disease sampletype annovar_type annovar_gene annovar_class annovar_aachange annovar_isoform TARGET_CASE_ID Trio Hugo_Symbol Variant_Classification VariantType dbSNP_RS Mutation_Status PFAM_DOMAIN Somatic_Score Somatic_Rank Somatic_quality Tumor_ReadCount_Alt Tumor_ReadCount_Ref Tumor_ReadCount_Total Normal_ReadCount_Alt Normal_ReadCount_Ref Normal_ReadCount_Total Cosmic Cosmic_Gene Reference_Allele TumorSeq_Allele1 TumorSeq_Allele2 Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Sample_Barcode Match_Normal_Sample_Barcode Entrez_Gene_Id Chromosome Start_position End_position miRNA Verification_Status Verification_Method FET_Score TumorRefCount_VS TumorVarCount_VS TumorTotalCount_VS NormalRefCount_VS NormalVarCount_VS NormalTotalCount_VS ALL diagnosis snv HSPA4L missense K615R NM_014278 10-PAIXPH HSPA4L MISSENSE SNP Somatic PFAM:PF00012:HSP70 -1 0.161 SQHIGH 11 18 29 1 40 41 Cosmic_Gene A A G A A TARGET-10-PAIXPH-03A-01D TARGET-10-PAIXPH-10A-01D 22824 4 128743955 128743955 Somatic Illumina 39 63929 59210 123204 156277 61 156422 ALL diagnosis snv CDH6 missense A511S NM_004932 10-PAIXPH CDH6 MISSENSE SNP Somatic 5 0.294 SQHIGH 15 8 23 1 35 36 Cosmic_Gene G G T G G TARGET-10-PAIXPH-03A-01D TARGET-10-PAIXPH-10A-01D 1004 5 31317500 31317500 Somatic Illumina 68 19030 17642 36707 46540 7 46600 ALL diagnosis snv ZNF12 missense Y269C NM_016265 10-PAIXPH ZNF12 MISSENSE SNP Somatic 6 0.331 SQHIGH 20 30 50 0 45 45 T T C T T TARGET-10-PAIXPH-03A-01D TARGET-10-PAIXPH-10A-01D 7559 7 6731767 6731767 Somatic Illumina 66 18013 15739 33755 40818 15 40834 ALL diagnosis snv CNTNAP2 silent I133I NM_014141 10-PAIXPH CNTNAP2 SYNONYMOUS SNP Somatic 10 0.490 SQHIGH 13 25 38 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAIXPH-03A-01D TARGET-10-PAIXPH-10A-01D 26047 7 146536993 146536993 45 ALL diagnosis snv SLC7A2 silent S162S NM_003046 10-PAIXPH SLC7A2 SYNONYMOUS SNP Somatic PFAM:PF01490:Aa_trans 7 0.365 SQHIGH 25 33 58 0 57 57 Cosmic_Gene G G A G G TARGET-10-PAIXPH-03A-01D TARGET-10-PAIXPH-10A-01D 6542 8 17401214 17401214 89 ALL diagnosis snv CCDC7 missense S71L NM_145023 10-PAIXPH CCDC7 MISSENSE SNP Somatic 10 0.490 SQHIGH 12 33 45 0 43 43 C C T C C TARGET-10-PAIXPH-03A-01D TARGET-10-PAIXPH-10A-01D 221016 10 32740782 32740782 Somatic Illumina 39 13718 12859 26579 36670 289 36961 ALL diagnosis snv NRAS missense G12D NM_002524 10-PAIXSD NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 14 0.643 SQHIGH 23 24 47 0 36 36 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 4893 1 115258747 115258747 71 ALL diagnosis snv GP5 missense E280K NM_004488 10-PAIXSD GP5 MISSENSE SNP Somatic 17 0.876 SQHIGH 26 21 47 0 61 61 Cosmic_Gene C C T C C TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 2814 3 194118174 194118174 Somatic Illumina 117 4747 3453 8205 8244 12 8261 ALL diagnosis snv ZNF716 missense S336F NM_001159279 10-PAIXSD ZNF716 MISSENSE SNP Somatic 12 0.513 SQHIGH 26 32 58 0 54 54 Cosmic_Gene C C T C C TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 441234 7 57529174 57529174 90 ALL diagnosis snv GPC2 silent A164A NM_152742 10-PAIXSD STAG3|GPC2 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF01153:Glypican 13 0.575 SQHIGH 9 13 22 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 10734|221914 7 99773351 99773351 Somatic Illumina 42 4874 4586 9468 7995 3 8013 ALL diagnosis snv SETX silent P1868P NM_015046 10-PAIXSD SETX SYNONYMOUS SNP Somatic 11 0.452 SQHIGH 18 25 43 0 31 31 Cosmic_Gene C C T C C TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 23064 9 135173644 135173644 Somatic Illumina 51 25856 23238 49126 51746 18 51788 ALL diagnosis snv CDHR1 missense D473N NM_033100 10-PAIXSD CDHR1 MISSENSE SNP Somatic 7 0.294 SQHIGH 26 60 86 0 83 83 Cosmic_Gene G G A G G TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 92211 10 85970853 85970853 Somatic Illumina 86 55004 33885 89014 94654 43 94854 ALL diagnosis snv FAT3 missense V1661I NM_001008781 10-PAIXSD FAT3 MISSENSE SNP Somatic 13 0.575 SQHIGH 20 20 40 0 48 48 Cosmic_Gene G G A G G TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 120114 11 92531160 92531160 Somatic Illumina 83 19227 16792 36072 34635 20 34706 ALL diagnosis snv KMT2D nonsense R1903* NM_003482 10-PAIXSD KMT2D NONSENSE SNP Somatic -10 0.055 SQHIGH 7 31 38 1 53 54 Cosmic_Gene G G A G G TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 8085 12 49436599 49436599 TumorFP Illumina 21 164535 6062 170652 138820 221 139099 ALL diagnosis snv SNORA53 EXON E5_exon NM_005888 10-PAIXSD SLC25A3|SNORA53 INTRON|UTR SNP Somatic 6 0.262 SQHIGH 22 36 58 0 40 40 C C T C C TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 5250|677832 12 98993492 98993492 Somatic Illumina 59 51868 46039 97966 79336 123 79506 ALL diagnosis snv SYNE2 missense S5002F NM_015180 10-PAIXSD SYNE2 MISSENSE SNP Somatic 14 0.643 SQHIGH 17 19 36 0 25 25 Cosmic_Gene C C T C C TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 23224 14 64608087 64608087 Somatic Sanger 48 0 0 0 0 0 0 ALL diagnosis snv ALPK2 missense A1297V NM_052947 10-PAIXSD ALPK2 MISSENSE SNP Somatic 13 0.575 SQHIGH 19 21 40 0 50 50 Cosmic_Gene G G A G G TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 115701 18 56203529 56203529 Somatic Illumina 80 13571 11706 25287 14282 6 14293 ALL diagnosis snv EIF2B4 splice_region V256_E7splice_region NM_172195 10-PAKKCA SNX17|EIF2B4 TSS-UPSTREAM|ACCEPTOR SNP Somatic 13 0.624 SQHIGH 22 24 46 0 56 56 Cosmic_Gene T T C T T TARGET-10-PAKKCA-03A-01D TARGET-10-PAKKCA-14A-01D 9784|8890 2 27590698 27590698 Somatic Illumina 92 32685 29906 62599 72355 96 72456 ALL diagnosis snv NRXN1 missense V187L NM_004801 10-PAKKCA NRXN1 MISSENSE SNP Somatic 7 0.328 SQHIGH 9 9 18 0 20 20 Cosmic_Gene C C G C C TARGET-10-PAKKCA-03A-01D TARGET-10-PAKKCA-14A-01D 9378 2 51254853 51254853 Somatic Illumina 35 45692 41473 87313 83068 127 83316 ALL diagnosis snv ASZ1 missense R430W NM_130768 10-PAKKCA ASZ1 MISSENSE,UTR SNP dbsnp.134:rs143434974 Somatic 2 0.192 SQHIGH 6 6 12 0 19 19 Cosmic_Gene G G A G G TARGET-10-PAKKCA-03A-01D TARGET-10-PAKKCA-14A-01D 136991 7 117003790 117003790 29 ALL diagnosis snv CDK5 missense Y285D NM_004935 10-PAKKCA SLC4A2|CDK5 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03109:ABC1 -3 0.115 SQHIGH 4 15 19 0 22 22 Cosmic_Gene A A C A A TARGET-10-PAKKCA-03A-01D TARGET-10-PAKKCA-14A-01D 6522|1020 7 150751122 150751122 14 ALL diagnosis snv ROBO4 missense E469K NM_019055 10-PAKKCA ROBO4 MISSENSE SNP Somatic 5 0.258 SQHIGH 22 12 34 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAKKCA-03A-01D TARGET-10-PAKKCA-14A-01D 54538 11 124763855 124763855 Somatic Illumina 89 53459 48907 102463 97287 73 97472 ALL diagnosis snv RALGAPA2 silent P1447P NM_020343 10-PAKKCA RALGAPA2 SYNONYMOUS SNP Somatic 15 0.755 SQHIGH 32 24 56 1 51 52 Cosmic_Gene C C T C C TARGET-10-PAKKCA-03A-01D TARGET-10-PAKKCA-14A-01D 57186 20 20493672 20493672 104 ALL diagnosis snv EPHA10 silent A200A NM_173641 10-PAKMJF EPHA10 SYNONYMOUS SNP Somatic PFAM:PF01404:Ephrin_lbd 1 0.167 SQHIGH 7 13 20 0 20 20 Cosmic_Gene C C T C C TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 284656 1 38227327 38227327 24 ALL diagnosis snv SLC5A9 missense R587C NM_001135181 10-PAKMJF SLC5A9 MISSENSE SNP Somatic 7 0.297 SQHIGH 12 30 42 2 54 56 Cosmic_Gene C C T C C TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 200010 1 48708135 48708135 Somatic Illumina 32 56195 20743 76946 107344 58 107418 ALL diagnosis snv PLA2G4A missense W596C NM_024420 10-PAKMJF PLA2G4A MISSENSE SNP Somatic 2 0.181 SQHIGH 8 11 19 0 35 35 Cosmic_Gene G G T G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 5321 1 186946748 186946748 Somatic Illumina 41 96308 36014 132396 159223 117 159408 ALL diagnosis snv SP3 nonsense R664* NM_003111 10-PAKMJF SP3 NONSENSE SNP Somatic 2 0.181 SQHIGH 8 29 37 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 6670 2 174777837 174777837 Somatic Illumina 22 17363 6031 23401 24338 17 24362 ALL diagnosis snv PDE11A splice D55N NM_001077197 10-PAKMJF PDE11A MISSENSE SNP Somatic PFAM:PF01590:GAF -27 0.011 5 21 26 0 53 53 Cosmic_Gene C C T C C TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 50940 2 178879187 178879187 25 ALL diagnosis snv ASIC4 missense G151V NM_182847 10-PAKMJF LOC100507611|ACCN4 INTRON|MISSENSE SNP Somatic -6 0.087 SQHIGH 6 30 36 1 55 56 Cosmic_Gene G G T G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 100507611|55515 2 220379517 220379517 19 ALL diagnosis snv CCR9 nonsense W343* NM_031200 10-PAKMJF CCR9 NONSENSE,UTR SNP Somatic 0 0.152 SQHIGH 10 27 37 1 64 65 Cosmic_Gene G G A G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 10803 3 45943308 45943308 Somatic Illumina 39 25577 9536 35121 40579 85 40675 ALL diagnosis snv FRAS1 missense P2354S NM_025074 10-PAKMJF FRAS1 MISSENSE SNP Somatic PFAM:PF00028:Cadherin -2 0.124 SQHIGH 7 29 36 3 65 68 Cosmic_Gene C C T C C TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 80144 4 79387392 79387392 17 ALL diagnosis snv SH3D19 splice A720_E20splice NM_001009555 10-PAKMJF SH3D19 DISRUPT SNP Somatic -5 0.095 SQHIGH 7 20 27 0 35 35 Cosmic_Gene C C A C C TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 152503 4 152048868 152048868 27 ALL diagnosis snv MROH2B splice_region K1337_E36splice_region NM_173489 10-PAKMJF MROH2B INTRON SNP Somatic 4 0.218 SQHIGH 10 29 39 0 60 60 Cosmic_Gene C C T C C TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 133558 5 41004866 41004866 44 ALL diagnosis snv MDN1 missense R5352Q NM_014611 10-PAKMJF MDN1 MISSENSE SNP Somatic 3 0.198 SQHIGH 9 19 28 1 55 56 Cosmic_Gene C C T C C TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 23195 6 90359894 90359894 Somatic Illumina 38 18441 5929 24380 33157 16 33194 ALL diagnosis snv MYL7 missense P140T NM_021223 10-PAKMJF MYL7 MISSENSE SNP Somatic 4 0.218 SQHIGH 14 37 51 0 87 87 G G T G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 58498 7 44179128 44179128 Somatic Illumina 66 10543 3259 13808 19433 13 19453 ALL diagnosis snv CYP11B2 missense T34M NM_000498 10-PAKMJF CYP11B2 MISSENSE SNP Somatic 13 0.570 SQHIGH 9 25 34 0 52 52 G G A G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 1585 8 143999156 143999156 Somatic Illumina 39 67208 23100 90340 113386 229 113648 ALL diagnosis snv ZNF623 missense T33M NM_014789 10-PAKMJF ZNF623 UTR5,MISSENSE SNP Somatic 0 0.152 SQHIGH 11 38 49 0 77 77 C C T C C TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 9831 8 144732140 144732140 Somatic Illumina 48 39519 13232 52757 69067 16 69090 ALL diagnosis snv KLF9 missense S236L NM_001206 10-PAKMJF KLF9 MISSENSE SNP Somatic 7 0.297 SQHIGH 7 15 22 0 66 66 G G A G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 687 9 73002720 73002720 Somatic Illumina 46 10324 2219 12543 14549 6 14556 ALL diagnosis snv PAMR1 missense R270H NM_015430 10-PAKMJF PAMR1 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 17 0.856 SQHIGH 17 13 30 0 55 55 Cosmic_Gene C C T C C TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 25891 11 35489560 35489560 Somatic Illumina 94 19431 17667 37098 51873 45 51922 ALL diagnosis snv IGSF9B nonsense R1367* NM_001277285 10-PAKMJF IGSF9B NONSENSE SNP Somatic -1 0.139 SQHIGH 8 31 39 1 56 57 G G A G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 646543 11 133781787 133781787 25 ALL diagnosis snv CCDC62 missense A611T NM_201435 10-PAKMJF CCDC62 MISSENSE,UTR SNP Somatic 17 0.856 SQHIGH 14 20 34 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 84660 12 123290822 123290822 Somatic Illumina 56 31168 10790 41961 55282 38 55323 ALL diagnosis snv USP6 silent V148V NM_004505 10-PAKMJF USP6 SYNONYMOUS SNP dbsnp.134:rs117611547 Somatic PFAM:PF00566:TBC -25 0.014 3 16 19 1 62 63 COSMIC:mut:106706 Cosmic_Gene G G A G G TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 9098 17 5037241 5037241 14 ALL diagnosis snv SUPT5H missense L128P NM_003169 10-PAKMJF SUPT5H MISSENSE SNP Somatic PFAM:PF11942:Spt5_N -7 0.080 SQHIGH 8 13 21 1 43 44 Cosmic_Gene T T C T T TARGET-10-PAKMJF-03A-01D TARGET-10-PAKMJF-14A-01D 6829 19 39949521 39949521 Somatic Illumina 35 29732 10162 39901 39272 34 39308 ALL diagnosis snv ARID1A silent P1412P NM_006015 10-PAKSWW ARID1A SYNONYMOUS,INTRON SNP Somatic -6 0.061 SQHIGH 6 31 37 0 37 37 Cosmic_Gene T T A T T TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 8289 1 27100954 27100954 19 ALL diagnosis snv JAK1 missense V658F NM_002227 10-PAKSWW JAK1 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 4 0.148 SQHIGH 15 42 57 0 59 59 Cosmic_Gene C C A C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 3716 1 65312347 65312347 51 ALL diagnosis snv TTF2 splice Q95_E4splice NM_003594 10-PAKSWW TTF2 DISRUPT SNP Somatic -3 0.076 SQHIGH 7 18 25 1 26 27 Cosmic_Gene T T C T T TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 8458 1 117616351 117616351 17 ALL diagnosis snv TIPRL missense T119A NM_152902 10-PAKSWW TIPRL MISSENSE SNP Somatic PFAM:PF04176:TIP41 15 0.642 SQHIGH 14 12 26 0 23 23 Cosmic_Gene A A G A A TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 261726 1 168154087 168154087 48 ALL diagnosis snv DNAH7 missense E775K NM_018897 10-PAKSWW DNAH7 MISSENSE SNP Somatic PFAM:PF08393:DHC_N2 -5 0.065 SQHIGH 5 18 23 0 19 19 Cosmic_Gene C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 56171 2 196825552 196825552 14 ALL diagnosis snv NPNT silent D89D NM_001184691 10-PAKSWW NPNT SYNONYMOUS,INTRON SNP Somatic 15 0.642 SQHIGH 19 27 46 0 54 54 Cosmic_Gene C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 255743 4 106853772 106853772 75 ALL diagnosis snv MROH2B splice_region E10_E2splice_region NM_173489 10-PAKSWW MROH2B ACCEPTOR SNP Somatic 10 0.303 SQHIGH 13 19 32 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 133558 5 41069861 41069861 50 ALL diagnosis snv SLC23A1 silent F467F NM_005847 10-PAKSWW SLC23A1 SYNONYMOUS SNP Somatic PFAM:PF00860:Xan_ur_permease PFAM:PF00916:Sulfate_transp 5 0.163 SQHIGH 18 36 54 2 51 53 G G A G G TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 9963 5 138713716 138713716 42 ALL diagnosis snv STXBP5 silent Y179Y NM_139244 10-PAKSWW STXBP5 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 19 0.949 SQHIGH 16 17 33 0 37 37 C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 134957 6 147581856 147581856 63 ALL diagnosis snv AEBP1 missense T1063A NM_001129 10-PAKSWW AEBP1 MISSENSE SNP Somatic 12 0.393 SQHIGH 13 17 30 0 27 27 A A G A A TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 165 7 44153570 44153570 43 ALL diagnosis snv TFEC splice P172_E6splice NM_012252 10-PAKSWW TFEC DISRUPT SNP Somatic 9 0.268 SQHIGH 9 8 17 0 17 17 Cosmic_Gene C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 22797 7 115590927 115590927 33 ALL diagnosis snv CTTNBP2 splice K1548_E21splice NM_033427 10-PAKSWW CTTNBP2 DISRUPT SNP Somatic 20 0.999 SQHIGH 22 17 39 1 40 41 Cosmic_Gene A A C A A TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 83992 7 117359556 117359556 75 ALL diagnosis snv CADPS2 silent K378K NM_017954 10-PAKSWW CADPS2 SYNONYMOUS SNP Somatic PFAM:PF00168:C2 13 0.450 SQHIGH 26 24 50 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 93664 7 122255324 122255324 63 ALL diagnosis snv MGAM missense R710M NM_004668 10-PAKSWW MGAM MISSENSE SNP Somatic 2 0.122 SQHIGH 9 43 52 1 55 56 Cosmic_Gene G G T G G TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 8972 7 141736675 141736675 22 ALL diagnosis snv OR6B1 missense F207V NM_001005281 10-PAKSWW OR6B1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 15 0.642 SQHIGH 35 39 74 0 71 71 Cosmic_Gene T T G T T TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 135946 7 143701708 143701708 125 ALL diagnosis snv MTUS1 missense S189I NM_001001924 10-PAKSWW MTUS1 MISSENSE SNP Somatic -8 0.051 SQHIGH 3 12 15 0 27 27 Cosmic_Gene C C A C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 57509 8 17612751 17612751 14 ALL diagnosis snv GRID1 missense A959V NM_017551 10-PAKSWW GRID1|LOC100507470 MISSENSE|INTRON SNP Somatic 16 0.715 SQHIGH 20 23 43 0 27 27 Cosmic_Gene G G A G G TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 2894|100507470 10 87362184 87362184 52 ALL diagnosis snv OR5M8 missense R20Q NM_001005282 10-PAKSWW OR5M8 MISSENSE SNP Somatic 15 0.642 SQHIGH 22 18 40 0 38 38 Cosmic_Gene C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 219484 11 56258788 56258788 81 ALL diagnosis snv DAGLA silent G883G NM_006133 10-PAKSWW DAGLA SYNONYMOUS SNP Somatic 19 0.949 SQHIGH 21 18 39 0 33 33 Cosmic_Gene C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 747 11 61511481 61511481 71 ALL diagnosis snv ARHGAP42 silent S699S NM_152432 10-PAKSWW ARHGAP42 SYNONYMOUS SNP Somatic -6 0.061 SQHIGH 9 55 64 0 67 67 A A C A A TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 143872 11 100847029 100847029 29 ALL diagnosis snv KRAS missense G12V NM_033360 10-PAKSWW KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic -22 0.011 5 34 39 0 36 36 COSMIC:mut:520 Cosmic_Gene C C A C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 3845 12 25398284 25398284 15 ALL diagnosis snv TRHDE silent L210L NM_013381 10-PAKSWW LOC283392|TRHDE UTR|SYNONYMOUS SNP Somatic 8 0.239 SQHIGH 22 33 55 0 46 46 Cosmic_Gene C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 283392|29953 12 72667188 72667188 69 ALL diagnosis snv SLITRK6 missense S377R NM_032229 10-PAKSWW SLITRK6 MISSENSE SNP Somatic 5 0.163 SQHIGH 16 44 60 0 45 45 Cosmic_Gene A A T A A TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 84189 13 86369513 86369513 43 ALL diagnosis snv TP53 missense R248Q NM_000546 10-PAKSWW TP53 MISSENSE SNP dbsnp.120:rs11540652 Somatic 11 0.343 SQHIGH 12 30 42 2 58 60 COSMIC:mut:10662,COSMIC:mut:99020,COSMIC:mut:99021,COSMIC:mut:99602 Cosmic_Gene C C T C C TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 7157 17 7577538 7577538 34 ALL diagnosis snv DNAH9 missense K904M NM_001372 10-PAKSWW DNAH9 MISSENSE SNP Somatic 7 0.213 SQHIGH 8 25 33 0 50 50 Cosmic_Gene A A T A A TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 1770 17 11568265 11568265 35 ALL diagnosis snv DOT1L missense E47V NM_032482 10-PAKSWW DOT1L MISSENSE SNP Somatic 14 0.528 SQHIGH 66 3 69 0 44 44 Cosmic_Gene A T T A A TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 84444 19 2185868 2185868 275 ALL diagnosis snv SMARCA4 splice E1292_E28splice NM_001128849 10-PAKSWW SMARCA4 DISRUPT SNP Somatic 1 0.111 SQHIGH 13 50 63 0 58 58 Cosmic_Gene G G A G G TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 6597 19 11144798 11144798 40 ALL diagnosis snv SULT2B1 missense V206E NM_004605 10-PAKSWW SULT2B1 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 3 0.134 SQHIGH 12 29 41 0 22 22 Cosmic_Gene T T A T T TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 6820 19 49100012 49100012 25 ALL diagnosis snv FTCD silent D39D NM_206965 10-PAKSWW FTCD SYNONYMOUS SNP Somatic PFAM:PF07837:FTCD_N 0 0.101 SQHIGH 25 19 44 0 20 20 Cosmic_Gene G G A G G TARGET-10-PAKSWW-09A-01D TARGET-10-PAKSWW-10A-01D 10841 21 47574184 47574184 55 ALL diagnosis snv PTPRF splice_region V820_E15splice_region NM_002840 10-PAKYKZ PTPRF DONOR SNP Somatic -3 0.114 SQHIGH 26 35 61 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 5792 1 44069207 44069207 Somatic Illumina 65 48850 39462 88448 103434 13 103595 ALL diagnosis snv COL11A1 missense G961S NM_001854 10-PAKYKZ COL11A1 MISSENSE SNP Somatic -8 0.068 SQHIGH 6 16 22 0 14 14 Cosmic_Gene C C T C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 1301 1 103431078 103431078 Somatic Illumina 14 43334 38460 81811 108837 216 109071 ALL diagnosis snv ZNF804A missense S498L NM_194250 10-PAKYKZ ZNF804A MISSENSE SNP Somatic 6 0.319 SQHIGH 9 15 24 0 25 25 Cosmic_Gene C C T C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 91752 2 185801616 185801616 Somatic Illumina 32 32454 26505 59073 73681 23 73858 ALL diagnosis snv GRID2 splice_region R516_E11splice_region NM_001510 10-PAKYKZ GRID2 ACCEPTOR SNP Somatic -7 0.076 SQHIGH 10 46 56 1 55 56 Cosmic_Gene C C G C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 2895 4 94376808 94376808 Somatic Illumina 24 135706 48720 184463 239674 342 240071 ALL diagnosis snv WDR17 missense R1090H NM_170710 10-PAKYKZ WDR17 MISSENSE SNP Somatic -10 0.055 SQHIGH 5 27 32 0 22 22 Cosmic_Gene G G A G G TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 116966 4 177093575 177093575 12 ALL diagnosis snv SAMD9L missense E1517Q NM_152703 10-PAKYKZ SAMD9L MISSENSE SNP Somatic -10 0.055 SQHIGH 24 20 44 0 24 24 Cosmic_Gene C C G C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 219285 7 92760736 92760736 Somatic Illumina 59 36951 28686 65649 74706 4 74728 ALL diagnosis snv LAMB4 missense E1451Q NM_007356 10-PAKYKZ LAMB4 MISSENSE SNP Somatic 15 0.791 SQHIGH 17 15 32 0 19 19 Cosmic_Gene C C G C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 22798 7 107684317 107684317 Somatic Illumina 44 36765 28684 65578 80885 12 81075 ALL diagnosis snv MTMR9 silent L220L NM_015458 10-PAKYKZ MTMR9 SYNONYMOUS SNP Somatic PFAM:PF06602:Myotub-related -1 0.143 SQHIGH 8 17 25 0 22 22 G G A G G TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 66036 8 11163767 11163767 25 ALL diagnosis snv CNGB3 missense G80A NM_019098 10-PAKYKZ CNGB3 MISSENSE SNP Somatic 2 0.201 SQHIGH 15 23 38 0 28 28 Cosmic_Gene C C G C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 54714 8 87738858 87738858 Somatic Sanger 42 0 0 0 0 0 0 ALL diagnosis snv OR6C6 missense V245I NM_001005493 10-PAKYKZ OR6C6 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.319 SQHIGH 11 30 41 0 19 19 Cosmic_Gene C C T C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 283365 12 55688284 55688284 Somatic Sanger 20 0 0 0 0 0 0 ALL diagnosis snv PTPN11 missense D155N NM_002834 10-PAKYKZ PTPN11 MISSENSE SNP Somatic 6 0.319 SQHIGH 8 16 24 0 16 16 Cosmic_Gene G G A G G TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 5781 12 112891129 112891129 Somatic Illumina 20 34871 27847 62720 73207 11 73220 ALL diagnosis snv LRRC16B silent K1131K NM_138360 10-PAKYKZ LRRC16B SYNONYMOUS SNP Somatic 3 0.225 SQHIGH 21 14 35 0 15 15 Cosmic_Gene G G A G G TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 90668 14 24534479 24534479 45 ALL diagnosis snv CHST6 missense R316H NM_021615 10-PAKYKZ CHST6 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 -5 0.092 SQHIGH 11 33 44 0 14 14 C C T C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 4166 16 75512780 75512780 Somatic Illumina 15 13655 4722 18377 20511 6 20517 ALL diagnosis snv ACLY missense E313K NM_001096 10-PAKYKZ ACLY MISSENSE SNP Somatic 5 0.279 SQHIGH 16 18 34 0 17 17 Cosmic_Gene C C T C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 47 17 40061841 40061841 Somatic Illumina 35 122342 92807 215203 245955 84 246129 ALL diagnosis snv CABYR missense S142C NM_012189 10-PAKYKZ CABYR MISSENSE SNP Somatic 5 0.279 SQHIGH 8 25 33 1 26 27 C C G C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 26256 18 21735890 21735890 Somatic Sanger 16 0 0 0 0 0 0 ALL diagnosis snv CABYR nonsense S184* NM_012189 10-PAKYKZ CABYR INTRON,NONSENSE SNP Somatic 0 0.160 SQHIGH 9 46 55 0 46 46 C C G C C TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 26256 18 21736016 21736016 Somatic Illumina 25 101605 37162 138979 158410 218 158902 ALL diagnosis snv RAD21L1 splice_region D286_E8splice_region NM_001136566 10-PAKYKZ RAD21L1 DONOR SNP Somatic 12 0.594 SQHIGH 11 14 25 0 19 19 G G A G G TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 642636 20 1221083 1221083 Somatic Illumina 32 82925 64373 147509 165949 26 166226 ALL diagnosis snv ACTR5 nonsense E549* NM_024855 10-PAKYKZ ACTR5 NONSENSE SNP Somatic 5 0.279 SQHIGH 25 32 57 0 41 41 G G T G G TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 79913 20 37400280 37400280 Somatic Illumina 71 74771 55044 129922 164357 701 165244 ALL diagnosis snv ACTR5 missense E556Q NM_024855 10-PAKYKZ ACTR5 MISSENSE SNP Somatic 7 0.355 SQHIGH 21 30 51 0 40 40 G G C G G TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 79913 20 37400301 37400301 Somatic Illumina 63 67107 53118 120309 148019 573 148699 ALL diagnosis snv GABRA3 splice_region G47_E2splice_region NM_000808 10-PAKYKZ GABRA3 INTRON SNP Somatic -8 0.068 SQHIGH 9 53 62 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAKYKZ-03A-01D TARGET-10-PAKYKZ-14A-01D 2556 X 151532895 151532895 18 ALL diagnosis snv CTD-2270F17.1 EXON E1_exon NM_004137 10-PALIYC KCNMB1|KCNIP1 UTR5|INTRON SNP Somatic 3 0.180 SQHIGH 6 33 39 0 38 38 Cosmic_Gene G G A G G TARGET-10-PALIYC-03A-01D TARGET-10-PALIYC-14A-01D 3779|30820 5 169816500 169816500 19 ALL diagnosis snv DNAJA4 missense H191P NM_018602 10-PALIYC DNAJA4 MISSENSE SNP Somatic PFAM:PF00684:DnaJ_CXXCXGXG -9 0.059 SQHIGH 4 23 27 0 30 30 Cosmic_Gene A A C A A TARGET-10-PALIYC-03A-01D TARGET-10-PALIYC-14A-01D 55466 15 78566605 78566605 14 ALL diagnosis snv DNAJA4 missense I192N NM_018602 10-PALIYC DNAJA4 MISSENSE SNP Somatic PFAM:PF00684:DnaJ_CXXCXGXG -9 0.059 SQHIGH 4 22 26 0 32 32 Cosmic_Gene T T A T T TARGET-10-PALIYC-03A-01D TARGET-10-PALIYC-14A-01D 55466 15 78566608 78566608 15 ALL diagnosis snv NRAS missense G12S NM_002524 10-PALKMM NRAS MISSENSE SNP dbsnp.133:rs121913250 Somatic 1 0.252 SQHIGH 18 13 31 0 43 43 COSMIC:mut:563 Cosmic_Gene C C T C C TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 4893 1 115258748 115258748 OtherVar Illumina 85 9828 0 24361 28959 0 29041 ALL diagnosis snv IGFN1 missense G3564S NM_001164586 10-PALKMM IGFN1 MISSENSE SNP Somatic 3 0.299 SQHIGH 11 20 31 1 24 25 Cosmic_Gene G G A G G TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 91156 1 201195155 201195155 Somatic Illumina 24 48031 30900 78935 136233 46 136313 ALL diagnosis snv PKP4 splice H1111_E22splice NM_003628 10-PALKMM PKP4 DISRUPT SNP Somatic 9 0.504 SQHIGH 11 19 30 0 30 30 Cosmic_Gene G G C G G TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 8502 2 159536940 159536940 38 ALL diagnosis snv TRIM71 silent A366A NM_001039111 10-PALKMM TRIM71 SYNONYMOUS SNP Somatic 6 0.390 SQHIGH 18 24 42 0 39 40 Cosmic_Gene C C T C C TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 131405 3 32927503 32927503 61 ALL diagnosis snv TOPBP1 missense R510W NM_007027 10-PALKMM TOPBP1 MISSENSE SNP Somatic -6 0.126 SQHIGH 5 5 10 0 27 27 Cosmic_Gene T T A T T TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 11073 3 133363184 133363184 32 ALL diagnosis snv SLC26A8 silent P340P NM_052961 10-PALKMM SLC26A8 SYNONYMOUS SNP Somatic PFAM:PF00916:Sulfate_transp 14 0.768 SQHIGH 21 18 39 0 38 38 Cosmic_Gene A A G A A TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 116369 6 35949903 35949903 78 ALL diagnosis snv ADO missense V225M NM_032804 10-PALKMM ADO MISSENSE SNP Somatic PFAM:PF07847:DUF1637 4 0.326 SQHIGH 7 5 12 0 10 10 G G A G G TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 84890 10 64565492 64565492 BadAssay Illumina 23 0 0 0 0 0 0 ALL diagnosis snv GRID1 silent N881N NM_017551 10-PALKMM GRID1|LOC100507470 SYNONYMOUS|INTRON SNP Somatic 0 0.229 SQHIGH 19 23 42 2 45 47 Cosmic_Gene G G A G G TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 2894|100507470 10 87362417 87362417 54 ALL diagnosis snv TAT missense R315C NM_000353 10-PALKMM TAT|LOC100132529 MISSENSE|INTRON SNP Somatic 10 0.548 SQHIGH 17 23 40 0 45 45 Cosmic_Gene G G A G G TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 6898|100132529 16 71604270 71604270 66 ALL diagnosis snv AKAP10 silent T478T NM_007202 10-PALKMM AKAP10 SYNONYMOUS SNP Somatic -36 0.003 3 16 19 0 32 32 Cosmic_Gene A A G A A TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 11216 17 19839632 19839632 13 ALL diagnosis snv ADAM11 missense R316Q NM_002390 10-PALKMM ADAM11 MISSENSE SNP Somatic 16 0.874 SQHIGH 14 22 36 0 37 37 Cosmic_Gene G G A G G TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 4185 17 42850750 42850750 50 ALL diagnosis snv ZNF577 silent P80P NM_032679 10-PALKMM ZNF577 SYNONYMOUS,UTR SNP Somatic 1 0.252 SQHIGH 13 20 33 0 29 29 Cosmic_Gene G G A G G TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 84765 19 52380578 52380578 42 ALL diagnosis snv NRAS missense G12C NM_002524 10-PALUAH NRAS MISSENSE SNP dbsnp.133:rs121913250 Somatic 0 0.178 SQHIGH 18 21 39 1 20 21 COSMIC:mut:562 Cosmic_Gene C C A C C TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 4893 1 115258748 115258748 OtherVar Illumina 32 10178 0 24311 22398 0 22934 ALL diagnosis snv ACY1 missense R329Q NM_000666 10-PALUAH ACY1|ABHD14A-ACY1 MISSENSE|UTR SNP Somatic PFAM:PF05450:Nicastrin 11 0.554 SQHIGH 18 24 42 0 28 28 Cosmic_Gene G G A G G TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 95|100526760 3 52022604 52022604 Somatic Illumina 48 93654 73089 166753 143951 2160 146126 ALL diagnosis snv PCM1 missense G4R NM_006197 10-PALUAH PCM1 MISSENSE SNP Somatic 5 0.302 SQHIGH 17 34 51 0 37 37 Cosmic_Gene G G A G G TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 5108 8 17793129 17793129 Somatic Illumina 46 17815 14736 32553 18811 244 19057 ALL diagnosis snv SLC18A2 splice_region R357_E11splice_region NM_003054 10-PALUAH SLC18A2 DONOR SNP Somatic 10 0.505 SQHIGH 12 33 45 0 26 26 G G A G G TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 6571 10 119026327 119026327 Somatic Illumina 26 37795 8094 45891 59304 151 59456 ALL diagnosis snv SLC37A2 missense L477F NM_198277 10-PALUAH SLC37A2 MISSENSE SNP Somatic 10 0.505 SQHIGH 25 26 51 0 41 41 Cosmic_Gene C C T C C TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 219855 11 124955853 124955853 Somatic Illumina 79 40178 36961 77149 72997 972 73981 ALL diagnosis snv HVCN1 splice_region M137_E5splice_region NM_001040107 10-PALUAH HVCN1 INTRON SNP Somatic 4 0.273 SQHIGH 32 42 74 0 62 62 Cosmic_Gene C C T C C TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 84329 12 111093029 111093029 102 ALL diagnosis snv LTB4R missense A154T NM_181657 10-PALUAH LTB4R|CIDEB MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00001:7tm_1 3 0.246 SQHIGH 19 15 34 0 17 17 G G A G G TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 1241|27141 14 24785317 24785317 Somatic Illumina 44 73538 63585 137149 142901 2037 144961 ALL diagnosis snv TDRD9 silent H1059H NM_153046 10-PALUAH TDRD9 SYNONYMOUS SNP dbsnp.126:rs35169220 Somatic 8 0.417 SQHIGH 12 25 37 0 20 20 Cosmic_Gene C C T C C TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 122402 14 104493171 104493171 26 ALL diagnosis snv VSIG10L missense R740Q NM_001163922 10-PALUAH VSIG10L MISSENSE SNP Somatic -4 0.113 SQHIGH 4 7 11 0 13 13 C C T C C TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 147645 19 51840578 51840578 15 ALL diagnosis snv PDE5A missense R108Q NM_001083 10-PALULW PDE5A MISSENSE SNP Somatic 20 0.911 SQHIGH 19 1 20 0 26 26 C T T C C TARGET-10-PALULW-03A-01D TARGET-10-PALULW-14A-01D 8654 4 120528282 120528282 Somatic Illumina 113 7550 53570 61124 47644 24 47673 ALL diagnosis snv PCDH18 missense R726H NM_019035 10-PALULW PCDH18 MISSENSE SNP dbsnp.134:rs142362425 Somatic 15 0.599 SQHIGH 43 9 52 0 59 59 Cosmic_Gene C C T C C TARGET-10-PALULW-03A-01D TARGET-10-PALULW-14A-01D 54510 4 138451066 138451066 Somatic Illumina 215 17087 108812 125917 137614 57 137683 ALL diagnosis snv SSRP1 silent P132P NM_003146 10-PALULW SSRP1 SYNONYMOUS SNP Somatic 21 0.999 SQHIGH 30 6 36 0 63 63 Cosmic_Gene G G A G G TARGET-10-PALULW-03A-01D TARGET-10-PALULW-14A-01D 6749 11 57100574 57100574 Somatic Illumina 190 4941 23049 27993 24855 9 24865 ALL diagnosis snv KRAS missense G12D NM_033360 10-PALULW KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic -8 0.239 SQHIGH 6 37 43 0 36 36 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PALULW-03A-01D TARGET-10-PALULW-14A-01D 3845 12 25398284 25398284 Somatic Illumina 17 121065 10925 133036 97179 29 97645 ALL diagnosis snv MMD missense F73L NM_012329 10-PALULW MMD MISSENSE SNP Somatic PFAM:PF03006:HlyIII 3 0.369 SQHIGH 4 25 29 0 33 33 A A G A A TARGET-10-PALULW-03A-01D TARGET-10-PALULW-14A-01D 23531 17 53488670 53488670 14 ALL diagnosis snv NRAS missense G12D NM_002524 10-PALZVV NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 16 0.789 SQHIGH 33 9 42 0 27 27 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PALZVV-03A-01D TARGET-10-PALZVV-14A-01D 4893 1 115258747 115258747 111 ALL diagnosis snv TRPC3 splice_region A598_E7splice_region NM_001130698 10-PALZVV TRPC3 ACCEPTOR SNP Somatic -3 0.353 SQHIGH 32 6 38 1 25 26 Cosmic_Gene A A C A A TARGET-10-PALZVV-03A-01D TARGET-10-PALZVV-14A-01D 7222 4 122828727 122828727 Somatic Illumina 104 6833 31688 38563 35163 0 35209 ALL diagnosis snv IL6ST silent L132L NM_002184 10-PALZVV IL6ST SYNONYMOUS SNP Somatic PFAM:PF09067:EpoR_lig-bind -9 0.257 SQHIGH 22 1 23 0 24 24 Cosmic_Gene A G G A A TARGET-10-PALZVV-03A-01D TARGET-10-PALZVV-14A-01D 3572 5 55264201 55264201 118 ALL diagnosis snv BCLAF1 missense F336L NM_014739 10-PALZVV BCLAF1 MISSENSE SNP Somatic -3 0.353 SQHIGH 11 55 66 0 40 40 Cosmic_Gene G G T G G TARGET-10-PALZVV-03A-01D TARGET-10-PALZVV-14A-01D 9774 6 136599011 136599011 TumorFP Illumina 24 57398 1 57423 53534 2 53546 ALL diagnosis snv TOP1MT missense S156G NM_052963 10-PALZVV TOP1MT MISSENSE SNP Somatic 18 0.903 SQHIGH 37 12 49 1 45 46 Cosmic_Gene T T C T T TARGET-10-PALZVV-03A-01D TARGET-10-PALZVV-14A-01D 116447 8 144408409 144408409 Somatic Illumina 141 15272 64245 79539 70600 66 70676 ALL diagnosis snv ADAMTS17 missense R1006H NM_139057 10-PALZVV ADAMTS17 MISSENSE SNP dbsnp.134:rs147283866 Somatic 7 0.501 SQHIGH 21 5 26 0 27 27 Cosmic_Gene C C T C C TARGET-10-PALZVV-03A-01D TARGET-10-PALZVV-14A-01D 170691 15 100516360 100516360 Somatic Illumina 97 41760 193930 235699 163321 86 163412 ALL diagnosis snv TRPM2 missense G745D NM_003307 10-PALZVV TRPM2 MISSENSE,UTR SNP Somatic 11 0.581 SQHIGH 36 34 70 0 31 31 Cosmic_Gene G G A G G TARGET-10-PALZVV-03A-01D TARGET-10-PALZVV-14A-01D 7226 21 45820167 45820167 Somatic Illumina 74 11855 11249 23107 17916 27 17943 ALL diagnosis snv CCDC108 missense T1383M NM_194302 10-PAMXHJ CCDC108 MISSENSE SNP Somatic 15 0.621 SQHIGH 17 15 32 0 49 49 Cosmic_Gene G G A G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 255101 2 219875528 219875528 84 ALL diagnosis snv MYLK silent A48A NM_053025 10-PAMXHJ MYLK SYNONYMOUS SNP Somatic 19 0.921 SQHIGH 20 8 28 0 52 52 Cosmic_Gene G G A G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 4638 3 123512545 123512545 121 ALL diagnosis snv EPHA5 silent D388D NM_004439 10-PAMXHJ EPHA5 SYNONYMOUS SNP Somatic PFAM:PF00041:fn3 9 0.309 SQHIGH 17 25 42 0 28 28 Cosmic_Gene G G A G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 2044 4 66356333 66356333 45 ALL diagnosis snv MGAT4D missense A332T NM_001277353 10-PAMXHJ MGAT4D MISSENSE SNP Somatic PFAM:PF04666:Glyco_transf_54 6 0.213 SQHIGH 12 16 28 1 28 29 C C T C C TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 152586 4 141377757 141377757 34 ALL diagnosis snv SH2D3C missense S142L NM_170600 10-PAMXHJ SH2D3C TSS-UPSTREAM,MISSENSE SNP Somatic -8 0.054 SQHIGH 4 11 15 1 29 30 Cosmic_Gene G G A G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 10044 9 130536359 130536359 14 ALL diagnosis snv GRID1-AS1 EXON E15_exon NM_017551 10-PAMXHJ GRID1|LOC100507470 INTRON|UTR SNP Somatic 16 0.690 SQHIGH 11 19 30 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 2894|100507470 10 87366796 87366796 43 ALL diagnosis snv NCAM1-AS1 EXON E18_exon NM_000615 10-PAMXHJ LOC100288346|NCAM1 UTR|INTRON SNP Somatic 3 0.150 SQHIGH 9 13 22 0 24 24 Cosmic_Gene C C A C C TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 100288346|4684 11 113144461 113144461 33 ALL diagnosis snv PTPN11 missense G60V NM_002834 10-PAMXHJ PTPN11 MISSENSE SNP Somatic 17 0.786 SQHIGH 10 11 21 0 36 36 COSMIC:mut:13028 Cosmic_Gene G G T G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 5781 12 112888163 112888163 51 ALL diagnosis snv PABPC3 missense E538K NM_030979 10-PAMXHJ PABPC3 MISSENSE SNP Somatic 18 0.852 SQHIGH 15 15 30 0 39 39 Cosmic_Gene G G A G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 5042 13 25671948 25671948 66 ALL diagnosis snv FLT3 missense Y572C NM_004119 10-PAMXHJ FLT3 MISSENSE SNP dbsnp.133:rs121913491 Somatic PFAM:PF03109:ABC1 2 0.136 SQHIGH 7 28 35 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 2322 13 28608341 28608341 23 ALL diagnosis snv SLC22A17 silent L118L NM_020372 10-PAMXHJ SLC22A17 SYNONYMOUS SNP Somatic 8 0.281 SQHIGH 18 51 69 0 37 37 C C T C C TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 51310 14 23820978 23820978 37 ALL diagnosis snv BTBD7 silent S1087S NM_001002860 10-PAMXHJ BTBD7 SYNONYMOUS SNP Somatic -7 0.058 SQHIGH 10 58 68 0 40 40 Cosmic_Gene G G A G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 55727 14 93708757 93708757 21 ALL diagnosis snv RBL2 missense S103N NM_005611 10-PAMXHJ RBL2 MISSENSE SNP Somatic PFAM:PF11934:DUF3452 2 0.136 SQHIGH 21 55 76 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 5934 16 53472995 53472995 38 ALL diagnosis snv ACLY silent A418A NM_001096 10-PAMXHJ ACLY SYNONYMOUS SNP Somatic 1 0.122 SQHIGH 7 20 27 0 26 26 Cosmic_Gene G G T G G TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 47 17 40054968 40054968 22 ALL diagnosis snv ERCC6L missense R194T NM_017669 10-PAMXHJ ERCC6L|PIN4 MISSENSE|INTRON SNP Somatic 18 0.852 SQHIGH 40 1 41 0 22 22 Cosmic_Gene C G C TARGET-10-PAMXHJ-09B-01D TARGET-10-PAMXHJ-14A-01D 54821|5303 X 71428036 71428036 154 ALL diagnosis snv NRAS missense G12D NM_002524 10-PAMXSP NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 16 0.731 SQHIGH 14 16 30 0 30 30 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 4893 1 115258747 115258747 51 ALL diagnosis snv CDH6 missense S752L NM_004932 10-PAMXSP CDH6 MISSENSE SNP Somatic PFAM:PF01049:Cadherin_C 5 0.224 SQHIGH 10 16 26 0 32 32 Cosmic_Gene C C T C C TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 1004 5 31323297 31323297 40 ALL diagnosis snv SHPRH missense I1638R NM_001042683 10-PAMXSP SHPRH MISSENSE SNP Somatic 7 0.279 SQHIGH 13 13 26 0 19 19 Cosmic_Gene A A C A A TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 257218 6 146209198 146209198 38 ALL diagnosis snv OR9A4 silent T240T NM_001001656 10-PAMXSP OR9A4 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 1 0.151 SQHIGH 5 33 38 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 130075 7 141619395 141619395 15 ALL diagnosis snv UBAP2 missense I503T NM_018449 10-PAMXSP UBAP2 MISSENSE SNP Somatic -6 0.076 SQHIGH 7 22 29 1 34 35 Cosmic_Gene A A G A A TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 55833 9 33944400 33944400 19 ALL diagnosis snv KIRREL3 missense R404C NM_032531 10-PAMXSP KIRREL3 MISSENSE SNP Somatic PFAM:PF00047:ig 3 0.184 SQHIGH 10 16 26 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 84623 11 126314916 126314916 40 ALL diagnosis snv KRAS missense G12D NM_033360 10-PAMXSP KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic -32 0.005 3 16 19 0 32 32 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 3845 12 25398284 25398284 13 ALL diagnosis snv ADAMTSL3 silent T1109T NM_207517 10-PAMXSP ADAMTSL3 SYNONYMOUS SNP Somatic 2 0.166 SQHIGH 12 30 42 0 32 32 Cosmic_Gene C C T C C TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 57188 15 84651707 84651707 33 ALL diagnosis snv ITGA3 missense R1037W NM_005501 10-PAMXSP ITGA3 UTR3,MISSENSE SNP Somatic -1 0.124 SQHIGH 14 15 29 0 24 24 Cosmic_Gene C C T C C TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 3675 17 48166537 48166537 45 ALL diagnosis snv ZNF671 silent Q416Q NM_024833 10-PAMXSP ZNF671 SYNONYMOUS SNP Somatic 1 0.151 SQHIGH 7 26 33 0 40 40 Cosmic_Gene T T C T T TARGET-10-PAMXSP-09A-01D TARGET-10-PAMXSP-10A-01D 79891 19 58232206 58232206 26 ALL diagnosis snv MTOR missense T1977K NM_004958 10-PANCVR MTOR MISSENSE SNP Somatic -6 0.049 SQHIGH 9 39 48 0 61 61 Cosmic_Gene G G T G G TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 2475 1 11188164 11188164 34 ALL diagnosis snv MTOR missense A1459D NM_004958 10-PANCVR MTOR MISSENSE SNP Somatic 6 0.155 SQHIGH 13 57 70 0 55 55 Cosmic_Gene G G T G G TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 2475 1 11217302 11217302 35 ALL diagnosis snv SLC4A4 missense V118M NM_001098484 10-PANCVR SLC4A4 MISSENSE SNP Somatic 16 0.703 SQHIGH 20 17 37 1 34 35 Cosmic_Gene G G A G G TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 8671 4 72205185 72205185 61 ALL diagnosis snv DSP missense R1915C NM_004415 10-PANCVR DSP MISSENSE SNP Somatic 5 0.132 SQHIGH 17 47 64 1 70 71 Cosmic_Gene C C T C C TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 1832 6 7583238 7583238 50 ALL diagnosis snv SLC28A3 missense R227I NM_022127 10-PANCVR SLC28A3 MISSENSE,UTR SNP Somatic PFAM:PF01773:Nucleos_tra2_N 17 0.862 SQHIGH 34 26 60 0 60 60 Cosmic_Gene C C A C C TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 64078 9 86912924 86912924 131 ALL diagnosis snv ITGBL1 missense E416V NM_004791 10-PANCVR ITGBL1 MISSENSE SNP Somatic -7 0.045 SQHIGH 4 28 32 0 34 34 Cosmic_Gene A A T A A TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 9358 13 102359220 102359220 13 ALL diagnosis snv CACNG3 nonsense R208* NM_006539 10-PANCVR CACNG3 NONSENSE SNP Somatic 15 0.625 SQHIGH 25 22 47 0 46 46 C C T C C TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 10368 16 24372858 24372858 93 ALL diagnosis snv SOX9 silent P234P NM_000346 10-PANCVR SOX9 SYNONYMOUS SNP Somatic -10 0.036 SQHIGH 10 53 63 0 39 39 A A C A A TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 6662 17 70119700 70119700 22 ALL diagnosis snv C19orf71 missense S37Y NM_001135580 10-PANCVR C19orf71|C19orf28 MISSENSE|INTRON SNP Somatic 12 0.348 SQHIGH 15 20 35 0 38 38 Cosmic_Gene C C A C C TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 100128569|126321 19 3543259 3543259 57 ALL diagnosis snv SCUBE1 missense S414P NM_173050 10-PANCVR SCUBE1 MISSENSE SNP Somatic 4 0.118 SQHIGH 22 33 55 1 60 61 Cosmic_Gene A A G A A TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 80274 22 43619190 43619190 71 ALL diagnosis mnv EPB41 proteinIns D405>EI NM_001166005 10-PANCVR EPB41 SPAN5 Sub Somatic -10 0.209 SQHIGH 9 43 52 0 55 55 Cosmic_Gene CAGG CAGG AGAT CAGG CAGG TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 2035 1 29359602 29359605 30 ALL relapse snv MTOR missense A1459D NM_004958 10-PANCVR MTOR MISSENSE SNP Somatic 9 0.233 SQHIGH 20 31 51 0 55 55 Cosmic_Gene G G T G G TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 2475 1 11217302 11217302 74 ALL relapse snv ULK4 missense A752S NM_017886 10-PANCVR ULK4 MISSENSE SNP Somatic PFAM:PF00514:Arm 5 0.136 SQHIGH 12 43 55 0 52 52 C C A C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 54986 3 41795920 41795920 38 ALL relapse snv SLC4A4 missense V118M NM_001098484 10-PANCVR SLC4A4 MISSENSE SNP Somatic 12 0.352 SQHIGH 17 24 41 1 34 35 Cosmic_Gene G G A G G TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 8671 4 72205185 72205185 44 ALL relapse snv SLC39A8 missense R363Q NM_022154 10-PANCVR SLC39A8 MISSENSE SNP Somatic PFAM:PF02535:Zip -1 0.075 SQHIGH 10 44 54 0 71 71 C C T C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 64116 4 103188792 103188792 39 ALL relapse snv RNF138P1 EXON E1_exon NM_003711 10-PANCVR PPAP2A|RNF138P1 INTRON|UTR SNP Somatic 18 0.894 SQHIGH 12 12 24 0 33 33 Cosmic_Gene T T C T T TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 8611|379013 5 54827907 54827907 54 ALL relapse snv DCANP1 silent A154A NM_130848 10-PANCVR DCANP1 SYNONYMOUS SNP Somatic 6 0.160 SQHIGH 26 47 73 0 59 59 G G A G G TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 140947 5 134782337 134782337 78 ALL relapse snv DSP missense R1915C NM_004415 10-PANCVR DSP MISSENSE SNP Somatic -3 0.061 SQHIGH 10 49 59 1 70 71 Cosmic_Gene C C T C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 1832 6 7583238 7583238 28 ALL relapse snv SLC28A3 missense R227I NM_022127 10-PANCVR SLC28A3 MISSENSE,UTR SNP Somatic PFAM:PF01773:Nucleos_tra2_N 6 0.160 SQHIGH 14 40 54 0 60 60 Cosmic_Gene C C A C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 64078 9 86912924 86912924 50 ALL relapse snv HSPA5 silent L416L NM_005347 10-PANCVR HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -6 0.049 SQHIGH 9 61 70 0 63 63 Cosmic_Gene C C A C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 3309 9 128000574 128000574 26 ALL relapse snv HSPA5 silent V415V NM_005347 10-PANCVR HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -7 0.046 SQHIGH 10 71 81 0 62 62 Cosmic_Gene T T G T T TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 3309 9 128000577 128000577 26 ALL relapse snv NT5C2 missense D407Y NM_012229 10-PANCVR NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 17 0.861 SQHIGH 13 19 32 1 40 41 C C A C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 22978 10 104850746 104850746 44 ALL relapse snv WBP11 missense E137D NM_016312 10-PANCVR WBP11 MISSENSE SNP Somatic -2 0.067 SQHIGH 7 38 45 1 56 57 Cosmic_Gene C C A C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 51729 12 14948015 14948015 19 ALL relapse snv PCNXL4 missense T859A NM_022495 10-PANCVR PCNXL4 MISSENSE SNP Somatic PFAM:PF05041:Pecanex_C -2 0.067 SQHIGH 8 43 51 0 46 46 Cosmic_Gene A A G A A TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 64430 14 60600697 60600697 24 ALL relapse snv CACNG3 nonsense R208* NM_006539 10-PANCVR CACNG3 NONSENSE SNP Somatic 6 0.160 SQHIGH 16 34 50 0 46 46 C C T C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 10368 16 24372858 24372858 51 ALL relapse snv FASN missense V1161G NM_004104 10-PANCVR FASN MISSENSE SNP Somatic 4 0.122 SQHIGH 6 31 37 0 34 34 Cosmic_Gene A A C A A TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 2194 17 80044380 80044380 18 ALL relapse snv C19orf71 missense S37Y NM_001135580 10-PANCVR C19orf71|C19orf28 MISSENSE|INTRON SNP Somatic 12 0.352 SQHIGH 12 26 38 0 38 38 Cosmic_Gene C C A C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 100128569|126321 19 3543259 3543259 41 ALL relapse snv NLRP8 silent F581F NM_176811 10-PANCVR NLRP8 SYNONYMOUS SNP Somatic 6 0.160 SQHIGH 17 45 62 0 69 69 Cosmic_Gene C C T C C TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 126205 19 56467167 56467167 61 ALL relapse snv ZNF749 missense K87N NM_001023561 10-PANCVR ZNF749 MISSENSE SNP Somatic -4 0.057 SQHIGH 8 53 61 0 67 67 G G C G G TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 388567 19 57954777 57954777 27 ALL relapse snv SCUBE1 missense S414P NM_173050 10-PANCVR SCUBE1 MISSENSE SNP Somatic 2 0.099 SQHIGH 26 45 71 1 60 61 Cosmic_Gene A A G A A TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 80274 22 43619190 43619190 69 ALL relapse complex LSAMP nonsense L17>R* NM_002338 10-PANCVR LSAMP NONSENSE Sub Somatic 0 0.551 SQHIGH 25 73 98 0 78 78 TCA TCA TTACC TCA TCA TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 4045 3 116163827 116163829 70 ALL diagnosis snv IGSF3 missense N1177S NM_001542 10-PANDWE IGSF3 MISSENSE SNP Somatic 16 0.710 SQHIGH 12 25 37 0 46 46 Cosmic_Gene T T C T T TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 3321 1 117120049 117120049 47 ALL diagnosis snv C1orf68 missense T131M NM_001024679 10-PANDWE C1orf68 MISSENSE SNP Somatic 1 0.131 SQHIGH 26 24 50 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 100129271 1 152692389 152692389 99 ALL diagnosis snv PCM1 missense F1963I NM_006197 10-PANDWE PCM1 MISSENSE SNP Somatic -4 0.083 SQHIGH 6 17 23 0 28 28 Cosmic_Gene T T A T T TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 5108 8 17882915 17882915 23 ALL diagnosis snv CCDC25 silent E154E NM_018246 10-PANDWE CCDC25 SYNONYMOUS SNP Somatic 11 0.364 SQHIGH 11 37 48 1 33 34 T T C T T TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 55246 8 27605683 27605683 20 ALL diagnosis snv ENTPD8 silent S276S NM_001033113 10-PANDWE ENTPD8 SYNONYMOUS SNP Somatic PFAM:PF01150:GDA1_CD39 12 0.414 SQHIGH 12 15 27 0 21 21 Cosmic_Gene G G A G G TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 377841 9 140330687 140330687 36 ALL diagnosis snv HEPACAM missense T205I NM_152722 10-PANDWE HEPACAM MISSENSE SNP Somatic 6 0.211 SQHIGH 28 48 76 2 66 68 Cosmic_Gene G G A G G TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 220296 11 124793720 124793720 68 ALL diagnosis snv PCDH20 missense E293V NM_022843 10-PANDWE PCDH20 MISSENSE SNP Somatic 14 0.545 SQHIGH 20 27 47 0 56 56 Cosmic_Gene T T A T T TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 64881 13 61987354 61987354 80 ALL diagnosis snv ZNF469 silent P1266P NM_001127464 10-PANDWE ZNF469 SYNONYMOUS SNP Somatic 1 0.131 SQHIGH 3 5 8 0 14 14 A A C A A TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 84627 16 88497760 88497760 14 ALL diagnosis snv EVI2A missense A150V NM_001003927 10-PANDWE EVI2B|NF1|EVI2A TSS-UPSTREAM|INTRON|MISSENSE SNP dbsnp.134:rs139943451 Somatic PFAM:PF05399:EVI2A 17 0.837 SQHIGH 13 25 38 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 2124|4763|2123 17 29645652 29645652 56 ALL diagnosis snv GAA silent D303D NM_000152 10-PANDWE GAA SYNONYMOUS SNP Somatic 5 0.187 SQHIGH 7 15 22 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 2548 17 78081649 78081649 32 ALL diagnosis snv CRLF2 missense F232C NM_022148 10-PANDWE CRLF2 MISSENSE SNP Somatic 17 0.837 SQHIGH 16 17 33 0 34 34 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 64109 X 1314966 1314966 60 ALL diagnosis snv NKRF missense G575S NM_017544 10-PANDWE NKRF MISSENSE SNP Somatic PFAM:PF01585:G-patch 7 0.235 SQHIGH 24 34 58 0 42 42 Cosmic_Gene C C T C C TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 55922 X 118723665 118723665 68 ALL relapse snv IGSF3 missense N1177S NM_001542 10-PANDWE IGSF3 MISSENSE SNP Somatic 17 0.845 SQHIGH 25 17 42 0 46 46 Cosmic_Gene T T C T T TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 3321 1 117120049 117120049 104 ALL relapse snv C1orf68 missense T131M NM_001024679 10-PANDWE C1orf68 MISSENSE SNP Somatic 1 0.139 SQHIGH 28 15 43 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 100129271 1 152692389 152692389 126 ALL relapse snv SEC16B silent V418V NM_033127 10-PANDWE SEC16B SYNONYMOUS SNP Somatic -5 0.083 SQHIGH 3 22 25 0 42 42 Cosmic_Gene C C G C C TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 89866 1 177927378 177927378 13 ALL relapse snv HEATR1 missense C1452R NM_018072 10-PANDWE HEATR1 MISSENSE SNP Somatic 0 0.128 SQHIGH 11 37 48 0 38 38 Cosmic_Gene A A G A A TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 55127 1 236729300 236729300 30 ALL relapse snv CYP26B1 silent L125L NM_019885 10-PANDWE CYP26B1 SYNONYMOUS SNP Somatic PFAM:PF00067:p450 -3 0.097 SQHIGH 10 26 36 0 35 35 Cosmic_Gene G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 56603 2 72371174 72371174 33 ALL relapse snv FBLN7 missense E53K NM_153214 10-PANDWE FBLN7 MISSENSE SNP Somatic 5 0.198 SQHIGH 11 8 19 0 18 18 Cosmic_Gene G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 129804 2 112917334 112917334 41 ALL relapse snv ADAMTS6 nonsense R633* NM_197941 10-PANDWE ADAMTS6 NONSENSE SNP Somatic -4 0.090 SQHIGH 6 18 24 0 26 26 G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 11174 5 64537967 64537967 21 ALL relapse snv CMYA5 missense E44G NM_153610 10-PANDWE CMYA5 MISSENSE SNP Somatic -8 0.066 SQHIGH 9 31 40 0 27 27 Cosmic_Gene A A G A A TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 202333 5 78985861 78985861 22 ALL relapse snv TMEM63B missense V170I NM_018426 10-PANDWE TMEM63B MISSENSE SNP Somatic 1 0.139 SQHIGH 7 25 32 0 26 26 Cosmic_Gene G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 55362 6 44107304 44107304 20 ALL relapse snv PCM1 missense F1963I NM_006197 10-PANDWE PCM1 MISSENSE SNP Somatic -2 0.106 SQHIGH 7 11 18 0 28 28 Cosmic_Gene T T A T T TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 5108 8 17882915 17882915 32 ALL relapse snv TRHR silent G39G NM_003301 10-PANDWE TRHR SYNONYMOUS SNP dbsnp.86:rs1139580 Somatic -5 0.083 SQHIGH 11 50 61 0 63 63 Cosmic_Gene C C T C C TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 7201 8 110099858 110099858 36 ALL relapse snv ENTPD8 silent S276S NM_001033113 10-PANDWE ENTPD8 SYNONYMOUS SNP Somatic PFAM:PF01150:GDA1_CD39 13 0.495 SQHIGH 18 21 39 0 21 21 Cosmic_Gene G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 377841 9 140330687 140330687 42 ALL relapse snv SLC18A3 silent Y175Y NM_003055 10-PANDWE SLC18A3|CHAT SYNONYMOUS|INTRON,TSS-UPSTREAM SNP Somatic PFAM:PF07690:MFS_1 5 0.198 SQHIGH 10 24 34 0 27 27 Cosmic_Gene C C T C C TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 6572|1103 10 50819311 50819311 28 ALL relapse snv HEPACAM missense T205I NM_152722 10-PANDWE HEPACAM MISSENSE SNP Somatic 13 0.495 SQHIGH 46 36 82 2 66 68 Cosmic_Gene G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 220296 11 124793720 124793720 129 ALL relapse snv ARHGEF25 silent S149S NM_182947 10-PANDWE ARHGEF25 SYNONYMOUS SNP Somatic -9 0.061 SQHIGH 11 73 84 2 70 72 Cosmic_Gene T T C T T TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 115557 12 58007261 58007261 17 ALL relapse snv AGAP2 silent N953N NM_001122772 10-PANDWE AGAP2|LOC100130776 SYNONYMOUS|UTR SNP Somatic PFAM:PF01412:ArfGap -10 0.057 SQHIGH 7 40 47 0 39 39 Cosmic_Gene G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 116986|100130776 12 58121364 58121364 19 ALL relapse snv PCDH20 missense E293V NM_022843 10-PANDWE PCDH20 MISSENSE SNP Somatic 13 0.495 SQHIGH 17 24 41 0 56 56 Cosmic_Gene T T A T T TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 64881 13 61987354 61987354 74 ALL relapse snv TNFAIP2 missense R342H NM_006291 10-PANDWE TNFAIP2 MISSENSE SNP Somatic PFAM:PF06046:Sec6 6 0.224 SQHIGH 15 21 36 0 33 33 Cosmic_Gene G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 7127 14 103596388 103596388 50 ALL relapse snv MPRIP splice_region E425_E11splice_region NM_015134 10-PANDWE MPRIP INTRON SNP Somatic 6 0.224 SQHIGH 5 23 28 0 41 41 T T G T T TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 23164 17 17050709 17050709 21 ALL relapse snv SPECC1 nonsense L491* NM_001033553 10-PANDWE SPECC1 NONSENSE SNP Somatic 6 0.224 SQHIGH 5 24 29 0 24 24 Cosmic_Gene T T A T T TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 92521 17 20108834 20108834 14 ALL relapse snv EVI2A missense A150V NM_001003927 10-PANDWE EVI2B|NF1|EVI2A TSS-UPSTREAM|INTRON|MISSENSE SNP dbsnp.134:rs139943451 Somatic PFAM:PF05399:EVI2A 7 0.250 SQHIGH 20 38 58 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 2124|4763|2123 17 29645652 29645652 65 ALL relapse snv ASB16 missense H358P NM_080863 10-PANDWE ASB16|C17orf65 MISSENSE|UTR5 SNP Somatic -7 0.072 SQHIGH 5 25 30 0 33 33 Cosmic_Gene A A C A A TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 92591|339201 17 42254987 42254987 17 ALL relapse snv GAA silent D303D NM_000152 10-PANDWE GAA SYNONYMOUS SNP Somatic 11 0.386 SQHIGH 16 19 35 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 2548 17 78081649 78081649 58 ALL relapse snv CRLF2 missense F232C NM_022148 10-PANDWE CRLF2 MISSENSE SNP Somatic 16 0.729 SQHIGH 18 10 28 0 34 34 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 64109 X 1314966 1314966 81 ALL relapse snv NKRF missense G575S NM_017544 10-PANDWE NKRF MISSENSE SNP Somatic PFAM:PF01585:G-patch 7 0.250 SQHIGH 30 24 54 0 42 42 Cosmic_Gene C C T C C TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 55922 X 118723665 118723665 97 ALL relapse snv MAP7D3 missense A325V NM_024597 10-PANDWE MAP7D3 MISSENSE SNP Somatic -6 0.078 SQHIGH 8 42 50 1 48 49 Cosmic_Gene G G A G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 79649 X 135314142 135314142 18 ALL diagnosis snv MPZ silent L184L NM_000530 10-PANEBL MPZ SYNONYMOUS SNP Somatic PFAM:PF10570:Myelin-PO_C -2 0.078 SQHIGH 4 13 17 0 18 18 Cosmic_Gene G G A G G TARGET-10-PANEBL-03A-01D TARGET-10-PANEBL-14A-01D 4359 1 161276153 161276153 13 ALL diagnosis snv OR6T1 missense A232P NM_001005187 10-PANEBL OR6T1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -5 0.060 SQHIGH 3 17 20 0 33 33 Cosmic_Gene C C G C C TARGET-10-PANEBL-03A-01D TARGET-10-PANEBL-14A-01D 219874 11 123813852 123813852 13 ALL diagnosis snv HSPH1 missense V8G NM_006644 10-PANEBL HSPH1 MISSENSE SNP Somatic PFAM:PF00012:HSP70 -6 0.056 SQHIGH 4 23 27 0 32 32 A A C A A TARGET-10-PANEBL-03A-01D TARGET-10-PANEBL-14A-01D 10808 13 31735697 31735697 14 ALL diagnosis snv POU5F1P4 EXON E5_exon NM_018489 10-PANEPX ASH1L|POU5F1P4 INTRON|UTR SNP Somatic -7 0.069 SQHIGH 8 49 57 2 60 62 Cosmic_Gene C C A C C TARGET-10-PANEPX-03A-01D TARGET-10-PANEPX-14A-01D 55870|645682 1 155403908 155403908 15 ALL diagnosis snv CCNI2 missense P78R NM_001039780 10-PANEPX CCNI2 MISSENSE SNP Somatic 5 0.206 SQHIGH 4 8 12 0 17 17 C C G C C TARGET-10-PANEPX-03A-01D TARGET-10-PANEPX-14A-01D 645121 5 132083420 132083420 17 ALL diagnosis snv CCNI2 missense R79Q NM_001039780 10-PANEPX CCNI2 MISSENSE SNP Somatic 1 0.141 SQHIGH 4 10 14 0 18 18 G G A G G TARGET-10-PANEPX-03A-01D TARGET-10-PANEPX-14A-01D 645121 5 132083423 132083423 16 ALL diagnosis snv MKI67 missense E1379K NM_002417 10-PANEPX MKI67 MISSENSE SNP Somatic PFAM:PF08065:K167R -5 0.081 SQHIGH 7 39 46 1 53 54 Cosmic_Gene C C T C C TARGET-10-PANEPX-03A-01D TARGET-10-PANEPX-14A-01D 4288 10 129905969 129905969 18 ALL diagnosis snv ASXL3 silent L1191L NM_030632 10-PANEPX ASXL3 SYNONYMOUS SNP Somatic 0 0.129 SQHIGH 7 27 34 2 43 45 Cosmic_Gene T T G T T TARGET-10-PANEPX-03A-01D TARGET-10-PANEPX-14A-01D 80816 18 31323385 31323385 15 ALL diagnosis snv KCTD3 missense R624L NM_016121 10-PANEUH KCTD3 MISSENSE SNP Somatic 14 0.535 SQHIGH 14 14 28 0 31 31 Cosmic_Gene G G T G G TARGET-10-PANEUH-09A-01D TARGET-10-PANEUH-14A-01D 51133 1 215792618 215792618 55 ALL diagnosis snv FRAS1 missense R3654C NM_025074 10-PANEUH FRAS1 MISSENSE SNP Somatic 2 0.129 SQHIGH 7 25 32 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANEUH-09A-01D TARGET-10-PANEUH-14A-01D 80144 4 79455637 79455637 21 ALL diagnosis snv TNXB missense G2264S NM_019105 10-PANEUH TNXB MISSENSE SNP Somatic PFAM:PF00041:fn3 2 0.129 SQHIGH 15 25 40 1 39 40 C C T C C TARGET-10-PANEUH-09A-01D TARGET-10-PANEUH-14A-01D 7148 6 32032649 32032649 42 ALL diagnosis snv LECT1 missense P24S NM_007015 10-PANEUH LECT1 MISSENSE SNP Somatic 12 0.414 SQHIGH 14 20 34 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANEUH-09A-01D TARGET-10-PANEUH-14A-01D 11061 13 53313767 53313767 52 ALL diagnosis snv ZNF114 missense C416Y NM_153608 10-PANEUH ZNF114 MISSENSE SNP Somatic 16 0.689 SQHIGH 21 19 40 0 56 56 G G A G G TARGET-10-PANEUH-09A-01D TARGET-10-PANEUH-14A-01D 163071 19 48790128 48790128 98 ALL diagnosis snv GATA5 missense R224Q NM_080473 10-PANEUH GATA5 MISSENSE SNP Somatic 1 0.115 SQHIGH 17 14 31 0 19 19 C C T C C TARGET-10-PANEUH-09A-01D TARGET-10-PANEUH-14A-01D 140628 20 61048487 61048487 46 ALL diagnosis snv TSPEAR silent P236P NM_144991 10-PANEUH TSPEAR SYNONYMOUS SNP Somatic 7 0.243 SQHIGH 14 31 45 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANEUH-09A-01D TARGET-10-PANEUH-14A-01D 54084 21 45949763 45949763 40 ALL diagnosis snv PCBP3 missense T333M NM_020528 10-PANEUH PCBP3 MISSENSE SNP Somatic 7 0.243 SQHIGH 24 55 79 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANEUH-09A-01D TARGET-10-PANEUH-14A-01D 54039 21 47360032 47360032 48 ALL diagnosis mnv C9orf50 missense G20_D21>GT NM_199350 10-PANEUH C9orf50 MISSENSE Sub Somatic -9 0.278 SQHIGH 3 10 13 0 23 23 Cosmic_Gene TCG TCG GTT TCG TCG TARGET-10-PANEUH-09A-01D TARGET-10-PANEUH-14A-01D 375759 9 132382792 132382794 14 ALL diagnosis snv PLXNB1 silent A798A NM_002673 10-PANFNZ PLXNB1 SYNONYMOUS SNP Somatic -6 0.053 SQHIGH 5 17 22 0 21 21 Cosmic_Gene T T A T T TARGET-10-PANFNZ-09A-01D TARGET-10-PANFNZ-14B-01D 5364 3 48461301 48461301 16 ALL diagnosis snv PCDH10 missense R490W NM_032961 10-PANFNZ PCDH10 MISSENSE SNP Somatic -6 0.053 SQHIGH 8 33 41 0 31 31 Cosmic_Gene C C T C C TARGET-10-PANFNZ-09A-01D TARGET-10-PANFNZ-14B-01D 57575 4 134072763 134072763 21 ALL diagnosis snv ANKRD32 silent L146L NM_032290 10-PANFNZ ANKRD32 SYNONYMOUS SNP Somatic 6 0.165 SQHIGH 8 13 21 0 28 28 Cosmic_Gene G G A G G TARGET-10-PANFNZ-09A-01D TARGET-10-PANFNZ-14B-01D 84250 5 93978984 93978984 33 ALL diagnosis snv ZNF354C silent T519T NM_014594 10-PANFNZ ZNF354C SYNONYMOUS SNP Somatic 14 0.483 SQHIGH 10 13 23 1 39 40 Cosmic_Gene G G A G G TARGET-10-PANFNZ-09A-01D TARGET-10-PANFNZ-14B-01D 30832 5 178506990 178506990 41 ALL diagnosis snv PSKH2 splice Y63_E1splice NM_033126 10-PANFNZ PSKH2 DONOR SNP Somatic -7 0.049 SQHIGH 7 43 50 0 42 42 Cosmic_Gene T T A T T TARGET-10-PANFNZ-09A-01D TARGET-10-PANFNZ-14B-01D 85481 8 87081664 87081664 19 ALL diagnosis snv ZPR1 missense I73T NM_003904 10-PANFNZ ZPR1 MISSENSE SNP Somatic 10 0.265 SQHIGH 12 24 36 0 33 33 A A G A A TARGET-10-PANFNZ-09A-01D TARGET-10-PANFNZ-14B-01D 8882 11 116658313 116658313 38 ALL diagnosis snv CHST9 missense K352T NM_031422 10-PANFNZ CHST9|CHST9-AS1 MISSENSE|INTRON SNP Somatic PFAM:PF03567:Sulfotransfer_2 12 0.350 SQHIGH 8 24 32 0 39 39 Cosmic_Gene T T G T T TARGET-10-PANFNZ-09A-01D TARGET-10-PANFNZ-14B-01D 83539|147429 18 24496500 24496500 30 ALL diagnosis snv LY75 missense W365R NM_002349 10-PANGIF LY75|LY75-CD302 MISSENSE|MISSENSE SNP Somatic 6 0.192 SQHIGH 8 27 35 1 35 36 A A T A A TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 4065|100526664 2 160738788 160738788 19 ALL diagnosis snv MAP3K1 missense S699N NM_005921 10-PANGIF MAP3K1 MISSENSE SNP Somatic -5 0.065 SQHIGH 5 30 35 0 27 27 Cosmic_Gene G G A G G TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 4214 5 56176546 56176546 13 ALL diagnosis snv ARHGEF28 missense T67M NM_001080479 10-PANGIF ARHGEF28 MISSENSE SNP Somatic 15 0.635 SQHIGH 45 37 82 0 74 74 C C T C C TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 64283 5 73048752 73048752 161 ALL diagnosis snv PDE6A missense R652H NM_000440 10-PANGIF PDE6A MISSENSE SNP Somatic PFAM:PF00233:PDEase_I PFAM:PF07514:TraI_2 14 0.523 SQHIGH 11 18 29 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 5145 5 149264114 149264114 42 ALL diagnosis snv OR4A5 missense R120P NM_001005272 10-PANGIF OR4A5 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -10 0.045 SQHIGH 15 51 66 0 60 60 Cosmic_Gene C C G C C TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 81318 11 51412037 51412037 46 ALL diagnosis snv ANKRD11 missense V454A NM_013275 10-PANGIF ANKRD11 MISSENSE SNP Somatic -10 0.045 SQHIGH 7 58 65 1 77 78 Cosmic_Gene A A G A A TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 29123 16 89351589 89351589 18 ALL diagnosis snv MUC16 missense V769I NM_024690 10-PANGIF MUC16 MISSENSE SNP Somatic 13 0.445 SQHIGH 31 32 63 0 45 45 Cosmic_Gene C C T C C TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 94025 19 9089510 9089510 91 ALL diagnosis snv MAGEB1 missense G187E NM_002363 10-PANGIF MAGEB1 MISSENSE SNP Somatic PFAM:PF01454:MAGE 16 0.710 SQHIGH 37 30 67 1 53 54 G G A G G TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 4112 X 30269170 30269170 109 ALL diagnosis snv SNX12 missense R10W NM_013346 10-PANGIF SNX12 MISSENSE SNP Somatic 18 0.889 SQHIGH 17 11 28 0 26 26 G G A G G TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 29934 X 70288129 70288129 63 ALL diagnosis complex ABCD1 frameshift G528fs NM_000033 10-PANGIF ABCD1 FRAMESHIFT Sub Somatic 0 0.578 SQHIGH 37 37 74 0 53 53 CG CG CTTA CG CG TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 215 X 153005638 153005639 109 ALL diagnosis snv PINK1-AS EXON E8_exon NM_032409 10-PANIEU PINK1 UTR3 SNP Somatic 7 0.200 SQHIGH 22 36 58 1 75 76 Cosmic_Gene G G A G G TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 65018 1 20977264 20977264 80 ALL diagnosis snv DPYD missense F707I NM_000110 10-PANIEU DPYD MISSENSE SNP Somatic -2 0.076 SQHIGH 13 17 30 0 40 40 Cosmic_Gene A A T A A TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 1806 1 97771793 97771793 56 ALL diagnosis snv CPZ silent D628D NM_001014447 10-PANIEU CPZ SYNONYMOUS SNP dbsnp.129:rs61734024 Somatic 19 0.946 SQHIGH 23 15 38 0 38 38 Cosmic_Gene C C T C C TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 8532 4 8621269 8621269 90 ALL diagnosis snv PRDM6 missense L258V NM_001136239 10-PANIEU PRDM6 MISSENSE SNP Somatic 10 0.285 SQHIGH 15 25 40 0 31 31 C C G C C TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 93166 5 122435528 122435528 44 ALL diagnosis snv TENM2 missense T346M NM_001122679 10-PANIEU TENM2 MISSENSE SNP Somatic PFAM:PF06484:Ten_N 0 0.092 SQHIGH 19 15 34 0 30 30 Cosmic_Gene C C T C C TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 57451 5 167420038 167420038 67 ALL diagnosis snv GOPC missense A110V NM_020399 10-PANIEU GOPC MISSENSE SNP Somatic 18 0.890 SQHIGH 16 13 29 0 31 31 Cosmic_Gene G G A G G TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 57120 6 117900184 117900184 63 ALL diagnosis snv CFTR missense I1384M NM_000492 10-PANIEU CFTR MISSENSE SNP Somatic 0 0.092 SQHIGH 5 25 30 0 26 26 Cosmic_Gene T T G T T TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 1080 7 117305528 117305528 14 ALL diagnosis snv KDM7A missense R473Q NM_030647 10-PANIEU KDM7A MISSENSE SNP Somatic 17 0.845 SQHIGH 14 23 37 0 40 40 Cosmic_Gene C C T C C TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 80853 7 139810905 139810905 51 ALL diagnosis snv ANK1 silent S888S NM_020476 10-PANIEU ANK1 SYNONYMOUS SNP Somatic 13 0.425 SQHIGH 20 24 44 1 52 53 Cosmic_Gene G G C G G TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 286 8 41554265 41554265 70 ALL diagnosis snv TRPM6 missense G296S NM_017662 10-PANIEU TRPM6 MISSENSE SNP dbsnp.132:rs113003674 Somatic 12 0.370 SQHIGH 16 26 42 0 50 50 Cosmic_Gene C C T C C TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 140803 9 77436709 77436709 63 ALL diagnosis snv FAT3 missense R1551Q NM_001008781 10-PANIEU FAT3 MISSENSE SNP Somatic 16 0.704 SQHIGH 19 23 42 0 43 43 Cosmic_Gene G G A G G TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 120114 11 92525973 92525973 70 ALL diagnosis snv PDZD2 silent D1013D NM_178140 10-PANJPG PDZD2 SYNONYMOUS SNP Somatic -4 0.084 SQHIGH 6 22 28 0 44 44 Cosmic_Gene C C T C C TARGET-10-PANJPG-03B-01D TARGET-10-PANJPG-14A-01D 23037 5 32074251 32074251 26 ALL diagnosis snv LNPEP missense M519T NM_005575 10-PANJPG LNPEP MISSENSE SNP Somatic -9 0.055 SQHIGH 4 27 31 0 37 37 Cosmic_Gene T T C T T TARGET-10-PANJPG-03B-01D TARGET-10-PANJPG-14A-01D 4012 5 96333752 96333752 14 ALL diagnosis snv CCDC30 missense L610F NM_001080850 10-PANJWJ CCDC30 MISSENSE SNP Somatic -9 0.044 SQHIGH 4 33 37 0 51 51 C C T C C TARGET-10-PANJWJ-09A-01D TARGET-10-PANJWJ-14A-01D 728621 1 43110416 43110416 15 ALL diagnosis snv PTPN12 missense S503P NM_002835 10-PANJWJ PTPN12 MISSENSE SNP Somatic -18 0.017 7 52 59 1 71 72 Cosmic_Gene T T C T T TARGET-10-PANJWJ-09A-01D TARGET-10-PANJWJ-14A-01D 5782 7 77256503 77256503 18 ALL diagnosis snv REXO1 missense V813A NM_020695 10-PANJWJ LOC100288123|MIR1909|REXO1 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE SNP Somatic -9 0.044 SQHIGH 4 22 26 0 43 43 A A G A A TARGET-10-PANJWJ-09A-01D TARGET-10-PANJWJ-14A-01D 100288123|100302210|57455 19 1820351 1820351 18 ALL diagnosis snv REXO1 missense K812T NM_020695 10-PANJWJ LOC100288123|MIR1909|REXO1 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE SNP Somatic -9 0.044 SQHIGH 4 24 28 0 42 42 T T G T T TARGET-10-PANJWJ-09A-01D TARGET-10-PANJWJ-14A-01D 100288123|100302210|57455 19 1820354 1820354 17 ALL diagnosis snv GPR108 silent G411G NM_001080452 10-PANJWJ GPR108 SYNONYMOUS SNP Somatic PFAM:PF06814:Lung_7-TM_R 0 0.095 SQHIGH 5 30 35 0 30 30 A A T A A TARGET-10-PANJWJ-09A-01D TARGET-10-PANJWJ-14A-01D 56927 19 6732059 6732059 14 ALL diagnosis mnv ADGB missense Q397P NM_024694 10-PANJWJ ADGB MISSENSE Sub Somatic -4 0.350 SQHIGH 4 19 23 0 29 29 Cosmic_Gene AG AG CC AG AG TARGET-10-PANJWJ-09A-01D TARGET-10-PANJWJ-14A-01D 79747 6 146997551 146997552 15 ALL relapse snv VPS13D splice R2733_E36splice NM_015378 10-PANKAK VPS13D DISRUPT SNP Somatic 12 0.496 SQHIGH 13 36 49 0 23 23 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 55187 1 12387912 12387912 24 ALL relapse snv IPO13 missense V276M NM_014652 10-PANKAK IPO13 MISSENSE SNP Somatic 4 0.196 SQHIGH 13 60 73 0 60 60 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 9670 1 44421996 44421996 36 ALL relapse snv TSHB missense G86E NM_000549 10-PANKAK TSHB MISSENSE SNP Somatic 8 0.343 SQHIGH 13 30 43 0 46 46 G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 7252 1 115576688 115576688 46 ALL relapse snv PROKR1 missense E270K NM_138964 10-PANKAK PROKR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.313 SQHIGH 19 44 63 0 51 51 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 10887 2 68882334 68882334 55 ALL relapse snv GLI2 missense V595L NM_005270 10-PANKAK GLI2 MISSENSE SNP Somatic 6 0.263 SQHIGH 23 63 86 0 99 99 Cosmic_Gene G G C G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 2736 2 121742146 121742146 84 ALL relapse snv ECEL1 splice_region V664_E15splice_region NM_004826 10-PANKAK ECEL1 ACCEPTOR SNP Somatic -6 0.070 SQHIGH 11 57 68 0 70 70 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 9427 2 233345872 233345872 36 ALL relapse snv COL6A3 silent T2744T NM_004369 10-PANKAK COL6A3 SYNONYMOUS SNP Somatic 5 0.222 SQHIGH 12 38 50 0 42 42 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 1293 2 238249327 238249327 35 ALL relapse snv KIAA1524 missense Q49H NM_020890 10-PANKAK DZIP3|KIAA1524 TSS-UPSTREAM|MISSENSE SNP Somatic 13 0.543 SQHIGH 10 28 38 0 47 47 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 9666|57650 3 108304015 108304015 38 ALL relapse snv KIAA1524 silent R43R NM_020890 10-PANKAK DZIP3|KIAA1524 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 12 0.496 SQHIGH 12 30 42 0 39 39 Cosmic_Gene G G T G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 9666|57650 3 108304035 108304035 38 ALL relapse snv DNAJC13 missense T364M NM_015268 10-PANKAK DNAJC13 MISSENSE SNP Somatic 13 0.543 SQHIGH 17 32 49 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 23317 3 132175237 132175237 50 ALL relapse snv EHHADH missense R196G NM_001966 10-PANKAK EHHADH MISSENSE SNP Somatic 8 0.343 SQHIGH 10 33 43 0 39 39 Cosmic_Gene G G C G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 1962 3 184922528 184922528 30 ALL relapse snv C5orf42 missense R216Q NM_023073 10-PANKAK C5orf42 MISSENSE SNP Somatic 4 0.196 SQHIGH 7 14 21 0 26 26 Cosmic_Gene C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 65250 5 37243145 37243145 27 ALL relapse snv HCN1 missense A773V NM_021072 10-PANKAK HCN1 MISSENSE SNP Somatic 10 0.406 SQHIGH 28 29 57 1 42 43 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 348980 5 45262378 45262378 73 ALL relapse snv PLK2 silent V623V NM_006622 10-PANKAK PLK2 SYNONYMOUS SNP Somatic PFAM:PF00659:POLO_box 17 0.873 SQHIGH 22 14 36 0 38 38 Cosmic_Gene C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 10769 5 57750599 57750599 90 ALL relapse snv ATP10B silent L966L NM_025153 10-PANKAK ATP10B SYNONYMOUS SNP Somatic 11 0.449 SQHIGH 16 31 47 0 54 54 Cosmic_Gene T T A T T TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 23120 5 160034034 160034034 60 ALL relapse snv RING1 missense G177R NM_002931 10-PANKAK RING1 MISSENSE SNP Somatic 3 0.173 SQHIGH 6 28 34 0 24 24 Cosmic_Gene G G C G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 6015 6 33179008 33179008 15 ALL relapse snv SIM1 nonsense R548* NM_005068 10-PANKAK SIM1 NONSENSE SNP Somatic PFAM:PF06621:SIM_C 7 0.313 SQHIGH 19 31 50 0 33 33 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 6492 6 100838896 100838896 49 ALL relapse snv TAX1BP1 missense T37A NM_006024 10-PANKAK TAX1BP1 UTR5,MISSENSE SNP Somatic PFAM:PF07888:CALCOCO1 -2 0.098 SQHIGH 5 15 20 0 15 15 Cosmic_Gene A A G A A TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 8887 7 27788252 27788252 13 ALL relapse snv SCRN1 silent S192S NM_001145513 10-PANKAK SCRN1 SYNONYMOUS SNP Somatic PFAM:PF03577:Peptidase_C69 10 0.406 SQHIGH 8 20 28 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 9805 7 29980461 29980461 33 ALL relapse snv KIAA1324L missense R580W NM_001142749 10-PANKAK KIAA1324L MISSENSE,UTR SNP Somatic 11 0.449 SQHIGH 12 36 48 0 61 61 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 222223 7 86542514 86542514 47 ALL relapse snv SMURF1 silent S271S NM_020429 10-PANKAK SMURF1 SYNONYMOUS,INTRON SNP Somatic 1 0.134 SQHIGH 9 42 51 0 31 31 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 57154 7 98648609 98648609 20 ALL relapse snv CDHR3 missense I687S NM_152750 10-PANKAK CDHR3 MISSENSE SNP Somatic 3 0.173 SQHIGH 19 83 102 0 66 66 Cosmic_Gene T T G T T TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 222256 7 105662878 105662878 44 ALL relapse snv CTTNBP2 silent P670P NM_033427 10-PANKAK CTTNBP2 SYNONYMOUS SNP Somatic -2 0.098 SQHIGH 15 57 72 0 82 82 Cosmic_Gene G G C G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 83992 7 117431240 117431240 53 ALL relapse snv DMTN missense V76M NM_001978 10-PANKAK DMTN MISSENSE SNP Somatic 5 0.222 SQHIGH 17 49 66 0 60 60 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 2039 8 21925170 21925170 53 ALL relapse snv GSR missense V367L NM_000637 10-PANKAK GSR MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD 4 0.196 SQHIGH 15 50 65 0 64 64 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 2936 8 30541659 30541659 49 ALL relapse snv CSPP1 missense R276H NM_024790 10-PANKAK CSPP1 MISSENSE SNP Somatic 14 0.612 SQHIGH 11 28 39 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 79848 8 68007844 68007844 30 ALL relapse snv CPA6 nonsense R92* NM_020361 10-PANKAK CPA6 NONSENSE SNP Somatic PFAM:PF02244:Propep_M14 10 0.406 SQHIGH 19 25 44 0 31 31 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 57094 8 68430201 68430201 53 ALL relapse snv CTHRC1 missense R193G NM_138455 10-PANKAK CTHRC1 MISSENSE SNP Somatic 5 0.222 SQHIGH 16 36 52 0 39 39 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 115908 8 104390459 104390459 44 ALL relapse snv KLHL38 silent A167A NM_001081675 10-PANKAK KLHL38 SYNONYMOUS SNP Somatic PFAM:PF07707:BACK 3 0.173 SQHIGH 16 57 73 1 54 55 G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 340359 8 124664666 124664666 33 ALL relapse snv FAM83H missense R409P NM_198488 10-PANKAK FAM83H MISSENSE SNP Somatic 3 0.173 SQHIGH 6 25 31 0 42 42 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 286077 8 144810405 144810405 24 ALL relapse snv FAM120A missense R270W NM_014612 10-PANKAK FAM120A MISSENSE SNP Somatic 12 0.496 SQHIGH 23 22 45 0 74 74 C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 23196 9 96259756 96259756 117 ALL relapse snv ASS1 missense A202V NM_000050 10-PANKAK ASS1 MISSENSE SNP Somatic 17 0.873 SQHIGH 36 24 60 0 93 93 Cosmic_Gene C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 445 9 133352265 133352265 186 ALL relapse snv NELFB missense M106I NM_015456 10-PANKAK LOC100129722|COBRA1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF06209:COBRA1 17 0.873 SQHIGH 24 17 41 0 93 93 G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 100129722|25920 9 140150832 140150832 151 ALL relapse snv SLC39A12-AS1 EXON E11_exon NM_001145195 10-PANKAK SLC39A12|LOC100129213 INTRON|UTR SNP Somatic -7 0.064 SQHIGH 6 26 32 0 30 30 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 221074|100129213 10 18291428 18291428 18 ALL relapse snv ANK3 missense R4123P NM_020987 10-PANKAK ANK3 MISSENSE SNP Somatic 5 0.222 SQHIGH 7 17 24 0 28 28 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 288 10 61823998 61823998 26 ALL relapse snv STOX1 silent T780T NM_152709 10-PANKAK STOX1 SYNONYMOUS,INTRON SNP Somatic 7 0.313 SQHIGH 15 45 60 0 62 62 Cosmic_Gene C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 219736 10 70645892 70645892 51 ALL relapse snv CPN1 silent D132D NM_001308 10-PANKAK CPN1 SYNONYMOUS SNP Somatic 3 0.173 SQHIGH 20 29 49 0 43 43 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 1369 10 101835692 101835692 65 ALL relapse snv CNNM2 missense V345M NM_017649 10-PANKAK CNNM2 MISSENSE SNP Somatic PFAM:PF01595:DUF21 15 0.711 SQHIGH 12 23 35 0 43 43 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 54805 10 104679270 104679270 47 ALL relapse snv RIC3 missense R69K NM_024557 10-PANKAK RIC3 INTRON,MISSENSE SNP Somatic 0 0.120 SQHIGH 7 39 46 0 31 31 Cosmic_Gene C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 79608 11 8161659 8161659 17 ALL relapse snv DSCAML1 missense R35H NM_020693 10-PANKAK DSCAML1 MISSENSE SNP Somatic 0 0.120 SQHIGH 9 39 48 0 38 38 Cosmic_Gene C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 57453 11 117667871 117667871 24 ALL relapse snv PPFIBP1 splice_region D528_E18splice_region NM_003622 10-PANKAK PPFIBP1 DONOR SNP Somatic 15 0.711 SQHIGH 54 24 78 1 68 69 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 8496 12 27829537 27829537 193 ALL relapse snv DENND5B missense Y1188C NM_144973 10-PANKAK DENND5B MISSENSE SNP Somatic PFAM:PF02759:RUN 5 0.222 SQHIGH 20 33 53 0 34 34 Cosmic_Gene T T C T T TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 160518 12 31542336 31542336 51 ALL relapse snv GXYLT1 missense V324L NM_173601 10-PANKAK GXYLT1 MISSENSE SNP Somatic -2 0.098 SQHIGH 5 28 33 0 30 30 C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 283464 12 42491730 42491730 15 ALL relapse snv NCKAP5L silent P182P NM_001037806 10-PANKAK NCKAP5L SYNONYMOUS SNP Somatic -4 0.082 SQHIGH 16 30 46 0 40 40 Cosmic_Gene C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 57701 12 50191097 50191097 50 ALL relapse snv APAF1 missense R597S NM_013229 10-PANKAK APAF1 INTRON,MISSENSE SNP Somatic 10 0.406 SQHIGH 9 30 39 0 49 49 Cosmic_Gene C C A C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 317 12 99071231 99071231 34 ALL relapse snv CCDC168 missense T1689M NM_001146197 10-PANKAK CCDC168 MISSENSE SNP Somatic 11 0.449 SQHIGH 41 21 62 0 71 71 G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 643677 13 103397981 103397981 183 ALL relapse snv SLC22A17 missense F67L NM_020372 10-PANKAK SLC22A17 MISSENSE SNP Somatic 7 0.313 SQHIGH 24 73 97 0 89 89 A A G A A TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 51310 14 23821225 23821225 75 ALL relapse snv SAMD4A missense L55P NM_015589 10-PANKAK SAMD4A MISSENSE SNP Somatic -4 0.082 SQHIGH 4 17 21 0 29 29 T T C T T TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 23034 14 55034798 55034798 16 ALL relapse snv SERPINA5 missense R232L NM_000624 10-PANKAK SERPINA5 MISSENSE SNP Somatic 3 0.173 SQHIGH 14 48 62 0 76 76 Cosmic_Gene G G T G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 5104 14 95056453 95056453 53 ALL relapse snv ATP10A missense C1004S NM_024490 10-PANKAK ATP10A MISSENSE SNP Somatic -9 0.054 SQHIGH 4 16 20 0 43 43 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 57194 15 25940043 25940043 21 ALL relapse snv ARMC5 missense R9L NM_001288767 10-PANKAK LOC100507110|ARMC5 TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 12 0.496 SQHIGH 20 27 47 0 52 52 Cosmic_Gene G G T G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 100507110|79798 16 31469743 31469743 76 ALL relapse snv TP53 missense R282G NM_000546 10-PANKAK TP53 MISSENSE SNP Somatic 15 0.711 SQHIGH 52 2 54 0 52 52 COSMIC:mut:99934,COSMIC:mut:10992 Cosmic_Gene G C C G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 7157 17 7577094 7577094 276 ALL relapse snv LOC101928418 EXON E1_exon NM_001146312 10-PANKAK MYOCD INTRON SNP Somatic 5 0.222 SQHIGH 17 41 58 0 51 51 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 93649 17 12575222 12575222 52 ALL relapse snv SPECC1 missense S807N NM_001033553 10-PANKAK SPECC1 MISSENSE SNP Somatic -6 0.070 SQHIGH 8 49 57 1 59 60 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 92521 17 20149307 20149307 19 ALL relapse snv SDF2 missense R73Q NM_006923 10-PANKAK SDF2 MISSENSE SNP Somatic 0 0.120 SQHIGH 7 38 45 0 50 50 C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 6388 17 26982435 26982435 24 ALL relapse snv LHX1 silent T90T NM_005568 10-PANKAK LHX1 SYNONYMOUS SNP Somatic 17 0.873 SQHIGH 17 15 32 0 24 24 Cosmic_Gene C C A C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 3975 17 35297686 35297686 52 ALL relapse snv DSG3 silent A783A NM_001944 10-PANKAK DSG3 SYNONYMOUS SNP Somatic 5 0.222 SQHIGH 22 44 66 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 1830 18 29054331 29054331 65 ALL relapse snv EBI3 silent I42I NM_005755 10-PANKAK EBI3 SYNONYMOUS SNP Somatic 13 0.543 SQHIGH 25 19 44 1 42 43 C C T C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 10148 19 4231246 4231246 82 ALL relapse snv FBN3 missense S2779T NM_032447 10-PANKAK FBN3 MISSENSE SNP Somatic 3 0.173 SQHIGH 7 30 37 0 44 44 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 84467 19 8130897 8130897 25 ALL relapse snv SLC8A2 missense R395C NM_015063 10-PANKAK SLC8A2 MISSENSE SNP Somatic 7 0.313 SQHIGH 18 45 63 1 63 64 Cosmic_Gene G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 6543 19 47960344 47960344 50 ALL relapse snv SON silent P412P NM_032195 10-PANKAK SON SYNONYMOUS SNP Somatic PFAM:PF12526:DUF3729 2 0.153 SQHIGH 23 98 121 0 64 64 Cosmic_Gene G G T G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 6651 21 34922773 34922773 46 ALL relapse snv DOPEY2 missense P1576A NM_005128 10-PANKAK DOPEY2 MISSENSE SNP Somatic 4 0.196 SQHIGH 11 44 55 0 47 47 Cosmic_Gene C C G C C TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 9980 21 37619843 37619843 32 ALL relapse snv PNPLA5 missense H109L NM_138814 10-PANKAK PNPLA5 INTRON,MISSENSE SNP Somatic -6 0.070 SQHIGH 8 51 59 0 42 42 T T A T T TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 150379 22 44287042 44287042 20 ALL relapse snv PNPLA5 missense A108V NM_138814 10-PANKAK PNPLA5 INTRON,MISSENSE SNP Somatic -3 0.089 SQHIGH 8 37 45 0 36 36 G G A G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 150379 22 44287045 44287045 22 ALL relapse mnv MYC missense T73H NM_002467 10-PANKAK MYC MISSENSE Sub Somatic PFAM:PF01056:Myc_N -1 0.578 SQHIGH 49 22 71 1 50 51 Cosmic_Gene AC AC CA AC AC TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 4609 8 128750680 128750681 149 ALL relapse mnv WDFY4 missense S2637F NM_020945 10-PANKAK WDFY4 MISSENSE Sub Somatic -4 0.404 SQHIGH 17 38 55 0 67 67 CG CG TC CG CG TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 57705 10 50154947 50154948 66 ALL diagnosis snv TSHB missense G86E NM_000549 10-PANKAK TSHB MISSENSE SNP Somatic 6 0.221 SQHIGH 20 30 50 0 46 46 G G A G G TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 7252 1 115576688 115576688 67 ALL diagnosis snv PLK2 silent V623V NM_006622 10-PANKAK PLK2 SYNONYMOUS SNP Somatic PFAM:PF00659:POLO_box 14 0.579 SQHIGH 26 27 53 0 38 38 Cosmic_Gene C C T C C TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 10769 5 57750599 57750599 76 ALL diagnosis snv ELOVL7 silent S89S NM_024930 10-PANKAK ELOVL7 SYNONYMOUS SNP Somatic PFAM:PF01151:ELO 2 0.124 SQHIGH 4 11 15 0 24 24 A A C A A TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 79993 5 60063719 60063719 18 ALL diagnosis snv SCRN1 silent S192S NM_001145513 10-PANKAK SCRN1 SYNONYMOUS SNP Somatic PFAM:PF03577:Peptidase_C69 1 0.110 SQHIGH 13 44 57 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 9805 7 29980461 29980461 32 ALL diagnosis snv KIAA1324L missense R580W NM_001142749 10-PANKAK KIAA1324L MISSENSE,UTR SNP Somatic 1 0.110 SQHIGH 9 44 53 0 61 61 Cosmic_Gene G G A G G TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 222223 7 86542514 86542514 32 ALL diagnosis snv CSMD1 missense T2790M NM_033225 10-PANKAK CSMD1 MISSENSE SNP Somatic -9 0.046 SQHIGH 9 42 51 0 44 44 Cosmic_Gene G G A G G TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 64478 8 2855541 2855541 26 ALL diagnosis snv ASS1 missense A202V NM_000050 10-PANKAK ASS1 MISSENSE SNP Somatic 6 0.221 SQHIGH 23 40 63 0 93 93 Cosmic_Gene C C T C C TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 445 9 133352265 133352265 103 ALL diagnosis snv CPN1 silent D132D NM_001308 10-PANKAK CPN1 SYNONYMOUS SNP Somatic 3 0.140 SQHIGH 15 30 45 0 43 43 Cosmic_Gene G G A G G TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 1369 10 101835692 101835692 50 ALL diagnosis snv DCPS missense D16E NM_014026 10-PANKAK DCPS MISSENSE SNP Somatic -7 0.055 SQHIGH 8 53 61 1 69 70 C C A C C TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 28960 11 126174023 126174023 20 ALL diagnosis snv PPFIBP1 splice_region D528_E18splice_region NM_003622 10-PANKAK PPFIBP1 DONOR SNP Somatic 3 0.140 SQHIGH 25 56 81 1 68 69 Cosmic_Gene G G A G G TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 8496 12 27829537 27829537 64 ALL diagnosis snv CCDC168 missense T1689M NM_001146197 10-PANKAK CCDC168 MISSENSE SNP Somatic 6 0.221 SQHIGH 31 46 77 0 71 71 G G A G G TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 643677 13 103397981 103397981 104 ALL diagnosis snv YY1 missense S166P NM_003403 10-PANKAK YY1 MISSENSE SNP Somatic -10 0.043 SQHIGH 6 16 22 0 16 16 T T C T T TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 7528 14 100706077 100706077 16 ALL diagnosis snv ARMC5 missense R9L NM_001288767 10-PANKAK LOC100507110|ARMC5 TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 13 0.504 SQHIGH 22 21 43 0 52 52 Cosmic_Gene G G T G G TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 100507110|79798 16 31469743 31469743 93 ALL diagnosis snv TP53 missense R282G NM_000546 10-PANKAK TP53 MISSENSE SNP Somatic 19 0.957 SQHIGH 24 9 33 0 52 52 COSMIC:mut:99934,COSMIC:mut:10992 Cosmic_Gene G G C G G TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 7157 17 7577094 7577094 134 ALL diagnosis snv EBI3 silent I42I NM_005755 10-PANKAK EBI3 SYNONYMOUS SNP Somatic 6 0.221 SQHIGH 16 42 58 1 42 43 C C T C C TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 10148 19 4231246 4231246 33 ALL diagnosis snv KREMEN1 silent I206I NM_032045 10-PANKAK KREMEN1 SYNONYMOUS SNP Somatic 1 0.110 SQHIGH 14 77 91 0 62 62 Cosmic_Gene C C A C C TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 83999 22 29521391 29521391 34 ALL diagnosis mnv MYC missense T73H NM_002467 10-PANKAK MYC MISSENSE Sub Somatic PFAM:PF01056:Myc_N -3 0.428 SQHIGH 21 25 46 1 50 51 Cosmic_Gene AC AC CA AC AC TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 4609 8 128750680 128750681 70 ALL diagnosis snv NRAS missense G13D NM_002524 10-PANKDT NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic -15 0.025 4 35 39 0 44 44 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 4893 1 115258744 115258744 13 ALL diagnosis snv NLRC4 missense D863G NM_021209 10-PANKDT NLRC4 MISSENSE SNP Somatic 6 0.175 SQHIGH 19 23 42 0 46 46 Cosmic_Gene T T C T T TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 58484 2 32461342 32461342 73 ALL diagnosis snv CELSR3 missense R2918Q NM_001407 10-PANKDT CELSR3 MISSENSE SNP Somatic 6 0.175 SQHIGH 17 35 52 0 45 45 Cosmic_Gene C C T C C TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 1951 3 48679355 48679355 52 ALL diagnosis snv ROBO2 missense K342E NM_001290039 10-PANKDT ROBO2 MISSENSE SNP Somatic PFAM:PF00047:ig 13 0.421 SQHIGH 17 15 32 0 33 33 Cosmic_Gene A A G A A TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 6092 3 77595566 77595566 65 ALL diagnosis snv RASGRF2 silent N1091N NM_006909 10-PANKDT RASGRF2 SYNONYMOUS SNP dbsnp.134:rs145905719 Somatic -8 0.047 SQHIGH 6 36 42 0 43 43 Cosmic_Gene C C T C C TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 5924 5 80508301 80508301 19 ALL diagnosis snv IKBKB missense N109S NM_001556 10-PANKDT IKBKB MISSENSE,UTR SNP Somatic PFAM:PF03109:ABC1 6 0.175 SQHIGH 6 22 28 0 34 34 Cosmic_Gene A A G A A TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 3551 8 42150968 42150968 22 ALL diagnosis snv ZNF623 missense V502I NM_014789 10-PANKDT ZNF623 MISSENSE SNP Somatic -2 0.078 SQHIGH 10 44 54 0 57 57 G G A G G TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 9831 8 144733546 144733546 33 ALL diagnosis snv ORM1 missense R101W NM_000607 10-PANKDT ORM1 MISSENSE SNP dbsnp.134:rs141803745 Somatic PFAM:PF00061:Lipocalin 14 0.494 SQHIGH 19 29 48 0 51 51 C C T C C TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 5004 9 117086341 117086341 70 ALL diagnosis snv TMEM26 missense I214M NM_178505 10-PANKDT TMEM26 MISSENSE SNP Somatic PFAM:PF09772:Tmem26 13 0.421 SQHIGH 18 20 38 0 32 32 T T C T T TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 219623 10 63173257 63173257 58 ALL diagnosis snv OPCML missense R65W NM_002545 10-PANKDT LOC100128095|OPCML UTR|MISSENSE SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set -2 0.078 SQHIGH 21 18 39 0 48 48 Cosmic_Gene G G A G G TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 100128095|4978 11 132527189 132527189 91 ALL diagnosis snv CARKD missense A340V NM_001242881 10-PANKDT CARKD SYNONYMOUS,MISSENSE,UTR SNP Somatic -6 0.056 SQHIGH 6 29 35 0 47 47 Cosmic_Gene C C T C C TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 55739 13 111290850 111290850 23 ALL diagnosis snv AGBL1 missense T719M NM_152336 10-PANKDT AGBL1 MISSENSE SNP Somatic PFAM:PF00246:Peptidase_M14 11 0.315 SQHIGH 13 27 40 0 36 36 C C T C C TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 123624 15 86838559 86838559 41 ALL diagnosis snv FURIN missense S287Y NM_002569 10-PANKDT FURIN MISSENSE SNP Somatic 6 0.175 SQHIGH 15 40 55 0 36 36 Cosmic_Gene C C A C C TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 5045 15 91422013 91422013 37 ALL diagnosis snv SYT17 missense A134D NM_016524 10-PANKDT SYT17 MISSENSE SNP Somatic 5 0.154 SQHIGH 22 27 49 0 45 45 Cosmic_Gene C C A C C TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 51760 16 19194919 19194919 75 ALL diagnosis snv ZCCHC2 missense G1013A NM_017742 10-PANKDT ZCCHC2 MISSENSE SNP Somatic 1 0.105 SQHIGH 7 12 19 0 20 20 Cosmic_Gene G G C G G TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 54877 18 60242352 60242352 25 ALL diagnosis snv XKR7 missense R285W NM_001011718 10-PANKDT XKR7 MISSENSE SNP Somatic PFAM:PF09815:XK-related 0 0.095 SQHIGH 10 10 20 0 18 18 Cosmic_Gene C C T C C TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 343702 20 30584373 30584373 34 ALL diagnosis snv MAGIX missense A102S NM_024859 10-PANKDT MAGIX INTRON,MISSENSE SNP Somatic 16 0.669 SQHIGH 32 35 67 0 52 52 G G T G G TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 79917 X 49021225 49021225 99 ALL diagnosis complex PPM1L proteinIns E3>MIIN NM_139245 10-PANKDT PPM1L INSERT+ Sub Somatic -10 0.248 SQHIGH 6 34 40 0 34 34 Cosmic_Gene AGAG AGAG AATGATAATAAAT AGAG AGAG TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 151742 3 160474102 160474105 17 ALL diagnosis complex CAND1 splice R285_E7splice NM_018448 10-PANKDT CAND1 ACCEPTOR Sub Somatic -2 0.460 SQHIGH 22 34 56 0 39 39 Cosmic_Gene TT TT TGG TT TT TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 55832 12 67692726 67692727 60 ALL diagnosis snv CELA2A silent F237F NM_033440 10-PANKGK CELA2A SYNONYMOUS SNP dbsnp.134:rs139658313 Somatic 11 0.301 SQHIGH 23 30 53 0 40 40 Cosmic_Gene C C T C C TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 63036 1 15793952 15793952 68 ALL diagnosis snv NRAS missense Q61P NM_002524 10-PANKGK NRAS MISSENSE SNP dbsnp.120:rs11554290 Somatic 13 0.408 SQHIGH 10 26 36 0 42 42 COSMIC:mut:582 Cosmic_Gene T T G T T TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 4893 1 115256529 115256529 37 ALL diagnosis snv MPZ silent L184L NM_000530 10-PANKGK MPZ SYNONYMOUS SNP Somatic PFAM:PF10570:Myelin-PO_C -5 0.056 SQHIGH 4 12 16 0 17 17 Cosmic_Gene G G A G G TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 4359 1 161276153 161276153 14 ALL diagnosis snv CAPN14 missense V490L NM_001145122 10-PANKGK CAPN14 MISSENSE SNP Somatic 7 0.184 SQHIGH 31 37 68 0 72 72 C C G C C TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 440854 2 31412164 31412164 117 ALL diagnosis snv HOXD1 silent S73S NM_024501 10-PANKGK HOXD1|LOC401022 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -4 0.061 SQHIGH 7 13 20 0 17 17 C C T C C TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 3231|401022 2 177053748 177053748 21 ALL diagnosis snv GYG1 nonsense R216* NM_004130 10-PANKGK GYG1 INTRON,NONSENSE SNP Somatic 14 0.482 SQHIGH 18 31 49 0 55 55 Cosmic_Gene C C T C C TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 2992 3 148741877 148741877 68 ALL diagnosis snv MTTP missense E468K NM_000253 10-PANKGK MTTP MISSENSE SNP Somatic PFAM:PF01347:Vitellogenin_N -7 0.048 SQHIGH 4 14 18 0 22 22 Cosmic_Gene G G A G G TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 4547 4 100527962 100527962 15 ALL diagnosis snv SLC52A2 silent A288A NM_024531 10-PANKGK FBXL6|GPR172A TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF06237:DUF1011 -7 0.048 SQHIGH 14 14 28 0 24 24 Cosmic_Gene G G A G G TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 26233|79581 8 145584016 145584016 46 ALL diagnosis snv TET1 missense S185I NM_030625 10-PANKGK TET1 MISSENSE SNP Somatic 9 0.232 SQHIGH 12 29 41 0 52 52 Cosmic_Gene G G T G G TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 80312 10 70332649 70332649 47 ALL diagnosis snv TET1 silent S1086S NM_030625 10-PANKGK TET1 SYNONYMOUS SNP Somatic 14 0.482 SQHIGH 16 28 44 0 60 60 Cosmic_Gene G G A G G TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 80312 10 70405744 70405744 68 ALL diagnosis snv ADAMTS17 missense G329R NM_139057 10-PANKGK ADAMTS17 MISSENSE SNP Somatic 11 0.301 SQHIGH 15 21 36 1 33 34 Cosmic_Gene C C T C C TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 170691 15 100801730 100801730 41 ALL diagnosis snv STK4 nonsense W99* NM_006282 10-PANKGK STK4 NONSENSE SNP Somatic 15 0.575 SQHIGH 8 14 22 0 26 26 Cosmic_Gene G G A G G TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 6789 20 43610520 43610520 31 ALL diagnosis mnv MTTP missense D469Q NM_000253 10-PANKGK MTTP MISSENSE Sub Somatic PFAM:PF01347:Vitellogenin_N -10 0.242 SQHIGH 4 17 21 0 24 24 Cosmic_Gene GAC GAC CAG GAC GAC TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 4547 4 100527965 100527967 14 ALL diagnosis snv BAI2 missense N893D NM_001294335 10-PANKMB BAI2 MISSENSE SNP Somatic PFAM:PF01825:GPS 10 0.321 SQHIGH 13 16 29 0 44 44 Cosmic_Gene T T C T T TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 576 1 32203896 32203896 61 ALL diagnosis snv PGM1 silent Y430Y NM_002633 10-PANKMB PGM1 SYNONYMOUS SNP dbsnp.134:rs140357031 Somatic PFAM:PF02880:PGM_PMM_III 13 0.456 SQHIGH 10 26 36 1 50 51 Cosmic_Gene C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 5236 1 64117349 64117349 33 ALL diagnosis snv TBX15 nonsense R298* NM_152380 10-PANKMB TBX15 NONSENSE SNP Somatic 19 0.940 SQHIGH 17 21 38 0 61 61 Cosmic_Gene G G A G G TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 6913 1 119427954 119427954 83 ALL diagnosis snv ELF3 silent P181P NM_004433 10-PANKMB LOC100289488|ELF3 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 10 0.321 SQHIGH 16 12 28 1 39 40 C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 100289488|1999 1 201981832 201981832 66 ALL diagnosis snv FSIP2 silent L1406L NM_173651 10-PANKMB FSIP2 SYNONYMOUS SNP Somatic -10 0.050 SQHIGH 6 28 34 0 29 29 A A T A A TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 401024 2 186655814 186655814 17 ALL diagnosis snv PLD1 missense R700C NM_002662 10-PANKMB PLD1 MISSENSE SNP Somatic 8 0.258 SQHIGH 7 21 28 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 5337 3 171394522 171394522 30 ALL diagnosis snv MTNR1A missense K56N NM_005958 10-PANKMB MTNR1A MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -3 0.090 SQHIGH 5 21 26 1 44 45 Cosmic_Gene C C G C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 4543 4 187476352 187476352 17 ALL diagnosis snv ELFN1 missense G673V NM_001128636 10-PANKMB ELFN1|LOC100505644 MISSENSE|TSS-UPSTREAM SNP Somatic -6 0.070 SQHIGH 5 11 16 0 36 36 G G T G G TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 392617|100505644 7 1786250 1786250 28 ALL diagnosis snv COPS6 missense E95D NM_006833 10-PANKMB COPS6 MISSENSE SNP Somatic 12 0.403 SQHIGH 18 19 37 1 49 50 A A C A A TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 10980 7 99687320 99687320 69 ALL diagnosis snv SMO missense S96P NM_005631 10-PANKMB SMO MISSENSE SNP Somatic -8 0.059 SQHIGH 4 12 16 0 19 19 Cosmic_Gene T T C T T TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 6608 7 128829278 128829278 15 ALL diagnosis snv KDM7A silent D609D NM_030647 10-PANKMB KDM7A SYNONYMOUS SNP Somatic -10 0.050 SQHIGH 5 31 36 0 27 27 Cosmic_Gene A A G A A TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 80853 7 139798770 139798770 13 ALL diagnosis snv FGFR1 missense R445W NM_023110 10-PANKMB FGFR1 MISSENSE SNP Somatic 12 0.403 SQHIGH 9 20 29 1 47 48 Cosmic_Gene G G A G G TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 2260 8 38275843 38275843 33 ALL diagnosis snv PKHD1L1 silent G2609G NM_177531 10-PANKMB PKHD1L1 SYNONYMOUS SNP Somatic 11 0.357 SQHIGH 8 13 21 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 93035 8 110476888 110476888 41 ALL diagnosis snv OC90 missense L429P NM_001080399 10-PANKMB OC90 MISSENSE SNP Somatic 1 0.132 SQHIGH 5 13 18 1 25 26 Cosmic_Gene A A G A A TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 729330 8 133036876 133036876 15 ALL diagnosis snv MPDZ silent A1306A NM_003829 10-PANKMB MPDZ SYNONYMOUS SNP Somatic 12 0.403 SQHIGH 8 7 15 0 20 20 Cosmic_Gene G G A G G TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 8777 9 13140071 13140071 36 ALL diagnosis snv DNAJC9-AS1 EXON E23_exon NM_145170 10-PANKMB C10orf103|TTC18 UTR|INTRON SNP Somatic 12 0.403 SQHIGH 11 22 33 0 45 45 Cosmic_Gene C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 414245|118491 10 75035185 75035185 46 ALL diagnosis snv DDIAS missense K62E NM_145018 10-PANKMB DDIAS MISSENSE SNP Somatic 14 0.529 SQHIGH 8 17 25 0 30 30 Cosmic_Gene A A G A A TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 220042 11 82639889 82639889 31 ALL diagnosis snv PTPN6 missense T132M NM_002831 10-PANKMB PTPN6 MISSENSE SNP Somatic 8 0.258 SQHIGH 12 8 20 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 5777 12 7064036 7064036 63 ALL diagnosis snv SLC15A5 missense M321I NM_001170798 10-PANKMB SLC15A5 MISSENSE SNP Somatic 12 0.403 SQHIGH 10 24 34 0 49 49 C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 729025 12 16397526 16397526 43 ALL diagnosis snv CHURC1-FNTB,RAB15 splice W62_E3splice NM_198686 10-PANKMB CHURC1-FNTB|RAB15 INTRON|ACCEPTOR SNP Somatic 15 0.593 SQHIGH 14 20 34 0 48 48 Cosmic_Gene G G A G G TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 100529261|376267 14 65418384 65418384 62 ALL diagnosis snv AHSA1 missense R321Q NM_012111 10-PANKMB AHSA1 MISSENSE SNP Somatic 13 0.456 SQHIGH 7 17 25 1 45 46 G G A G G TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 10598 14 77935537 77935537 28 ALL diagnosis snv ITGAL silent G32G NM_002209 10-PANKMB ITGAL SYNONYMOUS SNP Somatic -36 0.002 4 14 18 1 33 34 Cosmic_Gene C C G C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 3683 16 30485551 30485551 14 ALL diagnosis snv IRX6 silent D271D NM_024335 10-PANKMB IRX6 SYNONYMOUS SNP dbsnp.134:rs146683202 Somatic 8 0.258 SQHIGH 7 20 27 0 32 32 Cosmic_Gene C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 79190 16 55362703 55362703 26 ALL diagnosis snv ZBTB4 silent P10P NM_020899 10-PANKMB ZBTB4 SYNONYMOUS SNP Somatic 6 0.213 SQHIGH 7 21 28 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 57659 17 7370091 7370091 27 ALL diagnosis snv CCBE1 missense S363F NM_133459 10-PANKMB CCBE1 MISSENSE SNP Somatic -2 0.099 SQHIGH 12 21 33 0 25 25 Cosmic_Gene G G A G G TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 147372 18 57103273 57103273 34 ALL diagnosis snv PEG3 missense G303V NM_006210 10-PANKMB ZIM2|PEG3 INTRON|MISSENSE SNP Somatic -4 0.083 SQHIGH 9 29 38 0 62 62 Cosmic_Gene C C A C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 23619|5178 19 57328902 57328902 41 ALL diagnosis snv TOX2 silent D275D NM_001098797 10-PANKMB TOX2 SYNONYMOUS SNP dbsnp.134:rs138861548 Somatic 14 0.529 SQHIGH 13 22 35 0 52 52 Cosmic_Gene C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 84969 20 42683112 42683112 58 ALL diagnosis snv DDX53 silent D549D NM_182699 10-PANKMB DDX53 SYNONYMOUS SNP Somatic 3 0.160 SQHIGH 5 24 29 0 22 22 Cosmic_Gene C C T C C TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 168400 X 23019821 23019821 13 ALL diagnosis snv FGF13 missense L136R NM_004114 10-PANKMB FGF13 MISSENSE SNP Somatic 7 0.234 SQHIGH 13 17 30 0 38 38 Cosmic_Gene A A C A A TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 2258 X 137717812 137717812 54 ALL diagnosis snv BAI2 missense N893D NM_001294335 10-PANKMB BAI2 MISSENSE SNP Somatic PFAM:PF01825:GPS 9 0.283 SQHIGH 11 28 39 0 44 44 Cosmic_Gene T T C T T TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 576 1 32203896 32203896 40 ALL diagnosis snv PGM1 silent Y430Y NM_002633 10-PANKMB PGM1 SYNONYMOUS SNP dbsnp.134:rs140357031 Somatic PFAM:PF02880:PGM_PMM_III 15 0.588 SQHIGH 23 19 42 1 50 51 Cosmic_Gene C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 5236 1 64117349 64117349 87 ALL diagnosis snv TBX15 nonsense R298* NM_152380 10-PANKMB TBX15 NONSENSE SNP Somatic 11 0.354 SQHIGH 24 28 52 0 61 61 Cosmic_Gene G G A G G TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 6913 1 119427954 119427954 97 ALL diagnosis snv ELF3 silent P181P NM_004433 10-PANKMB LOC100289488|ELF3 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 10 0.318 SQHIGH 15 17 32 1 39 40 C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 100289488|1999 1 201981832 201981832 52 ALL diagnosis snv FSIP2 silent L1406L NM_173651 10-PANKMB FSIP2 SYNONYMOUS SNP Somatic 10 0.318 SQHIGH 19 22 41 0 29 29 A A T A A TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 401024 2 186655814 186655814 54 ALL diagnosis snv PLD1 missense R700C NM_002662 10-PANKMB PLD1 MISSENSE SNP Somatic -5 0.075 SQHIGH 4 15 19 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 5337 3 171394522 171394522 21 ALL diagnosis snv MTNR1A missense K56N NM_005958 10-PANKMB MTNR1A MISSENSE SNP Somatic PFAM:PF00001:7tm_1 8 0.256 SQHIGH 13 11 24 1 44 45 Cosmic_Gene C C G C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 4543 4 187476352 187476352 61 ALL diagnosis snv PDZD2 silent R2520R NM_178140 10-PANKMB PDZD2 SYNONYMOUS SNP Somatic 12 0.398 SQHIGH 5 16 21 0 25 25 Cosmic_Gene G G A G G TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 23037 5 32091114 32091114 18 ALL diagnosis snv ELFN1 missense G673V NM_001128636 10-PANKMB ELFN1|LOC100505644 MISSENSE|TSS-UPSTREAM SNP Somatic 13 0.452 SQHIGH 11 7 18 0 36 36 G G T G G TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 392617|100505644 7 1786250 1786250 65 ALL diagnosis snv COPS6 missense E95D NM_006833 10-PANKMB COPS6 MISSENSE SNP Somatic 11 0.354 SQHIGH 13 23 36 1 49 50 A A C A A TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 10980 7 99687320 99687320 46 ALL diagnosis snv FGFR1 missense R445W NM_023110 10-PANKMB FGFR1 MISSENSE SNP Somatic 13 0.452 SQHIGH 24 23 47 1 47 48 Cosmic_Gene G G A G G TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 2260 8 38275843 38275843 78 ALL diagnosis snv PKHD1L1 silent G2609G NM_177531 10-PANKMB PKHD1L1 SYNONYMOUS SNP Somatic 14 0.525 SQHIGH 12 25 37 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 93035 8 110476888 110476888 42 ALL diagnosis snv MPDZ silent A1306A NM_003829 10-PANKMB MPDZ SYNONYMOUS SNP Somatic 12 0.398 SQHIGH 9 9 18 0 20 20 Cosmic_Gene G G A G G TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 8777 9 13140071 13140071 35 ALL diagnosis snv DNAJC9-AS1 EXON E23_exon NM_145170 10-PANKMB C10orf103|TTC18 UTR|INTRON SNP Somatic 19 0.938 SQHIGH 14 9 23 0 45 45 Cosmic_Gene C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 414245|118491 10 75035185 75035185 82 ALL diagnosis snv DDIAS missense K62E NM_145018 10-PANKMB DDIAS MISSENSE SNP Somatic 16 0.664 SQHIGH 11 15 26 0 30 30 Cosmic_Gene A A G A A TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 220042 11 82639889 82639889 43 ALL diagnosis snv PTPN6 missense T132M NM_002831 10-PANKMB PTPN6 MISSENSE SNP Somatic 8 0.256 SQHIGH 12 10 22 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 5777 12 7064036 7064036 58 ALL diagnosis snv SLC15A5 missense M321I NM_001170798 10-PANKMB SLC15A5 MISSENSE SNP Somatic 13 0.452 SQHIGH 10 16 26 0 49 49 C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 729025 12 16397526 16397526 52 ALL diagnosis snv CHURC1-FNTB,RAB15 splice W62_E3splice NM_198686 10-PANKMB CHURC1-FNTB|RAB15 INTRON|ACCEPTOR SNP Somatic 17 0.770 SQHIGH 17 17 34 0 48 48 Cosmic_Gene G G A G G TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 100529261|376267 14 65418384 65418384 78 ALL diagnosis snv AHSA1 missense R321Q NM_012111 10-PANKMB AHSA1 MISSENSE SNP Somatic 19 0.938 SQHIGH 12 14 26 1 45 46 G G A G G TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 10598 14 77935537 77935537 52 ALL diagnosis snv IRX6 silent D271D NM_024335 10-PANKMB IRX6 SYNONYMOUS SNP dbsnp.134:rs146683202 Somatic 13 0.452 SQHIGH 19 24 43 0 32 32 Cosmic_Gene C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 79190 16 55362703 55362703 56 ALL diagnosis snv ZBTB4 silent P10P NM_020899 10-PANKMB ZBTB4 SYNONYMOUS SNP Somatic 13 0.452 SQHIGH 12 13 25 0 37 37 Cosmic_Gene C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 57659 17 7370091 7370091 56 ALL diagnosis snv PEG3 missense G303V NM_006210 10-PANKMB ZIM2|PEG3 INTRON|MISSENSE SNP Somatic 17 0.770 SQHIGH 14 18 32 0 62 62 Cosmic_Gene C C A C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 23619|5178 19 57328902 57328902 76 ALL diagnosis snv TOX2 silent D275D NM_001098797 10-PANKMB TOX2 SYNONYMOUS SNP dbsnp.134:rs138861548 Somatic 15 0.588 SQHIGH 15 21 36 0 52 52 Cosmic_Gene C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 84969 20 42683112 42683112 68 ALL diagnosis snv DDX53 silent D549D NM_182699 10-PANKMB DDX53 SYNONYMOUS SNP Somatic 16 0.664 SQHIGH 11 15 26 0 22 22 Cosmic_Gene C C T C C TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 168400 X 23019821 23019821 35 ALL diagnosis snv FGF13 missense L136R NM_004114 10-PANKMB FGF13 MISSENSE SNP Somatic 7 0.231 SQHIGH 8 16 24 0 38 38 Cosmic_Gene A A C A A TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 2258 X 137717812 137717812 37 ALL diagnosis snv NRAS missense G12A NM_002524 10-PANKRG NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 16 0.673 SQHIGH 15 20 35 0 44 44 COSMIC:mut:565 Cosmic_Gene C C G C C TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 4893 1 115258747 115258747 62 ALL diagnosis snv LCE1B silent P35P NM_178349 10-PANKRG LCE1B SYNONYMOUS SNP Somatic -6 0.062 SQHIGH 4 12 16 0 24 24 T T A T T TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 353132 1 152785027 152785027 17 ALL diagnosis snv THADA missense P265L NM_022065 10-PANKRG THADA MISSENSE SNP Somatic 18 0.856 SQHIGH 10 14 24 0 36 36 Cosmic_Gene G G A G G TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 63892 2 43805674 43805674 46 ALL diagnosis snv UNC80 missense P371L NM_032504 10-PANKRG UNC80 MISSENSE SNP Somatic 2 0.125 SQHIGH 23 43 66 2 47 49 C C T C C TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 285175 2 210678477 210678477 45 ALL diagnosis snv WDR55 silent T269T NM_017706 10-PANKRG WDR55 SYNONYMOUS SNP Somatic -6 0.062 SQHIGH 4 14 18 0 20 20 Cosmic_Gene T T C T T TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 54853 5 140048810 140048810 14 ALL diagnosis snv ZFHX4 silent G2992G NM_024721 10-PANKRG ZFHX4 SYNONYMOUS SNP Somatic 6 0.201 SQHIGH 11 29 40 0 37 37 Cosmic_Gene G G T G G TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 79776 8 77768133 77768133 35 ALL diagnosis snv TLL2 silent T595T NM_012465 10-PANKRG TLL2 SYNONYMOUS SNP Somatic PFAM:PF07645:EGF_CA 9 0.278 SQHIGH 21 35 56 0 50 50 Cosmic_Gene C C T C C TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 7093 10 98146777 98146777 68 ALL diagnosis snv ABCC2 missense R612W NM_000392 10-PANKRG ABCC2 MISSENSE SNP Somatic 16 0.673 SQHIGH 12 26 38 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 1244 10 101569909 101569909 39 ALL diagnosis snv DRD2 silent L72L NM_000795 10-PANKRG DRD2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 12 0.394 SQHIGH 22 33 55 0 48 48 Cosmic_Gene G G A G G TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 1813 11 113295160 113295160 71 ALL diagnosis snv NTN4 missense R354H NM_021229 10-PANKRG NTN4 MISSENSE SNP dbsnp.134:rs148021049 Somatic PFAM:PF00053:Laminin_EGF 11 0.346 SQHIGH 20 20 40 1 43 44 Cosmic_Gene C C T C C TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 59277 12 96104338 96104338 67 ALL diagnosis snv NEUROD2 missense G80R NM_006160 10-PANKRG NEUROD2 MISSENSE SNP Somatic -8 0.052 SQHIGH 4 22 26 0 48 48 C C T C C TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 4761 17 37762615 37762615 19 ALL diagnosis snv KRT13 missense R201C NM_153490 10-PANKRG KRT13 MISSENSE SNP Somatic PFAM:PF00038:Filament 10 0.310 SQHIGH 16 16 32 2 47 49 Cosmic_Gene G G A G G TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 3860 17 39659673 39659673 58 ALL diagnosis snv BAI2 missense R1384Q NM_001294335 10-PANLIC BAI2 MISSENSE SNP Somatic 2 0.153 SQHIGH 9 25 34 0 25 25 Cosmic_Gene C C T C C TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 576 1 32196630 32196630 24 ALL diagnosis snv TCF7L1 missense R287W NM_031283 10-PANLIC TCF7L1 MISSENSE SNP Somatic 11 0.372 SQHIGH 5 24 29 1 43 44 Cosmic_Gene C C T C C TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 83439 2 85532396 85532396 15 ALL diagnosis snv RBM5-AS1 EXON E4_exon NM_005778 10-PANLIC RBM5 INTRON SNP Somatic 17 0.784 SQHIGH 14 21 35 0 40 40 Cosmic_Gene G G A G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 10181 3 50137158 50137158 54 ALL diagnosis snv RNF168 missense N498D NM_152617 10-PANLIC RNF168 MISSENSE SNP Somatic 7 0.246 SQHIGH 14 29 43 0 47 47 T T C T T TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 165918 3 196198914 196198914 51 ALL diagnosis snv TBC1D9B silent G1135G NM_198868 10-PANLIC TBC1D9B|C5orf45 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 1 0.139 SQHIGH 6 20 26 0 25 25 Cosmic_Gene T T C T T TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 23061|51149 5 179290796 179290796 19 ALL diagnosis snv PRSS16 missense D483N NM_005865 10-PANLIC PRSS16 MISSENSE SNP Somatic PFAM:PF05577:Peptidase_S28 9 0.300 SQHIGH 17 19 36 0 33 33 Cosmic_Gene G G A G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 10279 6 27222881 27222881 58 ALL diagnosis snv SLC26A4 silent I136I NM_000441 10-PANLIC SLC26A4 SYNONYMOUS SNP Somatic 15 0.609 SQHIGH 11 26 37 0 25 25 Cosmic_Gene C C A C C TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 5172 7 107312686 107312686 28 ALL diagnosis snv MUC2 missense T1248M NM_002457 10-PANLIC MUC2 MISSENSE SNP Somatic 10 0.335 SQHIGH 12 15 27 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 4583 11 1090848 1090848 49 ALL diagnosis snv SF3B2 silent L413L NM_006842 10-PANLIC SF3B2 SYNONYMOUS SNP Somatic 15 0.609 SQHIGH 27 29 56 0 52 54 Cosmic_Gene G G A G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 10992 11 65826728 65826728 95 ALL diagnosis snv ATM splice K1192_E24splice NM_000051 10-PANLIC ATM DISRUPT SNP Somatic 5 0.202 SQHIGH 10 25 35 0 30 30 Cosmic_Gene G G T G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 472 11 108151896 108151896 30 ALL diagnosis snv KIAA1467 missense G301D NM_020853 10-PANLIC KIAA1467 MISSENSE SNP Somatic 19 0.948 SQHIGH 18 11 29 1 45 46 Cosmic_Gene G G A G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 57613 12 13219623 13219623 83 ALL diagnosis snv PRPF40B splice_region S108_E5splice_region NM_001031698 10-PANLIC PRPF40B INTRON SNP Somatic 17 0.784 SQHIGH 13 12 25 1 29 30 Cosmic_Gene T T A T T TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 25766 12 50026415 50026415 44 ALL diagnosis snv KIAA1024 missense R148Q NM_015206 10-PANLIC KIAA1024 MISSENSE SNP Somatic 6 0.223 SQHIGH 14 38 52 1 45 46 Cosmic_Gene G G A G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 23251 15 79748932 79748932 33 ALL diagnosis snv C16orf96 missense V1037I NM_001145011 10-PANLIC C16orf96 MISSENSE SNP dbsnp.134:rs139667175 Somatic -3 0.095 SQHIGH 4 19 23 0 24 24 G G A G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 342346 16 4644786 4644786 13 ALL diagnosis snv DEF8 missense A475S NM_207514 10-PANLIC DEF8 MISSENSE SNP Somatic -7 0.068 SQHIGH 3 14 17 0 32 32 Cosmic_Gene G G T G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 54849 16 90030970 90030970 14 ALL diagnosis snv ARRB2 splice D39_E3splice NM_004313 10-PANLIC ARRB2 DISRUPT SNP Somatic 13 0.471 SQHIGH 16 27 43 0 39 39 T T C T T TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 409 17 4619330 4619330 52 ALL diagnosis snv ZNRF4 missense V214M NM_181710 10-PANLIC ZNRF4 MISSENSE SNP dbsnp.132:rs114216623 Somatic 3 0.168 SQHIGH 7 23 30 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 148066 19 5456142 5456142 22 ALL diagnosis snv FPR1 missense V127I NM_002029 10-PANLIC FPR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 1 0.139 SQHIGH 18 20 38 0 24 24 Cosmic_Gene C C T C C TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 2357 19 52249869 52249869 47 ALL diagnosis snv CRLF2 missense F232C NM_022148 10-PANLIC CRLF2 MISSENSE SNP Somatic 9 0.300 SQHIGH 7 14 21 0 24 24 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 64109 X 1314966 1314966 26 ALL diagnosis snv SPIN4 missense I100S NM_001012968 10-PANLIC SPIN4 MISSENSE SNP Somatic 11 0.372 SQHIGH 14 25 39 0 33 33 Cosmic_Gene A A C A A TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 139886 X 62570400 62570400 43 ALL diagnosis snv CHRDL1 silent S206S NM_001143981 10-PANLIC CHRDL1 SYNONYMOUS SNP Somatic 6 0.223 SQHIGH 13 27 40 0 33 33 A A T A A TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 91851 X 109937551 109937551 39 ALL diagnosis snv KIAA1210 missense D872E NM_020721 10-PANLIC KIAA1210 MISSENSE SNP Somatic 15 0.609 SQHIGH 17 10 27 0 24 24 Cosmic_Gene G G T G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 57481 X 118222577 118222577 62 ALL diagnosis snv BCORL1 nonsense E1447* NM_021946 10-PANLIC BCORL1 NONSENSE SNP Somatic PFAM:PF12796:Ank_2 17 0.784 SQHIGH 20 22 42 0 38 38 Cosmic_Gene G G T G G TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 63035 X 129171375 129171375 68 ALL diagnosis snv DEDD missense L89Q NM_032998 10-PANPJI DEDD|NIT1 MISSENSE|UTR3 SNP Somatic -2 0.079 SQHIGH 4 7 11 0 14 14 A A T A A TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 9191|4817 1 161093987 161093987 16 ALL diagnosis snv GRK4 silent G351G NM_182982 10-PANPJI GRK4 SYNONYMOUS SNP Somatic 10 0.279 SQHIGH 18 24 42 0 41 41 Cosmic_Gene C C A C C TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 2868 4 3029721 3029721 63 ALL diagnosis snv BAI3 splice_region V1199_E28splice_region NM_001704 10-PANPJI BAI3 DONOR SNP Somatic 1 0.106 SQHIGH 7 10 17 0 20 20 Cosmic_Gene G G T G G TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 577 6 70065757 70065757 27 ALL diagnosis snv ELN missense P342L NM_000501 10-PANPJI ELN MISSENSE SNP Somatic 6 0.177 SQHIGH 27 30 57 0 50 50 Cosmic_Gene C C T C C TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 2006 7 73467568 73467568 90 ALL diagnosis snv FUBP3 splice G373_E13splice NM_003934 10-PANPJI FUBP3 MISSENSE SNP Somatic 12 0.367 SQHIGH 16 25 41 0 38 38 Cosmic_Gene G G T G G TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 8939 9 133506015 133506015 53 ALL diagnosis snv GRIN2B silent T1230T NM_000834 10-PANPJI GRIN2B SYNONYMOUS SNP Somatic PFAM:PF10565:NMDAR2_C 11 0.318 SQHIGH 13 32 45 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 2904 12 13716482 13716482 35 ALL diagnosis snv BAG5 silent I204I NM_001015049 10-PANPJI APOPT1|BAG5 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 13 0.424 SQHIGH 30 27 57 0 50 50 Cosmic_Gene G G A G G TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 84334|9529 14 104027013 104027013 104 ALL diagnosis snv MNT splice_region E334_E5splice_region NM_020310 10-PANPJI MNT INTRON SNP Somatic 5 0.156 SQHIGH 4 22 26 0 35 35 Cosmic_Gene G G T G G TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 4335 17 2291143 2291143 15 ALL diagnosis snv DCC missense T1122N NM_005215 10-PANPJI DCC MISSENSE SNP Somatic 12 0.367 SQHIGH 16 28 44 0 38 38 Cosmic_Gene C C A C C TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 1630 18 50977005 50977005 50 ALL diagnosis snv DYRK1B splice_region R269_E6splice_region NM_004714 10-PANPJI DYRK1B INTRON SNP Somatic -8 0.047 SQHIGH 5 16 21 0 21 21 Cosmic_Gene C C A C C TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 9149 19 40318929 40318929 16 ALL diagnosis snv NNAT missense A37T NM_005386 10-PANPJI BLCAP|NNAT INTRON|INTRON,MISSENSE SNP Somatic -9 0.044 SQHIGH 3 5 8 0 16 16 G G A G G TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 10904|4826 20 36150796 36150796 16 ALL diagnosis snv MAGIX missense A314T NM_024859 10-PANPJI MAGIX MISSENSE SNP Somatic 3 0.129 SQHIGH 11 14 25 0 29 29 G G A G G TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 79917 X 49022673 49022673 43 ALL diagnosis snv ZSWIM5 silent L372L NM_020883 10-PANPJW ZSWIM5 SYNONYMOUS SNP Somatic 0 0.216 SQHIGH 11 58 69 0 56 56 G G A G G TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 57643 1 45524419 45524419 30 ALL diagnosis snv FAM13B missense G451S NM_016603 10-PANPJW FAM13B MISSENSE SNP Somatic 5 0.303 SQHIGH 14 11 25 0 25 25 C C T C C TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 51306 5 137295395 137295395 53 ALL diagnosis snv MDC1 missense T1781K NM_014641 10-PANPJW MDC1 MISSENSE SNP Somatic 16 0.773 SQHIGH 34 26 60 0 37 37 Cosmic_Gene G G T G G TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 9656 6 30671618 30671618 94 ALL diagnosis snv IKBKAP silent L1019L NM_003640 10-PANPJW IKBKAP SYNONYMOUS SNP Somatic 10 0.451 SQHIGH 12 33 45 0 40 40 Cosmic_Gene G G C G G TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 8518 9 111653586 111653586 37 ALL diagnosis snv FKBP15 nonsense Q29* NM_015258 10-PANPJW FKBP15 NONSENSE SNP Somatic -5 0.149 SQHIGH 7 8 15 0 9 9 Cosmic_Gene G G A G G TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 23307 9 115973841 115973841 17 ALL diagnosis snv GBF1 missense E780K NM_004193 10-PANPJW GBF1 MISSENSE SNP Somatic 11 0.488 SQHIGH 21 20 41 1 33 34 Cosmic_Gene G G A G G TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 8729 10 104126171 104126171 57 ALL diagnosis snv TMBIM6 missense D51E NM_001098576 10-PANPJW TMBIM6 UTR5,MISSENSE SNP Somatic -4 0.160 SQHIGH 4 9 13 1 22 23 C C G C C TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 7009 12 50146255 50146255 13 ALL diagnosis snv MGA splice E672_E4splice NM_001164273 10-PANPJW MGA DISRUPT SNP Somatic 3 0.265 SQHIGH 6 18 24 0 19 19 Cosmic_Gene A A G A A TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 23269 15 41991059 41991059 17 ALL diagnosis snv MGA missense S3061N NM_001164273 10-PANPJW MGA MISSENSE SNP Somatic 12 0.536 SQHIGH 18 29 47 0 48 48 Cosmic_Gene G G A G G TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 23269 15 42059462 42059462 64 ALL diagnosis snv BEAN1-AS1 EXON E2_exon NM_001136106 10-PANPJW BEAN1 INTRON SNP Somatic 0 0.216 SQHIGH 4 19 25 0 38 39 G G A G G TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 146227 16 66503877 66503877 18 ALL diagnosis snv NRAS missense G13D NM_002524 10-PANRAL NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 10 0.280 SQHIGH 13 25 38 0 33 33 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PANRAL-03A-01D TARGET-10-PANRAL-10A-01D 4893 1 115258744 115258744 40 ALL diagnosis snv PF4V1 missense A30T NM_002620 10-PANRAL PF4V1 MISSENSE SNP Somatic 0 0.096 SQHIGH 9 37 46 0 32 32 G G A G G TARGET-10-PANRAL-03A-01D TARGET-10-PANRAL-10A-01D 5197 4 74719167 74719167 22 ALL diagnosis snv HNRNPAB missense S296L NM_031266 10-PANRAL HNRNPAB|AGXT2L2 INTRON,MISSENSE|INTRON SNP Somatic 8 0.220 SQHIGH 20 23 43 0 32 32 Cosmic_Gene C C T C C TARGET-10-PANRAL-03A-01D TARGET-10-PANRAL-10A-01D 3182|85007 5 177637232 177637232 59 ALL diagnosis snv COL19A1 missense T414K NM_001858 10-PANRAL COL19A1 MISSENSE SNP Somatic 9 0.248 SQHIGH 11 30 41 0 51 51 Cosmic_Gene C C A C C TARGET-10-PANRAL-03A-01D TARGET-10-PANRAL-10A-01D 1310 6 70812077 70812077 42 ALL diagnosis snv KRT73 silent I313I NM_175068 10-PANRAL KRT73 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament -2 0.079 SQHIGH 9 33 42 0 47 47 Cosmic_Gene G G A G G TARGET-10-PANRAL-03A-01D TARGET-10-PANRAL-10A-01D 319101 12 53007517 53007517 32 ALL diagnosis snv POGZ missense P761S NM_015100 10-PANRDC POGZ MISSENSE SNP Somatic 0 0.110 SQHIGH 5 32 37 0 50 50 Cosmic_Gene G G A G G TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 23126 1 151380670 151380670 19 ALL diagnosis snv ROBO1 splice_region E260_E7splice_region NM_002941 10-PANRDC ROBO1 ACCEPTOR SNP Somatic -8 0.054 SQHIGH 9 36 45 0 34 34 Cosmic_Gene A A G A A TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 6091 3 78766573 78766573 24 ALL diagnosis snv ARHGEF37 missense R373W NM_001001669 10-PANRDC ARHGEF37 MISSENSE SNP Somatic 8 0.243 SQHIGH 7 20 27 0 35 35 C C T C C TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 389337 5 149001407 149001407 27 ALL diagnosis snv NSMAF missense D755G NM_003580 10-PANRDC NSMAF MISSENSE SNP Somatic -8 0.054 SQHIGH 6 26 32 1 38 39 Cosmic_Gene T T C T T TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 8439 8 59500208 59500208 15 ALL diagnosis snv LOC101448202 EXON E57_exon NM_000093 10-PANRDC COL5A1 INTRON SNP Somatic 6 0.197 SQHIGH 7 21 28 0 61 61 Cosmic_Gene C C T C C TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 1289 9 137711907 137711907 38 ALL diagnosis snv PRKRIR missense D87G NM_004705 10-PANRDC PRKRIR MISSENSE SNP Somatic PFAM:PF05485:THAP -10 0.046 SQHIGH 6 29 35 0 43 43 Cosmic_Gene T T C T T TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 5612 11 76072058 76072058 22 ALL diagnosis snv LMO3 missense G72A NM_018640 10-PANRDC LMO3 MISSENSE SNP Somatic 13 0.457 SQHIGH 16 31 47 0 43 43 C C G C C TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 55885 12 16713464 16713464 52 ALL diagnosis snv PTPN11 missense A72T NM_002834 10-PANRDC PTPN11 MISSENSE SNP Somatic 3 0.144 SQHIGH 8 24 32 0 35 35 COSMIC:mut:13014 Cosmic_Gene G G A G G TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 5781 12 112888198 112888198 28 ALL diagnosis snv C17orf51 splice E143_E1splice NM_001113434 10-PANRDC C17orf51 DISRUPT SNP Somatic 13 0.457 SQHIGH 16 24 40 0 39 39 C C G C C TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 339263 17 21454258 21454258 55 ALL diagnosis snv NRAS missense G13D NM_002524 10-PANRWG NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic -12 0.036 5 23 28 0 31 31 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 4893 1 115258744 115258744 17 ALL diagnosis snv NRAS missense G12D NM_002524 10-PANRWG NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -7 0.054 SQHIGH 4 24 28 0 33 33 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 4893 1 115258747 115258747 14 ALL diagnosis snv STK25 missense E371K NM_006374 10-PANRWG STK25 MISSENSE SNP Somatic -8 0.050 SQHIGH 4 29 33 0 54 54 C C T C C TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 10494 2 242435943 242435943 17 ALL diagnosis snv APC missense S1395G NM_000038 10-PANRWG APC MISSENSE SNP Somatic -24 0.009 6 34 40 0 42 42 Cosmic_Gene A A G A A TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 324 5 112175474 112175474 20 ALL diagnosis snv BEND3 missense A754T NM_001080450 10-PANRWG BEND3 MISSENSE SNP dbsnp.134:rs150257161 Somatic PFAM:PF10523:BEN 5 0.173 SQHIGH 8 23 31 0 30 30 Cosmic_Gene C C T C C TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 57673 6 107390135 107390135 26 ALL diagnosis snv MRPS17 missense L55V NM_015969 10-PANRWG MRPS17 MISSENSE SNP Somatic PFAM:PF00366:Ribosomal_S17 -4 0.069 SQHIGH 4 14 18 0 29 29 C C G C C TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 51373 7 56022641 56022641 18 ALL diagnosis snv BAZ1B missense R899H NM_032408 10-PANRWG BAZ1B MISSENSE SNP Somatic -35 0.001 3 14 17 0 30 30 COSMIC:mut:69798 Cosmic_Gene C C T C C TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 9031 7 72884711 72884711 14 ALL diagnosis snv PHRF1 silent D44D NM_020901 10-PANRWG PHRF1 SYNONYMOUS SNP Somatic -2 0.084 SQHIGH 6 15 21 0 23 23 C C T C C TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 57661 11 581999 581999 21 ALL diagnosis snv TECTA silent A1768A NM_005422 10-PANRWG TECTA SYNONYMOUS SNP Somatic 13 0.449 SQHIGH 17 29 46 0 42 42 Cosmic_Gene G G A G G TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 7007 11 121036013 121036013 55 ALL diagnosis snv NCKAP5L missense R259C NM_001037806 10-PANRWG NCKAP5L MISSENSE SNP Somatic -3 0.076 SQHIGH 9 17 26 0 16 16 Cosmic_Gene G G A G G TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 57701 12 50190868 50190868 22 ALL diagnosis snv HIF1A-AS2 EXON E15_exon NM_001530 10-PANRWG HIF1A UTR3 SNP Somatic -8 0.050 SQHIGH 5 18 23 0 18 18 Cosmic_Gene T T A T T TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 3091 14 62214058 62214058 13 ALL diagnosis snv DNAJA3 missense P208S NM_005147 10-PANRWG DNAJA3 MISSENSE SNP Somatic -6 0.059 SQHIGH 10 43 53 0 52 52 Cosmic_Gene C C T C C TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 9093 16 4491568 4491568 32 ALL diagnosis snv CDC27 missense I351V NM_001114091 10-PANRWG CDC27 MISSENSE SNP Somatic 12 0.395 SQHIGH 15 30 45 0 40 40 Cosmic_Gene T T C T T TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 996 17 45229209 45229209 47 ALL diagnosis snv SLC39A6 missense I344L NM_012319 10-PANRWG SLC39A6 MISSENSE SNP Somatic -8 0.050 SQHIGH 4 21 25 0 28 28 Cosmic_Gene T T G T T TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 25800 18 33703568 33703568 14 ALL diagnosis snv ZNF574 missense T2P NM_022752 10-PANRWG ZNF574 MISSENSE SNP Somatic -2 0.084 SQHIGH 6 41 47 0 53 53 A A C A A TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 64763 19 42582762 42582762 20 ALL diagnosis snv ZNF574 nonsense E3* NM_022752 10-PANRWG ZNF574 NONSENSE SNP Somatic -9 0.046 SQHIGH 5 54 59 0 65 65 G G T G G TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 64763 19 42582765 42582765 17 ALL diagnosis mnv POU5F1P3 EXON E3_exon NM_016184 10-PANRWG POU5F1P3|CLEC4A UTR|INTRON Sub Somatic -8 0.293 SQHIGH 5 24 29 0 28 29 CA CA TG CA CA TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 642559|50856 12 8286679 8286680 15 ALL diagnosis snv PTPRG silent I837I NM_002841 10-PANRYM PTPRG SYNONYMOUS SNP dbsnp.134:rs138568998 Somatic 19 0.916 SQHIGH 13 12 25 0 32 32 Cosmic_Gene C C T C C TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 5793 3 62240842 62240842 57 ALL diagnosis snv AMPH missense W89L NM_001635 10-PANRYM AMPH MISSENSE SNP Somatic 14 0.530 SQHIGH 13 22 35 0 44 44 Cosmic_Gene C C A C C TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 273 7 38534067 38534067 53 ALL diagnosis snv KIAA1549 missense T1743M NM_020910 10-PANRYM KIAA1549 MISSENSE SNP Somatic 13 0.464 SQHIGH 26 19 45 0 51 51 Cosmic_Gene G G A G G TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 57670 7 138545904 138545904 109 ALL diagnosis snv CRB2 missense V745M NM_173689 10-PANRYM CRB2 MISSENSE SNP Somatic -4 0.074 SQHIGH 18 13 31 1 22 23 Cosmic_Gene G G A G G TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 286204 9 126133654 126133654 46 ALL diagnosis snv C12orf42 silent A97A NM_198521 10-PANRYM C12orf42 SYNONYMOUS SNP Somatic 19 0.916 SQHIGH 15 19 34 1 43 44 Cosmic_Gene C C T C C TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 374470 12 103700092 103700092 53 ALL diagnosis snv SDS missense A68T NM_006843 10-PANRYM SDS MISSENSE SNP Somatic PFAM:PF00291:PALP 11 0.366 SQHIGH 15 19 34 1 38 39 Cosmic_Gene C C T C C TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 10993 12 113836643 113836643 48 ALL diagnosis snv FLT3 missense S838G NM_004119 10-PANRYM FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 20 0.969 SQHIGH 11 13 24 0 43 43 Cosmic_Gene T T C T T TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 2322 13 28592633 28592633 57 ALL diagnosis snv MYO1D missense E246K NM_015194 10-PANRYM MYO1D MISSENSE SNP Somatic 11 0.366 SQHIGH 13 33 46 1 30 31 Cosmic_Gene C C T C C TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 4642 17 31094749 31094749 24 ALL diagnosis snv IGF2BP1 silent S497S NM_006546 10-PANRYM IGF2BP1 SYNONYMOUS SNP Somatic 7 0.247 SQHIGH 13 15 28 0 16 16 Cosmic_Gene A A G A A TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 10642 17 47123347 47123347 31 ALL diagnosis snv PRPF31 missense S260L NM_015629 10-PANRYM PRPF31 MISSENSE SNP Somatic PFAM:PF01798:Nop 18 0.846 SQHIGH 13 7 20 0 22 22 Cosmic_Gene C C T C C TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 26121 19 54627959 54627959 55 ALL diagnosis snv YTHDF1 missense Q138K NM_017798 10-PANRYM YTHDF1 MISSENSE SNP Somatic -32 0.003 5 16 21 0 36 36 Cosmic_Gene G G T G G TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 54915 20 61834880 61834880 23 ALL diagnosis complex FLT3 proteinIns I836>LRP NM_004119 10-PANRYM FLT3 INSERT+ Sub Somatic PFAM:PF03109:ABC1 -10 0.277 SQHIGH 22 23 45 0 60 60 Cosmic_Gene GAT GAT GGGGCGGAG GAT GAT TARGET-10-PANRYM-09A-01D TARGET-10-PANRYM-14B-01D 2322 13 28592637 28592639 98 ALL diagnosis snv SYT6 silent N395N NM_205848 10-PANSBR SYT6 SYNONYMOUS SNP Somatic 6 0.173 SQHIGH 23 45 68 0 58 58 Cosmic_Gene G G A G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 148281 1 114640424 114640424 71 ALL diagnosis snv HNRNPU-AS1 EXON E4_exon NM_198076 10-PANSBR HNRNPU-AS1|FAM36A UTR|UTR3 SNP Somatic 1 0.102 SQHIGH 6 34 40 0 21 21 A A T A A TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 284702|116228 1 245007758 245007758 12 ALL diagnosis snv MAP2 missense E770D NM_002374 10-PANSBR MAP2 INTRON,MISSENSE SNP Somatic PFAM:PF08377:MAP2_projctn 5 0.150 SQHIGH 29 69 98 0 87 87 Cosmic_Gene G G T G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 4133 2 210559204 210559204 90 ALL diagnosis snv TMEM108 silent A24A NM_023943 10-PANSBR TMEM108 SYNONYMOUS SNP dbsnp.134:rs139376732 Somatic 15 0.624 SQHIGH 31 25 56 0 42 42 Cosmic_Gene G G A G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 66000 3 133098627 133098627 98 ALL diagnosis snv DCAF4L1 missense V122I NM_001029955 10-PANSBR DCAF4L1 MISSENSE SNP Somatic 5 0.150 SQHIGH 20 46 66 0 46 46 Cosmic_Gene G G A G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 285429 4 41984173 41984173 52 ALL diagnosis snv FAT1 missense A4180V NM_005245 10-PANSBR FAT1 MISSENSE SNP Somatic 12 0.369 SQHIGH 28 39 67 1 56 57 Cosmic_Gene G G A G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 2195 4 187518155 187518155 77 ALL diagnosis snv ACSL6 missense R427W NM_015256 10-PANSBR ACSL6 MISSENSE SNP Somatic -6 0.055 SQHIGH 8 47 55 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 23305 5 131308476 131308476 25 ALL diagnosis snv ZSCAN31 silent H257H NM_030899 10-PANSBR ZNF323 SYNONYMOUS,UTR SNP Somatic 16 0.701 SQHIGH 21 25 46 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 64288 6 28294393 28294393 86 ALL diagnosis snv LAMA4 missense R214C NM_001105206 10-PANSBR LAMA4 MISSENSE SNP dbsnp.134:rs148801194 Somatic 1 0.102 SQHIGH 25 21 46 0 32 32 COSMIC:mut:85003 Cosmic_Gene G G A G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 3910 6 112512916 112512916 74 ALL diagnosis snv TSPAN14 missense S244T NM_030927 10-PANSBR TSPAN14 MISSENSE SNP Somatic PFAM:PF00335:Tetraspannin 6 0.173 SQHIGH 19 41 60 0 55 55 Cosmic_Gene T T A T T TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 81619 10 82276068 82276068 61 ALL diagnosis snv ATRNL1 missense V181F NM_207303 10-PANSBR ATRNL1 MISSENSE SNP Somatic 4 0.136 SQHIGH 7 23 30 0 37 37 Cosmic_Gene G G T G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 26033 10 116887406 116887406 26 ALL diagnosis snv ACP2 silent L351L NM_001610 10-PANSBR ACP2 SYNONYMOUS SNP Somatic 0 0.093 SQHIGH 5 42 47 0 48 48 Cosmic_Gene C C G C C TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 53 11 47264359 47264359 16 ALL diagnosis snv ACP2 silent P350P NM_001610 10-PANSBR ACP2 SYNONYMOUS SNP Somatic -3 0.069 SQHIGH 5 47 52 0 46 46 Cosmic_Gene T T G T T TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 53 11 47264362 47264362 14 ALL diagnosis snv SBK1 missense V424I NM_001024401 10-PANSBR SBK1 MISSENSE SNP Somatic 9 0.248 SQHIGH 7 16 23 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 388228 16 28332237 28332237 27 ALL diagnosis snv EPB41L3 missense T278K NM_012307 10-PANSBR EPB41L3 MISSENSE SNP Somatic PFAM:PF00373:FERM_M -12 0.034 6 23 29 0 29 29 Cosmic_Gene G G T G G TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 23136 18 5433547 5433547 19 ALL diagnosis snv HUNK silent I374I NM_014586 10-PANSBR HUNK SYNONYMOUS SNP Somatic 11 0.321 SQHIGH 36 45 81 0 73 73 Cosmic_Gene C C A C C TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 30811 21 33346978 33346978 121 ALL diagnosis mnv KRT5 missense D464_V465>AL NM_000424 10-PANSBR KRT5 MISSENSE Sub Somatic PFAM:PF00038:Filament -8 0.258 SQHIGH 8 46 54 1 46 47 CGT CGT GGG CGT CGT TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 3852 12 52910467 52910469 16 ALL relapse snv PLCH2 missense G224E NM_014638 10-PANSDA PLCH2 MISSENSE SNP Somatic 1 0.095 SQHIGH 13 58 71 1 70 71 Cosmic_Gene G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 9651 1 2415912 2415912 33 ALL relapse snv NRAS missense Q61H NM_002524 10-PANSDA NRAS MISSENSE SNP Somatic 15 0.624 SQHIGH 13 19 32 0 26 26 COSMIC:mut:586 Cosmic_Gene T T G T T TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 4893 1 115256528 115256528 40 ALL relapse snv PTPN14 missense D894N NM_005401 10-PANSDA PTPN14 MISSENSE SNP Somatic 13 0.415 SQHIGH 27 36 63 0 58 58 Cosmic_Gene C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 5784 1 214551310 214551310 91 ALL relapse snv ZC3H15 missense M206I NM_018471 10-PANSDA ZC3H15 MISSENSE SNP Somatic 2 0.105 SQHIGH 7 29 36 1 39 40 Cosmic_Gene G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 55854 2 187368842 187368842 17 ALL relapse snv UNC80 silent A1755A NM_032504 10-PANSDA UNC80 SYNONYMOUS SNP Somatic 1 0.095 SQHIGH 8 37 45 0 40 40 C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 285175 2 210786343 210786343 23 ALL relapse snv MON1A missense A25V NM_032355 10-PANSDA MON1A MISSENSE SNP Somatic 7 0.188 SQHIGH 21 44 65 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 84315 3 49967246 49967246 63 ALL relapse snv COX17 missense E13K NM_005694 10-PANSDA COX17 MISSENSE SNP Somatic 4 0.128 SQHIGH 22 22 44 0 42 42 C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 10063 3 119396121 119396121 79 ALL relapse snv SEMA5B missense F814L NM_001031702 10-PANSDA SEMA5B MISSENSE SNP Somatic 12 0.359 SQHIGH 10 21 31 0 32 32 Cosmic_Gene G G T G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 54437 3 122632110 122632110 35 ALL relapse snv CHRD missense R657C NM_003741 10-PANSDA CHRD MISSENSE SNP Somatic 10 0.273 SQHIGH 26 16 42 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 8646 3 184104316 184104316 88 ALL relapse snv RNF180 missense T475K NM_001113561 10-PANSDA RNF180 MISSENSE SNP Somatic -6 0.053 SQHIGH 6 37 43 0 35 35 C C A C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 285671 5 63621209 63621209 16 ALL relapse snv PCDHGA8 silent A645A NM_032088 10-PANSDA PCDHGA8|PCDHGA3|PCDHGB3|PCDHGB5|PCDHGA4|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 SYNONYMOUS|INTRON|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 1 0.095 SQHIGH 12 33 45 0 54 54 Cosmic_Gene C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 9708|56112|56102|56101|56111|56104|56108|8641|56113|56110|56114|56109|56103 5 140774315 140774315 45 ALL relapse snv COL28A1 missense R1071T NM_001037763 10-PANSDA COL28A1 MISSENSE SNP Somatic 0 0.087 SQHIGH 7 30 37 0 44 44 Cosmic_Gene C C G C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 340267 7 7398430 7398430 25 ALL relapse snv TMEM130 silent V435V NM_001134450 10-PANSDA TMEM130 SYNONYMOUS SNP Somatic 2 0.105 SQHIGH 29 60 89 0 57 57 Cosmic_Gene C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 222865 7 98445682 98445682 72 ALL relapse snv JAK2 missense P933Q NM_004972 10-PANSDA JAK2 MISSENSE SNP Somatic 2 0.105 SQHIGH 13 0 13 0 12 12 Cosmic_Gene C A A C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 3717 9 5090482 5090482 67 ALL relapse snv OR51G2 missense I30L NM_001005238 10-PANSDA OR51G2 MISSENSE SNP Somatic 15 0.624 SQHIGH 42 44 86 1 59 60 Cosmic_Gene T T G T T TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 81282 11 4936806 4936806 107 ALL relapse snv CCDC34 missense I345M NM_030771 10-PANSDA CCDC34 MISSENSE SNP Somatic 12 0.359 SQHIGH 13 29 42 0 46 46 T T C T T TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 91057 11 27360455 27360455 47 ALL relapse snv OR4C16 missense V262I NM_001004701 10-PANSDA OR4C16 MISSENSE SNP dbsnp.134:rs141913559 Somatic PFAM:PF00001:7tm_1 4 0.128 SQHIGH 16 23 40 1 41 42 Cosmic_Gene G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 219428 11 55340387 55340387 49 ALL relapse snv PWP1 missense A186T NM_007062 10-PANSDA PWP1 MISSENSE SNP Somatic 3 0.115 SQHIGH 10 42 52 0 46 46 G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 11137 12 108090304 108090304 29 ALL relapse snv KCNH5 missense D416N NM_139318 10-PANSDA KCNH5 MISSENSE SNP Somatic PFAM:PF07885:Ion_trans_2 16 0.700 SQHIGH 22 19 41 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 27133 14 63416974 63416974 96 ALL relapse snv ADSSL1 missense R270Q NM_199165 10-PANSDA ADSSL1 MISSENSE SNP Somatic 7 0.188 SQHIGH 29 36 65 0 72 72 Cosmic_Gene G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 122622 14 105207467 105207467 112 ALL relapse snv ZNF469 missense R3172H NM_001127464 10-PANSDA ZNF469 MISSENSE SNP Somatic 4 0.128 SQHIGH 19 12 31 0 20 20 G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 84627 16 88503477 88503477 55 ALL relapse snv TP53 missense G245S NM_000546 10-PANSDA TP53 MISSENSE SNP dbsnp.125:rs28934575 Somatic 17 0.852 SQHIGH 45 21 66 0 70 70 COSMIC:mut:6932 Cosmic_Gene C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 7157 17 7577548 7577548 194 ALL relapse snv DNAH2 missense R3923H NM_020877 10-PANSDA DNAH2 MISSENSE SNP Somatic PFAM:PF03028:Dynein_heavy 13 0.415 SQHIGH 34 30 64 0 46 46 Cosmic_Gene G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 146754 17 7727960 7727960 102 ALL relapse snv TRAF4 silent L180L NM_004295 10-PANSDA TRAF4 SYNONYMOUS SNP Somatic 12 0.359 SQHIGH 10 18 28 0 30 30 Cosmic_Gene G G C G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 9618 17 27075357 27075357 36 ALL relapse snv CACNB1 silent V2V NM_000723 10-PANSDA CACNB1|RPL19 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -7 0.049 SQHIGH 6 31 37 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 782|6143 17 37353743 37353743 16 ALL relapse snv SUPT4H1 missense R92S NM_003168 10-PANSDA LOC100506779|SUPT4H1 INTRON|MISSENSE SNP Somatic 6 0.165 SQHIGH 24 51 75 0 66 66 Cosmic_Gene G G T G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 100506779|6827 17 56424561 56424561 75 ALL relapse snv SALL3 silent P932P NM_171999 10-PANSDA SALL3 SYNONYMOUS SNP Somatic 11 0.311 SQHIGH 23 33 56 0 38 38 Cosmic_Gene G G A G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 27164 18 76754787 76754787 62 ALL relapse snv ZNF266 missense S139T NM_006631 10-PANSDA ZNF266 MISSENSE SNP Somatic 6 0.165 SQHIGH 20 47 67 0 59 59 Cosmic_Gene C C G C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 10781 19 9525185 9525185 62 ALL relapse snv CDC37 missense V191F NM_007065 10-PANSDA CDC37 MISSENSE SNP Somatic PFAM:PF08565:CDC37_M 12 0.359 SQHIGH 25 43 68 0 64 64 C C A C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 11140 19 10505936 10505936 83 ALL relapse snv POP4 silent V4V NM_006627 10-PANSDA POP4 SYNONYMOUS,UTR SNP Somatic 5 0.142 SQHIGH 22 51 73 0 67 67 G G C G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 10775 19 30099568 30099568 70 ALL relapse snv PRKD2 missense G161S NM_016457 10-PANSDA MIR320E|PRKD2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00130:C1_1 19 0.946 SQHIGH 23 15 38 0 42 42 Cosmic_Gene C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 100422913|25865 19 47214194 47214194 96 ALL relapse snv DLGAP4 missense T37M NM_014902 10-PANSDA DLGAP4 MISSENSE SNP Somatic 7 0.188 SQHIGH 21 14 35 0 20 20 Cosmic_Gene C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 22839 20 35060230 35060230 56 ALL relapse snv DONSON missense R23Q NM_017613 10-PANSDA LOC100506284|DONSON INTRON|MISSENSE SNP dbsnp.120:rs11553354 Somatic 0 0.087 SQHIGH 13 32 45 0 26 26 Cosmic_Gene C C T C C TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 100506284|29980 21 34960880 34960880 29 ALL relapse snv TAB1 missense C24S NM_006116 10-PANSDA TAB1 MISSENSE SNP Somatic 3 0.115 SQHIGH 7 26 33 0 47 47 Cosmic_Gene G G C G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 10454 22 39811048 39811048 29 ALL relapse snv SAMM50 missense A73P NM_015380 10-PANSDA SAMM50 MISSENSE SNP Somatic 7 0.188 SQHIGH 21 38 59 1 71 72 Cosmic_Gene G G C G G TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 25813 22 44360416 44360416 71 ALL diagnosis snv NRAS missense G13R NM_002524 10-PANSDA NRAS MISSENSE SNP dbsnp.132:rs121434595 Somatic -31 0.004 3 41 44 0 45 45 COSMIC:mut:569 Cosmic_Gene C C G C C TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 4893 1 115258745 115258745 9 ALL diagnosis snv PTPN14 missense D894N NM_005401 10-PANSDA PTPN14 MISSENSE SNP Somatic 15 0.620 SQHIGH 36 42 78 0 58 58 Cosmic_Gene C C T C C TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 5784 1 214551310 214551310 107 ALL diagnosis snv CHRD missense R657C NM_003741 10-PANSDA CHRD MISSENSE SNP Somatic 10 0.270 SQHIGH 23 20 43 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 8646 3 184104316 184104316 72 ALL diagnosis snv JAK2 missense P933Q NM_004972 10-PANSDA JAK2 MISSENSE SNP Somatic 2 0.105 SQHIGH 12 2 14 0 12 12 Cosmic_Gene C C A C C TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 3717 9 5090482 5090482 50 ALL diagnosis snv OR4C16 missense V262I NM_001004701 10-PANSDA OR4C16 MISSENSE SNP dbsnp.134:rs141913559 Somatic PFAM:PF00001:7tm_1 4 0.127 SQHIGH 27 26 53 1 41 42 Cosmic_Gene G G A G G TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 219428 11 55340387 55340387 73 ALL diagnosis snv KCNH5 missense D416N NM_139318 10-PANSDA KCNH5 MISSENSE SNP Somatic PFAM:PF07885:Ion_trans_2 17 0.851 SQHIGH 12 9 21 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 27133 14 63416974 63416974 77 ALL diagnosis snv TSC2 missense P1781L NM_000548 10-PANSDA TSC2 MISSENSE SNP Somatic 13 0.412 SQHIGH 22 30 52 0 63 63 Cosmic_Gene C C T C C TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 7249 16 2138529 2138529 89 ALL diagnosis snv SALL3 silent P932P NM_171999 10-PANSDA SALL3 SYNONYMOUS SNP Somatic 16 0.697 SQHIGH 25 28 53 0 38 38 Cosmic_Gene G G A G G TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 27164 18 76754787 76754787 72 ALL diagnosis snv PRKD2 missense G161S NM_016457 10-PANSDA MIR320E|PRKD2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00130:C1_1 -3 0.067 SQHIGH 6 27 33 0 42 42 Cosmic_Gene C C T C C TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 100422913|25865 19 47214194 47214194 23 ALL relapse snv UBR4 nonsense S1622* NM_020765 10-PANSHK UBR4 NONSENSE SNP Somatic 13 0.540 SQHIGH 25 41 66 0 60 60 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 23352 1 19489005 19489005 82 ALL relapse snv USP21 silent P405P NM_012475 10-PANSHK PPOX|USP21 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF00443:UCH 5 0.211 SQHIGH 14 52 66 1 70 71 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 5498|27005 1 161133768 161133768 38 ALL relapse snv DUSP27 missense N1027S NM_001080426 10-PANSHK DUSP27 MISSENSE SNP Somatic 0 0.130 SQHIGH 11 51 62 0 88 88 Cosmic_Gene A A G A A TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 92235 1 167097448 167097448 45 ALL relapse snv OR2M5 missense L130V NM_001004690 10-PANSHK OR2M5 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -4 0.089 SQHIGH 10 61 71 0 97 97 Cosmic_Gene C C G C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 127059 1 248308837 248308837 39 ALL relapse snv RAPGEF4 missense S691L NM_007023 10-PANSHK RAPGEF4 MISSENSE SNP Somatic PFAM:PF00789:UBX 8 0.298 SQHIGH 12 24 36 1 55 56 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 11069 2 173883447 173883447 45 ALL relapse snv FSIP2 silent G14G NM_173651 10-PANSHK FSIP2 SYNONYMOUS SNP Somatic 3 0.173 SQHIGH 12 40 52 0 52 52 A A G A A TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 401024 2 186603396 186603396 39 ALL relapse snv FSIP2 missense S2734L NM_173651 10-PANSHK FSIP2 MISSENSE SNP Somatic 13 0.540 SQHIGH 11 15 26 0 33 33 C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 401024 2 186659797 186659797 46 ALL relapse snv TRIP12 silent F1841F NM_004238 10-PANSHK TRIP12 SYNONYMOUS SNP Somatic 14 0.620 SQHIGH 17 28 45 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 9320 2 230636295 230636295 52 ALL relapse snv PASK nonsense S939* NM_015148 10-PANSHK PASK NONSENSE SNP Somatic 3 0.173 SQHIGH 20 34 54 1 28 29 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 23178 2 242063452 242063452 34 ALL relapse snv EFHB missense R646K NM_144715 10-PANSHK EFHB MISSENSE SNP Somatic 15 0.704 SQHIGH 13 24 37 0 50 50 C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 151651 3 19926104 19926104 55 ALL relapse snv KAT2B silent G447G NM_003884 10-PANSHK KAT2B SYNONYMOUS SNP Somatic 5 0.211 SQHIGH 16 34 50 0 58 58 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 8850 3 20164224 20164224 60 ALL relapse snv DCLK3 splice_region V485_E3splice_region NM_033403 10-PANSHK DCLK3 ACCEPTOR SNP Somatic 3 0.173 SQHIGH 7 24 31 0 48 48 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 85443 3 36763157 36763157 30 ALL relapse snv ZBTB47 nonsense E573* NM_145166 10-PANSHK ZBTB47 NONSENSE SNP Somatic 5 0.211 SQHIGH 17 65 82 1 92 93 G G T G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 92999 3 42704599 42704599 50 ALL relapse snv ACTR8 missense H369D NM_022899 10-PANSHK ACTR8 MISSENSE SNP Somatic 8 0.298 SQHIGH 6 20 26 0 44 44 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 93973 3 53907115 53907115 28 ALL relapse snv ADAMTS9 silent S210S NM_182920 10-PANSHK ADAMTS9|ADAMTS9-AS2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 1 0.142 SQHIGH 8 26 34 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 56999|100507098 3 64666926 64666926 23 ALL relapse snv ZNF721 missense R198H NM_133474 10-PANSHK ZNF721|ABCA11P MISSENSE|INTRON SNP Somatic 8 0.298 SQHIGH 17 56 73 0 59 59 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 170960|79963 4 437663 437663 48 ALL relapse snv LARP1B missense E867Q NM_018078 10-PANSHK LARP1B MISSENSE SNP Somatic 4 0.191 SQHIGH 19 29 48 0 41 41 G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 55132 4 129131062 129131062 60 ALL relapse snv PRLR silent A365A NM_001204316 10-PANSHK AGXT2|PRLR TSS-UPSTREAM|UTR3,SYNONYMOUS,UTR SNP Somatic 4 0.191 SQHIGH 27 46 73 0 64 64 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 64902|5618 5 35049428 35049428 86 ALL relapse snv CMYA5 silent P3275P NM_153610 10-PANSHK CMYA5 SYNONYMOUS SNP Somatic 5 0.211 SQHIGH 15 41 56 1 71 72 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 202333 5 79034413 79034413 49 ALL relapse snv GPR98 missense G4958V NM_032119 10-PANSHK GPR98 MISSENSE,UTR SNP Somatic 6 0.239 SQHIGH 14 35 49 0 45 45 Cosmic_Gene G G T G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 84059 5 90103455 90103455 44 ALL relapse snv AP3S1 missense F19L NM_001284 10-PANSHK ATG12|AP3S1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01217:Clat_adaptor_s 1 0.142 SQHIGH 34 63 97 0 66 66 C C G C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 9140|1176 5 115177791 115177791 89 ALL relapse snv GDF9 missense G191S NM_005260 10-PANSHK UQCRQ|GDF9 TSS-UPSTREAM|MISSENSE SNP Somatic -5 0.081 SQHIGH 6 38 44 1 66 67 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 27089|2661 5 132198075 132198075 18 ALL relapse snv DDX46 missense E254K NM_014829 10-PANSHK DDX46 MISSENSE SNP Somatic 15 0.704 SQHIGH 27 13 40 0 36 36 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 9879 5 134113410 134113410 104 ALL relapse snv PCDHGA12 missense A249T NM_003735 10-PANSHK PCDHGB5|PCDHGB4|PCDHGA6|PCDHGB7|PCDHGB2|PCDHGA10|PCDHGA8|PCDHGA3|PCDHGB3|PCDHGA4|PCDHGA11|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGA2|PCDHGA5|PCDHGA12|PCDHGA1|PCDHGB6 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON SNP Somatic 10 0.376 SQHIGH 16 28 44 1 30 31 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 56101|8641|56109|56099|56103|56106|9708|56112|56102|56111|56105|56107|56104|56108|56113|56110|26025|56114|56100 5 140811071 140811071 33 ALL relapse snv PCDH12 missense R692G NM_016580 10-PANSHK PCDH12 MISSENSE SNP Somatic 11 0.424 SQHIGH 47 35 82 0 73 73 Cosmic_Gene T T C T T TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 51294 5 141335343 141335343 169 ALL relapse snv ZBED9 silent H624H NM_052923 10-PANSHK ZBED9 SYNONYMOUS SNP Somatic 4 0.191 SQHIGH 15 48 63 0 63 63 Cosmic_Gene A A G A A TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 114821 6 28542610 28542610 49 ALL relapse snv TMEM14A silent V69V NM_014051 10-PANSHK TMEM14A SYNONYMOUS SNP Somatic PFAM:PF03647:Tmemb_14 14 0.620 SQHIGH 10 27 37 0 47 47 G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 28978 6 52548910 52548910 39 ALL relapse snv TINAG silent T3T NM_014464 10-PANSHK TINAG SYNONYMOUS SNP Somatic 13 0.540 SQHIGH 17 24 41 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 27283 6 54173357 54173357 58 ALL relapse snv BAI3 silent S327S NM_001704 10-PANSHK BAI3 SYNONYMOUS SNP Somatic 10 0.376 SQHIGH 7 15 22 0 24 24 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 577 6 69646523 69646523 25 ALL relapse snv GPR63 missense V61M NM_001143957 10-PANSHK GPR63 MISSENSE SNP Somatic 6 0.239 SQHIGH 15 42 57 1 66 67 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 81491 6 97247427 97247427 45 ALL relapse snv SCIN missense G555A NM_001112706 10-PANSHK SCIN MISSENSE SNP Somatic PFAM:PF00626:Gelsolin 7 0.267 SQHIGH 21 36 57 1 50 51 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 85477 7 12683845 12683845 56 ALL relapse snv ZNF679 missense G166S NM_153363 10-PANSHK ZNF679 MISSENSE SNP Somatic 6 0.239 SQHIGH 10 20 30 0 35 35 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 168417 7 63726507 63726507 38 ALL relapse snv ASB10 silent V70V NM_001142459 10-PANSHK ASB10 SYNONYMOUS,INTRON SNP Somatic -3 0.097 SQHIGH 10 56 66 0 56 56 G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 136371 7 150884008 150884008 28 ALL relapse snv FBXO16 missense R33P NM_172366 10-PANSHK FBXO16 MISSENSE SNP Somatic 12 0.478 SQHIGH 9 24 33 0 34 34 Cosmic_Gene C C G C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 157574 8 28340866 28340866 30 ALL relapse snv GOT1L1 missense E319K NM_152413 10-PANSHK GOT1L1 MISSENSE SNP Somatic 3 0.173 SQHIGH 28 55 83 0 122 122 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 137362 8 37792708 37792708 124 ALL relapse snv UG0898H09 EXON E5_exon NM_173688 10-PANSHK NKAIN3|UG0898H09 INTRON|UTR SNP Somatic 13 0.540 SQHIGH 21 24 45 1 46 48 C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 286183|643763 8 63891908 63891908 67 ALL relapse snv PAG1 nonsense Q272* NM_018440 10-PANSHK PAG1 NONSENSE SNP Somatic 10 0.376 SQHIGH 26 38 64 1 58 59 G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 55824 8 81897073 81897073 75 ALL relapse snv ATAD2 nonsense R977* NM_014109 10-PANSHK ATAD2 NONSENSE SNP Somatic 2 0.157 SQHIGH 5 21 26 0 21 21 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 29028 8 124349987 124349987 14 ALL relapse snv EPPK1 silent A2324A NM_031308 10-PANSHK EPPK1 SYNONYMOUS SNP dbsnp.129:rs56258403 Somatic PFAM:PF00681:Plectin -1 0.117 SQHIGH 7 44 51 0 52 52 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 83481 8 144940450 144940450 22 ALL relapse snv PCSK5 silent L522L NM_006200 10-PANSHK PCSK5 SYNONYMOUS SNP Somatic PFAM:PF01483:P_proprotein -10 0.054 SQHIGH 10 58 68 0 86 86 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 5125 9 78774032 78774032 37 ALL relapse snv PI4K2A missense R64G NM_018425 10-PANSHK PI4K2A MISSENSE SNP Somatic -5 0.081 SQHIGH 9 23 32 0 30 30 Cosmic_Gene C C G C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 55361 10 99400689 99400689 29 ALL relapse snv SEMA4G silent L608L NM_017893 10-PANSHK C10orf2|MRPL43|SEMA4G TSS-UPSTREAM|INTRON|SYNONYMOUS,INTRON SNP Somatic 2 0.157 SQHIGH 34 58 92 0 89 89 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 56652|84545|57715 10 102743180 102743180 116 ALL relapse snv PPP2R2D missense E65K NM_001291310 10-PANSHK PPP2R2D MISSENSE,UTR SNP Somatic PFAM:PF00400:WD40 8 0.298 SQHIGH 20 39 59 0 63 63 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 55844 10 133758831 133758831 72 ALL relapse snv PDDC1 silent S24S NM_182612 10-PANSHK PDDC1|LOC100506518 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -7 0.068 SQHIGH 12 82 94 0 77 77 C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 347862|100506518 11 775135 775135 33 ALL relapse snv KCNQ1OT1 EXON E10_exon NM_000218 10-PANSHK KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic -2 0.107 SQHIGH 7 22 29 1 44 45 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 3784|10984 11 2679399 2679399 23 ALL relapse snv CSNK2A3 missense Q207E NM_001256686 10-PANSHK GALNTL4|CSNK2A1P INTRON|UTR SNP Somatic 4 0.191 SQHIGH 24 48 72 0 66 66 G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 374378|283106 11 11374048 11374048 77 ALL relapse snv AMOTL1 silent P412P NM_130847 10-PANSHK AMOTL1 SYNONYMOUS SNP Somatic 9 0.333 SQHIGH 34 43 77 0 67 67 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 154810 11 94554810 94554810 112 ALL relapse snv ARHGEF12 nonsense S1002* NM_015313 10-PANSHK ARHGEF12 NONSENSE SNP Somatic 3 0.173 SQHIGH 6 13 19 0 25 25 Cosmic_Gene C C G C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 23365 11 120343808 120343808 24 ALL relapse snv SRGAP1 missense E394K NM_020762 10-PANSHK SRGAP1 MISSENSE SNP Somatic 6 0.239 SQHIGH 22 47 69 1 64 65 Cosmic_Gene G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 57522 12 64472753 64472753 60 ALL relapse snv CCDC168 missense P3698S NM_001146197 10-PANSHK CCDC168 MISSENSE SNP Somatic 2 0.157 SQHIGH 7 20 27 0 33 33 G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 643677 13 103391955 103391955 26 ALL relapse snv GAS6 missense M137T NM_000820 10-PANSHK GAS6|FLJ41484 TSS-UPSTREAM,MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF07645:EGF_CA 6 0.239 SQHIGH 17 48 65 0 72 72 Cosmic_Gene A A G A A TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 2621|650669 13 114542757 114542757 61 ALL relapse snv TMEM55B missense R245L NM_001100814 10-PANSHK TMEM55B|OSGEP MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF09788:Tmemb_55A 5 0.211 SQHIGH 22 56 78 1 86 87 C C A C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 90809|55644 14 20926839 20926839 68 ALL relapse snv TERF2 splice T280T NM_005652 10-PANSHK TERF2 SYNONYMOUS SNP Somatic 11 0.424 SQHIGH 8 20 28 0 24 24 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 7014 16 69404386 69404386 24 ALL relapse snv ADAT1 silent Q350Q NM_012091 10-PANSHK ADAT1 SYNONYMOUS,UTR SNP Somatic PFAM:PF02137:A_deamin 6 0.239 SQHIGH 19 43 62 0 80 80 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 23536 16 75642880 75642880 76 ALL relapse snv CABYR missense S468C NM_012189 10-PANSHK CABYR INTRON,MISSENSE SNP Somatic 8 0.298 SQHIGH 25 39 64 0 59 59 C C G C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 26256 18 21736868 21736868 83 ALL relapse snv KLHL14 missense A297S NM_020805 10-PANSHK KLHL14 MISSENSE SNP Somatic -1 0.117 SQHIGH 7 23 30 0 24 24 Cosmic_Gene C C A C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 57565 18 30349666 30349666 19 ALL relapse snv ANKLE1 silent T470T NM_152363 10-PANSHK ANKLE1 SYNONYMOUS SNP Somatic 11 0.424 SQHIGH 19 27 46 0 55 55 G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 126549 19 17394947 17394947 76 ALL relapse snv ZSWIM3 missense Q500H NM_080752 10-PANSHK ZSWIM1|ZSWIM3 TSS-UPSTREAM|MISSENSE,UTR SNP Somatic 7 0.267 SQHIGH 19 43 62 0 68 68 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 90204|140831 20 44506697 44506697 68 ALL relapse snv ZNF217 missense E446K NM_006526 10-PANSHK ZNF217 MISSENSE SNP Somatic 7 0.267 SQHIGH 21 42 63 0 55 55 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 7764 20 52198030 52198030 65 ALL relapse snv AIRE missense S474F NM_000383 10-PANSHK AIRE MISSENSE SNP Somatic -9 0.058 SQHIGH 3 3 6 0 12 12 Cosmic_Gene C C T C C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 326 21 45714304 45714304 16 ALL relapse snv ZNRF3-AS1 EXON E2_exon NM_032173 10-PANSHK ZNRF3 INTRON SNP Somatic -1 0.117 SQHIGH 7 15 22 0 23 23 Cosmic_Gene G G C G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 84133 22 29422987 29422987 24 ALL relapse snv PARVB silent L358L NM_001003828 10-PANSHK PARVB SYNONYMOUS SNP Somatic PFAM:PF00307:CH 10 0.376 SQHIGH 25 40 65 2 82 84 G G A G G TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 29780 22 44559767 44559767 82 ALL relapse snv TBL1X missense Q29E NM_005647 10-PANSHK TBL1X INTRON,MISSENSE SNP Somatic 20 0.996 SQHIGH 23 11 34 0 36 36 Cosmic_Gene C G C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 6907 X 9621711 9621711 98 ALL relapse snv DUSP21 silent N38N NM_022076 10-PANSHK DUSP21 SYNONYMOUS SNP Somatic PFAM:PF00782:DSPc 0 0.130 SQHIGH 21 19 40 0 40 40 Cosmic_Gene C T C TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 63904 X 44703492 44703492 79 ALL diagnosis snv UBR4 nonsense S1622* NM_020765 10-PANSHK UBR4 NONSENSE SNP Somatic 2 0.157 SQHIGH 9 33 42 0 60 60 Cosmic_Gene G G C G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 23352 1 19489005 19489005 37 ALL diagnosis snv EPHB2 silent Q980Q NM_017449 10-PANSHK EPHB2 SYNONYMOUS SNP Somatic 6 0.241 SQHIGH 22 69 91 0 85 85 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 2048 1 23240042 23240042 69 ALL diagnosis snv CADM3-AS1 EXON E10_exon NM_021189 10-PANSHK LOC100131825|DARC|CADM3 UTR|TSS-UPSTREAM|UTR3 SNP Somatic 5 0.212 SQHIGH 11 37 48 0 44 44 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 100131825|2532|57863 1 159170992 159170992 34 ALL diagnosis snv LAMC2 missense E1020K NM_005562 10-PANSHK LAMC2 MISSENSE SNP Somatic -4 0.088 SQHIGH 9 51 60 0 66 66 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 3918 1 183208687 183208687 30 ALL diagnosis snv ZNF514 silent L18L NM_032788 10-PANSHK ZNF514 SYNONYMOUS SNP Somatic 5 0.212 SQHIGH 12 44 56 0 48 48 C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 84874 2 95818945 95818945 35 ALL diagnosis snv TBC1D8 missense E124K NM_001102426 10-PANSHK TBC1D8 MISSENSE SNP Somatic -4 0.088 SQHIGH 7 30 37 0 28 28 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 11138 2 101670786 101670786 18 ALL diagnosis snv GPR155 silent V308V NM_001033045 10-PANSHK GPR155 SYNONYMOUS SNP Somatic PFAM:PF03547:Mem_trans 8 0.302 SQHIGH 8 25 33 0 44 44 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 151556 2 175335220 175335220 32 ALL diagnosis snv ZKSCAN7 silent L538L NM_018651 10-PANSHK ZNF167 SYNONYMOUS,INTRON SNP Somatic 6 0.241 SQHIGH 16 45 61 0 72 72 Cosmic_Gene C C G C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 55888 3 44612216 44612216 59 ALL diagnosis snv RFT1 missense S365L NM_052859 10-PANSHK RFT1 MISSENSE SNP Somatic PFAM:PF04506:Rft-1 -2 0.106 SQHIGH 12 66 78 1 83 84 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 91869 3 53137977 53137977 31 ALL diagnosis snv GOLGB1 missense E2511K NM_004487 10-PANSHK GOLGB1 MISSENSE SNP Somatic 10 0.381 SQHIGH 12 32 44 0 47 47 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 2804 3 121410665 121410665 42 ALL diagnosis snv CMYA5 silent P3275P NM_153610 10-PANSHK CMYA5 SYNONYMOUS SNP Somatic 9 0.338 SQHIGH 26 31 57 1 71 72 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 202333 5 79034413 79034413 97 ALL diagnosis snv DDX46 missense E254K NM_014829 10-PANSHK DDX46 MISSENSE SNP Somatic 0 0.129 SQHIGH 9 31 40 0 36 36 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 9879 5 134113410 134113410 27 ALL diagnosis snv TMEM14A silent V69V NM_014051 10-PANSHK TMEM14A SYNONYMOUS SNP Somatic PFAM:PF03647:Tmemb_14 -7 0.068 SQHIGH 4 29 33 0 47 47 G G C G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 28978 6 52548910 52548910 16 ALL diagnosis snv TINAG silent T3T NM_014464 10-PANSHK TINAG SYNONYMOUS SNP Somatic 2 0.157 SQHIGH 8 29 37 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 27283 6 54173357 54173357 27 ALL diagnosis snv DST missense S1773L NM_001723 10-PANSHK DST INTRON,MISSENSE SNP Somatic 3 0.173 SQHIGH 17 53 70 0 66 66 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 667 6 56483514 56483514 54 ALL diagnosis snv BAI3 silent S327S NM_001704 10-PANSHK BAI3 SYNONYMOUS SNP Somatic -3 0.096 SQHIGH 5 13 18 0 24 24 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 577 6 69646523 69646523 20 ALL diagnosis snv COL12A1 missense E326K NM_004370 10-PANSHK COL12A1 INTRON,MISSENSE SNP Somatic 15 0.708 SQHIGH 10 22 32 0 59 59 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 1303 6 75898099 75898099 50 ALL diagnosis snv MDN1 silent L1745L NM_014611 10-PANSHK MDN1 SYNONYMOUS SNP Somatic 17 0.863 SQHIGH 13 19 32 1 38 39 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 23195 6 90438764 90438764 42 ALL diagnosis snv SCIN missense G555A NM_001112706 10-PANSHK SCIN MISSENSE SNP Somatic PFAM:PF00626:Gelsolin 2 0.157 SQHIGH 12 47 59 1 50 51 Cosmic_Gene G G C G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 85477 7 12683845 12683845 26 ALL diagnosis snv PAG1 nonsense Q272* NM_018440 10-PANSHK PAG1 NONSENSE SNP Somatic 6 0.241 SQHIGH 16 41 57 1 58 59 G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 55824 8 81897073 81897073 45 ALL diagnosis snv DGAT1 splice_region G157_E6splice_region NM_012079 10-PANSHK DGAT1 ACCEPTOR SNP Somatic 9 0.338 SQHIGH 9 15 24 0 21 21 G G C G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 8694 8 145542233 145542233 28 ALL diagnosis snv FKBP15 silent L508L NM_015258 10-PANSHK FKBP15 SYNONYMOUS SNP Somatic -1 0.116 SQHIGH 10 46 56 0 50 50 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 23307 9 115947059 115947059 30 ALL diagnosis snv PPAPDC3 missense E67K NM_032728 10-PANSHK PPAPDC3 MISSENSE SNP Somatic -3 0.096 SQHIGH 10 29 39 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 84814 9 134165583 134165583 29 ALL diagnosis snv SORBS1 missense D1019E NM_001034954 10-PANSHK SORBS1 INTRON,MISSENSE SNP Somatic -2 0.106 SQHIGH 10 55 65 0 51 51 Cosmic_Gene G G T G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 10580 10 97096860 97096860 27 ALL diagnosis snv PPP2R2D missense E65K NM_001291310 10-PANSHK PPP2R2D MISSENSE,UTR SNP Somatic PFAM:PF00400:WD40 14 0.625 SQHIGH 46 39 85 0 63 63 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 55844 10 133758831 133758831 143 ALL diagnosis snv FAM168A missense G141E NM_015159 10-PANSHK FAM168A MISSENSE SNP Somatic 1 0.142 SQHIGH 11 44 55 0 59 59 C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 23201 11 73120705 73120705 37 ALL diagnosis snv AMOTL1 silent P412P NM_130847 10-PANSHK AMOTL1 SYNONYMOUS SNP Somatic -6 0.075 SQHIGH 9 41 50 0 67 67 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 154810 11 94554810 94554810 35 ALL diagnosis snv GRIN2B silent R4R NM_000834 10-PANSHK GRIN2B SYNONYMOUS SNP Somatic -7 0.068 SQHIGH 16 97 113 1 93 94 Cosmic_Gene T T G T T TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 2904 12 14019133 14019133 35 ALL diagnosis snv LRIG3 nonsense E787* NM_001136051 10-PANSHK LRIG3 NONSENSE SNP Somatic 10 0.381 SQHIGH 8 25 33 0 31 31 Cosmic_Gene C C A C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 121227 12 59270383 59270383 25 ALL diagnosis snv SRGAP1 missense E394K NM_020762 10-PANSHK SRGAP1 MISSENSE SNP Somatic 0 0.129 SQHIGH 9 59 68 1 64 65 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 57522 12 64472753 64472753 20 ALL diagnosis snv ATP8A2 missense E668K NM_016529 10-PANSHK ATP8A2 MISSENSE SNP Somatic 7 0.270 SQHIGH 23 60 83 1 80 81 Cosmic_Gene G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 51761 13 26154080 26154080 64 ALL diagnosis snv PATL2 missense S95F NM_001145112 10-PANSHK PATL2 MISSENSE SNP Somatic 12 0.484 SQHIGH 9 28 37 0 35 35 G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 197135 15 44966367 44966367 28 ALL diagnosis snv CASKIN1 missense R1101Q NM_020764 10-PANSHK CASKIN1 MISSENSE SNP Somatic -7 0.068 SQHIGH 7 18 25 0 15 15 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 57524 16 2230067 2230067 16 ALL diagnosis snv CD209 splice_region E250_E4splice_region NM_021155 10-PANSHK CD209 INTRON,DONOR SNP Somatic 4 0.192 SQHIGH 10 37 47 0 59 59 Cosmic_Gene C C G C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 30835 19 7810401 7810401 38 ALL diagnosis snv OR1M1 missense S312C NM_001004456 10-PANSHK OR1M1 MISSENSE SNP Somatic 1 0.142 SQHIGH 14 23 37 0 26 26 Cosmic_Gene C C G C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 125963 19 9204855 9204855 38 ALL diagnosis snv ZNF566 nonsense S352* NM_001145345 10-PANSHK ZNF566 NONSENSE SNP Somatic 0 0.129 SQHIGH 8 34 42 0 52 52 G G C G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 84924 19 36940081 36940081 30 ALL diagnosis snv ZNF343 splice_region A102_E6splice_region NM_024325 10-PANSHK ZNF343 ACCEPTOR SNP Somatic -6 0.075 SQHIGH 4 26 30 0 34 34 Cosmic_Gene T T C T T TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 79175 20 2465311 2465311 14 ALL diagnosis snv ZSWIM3 missense Q500H NM_080752 10-PANSHK ZSWIM1|ZSWIM3 TSS-UPSTREAM|MISSENSE,UTR SNP Somatic 12 0.484 SQHIGH 16 33 49 0 68 68 Cosmic_Gene G G C G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 90204|140831 20 44506697 44506697 68 ALL diagnosis snv ZNF217 missense E446K NM_006526 10-PANSHK ZNF217 MISSENSE SNP Somatic 3 0.173 SQHIGH 12 40 52 0 55 55 Cosmic_Gene C C T C C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 7764 20 52198030 52198030 41 ALL diagnosis snv PRPF6 missense E156Q NM_012469 10-PANSHK PRPF6 MISSENSE SNP Somatic PFAM:PF06424:PRP1_N 7 0.270 SQHIGH 19 43 62 0 73 73 Cosmic_Gene G G C G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 24148 20 62626296 62626296 72 ALL diagnosis snv PARVB silent L358L NM_001003828 10-PANSHK PARVB SYNONYMOUS SNP Somatic PFAM:PF00307:CH 1 0.142 SQHIGH 16 55 71 2 82 84 G G A G G TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 29780 22 44559767 44559767 41 ALL diagnosis snv DUSP21 silent N38N NM_022076 10-PANSHK DUSP21 SYNONYMOUS SNP Somatic PFAM:PF00782:DSPc 20 0.996 SQHIGH 29 1 30 0 40 40 Cosmic_Gene C T C TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 63904 X 44703492 44703492 181 ALL diagnosis snv LCE6A silent P49P NM_001128600 10-PANSIA LCE6A SYNONYMOUS SNP Somatic -7 0.063 SQHIGH 3 18 21 0 46 46 T T A T T TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 448835 1 152816143 152816143 16 ALL diagnosis snv KIF21B silent I643I NM_017596 10-PANSIA KIF21B SYNONYMOUS SNP Somatic 17 0.826 SQHIGH 17 16 33 1 33 34 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 23046 1 200967660 200967660 54 ALL diagnosis snv APLF silent L366L NM_173545 10-PANSIA APLF SYNONYMOUS SNP Somatic 14 0.563 SQHIGH 10 17 27 0 38 38 Cosmic_Gene A A G A A TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 200558 2 68765297 68765297 43 ALL diagnosis snv ZAP70 missense R360C NM_001079 10-PANSIA ZAP70 MISSENSE SNP Somatic 5 0.192 SQHIGH 11 9 20 1 27 28 Cosmic_Gene C C T C C TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 7535 2 98351171 98351171 42 ALL diagnosis snv TTN missense E5410K NM_133379 10-PANSIA TTN INTRON,MISSENSE SNP Somatic 4 0.172 SQHIGH 11 13 24 0 42 42 Cosmic_Gene C C T C C TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 7273 2 179610899 179610899 56 ALL diagnosis snv PPP2R2C missense R2H NM_001206994 10-PANSIA PPP2R2C MISSENSE SNP Somatic 15 0.644 SQHIGH 14 21 35 0 26 26 Cosmic_Gene C C T C C TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 5522 4 6537042 6537042 40 ALL diagnosis snv PDZD2 missense T2560M NM_178140 10-PANSIA PDZD2 MISSENSE SNP Somatic 18 0.879 SQHIGH 17 19 36 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 23037 5 32091233 32091233 61 ALL diagnosis snv DST missense R747Q NM_001723 10-PANSIA DST MISSENSE SNP Somatic 12 0.443 SQHIGH 16 26 42 0 31 31 Cosmic_Gene C C T C C TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 667 6 56496793 56496793 45 ALL diagnosis snv GLI1 missense G733R NM_005269 10-PANSIA GLI1 MISSENSE SNP Somatic 9 0.320 SQHIGH 15 31 46 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 2735 12 57864720 57864720 47 ALL diagnosis snv NAV3 missense A1646V NM_014903 10-PANSIA NAV3 MISSENSE SNP Somatic 10 0.353 SQHIGH 7 11 18 0 22 22 Cosmic_Gene C C T C C TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 89795 12 78562602 78562602 28 ALL diagnosis snv TBX3 missense R284W NM_005996 10-PANSIA TBX3 MISSENSE SNP Somatic 15 0.644 SQHIGH 18 23 41 0 42 42 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 6926 12 115115416 115115416 66 ALL diagnosis snv FLT3 missense S585P NM_004119 10-PANSIA FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 14 0.563 SQHIGH 15 27 42 0 54 54 Cosmic_Gene A A G A A TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 2322 13 28608303 28608303 61 ALL diagnosis snv SMOC1 missense V81M NM_001034852 10-PANSIA SMOC1 MISSENSE SNP Somatic PFAM:PF00050:Kazal_1 6 0.228 SQHIGH 22 24 46 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 64093 14 70418996 70418996 75 ALL diagnosis snv PTPN21 missense T560M NM_007039 10-PANSIA PTPN21 MISSENSE SNP Somatic -3 0.086 SQHIGH 8 19 27 0 16 16 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 11099 14 88946096 88946096 18 ALL diagnosis snv EMR1 missense V618I NM_001974 10-PANSIA EMR1 MISSENSE SNP Somatic PFAM:PF00002:7tm_2 4 0.172 SQHIGH 16 16 32 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 2015 19 6924749 6924749 69 ALL diagnosis snv SARS2 missense R461C NM_001145901 10-PANSIA LOC643669|SARS2 TSS-UPSTREAM|MISSENSE SNP Somatic 15 0.644 SQHIGH 13 15 28 1 45 46 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 643669|54938 19 39406519 39406519 54 ALL diagnosis snv GRIN2D missense V324M NM_000836 10-PANSIA GRIN2D MISSENSE SNP Somatic 2 0.139 SQHIGH 7 15 22 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 2906 19 48908495 48908495 28 ALL diagnosis snv STAU1 missense A161V NM_017454 10-PANSIA STAU1 MISSENSE SNP Somatic 9 0.320 SQHIGH 13 22 35 0 45 45 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 6780 20 47741009 47741009 53 ALL diagnosis snv ATP9A splice_region A616_E18splice_region NM_006045 10-PANSIA ATP9A ACCEPTOR SNP Somatic -8 0.058 SQHIGH 4 15 19 0 22 22 Cosmic_Gene A A T A A TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 10079 20 50241909 50241909 14 ALL diagnosis snv GNAS missense R580W NM_001077490 10-PANSIA GNAS|GNAS-AS1 INTRON,MISSENSE|TSS-UPSTREAM SNP Somatic -4 0.079 SQHIGH 10 5 15 0 12 12 Cosmic_Gene C C T C C TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 2778|149775 20 57430245 57430245 34 ALL diagnosis snv CACNA1I splice_region V1595_E29splice_region NM_021096 10-PANSIA CACNA1I ACCEPTOR SNP Somatic 14 0.563 SQHIGH 21 23 44 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 8911 22 40069964 40069964 59 ALL diagnosis snv EFCAB6-AS1 EXON E29_exon NM_022785 10-PANSIA EFCAB6 INTRON SNP Somatic 9 0.320 SQHIGH 23 36 59 1 36 37 Cosmic_Gene G G A G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 64800 22 43931089 43931089 47 ALL diagnosis snv MAGEE1 missense P141L NM_020932 10-PANSIA MAGEE1 MISSENSE SNP Somatic 17 0.826 SQHIGH 13 26 39 0 40 40 Cosmic_Gene C C T C C TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 57692 X 75648745 75648745 45 ALL diagnosis snv KIAA1210 nonsense Y1537* NM_020721 10-PANSIA KIAA1210 NONSENSE SNP Somatic 4 0.172 SQHIGH 17 39 56 0 44 44 Cosmic_Gene G G T G G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 57481 X 118220582 118220582 48 ALL diagnosis mnv CXCL1 splice_region S103_E3splice_region NM_001511 10-PANSIA CXCL1 DONOR Sub Somatic -5 0.386 SQHIGH 22 35 57 0 48 48 GA GA CC GA GA TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 2919 4 74735709 74735710 68 ALL diagnosis snv SLC7A14 silent K450K NM_020949 10-PANSPW SLC7A14 SYNONYMOUS SNP Somatic 7 0.189 SQHIGH 31 40 71 0 70 70 Cosmic_Gene C C T C C TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 57709 3 170198721 170198721 111 ALL diagnosis snv MUC4 silent P4953P NM_018406 10-PANSPW MUC4 SYNONYMOUS SNP Somatic 7 0.189 SQHIGH 37 20 57 2 51 53 C C T C C TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 4585 3 195486122 195486122 117 ALL diagnosis snv UGT2A3 missense R457L NM_024743 10-PANSPW UGT2A3 MISSENSE,UTR SNP Somatic PFAM:PF00201:UDPGT 5 0.143 SQHIGH 19 28 47 2 50 52 Cosmic_Gene C C A C C TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 79799 4 69795745 69795745 52 ALL diagnosis snv ART3 silent S103S NM_001130016 10-PANSPW ART3 SYNONYMOUS SNP Somatic PFAM:PF01129:ART 7 0.189 SQHIGH 25 42 67 0 59 59 Cosmic_Gene C C T C C TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 419 4 77003216 77003216 80 ALL diagnosis snv CCDC110 missense L745F NM_152775 10-PANSPW CCDC110 MISSENSE SNP Somatic 15 0.613 SQHIGH 8 16 24 0 28 28 Cosmic_Gene G G A G G TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 256309 4 186379508 186379508 30 ALL diagnosis snv PHF10 splice G408_E10splice NM_018288 10-PANSPW PHF10|C6orf120|WDR27 DISRUPT|UTR3|TSS-UPSTREAM SNP Somatic 1 0.097 SQHIGH 17 23 40 2 47 49 Cosmic_Gene C C T C C TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 55274|387263|253769 6 170105711 170105711 50 ALL diagnosis snv LOC100506258 EXON E6_exon NM_175733 10-PANSPW LOC100506258|SYT9 UTR|INTRON SNP Somatic 12 0.360 SQHIGH 16 28 44 0 50 50 Cosmic_Gene T T C T T TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 100506258|143425 11 7458892 7458892 60 ALL diagnosis snv PRICKLE1 silent D268D NM_153026 10-PANSPW PRICKLE1 SYNONYMOUS SNP Somatic 9 0.240 SQHIGH 15 31 46 1 49 50 Cosmic_Gene G G A G G TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 144165 12 42859032 42859032 44 ALL diagnosis snv COL2A1 missense T1352N NM_001844 10-PANSPW COL2A1 MISSENSE SNP Somatic PFAM:PF01410:COLFI 11 0.312 SQHIGH 24 25 49 0 61 61 Cosmic_Gene G G T G G TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 1280 12 48368477 48368477 102 ALL diagnosis snv SRRM2 missense A675G NM_016333 10-PANSPW LOC100652876|SRRM2 INTRON|MISSENSE SNP Somatic 4 0.130 SQHIGH 15 27 42 1 43 44 Cosmic_Gene C C G C C TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 100652876|23524 16 2812553 2812553 43 ALL diagnosis snv DGKE silent E4E NM_003647 10-PANSPW DGKE|LOC100131091 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -7 0.048 SQHIGH 5 43 48 0 36 36 Cosmic_Gene G G A G G TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 8526|100131091 17 54912168 54912168 13 ALL diagnosis snv PPM1D missense S558I NM_003620 10-PANSPW PPM1D MISSENSE SNP Somatic -7 0.048 SQHIGH 3 23 26 0 52 52 Cosmic_Gene G G T G G TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 8493 17 58740768 58740768 15 ALL diagnosis snv CDH4 silent F649F NM_001794 10-PANSPW CDH4 SYNONYMOUS SNP Somatic 9 0.240 SQHIGH 14 22 36 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 1002 20 60503423 60503423 52 ALL diagnosis snv MIR1-1HG silent P103P NM_178463 10-PANSPW C20orf166|LOC100131174 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 10 0.273 SQHIGH 10 18 28 2 46 48 G G A G G TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 128826|100131174 20 61167839 61167839 33 ALL diagnosis mnv LPAR2 missense N60_R61>KA NM_004720 10-PANSPW LPAR2 MISSENSE Sub Somatic PFAM:PF00001:7tm_1 -8 0.251 SQHIGH 9 55 64 2 70 72 Cosmic_Gene CGG CGG GCT CGG CGG TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 9170 19 19737912 19737914 18 ALL diagnosis snv TTN silent L4808L NM_133378 10-PANSUL TTN SYNONYMOUS,INTRON SNP Somatic PFAM:PF00047:ig 6 0.172 SQHIGH 14 49 63 0 57 57 Cosmic_Gene A A G A A TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 7273 2 179594973 179594973 43 ALL diagnosis snv WWC2 silent S548S NM_024949 10-PANSUL WWC2 SYNONYMOUS SNP Somatic -9 0.042 SQHIGH 7 52 59 0 68 68 Cosmic_Gene G G C G G TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 80014 4 184182420 184182420 24 ALL diagnosis snv TNF missense A160S NM_000594 10-PANSUL TNF|LOC100287329 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.091 SQHIGH 10 48 58 0 41 41 Cosmic_Gene G G T G G TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 7124|100287329 6 31545090 31545090 25 ALL diagnosis snv KMT2E splice H733D NM_182931 10-PANSUL KMT2E MISSENSE SNP Somatic 0 0.091 SQHIGH 9 37 46 0 44 44 Cosmic_Gene C C G C C TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 55904 7 104745886 104745886 28 ALL diagnosis snv ANK3 silent N3388N NM_020987 10-PANSUL ANK3 SYNONYMOUS,INTRON SNP dbsnp.134:rs148635129 Somatic 3 0.122 SQHIGH 11 52 63 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 288 10 61830475 61830475 31 ALL diagnosis snv LGR4 missense C795S NM_018490 10-PANSUL LGR4 MISSENSE SNP Somatic 9 0.247 SQHIGH 20 54 74 0 67 67 Cosmic_Gene C C G C C TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 55366 11 27389886 27389886 62 ALL diagnosis snv OR4C16 missense R120H NM_001004701 10-PANSUL OR4C16 MISSENSE SNP dbsnp.134:rs141382229 Somatic PFAM:PF00001:7tm_1 1 0.100 SQHIGH 14 48 62 0 64 64 Cosmic_Gene G G A G G TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 219428 11 55339962 55339962 47 ALL diagnosis snv ZFHX2 silent E1624E NM_033400 10-PANSUL ZFHX2 SYNONYMOUS SNP Somatic -4 0.063 SQHIGH 8 39 47 0 42 42 C C T C C TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 85446 14 23994279 23994279 24 ALL diagnosis snv SPINT1 missense G282S NM_181642 10-PANSUL SPINT1 MISSENSE SNP Somatic -7 0.050 SQHIGH 8 58 66 0 100 100 Cosmic_Gene G G A G G TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 6692 15 41146010 41146010 33 ALL diagnosis snv LOC100131303 missense R107Q NM_001282442 10-PANSUL SNP Somatic 3 0.122 SQHIGH 18 26 44 1 45 46 C C T C C TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 16 68048063 68048063 55 ALL diagnosis snv PHLPP1 missense P1698L NM_194449 10-PANSUL PHLPP1 MISSENSE SNP Somatic 3 0.122 SQHIGH 4 15 19 0 27 27 C C T C C TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 23239 18 60646603 60646603 16 ALL diagnosis snv GHRH silent P23P NM_021081 10-PANSUL GHRH SYNONYMOUS SNP Somatic -7 0.050 SQHIGH 10 49 59 0 78 78 Cosmic_Gene G G C G G TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 2691 20 35885224 35885224 39 ALL diagnosis complex COL1A1 frameshift G1250fs NM_000088 10-PANSUL COL1A1 FRAMESHIFT Sub Somatic PFAM:PF01410:COLFI -3 0.389 SQHIGH 5 20 25 0 48 48 Cosmic_Gene CC CC CGG CC CC TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 1277 17 48264066 48264067 25 ALL diagnosis snv DTYMK missense K51E NM_012145 10-PANSXG DTYMK MISSENSE,UTR SNP Somatic PFAM:PF02223:Thymidylate_kin 8 0.247 SQHIGH 13 35 48 0 47 47 T T C T T TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 1841 2 242625272 242625272 43 ALL diagnosis snv AFAP1-AS1 EXON E14_exon NM_001134647 10-PANSXG AFAP1-AS1|AFAP1 UTR|INTRON SNP Somatic 5 0.172 SQHIGH 13 44 57 0 44 44 G G A G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 84740|60312 4 7778723 7778723 35 ALL diagnosis snv KLHL2 missense I10F NM_001161521 10-PANSXG KLHL2 INTRON,UTR5,MISSENSE SNP Somatic -3 0.075 SQHIGH 16 82 98 0 43 43 A A T A A TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 11275 4 166131322 166131322 27 ALL diagnosis snv KLHL3 silent N419N NM_017415 10-PANSXG KLHL3 SYNONYMOUS SNP Somatic PFAM:PF01344:Kelch_1 13 0.447 SQHIGH 22 19 41 0 51 51 G G A G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 26249 5 136973047 136973047 96 ALL diagnosis snv KCNIP1 missense M40I NM_001034837 10-PANSXG KCNIP1 MISSENSE SNP Somatic 18 0.860 SQHIGH 14 16 30 0 53 53 Cosmic_Gene G G A G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 30820 5 170145787 170145787 73 ALL diagnosis snv NUDCD3 missense F342L NM_015332 10-PANSXG NUDCD3 MISSENSE SNP Somatic 6 0.201 SQHIGH 17 40 57 0 60 60 A A G A A TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 23386 7 44425672 44425672 59 ALL diagnosis snv DOK2 missense P411S NM_003974 10-PANSXG DOK2 MISSENSE SNP Somatic 3 0.137 SQHIGH 32 18 50 0 47 47 G G A G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 9046 8 21766830 21766830 124 ALL diagnosis snv ENO4 missense C463G NM_001242699 10-PANSXG ENO4 MISSENSE SNP Somatic PFAM:PF00113:Enolase_C 12 0.390 SQHIGH 15 26 41 1 46 47 Cosmic_Gene T T G T T TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 387712 10 118635621 118635621 47 ALL diagnosis snv MRVI1 missense L298Q NM_001098579 10-PANSXG MRVI1 INTRON,UTR5,MISSENSE SNP Somatic -5 0.063 SQHIGH 5 36 41 0 41 41 Cosmic_Gene A A T A A TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 10335 11 10647964 10647964 16 ALL diagnosis snv OR5M9 missense M79I NM_001004743 10-PANSXG OR5M9 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.201 SQHIGH 13 26 39 0 52 52 Cosmic_Gene C C A C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 390162 11 56230641 56230641 54 ALL diagnosis snv FAM111A missense F361L NM_022074 10-PANSXG FAM111A MISSENSE SNP Somatic 12 0.390 SQHIGH 11 23 34 0 33 33 Cosmic_Gene C C G C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 63901 11 58920224 58920224 37 ALL diagnosis snv SIDT2 missense L563I NM_001040455 10-PANSXG SIDT2 MISSENSE SNP Somatic -8 0.050 SQHIGH 4 31 35 0 38 38 C C A C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 51092 11 117061408 117061408 13 ALL diagnosis snv IGSF9B silent S591S NM_001277285 10-PANSXG IGSF9B SYNONYMOUS SNP Somatic 1 0.112 SQHIGH 13 12 25 0 26 26 G G A G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 22997 11 133796845 133796845 50 ALL diagnosis snv KRAS missense G12D NM_033360 10-PANSXG KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic -33 0.002 2 25 27 0 45 45 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 3845 12 25398284 25398284 9 ALL diagnosis snv KRT83 splice K218N NM_002282 10-PANSXG KRT83 MISSENSE SNP Somatic PFAM:PF00038:Filament 13 0.447 SQHIGH 14 22 36 0 33 33 Cosmic_Gene C C A C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 3889 12 52711694 52711694 46 ALL diagnosis snv EP400 silent A1868A NM_015409 10-PANSXG EP400|SNORA49 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -8 0.050 SQHIGH 6 45 51 0 27 27 Cosmic_Gene T T A T T TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 57634|677829 12 132514553 132514553 12 ALL diagnosis snv COL4A1 missense G981R NM_001845 10-PANSXG COL4A1 MISSENSE SNP Somatic 11 0.345 SQHIGH 20 26 46 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 1282 13 110829000 110829000 64 ALL diagnosis snv PKD1 missense D1713N NM_001009944 10-PANSXG PKD1 MISSENSE SNP Somatic 15 0.611 SQHIGH 11 18 29 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 5310 16 2160031 2160031 38 ALL diagnosis snv OSGIN1 missense T248M NM_182981 10-PANSXG NECAB2|OSGIN1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF07992:Pyr_redox_2 14 0.516 SQHIGH 10 10 20 0 22 22 Cosmic_Gene C C T C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 54550|29948 16 83998921 83998921 39 ALL diagnosis snv VMO1 silent R143R NM_182566 10-PANSXG GLTPD2|VMO1 TSS-UPSTREAM|UTR3,SYNONYMOUS SNP Somatic -2 0.083 SQHIGH 7 17 24 0 11 11 Cosmic_Gene G G T G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 388323|284013 17 4688837 4688837 13 ALL diagnosis snv DNAH9 missense R2812C NM_001372 10-PANSXG DNAH9 MISSENSE SNP Somatic PFAM:PF00485:PRK 10 0.306 SQHIGH 27 39 66 0 48 48 Cosmic_Gene C C T C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 1770 17 11711062 11711062 77 ALL diagnosis snv NPC1 missense C240Y NM_000271 10-PANSXG NPC1 MISSENSE SNP Somatic 9 0.276 SQHIGH 26 42 68 0 42 42 Cosmic_Gene C C T C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 4864 18 21140357 21140357 64 ALL diagnosis snv OR7C1 missense T133M NM_198944 10-PANSXG OR7C1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 15 0.611 SQHIGH 9 15 24 0 23 23 Cosmic_Gene G G A G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 26664 19 14910551 14910551 30 ALL diagnosis snv ZNF574 nonsense E3* NM_022752 10-PANSXG ZNF574 NONSENSE SNP Somatic -4 0.069 SQHIGH 6 44 50 1 56 57 G G T G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 64763 19 42582765 42582765 14 ALL diagnosis snv RSPO4 missense R228C NM_001029871 10-PANSXG RSPO4 MISSENSE SNP Somatic 5 0.172 SQHIGH 11 8 19 0 31 31 G G A G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 343637 20 941023 941023 57 ALL diagnosis snv CECR5 missense R158C NM_017829 10-PANSXG CECR5 MISSENSE SNP Somatic 9 0.276 SQHIGH 14 27 41 0 53 53 G G A G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 27440 22 17623997 17623997 57 ALL diagnosis snv LOC100288814 silent F15F NM_001195081 10-PANSXG LOC100288814 SYNONYMOUS SNP Somatic 6 0.201 SQHIGH 17 52 69 0 49 49 C C T C C TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 100288814 X 9935442 9935442 44 ALL diagnosis snv RPS26P11 EXON E1_exon NM_001013627 10-PANSXG RPS26P11|NHSL2 UTR|INTRON SNP Somatic -7 0.054 SQHIGH 7 41 48 0 26 26 G G A G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 441502|340527 X 71264674 71264674 14 ALL diagnosis snv MAP7D3 splice E140_E5splice NM_024597 10-PANSXG MAP7D3 DISRUPT SNP Somatic -2 0.083 SQHIGH 9 38 47 0 18 18 Cosmic_Gene T T C T T TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 79649 X 135323438 135323438 14 ALL diagnosis complex USP1 frameshift I666fs NM_003368 10-PANSXG USP1 FRAMESHIFT Sub Somatic 5 1.000 SQHIGH 14 25 39 0 44 44 Cosmic_Gene AT AT ACC AT AT TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 7398 1 62916290 62916291 52 ALL diagnosis complex USP1 frameshift L668_L669fs NM_003368 10-PANSXG USP1 FRAMESHIFT Sub Somatic -9 0.273 SQHIGH 19 31 50 0 52 52 Cosmic_Gene TTCTT TTCTT TGGGGGGTCC TTCTT TTCTT TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 7398 1 62916297 62916301 68 ALL diagnosis complex TECRL frameshift P113fs NM_001010874 10-PANSXG TECRL FRAMESHIFT Sub Somatic PFAM:PF00789:UBX -8 0.289 SQHIGH 9 19 28 1 26 27 AAG AAG AT AAG AAG TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 253017 4 65188502 65188504 22 ALL diagnosis snv LRRC7 nonsense R567* NM_020794 10-PANUHA LRRC7 NONSENSE SNP Somatic -6 0.071 SQHIGH 13 28 41 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 57554 1 70493872 70493872 40 ALL diagnosis snv PGBD5 missense S480N NM_001258311 10-PANUHA PGBD5 MISSENSE SNP Somatic -1 0.108 SQHIGH 10 38 48 1 37 38 Cosmic_Gene C C T C C TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 79605 1 230459307 230459307 20 ALL diagnosis snv WHSC1 missense E1099K NM_133330 10-PANUHA WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET 7 0.233 SQHIGH 12 34 46 0 59 59 Cosmic_Gene G G A G G TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 7468 4 1962801 1962801 47 ALL diagnosis snv CABS1 missense E289K NM_033122 10-PANUHA CABS1 MISSENSE SNP Somatic 1 0.130 SQHIGH 10 41 51 0 67 67 Cosmic_Gene G G A G G TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 85438 4 71201621 71201621 39 ALL diagnosis snv PHF2 silent G1030G NM_005392 10-PANUHA PHF2 SYNONYMOUS SNP Somatic 3 0.154 SQHIGH 11 16 27 0 20 20 Cosmic_Gene C C T C C TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 5253 9 96439133 96439133 31 ALL diagnosis snv CASP12 missense S269Y NM_001191016 10-PANUHA CASP12 MISSENSE SNP Somatic 13 0.472 SQHIGH 12 24 36 0 33 33 G G T G G TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 100506742 11 104761112 104761112 38 ALL diagnosis snv POU2F3 silent L104L NM_014352 10-PANUHA POU2F3 SYNONYMOUS SNP Somatic -9 0.056 SQHIGH 6 16 22 0 32 32 Cosmic_Gene T T C T T TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 25833 11 120170384 120170384 25 ALL diagnosis snv FAM155A missense V265I NM_001080396 10-PANUHA FAM155A MISSENSE SNP Somatic 5 0.184 SQHIGH 8 30 38 0 31 31 Cosmic_Gene C C T C C TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 728215 13 108518152 108518152 22 ALL diagnosis snv IKZF3 missense D41V NM_012481 10-PANUHA IKZF3 MISSENSE SNP Somatic 7 0.233 SQHIGH 7 24 31 0 34 34 Cosmic_Gene T T A T T TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 22806 17 37985681 37985681 24 ALL diagnosis snv TSHZ3 missense A86D NM_020856 10-PANUHA TSHZ3 MISSENSE SNP Somatic 2 0.141 SQHIGH 12 46 58 0 49 49 Cosmic_Gene G G T G G TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 57616 19 31770442 31770442 34 ALL diagnosis snv FTCD splice_region V123_E3splice_region NM_206965 10-PANUHA FTCD DONOR SNP Somatic -5 0.077 SQHIGH 5 24 29 0 27 27 Cosmic_Gene G G A G G TARGET-10-PANUHA-09A-01D TARGET-10-PANUHA-10A-01D 10841 21 47572815 47572815 15 ALL relapse snv TM4SF4 missense D73E NM_004617 10-PANUKN TM4SF4 MISSENSE SNP Somatic PFAM:PF05805:L6_membrane -5 0.094 SQHIGH 3 18 21 0 41 41 C C A C C TARGET-10-PANUKN-04A-01D TARGET-10-PANUKN-10A-01D 7104 3 149193654 149193654 15 ALL relapse snv SHARPIN splice_region E173_E4splice_region NM_030974 10-PANUKN SHARPIN|MAF1 ACCEPTOR|TSS-UPSTREAM SNP Somatic -4 0.102 SQHIGH 7 32 39 1 55 56 Cosmic_Gene T T A T T TARGET-10-PANUKN-04A-01D TARGET-10-PANUKN-10A-01D 81858|84232 8 145154756 145154756 21 ALL relapse snv MLST8 missense C34R NM_022372 10-PANUKN MLST8 MISSENSE SNP Somatic -3 0.110 SQHIGH 3 9 12 0 24 24 T T C T T TARGET-10-PANUKN-04A-01D TARGET-10-PANUKN-10A-01D 64223 16 2256186 2256186 15 ALL diagnosis snv UBR4 missense A4493T NM_020765 10-PANUKN UBR4 MISSENSE SNP dbsnp.134:rs142148172 Somatic 16 0.733 SQHIGH 28 21 49 0 59 59 Cosmic_Gene C C T C C TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 23352 1 19423058 19423058 122 ALL diagnosis snv EMC1 silent L556L NM_015047 10-PANUKN LOC100652915|KIAA0090 INTRON|SYNONYMOUS SNP Somatic 15 0.660 SQHIGH 32 27 59 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 100652915|23065 1 19559234 19559234 116 ALL diagnosis snv ZCCHC17 missense R53Q NM_016505 10-PANUKN ZCCHC17 MISSENSE SNP dbsnp.134:rs140039051 Somatic 11 0.407 SQHIGH 11 21 32 0 36 36 Cosmic_Gene G G A G G TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 51538 1 31810055 31810055 41 ALL diagnosis snv B4GALT2 missense F32L NM_003780 10-PANUKN B4GALT2 MISSENSE SNP Somatic 12 0.457 SQHIGH 20 28 48 0 46 46 Cosmic_Gene T T A T T TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 8704 1 44446928 44446928 69 ALL diagnosis snv NRAS missense G13D NM_002524 10-PANUKN NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 9 0.330 SQHIGH 14 29 43 0 34 34 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 4893 1 115258744 115258744 40 ALL diagnosis snv NRAS missense G12V NM_002524 10-PANUKN NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 11 0.407 SQHIGH 14 26 40 0 34 35 COSMIC:mut:566 Cosmic_Gene C C A C C TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 4893 1 115258747 115258747 43 ALL diagnosis snv EFNA1 missense F108L NM_004428 10-PANUKN EFNA1|SLC50A1 MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.247 SQHIGH 19 36 55 0 54 54 Cosmic_Gene C C G C C TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 1942|55974 1 155104046 155104046 65 ALL diagnosis snv KCTD8 missense R129Q NM_198353 10-PANUKN KCTD8 MISSENSE SNP Somatic PFAM:PF00651:BTB 2 0.172 SQHIGH 5 11 16 0 14 14 Cosmic_Gene C C T C C TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 386617 4 44450155 44450155 15 ALL diagnosis snv C2 missense R132H NM_000063 10-PANUKN C2 INTRON,MISSENSE SNP Somatic -4 0.102 SQHIGH 12 26 38 1 35 36 Cosmic_Gene G G A G G TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 717 6 31896647 31896647 30 ALL diagnosis snv LOC101927990 EXON E9_exon NM_006073 10-PANUKN TRDN INTRON SNP Somatic 13 0.512 SQHIGH 15 27 42 0 38 38 Cosmic_Gene G G A G G TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 10345 6 123792224 123792224 48 ALL diagnosis snv SVIL missense A1615T NM_003174 10-PANUKN SVIL MISSENSE SNP Somatic PFAM:PF00626:Gelsolin 14 0.584 SQHIGH 14 12 26 0 25 25 Cosmic_Gene C C T C C TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 6840 10 29754536 29754536 51 ALL diagnosis snv ECD missense T586M NM_007265 10-PANUKN ECD MISSENSE,UTR SNP Somatic PFAM:PF07093:SGT1 8 0.299 SQHIGH 23 15 38 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 11319 10 74894519 74894519 81 ALL diagnosis snv RBM20 nonsense R726* NM_001134363 10-PANUKN RBM20 NONSENSE SNP Somatic 1 0.157 SQHIGH 24 24 48 1 40 41 C C T C C TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 282996 10 112572331 112572331 68 ALL diagnosis snv BEST1 missense V532A NM_004183 10-PANUKN BEST1 MISSENSE SNP Somatic 6 0.247 SQHIGH 29 27 56 0 62 62 Cosmic_Gene T T C T T TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 7439 11 61730221 61730221 116 ALL diagnosis snv PDPR missense F718L NM_017990 10-PANUKN PDPR MISSENSE SNP Somatic 3 0.186 SQHIGH 16 40 56 0 77 77 Cosmic_Gene T T A T T TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 55066 16 70187395 70187395 66 ALL diagnosis snv THOC1 silent R612R NM_005131 10-PANUKN THOC1 SYNONYMOUS SNP Somatic -6 0.088 SQHIGH 5 29 34 0 25 25 Cosmic_Gene T T C T T TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 9984 18 214764 214764 13 ALL diagnosis snv RYR1 splice_region G2343_E44splice_region NM_000540 10-PANUKN RYR1 ACCEPTOR SNP Somatic 3 0.186 SQHIGH 14 19 33 1 25 26 Cosmic_Gene G G A G G TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 6261 19 38990265 38990265 33 ALL diagnosis snv KPTN silent P143P NM_007059 10-PANUKN LOC100505681|KPTN TSS-UPSTREAM|SYNONYMOUS SNP Somatic 12 0.457 SQHIGH 14 18 32 0 27 27 Cosmic_Gene C C T C C TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 100505681|11133 19 47986438 47986438 45 ALL diagnosis snv NCAPH2 missense I54N NM_014551 10-PANUKN NCAPH2 MISSENSE SNP Somatic PFAM:PF06278:DUF1032 11 0.407 SQHIGH 19 24 43 0 54 54 Cosmic_Gene T T A T T TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 29781 22 50954928 50954928 79 ALL diagnosis complex MAGOHB frameshift A2_V3fs NM_018048 10-PANUKN MAGOHB FRAMESHIFT Sub Somatic 2 0.760 SQHIGH 25 32 57 0 48 48 Cosmic_Gene CACAG CACAG CTA CACAG CACAG TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 55110 12 10766123 10766127 80 ALL diagnosis snv EPHA8 silent T69T NM_020526 10-PANURW EPHA8 SYNONYMOUS SNP Somatic 15 0.609 SQHIGH 17 25 42 0 57 57 Cosmic_Gene G G A G G TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 2046 1 22902757 22902757 73 ALL diagnosis snv ZBED9 missense P9L NM_052923 10-PANURW ZBED9 MISSENSE SNP Somatic 12 0.382 SQHIGH 16 18 34 0 27 27 Cosmic_Gene G G A G G TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 114821 6 28554469 28554469 50 ALL diagnosis snv HR silent P480P NM_005144 10-PANURW HR SYNONYMOUS SNP Somatic 2 0.126 SQHIGH 14 19 33 0 49 49 Cosmic_Gene C C T C C TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 55806 8 21983211 21983211 64 ALL diagnosis snv CUZD1 missense R596W NM_022034 10-PANURW CUZD1|FAM24B-CUZD1 MISSENSE,UTR|UTR SNP dbsnp.134:rs139868556 Somatic 13 0.441 SQHIGH 11 7 18 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 50624|100533195 10 124591832 124591832 61 ALL diagnosis snv SLC11A2 missense V136L NM_000617 10-PANURW SLC11A2 MISSENSE,UTR SNP Somatic PFAM:PF01566:Nramp 12 0.382 SQHIGH 18 29 47 0 52 52 Cosmic_Gene C C G C C TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 4891 12 51398594 51398594 67 ALL diagnosis snv RILPL2 nonsense E101* NM_145058 10-PANURW RILPL2 NONSENSE SNP Somatic 13 0.441 SQHIGH 23 26 49 0 38 38 C C A C C TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 196383 12 123920667 123920667 70 ALL diagnosis snv MYH1 silent H1905H NM_005963 10-PANURW MYH1 SYNONYMOUS SNP dbsnp.134:rs144369124 Somatic PFAM:PF01576:Myosin_tail_1 -4 0.073 SQHIGH 12 14 26 0 17 17 Cosmic_Gene G G A G G TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 4619 17 10395838 10395838 32 ALL diagnosis snv TRIOBP splice_region E570_E11splice_region NM_007032 10-PANURW TRIOBP DONOR SNP Somatic 11 0.333 SQHIGH 30 41 71 1 54 55 Cosmic_Gene G G A G G TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 11078 22 38165387 38165387 77 ALL diagnosis snv UBE2A missense R6W NM_003336 10-PANURW UBE2A MISSENSE SNP Somatic 9 0.261 SQHIGH 17 1 18 0 11 11 C T C TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 7319 X 118708690 118708690 65 ALL diagnosis mnv TCTN3 missense F577_S578>LF NM_015631 10-PANURW TCTN3 MISSENSE Sub Somatic -10 0.256 SQHIGH 3 9 12 0 21 21 CTG CTG AAT CTG CTG TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 26123 10 97423915 97423917 14 ALL diagnosis complex ASXL1 frameshift N550_E553fs NM_015338 10-PANURW ASXL1 FRAMESHIFT Sub Somatic -10 0.256 SQHIGH 22 47 69 0 102 102 Cosmic_Gene ACACAATTGA ACACAATTGA AGGGG ACACAATTGA ACACAATTGA TARGET-10-PANURW-09A-01D TARGET-10-PANURW-14A-01D 171023 20 31021650 31021659 97 ALL diagnosis snv PTGFRN missense R454C NM_020440 10-PANUSN PTGFRN MISSENSE SNP Somatic -5 0.074 SQHIGH 6 43 49 0 57 57 Cosmic_Gene C C T C C TARGET-10-PANUSN-09A-01D TARGET-10-PANUSN-14A-01D 5738 1 117504011 117504011 21 ALL diagnosis snv TMPRSS11E silent A399A NM_014058 10-PANUSN TMPRSS11E SYNONYMOUS SNP Somatic -2 0.096 SQHIGH 7 34 41 0 47 47 Cosmic_Gene G G A G G TARGET-10-PANUSN-09A-01D TARGET-10-PANUSN-14A-01D 28983 4 69362447 69362447 25 ALL diagnosis snv IBSP missense R286H NM_004967 10-PANUSN IBSP MISSENSE SNP Somatic PFAM:PF05432:BSP_II -3 0.087 SQHIGH 13 67 80 0 66 66 G G A G G TARGET-10-PANUSN-09A-01D TARGET-10-PANUSN-14A-01D 3381 4 88732965 88732965 36 ALL diagnosis snv TET2 nonsense S1107* NM_001127208 10-PANUSN TET2 NONSENSE SNP Somatic -6 0.069 SQHIGH 8 43 51 0 55 55 Cosmic_Gene C C A C C TARGET-10-PANUSN-09A-01D TARGET-10-PANUSN-14A-01D 54790 4 106158419 106158419 27 ALL diagnosis snv KIAA0368 missense K1855N NM_001080398 10-PANUSN KIAA0368 MISSENSE SNP Somatic -6 0.069 SQHIGH 4 18 22 0 26 26 C C A C C TARGET-10-PANUSN-09A-01D TARGET-10-PANUSN-14A-01D 23392 9 114131397 114131397 14 ALL diagnosis snv OR52I2 silent I122I NM_001005170 10-PANUSN OR52I2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 4 0.166 SQHIGH 14 56 70 0 61 61 Cosmic_Gene C C A C C TARGET-10-PANUSN-09A-01D TARGET-10-PANUSN-14A-01D 143502 11 4608408 4608408 41 ALL diagnosis snv GCN1L1 missense Y227C NM_006836 10-PANUSN GCN1L1 MISSENSE SNP Somatic -2 0.096 SQHIGH 14 69 83 0 67 67 Cosmic_Gene T T C T T TARGET-10-PANUSN-09A-01D TARGET-10-PANUSN-14A-01D 10985 12 120615536 120615536 38 ALL diagnosis snv KIR3DL2 missense R99H NM_006737 10-PANUSN KIR3DL2 MISSENSE SNP dbsnp.134:rs142612567 Somatic -13 0.040 4 37 41 0 45 45 Cosmic_Gene G G A G G TARGET-10-PANUSN-09A-01D TARGET-10-PANUSN-14A-01D 3812 19 55363678 55363678 13 ALL diagnosis snv KIFC1 missense R356Q NM_002263 10-PANUUF KIFC1 MISSENSE SNP Somatic 8 0.241 SQHIGH 8 21 29 1 33 34 G G A G G TARGET-10-PANUUF-09B-01D TARGET-10-PANUUF-14A-01D 3833 6 33372939 33372939 22 ALL diagnosis snv DMTF1 missense I232T NM_021145 10-PANUUF DMTF1 MISSENSE,UTR SNP Somatic 14 0.536 SQHIGH 13 16 29 1 30 31 Cosmic_Gene T T C T T TARGET-10-PANUUF-09B-01D TARGET-10-PANUUF-14A-01D 9988 7 86810642 86810642 39 ALL diagnosis snv TUBGCP3 missense S905F NM_006322 10-PANUUF TUBGCP3 MISSENSE SNP Somatic 16 0.718 SQHIGH 14 11 25 0 31 31 Cosmic_Gene G G A G G TARGET-10-PANUUF-09B-01D TARGET-10-PANUUF-14A-01D 10426 13 113140317 113140317 61 ALL diagnosis snv CSTL1 silent N57N NM_138283 10-PANUUF CSTL1 SYNONYMOUS SNP Somatic 11 0.349 SQHIGH 24 40 64 0 56 56 C C T C C TARGET-10-PANUUF-09B-01D TARGET-10-PANUUF-14A-01D 128817 20 23421075 23421075 76 ALL diagnosis snv NRAS missense G12A NM_002524 10-PANVYR NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 3 0.157 SQHIGH 10 30 40 0 42 42 COSMIC:mut:565 Cosmic_Gene C C G C C TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 4893 1 115258747 115258747 34 ALL diagnosis snv ALS2 missense L914V NM_020919 10-PANVYR ALS2 MISSENSE SNP Somatic -4 0.083 SQHIGH 5 15 20 0 27 27 Cosmic_Gene G G C G G TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 57679 2 202593336 202593336 20 ALL diagnosis snv NHP2 splice T112T NM_017838 10-PANVYR NHP2 SYNONYMOUS,INTRON SNP Somatic PFAM:PF01248:Ribosomal_L7Ae 12 0.423 SQHIGH 18 28 46 0 48 48 C C T C C TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 55651 5 177577889 177577889 65 ALL diagnosis snv NHSL1 silent T247T NM_020464 10-PANVYR NHSL1 SYNONYMOUS SNP Somatic 8 0.262 SQHIGH 8 23 31 1 36 37 T T A T T TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 57224 6 138754753 138754753 22 ALL diagnosis snv MYO1G splice A720S NM_033054 10-PANVYR MYO1G MISSENSE SNP Somatic 18 0.881 SQHIGH 18 18 36 0 35 35 Cosmic_Gene C C A C C TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 64005 7 45005459 45005459 65 ALL diagnosis snv PDIA4 silent A326A NM_004911 10-PANVYR PDIA4 SYNONYMOUS SNP dbsnp.134:rs150481375 Somatic 5 0.188 SQHIGH 21 30 51 0 50 50 Cosmic_Gene G G A G G TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 9601 7 148708939 148708939 74 ALL diagnosis snv TSNARE1 silent A371A NM_145003 10-PANVYR TSNARE1 SYNONYMOUS SNP Somatic 10 0.328 SQHIGH 14 32 46 0 45 45 C C T C C TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 203062 8 143395763 143395763 46 ALL diagnosis snv TACC2 missense R1331Q NM_206862 10-PANVYR TACC2 INTRON,MISSENSE SNP Somatic 19 0.949 SQHIGH 16 20 36 0 44 44 Cosmic_Gene G G A G G TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 10579 10 123846007 123846007 66 ALL diagnosis snv HS6ST3 missense D413E NM_153456 10-PANVYR HS6ST3 MISSENSE SNP Somatic 10 0.328 SQHIGH 24 35 59 0 56 56 Cosmic_Gene T T A T T TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 266722 13 97485275 97485275 82 ALL diagnosis snv ITPK1-AS1 EXON E3_exon NM_014216 10-PANVYR ITPK1-AS1|ITPK1 UTR|INTRON SNP Somatic -10 0.053 SQHIGH 9 13 22 0 38 38 A A C A A TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 319085|3705 14 93534367 93534367 45 ALL diagnosis snv C14orf180 nonsense C111* NM_001008404 10-PANVYR C14orf180 NONSENSE SNP Somatic -9 0.056 SQHIGH 23 25 48 0 39 39 C C A C C TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 400258 14 105054970 105054970 73 ALL diagnosis snv DLL4 missense A8V NM_019074 10-PANVYR DLL4 MISSENSE SNP Somatic -4 0.083 SQHIGH 4 8 12 0 18 18 Cosmic_Gene C C T C C TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 54567 15 41221889 41221889 17 ALL diagnosis snv SDF2 missense Q55E NM_006923 10-PANVYR SDF2 MISSENSE SNP Somatic -8 0.061 SQHIGH 4 27 31 0 34 34 G G C G G TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 6388 17 26982490 26982490 13 ALL diagnosis snv CACNA1G missense V1762M NM_018896 10-PANVYR CACNA1G MISSENSE SNP Somatic PFAM:PF00520:Ion_trans PFAM:PF08016:PKD_channel 9 0.294 SQHIGH 18 24 42 0 49 49 Cosmic_Gene G G A G G TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 8913 17 48695466 48695466 71 ALL diagnosis snv MTMR4 missense V814I NM_004687 10-PANVYR MTMR4 MISSENSE SNP dbsnp.134:rs141120541 Somatic 11 0.371 SQHIGH 25 34 59 0 52 52 Cosmic_Gene C C T C C TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 9110 17 56573063 56573063 82 ALL diagnosis snv SNAI1 missense D219H NM_005985 10-PANVYR SNAI1 MISSENSE SNP Somatic -4 0.083 SQHIGH 6 28 34 0 34 34 Cosmic_Gene G G C G G TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 6615 20 48604453 48604453 19 ALL diagnosis mnv LRP8 missense L594_S595>LP NM_004631 10-PANVYR LRP8 MISSENSE Sub Somatic PFAM:PF00058:Ldl_recept_b -8 0.282 SQHIGH 7 32 39 0 30 30 CTC CTC GGA CTC CTC TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 7804 1 53727870 53727872 18 ALL diagnosis complex GYLTL1B proteinDel G227_V229>PP NM_152312 10-PANVYR GYLTL1B DELETE+ Sub Somatic -1 0.522 SQHIGH 15 27 42 0 53 53 Cosmic_Gene CGGTCTTGT CGGTCTTGT CCCCCC CGGTCTTGT CGGTCTTGT TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 120071 11 45946349 45946357 60 ALL diagnosis mnv GYLTL1B missense E230_N231>GD NM_152312 10-PANVYR GYLTL1B MISSENSE Sub Somatic 4 0.913 SQHIGH 14 26 40 0 47 47 Cosmic_Gene AGA AGA GGG AGA AGA TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 120071 11 45946360 45946362 54 ALL relapse snv POU3F3 missense N231D NM_006236 10-PANVYR POU3F3|LOC100506421 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.117 SQHIGH 4 6 10 0 15 15 Cosmic_Gene A A G A A TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 5455|100506421 2 105472659 105472659 18 ALL relapse snv ZSWIM2 missense R275H NM_182521 10-PANVYR ZSWIM2 MISSENSE SNP Somatic 3 0.154 SQHIGH 7 24 31 0 40 40 Cosmic_Gene C C T C C TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 151112 2 187698677 187698677 27 ALL relapse snv KIF1A missense R1437C NM_004321 10-PANVYR KIF1A MISSENSE SNP Somatic 9 0.299 SQHIGH 16 21 37 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 547 2 241661926 241661926 52 ALL relapse snv EGF missense M121L NM_001963 10-PANVYR EGF MISSENSE SNP Somatic 5 0.187 SQHIGH 5 12 17 0 33 33 Cosmic_Gene A A T A A TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 1950 4 110864443 110864443 25 ALL relapse snv PSMG3 silent V86V NM_032302 10-PANVYR KIAA1908|PSMG3 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF10178:DUF2372 11 0.377 SQHIGH 15 29 44 0 44 44 C C A C C TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 114796|84262 7 1607445 1607445 51 ALL relapse snv MYO1G splice A720S NM_033054 10-PANVYR MYO1G MISSENSE SNP Somatic 17 0.845 SQHIGH 15 14 29 0 35 35 Cosmic_Gene C C A C C TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 64005 7 45005459 45005459 63 ALL relapse snv KDM7A silent D609D NM_030647 10-PANVYR KDM7A SYNONYMOUS SNP Somatic -7 0.064 SQHIGH 4 31 35 0 39 39 Cosmic_Gene A A G A A TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 80853 7 139798770 139798770 13 ALL relapse snv PDIA4 silent A326A NM_004911 10-PANVYR PDIA4 SYNONYMOUS SNP dbsnp.134:rs150481375 Somatic 10 0.334 SQHIGH 20 27 47 0 50 50 Cosmic_Gene G G A G G TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 9601 7 148708939 148708939 74 ALL relapse snv ASIC3 splice_region I179_E2splice_region NM_004769 10-PANVYR ASIC3 ACCEPTOR SNP Somatic 6 0.216 SQHIGH 19 43 62 0 50 50 Cosmic_Gene C C T C C TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 9311 7 150747187 150747187 55 ALL relapse snv TSNARE1 silent A371A NM_145003 10-PANVYR TSNARE1 SYNONYMOUS SNP Somatic 6 0.216 SQHIGH 19 38 57 0 45 45 C C T C C TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 203062 8 143395763 143395763 55 ALL relapse snv KDM4C splice_region K261_E7splice_region NM_015061 10-PANVYR KDM4C DONOR SNP Somatic 7 0.241 SQHIGH 8 9 17 0 19 19 Cosmic_Gene T T C T T TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 23081 9 6888069 6888069 31 ALL relapse snv NTRK2 missense F18Y NM_006180 10-PANVYR NTRK2 MISSENSE SNP Somatic -1 0.106 SQHIGH 5 12 17 0 13 13 Cosmic_Gene T T A T T TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 4915 9 87285716 87285716 14 ALL relapse snv NR4A3 missense P12S NM_006981 10-PANVYR NR4A3 MISSENSE SNP Somatic 5 0.187 SQHIGH 15 44 59 0 46 46 C C T C C TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 8013 9 102590358 102590358 41 ALL relapse snv TACC2 missense R1331Q NM_206862 10-PANVYR TACC2 INTRON,MISSENSE SNP Somatic 14 0.563 SQHIGH 17 28 45 0 44 44 Cosmic_Gene G G A G G TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 10579 10 123846007 123846007 58 ALL relapse snv B4GALNT4 missense G641R NM_178537 10-PANVYR B4GALNT4 MISSENSE SNP Somatic 7 0.241 SQHIGH 7 12 19 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 338707 11 377044 377044 32 ALL relapse snv KRAS missense G12S NM_033360 10-PANVYR KRAS MISSENSE SNP dbsnp.133:rs121913530 Somatic 3 0.154 SQHIGH 9 26 35 0 33 33 COSMIC:mut:517 Cosmic_Gene C C T C C TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 3845 12 25398285 25398285 28 ALL relapse snv DCT missense N117K NM_001922 10-PANVYR DCT MISSENSE SNP Somatic 0 0.117 SQHIGH 20 29 49 0 32 32 Cosmic_Gene G G C G G TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 1638 13 95121244 95121244 52 ALL relapse snv HS6ST3 missense D413E NM_153456 10-PANVYR HS6ST3 MISSENSE SNP Somatic 17 0.845 SQHIGH 31 29 60 0 56 56 Cosmic_Gene T T A T T TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 266722 13 97485275 97485275 111 ALL relapse snv ITPK1-AS1 EXON E3_exon NM_014216 10-PANVYR ITPK1-AS1|ITPK1 UTR|INTRON SNP Somatic -10 0.050 SQHIGH 23 22 45 0 38 38 A A C A A TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 319085|3705 14 93534367 93534367 76 ALL relapse snv C14orf180 nonsense C111* NM_001008404 10-PANVYR C14orf180 NONSENSE SNP Somatic -9 0.054 SQHIGH 18 29 47 0 39 39 C C A C C TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 400258 14 105054970 105054970 55 ALL relapse snv CACNA1G missense V1762M NM_018896 10-PANVYR CACNA1G MISSENSE SNP Somatic PFAM:PF00520:Ion_trans PFAM:PF08016:PKD_channel 9 0.299 SQHIGH 24 25 49 0 49 49 Cosmic_Gene G G A G G TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 8913 17 48695466 48695466 89 ALL relapse snv MTMR4 missense V814I NM_004687 10-PANVYR MTMR4 MISSENSE SNP dbsnp.134:rs141120541 Somatic 9 0.299 SQHIGH 22 28 50 0 52 52 Cosmic_Gene C C T C C TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 9110 17 56573063 56573063 81 ALL relapse snv CABIN1 missense C589Y NM_012295 10-PANVYR CABIN1 MISSENSE SNP Somatic 5 0.187 SQHIGH 17 40 57 1 50 51 Cosmic_Gene G G A G G TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 23523 22 24459491 24459491 43 ALL relapse complex GYLTL1B proteinDel G227_V229>PP NM_152312 10-PANVYR GYLTL1B DELETE+ Sub Somatic -1 0.530 SQHIGH 14 28 42 0 53 53 Cosmic_Gene CGGTCTTGT CGGTCTTGT CCCCCC CGGTCTTGT CGGTCTTGT TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 120071 11 45946349 45946357 56 ALL relapse mnv GYLTL1B missense E230_N231>GD NM_152312 10-PANVYR GYLTL1B MISSENSE Sub Somatic 5 0.988 SQHIGH 16 23 39 0 47 47 Cosmic_Gene AGA AGA GGG AGA AGA TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 120071 11 45946360 45946362 64 ALL diagnosis snv INSRR silent G173G NM_014215 10-PANWFL NTRK1|INSRR INTRON|SYNONYMOUS SNP dbsnp.134:rs150662487 Somatic PFAM:PF00757:Furin-like 15 0.626 SQHIGH 32 11 43 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 4914|3645 1 156823662 156823662 114 ALL diagnosis snv SLC3A1 missense P213L NM_000341 10-PANWFL SLC3A1 MISSENSE SNP Somatic PFAM:PF00128:Alpha-amylase 16 0.700 SQHIGH 22 25 47 1 55 56 C C T C C TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 6519 2 44508553 44508553 78 ALL diagnosis snv GLS missense R570Q NM_014905 10-PANWFL GLS MISSENSE SNP Somatic 18 0.869 SQHIGH 15 21 36 0 50 50 Cosmic_Gene G G A G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 2744 2 191818349 191818349 66 ALL diagnosis snv LPHN3 missense R1277H NM_015236 10-PANWFL LPHN3 MISSENSE SNP Somatic PFAM:PF02354:Latrophilin 14 0.545 SQHIGH 19 23 42 1 50 51 Cosmic_Gene G G A G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 23284 4 62936046 62936046 67 ALL diagnosis snv SPRY1 silent S12S NM_199327 10-PANWFL SPRY1 SYNONYMOUS SNP Somatic 4 0.161 SQHIGH 8 27 35 0 35 35 Cosmic_Gene G G A G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 10252 4 124322782 124322782 26 ALL diagnosis snv EYS missense R2706Q NM_001292009 10-PANWFL EYS INTRON SNP Somatic 12 0.423 SQHIGH 10 21 31 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 346007 6 64451823 64451823 35 ALL diagnosis snv THEMIS missense N127K NM_001164685 10-PANWFL THEMIS MISSENSE SNP dbsnp.134:rs140613393 Somatic PFAM:PF12736:CABIT 17 0.819 SQHIGH 18 23 41 0 41 41 Cosmic_Gene G G T G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 387357 6 128150949 128150949 65 ALL diagnosis snv VWDE silent G86G NM_001135924 10-PANWFL VWDE SYNONYMOUS SNP Somatic 19 0.945 SQHIGH 11 17 28 0 42 42 T T C T T TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 221806 7 12428970 12428970 50 ALL diagnosis snv POLR3A missense H483R NM_007055 10-PANWFL POLR3A MISSENSE SNP Somatic PFAM:PF00623:RNA_pol_Rpb1_2 7 0.246 SQHIGH 12 36 48 0 49 49 T T C T T TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 11128 10 79773532 79773532 40 ALL diagnosis snv PELI3 missense D84E NM_145065 10-PANWFL PELI3 MISSENSE SNP Somatic PFAM:PF04710:Pellino 16 0.700 SQHIGH 15 15 30 0 29 29 Cosmic_Gene C C G C C TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 246330 11 66238740 66238740 54 ALL diagnosis snv KRAS missense G12D NM_033360 10-PANWFL KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 9 0.301 SQHIGH 13 25 38 0 34 34 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 3845 12 25398284 25398284 41 ALL diagnosis snv KIAA0430 missense A325V NM_014647 10-PANWFL KIAA0430 MISSENSE SNP Somatic 16 0.700 SQHIGH 19 21 40 0 45 45 G G A G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 9665 16 15728646 15728646 75 ALL diagnosis snv CPNE7 missense V180M NM_014427 10-PANWFL CPNE7 INTRON,MISSENSE SNP dbsnp.134:rs139566794 Somatic -9 0.046 SQHIGH 6 9 15 0 18 18 G G A G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 27132 16 89649892 89649892 23 ALL diagnosis snv ZNF772 nonsense Q313* NM_001024596 10-PANWFL ZNF772 NONSENSE SNP Somatic -2 0.085 SQHIGH 5 34 39 0 50 50 G G A G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 400720 19 57985175 57985175 19 ALL diagnosis snv ZNF772 missense H312D NM_001024596 10-PANWFL ZNF772 MISSENSE SNP Somatic -2 0.085 SQHIGH 5 27 32 1 55 56 G G C G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 400720 19 57985178 57985178 16 ALL diagnosis snv ARHGAP8 missense V66I NM_001017526 10-PANWFL PRR5-ARHGAP8|ARHGAP8 MISSENSE|MISSENSE SNP Somatic 17 0.819 SQHIGH 30 35 65 0 60 60 Cosmic_Gene G G A G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 553158|23779 22 45204215 45204215 104 ALL diagnosis snv SHANK3 missense Q431P NM_033517 10-PANWFL SHANK3 MISSENSE SNP Somatic 5 0.181 SQHIGH 17 38 55 0 36 36 Cosmic_Gene A A C A A TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 85358 22 51133464 51133464 42 ALL diagnosis snv ARAF missense R479L NM_001654 10-PANWFL ARAF MISSENSE SNP dbsnp.120:rs11551158 Somatic PFAM:PF03109:ABC1 -5 0.064 SQHIGH 8 53 61 0 43 43 Cosmic_Gene G G T G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 369 X 47429308 47429308 19 ALL relapse snv NRAS missense G12D NM_002524 10-PANWHJ NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 0 0.127 SQHIGH 10 38 48 1 37 38 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 4893 1 115258747 115258747 20 ALL relapse snv NID1 silent A932A NM_002508 10-PANWHJ NID1 SYNONYMOUS SNP Somatic 4 0.183 SQHIGH 9 33 42 1 41 42 Cosmic_Gene C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 4811 1 236154318 236154318 21 ALL relapse snv LOC643072 EXON E1_exon NM_013450 10-PANWHJ BAZ2B|LOC643072 UTR5|UTR SNP Somatic -2 0.105 SQHIGH 4 21 25 1 46 47 Cosmic_Gene C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 29994|643072 2 160472940 160472940 13 ALL relapse snv SCN9A silent T1590T NM_002977 10-PANWHJ SCN9A SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans -3 0.096 SQHIGH 7 34 41 0 41 41 Cosmic_Gene C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 6335 2 167056346 167056346 22 ALL relapse snv COL5A2 silent P764P NM_000393 10-PANWHJ COL5A2 SYNONYMOUS SNP Somatic 2 0.152 SQHIGH 7 20 27 0 23 23 Cosmic_Gene C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 1290 2 189922091 189922091 21 ALL relapse snv PPARG missense H155D NM_138712 10-PANWHJ PPARG MISSENSE SNP Somatic -1 0.115 SQHIGH 8 34 42 0 46 46 Cosmic_Gene C C G C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 5468 3 12434179 12434179 27 ALL relapse snv GAP43 silent S36S NM_001130064 10-PANWHJ GAP43 SYNONYMOUS,INTRON SNP Somatic 0 0.127 SQHIGH 4 32 36 0 44 44 Cosmic_Gene A A T A A TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 2596 3 115382733 115382733 14 ALL relapse snv DCLK2 silent S710S NM_001040260 10-PANWHJ DCLK2 SYNONYMOUS,UTR SNP Somatic -3 0.096 SQHIGH 7 22 29 0 25 25 Cosmic_Gene C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 166614 4 151177228 151177228 21 ALL relapse snv PLRG1 missense R308Q NM_002669 10-PANWHJ PLRG1 MISSENSE SNP Somatic -4 0.089 SQHIGH 9 36 45 0 43 43 C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 5356 4 155461762 155461762 28 ALL relapse snv GCK missense Q38R NM_000162 10-PANWHJ GCK MISSENSE SNP Somatic PFAM:PF00349:Hexokinase_1 4 0.183 SQHIGH 7 20 27 0 30 30 Cosmic_Gene T T C T T TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 2645 7 44192995 44192995 25 ALL relapse snv KCTD9 splice G124_E5splice NM_017634 10-PANWHJ KCTD9 MISSENSE SNP Somatic PFAM:PF00651:BTB 16 0.721 SQHIGH 10 15 25 0 36 36 C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 54793 8 25297122 25297122 44 ALL relapse snv MMP1 silent A335A NM_002421 10-PANWHJ LOC100288077|MMP1 INTRON|SYNONYMOUS SNP Somatic 6 0.230 SQHIGH 7 23 30 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 100288077|4312 11 102663364 102663364 26 ALL relapse snv KRAS missense G13D NM_033360 10-PANWHJ KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic -2 0.105 SQHIGH 5 27 32 0 29 29 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 3845 12 25398281 25398281 15 ALL relapse snv PLBD2 silent A83A NM_173542 10-PANWHJ PLBD2 SYNONYMOUS SNP Somatic PFAM:PF04916:Phospholip_B -5 0.082 SQHIGH 8 26 34 0 27 27 C C T C C TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 196463 12 113796654 113796654 22 ALL relapse snv CCL15 missense T73M NM_032965 10-PANWHJ CCL15|CCL14-CCL15 MISSENSE|UTR SNP Somatic 1 0.138 SQHIGH 13 39 52 0 49 49 Cosmic_Gene G G A G G TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 6359|348249 17 34325346 34325346 41 ALL relapse snv PHB silent V99V NM_002634 10-PANWHJ PHB SYNONYMOUS SNP Somatic -1 0.115 SQHIGH 10 33 43 0 65 65 G G C G G TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 5245 17 47486789 47486789 43 ALL relapse snv AATK silent D877D NM_001080395 10-PANWHJ AATK|MIR3065 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -9 0.061 SQHIGH 5 23 28 0 28 28 Cosmic_Gene G G A G G TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 9625|100422915 17 79095105 79095105 16 ALL relapse snv MBP missense P65L NM_001025081 10-PANWHJ MBP INTRON,MISSENSE SNP dbsnp.134:rs149668522 Somatic PFAM:PF01669:Myelin_MBP -1 0.115 SQHIGH 13 42 55 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 4155 18 74721866 74721866 28 ALL relapse snv MUC16 missense T5789M NM_024690 10-PANWHJ MUC16 MISSENSE SNP Somatic -7 0.071 SQHIGH 8 61 69 0 58 58 Cosmic_Gene G G A G G TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 94025 19 9070080 9070080 22 ALL relapse mnv PDIA2 missense P69H NM_006849 10-PANWHJ PDIA2 MISSENSE Sub Somatic -9 0.279 SQHIGH 9 22 31 0 33 33 Cosmic_Gene CG CG AT CG CG TARGET-10-PANWHJ-04A-01D TARGET-10-PANWHJ-10A-01D 64714 16 334393 334394 31 ALL diagnosis snv NRAS missense G12D NM_002524 10-PANWHJ NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 16 0.723 SQHIGH 28 21 49 1 37 38 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 4893 1 115258747 115258747 78 ALL diagnosis snv NID1 silent A932A NM_002508 10-PANWHJ NID1 SYNONYMOUS SNP Somatic 8 0.301 SQHIGH 16 18 34 1 41 42 Cosmic_Gene C C T C C TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 4811 1 236154318 236154318 56 ALL diagnosis snv RNPEPL1 silent P683P NM_018226 10-PANWHJ RNPEPL1 SYNONYMOUS SNP Somatic 2 0.156 SQHIGH 14 15 29 0 16 16 Cosmic_Gene C C T C C TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 57140 2 241517180 241517180 33 ALL diagnosis snv BOD1L1 missense G1973E NM_148894 10-PANWHJ BOD1L1 MISSENSE SNP Somatic -4 0.090 SQHIGH 9 63 72 0 54 54 Cosmic_Gene C C T C C TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 259282 4 13602606 13602606 23 ALL diagnosis snv PLRG1 missense R308Q NM_002669 10-PANWHJ PLRG1 MISSENSE SNP Somatic 6 0.246 SQHIGH 18 32 50 0 43 43 C C T C C TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 5356 4 155461762 155461762 56 ALL diagnosis snv GCK missense Q38R NM_000162 10-PANWHJ GCK MISSENSE SNP Somatic PFAM:PF00349:Hexokinase_1 10 0.365 SQHIGH 14 19 33 0 30 30 Cosmic_Gene T T C T T TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 2645 7 44192995 44192995 47 ALL diagnosis snv KCTD9 splice G124_E5splice NM_017634 10-PANWHJ KCTD9 MISSENSE SNP Somatic PFAM:PF00651:BTB 14 0.573 SQHIGH 9 4 13 0 36 36 C C T C C TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 54793 8 25297122 25297122 65 ALL diagnosis snv TRPA1 missense E23G NM_007332 10-PANWHJ TRPA1 MISSENSE SNP Somatic -32 0.003 9 38 47 1 35 36 Cosmic_Gene T T C T T TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 8989 8 72987577 72987577 17 ALL diagnosis snv MMP1 silent A335A NM_002421 10-PANWHJ LOC100288077|MMP1 INTRON|SYNONYMOUS SNP Somatic 9 0.330 SQHIGH 11 16 27 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 100288077|4312 11 102663364 102663364 48 ALL diagnosis snv KRAS missense G13D NM_033360 10-PANWHJ KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic 8 0.301 SQHIGH 8 19 27 0 29 29 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 3845 12 25398281 25398281 28 ALL diagnosis snv CREBBP splice T1260_E20splice NM_004380 10-PANWHJ CREBBP DISRUPT SNP Somatic 15 0.654 SQHIGH 20 20 40 1 39 40 Cosmic_Gene C C T C C TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 1387 16 3801726 3801726 63 ALL diagnosis snv CES1 splice_region M87_E2splice_region NM_001025195 10-PANWHJ CES1 INTRON SNP Somatic 7 0.274 SQHIGH 22 48 70 1 89 90 G G A G G TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 1066 16 55862670 55862670 77 ALL diagnosis snv PHB silent V99V NM_002634 10-PANWHJ PHB SYNONYMOUS SNP Somatic 15 0.654 SQHIGH 13 24 37 0 65 65 G G C G G TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 5245 17 47486789 47486789 64 ALL diagnosis snv AATK silent D877D NM_001080395 10-PANWHJ AATK|MIR3065 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 10 0.365 SQHIGH 8 10 18 0 28 28 Cosmic_Gene G G A G G TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 9625|100422915 17 79095105 79095105 38 ALL diagnosis snv NOTCH3 missense L1498M NM_000435 10-PANWHJ NOTCH3 MISSENSE SNP Somatic PFAM:PF00066:Notch -1 0.117 SQHIGH 5 21 26 2 47 49 Cosmic_Gene G G T G G TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 4854 19 15285123 15285123 13 ALL diagnosis snv KCNC3 missense R429W NM_004977 10-PANWHJ KCNC3 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 20 0.996 SQHIGH 22 15 37 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 3748 19 50826925 50826925 86 ALL diagnosis snv SH3RF3 missense A439V NM_001099289 10-PANWHW SH3RF3 MISSENSE SNP Somatic 10 0.272 SQHIGH 15 27 42 0 48 48 Cosmic_Gene C C T C C TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 344558 2 110036011 110036011 57 ALL diagnosis snv RASA2 splice D531_E16splice NM_006506 10-PANWHW RASA2 DISRUPT SNP Somatic 3 0.126 SQHIGH 5 16 21 0 28 28 Cosmic_Gene G G A G G TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 5922 3 141299209 141299209 20 ALL diagnosis snv POM121L2 silent T20T NM_033482 10-PANWHW POM121L2 SYNONYMOUS SNP Somatic 2 0.114 SQHIGH 6 20 26 0 33 33 G G T G G TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 94026 6 27279890 27279890 23 ALL diagnosis snv CSNK2B missense S3R NM_001320 10-PANWHW CSNK2B|LY6G5B|GPANK1 MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 6 0.172 SQHIGH 32 43 75 0 49 49 Cosmic_Gene C C G C C TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 1460|58496|7918 6 31634617 31634617 85 ALL diagnosis snv UNC93A silent S34S NM_018974 10-PANWHW UNC93A SYNONYMOUS SNP Somatic 12 0.359 SQHIGH 13 24 37 0 46 46 C C T C C TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 54346 6 167708019 167708019 52 ALL diagnosis snv STYXL1 missense I126V NM_016086 10-PANWHW STYXL1 MISSENSE SNP Somatic PFAM:PF00581:Rhodanese -9 0.044 SQHIGH 4 28 32 0 43 43 T T C T T TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 51657 7 75643137 75643137 15 ALL diagnosis snv ZBTB5 missense R377Q NM_014872 10-PANWHW ZBTB5 MISSENSE SNP Somatic 13 0.416 SQHIGH 20 23 43 0 52 52 Cosmic_Gene C C T C C TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 9925 9 37441419 37441419 83 ALL diagnosis snv DAPK1 silent G411G NM_004938 10-PANWHW DAPK1 SYNONYMOUS SNP Somatic PFAM:PF12796:Ank_2 0 0.094 SQHIGH 11 24 35 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 1612 9 90262222 90262222 33 ALL diagnosis snv FAM78A missense S11F NM_033387 10-PANWHW FAM78A MISSENSE SNP Somatic -8 0.048 SQHIGH 10 17 27 1 21 22 Cosmic_Gene G G A G G TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 286336 9 134151535 134151535 22 ALL diagnosis snv FLT3 missense Q580P NM_004119 10-PANWHW FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 6 0.172 SQHIGH 15 36 51 0 46 46 Cosmic_Gene T T G T T TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 2322 13 28608317 28608317 47 ALL diagnosis snv DAAM1 missense H516R NM_014992 10-PANWHW DAAM1 MISSENSE SNP Somatic -7 0.052 SQHIGH 6 17 23 0 13 13 Cosmic_Gene A A G A A TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 23002 14 59797393 59797393 13 ALL diagnosis snv SLIRP missense A2V NM_031210 10-PANWHW ALKBH1|SLIRP TSS-UPSTREAM|MISSENSE SNP Somatic -2 0.078 SQHIGH 7 37 44 0 22 22 Cosmic_Gene C C T C C TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 8846|81892 14 78174459 78174459 13 ALL diagnosis snv USP7 missense A513V NM_003470 10-PANWHW USP7 MISSENSE SNP Somatic 6 0.172 SQHIGH 21 25 46 0 39 39 Cosmic_Gene G G A G G TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 7874 16 8999079 8999079 68 ALL diagnosis snv CNTNAP4 missense A829T NM_138994 10-PANWHW CNTNAP4 MISSENSE SNP Somatic 16 0.662 SQHIGH 21 22 43 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 85445 16 76556103 76556103 75 ALL diagnosis snv ANKRD11 missense V454A NM_013275 10-PANWHW ANKRD11 MISSENSE SNP Somatic -4 0.065 SQHIGH 8 44 52 2 57 59 Cosmic_Gene A A G A A TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 29123 16 89351589 89351589 15 ALL diagnosis snv MYL12A silent L125L NM_006471 10-PANWHW MYL12A|LOC100505577 SYNONYMOUS|UTR SNP Somatic -3 0.070 SQHIGH 14 32 46 1 26 27 G G T G G TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 10627|100505577 18 3255775 3255775 23 ALL diagnosis snv MYL12B missense L126P NM_001144944 10-PANWHW MYL12B MISSENSE SNP Somatic -10 0.041 SQHIGH 5 12 17 0 26 26 T T C T T TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 103910 18 3277793 3277793 22 ALL diagnosis snv KDM4B missense P467L NM_015015 10-PANWHW KDM4B MISSENSE SNP Somatic -7 0.052 SQHIGH 7 39 46 0 20 20 Cosmic_Gene C C T C C TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 23030 19 5131171 5131171 12 ALL diagnosis snv FAM47B missense R388W NM_152631 10-PANWHW FAM47B MISSENSE SNP dbsnp.134:rs143952389 Somatic 17 0.802 SQHIGH 22 22 44 0 27 27 Cosmic_Gene C C T C C TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 170062 X 34962110 34962110 58 ALL diagnosis snv WHSC1 missense E1099K NM_133330 10-PANWVW WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET -8 0.043 SQHIGH 8 35 43 0 38 38 Cosmic_Gene G G A G G TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 7468 4 1962801 1962801 23 ALL diagnosis snv COX7A2 splice L38_E1splice NM_001865 10-PANWVW COX7A2 DISRUPT SNP Somatic -6 0.051 SQHIGH 4 26 30 0 40 40 C C G C C TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 1347 6 75953432 75953432 15 ALL diagnosis snv PTPRK nonsense Q860* NM_001135648 10-PANWVW PTPRK NONSENSE SNP Somatic 6 0.162 SQHIGH 14 38 52 0 46 46 Cosmic_Gene G G A G G TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 5796 6 128319966 128319966 43 ALL diagnosis snv DGKB nonsense R248* NM_004080 10-PANWVW DGKB NONSENSE SNP Somatic 18 0.853 SQHIGH 14 20 34 1 41 42 Cosmic_Gene G G A G G TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 1607 7 14724957 14724957 47 ALL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 10-PANWVW KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 2 0.106 SQHIGH 11 40 51 0 46 46 Cosmic_Gene G G C G G TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 3784|10984 11 2669203 2669203 33 ALL diagnosis snv TENM4 silent N2078N NM_001098816 10-PANWVW TENM4 SYNONYMOUS SNP dbsnp.134:rs139879711 Somatic 13 0.400 SQHIGH 24 30 54 0 57 57 Cosmic_Gene G G A G G TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 26011 11 78381156 78381156 90 ALL diagnosis snv CLIP1 missense R1401Q NM_002956 10-PANWVW CLIP1 MISSENSE SNP Somatic 13 0.400 SQHIGH 18 13 31 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 6249 12 122757504 122757504 75 ALL diagnosis snv LOC100862671 missense E66G NM_001256829 10-PANWVW PHKG2 TSS-UPSTREAM SNP Somatic -2 0.071 SQHIGH 5 39 44 0 37 37 Cosmic_Gene A A G A A TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 5261 16 30755134 30755134 14 ALL diagnosis snv FBXL20 missense A350S NM_032875 10-PANWVW FBXL20 MISSENSE SNP Somatic 14 0.472 SQHIGH 19 21 40 1 29 30 Cosmic_Gene C C A C C TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 84961 17 37420583 37420583 46 ALL diagnosis snv MAST1 silent P1463P NM_014975 10-PANWVW MAST1 SYNONYMOUS SNP Somatic 10 0.259 SQHIGH 10 20 30 0 26 26 Cosmic_Gene C C T C C TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 22983 19 12985360 12985360 31 ALL diagnosis snv AXL missense V169M NM_021913 10-PANWVW AXL MISSENSE SNP Somatic -2 0.071 SQHIGH 9 46 55 0 43 43 Cosmic_Gene G G A G G TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 558 19 41727880 41727880 24 ALL diagnosis snv TTC34 splice_region G174_E3splice_region NM_001242672 10-PANWYH TTC34 DONOR SNP Somatic 15 0.653 SQHIGH 22 25 47 0 56 56 C C T C C TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 100287898 1 2702380 2702380 90 ALL diagnosis snv SLC7A11 missense S393N NM_014331 10-PANWYH SLC7A11 MISSENSE SNP Somatic PFAM:PF01490:Aa_trans 16 0.722 SQHIGH 12 12 24 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 23657 4 139101883 139101883 56 ALL diagnosis snv CUL7 missense S1437N NM_001168370 10-PANWYH CUL7 MISSENSE SNP Somatic 9 0.310 SQHIGH 21 29 50 0 50 50 Cosmic_Gene C C T C C TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 9820 6 43008130 43008130 75 ALL diagnosis snv TTBK1 nonsense Q1195* NM_032538 10-PANWYH TTBK1 NONSENSE SNP Somatic -7 0.074 SQHIGH 7 4 11 0 14 14 Cosmic_Gene C C T C C TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 84630 6 43252731 43252731 32 ALL diagnosis snv CNTNAP2 silent G709G NM_014141 10-PANWYH CNTNAP2 SYNONYMOUS SNP Somatic 2 0.155 SQHIGH 20 23 43 1 27 28 Cosmic_Gene C C A C C TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 26047 7 147600685 147600685 43 ALL diagnosis snv GPR158 missense V1029I NM_020752 10-PANWYH GPR158 MISSENSE SNP Somatic 17 0.835 SQHIGH 32 35 67 0 62 62 Cosmic_Gene G G A G G TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 57512 10 25887640 25887640 112 ALL diagnosis snv LZTS2 silent G244G NM_032429 10-PANWYH LZTS2 SYNONYMOUS SNP Somatic -1 0.119 SQHIGH 16 20 36 0 55 55 Cosmic_Gene C C T C C TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 84445 10 102763587 102763587 76 ALL diagnosis snv CREBBP missense R1446C NM_004380 10-PANWYH CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 8 0.279 SQHIGH 15 18 33 1 47 48 COSMIC:mut:88749 Cosmic_Gene G G A G G TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 1387 16 3788618 3788618 58 ALL diagnosis snv MYO15A missense R859H NM_016239 10-PANWYH MYO15A MISSENSE SNP Somatic -1 0.119 SQHIGH 7 8 15 0 19 19 Cosmic_Gene G G A G G TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 51168 17 18024690 18024690 29 ALL diagnosis snv FSCN2 missense S438R NM_012418 10-PANWYH FSCN2 MISSENSE SNP Somatic 12 0.435 SQHIGH 8 17 25 0 25 25 C C A C C TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 25794 17 79503941 79503941 27 ALL diagnosis snv L3MBTL4 missense R23C NM_173464 10-PANWYH L3MBTL4 MISSENSE SNP Somatic 16 0.722 SQHIGH 13 14 27 0 27 27 Cosmic_Gene G G A G G TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 91133 18 6311558 6311558 47 ALL diagnosis snv C3 missense A1024T NM_000064 10-PANWYH C3 MISSENSE SNP Somatic 17 0.835 SQHIGH 26 23 49 1 50 51 Cosmic_Gene C C T C C TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 718 19 6694526 6694526 88 ALL diagnosis snv PRR5 missense R236C NM_181333 10-PANWYH PRR5-ARHGAP8|PRR5 INTRON|MISSENSE SNP Somatic -1 0.119 SQHIGH 14 22 36 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 553158|55615 22 45132666 45132666 48 ALL diagnosis snv CSMD2 missense R2921Q NM_052896 10-PANWYK CSMD2 MISSENSE SNP dbsnp.134:rs142649420 Somatic 15 0.647 SQHIGH 24 21 45 1 34 35 Cosmic_Gene C C T C C TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 114784 1 34008403 34008403 64 ALL diagnosis snv DYNC2LI1 silent R207R NM_016008 10-PANWYK DYNC2LI1 SYNONYMOUS SNP Somatic PFAM:PF02263:GBP PFAM:PF05783:DLIC -8 0.050 SQHIGH 8 35 43 0 35 35 Cosmic_Gene A A G A A TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 51626 2 44023901 44023901 22 ALL diagnosis snv SHROOM3 silent P1013P NM_020859 10-PANWYK SHROOM3 SYNONYMOUS SNP Somatic PFAM:PF08688:ASD1 14 0.554 SQHIGH 11 13 24 0 27 27 Cosmic_Gene C C T C C TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 57619 4 77662365 77662365 43 ALL diagnosis snv KLHL2 missense I10F NM_001161521 10-PANWYK KLHL2 INTRON,UTR5,MISSENSE SNP Somatic -3 0.078 SQHIGH 11 69 80 0 48 48 A A T A A TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 11275 4 166131322 166131322 24 ALL diagnosis snv RCAN2 missense R55C NM_005822 10-PANWYK RCAN2 MISSENSE SNP Somatic PFAM:PF04847:Calcipressin 7 0.256 SQHIGH 12 34 46 0 39 39 G G A G G TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 10231 6 46216558 46216558 35 ALL diagnosis snv NPC1L1 missense A252V NM_013389 10-PANWYK NPC1L1 MISSENSE SNP Somatic 13 0.486 SQHIGH 20 16 36 0 47 47 Cosmic_Gene G G A G G TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 29881 7 44579241 44579241 90 ALL diagnosis snv GPR158 nonsense R417* NM_020752 10-PANWYK GPR158 NONSENSE SNP Somatic -9 0.046 SQHIGH 20 31 51 0 40 40 Cosmic_Gene C C T C C TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 57512 10 25701316 25701316 59 ALL diagnosis snv ITGA7 missense A93T NM_001144996 10-PANWYK ITGA7 INTRON,MISSENSE SNP Somatic 0 0.108 SQHIGH 14 12 26 0 21 21 Cosmic_Gene C C T C C TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 3679 12 56096892 56096892 45 ALL diagnosis snv PTPN11 missense E76V NM_002834 10-PANWYK PTPN11 MISSENSE SNP dbsnp.133:rs121918465 Somatic 7 0.256 SQHIGH 20 12 32 0 33 33 COSMIC:mut:13025 Cosmic_Gene A A T A A TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 5781 12 112888211 112888211 81 ALL diagnosis snv ABCA8 missense R626H NM_007168 10-PANWYK ABCA8 MISSENSE SNP Somatic 6 0.231 SQHIGH 17 31 48 1 31 32 Cosmic_Gene C C T C C TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 10351 17 66914238 66914238 34 ALL diagnosis snv NPC1 missense S1123C NM_000271 10-PANWYK NPC1 MISSENSE SNP Somatic -5 0.065 SQHIGH 5 52 57 0 48 48 Cosmic_Gene G G C G G TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 4864 18 21115542 21115542 14 ALL diagnosis snv TJP3 silent S650S NM_001267560 10-PANWYK TJP3 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 16 0.726 SQHIGH 23 22 45 0 49 49 Cosmic_Gene C C A C C TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 27134 19 3746019 3746019 91 ALL diagnosis snv MAST3 silent S912S NM_015016 10-PANWYK MAST3 SYNONYMOUS SNP Somatic -2 0.088 SQHIGH 15 14 29 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 23031 19 18255823 18255823 56 ALL diagnosis snv THOC2 missense T1321M NM_001081550 10-PANWYK THOC2 MISSENSE SNP Somatic 7 0.256 SQHIGH 11 29 40 0 48 48 Cosmic_Gene G G A G G TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 57187 X 122755262 122755262 41 ALL diagnosis mnv NME7 missense P178K NM_013330 10-PANWYK NME7 MISSENSE Sub Somatic -7 0.304 SQHIGH 14 29 43 1 34 35 Cosmic_Gene AGG AGG TTT AGG AGG TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 29922 1 169267908 169267910 32 ALL diagnosis mnv AIM1 missense F1040_S1041>FL NM_001624 10-PANWYK AIM1 MISSENSE Sub Somatic PFAM:PF00030:Crystall -10 0.255 SQHIGH 26 121 147 0 51 51 Cosmic_Gene CAG CAG TCT CAG CAG TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 202 6 106973193 106973195 36 ALL diagnosis mnv TSC22D1 missense Q594F NM_183422 10-PANWYK LOC641467|TSC22D1 TSS-UPSTREAM|MISSENSE Sub Somatic -7 0.304 SQHIGH 5 5 10 0 18 18 CTG CTG AAA CTG CTG TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 641467|8848 13 45148429 45148431 26 ALL diagnosis snv MACF1 silent R5087R NM_012090 10-PANXDB MACF1 SYNONYMOUS SNP Somatic 6 0.188 SQHIGH 16 40 56 1 36 37 Cosmic_Gene A A G A A TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 23499 1 39926381 39926381 30 ALL diagnosis snv PRPF38A silent S32S NM_032864 10-PANXDB ORC1|PRPF38A TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF03371:PRP38 -10 0.046 SQHIGH 10 49 59 0 46 46 Cosmic_Gene C C T C C TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 4998|84950 1 52870517 52870517 27 ALL diagnosis snv RABGGTB missense A14T NM_004582 10-PANXDB SNORD45A|RABGGTB|SNORD45B TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic -6 0.062 SQHIGH 7 36 43 0 47 47 Cosmic_Gene G G A G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 26805|5876|26804 1 76253218 76253218 24 ALL diagnosis snv TET3 nonsense Q115* NM_001287491 10-PANXDB SNP Somatic -6 0.062 SQHIGH 18 49 67 0 34 34 C C T C C TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 2 74230276 74230276 36 ALL diagnosis snv RAB17 missense A204V NM_022449 10-PANXDB RAB17 MISSENSE,UTR SNP Somatic 6 0.188 SQHIGH 22 30 52 1 57 58 G G A G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 64284 2 238483690 238483690 73 ALL diagnosis snv ABI3BP missense P553Q NM_015429 10-PANXDB ABI3BP MISSENSE SNP Somatic -2 0.085 SQHIGH 6 19 25 0 32 32 Cosmic_Gene G G T G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 25890 3 100527019 100527019 23 ALL diagnosis snv PLD1 silent G834G NM_002662 10-PANXDB PLD1 SYNONYMOUS SNP Somatic 16 0.680 SQHIGH 27 25 52 0 44 44 Cosmic_Gene G G A G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 5337 3 171362741 171362741 90 ALL diagnosis snv KLHL2 missense I10F NM_001161521 10-PANXDB KLHL2 INTRON,UTR5,MISSENSE SNP Somatic 1 0.112 SQHIGH 11 63 74 0 55 55 A A T A A TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 11275 4 166131322 166131322 28 ALL diagnosis snv ARL14EPL silent P151P NM_001195581 10-PANXDB ARL14EPL SYNONYMOUS SNP Somatic 14 0.516 SQHIGH 19 22 41 0 57 57 T T C T T TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 644100 5 115394638 115394638 85 ALL diagnosis snv PCDH12 silent P978P NM_016580 10-PANXDB PCDH12 SYNONYMOUS SNP Somatic -6 0.062 SQHIGH 13 49 62 0 55 55 Cosmic_Gene T T G T T TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 51294 5 141331102 141331102 39 ALL diagnosis snv ZNF346 missense E116K NM_012279 10-PANXDB ZNF346 MISSENSE SNP Somatic -32 0.004 5 39 44 0 55 55 G G A G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 23567 5 176468845 176468845 18 ALL diagnosis snv ZNF804B missense Q362P NM_181646 10-PANXDB ZNF804B MISSENSE SNP Somatic 13 0.444 SQHIGH 17 27 44 0 35 35 Cosmic_Gene A A C A A TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 219578 7 88963381 88963381 51 ALL diagnosis snv ATP6V0D2 missense G245S NM_152565 10-PANXDB ATP6V0D2 MISSENSE SNP Somatic PFAM:PF01992:vATP-synt_AC39 18 0.865 SQHIGH 18 15 33 0 31 31 G G A G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 245972 8 87162434 87162434 65 ALL diagnosis snv JAK2 missense T875N NM_004972 10-PANXDB JAK2 MISSENSE SNP Somatic -22 0.014 4 26 30 0 31 31 Cosmic_Gene C C A C C TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 3717 9 5089726 5089726 13 ALL diagnosis snv PCSK5 silent T1582T NM_001190482 10-PANXDB PCSK5 SYNONYMOUS SNP Somatic 1 0.112 SQHIGH 23 19 42 1 45 46 Cosmic_Gene A A G A A TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 5125 9 78953224 78953224 81 ALL diagnosis snv FAM170B missense Q279E NM_001164484 10-PANXDB LOC100506733|FAM170B INTRON|MISSENSE SNP Somatic 4 0.150 SQHIGH 5 10 15 0 23 23 G G C G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 100506733|170370 10 50339675 50339675 22 ALL diagnosis snv SPATA19 missense E110K NM_174927 10-PANXDB SPATA19 MISSENSE SNP Somatic 16 0.680 SQHIGH 32 29 61 0 72 72 C C T C C TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 219938 11 133714172 133714172 134 ALL diagnosis snv CD163 splice E1115_E16splice NM_004244 10-PANXDB CD163 ACCEPTOR,INTRON SNP Somatic 17 0.809 SQHIGH 15 13 28 0 28 28 Cosmic_Gene G G C G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 9332 12 7632595 7632595 56 ALL diagnosis snv DGKH missense F869L NM_152910 10-PANXDB DGKH MISSENSE SNP Somatic PFAM:PF00609:DAGK_acc -5 0.066 SQHIGH 6 21 27 0 24 24 Cosmic_Gene T T A T T TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 160851 13 42783100 42783100 18 ALL diagnosis snv MDGA2 missense E113G NM_001113498 10-PANXDB MDGA2 UTR5,MISSENSE SNP Somatic PFAM:PF00047:ig 15 0.596 SQHIGH 14 16 30 0 25 25 Cosmic_Gene T T C T T TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 161357 14 47687274 47687274 45 ALL diagnosis snv EXOC5 missense A478S NM_006544 10-PANXDB EXOC5 MISSENSE SNP Somatic PFAM:PF07393:Sec10 6 0.188 SQHIGH 17 16 33 0 24 24 Cosmic_Gene C C A C C TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 10640 14 57686134 57686134 51 ALL diagnosis snv YLPM1 missense E776K NM_019589 10-PANXDB YLPM1 MISSENSE SNP Somatic -6 0.062 SQHIGH 9 18 27 0 25 25 Cosmic_Gene G G A G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 56252 14 75264326 75264326 29 ALL diagnosis snv SPATA22 missense R254H NM_001170699 10-PANXDB SPATA22 MISSENSE SNP Somatic 18 0.865 SQHIGH 16 23 39 0 43 43 C C T C C TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 84690 17 3349807 3349807 60 ALL diagnosis snv MINK1 silent I82I NM_015716 10-PANXDB MINK1 SYNONYMOUS SNP Somatic 9 0.262 SQHIGH 17 32 49 1 69 70 Cosmic_Gene C C T C C TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 50488 17 4784492 4784492 63 ALL diagnosis snv ITGA2B missense T621I NM_000419 10-PANXDB ITGA2B MISSENSE SNP Somatic PFAM:PF08441:Integrin_alpha2 -3 0.078 SQHIGH 5 15 20 0 26 26 Cosmic_Gene G G A G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 3674 17 42457073 42457073 19 ALL diagnosis snv CLDN17 silent S171S NM_012131 10-PANXDB CLDN17 SYNONYMOUS SNP Somatic PFAM:PF00822:PMP22_Claudin 3 0.137 SQHIGH 12 10 22 1 24 25 Cosmic_Gene G G A G G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 26285 21 31538423 31538423 39 ALL diagnosis snv ZBTB21 missense E53K NM_001098402 10-PANXDB ZBTB21 MISSENSE SNP dbsnp.134:rs143202688 Somatic PFAM:PF00651:BTB -37 0.001 3 8 11 0 23 23 Cosmic_Gene C C T C C TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 49854 21 43414048 43414048 16 ALL diagnosis snv PLXNB2 missense A1020S NM_012401 10-PANXDB PLXNB2 MISSENSE SNP Somatic 12 0.386 SQHIGH 24 21 45 0 43 43 Cosmic_Gene C C A C C TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 23654 22 50720672 50720672 88 ALL diagnosis snv RYR2 silent S3825S NM_001035 10-PANXDR RYR2 SYNONYMOUS SNP Somatic 14 0.542 SQHIGH 8 16 24 0 52 52 Cosmic_Gene A A C A A TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 6262 1 237924327 237924327 44 ALL diagnosis snv TMEM42 silent P155P NM_144638 10-PANXDR TMEM42 SYNONYMOUS SNP Somatic -7 0.055 SQHIGH 6 19 25 0 31 31 A A C A A TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 131616 3 44906657 44906657 23 ALL diagnosis snv WHSC1 missense E1099K NM_133330 10-PANXDR WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET 14 0.542 SQHIGH 11 12 23 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 7468 4 1962801 1962801 54 ALL diagnosis snv GRID2 missense P499T NM_001510 10-PANXDR GRID2 MISSENSE SNP Somatic 17 0.809 SQHIGH 16 18 34 1 44 45 Cosmic_Gene C C A C C TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 2895 4 94344069 94344069 59 ALL diagnosis snv LCP2 silent I174I NM_005565 10-PANXDR LCP2 SYNONYMOUS SNP Somatic 6 0.220 SQHIGH 16 41 57 0 61 61 Cosmic_Gene G G A G G TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 3937 5 169697724 169697724 56 ALL diagnosis snv ATXN1 silent A542A NM_000332 10-PANXDR ATXN1 SYNONYMOUS SNP Somatic 10 0.334 SQHIGH 10 28 38 0 39 39 Cosmic_Gene G G A G G TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 6310 6 16326916 16326916 34 ALL diagnosis snv MAGI2 splice_region G771_E13splice_region NM_012301 10-PANXDR MAGI2 DONOR SNP Somatic 14 0.542 SQHIGH 12 21 33 0 39 39 Cosmic_Gene C C A C C TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 9863 7 77814941 77814941 46 ALL diagnosis snv OR52H1 missense N11S NM_001005289 10-PANXDR OR52H1 MISSENSE SNP Somatic 7 0.247 SQHIGH 25 50 75 0 42 42 Cosmic_Gene T T C T T TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 390067 11 5566722 5566722 56 ALL diagnosis snv OR5I1 silent C243C NM_006637 10-PANXDR OR5I1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 16 0.692 SQHIGH 23 18 41 0 33 33 Cosmic_Gene G G A G G TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 10798 11 55703148 55703148 76 ALL diagnosis snv ABCC9 missense G815R NM_005691 10-PANXDR ABCC9 MISSENSE SNP Somatic 8 0.274 SQHIGH 7 18 25 0 41 41 Cosmic_Gene C C T C C TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 10060 12 22012582 22012582 32 ALL diagnosis snv BDKRB2 missense V132M NM_000623 10-PANXDR BDKRB2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.247 SQHIGH 19 44 63 1 65 66 Cosmic_Gene G G A G G TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 624 14 96707059 96707059 55 ALL diagnosis snv CCNB2 silent P74P NM_004701 10-PANXDR CCNB2 SYNONYMOUS SNP Somatic -4 0.071 SQHIGH 4 18 22 0 43 43 T T A T T TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 9133 15 59399824 59399824 20 ALL diagnosis snv CNBD2 missense R494W NM_080834 10-PANXDR C20orf152 UTR3,MISSENSE SNP Somatic 17 0.809 SQHIGH 14 14 28 1 37 38 C C T C C TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 140894 20 34618331 34618331 52 ALL diagnosis mnv APCDD1 missense H260L NM_153000 10-PANXDR APCDD1 MISSENSE Sub Somatic -4 0.382 SQHIGH 17 44 61 0 54 54 AC AC TA AC AC TARGET-10-PANXDR-09A-01D TARGET-10-PANXDR-10A-01D 147495 18 10485463 10485464 52 ALL diagnosis snv DNAJA1P5 EXON E1_exon NM_058170 10-PANXPE OLFM3|DNAJA1P5 INTRON|UTR SNP Somatic -4 0.084 SQHIGH 10 54 64 1 46 47 Cosmic_Gene A A T A A TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 118427|94236 1 102358822 102358822 18 ALL diagnosis snv GREB1 missense W715G NM_014668 10-PANXPE GREB1 MISSENSE SNP Somatic 4 0.181 SQHIGH 5 33 38 0 40 40 Cosmic_Gene T T G T T TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 9687 2 11738095 11738095 16 ALL diagnosis snv LOC101927374 EXON E2_exon NM_002941 10-PANXPE ROBO1 INTRON SNP Somatic -1 0.110 SQHIGH 6 23 29 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 6091 3 79460894 79460894 20 ALL diagnosis snv LTB silent G168G NM_002341 10-PANXPE LTB UTR3,SYNONYMOUS SNP Somatic -4 0.084 SQHIGH 10 23 33 1 25 26 G G C G G TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 4050 6 31548717 31548717 20 ALL diagnosis snv CLDN4 silent A20A NM_001305 10-PANXPE CLDN4 SYNONYMOUS SNP dbsnp.134:rs142910620 Somatic PFAM:PF00822:PMP22_Claudin -7 0.066 SQHIGH 7 48 55 0 50 50 C C T C C TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 1364 7 73245591 73245591 20 ALL diagnosis snv MUC17 missense S1941Y NM_001040105 10-PANXPE MUC17 MISSENSE SNP Somatic 1 0.134 SQHIGH 12 55 67 0 87 87 Cosmic_Gene C C A C C TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 140453 7 100680519 100680519 46 ALL diagnosis snv JRK missense G449A NM_003724 10-PANXPE JRK MISSENSE SNP Somatic -6 0.072 SQHIGH 5 16 21 0 16 16 C C G C C TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 8629 8 143746132 143746132 13 ALL diagnosis snv PTCH1 silent P1412P NM_000264 10-PANXPE PTCH1 SYNONYMOUS SNP Somatic 4 0.181 SQHIGH 12 55 67 0 70 70 Cosmic_Gene G G A G G TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 5727 9 98209302 98209302 40 ALL diagnosis snv GPR158 missense R928C NM_020752 10-PANXPE GPR158 MISSENSE SNP dbsnp.134:rs149419744 Somatic -6 0.072 SQHIGH 7 57 64 0 50 50 Cosmic_Gene C C T C C TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 57512 10 25887337 25887337 18 ALL diagnosis snv ZNF215 missense R396Q NM_013250 10-PANXPE ZNF215 MISSENSE SNP Somatic 2 0.148 SQHIGH 11 43 54 0 54 54 G G A G G TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 7762 11 6977395 6977395 36 ALL diagnosis snv NXF1 nonsense R511* NM_006362 10-PANXPE TMEM223|NXF1 TSS-UPSTREAM|UTR3,NONSENSE SNP Somatic -9 0.056 SQHIGH 7 52 59 0 50 50 Cosmic_Gene G G A G G TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 79064|10482 11 62562453 62562453 19 ALL diagnosis snv LRRK2 missense R2143H NM_198578 10-PANXPE LRRK2 MISSENSE SNP Somatic 3 0.163 SQHIGH 7 15 22 1 23 24 Cosmic_Gene G G A G G TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 120892 12 40745387 40745387 18 ALL diagnosis snv LMO7 nonsense R246* NM_015842 10-PANXPE LMO7 INTRON,NONSENSE SNP Somatic 16 0.752 SQHIGH 11 27 38 0 57 57 Cosmic_Gene C C T C C TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 4008 13 76381854 76381854 48 ALL diagnosis snv PDILT missense R459W NM_174924 10-PANXPE PDILT MISSENSE SNP Somatic -7 0.066 SQHIGH 7 38 45 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 204474 16 20373767 20373767 21 ALL diagnosis snv ATP2A1 missense D660N NM_004320 10-PANXPE ATP2A1 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 0 0.122 SQHIGH 5 19 24 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 487 16 28912115 28912115 19 ALL diagnosis snv PSMD7 missense S241N NM_002811 10-PANXPE PSMD7|LOC100506201 MISSENSE|UTR SNP Somatic -9 0.056 SQHIGH 4 20 24 0 30 30 G G A G G TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 5713|100506201 16 74339378 74339378 15 ALL diagnosis snv LOXHD1 missense D1609N NM_144612 10-PANXPE LOXHD1 MISSENSE SNP Somatic 1 0.134 SQHIGH 14 59 73 0 68 68 C C T C C TARGET-10-PANXPE-03A-01D TARGET-10-PANXPE-10A-01D 125336 18 44104480 44104480 43 ALL relapse snv NRAS missense G12D NM_002524 10-PANXPE NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 12 0.471 SQHIGH 13 28 41 0 37 37 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 4893 1 115258747 115258747 41 ALL relapse snv LRP1B missense M1421I NM_018557 10-PANXPE LRP1B MISSENSE SNP Somatic -6 0.075 SQHIGH 5 4 9 1 20 21 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 53353 2 141625739 141625739 23 ALL relapse snv STAT1 missense A630V NM_007315 10-PANXPE STAT1 MISSENSE SNP Somatic 15 0.691 SQHIGH 16 10 26 0 31 31 Cosmic_Gene G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 6772 2 191841736 191841736 70 ALL relapse snv IP6K2 missense R255C NM_016291 10-PANXPE NCKIPSD|IP6K2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03770:IPK -3 0.096 SQHIGH 6 31 37 0 41 41 G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 51517|51447 3 48726988 48726988 20 ALL relapse snv LOC101927374 EXON E2_exon NM_002941 10-PANXPE ROBO1 INTRON SNP Somatic 13 0.527 SQHIGH 11 8 19 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 6091 3 79460894 79460894 56 ALL relapse snv GP5 missense A307T NM_004488 10-PANXPE GP5 MISSENSE SNP Somatic -8 0.064 SQHIGH 4 27 31 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 2814 3 194118093 194118093 14 ALL relapse snv SLC34A2 missense W502L NM_006424 10-PANXPE SLC34A2 MISSENSE SNP Somatic PFAM:PF02690:Na_Pi_cotrans 8 0.306 SQHIGH 23 50 73 0 80 80 Cosmic_Gene G G T G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 10568 4 25677803 25677803 83 ALL relapse snv CCNG2 splice_region K202_E5splice_region NM_004354 10-PANXPE CCNG2 INTRON SNP Somatic 8 0.306 SQHIGH 6 20 26 0 25 25 Cosmic_Gene G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 901 4 78082719 78082719 19 ALL relapse snv GRM4 missense R483H NM_000841 10-PANXPE GRM4 MISSENSE SNP Somatic PFAM:PF02608:Bmp 15 0.691 SQHIGH 35 33 68 0 81 81 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 2914 6 34008013 34008013 147 ALL relapse snv CLDN4 silent A20A NM_001305 10-PANXPE CLDN4 SYNONYMOUS SNP dbsnp.134:rs142910620 Somatic PFAM:PF00822:PMP22_Claudin 6 0.248 SQHIGH 22 38 60 0 50 50 C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 1364 7 73245591 73245591 67 ALL relapse snv MUC17 missense S1941Y NM_001040105 10-PANXPE MUC17 MISSENSE SNP Somatic 3 0.174 SQHIGH 36 46 82 0 87 87 Cosmic_Gene C C A C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 140453 7 100680519 100680519 135 ALL relapse snv KCNS2 silent F71F NM_020697 10-PANXPE KCNS2 SYNONYMOUS SNP Somatic PFAM:PF00651:BTB 4 0.194 SQHIGH 33 54 87 0 77 77 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 3788 8 99440420 99440420 106 ALL relapse snv TG silent Y48Y NM_003235 10-PANXPE TG SYNONYMOUS SNP dbsnp.132:rs114436500 Somatic 3 0.174 SQHIGH 36 56 92 0 67 67 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 7038 8 133880436 133880436 101 ALL relapse snv GPAA1 silent G596G NM_003801 10-PANXPE GPAA1 SYNONYMOUS SNP Somatic PFAM:PF04114:Gaa1 1 0.141 SQHIGH 20 34 54 0 43 43 C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 8733 8 145140950 145140950 59 ALL relapse snv SLC18A3 missense V420I NM_003055 10-PANXPE SLC18A3|CHAT MISSENSE|INTRON,TSS-UPSTREAM SNP Somatic PFAM:PF07690:MFS_1 9 0.339 SQHIGH 50 35 85 2 70 72 Cosmic_Gene G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 6572|1103 10 50820044 50820044 148 ALL relapse snv KNDC1 silent S334S NM_152643 10-PANXPE KNDC1 SYNONYMOUS SNP Somatic 6 0.248 SQHIGH 21 40 61 1 89 90 Cosmic_Gene G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 85442 10 134999854 134999854 81 ALL relapse snv ZNF215 missense R396Q NM_013250 10-PANXPE ZNF215 MISSENSE SNP Somatic 13 0.527 SQHIGH 27 31 58 0 54 54 G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 7762 11 6977395 6977395 94 ALL relapse snv ANO3 splice_region R246_E7splice_region NM_031418 10-PANXPE ANO3 DONOR SNP Somatic 7 0.277 SQHIGH 13 6 19 0 22 22 Cosmic_Gene T T C T T TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 63982 11 26547229 26547229 58 ALL relapse snv SYT12 missense T88M NM_177963 10-PANXPE SYT12 MISSENSE SNP Somatic 1 0.141 SQHIGH 8 31 39 0 43 43 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 91683 11 66807316 66807316 28 ALL relapse snv SORL1 silent Y2177Y NM_003105 10-PANXPE SORL1 SYNONYMOUS SNP Somatic 15 0.691 SQHIGH 41 33 74 0 66 66 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 6653 11 121498430 121498430 146 ALL relapse snv PZP missense E488K NM_002864 10-PANXPE PZP MISSENSE SNP Somatic PFAM:PF07703:A2M_N_2 16 0.754 SQHIGH 29 36 65 0 86 86 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 5858 12 9345128 9345128 126 ALL relapse snv PZP missense L486F NM_002864 10-PANXPE PZP MISSENSE SNP Somatic PFAM:PF07703:A2M_N_2 14 0.606 SQHIGH 30 44 74 1 86 87 Cosmic_Gene T T A T T TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 5858 12 9345132 9345132 105 ALL relapse snv LRRK2 missense R2143H NM_198578 10-PANXPE LRRK2 MISSENSE SNP Somatic 4 0.194 SQHIGH 12 14 26 1 23 24 Cosmic_Gene G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 120892 12 40745387 40745387 32 ALL relapse snv KMT2D silent L4205L NM_003482 10-PANXPE KMT2D SYNONYMOUS SNP Somatic 12 0.471 SQHIGH 54 49 103 0 79 79 Cosmic_Gene C C A C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 8085 12 49425873 49425873 170 ALL relapse snv LMO7 nonsense R246* NM_015842 10-PANXPE LMO7 INTRON,NONSENSE SNP Somatic 15 0.691 SQHIGH 25 28 53 0 57 57 Cosmic_Gene C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 4008 13 76381854 76381854 96 ALL relapse snv SNX6 missense D110E NM_021249 10-PANXPE SNX6 MISSENSE SNP Somatic PFAM:PF03114:BAR 4 0.194 SQHIGH 9 14 23 0 13 13 A A T A A TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 58533 14 35062291 35062291 21 ALL relapse snv MOK missense T159M NM_014226 10-PANXPE MOK MISSENSE SNP Somatic 6 0.248 SQHIGH 13 41 54 0 42 42 G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 5891 14 102717263 102717263 36 ALL relapse snv UNC13C missense R2082H NM_001080534 10-PANXPE UNC13C MISSENSE SNP Somatic 15 0.691 SQHIGH 11 28 39 2 45 47 Cosmic_Gene G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 440279 15 54916038 54916038 26 ALL relapse snv CREBBP missense C1408W NM_004380 10-PANXPE CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 13 0.527 SQHIGH 23 29 52 0 66 66 Cosmic_Gene G G C G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 1387 16 3789635 3789635 97 ALL relapse snv PDILT missense R459W NM_174924 10-PANXPE PDILT MISSENSE SNP Somatic 17 0.852 SQHIGH 24 19 43 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 204474 16 20373767 20373767 89 ALL relapse snv DLGAP1-AS5 EXON E1_exon NM_004746 10-PANXPE DLGAP1|LOC284215 INTRON|UTR SNP Somatic 1 0.141 SQHIGH 29 82 111 0 66 66 Cosmic_Gene C C A C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 9229|284215 18 4295053 4295053 66 ALL relapse snv LOXHD1 missense D1609N NM_144612 10-PANXPE LOXHD1 MISSENSE SNP Somatic 6 0.248 SQHIGH 36 61 97 0 68 68 C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 125336 18 44104480 44104480 98 ALL relapse snv ZNF324 missense P165L NM_014347 10-PANXPE ZNF324 MISSENSE SNP Somatic 20 0.996 SQHIGH 16 22 38 0 59 59 C C T C C TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 25799 19 58982353 58982353 76 ALL relapse snv SEPT6 silent T65T NM_145799 10-PANXPE SEPT6 SYNONYMOUS SNP Somatic PFAM:PF00735:Septin 4 0.194 SQHIGH 15 49 64 0 47 47 Cosmic_Gene G G T G G TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 23157 X 118797591 118797591 39 ALL relapse mnv WDR93 missense K246I NM_020212 10-PANXPE WDR93 MISSENSE Sub Somatic -10 0.287 SQHIGH 21 34 55 0 62 62 Cosmic_Gene AA AA TC AA AA TARGET-10-PANXPE-04A-01D TARGET-10-PANXPE-10A-01D 56964 15 90258307 90258308 80 ALL diagnosis snv LEPRE1 silent A414A NM_022356 10-PANYEJ LEPRE1 SYNONYMOUS SNP Somatic 12 0.403 SQHIGH 18 22 40 0 48 48 Cosmic_Gene G G A G G TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 64175 1 43220643 43220643 73 ALL diagnosis snv UBE2T missense Y75S NM_014176 10-PANYEJ UBE2T MISSENSE SNP Somatic 1 0.109 SQHIGH 6 15 21 1 30 31 T T G T T TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 29089 1 202302639 202302639 19 ALL diagnosis snv HADHA silent L708L NM_000182 10-PANYEJ HADHA SYNONYMOUS SNP Somatic -6 0.057 SQHIGH 4 39 43 0 53 53 Cosmic_Gene A A C A A TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 3030 2 26414374 26414374 14 ALL diagnosis snv AAK1 silent P461P NM_014911 10-PANYEJ AAK1 SYNONYMOUS SNP Somatic -10 0.040 SQHIGH 4 18 22 0 27 27 G G T G G TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 22848 2 69746200 69746200 15 ALL diagnosis snv CCDC13 silent G494G NM_144719 10-PANYEJ CCDC13 SYNONYMOUS SNP Somatic -8 0.047 SQHIGH 3 8 11 0 19 19 Cosmic_Gene G G A G G TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 152206 3 42774991 42774991 14 ALL diagnosis snv KLHL18 missense E148A NM_025010 10-PANYEJ KLHL18 MISSENSE SNP Somatic PFAM:PF07707:BACK -6 0.057 SQHIGH 4 31 35 0 43 43 A A C A A TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 23276 3 47371482 47371482 14 ALL diagnosis snv SCAP missense V928I NM_012235 10-PANYEJ SCAP MISSENSE SNP Somatic 13 0.454 SQHIGH 16 10 26 0 26 26 Cosmic_Gene C C T C C TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 22937 3 47458982 47458982 63 ALL diagnosis snv FAM198B missense P148L NM_001031700 10-PANYEJ FAM198B MISSENSE SNP Somatic 14 0.521 SQHIGH 15 24 39 0 40 40 G G A G G TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 51313 4 159092085 159092085 53 ALL diagnosis snv BARHL1 missense R255L NM_020064 10-PANYEJ BARHL1 MISSENSE SNP Somatic -5 0.061 SQHIGH 5 33 38 0 39 39 G G T G G TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 56751 9 135464689 135464689 16 ALL diagnosis snv PLCB3 silent A877A NM_000932 10-PANYEJ PLCB3 SYNONYMOUS SNP Somatic 3 0.137 SQHIGH 18 17 35 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 5331 11 64031563 64031563 64 ALL diagnosis snv ATF7IP missense S744L NM_018179 10-PANYEJ ATF7IP MISSENSE SNP Somatic 16 0.676 SQHIGH 18 16 34 1 25 26 Cosmic_Gene C C T C C TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 55729 12 14613501 14613501 45 ALL diagnosis snv NT5DC3 splice A396A NM_001031701 10-PANYEJ NT5DC3 SYNONYMOUS SNP Somatic PFAM:PF06888:Put_Phosphatase 12 0.403 SQHIGH 12 16 28 0 30 30 Cosmic_Gene C C T C C TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 51559 12 104181219 104181219 45 ALL diagnosis snv PTPN11 missense E69K NM_002834 10-PANYEJ PTPN11 MISSENSE SNP Somatic 12 0.403 SQHIGH 13 14 27 0 41 41 COSMIC:mut:13013 Cosmic_Gene G G A G G TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 5781 12 112888189 112888189 62 ALL diagnosis snv GPR12 silent T116T NM_005288 10-PANYEJ GPR12 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 8 0.263 SQHIGH 11 28 39 0 50 50 C C A C C TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 2835 13 27333617 27333617 43 ALL diagnosis snv FMN1 missense T346M NM_001277313 10-PANYEJ FMN1 MISSENSE SNP Somatic 10 0.321 SQHIGH 29 25 54 0 58 58 G G A G G TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 100652815 15 33446079 33446079 115 ALL diagnosis snv S1PR2 missense A118S NM_004230 10-PANYEJ S1PR2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -3 0.072 SQHIGH 3 18 21 0 38 38 Cosmic_Gene C C A C C TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 9294 19 10335230 10335230 14 ALL diagnosis snv DEFB126 missense K26R NM_030931 10-PANYEJ DEFB126 MISSENSE SNP Somatic 4 0.153 SQHIGH 16 17 33 0 47 47 A A G A A TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 81623 20 126074 126074 74 ALL relapse snv GNB1 missense I80T NM_002074 10-PANYGB GNB1 MISSENSE SNP Somatic -10 0.052 SQHIGH 5 47 52 0 60 60 A A G A A TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 2782 1 1737942 1737942 17 ALL relapse snv PRDM16 missense H303R NM_022114 10-PANYGB PRDM16 MISSENSE SNP Somatic 8 0.284 SQHIGH 38 48 86 0 58 58 Cosmic_Gene A A G A A TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 63976 1 3321326 3321326 104 ALL relapse snv C1orf127 missense A429V NM_001170754 10-PANYGB C1orf127 MISSENSE SNP Somatic 14 0.597 SQHIGH 30 35 65 0 75 75 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 148345 1 11009685 11009685 120 ALL relapse snv NPPA missense A16S NM_006172 10-PANYGB NPPA MISSENSE SNP Somatic 15 0.689 SQHIGH 34 33 67 0 81 81 Cosmic_Gene C C A C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 4878 1 11907696 11907696 144 ALL relapse snv RPL11 missense C72R NM_000975 10-PANYGB RPL11 MISSENSE SNP Somatic PFAM:PF00673:Ribosomal_L5_C 1 0.136 SQHIGH 9 46 55 0 39 39 Cosmic_Gene T T C T T TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 6135 1 24020353 24020353 22 ALL relapse snv ACTG1P4 EXON E2_exon NM_020978 10-PANYGB LOC648740|AMY2B UTR|INTRON SNP Somatic 2 0.150 SQHIGH 35 43 78 0 57 57 C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 648740|280 1 104112679 104112679 102 ALL relapse snv NUP210L missense R680H NM_207308 10-PANYGB NUP210L MISSENSE SNP Somatic 19 0.959 SQHIGH 15 11 26 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 91181 1 154067559 154067559 74 ALL relapse snv CD1B missense R280Q NM_001764 10-PANYGB CD1B MISSENSE SNP Somatic 1 0.136 SQHIGH 6 31 37 0 49 49 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 910 1 158299207 158299207 23 ALL relapse snv OR2T6 missense K302R NM_001005471 10-PANYGB OR2T6 MISSENSE SNP Somatic 9 0.318 SQHIGH 22 40 62 0 62 62 Cosmic_Gene A A G A A TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 254879 1 248551814 248551814 76 ALL relapse snv TMEM185B silent P167P NM_024121 10-PANYGB TMEM185B SYNONYMOUS SNP Somatic PFAM:PF10269:Tmemb_185A 12 0.456 SQHIGH 29 32 61 0 70 70 C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 79134 2 120980052 120980052 117 ALL relapse snv LOC101929680 EXON E7_exon NM_002977 10-PANYGB SCN9A INTRON SNP Somatic 3 0.164 SQHIGH 10 6 16 0 16 16 Cosmic_Gene G G C G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 6335 2 167157668 167157668 39 ALL relapse snv FZD7 missense V301M NM_003507 10-PANYGB FZD7 MISSENSE SNP Somatic PFAM:PF01534:Frizzled -8 0.061 SQHIGH 9 42 51 0 51 51 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 8324 2 202900271 202900271 29 ALL relapse snv CACNA1D missense V1623M NM_000720 10-PANYGB CACNA1D MISSENSE SNP Somatic PFAM:PF08763:Ca_chan_IQ 5 0.201 SQHIGH 22 36 58 0 51 51 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 776 3 53820863 53820863 70 ALL relapse snv SLC26A1 silent V180V NM_022042 10-PANYGB SLC26A1|IDUA SYNONYMOUS|INTRON SNP Somatic 5 0.201 SQHIGH 18 25 43 1 36 37 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 10861|3425 4 984952 984952 47 ALL relapse snv SORCS2 missense R666C NM_020777 10-PANYGB SORCS2 MISSENSE SNP Somatic 1 0.136 SQHIGH 10 57 67 1 52 53 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 57537 4 7715973 7715973 19 ALL relapse snv LIMCH1 missense R509H NM_014988 10-PANYGB LIMCH1 MISSENSE SNP dbsnp.134:rs150199410 Somatic 6 0.228 SQHIGH 27 25 52 0 44 44 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 22998 4 41648771 41648771 90 ALL relapse snv ANK2 splice_region K759_E20splice_region NM_001148 10-PANYGB ANK2 INTRON SNP Somatic 3 0.164 SQHIGH 10 18 28 0 20 20 Cosmic_Gene A A C A A TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 287 4 114209650 114209650 27 ALL relapse snv TRIO splice_region K351_E5splice_region NM_007118 10-PANYGB TRIO INTRON SNP Somatic 11 0.404 SQHIGH 38 39 77 0 44 44 Cosmic_Gene G G C G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 7204 5 14291346 14291346 95 ALL relapse snv FSTL4 silent H712H NM_015082 10-PANYGB FSTL4 SYNONYMOUS SNP Somatic -6 0.073 SQHIGH 11 64 75 0 71 71 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 23105 5 132535180 132535180 33 ALL relapse snv PCDHGB3 nonsense R518* NM_018924 10-PANYGB PCDHGA3|PCDHGB3|PCDHGA4|PCDHGB1|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 INTRON|NONSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON SNP Somatic 4 0.182 SQHIGH 17 37 54 2 48 50 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 56112|56102|56111|56104|56113|56110|56114|56109|56103 5 140751513 140751513 37 ALL relapse snv PCDHGB5 silent Y518Y NM_018925 10-PANYGB PCDHGA8|PCDHGA3|PCDHGB3|PCDHGB5|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 11 0.404 SQHIGH 43 44 87 0 72 72 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 9708|56112|56102|56101|56111|56107|56104|56108|8641|56113|56110|56114|56109|56103 5 140779248 140779248 140 ALL relapse snv NR3C1 splice G583_E5splice NM_000176 10-PANYGB NR3C1 DISRUPT SNP Somatic 15 0.689 SQHIGH 12 19 31 0 38 38 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 2908 5 142680049 142680049 48 ALL relapse snv ADAM19 missense G312S NM_033274 10-PANYGB ADAM19 MISSENSE SNP Somatic 9 0.318 SQHIGH 19 27 46 0 50 50 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 8728 5 156934120 156934120 71 ALL relapse snv ZFP2 missense L89V NM_030613 10-PANYGB ZFP2 MISSENSE SNP Somatic -6 0.073 SQHIGH 9 44 53 1 47 48 Cosmic_Gene T T G T T TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 80108 5 178358579 178358579 19 ALL relapse snv IL22RA2 missense R204P NM_052962 10-PANYGB IL22RA2 INTRON,MISSENSE SNP Somatic PFAM:PF09294:Interfer-bind 8 0.284 SQHIGH 7 11 18 0 19 19 C C G C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 116379 6 137468890 137468890 25 ALL relapse snv LPA missense P1428Q NM_005577 10-PANYGB LPA MISSENSE SNP Somatic 10 0.359 SQHIGH 25 28 53 0 49 49 Cosmic_Gene G G T G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 4018 6 161006084 161006084 87 ALL relapse snv GRM3 missense R270C NM_000840 10-PANYGB GRM3 MISSENSE SNP Somatic 3 0.164 SQHIGH 29 26 55 2 44 46 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 2913 7 86415916 86415916 74 ALL relapse snv XPO7 missense L446V NM_015024 10-PANYGB XPO7 MISSENSE SNP Somatic 8 0.284 SQHIGH 21 11 32 0 22 22 Cosmic_Gene C C G C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 23039 8 21842215 21842215 66 ALL relapse snv XKR9 missense L147R NM_001011720 10-PANYGB XKR9 MISSENSE SNP Somatic PFAM:PF09815:XK-related -1 0.112 SQHIGH 4 13 17 0 22 22 Cosmic_Gene T T G T T TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 389668 8 71619335 71619335 15 ALL relapse snv SLC45A4 silent D234D NM_001080431 10-PANYGB SLC45A4 SYNONYMOUS SNP Somatic 8 0.284 SQHIGH 15 23 38 2 38 40 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 57210 8 142228884 142228884 37 ALL relapse snv MPDZ missense D1272Y NM_003829 10-PANYGB MPDZ MISSENSE SNP Somatic -8 0.061 SQHIGH 12 18 30 1 20 21 Cosmic_Gene C C A C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 8777 9 13143491 13143491 24 ALL relapse snv LHX6 silent P369P NM_014368 10-PANYGB LHX6 SYNONYMOUS,INTRON SNP Somatic 14 0.597 SQHIGH 40 37 77 0 58 58 G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 26468 9 124971944 124971944 124 ALL relapse snv LAMC3 missense G55R NM_006059 10-PANYGB LAMC3 MISSENSE SNP Somatic PFAM:PF00055:Laminin_N -1 0.112 SQHIGH 5 10 15 1 41 42 Cosmic_Gene G G C G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 10319 9 133884764 133884764 24 ALL relapse snv JMJD1C missense R279H NM_032776 10-PANYGB JMJD1C MISSENSE SNP Somatic 4 0.182 SQHIGH 7 9 16 0 15 15 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 221037 10 64975202 64975202 24 ALL relapse snv NPFFR1 splice_region R141_E4splice_region NM_022146 10-PANYGB NPFFR1 ACCEPTOR SNP Somatic 3 0.164 SQHIGH 32 34 66 0 43 43 G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 64106 10 72015591 72015591 87 ALL relapse snv SUFU silent L316L NM_016169 10-PANYGB SUFU SYNONYMOUS SNP Somatic PFAM:PF12470:SUFU_C 10 0.359 SQHIGH 37 50 87 0 89 89 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 51684 10 104359227 104359227 135 ALL relapse snv PNLIPRP1 splice R355_E10splice NM_006229 10-PANYGB PNLIPRP1 DISRUPT SNP Somatic 16 0.755 SQHIGH 20 29 49 0 52 52 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 5407 10 118360714 118360714 74 ALL relapse snv TACC2 missense G1513S NM_206862 10-PANYGB TACC2 INTRON,MISSENSE SNP Somatic 2 0.150 SQHIGH 14 62 76 0 83 83 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 10579 10 123846552 123846552 48 ALL relapse snv MUC5B missense D82N NM_002458 10-PANYGB MUC5B MISSENSE SNP Somatic PFAM:PF00094:VWD -2 0.102 SQHIGH 16 65 81 0 86 86 G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 727897 11 1247889 1247889 54 ALL relapse snv NLRP10 silent K8K NM_176821 10-PANYGB NLRP10 SYNONYMOUS SNP Somatic 5 0.201 SQHIGH 31 36 67 0 69 69 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 338322 11 7985019 7985019 115 ALL relapse snv ST5 missense A334T NM_005418 10-PANYGB ST5 INTRON,MISSENSE SNP Somatic 4 0.182 SQHIGH 14 45 59 1 59 60 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 6764 11 8751837 8751837 37 ALL relapse snv USH1C missense P519L NM_153676 10-PANYGB USH1C INTRON,MISSENSE SNP Somatic -1 0.112 SQHIGH 11 11 22 0 23 23 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 10083 11 17531360 17531360 42 ALL relapse snv RAPSN splice_region E230_E3splice_region NM_005055 10-PANYGB RAPSN DONOR SNP Somatic -6 0.073 SQHIGH 16 6 22 0 17 17 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 5913 11 47464205 47464205 57 ALL relapse snv TECTA missense R108G NM_005422 10-PANYGB TECTA MISSENSE SNP Somatic PFAM:PF06119:NIDO 6 0.228 SQHIGH 16 52 68 0 67 67 Cosmic_Gene C C G C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 7007 11 120980043 120980043 52 ALL relapse snv ARHGAP32 silent A1076A NM_001142685 10-PANYGB ARHGAP32 SYNONYMOUS SNP dbsnp.134:rs141213420 Somatic 10 0.359 SQHIGH 34 41 75 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 9743 11 128843131 128843131 94 ALL relapse snv ADAMTS15 nonsense E803* NM_139055 10-PANYGB ADAMTS15 NONSENSE SNP Somatic 1 0.136 SQHIGH 38 64 102 0 73 73 Cosmic_Gene G G T G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 170689 11 130343270 130343270 105 ALL relapse snv SLCO1B7 silent P425P NM_001009562 10-PANYGB SLCO1B7 SYNONYMOUS SNP Somatic PFAM:PF03137:OATP 8 0.284 SQHIGH 10 20 30 0 30 30 C C A C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 338821 12 21205114 21205114 34 ALL relapse snv YEATS4 missense R205H NM_006530 10-PANYGB YEATS4 MISSENSE SNP Somatic 13 0.516 SQHIGH 15 17 32 0 21 21 G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 8089 12 69784026 69784026 40 ALL relapse snv SLC17A8 nonsense S168* NM_139319 10-PANYGB SLC17A8 NONSENSE SNP Somatic 17 0.860 SQHIGH 30 32 62 0 61 61 Cosmic_Gene C C A C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 246213 12 100787176 100787176 109 ALL relapse snv PXN missense Q549L NM_002859 10-PANYGB PXN|LOC100506649 MISSENSE|INTRON SNP Somatic PFAM:PF00412:LIM 9 0.318 SQHIGH 26 40 66 0 74 74 Cosmic_Gene T T A T T TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 5829|100506649 12 120650145 120650145 99 ALL relapse snv DYNLL1-AS1 EXON E1_exon NM_001037494 10-PANYGB LOC100506668|DYNLL1 UTR|INTRON,TSS-UPSTREAM SNP Somatic 15 0.689 SQHIGH 25 23 48 0 49 49 G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 100506668|8655 12 120929796 120929796 95 ALL relapse snv CAMKK2 silent R494R NM_006549 10-PANYGB CAMKK2 SYNONYMOUS SNP Somatic 13 0.516 SQHIGH 50 50 100 3 92 95 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 10645 12 121683014 121683014 142 ALL relapse snv HTR2A-AS1 EXON E3_exon NM_000621 10-PANYGB HTR2A INTRON SNP Somatic 6 0.228 SQHIGH 18 33 51 0 41 41 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 3356 13 47428176 47428176 53 ALL relapse snv NFATC4 missense A587V NM_001136022 10-PANYGB NFATC4 MISSENSE SNP Somatic 9 0.318 SQHIGH 32 33 65 0 59 59 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 4776 14 24842912 24842912 111 ALL relapse snv ZNF839 missense V496M NM_018335 10-PANYGB ZNF839 MISSENSE SNP Somatic 8 0.284 SQHIGH 12 14 26 0 20 20 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 55778 14 102800960 102800960 36 ALL relapse snv C15orf52 missense R124L NM_207380 10-PANYGB C15orf52 MISSENSE SNP Somatic 15 0.689 SQHIGH 46 63 109 0 104 104 Cosmic_Gene C C A C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 388115 15 40631097 40631097 160 ALL relapse snv GLDN missense P252T NM_181789 10-PANYGB GLDN MISSENSE SNP Somatic 17 0.860 SQHIGH 19 18 37 0 40 40 Cosmic_Gene C C A C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 342035 15 51689732 51689732 75 ALL relapse snv FURIN missense G260R NM_002569 10-PANYGB FURIN MISSENSE SNP Somatic 1 0.136 SQHIGH 13 51 64 0 49 49 Cosmic_Gene G G C G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 5045 15 91421472 91421472 35 ALL relapse snv DNAH3 missense S2582L NM_017539 10-PANYGB DNAH3 MISSENSE SNP Somatic PFAM:PF00485:PRK 2 0.150 SQHIGH 6 24 30 0 27 27 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 55567 16 20994157 20994157 18 ALL relapse snv KATNB1 missense P429L NM_005886 10-PANYGB KATNB1 MISSENSE SNP Somatic 15 0.689 SQHIGH 35 41 76 0 66 66 C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 10300 16 57788899 57788899 116 ALL relapse snv ALOX12B silent R499R NM_001139 10-PANYGB ALOX12B SYNONYMOUS SNP Somatic PFAM:PF00305:Lipoxygenase 17 0.860 SQHIGH 48 49 97 0 110 110 G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 242 17 7979528 7979528 194 ALL relapse snv ITGA3 missense R105P NM_002204 10-PANYGB ITGA3 MISSENSE SNP Somatic PFAM:PF01839:FG-GAP 16 0.755 SQHIGH 15 22 37 0 30 30 Cosmic_Gene G G C G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 3675 17 48141548 48141548 46 ALL relapse snv HEXDC silent A320A NM_173620 10-PANYGB HEXDC SYNONYMOUS SNP Somatic 8 0.284 SQHIGH 37 35 72 0 76 76 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 284004 17 80397567 80397567 144 ALL relapse snv SALL3 silent A581A NM_171999 10-PANYGB SALL3 SYNONYMOUS SNP Somatic -6 0.073 SQHIGH 7 38 45 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 27164 18 76753734 76753734 20 ALL relapse snv PRSS57 silent G194G NM_214710 10-PANYGB PRSS57 SYNONYMOUS SNP Somatic 6 0.228 SQHIGH 31 49 80 1 74 75 G G T G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 400668 19 686988 686988 91 ALL relapse snv DNM2 silent R770R NM_001005360 10-PANYGB DNM2 SYNONYMOUS SNP Somatic 9 0.318 SQHIGH 25 33 58 0 62 62 Cosmic_Gene C C A C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 1785 19 10940819 10940819 94 ALL relapse snv CCDC151 missense E370K NM_145045 10-PANYGB CCDC151|RGL3 MISSENSE|TSS-UPSTREAM SNP Somatic 13 0.516 SQHIGH 24 22 46 0 43 43 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 115948|57139 19 11534554 11534554 86 ALL relapse snv CCDC151 silent I358I NM_145045 10-PANYGB CCDC151|RGL3 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 8 0.284 SQHIGH 26 29 55 0 79 79 Cosmic_Gene G G T G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 115948|57139 19 11534588 11534588 120 ALL relapse snv ZNF780A missense R211L NM_001142577 10-PANYGB ZNF780A INTRON,MISSENSE SNP Somatic 13 0.516 SQHIGH 30 32 62 1 44 45 C C A C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 284323 19 40581720 40581720 76 ALL relapse snv BIRC8 missense H59L NM_033341 10-PANYGB BIRC8 MISSENSE SNP Somatic 15 0.689 SQHIGH 24 28 52 0 57 57 Cosmic_Gene T T A T T TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 112401 19 53793452 53793452 93 ALL relapse snv ZNF341 missense T292A NM_032819 10-PANYGB ZNF341 MISSENSE SNP Somatic 11 0.404 SQHIGH 14 30 44 0 53 53 Cosmic_Gene A A G A A TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 84905 20 32345086 32345086 54 ALL relapse snv KRTAP22-2 missense Y34N NM_001164434 10-PANYGB KRTAP22-2|KRTAP6-3 MISSENSE|TSS-UPSTREAM SNP Somatic 16 0.755 SQHIGH 10 16 26 0 34 34 A A T A A TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 100288287|337968 21 31962594 31962594 42 ALL relapse snv GPR64 silent V568V NM_001079858 10-PANYGB GPR64 SYNONYMOUS SNP Somatic PFAM:PF01825:GPS 8 0.284 SQHIGH 20 33 53 0 52 52 C C G C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 10149 X 19024369 19024369 69 ALL relapse snv GPKOW missense G7S NM_015698 10-PANYGB GPKOW MISSENSE SNP Somatic 2 0.150 SQHIGH 9 42 51 0 65 65 Cosmic_Gene C C T C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 27238 X 48980054 48980054 34 ALL relapse snv CCNB3 missense M381I NM_033031 10-PANYGB CCNB3 INTRON,MISSENSE SNP Somatic 15 0.689 SQHIGH 29 30 59 0 53 53 Cosmic_Gene G G T G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 85417 X 50052312 50052312 100 ALL relapse snv MAGED1 silent C24C NM_001005333 10-PANYGB MAGED1 SYNONYMOUS,INTRON SNP Somatic 13 0.516 SQHIGH 16 25 41 1 38 39 Cosmic_Gene T T C T T TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 9500 X 51637749 51637749 44 ALL relapse snv HUWE1 silent I1379I NM_031407 10-PANYGB HUWE1 SYNONYMOUS SNP Somatic 17 0.860 SQHIGH 33 31 64 0 70 70 Cosmic_Gene A A G A A TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 10075 X 53617418 53617418 131 ALL relapse snv OGT silent G35G NM_181672 10-PANYGB OGT SYNONYMOUS SNP Somatic 7 0.254 SQHIGH 24 28 52 0 45 45 Cosmic_Gene A A T A A TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 8473 X 70756095 70756095 79 ALL relapse snv ATRX missense R246C NM_000489 10-PANYGB ATRX MISSENSE SNP dbsnp.133:rs122445105 Somatic 16 0.755 SQHIGH 14 21 35 1 26 27 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 546 X 76940012 76940012 31 ALL relapse snv LONRF3 missense A76T NM_001031855 10-PANYGB LONRF3 MISSENSE SNP Somatic 6 0.228 SQHIGH 16 10 26 1 23 24 Cosmic_Gene G G A G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 79836 X 118108969 118108969 49 ALL relapse snv FRMD7 missense D702H NM_194277 10-PANYGB FRMD7 MISSENSE SNP Somatic -1 0.112 SQHIGH 5 27 32 0 35 35 Cosmic_Gene C C G C C TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 90167 X 131211941 131211941 17 ALL relapse mnv PIK3AP1 missense S164_K165>SE NM_152309 10-PANYGB PIK3AP1 MISSENSE Sub Somatic -24 0.110 5 30 35 0 44 44 Cosmic_Gene TC TC CG TC TC TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 118788 10 98416629 98416630 18 ALL relapse mnv SYCE1 missense A23_G24>AE NM_001143763 10-PANYGB SYCE1 INTRON,MISSENSE Sub Somatic 0 0.625 SQHIGH 33 34 67 0 63 63 Cosmic_Gene CCG CCG TCC CCG CCG TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 93426 10 135378963 135378965 117 ALL diagnosis snv SLC26A1 silent V180V NM_022042 10-PANYGB SLC26A1|IDUA SYNONYMOUS|INTRON SNP Somatic 5 0.208 SQHIGH 37 34 71 1 36 37 Cosmic_Gene G G A G G TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 10861|3425 4 984952 984952 74 ALL diagnosis snv MPDZ missense D1272Y NM_003829 10-PANYGB MPDZ MISSENSE SNP Somatic -8 0.060 SQHIGH 11 18 29 1 20 21 Cosmic_Gene C C A C C TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 8777 9 13143491 13143491 22 ALL diagnosis snv ADAMTS15 nonsense E803* NM_139055 10-PANYGB ADAMTS15 NONSENSE SNP Somatic 4 0.186 SQHIGH 43 62 105 0 73 73 Cosmic_Gene G G T G G TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 170689 11 130343270 130343270 118 ALL diagnosis snv DYNLL1-AS1 EXON E1_exon NM_001037494 10-PANYGB LOC100506668|DYNLL1 UTR|INTRON,TSS-UPSTREAM SNP Somatic 13 0.551 SQHIGH 44 32 76 0 49 49 G G A G G TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 100506668|8655 12 120929796 120929796 127 ALL diagnosis snv CAMKK2 silent R494R NM_006549 10-PANYGB CAMKK2 SYNONYMOUS SNP Somatic 8 0.303 SQHIGH 46 60 106 3 92 95 Cosmic_Gene G G A G G TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 10645 12 121683014 121683014 117 ALL diagnosis snv GLDN missense P252T NM_181789 10-PANYGB GLDN MISSENSE SNP Somatic 6 0.240 SQHIGH 31 39 70 0 40 40 Cosmic_Gene C C A C C TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 342035 15 51689732 51689732 75 ALL diagnosis snv KATNB1 missense P429L NM_005886 10-PANYGB KATNB1 MISSENSE SNP Somatic 15 0.722 SQHIGH 41 42 83 0 66 66 C C T C C TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 10300 16 57788899 57788899 130 ALL diagnosis snv ALOX12B silent R499R NM_001139 10-PANYGB ALOX12B SYNONYMOUS SNP Somatic PFAM:PF00305:Lipoxygenase 9 0.341 SQHIGH 57 59 116 0 110 110 G G A G G TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 242 17 7979528 7979528 204 ALL diagnosis snv ZNF524 silent G77G NM_153219 10-PANYGB ZNF524|FIZ1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -4 0.083 SQHIGH 12 53 65 0 51 51 C C G C C TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 147807|84922 19 56113709 56113709 32 ALL diagnosis snv TMPRSS2 missense E13G NM_001135099 10-PANYGB TMPRSS2 INTRON,MISSENSE SNP Somatic -7 0.065 SQHIGH 9 36 47 1 38 39 Cosmic_Gene T T C T T TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 7113 21 42879894 42879894 19 ALL diagnosis snv OGT silent G35G NM_181672 10-PANYGB OGT SYNONYMOUS SNP Somatic 7 0.270 SQHIGH 14 29 43 0 45 45 Cosmic_Gene A A T A A TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 8473 X 70756095 70756095 49 ALL diagnosis snv LONRF3 missense A76T NM_001031855 10-PANYGB LONRF3 MISSENSE SNP Somatic 6 0.240 SQHIGH 16 13 29 1 23 24 Cosmic_Gene G G A G G TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 79836 X 118108969 118108969 43 ALL diagnosis mnv KBTBD4 missense Q105_D106>LF NM_018095 10-PANYGB KBTBD4|NDUFS3 MISSENSE,UTR|TSS-UPSTREAM Sub Somatic PFAM:PF00651:BTB -10 0.272 SQHIGH 23 152 175 3 95 98 Cosmic_Gene TCCT TCCT AACA TCCT TCCT TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 55709|4722 11 47599283 47599286 24 ALL diagnosis mnv ZNF449 missense N301_S302>KT NM_152695 10-PANYGB ZNF449 MISSENSE Sub Somatic -9 0.288 SQHIGH 9 31 40 0 32 32 Cosmic_Gene CT CT AA CT CT TARGET-10-PANYGB-09A-01D TARGET-10-PANYGB-14A-01D 203523 X 134494347 134494348 25 ALL diagnosis snv NPAS3 missense M332K NM_001164749 10-PANYYV NPAS3 MISSENSE SNP Somatic 3 0.169 SQHIGH 11 56 67 0 58 58 Cosmic_Gene T T A T T TARGET-10-PANYYV-03A-01D TARGET-10-PANYYV-10A-01D 64067 14 34243685 34243685 32 ALL diagnosis snv CCNB2 silent P74P NM_004701 10-PANYYV CCNB2 SYNONYMOUS SNP Somatic 3 0.169 SQHIGH 5 31 36 0 38 38 T T A T T TARGET-10-PANYYV-03A-01D TARGET-10-PANYYV-10A-01D 9133 15 59399824 59399824 16 ALL diagnosis snv GTF3C1 missense V564M NM_001520 10-PANYYV GTF3C1 MISSENSE SNP Somatic -2 0.103 SQHIGH 7 33 40 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANYYV-03A-01D TARGET-10-PANYYV-10A-01D 2975 16 27517300 27517300 26 ALL diagnosis snv SIGLEC5 missense R217C NM_003830 10-PANYYV SIGLEC5 MISSENSE SNP Somatic 8 0.297 SQHIGH 22 48 70 1 75 76 Cosmic_Gene G G A G G TARGET-10-PANYYV-03A-01D TARGET-10-PANYYV-10A-01D 8778 19 52132662 52132662 67 ALL diagnosis complex FBN1 frameshift T718fs NM_000138 10-PANYYV FBN1 FRAMESHIFT Sub Somatic -1 0.571 SQHIGH 6 27 33 0 27 27 Cosmic_Gene CGT CGT CTGC CGT CGT TARGET-10-PANYYV-03A-01D TARGET-10-PANYYV-10A-01D 2200 15 48791195 48791197 17 ALL relapse snv TRNAU1AP missense Q158L NM_017846 10-PANYYV TRNAU1AP MISSENSE,UTR SNP Somatic 0 0.136 SQHIGH 6 38 44 1 52 53 A A T A A TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 54952 1 28893868 28893868 15 ALL relapse snv WDR47 missense G727V NM_001142550 10-PANYYV WDR47 MISSENSE SNP Somatic 14 0.635 SQHIGH 12 23 35 0 48 48 Cosmic_Gene C C A C C TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 22911 1 109525341 109525341 51 ALL relapse snv UNC80 missense R207H NM_032504 10-PANYYV UNC80 MISSENSE SNP Somatic 6 0.272 SQHIGH 9 26 35 0 34 34 G G A G G TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 285175 2 210650809 210650809 29 ALL relapse snv CNOT10 missense Q725H NM_015442 10-PANYYV CNOT10 MISSENSE SNP Somatic 13 0.557 SQHIGH 26 30 56 1 49 50 Cosmic_Gene G G T G G TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 25904 3 32815043 32815043 75 ALL relapse snv PRR23B missense G93S NM_001013650 10-PANYYV PRR23B MISSENSE SNP Somatic PFAM:PF10630:DUF2476 15 0.713 SQHIGH 23 29 52 0 66 66 Cosmic_Gene C C T C C TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 389151 3 138739227 138739227 97 ALL relapse snv TMEM232 nonsense R476* NM_001039763 10-PANYYV TMEM232 NONSENSE SNP dbsnp.134:rs148652027 Somatic 14 0.635 SQHIGH 15 12 27 0 31 31 G G A G G TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 642987 5 109904177 109904177 62 ALL relapse snv CCDC180 silent L416L NM_020893 10-PANYYV C9orf174|BDAG1 SYNONYMOUS|UTR SNP Somatic 13 0.557 SQHIGH 20 27 47 0 52 52 G G A G G TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 100499483|57653 9 100082444 100082444 76 ALL relapse snv C10orf71 silent D1326D NM_001135196 10-PANYYV C10orf71 SYNONYMOUS,INTRON SNP Somatic 2 0.169 SQHIGH 29 53 82 2 54 56 C C T C C TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 118461 10 50534568 50534568 55 ALL relapse snv PKD2L1 nonsense Y170* NM_016112 10-PANYYV PKD2L1 NONSENSE SNP Somatic PFAM:PF08016:PKD_channel 11 0.451 SQHIGH 12 32 44 0 27 27 Cosmic_Gene A A T A A TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 9033 10 102058540 102058540 28 ALL relapse snv NLRX1 silent A269A NM_024618 10-PANYYV NLRX1 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK -3 0.101 SQHIGH 6 36 42 1 55 56 Cosmic_Gene T T A T T TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 79671 11 119044765 119044765 16 ALL relapse snv NPAS3 missense M332K NM_001164749 10-PANYYV NPAS3 MISSENSE SNP Somatic 5 0.234 SQHIGH 15 52 67 0 58 58 Cosmic_Gene T T A T T TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 64067 14 34243685 34243685 44 ALL relapse snv EML5 missense A664V NM_183387 10-PANYYV EML5 MISSENSE SNP Somatic 1 0.152 SQHIGH 5 14 19 0 18 18 Cosmic_Gene G G A G G TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 161436 14 89171264 89171264 16 ALL relapse snv DMXL2 missense C1374S NM_015263 10-PANYYV DMXL2 INTRON,MISSENSE SNP Somatic 11 0.451 SQHIGH 19 25 44 2 52 54 Cosmic_Gene C C G C C TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 23312 15 51791300 51791300 58 ALL relapse snv CREBBP missense S1436N NM_004380 10-PANYYV CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 7 0.301 SQHIGH 18 24 42 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 1387 16 3788647 3788647 61 ALL relapse snv GTF3C1 missense V564M NM_001520 10-PANYYV GTF3C1 MISSENSE SNP Somatic 16 0.774 SQHIGH 36 24 60 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 2975 16 27517300 27517300 127 ALL relapse snv SRCAP missense R1098W NM_006662 10-PANYYV SRCAP MISSENSE SNP Somatic 15 0.713 SQHIGH 28 21 49 0 55 55 Cosmic_Gene C C T C C TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 10847 16 30732548 30732548 117 ALL relapse snv BRCA1 silent D749D NM_007294 10-PANYYV BRCA1 SYNONYMOUS,INTRON,UTR SNP Somatic PFAM:PF04873:EIN3 -4 0.092 SQHIGH 11 66 77 0 58 58 Cosmic_Gene A A G A A TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 672 17 41245301 41245301 28 ALL relapse snv DLGAP1-AS5 EXON E1_exon NM_004746 10-PANYYV DLGAP1|LOC284215 INTRON|UTR SNP dbsnp.134:rs147931351 Somatic 4 0.210 SQHIGH 23 56 79 0 72 72 Cosmic_Gene G G A G G TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 9229|284215 18 4295108 4295108 72 ALL relapse snv NCCRP1 missense H212D NM_001001414 10-PANYYV NCCRP1 MISSENSE SNP Somatic PFAM:PF04300:FBA 2 0.169 SQHIGH 5 28 33 0 56 56 Cosmic_Gene C C G C C TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 342897 19 39691071 39691071 22 ALL relapse snv CRX silent P184P NM_000554 10-PANYYV CRX SYNONYMOUS SNP Somatic -1 0.123 SQHIGH 8 38 46 0 53 53 Cosmic_Gene G G A G G TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 1406 19 48342876 48342876 28 ALL relapse snv SIGLEC5 missense R217C NM_003830 10-PANYYV SIGLEC5 MISSENSE SNP Somatic -7 0.072 SQHIGH 31 50 81 1 75 76 Cosmic_Gene G G A G G TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 8778 19 52132662 52132662 91 ALL diagnosis snv CLCA4 silent D782D NM_012128 10-PANYZE CLCA4 SYNONYMOUS,UTR SNP Somatic 10 0.327 SQHIGH 19 18 37 0 35 35 Cosmic_Gene T T C T T TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 22802 1 87045260 87045260 68 ALL diagnosis snv FLG2 missense D2003Y NM_001014342 10-PANYZE LOC339400|FLG2 INTRON|MISSENSE SNP Somatic 15 0.628 SQHIGH 43 19 62 0 47 47 Cosmic_Gene C C A C C TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 339400|388698 1 152324255 152324255 150 ALL diagnosis snv ADAMTS16 missense V42I NM_139056 10-PANYZE ADAMTS16 MISSENSE SNP Somatic 0 0.120 SQHIGH 11 4 15 0 11 11 Cosmic_Gene G G A G G TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 170690 5 5140828 5140828 38 ALL diagnosis snv PKHD1 missense T136I NM_138694 10-PANYZE PKHD1 MISSENSE SNP Somatic 9 0.292 SQHIGH 24 26 50 0 25 25 Cosmic_Gene G G A G G TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 5314 6 51941115 51941115 53 ALL diagnosis snv AOC1 missense R719W NM_001091 10-PANYZE AOC1 MISSENSE SNP Somatic 19 0.945 SQHIGH 21 12 33 1 38 39 Cosmic_Gene C C T C C TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 26 7 150558196 150558196 81 ALL diagnosis snv AP2A2 missense T654M NM_012305 10-PANYZE AP2A2 MISSENSE SNP Somatic 17 0.826 SQHIGH 14 24 38 0 35 35 C C T C C TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 161 11 1000436 1000436 46 ALL diagnosis snv TUB-AS1 EXON E2_exon NM_003320 10-PANYZE TUB INTRON SNP Somatic -6 0.072 SQHIGH 33 19 52 1 22 23 Cosmic_Gene G G C G G TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 7275 11 8089916 8089916 61 ALL diagnosis snv SLC6A5 splice D329_E5splice NM_004211 10-PANYZE SLC6A5 DISRUPT SNP Somatic 16 0.704 SQHIGH 20 23 43 1 40 41 Cosmic_Gene G G C G G TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 9152 11 20629199 20629199 59 ALL diagnosis snv ZNF219 missense H320Q NM_016423 10-PANYZE ZNF219 MISSENSE SNP Somatic 16 0.704 SQHIGH 16 14 30 0 31 31 Cosmic_Gene G G T G G TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 51222 14 21560496 21560496 61 ALL diagnosis snv PLEKHH1 missense R344H NM_020715 10-PANYZE PLEKHH1 MISSENSE SNP Somatic 11 0.366 SQHIGH 21 18 39 0 47 47 G G A G G TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 57475 14 68029379 68029379 90 ALL diagnosis snv SUPT6H missense E1112K NM_003170 10-PANYZE SUPT6H MISSENSE SNP Somatic 17 0.826 SQHIGH 34 34 68 0 65 65 Cosmic_Gene G G A G G TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 6830 17 27016571 27016571 123 ALL diagnosis snv GATA6 missense P430T NM_005257 10-PANYZE GATA6 MISSENSE SNP Somatic 13 0.470 SQHIGH 8 17 25 0 26 26 Cosmic_Gene C C A C C TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 2627 18 19757068 19757068 28 ALL diagnosis snv EVI5L splice_region Q600_E15splice_region NM_001159944 10-PANYZE EVI5L DONOR SNP Somatic 13 0.470 SQHIGH 10 6 16 0 22 22 Cosmic_Gene G G A G G TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 115704 19 7927167 7927167 48 ALL diagnosis snv C21orf91 missense A69E NM_001100420 10-PANYZE C21orf91|C21orf91-OT1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF06937:EURL 7 0.238 SQHIGH 19 64 83 0 33 33 Cosmic_Gene G G T G G TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 54149|246312 21 19169357 19169357 31 ALL relapse snv KIF1B silent Q1058Q NM_183416 10-PANZPJ KIF1B SYNONYMOUS,INTRON SNP Somatic 14 0.540 SQHIGH 17 24 41 0 51 51 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 23095 1 10364417 10364417 70 ALL relapse snv EIF4G3 silent T1573T NM_003760 10-PANZPJ EIF4G3 SYNONYMOUS SNP Somatic PFAM:PF02020:W2 2 0.127 SQHIGH 21 14 35 0 20 20 Cosmic_Gene C C A C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 8672 1 21133851 21133851 56 ALL relapse snv PTPRU missense I375N NM_133178 10-PANZPJ PTPRU MISSENSE SNP Somatic 18 0.894 SQHIGH 16 10 26 0 29 29 Cosmic_Gene T T A T T TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 10076 1 29587395 29587395 67 ALL relapse snv MACF1 missense N2724S NM_012090 10-PANZPJ MACF1 MISSENSE SNP Somatic 15 0.646 SQHIGH 26 30 56 0 56 56 Cosmic_Gene A A G A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 23499 1 39852871 39852871 95 ALL relapse snv GBP3 splice A383A NM_018284 10-PANZPJ GBP3 SYNONYMOUS SNP Somatic PFAM:PF02841:GBP_C 4 0.154 SQHIGH 30 24 54 1 46 47 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 2635 1 89477430 89477430 92 ALL relapse snv VCAM1 silent N552N NM_001078 10-PANZPJ VCAM1 SYNONYMOUS SNP Somatic 16 0.722 SQHIGH 21 15 36 0 28 28 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 7412 1 101198104 101198104 69 ALL relapse snv ACTG1P4 EXON E2_exon NM_020978 10-PANZPJ LOC648740|AMY2B UTR|INTRON SNP Somatic 11 0.354 SQHIGH 21 33 54 1 52 53 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 648740|280 1 104113040 104113040 61 ALL relapse snv CASQ2 missense E377D NM_001232 10-PANZPJ CASQ2 MISSENSE SNP dbsnp.134:rs148824162 Somatic 0 0.105 SQHIGH 17 45 62 0 70 70 Cosmic_Gene T T A T T TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 845 1 116243931 116243931 62 ALL relapse snv CHD1L splice S165_E5splice NM_004284 10-PANZPJ CHD1L DISRUPT SNP Somatic 14 0.540 SQHIGH 21 19 40 0 42 42 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 9557 1 146728217 146728217 81 ALL relapse snv SH2D1B silent H60H NM_053282 10-PANZPJ SH2D1B SYNONYMOUS SNP Somatic 2 0.127 SQHIGH 11 45 56 0 52 52 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 117157 1 162372547 162372547 34 ALL relapse snv TBX19 missense R173H NM_005149 10-PANZPJ TBX19 MISSENSE SNP Somatic 14 0.540 SQHIGH 20 22 42 0 51 51 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 9095 1 168262431 168262431 83 ALL relapse snv LAMB3 missense R889W NM_000228 10-PANZPJ LAMB3 MISSENSE SNP Somatic 14 0.540 SQHIGH 31 24 55 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 3914 1 209795917 209795917 118 ALL relapse snv INTS7 missense L711V NM_015434 10-PANZPJ INTS7 MISSENSE,UTR SNP Somatic -8 0.053 SQHIGH 5 9 14 0 11 11 A A C A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 25896 1 212139824 212139824 14 ALL relapse snv LYST missense R3509Q NM_000081 10-PANZPJ LYST MISSENSE SNP dbsnp.134:rs138936105 Somatic PFAM:PF00400:WD40 14 0.540 SQHIGH 30 28 58 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 1130 1 235860421 235860421 103 ALL relapse snv CHRM3 silent S386S NM_000740 10-PANZPJ CHRM3 SYNONYMOUS SNP dbsnp.132:rs117817656 Somatic 15 0.646 SQHIGH 29 30 59 0 57 57 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 1131 1 240071909 240071909 105 ALL relapse snv MYT1L-AS1 EXON E1_exon NM_015025 10-PANZPJ MYT1L|LOC730811 INTRON|UTR SNP Somatic 6 0.196 SQHIGH 17 35 52 0 68 68 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 23040|730811 2 2327803 2327803 69 ALL relapse snv MSH2 missense R524C NM_000251 10-PANZPJ MSH2 MISSENSE SNP Somatic PFAM:PF05190:MutS_IV 7 0.221 SQHIGH 15 0 15 0 40 40 Cosmic_Gene C T T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 4436 2 47693856 47693856 131 ALL relapse snv ALMS1 missense R144Q NM_015120 10-PANZPJ ALMS1 MISSENSE SNP Somatic -2 0.087 SQHIGH 5 8 13 0 20 20 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 7840 2 73635856 73635856 23 ALL relapse snv DNAH6 missense R1453C NM_001370 10-PANZPJ DNAH6 MISSENSE SNP Somatic 17 0.856 SQHIGH 17 18 35 0 26 26 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 1768 2 84852029 84852029 51 ALL relapse snv MRPS9 missense T331A NM_182640 10-PANZPJ MRPS9 MISSENSE SNP Somatic PFAM:PF00380:Ribosomal_S9 13 0.464 SQHIGH 17 28 45 0 38 38 A A G A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 64965 2 105713674 105713674 53 ALL relapse snv MGAT5 missense E385K NM_002410 10-PANZPJ MGAT5 MISSENSE SNP Somatic 20 1.000 SQHIGH 17 17 34 0 43 43 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 4249 2 135107416 135107416 73 ALL relapse snv IFIH1 missense A733V NM_022168 10-PANZPJ IFIH1 MISSENSE SNP Somatic -39 0.000 2 25 27 0 26 26 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 64135 2 163133303 163133303 6 ALL relapse snv CWC22 missense R41W NM_020943 10-PANZPJ CWC22 MISSENSE SNP Somatic 0 0.105 SQHIGH 9 38 47 0 35 35 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 57703 2 180851507 180851507 23 ALL relapse snv CARF missense R666Q NM_001104586 10-PANZPJ CARF MISSENSE SNP Somatic 13 0.464 SQHIGH 12 23 35 0 28 28 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 79800 2 203847102 203847102 35 ALL relapse snv PNKD missense R262P NM_015488 10-PANZPJ PNKD MISSENSE SNP Somatic PFAM:PF00753:Lactamase_B 15 0.646 SQHIGH 41 34 75 0 82 82 G G C G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 25953 2 219208226 219208226 166 ALL relapse snv VIL1 missense V698M NM_007127 10-PANZPJ VIL1 MISSENSE SNP Somatic PFAM:PF00626:Gelsolin 15 0.646 SQHIGH 39 23 62 0 57 57 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 7429 2 219301967 219301967 148 ALL relapse snv TRIP12 missense E1128Q NM_004238 10-PANZPJ TRIP12 MISSENSE SNP Somatic 16 0.722 SQHIGH 19 29 48 0 51 51 Cosmic_Gene C C G C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 9320 2 230662423 230662423 70 ALL relapse snv USP40 nonsense R1048* NM_018218 10-PANZPJ USP40 NONSENSE SNP Somatic 7 0.221 SQHIGH 18 22 40 1 44 45 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 55230 2 234398033 234398033 59 ALL relapse snv OXTR missense V341M NM_000916 10-PANZPJ OXTR MISSENSE SNP Somatic 4 0.154 SQHIGH 20 31 51 0 25 25 C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 5021 3 8794812 8794812 41 ALL relapse snv SLC6A1 silent G124G NM_003042 10-PANZPJ SLC6A1 SYNONYMOUS SNP Somatic PFAM:PF00209:SNF 14 0.540 SQHIGH 11 8 19 0 25 25 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 6529 3 11060285 11060285 50 ALL relapse snv PRICKLE2-AS3 EXON E1_exon NM_198859 10-PANZPJ PRICKLE2 INTRON SNP Somatic 15 0.646 SQHIGH 21 21 42 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 166336 3 64184777 64184777 71 ALL relapse snv FOXP1 silent T431T NM_032682 10-PANZPJ FOXP1 SYNONYMOUS SNP dbsnp.134:rs139997830 Somatic 16 0.722 SQHIGH 19 28 47 0 23 23 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 27086 3 71027034 71027034 40 ALL relapse snv EPHA6 missense W1007R NM_001080448 10-PANZPJ EPHA6 MISSENSE SNP Somatic PFAM:PF03109:ABC1 -9 0.049 SQHIGH 5 9 14 0 20 20 Cosmic_Gene T T A T T TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 285220 3 97454853 97454853 21 ALL relapse snv TIGIT missense R215Q NM_173799 10-PANZPJ TIGIT MISSENSE SNP Somatic 7 0.221 SQHIGH 7 27 34 0 51 51 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 201633 3 114026887 114026887 30 ALL relapse snv OSBPL11 silent S488S NM_022776 10-PANZPJ OSBPL11 SYNONYMOUS SNP Somatic PFAM:PF01237:Oxysterol_BP 3 0.140 SQHIGH 14 17 31 0 24 24 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 114885 3 125271215 125271215 42 ALL relapse snv ZBBX silent R632R NM_024687 10-PANZPJ ZBBX SYNONYMOUS SNP Somatic 17 0.856 SQHIGH 22 27 49 0 40 40 Cosmic_Gene T T C T T TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 79740 3 167000267 167000267 69 ALL relapse snv MFI2 silent A285A NM_005929 10-PANZPJ MFI2 SYNONYMOUS SNP Somatic PFAM:PF00405:Transferrin 13 0.464 SQHIGH 29 40 69 0 50 50 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 4241 3 196744019 196744019 83 ALL relapse snv JAKMIP1 silent H95H NM_001099433 10-PANZPJ JAKMIP1 SYNONYMOUS SNP Somatic 11 0.354 SQHIGH 24 23 47 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 152789 4 6107539 6107539 65 ALL relapse snv GABRB1 missense R411H NM_000812 10-PANZPJ GABRB1 MISSENSE SNP Somatic PFAM:PF02932:Neur_chan_memb 2 0.127 SQHIGH 17 15 32 0 23 23 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 2560 4 47427842 47427842 51 ALL relapse snv SCFD2 missense R617Q NM_152540 10-PANZPJ SCFD2 MISSENSE SNP dbsnp.134:rs141706393 Somatic PFAM:PF00995:Sec1 10 0.313 SQHIGH 35 44 79 1 82 83 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 152579 4 53752026 53752026 117 ALL relapse snv ANKRD17 splice_region G523_E8splice_region NM_032217 10-PANZPJ ANKRD17 INTRON SNP Somatic -1 0.096 SQHIGH 21 28 49 0 41 41 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 26057 4 74014523 74014523 66 ALL relapse snv FAT1 silent F2039F NM_005245 10-PANZPJ FAT1 SYNONYMOUS SNP Somatic 14 0.540 SQHIGH 9 18 27 0 33 33 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 2195 4 187541623 187541623 35 ALL relapse snv IRX4 silent Y89Y NM_016358 10-PANZPJ IRX4 SYNONYMOUS SNP Somatic 13 0.464 SQHIGH 30 29 59 0 52 52 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 50805 5 1881952 1881952 103 ALL relapse snv NSUN2 silent P381P NM_017755 10-PANZPJ NSUN2 SYNONYMOUS,UTR SNP Somatic PFAM:PF00398:RrnaAD -5 0.067 SQHIGH 4 22 26 0 34 34 Cosmic_Gene A A G A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 54888 5 6611151 6611151 15 ALL relapse snv SPEF2 nonsense R1113* NM_024867 10-PANZPJ SPEF2 NONSENSE SNP Somatic -7 0.058 SQHIGH 18 18 36 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 79925 5 35753732 35753732 67 ALL relapse snv RICTOR missense R325Q NM_152756 10-PANZPJ RICTOR MISSENSE SNP dbsnp.134:rs143280630 Somatic 15 0.646 SQHIGH 11 14 25 0 28 28 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 253260 5 38968131 38968131 42 ALL relapse snv CMYA5 silent S2859S NM_153610 10-PANZPJ CMYA5 SYNONYMOUS SNP Somatic 10 0.313 SQHIGH 22 37 59 1 72 73 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 202333 5 79033165 79033165 77 ALL relapse snv FBN2 missense R1473C NM_001999 10-PANZPJ FBN2 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 17 0.856 SQHIGH 17 20 37 0 38 38 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 2201 5 127664442 127664442 63 ALL relapse snv PCDHA4 missense A100S NM_018907 10-PANZPJ PCDHA4|PCDHA1|PCDHA3|PCDHA2 MISSENSE|INTRON|INTRON|INTRON SNP Somatic 5 0.170 SQHIGH 20 17 37 1 41 42 Cosmic_Gene G G T G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 56144|56147|56145|56146 5 140187070 140187070 70 ALL relapse snv PCDHB11 missense P539L NM_018931 10-PANZPJ PCDHB11 MISSENSE SNP Somatic 5 0.170 SQHIGH 7 5 12 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 56125 5 140580963 140580963 45 ALL relapse snv FBXO38 silent P920P NM_030793 10-PANZPJ FBXO38 SYNONYMOUS SNP dbsnp.134:rs144172824 Somatic 13 0.464 SQHIGH 15 17 32 0 44 44 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 81545 5 147818022 147818022 67 ALL relapse snv LRRC16A missense S1254T NM_017640 10-PANZPJ LRRC16A MISSENSE SNP Somatic 12 0.405 SQHIGH 15 18 33 0 33 33 Cosmic_Gene G G C G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 55604 6 25606415 25606415 54 ALL relapse snv UBD silent S29S NM_006398 10-PANZPJ UBD SYNONYMOUS SNP Somatic 12 0.405 SQHIGH 24 38 62 0 71 71 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 10537 6 29524068 29524068 92 ALL relapse snv NOTCH4 missense R585C NM_004557 10-PANZPJ NOTCH4 MISSENSE SNP dbsnp.134:rs150609093 Somatic PFAM:PF07645:EGF_CA 17 0.856 SQHIGH 29 13 42 0 38 38 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 4855 6 32184830 32184830 113 ALL relapse snv SRPK1 missense R578H NM_003137 10-PANZPJ SRPK1 MISSENSE,UTR SNP Somatic PFAM:PF03109:ABC1 11 0.354 SQHIGH 24 22 46 1 42 43 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 6732 6 35806164 35806164 74 ALL relapse snv ENPP4 missense G215S NM_014936 10-PANZPJ ENPP4 MISSENSE SNP Somatic PFAM:PF00884:Sulfatase 17 0.856 SQHIGH 20 28 48 0 58 58 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 22875 6 46107963 46107963 81 ALL relapse snv RNGTT missense R44Q NM_003800 10-PANZPJ RNGTT MISSENSE SNP Somatic 18 0.894 SQHIGH 12 17 29 0 28 28 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 8732 6 89650833 89650833 41 ALL relapse snv PTPRK missense C13S NM_001291983 10-PANZPJ PTPRK SYNONYMOUS SNP Somatic 13 0.464 SQHIGH 8 15 23 0 23 23 Cosmic_Gene C C G C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 5796 6 128718781 128718781 27 ALL relapse snv KIAA1244 missense T181M NM_020340 10-PANZPJ KIAA1244 MISSENSE SNP Somatic 19 0.951 SQHIGH 16 21 37 0 26 26 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 57221 6 138559767 138559767 45 ALL relapse snv SYNE1 silent R4518R NM_182961 10-PANZPJ SYNE1 SYNONYMOUS SNP dbsnp.132:rs115535983 Somatic 13 0.464 SQHIGH 17 27 44 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 23345 6 152652266 152652266 68 ALL relapse snv TULP4 silent P1120P NM_020245 10-PANZPJ TULP4 SYNONYMOUS,INTRON SNP Somatic 5 0.170 SQHIGH 30 34 64 1 52 53 Cosmic_Gene C C A C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 56995 6 158924055 158924055 84 ALL relapse snv THSD7A missense R544H NM_015204 10-PANZPJ THSD7A MISSENSE SNP Somatic -1 0.096 SQHIGH 25 23 48 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 221981 7 11581237 11581237 81 ALL relapse snv BMPER splice_region K360_E13splice_region NM_133468 10-PANZPJ BMPER ACCEPTOR SNP Somatic 10 0.313 SQHIGH 20 17 37 0 35 35 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 168667 7 34118465 34118465 73 ALL relapse snv ERV3-1 missense P219L NM_001007253 10-PANZPJ ERV3-1|ZNF117 MISSENSE|TSS-UPSTREAM SNP Somatic 13 0.464 SQHIGH 23 24 47 1 35 36 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 2086|51351 7 64452749 64452749 59 ALL relapse snv RELN nonsense R2560* NM_005045 10-PANZPJ RELN NONSENSE SNP Somatic 14 0.540 SQHIGH 30 36 66 0 66 66 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 5649 7 103159954 103159954 109 ALL relapse snv SVOPL silent R244R NM_001139456 10-PANZPJ SVOPL SYNONYMOUS SNP Somatic -7 0.058 SQHIGH 6 35 41 0 39 39 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 136306 7 138329519 138329519 18 ALL relapse snv MGAM missense R1635Q NM_004668 10-PANZPJ MGAM MISSENSE SNP Somatic 14 0.540 SQHIGH 13 23 36 0 40 40 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 8972 7 141795498 141795498 48 ALL relapse snv LOC100506585 EXON E12_exon NM_002847 10-PANZPJ PTPRN2|LOC100506585 INTRON|UTR SNP Somatic 7 0.221 SQHIGH 24 27 51 0 52 52 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 5799|100506585 7 157656734 157656734 89 ALL relapse snv TACC1 missense V149M NM_006283 10-PANZPJ TACC1 INTRON,UTR5,MISSENSE SNP Somatic 16 0.722 SQHIGH 31 35 66 0 49 49 COSMIC:mut:78601 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 6867 8 38677207 38677207 92 ALL relapse snv DCSTAMP silent F322F NM_030788 10-PANZPJ DCSTAMP SYNONYMOUS SNP Somatic PFAM:PF07782:DC_STAMP 1 0.116 SQHIGH 24 20 44 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 81501 8 105361746 105361746 100 ALL relapse snv ZHX2 silent P367P NM_014943 10-PANZPJ ZHX2 SYNONYMOUS SNP dbsnp.134:rs143007490 Somatic 13 0.464 SQHIGH 27 24 51 0 49 49 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 22882 8 123964851 123964851 99 ALL relapse snv GLIS3 missense S856L NM_001042413 10-PANZPJ GLIS3 MISSENSE SNP Somatic 6 0.196 SQHIGH 30 45 75 2 66 68 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 169792 9 3829399 3829399 77 ALL relapse snv BNC2 missense R1082W NM_017637 10-PANZPJ BNC2 MISSENSE SNP Somatic 5 0.170 SQHIGH 24 33 57 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 54796 9 16419043 16419043 84 ALL relapse snv BNC2 missense R428Q NM_017637 10-PANZPJ BNC2 MISSENSE SNP Somatic 15 0.646 SQHIGH 38 34 72 0 57 57 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 54796 9 16436909 16436909 122 ALL relapse snv ADAMTSL1 nonsense R816* NM_001040272 10-PANZPJ ADAMTSL1 NONSENSE SNP Somatic 17 0.856 SQHIGH 27 22 49 2 45 47 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 92949 9 18775789 18775789 77 ALL relapse snv TSC1 missense R1062Q NM_000368 10-PANZPJ TSC1 MISSENSE SNP Somatic 18 0.894 SQHIGH 16 17 33 0 25 25 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 7248 9 135771932 135771932 48 ALL relapse snv CTNNA3 missense D12N NM_013266 10-PANZPJ CTNNA3 MISSENSE SNP Somatic -3 0.079 SQHIGH 11 16 27 0 11 11 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 29119 10 69407238 69407238 20 ALL relapse snv ECD missense R247H NM_007265 10-PANZPJ ECD INTRON,MISSENSE SNP Somatic PFAM:PF07093:SGT1 9 0.277 SQHIGH 8 10 18 0 20 20 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 11319 10 74914057 74914057 30 ALL relapse snv NT5C2 missense R195Q NM_012229 10-PANZPJ NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 14 0.540 SQHIGH 20 23 43 0 31 31 C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 22978 10 104859732 104859732 58 ALL relapse snv DMBT1 missense R1350H NM_004406 10-PANZPJ DMBT1 MISSENSE SNP dbsnp.134:rs146475455 Somatic PFAM:PF00530:SRCR 4 0.154 SQHIGH 29 51 80 0 69 69 COSMIC:mut:86744 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 1755 10 124390771 124390771 91 ALL relapse snv FAM24A missense A23V NM_001029888 10-PANZPJ FAM24A MISSENSE SNP Somatic 9 0.277 SQHIGH 26 28 54 0 44 44 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 118670 10 124671218 124671218 83 ALL relapse snv LHPP silent D104D NM_022126 10-PANZPJ LHPP SYNONYMOUS SNP Somatic 13 0.464 SQHIGH 36 38 74 0 53 53 C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 64077 10 126172894 126172894 105 ALL relapse snv C10orf90 missense S543L NM_001004298 10-PANZPJ C10orf90 MISSENSE SNP Somatic -10 0.046 SQHIGH 14 5 19 0 12 12 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 118611 10 128150061 128150061 44 ALL relapse snv DOCK1 missense V1864M NM_001380 10-PANZPJ DOCK1 MISSENSE SNP Somatic 1 0.116 SQHIGH 17 33 52 1 45 46 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 1793 10 129249683 129249683 45 ALL relapse snv PRAP1 missense E96K NM_145202 10-PANZPJ PRAP1 MISSENSE SNP Somatic 5 0.170 SQHIGH 18 42 60 0 48 48 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 118471 10 135165774 135165774 52 ALL relapse snv MUC5B silent T1942T NM_002458 10-PANZPJ MUC5B SYNONYMOUS SNP Somatic 2 0.127 SQHIGH 25 23 48 1 45 46 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 727897 11 1263936 1263936 79 ALL relapse snv NUP98 missense R1561H NM_016320 10-PANZPJ NUP98 MISSENSE SNP Somatic PFAM:PF12110:Nup96 -2 0.087 SQHIGH 24 43 67 0 43 43 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 4928 11 3704666 3704666 60 ALL relapse snv MICAL2 missense R1008C NM_014632 10-PANZPJ MICAL2 MISSENSE SNP Somatic 15 0.646 SQHIGH 23 25 48 0 48 48 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 9645 11 12278398 12278398 84 ALL relapse snv NCR3LG1 missense F308V NM_001202439 10-PANZPJ NCR3LG1 MISSENSE SNP Somatic PFAM:PF01140:Gag_MA 15 0.646 SQHIGH 33 29 62 0 56 56 T T G T T TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 374383 11 17393616 17393616 117 ALL relapse snv IGSF22 missense R1085C NM_173588 10-PANZPJ IGSF22 MISSENSE SNP Somatic 15 0.646 SQHIGH 28 26 54 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 283284 11 18729378 18729378 105 ALL relapse snv MYBPC3 nonsense E258* NM_000256 10-PANZPJ MYBPC3 NONSENSE SNP Somatic 17 0.856 SQHIGH 33 27 60 0 56 56 Cosmic_Gene C C A C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 4607 11 47369975 47369975 121 ALL relapse snv TENM4 missense R2418Q NM_001098816 10-PANZPJ TENM4 MISSENSE SNP Somatic 13 0.464 SQHIGH 19 15 34 0 32 32 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 26011 11 78380137 78380137 70 ALL relapse snv PCF11 missense R882H NM_015885 10-PANZPJ PCF11 MISSENSE SNP Somatic PFAM:PF12782:Innate_immun 6 0.196 SQHIGH 15 47 62 0 78 78 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 51585 11 82880022 82880022 58 ALL relapse snv DSCAML1 missense R515C NM_020693 10-PANZPJ DSCAML1 MISSENSE SNP Somatic PFAM:PF00047:ig 16 0.722 SQHIGH 23 22 45 0 42 42 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 57453 11 117389328 117389328 82 ALL relapse snv ST14 missense A713V NM_021978 10-PANZPJ ST14 MISSENSE SNP Somatic -7 0.058 SQHIGH 13 16 29 0 17 17 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 6768 11 130078448 130078448 32 ALL relapse snv ST14 missense E718G NM_021978 10-PANZPJ ST14 MISSENSE SNP Somatic -1 0.096 SQHIGH 16 13 29 0 34 34 Cosmic_Gene A A G A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 6768 11 130078463 130078463 67 ALL relapse snv CACNA2D4 silent F163F NM_172364 10-PANZPJ CACNA2D4 SYNONYMOUS SNP Somatic PFAM:PF08399:VWA_N 6 0.196 SQHIGH 18 32 50 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 93589 12 2017201 2017201 54 ALL relapse snv ARID2 silent S989S NM_152641 10-PANZPJ ARID2 SYNONYMOUS SNP Somatic 11 0.354 SQHIGH 32 38 70 1 48 49 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 196528 12 46244873 46244873 78 ALL relapse snv RND1 silent S83S NM_014470 10-PANZPJ RND1 SYNONYMOUS SNP Somatic 16 0.722 SQHIGH 33 32 65 0 53 53 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 27289 12 49255861 49255861 107 ALL relapse snv BCDIN3D missense R105C NM_181708 10-PANZPJ LOC100286844|BCDIN3D INTRON,UTR|MISSENSE SNP Somatic 10 0.313 SQHIGH 19 21 40 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 100286844|144233 12 50232720 50232720 55 ALL relapse snv HOXC4 silent S5S NM_014620 10-PANZPJ FLJ12825|HOXC4 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 8 0.246 SQHIGH 14 20 34 0 20 20 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 440101|3221 12 54447721 54447721 34 ALL relapse snv ANKS1B missense D480E NM_152788 10-PANZPJ ANKS1B MISSENSE SNP Somatic 17 0.856 SQHIGH 19 17 36 0 49 49 A A T A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 56899 12 99837586 99837586 87 ALL relapse snv DHX37 silent P610P NM_032656 10-PANZPJ DHX37 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 3 0.140 SQHIGH 23 19 42 1 19 20 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 57647 12 125449155 125449155 40 ALL relapse snv EP400 silent P2330P NM_015409 10-PANZPJ EP400 SYNONYMOUS SNP dbsnp.134:rs138655605 Somatic 13 0.464 SQHIGH 19 15 34 0 23 23 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 57634 12 132530069 132530069 55 ALL relapse snv TBC1D4 missense R299Q NM_014832 10-PANZPJ TBC1D4 MISSENSE SNP Somatic -10 0.046 SQHIGH 7 52 59 0 62 62 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 9882 13 75936346 75936346 23 ALL relapse snv PRMT5 missense V415I NM_006109 10-PANZPJ RBM23|PRMT5 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00398:RrnaAD 10 0.313 SQHIGH 34 29 63 0 46 46 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 55147|10419 14 23393349 23393349 104 ALL relapse snv SYT16 silent C244C NM_031914 10-PANZPJ SYT16 SYNONYMOUS SNP Somatic 5 0.170 SQHIGH 39 40 79 1 76 77 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 83851 14 62536529 62536529 128 ALL relapse snv SYNE2 silent T9T NM_015180 10-PANZPJ SYNE2 SYNONYMOUS SNP Somatic 7 0.221 SQHIGH 11 24 35 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 23224 14 64375893 64375893 38 ALL relapse snv JAG2 missense P451L NM_002226 10-PANZPJ JAG2 INTRON,MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 14 0.540 SQHIGH 24 19 43 0 49 49 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 3714 14 105617357 105617357 100 ALL relapse snv GABRA5 missense V272M NM_000810 10-PANZPJ GABRA5 MISSENSE SNP Somatic PFAM:PF02932:Neur_chan_memb 5 0.170 SQHIGH 15 40 55 0 64 64 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 2558 15 27185161 27185161 55 ALL relapse snv AQR missense R482C NM_014691 10-PANZPJ AQR MISSENSE SNP Somatic 10 0.313 SQHIGH 16 22 38 0 31 31 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 9716 15 35207279 35207279 49 ALL relapse snv SEMA6D silent N461N NM_020858 10-PANZPJ SEMA6D SYNONYMOUS SNP Somatic PFAM:PF01403:Sema -10 0.046 SQHIGH 6 50 56 0 59 59 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 80031 15 48057209 48057209 19 ALL relapse snv ADAMTS7 silent P621P NM_014272 10-PANZPJ ADAMTS7 SYNONYMOUS SNP Somatic 6 0.196 SQHIGH 38 33 71 0 57 57 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 11173 15 79066979 79066979 124 ALL relapse snv CEMIP silent Y388Y NM_018689 10-PANZPJ CEMIP SYNONYMOUS SNP Somatic 16 0.722 SQHIGH 26 27 53 0 38 38 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 57214 15 81187408 81187408 76 ALL relapse snv ADAMTS17 silent N839N NM_139057 10-PANZPJ ADAMTS17 SYNONYMOUS SNP Somatic 15 0.646 SQHIGH 30 33 63 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 170691 15 100589136 100589136 100 ALL relapse snv TMC7 silent S387S NM_024847 10-PANZPJ TMC7 SYNONYMOUS SNP dbsnp.134:rs139910043 Somatic 15 0.646 SQHIGH 29 28 57 1 56 58 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 79905 16 19049351 19049351 95 ALL relapse snv C16orf62 silent S421S NM_020314 10-PANZPJ C16orf62 SYNONYMOUS SNP Somatic 12 0.405 SQHIGH 10 27 37 1 41 42 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 57020 16 19621710 19621710 28 ALL relapse snv RBBP6 silent S136S NM_006910 10-PANZPJ RBBP6 SYNONYMOUS SNP Somatic 11 0.354 SQHIGH 17 30 47 0 45 45 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 5930 16 24566995 24566995 57 ALL relapse snv DNAJA2 missense G79S NM_005880 10-PANZPJ DNAJA2 MISSENSE SNP Somatic 2 0.127 SQHIGH 12 29 41 1 26 27 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 10294 16 47005388 47005388 21 ALL relapse snv ITFG1 missense G576S NM_030790 10-PANZPJ ITFG1 MISSENSE SNP Somatic 1 0.116 SQHIGH 9 9 18 0 15 15 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 81533 16 47192837 47192837 29 ALL relapse snv CCL22 missense G28S NM_002990 10-PANZPJ CCL22 MISSENSE SNP Somatic 4 0.154 SQHIGH 10 16 26 0 22 22 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 6367 16 57394357 57394357 31 ALL relapse snv CHST4 silent P40P NM_005769 10-PANZPJ CHST4 SYNONYMOUS SNP dbsnp.134:rs143274002 Somatic 12 0.405 SQHIGH 19 30 49 1 42 43 C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 10164 16 71570700 71570700 50 ALL relapse snv PMFBP1 missense Q342H NM_031293 10-PANZPJ PMFBP1 MISSENSE SNP Somatic -6 0.063 SQHIGH 10 69 79 0 68 68 Cosmic_Gene C C A C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 83449 16 72170611 72170611 28 ALL relapse snv KLHDC4 silent A372A NM_017566 10-PANZPJ KLHDC4 SYNONYMOUS SNP Somatic 11 0.354 SQHIGH 28 2 30 0 45 45 Cosmic_Gene C T T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 54758 16 87743202 87743202 179 ALL relapse snv EPN2 missense T428N NM_148921 10-PANZPJ EPN2 MISSENSE SNP Somatic 17 0.856 SQHIGH 34 29 63 0 55 55 Cosmic_Gene C C A C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 22905 17 19235208 19235208 118 ALL relapse snv KSR1 missense V593I NM_014238 10-PANZPJ KSR1 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 6 0.196 SQHIGH 36 50 86 0 70 70 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 8844 17 25936252 25936252 111 ALL relapse snv APPBP2 missense R277W NM_006380 10-PANZPJ APPBP2 MISSENSE SNP Somatic -1 0.096 SQHIGH 7 13 20 0 17 17 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 10513 17 58539356 58539356 21 ALL relapse snv SHC2 splice_region Q370_E8splice_region NM_012435 10-PANZPJ SHC2 DONOR SNP Somatic 13 0.464 SQHIGH 15 9 24 0 19 19 G G T G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 25759 19 434706 434706 51 ALL relapse snv ADAMTSL5 nonsense R362* NM_213604 10-PANZPJ ADAMTSL5 NONSENSE SNP Somatic 18 0.894 SQHIGH 21 10 31 0 34 34 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 339366 19 1506619 1506619 91 ALL relapse snv TRIP10 nonsense R541* NM_004240 10-PANZPJ TRIP10 NONSENSE SNP Somatic 15 0.646 SQHIGH 19 17 36 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 9322 19 6751205 6751205 62 ALL relapse snv FBN3 missense E2675K NM_032447 10-PANZPJ FBN3 MISSENSE SNP Somatic 5 0.170 SQHIGH 20 46 66 1 67 68 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 84467 19 8136997 8136997 58 ALL relapse snv GIPC1 missense G144R NM_005716 10-PANZPJ GIPC1 MISSENSE SNP Somatic 8 0.246 SQHIGH 21 26 47 0 35 35 C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 10755 19 14591449 14591449 62 ALL relapse snv ZNF585B missense R53Q NM_152279 10-PANZPJ ZNF585B MISSENSE SNP Somatic 13 0.464 SQHIGH 19 28 47 0 37 37 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 92285 19 37680967 37680967 57 ALL relapse snv CATSPERG silent Y696Y NM_021185 10-PANZPJ CATSPERG SYNONYMOUS SNP Somatic 18 0.894 SQHIGH 14 19 33 1 39 40 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 57828 19 38852495 38852495 46 ALL relapse snv FCGBP missense V4929M NM_003890 10-PANZPJ FCGBP MISSENSE SNP Somatic PFAM:PF00094:VWD 11 0.354 SQHIGH 16 27 43 0 34 34 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 8857 19 40363285 40363285 47 ALL relapse snv ZC3H4 missense R341Q NM_015168 10-PANZPJ ZC3H4 MISSENSE SNP Somatic 2 0.127 SQHIGH 14 12 26 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 23211 19 47588398 47588398 64 ALL relapse snv NOSIP missense R296W NM_015953 10-PANZPJ NOSIP MISSENSE SNP Somatic -5 0.067 SQHIGH 17 22 39 0 18 18 Cosmic_Gene G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 51070 19 50059028 50059028 34 ALL relapse snv ZNF701 silent S146S NM_018260 10-PANZPJ ZNF701 SYNONYMOUS SNP Somatic 14 0.540 SQHIGH 27 18 45 0 50 50 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 55762 19 53085750 53085750 113 ALL relapse snv VN1R2 missense H74L NM_173856 10-PANZPJ ZNF677|VN1R2 TSS-UPSTREAM|MISSENSE SNP Somatic 3 0.140 SQHIGH 17 27 44 1 39 40 Cosmic_Gene A A T A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 342926|317701 19 53761849 53761849 45 ALL relapse snv SSC5D missense T1285M NM_001144950 10-PANZPJ SSC5D MISSENSE SNP Somatic -9 0.049 SQHIGH 17 20 37 0 36 36 C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 284297 19 56029497 56029497 60 ALL relapse snv ZSCAN1 silent P323P NM_182572 10-PANZPJ ZSCAN1 SYNONYMOUS SNP dbsnp.134:rs148203449 Somatic 10 0.313 SQHIGH 28 40 68 0 61 61 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 284312 19 58565161 58565161 92 ALL relapse snv PCED1A missense R242H NM_022760 10-PANZPJ VPS16|FAM113A TSS-UPSTREAM|MISSENSE SNP Somatic 6 0.196 SQHIGH 15 36 51 0 70 70 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 64601|64773 20 2818994 2818994 62 ALL relapse snv RBL1 missense R121H NM_002895 10-PANZPJ RBL1 MISSENSE SNP Somatic PFAM:PF11934:DUF3452 5 0.170 SQHIGH 9 12 21 0 19 19 Cosmic_Gene C C T C C TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 5933 20 35696518 35696518 30 ALL relapse snv SCAF4 nonsense R447* NM_020706 10-PANZPJ SCAF4 NONSENSE SNP Somatic 17 0.856 SQHIGH 20 22 42 0 42 42 G G A G G TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 57466 21 33065781 33065781 73 ALL diagnosis snv KIF1B silent Q1058Q NM_183416 10-PANZPJ KIF1B SYNONYMOUS,INTRON SNP Somatic 6 0.202 SQHIGH 26 36 62 0 51 51 Cosmic_Gene G G A G G TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 23095 1 10364417 10364417 81 ALL diagnosis snv PTPRU missense I375N NM_133178 10-PANZPJ PTPRU MISSENSE SNP Somatic 4 0.159 SQHIGH 10 20 30 0 29 29 Cosmic_Gene T T A T T TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 10076 1 29587395 29587395 33 ALL diagnosis snv FAM19A3 missense R128Q NM_001004440 10-PANZPJ FAM19A3 SYNONYMOUS,MISSENSE SNP Somatic PFAM:PF12020:TAFA 5 0.176 SQHIGH 25 38 63 1 61 62 G G A G G TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 284467 1 113266684 113266684 75 ALL diagnosis snv POGZ splice_region G849_E17splice_region NM_015100 10-PANZPJ POGZ INTRON SNP Somatic 7 0.228 SQHIGH 5 21 26 0 19 19 Cosmic_Gene T T C T T TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 23126 1 151379377 151379377 13 ALL diagnosis snv POGZ splice_region G849_E17splice_region NM_015100 10-PANZPJ POGZ DONOR SNP Somatic -6 0.064 SQHIGH 5 22 27 0 20 20 Cosmic_Gene A A T A A TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 23126 1 151379381 151379381 13 ALL diagnosis snv VIL1 missense V698M NM_007127 10-PANZPJ VIL1 MISSENSE SNP Somatic PFAM:PF00626:Gelsolin 7 0.228 SQHIGH 25 43 68 0 57 57 Cosmic_Gene G G A G G TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 7429 2 219301967 219301967 77 ALL diagnosis snv ZBBX silent R632R NM_024687 10-PANZPJ ZBBX SYNONYMOUS SNP Somatic 8 0.255 SQHIGH 26 34 60 0 40 40 Cosmic_Gene T T C T T TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 79740 3 167000267 167000267 70 ALL diagnosis snv TKTL2 missense R362C NM_032136 10-PANZPJ TKTL2 MISSENSE SNP Somatic 7 0.228 SQHIGH 21 47 68 0 53 53 Cosmic_Gene G G A G G TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 84076 4 164393803 164393803 60 ALL diagnosis snv DYNC1H1 silent Q1080Q NM_001376 10-PANZPJ DYNC1H1 SYNONYMOUS SNP Somatic 15 0.653 SQHIGH 26 30 56 0 40 40 Cosmic_Gene G G A G G TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 1778 14 102461093 102461093 75 ALL diagnosis snv SCAF4 nonsense R447* NM_020706 10-PANZPJ SCAF4 NONSENSE SNP Somatic 13 0.476 SQHIGH 18 23 41 0 42 42 G G A G G TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 57466 21 33065781 33065781 66 ALL relapse snv PANK4 silent G328G NM_018216 10-PANZXC PANK4 SYNONYMOUS SNP Somatic PFAM:PF00370:FGGY_N -6 0.078 SQHIGH 13 12 25 0 19 19 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55229 1 2450633 2450633 40 ALL relapse snv TP73 nonsense Q393* NM_001126242 10-PANZXC TP73 SYNONYMOUS,INTRON,NONSENSE SNP Somatic PFAM:PF07647:SAM_2 8 0.289 SQHIGH 12 23 35 0 45 45 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7161 1 3647618 3647618 49 ALL relapse snv WNT4 silent E245E NM_030761 10-PANZXC WNT4 SYNONYMOUS SNP dbsnp.134:rs149287527 Somatic PFAM:PF00110:wnt 8 0.289 SQHIGH 20 24 44 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 54361 1 22446864 22446864 54 ALL relapse snv ZDHHC18 splice S278_E6splice NM_032283 10-PANZXC ZDHHC18 ACCEPTOR SNP Somatic 0 0.130 SQHIGH 30 35 65 0 56 56 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84243 1 27177617 27177617 99 ALL relapse snv GPATCH3 missense E400K NM_022078 10-PANZXC GPATCH3|GPN2 MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs147776239 Somatic 17 0.854 SQHIGH 33 36 69 0 68 68 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 63906|54707 1 27219196 27219196 120 ALL relapse snv GPATCH3 missense R144Q NM_022078 10-PANZXC GPATCH3 MISSENSE SNP Somatic 14 0.583 SQHIGH 20 25 45 0 55 55 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 63906 1 27226503 27226503 82 ALL relapse snv GPATCH3 missense R137H NM_022078 10-PANZXC GPATCH3 MISSENSE SNP Somatic 13 0.509 SQHIGH 17 27 44 1 51 52 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 63906 1 27226524 27226524 56 ALL relapse snv GPATCH3 missense A61T NM_022078 10-PANZXC GPATCH3 MISSENSE SNP Somatic 8 0.289 SQHIGH 13 31 44 0 50 50 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 63906 1 27226753 27226753 48 ALL relapse snv SH3D21 missense P561L NM_001162530 10-PANZXC SH3D21 MISSENSE SNP Somatic 3 0.170 SQHIGH 24 28 52 0 38 38 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 79729 1 36785946 36785946 70 ALL relapse snv CCDC24 missense H15Y NM_152499 10-PANZXC CCDC24 MISSENSE SNP Somatic 0 0.130 SQHIGH 11 14 25 0 12 12 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 149473 1 44457593 44457593 23 ALL relapse snv TTC4 nonsense W35* NM_004623 10-PANZXC TTC4|HEATR8-TTC4 NONSENSE|INTRON SNP Somatic 0 0.130 SQHIGH 10 46 56 0 53 53 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7268|100527960 1 55181686 55181686 31 ALL relapse snv LRRC7 silent P1056P NM_020794 10-PANZXC LRRC7 SYNONYMOUS SNP dbsnp.134:rs140095753 Somatic 9 0.322 SQHIGH 25 20 45 1 73 74 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 57554 1 70504789 70504789 117 ALL relapse snv ABCA4 silent C1224C NM_000350 10-PANZXC ABCA4 SYNONYMOUS SNP Somatic 5 0.207 SQHIGH 28 45 73 0 75 75 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 24 1 94502842 94502842 100 ALL relapse snv POGZ missense R1211Q NM_015100 10-PANZXC POGZ MISSENSE SNP Somatic PFAM:PF03184:DDE_1 15 0.680 SQHIGH 28 26 54 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23126 1 151377879 151377879 79 ALL relapse snv TCHH nonsense R1277* NM_007113 10-PANZXC TCHH NONSENSE SNP Somatic 4 0.187 SQHIGH 12 14 26 0 14 14 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7062 1 152081864 152081864 28 ALL relapse snv HRNR missense R395C NM_001009931 10-PANZXC HRNR MISSENSE SNP dbsnp.134:rs144722087 Somatic 9 0.322 SQHIGH 29 33 62 0 46 46 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 388697 1 152192922 152192922 86 ALL relapse snv FLG missense G1034R NM_002016 10-PANZXC FLG MISSENSE SNP Somatic -2 0.109 SQHIGH 23 31 54 0 71 71 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2312 1 152284262 152284262 98 ALL relapse snv HAX1 splice S18_E2splice NM_006118 10-PANZXC HAX1 DISRUPT,INTRON SNP Somatic 10 0.356 SQHIGH 24 34 58 0 53 53 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10456 1 154245811 154245811 80 ALL relapse snv CLK2 missense V375A NM_003993 10-PANZXC SCAMP3|CLK2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03109:ABC1 5 0.207 SQHIGH 32 42 74 0 67 67 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10067|1196 1 155234278 155234278 107 ALL relapse snv TNN missense V953M NM_022093 10-PANZXC TNN MISSENSE SNP Somatic 15 0.680 SQHIGH 18 16 34 0 25 25 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 63923 1 175092742 175092742 55 ALL relapse snv SWT1 missense D455N NM_017673 10-PANZXC SWT1 MISSENSE SNP Somatic 3 0.170 SQHIGH 8 16 24 0 24 24 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 54823 1 185153997 185153997 27 ALL relapse snv HMCN1 missense R1572Q NM_031935 10-PANZXC HMCN1 MISSENSE SNP dbsnp.134:rs144433637 Somatic PFAM:PF00047:ig -3 0.099 SQHIGH 6 28 34 0 31 31 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 83872 1 185984375 185984375 18 ALL relapse snv HMCN1 silent T3572T NM_031935 10-PANZXC HMCN1 SYNONYMOUS SNP Somatic PFAM:PF00047:ig -2 0.109 SQHIGH 5 23 28 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 83872 1 186072746 186072746 17 ALL relapse snv CHIT1 splice_region G9_E1splice_region NM_003465 10-PANZXC CHIT1 INTRON SNP Somatic 16 0.752 SQHIGH 21 10 31 0 38 38 G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1118 1 203198733 203198733 98 ALL relapse snv DNAH14 missense R2528C NM_001373 10-PANZXC DNAH14 MISSENSE SNP Somatic PFAM:PF00485:PRK -5 0.083 SQHIGH 6 16 22 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 127602 1 225458497 225458497 26 ALL relapse snv TMEM63A silent I626I NM_014698 10-PANZXC TMEM63A SYNONYMOUS SNP Somatic PFAM:PF02714:DUF221 17 0.854 SQHIGH 33 35 68 0 61 61 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9725 1 226040390 226040390 113 ALL relapse snv MIR6741 EXON E3_exon NM_013328 10-PANZXC PYCR2 INTRON SNP Somatic 17 0.854 SQHIGH 36 29 65 0 70 70 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 29920 1 226109820 226109820 145 ALL relapse snv TRIM67 missense P117L NM_001004342 10-PANZXC TRIM67 MISSENSE SNP Somatic 4 0.187 SQHIGH 6 13 19 0 32 32 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 440730 1 231299065 231299065 28 ALL relapse snv NTPCR silent V53V NM_032324 10-PANZXC NTPCR SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 12 0.449 SQHIGH 15 0 15 1 34 35 Cosmic_Gene C T T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84284 1 233091427 233091427 111 ALL relapse snv PGBD2 silent I409I NM_170725 10-PANZXC PGBD2 SYNONYMOUS SNP Somatic 14 0.583 SQHIGH 20 4 24 0 47 47 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 267002 1 249212010 249212010 133 ALL relapse snv NBAS missense T2280M NM_015909 10-PANZXC NBAS MISSENSE SNP Somatic 14 0.583 SQHIGH 31 31 62 0 60 60 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 51594 2 15319113 15319113 113 ALL relapse snv NT5C1B silent L359L NM_001002006 10-PANZXC NT5C1B-RDH14|NT5C1B SYNONYMOUS|SYNONYMOUS SNP Somatic PFAM:PF06189:5-nucleotidase 9 0.322 SQHIGH 14 33 47 0 61 61 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100526794|93034 2 18764258 18764258 56 ALL relapse snv APOB silent S1621S NM_000384 10-PANZXC APOB SYNONYMOUS SNP Somatic 11 0.400 SQHIGH 24 32 56 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 338 2 21234877 21234877 85 ALL relapse snv AGBL5 silent G426G NM_021831 10-PANZXC AGBL5 SYNONYMOUS SNP Somatic PFAM:PF00246:Peptidase_M14 1 0.144 SQHIGH 8 35 43 1 63 64 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 60509 2 27278919 27278919 26 ALL relapse snv FOSL2 missense R306S NM_005253 10-PANZXC FOSL2 MISSENSE SNP Somatic 5 0.207 SQHIGH 18 43 61 0 51 51 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2355 2 28635252 28635252 53 ALL relapse snv FAM179A missense R358W NM_199280 10-PANZXC FAM179A MISSENSE SNP Somatic 7 0.260 SQHIGH 7 21 28 0 22 22 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 165186 2 29240047 29240047 19 ALL relapse snv ATP6V1E2 missense A218T NM_080653 10-PANZXC ATP6V1E2 MISSENSE SNP Somatic PFAM:PF00430:ATP-synt_B 13 0.509 SQHIGH 20 26 46 0 57 57 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 90423 2 46739199 46739199 83 ALL relapse snv MSH2 missense A266V NM_000251 10-PANZXC MSH2 MISSENSE SNP Somatic PFAM:PF05188:MutS_II 18 0.897 SQHIGH 11 12 23 0 24 24 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4436 2 47641412 47641412 41 ALL relapse snv MSH6 splice_region E209_E3splice_region NM_000179 10-PANZXC MSH6 DONOR SNP Somatic 4 0.187 SQHIGH 11 14 25 0 16 16 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2956 2 48023207 48023207 29 ALL relapse snv SPTBN1 silent A331A NM_003128 10-PANZXC SPTBN1 SYNONYMOUS SNP Somatic PFAM:PF00435:Spectrin 9 0.322 SQHIGH 15 28 43 0 49 49 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6711 2 54849553 54849553 56 ALL relapse snv SPTBN1 missense A1038V NM_003128 10-PANZXC SPTBN1 MISSENSE SNP Somatic 6 0.235 SQHIGH 22 28 50 0 28 28 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6711 2 54858297 54858297 52 ALL relapse snv ANTXR1 missense V241M NM_032208 10-PANZXC MIR3126|ANTXR1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF05587:Anth_Ig 9 0.322 SQHIGH 27 32 59 0 63 63 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100423030|84168 2 69329991 69329991 103 ALL relapse snv DNAH6 missense A1538V NM_001370 10-PANZXC DNAH6 MISSENSE SNP Somatic 8 0.289 SQHIGH 23 27 50 0 46 46 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1768 2 84861725 84861725 79 ALL relapse snv ARID5A silent C507C NM_212481 10-PANZXC ARID5A SYNONYMOUS SNP Somatic 17 0.854 SQHIGH 23 21 44 0 39 39 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10865 2 97217786 97217786 80 ALL relapse snv CNGA3 missense A190T NM_001298 10-PANZXC CNGA3 MISSENSE SNP Somatic 13 0.509 SQHIGH 26 24 50 0 60 60 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1261 2 99008328 99008328 110 ALL relapse snv IMP4 splice_region E103_E5splice_region NM_033416 10-PANZXC IMP4|CCDC115 ACCEPTOR|TSS-UPSTREAM SNP Somatic 14 0.583 SQHIGH 19 25 44 0 45 45 Cosmic_Gene G G T G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 92856|84317 2 131103134 131103134 69 ALL relapse snv METAP1D silent X336X NM_199227 10-PANZXC METAP1D SYNONYMOUS SNP Somatic 15 0.680 SQHIGH 31 23 54 0 52 52 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 254042 2 172945133 172945133 117 ALL relapse snv DLX2 silent P54P NM_004405 10-PANZXC DLX2 SYNONYMOUS SNP Somatic PFAM:PF12413:DLL_N 7 0.260 SQHIGH 10 17 27 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1746 2 172967105 172967105 39 ALL relapse snv TTC30A silent T355T NM_152275 10-PANZXC TTC30A SYNONYMOUS SNP Somatic 8 0.289 SQHIGH 24 32 56 0 66 66 T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 92104 2 178482365 178482365 96 ALL relapse snv ZNF804A missense R816T NM_194250 10-PANZXC ZNF804A MISSENSE SNP Somatic 9 0.322 SQHIGH 15 25 40 0 55 55 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 91752 2 185802570 185802570 64 ALL relapse snv PTH2R missense R143H NM_005048 10-PANZXC PTH2R MISSENSE SNP Somatic PFAM:PF00002:7tm_2 8 0.289 SQHIGH 21 22 43 1 35 36 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5746 2 209307105 209307105 57 ALL relapse snv IGFBP5 missense G259R NM_000599 10-PANZXC IGFBP5 MISSENSE SNP Somatic 0 0.130 SQHIGH 10 7 17 0 21 21 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3488 2 217541518 217541518 44 ALL relapse snv ZFAND2B missense D131N NM_138802 10-PANZXC ZFAND2B MISSENSE SNP Somatic PFAM:PF01428:zf-AN1 12 0.449 SQHIGH 26 40 66 1 46 47 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 130617 2 220072717 220072717 60 ALL relapse snv ABCB6 missense A57T NM_005689 10-PANZXC ABCB6 MISSENSE SNP Somatic -7 0.073 SQHIGH 11 11 22 0 21 21 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10058 2 220083227 220083227 39 ALL relapse snv ABCB6 silent F27F NM_005689 10-PANZXC ABCB6 SYNONYMOUS SNP Somatic 14 0.583 SQHIGH 29 25 54 1 55 56 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10058 2 220083315 220083315 99 ALL relapse snv ATG9A silent C493C NM_001077198 10-PANZXC ABCB6|ATG9A TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF04109:APG9 12 0.449 SQHIGH 27 27 54 0 53 53 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10058|79065 2 220088427 220088427 99 ALL relapse snv ATG9A silent I489I NM_001077198 10-PANZXC ABCB6|ATG9A TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF04109:APG9 11 0.400 SQHIGH 29 39 68 0 64 64 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10058|79065 2 220088439 220088439 100 ALL relapse snv ATG9A silent V485V NM_001077198 10-PANZXC ABCB6|ATG9A TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF04109:APG9 13 0.509 SQHIGH 32 41 73 0 68 68 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10058|79065 2 220088451 220088451 110 ALL relapse snv ATG9A missense H199Q NM_001077198 10-PANZXC ANKZF1|ATG9A TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF04109:APG9 10 0.356 SQHIGH 24 30 54 0 59 59 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55139|79065 2 220089496 220089496 92 ALL relapse snv DES missense D216N NM_001927 10-PANZXC DES MISSENSE SNP Somatic PFAM:PF00038:Filament 8 0.289 SQHIGH 10 23 33 0 46 46 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1674 2 220284979 220284979 42 ALL relapse snv DOCK10 missense Q1422R NM_014689 10-PANZXC DOCK10 MISSENSE SNP Somatic -7 0.073 SQHIGH 4 23 27 0 30 30 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55619 2 225668832 225668832 14 ALL relapse snv ANKMY1 missense S700P NM_016552 10-PANZXC ANKMY1 INTRON,MISSENSE SNP Somatic PFAM:PF12796:Ank_2 11 0.400 SQHIGH 22 27 49 0 69 69 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 51281 2 241448794 241448794 99 ALL relapse snv FGD5 missense E266D NM_152536 10-PANZXC FGD5 MISSENSE SNP Somatic 13 0.509 SQHIGH 25 30 55 0 65 65 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 152273 3 14861376 14861376 101 ALL relapse snv XIRP1 missense G511S NM_194293 10-PANZXC XIRP1 MISSENSE SNP Somatic PFAM:PF08043:Xin 15 0.680 SQHIGH 20 27 47 0 54 54 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 165904 3 39229406 39229406 78 ALL relapse snv XIRP1 missense G507D NM_194293 10-PANZXC XIRP1 MISSENSE SNP Somatic PFAM:PF08043:Xin 11 0.400 SQHIGH 17 23 40 0 57 57 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 165904 3 39229417 39229417 76 ALL relapse snv TCTA splice_region G72_E2splice_region NM_022171 10-PANZXC RHOA|TCTA TSS-UPSTREAM|ACCEPTOR SNP Somatic 9 0.322 SQHIGH 21 28 49 1 41 42 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 387|6988 3 49450479 49450479 56 ALL relapse snv RASSF1 missense G37S NM_007182 10-PANZXC RASSF1 TSS-UPSTREAM,UTR5,MISSENSE SNP Somatic 4 0.187 SQHIGH 11 12 23 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11186 3 50378128 50378128 47 ALL relapse snv ZMYND10 missense V126M NM_015896 10-PANZXC RASSF1|ZMYND10 TSS-UPSTREAM|MISSENSE SNP Somatic 8 0.289 SQHIGH 23 28 51 0 51 51 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11186|51364 3 50380872 50380872 83 ALL relapse snv CYB561D2 missense P69S NM_007022 10-PANZXC NPRL2|CYB561D2 TSS-UPSTREAM|MISSENSE SNP Somatic 13 0.509 SQHIGH 32 31 63 0 49 49 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10641|11068 3 50390711 50390711 101 ALL relapse snv DNAH1 silent S2566S NM_015512 10-PANZXC DNAH1 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 20 1.000 SQHIGH 18 19 37 0 37 37 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 25981 3 52415745 52415745 66 ALL relapse snv DNAH1 splice_region M3247_E61splice_region NM_015512 10-PANZXC DNAH1 INTRON SNP Somatic 14 0.583 SQHIGH 40 41 81 0 60 60 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 25981 3 52425078 52425078 121 ALL relapse snv STAB1 missense D1533V NM_015136 10-PANZXC STAB1 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 19 0.957 SQHIGH 17 19 36 0 41 41 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23166 3 52551600 52551600 68 ALL relapse snv STAB1 silent V1728V NM_015136 10-PANZXC STAB1 SYNONYMOUS SNP Somatic -2 0.109 SQHIGH 17 27 44 0 48 48 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23166 3 52553529 52553529 63 ALL relapse snv PBRM1 missense D1108N NM_018313 10-PANZXC PBRM1 MISSENSE SNP Somatic 7 0.260 SQHIGH 21 44 65 0 63 63 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55193 3 52613206 52613206 70 ALL relapse snv ROBO2 missense R815Q NM_001290039 10-PANZXC ROBO2 MISSENSE SNP Somatic 9 0.322 SQHIGH 22 16 38 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6092 3 77629201 77629201 73 ALL relapse snv VGLL3 silent H237H NM_016206 10-PANZXC VGLL3 SYNONYMOUS SNP Somatic 11 0.400 SQHIGH 20 27 47 0 45 45 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 389136 3 87017966 87017966 69 ALL relapse snv MORC1 missense R618H NM_014429 10-PANZXC MORC1 MISSENSE SNP Somatic 4 0.187 SQHIGH 8 12 20 0 23 23 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 27136 3 108724077 108724077 31 ALL relapse snv TMCC1 silent V571V NM_001017395 10-PANZXC TMCC1 SYNONYMOUS,UTR SNP Somatic PFAM:PF10267:Tmemb_cc2 5 0.207 SQHIGH 8 11 19 0 14 14 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23023 3 129370573 129370573 23 ALL relapse snv SOX14 missense R65H NM_004189 10-PANZXC SOX14 MISSENSE SNP Somatic 10 0.356 SQHIGH 11 15 26 0 44 44 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8403 3 137483820 137483820 54 ALL relapse snv SOX14 missense R126Q NM_004189 10-PANZXC SOX14 MISSENSE SNP Somatic -10 0.058 SQHIGH 8 7 15 0 22 22 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8403 3 137484003 137484003 38 ALL relapse snv PRR23B silent A53A NM_001013650 10-PANZXC PRR23B SYNONYMOUS SNP Somatic PFAM:PF10630:DUF2476 2 0.156 SQHIGH 16 14 30 1 44 45 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 389151 3 138739345 138739345 66 ALL relapse snv LXN silent T79T NM_020169 10-PANZXC GFM1|LXN INTRON|SYNONYMOUS SNP dbsnp.134:rs147857480 Somatic PFAM:PF06907:Latexin 0 0.130 SQHIGH 14 15 29 0 34 34 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 85476|56925 3 158387355 158387355 57 ALL relapse snv SKIL silent S96S NM_005414 10-PANZXC SKIL SYNONYMOUS SNP Somatic 9 0.322 SQHIGH 23 33 56 0 53 53 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6498 3 170078407 170078407 79 ALL relapse snv ECE2 missense R409W NM_014693 10-PANZXC ECE2 MISSENSE SNP Somatic 4 0.187 SQHIGH 7 14 21 0 15 15 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9718 3 184001627 184001627 19 ALL relapse snv EPHB3 missense A213T NM_004443 10-PANZXC EPHB3 MISSENSE SNP Somatic 6 0.235 SQHIGH 25 40 65 1 64 65 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2049 3 184290745 184290745 76 ALL relapse snv BCL6 silent N165N NM_001706 10-PANZXC BCL6|LOC100131635 SYNONYMOUS|INTRON SNP Somatic 12 0.449 SQHIGH 40 42 82 0 79 79 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 604|100131635 3 187447698 187447698 144 ALL relapse snv SH3BP2 missense P9S NM_003023 10-PANZXC SH3BP2 MISSENSE SNP Somatic 7 0.260 SQHIGH 25 4 29 0 68 68 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6452 4 2822369 2822369 186 ALL relapse snv CPZ missense R597S NM_001014447 10-PANZXC CPZ MISSENSE SNP Somatic -10 0.058 SQHIGH 4 19 23 0 48 48 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8532 4 8621176 8621176 20 ALL relapse snv ARAP2 missense I104M NM_015230 10-PANZXC ARAP2 MISSENSE SNP Somatic 16 0.752 SQHIGH 27 19 46 0 39 39 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 116984 4 36230797 36230797 94 ALL relapse snv ARAP2 missense L24F NM_015230 10-PANZXC ARAP2 MISSENSE SNP Somatic 15 0.680 SQHIGH 10 17 27 0 34 34 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 116984 4 36231039 36231039 40 ALL relapse snv RELL1 missense R35H NM_001085400 10-PANZXC RELL1 MISSENSE SNP Somatic 17 0.854 SQHIGH 35 25 60 0 43 43 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 768211 4 37651107 37651107 109 ALL relapse snv PHOX2B missense D182N NM_003924 10-PANZXC PHOX2B MISSENSE SNP Somatic -3 0.099 SQHIGH 6 18 24 0 28 28 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8929 4 41748225 41748225 22 ALL relapse snv WDFY3 silent I2362I NM_014991 10-PANZXC WDFY3 SYNONYMOUS SNP Somatic 14 0.583 SQHIGH 17 15 32 0 27 27 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23001 4 85654670 85654670 57 ALL relapse snv ADH1B missense A222V NM_000668 10-PANZXC ADH1B MISSENSE SNP Somatic 10 0.356 SQHIGH 14 15 29 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 125 4 100235141 100235141 55 ALL relapse snv ENPEP silent Y253Y NM_001977 10-PANZXC ENPEP SYNONYMOUS SNP Somatic 16 0.752 SQHIGH 15 23 38 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2028 4 111409811 111409811 50 ALL relapse snv SLC7A11 nonsense R126* NM_014331 10-PANZXC SLC7A11 NONSENSE SNP Somatic PFAM:PF01490:Aa_trans -7 0.073 SQHIGH 8 39 47 0 49 49 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23657 4 139157507 139157507 26 ALL relapse snv ZNF827 missense R410Q NM_178835 10-PANZXC ZNF827 MISSENSE SNP Somatic -7 0.073 SQHIGH 25 17 42 0 35 35 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 152485 4 146813432 146813432 87 ALL relapse snv RAPGEF2 missense P1426L NM_014247 10-PANZXC RAPGEF2 MISSENSE SNP Somatic 12 0.449 SQHIGH 16 25 41 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9693 4 160277113 160277113 50 ALL relapse snv TENM3 silent V2439V NM_001080477 10-PANZXC TENM3 SYNONYMOUS SNP Somatic 5 0.207 SQHIGH 10 20 30 0 21 21 G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55714 4 183717893 183717893 26 ALL relapse snv TRIML1 missense L51F NM_178556 10-PANZXC TRIML1 MISSENSE SNP Somatic 11 0.400 SQHIGH 26 32 58 0 99 99 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 339976 4 189060865 189060865 132 ALL relapse snv C5orf55 silent G112G NM_138464 10-PANZXC EXOC3|C5orf55 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 19 0.957 SQHIGH 14 11 25 0 40 40 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11336|116349 5 442602 442602 71 ALL relapse snv NSUN2 missense A333T NM_017755 10-PANZXC NSUN2 MISSENSE,UTR SNP Somatic PFAM:PF00398:RrnaAD 11 0.400 SQHIGH 16 6 22 0 20 20 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 54888 5 6616864 6616864 63 ALL relapse snv MARCH6 missense G543E NM_005885 10-PANZXC MARCH6 MISSENSE SNP Somatic 8 0.289 SQHIGH 17 22 39 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10299 5 10410325 10410325 59 ALL relapse snv ANKRD33B silent S289S NM_001164440 10-PANZXC ANKRD33B SYNONYMOUS SNP Somatic 5 0.207 SQHIGH 11 11 22 0 18 18 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 651746 5 10649607 10649607 35 ALL relapse snv SPEF2 missense A967S NM_024867 10-PANZXC SPEF2 MISSENSE SNP Somatic 20 1.000 SQHIGH 17 15 32 0 34 35 Cosmic_Gene G G T G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 79925 5 35712973 35712973 66 ALL relapse snv SNX18 missense L445H NM_001102575 10-PANZXC SNX18 MISSENSE SNP Somatic PFAM:PF03114:BAR 17 0.854 SQHIGH 13 17 30 0 34 34 T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 112574 5 53815116 53815116 50 ALL relapse snv CMYA5 missense A3318V NM_153610 10-PANZXC CMYA5 MISSENSE SNP Somatic 5 0.207 SQHIGH 19 37 56 0 70 70 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 202333 5 79034541 79034541 76 ALL relapse snv APC missense T1141A NM_000038 10-PANZXC APC MISSENSE SNP Somatic 3 0.170 SQHIGH 8 28 36 0 64 64 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 324 5 112174712 112174712 38 ALL relapse snv AFF4 missense Q864K NM_014423 10-PANZXC AFF4 MISSENSE SNP Somatic -2 0.109 SQHIGH 5 14 19 0 29 29 Cosmic_Gene G G T G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 27125 5 132227903 132227903 22 ALL relapse snv PCDHGB4 missense R639C NM_003736 10-PANZXC PCDHGA8|PCDHGA3|PCDHGB3|PCDHGA4|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 11 0.400 SQHIGH 19 5 24 1 37 38 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9708|56112|56102|56111|56104|56108|8641|56113|56110|56114|56109|56103 5 140769366 140769366 98 ALL relapse snv SYNPO missense I577M NM_007286 10-PANZXC SYNPO MISSENSE SNP Somatic 19 0.957 SQHIGH 34 0 34 0 52 52 Cosmic_Gene C G G C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11346 5 150029568 150029568 240 ALL relapse snv CTB-113P19.1 EXON E1_exon NM_003118 10-PANZXC SPARC INTRON SNP Somatic 19 0.957 SQHIGH 28 4 32 1 59 60 Cosmic_Gene G A A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6678 5 151066269 151066269 175 ALL relapse snv SLIT3 nonsense Q1046* NM_003062 10-PANZXC SLIT3 NONSENSE SNP Somatic PFAM:PF07645:EGF_CA -8 0.067 SQHIGH 5 28 33 1 78 79 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6586 5 168119652 168119652 21 ALL relapse snv SH3PXD2B missense R908K NM_001017995 10-PANZXC SH3PXD2B MISSENSE SNP Somatic 20 1.000 SQHIGH 26 4 30 1 64 65 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 285590 5 171765386 171765386 173 ALL relapse snv SH3PXD2B missense E899K NM_001017995 10-PANZXC SH3PXD2B MISSENSE SNP Somatic 11 0.400 SQHIGH 24 4 28 1 45 46 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 285590 5 171765414 171765414 136 ALL relapse snv SH3PXD2B silent P562P NM_001017995 10-PANZXC SH3PXD2B SYNONYMOUS SNP Somatic 17 0.854 SQHIGH 27 5 32 0 45 45 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 285590 5 171766423 171766423 153 ALL relapse snv RREB1 missense R697Q NM_001003699 10-PANZXC RREB1 MISSENSE SNP Somatic 3 0.170 SQHIGH 17 21 38 0 22 22 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6239 6 7230422 7230422 41 ALL relapse snv RREB1 missense R1673W NM_001003699 10-PANZXC RREB1 MISSENSE SNP Somatic 14 0.583 SQHIGH 24 23 47 1 49 50 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6239 6 7248989 7248989 81 ALL relapse snv ELOVL2 silent P227P NM_017770 10-PANZXC ELOVL2 SYNONYMOUS SNP Somatic PFAM:PF01151:ELO 19 0.957 SQHIGH 16 22 38 0 43 43 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 54898 6 10990020 10990020 62 ALL relapse snv JARID2-AS1 EXON E1_exon NM_004973 10-PANZXC LOC100506681|JARID2 UTR|INTRON SNP Somatic 8 0.289 SQHIGH 16 14 30 1 22 23 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100506681|3720 6 15248334 15248334 40 ALL relapse snv JARID2-AS1 EXON E1_exon NM_004973 10-PANZXC LOC100506681|JARID2 UTR|INTRON SNP Somatic -4 0.091 SQHIGH 12 12 24 0 16 16 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100506681|3720 6 15248340 15248340 33 ALL relapse snv NHLRC1 missense K373N NM_198586 10-PANZXC NHLRC1 MISSENSE SNP Somatic 6 0.235 SQHIGH 18 34 52 0 54 54 C C A C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 378884 6 18121719 18121719 64 ALL relapse snv MAS1L missense L235P NM_052967 10-PANZXC MAS1L MISSENSE SNP Somatic PFAM:PF00001:7tm_1 16 0.752 SQHIGH 39 28 67 1 52 53 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 116511 6 29454976 29454976 116 ALL relapse snv DHX16 splice_region K69_E1splice_region NM_003587 10-PANZXC DHX16 INTRON,DONOR SNP Somatic 15 0.680 SQHIGH 22 26 48 1 48 49 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8449 6 30640407 30640407 69 ALL relapse snv DHX16 missense F62Y NM_003587 10-PANZXC DHX16 INTRON,MISSENSE SNP Somatic 13 0.509 SQHIGH 18 28 46 0 49 49 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8449 6 30640434 30640434 66 ALL relapse snv TUBB missense L35P NM_001293212 10-PANZXC MDC1|TUBB TSS-UPSTREAM|INTRON SNP Somatic 16 0.752 SQHIGH 9 18 27 0 37 37 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9656|203068 6 30689759 30689759 38 ALL relapse snv VARS missense P157L NM_006295 10-PANZXC VARS MISSENSE SNP Somatic 2 0.156 SQHIGH 16 16 32 0 28 28 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7407 6 31760815 31760815 54 ALL relapse snv RXRB missense H29Y NM_021976 10-PANZXC HSD17B8|RXRB|SLC39A7 TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic 16 0.752 SQHIGH 23 13 36 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7923|6257|7922 6 33168169 33168169 82 ALL relapse snv ITPR3 silent P371P NM_002224 10-PANZXC ITPR3 SYNONYMOUS SNP Somatic PFAM:PF02815:MIR 10 0.356 SQHIGH 27 28 55 0 67 67 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3710 6 33631622 33631622 114 ALL relapse snv ITPR3 silent I1599I NM_002224 10-PANZXC ITPR3 SYNONYMOUS SNP Somatic 11 0.400 SQHIGH 15 26 41 0 44 44 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3710 6 33651805 33651805 55 ALL relapse snv ITPR3 nonsense Q1636* NM_002224 10-PANZXC ITPR3 NONSENSE SNP Somatic -1 0.119 SQHIGH 12 27 39 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3710 6 33651914 33651914 33 ALL relapse snv ITPR3 missense R1795W NM_002224 10-PANZXC ITPR3 MISSENSE SNP Somatic 8 0.289 SQHIGH 13 20 33 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3710 6 33653211 33653211 48 ALL relapse snv ITPR3 splice_region Q2059_E45splice_region NM_002224 10-PANZXC ITPR3 INTRON SNP Somatic 6 0.235 SQHIGH 20 41 61 1 60 61 Cosmic_Gene C C A C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3710 6 33655114 33655114 57 ALL relapse snv PI16 missense R84S NM_153370 10-PANZXC PI16 MISSENSE SNP Somatic 13 0.509 SQHIGH 11 14 25 1 38 39 C C A C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 221476 6 36926999 36926999 43 ALL relapse snv DNAH8 silent V2354V NM_001206927 10-PANZXC DNAH8 SYNONYMOUS SNP Somatic PFAM:PF07728:AAA_5 -2 0.109 SQHIGH 6 32 38 0 33 33 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1769 6 38840383 38840383 17 ALL relapse snv MEI4 missense A141V NM_001282136 10-PANZXC SNP Somatic 9 0.322 SQHIGH 19 23 42 0 47 47 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6 78471036 78471036 74 ALL relapse snv SMPD2 silent P268P NM_003080 10-PANZXC PPIL6|SMPD2 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF03372:Exo_endo_phos 6 0.235 SQHIGH 19 22 41 1 50 51 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 285755|6610 6 109764544 109764544 68 ALL relapse snv SMPD2 missense H283Y NM_003080 10-PANZXC PPIL6|SMPD2 TSS-UPSTREAM|MISSENSE SNP Somatic 9 0.322 SQHIGH 18 23 41 0 37 37 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 285755|6610 6 109764587 109764587 60 ALL relapse snv AKAP12 missense R537T NM_005100 10-PANZXC AKAP12 MISSENSE SNP Somatic 14 0.583 SQHIGH 40 40 80 0 105 105 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9590 6 151671136 151671136 178 ALL relapse snv TTYH3 splice_region V136_E4splice_region NM_025250 10-PANZXC TTYH3 ACCEPTOR SNP Somatic 10 0.356 SQHIGH 11 5 16 0 23 23 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 80727 7 2687048 2687048 56 ALL relapse snv AMZ1 silent K168K NM_133463 10-PANZXC AMZ1 SYNONYMOUS SNP Somatic PFAM:PF07998:Peptidase_M54 15 0.680 SQHIGH 20 3 23 0 52 52 G A A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 155185 7 2748253 2748253 147 ALL relapse snv PMS2 nonsense S270* NM_000535 10-PANZXC PMS2 NONSENSE,UTR SNP Somatic 19 0.957 SQHIGH 24 0 24 0 56 56 Cosmic_Gene G C C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5395 7 6035259 6035259 202 ALL relapse snv GRID2IP splice_region G519_E9splice_region NM_001145118 10-PANZXC GRID2IP DONOR SNP Somatic 18 0.897 SQHIGH 20 5 25 0 56 56 C C A C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 392862 7 6550534 6550534 139 ALL relapse snv GRID2IP nonsense Q446* NM_001145118 10-PANZXC GRID2IP NONSENSE SNP Somatic 5 0.207 SQHIGH 11 4 15 0 22 22 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 392862 7 6554093 6554093 58 ALL relapse snv THSD7A missense P259S NM_015204 10-PANZXC THSD7A MISSENSE SNP Somatic -10 0.058 SQHIGH 4 22 26 0 62 62 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 221981 7 11676004 11676004 22 ALL relapse snv POU6F2 missense M110R NM_007252 10-PANZXC POU6F2 MISSENSE SNP Somatic -9 0.062 SQHIGH 6 5 11 1 19 20 Cosmic_Gene T T G T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11281 7 39247037 39247037 24 ALL relapse snv EGFR-AS1 EXON E20_exon NM_005228 10-PANZXC EGFR|LOC100507500 INTRON|UTR SNP Somatic -6 0.078 SQHIGH 8 70 78 0 56 56 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1956|100507500 7 55249399 55249399 19 ALL relapse snv NUPR1L missense A73V NM_001145712 10-PANZXC NUPR1L MISSENSE SNP Somatic PFAM:PF10195:Phospho_p8 -5 0.083 SQHIGH 6 12 18 0 17 17 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 389493 7 56183790 56183790 19 ALL relapse snv ELN missense A713T NM_000501 10-PANZXC ELN MISSENSE SNP Somatic 15 0.680 SQHIGH 20 18 38 0 35 35 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2006 7 73482992 73482992 71 ALL relapse snv ELN missense C714Y NM_000501 10-PANZXC ELN MISSENSE SNP Somatic 15 0.680 SQHIGH 16 21 37 0 38 38 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2006 7 73482996 73482996 58 ALL relapse snv RPL13AP17 EXON E7_exon NM_012301 10-PANZXC RPL13AP17|MAGI2 UTR|INTRON SNP Somatic 17 0.854 SQHIGH 17 14 32 0 36 36 Cosmic_Gene G G T G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 399670|9863 7 77988714 77988714 71 ALL relapse snv BHLHA15 missense E55K NM_177455 10-PANZXC BHLHA15 MISSENSE SNP Somatic 3 0.170 SQHIGH 10 7 17 0 19 19 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 168620 7 97841784 97841784 41 ALL relapse snv ZNF3 missense Y59H NM_017715 10-PANZXC ZNF3 MISSENSE SNP Somatic 2 0.156 SQHIGH 8 27 35 0 69 69 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7551 7 99672854 99672854 40 ALL relapse snv MCM7 missense A598V NM_005916 10-PANZXC MIR93|MIR25|MCM7|MIR106B TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00485:PRK 13 0.509 SQHIGH 11 17 28 0 26 26 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 407050|407014|4176|406900 7 99691851 99691851 36 ALL relapse snv MBLAC1 missense V258I NM_203397 10-PANZXC MBLAC1 MISSENSE SNP Somatic -1 0.119 SQHIGH 15 19 34 1 22 23 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 255374 7 99725790 99725790 31 ALL relapse snv GPC2 missense H98Y NM_152742 10-PANZXC STAG3|GPC2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01153:Glypican 11 0.400 SQHIGH 13 21 34 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10734|221914 7 99773863 99773863 43 ALL relapse snv TSC22D4 nonsense Q192* NM_030935 10-PANZXC TSC22D4 NONSENSE SNP Somatic 7 0.260 SQHIGH 18 11 29 0 24 24 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 81628 7 100075088 100075088 63 ALL relapse snv TSC22D4 silent L130L NM_030935 10-PANZXC TSC22D4 SYNONYMOUS SNP Somatic 9 0.322 SQHIGH 15 7 22 0 17 17 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 81628 7 100075274 100075274 52 ALL relapse snv NYAP1 missense S55T NM_173564 10-PANZXC NYAP1 MISSENSE SNP Somatic 7 0.260 SQHIGH 25 39 64 0 60 60 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 222950 7 100084538 100084538 84 ALL relapse snv NYAP1 missense R75H NM_173564 10-PANZXC NYAP1 MISSENSE SNP Somatic 9 0.322 SQHIGH 23 26 49 0 49 49 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 222950 7 100084599 100084599 84 ALL relapse snv NYAP1 silent L448L NM_173564 10-PANZXC NYAP1 SYNONYMOUS SNP Somatic 4 0.187 SQHIGH 10 10 20 0 19 19 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 222950 7 100086688 100086688 35 ALL relapse snv AGFG2 missense V330I NM_006076 10-PANZXC AGFG2 MISSENSE SNP Somatic 13 0.509 SQHIGH 17 26 43 0 43 43 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3268 7 100159992 100159992 60 ALL relapse snv GIGYF1 missense A590V NM_022574 10-PANZXC GIGYF1 MISSENSE SNP Somatic 14 0.583 SQHIGH 16 20 36 0 32 32 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 64599 7 100281742 100281742 53 ALL relapse snv GIGYF1 missense R154C NM_022574 10-PANZXC GIGYF1 MISSENSE SNP Somatic 13 0.509 SQHIGH 14 12 26 0 25 25 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 64599 7 100284943 100284943 51 ALL relapse snv SRRT silent A757A NM_015908 10-PANZXC SRRT SYNONYMOUS SNP Somatic PFAM:PF04959:ARS2 16 0.752 SQHIGH 20 26 46 0 61 61 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 51593 7 100485425 100485425 86 ALL relapse snv GPR37 silent P183P NM_005302 10-PANZXC GPR37 SYNONYMOUS SNP Somatic 16 0.752 SQHIGH 18 19 37 0 51 51 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2861 7 124404482 124404482 81 ALL relapse snv CCDC136 missense Q956H NM_022742 10-PANZXC CCDC136 INTRON,MISSENSE SNP Somatic 18 0.897 SQHIGH 19 18 37 0 25 25 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 64753 7 128454796 128454796 54 ALL relapse snv REPIN1 missense R423H NM_013400 10-PANZXC REPIN1 MISSENSE SNP Somatic 4 0.187 SQHIGH 8 17 25 1 28 29 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 29803 7 150069598 150069598 22 ALL relapse snv GIMAP8 missense C166Y NM_175571 10-PANZXC GIMAP8 MISSENSE SNP Somatic 12 0.449 SQHIGH 23 20 43 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 155038 7 150164283 150164283 101 ALL relapse snv GIMAP8 missense E353K NM_175571 10-PANZXC GIMAP8 MISSENSE SNP Somatic -10 0.058 SQHIGH 12 20 32 0 20 20 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 155038 7 150171474 150171474 30 ALL relapse snv GIMAP7 missense E211K NM_153236 10-PANZXC GIMAP7 MISSENSE SNP Somatic 4 0.187 SQHIGH 9 19 28 0 31 31 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 168537 7 150217693 150217693 33 ALL relapse snv ANK1 missense E1097K NM_020476 10-PANZXC ANK1 MISSENSE SNP Somatic 12 0.449 SQHIGH 13 22 35 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 286 8 41552148 41552148 46 ALL relapse snv UG0898H09 EXON E5_exon NM_173688 10-PANZXC NKAIN3|UG0898H09 INTRON|UTR SNP Somatic 11 0.400 SQHIGH 22 19 41 1 39 40 A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 286183|643763 8 63890757 63890757 70 ALL relapse snv PKHD1L1 missense N2003I NM_177531 10-PANZXC PKHD1L1 MISSENSE SNP Somatic -4 0.091 SQHIGH 10 11 21 0 17 17 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 93035 8 110460603 110460603 31 ALL relapse snv COL14A1 missense G1408E NM_021110 10-PANZXC COL14A1 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin 19 0.957 SQHIGH 17 20 37 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7373 8 121301992 121301992 66 ALL relapse snv PLEC silent T3675T NM_000445 10-PANZXC PLEC SYNONYMOUS SNP Somatic 7 0.260 SQHIGH 21 20 41 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5339 8 144993045 144993045 62 ALL relapse snv SLC52A2 missense A355V NM_024531 10-PANZXC FBXL6|GPR172A TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF06237:DUF1011 10 0.356 SQHIGH 10 9 19 0 23 23 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 26233|79581 8 145584312 145584312 42 ALL relapse snv DMRT2 silent D56D NM_006557 10-PANZXC DMRT2 SYNONYMOUS SNP Somatic 4 0.187 SQHIGH 7 23 30 0 29 29 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10655 9 1051781 1051781 22 ALL relapse snv TUSC1 missense R143T NM_001004125 10-PANZXC TUSC1 MISSENSE SNP Somatic 15 0.680 SQHIGH 14 16 30 0 28 28 C C G C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 286319 9 25677892 25677892 48 ALL relapse snv PTAR1 splice_region R316_E7splice_region NM_001099666 10-PANZXC PTAR1 ACCEPTOR SNP Somatic 11 0.400 SQHIGH 24 26 50 2 57 59 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 375743 9 72333604 72333604 76 ALL relapse snv IARS missense R519H NM_002161 10-PANZXC IARS MISSENSE SNP dbsnp.134:rs147238476 Somatic -2 0.109 SQHIGH 8 38 46 0 33 33 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3376 9 95027355 95027355 20 ALL relapse snv PTRH1 silent L192L NM_001002913 10-PANZXC PTRH1|TTC16 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -2 0.109 SQHIGH 17 24 41 0 41 41 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 138428|158248 9 130476450 130476450 60 ALL relapse snv TOR2A missense P81S NM_001085347 10-PANZXC TOR2A INTRON,MISSENSE SNP Somatic PFAM:PF00485:PRK 8 0.289 SQHIGH 30 21 51 0 45 45 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 27433 9 130496754 130496754 108 ALL relapse snv ENG missense S464F NM_001114753 10-PANZXC ENG MISSENSE SNP Somatic PFAM:PF00100:Zona_pellucida 7 0.260 SQHIGH 22 15 37 0 33 33 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2022 9 130581032 130581032 80 ALL relapse snv ENG splice_region H379_E9splice_region NM_001114753 10-PANZXC ENG ACCEPTOR SNP dbsnp.134:rs79426098 Somatic 13 0.509 SQHIGH 17 26 43 0 30 30 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2022 9 130582324 130582324 46 ALL relapse snv PRRC2B missense P1232A NM_013318 10-PANZXC PRRC2B MISSENSE SNP Somatic 12 0.449 SQHIGH 16 27 43 0 55 55 Cosmic_Gene C C G C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84726 9 134351210 134351210 66 ALL relapse snv UCK1 silent T188T NM_031432 10-PANZXC UCK1 SYNONYMOUS,INTRON SNP Somatic 17 0.854 SQHIGH 31 30 61 0 50 50 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 83549 9 134404370 134404370 101 ALL relapse snv PPP1R26 missense A228T NM_014811 10-PANZXC PPP1R26 MISSENSE SNP Somatic 16 0.752 SQHIGH 31 29 60 0 69 69 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9858 9 138377038 138377038 127 ALL relapse snv PPP1R26 missense A353V NM_014811 10-PANZXC PPP1R26 MISSENSE SNP dbsnp.134:rs149526868 Somatic 9 0.322 SQHIGH 16 24 40 1 46 47 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9858 9 138377414 138377414 52 ALL relapse snv SNAPC4 missense H475Y NM_003086 10-PANZXC SNAPC4 MISSENSE SNP Somatic 15 0.680 SQHIGH 14 21 35 0 48 48 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6621 9 139278482 139278482 61 ALL relapse snv SNAPC4 splice_region G474_E14splice_region NM_003086 10-PANZXC SNAPC4 ACCEPTOR SNP Somatic 8 0.289 SQHIGH 9 21 30 0 38 38 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6621 9 139278493 139278493 35 ALL relapse snv SDCCAG3 missense P218L NM_001039707 10-PANZXC SDCCAG3|PMPCA MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.130 SQHIGH 21 23 44 0 52 52 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10807|23203 9 139301763 139301763 86 ALL relapse snv PMPCA missense V78L NM_015160 10-PANZXC SDCCAG3|PMPCA TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00675:Peptidase_M16 9 0.322 SQHIGH 13 34 47 0 57 57 G G T G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10807|23203 9 139306609 139306609 49 ALL relapse snv RABL6 silent F218F NM_024718 10-PANZXC RABL6 SYNONYMOUS SNP Somatic PFAM:PF02263:GBP 6 0.235 SQHIGH 31 40 71 0 71 71 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55684 9 139726771 139726771 112 ALL relapse snv CACNA1B silent F549F NM_000718 10-PANZXC CACNA1B SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans 2 0.156 SQHIGH 22 16 38 0 40 40 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 774 9 140870462 140870462 88 ALL relapse snv HSPA14 missense S61P NM_016299 10-PANZXC HSPA14|CDNF MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00012:HSP70 5 0.207 SQHIGH 8 10 18 0 13 13 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 51182|441549 10 14882116 14882116 23 ALL relapse snv NRP1 missense A303V NM_003873 10-PANZXC NRP1 MISSENSE SNP Somatic 3 0.170 SQHIGH 8 19 27 0 44 44 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8829 10 33543029 33543029 37 ALL relapse snv GDF10 missense P268A NM_004962 10-PANZXC GDF10 MISSENSE SNP Somatic -7 0.073 SQHIGH 7 41 48 0 43 43 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2662 10 48429084 48429084 20 ALL relapse snv CDH23 missense S944G NM_022124 10-PANZXC CDH23 MISSENSE SNP Somatic 13 0.509 SQHIGH 14 10 24 0 24 24 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 64072 10 73464764 73464764 54 ALL relapse snv FUT11 missense E291K NM_173540 10-PANZXC FUT11 MISSENSE SNP dbsnp.134:rs148722357 Somatic PFAM:PF00852:Glyco_transf_10 -2 0.109 SQHIGH 21 28 49 0 45 45 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 170384 10 75533110 75533110 71 ALL relapse snv FUT11 missense E402K NM_173540 10-PANZXC FUT11 MISSENSE SNP Somatic 2 0.156 SQHIGH 11 12 23 1 23 24 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 170384 10 75533443 75533443 32 ALL relapse snv LDB3 missense R568H NM_007078 10-PANZXC LDB3 MISSENSE SNP Somatic 10 0.356 SQHIGH 10 25 35 0 35 35 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11155 10 88477747 88477747 33 ALL relapse snv LIPM missense D344Y NM_001128215 10-PANZXC ANKRD22|LIPM UTR3|MISSENSE SNP Somatic 14 0.583 SQHIGH 14 20 34 0 43 43 Cosmic_Gene G G T G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 118932|340654 10 90580016 90580016 58 ALL relapse snv TLL2 missense E698Q NM_012465 10-PANZXC TLL2 MISSENSE SNP Somatic -1 0.119 SQHIGH 25 18 43 0 47 47 Cosmic_Gene C C G C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7093 10 98144446 98144446 103 ALL relapse snv TLL2 silent G503G NM_012465 10-PANZXC TLL2 SYNONYMOUS SNP Somatic 10 0.356 SQHIGH 27 34 61 3 59 62 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7093 10 98155653 98155653 68 ALL relapse snv ABCC2 missense D1468G NM_000392 10-PANZXC ABCC2 MISSENSE SNP Somatic -7 0.073 SQHIGH 5 35 40 0 46 46 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1244 10 101610448 101610448 17 ALL relapse snv C10orf2 missense A546T NM_021830 10-PANZXC C10orf2|MRPL43 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00485:PRK 17 0.854 SQHIGH 32 37 69 0 75 75 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 56652|84545 10 102750669 102750669 124 ALL relapse snv LZTS2 missense S595N NM_032429 10-PANZXC LZTS2 MISSENSE SNP Somatic PFAM:PF06818:Fez1 14 0.583 SQHIGH 13 21 34 0 43 43 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84445 10 102766699 102766699 53 ALL relapse snv TRIM8 silent V225V NM_030912 10-PANZXC TRIM8 SYNONYMOUS SNP Somatic 17 0.854 SQHIGH 31 31 62 0 66 66 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 81603 10 104414845 104414845 120 ALL relapse snv PSMD13 missense G6S NM_002817 10-PANZXC SIRT3|PSMD13 TSS-UPSTREAM|MISSENSE SNP Somatic 3 0.170 SQHIGH 9 18 27 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23410|5719 11 237065 237065 32 ALL relapse snv OSBPL5 silent L403L NM_020896 10-PANZXC OSBPL5 SYNONYMOUS SNP Somatic PFAM:PF01237:Oxysterol_BP 11 0.400 SQHIGH 23 18 41 0 45 45 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 114879 11 3125458 3125458 94 ALL relapse snv CHRNA10 silent G140G NM_020402 10-PANZXC CHRNA10 SYNONYMOUS SNP Somatic PFAM:PF02931:Neur_chan_LBD 17 0.854 SQHIGH 11 11 22 0 24 24 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 57053 11 3688937 3688937 43 ALL relapse snv NUP98 silent L1742L NM_016320 10-PANZXC NUP98|CHRNA10 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 17 0.854 SQHIGH 17 20 37 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4928|57053 11 3697568 3697568 79 ALL relapse snv MDK missense C45Y NM_001012334 10-PANZXC MDK MISSENSE SNP Somatic PFAM:PF05196:PTN_MK_N 5 0.207 SQHIGH 10 17 27 0 23 23 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4192 11 46403901 46403901 31 ALL relapse snv MADD missense S597N NM_130470 10-PANZXC MADD MISSENSE SNP Somatic 9 0.322 SQHIGH 8 9 17 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8567 11 47304448 47304448 40 ALL relapse snv MYBPC3 splice_region T274_E7splice_region NM_000256 10-PANZXC MYBPC3 INTRON SNP Somatic 14 0.583 SQHIGH 17 23 40 0 34 34 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4607 11 47369399 47369399 54 ALL relapse snv SPI1 missense D185N NM_001080547 10-PANZXC MYBPC3|SPI1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00178:Ets 3 0.170 SQHIGH 9 9 18 0 16 16 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4607|6688 11 47377041 47377041 30 ALL relapse snv C1QTNF4 silent S288S NM_031909 10-PANZXC C1QTNF4 SYNONYMOUS SNP Somatic PFAM:PF00386:C1q -8 0.067 SQHIGH 9 6 15 0 11 11 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 114900 11 47611499 47611499 28 ALL relapse snv AGBL2 missense Y554F NM_024783 10-PANZXC AGBL2 MISSENSE SNP Somatic 20 1.000 SQHIGH 14 22 36 0 47 47 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 79841 11 47707572 47707572 58 ALL relapse snv AGBL2 silent L552L NM_024783 10-PANZXC AGBL2 SYNONYMOUS SNP Somatic 13 0.509 SQHIGH 11 24 35 0 50 50 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 79841 11 47707579 47707579 47 ALL relapse snv OR4X1 missense G202S NM_001004726 10-PANZXC OR4X1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 15 0.680 SQHIGH 18 18 36 0 33 33 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 390113 11 48286016 48286016 63 ALL relapse snv LPXN splice_region A63_E3splice_region NM_001143995 10-PANZXC LPXN ACCEPTOR SNP Somatic -3 0.099 SQHIGH 8 26 34 0 21 21 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9404 11 58331681 58331681 18 ALL relapse snv ATG2A missense A1936V NM_015104 10-PANZXC MIR194-2|ATG2A|MIR192 TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic 14 0.583 SQHIGH 10 16 26 0 33 33 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 406970|23130|406967 11 64662455 64662455 41 ALL relapse snv ATG2A silent L1838L NM_015104 10-PANZXC MIR194-2|ATG2A|MIR192 TSS-UPSTREAM|SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF09333:ATG_C -4 0.091 SQHIGH 12 11 23 0 19 19 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 406970|23130|406967 11 64662830 64662830 39 ALL relapse snv ATG2A silent L558L NM_015104 10-PANZXC MIR6750 SYNONYMOUS SNP Somatic 12 0.449 SQHIGH 20 23 43 0 46 46 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23130 11 64678123 64678123 76 ALL relapse snv BATF2 silent S237S NM_138456 10-PANZXC BATF2 SYNONYMOUS SNP Somatic 8 0.289 SQHIGH 18 24 42 0 49 49 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 116071 11 64756715 64756715 71 ALL relapse snv BATF2 missense A178V NM_138456 10-PANZXC BATF2 MISSENSE SNP Somatic 15 0.680 SQHIGH 28 23 51 0 56 56 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 116071 11 64756893 64756893 114 ALL relapse snv SNX15 missense A5T NM_013306 10-PANZXC SNX15|ARL2-SNX15 MISSENSE|UTR SNP Somatic 15 0.680 SQHIGH 25 35 60 0 51 51 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 29907|100528018 11 64795022 64795022 80 ALL relapse snv SNX15 missense D7N NM_013306 10-PANZXC SNX15|ARL2-SNX15 MISSENSE|UTR SNP Somatic 12 0.449 SQHIGH 27 33 60 0 39 39 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 29907|100528018 11 64795028 64795028 72 ALL relapse snv SNX15 missense I140N NM_013306 10-PANZXC SNX15|ARL2-SNX15 MISSENSE|UTR SNP Somatic 14 0.583 SQHIGH 46 39 85 0 61 61 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 29907|100528018 11 64802577 64802577 140 ALL relapse snv SPDYC silent P213P NM_001008778 10-PANZXC SPDYC SYNONYMOUS SNP Somatic 10 0.356 SQHIGH 14 20 34 0 45 45 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 387778 11 64940277 64940277 60 ALL relapse snv EHBP1L1 nonsense Q1136* NM_001099409 10-PANZXC EHBP1L1 NONSENSE SNP Somatic 10 0.356 SQHIGH 11 13 24 0 27 27 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 254102 11 65352535 65352535 43 ALL relapse snv KLC2 missense E49K NM_022822 10-PANZXC KLC2 MISSENSE SNP Somatic PFAM:PF09311:Rab5-bind 0 0.130 SQHIGH 14 7 21 0 28 28 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 64837 11 66026210 66026210 68 ALL relapse snv KLC2 missense A50P NM_022822 10-PANZXC KLC2 MISSENSE SNP Somatic PFAM:PF09311:Rab5-bind 10 0.356 SQHIGH 13 9 22 0 25 25 G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 64837 11 66026213 66026213 55 ALL relapse snv KLC2 missense A75T NM_022822 10-PANZXC KLC2 MISSENSE SNP Somatic PFAM:PF09311:Rab5-bind 13 0.509 SQHIGH 21 19 40 1 53 54 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 64837 11 66026288 66026288 83 ALL relapse snv KLC2 silent Q142Q NM_022822 10-PANZXC KLC2 SYNONYMOUS,INTRON SNP Somatic PFAM:PF09311:Rab5-bind 5 0.207 SQHIGH 27 42 69 0 78 78 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 64837 11 66029410 66029410 103 ALL relapse snv KLC2 silent E391E NM_022822 10-PANZXC KLC2|RAB1B SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF12895:Apc3 8 0.289 SQHIGH 32 38 70 0 79 79 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 64837|81876 11 66031872 66031872 126 ALL relapse snv ZDHHC24 missense Y237F NM_207340 10-PANZXC ZDHHC24 MISSENSE SNP Somatic 14 0.583 SQHIGH 31 23 54 0 35 35 T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 254359 11 66307145 66307145 89 ALL relapse snv ATG16L2 missense A116V NM_033388 10-PANZXC ATG16L2 MISSENSE SNP Somatic PFAM:PF08614:ATG16 -2 0.109 SQHIGH 10 12 22 0 12 12 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 89849 11 72532741 72532741 23 ALL relapse snv GRM5 missense R345Q NM_001143831 10-PANZXC GRM5 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor 12 0.449 SQHIGH 24 17 41 0 50 50 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2915 11 88386449 88386449 106 ALL relapse snv PHLDB1 missense G1102E NM_015157 10-PANZXC PHLDB1 MISSENSE SNP Somatic 15 0.680 SQHIGH 26 29 55 0 66 66 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23187 11 118516257 118516257 107 ALL relapse snv GRIK4 missense R51H NM_014619 10-PANZXC GRIK4 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor -3 0.099 SQHIGH 8 31 39 0 39 39 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2900 11 120673471 120673471 26 ALL relapse snv TECTA missense T815M NM_005422 10-PANZXC TECTA MISSENSE SNP dbsnp.132:rs111759871 Somatic PFAM:PF00094:VWD 12 0.449 SQHIGH 36 34 70 1 61 62 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7007 11 121000423 121000423 111 ALL relapse snv OPCML silent T125T NM_002545 10-PANZXC LOC100128095|OPCML UTR|SYNONYMOUS SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set -3 0.099 SQHIGH 7 39 46 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100128095|4978 11 132527007 132527007 19 ALL relapse snv WNT5B silent F116F NM_032642 10-PANZXC WNT5B SYNONYMOUS SNP Somatic PFAM:PF00110:wnt 1 0.144 SQHIGH 15 62 77 0 42 42 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 81029 12 1748869 1748869 31 ALL relapse snv WNT5B silent C288C NM_032642 10-PANZXC WNT5B SYNONYMOUS SNP Somatic PFAM:PF00110:wnt -1 0.119 SQHIGH 16 38 54 0 30 30 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 81029 12 1755202 1755202 35 ALL relapse snv WNT5B silent I357I NM_032642 10-PANZXC WNT5B SYNONYMOUS SNP Somatic PFAM:PF00110:wnt 4 0.187 SQHIGH 7 25 32 0 14 14 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 81029 12 1755409 1755409 12 ALL relapse snv NCAPD2 nonsense Q1130* NM_014865 10-PANZXC NCAPD2 NONSENSE SNP Somatic 1 0.144 SQHIGH 40 114 154 0 57 57 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9918 12 6637933 6637933 62 ALL relapse snv GPR162 missense S16L NM_014449 10-PANZXC LEPREL2|GPR162 TSS-UPSTREAM|MISSENSE SNP dbsnp.134:rs150340680 Somatic -8 0.067 SQHIGH 10 51 61 1 42 43 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10536|27239 12 6934680 6934680 17 ALL relapse snv SLCO1B3 missense T385M NM_019844 10-PANZXC SLCO1B3 MISSENSE SNP dbsnp.134:rs138702607 Somatic PFAM:PF03137:OATP -4 0.091 SQHIGH 5 20 25 0 24 24 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 28234 12 21032388 21032388 16 ALL relapse snv TMEM117 missense P180S NM_032256 10-PANZXC TMEM117 MISSENSE SNP Somatic 4 0.187 SQHIGH 5 9 14 0 24 24 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84216 12 44605100 44605100 24 ALL relapse snv KMT2D silent G1978G NM_003482 10-PANZXC KMT2D SYNONYMOUS SNP Somatic 10 0.356 SQHIGH 14 32 46 0 36 36 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8085 12 49436047 49436047 40 ALL relapse snv KMT2D missense S606F NM_003482 10-PANZXC KMT2D MISSENSE SNP Somatic 10 0.356 SQHIGH 28 31 59 0 59 59 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8085 12 49445649 49445649 103 ALL relapse snv KMT2D silent L441L NM_003482 10-PANZXC KMT2D SYNONYMOUS SNP Somatic 1 0.144 SQHIGH 20 14 34 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8085 12 49446145 49446145 70 ALL relapse snv KRT81 silent D439D NM_002281 10-PANZXC KRT81 SYNONYMOUS SNP Somatic 10 0.356 SQHIGH 22 20 42 0 41 41 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3887 12 52680240 52680240 81 ALL relapse snv ITGB7 missense G302S NM_000889 10-PANZXC ITGB7 MISSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 5 0.207 SQHIGH 24 52 76 0 59 59 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3695 12 53589896 53589896 68 ALL relapse snv ESPL1 silent I819I NM_012291 10-PANZXC ESPL1 SYNONYMOUS SNP Somatic 12 0.449 SQHIGH 29 40 69 1 70 71 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9700 12 53673608 53673608 93 ALL relapse snv ESPL1 silent C1061C NM_012291 10-PANZXC ESPL1 SYNONYMOUS SNP Somatic 9 0.322 SQHIGH 13 11 24 0 31 31 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9700 12 53677947 53677947 58 ALL relapse snv AMHR2 silent L415L NM_020547 10-PANZXC AMHR2 SYNONYMOUS,INTRON SNP Somatic PFAM:PF00069:Pkinase 9 0.322 SQHIGH 24 27 51 0 55 55 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 269 12 53823717 53823717 92 ALL relapse snv PMEL missense T181I NM_006928 10-PANZXC PMEL MISSENSE SNP Somatic -1 0.119 SQHIGH 22 28 50 0 53 53 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6490 12 56351796 56351796 82 ALL relapse snv PAN2 missense L132I NM_001127460 10-PANZXC PAN2 MISSENSE SNP Somatic 4 0.187 SQHIGH 22 52 74 0 73 73 Cosmic_Gene G G T G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9924 12 56722314 56722314 73 ALL relapse snv BAZ2A missense S1044T NM_013449 10-PANZXC BAZ2A MISSENSE SNP Somatic 12 0.449 SQHIGH 19 20 39 0 39 39 A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11176 12 56997399 56997399 70 ALL relapse snv RAP1B missense N166Y NM_015646 10-PANZXC RAP1B MISSENSE SNP Somatic 9 0.322 SQHIGH 9 18 27 0 25 25 A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5908 12 69050908 69050908 29 ALL relapse snv SART3 missense A957V NM_014706 10-PANZXC SART3 MISSENSE SNP Somatic 19 0.957 SQHIGH 18 15 33 0 47 47 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9733 12 108917256 108917256 85 ALL relapse snv TMEM119 missense A231V NM_181724 10-PANZXC TMEM119 MISSENSE SNP dbsnp.134:rs151298360 Somatic 0 0.130 SQHIGH 17 17 34 0 26 26 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 338773 12 108985468 108985468 52 ALL relapse snv SELPLG missense E101K NM_003006 10-PANZXC SELPLG MISSENSE SNP Somatic 6 0.235 SQHIGH 23 30 53 0 46 46 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6404 12 109017783 109017783 75 ALL relapse snv ANAPC7 missense M1I NM_016238 10-PANZXC ANAPC7 MISSTART SNP Somatic 7 0.260 SQHIGH 7 17 24 0 28 28 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 51434 12 110841532 110841532 26 ALL relapse snv TCTN1 silent G440G NM_001082538 10-PANZXC TCTN1 SYNONYMOUS,INTRON SNP Somatic 13 0.509 SQHIGH 15 15 30 0 53 53 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 79600 12 111080183 111080183 79 ALL relapse snv PPP1CC splice_region C140_E4splice_region NM_002710 10-PANZXC PPP1CC ACCEPTOR SNP Somatic 6 0.235 SQHIGH 15 20 35 0 37 37 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5501 12 111162575 111162575 56 ALL relapse snv PPP1CC splice_region V19_E2splice_region NM_002710 10-PANZXC PPP1CC ACCEPTOR SNP Somatic 14 0.583 SQHIGH 15 19 34 0 38 38 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5501 12 111169714 111169714 58 ALL relapse snv ATXN2 missense S213L NM_002973 10-PANZXC ATXN2 MISSENSE SNP Somatic -3 0.099 SQHIGH 7 3 10 0 10 10 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6311 12 112036681 112036681 28 ALL relapse snv MED13L missense T1023M NM_015335 10-PANZXC MED13L MISSENSE SNP Somatic 9 0.322 SQHIGH 20 21 41 0 47 47 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23389 12 116429691 116429691 81 ALL relapse snv FBXO21 splice E566_E11splice NM_033624 10-PANZXC FBXO21 DISRUPT SNP Somatic 6 0.235 SQHIGH 21 33 54 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23014 12 117593595 117593595 59 ALL relapse snv GCN1L1 missense P1364S NM_006836 10-PANZXC GCN1L1 MISSENSE SNP Somatic 13 0.509 SQHIGH 25 27 52 1 66 67 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10985 12 120589168 120589168 96 ALL relapse snv GCN1L1 silent D1249D NM_006836 10-PANZXC GCN1L1 SYNONYMOUS SNP Somatic 15 0.680 SQHIGH 36 39 75 0 74 74 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10985 12 120591668 120591668 131 ALL relapse snv GCN1L1 silent S828S NM_006836 10-PANZXC MIR4498|GCN1L1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 10 0.356 SQHIGH 28 40 68 2 76 78 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100616179|10985 12 120598012 120598012 86 ALL relapse snv GCN1L1 splice_region V398_E13splice_region NM_006836 10-PANZXC GCN1L1 INTRON SNP Somatic 19 0.957 SQHIGH 16 21 37 0 27 27 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10985 12 120611868 120611868 46 ALL relapse snv RPLP0 missense V253A NM_001002 10-PANZXC RPLP0|LOC100506649|GCN1L1 MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic PFAM:PF00428:Ribosomal_60s 10 0.356 SQHIGH 16 33 49 1 72 73 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6175|100506649|10985 12 120635159 120635159 60 ALL relapse snv RHOF silent G26G NM_019034 10-PANZXC RHOF SYNONYMOUS SNP Somatic 8 0.289 SQHIGH 19 18 37 0 40 40 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 54509 12 122231462 122231462 75 ALL relapse snv SETD1B missense R511H NM_015048 10-PANZXC SETD1B MISSENSE SNP Somatic 14 0.583 SQHIGH 16 14 30 0 34 34 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23067 12 122248383 122248383 65 ALL relapse snv SETD1B missense G530D NM_015048 10-PANZXC SETD1B MISSENSE SNP Somatic 7 0.260 SQHIGH 27 35 62 0 56 56 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23067 12 122248440 122248440 91 ALL relapse snv SETD1B silent T558T NM_015048 10-PANZXC SETD1B SYNONYMOUS SNP Somatic 13 0.509 SQHIGH 12 8 20 0 24 24 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23067 12 122248525 122248525 52 ALL relapse snv SETD1B missense S573N NM_015048 10-PANZXC SETD1B MISSENSE SNP Somatic 10 0.356 SQHIGH 23 20 43 0 29 30 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23067 12 122248569 122248569 66 ALL relapse snv SETD1B missense A1453T NM_015048 10-PANZXC SETD1B MISSENSE SNP Somatic 0 0.130 SQHIGH 11 7 18 0 17 17 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23067 12 122260971 122260971 41 ALL relapse snv LRRC43 silent L149L NM_001098519 10-PANZXC LRRC43 SYNONYMOUS,UTR5 SNP Somatic 10 0.356 SQHIGH 31 44 75 1 52 53 A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 254050 12 122670772 122670772 74 ALL relapse snv B3GNT4 missense P339L NM_030765 10-PANZXC B3GNT4 MISSENSE SNP Somatic 1 0.144 SQHIGH 13 24 37 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 79369 12 122691814 122691814 38 ALL relapse snv LOC101593348 EXON E1_exon NM_019887 10-PANZXC DIABLO INTRON SNP Somatic 7 0.260 SQHIGH 21 29 50 0 47 47 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 56616 12 122711694 122711694 72 ALL relapse snv HIP1R silent A382A NM_003959 10-PANZXC HIP1R SYNONYMOUS SNP Somatic 0 0.130 SQHIGH 7 23 30 0 36 36 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9026 12 123340544 123340544 26 ALL relapse snv HIP1R splice_region K467_E15splice_region NM_003959 10-PANZXC HIP1R INTRON SNP Somatic 7 0.260 SQHIGH 20 32 52 0 50 50 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9026 12 123340901 123340901 68 ALL relapse snv HIP1R splice_region R853_E26splice_region NM_003959 10-PANZXC HIP1R INTRON SNP Somatic 7 0.260 SQHIGH 12 15 27 0 26 26 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9026 12 123344766 123344766 42 ALL relapse snv ABCB9 missense Q302H NM_019625 10-PANZXC ABCB9 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane 6 0.235 SQHIGH 20 36 56 1 59 60 C C A C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23457 12 123433318 123433318 61 ALL relapse snv RILPL1 missense D93N NM_178314 10-PANZXC MIR3908|RILPL1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF09744:Jnk-SapK_ap_N 20 1.000 SQHIGH 17 17 34 0 36 36 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100500909|353116 12 124017753 124017753 65 ALL relapse snv ULK1 silent R153R NM_003565 10-PANZXC ULK1 SYNONYMOUS SNP Somatic -5 0.083 SQHIGH 14 18 32 1 21 22 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8408 12 132393331 132393331 29 ALL relapse snv LOC100130238 EXON E2_exon NM_001122636 10-PANZXC LOC100130238|GALNT9 UTR|INTRON SNP Somatic -10 0.058 SQHIGH 9 43 52 1 37 38 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100130238|50614 12 132855325 132855325 16 ALL relapse snv PABPC3 missense R599C NM_030979 10-PANZXC PABPC3 MISSENSE SNP Somatic PFAM:PF00658:PABP 9 0.322 SQHIGH 13 16 29 0 27 27 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5042 13 25672131 25672131 44 ALL relapse snv KBTBD6 missense A175T NM_152903 10-PANZXC KBTBD6 MISSENSE SNP Somatic PFAM:PF07707:BACK 14 0.583 SQHIGH 12 23 35 0 48 48 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 89890 13 41706125 41706125 51 ALL relapse snv PCDH9 missense Y103C NM_203487 10-PANZXC LOC730236|PCDH9 TSS-UPSTREAM|MISSENSE SNP Somatic 15 0.680 SQHIGH 26 27 53 1 47 48 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 730236|5101 13 67802265 67802265 77 ALL relapse snv CCDC168 missense A1362V NM_001146197 10-PANZXC CCDC168 MISSENSE SNP Somatic 14 0.583 SQHIGH 16 25 41 0 41 41 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 643677 13 103398962 103398962 56 ALL relapse snv ZFHX2 missense D2325N NM_033400 10-PANZXC ZFHX2 MISSENSE SNP Somatic 11 0.400 SQHIGH 40 47 87 0 78 78 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 85446 14 23991917 23991917 135 ALL relapse snv CCDC175 missense R625Q NM_001164399 10-PANZXC CCDC175 MISSENSE SNP Somatic 19 0.957 SQHIGH 16 22 38 0 46 46 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 729665 14 59992121 59992121 65 ALL relapse snv PLEKHH1 missense T786M NM_020715 10-PANZXC PLEKHH1 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 -4 0.091 SQHIGH 9 46 55 1 49 50 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 57475 14 68043116 68043116 19 ALL relapse snv MAP3K9 silent L1082L NM_033141 10-PANZXC MAP3K9 SYNONYMOUS SNP Somatic 10 0.356 SQHIGH 15 25 40 0 48 48 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4293 14 71197208 71197208 59 ALL relapse snv PSEN1 missense N297K NM_000021 10-PANZXC PSEN1 MISSENSE SNP Somatic PFAM:PF04258:Peptidase_A22B 19 0.957 SQHIGH 12 13 25 0 44 44 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5663 14 73673116 73673116 62 ALL relapse snv PSEN1 missense M298I NM_000021 10-PANZXC PSEN1 MISSENSE SNP Somatic PFAM:PF04258:Peptidase_A22B 17 0.854 SQHIGH 13 20 33 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5663 14 73673119 73673119 49 ALL relapse snv ELMSAN1 missense N481I NM_194278 10-PANZXC ELMSAN1 MISSENSE SNP Somatic 18 0.897 SQHIGH 20 19 39 1 55 56 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 91748 14 74205270 74205270 82 ALL relapse snv CEP128 splice_region N404_E13splice_region NM_152446 10-PANZXC CEP128 ACCEPTOR SNP dbsnp.134:rs143152152 Somatic 14 0.583 SQHIGH 16 18 34 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 145508 14 81259458 81259458 52 ALL relapse snv SLC25A29 silent A225A NM_001039355 10-PANZXC SLC25A29 SYNONYMOUS SNP Somatic PFAM:PF00153:Mito_carr 4 0.187 SQHIGH 12 8 20 1 24 25 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 123096 14 100758857 100758857 44 ALL relapse snv WARS silent D322D NM_004184 10-PANZXC WARS SYNONYMOUS SNP Somatic 5 0.207 SQHIGH 20 27 47 0 42 42 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7453 14 100808882 100808882 66 ALL relapse snv PLCB2 missense A1106V NM_004573 10-PANZXC PLCB2 MISSENSE SNP Somatic PFAM:PF12474:PKK 17 0.854 SQHIGH 22 26 48 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5330 15 40581510 40581510 87 ALL relapse snv PLCB2 missense L1101V NM_004573 10-PANZXC PLCB2 MISSENSE SNP Somatic PFAM:PF12474:PKK 12 0.449 SQHIGH 15 27 42 0 54 54 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5330 15 40581526 40581526 61 ALL relapse snv PLCB2 missense D177V NM_004573 10-PANZXC PLCB2 MISSENSE SNP Somatic 1 0.144 SQHIGH 7 13 20 0 25 25 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5330 15 40594210 40594210 28 ALL relapse snv DUOXA1 missense G248E NM_144565 10-PANZXC DUOXA1 MISSENSE SNP Somatic PFAM:PF10204:DuoxA 14 0.583 SQHIGH 34 44 78 0 72 72 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 90527 15 45412330 45412330 116 ALL relapse snv SNX1 missense S100C NM_003099 10-PANZXC SNX1 INTRON,MISSENSE SNP Somatic PFAM:PF03700:Sorting_nexin 16 0.752 SQHIGH 20 22 42 0 62 62 A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6642 15 64410342 64410342 94 ALL relapse snv SMAD3 missense P141S NM_005902 10-PANZXC SMAD3 TSS-UPSTREAM,MISSENSE SNP Somatic 5 0.207 SQHIGH 20 40 60 1 35 36 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4088 15 67457611 67457611 37 ALL relapse snv FES missense C372Y NM_002005 10-PANZXC FES MISSENSE SNP Somatic 14 0.583 SQHIGH 16 21 37 1 47 48 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2242 15 91433387 91433387 57 ALL relapse snv PRC1 missense M438I NM_003981 10-PANZXC LOC100507118|PRC1 INTRON|MISSENSE SNP Somatic PFAM:PF03999:MAP65_ASE1 12 0.449 SQHIGH 19 22 41 0 45 45 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100507118|9055 15 91517851 91517851 73 ALL relapse snv CHSY1 missense A418V NM_014918 10-PANZXC CHSY1 MISSENSE SNP Somatic PFAM:PF01644:Chitin_synth_1 14 0.583 SQHIGH 27 30 57 0 53 53 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 22856 15 101718749 101718749 94 ALL relapse snv CAPN15 missense A189T NM_005632 10-PANZXC CAPN15 MISSENSE SNP Somatic -2 0.109 SQHIGH 8 17 25 0 25 25 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6650 16 597403 597403 27 ALL relapse snv TELO2 missense A275T NM_016111 10-PANZXC TELO2 MISSENSE SNP Somatic 17 0.854 SQHIGH 20 24 44 0 39 39 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9894 16 1547502 1547502 67 ALL relapse snv TELO2 missense G277R NM_016111 10-PANZXC TELO2 MISSENSE SNP Somatic 17 0.854 SQHIGH 20 25 45 0 44 44 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9894 16 1547508 1547508 71 ALL relapse snv TELO2 missense G449D NM_016111 10-PANZXC TELO2 MISSENSE SNP Somatic 1 0.144 SQHIGH 7 7 14 0 17 17 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9894 16 1551485 1551485 29 ALL relapse snv TELO2 silent P588P NM_016111 10-PANZXC TELO2 SYNONYMOUS SNP Somatic PFAM:PF10193:Telomere_reg-2 16 0.752 SQHIGH 15 14 29 0 42 42 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9894 16 1552756 1552756 71 ALL relapse snv MAPK8IP3 missense A967T NM_015133 10-PANZXC MAPK8IP3 MISSENSE SNP Somatic PFAM:PF05887:Trypan_PARP -6 0.078 SQHIGH 7 5 12 0 19 19 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23162 16 1816612 1816612 35 ALL relapse snv MAPK8IP3 missense G1154D NM_015133 10-PANZXC MAPK8IP3 MISSENSE SNP Somatic 8 0.289 SQHIGH 14 17 31 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23162 16 1817860 1817860 49 ALL relapse snv MAPK8IP3 missense G1164E NM_015133 10-PANZXC MAPK8IP3 MISSENSE SNP Somatic 6 0.235 SQHIGH 17 36 53 0 58 58 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23162 16 1817890 1817890 61 ALL relapse snv NME3 missense A116V NM_002513 10-PANZXC NME3|EME2 MISSENSE|TSS-UPSTREAM SNP Somatic -4 0.091 SQHIGH 9 7 16 0 8 8 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4832|197342 16 1820927 1820927 21 ALL relapse snv NME3 silent S87S NM_002513 10-PANZXC NME3|EME2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -1 0.119 SQHIGH 7 12 19 1 24 25 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4832|197342 16 1821089 1821089 21 ALL relapse snv IGFALS silent G360G NM_001146006 10-PANZXC IGFALS SYNONYMOUS,UTR SNP Somatic 16 0.752 SQHIGH 12 17 29 1 38 39 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3483 16 1841453 1841453 42 ALL relapse snv IGFALS missense S336F NM_001146006 10-PANZXC IGFALS MISSENSE,UTR SNP Somatic 8 0.289 SQHIGH 14 22 36 0 39 39 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3483 16 1841526 1841526 52 ALL relapse snv PKD1 missense T1350M NM_001009944 10-PANZXC PKD1 MISSENSE SNP Somatic PFAM:PF00801:PKD 7 0.260 SQHIGH 10 22 32 1 36 37 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5310 16 2161119 2161119 29 ALL relapse snv TRAF7 splice_region I543_E18splice_region NM_032271 10-PANZXC TRAF7 ACCEPTOR SNP Somatic 8 0.289 SQHIGH 23 26 50 0 38 38 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84231 16 2225825 2225825 70 ALL relapse snv FLYWCH1 missense C565Y NM_032296 10-PANZXC FLYWCH1 MISSENSE SNP Somatic PFAM:PF04500:FLYWCH 9 0.322 SQHIGH 15 16 31 0 29 29 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84256 16 2987305 2987305 52 ALL relapse snv FLYWCH1 missense D589N NM_032296 10-PANZXC FLYWCH1 MISSENSE SNP Somatic 12 0.449 SQHIGH 18 19 37 0 42 42 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84256 16 2987376 2987376 72 ALL relapse snv FLYWCH1 missense D632N NM_032296 10-PANZXC FLYWCH1 MISSENSE SNP Somatic PFAM:PF04500:FLYWCH -9 0.062 SQHIGH 20 25 45 0 45 45 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84256 16 2988304 2988304 72 ALL relapse snv PPL missense R565Q NM_002705 10-PANZXC PPL MISSENSE SNP Somatic -1 0.119 SQHIGH 9 33 42 0 46 46 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5493 16 4942171 4942171 31 ALL relapse snv GRIN2A missense R1241W NM_001134407 10-PANZXC GRIN2A MISSENSE SNP Somatic PFAM:PF10565:NMDAR2_C 9 0.322 SQHIGH 23 27 50 1 49 50 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2903 16 9857680 9857680 72 ALL relapse snv CIITA missense A772V NM_000246 10-PANZXC CIITA MISSENSE SNP Somatic -7 0.073 SQHIGH 6 16 22 0 23 23 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4261 16 11001664 11001664 20 ALL relapse snv ABCC6 missense R382W NM_001171 10-PANZXC ABCC6 MISSENSE SNP dbsnp.130:rs72653761 Somatic PFAM:PF00664:ABC_membrane 12 0.449 SQHIGH 14 15 29 0 38 38 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 368 16 16295890 16295890 61 ALL relapse snv NSMCE1 silent F166F NM_145080 10-PANZXC NSMCE1 SYNONYMOUS SNP Somatic PFAM:PF07574:SMC_Nse1 3 0.170 SQHIGH 25 22 47 0 40 40 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 197370 16 27238143 27238143 85 ALL relapse snv APOBR silent S323S NM_018690 10-PANZXC APOBR|CLN3 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -2 0.109 SQHIGH 7 36 43 1 42 43 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55911|1201 16 28507331 28507331 15 ALL relapse snv APOBR silent G324G NM_018690 10-PANZXC APOBR|CLN3 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -3 0.099 SQHIGH 5 35 40 0 42 42 Cosmic_Gene C C A C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55911|1201 16 28507334 28507334 16 ALL relapse snv TAOK2 missense S413N NM_016151 10-PANZXC TAOK2 MISSENSE SNP Somatic 17 0.854 SQHIGH 29 33 62 1 66 67 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9344 16 29994631 29994631 99 ALL relapse snv TAOK2 missense I415N NM_016151 10-PANZXC TAOK2 MISSENSE SNP Somatic 11 0.400 SQHIGH 20 36 56 0 52 52 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9344 16 29994637 29994637 66 ALL relapse snv HIRIP3 missense A517V NM_003609 10-PANZXC INO80E|HIRIP3 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF09649:CHZ 11 0.400 SQHIGH 20 25 45 0 52 52 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 283899|8479 16 30004649 30004649 79 ALL relapse snv DOC2A missense P197S NM_003586 10-PANZXC DOC2A MISSENSE SNP Somatic 7 0.260 SQHIGH 19 22 41 0 45 45 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8448 16 30018559 30018559 73 ALL relapse snv C16orf92 missense G65E NM_001109659 10-PANZXC C16orf92 MISSENSE SNP Somatic 4 0.187 SQHIGH 26 49 75 1 62 63 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 146378 16 30035177 30035177 67 ALL relapse snv CORO1A missense Y321N NM_007074 10-PANZXC CORO1A MISSENSE SNP Somatic PFAM:PF08954:DUF1900 16 0.752 SQHIGH 22 25 47 0 43 43 T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11151 16 30199362 30199362 76 ALL relapse snv CORO1A splice_region R336_E8splice_region NM_007074 10-PANZXC CORO1A DONOR SNP Somatic 12 0.449 SQHIGH 26 19 45 0 51 51 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11151 16 30199411 30199411 109 ALL relapse snv ZNF768 nonsense R243* NM_024671 10-PANZXC ZNF768 NONSENSE SNP Somatic -1 0.119 SQHIGH 18 14 32 0 38 38 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 79724 16 30536734 30536734 77 ALL relapse snv RNF40 missense D635H NM_014771 10-PANZXC RNF40 MISSENSE SNP Somatic 7 0.260 SQHIGH 24 36 60 0 65 65 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9810 16 30779775 30779775 90 ALL relapse snv RNF40 splice_region K660_E13splice_region NM_014771 10-PANZXC RNF40 DONOR SNP Somatic 15 0.680 SQHIGH 33 25 58 0 63 63 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9810 16 30779854 30779854 135 ALL relapse snv CDH5 silent R222R NM_001795 10-PANZXC CDH5 SYNONYMOUS SNP Somatic 10 0.356 SQHIGH 33 37 70 0 83 83 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1003 16 66423310 66423310 135 ALL relapse snv CDH5 missense D654N NM_001795 10-PANZXC CDH5 MISSENSE SNP Somatic PFAM:PF01049:Cadherin_C 19 0.957 SQHIGH 17 15 32 0 23 23 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1003 16 66436677 66436677 51 ALL relapse snv CES3 splice_region P142_E3splice_region NM_024922 10-PANZXC CES3 TSS-UPSTREAM,DONOR SNP Somatic 2 0.156 SQHIGH 26 26 52 1 41 42 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23491 16 66997537 66997537 71 ALL relapse snv CES4A missense D211N NM_173815 10-PANZXC CES4A MISSENSE SNP Somatic PFAM:PF06342:DUF1057 8 0.289 SQHIGH 18 25 43 1 54 55 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 283848 16 67035305 67035305 64 ALL relapse snv EXOC3L1 missense P486S NM_178516 10-PANZXC EXOC3L1|KIAA0895L MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF06046:Sec6 4 0.187 SQHIGH 31 39 70 1 65 66 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 283849|653319 16 67220180 67220180 94 ALL relapse snv ELMO3 silent G12G NM_024712 10-PANZXC ELMO3 SYNONYMOUS SNP Somatic -5 0.083 SQHIGH 9 8 17 0 11 11 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 79767 16 67233106 67233106 25 ALL relapse snv FHOD1 missense R988G NM_013241 10-PANZXC LRRC29|FHOD1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF02181:FH2 9 0.322 SQHIGH 18 18 36 0 40 40 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 26231|29109 16 67264306 67264306 71 ALL relapse snv FHOD1 missense R926C NM_013241 10-PANZXC LRRC29|FHOD1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF02181:FH2 17 0.854 SQHIGH 14 11 25 0 34 34 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 26231|29109 16 67264586 67264586 65 ALL relapse snv PLEKHG4 missense N1067S NM_015432 10-PANZXC PLEKHG4 MISSENSE SNP Somatic 12 0.449 SQHIGH 15 29 44 1 66 67 Cosmic_Gene A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 25894 16 67321897 67321897 57 ALL relapse snv SLC12A4 silent I851I NM_005072 10-PANZXC SLC12A4|LCAT SYNONYMOUS|TSS-UPSTREAM SNP Somatic 15 0.680 SQHIGH 31 29 60 1 63 64 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6560|3931 16 67980128 67980128 108 ALL relapse snv SLC12A4 missense S278L NM_005072 10-PANZXC SLC12A4 MISSENSE SNP Somatic 8 0.289 SQHIGH 21 30 51 0 48 48 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6560 16 67986171 67986171 71 ALL relapse snv LOC100131303 silent R41R NM_001282442 10-PANZXC SNP Somatic 14 0.583 SQHIGH 9 20 29 0 34 34 T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 16 68048260 68048260 34 ALL relapse snv DDX28 silent P160P NM_018380 10-PANZXC DDX28|DUS2L SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF00485:PRK 7 0.260 SQHIGH 19 15 34 0 49 49 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55794|54920 16 68056626 68056626 91 ALL relapse snv COG8 missense P530S NM_032382 10-PANZXC COG8|PDF MISSENSE|TSS-UPSTREAM SNP Somatic 20 1.000 SQHIGH 18 16 34 1 40 41 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84342|64146 16 69364993 69364993 65 ALL relapse snv ZFHX3 silent C728C NM_006885 10-PANZXC ZFHX3 SYNONYMOUS,INTRON SNP Somatic 4 0.187 SQHIGH 24 48 72 1 81 82 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 463 16 72991861 72991861 78 ALL relapse snv IL17C silent L158L NM_013278 10-PANZXC IL17C SYNONYMOUS SNP Somatic PFAM:PF06083:IL17 2 0.156 SQHIGH 10 8 18 0 26 26 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 27189 16 88706360 88706360 48 ALL relapse snv LOC339059 EXON E2_exon NM_001142864 10-PANZXC FLJ40448|PIEZO1 UTR|INTRON SNP Somatic 17 0.854 SQHIGH 26 19 45 0 64 64 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 339059|9780 16 88809842 88809842 126 ALL relapse snv SPG7 missense G605S NM_003119 10-PANZXC SPG7 MISSENSE SNP Somatic PFAM:PF01434:Peptidase_M41 15 0.680 SQHIGH 12 18 30 1 40 41 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6687 16 89619420 89619420 42 ALL relapse snv MYO1C silent R848R NM_001080779 10-PANZXC MYO1C SYNONYMOUS SNP Somatic 10 0.356 SQHIGH 23 23 46 0 45 45 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4641 17 1372891 1372891 84 ALL relapse snv MYO1C missense R801H NM_001080779 10-PANZXC MYO1C MISSENSE SNP Somatic 8 0.289 SQHIGH 7 10 17 1 22 23 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4641 17 1373593 1373593 22 ALL relapse snv MYO1C splice_region L494_E13splice_region NM_001080779 10-PANZXC MYO1C DONOR SNP Somatic 6 0.235 SQHIGH 20 40 60 0 61 61 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4641 17 1381182 1381182 69 ALL relapse snv MYO1C silent V427V NM_001080779 10-PANZXC MYO1C SYNONYMOUS SNP Somatic 11 0.400 SQHIGH 15 30 45 0 41 41 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4641 17 1381718 1381718 48 ALL relapse snv MYO1C splice_region L365_E10splice_region NM_001080779 10-PANZXC MYO1C ACCEPTOR SNP Somatic 15 0.680 SQHIGH 16 19 35 0 37 37 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4641 17 1382039 1382039 60 ALL relapse snv WDR81 missense P515S NM_001163809 10-PANZXC WDR81 INTRON,MISSENSE SNP Somatic 5 0.207 SQHIGH 11 26 37 0 41 41 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 124997 17 1629796 1629796 40 ALL relapse snv WDR81 missense P1285S NM_001163809 10-PANZXC WDR81 MISSENSE SNP Somatic 7 0.260 SQHIGH 16 22 38 1 41 42 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 124997 17 1634126 1634126 50 ALL relapse snv GSG2 silent D596D NM_031965 10-PANZXC GSG2|ITGAE SYNONYMOUS|INTRON SNP Somatic PFAM:PF03109:ABC1 14 0.583 SQHIGH 30 34 64 0 59 59 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 83903|3682 17 3629017 3629017 104 ALL relapse snv NLRP1 silent K583K NM_033004 10-PANZXC NLRP1 SYNONYMOUS SNP Somatic -1 0.119 SQHIGH 29 23 52 0 49 49 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 22861 17 5462267 5462267 107 ALL relapse snv WSCD1 silent Y481Y NM_015253 10-PANZXC WSCD1 SYNONYMOUS SNP dbsnp.134:rs142363588 Somatic PFAM:PF00685:Sulfotransfer_1 1 0.144 SQHIGH 13 18 31 0 20 20 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23302 17 6023696 6023696 34 ALL relapse snv C17orf100 missense E100Q NM_001105520 10-PANZXC MED31|C17orf100|MIR4520B TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic -3 0.099 SQHIGH 10 7 17 0 19 19 G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 51003|388327|100616466 17 6555531 6555531 41 ALL relapse snv SPEM1 missense R253W NM_199339 10-PANZXC SPEM1|C17orf74 MISSENSE|TSS-UPSTREAM SNP Somatic 9 0.322 SQHIGH 19 12 31 0 36 36 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 374768|201243 17 7324751 7324751 82 ALL relapse snv SPEM1 missense D263V NM_199339 10-PANZXC SPEM1|C17orf74 MISSENSE|TSS-UPSTREAM SNP Somatic 16 0.752 SQHIGH 17 32 49 0 64 64 A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 374768|201243 17 7324782 7324782 70 ALL relapse snv SPEM1 missense R270W NM_199339 10-PANZXC SPEM1|C17orf74 MISSENSE|TSS-UPSTREAM SNP Somatic -1 0.119 SQHIGH 26 33 59 1 40 42 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 374768|201243 17 7324802 7324802 61 ALL relapse snv CHRNB1 missense L58F NM_000747 10-PANZXC CHRNB1 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 0 0.130 SQHIGH 7 15 22 0 27 27 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1140 17 7348702 7348702 27 ALL relapse snv CHRNB1 missense P409S NM_000747 10-PANZXC CHRNB1 MISSENSE SNP Somatic PFAM:PF02932:Neur_chan_memb 7 0.260 SQHIGH 9 21 30 1 40 41 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1140 17 7359120 7359120 29 ALL relapse snv CHRNB1 missense P414S NM_000747 10-PANZXC CHRNB1 MISSENSE SNP Somatic PFAM:PF02932:Neur_chan_memb 9 0.322 SQHIGH 9 22 31 0 49 49 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1140 17 7359135 7359135 41 ALL relapse snv SENP3 missense S44L NM_015670 10-PANZXC SENP3-EIF4A1|SENP3 UTR|MISSENSE SNP Somatic 15 0.680 SQHIGH 14 23 37 0 47 47 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100533955|26168 17 7466524 7466524 57 ALL relapse snv SOX15 missense A142T NM_006942 10-PANZXC SOX15 MISSENSE SNP Somatic 14 0.583 SQHIGH 16 18 34 0 24 24 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6665 17 7492571 7492571 46 ALL relapse snv CNTROB missense A72T NM_053051 10-PANZXC KCNAB3|CNTROB|TRAPPC1 TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs148253487 Somatic 9 0.322 SQHIGH 22 13 35 1 40 41 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9196|116840|58485 17 7836611 7836611 84 ALL relapse snv SPDYE4 silent P24P NM_001128076 10-PANZXC SPDYE4 SYNONYMOUS SNP Somatic 4 0.187 SQHIGH 24 34 58 0 45 45 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 388333 17 8661629 8661629 71 ALL relapse snv MYH4 silent V140V NM_017533 10-PANZXC MYH4 SYNONYMOUS SNP Somatic -9 0.062 SQHIGH 8 13 21 0 21 21 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4622 17 10368844 10368844 28 ALL relapse snv GID4 missense V143M NM_024052 10-PANZXC ATPAF2|C17orf39 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF09783:Vac_ImportDeg 16 0.752 SQHIGH 14 16 30 0 47 47 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 91647|79018 17 17943205 17943205 68 ALL relapse snv GID4 silent V144V NM_024052 10-PANZXC ATPAF2|C17orf39 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF09783:Vac_ImportDeg 5 0.207 SQHIGH 16 16 32 0 39 39 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 91647|79018 17 17943210 17943210 67 ALL relapse snv DRG2 silent V136V NM_001388 10-PANZXC DRG2 SYNONYMOUS SNP Somatic 6 0.235 SQHIGH 9 24 33 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1819 17 18002978 18002978 27 ALL relapse snv FLII missense R484P NM_002018 10-PANZXC FLII MISSENSE SNP Somatic -2 0.109 SQHIGH 25 30 55 0 50 50 Cosmic_Gene C C G C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2314 17 18154724 18154724 85 ALL relapse snv FLII silent K482K NM_002018 10-PANZXC FLII SYNONYMOUS SNP Somatic -2 0.109 SQHIGH 29 38 67 0 52 52 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2314 17 18154729 18154729 87 ALL relapse snv FLII missense I392N NM_002018 10-PANZXC FLII MISSENSE SNP Somatic 13 0.509 SQHIGH 23 25 48 1 45 46 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2314 17 18155384 18155384 70 ALL relapse snv ACACA silent L1933L NM_198834 10-PANZXC ACACA SYNONYMOUS SNP Somatic PFAM:PF01039:Carboxyl_trans 12 0.449 SQHIGH 19 28 47 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 31 17 35487025 35487025 47 ALL relapse snv GPR179 missense A1159T NM_001004334 10-PANZXC GPR179 MISSENSE SNP Somatic 5 0.207 SQHIGH 6 22 28 1 38 39 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 440435 17 36485977 36485977 17 ALL relapse snv HDAC5 silent S394S NM_005474 10-PANZXC HDAC5 SYNONYMOUS SNP Somatic 12 0.449 SQHIGH 13 11 24 1 34 35 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10014 17 42168843 42168843 52 ALL relapse snv ARHGAP27 missense V220I NM_174919 10-PANZXC ARHGAP27 TSS-UPSTREAM,MISSENSE SNP Somatic 8 0.289 SQHIGH 11 24 35 0 27 27 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 201176 17 43506988 43506988 31 ALL relapse snv ARHGAP27 missense E215K NM_174919 10-PANZXC ARHGAP27 TSS-UPSTREAM,MISSENSE SNP Somatic -1 0.119 SQHIGH 11 23 34 0 36 36 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 201176 17 43507003 43507003 39 ALL relapse snv ZNF652 missense R479C NM_001145365 10-PANZXC ZNF652 MISSENSE SNP Somatic 15 0.680 SQHIGH 14 20 34 0 28 28 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 22834 17 47376161 47376161 43 ALL relapse snv DDX5 missense E476K NM_004396 10-PANZXC POLG2|DDX5 TSS-UPSTREAM|MISSENSE SNP Somatic 12 0.449 SQHIGH 23 29 52 0 46 46 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11232|1655 17 62496682 62496682 76 ALL relapse snv AMZ2 missense L36F NM_016627 10-PANZXC AMZ2 MISSENSE SNP Somatic 9 0.322 SQHIGH 19 34 53 0 67 67 A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 51321 17 66246436 66246436 77 ALL relapse snv WIPI1 missense A332V NM_017983 10-PANZXC WIPI1|MIR635 MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.235 SQHIGH 25 36 61 1 60 61 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55062|693220 17 66425048 66425048 77 ALL relapse snv NT5C splice A58A NM_014595 10-PANZXC NT5C SYNONYMOUS SNP Somatic PFAM:PF06941:NT5C 5 0.207 SQHIGH 8 17 25 0 17 17 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 30833 17 73127629 73127629 20 ALL relapse snv NT5C silent L57L NM_014595 10-PANZXC NT5C SYNONYMOUS SNP Somatic PFAM:PF06941:NT5C 6 0.235 SQHIGH 7 14 21 0 13 13 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 30833 17 73127632 73127632 17 ALL relapse snv EXOC7 splice_region K651_E18splice_region NM_001013839 10-PANZXC EXOC7 DONOR SNP Somatic 11 0.400 SQHIGH 30 31 61 0 68 68 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23265 17 74080084 74080084 119 ALL relapse snv CYGB missense A36T NM_134268 10-PANZXC PRCD|CYGB INTRON,TSS-UPSTREAM|MISSENSE SNP Somatic -1 0.119 SQHIGH 13 13 26 0 28 28 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 768206|114757 17 74533519 74533519 50 ALL relapse snv BAIAP2 missense A167T NM_017450 10-PANZXC BAIAP2 MISSENSE SNP Somatic PFAM:PF08397:IMD 16 0.752 SQHIGH 22 19 41 1 62 63 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10458 17 79073737 79073737 96 ALL relapse snv FASN silent L803L NM_004104 10-PANZXC FASN SYNONYMOUS SNP Somatic PFAM:PF00698:Acyl_transf_1 6 0.235 SQHIGH 30 27 57 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2194 17 80046648 80046648 87 ALL relapse snv FASN missense G799D NM_004104 10-PANZXC FASN MISSENSE SNP Somatic PFAM:PF00698:Acyl_transf_1 2 0.156 SQHIGH 27 23 50 0 41 41 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2194 17 80046661 80046661 90 ALL relapse snv FASN missense R773H NM_004104 10-PANZXC FASN MISSENSE SNP Somatic PFAM:PF00698:Acyl_transf_1 15 0.680 SQHIGH 18 18 36 0 42 42 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2194 17 80046739 80046739 74 ALL relapse snv L3MBTL4-AS1 EXON E5_exon NM_173464 10-PANZXC L3MBTL4 INTRON SNP Somatic -10 0.058 SQHIGH 4 32 36 0 39 39 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 91133 18 6259738 6259738 13 ALL relapse snv MTCL1 silent L601L NM_015210 10-PANZXC MTCL1 SYNONYMOUS SNP Somatic 1 0.144 SQHIGH 10 6 16 0 11 11 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23255 18 8786005 8786005 30 ALL relapse snv LAMA3 silent C1822C NM_198129 10-PANZXC LAMA3 SYNONYMOUS SNP dbsnp.134:rs149644759 Somatic 13 0.509 SQHIGH 29 23 52 0 47 47 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3909 18 21474875 21474875 104 ALL relapse snv SIGLEC15 missense P76L NM_213602 10-PANZXC SIGLEC15 MISSENSE SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set -7 0.073 SQHIGH 5 7 12 0 29 29 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 284266 18 43417592 43417592 30 ALL relapse snv SIGLEC15 missense A88V NM_213602 10-PANZXC SIGLEC15 MISSENSE SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set 12 0.449 SQHIGH 16 15 31 0 28 28 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 284266 18 43417628 43417628 56 ALL relapse snv RAX silent S16S NM_013435 10-PANZXC RAX SYNONYMOUS SNP Somatic -1 0.119 SQHIGH 8 21 29 0 25 25 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 30062 18 56940391 56940391 24 ALL relapse snv ATP9B missense V450I NM_198531 10-PANZXC ATP9B MISSENSE SNP Somatic 8 0.289 SQHIGH 9 24 33 0 24 24 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 374868 18 77037133 77037133 24 ALL relapse snv HCN2 silent F545F NM_001194 10-PANZXC HCN2 SYNONYMOUS SNP Somatic -3 0.099 SQHIGH 5 8 13 0 27 27 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 610 19 613298 613298 27 ALL relapse snv CNN2 silent T172T NM_004368 10-PANZXC ABCA7|CNN2 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF00402:Calponin 8 0.289 SQHIGH 24 39 63 0 62 62 Cosmic_Gene C C G C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10347|1265 19 1036423 1036423 83 ALL relapse snv ABCA7 missense L128M NM_019112 10-PANZXC ABCA7 MISSENSE SNP Somatic 19 0.957 SQHIGH 13 16 29 0 54 54 Cosmic_Gene C C A C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10347 19 1042142 1042142 69 ALL relapse snv ABCA7 missense A134V NM_019112 10-PANZXC ABCA7 MISSENSE SNP Somatic 13 0.509 SQHIGH 11 25 36 0 45 45 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10347 19 1042161 1042161 43 ALL relapse snv HMHA1 missense R692H NM_012292 10-PANZXC HMHA1 MISSENSE SNP Somatic 1 0.144 SQHIGH 11 22 33 1 30 31 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23526 19 1080948 1080948 27 ALL relapse snv HMHA1 silent K802K NM_012292 10-PANZXC HMHA1 SYNONYMOUS SNP Somatic PFAM:PF00620:RhoGAP 17 0.854 SQHIGH 14 11 25 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23526 19 1081849 1081849 59 ALL relapse snv HMHA1 missense G931D NM_012292 10-PANZXC HMHA1 MISSENSE SNP Somatic PFAM:PF00620:RhoGAP 11 0.400 SQHIGH 16 21 37 0 22 22 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23526 19 1083189 1083189 39 ALL relapse snv ATP5D splice_region V48_E2splice_region NM_001687 10-PANZXC ATP5D|C19orf26 ACCEPTOR|TSS-UPSTREAM SNP Somatic 9 0.322 SQHIGH 11 25 36 0 31 31 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 513|255057 19 1242451 1242451 33 ALL relapse snv MIDN missense R136H NM_177401 10-PANZXC MIDN MISSENSE SNP Somatic 13 0.509 SQHIGH 17 22 39 0 45 45 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 90007 19 1254188 1254188 67 ALL relapse snv MIDN missense D447N NM_177401 10-PANZXC MIDN MISSENSE SNP Somatic -10 0.058 SQHIGH 9 7 16 0 19 19 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 90007 19 1257203 1257203 38 ALL relapse snv CIRBP-AS1 EXON E1_exon NM_001280 10-PANZXC C19orf23|CIRBP UTR|INTRON SNP Somatic 9 0.322 SQHIGH 29 31 60 0 42 42 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 148046|1153 19 1269899 1269899 83 ALL relapse snv CIRBP-AS1 EXON E1_exon NM_001280 10-PANZXC C19orf23|CIRBP UTR|INTRON SNP Somatic 11 0.400 SQHIGH 10 19 29 1 30 31 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 148046|1153 19 1269943 1269943 27 ALL relapse snv CIRBP-AS1 EXON E1_exon NM_001280 10-PANZXC C19orf23|CIRBP UTR|INTRON SNP Somatic 15 0.680 SQHIGH 22 25 47 0 44 44 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 148046|1153 19 1270148 1270148 77 ALL relapse snv EFNA2 missense S64N NM_001405 10-PANZXC EFNA2 MISSENSE SNP Somatic -8 0.067 SQHIGH 9 5 14 0 11 11 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1943 19 1295594 1295594 30 ALL relapse snv CSNK1G2 missense S319N NM_001319 10-PANZXC CSNK1G2 MISSENSE SNP Somatic 0 0.130 SQHIGH 9 5 14 0 18 18 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1455 19 1979596 1979596 41 ALL relapse snv CSNK1G2 missense R413Q NM_001319 10-PANZXC CSNK1G2 MISSENSE SNP dbsnp.134:rs143259235 Somatic 5 0.207 SQHIGH 18 23 41 1 30 31 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1455 19 1980192 1980192 43 ALL relapse snv MKNK2 silent D306D NM_017572 10-PANZXC MKNK2 SYNONYMOUS SNP Somatic PFAM:PF03109:ABC1 -9 0.062 SQHIGH 6 4 10 0 15 15 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2872 19 2041866 2041866 29 ALL relapse snv AP3D1 missense D1197N NM_001261826 10-PANZXC AP3D1 MISSENSE SNP Somatic PFAM:PF06375:BLVR 17 0.854 SQHIGH 23 24 47 0 42 42 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8943 19 2102231 2102231 79 ALL relapse snv AP3D1 silent S710S NM_001261826 10-PANZXC AP3D1 SYNONYMOUS SNP Somatic PFAM:PF06375:BLVR 14 0.583 SQHIGH 32 18 50 0 63 63 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8943 19 2115556 2115556 149 ALL relapse snv DOT1L missense P130S NM_032482 10-PANZXC DOT1L MISSENSE SNP Somatic PFAM:PF00398:RrnaAD 8 0.289 SQHIGH 13 30 43 0 49 49 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84444 19 2191134 2191134 48 ALL relapse snv DOT1L missense G811D NM_032482 10-PANZXC DOT1L MISSENSE SNP Somatic 16 0.752 SQHIGH 31 31 62 0 51 51 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84444 19 2216977 2216977 101 ALL relapse snv DOT1L silent G859G NM_032482 10-PANZXC DOT1L SYNONYMOUS SNP Somatic -5 0.083 SQHIGH 7 16 23 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84444 19 2217803 2217803 28 ALL relapse snv DOT1L missense A1513T NM_032482 10-PANZXC DOT1L MISSENSE SNP Somatic -3 0.099 SQHIGH 6 15 21 0 24 24 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84444 19 2227057 2227057 22 ALL relapse snv C19orf35 missense R260H NM_198532 10-PANZXC C19orf35 MISSENSE SNP Somatic 3 0.170 SQHIGH 10 11 21 0 16 16 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 374872 19 2276322 2276322 30 ALL relapse snv SPPL2B splice_region T153_E4splice_region NM_152988 10-PANZXC SPPL2B INTRON SNP Somatic 19 0.957 SQHIGH 23 15 38 1 40 41 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 56928 19 2338849 2338849 82 ALL relapse snv LMNB2 silent R231R NM_032737 10-PANZXC LMNB2 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament 5 0.207 SQHIGH 16 11 27 0 29 29 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84823 19 2435161 2435161 65 ALL relapse snv GNA11 silent I167I NM_002067 10-PANZXC GNA11 SYNONYMOUS SNP Somatic 9 0.322 SQHIGH 13 15 28 0 22 22 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2767 19 3114966 3114966 40 ALL relapse snv FZR1 silent N84N NM_001136198 10-PANZXC FZR1 SYNONYMOUS SNP Somatic 16 0.752 SQHIGH 9 14 23 0 31 31 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 51343 19 3526174 3526174 38 ALL relapse snv MFSD12 missense T245I NM_001287529 10-PANZXC MFSD12 MISSENSE SNP Somatic -10 0.058 SQHIGH 14 14 28 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 126321 19 3547922 3547922 54 ALL relapse snv HMG20B silent Q216Q NM_006339 10-PANZXC HMG20B SYNONYMOUS SNP Somatic 14 0.583 SQHIGH 10 12 22 0 24 24 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10362 19 3576945 3576945 38 ALL relapse snv HMG20B splice G270_E8splice NM_006339 10-PANZXC HMG20B MISSENSE SNP Somatic 2 0.156 SQHIGH 8 14 22 0 23 23 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10362 19 3577105 3577105 28 ALL relapse snv TICAM1 silent G639G NM_182919 10-PANZXC TICAM1 SYNONYMOUS SNP Somatic 10 0.356 SQHIGH 10 12 22 0 28 28 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 148022 19 4816473 4816473 42 ALL relapse snv SLC25A23 splice_region V302_E8splice_region NM_024103 10-PANZXC SLC25A23 ACCEPTOR SNP Somatic 13 0.509 SQHIGH 26 26 52 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 79085 19 6452495 6452495 100 ALL relapse snv ARHGEF18 silent G989G NM_015318 10-PANZXC ARHGEF18 SYNONYMOUS SNP Somatic 3 0.170 SQHIGH 11 21 32 0 31 31 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23370 19 7535103 7535103 37 ALL relapse snv MYO1F missense E449K NM_012335 10-PANZXC MYO1F MISSENSE SNP Somatic 15 0.680 SQHIGH 30 28 58 0 44 44 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4542 19 8610545 8610545 93 ALL relapse snv MYO1F missense A32T NM_012335 10-PANZXC MYO1F MISSENSE SNP Somatic 11 0.400 SQHIGH 18 22 40 0 21 21 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4542 19 8620590 8620590 41 ALL relapse snv ICAM5 missense G810S NM_003259 10-PANZXC ICAM5 MISSENSE SNP Somatic PFAM:PF00047:ig 4 0.187 SQHIGH 13 14 27 0 31 31 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7087 19 10406219 10406219 52 ALL relapse snv ICAM5 splice_region G833_E10splice_region NM_003259 10-PANZXC ICAM5 INTRON SNP Somatic 8 0.289 SQHIGH 19 31 50 0 43 43 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7087 19 10406295 10406295 60 ALL relapse snv PDE4A missense C728Y NM_001111307 10-PANZXC PDE4A MISSENSE SNP Somatic 10 0.356 SQHIGH 35 40 75 2 62 64 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5141 19 10577819 10577819 91 ALL relapse snv KEAP1 silent Y263Y NM_203500 10-PANZXC KEAP1 SYNONYMOUS SNP Somatic PFAM:PF07707:BACK -4 0.091 SQHIGH 8 7 15 0 17 17 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9817 19 10602789 10602789 32 ALL relapse snv KEAP1 missense P44S NM_203500 10-PANZXC KEAP1 MISSENSE SNP Somatic 10 0.356 SQHIGH 17 28 45 1 51 52 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9817 19 10610580 10610580 55 ALL relapse snv KRI1 missense S155L NM_023008 10-PANZXC KRI1 MISSENSE SNP Somatic 8 0.289 SQHIGH 6 13 19 0 42 42 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 65095 19 10672385 10672385 33 ALL relapse snv AP1M2 missense N186Y NM_005498 10-PANZXC AP1M2 MISSENSE SNP Somatic PFAM:PF00928:Adap_comp_sub 13 0.509 SQHIGH 14 25 39 0 35 35 Cosmic_Gene T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10053 19 10692059 10692059 45 ALL relapse snv DNM2 missense V744M NM_001005360 10-PANZXC DNM2 MISSENSE SNP Somatic 2 0.156 SQHIGH 20 26 46 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1785 19 10939883 10939883 80 ALL relapse snv DNM2 missense D823N NM_001005360 10-PANZXC DNM2 MISSENSE SNP Somatic 7 0.260 SQHIGH 29 32 61 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1785 19 10940978 10940978 99 ALL relapse snv TMED1 silent V212V NM_006858 10-PANZXC TMED1 SYNONYMOUS SNP Somatic PFAM:PF01105:EMP24_GP25L 6 0.235 SQHIGH 19 31 50 0 44 44 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11018 19 10943719 10943719 61 ALL relapse snv TMED1 missense R176W NM_006858 10-PANZXC TMED1 MISSENSE SNP Somatic PFAM:PF01105:EMP24_GP25L 15 0.680 SQHIGH 11 26 37 0 45 45 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11018 19 10943829 10943829 42 ALL relapse snv TMED1 missense L174V NM_006858 10-PANZXC TMED1 MISSENSE SNP Somatic PFAM:PF01105:EMP24_GP25L 5 0.207 SQHIGH 7 30 37 0 48 48 Cosmic_Gene G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11018 19 10943835 10943835 27 ALL relapse snv TMED1 silent I169I NM_006858 10-PANZXC TMED1 SYNONYMOUS SNP Somatic PFAM:PF01105:EMP24_GP25L 17 0.854 SQHIGH 12 27 39 0 41 41 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11018 19 10943848 10943848 42 ALL relapse snv CARM1 missense A428T NM_199141 10-PANZXC CARM1 MISSENSE SNP Somatic 6 0.235 SQHIGH 22 29 51 0 46 46 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10498 19 11031197 11031197 73 ALL relapse snv DOCK6 missense H1967Y NM_020812 10-PANZXC KANK2|DOCK6 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF06920:Ded_cyto 13 0.509 SQHIGH 29 34 63 0 65 65 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 25959|57572 19 11311432 11311432 108 ALL relapse snv DDX39A missense I290K NM_005804 10-PANZXC DDX39A MISSENSE,UTR SNP Somatic 11 0.400 SQHIGH 14 33 47 0 49 49 A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10212 19 14520453 14520453 48 ALL relapse snv DDX39A splice_region Q288_E7splice_region NM_005804 10-PANZXC DDX39A DONOR SNP Somatic 12 0.449 SQHIGH 17 24 41 0 54 54 A A G A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 10212 19 14520549 14520549 72 ALL relapse snv USE1 splice_region S51_E2splice_region NM_018467 10-PANZXC USE1 INTRON SNP Somatic 10 0.356 SQHIGH 14 13 27 0 18 18 G G C G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55850 19 17326667 17326667 39 ALL relapse snv ARRDC2 silent F149F NM_015683 10-PANZXC ARRDC2 SYNONYMOUS SNP Somatic PFAM:PF00339:Arrestin_N 13 0.509 SQHIGH 20 24 44 0 49 49 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 27106 19 18119885 18119885 78 ALL relapse snv FKBP8 missense A231T NM_012181 10-PANZXC FKBP8 MISSENSE SNP Somatic 14 0.583 SQHIGH 18 13 31 1 31 32 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23770 19 18649107 18649107 60 ALL relapse snv UPF1 missense R236H NM_002911 10-PANZXC UPF1 MISSENSE SNP Somatic PFAM:PF09416:UPF1_Zn_bind 15 0.680 SQHIGH 9 14 23 1 28 29 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5976 19 18961574 18961574 28 ALL relapse snv SLC7A10 silent G205G NM_019849 10-PANZXC SLC7A10 SYNONYMOUS SNP Somatic PFAM:PF01490:Aa_trans 15 0.680 SQHIGH 14 21 35 0 42 42 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 56301 19 33703439 33703439 56 ALL relapse snv FFAR1 missense P168S NM_005303 10-PANZXC FFAR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 16 0.752 SQHIGH 17 19 36 0 21 21 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2864 19 35842956 35842956 42 ALL relapse snv BCKDHA splice A216_E6splice NM_000709 10-PANZXC BCKDHA MISSENSE SNP Somatic 17 0.854 SQHIGH 22 21 43 0 33 33 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 593 19 41928069 41928069 68 ALL relapse snv CEACAM16 missense G368E NM_001039213 10-PANZXC CEACAM16 MISSENSE SNP Somatic 15 0.680 SQHIGH 17 17 34 0 46 46 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 388551 19 45211295 45211295 76 ALL relapse snv ZNF541 missense A654V NM_001277075 10-PANZXC ZNF541 MISSENSE SNP Somatic 13 0.509 SQHIGH 22 24 46 1 52 53 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 84215 19 48047825 48047825 77 ALL relapse snv PRR12 missense S591N NM_020719 10-PANZXC PRR12 MISSENSE SNP Somatic 18 0.897 SQHIGH 16 18 34 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 57479 19 50099364 50099364 62 ALL relapse snv PEG3 nonsense R965* NM_006210 10-PANZXC ZIM2|PEG3 INTRON|NONSENSE SNP Somatic 17 0.854 SQHIGH 25 23 48 0 54 54 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23619|5178 19 57326917 57326917 101 ALL relapse snv PAX1 silent P259P NM_006192 10-PANZXC PAX1 SYNONYMOUS SNP Somatic 11 0.400 SQHIGH 21 21 42 0 48 48 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5075 20 21687566 21687566 85 ALL relapse snv DDX27 missense E750D NM_017895 10-PANZXC DDX27 MISSENSE SNP Somatic 5 0.207 SQHIGH 27 48 75 0 71 71 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55661 20 47859171 47859171 90 ALL relapse snv BCAS1 silent G251G NM_003657 10-PANZXC BCAS1 SYNONYMOUS SNP Somatic 11 0.400 SQHIGH 18 29 48 0 59 59 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8537 20 52612560 52612560 73 ALL relapse snv GRIK1 missense V616M NM_000830 10-PANZXC GRIK1 MISSENSE SNP Somatic PFAM:PF00060:Lig_chan 3 0.170 SQHIGH 34 51 85 0 42 42 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2897 21 30953811 30953811 72 ALL relapse snv ZBTB21 nonsense Q261* NM_001098402 10-PANZXC ZBTB21 NONSENSE SNP Somatic 5 0.207 SQHIGH 27 63 90 2 55 57 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 49854 21 43413424 43413424 45 ALL relapse snv PDXK missense I162N NM_003681 10-PANZXC PDXK MISSENSE SNP Somatic PFAM:PF00294:PfkB 6 0.235 SQHIGH 19 46 65 0 30 30 T T A T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8566 21 45170401 45170401 36 ALL relapse snv C21orf33 silent K223K NM_004649 10-PANZXC C21orf33 SYNONYMOUS SNP Somatic 6 0.235 SQHIGH 17 44 61 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8209 21 45563234 45563234 53 ALL relapse snv PFKL missense R98C NM_002626 10-PANZXC PFKL MISSENSE,UTR SNP Somatic 3 0.170 SQHIGH 26 38 64 0 41 41 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5211 21 45732042 45732042 67 ALL relapse snv PFKL missense L505V NM_002626 10-PANZXC PFKL MISSENSE,UTR SNP Somatic 8 0.289 SQHIGH 38 50 88 0 53 53 C C G C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5211 21 45743664 45743664 95 ALL relapse snv TRPM2 nonsense Q90* NM_003307 10-PANZXC TRPM2 NONSENSE,UTR SNP Somatic -2 0.109 SQHIGH 20 87 107 1 47 48 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 7226 21 45784010 45784010 26 ALL relapse snv PTTG1IP missense A86V NM_004339 10-PANZXC PTTG1IP MISSENSE SNP Somatic 5 0.207 SQHIGH 22 38 60 1 53 54 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 754 21 46281098 46281098 60 ALL relapse snv TSSK2 missense E339K NM_053006 10-PANZXC DGCR14|TSSK2 UTR3|MISSENSE SNP dbsnp.134:rs140549220 Somatic 12 0.449 SQHIGH 17 31 48 0 59 59 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8220|23617 22 19119927 19119927 67 ALL relapse snv DGCR8 missense A24T NM_022720 10-PANZXC MIR1306|DGCR8 TSS-UPSTREAM|MISSENSE SNP Somatic 20 1.000 SQHIGH 18 14 32 1 48 49 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100302197|54487 22 20073556 20073556 78 ALL relapse snv TRMT2A silent G248G NM_022727 10-PANZXC RANBP1|TRMT2A TSS-UPSTREAM|SYNONYMOUS SNP Somatic 6 0.235 SQHIGH 30 30 60 1 46 47 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 5902|27037 22 20102935 20102935 81 ALL relapse snv PPIL2 splice_region G99_E6splice_region NM_014337 10-PANZXC PPIL2 INTRON SNP Somatic 0 0.130 SQHIGH 8 22 30 0 55 55 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23759 22 22029412 22029412 39 ALL relapse snv SLC2A11 silent S8S NM_001024939 10-PANZXC SLC2A11 SYNONYMOUS,INTRON SNP Somatic 10 0.356 SQHIGH 23 27 50 0 53 53 Cosmic_Gene T T C T T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 66035 22 24200210 24200210 87 ALL relapse snv NIPSNAP1 splice F76_E3splice NM_003634 10-PANZXC NIPSNAP1 ACCEPTOR SNP Somatic 7 0.260 SQHIGH 29 33 62 1 75 76 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 8508 22 29966199 29966199 108 ALL relapse snv PRR14L missense I713K NM_173566 10-PANZXC PRR14L MISSENSE SNP Somatic 5 0.207 SQHIGH 22 29 51 0 55 55 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 253143 22 32111687 32111687 83 ALL relapse snv PRR14L silent Q710Q NM_173566 10-PANZXC PRR14L SYNONYMOUS SNP Somatic 2 0.156 SQHIGH 27 41 68 0 57 57 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 253143 22 32111695 32111695 84 ALL relapse snv PRR14L missense M632I NM_173566 10-PANZXC PRR14L MISSENSE SNP Somatic 6 0.235 SQHIGH 29 42 71 0 55 55 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 253143 22 32111929 32111929 86 ALL relapse snv PRR14L missense I613K NM_173566 10-PANZXC PRR14L MISSENSE SNP Somatic 11 0.400 SQHIGH 16 25 41 0 52 52 Cosmic_Gene A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 253143 22 32111987 32111987 66 ALL relapse snv MCM5 splice S142_E5splice NM_006739 10-PANZXC MCM5 DISRUPT SNP Somatic 15 0.680 SQHIGH 35 43 78 0 64 64 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4174 22 35802545 35802545 111 ALL relapse snv MCM5 missense D143N NM_006739 10-PANZXC MCM5 MISSENSE SNP Somatic 15 0.680 SQHIGH 36 39 75 0 67 67 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 4174 22 35802549 35802549 123 ALL relapse snv CARD10 missense S293L NM_014550 10-PANZXC CARD10 MISSENSE SNP Somatic -9 0.062 SQHIGH 5 6 11 0 18 18 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 29775 22 37906250 37906250 24 ALL relapse snv CDC42EP1 missense A349T NM_152243 10-PANZXC LOC100652769|CDC42EP1 TSS-UPSTREAM|MISSENSE SNP Somatic -4 0.091 SQHIGH 12 18 30 1 24 25 G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100652769|11135 22 37964696 37964696 28 ALL relapse snv TRIOBP missense R139H NM_007032 10-PANZXC TRIOBP MISSENSE SNP dbsnp.134:rs146797661 Somatic 15 0.680 SQHIGH 27 31 58 0 58 58 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 11078 22 38151175 38151175 99 ALL relapse snv GCAT missense P3S NM_001171690 10-PANZXC GCAT MISSENSE SNP Somatic 15 0.680 SQHIGH 15 23 38 0 38 38 C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23464 22 38203981 38203981 53 ALL relapse snv ATF4 missense E60D NM_001675 10-PANZXC ATF4 MISSENSE SNP Somatic 15 0.680 SQHIGH 30 33 63 1 62 63 A A T A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 468 22 39917630 39917630 97 ALL relapse snv XPNPEP3 missense V447L NM_022098 10-PANZXC XPNPEP3 MISSENSE SNP Somatic 15 0.680 SQHIGH 13 21 34 0 54 54 G G T G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 63929 22 41320468 41320468 61 ALL relapse snv TTLL12 nonsense Q110* NM_015140 10-PANZXC TTLL12 NONSENSE SNP Somatic 6 0.235 SQHIGH 20 23 43 0 42 42 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23170 22 43579005 43579005 72 ALL relapse snv ZBED4 missense E265K NM_014838 10-PANZXC ZBED4 MISSENSE SNP Somatic 4 0.187 SQHIGH 23 37 60 0 74 74 Cosmic_Gene G G A G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9889 22 50278103 50278103 93 ALL relapse snv PLXNB2 silent E1021E NM_012401 10-PANZXC PLXNB2 SYNONYMOUS SNP Somatic 18 0.897 SQHIGH 15 16 31 0 41 41 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23654 22 50720667 50720667 66 ALL relapse snv LMF2 silent L598L NM_033200 10-PANZXC LMF2|NCAPH2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 7 0.260 SQHIGH 6 15 21 0 36 36 Cosmic_Gene C C T C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 91289|29781 22 50942258 50942258 28 ALL relapse snv LMF2 silent L525L NM_033200 10-PANZXC LMF2|NCAPH2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF06762:DUF1222 -4 0.091 SQHIGH 4 4 8 0 15 15 Cosmic_Gene C C G C C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 91289|29781 22 50943019 50943019 21 ALL relapse snv FTH1P18 silent G25G NM_001271682 10-PANZXC SNP Somatic 8 0.289 SQHIGH 12 2 14 0 12 12 G T G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D X 37061687 37061687 50 ALL relapse snv IQSEC2 silent Q88Q NM_001111125 10-PANZXC IQSEC2 SYNONYMOUS SNP Somatic 14 0.583 SQHIGH 8 1 9 0 13 13 Cosmic_Gene C T C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23096 X 53350058 53350058 46 ALL relapse snv EFNB1 missense R71W NM_004429 10-PANZXC EFNB1 MISSENSE SNP Somatic 16 0.752 SQHIGH 16 9 25 0 33 33 C T C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 1947 X 68058542 68058542 76 ALL relapse snv SOX3 missense R301H NM_005634 10-PANZXC SOX3 MISSENSE SNP Somatic 8 0.289 SQHIGH 12 5 17 0 8 8 Cosmic_Gene C T C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 6658 X 139586324 139586324 29 ALL relapse mnv VPS13D missense I884_H885>IY NM_015378 10-PANZXC VPS13D MISSENSE Sub Somatic -9 0.276 SQHIGH 19 32 51 1 61 62 Cosmic_Gene CC CC TT CC CC TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 55187 1 12336297 12336298 64 ALL relapse mnv FPGS missense G370K NM_004957 10-PANZXC FPGS MISSENSE Sub Somatic PFAM:PF02875:Mur_ligase_C -6 0.333 SQHIGH 8 7 15 0 17 17 GG GG AA GG GG TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 2356 9 130572010 130572011 32 ALL diagnosis snv INPP4A splice_region W527_E16splice_region NM_004027 10-PANZXC INPP4A DONOR SNP Somatic 1 0.150 SQHIGH 5 11 16 1 29 30 Cosmic_Gene A A G A A TARGET-10-PANZXC-09A-01D TARGET-10-PANZXC-10A-01D 3631 2 99170956 99170956 18 ALL diagnosis snv ENPEP silent Y253Y NM_001977 10-PANZXC ENPEP SYNONYMOUS SNP Somatic 11 0.407 SQHIGH 17 23 40 0 35 35 Cosmic_Gene C C T C C TARGET-10-PANZXC-09A-01D TARGET-10-PANZXC-10A-01D 2028 4 111409811 111409811 55 ALL diagnosis snv OGFRL1 missense S320A NM_024576 10-PANZXC OGFRL1 MISSENSE SNP Somatic PFAM:PF04664:OGFr_N -8 0.071 SQHIGH 8 36 44 1 40 41 T T G T T TARGET-10-PANZXC-09A-01D TARGET-10-PANZXC-10A-01D 79627 6 72011354 72011354 17 ALL diagnosis snv TRPM6 missense F1356S NM_017662 10-PANZXC TRPM6 MISSENSE SNP Somatic -2 0.115 SQHIGH 5 19 24 1 42 43 Cosmic_Gene A A G A A TARGET-10-PANZXC-09A-01D TARGET-10-PANZXC-10A-01D 140803 9 77377520 77377520 17 ALL diagnosis snv GRM5 missense R345Q NM_001143831 10-PANZXC GRM5 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor 7 0.266 SQHIGH 12 33 45 0 50 50 Cosmic_Gene C C T C C TARGET-10-PANZXC-09A-01D TARGET-10-PANZXC-10A-01D 2915 11 88386449 88386449 43 ALL diagnosis snv SMARCA4 silent G231G NM_001128849 10-PANZXC SMARCA4 SYNONYMOUS SNP Somatic -10 0.060 SQHIGH 5 38 43 0 47 47 Cosmic_Gene C C A C C TARGET-10-PANZXC-09A-01D TARGET-10-PANZXC-10A-01D 6597 19 11097202 11097202 17 ALL diagnosis snv SMARCA4 silent P232P NM_001128849 10-PANZXC SMARCA4 SYNONYMOUS SNP Somatic -8 0.071 SQHIGH 4 33 37 0 46 46 Cosmic_Gene T T C T T TARGET-10-PANZXC-09A-01D TARGET-10-PANZXC-10A-01D 6597 19 11097205 11097205 14 ALL diagnosis snv FTH1P18 silent G25G NM_001271682 10-PANZXC SNP Somatic 7 0.266 SQHIGH 6 2 8 0 12 12 G T G TARGET-10-PANZXC-09A-01D TARGET-10-PANZXC-10A-01D X 37061687 37061687 31 ALL diagnosis snv MPZL1 missense S260T NM_003953 10-PANZXZ MPZL1 UTR3,MISSENSE SNP Somatic -8 0.047 SQHIGH 6 54 60 0 48 48 Cosmic_Gene T T A T T TARGET-10-PANZXZ-09A-01D TARGET-10-PANZXZ-14A-01D 9019 1 167757126 167757126 16 ALL diagnosis snv R3HDM1 missense A588T NM_015361 10-PANZXZ R3HDM1 MISSENSE SNP Somatic 6 0.174 SQHIGH 5 10 15 0 13 13 Cosmic_Gene G G A G G TARGET-10-PANZXZ-09A-01D TARGET-10-PANZXZ-14A-01D 23518 2 136409441 136409441 15 ALL diagnosis snv STC2 silent I207I NM_003714 10-PANZXZ STC2 SYNONYMOUS SNP Somatic PFAM:PF03298:Stanniocalcin -4 0.065 SQHIGH 8 42 50 0 49 49 Cosmic_Gene G G T G G TARGET-10-PANZXZ-09A-01D TARGET-10-PANZXZ-14A-01D 8614 5 172745138 172745138 25 ALL diagnosis snv MOGAT2 missense A19G NM_025098 10-PANZXZ MOGAT2 MISSENSE SNP Somatic 5 0.153 SQHIGH 19 42 61 0 67 67 Cosmic_Gene C C G C C TARGET-10-PANZXZ-09A-01D TARGET-10-PANZXZ-14A-01D 80168 11 75428989 75428989 69 ALL diagnosis snv SPTBN5 silent L1363L NM_016642 10-PANZXZ SPTBN5 SYNONYMOUS SNP Somatic -5 0.059 SQHIGH 3 18 21 0 37 37 Cosmic_Gene G G C G G TARGET-10-PANZXZ-09A-01D TARGET-10-PANZXZ-14A-01D 51332 15 42168345 42168345 14 ALL diagnosis snv PTPRT missense G527S NM_133170 10-PANZXZ PTPRT MISSENSE SNP Somatic 2 0.115 SQHIGH 16 27 43 0 39 39 Cosmic_Gene C C T C C TARGET-10-PANZXZ-09A-01D TARGET-10-PANZXZ-14A-01D 11122 20 40980907 40980907 52 ALL diagnosis snv RRP7B EXON E11_exon NM_014509 10-PANZXZ RRP7B|SERHL2 UTR|INTRON SNP Somatic 6 0.174 SQHIGH 15 38 53 0 58 58 T T A T T TARGET-10-PANZXZ-09A-01D TARGET-10-PANZXZ-14A-01D 91695|253190 22 42969455 42969455 53 ALL diagnosis snv SLC15A4 missense P90T NM_145648 10-PAPACP SLC15A4 MISSENSE SNP Somatic -6 0.072 SQHIGH 3 4 7 0 13 13 G G T G G TARGET-10-PAPACP-03A-01D TARGET-10-PAPACP-14A-01D 121260 12 129308221 129308221 15 ALL diagnosis snv CHD8 silent P1996P NM_001170629 10-PAPACP CHD8|SNORD9 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -4 0.084 SQHIGH 8 19 27 0 21 21 Cosmic_Gene T T G T T TARGET-10-PAPACP-03A-01D TARGET-10-PAPACP-14A-01D 57680|692053 14 21861966 21861966 22 ALL relapse snv C1orf174 missense R197Q NM_207356 10-PAPACP C1orf174 MISSENSE SNP Somatic 10 0.363 SQHIGH 29 20 49 0 50 50 C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 339448 1 3807161 3807161 115 ALL relapse snv SZT2 missense S1816R NM_015284 10-PAPACP SZT2 MISSENSE SNP Somatic -8 0.061 SQHIGH 4 30 34 0 40 40 Cosmic_Gene C C G C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 23334 1 43898676 43898676 14 ALL relapse snv DAB1 missense E520Q NM_021080 10-PAPACP DAB1 MISSENSE SNP Somatic 12 0.455 SQHIGH 23 27 50 0 50 50 Cosmic_Gene C C G C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 1600 1 57476832 57476832 84 ALL relapse snv SPRED2 missense V41L NM_181784 10-PAPACP SPRED2 MISSENSE SNP Somatic 17 0.847 SQHIGH 13 16 29 0 32 32 Cosmic_Gene C C G C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 200734 2 65571936 65571936 50 ALL relapse snv NR1D2 missense R128P NM_005126 10-PAPACP NR1D2 MISSENSE SNP Somatic 7 0.270 SQHIGH 13 32 45 0 53 53 Cosmic_Gene G G C G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 9975 3 24001172 24001172 49 ALL relapse snv PDCD6IP missense D506N NM_013374 10-PAPACP PDCD6IP MISSENSE,UTR SNP Somatic 11 0.406 SQHIGH 16 15 31 0 21 21 Cosmic_Gene G G A G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 10015 3 33886955 33886955 45 ALL relapse snv PPP2R2C missense T144M NM_181876 10-PAPACP PPP2R2C MISSENSE SNP Somatic PFAM:PF00400:WD40 5 0.217 SQHIGH 16 16 32 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 5522 4 6377562 6377562 57 ALL relapse snv TTC29 missense R132G NM_031956 10-PAPACP TTC29 MISSENSE SNP Somatic 12 0.455 SQHIGH 27 16 43 2 44 46 T T C T T TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 83894 4 147830184 147830184 89 ALL relapse snv TRIM60 missense R332I NM_152620 10-PAPACP TRIM60 MISSENSE SNP Somatic -9 0.055 SQHIGH 11 9 20 0 25 25 Cosmic_Gene G G T G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 166655 4 165962219 165962219 48 ALL relapse snv ANXA6 missense A527P NM_001155 10-PAPACP ANXA6 MISSENSE SNP Somatic PFAM:PF00191:Annexin -5 0.078 SQHIGH 4 29 33 0 37 37 C C G C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 309 5 150490199 150490199 14 ALL relapse snv THBS2 missense R423Q NM_003247 10-PAPACP THBS2 MISSENSE SNP Somatic 4 0.189 SQHIGH 20 36 56 1 46 47 Cosmic_Gene C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 7058 6 169637752 169637752 50 ALL relapse snv FLNC missense A1318V NM_001458 10-PAPACP FLNC MISSENSE SNP Somatic PFAM:PF00630:Filamin 5 0.217 SQHIGH 13 20 33 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 2318 7 128486206 128486206 54 ALL relapse snv PTCH1 missense R1442P NM_000264 10-PAPACP PTCH1 MISSENSE SNP Somatic 7 0.270 SQHIGH 21 19 40 0 27 27 Cosmic_Gene C C G C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 5727 9 98209213 98209213 60 ALL relapse snv CYLC2 silent S130S NM_001340 10-PAPACP CYLC2 SYNONYMOUS SNP dbsnp.134:rs141648995 Somatic 19 0.971 SQHIGH 13 10 23 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 1539 9 105767303 105767303 72 ALL relapse snv PLCE1 missense V1009A NM_016341 10-PAPACP PLCE1 MISSENSE SNP Somatic 16 0.749 SQHIGH 17 20 37 1 44 45 Cosmic_Gene T T C T T TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 51196 10 96006308 96006308 59 ALL relapse snv OR5T3 missense G25C NM_001004747 10-PAPACP OR5T3 MISSENSE SNP Somatic 13 0.513 SQHIGH 13 19 32 0 38 38 G G T G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 390154 11 56019748 56019748 51 ALL relapse snv EEF1G missense P385L NM_001404 10-PAPACP EEF1G MISSENSE SNP Somatic 15 0.675 SQHIGH 21 24 45 1 48 49 G G A G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 1937 11 62327542 62327542 69 ALL relapse snv SHANK2 silent S862S NM_133266 10-PAPACP SHANK2 SYNONYMOUS SNP Somatic 15 0.675 SQHIGH 16 20 36 0 51 51 Cosmic_Gene C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 22941 11 70332048 70332048 72 ALL relapse snv IL26 missense C79S NM_018402 10-PAPACP IL26 MISSENSE SNP Somatic PFAM:PF00726:IL10 16 0.749 SQHIGH 19 14 33 0 28 28 C C G C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 55801 12 68619056 68619056 66 ALL relapse snv PTPN11 missense G60V NM_002834 10-PAPACP PTPN11 MISSENSE SNP Somatic 6 0.245 SQHIGH 13 14 27 0 24 24 COSMIC:mut:13028 Cosmic_Gene G G T G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 5781 12 112888163 112888163 44 ALL relapse snv ZMYM2 missense R1086K NM_003453 10-PAPACP ZMYM2 MISSENSE SNP Somatic 5 0.217 SQHIGH 11 12 23 1 35 36 Cosmic_Gene G G A G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 7750 13 20641115 20641115 43 ALL relapse snv FAM81A missense R233W NM_152450 10-PAPACP FAM81A MISSENSE SNP Somatic PFAM:PF12128:DUF3584 9 0.329 SQHIGH 7 13 20 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 145773 15 59806534 59806534 30 ALL relapse snv FAM57B missense A111V NM_031478 10-PAPACP FAM57B MISSENSE SNP dbsnp.134:rs140155911 Somatic PFAM:PF03798:TRAM_LAG1_CLN8 16 0.749 SQHIGH 19 20 39 0 51 51 G G A G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 83723 16 30038042 30038042 83 ALL relapse snv ATP8B1 missense R683Q NM_005603 10-PAPACP ATP8B1 MISSENSE SNP Somatic 15 0.675 SQHIGH 17 21 38 0 26 26 Cosmic_Gene C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 5205 18 55336599 55336599 47 ALL relapse snv NFATC1 silent P875P NM_001278669 10-PAPACP NFATC1 SYNONYMOUS,INTRON SNP Somatic -4 0.084 SQHIGH 14 22 36 0 18 18 Cosmic_Gene G G A G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 4772 18 77246780 77246780 29 ALL relapse snv CRLF1 silent H377H NM_004750 10-PAPACP CRLF1 SYNONYMOUS SNP Somatic -8 0.061 SQHIGH 4 9 13 0 21 21 Cosmic_Gene G G A G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 9244 19 18705138 18705138 18 ALL relapse snv VSTM2B missense T226M NM_001146339 10-PAPACP LOC284395|VSTM2B TSS-UPSTREAM|MISSENSE SNP Somatic -10 0.052 SQHIGH 3 4 7 0 14 14 C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 284395|342865 19 30021105 30021105 16 ALL relapse snv CLDN14 silent Q65Q NM_144492 10-PAPACP CLDN14 SYNONYMOUS SNP Somatic PFAM:PF00822:PMP22_Claudin 6 0.245 SQHIGH 17 53 70 0 45 45 C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 23562 21 37833799 37833799 40 ALL relapse snv PRDM15 missense A490V NM_022115 10-PAPACP PRDM15 MISSENSE SNP Somatic PFAM:PF00856:SET -3 0.093 SQHIGH 14 42 56 1 24 25 G G A G G TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 63977 21 43274842 43274842 17 ALL relapse snv TRAPPC10 missense V924A NM_003274 10-PAPACP TRAPPC10 MISSENSE SNP Somatic -6 0.071 SQHIGH 23 93 116 0 57 57 Cosmic_Gene T T C T T TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 7109 21 45509715 45509715 43 ALL relapse snv COL18A1 missense A102V NM_030582 10-PAPACP COL18A1 INTRON,MISSENSE SNP Somatic PFAM:PF06121:DUF959 1 0.139 SQHIGH 15 43 58 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 80781 21 46875749 46875749 33 ALL relapse snv APOL1 missense T367A NM_003661 10-PAPACP APOL1 MISSENSE SNP Somatic PFAM:PF05461:ApoL -10 0.052 SQHIGH 4 27 31 0 47 47 Cosmic_Gene A A G A A TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 8542 22 36661981 36661981 17 ALL relapse snv SLC7A3 missense G249S NM_032803 10-PAPACP SLC7A3 MISSENSE SNP Somatic PFAM:PF01490:Aa_trans 2 0.154 SQHIGH 29 49 78 2 52 54 Cosmic_Gene C C T C C TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 84889 X 70148070 70148070 57 ALL relapse complex CREBBP frameshift L833_N834fs NM_004380 10-PAPACP CREBBP FRAMESHIFT Sub Somatic PFAM:PF09770:PAT1 -1 0.542 SQHIGH 5 10 15 0 44 44 Cosmic_Gene GTTGA GTTGA GGACAG GTTGA GTTGA TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 1387 16 3820949 3820953 32 ALL relapse snv RCC2 missense A225V NM_018715 10-PAPAGK RCC2 MISSENSE SNP Somatic PFAM:PF00415:RCC1 2 0.117 SQHIGH 20 34 54 0 39 39 G G A G G TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 55920 1 17748769 17748769 55 ALL relapse snv DNAJC8 missense E213K NM_014280 10-PAPAGK DNAJC8 MISSENSE SNP Somatic 11 0.332 SQHIGH 9 24 33 0 51 51 C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 22826 1 28530260 28530260 40 ALL relapse snv NRAS missense G12S NM_002524 10-PAPAGK NRAS MISSENSE SNP dbsnp.133:rs121913250 Somatic 17 0.874 SQHIGH 31 34 65 0 59 59 COSMIC:mut:563 Cosmic_Gene C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 4893 1 115258748 115258748 107 ALL relapse snv DENND1B missense T290A NM_144977 10-PAPAGK DENND1B MISSENSE SNP Somatic PFAM:PF02141:DENN 9 0.257 SQHIGH 8 17 25 1 33 34 T T C T T TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 163486 1 197576256 197576256 25 ALL relapse snv RYR2 missense R1500H NM_001035 10-PAPAGK RYR2 MISSENSE SNP Somatic PFAM:PF00622:SPRY 7 0.201 SQHIGH 20 32 52 0 48 48 Cosmic_Gene G G A G G TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 6262 1 237758860 237758860 66 ALL relapse snv XPO1 missense E571K NM_003400 10-PAPAGK XPO1 MISSENSE SNP Somatic -1 0.089 SQHIGH 9 33 42 0 45 45 COSMIC:mut:96797 Cosmic_Gene C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 7514 2 61719472 61719472 31 ALL relapse snv ALMS1-IT1 EXON E9_exon NM_015120 10-PAPAGK ALMS1 INTRON SNP Somatic -2 0.080 SQHIGH 5 42 47 0 49 49 Cosmic_Gene C C G C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 7840 2 73684290 73684290 16 ALL relapse snv CNTNAP5 missense R643W NM_130773 10-PAPAGK CNTNAP5 MISSENSE SNP Somatic 15 0.673 SQHIGH 27 30 57 1 58 59 Cosmic_Gene C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 129684 2 125405388 125405388 89 ALL relapse snv TNFAIP6 missense F79V NM_007115 10-PAPAGK TNFAIP6|MIR4773-1 MISSENSE|TSS-UPSTREAM SNP Somatic 13 0.441 SQHIGH 14 16 30 0 37 37 T T G T T TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 7130|100616392 2 152222572 152222572 58 ALL relapse snv TRAK2 missense R320Q NM_015049 10-PAPAGK TRAK2 MISSENSE SNP Somatic PFAM:PF04849:HAP1_N 15 0.673 SQHIGH 13 20 33 0 48 48 C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 66008 2 202259537 202259537 58 ALL relapse snv H1FOO missense K237N NM_153833 10-PAPAGK H1FOO MISSENSE SNP Somatic -5 0.062 SQHIGH 6 11 17 0 13 13 Cosmic_Gene G G C G G TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 132243 3 129268176 129268176 17 ALL relapse snv LOC100507388 EXON E1_exon NM_015393 10-PAPAGK LOC100505505|PARM1 INTRON|INTRON SNP Somatic 6 0.180 SQHIGH 22 41 63 0 55 55 Cosmic_Gene A A G A A TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 100505505|25849 4 75894838 75894838 69 ALL relapse snv FAT1 missense V2471L NM_005245 10-PAPAGK FAT1 MISSENSE SNP Somatic 7 0.201 SQHIGH 28 45 73 0 62 62 Cosmic_Gene C C G C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 2195 4 187540329 187540329 88 ALL relapse snv RNF144B missense D299A NM_182757 10-PAPAGK RNF144B MISSENSE SNP Somatic 5 0.159 SQHIGH 21 44 65 0 73 73 A A C A A TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 255488 6 18465282 18465282 77 ALL relapse snv MCM9 missense Y463C NM_017696 10-PAPAGK MCM9 MISSENSE SNP dbsnp.132:rs111567589 Somatic PFAM:PF00485:PRK -7 0.054 SQHIGH 4 39 43 0 59 59 Cosmic_Gene T T C T T TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 254394 6 119150351 119150351 15 ALL relapse snv MCM9 missense Q462P NM_017696 10-PAPAGK MCM9 MISSENSE SNP dbsnp.132:rs112847923 Somatic PFAM:PF00485:PRK -10 0.042 SQHIGH 4 49 53 0 60 60 Cosmic_Gene T T G T T TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 254394 6 119150354 119150354 13 ALL relapse snv SYNE1 missense R6254H NM_182961 10-PAPAGK SYNE1 MISSENSE SNP Somatic -29 0.005 4 51 55 0 47 47 Cosmic_Gene C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 23345 6 152589245 152589245 11 ALL relapse snv IKZF1 missense C464R NM_006060 10-PAPAGK IKZF1 MISSENSE SNP Somatic 3 0.127 SQHIGH 14 39 53 1 42 43 Cosmic_Gene T T C T T TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 10320 7 50468155 50468155 31 ALL relapse snv CDK6 silent L42L NM_001259 10-PAPAGK CDK6 SYNONYMOUS SNP Somatic 0 0.097 SQHIGH 11 59 70 0 58 58 Cosmic_Gene C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 1021 7 92462512 92462512 31 ALL relapse snv TRRAP missense T1524P NM_003496 10-PAPAGK TRRAP MISSENSE SNP Somatic 11 0.332 SQHIGH 26 38 64 0 62 62 Cosmic_Gene A A C A A TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 8295 7 98545940 98545940 90 ALL relapse snv SPTAN1 missense A2221T NM_001130438 10-PAPAGK SPTAN1 MISSENSE SNP Somatic 10 0.290 SQHIGH 42 13 55 0 72 72 Cosmic_Gene G G A G G TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 6709 9 131389749 131389749 217 ALL relapse snv NT5C2 missense R238G NM_012229 10-PAPAGK NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 6 0.180 SQHIGH 8 11 19 0 33 33 G G C G G TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 22978 10 104857107 104857107 40 ALL relapse snv KCNQ1OT1 EXON E10_exon NM_000218 10-PAPAGK KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 17 0.874 SQHIGH 22 26 48 0 60 60 Cosmic_Gene T T C T T TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 3784|10984 11 2678556 2678556 92 ALL relapse snv TMTC1 missense K392N NM_175861 10-PAPAGK TMTC1 MISSENSE SNP Somatic 14 0.531 SQHIGH 17 24 41 0 40 40 C C G C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 83857 12 29725070 29725070 59 ALL relapse snv GAS2L3 missense P419L NM_174942 10-PAPAGK GAS2L3 MISSENSE SNP dbsnp.134:rs148236676 Somatic 6 0.180 SQHIGH 21 39 60 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 283431 12 101017839 101017839 70 ALL relapse snv BTBD11 silent P956P NM_001018072 10-PAPAGK BTBD11 SYNONYMOUS SNP dbsnp.134:rs145574284 Somatic PFAM:PF00651:BTB 2 0.117 SQHIGH 29 56 85 0 67 67 Cosmic_Gene G G A G G TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 121551 12 108035894 108035894 84 ALL relapse snv SRCIN1 missense T291M NM_025248 10-PAPAGK SRCIN1 MISSENSE SNP Somatic 4 0.141 SQHIGH 16 24 40 1 46 47 G G A G G TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 80725 17 36718527 36718527 52 ALL relapse snv MUC16 silent K7503K NM_024690 10-PAPAGK MUC16 SYNONYMOUS SNP Somatic 4 0.141 SQHIGH 38 49 87 0 72 72 Cosmic_Gene T T C T T TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 94025 19 9064937 9064937 120 ALL relapse snv FCGBP missense T678S NM_003890 10-PAPAGK FCGBP MISSENSE SNP Somatic PFAM:PF08742:C8 5 0.159 SQHIGH 21 45 66 0 68 68 Cosmic_Gene G G C G G TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 8857 19 40424170 40424170 73 ALL relapse snv KLK15 silent P134P NM_017509 10-PAPAGK KLK1|KLK15 TSS-UPSTREAM|SYNONYMOUS,INTRON SNP Somatic -4 0.067 SQHIGH 10 20 30 0 44 44 Cosmic_Gene C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 3816|55554 19 51330213 51330213 44 ALL relapse snv SHROOM2 nonsense Q1035* NM_001649 10-PAPAGK SHROOM2 NONSENSE SNP Somatic 14 0.531 SQHIGH 20 28 48 0 26 26 Cosmic_Gene C C T C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 357 X 9900426 9900426 45 ALL relapse mnv TOX silent M1>M NM_014729 10-PAPAGK LOC100505501|TOX TSS-UPSTREAM|MISSTART Sub Somatic -10 0.219 SQHIGH 9 58 67 0 108 108 Cosmic_Gene ATT ATT TCC ATT ATT TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 100505501|9760 8 60031545 60031547 39 ALL relapse complex TUBGCP6 proteinIns Y1435>YPTT NM_020461 10-PAPAGK TUBGCP6 INSERT+ Sub Somatic 0 0.565 SQHIGH 31 40 71 0 54 54 Cosmic_Gene GT GT GGGTGGTCGGG GT GT TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 85378 22 50658083 50658084 92 ALL diagnosis snv HSPG2 missense L1491H NM_005529 10-PAPAGK HSPG2 MISSENSE SNP Somatic PFAM:PF00052:Laminin_B 5 0.145 SQHIGH 14 31 45 0 66 66 Cosmic_Gene A A T A A TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 3339 1 22191490 22191490 61 ALL diagnosis snv NRAS missense G12S NM_002524 10-PAPAGK NRAS MISSENSE SNP dbsnp.133:rs121913250 Somatic -23 0.009 5 51 56 0 59 59 COSMIC:mut:563 Cosmic_Gene C C T C C TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 4893 1 115258748 115258748 16 ALL diagnosis snv ALK missense G1054S NM_004304 10-PAPAGK ALK MISSENSE SNP Somatic -1 0.079 SQHIGH 11 59 70 0 67 67 Cosmic_Gene C C T C C TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 238 2 29448339 29448339 34 ALL diagnosis snv GPR21 missense A244T NM_005294 10-PAPAGK GPR21|RABGAP1 MISSENSE|INTRON SNP Somatic PFAM:PF00001:7tm_1 6 0.166 SQHIGH 6 29 35 0 53 53 Cosmic_Gene G G A G G TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 2844|23637 9 125797575 125797575 25 ALL diagnosis snv FLT3 missense D835V NM_004119 10-PAPAGK FLT3 MISSENSE SNP dbsnp.133:rs121909646 Somatic PFAM:PF03109:ABC1 -3 0.065 SQHIGH 10 54 64 0 58 58 COSMIC:mut:784 Cosmic_Gene T T A T T TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 2322 13 28592641 28592641 30 ALL diagnosis snv KCTD13 missense S167P NM_178863 10-PAPAGK KCTD13 MISSENSE SNP Somatic 3 0.115 SQHIGH 5 28 33 0 48 48 A A G A A TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 253980 16 29923286 29923286 20 ALL diagnosis snv EXOC7 missense A553P NM_001013839 10-PAPAGK EXOC7 MISSENSE,UTR SNP Somatic PFAM:PF03081:Exo70 -5 0.055 SQHIGH 5 28 33 0 29 29 C C G C C TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 23265 17 74081450 74081450 14 ALL diagnosis snv MUC16 silent K7503K NM_024690 10-PAPAGK MUC16 SYNONYMOUS SNP Somatic 6 0.166 SQHIGH 28 49 77 0 72 72 Cosmic_Gene T T C T T TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 94025 19 9064937 9064937 93 ALL diagnosis snv PGLYRP2 missense A276T NM_052890 10-PAPAGK PGLYRP2 MISSENSE SNP dbsnp.134:rs144386607 Somatic -9 0.040 SQHIGH 8 43 51 0 66 66 Cosmic_Gene C C T C C TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 114770 19 15586655 15586655 30 ALL diagnosis snv FCGBP missense T678S NM_003890 10-PAPAGK FCGBP MISSENSE SNP Somatic PFAM:PF08742:C8 17 0.870 SQHIGH 38 29 67 0 68 68 Cosmic_Gene G G C G G TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 8857 19 40424170 40424170 148 ALL diagnosis snv PPP1R16B missense A125V NM_015568 10-PAPAGK PPP1R16B MISSENSE SNP Somatic PFAM:PF12796:Ank_2 5 0.145 SQHIGH 19 74 93 0 104 104 Cosmic_Gene C C T C C TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 26051 20 37524260 37524260 67 ALL diagnosis complex TUBGCP6 proteinIns Y1435>YPTT NM_020461 10-PAPAGK TUBGCP6 INSERT+ Sub Somatic -1 0.489 SQHIGH 31 29 60 0 51 51 Cosmic_Gene GT GT GGGTGGTCGGG GT GT TARGET-10-PAPAGK-09A-01D TARGET-10-PAPAGK-14A-01D 85378 22 50658083 50658084 104 ALL diagnosis snv DPH2 missense R463C NM_001384 10-PAPAIZ ATP6V0B|DPH2 TSS-UPSTREAM|MISSENSE SNP Somatic 5 0.170 SQHIGH 27 16 43 1 28 29 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 533|1802 1 44438128 44438128 70 ALL diagnosis snv OR6K2 missense A211T NM_001005279 10-PAPAIZ OR6K2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 11 0.350 SQHIGH 35 22 57 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 81448 1 158669812 158669812 127 ALL diagnosis snv NME7 missense M259V NM_013330 10-PAPAIZ NME7 MISSENSE SNP Somatic 7 0.225 SQHIGH 9 7 16 0 21 21 Cosmic_Gene T T C T T TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 29922 1 169206905 169206905 40 ALL diagnosis snv GREB1 missense W715G NM_014668 10-PAPAIZ GREB1 MISSENSE SNP Somatic 7 0.225 SQHIGH 8 28 36 1 29 30 Cosmic_Gene T T G T T TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 9687 2 11738095 11738095 16 ALL diagnosis snv CKAP2L missense R689H NM_152515 10-PAPAIZ CKAP2L MISSENSE SNP Somatic 13 0.451 SQHIGH 20 24 44 0 34 34 C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 150468 2 113496572 113496572 61 ALL diagnosis snv PLA2R1 missense R116H NM_007366 10-PAPAIZ PLA2R1 MISSENSE SNP Somatic PFAM:PF05588:Botulinum_HA-17 1 0.111 SQHIGH 7 19 26 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 22925 2 160901431 160901431 25 ALL diagnosis snv MUC13 missense A34V NM_033049 10-PAPAIZ MUC13 MISSENSE SNP Somatic 20 1.000 SQHIGH 16 16 32 1 40 41 G G A G G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 56667 3 124646789 124646789 58 ALL diagnosis snv EXOC3 missense N166S NM_007277 10-PAPAIZ EXOC3 MISSENSE SNP Somatic 15 0.629 SQHIGH 26 33 59 0 57 57 A A G A A TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 11336 5 453617 453617 92 ALL diagnosis snv WWC1 missense A763T NM_001161661 10-PAPAIZ WWC1 MISSENSE SNP Somatic 14 0.525 SQHIGH 22 21 43 0 48 48 Cosmic_Gene G G A G G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 23286 5 167868693 167868693 88 ALL diagnosis snv TTBK1 missense T835M NM_032538 10-PAPAIZ TTBK1 MISSENSE SNP Somatic 4 0.153 SQHIGH 20 43 63 1 45 46 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 84630 6 43250982 43250982 44 ALL diagnosis snv LCA5 silent L242L NM_181714 10-PAPAIZ LCA5 SYNONYMOUS SNP Somatic PFAM:PF05299:Peptidase_M61 8 0.249 SQHIGH 9 24 33 0 29 29 T T C T T TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 167691 6 80203462 80203462 27 ALL diagnosis snv LOC101928861 EXON E11_exon NM_021807 10-PAPAIZ EXOC4 INTRON SNP Somatic 8 0.249 SQHIGH 23 15 38 2 45 47 Cosmic_Gene T T A T T TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 60412 7 133509274 133509274 81 ALL diagnosis snv GLT6D1 missense P126T NM_182974 10-PAPAIZ GLT6D1 MISSENSE SNP Somatic PFAM:PF01644:Chitin_synth_1 14 0.525 SQHIGH 19 24 43 0 57 57 Cosmic_Gene G G T G G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 360203 9 138516398 138516398 82 ALL diagnosis snv PROSER2 silent S277S NM_153256 10-PAPAIZ LOC219731|C10orf47 INTRON|SYNONYMOUS SNP Somatic -1 0.091 SQHIGH 11 2 13 0 10 10 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 219731|254427 10 11911928 11911928 42 ALL diagnosis snv UBQLNL missense F194S NM_145053 10-PAPAIZ UBQLNL MISSENSE SNP Somatic 3 0.137 SQHIGH 14 47 61 0 48 48 Cosmic_Gene A A G A A TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 143630 11 5537091 5537091 39 ALL diagnosis snv OR8B4 missense V197L NM_001005196 10-PAPAIZ OR8B4 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.225 SQHIGH 19 24 43 0 46 46 Cosmic_Gene C C G C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 283162 11 124294179 124294179 72 ALL diagnosis snv KRAS missense G13D NM_033360 10-PAPAIZ KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic 14 0.525 SQHIGH 9 14 23 0 49 49 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 3845 12 25398281 25398281 50 ALL diagnosis snv TPP2 missense A385T NM_003291 10-PAPAIZ TPP2 MISSENSE SNP Somatic 16 0.703 SQHIGH 12 25 37 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 7174 13 103282454 103282454 44 ALL diagnosis snv PLEKHH1 missense R1086H NM_020715 10-PAPAIZ PLEKHH1 MISSENSE SNP Somatic 8 0.249 SQHIGH 23 45 68 1 46 47 G G A G G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 57475 14 68047728 68047728 49 ALL diagnosis snv ESRRB missense R179C NM_004452 10-PAPAIZ ESRRB MISSENSE SNP Somatic 5 0.170 SQHIGH 23 50 73 1 73 74 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 2103 14 76948379 76948379 67 ALL diagnosis snv TTC8 missense R385C NM_144596 10-PAPAIZ TTC8 MISSENSE SNP Somatic 4 0.153 SQHIGH 8 22 30 0 24 24 C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 123016 14 89337996 89337996 22 ALL diagnosis snv C16orf62 missense P481L NM_020314 10-PAPAIZ C16orf62 MISSENSE SNP Somatic -9 0.046 SQHIGH 6 44 50 0 46 46 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 57020 16 19628081 19628081 18 ALL diagnosis snv ITGB3 silent R604R NM_000212 10-PAPAIZ ITGB3 SYNONYMOUS SNP Somatic 11 0.350 SQHIGH 16 33 49 0 41 41 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 3690 17 45376795 45376795 48 ALL diagnosis snv RHBDF2 missense A784P NM_024599 10-PAPAIZ RHBDF2 MISSENSE SNP Somatic 1 0.111 SQHIGH 8 27 35 0 17 17 C C G C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 79651 17 74467936 74467936 15 ALL diagnosis snv ZNF516 missense L1159M NM_014643 10-PAPAIZ ZNF516 MISSENSE SNP Somatic -2 0.082 SQHIGH 5 21 26 0 45 45 Cosmic_Gene G G T G G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 9658 18 74074470 74074470 23 ALL diagnosis snv NLRP8 missense T1037M NM_176811 10-PAPAIZ NLRP8 MISSENSE SNP dbsnp.134:rs147035967 Somatic -7 0.054 SQHIGH 8 42 50 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 126205 19 56499242 56499242 28 ALL diagnosis snv CLIC6 missense G439R NM_053277 10-PAPAIZ CLIC6 MISSENSE SNP Somatic -4 0.068 SQHIGH 7 27 34 0 27 27 Cosmic_Gene G G A G G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 54102 21 36043002 36043002 19 ALL diagnosis snv NLGN3 missense V130I NM_181303 10-PAPAIZ NLGN3 MISSENSE SNP Somatic PFAM:PF00135:COesterase PFAM:PF06342:DUF1057 5 0.170 SQHIGH 29 70 99 1 58 59 Cosmic_Gene G G A G G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 54413 X 70367987 70367987 55 ALL diagnosis snv FAM3A splice_region A51_E3splice_region NM_021806 10-PAPAIZ FAM3A INTRON SNP Somatic -8 0.050 SQHIGH 12 60 72 0 55 55 Cosmic_Gene G G A G G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 60343 X 153740173 153740173 31 ALL diagnosis snv WWC1 missense E873K NM_001161661 10-PAPBES WWC1 MISSENSE SNP dbsnp.134:rs145748084 Somatic -2 0.117 SQHIGH 11 31 42 0 50 50 Cosmic_Gene G G A G G TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 23286 5 167881064 167881064 41 ALL diagnosis snv ADCY1 silent V1024V NM_021116 10-PAPBES ADCY1 SYNONYMOUS SNP Somatic -3 0.106 SQHIGH 6 9 15 0 10 10 Cosmic_Gene C C T C C TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 107 7 45753306 45753306 15 ALL diagnosis snv SPATA31E1 missense L1144M NM_178828 10-PAPBES SPATA31E1 MISSENSE SNP Somatic 16 0.757 SQHIGH 17 19 36 0 51 51 Cosmic_Gene C C A C C TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 286234 9 90502832 90502832 78 ALL diagnosis snv PABPC3 missense L592P NM_030979 10-PAPBES PABPC3 MISSENSE SNP Somatic PFAM:PF00658:PABP -8 0.067 SQHIGH 4 16 20 0 35 35 Cosmic_Gene T T C T T TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 5042 13 25672111 25672111 18 ALL diagnosis snv SPTBN5 missense A2347V NM_016642 10-PAPBES SPTBN5 MISSENSE SNP Somatic 14 0.618 SQHIGH 9 15 24 1 31 32 Cosmic_Gene G G A G G TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 51332 15 42156011 42156011 29 ALL diagnosis snv PRKCG missense R252C NM_002739 10-PAPBES PRKCG MISSENSE SNP Somatic 12 0.493 SQHIGH 29 17 46 1 46 47 Cosmic_Gene C C T C C TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 5582 19 54395830 54395830 104 ALL diagnosis snv NLRP5 silent T1073T NM_153447 10-PAPBES NLRP5 SYNONYMOUS SNP Somatic 12 0.493 SQHIGH 11 18 29 0 43 43 Cosmic_Gene G G A G G TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 126206 19 56565094 56565094 49 ALL diagnosis mnv TOP3A missense R926F NM_004618 10-PAPBES TOP3A MISSENSE Sub Somatic PFAM:PF06839:zf-GRF -6 0.367 SQHIGH 5 26 31 0 25 25 Cosmic_Gene TCT TCT AAA TCT TCT TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 7156 17 18181038 18181040 14 ALL diagnosis snv FHL3 missense Y27H NM_004468 10-PAPBFN FHL3 MISSENSE SNP Somatic 13 0.442 SQHIGH 16 25 41 0 40 40 A A G A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 2275 1 38465006 38465006 55 ALL diagnosis snv HCN3 missense F417L NM_020897 10-PAPBFN HCN3 MISSENSE SNP Somatic 15 0.592 SQHIGH 10 29 39 0 44 44 Cosmic_Gene T T C T T TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 57657 1 155255527 155255527 36 ALL diagnosis snv SERPINE2 silent T34T NM_006216 10-PAPBFN SERPINE2 SYNONYMOUS SNP Somatic 3 0.144 SQHIGH 12 23 35 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 5270 2 224866516 224866516 43 ALL diagnosis snv CACNA2D3 missense A650E NM_018398 10-PAPBFN CACNA2D3 MISSENSE SNP Somatic 7 0.232 SQHIGH 15 45 60 1 56 57 Cosmic_Gene C C A C C TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 55799 3 54919344 54919344 38 ALL diagnosis snv CTBP1-AS EXON E4_exon NM_001328 10-PAPBFN LOC285463|CTBP1 UTR|INTRON SNP Somatic 13 0.442 SQHIGH 18 19 37 0 51 51 Cosmic_Gene C C T C C TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 285463|1487 4 1211218 1211218 81 ALL diagnosis snv POLR2B missense K566N NM_000938 10-PAPBFN POLR2B MISSENSE SNP Somatic -5 0.072 SQHIGH 11 12 23 0 19 19 Cosmic_Gene G G T G G TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 5431 4 57877164 57877164 35 ALL diagnosis snv SENP6 missense N575S NM_015571 10-PAPBFN SENP6 MISSENSE SNP Somatic 0 0.109 SQHIGH 12 39 51 0 35 35 Cosmic_Gene A A G A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 26054 6 76386848 76386848 30 ALL diagnosis snv ERICH5 missense P90S NM_173549 10-PAPBFN C8orf47 INTRON,MISSENSE SNP Somatic 11 0.346 SQHIGH 14 21 35 0 37 37 C C T C C TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 203111 8 99101513 99101513 51 ALL diagnosis snv ECM2 missense Y324H NM_001393 10-PAPBFN CENPP|ECM2 INTRON|MISSENSE SNP Somatic 15 0.592 SQHIGH 15 24 39 0 34 34 Cosmic_Gene A A G A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 401541|1842 9 95276997 95276997 48 ALL diagnosis snv ELP4 splice_region G346_E8splice_region NM_019040 10-PAPBFN ELP4 INTRON SNP Somatic 0 0.109 SQHIGH 5 23 28 0 25 25 Cosmic_Gene A A G A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 26610 11 31669404 31669404 15 ALL diagnosis snv ZNF408 missense D262A NM_024741 10-PAPBFN ZNF408|ARHGAP1 MISSENSE|TSS-UPSTREAM SNP Somatic 15 0.592 SQHIGH 34 25 59 0 50 50 Cosmic_Gene A A C A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 79797|392 11 46726035 46726035 118 ALL diagnosis snv NXF1 missense V462A NM_006362 10-PAPBFN TMEM223|NXF1 TSS-UPSTREAM|UTR3,MISSENSE SNP Somatic -5 0.072 SQHIGH 8 35 43 0 29 29 Cosmic_Gene A A G A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 79064|10482 11 62563614 62563614 19 ALL diagnosis snv ARHGEF12 missense R625H NM_015313 10-PAPBFN ARHGEF12 MISSENSE SNP dbsnp.134:rs141324681 Somatic 0 0.109 SQHIGH 9 37 46 1 45 46 Cosmic_Gene G G A G G TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 23365 11 120322251 120322251 21 ALL diagnosis snv TMEM132D missense G211R NM_133448 10-PAPBFN TMEM132D MISSENSE SNP Somatic 4 0.159 SQHIGH 9 20 29 1 34 35 Cosmic_Gene C C T C C TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 121256 12 130184692 130184692 26 ALL diagnosis snv FUT8-AS1 EXON E1_exon NM_178155 10-PAPBFN LOC645431|FUT8 UTR|TSS-UPSTREAM,UTR5,UTR SNP Somatic 4 0.159 SQHIGH 12 45 57 2 47 49 Cosmic_Gene T T C T T TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 645431|2530 14 65877988 65877988 20 ALL diagnosis snv HERC1 silent G1803G NM_003922 10-PAPBFN HERC1 SYNONYMOUS SNP Somatic 14 0.511 SQHIGH 9 15 24 0 49 49 Cosmic_Gene A A G A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 8925 15 63986582 63986582 49 ALL diagnosis snv LOC100128006 EXON E12_exon NM_001146312 10-PAPBFN MYOCD INTRON SNP Somatic 6 0.207 SQHIGH 13 26 39 0 47 47 Cosmic_Gene A A G A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 93649 17 12663550 12663550 50 ALL diagnosis snv GFAP splice T302_E5splice NM_002055 10-PAPBFN GFAP DISRUPT SNP Somatic 15 0.592 SQHIGH 11 11 22 0 30 30 Cosmic_Gene A A G A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 2670 17 42989038 42989038 49 ALL diagnosis snv ZNF45 missense K389R NM_003425 10-PAPBFN ZNF45 MISSENSE SNP Somatic 7 0.232 SQHIGH 8 31 39 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 7596 19 44418422 44418422 24 ALL diagnosis snv PEX26 missense S8P NM_017929 10-PAPBFN PEX26 MISSENSE SNP Somatic PFAM:PF07163:Pex26 4 0.159 SQHIGH 10 31 41 1 32 33 Cosmic_Gene T T C T T TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 55670 22 18561164 18561164 20 ALL diagnosis snv SPRY3 missense R114Q NM_005840 10-PAPBFN SPRY3 MISSENSE SNP dbsnp.134:rs150318681 Somatic 13 0.442 SQHIGH 25 7 32 0 45 45 G G A G G TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 10251 X 155003874 155003874 135 ALL diagnosis snv CFAP221 silent N548N NM_001271049 10-PAPBSE CFAP221 SYNONYMOUS SNP dbsnp.134:rs143020544 Somatic -2 0.076 SQHIGH 6 10 16 0 9 9 C C T C C TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 200373 2 120385356 120385356 13 ALL diagnosis snv ANKUB1 silent A516A NM_001144960 10-PAPBSE ANKUB1 SYNONYMOUS SNP Somatic 10 0.275 SQHIGH 9 15 24 0 22 22 T T G T T TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 389161 3 149479358 149479358 29 ALL diagnosis snv ANKH missense R204C NM_054027 10-PAPBSE ANKH MISSENSE SNP Somatic PFAM:PF07260:ANKH -30 0.004 4 24 28 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 56172 5 14751255 14751255 16 ALL diagnosis snv FRAT1 missense R254C NM_005479 10-PAPBSE FRAT1 MISSENSE SNP Somatic -5 0.059 SQHIGH 6 27 33 0 18 18 C C T C C TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 10023 10 99079970 99079970 12 ALL diagnosis snv NAA40 missense K7R NM_024771 10-PAPBSE NAA40 MISSENSE SNP Somatic -2 0.076 SQHIGH 5 39 44 0 43 43 A A G A A TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 79829 11 63713325 63713325 15 ALL diagnosis snv NAA40 missense A8D NM_024771 10-PAPBSE NAA40 MISSENSE SNP Somatic -6 0.055 SQHIGH 5 45 50 0 42 42 C C A C C TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 79829 11 63713328 63713328 14 ALL diagnosis snv MRGPRF silent G340G NM_001098515 10-PAPBSE MRGPRF SYNONYMOUS SNP Somatic -4 0.064 SQHIGH 5 23 28 0 19 19 C C T C C TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 116535 11 68772758 68772758 12 ALL diagnosis snv ZNF384 missense V359A NM_133476 10-PAPBSE ZNF384 MISSENSE SNP Somatic 14 0.492 SQHIGH 13 26 39 0 23 23 Cosmic_Gene A A G A A TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 171017 12 6778270 6778270 30 ALL diagnosis snv ETV6 missense R105G NM_001987 10-PAPBSE ETV6 MISSENSE SNP Somatic 9 0.242 SQHIGH 6 10 16 0 47 47 Cosmic_Gene C C G C C TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 2120 12 11992223 11992223 39 ALL diagnosis snv CCDC63 missense L319I NM_152591 10-PAPBSE CCDC63 MISSENSE SNP Somatic 18 0.859 SQHIGH 15 22 37 0 47 47 Cosmic_Gene C C A C C TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 160762 12 111321935 111321935 62 ALL diagnosis snv ATG4D missense S138P NM_032885 10-PAPBSE ATG4D MISSENSE SNP Somatic PFAM:PF03416:Peptidase_C54 -10 0.040 SQHIGH 7 28 35 0 36 36 T T C T T TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 84971 19 10655725 10655725 23 ALL diagnosis complex PDZD3 frameshift H73fs NM_001168468 10-PAPBSE PDZD3 FRAMESHIFT,UTR Sub Somatic -6 0.315 SQHIGH 7 20 27 1 28 29 Cosmic_Gene AT AT AGG AT AT TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 79849 11 119057287 119057288 17 ALL diagnosis snv WHSC1 missense E1099K NM_133330 10-PAPBSY WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET -8 0.050 SQHIGH 11 56 67 0 58 58 Cosmic_Gene G G A G G TARGET-10-PAPBSY-09A-01D TARGET-10-PAPBSY-10A-01D 7468 4 1962801 1962801 32 ALL diagnosis snv ADCY2 missense W799C NM_020546 10-PAPBSY ADCY2 MISSENSE SNP Somatic 8 0.251 SQHIGH 22 12 34 0 36 36 Cosmic_Gene G G T G G TARGET-10-PAPBSY-09A-01D TARGET-10-PAPBSY-10A-01D 108 5 7784490 7784490 92 ALL diagnosis snv NEO1 nonsense L93* NM_002499 10-PAPBSY NEO1 NONSENSE SNP Somatic -3 0.075 SQHIGH 8 27 35 0 38 38 Cosmic_Gene T T A T T TARGET-10-PAPBSY-09A-01D TARGET-10-PAPBSY-10A-01D 4756 15 73409028 73409028 28 ALL diagnosis snv GPR112 missense R54Q NM_153834 10-PAPBSY GPR112 MISSENSE SNP dbsnp.134:rs138895359 Somatic PFAM:PF00354:Pentaxin 18 0.925 SQHIGH 17 4 21 0 15 15 Cosmic_Gene G A G TARGET-10-PAPBSY-09A-01D TARGET-10-PAPBSY-10A-01D 139378 X 135405027 135405027 62 ALL diagnosis snv GNB1 missense A92D NM_002074 10-PAPBZK GNB1 MISSENSE SNP Somatic 0 0.090 SQHIGH 8 39 47 0 40 40 G G T G G TARGET-10-PAPBZK-03A-01D TARGET-10-PAPBZK-10A-01D 2782 1 1736013 1736013 23 ALL diagnosis snv SLC35F1 silent A113A NM_001029858 10-PAPBZK SLC35F1 SYNONYMOUS SNP Somatic PFAM:PF06027:DUF914 -1 0.081 SQHIGH 7 34 41 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPBZK-03A-01D TARGET-10-PAPBZK-10A-01D 222553 6 118475773 118475773 28 ALL diagnosis snv ZNF598 missense R139W NM_178167 10-PAPBZK ZNF598 MISSENSE SNP Somatic 4 0.132 SQHIGH 6 27 33 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAPBZK-03A-01D TARGET-10-PAPBZK-10A-01D 90850 16 2053042 2053042 18 ALL relapse snv FRMPD2B EXON E29_exon NM_001018071 10-PAPCUR FRMPD2 UTR3,UTR SNP dbsnp.88:rs1540725 Somatic -3 0.088 SQHIGH 6 30 36 0 27 27 Cosmic_Gene A A G A A TARGET-10-PAPCUR-04A-01D TARGET-10-PAPCUR-10A-01D 143162 10 49364683 49364683 15 ALL diagnosis snv ZNF107 silent Y496Y NM_016220 10-PAPCUR ZNF107 SYNONYMOUS SNP Somatic -8 0.060 SQHIGH 5 23 28 0 32 32 Cosmic_Gene T T C T T TARGET-10-PAPCUR-09A-01D TARGET-10-PAPCUR-10A-01D 51427 7 64168170 64168170 17 ALL diagnosis snv CFAP61 missense S995T NM_015585 10-PAPCUR CFAP61 MISSENSE SNP Somatic -3 0.092 SQHIGH 6 38 44 0 27 27 Cosmic_Gene G G C G G TARGET-10-PAPCUR-09A-01D TARGET-10-PAPCUR-10A-01D 26074 20 20269440 20269440 13 ALL diagnosis snv SLC16A2 missense F246Y NM_006517 10-PAPCUR SLC16A2 MISSENSE SNP Somatic -8 0.060 SQHIGH 9 58 67 1 46 47 Cosmic_Gene T T A T T TARGET-10-PAPCUR-09A-01D TARGET-10-PAPCUR-10A-01D 6567 X 73744355 73744355 15 ALL relapse snv CLCNKA splice_region G120_E4splice_region NM_004070 10-PAPCVZ CLCNKA INTRON SNP Somatic 17 0.872 SQHIGH 32 32 64 0 87 87 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 1187 1 16351396 16351396 145 ALL relapse snv TACSTD2 missense D101N NM_002353 10-PAPCVZ TACSTD2 MISSENSE SNP Somatic 17 0.872 SQHIGH 17 18 35 0 63 63 C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 4070 1 59042528 59042528 90 ALL relapse snv PALMD nonsense S216* NM_017734 10-PAPCVZ PALMD NONSENSE SNP Somatic -1 0.142 SQHIGH 4 35 39 0 53 53 Cosmic_Gene C C A C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 54873 1 100154463 100154463 15 ALL relapse snv ARHGEF11 missense R46C NM_014784 10-PAPCVZ ARHGEF11 MISSENSE SNP Somatic 17 0.872 SQHIGH 33 30 63 0 58 58 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 9826 1 156954218 156954218 118 ALL relapse snv CFH missense F601C NM_000186 10-PAPCVZ CFH MISSENSE SNP Somatic PFAM:PF00084:Sushi 8 0.360 SQHIGH 8 21 29 0 25 25 Cosmic_Gene T T G T T TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 3075 1 196694356 196694356 24 ALL relapse snv APOB missense R3558H NM_000384 10-PAPCVZ APOB MISSENSE SNP Somatic 4 0.231 SQHIGH 13 53 66 1 51 52 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 338 2 21229067 21229067 27 ALL relapse snv ASXL2 nonsense R614* NM_018263 10-PAPCVZ ASXL2 NONSENSE SNP Somatic 6 0.298 SQHIGH 16 36 52 1 64 65 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 55252 2 25972585 25972585 52 ALL relapse snv ZEB2 missense H1038R NM_014795 10-PAPCVZ ZEB2 MISSENSE SNP Somatic 4 0.231 SQHIGH 13 67 80 0 69 69 Cosmic_Gene T T C T T TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 9839 2 145147550 145147550 37 ALL relapse snv LRP2 missense V1701M NM_004525 10-PAPCVZ LRP2 MISSENSE SNP Somatic 6 0.298 SQHIGH 24 43 67 0 76 76 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 4036 2 170088350 170088350 91 ALL relapse snv TTN missense A31015V NM_133378 10-PAPCVZ TTN|LOC100506866 MISSENSE|INTRON SNP Somatic -3 0.120 SQHIGH 9 56 65 1 58 59 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 7273|100506866 2 179400726 179400726 19 ALL relapse snv JAKMIP1 silent R199R NM_001099433 10-PAPCVZ JAKMIP1 SYNONYMOUS SNP Somatic 15 0.724 SQHIGH 14 24 38 0 62 62 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 152789 4 6107227 6107227 67 ALL relapse snv PCDH18 missense R582H NM_019035 10-PAPCVZ PCDH18 MISSENSE SNP Somatic 7 0.331 SQHIGH 23 36 59 1 51 52 COSMIC:mut:84869 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 54510 4 138451498 138451498 62 ALL relapse snv GPR98 silent T1060T NM_032119 10-PAPCVZ GPR98 SYNONYMOUS,UTR SNP Somatic PFAM:PF03160:Calx-beta 7 0.331 SQHIGH 8 30 38 0 44 44 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 84059 5 89943472 89943472 29 ALL relapse snv WWC1 silent P896P NM_001161661 10-PAPCVZ WWC1 SYNONYMOUS SNP Somatic 1 0.170 SQHIGH 31 54 85 1 75 76 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 23286 5 167882390 167882390 87 ALL relapse snv DSP splice_region R877_E18splice_region NM_004415 10-PAPCVZ DSP INTRON SNP Somatic -9 0.075 SQHIGH 6 66 72 0 45 45 Cosmic_Gene G G T G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 1832 6 7575730 7575730 13 ALL relapse snv MOGAT3 missense G271S NM_178176 10-PAPCVZ MOGAT3 MISSENSE SNP Somatic -4 0.111 SQHIGH 10 34 44 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 346606 7 100839528 100839528 30 ALL relapse snv NRG3 silent D608D NM_001010848 10-PAPCVZ NRG3 SYNONYMOUS SNP Somatic PFAM:PF02158:Neuregulin 10 0.430 SQHIGH 24 43 67 2 67 69 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 10718 10 84745094 84745094 64 ALL relapse snv LRIT1 missense A14V NM_015613 10-PAPCVZ RGR|LRIT1 TSS-UPSTREAM|MISSENSE SNP Somatic 6 0.298 SQHIGH 28 46 74 0 68 68 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 5995|26103 10 86001155 86001155 92 ALL relapse snv KNDC1 silent T115T NM_152643 10-PAPCVZ KNDC1 SYNONYMOUS SNP dbsnp.129:rs61750345 Somatic PFAM:PF03109:ABC1 3 0.208 SQHIGH 11 54 65 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 85442 10 134981801 134981801 32 ALL relapse snv STIM1 missense C49W NM_003156 10-PAPCVZ STIM1 MISSENSE SNP Somatic 9 0.393 SQHIGH 19 60 79 0 66 66 Cosmic_Gene C C G C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 6786 11 3988789 3988789 55 ALL relapse snv MICAL2 missense V126M NM_014632 10-PAPCVZ MICAL2 MISSENSE SNP Somatic PFAM:PF01494:FAD_binding_3 2 0.188 SQHIGH 34 66 100 0 88 88 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 9645 11 12225908 12225908 107 ALL relapse snv ARAP1 missense E26Q NM_015242 10-PAPCVZ ARAP1 MISSENSE SNP Somatic -5 0.102 SQHIGH 6 22 28 0 26 26 Cosmic_Gene C C G C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 116985 11 72423550 72423550 18 ALL relapse snv SRGAP1 missense P870L NM_020762 10-PAPCVZ SRGAP1 MISSENSE SNP dbsnp.134:rs144536347 Somatic 7 0.331 SQHIGH 16 47 63 0 63 63 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 57522 12 64521709 64521709 53 ALL relapse snv DEPDC4 silent E151E NM_152317 10-PAPCVZ DEPDC4|SCYL2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -1 0.142 SQHIGH 6 29 35 0 25 25 Cosmic_Gene T T C T T TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 120863|55681 12 100657376 100657376 15 ALL relapse snv ATP7B missense A209V NM_000053 10-PAPCVZ ATP7B MISSENSE SNP Somatic 9 0.393 SQHIGH 15 29 44 0 68 68 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 540 13 52548730 52548730 68 ALL relapse snv CHRNA3 silent K73K NM_000743 10-PAPCVZ CHRNA3 SYNONYMOUS SNP Somatic PFAM:PF02931:Neur_chan_LBD 17 0.872 SQHIGH 13 23 36 0 62 62 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 1136 15 78911121 78911121 64 ALL relapse snv TP53 missense R158C NM_000546 10-PAPCVZ TP53 MISSENSE SNP Somatic 3 0.208 SQHIGH 10 25 35 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 7157 17 7578458 7578458 43 ALL relapse snv KCNH6 silent P242P NM_030779 10-PAPCVZ KCNH6 SYNONYMOUS SNP Somatic 6 0.298 SQHIGH 15 41 56 0 55 55 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 81033 17 61611297 61611297 49 ALL relapse snv DOT1L missense R342W NM_032482 10-PAPCVZ DOT1L MISSENSE SNP Somatic 6 0.298 SQHIGH 12 15 27 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 84444 19 2210417 2210417 51 ALL relapse snv SCAF1 missense R1273H NM_021228 10-PAPCVZ SCAF1 MISSENSE SNP Somatic 13 0.573 SQHIGH 18 18 36 1 50 51 G G A G G TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 58506 19 50161535 50161535 72 ALL relapse snv TMEM211 splice A43_E3splice NM_001001663 10-PAPCVZ TMEM211 DISRUPT SNP Somatic 3 0.208 SQHIGH 9 60 69 2 84 86 T T A T T TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 255349 22 25331564 25331564 20 ALL diagnosis snv CLCNKA splice_region G120_E4splice_region NM_004070 10-PAPCVZ CLCNKA INTRON SNP Somatic 15 0.721 SQHIGH 26 32 58 0 87 87 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 1187 1 16351396 16351396 122 ALL diagnosis snv TACSTD2 missense D101N NM_002353 10-PAPCVZ TACSTD2 MISSENSE SNP Somatic 14 0.643 SQHIGH 18 24 42 0 63 63 C C T C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 4070 1 59042528 59042528 84 ALL diagnosis snv ARHGEF11 missense R46C NM_014784 10-PAPCVZ ARHGEF11 MISSENSE SNP Somatic 17 0.872 SQHIGH 33 35 68 0 58 58 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 9826 1 156954218 156954218 109 ALL diagnosis snv CFH missense F601C NM_000186 10-PAPCVZ CFH MISSENSE SNP Somatic PFAM:PF00084:Sushi 3 0.207 SQHIGH 6 19 25 0 25 25 Cosmic_Gene T T G T T TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 3075 1 196694356 196694356 20 ALL diagnosis snv ASXL2 nonsense R614* NM_018263 10-PAPCVZ ASXL2 NONSENSE SNP Somatic -2 0.129 SQHIGH 12 47 59 1 64 65 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 55252 2 25972585 25972585 33 ALL diagnosis snv PCDH18 missense R582H NM_019035 10-PAPCVZ PCDH18 MISSENSE SNP Somatic 6 0.298 SQHIGH 17 53 70 1 51 52 COSMIC:mut:84869 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 54510 4 138451498 138451498 35 ALL diagnosis snv WWC1 silent P896P NM_001161661 10-PAPCVZ WWC1 SYNONYMOUS SNP Somatic 3 0.207 SQHIGH 19 63 82 1 75 76 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 23286 5 167882390 167882390 48 ALL diagnosis snv MOGAT3 missense G271S NM_178176 10-PAPCVZ MOGAT3 MISSENSE SNP Somatic -4 0.110 SQHIGH 10 26 36 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 346606 7 100839528 100839528 36 ALL diagnosis snv POLB missense A110V NM_002690 10-PAPCVZ POLB MISSENSE SNP Somatic -3 0.118 SQHIGH 4 18 22 0 23 23 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 5423 8 42210045 42210045 13 ALL diagnosis snv PREX2 silent A195A NM_024870 10-PAPCVZ PREX2 SYNONYMOUS SNP Somatic -2 0.129 SQHIGH 6 24 30 0 23 23 Cosmic_Gene A A C A A TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 80243 8 68942773 68942773 16 ALL diagnosis snv IFNB1 missense Q69K NM_002176 10-PAPCVZ IFNB1 MISSENSE SNP Somatic -4 0.110 SQHIGH 4 22 26 0 32 32 Cosmic_Gene G G T G G TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 3456 9 21077664 21077664 15 ALL diagnosis snv NRG3 silent D608D NM_001010848 10-PAPCVZ NRG3 SYNONYMOUS SNP Somatic PFAM:PF02158:Neuregulin 4 0.230 SQHIGH 14 47 61 2 67 69 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 10718 10 84745094 84745094 33 ALL diagnosis snv LRIT1 missense A14V NM_015613 10-PAPCVZ RGR|LRIT1 TSS-UPSTREAM|MISSENSE SNP Somatic 8 0.359 SQHIGH 20 64 84 0 68 68 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 5995|26103 10 86001155 86001155 57 ALL diagnosis snv STIM1 missense C49W NM_003156 10-PAPCVZ STIM1 MISSENSE SNP Somatic 6 0.298 SQHIGH 21 54 75 0 66 66 Cosmic_Gene C C G C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 6786 11 3988789 3988789 64 ALL diagnosis snv MICAL2 missense V126M NM_014632 10-PAPCVZ MICAL2 MISSENSE SNP Somatic PFAM:PF01494:FAD_binding_3 2 0.188 SQHIGH 30 67 97 0 88 88 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 9645 11 12225908 12225908 95 ALL diagnosis snv SRGAP1 missense P870L NM_020762 10-PAPCVZ SRGAP1 MISSENSE SNP dbsnp.134:rs144536347 Somatic 5 0.255 SQHIGH 15 48 63 0 63 63 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 57522 12 64521709 64521709 49 ALL diagnosis snv CHRNA3 silent K73K NM_000743 10-PAPCVZ CHRNA3 SYNONYMOUS SNP Somatic PFAM:PF02931:Neur_chan_LBD 20 0.998 SQHIGH 17 22 39 0 62 62 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 1136 15 78911121 78911121 82 ALL diagnosis snv TP53 missense R158C NM_000546 10-PAPCVZ TP53 MISSENSE SNP Somatic 12 0.520 SQHIGH 16 32 48 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 7157 17 7578458 7578458 57 ALL diagnosis snv DOT1L missense R342W NM_032482 10-PAPCVZ DOT1L MISSENSE SNP Somatic -2 0.129 SQHIGH 8 17 25 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 84444 19 2210417 2210417 34 ALL relapse snv USH2A missense R562C NM_007123 10-PAPDJM USH2A MISSENSE SNP Somatic 19 0.978 SQHIGH 17 15 32 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 7399 1 216465673 216465673 71 ALL relapse snv BECN1P1 silent G265G NM_001290693 10-PAPDJM SNP Somatic 8 0.385 SQHIGH 16 25 41 0 30 30 C C T C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 1 242121863 242121863 45 ALL relapse snv CALCRL missense T191A NM_005795 10-PAPDJM CALCRL MISSENSE SNP Somatic PFAM:PF00002:7tm_2 10 0.480 SQHIGH 15 12 27 0 40 40 Cosmic_Gene T T C T T TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 10203 2 188228159 188228159 73 ALL relapse snv WHSC1 missense E1099K NM_133330 10-PAPDJM WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET 0 0.132 SQHIGH 16 16 32 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 7468 4 1962801 1962801 58 ALL relapse snv CSN3 missense T181M NM_005212 10-PAPDJM CSN3 MISSENSE SNP Somatic 17 0.910 SQHIGH 14 18 32 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 1448 4 71115169 71115169 53 ALL relapse snv C5orf28 missense R49G NM_022483 10-PAPDJM C5orf28 MISSENSE SNP Somatic 9 0.430 SQHIGH 17 17 34 0 36 36 G G C G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 64417 5 43453927 43453927 65 ALL relapse snv FER missense R23W NM_005246 10-PAPDJM FER MISSENSE SNP dbsnp.134:rs147858956 Somatic 9 0.430 SQHIGH 21 15 36 0 28 28 Cosmic_Gene C C T C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 2241 5 108133950 108133950 69 ALL relapse snv FAM154A missense D131N NM_153707 10-PAPDJM FAM154A MISSENSE SNP dbsnp.134:rs144484870 Somatic 15 0.786 SQHIGH 27 25 52 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 158297 9 18941665 18941665 99 ALL relapse snv NT5C2 missense R238G NM_012229 10-PAPDJM NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase -1 0.113 SQHIGH 12 18 30 0 21 21 G G C G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 22978 10 104857107 104857107 33 ALL relapse snv XPNPEP1 splice_region Y592_E20splice_region NM_020383 10-PAPDJM XPNPEP1 ACCEPTOR SNP dbsnp.134:rs148888527 Somatic 6 0.305 SQHIGH 16 41 57 0 55 55 Cosmic_Gene C C T C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 7511 10 111628474 111628474 52 ALL relapse snv ETV6 silent L95L NM_001987 10-PAPDJM ETV6 SYNONYMOUS SNP Somatic 1 0.152 SQHIGH 28 15 43 0 19 19 Cosmic_Gene G G C G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 2120 12 11992195 11992195 64 ALL relapse snv KRAS missense G13D NM_033360 10-PAPDJM KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic 2 0.175 SQHIGH 11 22 33 0 33 33 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 3845 12 25398281 25398281 37 ALL relapse snv CATSPERB missense R273C NM_024764 10-PAPDJM CATSPERB MISSENSE SNP Somatic 6 0.305 SQHIGH 21 31 52 0 35 35 Cosmic_Gene G G A G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 79820 14 92159484 92159484 56 ALL relapse snv ACAN silent P847P NM_001135 10-PAPDJM ACAN SYNONYMOUS SNP Somatic 11 0.534 SQHIGH 15 27 42 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 176 15 89398357 89398357 54 ALL relapse snv CAPN15 silent T303T NM_005632 10-PAPDJM CAPN15 SYNONYMOUS SNP Somatic -2 0.098 SQHIGH 9 9 18 0 14 14 Cosmic_Gene G G T G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 6650 16 597747 597747 28 ALL relapse snv CREBBP missense R1446C NM_004380 10-PAPDJM CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 -2 0.098 SQHIGH 23 25 48 0 40 40 COSMIC:mut:88749 Cosmic_Gene G G A G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 1387 16 3788618 3788618 74 ALL relapse snv ESRP2 missense Y159C NM_024939 10-PAPDJM ESRP2 MISSENSE SNP Somatic PFAM:PF00929:RNase_T 8 0.385 SQHIGH 17 21 38 0 64 64 Cosmic_Gene T T C T T TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 80004 16 68267751 68267751 85 ALL relapse snv KRT32 missense T318M NM_002278 10-PAPDJM KRT32 MISSENSE SNP Somatic PFAM:PF00038:Filament 9 0.430 SQHIGH 14 33 47 0 32 32 G G A G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 3882 17 39620373 39620373 36 ALL relapse snv CA4 silent A164A NM_000717 10-PAPDJM CA4 SYNONYMOUS SNP dbsnp.134:rs139119204 Somatic 4 0.229 SQHIGH 15 35 50 0 21 21 G G A G G TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 762 17 58235128 58235128 26 ALL relapse snv GCGR missense A178V NM_000160 10-PAPDJM GCGR MISSENSE SNP Somatic PFAM:PF00002:7tm_2 9 0.430 SQHIGH 13 29 42 0 32 32 C C T C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 2642 17 79769312 79769312 36 ALL relapse snv NOL4 missense R407P NM_003787 10-PAPDJM NOL4 MISSENSE,UTR SNP Somatic 7 0.345 SQHIGH 11 27 38 0 37 37 Cosmic_Gene C C G C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 8715 18 31538219 31538219 36 ALL relapse snv TNPO2 silent P832P NM_001136196 10-PAPDJM TNPO2 SYNONYMOUS SNP Somatic -8 0.050 SQHIGH 12 4 16 0 19 19 Cosmic_Gene C C T C C TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 30000 19 12812581 12812581 57 ALL diagnosis snv EPHA6 silent N785N NM_001080448 10-PAPDJM EPHA6 SYNONYMOUS SNP Somatic PFAM:PF03109:ABC1 3 0.210 SQHIGH 7 19 26 0 36 36 Cosmic_Gene C C T C C TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 285220 3 97251356 97251356 29 ALL diagnosis snv LPHN3 missense N359H NM_015236 10-PAPDJM LPHN3 MISSENSE SNP Somatic PFAM:PF02191:OLF -1 0.120 SQHIGH 11 47 58 0 43 43 Cosmic_Gene A A C A A TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 23284 4 62599152 62599152 28 ALL diagnosis snv GLYATL3 missense R222C NM_001010904 10-PAPDJM GLYATL3 MISSENSE SNP Somatic PFAM:PF01553:Acyltransferase -2 0.104 SQHIGH 13 50 63 0 31 31 C C T C C TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 389396 6 49494424 49494424 25 ALL diagnosis snv FUCA2 missense R202W NM_032020 10-PAPDJM FUCA2 MISSENSE SNP Somatic PFAM:PF01120:Alpha_L_fucos -6 0.068 SQHIGH 9 37 46 1 32 33 Cosmic_Gene G G A G G TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 2519 6 143825198 143825198 16 ALL diagnosis snv TRRAP missense E3107K NM_003496 10-PAPDJM TRRAP MISSENSE SNP Somatic PFAM:PF02259:FAT 3 0.210 SQHIGH 11 34 45 0 40 40 Cosmic_Gene G G A G G TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 8295 7 98586392 98586392 33 ALL diagnosis snv CSMD1 silent N881N NM_033225 10-PAPDJM CSMD1 SYNONYMOUS SNP Somatic 0 0.139 SQHIGH 13 32 45 0 35 35 Cosmic_Gene G G A G G TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 64478 8 3245155 3245155 36 ALL diagnosis snv TRPA1 silent G524G NM_007332 10-PAPDJM TRPA1|LOC100132891 SYNONYMOUS|UTR SNP Somatic PFAM:PF12796:Ank_2 5 0.274 SQHIGH 7 24 31 0 26 26 Cosmic_Gene G G A G G TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 8989|100132891 8 72966060 72966060 20 ALL diagnosis snv MYPN silent Y85Y NM_032578 10-PAPDJM MYPN SYNONYMOUS SNP Somatic 1 0.159 SQHIGH 14 52 66 0 28 28 Cosmic_Gene C C T C C TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 84665 10 69881450 69881450 24 ALL diagnosis snv C10orf76 missense R494W NM_024541 10-PAPDJM C10orf76 MISSENSE SNP dbsnp.134:rs145558318 Somatic PFAM:PF08427:DUF1741 6 0.320 SQHIGH 14 41 55 0 28 28 G G A G G TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 79591 10 103734984 103734984 28 ALL diagnosis snv KCNK4 missense T333P NM_033310 10-PAPDJM C11orf20|KCNK4 TSS-UPSTREAM|MISSENSE SNP Somatic -10 0.046 SQHIGH 5 12 17 0 13 13 A A C A A TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 25858|50801 11 64067013 64067013 14 ALL diagnosis snv KRAS missense G13D NM_033360 10-PAPDJM KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic 3 0.210 SQHIGH 14 17 31 0 33 33 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 3845 12 25398281 25398281 53 ALL diagnosis snv CNGB1 missense R199C NM_001297 10-PAPDJM CNGB1 MISSENSE SNP Somatic 8 0.404 SQHIGH 14 35 49 0 35 35 COSMIC:mut:84346 Cosmic_Gene G G A G G TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 1258 16 57993958 57993958 37 ALL diagnosis snv ESRP2 missense Y159C NM_024939 10-PAPDJM ESRP2 MISSENSE SNP Somatic PFAM:PF00929:RNase_T 2 0.183 SQHIGH 14 66 80 0 64 64 Cosmic_Gene T T C T T TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 80004 16 68267751 68267751 38 ALL diagnosis snv NEURL4 silent P25P NM_032442 10-PAPDJM NEURL4 SYNONYMOUS SNP Somatic -10 0.046 SQHIGH 10 24 34 0 16 16 Cosmic_Gene G G C G G TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 84461 17 7232557 7232557 19 ALL diagnosis snv HUNK missense R505H NM_014586 10-PAPDJM HUNK MISSENSE SNP Somatic -7 0.062 SQHIGH 18 103 121 0 47 47 Cosmic_Gene G G A G G TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 30811 21 33370866 33370866 27 ALL relapse snv FLG2 missense S2085C NM_001014342 10-PAPDKJ LOC339400|FLG2 INTRON|MISSENSE SNP Somatic 3 0.153 SQHIGH 27 51 78 0 81 81 Cosmic_Gene G G C G G TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 339400|388698 1 152324008 152324008 96 ALL relapse snv LRRTM1 missense G193E NM_178839 10-PAPDKJ LRRTM1|CTNNA2 MISSENSE|INTRON SNP Somatic 15 0.664 SQHIGH 9 20 29 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 347730|1496 2 80530367 80530367 38 ALL relapse snv RNPEPL1 missense T286M NM_018226 10-PAPDKJ RNPEPL1 MISSENSE SNP Somatic 20 1.000 SQHIGH 15 15 30 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 57140 2 241513227 241513227 70 ALL relapse snv GRM2 missense E318K NM_000839 10-PAPDKJ GRM2 INTRON,MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor 2 0.140 SQHIGH 13 38 51 1 60 61 Cosmic_Gene G G A G G TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 2912 3 51746990 51746990 39 ALL relapse snv PPP2R3A missense I850T NM_002718 10-PAPDKJ PPP2R3A MISSENSE SNP Somatic 7 0.233 SQHIGH 15 18 33 0 33 33 Cosmic_Gene T T C T T TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 5523 3 135797213 135797213 54 ALL relapse snv PARK2 missense R275Q NM_004562 10-PAPDKJ PARK2 MISSENSE SNP Somatic 5 0.188 SQHIGH 15 36 51 0 48 48 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 5071 6 162206851 162206851 48 ALL relapse snv MAD1L1 missense A155S NM_003550 10-PAPDKJ MAD1L1 MISSENSE SNP Somatic PFAM:PF05557:MAD 0 0.117 SQHIGH 5 17 22 0 19 19 Cosmic_Gene C C A C C TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 8379 7 2262218 2262218 15 ALL relapse snv GRM3 missense R68C NM_000840 10-PAPDKJ GRM3 MISSENSE SNP Somatic 8 0.260 SQHIGH 19 27 46 0 54 54 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 2913 7 86394663 86394663 75 ALL relapse snv MALRD1 missense S129C NM_001142308 10-PAPDKJ SNP Somatic 17 0.852 SQHIGH 14 19 33 0 30 30 A A T A A TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 10 19376813 19376813 47 ALL relapse snv OOSP2 missense C57G NM_173801 10-PAPDKJ OOSP2 MISSENSE SNP Somatic PFAM:PF00100:Zona_pellucida 7 0.233 SQHIGH 6 23 29 0 31 31 Cosmic_Gene T T G T T TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 219990 11 59811046 59811046 20 ALL relapse snv MDGA2 missense R584W NM_001113498 10-PAPDKJ MDGA2 MISSENSE SNP Somatic 5 0.188 SQHIGH 12 19 31 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 161357 14 47426709 47426709 43 ALL relapse snv THBS1 missense V134I NM_003246 10-PAPDKJ THBS1 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin 5 0.188 SQHIGH 15 37 52 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 7057 15 39874726 39874726 43 ALL relapse snv TXNDC11 missense A899T NM_015914 10-PAPDKJ TXNDC11 MISSENSE SNP Somatic PFAM:PF07926:TPR_MLP1_2 13 0.480 SQHIGH 27 30 57 0 57 57 C C T C C TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 51061 16 11773233 11773233 99 ALL relapse snv PLCB1 silent E279E NM_015192 10-PAPDKJ PLCB1 SYNONYMOUS SNP Somatic PFAM:PF09279:efhand_like 9 0.293 SQHIGH 21 31 52 0 43 43 Cosmic_Gene A A G A A TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 23236 20 8639326 8639326 65 ALL relapse snv MYO18B missense A2534V NM_032608 10-PAPDKJ MYO18B MISSENSE SNP Somatic 12 0.419 SQHIGH 12 26 38 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 84700 22 26423541 26423541 32 ALL diagnosis snv FLG2 missense S2085C NM_001014342 10-PAPDKJ LOC339400|FLG2 INTRON|MISSENSE SNP Somatic -6 0.070 SQHIGH 10 63 73 0 81 81 Cosmic_Gene G G C G G TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 339400|388698 1 152324008 152324008 34 ALL diagnosis snv RNPEPL1 missense T286M NM_018226 10-PAPDKJ RNPEPL1 MISSENSE SNP Somatic 19 0.975 SQHIGH 18 16 34 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 57140 2 241513227 241513227 79 ALL diagnosis snv PPP2R3A missense I850T NM_002718 10-PAPDKJ PPP2R3A MISSENSE SNP Somatic 6 0.223 SQHIGH 10 12 22 0 33 33 Cosmic_Gene T T C T T TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 5523 3 135797213 135797213 47 ALL diagnosis snv CARD6 missense P375S NM_032587 10-PAPDKJ CARD6 MISSENSE SNP dbsnp.132:rs113160122 Somatic -5 0.076 SQHIGH 8 53 61 0 70 70 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 84674 5 40852557 40852557 28 ALL diagnosis snv PCDHA4 missense E416K NM_018907 10-PAPDKJ PCDHA4|PCDHA1|PCDHA3|PCDHA2 MISSENSE|INTRON|INTRON|INTRON SNP Somatic -9 0.055 SQHIGH 7 34 41 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 56144|56147|56145|56146 5 140188018 140188018 24 ALL diagnosis snv PARK2 missense R275Q NM_004562 10-PAPDKJ PARK2 MISSENSE SNP Somatic 9 0.311 SQHIGH 13 30 43 0 48 48 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 5071 6 162206851 162206851 47 ALL diagnosis snv GRM3 missense R68C NM_000840 10-PAPDKJ GRM3 MISSENSE SNP Somatic 9 0.311 SQHIGH 28 27 55 0 54 54 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 2913 7 86394663 86394663 103 ALL diagnosis snv MALRD1 missense S129C NM_001142308 10-PAPDKJ SNP Somatic 16 0.752 SQHIGH 19 26 45 0 30 30 A A T A A TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 10 19376813 19376813 51 ALL diagnosis snv MDGA2 missense R584W NM_001113498 10-PAPDKJ MDGA2 MISSENSE SNP Somatic 5 0.199 SQHIGH 11 13 24 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 161357 14 47426709 47426709 48 ALL diagnosis snv THBS1 missense V134I NM_003246 10-PAPDKJ THBS1 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin 10 0.347 SQHIGH 12 28 40 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 7057 15 39874726 39874726 42 ALL diagnosis snv TXNDC11 missense A899T NM_015914 10-PAPDKJ TXNDC11 MISSENSE SNP Somatic PFAM:PF07926:TPR_MLP1_2 8 0.277 SQHIGH 27 35 62 0 57 57 C C T C C TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 51061 16 11773233 11773233 92 ALL diagnosis snv PLCB1 silent E279E NM_015192 10-PAPDKJ PLCB1 SYNONYMOUS SNP Somatic PFAM:PF09279:efhand_like 17 0.853 SQHIGH 20 20 40 0 43 43 Cosmic_Gene A A G A A TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 23236 20 8639326 8639326 78 ALL diagnosis snv MYO18B missense A2534V NM_032608 10-PAPDKJ MYO18B MISSENSE SNP Somatic 11 0.392 SQHIGH 19 29 48 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPDKJ-09A-01D TARGET-10-PAPDKJ-10A-01D 84700 22 26423541 26423541 44 ALL diagnosis snv IRS1 silent A203A NM_005544 10-PAPDNB IRS1 SYNONYMOUS SNP Somatic -3 0.066 SQHIGH 6 25 31 0 41 41 Cosmic_Gene G G T G G TARGET-10-PAPDNB-03A-01D TARGET-10-PAPDNB-10A-01D 3667 2 227662846 227662846 23 ALL diagnosis snv PAX7 silent P479P NM_002584 10-PAPDUF PAX7 SYNONYMOUS,INTRON SNP Somatic 11 0.400 SQHIGH 20 28 48 2 56 58 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 5081 1 19062407 19062407 60 ALL diagnosis snv NRAS missense Q61L NM_002524 10-PAPDUF NRAS MISSENSE SNP dbsnp.120:rs11554290 Somatic 2 0.152 SQHIGH 6 17 23 0 34 34 COSMIC:mut:583 Cosmic_Gene T T A T T TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 4893 1 115256529 115256529 26 ALL diagnosis snv HOXD4 silent G39G NM_014621 10-PAPDUF HOXD4 SYNONYMOUS SNP Somatic 6 0.244 SQHIGH 7 20 27 0 22 22 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 3233 2 177016478 177016478 20 ALL diagnosis snv CPS1 silent F815F NM_001122633 10-PAPDUF CPS1 SYNONYMOUS SNP Somatic 8 0.300 SQHIGH 8 9 17 0 17 17 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 1373 2 211476876 211476876 29 ALL diagnosis snv PPARGC1A silent R647R NM_013261 10-PAPDUF PPARGC1A SYNONYMOUS SNP Somatic 6 0.244 SQHIGH 19 46 65 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 10891 4 23814448 23814448 53 ALL diagnosis snv NPY2R nonsense Q261* NM_000910 10-PAPDUF NPY2R NONSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 11 0.400 SQHIGH 25 32 57 1 61 62 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 4887 4 156135872 156135872 83 ALL diagnosis snv ENPP6 missense A418S NM_153343 10-PAPDUF ENPP6 MISSENSE SNP Somatic 15 0.649 SQHIGH 15 20 35 0 24 24 Cosmic_Gene C C A C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 133121 4 185012401 185012401 41 ALL diagnosis snv ARRDC3 missense Q384L NM_020801 10-PAPDUF ARRDC3 MISSENSE SNP Somatic 11 0.400 SQHIGH 8 13 21 0 37 37 Cosmic_Gene T T A T T TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 57561 5 90669538 90669538 40 ALL diagnosis snv TTBK1 missense R585W NM_032538 10-PAPDUF TTBK1 MISSENSE SNP Somatic 15 0.649 SQHIGH 11 12 23 0 20 20 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 84630 6 43230855 43230855 36 ALL diagnosis snv DOCK5 missense E391K NM_024940 10-PAPDUF DOCK5 MISSENSE SNP Somatic 9 0.328 SQHIGH 15 11 26 0 27 27 Cosmic_Gene G G A G G TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 80005 8 25166420 25166420 59 ALL diagnosis snv VAV2 missense V436I NM_001134398 10-PAPDUF VAV2 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 -1 0.113 SQHIGH 7 28 35 0 58 58 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 7410 9 136653577 136653577 31 ALL diagnosis snv BEND7 missense G364R NM_152751 10-PAPDUF BEND7 MISSENSE SNP Somatic 6 0.244 SQHIGH 23 51 74 0 63 63 Cosmic_Gene C C G C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 222389 10 13481489 13481489 70 ALL diagnosis snv RBP3 silent T943T NM_002900 10-PAPDUF RBP3 SYNONYMOUS SNP Somatic -1 0.113 SQHIGH 10 50 60 0 66 66 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 5949 10 48388049 48388049 34 ALL diagnosis snv ARID5B missense R341Q NM_032199 10-PAPDUF ARID5B MISSENSE SNP Somatic PFAM:PF01388:ARID 7 0.272 SQHIGH 20 48 68 0 58 58 Cosmic_Gene G G A G G TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 84159 10 63817051 63817051 60 ALL diagnosis snv CTTN missense R316W NM_005231 10-PAPDUF CTTN MISSENSE SNP Somatic 12 0.448 SQHIGH 32 22 54 0 76 76 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 2017 11 70269090 70269090 155 ALL diagnosis snv CEP295 missense V2154D NM_033395 10-PAPDUF CEP295 MISSENSE SNP Somatic 5 0.207 SQHIGH 8 19 27 0 47 47 T T A T T TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 85459 11 93458959 93458959 38 ALL diagnosis snv KATNAL1 silent P101P NM_032116 10-PAPDUF KATNAL1 SYNONYMOUS SNP Somatic -7 0.068 SQHIGH 4 3 7 0 9 9 G G A G G TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 84056 13 30854220 30854220 17 ALL diagnosis snv FREM2 missense R692C NM_207361 10-PAPDUF FREM2 MISSENSE SNP Somatic 8 0.300 SQHIGH 20 32 52 0 58 58 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 341640 13 39263555 39263555 75 ALL diagnosis snv FBXO34 missense S594R NM_017943 10-PAPDUF FBXO34 MISSENSE SNP Somatic PFAM:PF00646:F-box -1 0.113 SQHIGH 13 38 51 0 40 40 Cosmic_Gene T T G T T TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 55030 14 55818890 55818890 36 ALL diagnosis snv DSEL nonsense W525* NM_032160 10-PAPDUF DSEL|LOC643542 NONSENSE|TSS-UPSTREAM SNP Somatic 19 0.948 SQHIGH 14 11 25 0 44 44 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 92126|643542 18 65180301 65180301 75 ALL diagnosis snv LIN37 splice_region R220_E9splice_region NM_019104 10-PAPDUF C19orf55|LIN37 TSS-UPSTREAM|ACCEPTOR SNP Somatic 16 0.719 SQHIGH 21 19 40 0 51 51 Cosmic_Gene C C T C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 148137|55957 19 36245289 36245289 92 ALL diagnosis snv ZNF155 missense G462W NM_003445 10-PAPDUF ZNF155|LOC100505743 MISSENSE|UTR SNP Somatic 12 0.448 SQHIGH 16 25 41 0 45 45 Cosmic_Gene G G T G G TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 7711|100505743 19 44501393 44501393 60 ALL diagnosis snv FUZ missense S243T NM_025129 10-PAPDUF FUZ MISSENSE,UTR SNP Somatic -10 0.054 SQHIGH 4 16 20 0 23 23 C C G C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 80199 19 50312478 50312478 14 ALL diagnosis snv ADAMTS1 silent F157F NM_006988 10-PAPDUF ADAMTS1 SYNONYMOUS SNP Somatic PFAM:PF01562:Pep_M12B_propep 10 0.362 SQHIGH 12 34 46 0 28 28 Cosmic_Gene G G A G G TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 9510 21 28216803 28216803 28 ALL diagnosis snv ARVCF missense S720F NM_001670 10-PAPDUF ARVCF MISSENSE SNP Somatic -7 0.068 SQHIGH 6 18 24 1 31 32 Cosmic_Gene G G A G G TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 421 22 19961246 19961246 17 ALL diagnosis mnv CSMD3 missense I1160T NM_198123 10-PAPDUF CSMD3|MIR2053 MISSENSE|TSS-UPSTREAM Sub Somatic -8 0.290 SQHIGH 5 7 12 0 18 18 Cosmic_Gene AA AA TG AA AA TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 114788|100302225 8 113650971 113650972 23 ALL relapse snv ZBTB40 nonsense Q1178* NM_001083621 10-PAPDUV ZBTB40 NONSENSE SNP Somatic 13 0.532 SQHIGH 26 43 69 1 64 65 Cosmic_Gene C C T C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 9923 1 22852701 22852701 75 ALL relapse snv HTR1D missense T151M NM_000864 10-PAPDUV HTR1D MISSENSE SNP Somatic PFAM:PF00001:7tm_1 11 0.415 SQHIGH 31 30 61 0 71 71 G G A G G TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 3352 1 23520261 23520261 128 ALL relapse snv CSF3R missense T618I NM_000760 10-PAPDUV MRPS15|CSF3R TSS-UPSTREAM|MISSENSE SNP Somatic 14 0.612 SQHIGH 30 34 64 0 85 85 Cosmic_Gene G G A G G TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 64960|1441 1 36933434 36933434 132 ALL relapse snv IGFN1 splice D3099_E15splice NM_001164586 10-PAPDUV IGFN1 MISSENSE SNP Somatic PFAM:PF00047:ig 9 0.325 SQHIGH 34 47 81 1 107 108 Cosmic_Gene G G A G G TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 91156 1 201184966 201184966 133 ALL relapse snv ACP1 missense A157V NM_007099 10-PAPDUV ACP1 MISSENSE,UTR SNP Somatic 18 0.903 SQHIGH 11 11 22 0 28 28 Cosmic_Gene C C T C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 52 2 277297 277297 47 ALL relapse snv CRIM1 missense F154L NM_016441 10-PAPDUV CRIM1 MISSENSE SNP Somatic 8 0.289 SQHIGH 23 34 57 0 67 67 Cosmic_Gene T T G T T TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 51232 2 36623887 36623887 91 ALL relapse snv GLI2 silent L182L NM_005270 10-PAPDUV GLI2 SYNONYMOUS SNP Somatic 6 0.232 SQHIGH 19 23 42 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 2736 2 121712909 121712909 66 ALL relapse snv COL5A2 missense P802L NM_000393 10-PAPDUV COL5A2 MISSENSE SNP Somatic 1 0.138 SQHIGH 8 9 17 0 13 13 Cosmic_Gene G G A G G TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 1290 2 189918925 189918925 24 ALL relapse snv C2orf47 missense K249M NM_024520 10-PAPDUV C2orf47 MISSENSE SNP Somatic 12 0.469 SQHIGH 19 25 44 0 30 30 A A T A A TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 79568 2 200826600 200826600 52 ALL relapse snv WWC2 silent S291S NM_024949 10-PAPDUV WWC2 SYNONYMOUS SNP Somatic 10 0.367 SQHIGH 20 14 34 2 40 42 Cosmic_Gene C C T C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 80014 4 184170007 184170007 68 ALL relapse snv PCDHA7 missense A567V NM_018910 10-PAPDUV PCDHA4|PCDHA1|PCDHA5|PCDHA6|PCDHA7|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON SNP Somatic 13 0.532 SQHIGH 13 8 21 1 23 24 Cosmic_Gene C C T C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 56144|56147|56143|56142|56141|56145|56146 5 140215668 140215668 45 ALL relapse snv DXO missense G120D NM_005510 10-PAPDUV STK19|DOM3Z TSS-UPSTREAM|MISSENSE SNP Somatic 12 0.469 SQHIGH 18 29 47 1 59 60 Cosmic_Gene C C T C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 8859|1797 6 31938922 31938922 63 ALL relapse snv BRAF missense G469A NM_004333 10-PAPDUV BRAF MISSENSE SNP dbsnp.133:rs121913355 Somatic PFAM:PF03109:ABC1 -1 0.113 SQHIGH 10 9 19 0 12 12 COSMIC:mut:460 Cosmic_Gene C C G C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 673 7 140481402 140481402 27 ALL relapse snv GPC5 nonsense R392* NM_004466 10-PAPDUV GPC5 NONSENSE SNP Somatic PFAM:PF01153:Glypican 10 0.367 SQHIGH 10 8 18 0 24 24 Cosmic_Gene C C T C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 2262 13 92408568 92408568 45 ALL relapse snv GPRC5B silent Y330Y NM_016235 10-PAPDUV GPRC5B SYNONYMOUS SNP Somatic 10 0.367 SQHIGH 28 29 57 0 70 70 Cosmic_Gene A A G A A TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 51704 16 19883178 19883178 118 ALL relapse snv MYO15A silent P481P NM_016239 10-PAPDUV MYO15A SYNONYMOUS SNP Somatic 13 0.532 SQHIGH 22 22 44 1 82 83 Cosmic_Gene G G A G G TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 51168 17 18023557 18023557 108 ALL relapse snv PLVAP missense L304V NM_031310 10-PAPDUV PLVAP MISSENSE SNP Somatic PFAM:PF06637:PV-1 8 0.289 SQHIGH 17 28 45 0 66 66 G G C G G TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 83483 19 17476364 17476364 76 ALL relapse snv HSPB6 missense A40P NM_144617 10-PAPDUV HSPB6|C19orf55 MISSENSE|TSS-UPSTREAM SNP Somatic -6 0.072 SQHIGH 5 22 27 0 34 34 Cosmic_Gene C C G C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 126393|148137 19 36247792 36247792 19 ALL relapse snv DGCR2 missense V368I NM_005137 10-PAPDUV DGCR2 MISSENSE,UTR SNP Somatic 12 0.469 SQHIGH 24 27 51 0 61 61 Cosmic_Gene C C T C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 9993 22 19029377 19029377 99 ALL relapse snv FAM47A silent T514T NM_203408 10-PAPDUV FAM47A SYNONYMOUS SNP Somatic -26 0.010 3 12 15 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 158724 X 34148854 34148854 14 ALL relapse snv RIBC1 missense R54H NM_001031745 10-PAPDUV RIBC1 MISSENSE SNP Somatic PFAM:PF05914:RIB43A 15 0.697 SQHIGH 24 14 38 0 48 48 G G A G G TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 158787 X 53454994 53454994 111 ALL relapse complex BPTF frameshift T2355_Q2364fs NM_182641 10-PAPDUV BPTF FRAMESHIFT Sub Somatic -3 0.455 SQHIGH 48 87 135 0 193 193 Cosmic_Gene ACTCCATCCCAACTGTCTCCTGGACAACAA ACTCCATCCCAACTGTCTCCTGGACAACAA AG ACTCCATCCCAACTGTCTCCTGGACAACAA ACTCCATCCCAACTGTCTCCTGGACAACAA TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 2186 17 65941887 65941916 211 ALL diagnosis snv ZBTB40 nonsense Q1178* NM_001083621 10-PAPDUV ZBTB40 NONSENSE SNP Somatic 13 0.528 SQHIGH 26 32 58 1 64 65 Cosmic_Gene C C T C C TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 9923 1 22852701 22852701 89 ALL diagnosis snv HTR1D missense T151M NM_000864 10-PAPDUV HTR1D MISSENSE SNP Somatic PFAM:PF00001:7tm_1 10 0.364 SQHIGH 41 30 71 0 71 71 G G A G G TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 3352 1 23520261 23520261 160 ALL diagnosis snv CSF3R missense T618I NM_000760 10-PAPDUV MRPS15|CSF3R TSS-UPSTREAM|MISSENSE SNP Somatic 13 0.528 SQHIGH 42 34 76 0 85 85 Cosmic_Gene G G A G G TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 64960|1441 1 36933434 36933434 173 ALL diagnosis snv NRAS missense G12D NM_002524 10-PAPDUV NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -1 0.113 SQHIGH 9 48 57 0 40 40 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 4893 1 115258747 115258747 22 ALL diagnosis snv ACP1 missense A157V NM_007099 10-PAPDUV ACP1 MISSENSE,UTR SNP Somatic 16 0.757 SQHIGH 10 10 20 0 28 28 Cosmic_Gene C C T C C TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 52 2 277297 277297 45 ALL diagnosis snv CRIM1 missense F154L NM_016441 10-PAPDUV CRIM1 MISSENSE SNP Somatic 9 0.322 SQHIGH 23 31 54 0 67 67 Cosmic_Gene T T G T T TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 51232 2 36623887 36623887 95 ALL diagnosis snv GLI2 silent L182L NM_005270 10-PAPDUV GLI2 SYNONYMOUS SNP Somatic 6 0.230 SQHIGH 17 23 40 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 2736 2 121712909 121712909 61 ALL diagnosis snv COL5A2 missense P802L NM_000393 10-PAPDUV COL5A2 MISSENSE SNP Somatic 0 0.125 SQHIGH 6 5 11 0 13 13 Cosmic_Gene G G A G G TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 1290 2 189918925 189918925 25 ALL diagnosis snv C7orf26 missense R147G NM_024067 10-PAPDUV C7orf26 MISSENSE SNP Somatic -6 0.072 SQHIGH 6 21 27 0 26 26 Cosmic_Gene A A G A A TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 79034 7 6634090 6634090 19 ALL diagnosis snv ANK1 missense A1580P NM_020476 10-PAPDUV ANK1 INTRON,MISSENSE SNP Somatic -9 0.056 SQHIGH 4 28 32 0 35 35 Cosmic_Gene C C G C C TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 286 8 41530230 41530230 13 ALL diagnosis snv OR2S2 missense I32F NM_019897 10-PAPDUV OR2S2 MISSENSE SNP Somatic -4 0.085 SQHIGH 8 27 35 2 38 40 Cosmic_Gene T T A T T TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 56656 9 35958002 35958002 16 ALL diagnosis snv GPC5 nonsense R392* NM_004466 10-PAPDUV GPC5 NONSENSE SNP Somatic PFAM:PF01153:Glypican 10 0.364 SQHIGH 9 8 17 0 24 24 Cosmic_Gene C C T C C TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 2262 13 92408568 92408568 42 ALL diagnosis snv MYO15A silent P481P NM_016239 10-PAPDUV MYO15A SYNONYMOUS SNP Somatic 13 0.528 SQHIGH 24 22 46 1 82 83 Cosmic_Gene G G A G G TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 51168 17 18023557 18023557 117 ALL diagnosis snv KCNH4 missense S172N NM_012285 10-PAPDUV KCNH4 MISSENSE SNP Somatic -6 0.072 SQHIGH 6 52 58 1 65 66 Cosmic_Gene C C T C C TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 23415 17 40330188 40330188 14 ALL diagnosis snv PLVAP missense L304V NM_031310 10-PAPDUV PLVAP MISSENSE SNP Somatic PFAM:PF06637:PV-1 8 0.287 SQHIGH 17 32 49 0 66 66 G G C G G TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 83483 19 17476364 17476364 71 ALL diagnosis snv DGCR2 missense V368I NM_005137 10-PAPDUV DGCR2 MISSENSE,UTR SNP Somatic 12 0.466 SQHIGH 20 21 41 0 61 61 Cosmic_Gene C C T C C TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 9993 22 19029377 19029377 95 ALL diagnosis snv RIBC1 missense R54H NM_001031745 10-PAPDUV RIBC1 MISSENSE SNP Somatic PFAM:PF05914:RIB43A 14 0.607 SQHIGH 18 22 40 0 48 48 G G A G G TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 158787 X 53454994 53454994 73 ALL relapse snv KCND3 silent C218C NM_004980 10-PAPDWT KCND3 SYNONYMOUS SNP Somatic 4 0.287 SQHIGH 13 17 30 1 41 42 Cosmic_Gene G G A G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 3752 1 112524695 112524695 48 ALL relapse snv NRAS missense G12A NM_002524 10-PAPDWT NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 1 0.212 SQHIGH 16 17 33 0 41 41 COSMIC:mut:565 Cosmic_Gene C C G C C TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 4893 1 115258747 115258747 68 ALL relapse snv ARHGAP30 silent P975P NM_001025598 10-PAPDWT USF1|ARHGAP30 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 3 0.260 SQHIGH 37 19 56 0 55 55 Cosmic_Gene A A G A A TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 7391|257106 1 161017886 161017886 150 ALL relapse snv HAAO missense R73W NM_012205 10-PAPDWT HAAO MISSENSE SNP dbsnp.126:rs34183220 Somatic PFAM:PF07883:Cupin_2 11 0.586 SQHIGH 17 16 33 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 23498 2 43010950 43010950 83 ALL relapse snv CCDC150 missense L349F NM_001080539 10-PAPDWT CCDC150 MISSENSE SNP Somatic -10 0.075 SQHIGH 3 9 12 0 19 19 G G T G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 284992 2 197538982 197538982 13 ALL relapse snv ADAM29 silent T791T NM_014269 10-PAPDWT ADAM29 SYNONYMOUS SNP Somatic 12 0.641 SQHIGH 19 23 42 0 52 52 Cosmic_Gene G G A G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 11086 4 175899049 175899049 79 ALL relapse snv MRPS30 missense D254Y NM_016640 10-PAPDWT LOC100506674|MRPS30 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF07147:PDCD9 11 0.586 SQHIGH 12 13 25 0 27 27 G G T G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 100506674|10884 5 44812029 44812029 46 ALL relapse snv FAXDC2 silent F59F NM_032385 10-PAPDWT FAXDC2 SYNONYMOUS SNP dbsnp.132:rs113230050 Somatic -1 0.172 SQHIGH 5 20 25 0 22 22 Cosmic_Gene A A G A A TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 10826 5 154214252 154214252 15 ALL relapse snv FRMD1 missense A25V NM_024919 10-PAPDWT FRMD1 TSS-UPSTREAM,MISSENSE SNP dbsnp.134:rs144351021 Somatic -3 0.138 SQHIGH 12 27 39 0 20 20 Cosmic_Gene G G A G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 79981 6 168479701 168479701 25 ALL relapse snv ZNF736 missense I305R NM_001170905 10-PAPDWT ZNF736 MISSENSE SNP Somatic -6 0.105 SQHIGH 4 31 35 0 38 38 T T G T T TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 728927 7 63809155 63809155 13 ALL relapse snv ZNF736 missense D310E NM_001170905 10-PAPDWT ZNF736 MISSENSE SNP Somatic -6 0.105 SQHIGH 4 30 34 0 37 37 C C G C C TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 728927 7 63809171 63809171 13 ALL relapse snv EZH2 missense E148G NM_001203247 10-PAPDWT EZH2 MISSENSE SNP Somatic 2 0.234 SQHIGH 7 9 16 1 20 21 Cosmic_Gene T T C T T TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 2146 7 148526861 148526861 22 ALL relapse snv CDK5 missense Y285D NM_004935 10-PAPDWT SLC4A2|CDK5 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03109:ABC1 -2 0.154 SQHIGH 6 20 26 0 22 22 Cosmic_Gene A A C A A TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 6522|1020 7 150751122 150751122 17 ALL relapse snv NECAB1 splice E87_E5splice NM_022351 10-PAPDWT NECAB1 ACCEPTOR SNP Somatic -9 0.081 SQHIGH 8 6 14 0 16 16 Cosmic_Gene C C T C C TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 64168 8 91893258 91893258 33 ALL relapse snv EXOSC3 splice_region R108_E1splice_region NM_016042 10-PAPDWT EXOSC3 INTRON SNP Somatic -4 0.125 SQHIGH 4 9 13 0 23 23 Cosmic_Gene A A C A A TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 51010 9 37784711 37784711 19 ALL relapse snv AGAP11 missense H11P NM_133447 10-PAPDWT AGAP11 MISSENSE SNP Somatic -2 0.154 SQHIGH 9 23 32 1 34 35 A A C A A TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 119385 10 88764099 88764099 24 ALL relapse snv RBM20 missense R518H NM_001134363 10-PAPDWT RBM20 MISSENSE SNP Somatic -2 0.154 SQHIGH 6 32 38 0 35 35 G G A G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 282996 10 112557291 112557291 18 ALL relapse snv CFAP46 missense V1304M NM_001200049 10-PAPDWT CFAP46 MISSENSE SNP Somatic 1 0.212 SQHIGH 10 20 30 0 24 24 C C T C C TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 100506209 10 134693025 134693025 29 ALL relapse snv GUCY1A2 silent P385P NM_000855 10-PAPDWT GUCY1A2 SYNONYMOUS SNP Somatic PFAM:PF07701:HNOBA 4 0.287 SQHIGH 21 16 37 1 47 48 Cosmic_Gene C C T C C TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 2977 11 106810237 106810237 83 ALL relapse snv FMNL3 missense R701Q NM_175736 10-PAPDWT FMNL3 MISSENSE SNP Somatic PFAM:PF02181:FH2 13 0.698 SQHIGH 10 18 28 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 91010 12 50043607 50043607 41 ALL relapse snv NBEA missense L300F NM_015678 10-PAPDWT NBEA MISSENSE SNP Somatic -10 0.075 SQHIGH 5 11 16 0 21 21 Cosmic_Gene A A T A A TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 26960 13 35624460 35624460 20 ALL relapse snv DUOXA1 missense F18L NM_144565 10-PAPDWT DUOXA1 MISSENSE SNP Somatic PFAM:PF10204:DuoxA 5 0.318 SQHIGH 13 19 32 1 34 35 Cosmic_Gene G G T G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 90527 15 45415159 45415159 39 ALL relapse snv CREBBP missense R1446H NM_004380 10-PAPDWT CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 -9 0.081 SQHIGH 23 28 51 0 31 31 COSMIC:mut:88748 Cosmic_Gene C C T C C TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 1387 16 3788617 3788617 58 ALL relapse snv GPR142 missense R339W NM_181790 10-PAPDWT GPR142 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF02118:Srg -5 0.114 SQHIGH 6 18 24 0 62 62 Cosmic_Gene C C T C C TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 350383 17 72368365 72368365 35 ALL relapse snv RPTOR splice_region K840_E21splice_region NM_020761 10-PAPDWT RPTOR INTRON SNP Somatic -1 0.172 SQHIGH 7 15 22 0 25 25 Cosmic_Gene G G A G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 57521 17 78882739 78882739 26 ALL relapse snv PALM3 missense E541G NM_001145028 10-PAPDWT PALM3 MISSENSE SNP Somatic 4 0.287 SQHIGH 32 42 74 1 91 92 Cosmic_Gene T T C T T TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 342979 19 14164817 14164817 119 ALL relapse snv NRIP1 silent V855V NM_003489 10-PAPDWT NRIP1 SYNONYMOUS SNP Somatic 0 0.191 SQHIGH 13 53 66 1 52 53 G G A G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 8204 21 16337949 16337949 27 ALL relapse snv ZNF185 missense A354P NM_007150 10-PAPDWT ZNF185 MISSENSE SNP Somatic 0 0.191 SQHIGH 15 35 50 0 58 58 Cosmic_Gene G G C G G TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 7739 X 152101457 152101457 56 ALL diagnosis snv NRAS missense G12A NM_002524 10-PAPDWT NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 1 0.176 SQHIGH 19 15 34 0 41 41 COSMIC:mut:565 Cosmic_Gene C C G C C TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 4893 1 115258747 115258747 82 ALL diagnosis snv HAAO missense R73W NM_012205 10-PAPDWT HAAO MISSENSE SNP dbsnp.126:rs34183220 Somatic PFAM:PF07883:Cupin_2 3 0.221 SQHIGH 10 25 35 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 23498 2 43010950 43010950 43 ALL diagnosis snv FBLN7 silent A52A NM_153214 10-PAPDWT FBLN7 SYNONYMOUS SNP Somatic -9 0.063 SQHIGH 3 6 9 0 18 18 Cosmic_Gene C C G C C TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 129804 2 112917333 112917333 15 ALL diagnosis snv ADAM29 silent T791T NM_014269 10-PAPDWT ADAM29 SYNONYMOUS SNP Somatic 14 0.727 SQHIGH 28 31 59 0 52 52 Cosmic_Gene G G A G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 11086 4 175899049 175899049 94 ALL diagnosis snv MRPS30 missense D254Y NM_016640 10-PAPDWT LOC100506674|MRPS30 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF07147:PDCD9 7 0.356 SQHIGH 10 16 26 0 27 27 G G T G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 100506674|10884 5 44812029 44812029 36 ALL diagnosis snv FRMD1 missense A25V NM_024919 10-PAPDWT FRMD1 TSS-UPSTREAM,MISSENSE SNP dbsnp.134:rs144351021 Somatic -8 0.069 SQHIGH 7 26 33 0 20 20 Cosmic_Gene G G A G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 79981 6 168479701 168479701 16 ALL diagnosis snv NECAB1 splice E87_E5splice NM_022351 10-PAPDWT NECAB1 ACCEPTOR SNP Somatic -9 0.063 SQHIGH 5 7 12 0 16 16 Cosmic_Gene C C T C C TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 64168 8 91893258 91893258 21 ALL diagnosis snv EXOSC3 splice_region R108_E1splice_region NM_016042 10-PAPDWT EXOSC3 INTRON SNP Somatic -1 0.140 SQHIGH 11 8 19 0 23 23 Cosmic_Gene A A C A A TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 51010 9 37784711 37784711 48 ALL diagnosis snv ANKS6 missense T738M NM_173551 10-PAPDWT ANKS6 MISSENSE SNP Somatic -3 0.109 SQHIGH 6 13 19 0 29 29 Cosmic_Gene G G A G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 203286 9 101518815 101518815 27 ALL diagnosis snv GTF3C4 missense S81F NM_012204 10-PAPDWT GTF3C4|DDX31 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF12657:TFIIIC_delta -1 0.140 SQHIGH 10 13 23 0 19 19 Cosmic_Gene C C T C C TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 9329|64794 9 135546227 135546227 31 ALL diagnosis snv MYBPC3 silent D880D NM_000256 10-PAPDWT MYBPC3 SYNONYMOUS SNP Somatic -8 0.069 SQHIGH 3 12 15 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 4607 11 47357525 47357525 15 ALL diagnosis snv FMNL3 missense R701Q NM_175736 10-PAPDWT FMNL3 MISSENSE SNP Somatic PFAM:PF02181:FH2 16 0.840 SQHIGH 14 22 36 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 91010 12 50043607 50043607 50 ALL diagnosis snv SSTR1 missense G204S NM_001049 10-PAPDWT SSTR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 2 0.197 SQHIGH 15 50 65 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 6751 14 38679204 38679204 32 ALL diagnosis snv DUOXA1 missense F18L NM_144565 10-PAPDWT DUOXA1 MISSENSE SNP Somatic PFAM:PF10204:DuoxA 5 0.278 SQHIGH 15 21 36 1 34 35 Cosmic_Gene G G T G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 90527 15 45415159 45415159 42 ALL diagnosis snv LCMT1-AS2 EXON E4_exon NM_016309 10-PAPDWT LOC100506655|LCMT1 UTR|INTRON SNP Somatic -5 0.091 SQHIGH 5 23 28 0 48 48 G G A G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 100506655|51451 16 25158783 25158783 23 ALL diagnosis snv RPTOR splice_region K840_E21splice_region NM_020761 10-PAPDWT RPTOR INTRON SNP Somatic 0 0.156 SQHIGH 10 7 17 0 25 25 Cosmic_Gene G G A G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 57521 17 78882739 78882739 49 ALL diagnosis snv PALM3 missense E541G NM_001145028 10-PAPDWT PALM3 MISSENSE SNP Somatic 13 0.660 SQHIGH 45 30 75 1 92 93 Cosmic_Gene T T C T T TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 342979 19 14164817 14164817 188 ALL diagnosis snv NRIP1 silent V855V NM_003489 10-PAPDWT NRIP1 SYNONYMOUS SNP Somatic 5 0.278 SQHIGH 23 59 82 1 52 53 G G A G G TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 8204 21 16337949 16337949 45 ALL diagnosis snv LAMA2 missense F1447I NM_000426 10-PAPEAB LAMA2 MISSENSE SNP Somatic PFAM:PF00053:Laminin_EGF 0 0.124 SQHIGH 4 11 15 0 17 17 Cosmic_Gene T T A T T TARGET-10-PAPEAB-03A-01D TARGET-10-PAPEAB-10A-01D 3908 6 129663515 129663515 14 ALL diagnosis snv FKBP15 silent H515H NM_015258 10-PAPEAB FKBP15 SYNONYMOUS SNP Somatic -8 0.061 SQHIGH 9 23 32 0 40 40 Cosmic_Gene A A G A A TARGET-10-PAPEAB-03A-01D TARGET-10-PAPEAB-10A-01D 23307 9 115947038 115947038 35 ALL relapse snv NRAS missense Q61K NM_002524 10-PAPEAB NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 10 0.397 SQHIGH 7 12 19 0 30 30 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 4893 1 115256530 115256530 32 ALL relapse snv ROBO1 missense P1304R NM_002941 10-PAPEAB ROBO1 MISSENSE SNP Somatic 12 0.483 SQHIGH 8 13 21 0 25 25 Cosmic_Gene G G C G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 6091 3 78667156 78667156 31 ALL relapse snv PDE6B missense R100H NM_000283 10-PAPEAB PDE6B MISSENSE SNP Somatic PFAM:PF01590:GAF 16 0.739 SQHIGH 12 15 27 0 22 22 G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 5158 4 619714 619714 37 ALL relapse snv POLR2B missense I256L NM_000938 10-PAPEAB POLR2B MISSENSE SNP Somatic PFAM:PF04565:RNA_pol_Rpb2_3 1 0.155 SQHIGH 8 15 23 0 17 17 Cosmic_Gene A A C A A TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 5431 4 57865813 57865813 22 ALL relapse snv PCDHGA1 missense P773H NM_018912 10-PAPEAB PCDHGA1 MISSENSE SNP Somatic 16 0.739 SQHIGH 11 9 20 0 24 24 Cosmic_Gene C C A C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 56114 5 140712569 140712569 47 ALL relapse snv ZNF783 silent K83K NM_001195220 10-PAPEAB ZNF783 SYNONYMOUS SNP Somatic PFAM:PF12417:DUF3669 13 0.532 SQHIGH 10 25 35 0 53 53 G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 100289678 7 148963650 148963650 44 ALL relapse snv SGK223 missense G577C NM_001080826 10-PAPEAB SGK223 MISSENSE SNP Somatic -8 0.069 SQHIGH 8 26 34 0 25 25 C C A C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 157285 8 8234190 8234190 21 ALL relapse snv ADAMDEC1 missense P182L NM_014479 10-PAPEAB ADAMDEC1 MISSENSE SNP Somatic 5 0.232 SQHIGH 21 15 36 0 19 19 Cosmic_Gene C C T C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 27299 8 24254887 24254887 52 ALL relapse snv FZD6 silent D105D NM_003506 10-PAPEAB FZD6 SYNONYMOUS SNP Somatic 10 0.397 SQHIGH 11 27 38 0 23 23 Cosmic_Gene T T C T T TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 8323 8 104330955 104330955 25 ALL relapse snv KCNQ3 splice_region V129_E1splice_region NM_004519 10-PAPEAB KCNQ3 DONOR SNP Somatic -6 0.082 SQHIGH 4 14 18 0 19 19 Cosmic_Gene T T C T T TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 3786 8 133492390 133492390 13 ALL relapse snv MPDZ missense Q910K NM_003829 10-PAPEAB MPDZ MISSENSE SNP Somatic 14 0.604 SQHIGH 15 17 32 0 45 45 Cosmic_Gene G G T G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 8777 9 13176338 13176338 68 ALL relapse snv RAPGEF1 silent P218P NM_005312 10-PAPEAB RAPGEF1 SYNONYMOUS SNP Somatic 11 0.436 SQHIGH 23 16 39 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 2889 9 134505658 134505658 87 ALL relapse snv LYZL1 silent S19S NM_032517 10-PAPEAB LYZL1 SYNONYMOUS SNP Somatic 16 0.739 SQHIGH 26 14 40 0 26 26 C C T C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 84569 10 29578103 29578103 79 ALL relapse snv TTC12 silent A106A NM_017868 10-PAPEAB TTC12 SYNONYMOUS SNP Somatic 13 0.532 SQHIGH 20 29 49 0 60 60 Cosmic_Gene G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 54970 11 113195400 113195400 81 ALL relapse snv ITGA7 silent S273S NM_001144996 10-PAPEAB ITGA7 SYNONYMOUS SNP Somatic PFAM:PF01839:FG-GAP 13 0.532 SQHIGH 23 17 40 1 50 51 Cosmic_Gene C C T C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 3679 12 56092685 56092685 91 ALL relapse snv MMP17 missense R319Q NM_016155 10-PAPEAB MMP17 MISSENSE SNP Somatic 18 0.891 SQHIGH 11 10 21 0 26 26 G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 4326 12 132328614 132328614 47 ALL relapse snv TMEM63C splice K117_E6splice NM_020431 10-PAPEAB TMEM63C DISRUPT SNP Somatic 6 0.269 SQHIGH 24 72 96 0 68 68 T T C T T TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 57156 14 77691806 77691806 62 ALL relapse snv CCDC88C missense A623S NM_001080414 10-PAPEAB CCDC88C MISSENSE SNP Somatic 6 0.269 SQHIGH 21 41 62 0 37 37 Cosmic_Gene C C A C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 440193 14 91780293 91780293 49 ALL relapse snv RTF1 missense R211C NM_015138 10-PAPEAB RTF1 MISSENSE SNP Somatic 10 0.397 SQHIGH 21 31 52 0 64 64 Cosmic_Gene C C T C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 23168 15 41750043 41750043 85 ALL relapse snv USP3-AS1 EXON E11_exon NM_006537 10-PAPEAB LOC100130855|USP3 UTR|INTRON SNP Somatic 19 0.954 SQHIGH 16 12 28 0 40 40 Cosmic_Gene G G T G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 100130855|9960 15 63880432 63880432 77 ALL relapse snv RTN4RL1 missense T225N NM_178568 10-PAPEAB RTN4RL1 MISSENSE SNP Somatic 7 0.300 SQHIGH 22 38 60 0 54 54 G G T G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 146760 17 1840442 1840442 71 ALL relapse snv CACNA1G missense A550T NM_018896 10-PAPEAB CACNA1G MISSENSE SNP Somatic 8 0.329 SQHIGH 13 31 44 1 44 45 Cosmic_Gene G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 8913 17 48653411 48653411 35 ALL relapse snv LPIN2 missense E414G NM_014646 10-PAPEAB LPIN2 MISSENSE SNP Somatic -6 0.082 SQHIGH 5 33 38 0 27 27 Cosmic_Gene T T C T T TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 9663 18 2934376 2934376 12 ALL relapse snv NCLN missense R73C NM_020170 10-PAPEAB NCLN MISSENSE SNP Somatic 1 0.155 SQHIGH 13 15 28 2 41 43 C C T C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 56926 19 3192500 3192500 44 ALL relapse snv ECSIT missense C270S NM_001243204 10-PAPEAB ZNF653|ECSIT TSS-UPSTREAM|SYNONYMOUS,INTRON,UTR SNP Somatic -7 0.075 SQHIGH 5 40 45 0 52 52 Cosmic_Gene C C G C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 115950|51295 19 11618532 11618532 17 ALL relapse snv ECSIT missense L309F NM_016581 10-PAPEAB ZNF653|ECSIT TSS-UPSTREAM|INTRON,MISSENSE,UTR SNP Somatic -6 0.082 SQHIGH 5 41 46 0 51 51 Cosmic_Gene C C G C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 115950|51295 19 11618535 11618535 17 ALL relapse snv EML2 missense D336N NM_012155 10-PAPEAB EML2 MISSENSE,UTR SNP Somatic PFAM:PF00400:WD40 12 0.483 SQHIGH 16 27 43 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 24139 19 46124581 46124581 56 ALL relapse snv ZNF160 nonsense Q228* NM_033288 10-PAPEAB ZNF160 NONSENSE SNP Somatic 19 0.954 SQHIGH 20 17 37 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 90338 19 53573105 53573105 81 ALL relapse snv NLRP9 splice_region W834_E6splice_region NM_176820 10-PAPEAB NLRP9 DONOR SNP Somatic 13 0.532 SQHIGH 17 22 39 0 47 47 Cosmic_Gene T T C T T TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 338321 19 56226415 56226415 69 ALL relapse snv LRRN4 silent Q498Q NM_152611 10-PAPEAB LRRN4 SYNONYMOUS SNP Somatic 6 0.269 SQHIGH 15 7 22 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 164312 20 6022397 6022397 73 ALL relapse snv PAK7 missense R674Q NM_020341 10-PAPEAB PAK7 MISSENSE SNP Somatic 8 0.329 SQHIGH 18 16 34 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 57144 20 9520248 9520248 69 ALL relapse snv SEC14L6 silent P234P NM_001193336 10-PAPEAB SEC14L6 SYNONYMOUS SNP Somatic 15 0.675 SQHIGH 15 22 37 0 60 60 G G C G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 730005 22 30921882 30921882 72 ALL relapse snv PHEX-AS1 EXON E13_exon NM_000444 10-PAPEAB PHEX INTRON SNP Somatic 4 0.211 SQHIGH 16 59 75 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 5251 X 22187945 22187945 33 ALL relapse snv DCAF8L2 silent F204F NM_001136533 10-PAPEAB DCAF8L2 SYNONYMOUS SNP Somatic 3 0.190 SQHIGH 7 25 32 0 23 23 Cosmic_Gene T T C T T TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 347442 X 27765624 27765624 18 ALL relapse snv PPP1R3F silent L478L NM_033215 10-PAPEAB PPP1R3F SYNONYMOUS SNP Somatic 4 0.211 SQHIGH 18 49 67 0 43 43 Cosmic_Gene G G T G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 89801 X 49142586 49142586 43 ALL relapse snv LAS1L missense Q350L NM_031206 10-PAPEAB LAS1L INTRON,MISSENSE SNP Somatic 7 0.300 SQHIGH 17 51 68 0 45 45 Cosmic_Gene T T A T T TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 81887 X 64744488 64744488 41 ALL relapse snv RPS6KA6 nonsense R442* NM_014496 10-PAPEAB RPS6KA6 NONSENSE SNP Somatic -3 0.105 SQHIGH 6 33 39 0 25 25 Cosmic_Gene G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 27330 X 83361414 83361414 14 ALL relapse snv CT55 nonsense R21* NM_001031705 10-PAPEAB CT55 NONSENSE SNP Somatic 6 0.269 SQHIGH 16 34 50 0 29 29 G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 54967 X 134305035 134305035 36 ALL relapse snv BRS3 missense A143T NM_001727 10-PAPEAB BRS3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 3 0.190 SQHIGH 29 53 82 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 680 X 135570700 135570700 54 ALL relapse mnv MSH6 splice V210_E4splice NM_000179 10-PAPEAB MSH6 DISRUPT Sub Somatic 1 0.690 SQHIGH 16 28 44 0 57 57 Cosmic_Gene AG AG CT AG AG TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 2956 2 48025748 48025749 66 ALL relapse snv C1orf167 missense E445Q NM_001010881 10-PAPECF C1orf167 MISSENSE SNP Somatic 15 0.693 SQHIGH 20 25 45 0 91 91 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 284498 1 11827311 11827311 111 ALL relapse snv LOC101929592 EXON E1_exon NM_174963 10-PAPECF ST3GAL3 INTRON SNP Somatic 9 0.322 SQHIGH 10 26 36 0 42 42 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 6487 1 44186210 44186210 37 ALL relapse snv OSBPL9 silent P21P NM_148904 10-PAPECF OSBPL9 SYNONYMOUS,UTR SNP Somatic 13 0.526 SQHIGH 14 13 27 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 114883 1 52226376 52226376 64 ALL relapse snv PARS2 silent L66L NM_152268 10-PAPECF PARS2 SYNONYMOUS SNP Somatic 4 0.182 SQHIGH 28 48 76 0 114 114 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 25973 1 55224637 55224637 127 ALL relapse snv SASS6 splice_region A383_E11splice_region NM_194292 10-PAPECF SASS6 ACCEPTOR SNP Somatic -8 0.061 SQHIGH 9 12 21 0 13 13 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 163786 1 100573118 100573118 23 ALL relapse snv NOS1AP missense E397Q NM_014697 10-PAPECF NOS1AP MISSENSE SNP Somatic 6 0.230 SQHIGH 14 50 64 0 84 84 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9722 1 162336925 162336925 55 ALL relapse snv SELL missense K312N NM_000655 10-PAPECF SELL MISSENSE,UTR SNP Somatic 4 0.182 SQHIGH 15 35 50 0 69 69 C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 6402 1 169672451 169672451 63 ALL relapse snv FAM163A missense E45K NM_173509 10-PAPECF FAM163A MISSENSE SNP Somatic 13 0.526 SQHIGH 46 49 95 0 130 130 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 148753 1 179782953 179782953 208 ALL relapse snv SHCBP1L missense R113C NM_030933 10-PAPECF SHCBP1L MISSENSE SNP Somatic 4 0.182 SQHIGH 10 33 43 0 61 61 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 81626 1 182921932 182921932 41 ALL relapse snv RGS2 missense P74S NM_002923 10-PAPECF RGS2 MISSENSE SNP Somatic 17 0.852 SQHIGH 18 17 35 0 37 37 C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 5997 1 192779507 192779507 70 ALL relapse snv KIF14 missense D1265H NM_014875 10-PAPECF KIF14 MISSENSE SNP Somatic 1 0.136 SQHIGH 8 19 27 0 26 26 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9928 1 200534666 200534666 26 ALL relapse snv NBAS missense E1872Q NM_015909 10-PAPECF NBAS MISSENSE SNP Somatic 13 0.526 SQHIGH 11 19 30 0 34 34 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 51594 2 15415718 15415718 41 ALL relapse snv STRN splice_region T265_E6splice_region NM_003162 10-PAPECF STRN INTRON SNP Somatic 16 0.757 SQHIGH 10 20 30 0 23 23 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 6801 2 37126657 37126657 28 ALL relapse snv AFTPH missense D377N NM_203437 10-PAPECF AFTPH MISSENSE SNP Somatic -3 0.093 SQHIGH 9 44 53 1 86 87 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 54812 2 64779737 64779737 32 ALL relapse snv ANTXR1 silent A359A NM_032208 10-PAPECF ANTXR1 SYNONYMOUS SNP dbsnp.119:rs10191967 Somatic -6 0.073 SQHIGH 8 64 72 0 81 81 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 84168 2 69397409 69397409 27 ALL relapse snv IFIH1 missense E293K NM_022168 10-PAPECF IFIH1 MISSENSE SNP Somatic 5 0.202 SQHIGH 21 39 60 1 71 72 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 64135 2 163144863 163144863 70 ALL relapse snv RAPGEF4 silent T733T NM_007023 10-PAPECF RAPGEF4 SYNONYMOUS SNP dbsnp.129:rs61756295 Somatic PFAM:PF00789:UBX 6 0.230 SQHIGH 17 33 50 0 46 46 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 11069 2 173885389 173885389 55 ALL relapse snv DYTN missense R227Q NM_001093730 10-PAPECF DYTN MISSENSE SNP Somatic 5 0.202 SQHIGH 13 38 51 0 48 48 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 391475 2 207564490 207564490 41 ALL relapse snv SCN5A missense E1804K NM_198056 10-PAPECF SCN5A MISSENSE SNP Somatic 4 0.182 SQHIGH 24 59 83 1 107 108 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 6331 3 38592453 38592453 84 ALL relapse snv IFRD2 missense H224Y NM_006764 10-PAPECF IFRD2 MISSENSE SNP Somatic PFAM:PF05004:IFRD 6 0.230 SQHIGH 17 37 54 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 7866 3 50327428 50327428 65 ALL relapse snv MORC1 silent L418L NM_014429 10-PAPECF MORC1 SYNONYMOUS SNP Somatic -9 0.057 SQHIGH 4 31 35 0 54 54 Cosmic_Gene G G T G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 27136 3 108773651 108773651 17 ALL relapse snv RNF7 missense L62V NM_014245 10-PAPECF RNF7 SYNONYMOUS,INTRON,MISSENSE,UTR SNP Somatic -2 0.102 SQHIGH 4 13 17 0 23 23 C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9616 3 141462359 141462359 16 ALL relapse snv PCOLCE2 missense R111Q NM_013363 10-PAPECF PCOLCE2 MISSENSE SNP Somatic 7 0.257 SQHIGH 12 27 39 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 26577 3 142567175 142567175 31 ALL relapse snv MYNN missense H461D NM_018657 10-PAPECF MYNN MISSENSE,UTR SNP Somatic 13 0.526 SQHIGH 10 8 18 0 23 23 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 55892 3 169500413 169500413 44 ALL relapse snv TNIK missense E412D NM_015028 10-PAPECF TNIK MISSENSE SNP Somatic 4 0.182 SQHIGH 27 46 73 0 70 70 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 23043 3 170858284 170858284 91 ALL relapse snv VWA5B2 missense V364M NM_138345 10-PAPECF VWA5B2 MISSENSE SNP Somatic PFAM:PF04811:Sec23_trunk -6 0.073 SQHIGH 5 5 10 0 12 12 G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 90113 3 183953085 183953085 20 ALL relapse snv CLCN2 missense A195T NM_004366 10-PAPECF CLCN2 MISSENSE SNP Somatic PFAM:PF00654:Voltage_CLC -7 0.067 SQHIGH 8 52 60 0 86 86 C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 1181 3 184075782 184075782 32 ALL relapse snv TACC3 splice E488Q NM_006342 10-PAPECF TACC3 MISSENSE SNP Somatic -6 0.073 SQHIGH 9 39 48 0 86 86 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 10460 4 1732899 1732899 42 ALL relapse snv LOC101928942 EXON E2_exon NM_006259 10-PAPECF PRKG2|LOC100506297 INTRON|UTR SNP Somatic 8 0.286 SQHIGH 19 34 53 1 53 54 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 5593|100506297 4 82114325 82114325 56 ALL relapse snv PCDH10 missense E625K NM_032961 10-PAPECF PCDH10 MISSENSE SNP Somatic 6 0.230 SQHIGH 15 43 58 0 89 89 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 57575 4 134073168 134073168 66 ALL relapse snv ADAM29 missense E380D NM_014269 10-PAPECF ADAM29 MISSENSE SNP Somatic 8 0.286 SQHIGH 19 66 85 0 114 114 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 11086 4 175897816 175897816 76 ALL relapse snv F11 missense Q134E NM_000128 10-PAPECF F11 MISSENSE SNP Somatic 10 0.363 SQHIGH 12 33 45 0 49 49 C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 2160 4 187195344 187195344 42 ALL relapse snv ICE1 missense H1475Y NM_015325 10-PAPECF ICE1 MISSENSE SNP Somatic -4 0.085 SQHIGH 7 30 37 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 23379 5 5463870 5463870 26 ALL relapse snv DNAH5 missense L3723V NM_001369 10-PAPECF DNAH5 MISSENSE SNP Somatic PFAM:PF12781:AAA_9 11 0.411 SQHIGH 10 19 29 0 25 25 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 1767 5 13751231 13751231 31 ALL relapse snv MIER3 missense D358N NM_152622 10-PAPECF C5orf35|MIER3 INTRON|MISSENSE SNP Somatic 10 0.363 SQHIGH 12 32 44 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 133383|166968 5 56219638 56219638 41 ALL relapse snv ANKRD31 missense L266F NM_001164443 10-PAPECF ANKRD31 MISSENSE SNP Somatic 6 0.230 SQHIGH 21 30 51 0 72 72 C C A C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 256006 5 74491675 74491675 93 ALL relapse snv PCDHGA4 missense R361T NM_018917 10-PAPECF PCDHGA3|PCDHGA4|PCDHGB1|PCDHGA2|PCDHGA1|PCDHGB2 INTRON|MISSENSE|INTRON|INTRON|INTRON|TSS-UPSTREAM SNP Somatic 11 0.411 SQHIGH 34 39 73 0 83 83 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 56112|56111|56104|56113|56114|56103 5 140735756 140735756 135 ALL relapse snv PCDH12 missense L118V NM_016580 10-PAPECF PCDH12 MISSENSE SNP Somatic 2 0.150 SQHIGH 31 64 95 1 154 155 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 51294 5 141337065 141337065 132 ALL relapse snv GRIA1 silent L56L NM_000827 10-PAPECF GRIA1 SYNONYMOUS SNP Somatic PFAM:PF01094:ANF_receptor 13 0.526 SQHIGH 20 27 47 0 60 60 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 2890 5 152873573 152873573 84 ALL relapse snv HLA-E splice E204_E4splice NM_005516 10-PAPECF HLA-E ACCEPTOR SNP Somatic 2 0.150 SQHIGH 31 55 86 0 119 119 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 3133 6 30458911 30458911 133 ALL relapse snv TNXB silent L3318L NM_019105 10-PAPECF TNXB SYNONYMOUS,TSS-UPSTREAM SNP Somatic PFAM:PF00041:fn3 3 0.165 SQHIGH 14 37 51 0 96 96 C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 7148 6 32016225 32016225 70 ALL relapse snv ETV7 missense K335N NM_016135 10-PAPECF ETV7 INTRON,MISSENSE SNP Somatic 6 0.230 SQHIGH 21 48 69 1 98 99 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 51513 6 36334443 36334443 78 ALL relapse snv CLIC5 silent X411X NM_001114086 10-PAPECF CLIC5 SYNONYMOUS SNP Somatic 7 0.257 SQHIGH 18 55 73 0 113 113 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 53405 6 45870826 45870826 79 ALL relapse snv GCM1 missense H128N NM_003643 10-PAPECF GCM1 MISSENSE SNP Somatic PFAM:PF03615:GCM 6 0.230 SQHIGH 15 43 58 0 85 85 Cosmic_Gene G G T G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 8521 6 52996864 52996864 64 ALL relapse snv RIMS1 missense G1654E NM_014989 10-PAPECF RIMS1 MISSENSE SNP Somatic 6 0.230 SQHIGH 19 38 57 0 72 72 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 22999 6 73110298 73110298 76 ALL relapse snv TBX18 silent D279D NM_001080508 10-PAPECF TBX18 SYNONYMOUS SNP Somatic 11 0.411 SQHIGH 9 14 23 0 27 27 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9096 6 85457740 85457740 35 ALL relapse snv SCML4 splice A325_E6splice NM_198081 10-PAPECF SCML4 DISRUPT SNP Somatic 6 0.230 SQHIGH 25 55 80 0 123 123 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 256380 6 108041906 108041906 113 ALL relapse snv AK9 silent L1263L NM_001145128 10-PAPECF AK9 SYNONYMOUS SNP Somatic 3 0.165 SQHIGH 7 13 20 0 19 19 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 221264 6 109837690 109837690 23 ALL relapse snv ZNF679 missense E143K NM_153363 10-PAPECF ZNF679 MISSENSE SNP Somatic 13 0.526 SQHIGH 9 24 33 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 168417 7 63726438 63726438 32 ALL relapse snv BAZ1B missense E584Q NM_032408 10-PAPECF BAZ1B MISSENSE SNP Somatic 4 0.182 SQHIGH 14 53 67 0 96 96 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9031 7 72892041 72892041 58 ALL relapse snv CASD1 missense S268Y NM_022900 10-PAPECF CASD1 MISSENSE SNP Somatic 17 0.852 SQHIGH 13 21 34 0 33 33 Cosmic_Gene C C A C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 64921 7 94164795 94164795 44 ALL relapse snv MUC17 missense M1I NM_001040105 10-PAPECF MUC17 MISSTART SNP Somatic 10 0.363 SQHIGH 24 40 64 0 94 94 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 140453 7 100663419 100663419 108 ALL relapse snv RPL19P12 EXON E1_exon NM_001122838 10-PAPECF RPL19P12|NAPEPLD UTR|INTRON SNP Somatic 13 0.526 SQHIGH 31 38 69 0 93 93 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 100129424|222236 7 102781751 102781751 136 ALL relapse snv SH2D4A splice E61_E3splice NM_022071 10-PAPECF SH2D4A DISRUPT SNP Somatic 4 0.182 SQHIGH 7 20 27 1 38 39 G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 63898 8 19190465 19190465 22 ALL relapse snv NKX2-6 missense A85V NM_001136271 10-PAPECF NKX2-6 MISSENSE SNP Somatic 16 0.757 SQHIGH 15 24 39 1 55 56 G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 137814 8 23563858 23563858 56 ALL relapse snv VLDLR missense W659C NM_003383 10-PAPECF VLDLR MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b 10 0.363 SQHIGH 22 36 58 0 87 87 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 7436 9 2648683 2648683 100 ALL relapse snv MPDZ missense A346D NM_003829 10-PAPECF MPDZ MISSENSE SNP Somatic 10 0.363 SQHIGH 9 18 27 0 20 20 Cosmic_Gene G G T G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 8777 9 13219607 13219607 25 ALL relapse snv RUSC2 missense E1378Q NM_001135999 10-PAPECF RUSC2 MISSENSE SNP Somatic 6 0.230 SQHIGH 24 34 58 1 71 72 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9853 9 35560769 35560769 86 ALL relapse snv APBA1 missense I459M NM_001163 10-PAPECF APBA1 MISSENSE SNP Somatic 0 0.124 SQHIGH 11 46 57 0 77 77 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 320 9 72082844 72082844 43 ALL relapse snv LCN6 missense E29K NM_198946 10-PAPECF LCN6|LOC100128593 MISSENSE|UTR SNP Somatic 10 0.363 SQHIGH 23 32 55 0 83 83 C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 158062|100128593 9 139642851 139642851 107 ALL relapse snv ITGA8 splice_region Y297_E9splice_region NM_003638 10-PAPECF ITGA8 INTRON SNP Somatic 12 0.465 SQHIGH 29 34 63 0 56 56 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 8516 10 15702868 15702868 97 ALL relapse snv SMTNL1 missense Q150H NM_001105565 10-PAPECF SMTNL1 MISSENSE SNP Somatic 6 0.230 SQHIGH 39 69 108 0 156 156 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 219537 11 57310565 57310565 173 ALL relapse snv SLC22A8 missense E71K NM_004254 10-PAPECF SLC22A8 INTRON,MISSENSE SNP Somatic 7 0.257 SQHIGH 19 48 67 0 115 115 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9376 11 62782220 62782220 91 ALL relapse snv CEP295 missense K1013Q NM_033395 10-PAPECF CEP295 MISSENSE SNP Somatic -9 0.057 SQHIGH 5 33 38 0 37 37 A A C A A TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 85459 11 93431115 93431115 15 ALL relapse snv PKNOX2 silent P9P NM_022062 10-PAPECF PKNOX2 SYNONYMOUS SNP Somatic 5 0.202 SQHIGH 15 48 63 0 66 66 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 63876 11 125221228 125221228 51 ALL relapse snv CDON missense S1023L NM_016952 10-PAPECF CDON MISSENSE SNP Somatic 8 0.286 SQHIGH 16 29 45 0 73 74 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 50937 11 125851152 125851152 76 ALL relapse snv CDON missense R616Q NM_016952 10-PAPECF CDON MISSENSE SNP dbsnp.134:rs144938780 Somatic 7 0.257 SQHIGH 16 55 71 0 108 108 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 50937 11 125875658 125875658 69 ALL relapse snv ETV6 nonsense Q347* NM_001987 10-PAPECF ETV6 NONSENSE SNP Somatic PFAM:PF00178:Ets 13 0.526 SQHIGH 30 15 45 0 84 84 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 2120 12 12037408 12037408 178 ALL relapse snv ATF7IP nonsense Q1119* NM_018179 10-PAPECF ATF7IP NONSENSE SNP Somatic 9 0.322 SQHIGH 7 4 11 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 55729 12 14649239 14649239 48 ALL relapse snv C2CD5 nonsense K890* NM_014802 10-PAPECF C2CD5 NONSENSE SNP Somatic -3 0.093 SQHIGH 3 5 8 0 26 26 Cosmic_Gene T T A T T TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9847 12 22609961 22609961 20 ALL relapse snv ZNF641 missense R234K NM_152320 10-PAPECF ZNF641 MISSENSE SNP Somatic 3 0.165 SQHIGH 8 22 30 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 121274 12 48737372 48737372 32 ALL relapse snv SLC4A8 nonsense S918* NM_001039960 10-PAPECF SLC4A8 NONSENSE SNP Somatic PFAM:PF00955:HCO3_cotransp 6 0.230 SQHIGH 18 35 53 1 54 55 Cosmic_Gene C C A C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9498 12 51887540 51887540 53 ALL relapse snv RIC8B silent L134L NM_018157 10-PAPECF RIC8B SYNONYMOUS SNP Somatic PFAM:PF10165:Ric8 2 0.150 SQHIGH 6 16 22 0 45 45 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 55188 12 107208743 107208743 31 ALL relapse snv KDM2B missense D862H NM_032590 10-PAPECF KDM2B MISSENSE SNP Somatic PFAM:PF10243:MIP-T3 3 0.165 SQHIGH 34 56 90 0 171 171 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 84678 12 121880815 121880815 179 ALL relapse snv UCHL3 splice V15_E2splice NM_006002 10-PAPECF UCHL3 ACCEPTOR SNP Somatic 6 0.230 SQHIGH 23 68 91 1 114 115 C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 7347 13 76124109 76124109 77 ALL relapse snv OR5AU1 silent P27P NM_001004731 10-PAPECF OR5AU1 SYNONYMOUS SNP Somatic 9 0.322 SQHIGH 19 31 50 0 88 88 Cosmic_Gene G G T G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 390445 14 21624104 21624104 95 ALL relapse snv SYT16 missense S47C NM_031914 10-PAPECF SYT16 MISSENSE SNP Somatic 8 0.286 SQHIGH 22 48 70 0 86 86 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 83851 14 62462877 62462877 86 ALL relapse snv SYNE2 missense S2389C NM_015180 10-PAPECF SYNE2 MISSENSE SNP Somatic 12 0.465 SQHIGH 10 21 31 0 46 46 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 23224 14 64498020 64498020 44 ALL relapse snv CDC42BPB missense V210M NM_006035 10-PAPECF CDC42BPB MISSENSE SNP Somatic 3 0.165 SQHIGH 17 43 60 1 64 65 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 9578 14 103452886 103452886 50 ALL relapse snv CPEB1 missense R350P NM_030594 10-PAPECF CPEB1 MISSENSE SNP Somatic PFAM:PF04059:RRM_2 5 0.202 SQHIGH 18 66 84 0 135 135 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 64506 15 83222231 83222231 80 ALL relapse snv RAB26 splice N103_E3splice NM_014353 10-PAPECF TRAF7|RAB26 TSS-UPSTREAM|DISRUPT SNP Somatic 6 0.230 SQHIGH 21 55 76 3 79 82 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 84231|25837 16 2201569 2201569 47 ALL relapse snv ADCY9 silent V705V NM_001116 10-PAPECF ADCY9 SYNONYMOUS SNP Somatic 7 0.257 SQHIGH 19 43 62 0 74 74 Cosmic_Gene C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 115 16 4042239 4042239 72 ALL relapse snv ADCY9 missense G700V NM_001116 10-PAPECF ADCY9 MISSENSE SNP Somatic 6 0.230 SQHIGH 19 53 72 0 75 75 Cosmic_Gene C C A C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 115 16 4042255 4042255 65 ALL relapse snv LYRM1 missense E120K NM_020424 10-PAPECF LYRM1 MISSENSE SNP Somatic 18 0.898 SQHIGH 14 24 38 0 38 38 G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 57149 16 20935427 20935427 49 ALL relapse snv MVD missense G333A NM_002461 10-PAPECF MVD|CYBA MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00288:GHMP_kinases_N 5 0.202 SQHIGH 19 39 58 0 67 67 C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 4597|1535 16 88721115 88721115 72 ALL relapse snv KIF19 silent N285N NM_153209 10-PAPECF KIF19 SYNONYMOUS SNP dbsnp.134:rs150952955 Somatic 6 0.230 SQHIGH 25 36 61 0 67 67 C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 124602 17 72342594 72342594 95 ALL relapse snv TXNDC2 missense T44P NM_032243 10-PAPECF TXNDC2 MISSENSE SNP Somatic PFAM:PF03157:Glutenin_hmw 14 0.608 SQHIGH 20 27 47 0 62 62 Cosmic_Gene A A C A A TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 84203 18 9886807 9886807 86 ALL relapse snv MYO1F missense E173Q NM_012335 10-PAPECF MYO1F MISSENSE SNP Somatic 6 0.230 SQHIGH 14 46 60 0 105 105 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 4542 19 8617036 8617036 66 ALL relapse snv HAPLN4 silent R215R NM_023002 10-PAPECF HAPLN4 SYNONYMOUS SNP Somatic PFAM:PF00193:Xlink 10 0.363 SQHIGH 10 28 38 1 75 76 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 404037 19 19369504 19369504 42 ALL relapse snv SYNE4 missense P260H NM_001039876 10-PAPECF SYNE4 MISSENSE SNP Somatic 7 0.257 SQHIGH 22 51 73 0 103 103 Cosmic_Gene G G T G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 163183 19 36497413 36497413 93 ALL relapse snv MYADM missense V49M NM_001020818 10-PAPECF MYADM MISSENSE SNP Somatic PFAM:PF01284:MARVEL 6 0.230 SQHIGH 12 28 40 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 91663 19 54376928 54376928 44 ALL relapse snv SNORD119 EXON E5_exon NM_198216 10-PAPECF SNRPB|SNORD119 INTRON|UTR SNP Somatic 3 0.165 SQHIGH 28 53 81 3 92 95 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 6628|100113378 20 2443659 2443659 77 ALL relapse snv FAM207A splice G95_E3splice NM_058190 10-PAPECF FAM207A ACCEPTOR SNP Somatic 2 0.150 SQHIGH 34 105 139 0 130 130 C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 85395 21 46380012 46380012 107 ALL relapse snv GGT5 missense E207Q NM_001099781 10-PAPECF GGT5 MISSENSE SNP Somatic PFAM:PF01019:G_glu_transpept 2 0.150 SQHIGH 10 31 41 0 78 78 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 2687 22 24628154 24628154 50 ALL relapse snv NEFH missense E97Q NM_021076 10-PAPECF NEFH MISSENSE SNP Somatic PFAM:PF00038:Filament 5 0.202 SQHIGH 7 16 23 0 28 28 G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 4744 22 29876540 29876540 27 ALL relapse snv FAM227A silent T388T NM_001013647 10-PAPECF FAM227A SYNONYMOUS SNP Somatic 4 0.182 SQHIGH 8 27 35 1 39 40 C C T C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 646851 22 39001316 39001316 21 ALL relapse snv SCUBE1 splice_region L204_E5splice_region NM_173050 10-PAPECF SCUBE1 INTRON SNP Somatic 7 0.257 SQHIGH 34 48 82 0 109 109 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 80274 22 43658718 43658718 146 ALL relapse snv UPK3A splice_region L191_E4splice_region NM_006953 10-PAPECF UPK3A INTRON SNP Somatic 5 0.202 SQHIGH 12 34 46 1 69 70 G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 7380 22 45685034 45685034 43 ALL relapse snv BEND2 splice_region E394_E8splice_region NM_153346 10-PAPECF BEND2 ACCEPTOR SNP Somatic 11 0.411 SQHIGH 12 24 36 0 41 41 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 139105 X 18209236 18209236 45 ALL relapse snv SH3KBP1 silent H519H NM_031892 10-PAPECF SH3KBP1 SYNONYMOUS SNP Somatic 7 0.257 SQHIGH 23 43 66 1 90 91 G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 30011 X 19564106 19564106 86 ALL relapse snv PHKA1 missense Q1004H NM_002637 10-PAPECF PHKA1 MISSENSE SNP Somatic 3 0.165 SQHIGH 7 28 35 0 35 35 Cosmic_Gene C C A C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 5255 X 71822029 71822029 23 ALL relapse snv PHKA1 missense M492I NM_002637 10-PAPECF PHKA1 MISSENSE SNP Somatic -1 0.113 SQHIGH 6 19 25 0 31 31 Cosmic_Gene C C G C C TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 5255 X 71856220 71856220 23 ALL relapse snv ATRX nonsense Q503* NM_000489 10-PAPECF ATRX NONSENSE SNP Somatic PFAM:PF04615:Utp14 3 0.165 SQHIGH 9 30 39 0 55 55 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 546 X 76939241 76939241 37 ALL relapse snv DRP2 splice_region S352_E9splice_region NM_001939 10-PAPECF DRP2 DONOR SNP Somatic 6 0.230 SQHIGH 23 58 81 0 73 73 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 1821 X 100497976 100497976 72 ALL relapse snv COL4A5 splice_region K229_E12splice_region NM_000495 10-PAPECF COL4A5 INTRON SNP Somatic 4 0.182 SQHIGH 10 11 21 0 26 26 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 1287 X 107821359 107821359 42 ALL relapse snv KIAA1210 silent L334L NM_020721 10-PAPECF KIAA1210 SYNONYMOUS SNP Somatic 1 0.136 SQHIGH 14 24 38 0 41 41 Cosmic_Gene G G C G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 57481 X 118239021 118239021 51 ALL relapse snv PLXNB3 missense E698K NM_005393 10-PAPECF PLXNB3 MISSENSE SNP Somatic 6 0.230 SQHIGH 17 43 60 0 107 107 Cosmic_Gene G G A G G TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 5365 X 153036294 153036294 83 ALL diagnosis snv STK40 missense M355I NM_032017 10-PAPECF STK40 MISSENSE SNP Somatic 1 0.132 SQHIGH 37 121 158 0 170 170 Cosmic_Gene C C T C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 83931 1 36808989 36808989 128 ALL diagnosis snv OSBPL9 silent P21P NM_148904 10-PAPECF OSBPL9 SYNONYMOUS,UTR SNP Somatic 12 0.452 SQHIGH 12 21 33 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 114883 1 52226376 52226376 45 ALL diagnosis snv STRN splice_region T265_E6splice_region NM_003162 10-PAPECF STRN INTRON SNP Somatic 5 0.196 SQHIGH 5 16 21 0 23 23 Cosmic_Gene C C G C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 6801 2 37126657 37126657 17 ALL diagnosis snv RAPGEF4 silent T733T NM_007023 10-PAPECF RAPGEF4 SYNONYMOUS SNP dbsnp.129:rs61756295 Somatic PFAM:PF00789:UBX 5 0.196 SQHIGH 8 26 34 0 46 46 Cosmic_Gene G G A G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 11069 2 173885389 173885389 32 ALL diagnosis snv FBLN2 missense K684N NM_001004019 10-PAPECF FBLN2 MISSENSE SNP Somatic -9 0.055 SQHIGH 7 65 72 2 110 112 Cosmic_Gene A A T A A TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 2199 3 13660516 13660516 17 ALL diagnosis snv SNTN missense P21R NM_001080537 10-PAPECF SNTN MISSENSE SNP Somatic 4 0.176 SQHIGH 12 40 52 0 67 67 Cosmic_Gene C C G C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 132203 3 63638425 63638425 47 ALL diagnosis snv TACC3 splice E488Q NM_006342 10-PAPECF TACC3 MISSENSE SNP Somatic -10 0.051 SQHIGH 7 57 64 0 86 86 Cosmic_Gene G G C G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 10460 4 1732899 1732899 27 ALL diagnosis snv PCDH12 missense L118V NM_016580 10-PAPECF PCDH12 MISSENSE SNP Somatic 4 0.176 SQHIGH 16 83 99 1 154 155 Cosmic_Gene G G C G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 51294 5 141337065 141337065 58 ALL diagnosis snv KCNQ5 missense S724P NM_019842 10-PAPECF KCNQ5 MISSENSE SNP Somatic -3 0.089 SQHIGH 5 37 42 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 56479 6 73904508 73904508 14 ALL diagnosis snv AK9 silent L1263L NM_001145128 10-PAPECF AK9 SYNONYMOUS SNP Somatic -8 0.059 SQHIGH 4 7 11 0 19 19 Cosmic_Gene C C G C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 221264 6 109837690 109837690 19 ALL diagnosis snv MUC17 missense M1I NM_001040105 10-PAPECF MUC17 MISSTART SNP Somatic -1 0.109 SQHIGH 12 63 75 0 94 94 Cosmic_Gene G G A G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 140453 7 100663419 100663419 45 ALL diagnosis snv RPL19P12 EXON E1_exon NM_001122838 10-PAPECF RPL19P12|NAPEPLD UTR|INTRON SNP Somatic 8 0.276 SQHIGH 20 50 70 0 93 93 Cosmic_Gene C C G C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 100129424|222236 7 102781751 102781751 81 ALL diagnosis snv LOC93432 missense G808S NM_001293626 10-PAPECF SNP Somatic -7 0.065 SQHIGH 7 33 40 0 54 54 G G A G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 7 141861001 141861001 27 ALL diagnosis snv RUSC2 missense E1378Q NM_001135999 10-PAPECF RUSC2 MISSENSE SNP Somatic -9 0.055 SQHIGH 9 68 77 1 71 72 Cosmic_Gene G G C G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 9853 9 35560769 35560769 19 ALL diagnosis snv GSN silent L189L NM_000177 10-PAPECF GSN SYNONYMOUS SNP Somatic PFAM:PF00626:Gelsolin 6 0.222 SQHIGH 17 65 82 0 113 113 Cosmic_Gene C C T C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 2934 9 124073024 124073024 69 ALL diagnosis snv MAN1B1 silent L340L NM_016219 10-PAPECF MAN1B1 SYNONYMOUS SNP Somatic PFAM:PF01532:Glyco_hydro_47 -7 0.065 SQHIGH 10 49 59 0 68 68 Cosmic_Gene G G A G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 11253 9 139995560 139995560 35 ALL diagnosis snv SMTNL1 missense Q150H NM_001105565 10-PAPECF SMTNL1 MISSENSE SNP Somatic -2 0.098 SQHIGH 18 97 115 0 156 156 Cosmic_Gene G G C G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 219537 11 57310565 57310565 71 ALL diagnosis snv ETV6 nonsense Q347* NM_001987 10-PAPECF ETV6 NONSENSE SNP Somatic PFAM:PF00178:Ets 9 0.311 SQHIGH 11 32 43 0 84 84 Cosmic_Gene C C T C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 2120 12 12037408 12037408 56 ALL diagnosis snv ATF7IP nonsense Q1119* NM_018179 10-PAPECF ATF7IP NONSENSE SNP Somatic -8 0.059 SQHIGH 4 19 23 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 55729 12 14649239 14649239 15 ALL diagnosis snv TMTC2 missense E374K NM_152588 10-PAPECF TMTC2 MISSENSE SNP Somatic -5 0.075 SQHIGH 8 37 45 0 60 60 Cosmic_Gene G G A G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 160335 12 83290062 83290062 31 ALL diagnosis snv AXIN1 silent L335L NM_003502 10-PAPECF AXIN1 SYNONYMOUS SNP Somatic -1 0.109 SQHIGH 8 39 47 2 47 49 Cosmic_Gene G G T G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 8312 16 364557 364557 14 ALL diagnosis snv DLGAP1-AS5 EXON E1_exon NM_004746 10-PAPECF DLGAP1|LOC284215 INTRON|UTR SNP Somatic -8 0.059 SQHIGH 9 22 31 0 33 33 Cosmic_Gene G G T G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 9229|284215 18 4295711 4295711 31 ALL diagnosis snv TXNDC2 missense T44P NM_032243 10-PAPECF TXNDC2 MISSENSE SNP Somatic PFAM:PF03157:Glutenin_hmw 6 0.222 SQHIGH 15 36 51 0 62 62 Cosmic_Gene A A C A A TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 84203 18 9886807 9886807 58 ALL diagnosis snv ZNF383 nonsense Q377* NM_152604 10-PAPECF ZNF383 NONSENSE SNP Somatic 2 0.145 SQHIGH 11 42 53 2 64 66 Cosmic_Gene C C T C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 163087 19 37734267 37734267 26 ALL diagnosis snv SNORD119 EXON E5_exon NM_198216 10-PAPECF SNRPB|SNORD119 INTRON|UTR SNP Somatic -9 0.055 SQHIGH 12 91 103 0 106 106 Cosmic_Gene C C G C C TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 6628|100113378 20 2443659 2443659 38 ALL diagnosis snv SH3KBP1 silent H519H NM_031892 10-PAPECF SH3KBP1 SYNONYMOUS SNP Somatic 7 0.248 SQHIGH 22 47 69 1 90 91 G G A G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 30011 X 19564106 19564106 78 ALL diagnosis snv COL4A5 splice_region K229_E12splice_region NM_000495 10-PAPECF COL4A5 INTRON SNP Somatic -1 0.109 SQHIGH 5 16 21 0 26 26 Cosmic_Gene G G C G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 1287 X 107821359 107821359 19 ALL diagnosis mnv IPO5 silent I414_L415>IL NM_002271 10-PAPECF IPO5 SYNONYMOUS Sub Somatic PFAM:PF12755:Vac14_Fab1_bd -4 0.416 SQHIGH 3 14 17 0 35 35 Cosmic_Gene TC TC AT TC TC TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 3843 13 98654800 98654801 15 ALL diagnosis snv SCYL3 missense M619L NM_020423 10-PAPEJN SCYL3 MISSENSE SNP Somatic 7 0.221 SQHIGH 20 35 55 0 55 55 Cosmic_Gene T T G T T TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 57147 1 169823563 169823563 69 ALL diagnosis snv C1orf101 silent N462N NM_001130957 10-PAPEJN C1orf101 SYNONYMOUS SNP Somatic 13 0.474 SQHIGH 24 17 41 0 46 46 Cosmic_Gene C C T C C TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 257044 1 244724326 244724326 101 ALL diagnosis snv MERTK silent A382A NM_006343 10-PAPEJN MERTK SYNONYMOUS SNP Somatic 14 0.552 SQHIGH 30 31 61 0 54 54 Cosmic_Gene C C T C C TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 10461 2 112740420 112740420 102 ALL diagnosis snv TTN missense E4861Q NM_133379 10-PAPEJN TTN INTRON,MISSENSE SNP Somatic 7 0.221 SQHIGH 24 55 79 0 61 61 Cosmic_Gene C C G C C TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 7273 2 179612546 179612546 68 ALL diagnosis snv AASDH missense P632L NM_181806 10-PAPEJN AASDH MISSENSE SNP Somatic 5 0.169 SQHIGH 16 39 55 1 40 41 Cosmic_Gene G G A G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 132949 4 57216022 57216022 34 ALL diagnosis snv NR2F1 missense R158P NM_005654 10-PAPEJN NR2F1 MISSENSE SNP Somatic 3 0.138 SQHIGH 14 41 55 0 57 57 Cosmic_Gene G G C G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 7025 5 92923632 92923632 47 ALL diagnosis snv HARS missense S229G NM_002109 10-PAPEJN HARS|DND1 MISSENSE|TSS-UPSTREAM SNP Somatic 17 0.864 SQHIGH 33 33 66 3 61 64 Cosmic_Gene T T C T T TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 3035|373863 5 140057284 140057284 87 ALL diagnosis snv URGCP missense T579M NM_017920 10-PAPEJN URGCP-MRPS24|URGCP INTRON|MISSENSE SNP Somatic 2 0.125 SQHIGH 11 32 43 0 29 29 Cosmic_Gene G G A G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 100534592|55665 7 43917299 43917299 27 ALL diagnosis snv MET missense V250I NM_001127500 10-PAPEJN MET MISSENSE SNP Somatic PFAM:PF01403:Sema 15 0.659 SQHIGH 30 27 57 0 69 69 Cosmic_Gene G G A G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 4233 7 116339886 116339886 128 ALL diagnosis snv SLC13A1 missense L375I NM_022444 10-PAPEJN SLC13A1 MISSENSE SNP Somatic PFAM:PF00939:Na_sulph_symp 11 0.361 SQHIGH 15 30 45 0 43 43 Cosmic_Gene G G T G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 6561 7 122768909 122768909 50 ALL diagnosis snv FAT3 silent L2362L NM_001008781 10-PAPEJN FAT3 SYNONYMOUS SNP Somatic 6 0.196 SQHIGH 17 41 58 0 63 63 Cosmic_Gene G G A G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 120114 11 92533265 92533265 60 ALL diagnosis snv CIT missense L1101F NM_007174 10-PAPEJN CIT MISSENSE SNP Somatic -9 0.046 SQHIGH 7 28 35 0 39 39 Cosmic_Gene G G A G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 11113 12 120168359 120168359 24 ALL diagnosis snv PLEKHG3 missense E794Q NM_015549 10-PAPEJN PLEKHG3 MISSENSE SNP Somatic 6 0.196 SQHIGH 18 49 67 0 60 60 Cosmic_Gene G G C G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 26030 14 65208783 65208783 55 ALL diagnosis snv SPG21 silent L46L NM_016630 10-PAPEJN SPG21 SYNONYMOUS SNP Somatic PFAM:PF12697:Abhydrolase_6 0 0.103 SQHIGH 7 30 37 0 29 29 G G A G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 51324 15 65273289 65273289 19 ALL diagnosis snv BPTF missense V1432L NM_182641 10-PAPEJN BPTF MISSENSE SNP Somatic 11 0.361 SQHIGH 14 22 36 0 30 30 Cosmic_Gene G G C G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 2186 17 65908294 65908294 43 ALL diagnosis snv EPS8L1 missense V64F NM_133180 10-PAPEJN EPS8L1 TSS-UPSTREAM,MISSENSE SNP Somatic -2 0.084 SQHIGH 5 34 39 0 31 31 G G T G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 54869 19 55591130 55591130 13 ALL diagnosis snv U2AF1 missense S34F NM_006758 10-PAPEJN U2AF1 UTR5,MISSENSE SNP Somatic PFAM:PF00642:zf-CCCH 6 0.196 SQHIGH 23 29 52 0 27 27 G G A G G TARGET-10-PAPEJN-09A-01D TARGET-10-PAPEJN-10A-01D 7307 21 44524456 44524456 51 ALL diagnosis snv CPS1-IT1 EXON E22_exon NM_001122633 10-PAPESW CPS1|CPS1-IT1 INTRON|UTR SNP Somatic 11 0.420 SQHIGH 14 14 28 0 23 23 Cosmic_Gene C C A C C TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 1373|29034 2 211482665 211482665 45 ALL diagnosis snv DSPP missense N722D NM_014208 10-PAPESW DSPP MISSENSE SNP Somatic -8 0.069 SQHIGH 4 7 11 0 17 17 Cosmic_Gene A A G A A TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 1834 4 88535978 88535978 18 ALL diagnosis snv UHRF1BP1 splice_region K1327_E18splice_region NM_017754 10-PAPESW UHRF1BP1 DONOR SNP Somatic -9 0.064 SQHIGH 7 51 58 0 34 34 Cosmic_Gene A A G A A TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 54887 6 34838899 34838899 15 ALL diagnosis snv NXPH1 missense T95K NM_152745 10-PAPESW NXPH1 MISSENSE SNP Somatic PFAM:PF06312:Neurexophilin 1 0.150 SQHIGH 9 24 33 0 36 36 Cosmic_Gene C C A C C TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 30010 7 8790867 8790867 32 ALL diagnosis snv ABHD11 missense Q269K NM_148912 10-PAPESW ABHD11 MISSENSE,UTR SNP Somatic -9 0.064 SQHIGH 4 36 40 0 46 46 G G T G G TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 83451 7 73151269 73151269 14 ALL diagnosis snv CLDN4 missense G37S NM_001305 10-PAPESW CLDN4 MISSENSE SNP Somatic PFAM:PF00822:PMP22_Claudin -2 0.111 SQHIGH 6 19 25 0 25 25 G G A G G TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 1364 7 73245640 73245640 20 ALL diagnosis snv KCP splice_region A277_E9splice_region NM_001135914 10-PAPESW KCP DONOR SNP Somatic -5 0.087 SQHIGH 7 31 38 0 47 47 Cosmic_Gene T T C T T TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 375616 7 128534025 128534025 26 ALL diagnosis snv ADAM9 missense S38P NM_003816 10-PAPESW ADAM9 MISSENSE,UTR SNP Somatic -6 0.080 SQHIGH 4 28 32 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 8754 8 38865419 38865419 14 ALL diagnosis snv PDLIM1 silent S130S NM_020992 10-PAPESW PDLIM1 SYNONYMOUS SNP Somatic -37 0.002 5 18 23 1 36 37 C C G C C TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 9124 10 97023764 97023764 16 ALL diagnosis snv TECTA missense A1341T NM_005422 10-PAPESW TECTA MISSENSE SNP Somatic PFAM:PF08742:C8 -1 0.123 SQHIGH 12 19 31 0 18 18 Cosmic_Gene G G A G G TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 7007 11 121016741 121016741 28 ALL diagnosis snv KIAA1551 missense L1519P NM_018169 10-PAPESW KIAA1551 MISSENSE SNP Somatic -9 0.064 SQHIGH 6 28 34 0 32 32 Cosmic_Gene T T C T T TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 55196 12 32138445 32138445 18 ALL diagnosis snv LRP1 missense R3446G NM_002332 10-PAPESW LRP1 MISSENSE SNP Somatic -10 0.060 SQHIGH 7 31 38 2 51 53 Cosmic_Gene A A G A A TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 4035 12 57594927 57594927 16 ALL diagnosis snv TPM1 splice_region L39_E2splice_region NM_001018005 10-PAPESW TPM1 ACCEPTOR,INTRON,TSS-UPSTREAM SNP Somatic -8 0.069 SQHIGH 5 19 24 0 17 17 T T C T T TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 7168 15 63336220 63336220 12 ALL diagnosis snv ANO8 missense S410G NM_020959 10-PAPESW GTPBP3|ANO8 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF04547:Anoctamin -7 0.075 SQHIGH 6 28 34 1 38 39 Cosmic_Gene T T C T T TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 84705|57719 19 17440979 17440979 14 ALL diagnosis snv MICAL3 missense A342V NM_015241 10-PAPESW MICAL3 MISSENSE SNP Somatic 13 0.526 SQHIGH 9 5 14 0 31 31 G G A G G TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 57553 22 18379671 18379671 56 ALL diagnosis snv H2BFWT missense R86C NM_001002916 10-PAPESW H2BFWT MISSENSE SNP Somatic PFAM:PF00808:CBFD_NFYB_HMF -9 0.064 SQHIGH 8 49 57 0 28 28 Cosmic_Gene G G A G G TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 158983 X 103267977 103267977 15 ALL diagnosis snv NRK missense R1559H NM_198465 10-PAPESW NRK MISSENSE SNP Somatic 4 0.199 SQHIGH 7 23 30 0 23 23 Cosmic_Gene G G A G G TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 203447 X 105199519 105199519 19 ALL diagnosis snv CT45A10 missense I112T NM_001291527 10-PAPESW CT45A10 MISSENSE SNP Somatic -3 0.101 SQHIGH 12 53 65 0 51 51 A A G A A TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 441521 X 134947990 134947990 32 ALL diagnosis snv CT45A10 missense G111E NM_001291527 10-PAPESW CT45A10 MISSENSE SNP Somatic -3 0.101 SQHIGH 14 46 60 1 44 45 C C T C C TARGET-10-PAPESW-09B-01D TARGET-10-PAPESW-10A-01D 441521 X 134947993 134947993 28 ALL diagnosis snv RUNX3 missense T413M NM_001031680 10-PAPEWB RUNX3 MISSENSE SNP Somatic PFAM:PF08504:RunxI 17 0.811 SQHIGH 13 15 28 0 26 26 G G A G G TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 864 1 25228665 25228665 45 ALL diagnosis snv PLCL1 missense R367C NM_006226 10-PAPEWB PLCL1 MISSENSE SNP Somatic PFAM:PF09279:efhand_like 4 0.147 SQHIGH 24 37 61 1 39 40 Cosmic_Gene C C T C C TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 5334 2 198949340 198949340 51 ALL diagnosis snv ZKSCAN3 missense L151Q NM_024493 10-PAPEWB ZKSCAN3 MISSENSE SNP Somatic 17 0.811 SQHIGH 23 20 43 0 46 46 Cosmic_Gene T T A T T TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 80317 6 28329150 28329150 91 ALL diagnosis snv NFKBIL1 missense R48W NM_005007 10-PAPEWB ATP6V1G2-DDX39B|ATP6V1G2|NFKBIL1 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.205 SQHIGH 18 22 40 1 32 33 C C T C C TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 100532737|534|4795 6 31516024 31516024 46 ALL diagnosis snv ACHE missense V362M NM_015831 10-PAPEWB UFSP1|ACHE TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00135:COesterase 8 0.228 SQHIGH 24 30 54 0 46 46 Cosmic_Gene C C T C C TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 402682|43 7 100490424 100490424 78 ALL diagnosis snv ZNF16 missense H371R NM_006958 10-PAPEWB ZNF16 MISSENSE SNP Somatic 9 0.257 SQHIGH 22 28 50 0 57 57 Cosmic_Gene T T C T T TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 7564 8 146157061 146157061 86 ALL diagnosis snv JAK2 missense R683S NM_004972 10-PAPEWB JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr -2 0.082 SQHIGH 5 23 28 0 30 30 COSMIC:mut:29638 Cosmic_Gene A A C A A TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 3717 9 5078362 5078362 17 ALL diagnosis snv TLE4 missense G638S NM_007005 10-PAPEWB TLE4 MISSENSE SNP Somatic 20 1.000 SQHIGH 18 20 38 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 7091 9 82336729 82336729 65 ALL diagnosis snv C12orf4 missense N236K NM_020374 10-PAPEWB C12orf4 MISSENSE SNP Somatic PFAM:PF10154:DUF2362 -31 0.003 5 32 37 0 38 38 G G T G G TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 57102 12 4634440 4634440 16 ALL diagnosis snv MSRB3 missense A182T NM_198080 10-PAPEWB MSRB3 MISSENSE SNP Somatic 9 0.257 SQHIGH 21 24 45 0 25 25 Cosmic_Gene G G A G G TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 253827 12 65857067 65857067 50 ALL diagnosis snv SMCHD1 missense I941T NM_015295 10-PAPEWB SMCHD1 MISSENSE SNP Somatic 17 0.811 SQHIGH 21 19 40 0 36 36 T T C T T TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 23347 18 2728503 2728503 73 ALL diagnosis snv SLC14A2 missense T523N NM_007163 10-PAPEWB SLC14A2 MISSENSE SNP Somatic 14 0.510 SQHIGH 22 24 46 0 49 49 Cosmic_Gene C C A C C TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 8170 18 43246910 43246910 84 ALL diagnosis snv NFKBIB silent L64L NM_002503 10-PAPEWB NFKBIB SYNONYMOUS,INTRON SNP Somatic 14 0.510 SQHIGH 18 16 34 0 33 33 Cosmic_Gene G G A G G TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 4793 19 39395667 39395667 66 ALL diagnosis snv SOGA1 missense K1286E NM_080627 10-PAPEWB SOGA1 INTRON,MISSENSE SNP Somatic 16 0.685 SQHIGH 17 20 37 0 40 40 Cosmic_Gene T T C T T TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 140710 20 35422629 35422629 65 ALL diagnosis snv GRPR silent S224S NM_005314 10-PAPEWB GRPR SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 9 0.257 SQHIGH 23 31 54 0 49 49 Cosmic_Gene G G A G G TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 2925 X 16168686 16168686 77 ALL diagnosis snv RASSF5 missense R178W NM_182663 10-PAPFWH RASSF5 MISSENSE SNP Somatic -10 0.045 SQHIGH 21 14 35 1 24 25 Cosmic_Gene C C T C C TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 83593 1 206711575 206711575 54 ALL diagnosis snv USP34 missense E573D NM_014709 10-PAPFWH USP34 MISSENSE SNP Somatic -4 0.074 SQHIGH 5 35 40 0 49 49 Cosmic_Gene T T A T T TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 9736 2 61575571 61575571 18 ALL diagnosis snv SPATA5 silent G412G NM_145207 10-PAPFWH SPATA5 SYNONYMOUS SNP Somatic -7 0.058 SQHIGH 4 13 17 0 24 24 A A G A A TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 166378 4 123856957 123856957 16 ALL diagnosis snv JAK2 missense R683G NM_004972 10-PAPFWH JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 13 0.483 SQHIGH 8 15 23 0 26 26 COSMIC:mut:29300 Cosmic_Gene A A G A A TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 3717 9 5078360 5078360 30 ALL diagnosis snv JAK2 missense T875N NM_004972 10-PAPFWH JAK2 MISSENSE SNP Somatic 0 0.109 SQHIGH 6 16 22 1 22 23 Cosmic_Gene C C A C C TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 3717 9 5089726 5089726 14 ALL diagnosis snv GDF2 silent C237C NM_016204 10-PAPFWH GDF2 SYNONYMOUS SNP dbsnp.134:rs146775536 Somatic PFAM:PF00688:TGFb_propeptide 15 0.653 SQHIGH 29 24 53 0 71 71 Cosmic_Gene G G A G G TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 2658 10 48414157 48414157 133 ALL diagnosis snv TSG101 missense V22I NM_006292 10-PAPFWH TSG101 MISSENSE SNP Somatic PFAM:PF00179:UQ_con 9 0.290 SQHIGH 14 30 44 0 26 26 C C T C C TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 7251 11 18541129 18541129 32 ALL diagnosis snv ANO3 missense R514C NM_031418 10-PAPFWH ANO3 MISSENSE SNP Somatic PFAM:PF04547:Anoctamin -2 0.089 SQHIGH 7 19 26 0 42 42 Cosmic_Gene C C T C C TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 63982 11 26620414 26620414 32 ALL diagnosis snv ATP6V0A2 splice G174_E6splice NM_012463 10-PAPFWH ATP6V0A2 DISRUPT SNP Somatic 14 0.559 SQHIGH 27 31 58 0 51 51 Cosmic_Gene A A G A A TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 23545 12 124212328 124212328 90 ALL diagnosis snv FZD10 missense A285T NM_007197 10-PAPFWH FLJ31485|FZD10 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01534:Frizzled 7 0.230 SQHIGH 8 21 29 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 440119|11211 12 130648340 130648340 28 ALL diagnosis snv ADCK1 splice_region E286_E7splice_region NM_020421 10-PAPFWH ADCK1 DONOR SNP Somatic -5 0.068 SQHIGH 6 31 37 0 35 35 Cosmic_Gene G G C G G TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 57143 14 78374267 78374267 18 ALL diagnosis snv TP53BP1 missense D29V NM_001141980 10-PAPFWH TP53BP1 MISSENSE SNP Somatic 12 0.422 SQHIGH 17 28 45 0 34 34 Cosmic_Gene T T A T T TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 7158 15 43784588 43784588 49 ALL diagnosis snv RAD21L1 missense H312P NM_001136566 10-PAPFWH RAD21L1 MISSENSE SNP Somatic 0 0.109 SQHIGH 17 9 26 0 16 16 A A C A A TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 642636 20 1223341 1223341 49 ALL diagnosis snv AP5S1 missense F98V NM_018347 10-PAPFWH AP5S1 MISSENSE SNP Somatic -5 0.068 SQHIGH 4 21 25 0 45 45 Cosmic_Gene T T G T T TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 55317 20 3804633 3804633 19 ALL diagnosis snv BPIFB1 missense T260S NM_033197 10-PAPFWH BPIFB1 MISSENSE SNP Somatic 7 0.230 SQHIGH 15 46 61 0 86 86 C C G C C TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 92747 20 31889070 31889070 62 ALL diagnosis snv CBLN4 missense A10V NM_080617 10-PAPFWH CBLN4 MISSENSE SNP Somatic -10 0.045 SQHIGH 18 12 30 0 27 27 Cosmic_Gene G G A G G TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 140689 20 54579199 54579199 66 ALL diagnosis snv TSSK2 missense S158P NM_053006 10-PAPFWH DGCR14|TSSK2 UTR3|MISSENSE SNP Somatic 16 0.727 SQHIGH 32 28 60 1 52 53 Cosmic_Gene T T C T T TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 8220|23617 22 19119384 19119384 98 ALL diagnosis snv TBX22 missense S353I NM_001109878 10-PAPFWH TBX22 MISSENSE SNP Somatic 5 0.177 SQHIGH 17 36 53 1 48 49 Cosmic_Gene G G T G G TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 50945 X 79286105 79286105 44 ALL diagnosis snv PCDH19 missense E599K NM_001105243 10-PAPFWH PCDH19 MISSENSE SNP Somatic 10 0.327 SQHIGH 33 42 75 1 68 69 Cosmic_Gene C C T C C TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 57526 X 99661801 99661801 99 ALL diagnosis mnv MDFIC missense F143_S144>DC NM_001166346 10-PAPFWH MDFIC INTRON,MISSENSE Sub Somatic -8 0.274 SQHIGH 4 23 27 0 29 29 Cosmic_Gene TTCA TTCA GACT TTCA TTCA TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 29969 7 114563519 114563522 13 ALL diagnosis snv SPEG missense R934H NM_005876 10-PAPGFP SPEG MISSENSE SNP Somatic 4 0.149 SQHIGH 28 44 72 1 70 71 Cosmic_Gene G G A G G TARGET-10-PAPGFP-09A-01D TARGET-10-PAPGFP-10A-01D 10290 2 220329250 220329250 85 ALL diagnosis snv ITPR1 missense E2195K NM_001099952 10-PAPGFP ITPR1 MISSENSE SNP Somatic 14 0.541 SQHIGH 16 24 40 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPGFP-09A-01D TARGET-10-PAPGFP-10A-01D 3708 3 4829742 4829742 54 ALL diagnosis snv THEGL missense R382Q NM_001256475 10-PAPGFP SNP Somatic 15 0.640 SQHIGH 16 23 39 0 32 32 G G A G G TARGET-10-PAPGFP-09A-01D TARGET-10-PAPGFP-10A-01D 4 57467137 57467137 49 ALL diagnosis snv MAPKAP1 missense Q521P NM_001006617 10-PAPGFP MAPKAP1 MISSENSE SNP Somatic -9 0.046 SQHIGH 5 32 37 0 35 35 Cosmic_Gene T T G T T TARGET-10-PAPGFP-09A-01D TARGET-10-PAPGFP-10A-01D 79109 9 128201173 128201173 15 ALL diagnosis snv DSCAML1 missense R1211Q NM_020693 10-PAPGFP DSCAML1 MISSENSE SNP dbsnp.134:rs141024479 Somatic 17 0.848 SQHIGH 35 28 63 2 58 60 Cosmic_Gene C C T C C TARGET-10-PAPGFP-09A-01D TARGET-10-PAPGFP-10A-01D 57453 11 117329586 117329586 105 ALL diagnosis snv KIAA2022 missense R1311W NM_001008537 10-PAPGFP KIAA2022 MISSENSE SNP dbsnp.134:rs145673087 Somatic 6 0.191 SQHIGH 30 41 71 1 78 79 Cosmic_Gene G G A G G TARGET-10-PAPGFP-09A-01D TARGET-10-PAPGFP-10A-01D 340533 X 73960461 73960461 102 ALL diagnosis snv PCDH11X silent T29T NM_001168360 10-PAPGFP PCDH11X SYNONYMOUS SNP Somatic PFAM:PF00028:Cadherin 7 0.216 SQHIGH 13 21 34 0 31 31 Cosmic_Gene C C A C C TARGET-10-PAPGFP-09A-01D TARGET-10-PAPGFP-10A-01D 27328 X 91090590 91090590 42 ALL diagnosis mnv STAT4 missense R240_R241>RK NM_003151 10-PAPGFP STAT4 MISSENSE Sub Somatic PFAM:PF01017:STAT_alpha -5 0.338 SQHIGH 5 32 37 0 30 30 Cosmic_Gene CGC CGC TTG CGC CGC TARGET-10-PAPGFP-09A-01D TARGET-10-PAPGFP-10A-01D 6775 2 191929593 191929595 13 ALL diagnosis snv PUM2 missense A339P NM_015317 10-PAPGMV PUM2 MISSENSE SNP Somatic -10 0.042 SQHIGH 4 18 22 0 35 35 Cosmic_Gene C C G C C TARGET-10-PAPGMV-09A-01D TARGET-10-PAPGMV-14A-01D 23369 2 20494274 20494274 17 ALL diagnosis mnv CHD3 missense L909T NM_001005273 10-PAPGMV CHD3 MISSENSE Sub Somatic -6 0.358 SQHIGH 6 26 32 0 34 34 Cosmic_Gene CTG CTG ACA CTG CTG TARGET-10-PAPGMV-09A-01D TARGET-10-PAPGMV-14A-01D 1107 17 7803650 7803652 20 ALL diagnosis snv LTBP1 missense V1023I NM_206943 10-PAPGNC LTBP1 MISSENSE SNP dbsnp.134:rs150228403 Somatic PFAM:PF07645:EGF_CA 14 0.507 SQHIGH 16 22 38 0 24 24 Cosmic_Gene G G A G G TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 4052 2 33505180 33505180 41 ALL diagnosis snv SKIL missense V509L NM_005414 10-PAPGNC SKIL MISSENSE SNP Somatic 15 0.589 SQHIGH 17 23 40 0 33 33 Cosmic_Gene G G C G G TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 6498 3 170108106 170108106 53 ALL diagnosis snv RUFY2 missense T254S NM_017987 10-PAPGNC RUFY2 MISSENSE SNP Somatic -2 0.081 SQHIGH 4 9 13 0 16 16 Cosmic_Gene T T A T T TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 55680 10 70145881 70145881 15 ALL diagnosis snv SAAL1 missense I284T NM_138421 10-PAPGNC SAAL1 MISSENSE SNP Somatic 10 0.288 SQHIGH 22 29 51 0 36 36 A A G A A TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 113174 11 18108692 18108692 62 ALL diagnosis snv OR4S1 silent H241H NM_001004725 10-PAPGNC OR4S1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 4 0.145 SQHIGH 14 17 31 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 256148 11 48328497 48328497 48 ALL diagnosis snv TMTC1 missense T419S NM_175861 10-PAPGNC TMTC1 MISSENSE SNP Somatic -5 0.061 SQHIGH 4 21 25 0 27 27 T T A T T TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 83857 12 29709887 29709887 13 ALL diagnosis snv SALL1 silent N1257N NM_002968 10-PAPGNC SALL1 SYNONYMOUS SNP dbsnp.134:rs145423593 Somatic 3 0.132 SQHIGH 28 21 49 1 44 45 Cosmic_Gene G G A G G TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 6299 16 51171227 51171227 89 ALL diagnosis snv ANKRD13B silent E315E NM_152345 10-PAPGNC ANKRD13B SYNONYMOUS SNP Somatic PFAM:PF11904:DUF3424 14 0.507 SQHIGH 21 21 42 0 38 38 G G A G G TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 124930 17 27938637 27938637 73 ALL diagnosis snv KIF2B missense A33V NM_032559 10-PAPGNC KIF2B MISSENSE SNP Somatic 16 0.672 SQHIGH 16 16 32 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 84643 17 51900492 51900492 57 ALL diagnosis snv PVALB splice E1_splice NM_002854 10-PAPGNC PVALB DISRUPT SNP Somatic 16 0.672 SQHIGH 18 16 34 0 32 32 Cosmic_Gene C C G C C TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 5816 22 37215474 37215474 65 ALL diagnosis mnv NME7 missense P178K NM_013330 10-PAPGNC NME7 MISSENSE Sub Somatic -4 0.379 SQHIGH 9 26 35 0 26 26 Cosmic_Gene AGG AGG TTT AGG AGG TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 29922 1 169267908 169267910 24 ALL diagnosis complex SKIL frameshift G505_L508fs NM_005414 10-PAPGNC SKIL FRAMESHIFT Sub Somatic 3 0.796 SQHIGH 17 29 46 0 39 39 Cosmic_Gene GAATTGGCC GAATTGGCC GT GAATTGGCC GAATTGGCC TARGET-10-PAPGNC-03A-01D TARGET-10-PAPGNC-10A-01D 6498 3 170108095 170108103 53 ALL relapse snv ZC3H12A missense L590F NM_025079 10-PAPGYC ZC3H12A MISSENSE SNP dbsnp.134:rs149691061 Somatic -8 0.067 SQHIGH 6 17 23 1 26 27 Cosmic_Gene C C T C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 80149 1 37949180 37949180 15 ALL relapse snv ZC3H12A silent S591S NM_025079 10-PAPGYC ZC3H12A SYNONYMOUS SNP Somatic -8 0.067 SQHIGH 6 14 20 1 25 26 Cosmic_Gene C C A C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 80149 1 37949185 37949185 17 ALL relapse snv FER1L5 missense R625G NM_001293083 10-PAPGYC FER1L5 MISSENSE SNP Somatic 0 0.130 SQHIGH 4 19 23 0 29 29 Cosmic_Gene A A G A A TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 90342 2 97351144 97351144 15 ALL relapse snv CERS6 nonsense R229* NM_203463 10-PAPGYC CERS6 NONSENSE SNP Somatic PFAM:PF03798:TRAM_LAG1_CLN8 9 0.311 SQHIGH 19 19 38 0 51 51 C C T C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 253782 2 169571586 169571586 85 ALL relapse snv COL4A4 missense R947Q NM_000092 10-PAPGYC COL4A4 MISSENSE SNP Somatic 8 0.281 SQHIGH 11 12 23 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 1286 2 227919330 227919330 48 ALL relapse snv PCDHB15 silent G42G NM_018935 10-PAPGYC PCDHB15 SYNONYMOUS SNP Somatic 3 0.170 SQHIGH 14 49 63 0 66 66 Cosmic_Gene T T C T T TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 56121 5 140625272 140625272 47 ALL relapse snv HOXA3 missense V269M NM_030661 10-PAPGYC HOXA3 MISSENSE SNP Somatic 8 0.281 SQHIGH 8 9 17 1 30 31 Cosmic_Gene C C T C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 3200 7 27148061 27148061 33 ALL relapse snv GLIS3 missense A233P NM_001042413 10-PAPGYC GLIS3 MISSENSE SNP Somatic -39 0.000 4 23 27 0 34 34 Cosmic_Gene C C G C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 169792 9 4118781 4118781 15 ALL relapse snv LOC100133077 EXON E3_exon NM_000718 10-PAPGYC CACNA1B|LOC100133077 INTRON|UTR SNP Somatic 1 0.142 SQHIGH 15 9 24 0 32 32 Cosmic_Gene C C T C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 774|100133077 9 140786616 140786616 71 ALL relapse snv OGDHL splice_region G621_E14splice_region NM_018245 10-PAPGYC OGDHL DONOR SNP Somatic 17 0.826 SQHIGH 18 15 33 0 32 32 Cosmic_Gene C C A C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 55753 10 50952035 50952035 67 ALL relapse snv NCR3LG1 nonsense E75* NM_001202439 10-PAPGYC NCR3LG1 NONSENSE SNP Somatic PFAM:PF00047:ig 13 0.491 SQHIGH 19 22 41 0 70 70 G G T G G TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 374383 11 17378350 17378350 97 ALL relapse snv KRAS missense G12A NM_033360 10-PAPGYC KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic -2 0.108 SQHIGH 4 15 19 0 31 31 COSMIC:mut:522 Cosmic_Gene C C G C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 3845 12 25398284 25398284 18 ALL relapse snv KIAA1551 silent A10A NM_018169 10-PAPGYC KIAA1551 SYNONYMOUS SNP Somatic 2 0.155 SQHIGH 7 31 38 0 53 53 Cosmic_Gene T T C T T TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 55196 12 32133919 32133919 28 ALL relapse snv KRT6A missense G510A NM_005554 10-PAPGYC KRT6A MISSENSE SNP Somatic 7 0.255 SQHIGH 27 27 54 0 50 50 Cosmic_Gene C C G C C TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 3853 12 52881670 52881670 95 ALL relapse snv ERBB3 nonsense E952* NM_001982 10-PAPGYC PA2G4|ERBB3 TSS-UPSTREAM|NONSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 15 0.640 SQHIGH 33 25 58 0 67 67 Cosmic_Gene G G T G G TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 5036|2065 12 56493446 56493446 140 ALL relapse snv CHD8 silent P1996P NM_001170629 10-PAPGYC CHD8|SNORD9 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 6 0.230 SQHIGH 9 17 26 1 19 20 Cosmic_Gene T T G T T TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 57680|692053 14 21861966 21861966 18 ALL relapse snv FIZ1 splice_region V99_E3splice_region NM_032836 10-PAPGYC FIZ1 ACCEPTOR SNP Somatic 7 0.255 SQHIGH 11 19 30 0 30 30 T T C T T TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 84922 19 56105020 56105020 38 ALL relapse snv FBXW4P1 EXON E4_exon NM_004327 10-PAPGYC BCR|FBXW4P1 INTRON|UTR SNP Somatic 9 0.311 SQHIGH 13 9 22 1 36 37 Cosmic_Gene G G A G G TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 613|26226 22 23605042 23605042 59 ALL relapse complex TREML4 frameshift K78fs NM_198153 10-PAPGYC TREML4 FRAMESHIFT Sub Somatic -2 0.481 SQHIGH 17 9 27 0 35 36 Cosmic_Gene AG AG AAA AG AG TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 285852 6 41196621 41196622 82 ALL diagnosis snv FMOD missense T203M NM_002023 10-PAPGYC FMOD MISSENSE SNP Somatic 4 0.180 SQHIGH 9 30 39 0 47 47 Cosmic_Gene G G A G G TARGET-10-PAPGYC-09A-01D TARGET-10-PAPGYC-14A-01D 2331 1 203316791 203316791 33 ALL diagnosis snv COL4A4 missense R947Q NM_000092 10-PAPGYC COL4A4 MISSENSE SNP Somatic 8 0.275 SQHIGH 9 20 29 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPGYC-09A-01D TARGET-10-PAPGYC-14A-01D 1286 2 227919330 227919330 31 ALL diagnosis snv PKHD1 missense E1639D NM_138694 10-PAPGYC PKHD1 MISSENSE SNP Somatic 7 0.249 SQHIGH 20 32 52 0 60 60 Cosmic_Gene C C A C C TARGET-10-PAPGYC-09A-01D TARGET-10-PAPGYC-14A-01D 5314 6 51889691 51889691 77 ALL diagnosis snv JAK2 missense R683S NM_004972 10-PAPGYC JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 2 0.151 SQHIGH 6 18 24 0 21 21 COSMIC:mut:29302 Cosmic_Gene A A T A A TARGET-10-PAPGYC-09A-01D TARGET-10-PAPGYC-14A-01D 3717 9 5078362 5078362 18 ALL diagnosis snv LOC100133077 EXON E3_exon NM_000718 10-PAPGYC CACNA1B|LOC100133077 INTRON|UTR SNP Somatic -1 0.115 SQHIGH 6 24 30 0 32 32 Cosmic_Gene C C T C C TARGET-10-PAPGYC-09A-01D TARGET-10-PAPGYC-14A-01D 774|100133077 9 140786616 140786616 20 ALL diagnosis snv LARP6 missense K446E NM_018357 10-PAPGYC LARP6 MISSENSE SNP Somatic 10 0.340 SQHIGH 14 27 41 0 52 52 T T C T T TARGET-10-PAPGYC-09A-01D TARGET-10-PAPGYC-14A-01D 55323 15 71124531 71124531 56 ALL diagnosis snv TEX13A silent S269S NM_031274 10-PAPGYC TEX13A|IL1RAPL2 SYNONYMOUS|INTRON SNP dbsnp.132:rs111640100 Somatic 4 0.180 SQHIGH 16 59 75 0 51 51 Cosmic_Gene C C T C C TARGET-10-PAPGYC-09A-01D TARGET-10-PAPGYC-14A-01D 56157|26280 X 104464069 104464069 39 ALL diagnosis snv GRIK3 missense D530N NM_000831 10-PAPHCJ GRIK3 MISSENSE SNP Somatic -1 0.091 SQHIGH 10 40 50 0 56 56 Cosmic_Gene C C T C C TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 2899 1 37291370 37291370 35 ALL diagnosis snv PAPPA2 missense R891H NM_020318 10-PAPHCJ PAPPA2 MISSENSE SNP Somatic 2 0.125 SQHIGH 7 28 35 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 60676 1 176664921 176664921 25 ALL diagnosis snv CPS1 nonsense W882* NM_001122633 10-PAPHCJ CPS1|CPS1-IT1 NONSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF02787:CPSase_L_D3 1 0.112 SQHIGH 13 27 40 0 48 48 Cosmic_Gene G G A G G TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 1373|29034 2 211481206 211481206 50 ALL diagnosis snv ALPI missense N321K NM_001631 10-PAPHCJ ALPI MISSENSE SNP Somatic 11 0.370 SQHIGH 9 14 23 0 29 29 Cosmic_Gene C C A C C TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 248 2 233322814 233322814 37 ALL diagnosis snv CDH9 splice G215_E5splice NM_016279 10-PAPHCJ CDH9 DISRUPT SNP Somatic -7 0.054 SQHIGH 6 30 36 0 46 46 Cosmic_Gene C C A C C TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 1007 5 26906236 26906236 23 ALL diagnosis snv VGF missense E356G NM_003378 10-PAPHCJ VGF MISSENSE SNP Somatic -3 0.075 SQHIGH 5 20 25 0 30 30 T T C T T TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 7425 7 100807058 100807058 18 ALL diagnosis snv ASB10 missense R49H NM_001142459 10-PAPHCJ ASB10 INTRON,MISSENSE SNP Somatic 5 0.175 SQHIGH 7 15 22 1 34 35 C C T C C TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 136371 7 150884072 150884072 24 ALL diagnosis snv PTPRJ missense A1042T NM_002843 10-PAPHCJ PTPRJ MISSENSE SNP Somatic 12 0.421 SQHIGH 17 23 40 0 43 43 Cosmic_Gene G G A G G TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 5795 11 48171721 48171721 64 ALL diagnosis snv H1FNT missense A176T NM_181788 10-PAPHCJ H1FNT MISSENSE SNP Somatic 3 0.139 SQHIGH 11 38 49 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 341567 12 48723600 48723600 30 ALL diagnosis snv PRSS36 silent A408A NM_173502 10-PAPHCJ PRSS36 SYNONYMOUS SNP Somatic PFAM:PF00089:Trypsin 4 0.157 SQHIGH 4 19 23 0 24 24 Cosmic_Gene G G A G G TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 146547 16 31154191 31154191 13 ALL diagnosis snv MOCOS missense R280C NM_017947 10-PAPHCJ MOCOS MISSENSE SNP Somatic PFAM:PF03841:SelA -3 0.075 SQHIGH 7 21 28 0 23 23 Cosmic_Gene C C T C C TARGET-10-PAPHCJ-09A-01D TARGET-10-PAPHCJ-14A-01D 55034 18 33780184 33780184 20 ALL diagnosis snv PEX14 silent P236P NM_004565 10-PAPHEK PEX14 SYNONYMOUS SNP Somatic 4 0.156 SQHIGH 24 29 53 0 49 49 Cosmic_Gene G G A G G TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 5195 1 10689618 10689618 82 ALL diagnosis snv RYR2 splice_region R3613_E76splice_region NM_001035 10-PAPHEK RYR2 DONOR SNP Somatic 15 0.634 SQHIGH 20 24 44 0 30 30 Cosmic_Gene G G T G G TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 6262 1 237890503 237890503 55 ALL diagnosis snv FMN2 missense E1479G NM_020066 10-PAPHEK FMN2 MISSENSE SNP Somatic PFAM:PF02181:FH2 -8 0.052 SQHIGH 9 33 42 0 39 39 Cosmic_Gene A A G A A TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 56776 1 240492767 240492767 28 ALL diagnosis snv REG1B missense P129L NM_006507 10-PAPHEK REG1B MISSENSE SNP Somatic 11 0.351 SQHIGH 21 29 50 1 34 35 Cosmic_Gene G G A G G TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 5968 2 79312665 79312665 47 ALL diagnosis snv ESRG EXON E10_exon NM_018398 10-PAPHEK ESRG|CACNA2D3 UTR|INTRON SNP Somatic -2 0.088 SQHIGH 9 24 33 1 30 31 Cosmic_Gene T T A T T TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 790952|55799 3 54672891 54672891 21 ALL diagnosis snv ARMC3 splice_region V610_E14splice_region NM_173081 10-PAPHEK ARMC3 DONOR SNP Somatic -7 0.057 SQHIGH 5 16 21 2 47 49 A A G A A TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 219681 10 23295914 23295914 17 ALL diagnosis snv ARNTL2 silent V211V NM_020183 10-PAPHEK ARNTL2 SYNONYMOUS SNP Somatic PFAM:PF00989:PAS 14 0.539 SQHIGH 11 20 31 0 39 39 Cosmic_Gene C C G C C TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 56938 12 27540229 27540229 44 ALL diagnosis snv NOL4 missense T281A NM_003787 10-PAPHEK NOL4 UTR5,MISSENSE,UTR SNP Somatic -2 0.088 SQHIGH 8 12 20 1 23 24 Cosmic_Gene T T C T T TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 8715 18 31599497 31599497 23 ALL diagnosis snv TP53INP2 silent G34G NM_021202 10-PAPHEK TP53INP2 SYNONYMOUS SNP Somatic -7 0.057 SQHIGH 4 14 18 0 28 28 C C A C C TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 58476 20 33296645 33296645 17 ALL diagnosis mnv SFRP4 missense S99_V100>SS NM_003014 10-PAPHEK EPDR1|SFRP4 TSS-UPSTREAM|MISSENSE Sub Somatic -9 0.266 SQHIGH 4 12 16 0 24 24 Cosmic_Gene CACC CACC GCTT CACC CACC TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 54749|6424 7 37955840 37955843 17 ALL relapse snv CDK11A missense D71N NM_024011 10-PAPHEK CDK11A MISSENSE SNP Somatic 1 0.118 SQHIGH 20 25 45 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 728642 1 1653051 1653051 59 ALL relapse snv PCDH10 missense Y22D NM_032961 10-PAPHEK PCDH10 MISSENSE SNP Somatic PFAM:PF00028:Cadherin 6 0.208 SQHIGH 18 36 54 0 63 63 Cosmic_Gene T T G T T TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 57575 4 134071359 134071359 68 ALL relapse snv RXFP3 missense R319Q NM_016568 10-PAPHEK RXFP3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 9 0.297 SQHIGH 12 14 26 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 51289 5 33937801 33937801 49 ALL relapse snv RFK silent S20S NM_018339 10-PAPHEK RPSAP9|RFK TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF01687:Flavokinase -6 0.061 SQHIGH 5 21 26 0 35 35 G G C G G TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 653162|55312 9 79009028 79009028 20 ALL relapse snv MUSK missense N6Y NM_005592 10-PAPHEK MUSK MISSENSE SNP Somatic 4 0.161 SQHIGH 19 43 62 0 68 68 Cosmic_Gene A A T A A TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 4593 9 113431200 113431200 68 ALL relapse snv ABL1 missense H396P NM_005157 10-PAPHEK ABL1 MISSENSE SNP Somatic 9 0.297 SQHIGH 10 17 27 1 48 49 Cosmic_Gene A A C A A TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 25 9 133750356 133750356 41 ALL relapse snv CARD9 missense V130L NM_052813 10-PAPHEK CARD9 MISSENSE SNP Somatic 10 0.336 SQHIGH 8 25 33 1 35 36 Cosmic_Gene C C G C C TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 64170 9 139265532 139265532 20 ALL relapse snv KIAA1549L missense R1574W NM_012194 10-PAPHEK KIAA1549L MISSENSE SNP Somatic 10 0.336 SQHIGH 18 23 41 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 25758 11 33667433 33667433 67 ALL relapse snv PACS1 missense M620I NM_018026 10-PAPHEK PACS1 MISSENSE SNP Somatic PFAM:PF10254:Pacs-1 5 0.184 SQHIGH 13 19 32 0 29 29 Cosmic_Gene G G C G G TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 55690 11 66001277 66001277 43 ALL relapse snv INF2 missense D1171E NM_022489 10-PAPHEK INF2 MISSENSE SNP Somatic -5 0.065 SQHIGH 6 31 37 0 24 24 T T G T T TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 64423 14 105181012 105181012 14 ALL relapse snv NOL4 missense T281A NM_003787 10-PAPHEK NOL4 UTR5,MISSENSE,UTR SNP Somatic -2 0.088 SQHIGH 8 9 17 1 23 24 Cosmic_Gene T T C T T TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 8715 18 31599497 31599497 28 ALL relapse snv VSIG10L missense N741S NM_001163922 10-PAPHEK VSIG10L MISSENSE SNP Somatic -3 0.080 SQHIGH 4 8 12 0 18 18 T T C T T TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 147645 19 51840575 51840575 17 ALL relapse snv F8 missense A563T NM_000132 10-PAPHEK F8 MISSENSE SNP Somatic PFAM:PF00116:COX2 12 0.439 SQHIGH 15 15 30 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 2157 X 154185297 154185297 72 ALL relapse complex DDX26B frameshift G204fs NM_182540 10-PAPHEK DDX26B FRAMESHIFT Sub Somatic -9 0.250 SQHIGH 4 24 28 0 35 35 GG GG GAT GG GG TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 203522 X 134680807 134680808 15 ALL diagnosis snv JAK1 missense S703I NM_002227 10-PAPHGD JAK1 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr -6 0.056 SQHIGH 6 43 49 0 45 45 Cosmic_Gene C C A C C TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 3716 1 65311203 65311203 18 ALL diagnosis snv COL11A1 missense E635D NM_001854 10-PAPHGD COL11A1 MISSENSE SNP Somatic 13 0.413 SQHIGH 10 18 28 0 43 43 Cosmic_Gene T T G T T TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 1301 1 103470039 103470039 45 ALL diagnosis snv UNC80 missense R1257C NM_032504 10-PAPHGD UNC80 MISSENSE SNP Somatic 14 0.488 SQHIGH 20 17 37 1 40 41 C C T C C TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 285175 2 210737617 210737617 69 ALL diagnosis snv PCDHGA9 silent N465N NM_018921 10-PAPHGD PCDHGA8|PCDHGA3|PCDHGB3|PCDHGB5|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2|PCDHGB6 INTRON|INTRON|INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM SNP Somatic 4 0.136 SQHIGH 24 26 50 1 42 43 Cosmic_Gene C C T C C TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 9708|56112|56102|56101|56111|56107|56104|56108|8641|56113|56110|56114|56109|56103|56100 5 140783914 140783914 67 ALL diagnosis snv GJC3 missense P73Q NM_181538 10-PAPHGD GJC3 MISSENSE SNP Somatic PFAM:PF00029:Connexin -3 0.070 SQHIGH 3 21 24 0 44 44 Cosmic_Gene G G T G G TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 349149 7 99527026 99527026 14 ALL diagnosis snv CCDC186 missense V198M NM_018017 10-PAPHGD CCDC186 MISSENSE SNP Somatic 17 0.802 SQHIGH 17 22 39 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 55088 10 115922436 115922436 57 ALL diagnosis snv TCTN1 silent Y470Y NM_001082538 10-PAPHGD TCTN1 SYNONYMOUS SNP Somatic 13 0.413 SQHIGH 16 19 35 0 29 29 C C T C C TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 79600 12 111082850 111082850 51 ALL diagnosis snv SLC7A8 nonsense R346* NM_012244 10-PAPHGD SLC7A8 NONSENSE SNP Somatic PFAM:PF01490:Aa_trans -32 0.003 4 32 36 2 46 48 Cosmic_Gene G G A G G TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 23428 14 23600747 23600747 7 ALL diagnosis snv BLOC1S6 silent L137L NM_012388 10-PAPHGD BLOC1S6 SYNONYMOUS SNP Somatic 0 0.093 SQHIGH 3 10 13 0 27 27 Cosmic_Gene T T C T T TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 26258 15 45898604 45898604 15 ALL diagnosis snv FBN3 missense E534K NM_032447 10-PAPHGD FBN3 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 17 0.802 SQHIGH 13 17 30 0 33 33 Cosmic_Gene C C T C C TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 84467 19 8197982 8197982 49 ALL diagnosis snv LOC100507373 EXON E4_exon NM_001008701 10-PAPHGD LPHN1 INTRON SNP Somatic 6 0.170 SQHIGH 16 35 51 0 79 79 Cosmic_Gene C C T C C TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 22859 19 14281453 14281453 72 ALL diagnosis snv NPBWR2 silent L288L NM_005286 10-PAPHGD NPBWR2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 1 0.102 SQHIGH 7 30 37 0 32 32 Cosmic_Gene C C A C C TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 2832 20 62737321 62737321 20 ALL diagnosis mnv HYMAI EXON E1_exon NM_002656 10-PAPHGD PLAGL1|HYMAI INTRON|UTR Sub Somatic -7 0.294 SQHIGH 4 19 23 0 32 32 Cosmic_Gene GCAA GCAA CAGG GCAA GCAA TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 5325|57061 6 144328186 144328189 16 ALL diagnosis snv CD28 missense K24M NM_006139 10-PAPHJF CD28 MISSENSE SNP Somatic -4 0.080 SQHIGH 5 32 37 0 34 34 A A T A A TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 940 2 204591374 204591374 15 ALL diagnosis snv PRR23C missense P252L NM_001134657 10-PAPHJF PRR23C MISSENSE SNP Somatic PFAM:PF10630:DUF2476 -1 0.106 SQHIGH 7 34 41 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 389152 3 138762708 138762708 19 ALL diagnosis snv ARSJ missense G175R NM_024590 10-PAPHJF ARSJ MISSENSE SNP Somatic PFAM:PF00884:Sulfatase -13 0.040 22 27 49 1 47 48 Cosmic_Gene C C T C C TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 79642 4 114824707 114824707 67 ALL diagnosis snv PKHD1 missense T3695S NM_138694 10-PAPHJF PKHD1 MISSENSE SNP Somatic 16 0.731 SQHIGH 21 24 45 0 37 37 Cosmic_Gene G G C G G TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 5314 6 51523840 51523840 67 ALL diagnosis snv GNGT1 missense V44I NM_021955 10-PAPHJF GNGT1 MISSENSE SNP dbsnp.134:rs149827734 Somatic 15 0.661 SQHIGH 12 15 27 0 33 33 G G A G G TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 2792 7 93540135 93540135 49 ALL diagnosis snv ANK1 missense T1693M NM_020476 10-PAPHJF ANK1 MISSENSE SNP Somatic 7 0.239 SQHIGH 10 28 38 0 52 52 Cosmic_Gene G G A G G TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 286 8 41529890 41529890 41 ALL diagnosis snv C10orf90 silent P73P NM_001004298 10-PAPHJF C10orf90 SYNONYMOUS SNP Somatic 15 0.661 SQHIGH 42 37 79 0 53 53 Cosmic_Gene C C T C C TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 118611 10 128193550 128193550 121 ALL diagnosis snv EXT2 missense R426Q NM_000401 10-PAPHJF EXT2 INTRON,MISSENSE SNP dbsnp.134:rs138187791 Somatic 18 0.897 SQHIGH 18 20 38 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 2132 11 44193165 44193165 65 ALL diagnosis snv ELMOD1 silent D75D NM_018712 10-PAPHJF ELMOD1 SYNONYMOUS SNP Somatic -4 0.080 SQHIGH 5 27 32 0 41 41 C C T C C TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 55531 11 107502338 107502338 19 ALL diagnosis snv ATM missense Y1248H NM_000051 10-PAPHJF ATM MISSENSE SNP Somatic 9 0.296 SQHIGH 13 14 27 0 19 19 Cosmic_Gene T T C T T TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 472 11 108153602 108153602 37 ALL diagnosis snv SETD1B missense R1755C NM_015048 10-PAPHJF SETD1B MISSENSE SNP Somatic PFAM:PF11764:N-SET 1 0.128 SQHIGH 7 17 24 0 20 20 Cosmic_Gene C C T C C TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 23067 12 122265479 122265479 20 ALL diagnosis snv LARGE-AS1 EXON E3_exon NM_004737 10-PAPHJF LOC100506195|LARGE UTR|INTRON SNP dbsnp.132:rs114194276 Somatic 10 0.330 SQHIGH 12 17 29 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 100506195|9215 22 34146704 34146704 42 ALL diagnosis snv TFE3 missense R188H NM_006521 10-PAPHJF TFE3 MISSENSE SNP Somatic 11 0.372 SQHIGH 9 29 38 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 7030 X 48895939 48895939 30 ALL diagnosis snv FAM46D missense V67I NM_001170574 10-PAPHJF FAM46D MISSENSE SNP dbsnp.134:rs137952753 Somatic PFAM:PF07984:DUF1693 14 0.556 SQHIGH 21 19 40 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPHJF-09A-01D TARGET-10-PAPHJF-10A-01D 169966 X 79698237 79698237 65 ALL diagnosis snv ABCG8 splice S21S NM_022437 10-PAPHMH ABCG8|ABCG5 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 3 0.168 SQHIGH 17 23 40 1 30 31 Cosmic_Gene G G A G G TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 64241|64240 2 44066255 44066255 40 ALL diagnosis snv GPR125 missense T371I NM_145290 10-PAPHMH GPR125 MISSENSE SNP Somatic PFAM:PF02793:HRM 9 0.310 SQHIGH 9 21 30 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 166647 4 22438238 22438238 38 ALL diagnosis snv NPSR1-AS1 EXON E5_exon NM_207172 10-PAPHMH AAA1|NPSR1 UTR|INTRON SNP Somatic 13 0.498 SQHIGH 26 38 64 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 404744|387129 7 34873778 34873778 85 ALL diagnosis snv EPS8 missense V233L NM_004447 10-PAPHMH EPS8 MISSENSE SNP Somatic 2 0.153 SQHIGH 5 18 23 0 18 18 Cosmic_Gene C C A C C TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 2059 12 15818729 15818729 13 ALL diagnosis snv NRXN3 missense L19F NM_004796 10-PAPHMH NRXN3 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin 6 0.227 SQHIGH 18 27 45 0 28 28 Cosmic_Gene G G T G G TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 9369 14 79117624 79117624 45 ALL diagnosis snv SEMA6D missense M596T NM_020858 10-PAPHMH SEMA6D MISSENSE SNP Somatic 10 0.347 SQHIGH 12 29 41 0 42 42 Cosmic_Gene T T C T T TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 80031 15 48062733 48062733 41 ALL diagnosis snv TNK1 silent L488L NM_003985 10-PAPHMH TNK1 SYNONYMOUS SNP Somatic -7 0.071 SQHIGH 15 20 35 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 8711 17 7290763 7290763 49 ALL diagnosis snv KIAA0355 missense V481M NM_014686 10-PAPHMH KIAA0355 MISSENSE SNP Somatic 12 0.439 SQHIGH 14 25 39 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 9710 19 34830851 34830851 42 ALL diagnosis snv C20orf194 silent V779V NM_001009984 10-PAPHMH C20orf194 SYNONYMOUS SNP Somatic 2 0.153 SQHIGH 16 33 49 0 52 52 C C T C C TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 25943 20 3268427 3268427 57 ALL diagnosis snv EBF1 missense N461I NM_024007 10-PAPHRT EBF1 MISSENSE SNP Somatic 2 0.111 SQHIGH 15 24 39 2 47 49 Cosmic_Gene T T A T T TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 1879 5 158139329 158139329 43 ALL diagnosis snv TAP2 missense K143M NM_001290043 10-PAPHRT TAP2 MISSENSE SNP Somatic -7 0.049 SQHIGH 3 18 21 0 37 37 T T A T T TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 6891 6 32805583 32805583 14 ALL diagnosis snv ZNF76 missense N548T NM_003427 10-PAPHRT ZNF76|DEF6 MISSENSE|TSS-UPSTREAM SNP Somatic 1 0.100 SQHIGH 5 21 26 0 18 18 A A C A A TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 7629|50619 6 35262955 35262955 12 ALL diagnosis snv RAB32 splice_region G84_E2splice_region NM_006834 10-PAPHRT RAB32 ACCEPTOR SNP Somatic 9 0.237 SQHIGH 19 24 43 0 41 41 G G T G G TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 10981 6 146870594 146870594 66 ALL diagnosis snv CHAT missense A508E NM_001142929 10-PAPHRT CHAT MISSENSE SNP Somatic PFAM:PF00755:Carn_acyltransf -7 0.049 SQHIGH 5 20 25 0 25 25 Cosmic_Gene C C A C C TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 1103 10 50870728 50870728 16 ALL diagnosis snv CTTN silent E441E NM_005231 10-PAPHRT CTTN SYNONYMOUS SNP Somatic -6 0.054 SQHIGH 13 21 34 1 35 36 Cosmic_Gene G G A G G TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 2017 11 70279263 70279263 37 ALL diagnosis snv PARD6G-AS1 EXON E2_exon NM_032510 10-PAPHRT PARD6G|LOC100130522 INTRON|INTRON,UTR SNP Somatic -9 0.042 SQHIGH 5 57 62 0 62 62 T T C T T TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 84552|100130522 18 77927534 77927534 15 ALL diagnosis snv PRKD2 missense V478M NM_016457 10-PAPHRT PRKD2 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 17 0.808 SQHIGH 16 20 36 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 25865 19 47197276 47197276 71 ALL diagnosis snv HSPBP1 nonsense Y153* NM_012267 10-PAPHRT HSPBP1 NONSENSE SNP Somatic -34 0.002 5 11 16 0 13 13 G G T G G TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 23640 19 55785947 55785947 14 ALL diagnosis complex RFXANK frameshift Y169fs NM_003721 10-PAPHRT RFXANK FRAMESHIFT Sub Somatic PFAM:PF12796:Ank_2 -9 0.265 SQHIGH 4 14 18 0 25 25 Cosmic_Gene CTA CTA CCAG CTA CTA TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 8625 19 19308981 19308983 16 ALL diagnosis snv ZMYM6 silent V317V NM_007167 10-PAPHWH ZMYM6 SYNONYMOUS SNP Somatic 15 0.562 SQHIGH 11 15 26 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 9204 1 35477602 35477602 45 ALL diagnosis snv COL8A1 missense V157D NM_001850 10-PAPHWH COL8A1 MISSENSE SNP Somatic 14 0.476 SQHIGH 21 26 47 1 36 37 T T A T T TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 1295 3 99513215 99513215 53 ALL diagnosis snv ARMC8 silent F348F NM_014154 10-PAPHWH ARMC8 SYNONYMOUS SNP Somatic 9 0.232 SQHIGH 8 26 34 0 47 47 C C T C C TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 25852 3 137963977 137963977 32 ALL diagnosis snv FAM170A nonsense R77* NM_182761 10-PAPHWH FAM170A NONSENSE SNP Somatic 15 0.562 SQHIGH 20 18 38 1 37 38 Cosmic_Gene C C T C C TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 340069 5 118969672 118969672 63 ALL diagnosis snv DDX46 missense A566S NM_014829 10-PAPHWH DDX46 MISSENSE SNP Somatic 9 0.232 SQHIGH 14 21 35 1 36 37 Cosmic_Gene G G T G G TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 9879 5 134130609 134130609 41 ALL diagnosis snv EZR missense R388H NM_003379 10-PAPHWH EZR MISSENSE SNP Somatic PFAM:PF00769:ERM -39 0.000 4 23 27 0 41 41 Cosmic_Gene C C T C C TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 7430 6 159190904 159190904 17 ALL diagnosis snv ZSWIM8 nonsense C38* NM_015037 10-PAPHWH ZSWIM8 NONSENSE SNP Somatic 13 0.403 SQHIGH 9 12 21 0 23 23 Cosmic_Gene C C A C C TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 23053 10 75545750 75545750 34 ALL diagnosis snv NELL1 silent A57A NM_006157 10-PAPHWH NELL1 SYNONYMOUS SNP Somatic PFAM:PF00354:Pentaxin 10 0.263 SQHIGH 27 37 64 1 50 51 Cosmic_Gene A A G A A TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 4745 11 20699593 20699593 70 ALL diagnosis snv VWF missense I1827N NM_000552 10-PAPHWH VWF MISSENSE SNP Somatic 2 0.112 SQHIGH 29 39 68 0 45 45 Cosmic_Gene A A T A A TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 7450 12 6122787 6122787 77 ALL diagnosis snv KRT5 missense L65F NM_000424 10-PAPHWH KRT5 MISSENSE SNP Somatic 11 0.298 SQHIGH 21 17 38 1 49 50 G G A G G TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 3852 12 52913888 52913888 83 ALL diagnosis snv SLC35F4 silent L208L NM_001206920 10-PAPHWH SLC35F4 SYNONYMOUS SNP Somatic 6 0.165 SQHIGH 7 21 28 0 36 36 Cosmic_Gene C C T C C TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 341880 14 58048112 58048112 27 ALL diagnosis snv LEO1 missense E265K NM_138792 10-PAPHWH LEO1 MISSENSE SNP Somatic -9 0.045 SQHIGH 6 49 55 0 57 57 C C T C C TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 123169 15 52257967 52257967 19 ALL diagnosis complex ARFGAP3 frameshift A252fs NM_014570 10-PAPHWH ARFGAP3 FRAMESHIFT Sub Somatic 2 0.722 SQHIGH 12 24 36 1 44 45 Cosmic_Gene CC CC CAGG CC CC TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 26286 22 43218331 43218332 38 ALL relapse snv FOXO6 missense D469G NM_001291281 10-PAPIDY FOXO6 MISSENSE SNP Somatic -10 0.053 SQHIGH 3 14 17 0 54 54 A A G A A TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 100132074 1 41848280 41848280 19 ALL relapse snv LOC101928118 EXON E5_exon NM_152487 10-PAPIDY TMEM56-RWDD3|TMEM56 INTRON|INTRON SNP Somatic -7 0.067 SQHIGH 6 29 35 0 52 52 G G A G G TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 100527978|148534 1 95630188 95630188 25 ALL relapse snv CADM3-AS1 EXON E10_exon NM_021189 10-PAPIDY LOC100131825|DARC|CADM3 UTR|TSS-UPSTREAM|UTR3 SNP Somatic -6 0.073 SQHIGH 12 92 104 0 156 156 Cosmic_Gene C C G C C TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 100131825|2532|57863 1 159172167 159172167 49 ALL relapse snv ESRRG missense I214V NM_001438 10-PAPIDY ESRRG MISSENSE,UTR SNP Somatic 3 0.167 SQHIGH 11 36 47 1 42 43 Cosmic_Gene T T C T T TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 2104 1 216741390 216741390 25 ALL relapse snv SEMA4F silent T252T NM_004263 10-PAPIDY SEMA4F SYNONYMOUS SNP Somatic PFAM:PF01403:Sema -2 0.103 SQHIGH 13 70 83 0 121 121 Cosmic_Gene G G A G G TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 10505 2 74900889 74900889 53 ALL relapse snv DROSHA missense M861I NM_013235 10-PAPIDY DROSHA MISSENSE SNP Somatic 6 0.234 SQHIGH 16 37 53 0 51 51 Cosmic_Gene C C T C C TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 29102 5 31451739 31451739 53 ALL relapse snv WIPF3 silent A460A NM_001080529 10-PAPIDY WIPF3 SYNONYMOUS SNP Somatic -9 0.057 SQHIGH 5 27 32 0 54 54 Cosmic_Gene G G T G G TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 644150 7 29943930 29943930 22 ALL relapse snv EZH2 missense D732N NM_001203247 10-PAPIDY EZH2 MISSENSE SNP Somatic PFAM:PF00856:SET -7 0.067 SQHIGH 5 30 35 0 61 61 Cosmic_Gene C C T C C TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 2146 7 148504785 148504785 23 ALL relapse snv TNKS missense R781T NM_003747 10-PAPIDY TNKS MISSENSE SNP Somatic -8 0.061 SQHIGH 5 39 44 0 74 74 Cosmic_Gene G G C G G TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 8658 8 9592403 9592403 22 ALL relapse snv MMP13 missense T323M NM_002427 10-PAPIDY MMP13 MISSENSE SNP Somatic 11 0.429 SQHIGH 7 18 25 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 4322 11 102819837 102819837 26 ALL relapse snv ETV6 missense F368L NM_001987 10-PAPIDY ETV6 MISSENSE SNP Somatic PFAM:PF00178:Ets -2 0.103 SQHIGH 9 57 66 0 80 80 Cosmic_Gene T T C T T TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 2120 12 12037471 12037471 32 ALL relapse snv CCER1 missense E177Q NM_152638 10-PAPIDY CCER1 MISSENSE SNP Somatic 4 0.185 SQHIGH 14 42 56 0 68 68 Cosmic_Gene C C G C C TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 196477 12 91347991 91347991 53 ALL relapse snv LMO7 missense T714A NM_005358 10-PAPIDY LMO7 MISSENSE SNP Somatic -2 0.103 SQHIGH 9 21 30 1 48 49 Cosmic_Gene A A G A A TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 4008 13 76407223 76407223 33 ALL relapse snv CT62 missense M86K NM_001102658 10-PAPIDY CT62 MISSENSE SNP Somatic 5 0.205 SQHIGH 16 46 62 0 105 105 A A T A A TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 196993 15 71403644 71403644 75 ALL relapse snv PARD6A missense F139L NM_016948 10-PAPIDY PARD6A|C16orf86|ACD MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 14 0.631 SQHIGH 9 28 37 0 63 63 Cosmic_Gene C C G C C TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 50855|388284|65057 16 67695926 67695926 42 ALL relapse snv SBNO2 missense C1146W NM_014963 10-PAPIDY SBNO2 MISSENSE SNP Somatic -4 0.086 SQHIGH 3 4 7 0 28 28 G G C G G TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 22904 19 1108956 1108956 23 ALL relapse snv OR2Z1 missense S157F NM_001004699 10-PAPIDY OR2Z1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -6 0.073 SQHIGH 10 69 79 0 119 119 Cosmic_Gene C C T C C TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 284383 19 8841860 8841860 41 ALL relapse snv PHEX silent S181S NM_000444 10-PAPIDY PHEX SYNONYMOUS SNP Somatic 7 0.263 SQHIGH 9 28 37 0 76 76 Cosmic_Gene A A G A A TARGET-10-PAPIDY-04A-01D TARGET-10-PAPIDY-10A-01D 5251 X 22095700 22095700 47 ALL diagnosis snv UAP1 missense E141Q NM_003115 10-PAPIDY UAP1 MISSENSE SNP Somatic 14 0.679 SQHIGH 25 15 40 0 28 28 Cosmic_Gene G G C G G TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 6675 1 162546707 162546707 78 ALL diagnosis snv CACNA1E missense R1121H NM_000721 10-PAPIDY CACNA1E MISSENSE SNP Somatic 1 0.130 SQHIGH 45 79 124 0 125 125 Cosmic_Gene G G A G G TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 777 1 181705510 181705510 158 ALL diagnosis snv ESRRG missense I214V NM_001438 10-PAPIDY ESRRG MISSENSE,UTR SNP Somatic 9 0.376 SQHIGH 16 26 42 1 42 43 Cosmic_Gene T T C T T TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 2104 1 216741390 216741390 46 ALL diagnosis snv WDR35 silent L249L NM_001006657 10-PAPIDY WDR35 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 11 0.482 SQHIGH 9 16 25 0 41 41 Cosmic_Gene C C T C C TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 57539 2 20173459 20173459 43 ALL diagnosis snv WDR43 silent V271V NM_015131 10-PAPIDY WDR43 SYNONYMOUS SNP Somatic 7 0.295 SQHIGH 21 34 55 0 49 49 Cosmic_Gene C C G C C TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 23160 2 29140825 29140825 68 ALL diagnosis snv HYMAI EXON E1_exon NM_002656 10-PAPIDY PLAGL1|HYMAI INTRON|UTR SNP Somatic 1 0.130 SQHIGH 8 6 14 0 12 12 Cosmic_Gene G G C G G TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 5325|57061 6 144326235 144326235 27 ALL diagnosis snv HOXA7 missense E146K NM_006896 10-PAPIDY HOXA7|LOC100133311 MISSENSE|UTR SNP Somatic 5 0.214 SQHIGH 21 27 48 0 46 46 C C T C C TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 3204|100133311 7 27194785 27194785 73 ALL diagnosis snv OCM2 missense F30L NM_006188 10-PAPIDY OCM2 MISSENSE SNP Somatic 12 0.543 SQHIGH 15 34 49 1 65 66 G G C G G TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 4951 7 97617832 97617832 51 ALL diagnosis snv NEFL nonsense E531* NM_006158 10-PAPIDY NEFL NONSENSE SNP Somatic 7 0.295 SQHIGH 26 35 61 0 76 76 Cosmic_Gene C C A C C TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 4747 8 24810364 24810364 108 ALL diagnosis snv FGD3 missense E476K NM_001083536 10-PAPIDY FGD3 MISSENSE SNP Somatic 1 0.130 SQHIGH 34 67 101 0 112 112 Cosmic_Gene G G A G G TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 89846 9 95782638 95782638 125 ALL diagnosis snv AAED1 missense D168H NM_153698 10-PAPIDY AAED1 MISSENSE SNP Somatic 10 0.425 SQHIGH 11 21 32 0 33 33 Cosmic_Gene C C G C C TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 195827 9 99408226 99408226 38 ALL diagnosis snv KDM2A silent T1042T NM_012308 10-PAPIDY KDM2A SYNONYMOUS,UTR SNP Somatic -20 0.016 6 69 75 1 107 108 Cosmic_Gene C C T C C TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 22992 11 67021708 67021708 17 ALL diagnosis snv ETV6 missense F368L NM_001987 10-PAPIDY ETV6 MISSENSE SNP Somatic PFAM:PF00178:Ets 12 0.543 SQHIGH 33 37 70 0 80 80 Cosmic_Gene T T C T T TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 2120 12 12037471 12037471 132 ALL diagnosis snv NAV3 missense S551C NM_014903 10-PAPIDY NAV3 MISSENSE SNP Somatic 15 0.768 SQHIGH 26 32 58 0 59 59 Cosmic_Gene C C G C C TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 89795 12 78400970 78400970 95 ALL diagnosis snv PTPN11 missense E76K NM_002834 10-PAPIDY PTPN11 MISSENSE SNP dbsnp.133:rs121918464 Somatic 7 0.295 SQHIGH 22 28 50 0 40 40 COSMIC:mut:13000 Cosmic_Gene G G A G G TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 5781 12 112888210 112888210 68 ALL diagnosis snv LMO7 missense T714A NM_005358 10-PAPIDY LMO7 MISSENSE SNP Somatic 15 0.768 SQHIGH 13 15 28 1 48 49 Cosmic_Gene A A G A A TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 4008 13 76407223 76407223 57 ALL diagnosis snv CT62 missense M86K NM_001102658 10-PAPIDY CT62 MISSENSE SNP Somatic 11 0.482 SQHIGH 70 63 133 0 105 105 A A T A A TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 196993 15 71403644 71403644 226 ALL diagnosis snv ZFHX3 silent T647T NM_006885 10-PAPIDY ZFHX3 SYNONYMOUS,INTRON SNP Somatic 9 0.376 SQHIGH 22 31 53 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 463 16 72992104 72992104 75 ALL diagnosis snv FA2H splice_region W169_E4splice_region NM_024306 10-PAPIDY FA2H ACCEPTOR SNP Somatic 8 0.333 SQHIGH 34 41 75 2 70 72 G G A G G TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 79152 16 74760236 74760236 96 ALL diagnosis snv MEX3C missense V248I NM_016626 10-PAPIDY MEX3C MISSENSE SNP Somatic 3 0.164 SQHIGH 9 28 37 1 36 37 Cosmic_Gene C C T C C TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 51320 18 48722949 48722949 22 ALL diagnosis snv UBA2 nonsense E13* NM_005499 10-PAPIDY UBA2 NONSENSE SNP Somatic 4 0.187 SQHIGH 9 19 28 0 32 32 Cosmic_Gene G G T G G TARGET-10-PAPIDY-09A-01D TARGET-10-PAPIDY-10A-01D 10054 19 34919374 34919374 33 ALL diagnosis snv WDFY3 missense R2355Q NM_014991 10-PAPIGX WDFY3 MISSENSE SNP Somatic -2 0.100 SQHIGH 10 22 32 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 23001 4 85654692 85654692 36 ALL diagnosis snv GBAS splice_region W206_E8splice_region NM_001483 10-PAPIGX GBAS ACCEPTOR SNP Somatic 11 0.377 SQHIGH 16 28 44 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 2631 7 56062580 56062580 60 ALL diagnosis snv LAMB1 missense V361M NM_002291 10-PAPIGX LAMB1 MISSENSE SNP Somatic 14 0.563 SQHIGH 21 21 42 0 36 36 Cosmic_Gene C C T C C TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 3912 7 107616242 107616242 70 ALL diagnosis snv KAT6A missense N1912S NM_001099412 10-PAPIGX KAT6A MISSENSE SNP Somatic 9 0.299 SQHIGH 22 21 43 0 36 36 T T C T T TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 7994 8 41790003 41790003 73 ALL diagnosis snv BBOX1 missense K324N NM_003986 10-PAPIGX BBOX1 MISSENSE SNP Somatic 6 0.217 SQHIGH 12 16 28 0 31 31 Cosmic_Gene A A C A A TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 8424 11 27147336 27147336 46 ALL diagnosis snv PDE2A silent R458R NM_002599 10-PAPIGX PDE2A SYNONYMOUS,UTR SNP Somatic PFAM:PF01590:GAF 18 0.911 SQHIGH 14 17 31 0 40 40 Cosmic_Gene G G T G G TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 5138 11 72295758 72295758 60 ALL diagnosis snv BACE1 missense D495A NM_012104 10-PAPIGX BACE1|BACE1-AS MISSENSE|TSS-UPSTREAM SNP Somatic -9 0.053 SQHIGH 5 6 11 0 9 9 Cosmic_Gene T T G T T TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 23621|100379571 11 117160304 117160304 15 ALL diagnosis snv DNAH9 silent S142S NM_004662 10-PAPIGX DNAH9 SYNONYMOUS SNP dbsnp.134:rs150055739 Somatic PFAM:PF03028:Dynein_heavy 6 0.217 SQHIGH 9 23 32 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 1770 17 11806119 11806119 33 ALL diagnosis snv TBC1D16 missense R568Q NM_019020 10-PAPIGX TBC1D16 MISSENSE SNP Somatic PFAM:PF00566:TBC 15 0.650 SQHIGH 27 30 57 0 41 41 C C T C C TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 125058 17 77921469 77921469 79 ALL diagnosis snv ANKRD27 splice_region L513_E17splice_region NM_032139 10-PAPIGX ANKRD27 ACCEPTOR SNP Somatic 1 0.132 SQHIGH 9 5 14 0 15 15 Cosmic_Gene C C T C C TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 84079 19 33116876 33116876 37 ALL diagnosis snv LGALS13 missense R53H NM_013268 10-PAPIGX LGALS13 MISSENSE SNP Somatic 1 0.132 SQHIGH 30 63 93 0 76 76 Cosmic_Gene G G A G G TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 29124 19 40095883 40095883 89 ALL diagnosis snv MIR1911 EXON E4_exon NM_000868 10-PAPIGX MIR1911|HTR2C UTR|INTRON SNP Somatic 13 0.490 SQHIGH 21 14 35 0 31 31 Cosmic_Gene C C T C C TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 100302222|3358 X 113997817 113997817 hsa-mir-1911:MI0008332 76 ALL diagnosis snv FAM122B silent S233S NM_145284 10-PAPIGX FAM122B SYNONYMOUS,INTRON SNP Somatic 13 0.490 SQHIGH 19 26 45 0 37 37 G G T G G TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 159090 X 133906217 133906217 59 ALL diagnosis mnv FABP6 missense V4_T5>AK NM_001040442 10-PAPIGX FABP6 MISSENSE Sub Somatic -7 0.318 SQHIGH 7 39 46 3 71 74 TGAC TGAC CCAA TGAC TGAC TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 2172 5 159626124 159626127 14 ALL diagnosis mnv CDK5RAP1 missense D54_F55>EL NM_016408 10-PAPIGX CDK5RAP1 UTR5,MISSENSE Sub Somatic -2 0.487 SQHIGH 9 24 33 1 38 39 Cosmic_Gene AA AA GC AA AA TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 51654 20 31984708 31984709 25 ALL relapse snv MIB2 nonsense R96* NM_080875 10-PAPIJB MIB2 INTRON,NONSENSE,UTR SNP Somatic 8 0.355 SQHIGH 24 30 54 0 37 37 C C T C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 142678 1 1558773 1558773 66 ALL relapse snv EIF4G3 missense G1278S NM_003760 10-PAPIJB EIF4G3 MISSENSE SNP Somatic PFAM:PF02847:MA3 7 0.322 SQHIGH 9 7 16 0 28 28 Cosmic_Gene C C T C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 8672 1 21167410 21167410 48 ALL relapse snv DNAJC6 missense K880I NM_014787 10-PAPIJB DNAJC6 MISSENSE SNP Somatic 21 1.000 SQHIGH 16 17 33 0 37 37 Cosmic_Gene A A T A A TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 9829 1 65877108 65877108 63 ALL relapse snv WDR77 splice_region E188_E5splice_region NM_024102 10-PAPIJB WDR77 DONOR SNP Somatic 9 0.392 SQHIGH 8 27 35 1 56 57 T T C T T TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 79084 1 111986672 111986672 28 ALL relapse snv NRAS missense G13D NM_002524 10-PAPIJB NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 16 0.798 SQHIGH 14 18 32 0 35 35 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 4893 1 115258744 115258744 53 ALL relapse snv IARS2 silent R43R NM_018060 10-PAPIJB IARS2|BPNT1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 8 0.355 SQHIGH 11 28 39 0 31 31 Cosmic_Gene G G T G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 55699|10380 1 220267687 220267687 31 ALL relapse snv ZNF678 silent E373E NM_178549 10-PAPIJB ZNF678 SYNONYMOUS,UTR SNP Somatic -4 0.102 SQHIGH 8 28 36 1 36 37 Cosmic_Gene A A G A A TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 339500 1 227842905 227842905 19 ALL relapse snv KIF26B silent A2044A NM_018012 10-PAPIJB KIF26B SYNONYMOUS SNP Somatic 11 0.481 SQHIGH 16 25 41 0 47 47 Cosmic_Gene G G A G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 55083 1 245862293 245862293 61 ALL relapse snv ADAM17 missense C506F NM_003183 10-PAPIJB ADAM17 MISSENSE SNP Somatic PFAM:PF00200:Disintegrin 8 0.355 SQHIGH 22 18 40 0 24 24 Cosmic_Gene C C A C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 6868 2 9645322 9645322 59 ALL relapse snv MSH6 missense V483M NM_000179 10-PAPIJB MSH6 MISSENSE SNP Somatic PFAM:PF01624:MutS_I 3 0.202 SQHIGH 12 41 53 0 66 66 Cosmic_Gene G G A G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 2956 2 48026569 48026569 46 ALL relapse snv CYP26B1 missense V479I NM_019885 10-PAPIJB CYP26B1 MISSENSE SNP dbsnp.134:rs148075682 Somatic PFAM:PF00067:p450 8 0.355 SQHIGH 43 43 86 0 70 70 Cosmic_Gene C C T C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 56603 2 72359460 72359460 139 ALL relapse snv NCK2 silent V133V NM_003581 10-PAPIJB NCK2 SYNONYMOUS,INTRON SNP Somatic 1 0.164 SQHIGH 15 51 66 0 62 62 Cosmic_Gene G G T G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 8440 2 106497956 106497956 47 ALL relapse snv MYO7B missense E39K NM_001080527 10-PAPIJB MYO7B MISSENSE SNP Somatic 14 0.667 SQHIGH 35 35 70 0 70 70 Cosmic_Gene G G A G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 4648 2 128321824 128321824 130 ALL relapse snv LY75 missense Q1609K NM_002349 10-PAPIJB LY75|LY75-CD302 MISSENSE|INTRON,MISSENSE SNP Somatic 7 0.322 SQHIGH 9 25 34 0 33 33 G G T G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 4065|100526664 2 160663649 160663649 29 ALL relapse snv SLC35F1 missense P373H NM_001029858 10-PAPIJB SLC35F1 MISSENSE SNP Somatic PFAM:PF06027:DUF914 7 0.322 SQHIGH 22 31 53 0 48 48 Cosmic_Gene C C A C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 222553 6 118635306 118635306 73 ALL relapse snv THEMIS silent E402E NM_001164685 10-PAPIJB THEMIS SYNONYMOUS SNP Somatic PFAM:PF12736:CABIT 15 0.737 SQHIGH 36 34 70 1 59 60 Cosmic_Gene C C T C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 387357 6 128134580 128134580 108 ALL relapse snv LOC101926963 EXON E4_exon NM_001164761 10-PAPIJB PRKAR1B|LOC100505500 INTRON|UTR SNP Somatic 16 0.798 SQHIGH 33 36 69 0 61 61 C C T C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 5575|100505500 7 647599 647599 112 ALL relapse snv SPDYE3 missense Q507R NM_001004351 10-PAPIJB SPDYE3 MISSENSE SNP Somatic PFAM:PF11357:Spy1 -9 0.069 SQHIGH 7 56 63 0 35 35 A A G A A TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 441272 7 99917361 99917361 14 ALL relapse snv PTPRZ1 missense S2199R NM_002851 10-PAPIJB PTPRZ1 MISSENSE SNP Somatic 5 0.248 SQHIGH 9 21 30 0 23 23 Cosmic_Gene T T G T T TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 5803 7 121698922 121698922 25 ALL relapse snv C9orf171 missense Q18H NM_207417 10-PAPIJB TTF1|C9orf171 TSS-UPSTREAM|MISSENSE SNP Somatic -8 0.074 SQHIGH 19 20 39 0 11 11 Cosmic_Gene G G T G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 7270|389799 9 135285712 135285712 26 ALL relapse snv ARHGAP20 splice_region S168_E5splice_region NM_020809 10-PAPIJB ARHGAP20 DONOR SNP Somatic 14 0.667 SQHIGH 11 11 22 0 22 22 Cosmic_Gene C C A C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 57569 11 110494881 110494881 40 ALL relapse snv KIF5A missense Q87K NM_004984 10-PAPIJB KIF5A MISSENSE SNP Somatic 8 0.355 SQHIGH 33 28 61 0 69 69 Cosmic_Gene C C A C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 3798 12 57957444 57957444 136 ALL relapse snv PTPN21 missense S413L NM_007039 10-PAPIJB PTPN21 MISSENSE SNP Somatic -1 0.134 SQHIGH 17 48 65 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 11099 14 88946537 88946537 37 ALL relapse snv MAPK8IP3 silent L451L NM_015133 10-PAPIJB MAPK8IP3 SYNONYMOUS SNP Somatic PFAM:PF03114:BAR 11 0.481 SQHIGH 11 24 35 0 39 39 Cosmic_Gene G G C G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 23162 16 1810432 1810432 40 ALL relapse snv CREBBP splice P1279_E21splice NM_004380 10-PAPIJB CREBBP DISRUPT SNP Somatic 9 0.392 SQHIGH 22 1 23 0 34 34 Cosmic_Gene C T T C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 1387 16 3799627 3799627 142 ALL relapse snv EFCAB3 missense K94N NM_001144933 10-PAPIJB EFCAB3 MISSENSE SNP Somatic 6 0.281 SQHIGH 15 44 59 0 44 44 Cosmic_Gene G G T G G TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 146779 17 60464752 60464752 40 ALL relapse snv ABCA10 missense I786N NM_080282 10-PAPIJB ABCA10 MISSENSE SNP Somatic 3 0.202 SQHIGH 14 38 52 0 31 31 Cosmic_Gene A A T A A TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 10349 17 67181758 67181758 32 ALL relapse snv GATA6 missense P54S NM_005257 10-PAPIJB GATA6|LOC100128893 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.148 SQHIGH 10 20 30 0 19 19 Cosmic_Gene C C T C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 2627|100128893 18 19751265 19751265 24 ALL relapse snv SERPINB3 missense G319R NM_006919 10-PAPIJB SERPINB3 MISSENSE SNP Somatic -1 0.134 SQHIGH 16 23 39 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 6317 18 61323109 61323109 47 ALL relapse snv ZNF254 missense T507K NM_203282 10-PAPIJB ZNF254 MISSENSE SNP dbsnp.100:rs2463043 Somatic 1 0.164 SQHIGH 7 23 30 0 39 39 C C A C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 9534 19 24310322 24310322 27 ALL relapse snv PPM1N missense E429G NM_001080401 10-PAPIJB PPM1N MISSENSE SNP Somatic -8 0.074 SQHIGH 5 45 50 0 35 35 A A G A A TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 147699 19 46005336 46005336 12 ALL relapse snv CCNB3 missense N356K NM_033031 10-PAPIJB CCNB3 INTRON,MISSENSE SNP Somatic 13 0.597 SQHIGH 39 28 67 1 53 54 Cosmic_Gene C C A C C TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 85417 X 50052237 50052237 117 ALL relapse complex NEUROD2 missense S31>IL NM_006160 10-PAPIJB NEUROD2 INSERT+ Sub Somatic -3 0.503 SQHIGH 23 37 60 0 26 26 CT CT CAAAA CT CT TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 4761 17 37762761 37762762 43 ALL diagnosis snv MIB2 nonsense R96* NM_080875 10-PAPIJB MIB2 INTRON,NONSENSE,UTR SNP Somatic 0 0.146 SQHIGH 10 32 42 0 37 37 C C T C C TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 142678 1 1558773 1558773 30 ALL diagnosis snv ADAM17 missense C506F NM_003183 10-PAPIJB ADAM17 MISSENSE SNP Somatic PFAM:PF00200:Disintegrin 7 0.301 SQHIGH 12 20 32 0 24 24 Cosmic_Gene C C A C C TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 6868 2 9645322 9645322 34 ALL diagnosis snv MYO7B missense E39K NM_001080527 10-PAPIJB MYO7B MISSENSE SNP Somatic 6 0.272 SQHIGH 17 35 52 0 70 70 Cosmic_Gene G G A G G TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 4648 2 128321824 128321824 71 ALL diagnosis snv SLC35F1 missense P373H NM_001029858 10-PAPIJB SLC35F1 MISSENSE SNP Somatic PFAM:PF06027:DUF914 -8 0.070 SQHIGH 8 46 54 0 48 48 Cosmic_Gene C C A C C TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 222553 6 118635306 118635306 23 ALL diagnosis snv THEMIS silent E402E NM_001164685 10-PAPIJB THEMIS SYNONYMOUS SNP Somatic PFAM:PF12736:CABIT -3 0.109 SQHIGH 10 61 71 1 59 60 Cosmic_Gene C C T C C TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 387357 6 128134580 128134580 20 ALL diagnosis snv LOC101926963 EXON E4_exon NM_001164761 10-PAPIJB PRKAR1B|LOC100505500 INTRON|UTR SNP Somatic 7 0.301 SQHIGH 18 45 63 0 61 61 C C T C C TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 5575|100505500 7 647599 647599 59 ALL diagnosis snv ARHGAP20 splice_region S168_E5splice_region NM_020809 10-PAPIJB ARHGAP20 DONOR SNP Somatic 5 0.239 SQHIGH 6 20 26 0 22 22 Cosmic_Gene C C A C C TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 57569 11 110494881 110494881 17 ALL diagnosis snv KIF5A missense Q87K NM_004984 10-PAPIJB KIF5A MISSENSE SNP Somatic 2 0.178 SQHIGH 11 44 55 0 69 69 Cosmic_Gene C C A C C TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 3798 12 57957444 57957444 42 ALL diagnosis snv PTPN21 missense S413L NM_007039 10-PAPIJB PTPN21 MISSENSE SNP Somatic -5 0.091 SQHIGH 7 30 37 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 11099 14 88946537 88946537 22 ALL diagnosis snv EFCAB3 missense K94N NM_001144933 10-PAPIJB EFCAB3 MISSENSE SNP Somatic -1 0.132 SQHIGH 8 37 45 0 44 44 Cosmic_Gene G G T G G TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 146779 17 60464752 60464752 25 ALL diagnosis snv SERPINB3 missense G319R NM_006919 10-PAPIJB SERPINB3 MISSENSE SNP Somatic -7 0.077 SQHIGH 6 25 31 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 6317 18 61323109 61323109 19 ALL diagnosis snv SMTN missense A786T NM_134270 10-PAPIJB LOC100652925|SMTN TSS-UPSTREAM|MISSENSE SNP Somatic -4 0.100 SQHIGH 4 9 13 0 16 16 Cosmic_Gene G G A G G TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 100652925|6525 22 31495070 31495070 15 ALL diagnosis snv CCNB3 missense N356K NM_033031 10-PAPIJB CCNB3 INTRON,MISSENSE SNP Somatic 6 0.272 SQHIGH 20 41 61 1 53 54 Cosmic_Gene C C A C C TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 85417 X 50052237 50052237 52 ALL diagnosis snv HES2 silent A149A NM_019089 10-PAPIJM HES2 SYNONYMOUS SNP Somatic 5 0.180 SQHIGH 12 19 31 0 38 38 G G T G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 54626 1 6479008 6479008 48 ALL diagnosis snv FAM167B missense S2F NM_032648 10-PAPIJM LCK|FAM167B TSS-UPSTREAM|MISSENSE SNP Somatic 13 0.476 SQHIGH 11 28 39 1 52 53 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 3932|84734 1 32713027 32713027 36 ALL diagnosis snv MROH7 missense A1196T NM_001039464 10-PAPIJM HEATR8|HEATR8-TTC4 MISSENSE,UTR|UTR SNP dbsnp.120:rs11807983 Somatic 15 0.625 SQHIGH 14 15 29 0 56 56 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 374977|100527960 1 55172129 55172129 77 ALL diagnosis snv MCOLN3 splice_region K509_E12splice_region NM_018298 10-PAPIJM MCOLN3 INTRON SNP Somatic 17 0.817 SQHIGH 17 18 35 0 35 35 Cosmic_Gene T T A T T TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 55283 1 85486744 85486744 62 ALL diagnosis snv NRAS missense G12A NM_002524 10-PAPIJM NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 2 0.129 SQHIGH 11 31 42 0 43 43 COSMIC:mut:565 Cosmic_Gene C C G C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 4893 1 115258747 115258747 37 ALL diagnosis snv CFH silent R27R NM_000186 10-PAPIJM CFH SYNONYMOUS SNP Somatic PFAM:PF00084:Sushi 9 0.297 SQHIGH 8 20 28 0 38 38 Cosmic_Gene A A G A A TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 3075 1 196642130 196642130 33 ALL diagnosis snv USH2A missense P2912L NM_206933 10-PAPIJM USH2A MISSENSE SNP Somatic 10 0.331 SQHIGH 12 16 28 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 7399 1 216040459 216040459 49 ALL diagnosis snv OR2T6 missense V68I NM_001005471 10-PAPIJM OR2T6 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 14 0.545 SQHIGH 18 28 46 0 56 56 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 254879 1 248551111 248551111 72 ALL diagnosis snv NXPH2 silent G132G NM_007226 10-PAPIJM NXPH2 SYNONYMOUS SNP Somatic PFAM:PF06312:Neurexophilin 13 0.476 SQHIGH 18 26 44 0 52 52 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 11249 2 139428891 139428891 71 ALL diagnosis snv COBLL1 missense E596K NM_014900 10-PAPIJM COBLL1 MISSENSE SNP Somatic 10 0.331 SQHIGH 14 26 40 0 47 47 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 22837 2 165552230 165552230 54 ALL diagnosis snv ALAS1 missense V14I NM_000688 10-PAPIJM ALAS1 MISSENSE SNP Somatic PFAM:PF09029:Preseq_ALAS 15 0.625 SQHIGH 11 27 38 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 211 3 52233297 52233297 37 ALL diagnosis snv ADH7 missense M277I NM_001166504 10-PAPIJM ADH7 MISSENSE SNP Somatic 6 0.216 SQHIGH 13 43 56 0 59 59 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 131 4 100341744 100341744 44 ALL diagnosis snv PLCXD3 missense A90D NM_001005473 10-PAPIJM PLCXD3 MISSENSE SNP Somatic 16 0.700 SQHIGH 32 24 56 0 41 41 Cosmic_Gene G G T G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 345557 5 41382471 41382471 100 ALL diagnosis snv BHMT splice_region G209_E5splice_region NM_001713 10-PAPIJM BHMT INTRON SNP Somatic 12 0.421 SQHIGH 14 13 27 0 35 35 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 635 5 78417198 78417198 62 ALL diagnosis snv GPR98 missense Q2562H NM_032119 10-PAPIJM GPR98 MISSENSE,UTR SNP Somatic 7 0.243 SQHIGH 18 32 50 0 40 40 Cosmic_Gene G G T G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 84059 5 89990259 89990259 53 ALL diagnosis snv CAMK4 missense E211D NM_001744 10-PAPIJM CAMK4 MISSENSE SNP Somatic 2 0.129 SQHIGH 11 16 27 0 32 32 Cosmic_Gene A A C A A TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 814 5 110809016 110809016 43 ALL diagnosis snv KCNIP1 silent I88I NM_001034837 10-PAPIJM KCNIP1 SYNONYMOUS SNP Somatic 6 0.216 SQHIGH 20 39 59 0 73 73 Cosmic_Gene C C A C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 30820 5 170147369 170147369 79 ALL diagnosis snv COL9A1 missense G718E NM_001851 10-PAPIJM COL9A1 MISSENSE SNP Somatic 10 0.331 SQHIGH 14 25 39 1 41 42 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 1297 6 70944603 70944603 41 ALL diagnosis snv ZC3H12D missense E2Q NM_207360 10-PAPIJM ZC3H12D MISSENSE SNP Somatic -6 0.060 SQHIGH 10 48 58 0 33 33 C C G C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 340152 6 149795676 149795676 21 ALL diagnosis snv LOC729658 EXON E5_exon NM_152410 10-PAPIJM PACRG|LOC729658 INTRON|TSS-UPSTREAM SNP Somatic 12 0.421 SQHIGH 17 28 45 1 50 51 G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 135138|729658 6 163612999 163612999 54 ALL diagnosis snv HGC6.3 missense G126R NM_001129895 10-PAPIJM HGC6.3 MISSENSE SNP Somatic 5 0.180 SQHIGH 7 22 29 0 25 25 C C G C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 100128124 6 168376957 168376957 21 ALL diagnosis snv EZH2 nonsense Q276* NM_001203247 10-PAPIJM EZH2 NONSENSE SNP Somatic 9 0.297 SQHIGH 8 23 31 0 40 40 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 2146 7 148523627 148523627 31 ALL diagnosis snv CSMD1 missense E2354K NM_033225 10-PAPIJM CSMD1 MISSENSE SNP Somatic 0 0.104 SQHIGH 10 41 51 0 38 38 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 64478 8 2954449 2954449 26 ALL diagnosis snv SLC26A7 silent Q563Q NM_052832 10-PAPIJM SLC26A7 SYNONYMOUS SNP Somatic 17 0.817 SQHIGH 20 21 41 0 33 33 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 115111 8 92401579 92401579 63 ALL diagnosis snv CSMD3 missense Q3299K NM_198123 10-PAPIJM CSMD3 MISSENSE SNP Somatic 5 0.180 SQHIGH 14 36 50 0 25 25 Cosmic_Gene G G T G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 114788 8 113267624 113267624 28 ALL diagnosis snv GLIS3 silent A425A NM_001042413 10-PAPIJM GLIS3 SYNONYMOUS SNP Somatic -3 0.076 SQHIGH 8 13 22 0 22 22 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 169792 9 4118203 4118203 29 ALL diagnosis snv PTCH1 silent V1057V NM_000264 10-PAPIJM PTCH1 SYNONYMOUS SNP Somatic 15 0.625 SQHIGH 19 22 41 0 38 38 Cosmic_Gene C C A C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 5727 9 98218693 98218693 66 ALL diagnosis snv LOC101448202 EXON E57_exon NM_000093 10-PAPIJM COL5A1 INTRON SNP Somatic 1 0.115 SQHIGH 10 19 29 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 1289 9 137711830 137711830 35 ALL diagnosis snv SLIT1 missense R949S NM_003061 10-PAPIJM SLIT1 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 2 0.129 SQHIGH 10 20 30 0 28 28 Cosmic_Gene C C G C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 6585 10 98778764 98778764 32 ALL diagnosis snv CCDC186 missense K300E NM_018017 10-PAPIJM CCDC186 MISSENSE SNP Somatic -9 0.046 SQHIGH 4 28 32 0 45 45 Cosmic_Gene T T C T T TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 55088 10 115905511 115905511 16 ALL diagnosis snv LRP4 missense G1834R NM_002334 10-PAPIJM LOC100507401|LRP4 INTRON|MISSENSE SNP dbsnp.134:rs142462686 Somatic 12 0.421 SQHIGH 11 19 30 0 56 56 Cosmic_Gene C C G C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 100507401|4038 11 46880752 46880752 57 ALL diagnosis snv MTNR1B missense R72W NM_005959 10-PAPIJM MTNR1B MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx -4 0.070 SQHIGH 9 23 32 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 4544 11 92703105 92703105 33 ALL diagnosis snv SIX6 silent S52S NM_007374 10-PAPIJM SIX6 SYNONYMOUS SNP Somatic 6 0.216 SQHIGH 7 27 34 0 23 23 G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 4990 14 60976272 60976272 17 ALL diagnosis snv DCAF13P3 EXON E10_exon NM_007347 10-PAPIJM AP4E1|LOC100132724 INTRON|UTR SNP Somatic 9 0.297 SQHIGH 13 24 37 0 43 43 C C A C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 23431|100132724 15 51238101 51238101 49 ALL diagnosis snv UACA silent I664I NM_018003 10-PAPIJM UACA SYNONYMOUS SNP Somatic 7 0.243 SQHIGH 20 34 54 0 44 44 Cosmic_Gene A A G A A TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 55075 15 70961031 70961031 60 ALL diagnosis snv LMAN1L silent I160I NM_021819 10-PAPIJM LMAN1L SYNONYMOUS SNP Somatic PFAM:PF00139:Lectin_legB 11 0.371 SQHIGH 12 21 33 1 50 51 C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 79748 15 75109014 75109014 45 ALL diagnosis snv RPGRIP1L missense D821G NM_015272 10-PAPIJM RPGRIP1L MISSENSE SNP Somatic -7 0.055 SQHIGH 7 20 27 0 22 22 Cosmic_Gene T T C T T TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 23322 16 53679758 53679758 20 ALL diagnosis snv FAM134C nonsense W148* NM_178126 10-PAPIJM FAM134C NONSENSE,UTR SNP Somatic PFAM:PF02453:Reticulon 17 0.817 SQHIGH 21 21 42 0 65 65 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 162427 17 40738843 40738843 103 ALL diagnosis snv TCEB3B missense G48E NM_016427 10-PAPIJM TCEB3B|KATNAL2 MISSENSE|INTRON SNP Somatic 10 0.331 SQHIGH 10 29 39 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 51224|83473 18 44561493 44561493 31 ALL diagnosis snv CDC37 missense A210V NM_007065 10-PAPIJM CDC37 MISSENSE SNP Somatic PFAM:PF08565:CDC37_M 14 0.545 SQHIGH 24 30 54 1 60 61 G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 11140 19 10505794 10505794 82 ALL diagnosis snv SNTA1 silent Y360Y NM_003098 10-PAPIJM SNTA1 SYNONYMOUS SNP dbsnp.134:rs141844806 Somatic PFAM:PF00638:Ran_BP1 14 0.545 SQHIGH 21 23 44 0 44 44 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 6640 20 31998098 31998098 77 ALL diagnosis snv SYNJ1 missense P1444S NM_003895 10-PAPIJM SYNJ1 UTR3,MISSENSE SNP Somatic 0 0.104 SQHIGH 13 44 57 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 8867 21 34003814 34003814 28 ALL diagnosis snv SEPT5-GP1BB EXON E2_exon NM_002688 10-PAPIJM SEPT5-GP1BB|SEPT5 TSS-UPSTREAM,UTR|INTRON,TSS-UPSTREAM SNP Somatic 8 0.268 SQHIGH 13 32 45 1 37 38 Cosmic_Gene G G A G G TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 100526833|5413 22 19705355 19705355 30 ALL diagnosis snv EPAS1 silent L866L NM_001430 10-PAPIKG EPAS1 SYNONYMOUS SNP Somatic PFAM:PF08778:HIF-1a_CTAD 10 0.278 SQHIGH 12 17 29 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAPIKG-09A-01D TARGET-10-PAPIKG-14A-01D 2034 2 46611784 46611784 49 ALL diagnosis snv ZFYVE20 silent R127R NM_022340 10-PAPIKG ZFYVE20 SYNONYMOUS SNP Somatic 17 0.796 SQHIGH 22 26 48 0 61 61 Cosmic_Gene C C T C C TARGET-10-PAPIKG-09A-01D TARGET-10-PAPIKG-14A-01D 64145 3 15127377 15127377 93 ALL diagnosis snv ADCY2 nonsense R470* NM_020546 10-PAPIKG ADCY2 NONSENSE SNP Somatic 16 0.664 SQHIGH 13 20 33 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPIKG-09A-01D TARGET-10-PAPIKG-14A-01D 108 5 7709330 7709330 49 ALL diagnosis snv CCT5 missense D492N NM_012073 10-PAPIKG CCT5 MISSENSE SNP Somatic PFAM:PF00118:Cpn60_TCP1 15 0.580 SQHIGH 12 16 28 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPIKG-09A-01D TARGET-10-PAPIKG-14A-01D 22948 5 10263402 10263402 52 ALL diagnosis snv FYB silent A49A NM_001465 10-PAPIKG FYB SYNONYMOUS SNP Somatic 14 0.499 SQHIGH 15 19 34 1 52 53 Cosmic_Gene T T C T T TARGET-10-PAPIKG-09A-01D TARGET-10-PAPIKG-14A-01D 2533 5 39202916 39202916 61 ALL diagnosis snv HIVEP2 silent T1195T NM_006734 10-PAPIKG HIVEP2 SYNONYMOUS SNP Somatic PFAM:PF09770:PAT1 14 0.499 SQHIGH 16 28 44 0 75 75 Cosmic_Gene T T C T T TARGET-10-PAPIKG-09A-01D TARGET-10-PAPIKG-14A-01D 3097 6 143092291 143092291 78 ALL diagnosis snv CSMD3 splice G344_E7splice NM_198123 10-PAPIKG CSMD3 DISRUPT,INTRON SNP Somatic 15 0.580 SQHIGH 20 20 40 0 38 38 Cosmic_Gene C C T C C TARGET-10-PAPIKG-09A-01D TARGET-10-PAPIKG-14A-01D 114788 8 113988378 113988378 72 ALL diagnosis snv FUK missense G256R NM_145059 10-PAPIKG FUK MISSENSE SNP Somatic PFAM:PF07959:Fucokinase 17 0.796 SQHIGH 15 22 37 1 46 47 Cosmic_Gene G G A G G TARGET-10-PAPIKG-09A-01D TARGET-10-PAPIKG-14A-01D 197258 16 70502854 70502854 51 ALL diagnosis snv MYO5B missense R615H NM_001080467 10-PAPIKG MYO5B MISSENSE SNP Somatic 20 1.000 SQHIGH 20 18 38 0 38 38 Cosmic_Gene C C T C C TARGET-10-PAPIKG-09A-01D TARGET-10-PAPIKG-14A-01D 4645 18 47463676 47463676 75 ALL diagnosis snv GUK1 silent T162T NM_001159390 10-PAPIRZ GJC2|GUK1 TSS-UPSTREAM|SYNONYMOUS SNP dbsnp.134:rs141255130 Somatic -7 0.056 SQHIGH 4 20 24 0 40 40 C C T C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 57165|2987 1 228335348 228335348 18 ALL diagnosis snv KDR missense Y459H NM_002253 10-PAPIRZ KDR MISSENSE SNP Somatic 6 0.202 SQHIGH 19 50 69 0 68 68 Cosmic_Gene A A G A A TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 3791 4 55973941 55973941 63 ALL diagnosis snv TMEM151B missense R255C NM_001137560 10-PAPIRZ TMEM151B MISSENSE SNP Somatic -9 0.048 SQHIGH 13 15 28 0 17 17 C C T C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 441151 6 44243326 44243326 33 ALL diagnosis snv ZFAT silent P97P NM_020863 10-PAPIRZ ZFAT SYNONYMOUS SNP Somatic -1 0.095 SQHIGH 8 41 49 2 53 55 Cosmic_Gene C C T C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 57623 8 135649861 135649861 15 ALL diagnosis snv OPLAH missense G145E NM_017570 10-PAPIRZ OPLAH MISSENSE SNP Somatic PFAM:PF05378:Hydant_A_N 10 0.321 SQHIGH 11 20 31 0 37 37 C C T C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 26873 8 145113912 145113912 43 ALL diagnosis snv TMEM2 silent P1252P NM_013390 10-PAPIRZ TMEM2 SYNONYMOUS SNP Somatic 4 0.156 SQHIGH 9 31 40 0 45 45 COSMIC:mut:80658 Cosmic_Gene C C T C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 23670 9 74305103 74305103 32 ALL diagnosis snv CFAP46 missense A2135T NM_001200049 10-PAPIRZ CFAP46 MISSENSE SNP Somatic 9 0.285 SQHIGH 7 17 24 0 28 28 C C T C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 54777 10 134659596 134659596 26 ALL diagnosis snv TRIM34 silent N8N NM_021616 10-PAPIRZ TRIM34|TRIM6-TRIM34 SYNONYMOUS|SYNONYMOUS SNP Somatic 3 0.141 SQHIGH 13 63 76 0 71 71 Cosmic_Gene C C T C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 53840|445372 11 5653585 5653585 40 ALL diagnosis snv DCP1B silent L561L NM_152640 10-PAPIRZ DCP1B SYNONYMOUS SNP Somatic 6 0.202 SQHIGH 10 32 42 1 50 51 Cosmic_Gene G G A G G TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 196513 12 2058342 2058342 29 ALL diagnosis snv FAM186A missense A1894P NM_001145475 10-PAPIRZ FAM186A MISSENSE SNP Somatic -6 0.061 SQHIGH 5 16 21 0 28 28 C C G C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 121006 12 50744935 50744935 20 ALL diagnosis snv ATF7 silent N355N NM_001130060 10-PAPIRZ ATF7 SYNONYMOUS SNP Somatic PFAM:PF00170:bZIP_1 10 0.321 SQHIGH 13 32 45 0 51 51 Cosmic_Gene A A G A A TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 11016 12 53917166 53917166 47 ALL diagnosis snv LRP1 missense R3209H NM_002332 10-PAPIRZ LRP1 MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b 10 0.321 SQHIGH 10 29 39 1 58 59 Cosmic_Gene G G A G G TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 4035 12 57592403 57592403 35 ALL diagnosis snv STAB2 missense P2416L NM_017564 10-PAPIRZ STAB2 MISSENSE SNP Somatic PFAM:PF02469:Fasciclin 4 0.156 SQHIGH 10 36 46 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 55576 12 104153050 104153050 32 ALL diagnosis snv HECTD4 missense P2930L NM_001109662 10-PAPIRZ HECTD4 MISSENSE SNP Somatic 15 0.647 SQHIGH 13 21 34 1 54 55 Cosmic_Gene G G A G G TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 283450 12 112630465 112630465 52 ALL diagnosis snv MYCBP2 missense K3949N NM_015057 10-PAPIRZ MYCBP2 MISSENSE SNP Somatic 8 0.254 SQHIGH 9 21 30 0 38 38 Cosmic_Gene T T G T T TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 23077 13 77644823 77644823 35 ALL diagnosis snv EMC6 splice E1_splice NM_001014764 10-PAPIRZ P2RX5-TAX1BP3|TAX1BP3|TMEM93 INTRON|TSS-UPSTREAM|DISRUPT,INTRON SNP Somatic 6 0.202 SQHIGH 18 42 60 0 32 32 G G T G G TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 100533970|30851|83460 17 3572307 3572307 38 ALL diagnosis snv ALDOC silent F94F NM_005165 10-PAPIRZ ALDOC|PIGS SYNONYMOUS|TSS-UPSTREAM SNP Somatic -8 0.052 SQHIGH 8 49 57 0 55 55 Cosmic_Gene G G A G G TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 230|94005 17 26902183 26902183 25 ALL diagnosis snv CLUL1 splice_region S36_E2splice_region NM_014410 10-PAPIRZ CLUL1 DONOR SNP Somatic -9 0.048 SQHIGH 4 29 34 0 40 40 Cosmic_Gene G G A G G TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 27098 18 618111 618111 14 ALL diagnosis snv GRIPAP1 missense R482H NM_020137 10-PAPIRZ GRIPAP1 MISSENSE SNP Somatic 5 0.173 SQHIGH 17 48 65 0 67 67 Cosmic_Gene C C T C C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 56850 X 48839680 48839680 58 ALL diagnosis mnv CLIC6 missense R373_R374>SG NM_053277 10-PAPIRZ CLIC6 MISSENSE Sub Somatic -7 0.287 SQHIGH 4 24 28 0 39 39 Cosmic_Gene AC AC CG AC AC TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 54102 21 36042806 36042807 16 ALL diagnosis snv LAMC2 missense R41W NM_005562 10-PAPISG LAMC2 MISSENSE SNP Somatic 17 0.881 SQHIGH 22 15 37 0 53 53 Cosmic_Gene C C T C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 3918 1 183177057 183177057 108 ALL diagnosis snv LRP1B missense V2133F NM_018557 10-PAPISG LRP1B MISSENSE SNP Somatic -39 0.000 4 21 25 0 30 30 Cosmic_Gene C C A C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 53353 2 141459320 141459320 14 ALL diagnosis snv ARMC9 missense L510I NM_025139 10-PAPISG ARMC9 MISSENSE SNP Somatic PFAM:PF00514:Arm 8 0.293 SQHIGH 24 43 67 0 78 78 Cosmic_Gene C C A C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 80210 2 232143148 232143148 92 ALL diagnosis snv ADAMTS9-AS1 EXON E28_exon NM_182920 10-PAPISG ADAMTS9-AS1|ADAMTS9 UTR|INTRON SNP Somatic -1 0.104 SQHIGH 10 24 34 1 24 25 Cosmic_Gene C C T C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 100507082|56999 3 64574612 64574612 19 ALL diagnosis snv PPM1L silent S213S NM_139245 10-PAPISG PPM1L SYNONYMOUS SNP dbsnp.132:rs116134607 Somatic PFAM:PF00481:PP2C 13 0.561 SQHIGH 20 18 38 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 151742 3 160783255 160783255 75 ALL diagnosis snv SLC7A11 silent A345A NM_014331 10-PAPISG SLC7A11 SYNONYMOUS SNP Somatic PFAM:PF01490:Aa_trans 0 0.115 SQHIGH 23 24 47 1 41 42 Cosmic_Gene C C T C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 23657 4 139103532 139103532 67 ALL diagnosis snv CPXM2 silent G518G NM_198148 10-PAPISG CPXM2 SYNONYMOUS SNP Somatic 11 0.435 SQHIGH 17 30 47 1 63 64 Cosmic_Gene G G A G G TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 119587 10 125521611 125521611 61 ALL diagnosis snv TRIM3 missense S558N NM_006458 10-PAPISG TRIM3 MISSENSE SNP Somatic PFAM:PF00400:WD40 8 0.293 SQHIGH 6 17 23 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 10612 11 6472529 6472529 27 ALL diagnosis snv VWCE missense G836V NM_152718 10-PAPISG VWCE MISSENSE SNP Somatic -9 0.048 SQHIGH 5 28 33 0 59 59 Cosmic_Gene C C A C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 220001 11 61026508 61026508 23 ALL diagnosis snv AKAP3 missense R486H NM_006422 10-PAPISG AKAP3 MISSENSE SNP Somatic PFAM:PF05716:AKAP_110 11 0.435 SQHIGH 18 13 31 0 48 49 Cosmic_Gene C C T C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 10566 12 4736611 4736611 91 ALL diagnosis snv DDX23 missense R54Q NM_004818 10-PAPISG DDX23 MISSENSE SNP Somatic 3 0.159 SQHIGH 16 14 30 1 42 43 Cosmic_Gene C C T C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 9416 12 49239405 49239405 64 ALL diagnosis snv LIG3 missense R740H NM_013975 10-PAPISG LIG3 MISSENSE SNP Somatic 5 0.200 SQHIGH 28 22 50 2 62 64 Cosmic_Gene G G A G G TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 3980 17 33326431 33326431 102 ALL diagnosis snv DIAPH2 missense A870V NM_007309 10-PAPISG DIAPH2 MISSENSE SNP Somatic PFAM:PF02181:FH2 14 0.634 SQHIGH 18 24 42 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 1730 X 96396683 96396683 47 ALL diagnosis snv ALG13 missense R318H NM_001099922 10-PAPISG ALG13 MISSENSE,UTR SNP Somatic PFAM:PF02338:OTU 13 0.561 SQHIGH 30 22 52 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 79868 X 110956473 110956473 87 ALL relapse snv HRNR missense R553K NM_001009931 10-PAPISG HRNR MISSENSE SNP Somatic 2 0.160 SQHIGH 16 42 58 1 75 76 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 388697 1 152192447 152192447 54 ALL relapse snv LMNA missense A516V NM_170707 10-PAPISG LMNA MISSENSE SNP Somatic PFAM:PF00932:IF_tail 11 0.466 SQHIGH 42 37 79 0 78 78 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 4000 1 156106962 156106962 158 ALL relapse snv LAMC2 missense R41W NM_005562 10-PAPISG LAMC2 MISSENSE SNP Somatic 12 0.526 SQHIGH 24 31 55 0 53 53 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 3918 1 183177057 183177057 84 ALL relapse snv SERTAD2 missense D244N NM_014755 10-PAPISG SERTAD2 MISSENSE SNP Somatic 10 0.411 SQHIGH 32 25 57 0 68 68 C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 9792 2 64863276 64863276 138 ALL relapse snv ARMC9 missense L510I NM_025139 10-PAPISG ARMC9 MISSENSE SNP Somatic PFAM:PF00514:Arm 14 0.669 SQHIGH 24 23 47 0 78 78 Cosmic_Gene C C A C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 80210 2 232143148 232143148 123 ALL relapse snv ADAMTS9-AS1 EXON E28_exon NM_182920 10-PAPISG ADAMTS9-AS1|ADAMTS9 UTR|INTRON SNP Somatic -1 0.118 SQHIGH 18 15 33 1 24 25 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 100507082|56999 3 64574612 64574612 45 ALL relapse snv PPM1L silent S213S NM_139245 10-PAPISG PPM1L SYNONYMOUS SNP dbsnp.132:rs116134607 Somatic PFAM:PF00481:PP2C 12 0.526 SQHIGH 12 18 30 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 151742 3 160783255 160783255 49 ALL relapse snv PROM1 missense V781I NM_006017 10-PAPISG PROM1 MISSENSE SNP Somatic PFAM:PF05478:Prominin 12 0.526 SQHIGH 16 12 28 0 23 23 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 8842 4 15985918 15985918 54 ALL relapse snv SLC7A11 silent A345A NM_014331 10-PAPISG SLC7A11 SYNONYMOUS SNP Somatic PFAM:PF01490:Aa_trans 0 0.131 SQHIGH 17 15 32 1 41 42 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 23657 4 139103532 139103532 65 ALL relapse snv SCUBE3 missense P821L NM_152753 10-PAPISG SCUBE3 MISSENSE SNP Somatic 8 0.319 SQHIGH 31 45 76 0 87 87 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 222663 6 35213065 35213065 121 ALL relapse snv CPXM2 silent G518G NM_198148 10-PAPISG CPXM2 SYNONYMOUS SNP Somatic 15 0.744 SQHIGH 27 30 57 1 63 64 Cosmic_Gene G G A G G TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 119587 10 125521611 125521611 94 ALL relapse snv AKAP3 missense R486H NM_006422 10-PAPISG AKAP3 MISSENSE SNP Somatic PFAM:PF05716:AKAP_110 11 0.466 SQHIGH 25 18 43 0 48 49 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 10566 12 4736611 4736611 104 ALL relapse snv DDX23 missense R54Q NM_004818 10-PAPISG DDX23 MISSENSE SNP Somatic 2 0.160 SQHIGH 23 29 52 1 42 43 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 9416 12 49239405 49239405 61 ALL relapse snv DNAH9 silent P2175P NM_001372 10-PAPISG DNAH9 SYNONYMOUS SNP Somatic PFAM:PF07728:AAA_5 6 0.251 SQHIGH 35 28 63 0 63 63 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 1770 17 11650998 11650998 134 ALL relapse snv KIAA0100 missense S643T NM_014680 10-PAPISG KIAA0100 MISSENSE SNP Somatic PFAM:PF10344:Fmp27 6 0.251 SQHIGH 30 37 67 0 64 64 Cosmic_Gene C C G C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 9703 17 26964032 26964032 105 ALL relapse snv LIG3 missense R740H NM_013975 10-PAPISG LIG3 MISSENSE SNP Somatic 3 0.177 SQHIGH 25 35 60 2 62 64 Cosmic_Gene G G A G G TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 3980 17 33326431 33326431 71 ALL relapse snv NPHS1 silent S191S NM_004646 10-PAPISG NPHS1 SYNONYMOUS SNP Somatic PFAM:PF00047:ig -7 0.068 SQHIGH 6 37 43 0 62 62 Cosmic_Gene G G A G G TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 4868 19 36341301 36341301 24 ALL relapse snv CEACAM3 missense S5T NM_001815 10-PAPISG CEACAM3 MISSENSE SNP Somatic -2 0.106 SQHIGH 4 19 23 0 31 31 Cosmic_Gene T T A T T TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 1084 19 42300622 42300622 16 ALL relapse snv DIAPH2 missense A870V NM_007309 10-PAPISG DIAPH2 MISSENSE SNP Somatic PFAM:PF02181:FH2 9 0.362 SQHIGH 7 7 14 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 1730 X 96396683 96396683 38 ALL relapse snv ALG13 missense R318H NM_001099922 10-PAPISG ALG13 MISSENSE,UTR SNP Somatic PFAM:PF02338:OTU 16 0.804 SQHIGH 17 19 36 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 79868 X 110956473 110956473 60 ALL relapse snv CRNN missense S186Y NM_016190 10-PAPJHB CRNN MISSENSE SNP Somatic 11 0.354 SQHIGH 21 22 43 1 51 52 Cosmic_Gene G G T G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 49860 1 152383001 152383001 76 ALL relapse snv IGFN1 missense E2247A NM_001164586 10-PAPJHB IGFN1 MISSENSE SNP Somatic -10 0.052 SQHIGH 16 50 66 0 71 71 Cosmic_Gene A A C A A TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 91156 1 201180761 201180761 55 ALL relapse snv LEFTY2 missense R72C NM_003240 10-PAPJHB LEFTY2 MISSENSE SNP dbsnp.134:rs141680926 Somatic 12 0.403 SQHIGH 17 24 41 0 33 33 G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 7044 1 226128627 226128627 52 ALL relapse snv WDR35 missense R700C NM_001006657 10-PAPJHB WDR35 MISSENSE SNP dbsnp.134:rs140196566 Somatic 14 0.534 SQHIGH 9 30 39 0 27 27 Cosmic_Gene G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 57539 2 20137706 20137706 22 ALL relapse snv TSGA10 missense R158H NM_025244 10-PAPJHB TSGA10 MISSENSE SNP Somatic PFAM:PF09726:Macoilin 15 0.623 SQHIGH 15 14 29 0 28 28 Cosmic_Gene C C T C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 80705 2 99720568 99720568 55 ALL relapse snv BTC missense R146Q NM_001729 10-PAPJHB BTC MISSENSE SNP dbsnp.134:rs144483811 Somatic 1 0.124 SQHIGH 13 26 39 0 26 26 Cosmic_Gene C C T C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 685 4 75673351 75673351 33 ALL relapse snv P4HA2 nonsense R397* NM_004199 10-PAPJHB P4HA2 NONSENSE SNP Somatic PFAM:PF03171:2OG-FeII_Oxy 4 0.163 SQHIGH 14 67 81 0 76 76 G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 8974 5 131539503 131539503 43 ALL relapse snv ATP10B missense R977C NM_025153 10-PAPJHB ATP10B MISSENSE SNP Somatic 12 0.403 SQHIGH 14 16 30 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 23120 5 160034003 160034003 66 ALL relapse snv TENM2 missense R1847Q NM_001122679 10-PAPJHB TENM2 MISSENSE SNP Somatic 7 0.227 SQHIGH 20 43 63 0 52 52 Cosmic_Gene G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 57451 5 167671471 167671471 59 ALL relapse snv THBS2 missense V287M NM_003247 10-PAPJHB THBS2 MISSENSE SNP dbsnp.134:rs141420844 Somatic 18 0.879 SQHIGH 12 11 23 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 7058 6 169641889 169641889 50 ALL relapse snv LRRCC1 missense D20Y NM_033402 10-PAPJHB LRRCC1 MISSENSE SNP Somatic 9 0.281 SQHIGH 24 22 46 0 31 31 G G T G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 85444 8 86019588 86019588 68 ALL relapse snv SLIT1 missense G1309S NM_003061 10-PAPJHB SLIT1 MISSENSE SNP Somatic 14 0.534 SQHIGH 25 25 50 0 66 66 Cosmic_Gene C C T C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 6585 10 98762690 98762690 111 ALL relapse snv PAMR1 splice_region R165_E5splice_region NM_015430 10-PAPJHB PAMR1 ACCEPTOR SNP Somatic 3 0.149 SQHIGH 29 46 75 0 51 51 Cosmic_Gene G G T G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 25891 11 35492371 35492371 77 ALL relapse snv VWF missense R2507W NM_000552 10-PAPJHB VWF MISSENSE SNP Somatic 12 0.403 SQHIGH 23 18 41 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 7450 12 6080794 6080794 78 ALL relapse snv PPFIA2 missense R1193C NM_003625 10-PAPJHB PPFIA2 MISSENSE,UTR SNP Somatic 14 0.534 SQHIGH 18 10 28 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 8499 12 81657148 81657148 75 ALL relapse snv ANO4 missense R728S NM_178826 10-PAPJHB ANO4 MISSENSE SNP Somatic PFAM:PF04547:Anoctamin 13 0.460 SQHIGH 10 15 25 0 32 32 Cosmic_Gene G G T G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 121601 12 101504321 101504321 41 ALL relapse snv LOC100130238 EXON E2_exon NM_001122636 10-PAPJHB LOC100130238|GALNT9 UTR|INTRON SNP Somatic -9 0.056 SQHIGH 5 15 20 0 18 18 T T C T T TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 100130238|50614 12 132854258 132854258 15 ALL relapse snv GPR176 silent S365S NM_007223 10-PAPJHB GPR176 SYNONYMOUS SNP Somatic -34 0.003 3 25 28 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 11245 15 40093786 40093786 14 ALL relapse snv ADAMTSL3 missense R938Q NM_207517 10-PAPJHB ADAMTSL3 MISSENSE SNP Somatic PFAM:PF00047:ig 11 0.354 SQHIGH 13 29 42 0 46 46 Cosmic_Gene G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 57188 15 84651193 84651193 47 ALL relapse snv CLDN9 missense A171V NM_020982 10-PAPJHB CLDN9 MISSENSE SNP Somatic 1 0.124 SQHIGH 10 10 20 0 16 16 C C T C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 9080 16 3063875 3063875 31 ALL relapse snv NMRAL1 missense V208G NM_020677 10-PAPJHB NMRAL1 MISSENSE SNP Somatic PFAM:PF05368:NmrA 13 0.460 SQHIGH 18 22 40 0 36 36 Cosmic_Gene A A C A A TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 57407 16 4513758 4513758 60 ALL relapse snv ZNF319 missense E164K NM_020807 10-PAPJHB C16orf57|ZNF319 TSS-UPSTREAM|MISSENSE SNP Somatic 5 0.179 SQHIGH 21 21 42 0 48 48 C C T C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 79650|57567 16 58031680 58031680 85 ALL relapse snv MYO15A missense T2243M NM_016239 10-PAPJHB MYO15A MISSENSE SNP Somatic -2 0.094 SQHIGH 23 13 36 0 44 44 Cosmic_Gene C C T C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 51168 17 18051846 18051846 105 ALL relapse snv KRTAP4-9 missense R118S NM_001146041 10-PAPJHB KRTAP4-9 MISSENSE SNP Somatic -10 0.052 SQHIGH 5 19 24 0 16 16 G G C G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 100132386 17 39261994 39261994 12 ALL relapse snv ONECUT2 missense R314W NM_004852 10-PAPJHB ONECUT2 MISSENSE SNP Somatic -6 0.069 SQHIGH 8 36 44 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 9480 18 55103888 55103888 21 ALL relapse snv TBC1D17 missense A246P NM_024682 10-PAPJHB AKT1S1|TBC1D17 TSS-UPSTREAM|MISSENSE SNP Somatic -3 0.087 SQHIGH 6 20 26 1 35 36 G G C G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 84335|79735 19 50385595 50385595 17 ALL relapse snv NLRP5 silent V282V NM_153447 10-PAPJHB NLRP5 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 15 0.623 SQHIGH 20 22 42 0 32 32 Cosmic_Gene G G T G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 126206 19 56538445 56538445 61 ALL relapse snv SS18L1 missense E251Q NM_198935 10-PAPJHB SS18L1 MISSENSE SNP Somatic 0 0.113 SQHIGH 4 13 17 0 30 30 Cosmic_Gene G G C G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 26039 20 60739230 60739230 19 ALL relapse snv ARHGAP6 missense R879W NM_013427 10-PAPJHB ARHGAP6 MISSENSE SNP Somatic 11 0.354 SQHIGH 23 18 41 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 395 X 11157273 11157273 71 ALL relapse snv GRPR silent K69K NM_005314 10-PAPJHB GRPR SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 3 0.149 SQHIGH 26 54 80 0 52 52 Cosmic_Gene G G A G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 2925 X 16142283 16142283 65 ALL relapse snv MED14 missense K613M NM_004229 10-PAPJHB MED14 MISSENSE SNP Somatic 10 0.315 SQHIGH 15 29 44 0 33 33 Cosmic_Gene T T A T T TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 9282 X 40551967 40551967 42 ALL relapse snv KIAA2022 missense Q198H NM_001008537 10-PAPJHB KIAA2022 MISSENSE SNP Somatic 9 0.281 SQHIGH 14 32 46 0 46 46 Cosmic_Gene C C A C C TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 340533 X 73963798 73963798 47 ALL relapse snv COL4A6 missense P690T NM_001847 10-PAPJHB COL4A6 MISSENSE SNP Somatic 12 0.403 SQHIGH 20 27 47 0 34 34 Cosmic_Gene G G T G G TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 1288 X 107423811 107423811 57 ALL diagnosis snv CRNN missense S186Y NM_016190 10-PAPJHB CRNN MISSENSE SNP Somatic 11 0.380 SQHIGH 20 28 48 1 51 52 Cosmic_Gene G G T G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 49860 1 152383001 152383001 64 ALL diagnosis snv LEFTY2 missense R72C NM_003240 10-PAPJHB LEFTY2 MISSENSE SNP dbsnp.134:rs141680926 Somatic 14 0.551 SQHIGH 12 19 31 0 33 33 G G A G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 7044 1 226128627 226128627 44 ALL diagnosis snv TSGA10 missense R158H NM_025244 10-PAPJHB TSGA10 MISSENSE SNP Somatic PFAM:PF09726:Macoilin 11 0.380 SQHIGH 11 22 33 0 28 28 Cosmic_Gene C C T C C TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 80705 2 99720568 99720568 33 ALL diagnosis snv ATP10B missense R977C NM_025153 10-PAPJHB ATP10B MISSENSE SNP Somatic 6 0.232 SQHIGH 12 33 45 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 23120 5 160034003 160034003 40 ALL diagnosis snv THBS2 missense V287M NM_003247 10-PAPJHB THBS2 MISSENSE SNP dbsnp.134:rs141420844 Somatic 18 0.882 SQHIGH 14 19 33 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 7058 6 169641889 169641889 43 ALL diagnosis snv LRRCC1 missense D20Y NM_033402 10-PAPJHB LRRCC1 MISSENSE SNP Somatic -10 0.057 SQHIGH 6 31 37 0 31 31 G G T G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 85444 8 86019588 86019588 17 ALL diagnosis snv SLIT1 missense G1309S NM_003061 10-PAPJHB SLIT1 MISSENSE SNP Somatic 5 0.207 SQHIGH 15 48 63 0 66 66 Cosmic_Gene C C T C C TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 6585 10 98762690 98762690 51 ALL diagnosis snv MRGPRE missense A289V NM_001039165 10-PAPJHB MRGPRE MISSENSE SNP Somatic -3 0.100 SQHIGH 5 14 19 0 16 16 Cosmic_Gene G G A G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 116534 11 3249164 3249164 14 ALL diagnosis snv PAMR1 splice_region R165_E5splice_region NM_015430 10-PAPJHB PAMR1 ACCEPTOR SNP Somatic 4 0.190 SQHIGH 20 34 54 0 51 51 Cosmic_Gene G G T G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 25891 11 35492371 35492371 67 ALL diagnosis snv VWF missense R2507W NM_000552 10-PAPJHB VWF MISSENSE SNP Somatic 5 0.207 SQHIGH 17 33 50 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 7450 12 6080794 6080794 44 ALL diagnosis snv PPFIA2 missense R1193C NM_003625 10-PAPJHB PPFIA2 MISSENSE,UTR SNP Somatic 13 0.481 SQHIGH 10 14 24 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 8499 12 81657148 81657148 41 ALL diagnosis snv ANO4 missense R728S NM_178826 10-PAPJHB ANO4 MISSENSE SNP Somatic PFAM:PF04547:Anoctamin 10 0.341 SQHIGH 9 23 32 0 32 32 Cosmic_Gene G G T G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 121601 12 101504321 101504321 30 ALL diagnosis snv CLDN9 missense A171V NM_020982 10-PAPJHB CLDN9 MISSENSE SNP Somatic 0 0.133 SQHIGH 7 12 19 0 16 16 C C T C C TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 9080 16 3063875 3063875 21 ALL diagnosis snv NMRAL1 missense V208G NM_020677 10-PAPJHB NMRAL1 MISSENSE SNP Somatic PFAM:PF05368:NmrA 12 0.425 SQHIGH 17 26 43 0 36 36 Cosmic_Gene A A C A A TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 57407 16 4513758 4513758 53 ALL diagnosis snv ZNF319 missense E164K NM_020807 10-PAPJHB C16orf57|ZNF319 TSS-UPSTREAM|MISSENSE SNP Somatic 5 0.207 SQHIGH 13 23 36 0 48 48 C C T C C TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 79650|57567 16 58031680 58031680 54 ALL diagnosis snv MYO15A missense T2243M NM_016239 10-PAPJHB MYO15A MISSENSE SNP Somatic -2 0.110 SQHIGH 22 18 40 0 44 44 Cosmic_Gene C C T C C TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 51168 17 18051846 18051846 89 ALL diagnosis snv NLRP5 silent V282V NM_153447 10-PAPJHB NLRP5 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 15 0.638 SQHIGH 25 19 44 0 32 32 Cosmic_Gene G G T G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 126206 19 56538445 56538445 77 ALL diagnosis snv ARHGAP6 missense R879W NM_013427 10-PAPJHB ARHGAP6 MISSENSE SNP Somatic 9 0.308 SQHIGH 16 31 47 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 395 X 11157273 11157273 40 ALL diagnosis snv GRPR silent K69K NM_005314 10-PAPJHB GRPR SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 15 0.638 SQHIGH 39 40 79 0 52 52 Cosmic_Gene G G A G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 2925 X 16142283 16142283 108 ALL diagnosis snv MED14 missense K613M NM_004229 10-PAPJHB MED14 MISSENSE SNP Somatic 5 0.207 SQHIGH 19 34 53 0 33 33 Cosmic_Gene T T A T T TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 9282 X 40551967 40551967 47 ALL diagnosis snv KIAA2022 missense Q198H NM_001008537 10-PAPJHB KIAA2022 MISSENSE SNP Somatic 5 0.207 SQHIGH 15 38 53 0 46 46 Cosmic_Gene C C A C C TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 340533 X 73963798 73963798 45 ALL diagnosis snv COL4A6 missense P690T NM_001847 10-PAPJHB COL4A6 MISSENSE SNP Somatic 9 0.308 SQHIGH 23 32 55 0 34 34 Cosmic_Gene G G T G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 1288 X 107423811 107423811 58 ALL diagnosis snv SSR4 missense V70I NM_006280 10-PAPJHB IDH3G|SSR4 TSS-UPSTREAM|MISSENSE,UTR SNP dbsnp.134:rs149873632 Somatic PFAM:PF05404:TRAP-delta -1 0.122 SQHIGH 13 83 96 2 63 65 G G A G G TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 3421|6748 X 153062934 153062934 17 ALL relapse snv CCDC85A missense E152K NM_001080433 10-PAPJHR CCDC85A MISSENSE SNP Somatic PFAM:PF10226:DUF2216 14 0.542 SQHIGH 25 32 57 0 49 49 Cosmic_Gene G G A G G TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 114800 2 56419789 56419789 81 ALL relapse snv LANCL1-AS1 EXON E3_exon NM_006055 10-PAPJHR LANCL1 INTRON SNP Somatic 4 0.171 SQHIGH 7 31 38 0 47 47 T T C T T TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 10314 2 211333757 211333757 26 ALL relapse snv FN1 splice_region N139_E4splice_region NM_212482 10-PAPJHR FN1 ACCEPTOR SNP Somatic 14 0.542 SQHIGH 11 23 34 0 36 36 Cosmic_Gene T T A T T TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 2335 2 216296691 216296691 39 ALL relapse snv PTPRG missense E604K NM_002841 10-PAPJHR PTPRG MISSENSE SNP Somatic 8 0.262 SQHIGH 21 36 57 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 5793 3 62189279 62189279 53 ALL relapse snv ZBTB11-AS1 EXON E1_exon NM_014415 10-PAPJHR ZBTB11|LOC100009676 INTRON|UTR SNP Somatic -3 0.087 SQHIGH 10 20 30 1 25 26 Cosmic_Gene C C T C C TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 27107|100009676 3 101395365 101395365 23 ALL relapse snv MYLK silent N1040N NM_053025 10-PAPJHR MYLK SYNONYMOUS SNP Somatic -3 0.087 SQHIGH 5 27 32 0 28 28 Cosmic_Gene G G A G G TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 4638 3 123419195 123419195 14 ALL relapse snv PAPPA missense R1363Q NM_002581 10-PAPJHR PAPPA MISSENSE SNP Somatic PFAM:PF00084:Sushi 10 0.326 SQHIGH 15 29 44 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 5069 9 119115108 119115108 50 ALL relapse snv EDRF1 silent Q839Q NM_015608 10-PAPJHR EDRF1 SYNONYMOUS SNP Somatic -9 0.052 SQHIGH 5 27 32 0 45 45 Cosmic_Gene A A G A A TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 26098 10 127434304 127434304 20 ALL relapse snv RARRES3 missense A25T NM_004585 10-PAPJHR RARRES3 MISSENSE SNP Somatic PFAM:PF08405:Calici_PP_N 20 0.999 SQHIGH 16 14 30 0 43 43 Cosmic_Gene G G A G G TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 5920 11 63307051 63307051 76 ALL relapse snv MFAP5 splice_region S112_E9splice_region NM_003480 10-PAPJHR MFAP5 ACCEPTOR SNP Somatic 9 0.291 SQHIGH 18 22 40 0 26 26 Cosmic_Gene C C T C C TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 8076 12 8802174 8802174 48 ALL relapse snv SCYL2 missense R505L NM_017988 10-PAPJHR SCYL2 MISSENSE SNP Somatic 13 0.469 SQHIGH 11 22 33 1 32 33 Cosmic_Gene G G T G G TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 55681 12 100720404 100720404 29 ALL relapse snv GPC6-AS1 EXON E4_exon NM_005708 10-PAPJHR GPC6 INTRON SNP Somatic 7 0.236 SQHIGH 19 32 51 0 46 46 T T C T T TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 10082 13 94839494 94839494 62 ALL relapse snv FARP1 silent N246N NM_005766 10-PAPJHR FARP1 SYNONYMOUS SNP Somatic 14 0.542 SQHIGH 21 19 40 1 35 36 Cosmic_Gene C C T C C TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 10160 13 99038047 99038047 62 ALL relapse snv ZG16B silent A44A NM_145252 10-PAPJHR ZG16B SYNONYMOUS SNP Somatic 5 0.187 SQHIGH 17 12 29 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 124220 16 2880466 2880466 63 ALL relapse snv NCAN splice P1274_E14splice NM_004386 10-PAPJHR NCAN MISSENSE SNP dbsnp.134:rs148844959 Somatic 14 0.542 SQHIGH 27 28 55 2 64 66 Cosmic_Gene C C T C C TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 1463 19 19359691 19359691 89 ALL diagnosis snv CCDC85A missense E152K NM_001080433 10-PAPJHR CCDC85A MISSENSE SNP Somatic PFAM:PF10226:DUF2216 16 0.724 SQHIGH 27 28 55 0 49 49 Cosmic_Gene G G A G G TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 114800 2 56419789 56419789 92 ALL diagnosis snv IQGAP2 nonsense E753* NM_006633 10-PAPJHR IQGAP2 NONSENSE SNP Somatic -1 0.108 SQHIGH 12 17 29 0 42 42 Cosmic_Gene G G T G G TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 10788 5 75950765 75950765 54 ALL diagnosis snv VCAN missense V280M NM_004385 10-PAPJHR VCAN MISSENSE SNP Somatic 7 0.245 SQHIGH 7 19 26 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 1462 5 82808011 82808011 29 ALL diagnosis snv PPP2R2B missense V310I NM_001271899 10-PAPJHR PPP2R2B MISSENSE SNP Somatic PFAM:PF00400:WD40 3 0.159 SQHIGH 17 40 57 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 5521 5 145979904 145979904 40 ALL diagnosis snv CEP162 nonsense Q1112* NM_014895 10-PAPJHR CEP162 NONSENSE SNP Somatic 5 0.192 SQHIGH 10 31 41 1 37 38 Cosmic_Gene G G A G G TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 22832 6 84862559 84862559 23 ALL diagnosis snv CLVS1 silent Y136Y NM_173519 10-PAPJHR CLVS1 SYNONYMOUS SNP Somatic 11 0.383 SQHIGH 17 26 43 0 46 46 Cosmic_Gene C C T C C TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 157807 8 62212794 62212794 63 ALL diagnosis snv OR2AG1 silent T147T NM_001004489 10-PAPJHR OR2AG1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 7 0.245 SQHIGH 24 38 62 0 54 54 Cosmic_Gene G G A G G TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 144125 11 6806709 6806709 77 ALL diagnosis snv RARRES3 missense A25T NM_004585 10-PAPJHR RARRES3 MISSENSE SNP Somatic PFAM:PF08405:Calici_PP_N 3 0.159 SQHIGH 9 25 34 0 43 43 Cosmic_Gene G G A G G TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 5920 11 63307051 63307051 35 ALL diagnosis snv TAS2R19 nonsense *300W NM_176888 10-PAPJHR TAS2R19|PRH1-PRR4 NONSTOP|INTRON SNP dbsnp.131:rs79475879 Somatic 9 0.305 SQHIGH 5 17 22 0 26 26 Cosmic_Gene T T C T T TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 259294|100533464 12 11174271 11174271 18 ALL diagnosis snv GRIN2B missense R1057C NM_000834 10-PAPJHR GRIN2B MISSENSE SNP Somatic PFAM:PF10565:NMDAR2_C 6 0.220 SQHIGH 22 35 57 0 43 43 Cosmic_Gene G G A G G TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 2904 12 13717003 13717003 63 ALL diagnosis snv SCYL2 missense R505L NM_017988 10-PAPJHR SCYL2 MISSENSE SNP Somatic 2 0.145 SQHIGH 5 10 15 1 32 33 Cosmic_Gene G G T G G TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 55681 12 100720404 100720404 21 ALL diagnosis snv PPP4C splice_region R265_E8splice_region NM_002720 10-PAPJHR PPP4C DONOR SNP Somatic 0 0.120 SQHIGH 7 24 31 1 38 39 Cosmic_Gene G G A G G TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 5531 16 30096179 30096179 19 ALL diagnosis complex IRF1 frameshift L179_T180fs NM_002198 10-PAPJHR C5orf56|IRF1 UTR3|FRAMESHIFT Sub Somatic 1 0.665 SQHIGH 19 51 70 1 61 62 GTC GTC GG GTC GTC TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 441108|3659 5 131822254 131822256 48 ALL relapse snv DBT missense R178H NM_001918 10-PAPJIB DBT MISSENSE SNP dbsnp.134:rs139251881 Somatic PFAM:PF02817:E3_binding -24 0.011 3 14 17 1 23 24 Cosmic_Gene C C T C C TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 1629 1 100684204 100684204 7 ALL relapse snv NRAS missense G13D NM_002524 10-PAPJIB NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 0 0.154 SQHIGH 10 32 42 0 41 41 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 4893 1 115258744 115258744 32 ALL relapse snv SNORA36B EXON E9_exon NM_012414 10-PAPJIB MIR664|RAB3GAP2|SNORA36B TSS-UPSTREAM|INTRON|UTR SNP Somatic 1 0.177 SQHIGH 11 39 50 1 39 40 Cosmic_Gene T T A T T TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 100302234|25782|677818 1 220373990 220373990 22 ALL relapse snv MSH6 missense R1005Q NM_000179 10-PAPJIB MSH6 MISSENSE SNP Somatic PFAM:PF05190:MutS_IV -24 0.011 5 66 71 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 2956 2 48028136 48028136 9 ALL relapse snv TGFBRAP1 missense R399Q NM_004257 10-PAPJIB TGFBRAP1 MISSENSE SNP Somatic -5 0.082 SQHIGH 8 47 55 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 9392 2 105897106 105897106 19 ALL relapse snv SLC12A2 missense M593V NM_001046 10-PAPJIB SLC12A2 MISSENSE SNP Somatic PFAM:PF01490:Aa_trans -5 0.082 SQHIGH 3 7 10 0 17 17 Cosmic_Gene A A G A A TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 6558 5 127483317 127483317 14 ALL relapse snv SHANK2-AS3 EXON E8_exon NM_012309 10-PAPJIB SHANK2|SHANK2-AS3 INTRON|UTR SNP Somatic 3 0.232 SQHIGH 11 44 55 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 22941|220070 11 70709527 70709527 29 ALL relapse snv PPM1H silent P308P NM_020700 10-PAPJIB PPM1H SYNONYMOUS SNP Somatic -1 0.134 SQHIGH 12 36 48 0 44 44 Cosmic_Gene G G A G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 57460 12 63131312 63131312 37 ALL relapse snv FAM155A silent N25N NM_001080396 10-PAPJIB FAM155A SYNONYMOUS SNP Somatic 6 0.344 SQHIGH 19 37 56 0 53 53 Cosmic_Gene G G A G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 728215 13 108518870 108518870 63 ALL relapse snv FBN1 missense L53I NM_000138 10-PAPJIB LOC100506059|FBN1 TSS-UPSTREAM|MISSENSE SNP Somatic 2 0.203 SQHIGH 13 56 69 0 58 58 Cosmic_Gene G G T G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 100506059|2200 15 48936810 48936810 37 ALL relapse snv TPSG1 silent S87S NM_012467 10-PAPJIB TPSG1 SYNONYMOUS SNP Somatic 9 0.483 SQHIGH 31 30 61 0 49 49 G G A G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 25823 16 1272902 1272902 100 ALL relapse snv CREBBP missense R1446H NM_004380 10-PAPJIB CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 8 0.434 SQHIGH 29 33 62 1 42 43 COSMIC:mut:88748 Cosmic_Gene C C T C C TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 1387 16 3788617 3788617 70 ALL relapse snv SLC2A4 silent G146G NM_001042 10-PAPJIB SLC2A4 SYNONYMOUS SNP Somatic PFAM:PF00083:Sugar_tr -1 0.134 SQHIGH 28 89 117 0 56 56 C C T C C TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 6517 17 7187171 7187171 53 ALL relapse snv DNAH9 missense A410T NM_004662 10-PAPJIB DNAH9 MISSENSE SNP Somatic PFAM:PF03028:Dynein_heavy 0 0.154 SQHIGH 15 46 61 1 30 31 Cosmic_Gene G G A G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 1770 17 11835517 11835517 21 ALL relapse snv ERAL1 splice_region V238_E7splice_region NM_005702 10-PAPJIB ERAL1|MIR451B ACCEPTOR|TSS-UPSTREAM SNP Somatic 4 0.263 SQHIGH 23 86 109 0 61 61 Cosmic_Gene G G T G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 26284|100616273 17 27185588 27185588 48 ALL relapse snv ABCC3 silent V40V NM_003786 10-PAPJIB ABCC3 SYNONYMOUS SNP Somatic 6 0.344 SQHIGH 14 32 46 0 29 29 Cosmic_Gene G G A G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 8714 17 48733267 48733267 34 ALL relapse snv ZNF211 silent T280T NM_006385 10-PAPJIB ZNF211 SYNONYMOUS SNP dbsnp.134:rs147430705 Somatic -6 0.076 SQHIGH 10 65 75 0 46 46 Cosmic_Gene G G A G G TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 10520 19 58152655 58152655 22 ALL relapse snv LONRF3 missense C178W NM_001031855 10-PAPJIB LONRF3 MISSENSE SNP Somatic -1 0.134 SQHIGH 6 16 22 0 38 38 Cosmic_Gene T T G T T TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 79836 X 118109277 118109277 28 ALL relapse mnv EBF2 missense S293_E294>SQ NM_022659 10-PAPJIB EBF2 MISSENSE Sub Somatic -14 0.261 8 42 50 1 32 33 Cosmic_Gene CG CG GA CG CG TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 64641 8 25745360 25745361 12 ALL diagnosis snv DBT missense R178H NM_001918 10-PAPJIB DBT MISSENSE SNP dbsnp.134:rs139251881 Somatic PFAM:PF02817:E3_binding 1 0.185 SQHIGH 5 10 15 1 23 24 Cosmic_Gene C C T C C TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 1629 1 100684204 100684204 16 ALL diagnosis snv RIT1 missense M90I NM_006912 10-PAPJIB RIT1 MISSENSE SNP Somatic 3 0.243 SQHIGH 20 18 38 0 52 52 Cosmic_Gene C C G C C TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 6016 1 155874261 155874261 92 ALL diagnosis snv PROM2 missense L217V NM_001165978 10-PAPJIB PROM2 MISSENSE SNP Somatic PFAM:PF05478:Prominin -8 0.064 SQHIGH 7 51 58 0 39 39 Cosmic_Gene C C G C C TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 150696 2 95942372 95942372 16 ALL diagnosis snv SCN5A silent F756F NM_198056 10-PAPJIB SCN5A SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans 2 0.213 SQHIGH 19 76 95 1 57 58 Cosmic_Gene G G A G G TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 6331 3 38629059 38629059 33 ALL diagnosis snv KALRN missense R1125W NM_001024660 10-PAPJIB KALRN MISSENSE SNP Somatic -23 0.013 11 59 70 2 50 52 Cosmic_Gene C C T C C TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 8997 3 124165073 124165073 15 ALL diagnosis snv GRIA2 missense G822R NM_000826 10-PAPJIB GRIA2 MISSENSE SNP Somatic 9 0.500 SQHIGH 11 27 38 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 2891 4 158284008 158284008 31 ALL diagnosis snv SNAP91 missense G258A NM_014841 10-PAPJIB SNAP91 INTRON,MISSENSE SNP Somatic -5 0.086 SQHIGH 5 26 31 0 29 29 Cosmic_Gene C C G C C TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 9892 6 84333054 84333054 15 ALL diagnosis snv WNK2 missense T1867M NM_006648 10-PAPJIB WNK2 MISSENSE SNP Somatic 2 0.213 SQHIGH 24 23 47 0 14 14 Cosmic_Gene C C T C C TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 65268 9 96055347 96055347 36 ALL diagnosis snv PRR26 EXON E1_exon NM_014974 10-PAPJIB DIP2C|C10orf108 INTRON|TSS-UPSTREAM,UTR SNP Somatic 5 0.314 SQHIGH 14 34 48 0 52 52 Cosmic_Gene C C T C C TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 22982|414235 10 695900 695900 50 ALL diagnosis snv DRAM1 missense A169V NM_018370 10-PAPJIB DRAM1 MISSENSE SNP Somatic PFAM:PF10277:Frag1 3 0.243 SQHIGH 33 54 87 0 54 54 Cosmic_Gene C C T C C TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 55332 12 102302127 102302127 82 ALL diagnosis snv PTPN11 missense S502P NM_002834 10-PAPJIB PTPN11 MISSENSE SNP Somatic 3 0.243 SQHIGH 15 43 58 0 42 42 COSMIC:mut:13020 Cosmic_Gene T T C T T TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 5781 12 112926884 112926884 39 ALL diagnosis snv CYFIP1 missense E1011K NM_014608 10-PAPJIB CYFIP1 MISSENSE SNP Somatic PFAM:PF05994:FragX_IP -14 0.036 12 26 38 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 23191 15 22993144 22993144 39 ALL diagnosis snv ACAN missense D1427G NM_001135 10-PAPJIB ACAN MISSENSE SNP Somatic 1 0.185 SQHIGH 8 33 41 0 32 32 Cosmic_Gene A A G A A TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 176 15 89400096 89400096 21 ALL diagnosis snv CNTNAP4 missense C911G NM_138994 10-PAPJIB CNTNAP4 MISSENSE SNP Somatic -8 0.064 SQHIGH 7 21 28 0 27 27 Cosmic_Gene T T G T T TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 85445 16 76569636 76569636 22 ALL diagnosis snv IL27RA missense T421M NM_004843 10-PAPJIB IL27RA MISSENSE SNP Somatic PFAM:PF00041:fn3 0 0.161 SQHIGH 17 18 35 0 23 23 C C T C C TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 9466 19 14159986 14159986 46 ALL diagnosis snv ZNF582 missense Y283H NM_144690 10-PAPJIB ZNF582 MISSENSE SNP Somatic -35 0.003 5 44 49 0 49 49 COSMIC:mut:50472 Cosmic_Gene A A G A A TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 147948 19 56895939 56895939 16 ALL diagnosis snv MCF2 missense S949P NM_001099855 10-PAPJIB MCF2 INTRON,MISSENSE SNP Somatic 10 0.554 SQHIGH 10 28 38 1 31 32 Cosmic_Gene A A G A A TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 4168 X 138667305 138667305 21 ALL relapse snv PLEKHH2 missense D640E NM_172069 10-PAPJXI PLEKHH2 MISSENSE SNP Somatic -4 0.093 SQHIGH 3 13 16 0 26 26 Cosmic_Gene C C G C C TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 130271 2 43934638 43934638 13 ALL relapse snv TPRG1 missense P198L NM_198485 10-PAPJXI TPRG1 MISSENSE SNP Somatic 2 0.157 SQHIGH 10 8 18 0 12 12 C C T C C TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 285386 3 189028288 189028288 28 ALL relapse snv TENM3 missense R2591H NM_001080477 10-PAPJXI TENM3 MISSENSE SNP Somatic -3 0.100 SQHIGH 9 11 20 0 12 12 G G A G G TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 55714 4 183721176 183721176 22 ALL relapse snv SOX7 missense Y246D NM_031439 10-PAPJXI SOX7 MISSENSE SNP Somatic PFAM:PF12067:DUF3547 -9 0.064 SQHIGH 7 24 31 0 28 28 Cosmic_Gene A A C A A TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 83595 8 10583679 10583679 21 ALL relapse snv SCARA5 missense R100W NM_173833 10-PAPJXI LOC100652947|SCARA5 INTRON|MISSENSE SNP Somatic 18 0.883 SQHIGH 15 11 26 1 28 29 Cosmic_Gene G G A G G TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 100652947|286133 8 27779706 27779706 51 ALL relapse snv SH3GL2 missense E134K NM_003026 10-PAPJXI SH3GL2 MISSENSE SNP Somatic 11 0.385 SQHIGH 24 24 48 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 6456 9 17787446 17787446 81 ALL relapse snv KCNQ1OT1 EXON E11_exon NM_000218 10-PAPJXI KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 10 0.345 SQHIGH 23 32 56 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 3784|10984 11 2702538 2702538 68 ALL relapse snv ZMYM2 missense S510R NM_003453 10-PAPJXI ZMYM2 MISSENSE SNP Somatic -5 0.086 SQHIGH 6 17 23 0 14 14 Cosmic_Gene C C G C C TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 7750 13 20593704 20593704 14 ALL relapse snv CDC42BPB missense A614T NM_006035 10-PAPJXI CDC42BPB MISSENSE SNP Somatic 8 0.280 SQHIGH 24 20 44 0 20 20 Cosmic_Gene C C T C C TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 9578 14 103438300 103438300 52 ALL relapse snv MAGEL2 missense R881H NM_019066 10-PAPJXI MAGEL2 MISSENSE SNP Somatic 17 0.835 SQHIGH 19 3 22 0 30 30 C T T C C TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 54551 15 23890248 23890248 107 ALL relapse snv LDLRAD4 silent N237N NM_001003674 10-PAPJXI LDLRAD4 SYNONYMOUS SNP Somatic 12 0.433 SQHIGH 9 18 27 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 753 18 13645557 13645557 31 ALL relapse snv PTPRS missense N356S NM_002850 10-PAPJXI PTPRS MISSENSE SNP Somatic 15 0.642 SQHIGH 34 27 61 1 48 49 Cosmic_Gene T T C T T TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 5802 19 5244415 5244415 99 ALL relapse snv URB1 silent S1948S NM_014825 10-PAPJXI URB1 SYNONYMOUS SNP Somatic 3 0.171 SQHIGH 16 75 91 0 57 57 G G A G G TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 9875 21 33690177 33690177 36 ALL relapse snv KCNJ15 silent L146L NM_170736 10-PAPJXI KCNJ15 SYNONYMOUS SNP Somatic PFAM:PF07885:Ion_trans_2 2 0.157 SQHIGH 43 195 238 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 3772 21 39671621 39671621 48 ALL relapse snv MID2 missense G589S NM_012216 10-PAPJXI MID2 MISSENSE SNP Somatic PFAM:PF00622:SPRY 5 0.204 SQHIGH 9 8 17 0 13 13 Cosmic_Gene G G A G G TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 11043 X 107169491 107169491 28 ALL relapse snv GPR112 silent E2302E NM_153834 10-PAPJXI GPR112 SYNONYMOUS SNP Somatic 14 0.562 SQHIGH 38 37 75 0 58 58 Cosmic_Gene G G A G G TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 139378 X 135438303 135438303 119 ALL diagnosis snv KIF1A silent N135N NM_004321 10-PAPJXI KIF1A SYNONYMOUS SNP dbsnp.134:rs151212200 Somatic 6 0.224 SQHIGH 22 37 59 1 55 56 Cosmic_Gene G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 547 2 241726692 241726692 62 ALL diagnosis snv TPRG1 missense P198L NM_198485 10-PAPJXI TPRG1 MISSENSE SNP Somatic 2 0.154 SQHIGH 8 9 17 0 12 12 C C T C C TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 285386 3 189028288 189028288 22 ALL diagnosis snv TENM3 missense R2591H NM_001080477 10-PAPJXI TENM3 MISSENSE SNP Somatic -3 0.098 SQHIGH 9 12 21 0 12 12 G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 55714 4 183721176 183721176 21 ALL diagnosis snv SCARA5 missense R100W NM_173833 10-PAPJXI LOC100652947|SCARA5 INTRON|MISSENSE SNP Somatic 16 0.713 SQHIGH 14 18 32 1 28 29 Cosmic_Gene G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 100652947|286133 8 27779706 27779706 37 ALL diagnosis snv SH3GL2 missense E134K NM_003026 10-PAPJXI SH3GL2 MISSENSE SNP Somatic 12 0.427 SQHIGH 16 22 38 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 6456 9 17787446 17787446 61 ALL diagnosis snv KCNQ1OT1 EXON E11_exon NM_000218 10-PAPJXI KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 6 0.224 SQHIGH 19 31 50 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 3784|10984 11 2702538 2702538 59 ALL diagnosis snv CDC42BPB missense A614T NM_006035 10-PAPJXI CDC42BPB MISSENSE SNP Somatic 8 0.273 SQHIGH 13 20 33 0 20 20 Cosmic_Gene C C T C C TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 9578 14 103438300 103438300 32 ALL diagnosis snv PTPRS missense N356S NM_002850 10-PAPJXI PTPRS MISSENSE SNP Somatic 15 0.639 SQHIGH 22 27 49 1 48 49 Cosmic_Gene T T C T T TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 5802 19 5244415 5244415 68 ALL diagnosis snv MYH14 silent P679P NM_001145809 10-PAPJXI MYH14 SYNONYMOUS,INTRON SNP Somatic 2 0.154 SQHIGH 11 48 59 0 48 48 Cosmic_Gene G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 79784 19 50758568 50758568 30 ALL diagnosis snv NCOA6 missense S1349P NM_014071 10-PAPJXI NCOA6 INTRON,MISSENSE SNP Somatic -24 0.012 9 45 54 1 38 39 Cosmic_Gene A A G A A TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 23054 20 33330015 33330015 15 ALL diagnosis snv URB1 silent S1948S NM_014825 10-PAPJXI URB1 SYNONYMOUS SNP Somatic 4 0.182 SQHIGH 18 65 83 0 57 57 G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 9875 21 33690177 33690177 45 ALL diagnosis snv KCNJ15 silent L146L NM_170736 10-PAPJXI KCNJ15 SYNONYMOUS SNP Somatic PFAM:PF07885:Ion_trans_2 2 0.154 SQHIGH 37 204 241 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 3772 21 39671621 39671621 41 ALL diagnosis snv MID2 missense G589S NM_012216 10-PAPJXI MID2 MISSENSE SNP Somatic PFAM:PF00622:SPRY 6 0.224 SQHIGH 11 9 20 0 13 13 Cosmic_Gene G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 11043 X 107169491 107169491 31 ALL diagnosis snv GPR112 silent E2302E NM_153834 10-PAPJXI GPR112 SYNONYMOUS SNP Somatic 7 0.248 SQHIGH 23 34 57 0 59 59 Cosmic_Gene G G A G G TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 139378 X 135438303 135438303 83 ALL diagnosis complex WDR4 frameshift S330_T331fs NM_018669 10-PAPJXI WDR4 FRAMESHIFT Sub Somatic -9 0.277 SQHIGH 11 33 44 0 58 58 Cosmic_Gene CGGTGCT CGGTGCT CAGACTCC CGGTGCT CGGTGCT TARGET-10-PAPJXI-09A-01D TARGET-10-PAPJXI-10A-01D 10785 21 44272416 44272422 44 ALL diagnosis snv C2orf54 missense F70C NM_001085437 10-PAPKNC C2orf54 TSS-UPSTREAM,MISSENSE SNP Somatic 16 0.760 SQHIGH 14 22 36 0 42 42 A A C A A TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 79919 2 241835206 241835206 54 ALL diagnosis snv DPPA2 missense R292T NM_138815 10-PAPKNC DPPA2 MISSENSE SNP Somatic 4 0.155 SQHIGH 24 46 70 0 67 67 Cosmic_Gene C C G C C TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 151871 3 109019262 109019262 80 ALL diagnosis snv PIK3R4 missense F336L NM_014602 10-PAPKNC PIK3R4 MISSENSE SNP Somatic 1 0.114 SQHIGH 11 42 53 0 50 50 Cosmic_Gene A A T A A TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 30849 3 130452834 130452834 34 ALL diagnosis snv ZIC4 silent P259P NM_001168378 10-PAPKNC ZIC4 SYNONYMOUS,TSS-UPSTREAM SNP Somatic -10 0.042 SQHIGH 20 25 45 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 84107 3 147113700 147113700 70 ALL diagnosis snv LPHN3 missense R619Q NM_015236 10-PAPKNC LPHN3 MISSENSE SNP Somatic PFAM:PF12003:DUF3497 -2 0.085 SQHIGH 8 18 26 0 26 26 Cosmic_Gene G G A G G TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 23284 4 62775450 62775450 27 ALL diagnosis snv PCDHGA4 missense A668T NM_018917 10-PAPKNC PCDHGA3|PCDHGA4|PCDHGB1|PCDHGA2|PCDHGA1|PCDHGB2 INTRON|MISSENSE|INTRON|INTRON|INTRON|TSS-UPSTREAM SNP Somatic 8 0.252 SQHIGH 14 27 41 0 19 19 Cosmic_Gene G G A G G TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 56112|56111|56104|56113|56114|56103 5 140736676 140736676 27 ALL diagnosis snv ZNF483 missense R30I NM_133464 10-PAPKNC ZNF483 MISSENSE SNP Somatic 6 0.200 SQHIGH 16 46 62 0 58 58 Cosmic_Gene G G T G G TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 158399 9 114289764 114289764 51 ALL diagnosis snv KMT2D missense R5432W NM_003482 10-PAPKNC MLL2|PRKAG1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00856:SET 1 0.114 SQHIGH 13 51 64 0 74 74 Cosmic_Gene G G A G G TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 8085|5571 12 49416417 49416417 47 ALL diagnosis snv FRY missense A289D NM_023037 10-PAPKNC FRY MISSENSE SNP Somatic -5 0.064 SQHIGH 8 34 42 1 51 52 Cosmic_Gene C C A C C TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 10129 13 32705958 32705958 22 ALL diagnosis snv CDH5 silent L389L NM_001795 10-PAPKNC CDH5 SYNONYMOUS SNP Somatic 9 0.284 SQHIGH 31 39 70 0 62 62 Cosmic_Gene G G A G G TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 1003 16 66426236 66426236 103 ALL diagnosis snv SLC4A1 missense V488M NM_000342 10-PAPKNC SLC4A1 MISSENSE SNP dbsnp.125:rs28931584 Somatic PFAM:PF00955:HCO3_cotransp 12 0.418 SQHIGH 9 28 37 0 31 31 Cosmic_Gene C C T C C TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 6521 17 42334882 42334882 26 ALL diagnosis snv TGIF2 silent V30V NM_021809 10-PAPKNC TGIF2|TGIF2-C20ORF24 SYNONYMOUS|SYNONYMOUS SNP Somatic PFAM:PF00046:Homeobox -5 0.064 SQHIGH 10 58 68 0 75 75 Cosmic_Gene G G T G G TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 60436|100527943 20 35207267 35207267 34 ALL relapse snv NEGR1 missense P237L NM_173808 10-PAPLDL NEGR1 MISSENSE SNP Somatic 8 0.247 SQHIGH 15 26 41 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 257194 1 72076787 72076787 46 ALL relapse snv PAPPA2 missense G1186R NM_020318 10-PAPLDL PAPPA2 MISSENSE SNP Somatic 8 0.247 SQHIGH 17 25 42 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 60676 1 176679217 176679217 63 ALL relapse snv CACNA1E missense R924C NM_000721 10-PAPLDL CACNA1E MISSENSE SNP Somatic 11 0.347 SQHIGH 12 35 47 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 777 1 181701992 181701992 35 ALL relapse snv FSHR silent F590F NM_000145 10-PAPLDL FSHR SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 9 0.276 SQHIGH 24 36 60 0 73 73 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 2492 2 49190190 49190190 97 ALL relapse snv LRP2 missense P1254L NM_004525 10-PAPLDL LRP2 MISSENSE SNP Somatic PFAM:PF00057:Ldl_recept_a -7 0.062 SQHIGH 6 36 42 0 55 55 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 4036 2 170097782 170097782 23 ALL relapse snv BMPR2 nonsense R321* NM_001204 10-PAPLDL BMPR2 NONSENSE SNP Somatic PFAM:PF00069:Pkinase -4 0.078 SQHIGH 5 22 27 0 23 23 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 659 2 203384918 203384918 14 ALL relapse snv SLC23A3 splice R256_E6splice NM_144712 10-PAPLDL SLC23A3 SYNONYMOUS,MISSENSE SNP Somatic PFAM:PF00860:Xan_ur_permease PFAM:PF00916:Sulfate_transp -3 0.084 SQHIGH 7 39 46 0 55 55 C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 151295 2 220032917 220032917 25 ALL relapse snv FAM19A4 missense E69K NM_182522 10-PAPLDL FAM19A4 MISSENSE SNP Somatic PFAM:PF12020:TAFA 9 0.276 SQHIGH 22 30 52 0 48 48 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 151647 3 68802095 68802095 74 ALL relapse snv PDE6B silent V138V NM_000283 10-PAPLDL PDE6B SYNONYMOUS SNP Somatic PFAM:PF01590:GAF 8 0.247 SQHIGH 19 28 47 0 49 49 C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 5158 4 619829 619829 69 ALL relapse snv FRAS1 silent I2822I NM_025074 10-PAPLDL FRAS1 SYNONYMOUS SNP Somatic PFAM:PF03160:Calx-beta -4 0.078 SQHIGH 8 55 63 1 81 82 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 80144 4 79402980 79402980 22 ALL relapse snv ANXA5 silent S44S NM_001154 10-PAPLDL ANXA5 SYNONYMOUS SNP Somatic PFAM:PF00191:Annexin -3 0.084 SQHIGH 7 5 12 0 35 35 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 308 4 122605889 122605889 49 ALL relapse snv DNAH5 silent T2631T NM_001369 10-PAPLDL DNAH5 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 10 0.309 SQHIGH 15 25 40 0 24 24 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 1767 5 13794162 13794162 36 ALL relapse snv TUBB2B silent T72T NM_178012 10-PAPLDL LOC100507294|TUBB2B TSS-UPSTREAM|SYNONYMOUS SNP Somatic 8 0.247 SQHIGH 23 31 54 1 37 38 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 100507294|347733 6 3226454 3226454 53 ALL relapse snv DPPA5 silent Y71Y NM_001025290 10-PAPLDL DPPA5 SYNONYMOUS SNP Somatic 6 0.201 SQHIGH 9 18 27 0 30 30 G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 340168 6 74063655 74063655 33 ALL relapse snv ULBP1 nonsense W201* NM_025218 10-PAPLDL ULBP1 NONSENSE SNP Somatic PFAM:PF00129:MHC_I 5 0.177 SQHIGH 26 66 92 0 100 100 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 80329 6 150290473 150290473 92 ALL relapse snv ITGB8 missense L358F NM_002214 10-PAPLDL ITGB8 MISSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 14 0.524 SQHIGH 9 19 28 0 36 36 Cosmic_Gene G G T G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 3696 7 20434536 20434536 36 ALL relapse snv CREB5 missense G181E NM_182898 10-PAPLDL CREB5 MISSENSE SNP Somatic -28 0.006 4 33 37 1 55 56 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 9586 7 28758447 28758447 11 ALL relapse snv ZNF735 silent E378E NM_001159524 10-PAPLDL ZNF735 SYNONYMOUS SNP Somatic 12 0.395 SQHIGH 11 16 27 0 19 19 G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 730291 7 63680563 63680563 30 ALL relapse snv AOC1 missense V339G NM_001091 10-PAPLDL AOC1 MISSENSE SNP Somatic PFAM:PF01179:Cu_amine_oxid 19 0.941 SQHIGH 16 21 37 2 42 44 Cosmic_Gene T T G T T TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 26 7 150554574 150554574 45 ALL relapse snv PAX5 missense F110I NM_016734 10-PAPLDL PAX5 MISSENSE SNP Somatic 14 0.524 SQHIGH 11 22 33 0 37 37 Cosmic_Gene A A T A A TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 5079 9 37015076 37015076 40 ALL relapse snv PTPN3 silent K318K NM_002829 10-PAPLDL PTPN3 SYNONYMOUS SNP Somatic 7 0.223 SQHIGH 19 31 50 1 50 51 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 5774 9 112189277 112189277 56 ALL relapse snv COL5A1 missense L1505R NM_000093 10-PAPLDL COL5A1 MISSENSE SNP Somatic -10 0.049 SQHIGH 8 56 64 0 54 54 Cosmic_Gene T T G T T TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 1289 9 137712029 137712029 22 ALL relapse snv COL5A1 missense P1506R NM_000093 10-PAPLDL COL5A1 MISSENSE SNP Somatic -10 0.049 SQHIGH 8 53 61 0 55 55 Cosmic_Gene C C G C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 1289 9 137712032 137712032 23 ALL relapse snv PCDH15 missense R280P NM_001142763 10-PAPLDL PCDH15 MISSENSE SNP Somatic -12 0.042 4 22 26 0 26 26 Cosmic_Gene C C G C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 65217 10 56077083 56077083 13 ALL relapse snv ANK3 missense R3230H NM_020987 10-PAPLDL ANK3 INTRON,MISSENSE SNP Somatic 9 0.276 SQHIGH 9 21 30 0 22 22 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 288 10 61830950 61830950 24 ALL relapse snv FAT3 silent A3348A NM_001008781 10-PAPLDL FAT3 SYNONYMOUS SNP Somatic 18 0.873 SQHIGH 11 12 23 0 24 24 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 120114 11 92568208 92568208 41 ALL relapse snv CLEC1B silent L73L NM_016509 10-PAPLDL CLEC1B SYNONYMOUS SNP Somatic 11 0.347 SQHIGH 31 37 68 0 33 33 G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 51266 12 10149825 10149825 66 ALL relapse snv KRT76 missense R466H NM_015848 10-PAPLDL KRT76 MISSENSE SNP dbsnp.134:rs143394911 Somatic PFAM:PF00038:Filament -1 0.102 SQHIGH 9 35 44 0 55 55 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 51350 12 53164870 53164870 34 ALL relapse snv ANO4 missense E630K NM_178826 10-PAPLDL ANO4 MISSENSE SNP Somatic PFAM:PF04547:Anoctamin 9 0.276 SQHIGH 24 35 59 0 61 61 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 121601 12 101491710 101491710 87 ALL relapse snv PTPN11 missense N58Y NM_002834 10-PAPLDL PTPN11 MISSENSE SNP Somatic -8 0.056 SQHIGH 4 24 28 0 45 45 COSMIC:mut:13032 Cosmic_Gene A A T A A TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 5781 12 112888156 112888156 17 ALL relapse snv TMEM132D silent I383I NM_133448 10-PAPLDL TMEM132D SYNONYMOUS SNP Somatic 14 0.524 SQHIGH 41 6 47 0 48 48 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 121256 12 129822329 129822329 201 ALL relapse snv LMO7 silent F733F NM_005358 10-PAPLDL LMO7 SYNONYMOUS SNP Somatic 5 0.177 SQHIGH 15 39 54 2 43 45 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 4008 13 76407282 76407282 28 ALL relapse snv TRPM1 nonsense R1274* NM_002420 10-PAPLDL TRPM1 NONSENSE SNP Somatic 6 0.201 SQHIGH 18 36 54 0 56 56 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 4308 15 31295017 31295017 63 ALL relapse snv CEP152 silent T852T NM_014985 10-PAPLDL CEP152 SYNONYMOUS SNP Somatic 12 0.395 SQHIGH 15 26 41 1 40 41 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 22995 15 49054594 49054594 42 ALL relapse snv SNX1 missense E138Q NM_003099 10-PAPLDL SNX1 INTRON,MISSENSE SNP Somatic 4 0.162 SQHIGH 11 42 53 0 57 57 G G C G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 6642 15 64410999 64410999 37 ALL relapse snv CREBBP missense R1446H NM_004380 10-PAPLDL CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 -20 0.015 6 40 46 1 53 54 COSMIC:mut:88748 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 1387 16 3788617 3788617 15 ALL relapse snv CREBBP missense R1441P NM_004380 10-PAPLDL CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 -33 0.003 3 37 40 0 49 49 Cosmic_Gene C C G C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 1387 16 3788632 3788632 11 ALL relapse snv GRIN2A splice_region V500_E7splice_region NM_001134407 10-PAPLDL GRIN2A ACCEPTOR SNP Somatic 12 0.395 SQHIGH 25 31 56 0 57 57 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 2903 16 9934661 9934661 91 ALL relapse snv MYH1 silent K638K NM_005963 10-PAPLDL MYH1 SYNONYMOUS SNP Somatic 4 0.162 SQHIGH 25 17 42 0 36 36 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 4619 17 10411257 10411257 88 ALL relapse snv CCL15-CCL14 EXON E1_exon NM_032965 10-PAPLDL CCL15|CCL14-CCL15 UTR5|UTR SNP Somatic 19 0.941 SQHIGH 18 21 39 0 38 38 Cosmic_Gene C C A C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 6359|348249 17 34328599 34328599 64 ALL relapse snv DSG2 silent S999S NM_001943 10-PAPLDL LOC100652770|DSG2 INTRON|SYNONYMOUS SNP Somatic 17 0.826 SQHIGH 34 32 66 0 59 59 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 100652770|1829 18 29126346 29126346 118 ALL relapse snv BEST2 splice_region V239_E6splice_region NM_017682 10-PAPLDL BEST2 ACCEPTOR SNP Somatic 11 0.347 SQHIGH 14 31 45 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 54831 19 12866422 12866422 40 ALL relapse snv CYP4F11 silent F127F NM_021187 10-PAPLDL CYP4F11 SYNONYMOUS SNP Somatic PFAM:PF00067:p450 14 0.524 SQHIGH 27 37 64 0 54 54 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 57834 19 16038256 16038256 86 ALL relapse snv IRGC missense R167C NM_019612 10-PAPLDL IRGC MISSENSE SNP Somatic 0 0.112 SQHIGH 8 36 44 0 26 26 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 56269 19 44223209 44223209 17 ALL relapse snv ZC3H4 missense P737S NM_015168 10-PAPLDL ZC3H4 MISSENSE SNP Somatic 6 0.201 SQHIGH 23 41 64 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 23211 19 47572538 47572538 58 ALL relapse snv ZNF334 missense E629K NM_018102 10-PAPLDL ZNF334 MISSENSE SNP Somatic 10 0.309 SQHIGH 19 22 41 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 55713 20 45130093 45130093 62 ALL relapse snv CRELD2 missense A285V NM_001135101 10-PAPLDL ALG12|CRELD2 TSS-UPSTREAM|MISSENSE SNP Somatic 14 0.524 SQHIGH 11 15 26 0 23 23 C C T C C TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 79087|79174 22 50316900 50316900 36 ALL relapse snv GLRA2 missense V341I NM_002063 10-PAPLDL GLRA2 MISSENSE SNP Somatic 15 0.616 SQHIGH 10 29 39 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 2742 X 14708922 14708922 31 ALL relapse mnv CEP112 missense Q805M NM_145036 10-PAPLDL CEP112 MISSENSE Sub Somatic 5 0.983 SQHIGH 14 24 38 0 48 48 TG TG AT TG TG TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 201134 17 63746823 63746824 57 ALL diagnosis snv LRRC42 missense D239N NM_052940 10-PAPLDL LRRC42 MISSENSE SNP Somatic 4 0.165 SQHIGH 11 43 54 0 55 55 G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 115353 1 54426138 54426138 36 ALL diagnosis snv C8B missense S502F NM_000066 10-PAPLDL C8B MISSENSE SNP Somatic 1 0.124 SQHIGH 8 40 48 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 732 1 57399055 57399055 31 ALL diagnosis snv PAPPA2 missense G1186R NM_020318 10-PAPLDL PAPPA2 MISSENSE SNP Somatic 8 0.260 SQHIGH 17 30 47 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 60676 1 176679217 176679217 57 ALL diagnosis snv CACNA1E missense R924C NM_000721 10-PAPLDL CACNA1E MISSENSE SNP Somatic 15 0.646 SQHIGH 13 20 33 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 777 1 181701992 181701992 51 ALL diagnosis snv HMCN1 missense P1008S NM_031935 10-PAPLDL HMCN1 MISSENSE SNP Somatic PFAM:PF00047:ig -13 0.037 16 33 49 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 83872 1 185956650 185956650 51 ALL diagnosis snv FSHR silent F590F NM_000145 10-PAPLDL FSHR SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 6 0.208 SQHIGH 24 54 78 0 73 73 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 2492 2 49190190 49190190 78 ALL diagnosis snv COL6A3 silent D360D NM_004369 10-PAPLDL COL6A3 SYNONYMOUS,INTRON SNP Somatic PFAM:PF04811:Sec23_trunk -12 0.041 4 27 31 0 58 58 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 1293 2 238296457 238296457 19 ALL diagnosis snv QRICH1 missense R511G NM_017730 10-PAPLDL QRICH1 MISSENSE SNP Somatic -4 0.078 SQHIGH 4 15 19 0 24 24 Cosmic_Gene G G C G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 54870 3 49083998 49083998 15 ALL diagnosis snv FAM19A4 missense E69K NM_182522 10-PAPLDL FAM19A4 MISSENSE SNP Somatic PFAM:PF12020:TAFA 14 0.553 SQHIGH 26 15 41 0 48 48 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 151647 3 68802095 68802095 115 ALL diagnosis snv PDE6B silent V138V NM_000283 10-PAPLDL PDE6B SYNONYMOUS SNP Somatic PFAM:PF01590:GAF 9 0.291 SQHIGH 28 30 58 0 49 49 C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 5158 4 619829 619829 92 ALL diagnosis snv ANXA5 silent S44S NM_001154 10-PAPLDL ANXA5 SYNONYMOUS SNP Somatic PFAM:PF00191:Annexin -3 0.085 SQHIGH 16 15 31 0 35 35 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 308 4 122605889 122605889 65 ALL diagnosis snv DNAH5 silent T2631T NM_001369 10-PAPLDL DNAH5 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 10 0.327 SQHIGH 12 34 46 0 24 24 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 1767 5 13794162 13794162 24 ALL diagnosis snv DNAH5 silent F2377F NM_001369 10-PAPLDL DNAH5 SYNONYMOUS SNP Somatic 1 0.124 SQHIGH 9 19 28 0 19 19 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 1767 5 13814813 13814813 23 ALL diagnosis snv OR2V2 missense I18F NM_206880 10-PAPLDL OR2V2 MISSENSE SNP Somatic 5 0.181 SQHIGH 5 23 28 0 32 32 Cosmic_Gene A A T A A TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 285659 5 180581994 180581994 17 ALL diagnosis snv TUBB2B silent T72T NM_178012 10-PAPLDL LOC100507294|TUBB2B TSS-UPSTREAM|SYNONYMOUS SNP Somatic 9 0.291 SQHIGH 27 21 48 1 37 38 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 100507294|347733 6 3226454 3226454 76 ALL diagnosis snv COL10A1 silent L306L NM_000493 10-PAPLDL NT5DC1|COL10A1 INTRON|SYNONYMOUS SNP Somatic -9 0.052 SQHIGH 6 18 24 1 25 26 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 221294|1300 6 116442363 116442363 14 ALL diagnosis snv DNAH11 missense S3079L NM_001277115 10-PAPLDL DNAH11 MISSENSE SNP Somatic PFAM:PF00485:PRK 12 0.419 SQHIGH 15 30 45 0 47 47 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 8701 7 21813517 21813517 53 ALL diagnosis snv ZNF735 silent E378E NM_001159524 10-PAPLDL ZNF735 SYNONYMOUS SNP Somatic 10 0.327 SQHIGH 9 19 28 0 19 19 G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 730291 7 63680563 63680563 23 ALL diagnosis snv AOC1 missense V339G NM_001091 10-PAPLDL AOC1 MISSENSE SNP Somatic PFAM:PF01179:Cu_amine_oxid 12 0.419 SQHIGH 18 29 47 2 42 44 Cosmic_Gene T T G T T TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 26 7 150554574 150554574 41 ALL diagnosis snv TMEM215 silent V77V NM_212558 10-PAPLDL TMEM215 SYNONYMOUS SNP Somatic 11 0.368 SQHIGH 28 14 42 0 43 43 C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 401498 9 32784412 32784412 116 ALL diagnosis snv SPAG8 missense R41K NM_001039592 10-PAPLDL SPAG8 MISSENSE SNP Somatic -1 0.102 SQHIGH 11 39 50 0 28 28 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 26206 9 35811921 35811921 23 ALL diagnosis snv PAX5 missense F110I NM_016734 10-PAPLDL PAX5 MISSENSE SNP Somatic 18 0.889 SQHIGH 25 2 27 0 37 37 Cosmic_Gene A T T A A TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 5079 9 37015076 37015076 151 ALL diagnosis snv LPPR1 missense A26V NM_207299 10-PAPLDL LPPR1 MISSENSE SNP Somatic 11 0.368 SQHIGH 15 29 44 0 54 54 C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 54886 9 104032175 104032175 59 ALL diagnosis snv PTPN3 silent K318K NM_002829 10-PAPLDL PTPN3 SYNONYMOUS SNP Somatic 12 0.419 SQHIGH 25 34 59 1 50 51 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 5774 9 112189277 112189277 69 ALL diagnosis snv TRIM66 silent L525L NM_014818 10-PAPLDL TRIM66 SYNONYMOUS SNP Somatic -8 0.056 SQHIGH 6 27 33 0 26 26 G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 9866 11 8661912 8661912 16 ALL diagnosis snv FAT3 silent A3348A NM_001008781 10-PAPLDL FAT3 SYNONYMOUS SNP Somatic 12 0.419 SQHIGH 14 27 41 0 24 24 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 120114 11 92568208 92568208 32 ALL diagnosis snv ZC3H12C silent P726P NM_033390 10-PAPLDL ZC3H12C SYNONYMOUS SNP Somatic 0 0.113 SQHIGH 8 35 43 0 53 53 C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 85463 11 110035988 110035988 30 ALL diagnosis snv CLEC1B silent L73L NM_016509 10-PAPLDL CLEC1B SYNONYMOUS SNP Somatic 12 0.419 SQHIGH 25 24 49 0 33 33 G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 51266 12 10149825 10149825 71 ALL diagnosis snv ANO4 missense E630K NM_178826 10-PAPLDL ANO4 MISSENSE SNP Somatic PFAM:PF04547:Anoctamin 11 0.368 SQHIGH 28 32 60 0 61 61 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 121601 12 101491710 101491710 103 ALL diagnosis snv TMEM132D silent I383I NM_133448 10-PAPLDL TMEM132D SYNONYMOUS SNP Somatic 15 0.646 SQHIGH 37 2 39 0 48 48 Cosmic_Gene G A A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 121256 12 129822329 129822329 218 ALL diagnosis snv TRPM1 nonsense R1274* NM_002420 10-PAPLDL TRPM1 NONSENSE SNP Somatic 15 0.646 SQHIGH 29 26 55 0 56 56 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 4308 15 31295017 31295017 111 ALL diagnosis snv CEP152 silent T852T NM_014985 10-PAPLDL CEP152 SYNONYMOUS SNP Somatic 17 0.841 SQHIGH 27 16 43 1 40 41 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 22995 15 49054594 49054594 91 ALL diagnosis snv AKAP13 silent V2317V NM_006738 10-PAPLDL AKAP13 SYNONYMOUS SNP Somatic PFAM:PF00638:Ran_BP1 16 0.720 SQHIGH 13 25 38 1 44 45 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 11214 15 86270413 86270413 40 ALL diagnosis snv GRIN2A splice_region V500_E7splice_region NM_001134407 10-PAPLDL GRIN2A ACCEPTOR SNP Somatic 15 0.646 SQHIGH 24 29 53 0 57 57 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 2903 16 9934661 9934661 91 ALL diagnosis snv MYH1 silent K638K NM_005963 10-PAPLDL MYH1 SYNONYMOUS SNP Somatic 4 0.165 SQHIGH 21 18 39 0 36 36 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 4619 17 10411257 10411257 75 ALL diagnosis snv SLFN5 missense R782Q NM_144975 10-PAPLDL SLFN5 MISSENSE SNP Somatic 3 0.150 SQHIGH 13 45 58 0 76 76 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 162394 17 33592576 33592576 51 ALL diagnosis snv CCL15-CCL14 EXON E1_exon NM_032965 10-PAPLDL CCL15|CCL14-CCL15 UTR5|UTR SNP Somatic 19 0.950 SQHIGH 19 20 39 0 38 38 Cosmic_Gene C C A C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 6359|348249 17 34328599 34328599 69 ALL diagnosis snv DSG2 silent S999S NM_001943 10-PAPLDL LOC100652770|DSG2 INTRON|SYNONYMOUS SNP Somatic 10 0.327 SQHIGH 32 40 72 0 59 59 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 100652770|1829 18 29126346 29126346 101 ALL diagnosis snv BEST2 splice_region V239_E6splice_region NM_017682 10-PAPLDL BEST2 ACCEPTOR SNP Somatic 17 0.841 SQHIGH 15 17 32 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 54831 19 12866422 12866422 59 ALL diagnosis snv CYP4F11 silent F127F NM_021187 10-PAPLDL CYP4F11 SYNONYMOUS SNP Somatic PFAM:PF00067:p450 7 0.233 SQHIGH 24 52 76 0 54 54 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 57834 19 16038256 16038256 64 ALL diagnosis snv ZC3H4 missense P737S NM_015168 10-PAPLDL ZC3H4 MISSENSE SNP Somatic 13 0.477 SQHIGH 24 30 54 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 23211 19 47572538 47572538 71 ALL diagnosis snv ZNF334 missense E629K NM_018102 10-PAPLDL ZNF334 MISSENSE SNP Somatic 10 0.327 SQHIGH 26 23 49 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 55713 20 45130093 45130093 78 ALL diagnosis snv DSCAM-AS1 EXON E3_exon NM_001389 10-PAPLDL DSCAM|DSCAM-AS1 INTRON|INTRON,UTR SNP Somatic -2 0.093 SQHIGH 16 90 106 0 61 61 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 1826|100506492 21 41755367 41755367 34 ALL diagnosis snv CRELD2 missense A285V NM_001135101 10-PAPLDL ALG12|CRELD2 TSS-UPSTREAM|MISSENSE SNP Somatic 13 0.477 SQHIGH 11 11 22 0 23 23 C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 79087|79174 22 50316900 50316900 42 ALL diagnosis snv FAM47C silent S416S NM_001013736 10-PAPLDL FAM47C SYNONYMOUS SNP Somatic 7 0.233 SQHIGH 9 29 38 0 39 39 Cosmic_Gene G G A G G TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 442444 X 37027731 37027731 30 ALL diagnosis snv ARMCX3 missense I144T NM_016607 10-PAPLDL ARMCX3|ARMCX3-AS1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF04826:DUF634 -5 0.071 SQHIGH 8 45 53 0 60 60 Cosmic_Gene T T C T T TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 51566|100128574 X 100880400 100880400 28 ALL diagnosis snv SPANXN2 missense E84K NM_001009615 10-PAPLDL SPANXN2 MISSENSE SNP Somatic PFAM:PF07458:SPAN-X 13 0.477 SQHIGH 18 14 32 0 46 46 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 494119 X 142795428 142795428 87 ALL diagnosis snv L1CAM silent R1094R NM_000425 10-PAPLDL L1CAM SYNONYMOUS SNP Somatic 11 0.368 SQHIGH 27 8 35 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 3897 X 153129817 153129817 129 ALL diagnosis mnv CEP112 missense Q805M NM_145036 10-PAPLDL CEP112 MISSENSE Sub Somatic 4 0.912 SQHIGH 22 21 43 0 48 48 TG TG AT TG TG TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 201134 17 63746823 63746824 88 ALL relapse snv RFX8 splice_region M61_E3splice_region NM_001145664 10-PAPLDM RFX8 DONOR SNP Somatic 17 0.848 SQHIGH 11 23 34 0 35 35 A A G A A TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 731220 2 102038818 102038818 38 ALL relapse snv SETD2 nonsense C574* NM_014159 10-PAPLDM SETD2 NONSENSE SNP Somatic 1 0.151 SQHIGH 4 11 15 0 26 26 Cosmic_Gene A A T A A TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 29072 3 47164404 47164404 19 ALL relapse snv CDH9 silent G54G NM_016279 10-PAPLDM CDH9 SYNONYMOUS SNP Somatic -8 0.067 SQHIGH 3 4 7 0 14 14 Cosmic_Gene G G A G G TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 1007 5 26988279 26988279 16 ALL relapse snv TRPC7 missense V86M NM_020389 10-PAPLDM TRPC7 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 11 0.432 SQHIGH 21 30 51 0 67 67 C C T C C TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 57113 5 135692820 135692820 89 ALL relapse snv KDELR2 silent A167A NM_001100603 10-PAPLDM KDELR2 UTR3,SYNONYMOUS SNP Somatic -1 0.124 SQHIGH 3 17 20 0 37 37 Cosmic_Gene T T A T T TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 11014 7 6502657 6502657 14 ALL relapse snv MUC17 missense T3505S NM_001040105 10-PAPLDM MUC17 MISSENSE SNP Somatic -9 0.062 SQHIGH 5 23 28 0 23 23 Cosmic_Gene A A T A A TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 140453 7 100685210 100685210 14 ALL relapse snv SND1 missense E754K NM_014390 10-PAPLDM SND1 MISSENSE SNP Somatic PFAM:PF00567:TUDOR 16 0.754 SQHIGH 45 48 93 0 101 101 Cosmic_Gene G G A G G TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 27044 7 127725788 127725788 176 ALL relapse snv ST3GAL1 missense G224S NM_003033 10-PAPLDM ST3GAL1 MISSENSE SNP Somatic PFAM:PF00777:Glyco_transf_29 8 0.316 SQHIGH 26 38 64 0 65 65 C C T C C TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 6482 8 134477034 134477034 93 ALL relapse snv CUZD1 silent D94D NM_022034 10-PAPLDM CUZD1|FAM24B-CUZD1 SYNONYMOUS,UTR|UTR SNP dbsnp.134:rs141440856 Somatic -17 0.029 6 53 59 0 69 69 COSMIC:mut:79712 Cosmic_Gene G G A G G TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 50624|100533195 10 124598699 124598699 21 ALL relapse snv PTPN11 missense E76G NM_002834 10-PAPLDM PTPN11 MISSENSE SNP dbsnp.133:rs121918465 Somatic 17 0.848 SQHIGH 25 24 49 1 39 40 COSMIC:mut:13017 Cosmic_Gene A A G A A TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 5781 12 112888211 112888211 69 ALL relapse snv CREBBP missense R1446H NM_004380 10-PAPLDM CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 9 0.349 SQHIGH 19 21 40 1 33 34 COSMIC:mut:88748 Cosmic_Gene C C T C C TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 1387 16 3788617 3788617 51 ALL relapse snv NBR1 silent P110P NM_001291571 10-PAPLDM NBR1 SYNONYMOUS SNP Somatic 1 0.151 SQHIGH 5 15 20 0 18 18 Cosmic_Gene A A C A A TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 4077 17 41338389 41338389 15 ALL relapse snv MC2R missense V236A NM_000529 10-PAPLDM MC2R MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 4 0.204 SQHIGH 28 59 87 0 68 68 Cosmic_Gene A A G A A TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 4158 18 13884811 13884811 80 ALL relapse snv ATP8B1 splice_region A210_E8splice_region NM_005603 10-PAPLDM ATP8B1 ACCEPTOR SNP Somatic -6 0.080 SQHIGH 10 19 29 1 21 22 Cosmic_Gene A A C A A TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 5205 18 55364929 55364929 20 ALL relapse snv SBNO2 missense V385M NM_014963 10-PAPLDM SBNO2 MISSENSE SNP Somatic PFAM:PF00485:PRK 12 0.482 SQHIGH 37 50 87 0 99 99 C C T C C TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 22904 19 1120019 1120019 145 ALL relapse snv C3 missense V1252I NM_000064 10-PAPLDM C3 MISSENSE SNP Somatic PFAM:PF07678:A2M_comp 2 0.167 SQHIGH 36 66 102 1 83 84 Cosmic_Gene C C T C C TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 718 19 6686191 6686191 96 ALL diagnosis snv NEXN-AS1 EXON E1_exon NM_144573 10-PAPLDM NEXN-AS1|NEXN UTR|UTR5 SNP Somatic 11 0.439 SQHIGH 13 22 35 0 52 52 Cosmic_Gene T T A T T TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 374987|91624 1 78354344 78354344 58 ALL diagnosis snv NRAS missense G13D NM_002524 10-PAPLDM NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 13 0.543 SQHIGH 12 26 38 1 52 53 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 4893 1 115258744 115258744 41 ALL diagnosis snv DDR2 missense E262K NM_001014796 10-PAPLDM DDR2 MISSENSE SNP Somatic 5 0.228 SQHIGH 12 19 31 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 4921 1 162729698 162729698 41 ALL diagnosis snv BOLA3 splice_region Q86_E3splice_region NM_212552 10-PAPLDM BOLA3 INTRON,DONOR SNP Somatic 10 0.393 SQHIGH 7 21 28 1 34 35 C C A C C TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 388962 2 74369394 74369394 19 ALL diagnosis snv PTPRG missense V322I NM_002841 10-PAPLDM PTPRG MISSENSE SNP Somatic 9 0.354 SQHIGH 19 26 45 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 5793 3 62153768 62153768 52 ALL diagnosis snv SPATA18 missense T32M NM_145263 10-PAPLDM SPATA18 MISSENSE SNP Somatic 4 0.206 SQHIGH 17 67 84 0 67 67 Cosmic_Gene C C T C C TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 132671 4 52926592 52926592 47 ALL diagnosis snv TENM2 missense R33H NM_001122679 10-PAPLDM TENM2 MISSENSE SNP Somatic PFAM:PF06484:Ten_N 2 0.168 SQHIGH 16 26 42 1 53 54 Cosmic_Gene G G A G G TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 57451 5 166711940 166711940 55 ALL diagnosis snv SEMA4G missense R291H NM_017893 10-PAPLDM MRPL43|SEMA4G UTR3|MISSENSE SNP Somatic PFAM:PF01403:Sema 5 0.228 SQHIGH 21 51 72 1 81 82 Cosmic_Gene G G A G G TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 84545|57715 10 102738917 102738917 66 ALL diagnosis snv CREBBP missense R1446H NM_004380 10-PAPLDM CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 -30 0.006 5 41 46 1 33 34 COSMIC:mut:88748 Cosmic_Gene C C T C C TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 1387 16 3788617 3788617 7 ALL diagnosis snv TNP2 missense R131Q NM_005425 10-PAPLDM TNP2 MISSENSE SNP Somatic PFAM:PF01254:TP2 -6 0.079 SQHIGH 11 18 30 0 33 33 C C T C C TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 7142 16 11362728 11362728 42 ALL diagnosis snv TXNDC11 missense R104K NM_015914 10-PAPLDM TXNDC11 MISSENSE SNP Somatic -5 0.085 SQHIGH 5 41 46 0 43 43 C C T C C TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 51061 16 11830033 11830033 15 ALL diagnosis snv BRCA1 splice F1662_E15splice NM_007294 10-PAPLDM BRCA1 DISRUPT SNP Somatic 6 0.263 SQHIGH 19 44 63 0 35 35 Cosmic_Gene C C A C C TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 672 17 41222944 41222944 42 ALL diagnosis snv ZBTB7A missense E277D NM_015898 10-PAPLDM ZBTB7A MISSENSE SNP Somatic -6 0.079 SQHIGH 11 13 24 0 20 20 Cosmic_Gene C C A C C TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 51341 19 4054400 4054400 35 ALL relapse snv ITGA10 missense T1092S NM_003637 10-PAPLTZ ITGA10 MISSENSE SNP Somatic 0 0.124 SQHIGH 8 36 44 0 54 54 Cosmic_Gene C C G C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 8515 1 145541487 145541487 29 ALL relapse snv INTS7 missense V417L NM_015434 10-PAPLTZ INTS7 MISSENSE,UTR SNP Somatic 11 0.386 SQHIGH 21 29 50 0 62 62 C C A C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 25896 1 212151835 212151835 86 ALL relapse snv USH2A missense T2272M NM_206933 10-PAPLTZ USH2A MISSENSE SNP Somatic PFAM:PF00041:fn3 0 0.124 SQHIGH 8 41 49 0 54 54 Cosmic_Gene G G A G G TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 7399 1 216144109 216144109 27 ALL relapse snv KCNJ3 missense L176P NM_002239 10-PAPLTZ KCNJ3 MISSENSE SNP Somatic PFAM:PF07885:Ion_trans_2 17 0.851 SQHIGH 29 18 47 0 58 58 Cosmic_Gene T T C T T TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 3760 2 155555814 155555814 132 ALL relapse snv FSIP2 missense Q2585H NM_173651 10-PAPLTZ FSIP2 MISSENSE SNP Somatic 14 0.569 SQHIGH 16 21 37 0 34 34 A A C A A TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 401024 2 186659351 186659351 54 ALL relapse snv EHHADH missense A641D NM_001966 10-PAPLTZ EHHADH MISSENSE SNP Somatic PFAM:PF00725:3HCDH 6 0.225 SQHIGH 24 57 81 0 70 70 Cosmic_Gene G G T G G TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 1962 3 184910264 184910264 73 ALL relapse snv PCGF3 silent N12N NM_006315 10-PAPLTZ PCGF3 SYNONYMOUS SNP Somatic -6 0.075 SQHIGH 9 52 61 0 54 54 C C T C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 10336 4 727505 727505 26 ALL relapse snv SLIT2 missense G890R NM_004787 10-PAPLTZ SLIT2 MISSENSE SNP Somatic 6 0.225 SQHIGH 14 19 33 0 22 22 Cosmic_Gene G G A G G TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 9353 4 20555534 20555534 37 ALL relapse snv SLC34A1 missense E438Q NM_003052 10-PAPLTZ SLC34A1 MISSENSE SNP Somatic PFAM:PF02690:Na_Pi_cotrans 0 0.124 SQHIGH 10 34 44 0 40 40 Cosmic_Gene G G C G G TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 6569 5 176823971 176823971 30 ALL relapse snv KMT2C missense G3819R NM_170606 10-PAPLTZ KMT2C MISSENSE SNP Somatic -8 0.065 SQHIGH 5 19 24 0 31 31 Cosmic_Gene C C T C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 58508 7 151859207 151859207 19 ALL relapse snv CPNE3 silent A381A NM_003909 10-PAPLTZ CPNE3 SYNONYMOUS SNP dbsnp.134:rs147000050 Somatic 6 0.225 SQHIGH 17 39 56 0 39 39 Cosmic_Gene G G A G G TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 8895 8 87567101 87567101 44 ALL relapse snv RFX3 missense Q126K NM_002919 10-PAPLTZ RFX3 MISSENSE SNP Somatic PFAM:PF04589:RFX1_trans_act 13 0.493 SQHIGH 8 9 17 0 22 22 Cosmic_Gene G G T G G TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 5991 9 3330357 3330357 34 ALL relapse snv MPDZ missense R1772T NM_001261406 10-PAPLTZ MPDZ INTRON SNP Somatic -10 0.056 SQHIGH 3 16 19 0 31 31 Cosmic_Gene C C G C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 8777 9 13115299 13115299 13 ALL relapse snv SEC23IP missense G11C NM_007190 10-PAPLTZ SEC23IP MISSENSE,UTR SNP Somatic -9 0.060 SQHIGH 5 12 17 0 24 24 Cosmic_Gene G G T G G TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 11196 10 121652325 121652325 21 ALL relapse snv OR51B5 silent L258L NM_001005567 10-PAPLTZ OR51B5 SYNONYMOUS,INTRON SNP Somatic PFAM:PF00001:7tm_1 14 0.569 SQHIGH 24 26 50 0 61 61 Cosmic_Gene C C T C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 282763 11 5363981 5363981 100 ALL relapse snv KIF21A missense R1025Q NM_017641 10-PAPLTZ KIF21A MISSENSE SNP Somatic -10 0.056 SQHIGH 4 19 23 0 33 33 Cosmic_Gene C C T C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 55605 12 39725532 39725532 16 ALL relapse snv UGGT2 missense E510K NM_020121 10-PAPLTZ UGGT2 MISSENSE SNP Somatic 5 0.197 SQHIGH 9 17 26 1 26 27 Cosmic_Gene C C T C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 55757 13 96600263 96600263 23 ALL relapse snv TRIM9 missense F84L NM_015163 10-PAPLTZ TRIM9 MISSENSE SNP Somatic 14 0.569 SQHIGH 16 19 35 1 38 39 Cosmic_Gene A A G A A TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 114088 14 51561408 51561408 51 ALL relapse snv AQR missense G605R NM_014691 10-PAPLTZ AQR MISSENSE SNP Somatic 6 0.225 SQHIGH 6 16 22 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 9716 15 35198764 35198764 26 ALL relapse snv AQR missense D603N NM_014691 10-PAPLTZ AQR MISSENSE SNP Somatic 15 0.659 SQHIGH 9 11 20 0 36 36 Cosmic_Gene C C T C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 9716 15 35198770 35198770 47 ALL relapse snv AQR silent L601L NM_014691 10-PAPLTZ AQR SYNONYMOUS SNP Somatic 16 0.731 SQHIGH 9 15 24 0 41 41 Cosmic_Gene C C T C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 9716 15 35198774 35198774 44 ALL relapse snv CRAMP1L missense N330K NM_020825 10-PAPLTZ CRAMP1L MISSENSE SNP Somatic 17 0.851 SQHIGH 31 34 65 0 58 58 C C G C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 57585 16 1703110 1703110 105 ALL relapse snv NUDT16L1 missense A153V NM_001193452 10-PAPLTZ NUDT16L1 INTRON,MISSENSE SNP Somatic 0 0.124 SQHIGH 6 10 16 0 9 9 C C T C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 84309 16 4744283 4744283 13 ALL relapse snv LILRB2 nonsense Q330* NM_005874 10-PAPLTZ LILRB2|MIR4752 NONSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00047:ig -8 0.065 SQHIGH 6 25 31 0 17 17 Cosmic_Gene G G A G G TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 10288|100616171 19 54782384 54782384 12 ALL relapse snv ZNF471 missense F16L NM_020813 10-PAPLTZ ZNF471 MISSENSE SNP Somatic 18 0.893 SQHIGH 18 11 29 0 27 27 Cosmic_Gene C C G C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 57573 19 57027658 57027658 68 ALL relapse snv TGM6 missense D439E NM_198994 10-PAPLTZ TGM6 MISSENSE SNP Somatic 16 0.731 SQHIGH 22 26 48 0 54 54 Cosmic_Gene C C G C C TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 343641 20 2384450 2384450 86 ALL relapse complex SLC17A2 frameshift F351_D355fs NM_005835 10-PAPLTZ SLC17A2 SPAN3 Sub Somatic -10 0.263 SQHIGH 26 69 95 0 108 108 Cosmic_Gene TTACCAAGAGATGAAAA TTACCAAGAGATGAAAA TCG TTACCAAGAGATGAAAA TTACCAAGAGATGAAAA TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 10246 6 25915960 25915976 95 ALL relapse complex SLC17A2 frameshift V347_K349fs NM_005835 10-PAPLTZ SLC17A2 FRAMESHIFT Sub Somatic -10 0.263 SQHIGH 24 60 84 0 91 91 Cosmic_Gene GCTTTCGCAC GCTTTCGCAC GG GCTTTCGCAC GCTTTCGCAC TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 10246 6 25915979 25915988 85 ALL diagnosis snv THNSL2 silent H134H NM_018271 10-PAPLTZ THNSL2 SYNONYMOUS SNP dbsnp.134:rs149479181 Somatic -1 0.115 SQHIGH 11 42 53 0 68 68 Cosmic_Gene C C T C C TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 55258 2 88474336 88474336 42 ALL diagnosis snv XIRP2 missense C432S NM_001079810 10-PAPLTZ XIRP2 UTR3,MISSENSE SNP Somatic -5 0.081 SQHIGH 5 29 34 0 31 31 Cosmic_Gene G G C G G TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 129446 2 168110660 168110660 15 ALL diagnosis snv EHHADH missense A641D NM_001966 10-PAPLTZ EHHADH MISSENSE SNP Somatic PFAM:PF00725:3HCDH 4 0.179 SQHIGH 30 51 81 0 70 70 Cosmic_Gene G G T G G TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 1962 3 184910264 184910264 95 ALL diagnosis snv PDGFRA missense R558L NM_006206 10-PAPLTZ PDGFRA MISSENSE SNP Somatic 10 0.342 SQHIGH 7 22 29 0 28 28 Cosmic_Gene G G T G G TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 5156 4 55141027 55141027 22 ALL diagnosis snv GRID2 missense R692C NM_001510 10-PAPLTZ GRID2 MISSENSE SNP Somatic PFAM:PF00060:Lig_chan 2 0.150 SQHIGH 10 38 48 0 38 38 Cosmic_Gene C C T C C TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 2895 4 94436443 94436443 27 ALL diagnosis snv TBXAS1 missense A342T NM_001061 10-PAPLTZ TBXAS1 MISSENSE,UTR SNP Somatic PFAM:PF00067:p450 3 0.164 SQHIGH 14 39 53 0 63 63 Cosmic_Gene G G A G G TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 6916 7 139661919 139661919 52 ALL diagnosis snv FAM24B-CUZD1 EXON E1_exon NM_022034 10-PAPLTZ CUZD1|FAM24B-CUZD1 UTR5,UTR|UTR SNP Somatic -3 0.096 SQHIGH 8 40 48 0 48 48 Cosmic_Gene G G A G G TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 50624|100533195 10 124605461 124605461 25 ALL diagnosis snv AHNAK missense T5798R NM_001620 10-PAPLTZ AHNAK INTRON,MISSENSE SNP Somatic -38 0.001 4 22 26 0 35 35 Cosmic_Gene G G C G G TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 79026 11 62284496 62284496 15 ALL diagnosis snv DDX10 missense A113T NM_004398 10-PAPLTZ DDX10 MISSENSE SNP Somatic -10 0.056 SQHIGH 4 21 25 0 57 57 Cosmic_Gene G G A G G TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 1662 11 108546412 108546412 21 ALL diagnosis snv MAPK1IP1L missense P12S NM_144578 10-PAPLTZ MAPK1IP1L MISSENSE SNP Somatic -3 0.096 SQHIGH 10 27 37 0 34 34 C C T C C TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 93487 14 55529351 55529351 31 ALL diagnosis snv LOC388282 missense P168R NM_001278081 10-PAPLTZ LOC388282 UTR SNP Somatic -4 0.087 SQHIGH 13 46 59 1 50 51 C C G C C TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 388282 16 57849543 57849543 29 ALL diagnosis snv CA10 missense L196I NM_001082533 10-PAPLTZ CA10 MISSENSE SNP Somatic 7 0.248 SQHIGH 20 66 86 1 66 67 Cosmic_Gene G G T G G TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 56934 17 49726591 49726591 44 ALL diagnosis snv USP29 missense V595I NM_020903 10-PAPLTZ USP29 MISSENSE SNP dbsnp.134:rs141050797 Somatic 4 0.179 SQHIGH 13 46 59 0 43 43 Cosmic_Gene G G A G G TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 57663 19 57641826 57641826 34 ALL diagnosis complex MEGF6 proteinIns D374_C376>GAQG NM_001409 10-PAPLTZ MEGF6 INSERT+ Sub Somatic -10 0.255 SQHIGH 12 30 42 0 41 41 Cosmic_Gene CACAGTCGT CACAGTCGT CCCCTTGGGCCC CACAGTCGT CACAGTCGT TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 1953 1 3427452 3427460 39 ALL relapse snv ARHGEF10L missense N344T NM_018125 10-PAPLUG ARHGEF10L MISSENSE SNP Somatic 2 0.115 SQHIGH 17 57 74 0 73 73 Cosmic_Gene A A C A A TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 55160 1 17949501 17949501 55 ALL relapse snv MYOM3 splice_region W81_E4splice_region NM_152372 10-PAPLUG MYOM3 ACCEPTOR SNP Somatic 2 0.115 SQHIGH 16 56 72 0 69 69 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 127294 1 24433730 24433730 51 ALL relapse snv SLC30A2 silent L121L NM_001004434 10-PAPLUG SLC30A2 SYNONYMOUS,INTRON SNP Somatic PFAM:PF01545:Cation_efflux -2 0.078 SQHIGH 22 90 112 0 105 105 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 7780 1 26370844 26370844 68 ALL relapse snv RPS6KA1 missense D477H NM_002953 10-PAPLUG RPS6KA1 MISSENSE SNP Somatic PFAM:PF03109:ABC1 1 0.104 SQHIGH 12 49 61 0 48 48 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6195 1 26887623 26887623 33 ALL relapse snv CPT2 missense D407N NM_000098 10-PAPLUG CPT2 MISSENSE SNP Somatic PFAM:PF00755:Carn_acyltransf 4 0.142 SQHIGH 16 53 69 0 73 73 G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1376 1 53676565 53676565 55 ALL relapse snv COL11A1 missense E435Q NM_001854 10-PAPLUG COL11A1 MISSENSE SNP Somatic 1 0.104 SQHIGH 7 27 34 0 28 28 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1301 1 103487268 103487268 20 ALL relapse snv AP4B1-AS1 EXON E5_exon NM_006594 10-PAPLUG DCLRE1B|LOC100287722|AP4B1 TSS-UPSTREAM|UTR|INTRON SNP Somatic 4 0.142 SQHIGH 11 41 52 0 61 61 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 64858|100287722|10717 1 114443404 114443404 40 ALL relapse snv CTSK missense E63Q NM_000396 10-PAPLUG CTSK MISSENSE SNP Somatic PFAM:PF08246:Inhibitor_I29 5 0.159 SQHIGH 15 40 55 0 67 67 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1513 1 150778634 150778634 57 ALL relapse snv LINGO4 silent L96L NM_001004432 10-PAPLUG LINGO4 SYNONYMOUS SNP Somatic 6 0.190 SQHIGH 20 69 89 0 80 80 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 339398 1 151774893 151774893 61 ALL relapse snv KPRP missense V35M NM_001025231 10-PAPLUG KPRP MISSENSE SNP Somatic 4 0.142 SQHIGH 17 48 67 1 85 86 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 448834 1 152732167 152732167 57 ALL relapse snv S100A1 missense S20L NM_006271 10-PAPLUG CHTOP|S100A13|S100A1 TSS-UPSTREAM|INTRON,TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01023:S_100 -10 0.042 SQHIGH 9 47 56 1 38 39 C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 26097|6284|6271 1 153603056 153603056 15 ALL relapse snv DENND4B missense S1112L NM_014856 10-PAPLUG DENND4B MISSENSE SNP Somatic 5 0.159 SQHIGH 20 41 61 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9909 1 153905791 153905791 71 ALL relapse snv RUSC1 missense S108C NM_001105203 10-PAPLUG RUSC1|RUSC1-AS1 TSS-UPSTREAM,MISSENSE|INTRON SNP Somatic 4 0.142 SQHIGH 13 49 62 0 85 85 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23623|284618 1 155291887 155291887 52 ALL relapse snv TNN missense K400N NM_022093 10-PAPLUG TNN MISSENSE SNP Somatic -5 0.061 SQHIGH 9 68 77 0 75 75 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 63923 1 175053037 175053037 28 ALL relapse snv KCTD3 missense S119C NM_016121 10-PAPLUG KCTD3 MISSENSE SNP Somatic -1 0.086 SQHIGH 8 38 46 0 42 42 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 51133 1 215751383 215751383 24 ALL relapse snv PARP1 missense E883Q NM_001618 10-PAPLUG PARP1 MISSENSE SNP Somatic -4 0.066 SQHIGH 5 28 33 0 46 46 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 142 1 226552714 226552714 20 ALL relapse snv ABCB10 nonsense S277* NM_012089 10-PAPLUG ABCB10 NONSENSE SNP Somatic PFAM:PF00664:ABC_membrane -1 0.086 SQHIGH 11 45 56 0 80 80 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23456 1 229683337 229683337 45 ALL relapse snv PGBD5 missense D455N NM_001258311 10-PAPLUG PGBD5 MISSENSE SNP Somatic -6 0.057 SQHIGH 11 51 62 0 55 55 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 79605 1 230461072 230461072 32 ALL relapse snv TARBP1 missense S1469L NM_005646 10-PAPLUG TARBP1 MISSENSE SNP Somatic PFAM:PF00588:SpoU_methylase -1 0.086 SQHIGH 8 29 37 0 35 35 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6894 1 234529421 234529421 25 ALL relapse snv PGBD2 missense L248F NM_170725 10-PAPLUG PGBD2 UTR5,MISSENSE SNP Somatic -5 0.061 SQHIGH 10 67 77 0 79 79 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 267002 1 249211525 249211525 32 ALL relapse snv MYCN silent G57G NM_001293233 10-PAPLUG MYCNOS|MYCN TSS-UPSTREAM|UTR5 SNP Somatic -8 0.048 SQHIGH 6 18 24 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 10408|4613 2 16082083 16082083 22 ALL relapse snv SUPT7L missense M411I NM_014860 10-PAPLUG SUPT7L MISSENSE SNP Somatic 6 0.190 SQHIGH 19 87 106 0 93 93 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9913 2 27876364 27876364 56 ALL relapse snv HEATR5B missense K576N NM_019024 10-PAPLUG HEATR5B MISSENSE SNP Somatic -6 0.057 SQHIGH 6 31 37 0 27 27 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 54497 2 37287845 37287845 15 ALL relapse snv DHX57 missense H34D NM_198963 10-PAPLUG DHX57 MISSENSE SNP Somatic 5 0.159 SQHIGH 7 30 37 0 31 31 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 90957 2 39095448 39095448 20 ALL relapse snv FOXN2 silent L405L NM_002158 10-PAPLUG FOXN2 SYNONYMOUS SNP Somatic -10 0.042 SQHIGH 7 56 63 0 48 48 C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 3344 2 48602501 48602501 18 ALL relapse snv ETAA1 silent P62P NM_019002 10-PAPLUG ETAA1 SYNONYMOUS SNP Somatic -7 0.053 SQHIGH 11 32 43 2 38 40 Cosmic_Gene T T G T T TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 54465 2 67624766 67624766 20 ALL relapse snv ALMS1 missense S2529L NM_015120 10-PAPLUG ALMS1 MISSENSE SNP Somatic -3 0.071 SQHIGH 5 26 31 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 7840 2 73682337 73682337 15 ALL relapse snv STAMBP splice_region E373_E9splice_region NM_006463 10-PAPLUG STAMBP DONOR SNP Somatic -7 0.053 SQHIGH 8 29 37 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 10617 2 74086496 74086496 23 ALL relapse snv NCKAP5 silent S379S NM_207363 10-PAPLUG NCKAP5 SYNONYMOUS,INTRON SNP Somatic 6 0.190 SQHIGH 18 38 56 0 64 64 C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 344148 2 133543247 133543247 67 ALL relapse snv KYNU missense R399P NM_003937 10-PAPLUG KYNU MISSENSE SNP Somatic PFAM:PF03841:SelA 1 0.104 SQHIGH 11 36 47 0 54 54 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 8942 2 143798151 143798151 40 ALL relapse snv RIF1 missense S1829F NM_018151 10-PAPLUG RIF1 MISSENSE SNP Somatic 7 0.217 SQHIGH 12 31 43 0 52 52 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 55183 2 152321520 152321520 46 ALL relapse snv FIGN nonsense S714* NM_018086 10-PAPLUG FIGN NONSENSE SNP Somatic PFAM:PF09336:Vps4_C 7 0.217 SQHIGH 22 66 88 0 74 74 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 55137 2 164466201 164466201 64 ALL relapse snv SCN7A missense L1641F NM_002976 10-PAPLUG SCN7A MISSENSE SNP Somatic 10 0.317 SQHIGH 11 37 48 0 56 56 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6332 2 167262216 167262216 40 ALL relapse snv CCDC150 splice_region K192_E4splice_region NM_001080539 10-PAPLUG CCDC150 DONOR SNP Somatic 6 0.190 SQHIGH 11 25 36 0 37 37 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 284992 2 197521865 197521865 38 ALL relapse snv LANCL1 missense E353Q NM_006055 10-PAPLUG LANCL1 MISSENSE SNP Somatic 9 0.279 SQHIGH 10 31 41 0 29 29 C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 10314 2 211300177 211300177 25 ALL relapse snv GPBAR1 missense G108R NM_001077191 10-PAPLUG GPBAR1 MISSENSE SNP Somatic -6 0.057 SQHIGH 10 42 52 0 59 59 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 151306 2 219127769 219127769 35 ALL relapse snv COL4A3 silent G916G NM_000091 10-PAPLUG LOC654841|COL4A3 INTRON|SYNONYMOUS SNP Somatic 1 0.104 SQHIGH 11 35 46 0 44 44 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 654841|1285 2 228148928 228148928 35 ALL relapse snv SP100 missense R837P NM_003113 10-PAPLUG SP100 INTRON,MISSENSE SNP Somatic 2 0.115 SQHIGH 15 70 85 0 85 85 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6672 2 231380225 231380225 48 ALL relapse snv DIS3L2 silent I181I NM_152383 10-PAPLUG DIS3L2 SYNONYMOUS SNP Somatic -7 0.053 SQHIGH 8 47 55 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 129563 2 232952373 232952373 19 ALL relapse snv SH3BP4 missense R880W NM_014521 10-PAPLUG SH3BP4 MISSENSE SNP dbsnp.134:rs142168098 Somatic 0 0.094 SQHIGH 13 44 57 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23677 2 235961365 235961365 32 ALL relapse snv NR2C2 splice I111_E5splice NM_003298 10-PAPLUG NR2C2 ACCEPTOR SNP Somatic 0 0.094 SQHIGH 10 47 57 0 88 88 C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 7182 3 15057656 15057656 43 ALL relapse snv ITGA9 splice_region N345_E9splice_region NM_002207 10-PAPLUG ITGA9 DONOR SNP Somatic -2 0.078 SQHIGH 13 51 64 0 61 61 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 3680 3 37555394 37555394 41 ALL relapse snv ZNF619 silent L133L NM_001145082 10-PAPLUG ZNF619 SYNONYMOUS,UTR SNP Somatic 2 0.115 SQHIGH 8 26 34 0 47 47 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 285267 3 40524179 40524179 32 ALL relapse snv KIAA1143 missense E34D NM_020696 10-PAPLUG KIAA1143|KIF15 MISSENSE|TSS-UPSTREAM SNP Somatic -2 0.078 SQHIGH 22 88 110 0 67 67 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 57456|56992 3 44802993 44802993 49 ALL relapse snv CCDC51 missense E106Q NM_024661 10-PAPLUG CCDC51|PLXNB1 MISSENSE|TSS-UPSTREAM SNP Somatic 2 0.115 SQHIGH 31 104 135 0 96 96 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 79714|5364 3 48475278 48475278 79 ALL relapse snv RBM6 missense S102F NM_005777 10-PAPLUG RBM6 INTRON,MISSENSE SNP Somatic 0 0.094 SQHIGH 12 65 77 0 73 73 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 10180 3 50005163 50005163 37 ALL relapse snv FAM107A missense R22K NM_007177 10-PAPLUG FAM107A MISSENSE SNP Somatic PFAM:PF06625:DUF1151 7 0.217 SQHIGH 21 59 80 0 65 65 C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 11170 3 58555523 58555523 60 ALL relapse snv SLITRK3 missense S654C NM_014926 10-PAPLUG SLITRK3 MISSENSE SNP Somatic 0 0.094 SQHIGH 8 37 45 0 42 42 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 22865 3 164906658 164906658 24 ALL relapse snv TNIK splice_region E407_E12splice_region NM_015028 10-PAPLUG TNIK DONOR SNP Somatic 2 0.115 SQHIGH 35 81 116 0 99 99 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23043 3 170875246 170875246 106 ALL relapse snv FBXL5 missense S634C NM_012161 10-PAPLUG FBXL5 MISSENSE,UTR SNP Somatic 12 0.417 SQHIGH 10 13 23 0 17 17 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 26234 4 15613987 15613987 29 ALL relapse snv GABRA2 missense F331L NM_001286827 10-PAPLUG GABRA2 INTRON SNP Somatic 7 0.217 SQHIGH 13 31 44 0 51 51 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 2555 4 46258293 46258293 48 ALL relapse snv AMBN splice_region Q98_E5splice_region NM_016519 10-PAPLUG AMBN DONOR SNP Somatic 12 0.417 SQHIGH 8 19 27 0 26 26 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 258 4 71465366 71465366 26 ALL relapse snv CYP2U1 missense D242H NM_183075 10-PAPLUG CYP2U1 MISSENSE SNP Somatic PFAM:PF00067:p450 7 0.217 SQHIGH 9 19 28 0 43 43 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 113612 4 108866359 108866359 40 ALL relapse snv PRMT9 missense S705L NM_138364 10-PAPLUG PRMT9 MISSENSE SNP Somatic 9 0.279 SQHIGH 9 22 31 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 90826 4 148564023 148564023 34 ALL relapse snv FGG missense R301C NM_021870 10-PAPLUG FGG MISSENSE SNP dbsnp.133:rs121913087 Somatic 3 0.127 SQHIGH 13 52 65 0 60 60 G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 2266 4 155528085 155528085 40 ALL relapse snv WWC2 missense E943Q NM_024949 10-PAPLUG WWC2 MISSENSE SNP Somatic -4 0.066 SQHIGH 9 35 44 0 57 57 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 80014 4 184204003 184204003 35 ALL relapse snv DROSHA missense I387M NM_013235 10-PAPLUG DROSHA MISSENSE SNP Somatic 6 0.190 SQHIGH 17 53 70 0 66 66 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 29102 5 31515224 31515224 54 ALL relapse snv ITGA1 missense M674I NM_181501 10-PAPLUG ITGA1 MISSENSE SNP Somatic PFAM:PF08441:Integrin_alpha2 -3 0.071 SQHIGH 10 52 62 0 46 46 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 3672 5 52214595 52214595 26 ALL relapse snv BHMT2 missense D145H NM_017614 10-PAPLUG BHMT2 INTRON,MISSENSE SNP Somatic PFAM:PF02574:S-methyl_trans 7 0.217 SQHIGH 16 60 76 1 59 60 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23743 5 78376684 78376684 34 ALL relapse snv RASA1 missense S987C NM_002890 10-PAPLUG RASA1 MISSENSE SNP Somatic -7 0.053 SQHIGH 8 38 46 0 32 32 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 5921 5 86685244 86685244 20 ALL relapse snv ARAP3 splice_region L1113_E24splice_region NM_022481 10-PAPLUG ARAP3 ACCEPTOR SNP Somatic 2 0.115 SQHIGH 16 66 82 0 70 70 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 64411 5 141038228 141038228 46 ALL relapse snv NR3C1 missense F444L NM_000176 10-PAPLUG NR3C1 MISSENSE SNP Somatic -1 0.086 SQHIGH 11 38 49 1 40 41 Cosmic_Gene G G T G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 2908 5 142693586 142693586 23 ALL relapse snv RANBP17 splice R1057_E28splice NM_022897 10-PAPLUG RANBP17 DISRUPT SNP Somatic 4 0.142 SQHIGH 12 56 68 0 59 59 Cosmic_Gene G G T G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 64901 5 170725765 170725765 35 ALL relapse snv SH3PXD2B missense D210H NM_001017995 10-PAPLUG SH3PXD2B MISSENSE SNP Somatic -1 0.086 SQHIGH 9 38 47 0 61 61 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 285590 5 171785816 171785816 35 ALL relapse snv TRIM15 missense K323N NM_033229 10-PAPLUG TRIM15 MISSENSE SNP Somatic 4 0.142 SQHIGH 19 39 58 0 46 46 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 89870 6 30139697 30139697 55 ALL relapse snv TRIM15 missense D327H NM_033229 10-PAPLUG TRIM15 MISSENSE SNP Somatic 17 0.878 SQHIGH 12 36 48 0 45 45 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 89870 6 30139707 30139707 38 ALL relapse snv ZBTB22 missense E373Q NM_005453 10-PAPLUG TAPBP|ZBTB22 TSS-UPSTREAM|MISSENSE SNP Somatic -10 0.042 SQHIGH 8 50 58 0 52 52 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6892|9278 6 33283577 33283577 23 ALL relapse snv DAXX missense S429C NM_001141969 10-PAPLUG DAXX|ZBTB22 MISSENSE,UTR|TSS-UPSTREAM SNP Somatic PFAM:PF03344:Daxx 11 0.363 SQHIGH 8 31 39 0 58 58 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1616|9278 6 33287967 33287967 34 ALL relapse snv DAXX missense S247L NM_001141969 10-PAPLUG DAXX|ZBTB22 MISSENSE,UTR|TSS-UPSTREAM SNP Somatic PFAM:PF03344:Daxx 1 0.104 SQHIGH 14 53 67 0 55 55 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1616|9278 6 33288812 33288812 39 ALL relapse snv RPL10A splice_region K161_E5splice_region NM_007104 10-PAPLUG RPL10A DONOR SNP Somatic 5 0.159 SQHIGH 19 86 105 1 110 111 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 4736 6 35438131 35438131 53 ALL relapse snv LGSN missense P128R NM_016571 10-PAPLUG LGSN MISSENSE SNP Somatic PFAM:PF03951:Gln-synt_N 3 0.127 SQHIGH 8 27 35 0 29 29 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 51557 6 63991073 63991073 23 ALL relapse snv MB21D1 silent V438V NM_138441 10-PAPLUG MB21D1 SYNONYMOUS SNP Somatic PFAM:PF03281:Mab-21 1 0.104 SQHIGH 7 26 33 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 115004 6 74135205 74135205 23 ALL relapse snv NT5DC1 splice_region G235_E7splice_region NM_152729 10-PAPLUG NT5DC1 INTRON SNP Somatic -8 0.048 SQHIGH 5 36 41 0 51 51 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 221294 6 116542401 116542401 18 ALL relapse snv PTPRK silent T1019T NM_001135648 10-PAPLUG PTPRK SYNONYMOUS SNP Somatic 3 0.127 SQHIGH 7 30 37 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 5796 6 128311971 128311971 19 ALL relapse snv LAMA2 missense E1613Q NM_000426 10-PAPLUG LAMA2 MISSENSE SNP Somatic PFAM:PF06008:Laminin_I -9 0.045 SQHIGH 5 27 32 0 34 34 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 3908 6 129687483 129687483 16 ALL relapse snv NHSL1 silent E702E NM_020464 10-PAPLUG NHSL1 SYNONYMOUS SNP Somatic 3 0.127 SQHIGH 12 39 51 0 53 53 C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 57224 6 138753388 138753388 40 ALL relapse snv RGS17 missense E108K NM_012419 10-PAPLUG RGS17 MISSENSE SNP Somatic 2 0.115 SQHIGH 11 44 55 1 57 58 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 26575 6 153345519 153345519 28 ALL relapse snv TFB1M missense F230L NM_016020 10-PAPLUG TFB1M|CLDN20 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00398:RrnaAD 1 0.104 SQHIGH 11 50 61 0 57 57 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 51106|49861 6 155581511 155581511 34 ALL relapse snv COL28A1 missense G398E NM_001037763 10-PAPLUG COL28A1 MISSENSE SNP Somatic 0 0.094 SQHIGH 9 34 43 0 31 31 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 340267 7 7516783 7516783 23 ALL relapse snv DGKB missense G537R NM_004080 10-PAPLUG DGKB MISSENSE SNP Somatic PFAM:PF00781:DAGK_cat 7 0.217 SQHIGH 6 16 22 0 23 23 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1607 7 14620490 14620490 20 ALL relapse snv PDE1C missense M422L NM_005020 10-PAPLUG PDE1C MISSENSE SNP Somatic PFAM:PF00233:PDEase_I 5 0.159 SQHIGH 14 46 60 0 68 68 Cosmic_Gene T T A T T TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 5137 7 31867927 31867927 50 ALL relapse snv SEMA3E missense Q483H NM_012431 10-PAPLUG SEMA3E MISSENSE SNP Somatic PFAM:PF01403:Sema 9 0.279 SQHIGH 8 16 24 0 20 20 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9723 7 83025963 83025963 24 ALL relapse snv RUNDC3B missense S346L NM_138290 10-PAPLUG RUNDC3B INTRON,MISSENSE SNP Somatic -5 0.061 SQHIGH 7 42 49 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 154661 7 87436717 87436717 18 ALL relapse snv ANKIB1 missense M157I NM_019004 10-PAPLUG ANKIB1 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 1 0.104 SQHIGH 10 47 57 0 47 47 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 54467 7 91936955 91936955 28 ALL relapse snv DLX5 nonsense Q186* NM_005221 10-PAPLUG DLX5 NONSENSE SNP Somatic 3 0.127 SQHIGH 14 64 78 0 66 66 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1749 7 96650362 96650362 40 ALL relapse snv SMURF1 missense I523M NM_020429 10-PAPLUG SMURF1 MISSENSE SNP Somatic 4 0.142 SQHIGH 11 39 50 0 42 42 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 57154 7 98638060 98638060 32 ALL relapse snv CYP3A43 missense E70Q NM_022820 10-PAPLUG CYP3A43 MISSENSE SNP Somatic PFAM:PF00067:p450 7 0.217 SQHIGH 16 46 62 0 66 66 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 64816 7 99436785 99436785 55 ALL relapse snv PPP1R3A missense R560T NM_002711 10-PAPLUG PPP1R3A MISSENSE SNP Somatic 4 0.142 SQHIGH 8 26 34 0 35 35 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 5506 7 113519468 113519468 27 ALL relapse snv NUP205 silent L410L NM_015135 10-PAPLUG NUP205 SYNONYMOUS SNP Somatic PFAM:PF11894:DUF3414 8 0.245 SQHIGH 11 31 42 1 38 39 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23165 7 135272334 135272334 26 ALL relapse snv PDIA4 missense M279I NM_004911 10-PAPLUG PDIA4 MISSENSE SNP Somatic 6 0.190 SQHIGH 24 61 85 0 89 89 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9601 7 148709080 148709080 83 ALL relapse snv SMARCD3 splice P181_E7splice NM_001003802 10-PAPLUG SMARCD3 ACCEPTOR SNP Somatic 3 0.127 SQHIGH 22 85 107 0 99 99 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6604 7 150939321 150939321 68 ALL relapse snv MCPH1 missense D147H NM_024596 10-PAPLUG MCPH1 INTRON,MISSENSE SNP Somatic -7 0.053 SQHIGH 6 37 43 0 49 49 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 79648 8 6296476 6296476 21 ALL relapse snv AP3M2 missense S261C NM_001134296 10-PAPLUG AP3M2 MISSENSE SNP Somatic PFAM:PF00928:Adap_comp_sub -5 0.061 SQHIGH 7 38 45 0 37 37 C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 10947 8 42023057 42023057 19 ALL relapse snv NIPAL2 silent L22L NM_024759 10-PAPLUG NIPAL2 SYNONYMOUS SNP Somatic 3 0.127 SQHIGH 13 51 64 0 67 67 C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 79815 8 99306300 99306300 43 ALL relapse snv UBR5 missense R2293L NM_015902 10-PAPLUG UBR5 MISSENSE SNP Somatic 10 0.317 SQHIGH 12 31 43 0 54 54 Cosmic_Gene C C A C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 51366 8 103284852 103284852 47 ALL relapse snv C8orf76 missense S284L NM_032847 10-PAPLUG ZHX1-C8ORF76|C8orf76 MISSENSE|MISSENSE SNP Somatic 5 0.159 SQHIGH 18 40 58 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 100533106|84933 8 124238837 124238837 47 ALL relapse snv MROH6 silent L478L NM_001100878 10-PAPLUG MROH6 SYNONYMOUS SNP Somatic -3 0.071 SQHIGH 9 19 28 0 22 22 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 642475 8 144651653 144651653 26 ALL relapse snv RECQL4 missense P299S NM_004260 10-PAPLUG LRRC14|RECQL4 TSS-UPSTREAM|MISSENSE SNP Somatic -8 0.048 SQHIGH 7 49 56 0 53 53 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9684|9401 8 145741608 145741608 21 ALL relapse snv ZNF16 silent T484T NM_006958 10-PAPLUG ZNF16 SYNONYMOUS SNP dbsnp.132:rs115193808 Somatic 3 0.127 SQHIGH 16 61 77 0 84 84 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 7564 8 146156721 146156721 55 ALL relapse snv ZNF16 silent R452R NM_006958 10-PAPLUG ZNF16 SYNONYMOUS SNP Somatic 4 0.142 SQHIGH 16 68 84 0 84 84 Cosmic_Gene C C A C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 7564 8 146156817 146156817 52 ALL relapse snv FAM154A missense D131N NM_153707 10-PAPLUG FAM154A MISSENSE SNP dbsnp.134:rs144484870 Somatic 1 0.104 SQHIGH 15 58 73 0 79 79 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 158297 9 18941665 18941665 51 ALL relapse snv ACO1 silent P591P NM_002197 10-PAPLUG ACO1 SYNONYMOUS SNP Somatic 5 0.159 SQHIGH 14 38 52 2 48 50 G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 48 9 32431763 32431763 29 ALL relapse snv KIF24 missense E166Q NM_194313 10-PAPLUG KIF24 MISSENSE SNP Somatic 9 0.279 SQHIGH 11 30 41 0 41 41 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 347240 9 34310849 34310849 36 ALL relapse snv KIF24 missense E117Q NM_194313 10-PAPLUG KIF24 MISSENSE SNP Somatic 6 0.190 SQHIGH 14 56 70 0 44 44 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 347240 9 34310996 34310996 32 ALL relapse snv SECISBP2 silent K502K NM_024077 10-PAPLUG SECISBP2 SYNONYMOUS SNP Somatic 3 0.127 SQHIGH 11 44 55 1 63 64 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 79048 9 91961867 91961867 31 ALL relapse snv LHX6 silent L364L NM_001242333 10-PAPLUG LHX6 UTR3,SYNONYMOUS SNP Somatic -3 0.071 SQHIGH 10 30 40 0 42 42 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 26468 9 124966989 124966989 34 ALL relapse snv LHX6 splice_region V387_E10splice_region NM_014368 10-PAPLUG LHX6 ACCEPTOR SNP Somatic 9 0.279 SQHIGH 13 34 47 0 67 67 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 26468 9 124967066 124967066 55 ALL relapse snv RABEPK missense H196D NM_005833 10-PAPLUG RABEPK MISSENSE SNP Somatic PFAM:PF01344:Kelch_1 12 0.417 SQHIGH 10 19 29 0 35 35 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 10244 9 127990248 127990248 39 ALL relapse snv TSC1 splice_region G681_E17splice_region NM_000368 10-PAPLUG TSC1 ACCEPTOR SNP dbsnp.132:rs118203627 Somatic 11 0.363 SQHIGH 31 35 66 0 62 62 Cosmic_Gene T T C T T TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 7248 9 135779209 135779209 109 ALL relapse snv NACC2 missense G534R NM_144653 10-PAPLUG NACC2 MISSENSE SNP Somatic 3 0.127 SQHIGH 16 60 76 0 74 74 C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 138151 9 138903526 138903526 51 ALL relapse snv FBXO18 missense S131C NM_032807 10-PAPLUG FBXO18 MISSENSE SNP Somatic 10 0.317 SQHIGH 15 24 39 0 40 40 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 84893 10 5948081 5948081 53 ALL relapse snv CFAP58 silent L865L NM_001008723 10-PAPLUG CFAP58 SYNONYMOUS SNP Somatic -7 0.053 SQHIGH 6 41 47 0 63 63 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 159686 10 106214264 106214264 23 ALL relapse snv DUSP5 silent L186L NM_004419 10-PAPLUG DUSP5 SYNONYMOUS SNP Somatic PFAM:PF00782:DSPc 5 0.159 SQHIGH 16 62 78 0 79 79 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1847 10 112266722 112266722 52 ALL relapse snv DUSP5 missense Q243E NM_004419 10-PAPLUG DUSP5 MISSENSE SNP Somatic PFAM:PF00782:DSPc 5 0.159 SQHIGH 14 48 62 0 57 57 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1847 10 112266891 112266891 43 ALL relapse snv ADAM8 silent L25L NM_001109 10-PAPLUG LOC100506167|ADAM8 INTRON,TSS-UPSTREAM|SYNONYMOUS,INTRON SNP Somatic 4 0.142 SQHIGH 18 37 55 0 47 47 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 100506167|101 10 135089063 135089063 55 ALL relapse snv SYCE1 splice_region A30_E5splice_region NM_130784 10-PAPLUG SYCE1 ACCEPTOR SNP Somatic -4 0.066 SQHIGH 18 100 118 0 102 102 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 93426 10 135372459 135372459 52 ALL relapse snv TSSC4 missense E267Q NM_005706 10-PAPLUG TSSC4 MISSENSE SNP Somatic -5 0.061 SQHIGH 10 40 50 0 54 54 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 10078 11 2424662 2424662 34 ALL relapse snv AKIP1 splice_region P163_E5splice_region NM_020642 10-PAPLUG AKIP1 INTRON,DONOR SNP Somatic -10 0.042 SQHIGH 6 37 43 0 40 40 G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 56672 11 8938917 8938917 18 ALL relapse snv ABCC8 silent Q908Q NM_000352 10-PAPLUG ABCC8 SYNONYMOUS SNP Somatic 7 0.217 SQHIGH 19 60 79 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6833 11 17430035 17430035 45 ALL relapse snv MIR611 EXON E1_exon NM_014206 10-PAPLUG MIR611|C11orf10|FEN1 UTR|INTRON|TSS-UPSTREAM SNP Somatic 7 0.217 SQHIGH 22 50 72 0 52 52 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 693196|746|2237 11 61559990 61559990 hsa-miR-611:MIMAT0003279 59 ALL relapse snv ALG8 missense L303F NM_024079 10-PAPLUG ALG8 MISSENSE SNP Somatic PFAM:PF03155:Alg6_Alg8 -4 0.066 SQHIGH 6 41 47 0 40 40 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 79053 11 77820617 77820617 17 ALL relapse snv FAT3 missense T36I NM_001008781 10-PAPLUG FAT3 MISSENSE SNP Somatic 8 0.245 SQHIGH 13 30 43 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 120114 11 92085385 92085385 39 ALL relapse snv CLMP missense P181L NM_024769 10-PAPLUG CLMP|LOC100652787 MISSENSE|INTRON SNP Somatic PFAM:PF00047:ig -1 0.086 SQHIGH 8 42 50 0 63 63 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 79827|100652787 11 122954402 122954402 30 ALL relapse snv BIN2 missense L484F NM_016293 10-PAPLUG BIN2 MISSENSE SNP Somatic -3 0.071 SQHIGH 5 28 33 0 49 49 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 51411 12 51685534 51685534 21 ALL relapse snv DGKA splice_region L339_E12splice_region NM_201444 10-PAPLUG DGKA DONOR SNP Somatic 3 0.127 SQHIGH 13 46 59 0 58 58 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1606 12 56334509 56334509 42 ALL relapse snv KCNC2 missense F359L NM_139136 10-PAPLUG KCNC2 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans -8 0.048 SQHIGH 8 43 51 0 33 33 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 3747 12 75444708 75444708 18 ALL relapse snv OTOGL missense I232M NM_173591 10-PAPLUG OTOGL MISSENSE SNP Somatic PFAM:PF00094:VWD 0 0.094 SQHIGH 10 50 60 0 71 71 C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 283310 12 80626783 80626783 36 ALL relapse snv GLT8D2 silent V152V NM_031302 10-PAPLUG GLT8D2 SYNONYMOUS SNP Somatic PFAM:PF01644:Chitin_synth_1 3 0.127 SQHIGH 14 54 68 0 68 68 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 83468 12 104391260 104391260 45 ALL relapse snv CCDC64 missense D260H NM_207311 10-PAPLUG CCDC64 MISSENSE SNP Somatic 6 0.190 SQHIGH 17 46 63 1 78 79 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 92558 12 120502552 120502552 55 ALL relapse snv SPPL3 missense L165F NM_139015 10-PAPLUG SPPL3 MISSENSE SNP Somatic PFAM:PF04258:Peptidase_A22B 6 0.190 SQHIGH 18 38 56 0 72 72 G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 121665 12 121220467 121220467 73 ALL relapse snv STARD13-AS EXON E1_exon NM_178006 10-PAPLUG STARD13 INTRON SNP Somatic 5 0.159 SQHIGH 11 34 45 0 37 37 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 90627 13 33855217 33855217 31 ALL relapse snv CHAMP1 missense D454H NM_032436 10-PAPLUG CHAMP1 MISSENSE SNP Somatic 3 0.127 SQHIGH 17 70 87 0 75 75 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 283489 13 115090677 115090677 49 ALL relapse snv TRIM9 missense E19Q NM_015163 10-PAPLUG TRIM9 MISSENSE SNP Somatic 5 0.159 SQHIGH 22 74 96 1 71 72 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 114088 14 51561603 51561603 48 ALL relapse snv PLEKHD1 missense E230Q NM_001161498 10-PAPLUG PLEKHD1 MISSENSE SNP Somatic -3 0.071 SQHIGH 14 77 91 1 67 68 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 400224 14 69990983 69990983 27 ALL relapse snv RPS6KL1 missense S509C NM_031464 10-PAPLUG RPS6KL1 MISSENSE SNP Somatic 6 0.190 SQHIGH 6 17 23 0 31 31 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 83694 14 75374151 75374151 24 ALL relapse snv EIF2AK4 splice_region G287_E7splice_region NM_001013703 10-PAPLUG EIF2AK4 DONOR SNP Somatic -2 0.078 SQHIGH 10 38 48 0 57 57 Cosmic_Gene G G T G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 440275 15 40254103 40254103 36 ALL relapse snv DMXL2 silent F2896F NM_015263 10-PAPLUG DMXL2 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 12 0.417 SQHIGH 11 27 38 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23312 15 51742539 51742539 32 ALL relapse snv DYX1C1-CCPG1 EXON E8_exon NM_004748 10-PAPLUG DYX1C1-CCPG1|CCPG1 UTR|UTR3 SNP Somatic 1 0.104 SQHIGH 9 38 47 0 41 41 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 100533483|9236 15 55647881 55647881 26 ALL relapse snv PSTPIP1 splice_region Q83_E5splice_region NM_003978 10-PAPLUG PSTPIP1 ACCEPTOR SNP Somatic 3 0.127 SQHIGH 13 37 50 0 54 54 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9051 15 77317829 77317829 45 ALL relapse snv SEC11A missense L69V NM_014300 10-PAPLUG SEC11A MISSENSE SNP Somatic 4 0.142 SQHIGH 8 28 36 0 36 36 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23478 15 85230962 85230962 26 ALL relapse snv NTRK3 silent F450F NM_001012338 10-PAPLUG NTRK3 SYNONYMOUS SNP Somatic -1 0.086 SQHIGH 10 50 60 0 57 57 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 4916 15 88669548 88669548 31 ALL relapse snv IQGAP1 missense F1058L NM_003870 10-PAPLUG IQGAP1 MISSENSE SNP Somatic 16 0.748 SQHIGH 9 18 27 0 38 38 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 8826 15 91020966 91020966 38 ALL relapse snv CACNA1H missense V996L NM_021098 10-PAPLUG CACNA1H MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 0 0.094 SQHIGH 13 47 60 1 50 51 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 8912 16 1257353 1257353 29 ALL relapse snv GSPT1 missense E559Q NM_002094 10-PAPLUG GSPT1 MISSENSE SNP Somatic -3 0.071 SQHIGH 9 41 50 0 40 40 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 2935 16 11969960 11969960 25 ALL relapse snv C16orf45 silent T187T NM_033201 10-PAPLUG C16orf45 SYNONYMOUS SNP Somatic 5 0.159 SQHIGH 25 67 93 0 72 72 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 89927 16 15680632 15680632 70 ALL relapse snv PRSS36 missense F276L NM_173502 10-PAPLUG PRSS36 MISSENSE SNP Somatic 1 0.104 SQHIGH 14 50 64 1 65 66 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 146547 16 31155051 31155051 37 ALL relapse snv ABCC11 silent L38L NM_032583 10-PAPLUG ABCC11 SYNONYMOUS SNP Somatic 8 0.245 SQHIGH 18 58 76 1 67 68 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 85320 16 48264470 48264470 44 ALL relapse snv RRAD missense G62R NM_001128850 10-PAPLUG RRAD MISSENSE SNP Somatic -6 0.057 SQHIGH 6 10 16 0 22 22 C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6236 16 66958899 66958899 25 ALL relapse snv CES3 missense S121L NM_024922 10-PAPLUG CES3 TSS-UPSTREAM,MISSENSE SNP Somatic PFAM:PF00135:COesterase -5 0.061 SQHIGH 12 53 65 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23491 16 66997468 66997468 32 ALL relapse snv PHLPP2 splice_region N346_E8splice_region NM_015020 10-PAPLUG PHLPP2 ACCEPTOR SNP Somatic 6 0.190 SQHIGH 15 39 54 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23035 16 71712895 71712895 56 ALL relapse snv TERF2IP missense E73K NM_018975 10-PAPLUG KARS|TERF2IP TSS-UPSTREAM|MISSENSE SNP Somatic -4 0.066 SQHIGH 7 26 33 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 3735|54386 16 75681997 75681997 27 ALL relapse snv CTU2 missense E347K NM_001012759 10-PAPLUG CTU2 MISSENSE SNP Somatic PFAM:PF00764:Arginosuc_synth 1 0.104 SQHIGH 15 48 63 1 59 60 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 348180 16 88780577 88780577 38 ALL relapse snv TP53 nonsense Q192* NM_000546 10-PAPLUG TP53 NONSENSE SNP Somatic 0 0.094 SQHIGH 12 56 68 0 69 69 COSMIC:mut:10733 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 7157 17 7578275 7578275 39 ALL relapse snv AURKB missense E274Q NM_004217 10-PAPLUG AURKB MISSENSE SNP Somatic -10 0.042 SQHIGH 4 21 25 0 36 36 COSMIC:mut:48250 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9212 17 8108575 8108575 16 ALL relapse snv PIK3R5 missense K843N NM_001142633 10-PAPLUG PIK3R5 MISSENSE SNP Somatic PFAM:PF10486:PI3K_1B_p101 3 0.127 SQHIGH 16 70 86 0 87 87 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23533 17 8784070 8784070 52 ALL relapse snv SLC6A4 missense I544M NM_001045 10-PAPLUG SLC6A4 MISSENSE SNP Somatic PFAM:PF00209:SNF -4 0.066 SQHIGH 10 36 46 0 60 60 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6532 17 28534768 28534768 39 ALL relapse snv ATAD5 silent R521R NM_024857 10-PAPLUG ATAD5 SYNONYMOUS SNP Somatic 11 0.363 SQHIGH 16 30 46 0 58 58 Cosmic_Gene A A G A A TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 79915 17 29162662 29162662 64 ALL relapse snv CDK12 silent G1073G NM_016507 10-PAPLUG CDK12 SYNONYMOUS SNP Somatic 5 0.159 SQHIGH 10 27 37 0 28 28 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 51755 17 37681050 37681050 27 ALL relapse snv MAPT missense D225N NM_016835 10-PAPLUG MAPT INTRON,MISSENSE SNP Somatic 3 0.127 SQHIGH 15 45 60 0 54 54 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 4137 17 44060843 44060843 46 ALL relapse snv TBX4 silent P414P NM_018488 10-PAPLUG TBX4 SYNONYMOUS SNP dbsnp.134:rs143027472 Somatic 6 0.190 SQHIGH 20 43 63 1 71 72 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9496 17 59560481 59560481 63 ALL relapse snv MRC2 silent E1410E NM_006039 10-PAPLUG MRC2 SYNONYMOUS SNP Somatic -2 0.078 SQHIGH 13 31 44 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9902 17 60769602 60769602 39 ALL relapse snv MIR634 EXON E15_exon NM_002737 10-PAPLUG MIR634|PRKCA UTR|INTRON SNP Somatic -2 0.078 SQHIGH 10 46 56 0 84 84 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 693219|5578 17 64783218 64783218 hsa-mir-634:MI0003649 42 ALL relapse snv SYNGR2 nonsense *225S NM_004710 10-PAPLUG SYNGR2 NONSTOP SNP Somatic 3 0.127 SQHIGH 16 56 72 0 77 77 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9144 17 76168016 76168016 55 ALL relapse snv SIRT7 missense E60Q NM_016538 10-PAPLUG SIRT7 MISSENSE SNP Somatic 6 0.190 SQHIGH 15 42 57 0 64 64 C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 51547 17 79875759 79875759 54 ALL relapse snv DLGAP1-AS3 EXON E3_exon NM_004746 10-PAPLUG DLGAP1|LOC201477 INTRON|UTR SNP Somatic -3 0.071 SQHIGH 8 42 50 0 45 45 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9229|201477 18 3896233 3896233 24 ALL relapse snv LAMA1 missense L3040F NM_005559 10-PAPLUG LAMA1 MISSENSE SNP Somatic 4 0.142 SQHIGH 9 26 35 0 40 40 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 284217 18 6942186 6942186 33 ALL relapse snv TRAPPC8 missense S635C NM_014939 10-PAPLUG TRAPPC8 MISSENSE SNP Somatic 13 0.480 SQHIGH 9 10 19 0 23 23 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 22878 18 29454492 29454492 37 ALL relapse snv SALL3 silent R1108R NM_171999 10-PAPLUG SALL3 SYNONYMOUS SNP Somatic 3 0.127 SQHIGH 8 26 34 0 38 38 Cosmic_Gene G G T G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 27164 18 76755315 76755315 28 ALL relapse snv PALM missense A220T NM_002579 10-PAPLUG PALM|C19orf21 MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs142636705 Somatic PFAM:PF03285:Paralemmin 6 0.190 SQHIGH 16 50 66 0 46 46 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 5064|126353 19 746308 746308 40 ALL relapse snv ZNF555 missense F573L NM_152791 10-PAPLUG ZNF555 MISSENSE SNP Somatic 1 0.104 SQHIGH 11 62 73 0 58 58 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 148254 19 2853782 2853782 30 ALL relapse snv ZNF20 missense R144K NM_021143 10-PAPLUG ZNF625-ZNF20|ZNF20 UTR|MISSENSE SNP Somatic -3 0.071 SQHIGH 7 40 47 0 42 42 C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 100529855|7568 19 12244570 12244570 20 ALL relapse snv HSH2D missense E339K NM_032855 10-PAPLUG HSH2D MISSENSE SNP Somatic 3 0.127 SQHIGH 18 58 76 1 75 76 G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 84941 19 16268561 16268561 49 ALL relapse snv ACTN4 missense Q420H NM_004924 10-PAPLUG ACTN4 MISSENSE SNP Somatic 1 0.104 SQHIGH 8 34 42 0 34 34 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 81 19 39208683 39208683 22 ALL relapse snv ARHGEF1 splice_region V124_E6splice_region NM_199002 10-PAPLUG ARHGEF1 ACCEPTOR SNP Somatic -5 0.061 SQHIGH 10 69 79 0 86 86 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 9138 19 42396396 42396396 33 ALL relapse snv CCDC61 silent G323G NM_001267723 10-PAPLUG MIR769|CCDC61 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 5 0.159 SQHIGH 20 56 76 0 69 69 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 768217|729440 19 46519435 46519435 62 ALL relapse snv CA11 silent L241L NM_001217 10-PAPLUG CA11|SEC1|DBP SYNONYMOUS|INTRON|TSS-UPSTREAM SNP Somatic 5 0.159 SQHIGH 13 48 61 0 62 62 G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 770|653677|1628 19 49142634 49142634 43 ALL relapse snv CA11 missense Q238E NM_001217 10-PAPLUG CA11|SEC1|DBP MISSENSE|INTRON|TSS-UPSTREAM SNP Somatic 8 0.245 SQHIGH 19 62 81 0 84 84 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 770|653677|1628 19 49142645 49142645 64 ALL relapse snv CA11 silent L130L NM_001217 10-PAPLUG CA11|SEC1|DBP SYNONYMOUS|INTRON|TSS-UPSTREAM SNP Somatic -4 0.066 SQHIGH 9 41 50 0 49 49 G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 770|653677|1628 19 49143433 49143433 28 ALL relapse snv NUCB1 nonsense Q144* NM_006184 10-PAPLUG NUCB1 NONSENSE SNP Somatic 9 0.279 SQHIGH 13 30 43 0 48 48 C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 4924 19 49414459 49414459 47 ALL relapse snv PPFIA3 missense V258M NM_003660 10-PAPLUG PPFIA3 MISSENSE SNP Somatic 7 0.217 SQHIGH 18 60 78 0 52 52 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 8541 19 49633749 49633749 44 ALL relapse snv ZNF549 silent G125G NM_153263 10-PAPLUG ZNF549 SYNONYMOUS SNP Somatic 0 0.094 SQHIGH 12 41 53 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 256051 19 58048786 58048786 45 ALL relapse snv MZF1 missense E429Q NM_003422 10-PAPLUG MZF1|LOC100131691|UBE2M MISSENSE|INTRON|TSS-UPSTREAM SNP Somatic 6 0.190 SQHIGH 10 24 34 0 19 19 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 7593|100131691|9040 19 59074359 59074359 22 ALL relapse snv SLC4A11 missense R446C NM_032034 10-PAPLUG SLC4A11 MISSENSE SNP Somatic PFAM:PF00955:HCO3_cotransp -3 0.071 SQHIGH 6 26 32 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 83959 20 3211288 3211288 18 ALL relapse snv SEMG2 missense E379K NM_003008 10-PAPLUG SEMG2 MISSENSE SNP Somatic PFAM:PF05474:Semenogelin -1 0.086 SQHIGH 15 59 74 1 75 76 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 6407 20 43851408 43851408 40 ALL relapse snv SPO11 missense D234H NM_012444 10-PAPLUG SPO11 MISSENSE SNP Somatic 6 0.190 SQHIGH 15 41 56 0 66 66 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23626 20 55910919 55910919 56 ALL relapse snv DIDO1 silent L161L NM_022105 10-PAPLUG DIDO1 SYNONYMOUS SNP Somatic 1 0.104 SQHIGH 17 69 86 1 89 90 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 11083 20 61542482 61542482 46 ALL relapse snv KCNQ2 splice_region S342_E8splice_region NM_172107 10-PAPLUG KCNQ2 ACCEPTOR SNP Somatic 6 0.190 SQHIGH 17 54 71 1 59 60 Cosmic_Gene G G A G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 3785 20 62065262 62065262 40 ALL relapse snv JAM2 missense Q76E NM_021219 10-PAPLUG JAM2 MISSENSE SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set 3 0.127 SQHIGH 15 51 66 0 61 61 C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 58494 21 27062270 27062270 46 ALL relapse snv MAP3K7CL missense Q236E NM_020152 10-PAPLUG MAP3K7CL MISSENSE SNP Somatic 6 0.190 SQHIGH 12 30 42 0 51 51 Cosmic_Gene C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 56911 21 30547190 30547190 46 ALL relapse snv GRIK1 missense R95K NM_000830 10-PAPLUG GRIK1 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor PFAM:PF02608:Bmp -2 0.078 SQHIGH 11 51 62 1 63 64 Cosmic_Gene C C T C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 2897 21 31066217 31066217 27 ALL relapse snv DSCAM silent R1437R NM_001389 10-PAPLUG DSCAM SYNONYMOUS SNP Somatic 5 0.159 SQHIGH 9 32 41 0 37 37 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 1826 21 41452188 41452188 27 ALL relapse snv POFUT2 missense G413A NM_133635 10-PAPLUG POFUT2 UTR3,MISSENSE,UTR SNP Somatic 1 0.104 SQHIGH 14 38 52 0 64 64 C C G C C TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 23275 21 46685449 46685449 54 ALL relapse snv FBLN1 missense E583Q NM_006485 10-PAPLUG FBLN1 INTRON,MISSENSE SNP Somatic -4 0.066 SQHIGH 14 55 69 0 50 50 Cosmic_Gene G G C G G TARGET-10-PAPLUG-04A-01D TARGET-10-PAPLUG-14A-01D 2192 22 45960813 45960813 36 ALL diagnosis snv MYOM3 splice_region W81_E4splice_region NM_152372 10-PAPLUG MYOM3 ACCEPTOR SNP Somatic 10 0.309 SQHIGH 25 30 55 0 69 69 Cosmic_Gene G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 127294 1 24433730 24433730 105 ALL diagnosis snv SLC30A2 silent L121L NM_001004434 10-PAPLUG SLC30A2 SYNONYMOUS,INTRON SNP Somatic PFAM:PF01545:Cation_efflux 3 0.124 SQHIGH 44 70 114 0 105 105 G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 7780 1 26370844 26370844 146 ALL diagnosis snv CPT2 missense D407N NM_000098 10-PAPLUG CPT2 MISSENSE SNP Somatic PFAM:PF00755:Carn_acyltransf 8 0.238 SQHIGH 26 41 67 0 73 73 G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 1376 1 53676565 53676565 97 ALL diagnosis snv TCHH missense E561K NM_007113 10-PAPLUG TCHH MISSENSE SNP Somatic 8 0.238 SQHIGH 15 26 41 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 7062 1 152084012 152084012 42 ALL diagnosis snv KPRP missense V35M NM_001025231 10-PAPLUG KPRP MISSENSE SNP Somatic 12 0.409 SQHIGH 41 47 89 1 85 86 Cosmic_Gene G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 448834 1 152732167 152732167 133 ALL diagnosis snv RUSC1 missense S108C NM_001105203 10-PAPLUG RUSC1|RUSC1-AS1 TSS-UPSTREAM,MISSENSE|INTRON SNP Somatic 8 0.238 SQHIGH 23 44 67 0 85 85 Cosmic_Gene C C G C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 23623|284618 1 155291887 155291887 93 ALL diagnosis snv PARP1 missense E883Q NM_001618 10-PAPLUG PARP1 MISSENSE SNP Somatic 7 0.210 SQHIGH 25 16 41 0 46 46 Cosmic_Gene C C G C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 142 1 226552714 226552714 106 ALL diagnosis snv RAD51AP2 missense Q930E NM_001099218 10-PAPLUG RAD51AP2 MISSENSE SNP Somatic 17 0.879 SQHIGH 15 16 31 0 20 20 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 729475 2 17696895 17696895 40 ALL diagnosis snv NCKAP5 silent S379S NM_207363 10-PAPLUG NCKAP5 SYNONYMOUS,INTRON SNP Somatic 7 0.210 SQHIGH 18 41 59 0 64 64 C C T C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 344148 2 133543247 133543247 64 ALL diagnosis snv GLB1 silent L42L NM_000404 10-PAPLUG GLB1 SYNONYMOUS SNP Somatic PFAM:PF02449:Glyco_hydro_42 1 0.102 SQHIGH 16 64 80 1 63 64 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 2720 3 33114155 33114155 35 ALL diagnosis snv TNIK splice_region E407_E12splice_region NM_015028 10-PAPLUG TNIK DONOR SNP Somatic 3 0.124 SQHIGH 49 66 115 0 99 99 Cosmic_Gene C C T C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 23043 3 170875246 170875246 159 ALL diagnosis snv FBXL5 missense S634C NM_012161 10-PAPLUG FBXL5 MISSENSE,UTR SNP Somatic 4 0.138 SQHIGH 5 10 15 0 17 17 G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 26234 4 15613987 15613987 18 ALL diagnosis snv CYP2U1 missense D242H NM_183075 10-PAPLUG CYP2U1 MISSENSE SNP Somatic PFAM:PF00067:p450 7 0.210 SQHIGH 23 21 44 0 43 43 G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 113612 4 108866359 108866359 85 ALL diagnosis snv DROSHA missense I387M NM_013235 10-PAPLUG DROSHA MISSENSE SNP Somatic 16 0.747 SQHIGH 29 35 64 0 66 66 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 29102 5 31515224 31515224 107 ALL diagnosis snv ARAP3 splice_region L1113_E24splice_region NM_022481 10-PAPLUG ARAP3 ACCEPTOR SNP Somatic 5 0.155 SQHIGH 23 52 75 0 70 70 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 64411 5 141038228 141038228 74 ALL diagnosis snv TRIM15 missense K323N NM_033229 10-PAPLUG TRIM15 MISSENSE SNP Somatic 4 0.138 SQHIGH 27 33 60 0 46 46 G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 89870 6 30139697 30139697 81 ALL diagnosis snv TRIM15 missense D327H NM_033229 10-PAPLUG TRIM15 MISSENSE SNP Somatic 16 0.747 SQHIGH 24 26 50 0 45 45 G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 89870 6 30139707 30139707 82 ALL diagnosis snv MB21D1 silent V438V NM_138441 10-PAPLUG MB21D1 SYNONYMOUS SNP Somatic PFAM:PF03281:Mab-21 6 0.184 SQHIGH 14 22 36 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 115004 6 74135205 74135205 47 ALL diagnosis snv ABCA13 missense H4403Y NM_152701 10-PAPLUG ABCA13 MISSENSE SNP Somatic 15 0.677 SQHIGH 14 20 34 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 154664 7 48528857 48528857 52 ALL diagnosis snv SEMA3E missense Q483H NM_012431 10-PAPLUG SEMA3E MISSENSE SNP Somatic PFAM:PF01403:Sema 12 0.409 SQHIGH 9 15 24 0 20 20 Cosmic_Gene C C G C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 9723 7 83025963 83025963 27 ALL diagnosis snv ACO1 silent P591P NM_002197 10-PAPLUG ACO1 SYNONYMOUS SNP Somatic 10 0.309 SQHIGH 17 19 36 2 48 50 G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 48 9 32431763 32431763 57 ALL diagnosis snv LHX6 silent L364L NM_001242333 10-PAPLUG LHX6 UTR3,SYNONYMOUS SNP Somatic -3 0.070 SQHIGH 10 25 35 0 42 42 G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 26468 9 124966989 124966989 38 ALL diagnosis snv LHX6 splice_region V387_E10splice_region NM_014368 10-PAPLUG LHX6 ACCEPTOR SNP Somatic 5 0.155 SQHIGH 12 36 48 0 67 67 G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 26468 9 124967066 124967066 49 ALL diagnosis snv TSC1 splice_region G681_E17splice_region NM_000368 10-PAPLUG TSC1 ACCEPTOR SNP dbsnp.132:rs118203627 Somatic 15 0.677 SQHIGH 43 13 56 0 62 62 Cosmic_Gene T T C T T TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 7248 9 135779209 135779209 202 ALL diagnosis snv EDRF1 silent K436K NM_015608 10-PAPLUG EDRF1 SYNONYMOUS SNP Somatic -1 0.084 SQHIGH 8 36 44 0 35 35 Cosmic_Gene G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 26098 10 127422665 127422665 22 ALL diagnosis snv ADAM8 silent L25L NM_001109 10-PAPLUG LOC100506167|ADAM8 INTRON,TSS-UPSTREAM|SYNONYMOUS,INTRON SNP Somatic 5 0.155 SQHIGH 29 44 73 0 47 47 Cosmic_Gene G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 100506167|101 10 135089063 135089063 75 ALL diagnosis snv ABCC8 silent Q908Q NM_000352 10-PAPLUG ABCC8 SYNONYMOUS SNP Somatic 5 0.155 SQHIGH 28 46 74 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 6833 11 17430035 17430035 74 ALL diagnosis snv MIR611 EXON E1_exon NM_014206 10-PAPLUG MIR611|C11orf10|FEN1 UTR|INTRON|TSS-UPSTREAM SNP Somatic 10 0.309 SQHIGH 31 42 73 0 52 52 Cosmic_Gene C C G C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 693196|746|2237 11 61559990 61559990 hsa-miR-611:MIMAT0003279 87 ALL diagnosis snv FAT3 missense T36I NM_001008781 10-PAPLUG FAT3 MISSENSE SNP Somatic 13 0.472 SQHIGH 18 28 46 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 120114 11 92085385 92085385 54 ALL diagnosis snv KCNC2 missense F359L NM_139136 10-PAPLUG KCNC2 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 0 0.092 SQHIGH 28 34 62 0 33 33 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 3747 12 75444708 75444708 64 ALL diagnosis snv NAP1L1 silent L81L NM_139207 10-PAPLUG NAP1L1 SYNONYMOUS SNP Somatic PFAM:PF00956:NAP 18 0.911 SQHIGH 16 18 34 0 45 45 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 4673 12 76454023 76454023 70 ALL diagnosis snv UTP20 silent L1530L NM_014503 10-PAPLUG UTP20 SYNONYMOUS SNP Somatic 0 0.092 SQHIGH 24 23 47 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 27340 12 101738513 101738513 82 ALL diagnosis snv GLT8D2 silent V152V NM_031302 10-PAPLUG GLT8D2 SYNONYMOUS SNP Somatic PFAM:PF01644:Chitin_synth_1 9 0.271 SQHIGH 39 53 92 0 68 68 Cosmic_Gene G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 83468 12 104391260 104391260 113 ALL diagnosis snv CCDC64 missense D260H NM_207311 10-PAPLUG CCDC64 MISSENSE SNP Somatic 14 0.552 SQHIGH 33 36 69 1 78 79 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 92558 12 120502552 120502552 119 ALL diagnosis snv SPPL3 missense L165F NM_139015 10-PAPLUG SPPL3 MISSENSE SNP Somatic PFAM:PF04258:Peptidase_A22B 9 0.271 SQHIGH 22 34 56 0 72 72 G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 121665 12 121220467 121220467 91 ALL diagnosis snv PCCA missense D458H NM_000282 10-PAPLUG PCCA MISSENSE SNP Somatic PFAM:PF02785:Biotin_carb_C 12 0.409 SQHIGH 8 11 19 0 41 41 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 5095 13 100962105 100962105 45 ALL diagnosis snv HOMER2 missense E223Q NM_004839 10-PAPLUG HOMER2 MISSENSE SNP Somatic -10 0.041 SQHIGH 14 67 81 0 72 72 C C G C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 9455 15 83520989 83520989 41 ALL diagnosis snv TERF2IP missense E73K NM_018975 10-PAPLUG KARS|TERF2IP TSS-UPSTREAM|MISSENSE SNP Somatic 1 0.102 SQHIGH 14 19 33 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 3735|54386 16 75681997 75681997 58 ALL diagnosis snv AURKB missense E274Q NM_004217 10-PAPLUG AURKB MISSENSE SNP Somatic 17 0.879 SQHIGH 18 21 39 0 36 36 COSMIC:mut:48250 Cosmic_Gene C C G C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 9212 17 8108575 8108575 62 ALL diagnosis snv CDK12 silent G1073G NM_016507 10-PAPLUG CDK12 SYNONYMOUS SNP Somatic 5 0.155 SQHIGH 25 28 53 0 28 28 Cosmic_Gene G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 51755 17 37681050 37681050 58 ALL diagnosis snv TBX4 silent P414P NM_018488 10-PAPLUG TBX4 SYNONYMOUS SNP dbsnp.134:rs143027472 Somatic 4 0.138 SQHIGH 29 47 76 1 71 72 Cosmic_Gene G G A G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 9496 17 59560481 59560481 85 ALL diagnosis snv TRAPPC8 missense S635C NM_014939 10-PAPLUG TRAPPC8 MISSENSE SNP Somatic 11 0.356 SQHIGH 6 4 10 0 23 23 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 22878 18 29454492 29454492 37 ALL diagnosis snv CCDC105 missense S263L NM_173482 10-PAPLUG CCDC105 MISSENSE SNP Somatic 6 0.184 SQHIGH 22 34 56 1 69 70 Cosmic_Gene C C T C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 126402 19 15131385 15131385 78 ALL diagnosis snv ACTN4 missense Q420H NM_004924 10-PAPLUG ACTN4 MISSENSE SNP Somatic 12 0.409 SQHIGH 16 12 28 0 34 34 G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 81 19 39208683 39208683 70 ALL diagnosis snv ARHGEF1 splice_region V124_E6splice_region NM_199002 10-PAPLUG ARHGEF1 ACCEPTOR SNP Somatic 6 0.184 SQHIGH 15 36 51 0 86 86 Cosmic_Gene G G C G G TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 9138 19 42396396 42396396 71 ALL diagnosis snv JAM2 missense Q76E NM_021219 10-PAPLUG JAM2 MISSENSE SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set 15 0.677 SQHIGH 25 29 54 0 61 61 C C G C C TARGET-10-PAPLUG-09A-01D TARGET-10-PAPLUG-14A-01D 58494 21 27062270 27062270 99 ALL relapse snv SERINC2 missense E414K NM_178865 10-PAPMFI SERINC2 MISSENSE SNP Somatic PFAM:PF03348:Serinc 2 0.156 SQHIGH 30 52 82 1 71 72 G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 347735 1 31906918 31906918 83 ALL relapse snv SFPQ missense R236G NM_005066 10-PAPMFI SFPQ MISSENSE SNP Somatic -5 0.084 SQHIGH 11 10 21 0 6 6 Cosmic_Gene G G C G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 6421 1 35657945 35657945 16 ALL relapse snv ARHGEF2 silent F365F NM_001162383 10-PAPMFI ARHGEF2 SYNONYMOUS SNP Somatic 6 0.234 SQHIGH 31 48 79 0 82 82 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 9181 1 155932390 155932390 112 ALL relapse snv BLZF1 missense E228K NM_003666 10-PAPMFI BLZF1 MISSENSE SNP Somatic 8 0.290 SQHIGH 7 21 28 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 8548 1 169349732 169349732 24 ALL relapse snv RFWD2 silent L123L NM_022457 10-PAPMFI RFWD2 SYNONYMOUS SNP Somatic 3 0.171 SQHIGH 12 44 56 0 49 49 G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 64326 1 176175746 176175746 35 ALL relapse snv TMCC2 silent G502G NM_014858 10-PAPMFI TMCC2 SYNONYMOUS SNP Somatic PFAM:PF10267:Tmemb_cc2 6 0.234 SQHIGH 25 40 65 0 69 69 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 9911 1 205238836 205238836 91 ALL relapse snv MYT1L-AS1 EXON E1_exon NM_015025 10-PAPMFI MYT1L|LOC730811 INTRON|UTR SNP Somatic 11 0.408 SQHIGH 16 27 43 1 49 50 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 23040|730811 2 2329616 2329616 51 ALL relapse snv CPSF3 missense R182K NM_016207 10-PAPMFI CPSF3 MISSENSE SNP Somatic PFAM:PF00753:Lactamase_B 10 0.364 SQHIGH 8 17 25 0 23 23 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 51692 2 9574025 9574025 25 ALL relapse snv ASXL2 missense R568K NM_018263 10-PAPMFI ASXL2 MISSENSE SNP Somatic 4 0.188 SQHIGH 21 38 59 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 55252 2 25972722 25972722 71 ALL relapse snv ASXL2 silent Q491Q NM_018263 10-PAPMFI ASXL2 SYNONYMOUS SNP Somatic 4 0.188 SQHIGH 9 12 21 0 21 21 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 55252 2 25972952 25972952 32 ALL relapse snv ASXL2 nonsense E448* NM_018263 10-PAPMFI ASXL2 NONSENSE SNP Somatic 6 0.234 SQHIGH 19 39 58 0 65 65 Cosmic_Gene C C A C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 55252 2 25973083 25973083 70 ALL relapse snv ASXL2 missense E416Q NM_018263 10-PAPMFI ASXL2 MISSENSE SNP Somatic 9 0.324 SQHIGH 17 27 44 0 55 55 Cosmic_Gene C C G C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 55252 2 25973179 25973179 69 ALL relapse snv ASXL2 missense E407K NM_018263 10-PAPMFI ASXL2 MISSENSE SNP Somatic 6 0.234 SQHIGH 15 22 37 0 42 42 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 55252 2 25973206 25973206 58 ALL relapse snv DNAH6 missense L530V NM_001370 10-PAPMFI DNAH6 MISSENSE SNP Somatic -8 0.066 SQHIGH 4 14 18 0 20 20 Cosmic_Gene C C G C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 1768 2 84780144 84780144 14 ALL relapse snv CRYGB silent L125L NM_005210 10-PAPMFI CRYGB|LOC100507443 SYNONYMOUS|INTRON SNP Somatic PFAM:PF00030:Crystall 10 0.364 SQHIGH 16 26 42 0 47 47 G G C G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 1419|100507443 2 209007515 209007515 60 ALL relapse snv USP40 missense E638Q NM_018218 10-PAPMFI USP40 MISSENSE SNP Somatic 14 0.603 SQHIGH 15 21 36 0 34 34 Cosmic_Gene C C G C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 55230 2 234433140 234433140 51 ALL relapse snv TGM4 splice_region E100_E3splice_region NM_003241 10-PAPMFI TGM4 DONOR SNP Somatic 3 0.171 SQHIGH 37 54 91 0 81 81 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 7047 3 44929290 44929290 121 ALL relapse snv BOC silent L85L NM_033254 10-PAPMFI BOC SYNONYMOUS SNP Somatic PFAM:PF00047:ig 2 0.156 SQHIGH 35 83 118 1 101 102 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 91653 3 112969559 112969559 94 ALL relapse snv RAB43 missense D26N NM_198490 10-PAPMFI ISY1-RAB43|RAB43 INTRON|MISSENSE SNP Somatic PFAM:PF02263:GBP 10 0.364 SQHIGH 7 16 23 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 100534599|339122 3 128840257 128840257 31 ALL relapse snv KY missense S140Y NM_178554 10-PAPMFI KY MISSENSE SNP Somatic 10 0.364 SQHIGH 36 47 83 0 79 79 Cosmic_Gene G G T G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 339855 3 134343959 134343959 125 ALL relapse snv TFRC missense A725V NM_003234 10-PAPMFI TFRC MISSENSE SNP Somatic PFAM:PF04253:TFR_dimer 10 0.364 SQHIGH 21 33 54 0 54 54 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 7037 3 195778922 195778922 74 ALL relapse snv VEGFC splice_region S382_E6splice_region NM_005429 10-PAPMFI VEGFC INTRON SNP Somatic 17 0.852 SQHIGH 22 21 43 0 58 58 Cosmic_Gene C C G C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 7424 4 177608334 177608334 99 ALL relapse snv SLIT3 silent L746L NM_003062 10-PAPMFI SLIT3 SYNONYMOUS SNP Somatic PFAM:PF01462:LRRNT 7 0.260 SQHIGH 30 40 70 0 68 68 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 6586 5 168175339 168175339 106 ALL relapse snv C5orf47 missense P124Q NM_001144954 10-PAPMFI C5orf47 MISSENSE SNP Somatic 4 0.188 SQHIGH 9 18 27 0 33 33 C C A C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 133491 5 173425201 173425201 35 ALL relapse snv DDX41 missense Q370H NM_016222 10-PAPMFI DDX41|DOK3 MISSENSE|TSS-UPSTREAM SNP Somatic 15 0.687 SQHIGH 18 14 32 0 55 55 C C A C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 51428|79930 5 176940474 176940474 96 ALL relapse snv OR6V1 missense K270N NM_001001667 10-PAPMFI OR6V1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 8 0.290 SQHIGH 20 35 55 0 79 79 Cosmic_Gene G G T G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 346517 7 142750247 142750247 88 ALL relapse snv FREM1 missense D519Y NM_144966 10-PAPMFI FREM1 MISSENSE SNP Somatic 13 0.522 SQHIGH 30 30 60 0 76 76 Cosmic_Gene C C A C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 158326 9 14842497 14842497 130 ALL relapse snv APBA1 silent S651S NM_001163 10-PAPMFI APBA1 SYNONYMOUS SNP Somatic 5 0.206 SQHIGH 21 53 74 0 81 81 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 320 9 72067053 72067053 75 ALL relapse snv LCN9 silent I153I NM_001001676 10-PAPMFI LCN9 SYNONYMOUS SNP Somatic PFAM:PF00061:Lipocalin 2 0.156 SQHIGH 32 63 95 0 103 103 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 392399 9 138557582 138557582 116 ALL relapse snv CARS silent X727X NM_139273 10-PAPMFI CARS SYNONYMOUS,UTR SNP Somatic 6 0.234 SQHIGH 17 33 50 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 833 11 3022419 3022419 64 ALL relapse snv CTSW nonsense Q270* NM_001335 10-PAPMFI CTSW NONSENSE SNP Somatic 10 0.364 SQHIGH 25 37 62 1 74 75 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 1521 11 65650602 65650602 88 ALL relapse snv KLHL35 missense E9Q NM_001039548 10-PAPMFI KLHL35 MISSENSE SNP Somatic -5 0.084 SQHIGH 4 11 15 0 19 19 C C G C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 283212 11 75141650 75141650 15 ALL relapse snv VWA5A missense M483I NM_014622 10-PAPMFI VWA5A MISSENSE SNP Somatic 16 0.751 SQHIGH 14 25 39 0 41 41 Cosmic_Gene G G T G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 4013 11 124006925 124006925 50 ALL relapse snv ZNF384 splice_region M1_E3splice_region NM_133476 10-PAPMFI ZNF384 ACCEPTOR SNP Somatic 2 0.156 SQHIGH 27 90 117 3 93 96 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 171017 12 6788694 6788694 49 ALL relapse snv PIK3C2G missense D1051G NM_004570 10-PAPMFI PIK3C2G MISSENSE SNP Somatic 14 0.603 SQHIGH 14 2 16 0 28 28 Cosmic_Gene A G G A A TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 5288 12 18658347 18658347 90 ALL relapse snv LOC100506606 EXON E6_exon NM_018099 10-PAPMFI LOC100506606|FAR2 UTR|INTRON SNP Somatic 5 0.206 SQHIGH 10 11 22 0 29 29 C C G C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 100506606|55711 12 29462760 29462760 45 ALL relapse snv ARHGAP9 missense R278K NM_032496 10-PAPMFI ARHGAP9 MISSENSE SNP Somatic 15 0.687 SQHIGH 18 22 40 0 38 38 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 64333 12 57870976 57870976 63 ALL relapse snv ARHGAP9 missense A274T NM_032496 10-PAPMFI ARHGAP9 MISSENSE SNP Somatic 16 0.751 SQHIGH 10 19 29 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 64333 12 57870989 57870989 40 ALL relapse snv ARHGAP9 missense E258K NM_032496 10-PAPMFI ARHGAP9 MISSENSE SNP Somatic 8 0.290 SQHIGH 13 19 32 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 64333 12 57871037 57871037 44 ALL relapse snv CPB2-AS1 EXON E1_exon NM_001872 10-PAPMFI LOC100509894|CPB2 UTR|INTRON SNP Somatic 17 0.852 SQHIGH 12 13 25 0 40 40 Cosmic_Gene T T C T T TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 100509894|1361 13 46675342 46675342 59 ALL relapse snv PCDH17 nonsense *1160L NM_001040429 10-PAPMFI PCDH17 NONSTOP SNP Somatic 1 0.142 SQHIGH 19 37 56 0 69 69 Cosmic_Gene G G T G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 27253 13 58299427 58299427 75 ALL relapse snv CGNL1 silent L397L NM_032866 10-PAPMFI CGNL1 SYNONYMOUS SNP Somatic 9 0.324 SQHIGH 28 40 68 0 62 62 Cosmic_Gene C C A C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 84952 15 57731388 57731388 93 ALL relapse snv FEM1B missense D609N NM_015322 10-PAPMFI FEM1B MISSENSE SNP Somatic 6 0.234 SQHIGH 20 39 59 0 41 41 G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 10116 15 68583521 68583521 53 ALL relapse snv IL21R nonsense Y281* NM_021798 10-PAPMFI IL21R NONSENSE SNP Somatic 6 0.234 SQHIGH 23 37 60 0 52 52 Cosmic_Gene C C G C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 50615 16 27457385 27457385 73 ALL relapse snv HYDIN nonsense E1276* NM_001270974 10-PAPMFI HYDIN NONSENSE SNP Somatic -8 0.066 SQHIGH 17 84 101 0 135 135 Cosmic_Gene C C A C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 54768 16 71025259 71025259 66 ALL relapse snv CNTNAP4 silent L36L NM_138994 10-PAPMFI CNTNAP4 SYNONYMOUS SNP Somatic -16 0.032 6 6 12 0 10 10 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 85445 16 76350407 76350407 19 ALL relapse snv TOP2A silent I84I NM_001067 10-PAPMFI TOP2A SYNONYMOUS SNP Somatic PFAM:PF02518:HATPase_c -8 0.066 SQHIGH 7 11 18 0 16 16 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 7153 17 38572690 38572690 22 ALL relapse snv LOXHD1 silent I65I NM_144612 10-PAPMFI LOXHD1 SYNONYMOUS SNP Somatic 4 0.188 SQHIGH 40 63 103 0 115 115 G G T G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 125336 18 44229168 44229168 152 ALL relapse snv SERPINB8 missense R339Q NM_002640 10-PAPMFI SERPINB8 MISSENSE SNP Somatic PFAM:PF00079:Serpin 11 0.408 SQHIGH 15 13 28 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 5271 18 61654403 61654403 59 ALL relapse snv ZNF551 missense E321K NM_138347 10-PAPMFI ZNF551 MISSENSE SNP Somatic 6 0.234 SQHIGH 13 44 57 0 63 63 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 90233 19 58198604 58198604 46 ALL relapse snv TMEM239 silent L119L NM_001167670 10-PAPMFI TMEM239 SYNONYMOUS SNP Somatic 7 0.260 SQHIGH 20 26 46 0 34 34 C C A C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 100288797 20 2797557 2797557 58 ALL relapse snv PIGT missense S217C NM_015937 10-PAPMFI PIGT MISSENSE SNP Somatic PFAM:PF04113:Gpi16 3 0.171 SQHIGH 19 63 82 0 88 88 Cosmic_Gene C C G C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 51604 20 44048199 44048199 65 ALL relapse snv CDH4 missense R431C NM_001794 10-PAPMFI CDH4 MISSENSE SNP Somatic 7 0.260 SQHIGH 32 52 84 0 87 87 Cosmic_Gene C C T C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 1002 20 60485580 60485580 115 ALL relapse snv TIAM1 missense S1015F NM_003253 10-PAPMFI TIAM1 MISSENSE SNP Somatic 7 0.260 SQHIGH 24 64 88 0 57 57 Cosmic_Gene G G A G G TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 7074 21 32526692 32526692 58 ALL relapse snv CSF2RA silent L10L NM_006140 10-PAPMFI CSF2RA SYNONYMOUS,UTR5,UTR SNP Somatic 8 0.290 SQHIGH 21 54 75 1 101 102 Cosmic_Gene C C G C C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 1438 X 1401626 1401626 75 ALL relapse snv PFKFB1 nonsense E348* NM_002625 10-PAPMFI PFKFB1 NONSENSE SNP Somatic PFAM:PF00300:His_Phos_1 18 0.897 SQHIGH 25 4 29 0 25 25 Cosmic_Gene C A C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 5207 X 54971928 54971928 109 ALL relapse snv TMEM35 silent L18L NM_021637 10-PAPMFI TMEM35 SYNONYMOUS SNP dbsnp.134:rs143723066 Somatic 17 0.852 SQHIGH 32 9 41 0 39 39 C T C TARGET-10-PAPMFI-04A-01D TARGET-10-PAPMFI-10A-01D 59353 X 100334045 100334045 138 ALL diagnosis snv C5orf47 missense P124Q NM_001144954 10-PAPMFI C5orf47 MISSENSE SNP Somatic 5 0.204 SQHIGH 14 7 21 0 33 33 C C A C C TARGET-10-PAPMFI-09A-01D TARGET-10-PAPMFI-10A-01D 133491 5 173425201 173425201 74 ALL diagnosis snv FREM1 missense D519Y NM_144966 10-PAPMFI FREM1 MISSENSE SNP Somatic 8 0.287 SQHIGH 21 34 55 0 76 76 Cosmic_Gene C C A C C TARGET-10-PAPMFI-09A-01D TARGET-10-PAPMFI-10A-01D 158326 9 14842497 14842497 91 ALL diagnosis snv APBA1 silent S651S NM_001163 10-PAPMFI APBA1 SYNONYMOUS SNP Somatic 6 0.231 SQHIGH 18 69 87 0 81 81 Cosmic_Gene C C T C C TARGET-10-PAPMFI-09A-01D TARGET-10-PAPMFI-10A-01D 320 9 72067053 72067053 56 ALL diagnosis snv LCN9 silent I153I NM_001001676 10-PAPMFI LCN9 SYNONYMOUS SNP Somatic PFAM:PF00061:Lipocalin 6 0.231 SQHIGH 38 63 101 0 103 103 Cosmic_Gene C C T C C TARGET-10-PAPMFI-09A-01D TARGET-10-PAPMFI-10A-01D 392399 9 138557582 138557582 135 ALL diagnosis snv RERG-AS1 EXON E2_exon NM_032918 10-PAPMFI RERG INTRON SNP Somatic 0 0.129 SQHIGH 6 28 34 1 71 72 Cosmic_Gene T T A T T TARGET-10-PAPMFI-09A-01D TARGET-10-PAPMFI-10A-01D 85004 12 15307265 15307265 24 ALL diagnosis snv CPB2-AS1 EXON E1_exon NM_001872 10-PAPMFI LOC100509894|CPB2 UTR|INTRON SNP Somatic 19 0.954 SQHIGH 15 12 27 0 40 40 Cosmic_Gene T T C T T TARGET-10-PAPMFI-09A-01D TARGET-10-PAPMFI-10A-01D 100509894|1361 13 46675342 46675342 73 ALL diagnosis snv ASXL3 silent L1191L NM_030632 10-PAPMFI ASXL3 SYNONYMOUS SNP Somatic -5 0.083 SQHIGH 5 14 19 1 33 34 Cosmic_Gene T T G T T TARGET-10-PAPMFI-09A-01D TARGET-10-PAPMFI-10A-01D 80816 18 31323385 31323385 17 ALL relapse snv MFSD2A missense A197T NM_001136493 10-PAPMVB MFSD2A MISSENSE SNP Somatic 16 0.737 SQHIGH 31 36 67 2 56 58 Cosmic_Gene G G A G G TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 84879 1 40431215 40431215 79 ALL relapse snv LHX4-AS1 EXON E3_exon NM_033343 10-PAPMVB LOC100527964|LHX4 UTR|INTRON SNP Somatic 14 0.547 SQHIGH 19 28 47 0 46 46 Cosmic_Gene T T C T T TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 100527964|89884 1 180239827 180239827 66 ALL relapse snv IGFN1 missense L2815F NM_001164586 10-PAPMVB IGFN1 MISSENSE SNP Somatic 6 0.180 SQHIGH 20 55 75 0 63 63 Cosmic_Gene C C T C C TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 91156 1 201182464 201182464 59 ALL relapse snv TMEM183B missense I93M NM_001079809 10-PAPMVB TMEM183A|LOC401980 MISSENSE|TSS-UPSTREAM SNP Somatic -9 0.044 SQHIGH 4 30 34 0 37 37 C C G C C TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 92703|401980 1 202977850 202977850 13 ALL relapse snv CTNNA2 missense I554T NM_004389 10-PAPMVB CTNNA2 MISSENSE SNP Somatic PFAM:PF01044:Vinculin 10 0.304 SQHIGH 14 26 40 0 35 35 Cosmic_Gene T T C T T TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 1496 2 80782938 80782938 44 ALL relapse snv UBA5 missense D290N NM_024818 10-PAPMVB NPHP3-ACAD11|UBA5 INTRON|MISSENSE SNP Somatic 8 0.234 SQHIGH 8 10 18 0 29 29 Cosmic_Gene G G A G G TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 100532724|79876 3 132394147 132394147 39 ALL relapse snv ENPP1 silent S189S NM_006208 10-PAPMVB ENPP1 SYNONYMOUS SNP Somatic 19 0.954 SQHIGH 20 13 33 0 46 46 Cosmic_Gene T T C T T TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 5167 6 132173325 132173325 97 ALL relapse snv PAPOLB silent L242L NM_020144 10-PAPMVB RADIL|PAPOLB INTRON|SYNONYMOUS SNP Somatic PFAM:PF04928:PAP_central -32 0.004 7 45 52 1 55 56 Cosmic_Gene T T C T T TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 55698|56903 7 4900716 4900716 16 ALL relapse snv DUS4L nonsense Q7* NM_181581 10-PAPMVB DUS4L|COG5 NONSENSE|TSS-UPSTREAM SNP Somatic 10 0.304 SQHIGH 12 24 36 1 23 24 Cosmic_Gene C C T C C TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 11062|10466 7 107207534 107207534 22 ALL relapse snv LRRN3 silent Y244Y NM_001099660 10-PAPMVB IMMP2L|LRRN3 INTRON|SYNONYMOUS SNP Somatic 6 0.180 SQHIGH 24 36 60 0 70 70 Cosmic_Gene C C T C C TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 83943|54674 7 110763560 110763560 94 ALL relapse snv PARG missense R800C NM_003631 10-PAPMVB PARG MISSENSE SNP Somatic PFAM:PF05028:PARG_cat 7 0.207 SQHIGH 21 34 55 0 57 57 Cosmic_Gene G G A G G TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 8505 10 51051634 51051634 75 ALL relapse snv LIPK missense F231L NM_001080518 10-PAPMVB LIPK MISSENSE SNP Somatic 6 0.180 SQHIGH 22 44 66 1 85 86 Cosmic_Gene C C A C C TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 643414 10 90497415 90497415 78 ALL relapse snv NT5C2 missense R238W NM_012229 10-PAPMVB NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 5 0.152 SQHIGH 6 19 25 0 37 37 G G A G G TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 22978 10 104857107 104857107 25 ALL relapse snv CHST15 silent P513P NM_015892 10-PAPMVB CHST15 SYNONYMOUS SNP Somatic 7 0.207 SQHIGH 26 38 64 0 81 81 Cosmic_Gene G G A G G TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 51363 10 125769812 125769812 108 ALL relapse snv ANO9 silent S414S NM_001012302 10-PAPMVB ANO9 SYNONYMOUS SNP Somatic PFAM:PF04547:Anoctamin 8 0.234 SQHIGH 8 30 38 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 338440 11 428180 428180 21 ALL relapse snv TMEM262 silent S86S NM_001282448 10-PAPMVB CDCA5|LOC100130348 TSS-UPSTREAM|INTRON SNP Somatic 5 0.152 SQHIGH 18 52 70 0 77 77 G G C G G TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 113130|100130348 11 64856139 64856139 64 ALL relapse snv N4BP2L2 missense S711F NM_033111 10-PAPMVB N4BP2L2 MISSENSE SNP Somatic 1 0.099 SQHIGH 11 39 50 0 61 61 G G A G G TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 10443 13 33016542 33016542 41 ALL relapse snv BEGAIN splice M81_E3splice NM_001159531 10-PAPMVB BEGAIN DISRUPT SNP Somatic 7 0.207 SQHIGH 25 54 79 0 58 58 C C A C C TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 57596 14 101011336 101011336 68 ALL relapse snv UNC13C missense H1136Q NM_001080534 10-PAPMVB UNC13C MISSENSE SNP Somatic 6 0.180 SQHIGH 22 37 59 0 53 53 Cosmic_Gene C C G C C TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 440279 15 54542602 54542602 71 ALL relapse snv HOXB3 missense D30V NM_002146 10-PAPMVB HOXB3 MISSENSE SNP Somatic -2 0.075 SQHIGH 8 15 23 0 13 13 T T A T T TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 3213 17 46629748 46629748 18 ALL relapse snv TMEM235 silent R171R NM_001204210 10-PAPMVB TMEM235 SYNONYMOUS SNP Somatic 13 0.464 SQHIGH 18 24 42 0 34 34 C C T C C TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 283999 17 76235208 76235208 55 ALL relapse snv MUC16 silent S3082S NM_024690 10-PAPMVB MUC16 SYNONYMOUS SNP Somatic 7 0.207 SQHIGH 10 34 44 0 57 57 Cosmic_Gene G G A G G TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 94025 19 9082569 9082569 39 ALL relapse snv UCKL1 missense N153D NM_017859 10-PAPMVB MIR1914|UCKL1|MIR647 TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic -4 0.064 SQHIGH 10 68 78 2 66 68 T T C T T TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 100302137|54963|693232 20 62577283 62577283 16 ALL relapse complex UBA2 proteinDel P135_I137>PL NM_005499 10-PAPMVB UBA2 DELETE+ Sub Somatic -8 0.259 SQHIGH 6 21 27 0 43 43 Cosmic_Gene CTCTTA CTCTTA CCC CTCTTA CTCTTA TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 10054 19 34925818 34925823 26 ALL diagnosis snv MFSD2A missense A197T NM_001136493 10-PAPMVB MFSD2A MISSENSE SNP Somatic 7 0.198 SQHIGH 21 29 50 2 56 58 Cosmic_Gene G G A G G TARGET-10-PAPMVB-09A-01D TARGET-10-PAPMVB-14A-01D 84879 1 40431215 40431215 62 ALL diagnosis snv UBA5 missense D290N NM_024818 10-PAPMVB NPHP3-ACAD11|UBA5 INTRON|MISSENSE SNP Somatic 4 0.129 SQHIGH 8 16 24 0 29 29 Cosmic_Gene G G A G G TARGET-10-PAPMVB-09A-01D TARGET-10-PAPMVB-14A-01D 100532724|79876 3 132394147 132394147 31 ALL diagnosis snv ENPP1 silent S189S NM_006208 10-PAPMVB ENPP1 SYNONYMOUS SNP Somatic 19 0.952 SQHIGH 29 10 39 0 46 46 Cosmic_Gene T T C T T TARGET-10-PAPMVB-09A-01D TARGET-10-PAPMVB-14A-01D 5167 6 132173325 132173325 138 ALL diagnosis snv DUS4L nonsense Q7* NM_181581 10-PAPMVB DUS4L|COG5 NONSENSE|TSS-UPSTREAM SNP Somatic 10 0.292 SQHIGH 15 17 32 1 23 24 Cosmic_Gene C C T C C TARGET-10-PAPMVB-09A-01D TARGET-10-PAPMVB-14A-01D 11062|10466 7 107207534 107207534 35 ALL diagnosis snv LRRN3 silent Y244Y NM_001099660 10-PAPMVB IMMP2L|LRRN3 INTRON|SYNONYMOUS SNP Somatic 15 0.655 SQHIGH 19 26 45 0 70 70 Cosmic_Gene C C T C C TARGET-10-PAPMVB-09A-01D TARGET-10-PAPMVB-14A-01D 83943|54674 7 110763560 110763560 90 ALL diagnosis snv MMS19 missense A4G NM_022362 10-PAPMVB MMS19|UBTD1 MISSENSE|TSS-UPSTREAM SNP Somatic -10 0.038 SQHIGH 4 16 20 0 28 28 G G C G G TARGET-10-PAPMVB-09A-01D TARGET-10-PAPMVB-14A-01D 64210|80019 10 99258131 99258131 16 ALL diagnosis snv HOXB3 missense D30V NM_002146 10-PAPMVB HOXB3 MISSENSE SNP Somatic -2 0.071 SQHIGH 17 11 28 0 13 13 T T A T T TARGET-10-PAPMVB-09A-01D TARGET-10-PAPMVB-14A-01D 3213 17 46629748 46629748 38 ALL diagnosis snv ENTPD6 silent S152S NM_001247 10-PAPMVB ENTPD6 SYNONYMOUS SNP Somatic PFAM:PF01150:GDA1_CD39 3 0.116 SQHIGH 13 44 57 0 72 72 C C T C C TARGET-10-PAPMVB-09A-01D TARGET-10-PAPMVB-14A-01D 955 20 25193901 25193901 50 ALL diagnosis snv R3HDM1 splice_region R331_E14splice_region NM_015361 10-PAPMYD R3HDM1 ACCEPTOR SNP Somatic -4 0.076 SQHIGH 4 25 29 0 41 41 Cosmic_Gene T T C T T TARGET-10-PAPMYD-03A-01D TARGET-10-PAPMYD-14A-01D 23518 2 136396461 136396461 16 ALL diagnosis snv IMPG1 missense R116H NM_001563 10-PAPMYD IMPG1 MISSENSE SNP Somatic 15 0.651 SQHIGH 26 31 57 0 44 44 Cosmic_Gene C C T C C TARGET-10-PAPMYD-03A-01D TARGET-10-PAPMYD-14A-01D 3617 6 76744459 76744459 79 ALL diagnosis snv RNF208 silent P7P NM_031297 10-PAPMYD RNF208|C9orf169 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -1 0.099 SQHIGH 9 13 22 0 17 17 G G A G G TARGET-10-PAPMYD-03A-01D TARGET-10-PAPMYD-14A-01D 727800|375791 9 140115644 140115644 26 ALL diagnosis snv NFKB2 silent P760P NM_001077494 10-PAPMYD NFKB2 SYNONYMOUS SNP Somatic -3 0.082 SQHIGH 14 28 42 1 41 42 Cosmic_Gene G G A G G TARGET-10-PAPMYD-03A-01D TARGET-10-PAPMYD-14A-01D 4791 10 104161262 104161262 38 ALL diagnosis snv NUAK1 missense A353V NM_014840 10-PAPMYD NUAK1 MISSENSE SNP Somatic -6 0.065 SQHIGH 9 45 54 0 44 44 Cosmic_Gene G G A G G TARGET-10-PAPMYD-03A-01D TARGET-10-PAPMYD-14A-01D 9891 12 106461508 106461508 25 ALL diagnosis snv CTCF splice G453_E8splice NM_006565 10-PAPMYD CTCF DISRUPT SNP Somatic 16 0.724 SQHIGH 18 31 49 0 61 61 Cosmic_Gene A A G A A TARGET-10-PAPMYD-03A-01D TARGET-10-PAPMYD-14A-01D 10664 16 67660456 67660456 72 ALL diagnosis snv TP53 missense C176Y NM_000546 10-PAPMYD TP53 MISSENSE SNP Somatic 12 0.409 SQHIGH 22 16 38 0 31 31 COSMIC:mut:99669,COSMIC:mut:99670,COSMIC:mut:99671,COSMIC:mut:10687,COSMIC:mut:99672 Cosmic_Gene C C T C C TARGET-10-PAPMYD-03A-01D TARGET-10-PAPMYD-14A-01D 7157 17 7578403 7578403 74 ALL diagnosis complex SERHL2 nonsense L236>LT*H NM_014509 10-PAPMYD SERHL2 INSERT+ Sub Somatic PFAM:PF12697:Abhydrolase_6 2 0.768 SQHIGH 22 57 79 0 54 54 CT CT CCACCTAGCAC CT CT TARGET-10-PAPMYD-03A-01D TARGET-10-PAPMYD-14A-01D 253190 22 42967184 42967185 56 ALL diagnosis snv NRAS missense Q61K NM_002524 10-PAPNFY NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 19 0.941 SQHIGH 12 17 29 0 35 35 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 4893 1 115256530 115256530 48 ALL diagnosis snv UNC80 splice H1014_E19splice NM_032504 10-PAPNFY UNC80 SYNONYMOUS SNP Somatic 10 0.302 SQHIGH 26 21 47 2 70 72 C C T C C TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 285175 2 210703946 210703946 106 ALL diagnosis snv AHRR missense R453C NM_020731 10-PAPNFY AHRR MISSENSE SNP dbsnp.132:rs111768223 Somatic 20 0.999 SQHIGH 17 21 38 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 57491 5 434146 434146 62 ALL diagnosis snv HLA-B missense G339V NM_005514 10-PAPNFY HLA-B MISSENSE SNP Somatic -5 0.056 SQHIGH 23 48 71 0 45 45 C C A C C TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 3106 6 31322439 31322439 56 ALL diagnosis snv NHSL1 missense V276I NM_020464 10-PAPNFY NHSL1 MISSENSE SNP Somatic 9 0.271 SQHIGH 19 52 71 0 70 70 C C T C C TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 57224 6 138754668 138754668 63 ALL diagnosis snv HECW1 silent G765G NM_015052 10-PAPNFY HECW1 SYNONYMOUS SNP Somatic 7 0.220 SQHIGH 8 15 23 1 21 22 Cosmic_Gene C C T C C TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 23072 7 43485066 43485066 19 ALL diagnosis snv KMT2C nonsense Y4113* NM_170606 10-PAPNFY KMT2C NONSENSE SNP Somatic 2 0.110 SQHIGH 4 28 32 0 46 46 Cosmic_Gene A A T A A TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 58508 7 151849977 151849977 16 ALL diagnosis snv SPTBN2 missense T2346P NM_006946 10-PAPNFY SPTBN2 MISSENSE SNP Somatic -8 0.044 SQHIGH 6 13 19 0 23 23 Cosmic_Gene T T G T T TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 6712 11 66453479 66453479 23 ALL diagnosis snv ITPR2 missense L2684P NM_002223 10-PAPNFY ITPR2 MISSENSE SNP Somatic 8 0.244 SQHIGH 20 33 53 0 63 63 Cosmic_Gene A A G A A TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 3709 12 26492385 26492385 78 ALL diagnosis snv HOXB1 silent S61S NM_002144 10-PAPNFY HOXB1 SYNONYMOUS SNP Somatic 15 0.623 SQHIGH 11 16 27 1 35 36 Cosmic_Gene G G A G G TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 3211 17 46608084 46608084 37 ALL diagnosis snv MAP1S missense G404A NM_018174 10-PAPNFY MAP1S MISSENSE SNP Somatic -3 0.065 SQHIGH 6 15 21 2 39 41 Cosmic_Gene G G C G G TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 55201 19 17837404 17837404 18 ALL diagnosis snv FTCD missense R446W NM_206965 10-PAPNFY FTCD MISSENSE SNP Somatic PFAM:PF04961:FTCD_C -12 0.033 15 72 87 1 53 55 COSMIC:mut:84752 Cosmic_Gene G G A G G TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 10841 21 47558529 47558529 25 ALL diagnosis mnv CREBBP missense Y1503G NM_004380 10-PAPNFY CREBBP MISSENSE Sub Somatic PFAM:PF08214:KAT11 4 0.913 SQHIGH 18 28 46 0 71 71 Cosmic_Gene TA TA CC TA TA TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 1387 16 3786703 3786704 84 ALL diagnosis complex PARD6A frameshift S282fs NM_016948 10-PAPNFY PARD6A|C16orf86|ACD FRAMESHIFT|TSS-UPSTREAM|TSS-UPSTREAM Sub Somatic -10 0.215 SQHIGH 4 21 25 0 31 31 Cosmic_Gene CAG CAG CGGT CAG CAG TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 50855|388284|65057 16 67696352 67696354 15 ALL relapse snv CSMD2 silent P3397P NM_052896 10-PAPNFY CSMD2 SYNONYMOUS SNP Somatic 7 0.219 SQHIGH 11 22 33 0 26 26 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 114784 1 33985525 33985525 32 ALL relapse snv WDR3 missense R9C NM_006784 10-PAPNFY WDR3|GDAP2 MISSENSE|TSS-UPSTREAM SNP Somatic -6 0.057 SQHIGH 7 53 60 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 10885|54834 1 118475967 118475967 21 ALL relapse snv POU2F1 missense R277H NM_002697 10-PAPNFY POU2F1 MISSENSE,UTR SNP Somatic -2 0.076 SQHIGH 5 28 33 1 52 53 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 5451 1 167358841 167358841 15 ALL relapse snv KDM5B missense S1224L NM_006618 10-PAPNFY KDM5B MISSENSE SNP Somatic 4 0.143 SQHIGH 15 44 59 2 67 69 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 10765 1 202702767 202702767 38 ALL relapse snv MSH6 missense R959H NM_000179 10-PAPNFY MSH6 MISSENSE SNP Somatic PFAM:PF05190:MutS_IV 6 0.192 SQHIGH 16 34 50 0 54 54 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 2956 2 48027998 48027998 57 ALL relapse snv KCNJ3 missense A468T NM_002239 10-PAPNFY KCNJ3 MISSENSE SNP Somatic -4 0.065 SQHIGH 5 23 28 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 3760 2 155711721 155711721 19 ALL relapse snv GPR155 missense A317V NM_001033045 10-PAPNFY GPR155 MISSENSE SNP Somatic PFAM:PF03547:Mem_trans 17 0.836 SQHIGH 11 20 31 0 46 46 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 151556 2 175335194 175335194 49 ALL relapse snv UNC80 splice H1014_E19splice NM_032504 10-PAPNFY UNC80 SYNONYMOUS SNP Somatic 9 0.270 SQHIGH 25 32 57 2 70 72 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 285175 2 210703946 210703946 83 ALL relapse snv CLASP2 splice P691_E21splice NM_015097 10-PAPNFY CLASP2 DISRUPT SNP Somatic 9 0.270 SQHIGH 7 21 28 0 24 24 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 23122 3 33633886 33633886 21 ALL relapse snv ZNF35 silent Y418Y NM_003420 10-PAPNFY ZNF35 SYNONYMOUS SNP Somatic -6 0.057 SQHIGH 6 34 40 0 63 63 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 7584 3 44701109 44701109 26 ALL relapse snv STAB1 missense A2013G NM_015136 10-PAPNFY STAB1 MISSENSE SNP Somatic 8 0.243 SQHIGH 7 28 35 0 69 69 Cosmic_Gene C C G C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 23166 3 52555506 52555506 35 ALL relapse snv ESRG EXON E10_exon NM_018398 10-PAPNFY ESRG|CACNA2D3 UTR|INTRON SNP Somatic -6 0.057 SQHIGH 7 50 57 0 70 70 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 790952|55799 3 54666818 54666818 25 ALL relapse snv SLITRK3 missense R603C NM_014926 10-PAPNFY SLITRK3 MISSENSE SNP Somatic -4 0.065 SQHIGH 11 41 52 1 46 47 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 22865 3 164906812 164906812 25 ALL relapse snv MGC2889 EXON E1_exon NM_020386 10-PAPNFY MGC2889|HRASLS UTR|INTRON SNP Somatic 17 0.836 SQHIGH 23 26 49 1 65 66 G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 84789|57110 3 192960152 192960152 89 ALL relapse snv GAK missense V322M NM_005255 10-PAPNFY GAK MISSENSE SNP Somatic 11 0.341 SQHIGH 15 30 45 0 44 44 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 2580 4 887191 887191 50 ALL relapse snv WHSC1 missense E1099K NM_133330 10-PAPNFY WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET -4 0.065 SQHIGH 15 56 71 1 79 80 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 7468 4 1962801 1962801 43 ALL relapse snv ANTXR2 missense G153V NM_058172 10-PAPNFY ANTXR2 MISSENSE SNP Somatic 13 0.439 SQHIGH 11 22 33 0 35 35 Cosmic_Gene C C A C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 118429 4 80976542 80976542 39 ALL relapse snv HSD17B13 missense R71H NM_178135 10-PAPNFY HSD17B13 INTRON,MISSENSE SNP Somatic -6 0.057 SQHIGH 5 34 39 0 58 58 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 345275 4 88239587 88239587 20 ALL relapse snv MYOZ2 missense R61C NM_016599 10-PAPNFY MYOZ2 MISSENSE SNP Somatic PFAM:PF05556:Calsarcin -16 0.025 4 25 29 0 32 32 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 51778 4 120072131 120072131 13 ALL relapse snv SH3RF1 missense D294Y NM_020870 10-PAPNFY SH3RF1 MISSENSE SNP Somatic -3 0.070 SQHIGH 4 16 20 0 38 38 Cosmic_Gene C C A C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 57630 4 170057657 170057657 19 ALL relapse snv WWC2 missense V1112M NM_024949 10-PAPNFY WWC2 MISSENSE SNP Somatic 13 0.439 SQHIGH 13 26 39 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 80014 4 184210738 184210738 53 ALL relapse snv AHRR missense R453C NM_020731 10-PAPNFY AHRR MISSENSE SNP dbsnp.132:rs111768223 Somatic 19 0.941 SQHIGH 19 19 38 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 57491 5 434146 434146 72 ALL relapse snv FAM159B missense R26W NM_001164442 10-PAPNFY FAM159B MISSENSE SNP Somatic 5 0.159 SQHIGH 8 20 28 1 30 31 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 100132916 5 63986526 63986526 21 ALL relapse snv ARHGEF28 missense R42P NM_001080479 10-PAPNFY ARHGEF28 MISSENSE SNP Somatic 6 0.192 SQHIGH 15 44 59 1 64 65 G G C G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 64283 5 73045753 73045753 43 ALL relapse snv HMGCR missense R443Q NM_000859 10-PAPNFY HMGCR MISSENSE SNP Somatic -1 0.083 SQHIGH 8 32 40 0 61 61 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 3156 5 74647387 74647387 34 ALL relapse snv SLCO6A1 splice_region G120_E1splice_region NM_173488 10-PAPNFY SLCO6A1 DONOR SNP Somatic 6 0.192 SQHIGH 17 40 57 0 59 59 Cosmic_Gene C C G C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 133482 5 101834188 101834188 59 ALL relapse snv ADAMTS19 missense R1030H NM_133638 10-PAPNFY ADAMTS19 MISSENSE SNP Somatic -15 0.027 6 25 31 0 24 24 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 171019 5 129037233 129037233 16 ALL relapse snv PCDHB5 missense A64V NM_015669 10-PAPNFY PCDHB5 MISSENSE SNP Somatic 15 0.624 SQHIGH 28 26 54 0 63 63 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 26167 5 140515207 140515207 116 ALL relapse snv DOCK2 splice A901A NM_004946 10-PAPNFY DOCK2 SYNONYMOUS SNP Somatic -4 0.065 SQHIGH 8 51 59 0 63 63 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 1794 5 169230210 169230210 26 ALL relapse snv ITPR3 silent R2309R NM_002224 10-PAPNFY ITPR3 SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans 3 0.126 SQHIGH 32 45 77 0 76 76 Cosmic_Gene G G C G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 3710 6 33657870 33657870 113 ALL relapse snv DST nonsense R5644* NM_001144769 10-PAPNFY DST NONSENSE SNP Somatic -3 0.070 SQHIGH 8 47 55 0 65 65 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 667 6 56323901 56323901 28 ALL relapse snv NHSL1 missense V276I NM_020464 10-PAPNFY NHSL1 MISSENSE SNP Somatic 7 0.219 SQHIGH 22 59 81 0 70 70 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 57224 6 138754668 138754668 66 ALL relapse snv HYMAI EXON E1_exon NM_002656 10-PAPNFY PLAGL1|HYMAI INTRON|UTR SNP Somatic 6 0.192 SQHIGH 8 31 39 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 5325|57061 6 144329131 144329131 21 ALL relapse snv FNDC1 silent A91A NM_032532 10-PAPNFY FNDC1 SYNONYMOUS SNP Somatic PFAM:PF00041:fn3 9 0.270 SQHIGH 21 37 58 0 40 40 Cosmic_Gene G G C G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 84624 6 159618626 159618626 56 ALL relapse snv LPA splice A982_E19splice NM_005577 10-PAPNFY LPA MISSENSE SNP dbsnp.134:rs139937718 Somatic 8 0.243 SQHIGH 21 63 84 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 4018 6 161026078 161026078 41 ALL relapse snv RPS6KA2 silent S505S NM_021135 10-PAPNFY RPS6KA2 SYNONYMOUS SNP dbsnp.134:rs140163975 Somatic PFAM:PF03109:ABC1 3 0.126 SQHIGH 15 38 53 2 44 46 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 6196 6 166844007 166844007 29 ALL relapse snv HECW1 silent G765G NM_015052 10-PAPNFY HECW1 SYNONYMOUS SNP Somatic 7 0.219 SQHIGH 9 13 22 1 21 22 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 23072 7 43485066 43485066 23 ALL relapse snv DOCK4-AS1 EXON E27_exon NM_014705 10-PAPNFY DOCK4|LOC100506413 INTRON|UTR SNP Somatic 7 0.219 SQHIGH 15 40 55 0 58 58 Cosmic_Gene G G T G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 9732|100506413 7 111459907 111459907 52 ALL relapse snv RNF148 silent C209C NM_198085 10-PAPNFY RNF133|CADPS2|RNF148 TSS-UPSTREAM|INTRON|SYNONYMOUS SNP Somatic 11 0.341 SQHIGH 12 37 49 0 56 56 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 168433|93664|378925 7 122342178 122342178 43 ALL relapse snv GRM8 missense C538F NM_000845 10-PAPNFY GRM8 MISSENSE,UTR SNP Somatic PFAM:PF07562:NCD3G -10 0.043 SQHIGH 4 43 47 0 58 58 Cosmic_Gene C C A C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 2918 7 126173823 126173823 14 ALL relapse snv GRM8 missense H537P NM_000845 10-PAPNFY GRM8 MISSENSE,UTR SNP Somatic PFAM:PF07562:NCD3G -10 0.043 SQHIGH 4 44 48 0 61 61 Cosmic_Gene T T G T T TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 2918 7 126173826 126173826 15 ALL relapse snv SSPO missense R3517H NM_198455 10-PAPNFY SSPO MISSENSE SNP Somatic 4 0.143 SQHIGH 12 25 37 0 53 53 G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 23145 7 149512000 149512000 52 ALL relapse snv CNGB3 missense R478Q NM_019098 10-PAPNFY CNGB3 MISSENSE SNP Somatic 6 0.192 SQHIGH 15 39 54 0 56 56 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 54714 8 87641194 87641194 51 ALL relapse snv COL14A1 missense R1725Q NM_021110 10-PAPNFY COL14A1 MISSENSE SNP Somatic -29 0.006 6 73 79 0 61 61 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 7373 8 121381587 121381587 15 ALL relapse snv CDKN2A nonsense R80* NM_000077 10-PAPNFY CDKN2A UTR3,MISSENSE,NONSENSE SNP dbsnp.133:rs121913388 Somatic -4 0.065 SQHIGH 6 25 31 0 37 37 COSMIC:mut:99935,COSMIC:mut:12475,COSMIC:mut:99191 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 1029 9 21971120 21971120 22 ALL relapse snv NXNL2 silent A34A NM_001161625 10-PAPNFY NXNL2 SYNONYMOUS SNP Somatic -1 0.083 SQHIGH 7 23 30 0 31 31 G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 158046 9 91150451 91150451 23 ALL relapse snv HMCN2 splice_region W3447_E69splice_region NM_001291815 10-PAPNFY SNP Somatic 14 0.513 SQHIGH 10 22 32 0 83 83 G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 9 133279122 133279122 61 ALL relapse snv NOXA1 missense V460M NM_006647 10-PAPNFY NOXA1 MISSENSE SNP Somatic 11 0.341 SQHIGH 28 30 58 0 47 47 G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 10811 9 140328738 140328738 89 ALL relapse snv CFAP58 missense R620H NM_001008723 10-PAPNFY CFAP58 MISSENSE SNP Somatic 9 0.270 SQHIGH 13 31 44 0 53 53 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 159686 10 106160481 106160481 50 ALL relapse snv KIAA1598 missense G572S NM_001127211 10-PAPNFY KIAA1598 UTR3,MISSENSE SNP Somatic 3 0.126 SQHIGH 9 45 54 0 59 59 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 57698 10 118646037 118646037 31 ALL relapse snv FOXI2 nonsense R192* NM_207426 10-PAPNFY FOXI2 NONSENSE SNP Somatic 4 0.143 SQHIGH 15 57 72 2 61 63 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 399823 10 129536846 129536846 28 ALL relapse snv DEAF1 missense R509Q NM_021008 10-PAPNFY DEAF1 MISSENSE SNP Somatic PFAM:PF01753:zf-MYND -2 0.076 SQHIGH 17 23 40 0 44 44 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 10522 11 654029 654029 65 ALL relapse snv MUC5B missense R5462H NM_002458 10-PAPNFY MUC5B MISSENSE SNP dbsnp.134:rs143587302 Somatic -2 0.076 SQHIGH 5 28 33 0 43 43 G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 727897 11 1278875 1278875 19 ALL relapse snv OR52B2 missense S2R NM_001004052 10-PAPNFY OR52B2 MISSENSE SNP Somatic 14 0.513 SQHIGH 39 40 79 0 88 88 T T G T T TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 255725 11 6191553 6191553 156 ALL relapse snv CHST1 silent T349T NM_003654 10-PAPNFY CHST1 SYNONYMOUS SNP dbsnp.134:rs148878468 Somatic PFAM:PF00685:Sulfotransfer_1 4 0.143 SQHIGH 13 39 52 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 8534 11 45671427 45671427 42 ALL relapse snv MAP6 missense A413T NM_033063 10-PAPNFY MAP6 MISSENSE SNP Somatic PFAM:PF05217:STOP 2 0.114 SQHIGH 12 48 60 0 58 58 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 4135 11 75316932 75316932 38 ALL relapse snv CARD17 missense E19K NM_001007232 10-PAPNFY CARD17 MISSENSE SNP dbsnp.134:rs145180818 Somatic 6 0.192 SQHIGH 13 40 53 1 62 63 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 440068 11 104971459 104971459 39 ALL relapse snv C11orf52 missense A100T NM_080659 10-PAPNFY C11orf52|HSPB2-C11orf52 MISSENSE|UTR SNP Somatic -3 0.070 SQHIGH 11 55 66 0 53 53 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 91894|100528019 11 111796849 111796849 30 ALL relapse snv POU2F3 splice_region G210_E8splice_region NM_014352 10-PAPNFY POU2F3 ACCEPTOR SNP Somatic 7 0.219 SQHIGH 25 30 55 0 82 82 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 25833 11 120176347 120176347 117 ALL relapse snv KRAS missense G13D NM_033360 10-PAPNFY KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic 17 0.836 SQHIGH 15 13 28 0 48 48 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 3845 12 25398281 25398281 79 ALL relapse snv ITPR2 missense Y732H NM_002223 10-PAPNFY ITPR2 MISSENSE SNP Somatic 2 0.114 SQHIGH 11 44 55 0 62 62 Cosmic_Gene A A G A A TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 3709 12 26809480 26809480 39 ALL relapse snv ARID2 missense R1754Q NM_152641 10-PAPNFY ARID2 MISSENSE SNP Somatic 18 0.882 SQHIGH 13 21 34 0 43 43 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 196528 12 46287316 46287316 53 ALL relapse snv STARD13 silent A858A NM_178006 10-PAPNFY STARD13 SYNONYMOUS SNP dbsnp.134:rs144484936 Somatic 6 0.192 SQHIGH 9 23 32 0 49 49 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 90627 13 33685948 33685948 40 ALL relapse snv IRF9 missense G27R NM_006084 10-PAPNFY IRF9 MISSENSE SNP Somatic 1 0.101 SQHIGH 15 91 106 0 77 77 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 10379 14 24631432 24631432 38 ALL relapse snv HSPA2 missense E306K NM_021979 10-PAPNFY HSPA2 MISSENSE SNP Somatic 5 0.159 SQHIGH 16 45 61 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 3306 14 65008483 65008483 47 ALL relapse snv DISP2 missense E29D NM_033510 10-PAPNFY DISP2 MISSENSE SNP Somatic -1 0.083 SQHIGH 11 11 22 0 24 24 Cosmic_Gene G G C G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 85455 15 40650609 40650609 43 ALL relapse snv BAHD1 splice_region G659_E4splice_region NM_014952 10-PAPNFY BAHD1 DONOR SNP Somatic 13 0.439 SQHIGH 33 26 59 0 75 75 C C G C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 22893 15 40756223 40756223 148 ALL relapse snv UACA silent A141A NM_018003 10-PAPNFY UACA SYNONYMOUS SNP Somatic PFAM:PF12796:Ank_2 -3 0.070 SQHIGH 4 25 29 0 33 33 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 55075 15 70982794 70982794 14 ALL relapse snv CAPN15 missense D566H NM_005632 10-PAPNFY CAPN15 MISSENSE SNP Somatic 19 0.941 SQHIGH 15 13 28 0 38 38 Cosmic_Gene G G C G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 6650 16 599325 599325 69 ALL relapse snv CREBBP missense R1446C NM_004380 10-PAPNFY CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 14 0.513 SQHIGH 31 11 42 1 52 53 COSMIC:mut:88749 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 1387 16 3788618 3788618 139 ALL relapse snv ZKSCAN2 missense R255W NM_001012981 10-PAPNFY ZKSCAN2 MISSENSE SNP Somatic PFAM:PF01352:KRAB 14 0.513 SQHIGH 11 23 34 0 28 28 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 342357 16 25263272 25263272 32 ALL relapse snv MMP2 splice A336_E6splice NM_004530 10-PAPNFY MMP2 MISSENSE SNP Somatic 2 0.114 SQHIGH 22 42 64 0 53 53 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 4313 16 55522628 55522628 66 ALL relapse snv CDYL2 missense A302T NM_152342 10-PAPNFY CDYL2 MISSENSE SNP Somatic 1 0.101 SQHIGH 6 19 25 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 124359 16 80654763 80654763 27 ALL relapse snv ZNF287 missense Q302H NM_020653 10-PAPNFY ZNF287 MISSENSE SNP Somatic -5 0.061 SQHIGH 5 29 34 0 33 33 T T G T T TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 57336 17 16456550 16456550 15 ALL relapse snv ZNF624 missense A513T NM_020787 10-PAPNFY ZNF624 MISSENSE SNP Somatic -3 0.070 SQHIGH 9 52 61 1 56 57 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 57547 17 16526663 16526663 20 ALL relapse snv MED13 missense L1742F NM_005121 10-PAPNFY MED13 MISSENSE SNP Somatic PFAM:PF06333:Med13_C 7 0.219 SQHIGH 14 39 53 0 44 44 Cosmic_Gene T T A T T TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 9969 17 60038979 60038979 41 ALL relapse snv TMC6 splice_region L733_E18splice_region NM_001127198 10-PAPNFY TMC6 ACCEPTOR SNP Somatic 3 0.126 SQHIGH 12 47 59 2 66 68 C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 11322 17 76113432 76113432 27 ALL relapse snv TCF4 silent S140S NM_001083962 10-PAPNFY TCF4 SYNONYMOUS SNP Somatic -6 0.057 SQHIGH 5 43 48 0 49 49 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 6925 18 53018184 53018184 16 ALL relapse snv NEDD4L missense R774H NM_001144966 10-PAPNFY NEDD4L MISSENSE SNP Somatic -18 0.020 4 38 42 0 48 48 COSMIC:mut:94812 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 23327 18 56057906 56057906 14 ALL relapse snv C2CD4C missense V363M NM_001136263 10-PAPNFY C2CD4C MISSENSE SNP Somatic 12 0.387 SQHIGH 15 27 42 0 42 42 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 126567 19 407275 407275 52 ALL relapse snv ZNF557 missense R169Q NM_024341 10-PAPNFY ZNF557 MISSENSE SNP Somatic 12 0.387 SQHIGH 12 36 48 0 50 50 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 79230 19 7082968 7082968 41 ALL relapse snv FBN3 missense E625K NM_032447 10-PAPNFY FBN3 MISSENSE SNP dbsnp.134:rs138440561 Somatic 6 0.192 SQHIGH 21 46 67 0 70 70 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 84467 19 8196555 8196555 73 ALL relapse snv MUC16 missense T10557N NM_024690 10-PAPNFY MUC16 MISSENSE SNP Somatic 7 0.219 SQHIGH 16 55 71 0 73 73 Cosmic_Gene G G T G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 94025 19 9049961 9049961 53 ALL relapse snv MUC16 missense V6108I NM_024690 10-PAPNFY MUC16 MISSENSE SNP Somatic -3 0.070 SQHIGH 8 45 53 0 53 53 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 94025 19 9069124 9069124 25 ALL relapse snv KCNN1 missense R103Q NM_002248 10-PAPNFY KCNN1 MISSENSE SNP Somatic PFAM:PF03530:SK_channel 1 0.101 SQHIGH 16 31 47 0 58 58 G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 3780 19 18085005 18085005 63 ALL relapse snv PDE4C silent A338A NM_000923 10-PAPNFY PDE4C SYNONYMOUS SNP Somatic 5 0.159 SQHIGH 12 40 52 0 69 69 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 5143 19 18329801 18329801 48 ALL relapse snv PEPD missense R437H NM_000285 10-PAPNFY PEPD MISSENSE SNP Somatic -7 0.052 SQHIGH 5 38 43 0 61 61 Cosmic_Gene C C T C C TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 5184 19 33878830 33878830 20 ALL relapse snv NAT14 missense V101M NM_020378 10-PAPNFY NAT14|SSC5D MISSENSE|TSS-UPSTREAM SNP Somatic -4 0.065 SQHIGH 4 11 15 0 26 26 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 57106|284297 19 55998003 55998003 19 ALL relapse snv NLRP8 missense R118H NM_176811 10-PAPNFY NLRP8 MISSENSE SNP Somatic 6 0.192 SQHIGH 12 43 55 0 58 58 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 126205 19 56459621 56459621 41 ALL relapse snv GGT7 silent V254V NM_178026 10-PAPNFY GGT7 SYNONYMOUS SNP Somatic PFAM:PF01019:G_glu_transpept 2 0.114 SQHIGH 5 24 29 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 2686 20 33447827 33447827 16 ALL relapse snv TCF20 silent G503G NM_005650 10-PAPNFY TCF20 SYNONYMOUS SNP Somatic -6 0.057 SQHIGH 5 40 45 0 56 56 Cosmic_Gene G G A G G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 6942 22 42609803 42609803 18 ALL relapse mnv SLC22A6 missense G73_Q74>CG NM_004790 10-PAPNFY SLC22A6 MISSENSE Sub Somatic -3 0.379 SQHIGH 3 23 26 0 44 44 TGCCC TGCCC CCGCA TGCCC TGCCC TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 9356 11 62751942 62751946 13 ALL diagnosis snv PLEKHN1 missense R468H NM_032129 10-PAPNMY PLEKHN1 MISSENSE SNP Somatic 17 0.827 SQHIGH 23 24 47 0 41 41 G G A G G TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 84069 1 908989 908989 77 ALL diagnosis snv PHC2 splice P586P NM_198040 10-PAPNMY PHC2|MIR3605 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -9 0.047 SQHIGH 7 53 60 1 87 88 Cosmic_Gene C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 1912|100500853 1 33799691 33799691 21 ALL diagnosis snv RFWD2 missense G109S NM_022457 10-PAPNMY RFWD2 MISSENSE SNP Somatic 3 0.128 SQHIGH 11 9 20 0 16 16 C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 64326 1 176175790 176175790 36 ALL diagnosis snv XIRP2 missense R510C NM_001079810 10-PAPNMY XIRP2 UTR3,MISSENSE SNP Somatic 21 1.000 SQHIGH 17 20 37 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 129446 2 168114584 168114584 64 ALL diagnosis snv SP5 silent L347L NM_001003845 10-PAPNMY LOC440925|SP5 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 7 0.206 SQHIGH 10 11 21 0 18 18 Cosmic_Gene G G A G G TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 440925|389058 2 171573758 171573758 33 ALL diagnosis snv ZAK missense N95K NM_016653 10-PAPNMY ZAK MISSENSE SNP Somatic PFAM:PF03109:ABC1 -4 0.068 SQHIGH 4 18 22 0 36 36 Cosmic_Gene C C G C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 51776 2 174047619 174047619 18 ALL diagnosis snv ZAK missense S96R NM_016653 10-PAPNMY ZAK MISSENSE SNP Somatic PFAM:PF03109:ABC1 0 0.096 SQHIGH 5 22 27 0 31 31 Cosmic_Gene T T G T T TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 51776 2 174047622 174047622 18 ALL diagnosis snv GRM2 missense R665W NM_000839 10-PAPNMY GRM2 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 14 0.521 SQHIGH 20 25 45 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 2912 3 51749782 51749782 50 ALL diagnosis snv ADAD1 missense E301K NM_139243 10-PAPNMY ADAD1 MISSENSE SNP Somatic PFAM:PF02137:A_deamin 9 0.260 SQHIGH 19 16 35 0 36 36 G G A G G TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 132612 4 123332429 123332429 73 ALL diagnosis snv SNX25 missense G365E NM_031953 10-PAPNMY SNX25 MISSENSE SNP Somatic 19 0.938 SQHIGH 14 9 23 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 83891 4 186244791 186244791 65 ALL diagnosis snv SYNJ2 missense V233M NM_003898 10-PAPNMY SYNJ2 UTR5,MISSENSE SNP dbsnp.134:rs140077439 Somatic PFAM:PF02383:Syja_N 21 1.000 SQHIGH 20 16 36 0 33 33 Cosmic_Gene G G A G G TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 8871 6 158454698 158454698 72 ALL diagnosis snv FBXO43 missense F162L NM_001029860 10-PAPNMY FBXO43 MISSENSE,UTR SNP Somatic 16 0.710 SQHIGH 29 29 58 0 49 49 Cosmic_Gene A A G A A TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 286151 8 101153998 101153998 96 ALL diagnosis snv RIC1 splice_region D301_E9splice_region NM_020829 10-PAPNMY RIC1 ACCEPTOR SNP Somatic 20 0.983 SQHIGH 15 18 33 0 41 41 C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 57589 9 5742861 5742861 62 ALL diagnosis snv PRUNE2 splice G170_E5splice NM_015225 10-PAPNMY PRUNE2 ACCEPTOR SNP Somatic 15 0.636 SQHIGH 27 27 54 1 62 63 G G A G G TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 158471 9 79441651 79441651 98 ALL diagnosis snv RABL6 missense C491S NM_024718 10-PAPNMY RABL6 MISSENSE SNP Somatic -8 0.050 SQHIGH 4 18 22 0 23 23 T T A T T TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 55684 9 139733551 139733551 13 ALL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 10-PAPNMY KCNQ1 INTRON SNP Somatic 15 0.636 SQHIGH 42 43 85 1 62 65 Cosmic_Gene C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 3784 11 2646776 2646776 113 ALL diagnosis snv STK33 silent L239L NM_030906 10-PAPNMY STK33 SYNONYMOUS SNP Somatic 17 0.827 SQHIGH 18 24 42 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 65975 11 8476360 8476360 62 ALL diagnosis snv ARHGAP42 missense P626L NM_152432 10-PAPNMY ARHGAP42 MISSENSE SNP Somatic 15 0.636 SQHIGH 14 23 37 0 28 28 C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 143872 11 100846809 100846809 40 ALL diagnosis snv ZNF385A silent F33F NM_001130967 10-PAPNMY ZNF385A SYNONYMOUS SNP Somatic 17 0.827 SQHIGH 20 21 41 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 25946 12 54778260 54778260 74 ALL diagnosis snv MYH7 splice F244_E8splice NM_000257 10-PAPNMY MYH7 DISRUPT SNP Somatic 8 0.232 SQHIGH 28 39 67 0 67 67 Cosmic_Gene C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 4625 14 23900793 23900793 100 ALL diagnosis snv RPS6KL1 missense E513A NM_031464 10-PAPNMY RPS6KL1 MISSENSE SNP Somatic -7 0.054 SQHIGH 5 34 39 0 28 28 Cosmic_Gene T T G T T TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 83694 14 75374139 75374139 12 ALL diagnosis snv DRC7 silent R623R NM_032269 10-PAPNMY DRC7 SYNONYMOUS SNP Somatic 3 0.128 SQHIGH 24 29 53 0 47 47 Cosmic_Gene T T C T T TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 84229 16 57760090 57760090 80 ALL diagnosis snv DNAH9 missense R318C NM_001372 10-PAPNMY DNAH9 MISSENSE SNP dbsnp.134:rs145637052 Somatic PFAM:PF08385:DHC_N1 0 0.096 SQHIGH 28 4 32 2 43 45 Cosmic_Gene C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 1770 17 11520775 11520775 138 ALL diagnosis snv METTL4 missense T190S NM_022840 10-PAPNMY METTL4 MISSENSE SNP Somatic 13 0.443 SQHIGH 17 27 44 0 40 40 Cosmic_Gene T T A T T TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 64863 18 2554929 2554929 56 ALL diagnosis snv DSG4 missense E187K NM_001134453 10-PAPNMY DSG4 MISSENSE SNP Somatic 11 0.336 SQHIGH 18 12 30 0 29 29 Cosmic_Gene G G A G G TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 147409 18 28970660 28970660 69 ALL diagnosis snv ATP1A3 missense A12T NM_001256214 10-PAPNMY ATP1A3 ACCEPTOR SNP Somatic 15 0.636 SQHIGH 36 43 79 1 60 61 Cosmic_Gene C C T C C TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 478 19 42492726 42492726 96 ALL diagnosis snv APOE missense D169N NM_000041 10-PAPNMY APOE MISSENSE SNP Somatic PFAM:PF01442:Apolipoprotein 6 0.176 SQHIGH 11 11 22 0 17 17 G G A G G TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 348 19 45412058 45412058 34 ALL diagnosis snv SH3BGR silent G175G NM_007341 10-PAPNMY SH3BGR SYNONYMOUS SNP Somatic -7 0.054 SQHIGH 23 161 184 0 52 52 T T C T T TARGET-10-PAPNMY-09A-01D TARGET-10-PAPNMY-10A-01D 6450 21 40871772 40871772 26 ALL relapse snv PLEKHN1 missense R468H NM_032129 10-PAPNMY PLEKHN1 MISSENSE SNP Somatic 11 0.348 SQHIGH 14 26 40 0 41 41 G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 84069 1 908989 908989 49 ALL relapse snv PRPF38A missense K129E NM_032864 10-PAPNMY ORC1|PRPF38A TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03371:PRP38 0 0.103 SQHIGH 11 54 65 0 72 72 Cosmic_Gene A A G A A TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 4998|84950 1 52874335 52874335 38 ALL relapse snv RFWD2 missense G109S NM_022457 10-PAPNMY RFWD2 MISSENSE SNP Somatic -1 0.094 SQHIGH 5 16 21 0 16 16 C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 64326 1 176175790 176175790 13 ALL relapse snv PIK3C2B missense R817H NM_002646 10-PAPNMY PIK3C2B MISSENSE SNP Somatic 8 0.244 SQHIGH 25 41 66 0 55 55 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 5287 1 204416603 204416603 77 ALL relapse snv STON1 missense P95R NM_006873 10-PAPNMY STON1-GTF2A1L|STON1 MISSENSE|MISSENSE SNP Somatic -7 0.056 SQHIGH 8 59 67 0 56 56 Cosmic_Gene C C G C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 286749|11037 2 48808056 48808056 22 ALL relapse snv XIRP2 missense R510C NM_001079810 10-PAPNMY XIRP2 UTR3,MISSENSE SNP Somatic 13 0.455 SQHIGH 16 27 43 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 129446 2 168114584 168114584 52 ALL relapse snv SP5 silent L347L NM_001003845 10-PAPNMY LOC440925|SP5 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -5 0.067 SQHIGH 5 17 22 0 18 18 Cosmic_Gene G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 440925|389058 2 171573758 171573758 14 ALL relapse snv FAM198A nonsense R359* NM_001129908 10-PAPNMY FAM198A NONSENSE SNP Somatic -3 0.078 SQHIGH 8 44 52 0 40 40 C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 729085 3 43074830 43074830 21 ALL relapse snv COL7A1 missense E56K NM_000094 10-PAPNMY COL7A1 MISSENSE SNP Somatic 10 0.308 SQHIGH 17 25 42 0 53 53 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 1294 3 48631901 48631901 70 ALL relapse snv GRM2 missense R665W NM_000839 10-PAPNMY GRM2 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 14 0.533 SQHIGH 24 29 53 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 2912 3 51749782 51749782 53 ALL relapse snv OCIAD2 missense K109T NM_001014446 10-PAPNMY OCIAD2 INTRON,MISSENSE SNP Somatic PFAM:PF07051:OCIA 13 0.455 SQHIGH 10 24 34 0 33 33 T T G T T TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 132299 4 48894846 48894846 33 ALL relapse snv ADAD1 missense E301K NM_139243 10-PAPNMY ADAD1 MISSENSE SNP Somatic PFAM:PF02137:A_deamin 8 0.244 SQHIGH 20 24 44 0 36 36 G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 132612 4 123332429 123332429 63 ALL relapse snv SNX25 missense G365E NM_031953 10-PAPNMY SNX25 MISSENSE SNP Somatic 16 0.713 SQHIGH 10 19 29 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 83891 4 186244791 186244791 35 ALL relapse snv ITGA1 missense M1157R NM_181501 10-PAPNMY ITGA1 MISSENSE SNP Somatic 15 0.640 SQHIGH 12 9 21 0 22 22 Cosmic_Gene T T G T T TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 3672 5 52243266 52243266 47 ALL relapse snv DCDC2 silent D348D NM_016356 10-PAPNMY DCDC2 SYNONYMOUS SNP dbsnp.134:rs143313706 Somatic 3 0.139 SQHIGH 12 41 53 0 50 50 Cosmic_Gene G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 51473 6 24178840 24178840 38 ALL relapse snv SYNJ2 missense V233M NM_003898 10-PAPNMY SYNJ2 UTR5,MISSENSE SNP dbsnp.134:rs140077439 Somatic PFAM:PF02383:Syja_N 4 0.153 SQHIGH 11 33 44 0 33 33 Cosmic_Gene G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 8871 6 158454698 158454698 29 ALL relapse snv PURB silent A208A NM_033224 10-PAPNMY MIR4657|PURB TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF04845:PurA 0 0.103 SQHIGH 8 7 15 0 33 33 G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 100616393|5814 7 44924324 44924324 48 ALL relapse snv IKZF1 missense G158S NM_006060 10-PAPNMY IKZF1 INTRON,TSS-UPSTREAM,MISSENSE SNP Somatic 15 0.640 SQHIGH 24 17 41 0 55 55 Cosmic_Gene G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 10320 7 50450288 50450288 112 ALL relapse snv ZNF92 missense R109P NM_007139 10-PAPNMY ZNF92 MISSENSE SNP Somatic 14 0.533 SQHIGH 6 17 23 0 46 46 G G C G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 168374 7 64863560 64863560 31 ALL relapse snv ZKSCAN5 missense E447K NM_014569 10-PAPNMY ZKSCAN5 MISSENSE SNP Somatic 12 0.398 SQHIGH 13 33 46 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 23660 7 99124002 99124002 40 ALL relapse snv ADRA1A silent C149C NM_000680 10-PAPNMY ADRA1A SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx -1 0.094 SQHIGH 9 42 51 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 148 8 26722040 26722040 34 ALL relapse snv FBXO43 missense F162L NM_001029860 10-PAPNMY FBXO43 MISSENSE,UTR SNP Somatic 17 0.840 SQHIGH 22 25 47 0 49 49 Cosmic_Gene A A G A A TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 286151 8 101153998 101153998 83 ALL relapse snv RIC1 splice_region D301_E9splice_region NM_020829 10-PAPNMY RIC1 ACCEPTOR SNP Somatic 13 0.455 SQHIGH 17 29 46 0 41 41 C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 57589 9 5742861 5742861 55 ALL relapse snv PRUNE2 splice G170_E5splice NM_015225 10-PAPNMY PRUNE2 ACCEPTOR SNP Somatic 14 0.533 SQHIGH 18 26 44 1 62 63 G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 158471 9 79441651 79441651 69 ALL relapse snv FBP2 missense V182M NM_003837 10-PAPNMY FBP2 MISSENSE SNP Somatic 0 0.103 SQHIGH 10 47 57 0 44 44 C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 8789 9 97333767 97333767 26 ALL relapse snv ODF2 splice_region K411_E12splice_region NM_153437 10-PAPNMY ODF2 DONOR SNP Somatic -1 0.094 SQHIGH 10 46 56 0 48 48 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 4957 9 131247168 131247168 29 ALL relapse snv PTPRE nonsense R369* NM_006504 10-PAPNMY PTPRE NONSENSE SNP Somatic 7 0.219 SQHIGH 24 72 96 0 103 103 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 5791 10 129868053 129868053 83 ALL relapse snv KCNQ1OT1 EXON E10_exon NM_000218 10-PAPNMY KCNQ1 INTRON SNP Somatic 5 0.169 SQHIGH 23 49 72 1 62 65 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 3784 11 2646776 2646776 60 ALL relapse snv STK33 silent L239L NM_030906 10-PAPNMY STK33 SYNONYMOUS SNP Somatic 8 0.244 SQHIGH 8 19 27 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 65975 11 8476360 8476360 35 ALL relapse snv ARHGAP42 missense P626L NM_152432 10-PAPNMY ARHGAP42 MISSENSE SNP Somatic 15 0.640 SQHIGH 15 16 31 0 28 28 C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 143872 11 100846809 100846809 51 ALL relapse snv ZNF385A silent F33F NM_001130967 10-PAPNMY ZNF385A SYNONYMOUS SNP Somatic 12 0.398 SQHIGH 13 31 44 0 41 41 Cosmic_Gene G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 25946 12 54778260 54778260 42 ALL relapse snv MYH7 splice F244_E8splice NM_000257 10-PAPNMY MYH7 DISRUPT SNP Somatic 5 0.169 SQHIGH 18 46 64 0 67 67 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 4625 14 23900793 23900793 62 ALL relapse snv FOXA1 missense A92T NM_004496 10-PAPNMY FOXA1 MISSENSE SNP Somatic PFAM:PF08430:Fork_head_N 7 0.219 SQHIGH 11 11 22 0 29 29 C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 3169 14 38061715 38061715 48 ALL relapse snv DRC7 silent R623R NM_032269 10-PAPNMY DRC7 SYNONYMOUS SNP Somatic 3 0.139 SQHIGH 9 18 27 0 47 47 Cosmic_Gene T T C T T TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 84229 16 57760090 57760090 44 ALL relapse snv DNAH9 missense R318C NM_001372 10-PAPNMY DNAH9 MISSENSE SNP dbsnp.134:rs145637052 Somatic PFAM:PF08385:DHC_N1 0 0.103 SQHIGH 24 20 44 2 43 45 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 1770 17 11520775 11520775 71 ALL relapse snv CCDC40 missense E792Q NM_017950 10-PAPNMY CCDC40 MISSENSE SNP Somatic PFAM:PF08647:BRE1 6 0.192 SQHIGH 8 28 36 0 26 26 Cosmic_Gene G G C G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 55036 17 78059940 78059940 20 ALL relapse snv SMARCA4 missense S730P NM_001128849 10-PAPNMY SMARCA4 MISSENSE SNP Somatic 6 0.192 SQHIGH 17 37 54 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 6597 19 11121121 11121121 43 ALL relapse snv ATP1A3 missense A12T NM_001256214 10-PAPNMY ATP1A3 ACCEPTOR SNP Somatic 6 0.192 SQHIGH 20 44 64 1 60 61 Cosmic_Gene C C T C C TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 478 19 42492726 42492726 55 ALL relapse snv APOE missense D169N NM_000041 10-PAPNMY APOE MISSENSE SNP Somatic PFAM:PF01442:Apolipoprotein 5 0.169 SQHIGH 7 17 24 0 17 17 G G A G G TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 348 19 45412058 45412058 18 ALL relapse complex TP53 proteinDel D335_W338>EER NM_001126113 10-PAPNMY TP53 UTR3,DELETE+,INTRON Sub Somatic -7 0.283 SQHIGH 9 9 18 0 71 71 Cosmic_Gene CATCGTAAG CATCGTAAG CTTTCT CATCGTAAG CATCGTAAG TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 7157 17 7576565 7576573 71 ALL relapse mnv TP53 missense L334P NM_001126113 10-PAPNMY TP53 UTR3,INTRON,MISSENSE Sub Somatic 1 0.655 SQHIGH 9 9 18 0 56 56 Cosmic_Gene AA AA GG AA AA TARGET-10-PAPNMY-40A-01D TARGET-10-PAPNMY-10A-01D 7157 17 7576576 7576577 64 ALL diagnosis snv JAK2 missense D873N NM_004972 10-PAPPGN JAK2 MISSENSE SNP Somatic 5 0.255 SQHIGH 6 14 20 0 22 22 Cosmic_Gene G G A G G TARGET-10-PAPPGN-03A-01D TARGET-10-PAPPGN-14A-01D 3717 9 5089719 5089719 21 ALL diagnosis snv TMC1 splice A295_E13splice NM_138691 10-PAPPGN TMC1 MISSENSE SNP Somatic -9 0.059 SQHIGH 10 33 43 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPPGN-03A-01D TARGET-10-PAPPGN-14A-01D 117531 9 75387471 75387471 24 ALL diagnosis snv ZNF268 silent S732S NM_003415 10-PAPPGN ZNF268 UTR3,SYNONYMOUS SNP Somatic 2 0.184 SQHIGH 14 45 59 1 64 65 Cosmic_Gene C C A C C TARGET-10-PAPPGN-03A-01D TARGET-10-PAPPGN-14A-01D 10795 12 133780468 133780468 39 ALL diagnosis snv RAI1 missense D325A NM_030665 10-PAPPGN RAI1 MISSENSE SNP Somatic -10 0.055 SQHIGH 4 5 9 0 17 17 Cosmic_Gene A A C A A TARGET-10-PAPPGN-03A-01D TARGET-10-PAPPGN-14A-01D 10743 17 17697236 17697236 21 ALL diagnosis snv TUBB4A missense Y422D NM_006087 10-PAPPGN TUBB4A MISSENSE SNP Somatic -8 0.065 SQHIGH 6 22 28 0 27 27 Cosmic_Gene A A C A A TARGET-10-PAPPGN-03A-01D TARGET-10-PAPPGN-14A-01D 10382 19 6495246 6495246 19 ALL diagnosis snv MEGF8 missense C649R NM_001410 10-PAPPGN MEGF8 MISSENSE SNP Somatic -10 0.055 SQHIGH 3 4 7 0 13 13 Cosmic_Gene T T C T T TARGET-10-PAPPGN-03A-01D TARGET-10-PAPPGN-14A-01D 1954 19 42848833 42848833 15 ALL relapse snv PDE12 missense G85A NM_177966 10-PAPPGN PDE12 MISSENSE SNP Somatic 12 0.537 SQHIGH 19 21 40 0 22 22 G G C G G TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 201626 3 57542360 57542360 45 ALL relapse snv PDE12 missense A90S NM_177966 10-PAPPGN PDE12 MISSENSE SNP Somatic 1 0.152 SQHIGH 9 17 26 0 26 26 G G T G G TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 201626 3 57542374 57542374 31 ALL relapse snv LOC100129931 EXON E14_exon NM_020773 10-PAPPGN LOC100129931|TBC1D14 UTR|UTR3 SNP Somatic 12 0.537 SQHIGH 25 30 55 0 53 53 Cosmic_Gene G G T G G TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 100129931|57533 4 7034210 7034210 88 ALL relapse snv KRAS missense A146T NM_033360 10-PAPPGN KRAS MISSENSE SNP dbsnp.133:rs121913527 Somatic 1 0.152 SQHIGH 7 12 19 1 14 15 COSMIC:mut:19404 Cosmic_Gene C C T C C TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 3845 12 25378562 25378562 13 ALL relapse snv CNTNAP1 silent G1006G NM_003632 10-PAPPGN CNTNAP1 SYNONYMOUS SNP Somatic -6 0.072 SQHIGH 22 21 43 1 41 42 Cosmic_Gene C C T C C TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 8506 17 40847564 40847564 69 ALL relapse snv OR7E24 missense T95M NM_001079935 10-PAPPGN OR7E24 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 12 0.537 SQHIGH 21 24 45 0 36 36 Cosmic_Gene C C T C C TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 26648 19 9362003 9362003 66 ALL relapse snv PSG6 missense T140A NM_002782 10-PAPPGN PSG6 MISSENSE SNP Somatic 14 0.672 SQHIGH 15 3 18 0 25 25 Cosmic_Gene T T C T T TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 5675 19 43420286 43420286 83 ALL relapse snv UCKL1-AS1 EXON E1_exon NM_017859 10-PAPPGN UCKL1-AS1|UCKL1 UTR|INTRON,TSS-UPSTREAM SNP Somatic 11 0.478 SQHIGH 13 27 40 1 22 23 C C A C C TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 100113386|54963 20 62586862 62586862 21 ALL relapse snv PTCHD2 missense L1360P NM_020780 10-PAPRCS PTCHD2 MISSENSE SNP Somatic 8 0.305 SQHIGH 15 20 35 0 43 43 Cosmic_Gene T T C T T TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 57540 1 11596643 11596643 61 ALL relapse snv AKR7A3 silent T206T NM_012067 10-PAPRCS AKR7A3 SYNONYMOUS SNP dbsnp.134:rs145436915 Somatic 7 0.272 SQHIGH 11 33 44 2 49 51 G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 22977 1 19611266 19611266 25 ALL relapse snv CLCA1 missense S729G NM_001285 10-PAPRCS CLCA1 MISSENSE SNP Somatic 0 0.133 SQHIGH 5 34 39 0 34 34 Cosmic_Gene A A G A A TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 1179 1 86964326 86964326 14 ALL relapse snv CDC14A missense G544R NM_003672 10-PAPRCS CDC14A MISSENSE SNP Somatic -4 0.091 SQHIGH 11 47 58 0 66 66 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 8556 1 100964693 100964693 39 ALL relapse snv NRAS missense G13D NM_002524 10-PAPRCS NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 5 0.214 SQHIGH 12 22 34 0 38 38 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 4893 1 115258744 115258744 44 ALL relapse snv KIF21B missense E580K NM_017596 10-PAPRCS KIF21B MISSENSE SNP Somatic 14 0.639 SQHIGH 15 16 31 1 25 26 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 23046 1 200969040 200969040 39 ALL relapse snv ZC3H11A missense K712Q NM_014827 10-PAPRCS ZC3H11A MISSENSE SNP Somatic 9 0.342 SQHIGH 8 16 24 0 45 45 Cosmic_Gene A A C A A TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 9877 1 203820212 203820212 41 ALL relapse snv OBSCN missense G4457R NM_001271223 10-PAPRCS OBSCN INTRON SNP Somatic 1 0.145 SQHIGH 18 71 89 1 67 68 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 84033 1 228487118 228487118 38 ALL relapse snv MSH2 nonsense R680* NM_000251 10-PAPRCS MSH2 NONSENSE SNP dbsnp.130:rs63749932 Somatic 11 0.436 SQHIGH 16 32 48 0 43 43 COSMIC:mut:27628 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 4436 2 47703538 47703538 51 ALL relapse snv MSH6 nonsense R482* NM_000179 10-PAPRCS MSH6 NONSENSE SNP dbsnp.130:rs63750909 Somatic PFAM:PF01624:MutS_I 2 0.160 SQHIGH 11 53 64 0 60 60 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 2956 2 48026566 48026566 34 ALL relapse snv MSH6 missense R772Q NM_000179 10-PAPRCS MSH6 MISSENSE SNP dbsnp.130:rs63750725 Somatic 3 0.175 SQHIGH 9 39 48 0 55 55 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 2956 2 48027437 48027437 32 ALL relapse snv NCKAP5 missense S1806R NM_207363 10-PAPRCS NCKAP5 MISSENSE SNP Somatic 13 0.558 SQHIGH 9 23 32 0 37 37 G G T G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 344148 2 133489335 133489335 33 ALL relapse snv NEB missense D702N NM_001164507 10-PAPRCS NEB MISSENSE SNP Somatic 6 0.243 SQHIGH 11 29 40 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 4703 2 152548575 152548575 37 ALL relapse snv SCN1A missense R187Q NM_001165963 10-PAPRCS SCN1A MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 10 0.387 SQHIGH 9 18 27 0 46 46 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 6323 2 166911190 166911190 43 ALL relapse snv SLC6A11 missense Y434N NM_014229 10-PAPRCS SLC6A11 MISSENSE SNP Somatic PFAM:PF00209:SNF -4 0.091 SQHIGH 10 61 71 0 60 60 Cosmic_Gene T T A T T TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 6538 3 10970954 10970954 28 ALL relapse snv GDNF-AS1 missense V34L NM_001278094 10-PAPRCS SNP Somatic -2 0.109 SQHIGH 8 53 61 0 53 53 G G C G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 5 37875558 37875558 23 ALL relapse snv AFF4 silent P815P NM_014423 10-PAPRCS AFF4 SYNONYMOUS SNP dbsnp.134:rs138116584 Somatic PFAM:PF05110:AF-4 2 0.160 SQHIGH 7 21 28 1 39 40 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 27125 5 132228048 132228048 22 ALL relapse snv CMTR1 missense P254L NM_015050 10-PAPRCS CMTR1 MISSENSE SNP Somatic PFAM:PF00398:RrnaAD 6 0.243 SQHIGH 16 41 57 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 23070 6 37421072 37421072 53 ALL relapse snv EXOC4 missense R574P NM_021807 10-PAPRCS EXOC4 MISSENSE SNP Somatic -8 0.066 SQHIGH 5 25 30 0 35 35 Cosmic_Gene G G C G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 60412 7 133502284 133502284 18 ALL relapse snv UBN2 splice_region P675_E12splice_region NM_173569 10-PAPRCS UBN2 DONOR SNP Somatic 9 0.342 SQHIGH 10 9 19 0 28 28 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 254048 7 138960898 138960898 47 ALL relapse snv BMP1 missense S659F NM_001199 10-PAPRCS BMP1 MISSENSE,UTR SNP Somatic 0 0.133 SQHIGH 15 59 74 2 53 55 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 649 8 22054802 22054802 24 ALL relapse snv NRG1 missense R492Q NM_013956 10-PAPRCS NRG1 UTR3,MISSENSE SNP Somatic PFAM:PF02158:Neuregulin 0 0.133 SQHIGH 11 44 55 0 51 51 G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 3084 8 32621457 32621457 34 ALL relapse snv MSC nonsense Y155* NM_005098 10-PAPRCS MSC|LOC100132891 NONSENSE|INTRON,TSS-UPSTREAM SNP Somatic 3 0.175 SQHIGH 10 41 51 0 54 54 G G T G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 9242|100132891 8 72755949 72755949 34 ALL relapse snv LOC100288181 EXON E3_exon NM_017527 10-PAPRCS LY6K|LOC100288181 UTR3|UTR SNP dbsnp.134:rs151014407 Somatic -4 0.091 SQHIGH 6 28 34 0 49 49 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 54742|100288181 8 143784794 143784794 24 ALL relapse snv ZMIZ1 missense A297T NM_020338 10-PAPRCS ZMIZ1 MISSENSE SNP Somatic -8 0.066 SQHIGH 13 21 34 0 13 13 COSMIC:mut:73382 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 57178 10 81052045 81052045 22 ALL relapse snv CTBP2 silent T288T NM_022802 10-PAPRCS CTBP2 SYNONYMOUS,INTRON SNP dbsnp.120:rs12256869 Somatic 10 0.387 SQHIGH 15 30 45 0 30 30 G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 1488 10 126715465 126715465 38 ALL relapse snv ST5 splice_region D648_E10splice_region NM_005418 10-PAPRCS ST5 DONOR SNP Somatic 8 0.305 SQHIGH 13 35 48 1 69 70 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 6764 11 8736151 8736151 46 ALL relapse snv ARHGEF17 splice_region G1363_E10splice_region NM_014786 10-PAPRCS ARHGEF17 ACCEPTOR SNP Somatic -4 0.091 SQHIGH 9 44 53 0 49 49 C C A C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 9828 11 73070873 73070873 27 ALL relapse snv DNAJB13 missense P33L NM_153614 10-PAPRCS DNAJB13 MISSENSE SNP Somatic 1 0.145 SQHIGH 11 55 66 0 54 54 C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 374407 11 73669391 73669391 30 ALL relapse snv SORL1 missense F1519L NM_003105 10-PAPRCS SORL1 MISSENSE SNP Somatic PFAM:PF00057:Ldl_recept_a 12 0.494 SQHIGH 13 34 47 0 56 56 Cosmic_Gene C C G C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 6653 11 121474939 121474939 49 ALL relapse snv FGFR1OP2 missense R222Q NM_015633 10-PAPRCS FGFR1OP2 MISSENSE SNP Somatic PFAM:PF05769:DUF837 -9 0.061 SQHIGH 5 34 39 0 34 34 G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 26127 12 27117569 27117569 14 ALL relapse snv ZC3H10 silent K73K NM_032786 10-PAPRCS ZC3H10|LOC100653008 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -3 0.099 SQHIGH 9 54 63 0 60 60 A A G A A TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 84872|100653008 12 56514565 56514565 27 ALL relapse snv PPFIA2 nonsense R297* NM_003625 10-PAPRCS PPFIA2 NONSENSE,UTR SNP Somatic PFAM:PF03114:BAR -3 0.099 SQHIGH 5 10 15 0 22 22 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 8499 12 81777897 81777897 22 ALL relapse snv CUX2 silent A302A NM_015267 10-PAPRCS CUX2 SYNONYMOUS SNP Somatic 7 0.272 SQHIGH 15 17 32 0 27 27 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 23316 12 111744772 111744772 48 ALL relapse snv SLC26A11 splice_region Q304_E8splice_region NM_001166347 10-PAPRCS SLC26A11 INTRON SNP Somatic -6 0.078 SQHIGH 11 39 50 1 40 41 G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 284129 17 78210909 78210909 23 ALL relapse snv ZBTB14 missense G167R NM_001143823 10-PAPRCS ZFP161 MISSENSE,UTR SNP Somatic -8 0.066 SQHIGH 9 56 65 0 58 58 Cosmic_Gene C C G C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 7541 18 5291708 5291708 26 ALL relapse snv DCC missense T499S NM_005215 10-PAPRCS DCC MISSENSE SNP Somatic 15 0.713 SQHIGH 13 12 25 0 50 50 Cosmic_Gene A A T A A TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 1630 18 50705408 50705408 74 ALL relapse snv WIZ nonsense R713* NM_021241 10-PAPRCS WIZ NONSENSE SNP Somatic -3 0.099 SQHIGH 5 19 24 0 20 20 G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 58525 19 15535082 15535082 14 ALL relapse snv MYO9B silent H808H NM_004145 10-PAPRCS MYO9B SYNONYMOUS SNP Somatic 4 0.194 SQHIGH 11 28 39 2 38 40 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 4650 19 17295724 17295724 23 ALL relapse snv EPS8L1 splice_region E593_E18splice_region NM_133180 10-PAPRCS EPS8L1 ACCEPTOR SNP Somatic -2 0.109 SQHIGH 6 15 21 0 17 17 C C A C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 54869 19 55598073 55598073 17 ALL relapse snv REM1 splice_region L141_E3splice_region NM_014012 10-PAPRCS DEFB124|REM1 TSS-UPSTREAM|INTRON SNP Somatic 2 0.160 SQHIGH 32 48 80 0 74 74 Cosmic_Gene C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 245937|28954 20 30065720 30065720 107 ALL relapse snv MMP11 silent S434S NM_005940 10-PAPRCS MMP11|SMARCB1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 0 0.133 SQHIGH 11 59 70 0 62 62 Cosmic_Gene T T C T T TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 4320|6598 22 24124639 24124639 32 ALL relapse snv TOM1 missense R84H NM_005488 10-PAPRCS TOM1 MISSENSE,UTR SNP dbsnp.120:rs11558473 Somatic PFAM:PF07651:ANTH -9 0.061 SQHIGH 7 49 56 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 10043 22 35719055 35719055 24 ALL relapse snv MOV10L1 silent A16A NM_018995 10-PAPRCS MOV10L1|MLC1 SYNONYMOUS,TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 11 0.436 SQHIGH 10 23 33 0 44 44 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 54456|23209 22 50528565 50528565 41 ALL relapse snv SHANK3 missense R1139Q NM_033517 10-PAPRCS SHANK3 MISSENSE SNP Somatic 12 0.494 SQHIGH 9 19 28 1 23 24 Cosmic_Gene G G A G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 85358 22 51159719 51159719 19 ALL relapse snv ASMTL missense G94R NM_004192 10-PAPRCS ASMTL MISSENSE SNP Somatic PFAM:PF02545:Maf 3 0.175 SQHIGH 16 70 86 1 53 54 C C T C C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 8623 X 1554645 1554645 27 ALL relapse snv SHROOM2 silent A254A NM_001649 10-PAPRCS SHROOM2 SYNONYMOUS SNP Somatic 13 0.558 SQHIGH 9 0 9 0 15 15 Cosmic_Gene C G C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 357 X 9862710 9862710 61 ALL relapse snv ATP11C missense Q82E NM_173694 10-PAPRCS ATP11C MISSENSE SNP Somatic -2 0.109 SQHIGH 10 7 17 0 21 21 Cosmic_Gene G C G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 286410 X 138901499 138901499 44 ALL relapse complex DCTN4 frameshift R402_K403fs NM_001135643 10-PAPRCS DCTN4 FRAMESHIFT Sub Somatic PFAM:PF05502:Dynactin_p62 -9 0.306 SQHIGH 14 32 46 0 50 50 Cosmic_Gene CCTTTCT CCTTTCT CGGGCC CCTTTCT CCTTTCT TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 51164 5 150090905 150090911 50 ALL diagnosis snv PTCHD2 missense L1360P NM_020780 10-PAPRCS PTCHD2 MISSENSE SNP Somatic 4 0.202 SQHIGH 21 32 53 0 43 43 Cosmic_Gene T T C T T TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 57540 1 11596643 11596643 64 ALL diagnosis snv AKR7A3 silent T206T NM_012067 10-PAPRCS AKR7A3 SYNONYMOUS SNP dbsnp.134:rs145436915 Somatic 0 0.127 SQHIGH 17 27 44 2 49 51 G G A G G TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 22977 1 19611266 19611266 47 ALL diagnosis snv NRAS missense G13D NM_002524 10-PAPRCS NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic -30 0.006 4 37 41 0 38 38 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 4893 1 115258744 115258744 12 ALL diagnosis snv NCKAP5 missense S1806R NM_207363 10-PAPRCS NCKAP5 MISSENSE SNP Somatic 15 0.771 SQHIGH 32 25 57 0 37 37 G G T G G TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 344148 2 133489335 133489335 91 ALL diagnosis snv SCN1A missense R187Q NM_001165963 10-PAPRCS SCN1A MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 20 1.000 SQHIGH 20 19 39 0 46 46 Cosmic_Gene C C T C C TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 6323 2 166911190 166911190 83 ALL diagnosis snv MROH2A silent P1250P NM_001287395 10-PAPRCS MROH2A SYNONYMOUS SNP Somatic 2 0.159 SQHIGH 17 82 99 3 57 60 Cosmic_Gene T T G T T TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 339766 2 234731077 234731077 17 ALL diagnosis snv CMTR1 missense P254L NM_015050 10-PAPRCS CMTR1 MISSENSE SNP Somatic PFAM:PF00398:RrnaAD -2 0.103 SQHIGH 13 73 86 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 23070 6 37421072 37421072 30 ALL diagnosis snv POLH silent Q665Q NM_006502 10-PAPRCS POLH SYNONYMOUS SNP Somatic -5 0.078 SQHIGH 5 23 28 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 5429 6 43582147 43582147 19 ALL diagnosis snv UBN2 splice_region P675_E12splice_region NM_173569 10-PAPRCS UBN2 DONOR SNP Somatic 9 0.394 SQHIGH 16 19 35 0 28 28 Cosmic_Gene G G A G G TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 254048 7 138960898 138960898 50 ALL diagnosis snv JAK2 missense R683S NM_004972 10-PAPRCS JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr -7 0.066 SQHIGH 3 15 18 0 20 20 COSMIC:mut:29302 Cosmic_Gene A A T A A TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 3717 9 5078362 5078362 10 ALL diagnosis snv ZMIZ1 missense A297T NM_020338 10-PAPRCS ZMIZ1 MISSENSE SNP Somatic -8 0.061 SQHIGH 15 25 40 0 13 13 COSMIC:mut:73382 Cosmic_Gene G G A G G TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 57178 10 81052045 81052045 22 ALL diagnosis snv CUX2 silent A302A NM_015267 10-PAPRCS CUX2 SYNONYMOUS SNP Somatic 7 0.312 SQHIGH 17 17 34 0 27 27 Cosmic_Gene G G A G G TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 23316 12 111744772 111744772 54 ALL diagnosis snv KRT28 missense Q272K NM_181535 10-PAPRCS KRT28 MISSENSE SNP Somatic PFAM:PF00038:Filament 7 0.312 SQHIGH 21 57 78 0 52 52 Cosmic_Gene G G T G G TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 162605 17 38953410 38953410 52 ALL diagnosis snv DCC missense T499S NM_005215 10-PAPRCS DCC MISSENSE SNP Somatic 11 0.498 SQHIGH 16 25 41 0 50 50 Cosmic_Gene A A T A A TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 1630 18 50705408 50705408 64 ALL diagnosis snv REM1 splice_region L141_E3splice_region NM_014012 10-PAPRCS DEFB124|REM1 TSS-UPSTREAM|INTRON SNP Somatic 1 0.141 SQHIGH 50 62 112 0 74 74 Cosmic_Gene C C T C C TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 245937|28954 20 30065720 30065720 135 ALL diagnosis snv ARHGEF10L missense R267C NM_018125 10-PAPRFE ARHGEF10L MISSENSE SNP Somatic 6 0.209 SQHIGH 18 38 56 0 51 51 Cosmic_Gene C C T C C TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 55160 1 17942661 17942661 57 ALL diagnosis snv KRTCAP2 missense A152G NM_173852 10-PAPRFE KRTCAP2|TRIM46 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF09775:Keratin_assoc 5 0.181 SQHIGH 4 24 28 0 42 42 Cosmic_Gene G G C G G TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 200185|80128 1 155141950 155141950 17 ALL diagnosis snv CNTNAP5 silent N332N NM_130773 10-PAPRFE CNTNAP5 SYNONYMOUS SNP Somatic 7 0.234 SQHIGH 14 23 37 0 49 49 Cosmic_Gene C C T C C TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 129684 2 125232393 125232393 59 ALL diagnosis snv GIGYF2 splice_region Q654_E18splice_region NM_001103147 10-PAPRFE GIGYF2 DONOR SNP Somatic -4 0.078 SQHIGH 4 14 18 0 25 25 Cosmic_Gene A A G A A TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 26058 2 233674525 233674525 16 ALL diagnosis snv VCAN missense R650C NM_004385 10-PAPRFE VCAN INTRON,MISSENSE SNP Somatic 14 0.566 SQHIGH 26 27 53 2 63 65 Cosmic_Gene C C T C C TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 1462 5 82816073 82816073 87 ALL diagnosis snv ATP6V1H missense S332N NM_015941 10-PAPRFE ATP6V1H MISSENSE SNP Somatic PFAM:PF03224:V-ATPase_H_N 3 0.150 SQHIGH 7 28 35 1 44 45 C C T C C TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 51606 8 54684603 54684603 19 ALL diagnosis snv KLHL9 missense V306I NM_018847 10-PAPRFE KLHL9 MISSENSE SNP Somatic PFAM:PF01344:Kelch_1 -7 0.062 SQHIGH 11 17 28 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 55958 9 21333943 21333943 37 ALL diagnosis snv LOC100133077 EXON E3_exon NM_000718 10-PAPRFE CACNA1B|LOC100133077 INTRON|UTR SNP Somatic -5 0.072 SQHIGH 19 24 43 1 36 37 Cosmic_Gene G G A G G TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 774|100133077 9 140786553 140786553 51 ALL diagnosis snv MOK missense Q406L NM_014226 10-PAPRFE MOK MISSENSE SNP Somatic -6 0.067 SQHIGH 4 18 22 0 32 32 T T A T T TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 5891 14 102695669 102695669 16 ALL diagnosis snv HS3ST2 missense S163N NM_006043 10-PAPRFE HS3ST2 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 6 0.209 SQHIGH 18 33 51 0 56 56 Cosmic_Gene G G A G G TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 9956 16 22926267 22926267 66 ALL diagnosis snv PARD6G-AS1 EXON E2_exon NM_032510 10-PAPRFE PARD6G|LOC100130522 INTRON|INTRON,UTR SNP Somatic 9 0.295 SQHIGH 25 28 53 0 53 53 T T C T T TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 84552|100130522 18 77928661 77928661 91 ALL diagnosis snv MYO1F splice_region Q394_E11splice_region NM_012335 10-PAPRFE MYO1F DONOR SNP Somatic 6 0.209 SQHIGH 27 33 60 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 4542 19 8613117 8613117 87 ALL diagnosis snv ATP4A silent G379G NM_000704 10-PAPRFE ATP4A SYNONYMOUS SNP Somatic 0 0.113 SQHIGH 7 40 47 2 70 72 Cosmic_Gene G G T G G TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 495 19 36050013 36050013 17 ALL diagnosis snv FUT1 missense A343T NM_000148 10-PAPRFE IZUMO1|FUT1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01531:Glyco_transf_11 -9 0.053 SQHIGH 3 26 29 0 48 48 Cosmic_Gene C C T C C TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 284359|2523 19 49253512 49253512 13 ALL diagnosis snv PRKCG silent R413R NM_002739 10-PAPRFE PRKCG SYNONYMOUS SNP Somatic -10 0.049 SQHIGH 6 17 23 0 21 21 Cosmic_Gene G G C G G TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 5582 19 54401840 54401840 18 ALL diagnosis snv DCX silent K404K NM_000555 10-PAPRFE DCX SYNONYMOUS SNP Somatic 4 0.164 SQHIGH 5 10 15 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 1641 X 110555927 110555927 25 ALL diagnosis mnv STAG3 missense D511_W512>GG NM_012447 10-PAPRFE STAG3 MISSENSE Sub Somatic -10 0.247 SQHIGH 4 14 18 0 30 30 Cosmic_Gene ACT ACT GGG ACT ACT TARGET-10-PAPRFE-09A-01D TARGET-10-PAPRFE-10A-01D 10734 7 99796949 99796951 18 ALL relapse snv NRAS missense G13R NM_002524 10-PAPSPG NRAS MISSENSE SNP dbsnp.132:rs121434595 Somatic 2 0.098 SQHIGH 10 35 45 0 52 52 COSMIC:mut:569 Cosmic_Gene C C G C C TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 4893 1 115258745 115258745 36 ALL relapse snv DSTYK nonsense R471* NM_015375 10-PAPSPG DSTYK NONSENSE SNP Somatic 1 0.089 SQHIGH 11 50 61 0 63 63 Cosmic_Gene G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 25778 1 205132997 205132997 36 ALL relapse snv VIT nonsense R369* NM_053276 10-PAPSPG VIT NONSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 12 0.338 SQHIGH 13 27 40 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 5212 2 37028490 37028490 46 ALL relapse snv TTC30A nonsense R202* NM_152275 10-PAPSPG TTC30A NONSENSE SNP Somatic -8 0.041 SQHIGH 9 24 33 0 36 36 G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 92104 2 178482826 178482826 32 ALL relapse snv RBM6 missense R375H NM_005777 10-PAPSPG RBM6 INTRON,MISSENSE SNP Somatic -7 0.045 SQHIGH 6 42 48 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 10180 3 50005982 50005982 20 ALL relapse snv HEMK1 splice R205_E7splice NM_016173 10-PAPSPG HEMK1 SYNONYMOUS SNP Somatic 4 0.118 SQHIGH 15 55 70 0 64 64 Cosmic_Gene G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 51409 3 50615257 50615257 46 ALL relapse snv PTPRG-AS1 EXON E16_exon NM_002841 10-PAPSPG LOC100506994|PTPRG UTR|INTRON SNP Somatic 18 0.883 SQHIGH 14 22 36 0 26 26 Cosmic_Gene G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 100506994|5793 3 62247996 62247996 39 ALL relapse snv PARP15 silent H166H NM_001113523 10-PAPSPG PARP15 SYNONYMOUS,TSS-UPSTREAM SNP Somatic 0 0.081 SQHIGH 7 32 39 0 50 50 Cosmic_Gene T T C T T TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 165631 3 122329532 122329532 27 ALL relapse snv BAI3 silent S211S NM_001704 10-PAPSPG LOC728052|BAI3 TSS-UPSTREAM|SYNONYMOUS SNP dbsnp.134:rs144107434 Somatic 3 0.108 SQHIGH 7 12 19 1 48 49 Cosmic_Gene G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 728052|577 6 69349200 69349200 35 ALL relapse snv KIAA1244 silent G1934G NM_020340 10-PAPSPG KIAA1244 SYNONYMOUS SNP Somatic 13 0.395 SQHIGH 17 28 45 0 67 67 Cosmic_Gene C C T C C TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 57221 6 138655785 138655785 77 ALL relapse snv ADGB silent S20S NM_024694 10-PAPSPG ADGB SYNONYMOUS SNP Somatic -1 0.074 SQHIGH 12 70 82 0 75 75 Cosmic_Gene G G T G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 79747 6 146920236 146920236 36 ALL relapse snv GLI3 missense V695I NM_000168 10-PAPSPG GLI3 MISSENSE SNP Somatic 1 0.089 SQHIGH 11 58 69 0 53 53 Cosmic_Gene C C T C C TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 2737 7 42011956 42011956 29 ALL relapse snv MUC17 nonsense R2742* NM_001040105 10-PAPSPG MUC17 NONSENSE SNP dbsnp.134:rs148241944 Somatic -2 0.067 SQHIGH 7 19 26 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 140453 7 100682921 100682921 25 ALL relapse snv FPGS missense D195Y NM_004957 10-PAPSPG FPGS MISSENSE SNP Somatic 4 0.118 SQHIGH 12 51 63 0 51 51 G G T G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 2356 9 130569703 130569703 33 ALL relapse snv UCN3 silent A155A NM_053049 10-PAPSPG UCN3 SYNONYMOUS SNP Somatic 1 0.089 SQHIGH 6 12 18 0 21 21 G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 114131 10 5416148 5416148 22 ALL relapse snv KCNMA1-AS2 EXON E5_exon NM_001014797 10-PAPSPG KCNMA1 INTRON SNP Somatic 7 0.173 SQHIGH 17 47 64 0 60 60 Cosmic_Gene C C T C C TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 3778 10 78909601 78909601 54 ALL relapse snv NT5C2 missense R238W NM_012229 10-PAPSPG NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 2 0.098 SQHIGH 7 30 37 0 35 35 G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 22978 10 104857107 104857107 22 ALL relapse snv PRKD1 nonsense R243* NM_002742 10-PAPSPG PRKD1 NONSENSE SNP Somatic 2 0.098 SQHIGH 11 34 45 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 5587 14 30108080 30108080 27 ALL relapse snv HOXB2 silent V187V NM_002145 10-PAPSPG HOXB2 SYNONYMOUS SNP Somatic 6 0.153 SQHIGH 20 47 67 0 55 55 G G A G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 3212 17 46620940 46620940 59 ALL relapse snv MUC16 silent S831S NM_024690 10-PAPSPG MUC16 SYNONYMOUS SNP Somatic 1 0.089 SQHIGH 17 40 57 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 94025 19 9089322 9089322 47 ALL relapse snv USHBP1 missense Q672E NM_031941 10-PAPSPG NR2F6|USHBP1 TSS-UPSTREAM|MISSENSE SNP Somatic 0 0.081 SQHIGH 5 17 22 0 22 22 Cosmic_Gene G G C G G TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 2063|83878 19 17361132 17361132 16 ALL relapse snv ADARB1 missense A186G NM_001112 10-PAPSPG ADARB1 INTRON,MISSENSE,UTR SNP Somatic -33 0.002 6 51 57 0 54 54 Cosmic_Gene C C G C C TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 104 21 46596173 46596173 18 ALL relapse snv SLC5A1 missense T519M NM_000343 10-PAPSPG SLC5A1 MISSENSE,UTR SNP dbsnp.127:rs33975915 Somatic -32 0.003 4 47 51 1 51 52 Cosmic_Gene C C T C C TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 6523 22 32498115 32498115 8 ALL relapse snv CRLF2 missense F232C NM_022148 10-PAPSPG CRLF2 MISSENSE SNP Somatic 13 0.395 SQHIGH 16 33 49 0 38 38 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 64109 X 1314966 1314966 45 ALL diagnosis snv PABPC4 missense S7G NM_001135653 10-PAPSPG PABPC4 MISSENSE SNP Somatic -9 0.038 SQHIGH 5 20 25 0 22 22 T T C T T TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 8761 1 40041605 40041605 15 ALL diagnosis snv VIT nonsense R369* NM_053276 10-PAPSPG VIT NONSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 6 0.153 SQHIGH 17 33 50 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 5212 2 37028490 37028490 52 ALL diagnosis snv TTC30A nonsense R202* NM_152275 10-PAPSPG TTC30A NONSENSE SNP Somatic -8 0.041 SQHIGH 16 27 43 0 36 36 G G A G G TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 92104 2 178482826 178482826 49 ALL diagnosis snv PARP15 silent H166H NM_001113523 10-PAPSPG PARP15 SYNONYMOUS,TSS-UPSTREAM SNP Somatic 12 0.337 SQHIGH 20 24 44 0 50 50 Cosmic_Gene T T C T T TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 165631 3 122329532 122329532 79 ALL diagnosis snv PCDHB4 nonsense R410* NM_018938 10-PAPSPG PCDHB4 NONSENSE SNP Somatic 6 0.153 SQHIGH 22 41 63 0 57 57 Cosmic_Gene C C T C C TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 56131 5 140502808 140502808 71 ALL diagnosis snv BAI3 silent S211S NM_001704 10-PAPSPG LOC728052|BAI3 TSS-UPSTREAM|SYNONYMOUS SNP dbsnp.134:rs144107434 Somatic 4 0.118 SQHIGH 16 18 34 1 48 49 Cosmic_Gene G G A G G TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 728052|577 6 69349200 69349200 63 ALL diagnosis snv GABRR1 missense R270C NM_002042 10-PAPSPG GABRR1 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 16 0.688 SQHIGH 22 25 47 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 2569 6 89891765 89891765 69 ALL diagnosis snv KIAA1244 silent G1934G NM_020340 10-PAPSPG KIAA1244 SYNONYMOUS SNP Somatic 15 0.608 SQHIGH 27 28 55 0 67 67 Cosmic_Gene C C T C C TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 57221 6 138655785 138655785 114 ALL diagnosis snv MUC17 nonsense R2742* NM_001040105 10-PAPSPG MUC17 NONSENSE SNP dbsnp.134:rs148241944 Somatic 11 0.291 SQHIGH 13 13 26 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 140453 7 100682921 100682921 51 ALL diagnosis snv ST3GAL1 missense T327P NM_003033 10-PAPSPG ST3GAL1 MISSENSE SNP Somatic PFAM:PF00777:Glyco_transf_29 -10 0.036 SQHIGH 9 42 51 1 54 55 T T G T T TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 6482 8 134472051 134472051 22 ALL diagnosis snv KCNMA1-AS2 EXON E5_exon NM_001014797 10-PAPSPG KCNMA1 INTRON SNP Somatic 15 0.608 SQHIGH 34 38 72 0 60 60 Cosmic_Gene C C T C C TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 3778 10 78909601 78909601 110 ALL diagnosis snv THAP7 missense R16P NM_030573 10-PAPSPG THAP7|FLJ39582 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF05485:THAP -3 0.061 SQHIGH 5 15 20 0 22 22 C C G C C TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 80764|439931 22 21356154 21356154 17 ALL diagnosis snv P2RX6 missense A408G NM_005446 10-PAPSPG P2RX6 MISSENSE SNP Somatic -6 0.049 SQHIGH 4 21 25 0 31 31 C C G C C TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 9127 22 21380803 21380803 15 ALL diagnosis snv CRLF2 missense F232C NM_022148 10-PAPSPG CRLF2 MISSENSE SNP Somatic 12 0.337 SQHIGH 14 29 43 0 38 38 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 64109 X 1314966 1314966 44 ALL relapse snv PEX14 silent P283P NM_004565 10-PAPSPN PEX14 SYNONYMOUS SNP Somatic 13 0.436 SQHIGH 24 25 49 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 5195 1 10689759 10689759 69 ALL relapse snv HOOK1 missense G689S NM_015888 10-PAPSPN HOOK1 MISSENSE SNP Somatic PFAM:PF05622:HOOK 5 0.151 SQHIGH 6 15 21 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 51361 1 60338515 60338515 26 ALL relapse snv ERICH3-AS1 EXON E7_exon NM_001002912 10-PAPSPN ERICH3 INTRON SNP Somatic 8 0.222 SQHIGH 6 25 31 1 36 37 Cosmic_Gene A A T A A TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 127254 1 75088247 75088247 15 ALL relapse snv USH2A missense R1549Q NM_206933 10-PAPSPN USH2A MISSENSE SNP Somatic 5 0.151 SQHIGH 14 17 31 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 7399 1 216270537 216270537 46 ALL relapse snv CHRM3-AS1 EXON E4_exon NM_000740 10-PAPSPN CHRM3 INTRON SNP Somatic 16 0.706 SQHIGH 13 18 31 0 36 36 Cosmic_Gene T T G T T TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 1131 1 240061647 240061647 51 ALL relapse snv LCT missense T1725M NM_002299 10-PAPSPN LCT MISSENSE SNP Somatic PFAM:PF00232:Glyco_hydro_1 6 0.174 SQHIGH 20 16 36 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 3938 2 136548389 136548389 78 ALL relapse snv XIRP2 missense N3316I NM_152381 10-PAPSPN XIRP2 INTRON,MISSENSE SNP Somatic 9 0.251 SQHIGH 33 16 49 0 43 43 Cosmic_Gene A A T A A TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 129446 2 168107849 168107849 125 ALL relapse snv TTN missense A4069T NM_133379 10-PAPSPN TTN INTRON,MISSENSE SNP Somatic -14 0.027 23 23 46 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 7273 2 179614922 179614922 84 ALL relapse snv SPEG silent S1165S NM_005876 10-PAPSPN SPEG SYNONYMOUS SNP Somatic 17 0.847 SQHIGH 27 19 46 0 61 61 Cosmic_Gene G G C G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 10290 2 220333881 220333881 126 ALL relapse snv USP19 silent A589A NM_006677 10-PAPSPN USP19 SYNONYMOUS SNP Somatic -1 0.083 SQHIGH 8 46 54 1 55 56 Cosmic_Gene G G T G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 10869 3 49152497 49152497 19 ALL relapse snv PVRL3 missense R347S NM_015480 10-PAPSPN PVRL3 MISSENSE SNP Somatic PFAM:PF00047:ig 2 0.112 SQHIGH 10 12 22 0 24 24 Cosmic_Gene A A T A A TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 25945 3 110845154 110845154 38 ALL relapse snv GPR156 silent T182T NM_153002 10-PAPSPN GPR156 SYNONYMOUS SNP Somatic PFAM:PF00003:7tm_3 15 0.628 SQHIGH 12 22 34 0 40 40 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 165829 3 119905559 119905559 46 ALL relapse snv CPEB2 missense D668N NM_182646 10-PAPSPN CPEB2 MISSENSE SNP Somatic 14 0.516 SQHIGH 11 8 19 0 29 29 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 132864 4 15018869 15018869 55 ALL relapse snv NAA11 missense P197L NM_032693 10-PAPSPN NAA11 MISSENSE SNP Somatic 17 0.847 SQHIGH 32 29 61 1 44 45 COSMIC:mut:86586 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 84779 4 80246442 80246442 85 ALL relapse snv CENPE missense L983I NM_001813 10-PAPSPN CENPE MISSENSE SNP Somatic 10 0.286 SQHIGH 7 9 16 0 37 37 Cosmic_Gene G G T G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 1062 4 104079543 104079543 41 ALL relapse snv KIAA0922 splice_region R1231_E27splice_region NM_001131007 10-PAPSPN KIAA0922 DONOR SNP Somatic 18 0.887 SQHIGH 13 17 30 0 42 42 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 23240 4 154542036 154542036 58 ALL relapse snv MFAP3L silent T133T NM_021647 10-PAPSPN MFAP3L SYNONYMOUS SNP Somatic PFAM:PF00047:ig 4 0.136 SQHIGH 25 51 76 0 51 51 Cosmic_Gene G G C G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 9848 4 170913360 170913360 64 ALL relapse snv LIFR missense R88C NM_001127671 10-PAPSPN LIFR MISSENSE SNP Somatic 9 0.251 SQHIGH 23 23 46 0 50 50 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 3977 5 38527392 38527392 90 ALL relapse snv RICTOR missense D1140E NM_152756 10-PAPSPN RICTOR MISSENSE SNP Somatic 11 0.326 SQHIGH 24 20 44 0 48 48 Cosmic_Gene A A T A A TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 253260 5 38950530 38950530 97 ALL relapse snv DDX4 missense R579Q NM_024415 10-PAPSPN DDX4 MISSENSE SNP Somatic 16 0.706 SQHIGH 20 22 42 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 54514 5 55110749 55110749 83 ALL relapse snv RFPL4B silent S116S NM_001013734 10-PAPSPN RFPL4B SYNONYMOUS SNP dbsnp.134:rs147620371 Somatic 13 0.436 SQHIGH 26 35 61 0 52 52 C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 442247 6 112671258 112671258 83 ALL relapse snv NCOA7 silent P712P NM_181782 10-PAPSPN NCOA7 SYNONYMOUS,TSS-UPSTREAM SNP Somatic 10 0.286 SQHIGH 25 35 60 0 59 59 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 135112 6 126236518 126236518 88 ALL relapse snv DTX2 missense A17V NM_020892 10-PAPSPN DTX2 MISSENSE SNP Somatic 19 0.947 SQHIGH 18 19 37 1 44 45 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 113878 7 76109876 76109876 64 ALL relapse snv ADAM22 missense K412T NM_021723 10-PAPSPN ADAM22 MISSENSE SNP Somatic 4 0.136 SQHIGH 12 13 25 0 34 34 Cosmic_Gene A A C A A TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 53616 7 87772355 87772355 53 ALL relapse snv CYP3A7 missense R54C NM_000765 10-PAPSPN CYP3A7 MISSENSE SNP Somatic PFAM:PF00067:p450 5 0.151 SQHIGH 28 43 71 0 62 62 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 1551 7 99328687 99328687 90 ALL relapse snv SRRT missense P828L NM_015908 10-PAPSPN SRRT MISSENSE SNP Somatic PFAM:PF04959:ARS2 5 0.151 SQHIGH 27 33 60 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 51593 7 100485932 100485932 77 ALL relapse snv MET missense R811H NM_001127500 10-PAPSPN MET MISSENSE SNP Somatic 15 0.628 SQHIGH 25 16 41 0 48 48 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 4233 7 116403117 116403117 109 ALL relapse snv NOBOX silent P160P NM_001080413 10-PAPSPN NOBOX SYNONYMOUS SNP Somatic 1 0.101 SQHIGH 23 14 37 0 36 36 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 135935 7 144098503 144098503 90 ALL relapse snv KIF13B missense E565K NM_015254 10-PAPSPN KIF13B MISSENSE SNP Somatic 13 0.436 SQHIGH 18 27 45 0 58 58 C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 23303 8 29006214 29006214 75 ALL relapse snv ASPH missense T56M NM_004318 10-PAPSPN ASPH MISSENSE SNP dbsnp.134:rs149440176 Somatic PFAM:PF05279:Asp-B-Hydro_N 20 0.999 SQHIGH 20 15 35 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 444 8 62596684 62596684 81 ALL relapse snv RUNX1T1 silent A23A NM_001198634 10-PAPSPN RUNX1T1 SYNONYMOUS,INTRON,TSS-UPSTREAM,UTR5 SNP Somatic -5 0.058 SQHIGH 9 16 25 0 20 20 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 862 8 93107627 93107627 26 ALL relapse snv JAK2 missense R683G NM_004972 10-PAPSPN JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr -3 0.069 SQHIGH 12 12 24 2 32 34 COSMIC:mut:29300 Cosmic_Gene A A G A A TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 3717 9 5078360 5078360 38 ALL relapse snv ELAVL2 missense A246T NM_004432 10-PAPSPN ELAVL2 INTRON,MISSENSE SNP Somatic 17 0.847 SQHIGH 30 31 61 0 65 65 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 1993 9 23693462 23693462 116 ALL relapse snv PRKACG missense R132G NM_002732 10-PAPSPN PRKACG MISSENSE SNP Somatic 17 0.847 SQHIGH 24 14 38 0 31 31 Cosmic_Gene G G C G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 5568 9 71628615 71628615 84 ALL relapse snv JMJD1C silent A1128A NM_032776 10-PAPSPN JMJD1C SYNONYMOUS SNP Somatic 11 0.326 SQHIGH 8 18 26 0 31 31 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 221037 10 64968045 64968045 30 ALL relapse snv NT5C2 missense S408R NM_012229 10-PAPSPN NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 6 0.174 SQHIGH 34 17 51 0 26 26 G G T G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 22978 10 104850741 104850741 87 ALL relapse snv MUC5B missense A3034V NM_002458 10-PAPSPN MUC5B MISSENSE SNP Somatic -10 0.039 SQHIGH 8 46 54 2 63 65 C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 727897 11 1267211 1267211 16 ALL relapse snv ATG2A missense R478C NM_015104 10-PAPSPN MIR6750 MISSENSE SNP Somatic 11 0.326 SQHIGH 33 37 70 1 54 55 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 23130 11 64678544 64678544 89 ALL relapse snv SPTBN2 missense R1167C NM_006946 10-PAPSPN SPTBN2 MISSENSE SNP Somatic 17 0.847 SQHIGH 24 20 44 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 6712 11 66468071 66468071 93 ALL relapse snv TRIM29 missense E84K NM_012101 10-PAPSPN TRIM29 MISSENSE SNP Somatic 14 0.516 SQHIGH 21 23 44 1 47 48 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 23650 11 120008490 120008490 70 ALL relapse snv KIRREL3-AS2 EXON E1_exon NM_032531 10-PAPSPN KIRREL3 INTRON SNP Somatic 6 0.174 SQHIGH 20 26 46 0 42 42 Cosmic_Gene T T C T T TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 84623 11 126814950 126814950 67 ALL relapse snv KRAS missense A146T NM_033360 10-PAPSPN KRAS MISSENSE SNP dbsnp.133:rs121913527 Somatic 0 0.092 SQHIGH 12 13 25 0 35 35 COSMIC:mut:19404 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 3845 12 25378562 25378562 54 ALL relapse snv KMT2D nonsense W1491* NM_003482 10-PAPSPN KMT2D NONSENSE SNP Somatic 6 0.174 SQHIGH 17 48 65 0 47 47 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 8085 12 49440154 49440154 45 ALL relapse snv ATF1 missense G83R NM_005171 10-PAPSPN ATF1 MISSENSE SNP dbsnp.134:rs146613889 Somatic PFAM:PF02173:pKID 16 0.706 SQHIGH 20 22 42 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 466 12 51203291 51203291 68 ALL relapse snv NCOR2 missense E1328K NM_006312 10-PAPSPN NCOR2 MISSENSE SNP Somatic 14 0.516 SQHIGH 25 28 53 0 52 52 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 9612 12 124832723 124832723 90 ALL relapse snv ATP11A missense I360T NM_015205 10-PAPSPN ATP11A MISSENSE SNP Somatic 7 0.197 SQHIGH 17 61 78 0 82 82 Cosmic_Gene T T C T T TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 23250 13 113481063 113481063 57 ALL relapse snv SLC7A8 silent R346R NM_012244 10-PAPSPN SLC7A8 SYNONYMOUS SNP Somatic PFAM:PF01490:Aa_trans 13 0.436 SQHIGH 24 23 47 0 32 32 Cosmic_Gene G G T G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 23428 14 23600747 23600747 68 ALL relapse snv PRKD1 missense E323K NM_002742 10-PAPSPN PRKD1 MISSENSE SNP Somatic 9 0.251 SQHIGH 14 18 32 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 5587 14 30107713 30107713 63 ALL relapse snv TMC7 nonsense Y194* NM_024847 10-PAPSPN TMC7 NONSENSE SNP Somatic -5 0.058 SQHIGH 10 19 29 0 40 40 Cosmic_Gene C C G C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 79905 16 19033072 19033072 42 ALL relapse snv XPO6 silent I368I NM_015171 10-PAPSPN XPO6 SYNONYMOUS SNP Somatic 9 0.251 SQHIGH 27 22 49 1 46 47 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 23214 16 28164100 28164100 87 ALL relapse snv CHST6 missense R220H NM_021615 10-PAPSPN CHST6 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 4 0.136 SQHIGH 11 11 22 0 25 25 C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 4166 16 75513068 75513068 44 ALL relapse snv TNK1 missense R207S NM_003985 10-PAPSPN TNK1 MISSENSE SNP Somatic PFAM:PF03109:ABC1 4 0.136 SQHIGH 10 16 26 0 21 21 Cosmic_Gene C C A C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 8711 17 7287325 7287325 30 ALL relapse snv MYOCD missense E879K NM_001146312 10-PAPSPN MYOCD MISSENSE SNP Somatic 13 0.436 SQHIGH 19 28 47 0 56 56 Cosmic_Gene G G A G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 93649 17 12666635 12666635 75 ALL relapse snv METTL4 missense R443Q NM_022840 10-PAPSPN METTL4 MISSENSE SNP Somatic PFAM:PF05063:MT-A70 14 0.516 SQHIGH 15 12 27 0 31 31 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 64863 18 2539090 2539090 62 ALL relapse snv ZNF519 missense R528H NM_145287 10-PAPSPN ZNF519 INTRON,MISSENSE SNP Somatic 15 0.628 SQHIGH 24 16 40 0 49 49 C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 162655 18 14104956 14104956 107 ALL relapse snv DYRK1B missense V381M NM_004714 10-PAPSPN DYRK1B INTRON,MISSENSE SNP Somatic PFAM:PF03109:ABC1 -6 0.054 SQHIGH 4 9 13 0 22 22 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 9149 19 40317582 40317582 19 ALL relapse snv FBL missense G55R NM_001436 10-PAPSPN FBL MISSENSE SNP Somatic -2 0.075 SQHIGH 32 29 61 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 2091 19 40331275 40331275 105 ALL relapse snv DHX34 missense G1125W NM_014681 10-PAPSPN DHX34 MISSENSE SNP Somatic -2 0.075 SQHIGH 7 31 38 0 45 45 Cosmic_Gene G G T G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 9704 19 47885311 47885311 25 ALL relapse snv GAL3ST1 missense F170L NM_004861 10-PAPSPN GAL3ST1 MISSENSE SNP Somatic PFAM:PF03567:Sulfotransfer_2 16 0.706 SQHIGH 16 13 29 1 36 37 G G C G G TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 9514 22 30951702 30951702 60 ALL relapse snv ATP7A nonsense R795* NM_000052 10-PAPSPN ATP7A NONSENSE SNP dbsnp.130:rs72554645 Somatic PFAM:PF00122:E1-E2_ATPase 14 0.516 SQHIGH 16 0 16 0 14 14 C T C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 538 X 77268586 77268586 82 ALL relapse snv BRWD3 missense R1240P NM_153252 10-PAPSPN BRWD3 MISSENSE SNP Somatic 6 0.174 SQHIGH 6 0 6 0 11 11 Cosmic_Gene C G C TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 254065 X 79945475 79945475 41 ALL relapse complex PAX5 frameshift R50fs NM_016734 10-PAPSPN PAX5 FRAMESHIFT Sub Somatic -2 0.448 SQHIGH 36 41 77 0 69 69 Cosmic_Gene CC CC CAAGACATCACCT CC CC TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 5079 9 37020695 37020696 122 ALL diagnosis snv ACAP3 missense H673P NM_030649 10-PAPSPN ACAP3 MISSENSE SNP Somatic -8 0.045 SQHIGH 6 17 23 1 31 32 T T G T T TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 116983 1 1229903 1229903 18 ALL diagnosis snv SAMD13 silent Y99Y NM_001010971 10-PAPSPN SAMD13 SYNONYMOUS SNP Somatic 13 0.438 SQHIGH 17 23 40 0 46 46 C C T C C TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 148418 1 84815403 84815403 67 ALL diagnosis snv UGT2A3 missense V76E NM_024743 10-PAPSPN UGT2A3 MISSENSE,UTR SNP Somatic PFAM:PF00201:UDPGT 6 0.175 SQHIGH 19 33 52 0 50 50 Cosmic_Gene A A T A A TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 79799 4 69817252 69817252 64 ALL diagnosis snv CENPE missense L983I NM_001813 10-PAPSPN CENPE MISSENSE SNP Somatic 9 0.253 SQHIGH 8 10 18 0 37 37 Cosmic_Gene G G T G G TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 1062 4 104079543 104079543 44 ALL diagnosis snv RFPL4B silent S116S NM_001013734 10-PAPSPN RFPL4B SYNONYMOUS SNP dbsnp.134:rs147620371 Somatic 16 0.708 SQHIGH 31 36 67 0 52 52 C C T C C TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 442247 6 112671258 112671258 95 ALL diagnosis snv ERMARD splice R465_E14splice NM_018341 10-PAPSPN C6orf70 DISRUPT SNP Somatic 13 0.438 SQHIGH 21 15 36 0 29 29 Cosmic_Gene G G A G G TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 55780 6 170175443 170175443 70 ALL diagnosis snv SRRT missense P828L NM_015908 10-PAPSPN SRRT MISSENSE SNP Somatic PFAM:PF04959:ARS2 5 0.151 SQHIGH 24 34 58 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 51593 7 100485932 100485932 69 ALL diagnosis snv NOBOX silent P160P NM_001080413 10-PAPSPN NOBOX SYNONYMOUS SNP Somatic 0 0.092 SQHIGH 22 20 42 0 36 36 Cosmic_Gene C C T C C TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 135935 7 144098503 144098503 74 ALL diagnosis snv JAK2 missense R683S NM_004972 10-PAPSPN JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 10 0.288 SQHIGH 14 17 31 0 34 34 COSMIC:mut:29638 Cosmic_Gene A A C A A TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 3717 9 5078362 5078362 54 ALL diagnosis snv ELAVL2 missense A246T NM_004432 10-PAPSPN ELAVL2 INTRON,MISSENSE SNP Somatic 11 0.328 SQHIGH 31 40 71 0 65 65 Cosmic_Gene C C T C C TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 1993 9 23693462 23693462 105 ALL diagnosis snv SPTBN2 missense R1167C NM_006946 10-PAPSPN SPTBN2 MISSENSE SNP Somatic 20 1.000 SQHIGH 18 13 31 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 6712 11 66468071 66468071 88 ALL diagnosis snv KRAS missense G12D NM_033360 10-PAPSPN KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 14 0.519 SQHIGH 19 17 36 0 30 30 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 3845 12 25398284 25398284 63 ALL diagnosis snv PRKD1 missense E323K NM_002742 10-PAPSPN PRKD1 MISSENSE SNP Somatic 8 0.223 SQHIGH 27 26 53 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 5587 14 30107713 30107713 90 ALL diagnosis snv ANP32A-IT1 EXON E1_exon NM_006305 10-PAPSPN MIR4312|ANP32A|ANP32A-IT1 TSS-UPSTREAM|INTRON|UTR SNP Somatic -5 0.058 SQHIGH 5 37 42 0 40 40 G G A G G TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 100422971|8125|80035 15 69097074 69097074 15 ALL diagnosis snv CHST6 missense R220H NM_021615 10-PAPSPN CHST6 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 4 0.137 SQHIGH 24 18 42 0 25 25 C C T C C TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 4166 16 75513068 75513068 64 ALL diagnosis snv FBL missense G55R NM_001436 10-PAPSPN FBL MISSENSE SNP Somatic -2 0.075 SQHIGH 27 27 54 0 50 50 Cosmic_Gene C C T C C TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 2091 19 40331275 40331275 95 ALL diagnosis snv MYH7B missense G459C NM_020884 10-PAPSPN MYH7B|MIR499 MISSENSE|TSS-UPSTREAM SNP Somatic 15 0.628 SQHIGH 30 26 56 1 56 57 Cosmic_Gene G G T G G TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 57644|574501 20 33575461 33575461 102 ALL diagnosis snv EP300 silent Q363Q NM_001429 10-PAPSPN EP300 SYNONYMOUS SNP Somatic PFAM:PF02135:zf-TAZ -6 0.054 SQHIGH 5 44 49 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 2033 22 41523673 41523673 15 ALL diagnosis snv ACTL8 missense A341V NM_030812 10-PAPTHJ ACTL8 MISSENSE SNP Somatic 10 0.350 SQHIGH 15 30 45 0 62 62 Cosmic_Gene C C T C C TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 81569 1 18152935 18152935 63 ALL diagnosis snv NRAS missense G13D NM_002524 10-PAPTHJ NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 5 0.186 SQHIGH 16 44 60 1 51 52 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 4893 1 115258744 115258744 38 ALL diagnosis snv FAM136A missense D88H NM_032822 10-PAPTHJ FAM136A|SNRPG MISSENSE|TSS-UPSTREAM SNP dbsnp.131:rs75086964,dbsnp.132:rs115611836 Somatic PFAM:PF05811:DUF842 -7 0.056 SQHIGH 5 31 36 0 41 41 C C G C C TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 84908|6637 2 70524576 70524576 17 ALL diagnosis snv LRP1B silent V3263V NM_018557 10-PAPTHJ LRP1B SYNONYMOUS SNP Somatic -1 0.097 SQHIGH 5 26 31 0 41 41 Cosmic_Gene C C A C C TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 53353 2 141215057 141215057 19 ALL diagnosis snv LOC101929570 EXON E2_exon NM_033272 10-PAPTHJ KCNH7 INTRON SNP Somatic 18 0.898 SQHIGH 14 24 38 0 45 45 Cosmic_Gene G G A G G TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 90134 2 163652881 163652881 54 ALL diagnosis snv CAMKV missense R120Q NM_024046 10-PAPTHJ CAMKV|TRAIP MISSENSE|TSS-UPSTREAM SNP Somatic -2 0.087 SQHIGH 7 36 43 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 79012|10293 3 49898954 49898954 17 ALL diagnosis snv COL13A1 missense R609C NM_001130103 10-PAPTHJ COL13A1 MISSENSE SNP Somatic 2 0.133 SQHIGH 21 59 80 0 80 80 Cosmic_Gene C C T C C TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 1305 10 71697451 71697451 70 ALL diagnosis snv FOSL1 silent A27A NM_005438 10-PAPTHJ FOSL1 SYNONYMOUS SNP Somatic -6 0.060 SQHIGH 3 10 13 0 22 22 T T G T T TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 8061 11 65667730 65667730 14 ALL diagnosis snv FBLN5 missense G267S NM_006329 10-PAPTHJ FBLN5 MISSENSE SNP dbsnp.134:rs149396611 Somatic PFAM:PF04811:Sec23_trunk 2 0.133 SQHIGH 14 38 52 0 53 53 Cosmic_Gene C C T C C TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 10516 14 92349361 92349361 47 ALL diagnosis snv SLC16A6 missense A81T NM_004694 10-PAPTHJ ARSG|SLC16A6 INTRON|MISSENSE SNP Somatic 6 0.224 SQHIGH 24 47 71 0 46 46 Cosmic_Gene C C T C C TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 22901|9120 17 66270203 66270203 60 ALL diagnosis snv SERPINB13 missense G33D NM_012397 10-PAPTHJ SERPINB13 MISSENSE SNP Somatic PFAM:PF00079:Serpin 2 0.133 SQHIGH 14 64 78 0 54 54 Cosmic_Gene G G A G G TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 5275 18 61255999 61255999 34 ALL diagnosis snv DSEL missense E1075G NM_032160 10-PAPTHJ DSEL MISSENSE SNP Somatic 3 0.148 SQHIGH 15 56 71 0 48 48 Cosmic_Gene T T C T T TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 92126 18 65178652 65178652 37 ALL diagnosis snv PCSK2 silent Y322Y NM_002594 10-PAPTHJ PCSK2 SYNONYMOUS SNP Somatic -4 0.071 SQHIGH 14 41 55 0 42 42 Cosmic_Gene C C T C C TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 5126 20 17434467 17434467 38 ALL diagnosis snv HDX silent Y231Y NM_144657 10-PAPTHJ HDX SYNONYMOUS SNP Somatic 6 0.224 SQHIGH 14 39 53 0 47 47 Cosmic_Gene A A G A A TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 139324 X 83724038 83724038 43 ALL diagnosis complex ECE2 frameshift S359fs NM_014693 10-PAPTHJ ECE2 FRAMESHIFT Sub Somatic -7 0.284 SQHIGH 22 32 54 0 62 62 Cosmic_Gene CT CT CCGGGCC CT CT TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 9718 3 183996073 183996074 86 ALL diagnosis snv TRAPPC12 missense R317C NM_016030 10-PAPTLM TRAPPC12 MISSENSE SNP Somatic 6 0.193 SQHIGH 8 14 22 0 18 18 Cosmic_Gene C C T C C TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 51112 2 3392343 3392343 24 ALL diagnosis snv UGT1A4 silent G15G NM_007120 10-PAPTLM UGT1A4|UGT1A9|UGT1A10|UGT1A6|UGT1A8|UGT1A7|UGT1A5 SYNONYMOUS|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic -1 0.093 SQHIGH 3 9 12 0 22 22 Cosmic_Gene A A C A A TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 54657|54600|54575|54578|54576|54577|54579 2 234627511 234627511 14 ALL diagnosis snv EPHA3 missense D144E NM_005233 10-PAPTLM EPHA3 MISSENSE SNP Somatic 13 0.470 SQHIGH 27 34 61 0 46 46 Cosmic_Gene C C A C C TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 2042 3 89259288 89259288 80 ALL diagnosis snv DSP missense K859E NM_004415 10-PAPTLM DSP MISSENSE SNP Somatic -1 0.093 SQHIGH 8 22 30 0 44 44 Cosmic_Gene A A G A A TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 1832 6 7575666 7575666 34 ALL diagnosis snv HIST1H1B missense G103D NM_005322 10-PAPTLM HIST1H1B MISSENSE SNP Somatic 8 0.245 SQHIGH 10 22 32 1 40 41 Cosmic_Gene C C T C C TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 3009 6 27835000 27835000 31 ALL diagnosis snv RBM39 nonsense R57* NM_184234 10-PAPTLM RBM39 UTR3,NONSENSE SNP Somatic 7 0.218 SQHIGH 20 37 57 0 43 43 Cosmic_Gene G G A G G TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 9584 20 34319990 34319990 56 ALL diagnosis snv NLGN4X silent L124L NM_020742 10-PAPTLM NLGN4X SYNONYMOUS SNP Somatic PFAM:PF00135:COesterase PFAM:PF06342:DUF1057 -2 0.084 SQHIGH 5 30 35 0 47 47 Cosmic_Gene C C A C C TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 57502 X 6069136 6069136 19 ALL diagnosis snv NLGN4X missense M123I NM_020742 10-PAPTLM NLGN4X MISSENSE SNP Somatic PFAM:PF00135:COesterase PFAM:PF06342:DUF1057 -6 0.060 SQHIGH 5 35 40 0 52 52 Cosmic_Gene C C G C C TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 57502 X 6069139 6069139 19 ALL diagnosis snv FGGY silent D203D NM_001113411 10-PAPVNW FGGY SYNONYMOUS SNP Somatic 7 0.232 SQHIGH 14 10 24 0 18 18 Cosmic_Gene C C T C C TARGET-10-PAPVNW-09A-01D TARGET-10-PAPVNW-10A-01D 55277 1 59922687 59922687 44 ALL diagnosis snv CLDN18 nonsense R80* NM_016369 10-PAPVNW CLDN18 NONSENSE SNP Somatic PFAM:PF00822:PMP22_Claudin 1 0.124 SQHIGH 6 33 39 0 33 33 Cosmic_Gene C C T C C TARGET-10-PAPVNW-09A-01D TARGET-10-PAPVNW-10A-01D 51208 3 137742517 137742517 17 ALL diagnosis snv ATP10B missense R1342I NM_025153 10-PAPVNW ATP10B MISSENSE SNP Somatic -7 0.062 SQHIGH 10 50 60 0 61 61 Cosmic_Gene C C A C C TARGET-10-PAPVNW-09A-01D TARGET-10-PAPVNW-10A-01D 23120 5 159992821 159992821 32 ALL diagnosis snv NOC3L missense P368L NM_022451 10-PAPVNW NOC3L MISSENSE SNP Somatic 9 0.292 SQHIGH 23 32 55 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAPVNW-09A-01D TARGET-10-PAPVNW-10A-01D 64318 10 96109895 96109895 63 ALL diagnosis snv KRAS missense G12D NM_033360 10-PAPVNW KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic -37 0.001 2 23 25 0 37 37 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PAPVNW-09A-01D TARGET-10-PAPVNW-10A-01D 3845 12 25398284 25398284 8 ALL diagnosis snv CLIP1 silent Y343Y NM_002956 10-PAPVNW CLIP1 SYNONYMOUS SNP Somatic 12 0.423 SQHIGH 26 30 56 0 53 53 Cosmic_Gene G G A G G TARGET-10-PAPVNW-09A-01D TARGET-10-PAPVNW-10A-01D 6249 12 122839836 122839836 91 ALL diagnosis snv SLC24A1 missense V54L NM_004727 10-PAPVNW SLC24A1 MISSENSE SNP Somatic -10 0.048 SQHIGH 5 25 30 0 21 21 G G C G G TARGET-10-PAPVNW-09A-01D TARGET-10-PAPVNW-10A-01D 9187 15 65916578 65916578 12 ALL diagnosis snv KRT25 missense R296Q NM_181534 10-PAPVNW KRT25 MISSENSE SNP Somatic PFAM:PF00038:Filament 3 0.149 SQHIGH 6 23 29 0 20 20 Cosmic_Gene C C T C C TARGET-10-PAPVNW-09A-01D TARGET-10-PAPVNW-10A-01D 147183 17 38907276 38907276 15 ALL relapse snv SESN2 silent A462A NM_031459 10-PAPVTA SESN2 SYNONYMOUS SNP Somatic PFAM:PF04636:PA26 5 0.218 SQHIGH 14 11 25 0 29 29 Cosmic_Gene G G T G G TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 83667 1 28607256 28607256 59 ALL relapse snv CSMD2 silent S743S NM_052896 10-PAPVTA CSMD2 SYNONYMOUS SNP Somatic 7 0.272 SQHIGH 12 19 31 0 39 39 Cosmic_Gene G G A G G TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 114784 1 34204760 34204760 49 ALL relapse snv SF3A3 splice_region T32_E1splice_region NM_006802 10-PAPVTA SF3A3 INTRON SNP Somatic 12 0.477 SQHIGH 10 22 32 0 57 57 C C T C C TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 10946 1 38455532 38455532 49 ALL relapse snv NRAS missense G12D NM_002524 10-PAPVTA NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 16 0.744 SQHIGH 12 8 20 0 33 33 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 4893 1 115258747 115258747 63 ALL relapse snv SLC3A1 missense G121V NM_000341 10-PAPVTA SLC3A1 MISSENSE SNP Somatic 8 0.301 SQHIGH 10 9 19 0 42 42 G G T G G TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 6519 2 44503036 44503036 60 ALL relapse snv UGGT1 missense A64T NM_020120 10-PAPVTA UGGT1 MISSENSE,UTR SNP Somatic 6 0.245 SQHIGH 12 30 42 1 73 74 Cosmic_Gene G G A G G TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 56886 2 128855134 128855134 48 ALL relapse snv CDH18 missense R596H NM_004934 10-PAPVTA CDH18 MISSENSE SNP Somatic 7 0.272 SQHIGH 7 7 14 0 32 32 Cosmic_Gene C C T C C TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 1016 5 19483505 19483505 42 ALL relapse snv KIF2A missense K448N NM_004520 10-PAPVTA KIF2A MISSENSE SNP Somatic 5 0.218 SQHIGH 6 6 12 0 23 23 A A C A A TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 3796 5 61659603 61659603 32 ALL relapse snv MAP1B missense D2175N NM_005909 10-PAPVTA MAP1B MISSENSE SNP Somatic 8 0.301 SQHIGH 22 30 52 0 60 60 Cosmic_Gene G G A G G TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 4131 5 71495705 71495705 86 ALL relapse snv LOC100505841 missense R101C NM_001195535 10-PAPVTA LOC100505841 MISSENSE SNP Somatic 6 0.245 SQHIGH 7 16 23 0 33 33 C C T C C TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 100505841 5 121518272 121518272 30 ALL relapse snv PTK2 missense W774R NM_153831 10-PAPVTA PTK2 MISSENSE SNP Somatic 16 0.744 SQHIGH 15 8 23 0 51 51 Cosmic_Gene A A G A A TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 5747 8 141712716 141712716 96 ALL relapse snv TAF1L nonsense R916* NM_153809 10-PAPVTA TAF1L NONSENSE SNP Somatic PFAM:PF12157:DUF3591 14 0.618 SQHIGH 9 26 35 0 51 51 Cosmic_Gene G G A G G TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 138474 9 32632832 32632832 38 ALL relapse snv MORN5 missense A63P NM_198469 10-PAPVTA MORN5 MISSENSE SNP Somatic 10 0.377 SQHIGH 16 19 35 0 67 67 G G C G G TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 254956 9 124929186 124929186 87 ALL relapse snv MAN1B1 missense E330Q NM_016219 10-PAPVTA MAN1B1 MISSENSE SNP Somatic PFAM:PF01532:Glyco_hydro_47 16 0.744 SQHIGH 14 24 38 0 54 54 Cosmic_Gene G G C G G TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 11253 9 139995528 139995528 61 ALL relapse snv POLA2 silent I224I NM_002689 10-PAPVTA POLA2 SYNONYMOUS SNP Somatic PFAM:PF08418:Pol_alpha_B_N 20 1.000 SQHIGH 17 21 38 0 53 53 A A C A A TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 23649 11 65047025 65047025 76 ALL relapse snv ZFHX2 missense P2193R NM_033400 10-PAPVTA ZFHX2 MISSENSE SNP Somatic -6 0.078 SQHIGH 15 51 66 0 35 35 G G C G G TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 85446 14 23992573 23992573 30 ALL relapse snv CREBBP missense R1446H NM_004380 10-PAPVTA CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 14 0.618 SQHIGH 41 5 46 0 55 55 COSMIC:mut:88748 Cosmic_Gene C T T C C TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 1387 16 3788617 3788617 224 ALL relapse mnv DMKN missense H148P NM_001126056 10-PAPVTA DMKN TSS-UPSTREAM,MISSENSE Sub Somatic -33 0.001 2 25 27 0 37 37 Cosmic_Gene AT AT CG AT AT TARGET-10-PAPVTA-04A-01D TARGET-10-PAPVTA-10A-01D 93099 19 36003675 36003676 8 ALL diagnosis snv CSMD2 silent S743S NM_052896 10-PAPVTA CSMD2 SYNONYMOUS SNP Somatic 6 0.270 SQHIGH 42 52 94 0 39 39 Cosmic_Gene G G A G G TARGET-10-PAPVTA-09A-01D TARGET-10-PAPVTA-10A-01D 114784 1 34204760 34204760 79 ALL diagnosis snv NRAS missense G12D NM_002524 10-PAPVTA NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 6 0.270 SQHIGH 10 38 48 0 33 33 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PAPVTA-09A-01D TARGET-10-PAPVTA-10A-01D 4893 1 115258747 115258747 25 ALL diagnosis snv MAP1B missense D2175N NM_005909 10-PAPVTA MAP1B MISSENSE SNP Somatic 3 0.173 SQHIGH 36 50 86 0 60 60 Cosmic_Gene G G A G G TARGET-10-PAPVTA-09A-01D TARGET-10-PAPVTA-10A-01D 4131 5 71495705 71495705 100 ALL diagnosis snv LOC100505841 missense R101C NM_001195535 10-PAPVTA LOC100505841 MISSENSE SNP Somatic 15 0.771 SQHIGH 23 18 41 0 33 33 C C T C C TARGET-10-PAPVTA-09A-01D TARGET-10-PAPVTA-10A-01D 100505841 5 121518272 121518272 76 ALL diagnosis snv ZFHX2 missense P2193R NM_033400 10-PAPVTA ZFHX2 MISSENSE SNP Somatic -6 0.066 SQHIGH 38 69 107 0 35 35 G G C G G TARGET-10-PAPVTA-09A-01D TARGET-10-PAPVTA-10A-01D 85446 14 23992573 23992573 56 ALL relapse snv NRAS missense G13D NM_002524 10-PAPZNK NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 13 0.629 SQHIGH 15 22 37 0 42 42 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 4893 1 115258744 115258744 58 ALL relapse snv OLFML2B missense V452A NM_015441 10-PAPZNK OLFML2B MISSENSE SNP Somatic 4 0.217 SQHIGH 10 24 34 0 41 41 Cosmic_Gene A A G A A TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 25903 1 161967734 161967734 38 ALL relapse snv LOC102724919 EXON E1_exon NM_002597 10-PAPZNK PDC INTRON,TSS-UPSTREAM SNP Somatic -3 0.099 SQHIGH 10 12 22 0 30 30 Cosmic_Gene G G T G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 5132 1 186420345 186420345 44 ALL relapse snv USH2A missense S3851N NM_206933 10-PAPZNK USH2A MISSENSE SNP Somatic PFAM:PF00041:fn3 -3 0.099 SQHIGH 9 10 19 0 16 16 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 7399 1 215914876 215914876 29 ALL relapse snv UNC80 missense R253Q NM_032504 10-PAPZNK UNC80 MISSENSE SNP Somatic 7 0.312 SQHIGH 15 17 32 0 30 30 G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 285175 2 210654289 210654289 52 ALL relapse snv ACKR3 silent A89A NM_020311 10-PAPZNK ACKR3 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 -4 0.088 SQHIGH 8 38 46 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 57007 2 237489375 237489375 24 ALL relapse snv ALPK1 silent A885A NM_025144 10-PAPZNK ALPK1 SYNONYMOUS SNP dbsnp.126:rs35129721 Somatic -6 0.074 SQHIGH 8 39 47 0 36 36 Cosmic_Gene G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 80216 4 113353358 113353358 21 ALL relapse snv NDST4 missense G501V NM_022569 10-PAPZNK NDST4 MISSENSE SNP Somatic PFAM:PF12062:HSNSD -36 0.001 4 20 24 0 29 29 Cosmic_Gene C C A C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 64579 4 115856396 115856396 14 ALL relapse snv TRPC3 missense H242Y NM_001130698 10-PAPZNK TRPC3 MISSENSE SNP Somatic 4 0.217 SQHIGH 8 13 21 1 28 29 Cosmic_Gene G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 7222 4 122853689 122853689 26 ALL relapse snv C9 silent G179G NM_001737 10-PAPZNK C9 SYNONYMOUS SNP Somatic 8 0.352 SQHIGH 21 20 41 0 41 41 T T C T T TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 735 5 39331856 39331856 78 ALL relapse snv PCDHAC1 missense A603V NM_018898 10-PAPZNK PCDHA4|PCDHA11|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHAC1|PCDHA7|PCDHA10|PCDHA13|PCDHA12|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic PFAM:PF00028:Cadherin 10 0.447 SQHIGH 14 22 36 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 56144|56138|56147|9752|56143|56140|56142|56135|56141|56139|56136|56137|56145|56146 5 140308285 140308285 55 ALL relapse snv SPINK5 missense R790Q NM_001127698 10-PAPZNK SPINK5 MISSENSE SNP Somatic PFAM:PF00050:Kazal_1 14 0.697 SQHIGH 34 30 64 0 47 47 Cosmic_Gene G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 11005 5 147499627 147499627 104 ALL relapse snv NKAIN2 splice T17_E2splice NM_001300737 10-PAPZNK NKAIN2 INTRON SNP Somatic 14 0.697 SQHIGH 15 11 26 0 24 24 G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 154215 6 124443087 124443087 55 ALL relapse snv FNDC1 missense S1847F NM_032532 10-PAPZNK FNDC1 MISSENSE SNP Somatic 8 0.352 SQHIGH 23 27 50 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 84624 6 159688929 159688929 64 ALL relapse snv LAMB1 splice_region G952_E22splice_region NM_002291 10-PAPZNK LAMB1 ACCEPTOR SNP Somatic -33 0.003 3 28 31 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 3912 7 107594208 107594208 12 ALL relapse snv UNC5D missense R222W NM_080872 10-PAPZNK UNC5D MISSENSE SNP Somatic PFAM:PF00047:ig -4 0.088 SQHIGH 6 27 33 0 38 38 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 137970 8 35541158 35541158 21 ALL relapse snv PCDH15 silent S420S NM_001142763 10-PAPZNK PCDH15 SYNONYMOUS SNP Somatic -5 0.081 SQHIGH 4 14 18 0 12 12 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 65217 10 55955503 55955503 10 ALL relapse snv NT5C2 missense R367Q NM_012229 10-PAPZNK NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase -13 0.040 7 51 58 0 29 29 C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 22978 10 104852955 104852955 13 ALL relapse snv NT5C2 missense S360P NM_012229 10-PAPZNK NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 6 0.278 SQHIGH 14 29 43 0 34 34 A A G A A TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 22978 10 104852977 104852977 40 ALL relapse snv CAT missense R203Q NM_001752 10-PAPZNK CAT MISSENSE SNP Somatic -6 0.074 SQHIGH 10 55 65 0 48 48 Cosmic_Gene G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 847 11 34475370 34475370 25 ALL relapse snv ITPR2 missense V2489M NM_002223 10-PAPZNK ITPR2 MISSENSE SNP Somatic -38 0.001 2 14 16 0 16 16 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 3709 12 26553126 26553126 6 ALL relapse snv RBM26 missense R141G NM_022118 10-PAPZNK RBM26 MISSENSE SNP Somatic 3 0.194 SQHIGH 14 19 33 1 29 30 Cosmic_Gene G G C G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 64062 13 79945293 79945293 37 ALL relapse snv TEP1 silent L545L NM_007110 10-PAPZNK TEP1 SYNONYMOUS SNP Somatic PFAM:PF05731:TROVE -14 0.036 5 35 40 0 39 39 Cosmic_Gene G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 7011 14 20864804 20864804 15 ALL relapse snv SETD3 missense W427C NM_032233 10-PAPZNK SETD3 MISSENSE SNP Somatic PFAM:PF09273:Rubis-subs-bind -5 0.081 SQHIGH 13 46 59 0 49 49 C C A C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 84193 14 99866493 99866493 37 ALL relapse snv GABRB3 silent L469L NM_000814 10-PAPZNK GABRB3 SYNONYMOUS SNP Somatic 0 0.140 SQHIGH 16 20 36 1 38 39 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 2562 15 26792955 26792955 50 ALL relapse snv SPSB3 missense R286C NM_080861 10-PAPZNK MRPS34|SPSB3 TSS-UPSTREAM|MISSENSE SNP Somatic 17 0.906 SQHIGH 17 16 33 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 65993|90864 16 1827310 1827310 68 ALL relapse snv GSE1 missense E861K NM_014615 10-PAPZNK GSE1 MISSENSE SNP Somatic PFAM:PF12540:DUF3736 8 0.352 SQHIGH 29 19 48 0 39 39 Cosmic_Gene G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 23199 16 85697157 85697157 99 ALL relapse snv HNF1B missense N509D NM_000458 10-PAPZNK HNF1B MISSENSE SNP Somatic PFAM:PF04812:HNF-1B_C -10 0.052 SQHIGH 4 29 33 0 38 38 Cosmic_Gene T T C T T TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 6928 17 36060997 36060997 14 ALL relapse snv KPNB1 missense I325V NM_002265 10-PAPZNK KPNB1 MISSENSE SNP Somatic 11 0.502 SQHIGH 22 27 49 0 46 46 Cosmic_Gene A A G A A TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 3837 17 45742498 45742498 76 ALL relapse snv SLC39A3 silent D228D NM_144564 10-PAPZNK SLC39A3 SYNONYMOUS SNP Somatic PFAM:PF02535:Zip 8 0.352 SQHIGH 6 8 14 0 20 20 G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 29985 19 2733010 2733010 27 ALL relapse snv C5AR2 missense R19H NM_018485 10-PAPZNK C5AR2 MISSENSE SNP Somatic 13 0.629 SQHIGH 18 22 40 1 51 52 Cosmic_Gene G G A G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 27202 19 47844112 47844112 66 ALL relapse snv POLD1 silent G764G NM_002691 10-PAPZNK POLD1 SYNONYMOUS SNP dbsnp.134:rs146960286 Somatic 4 0.217 SQHIGH 10 32 42 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 5424 19 50917040 50917040 33 ALL relapse snv FPR2 silent Y302Y NM_001462 10-PAPZNK FPR2 SYNONYMOUS SNP dbsnp.134:rs143928920 Somatic PFAM:PF00001:7tm_1 -14 0.036 5 38 43 1 28 29 Cosmic_Gene C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 2358 19 52272817 52272817 7 ALL relapse snv PRND missense A80V NM_012409 10-PAPZNK PRND MISSENSE SNP Somatic PFAM:PF00377:Prion 2 0.175 SQHIGH 11 30 41 0 48 48 C C T C C TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 23627 20 4705436 4705436 41 ALL relapse snv SGSM3 splice_region V207_E8splice_region NM_015705 10-PAPZNK SGSM3 ACCEPTOR SNP Somatic -3 0.099 SQHIGH 6 13 19 1 21 22 Cosmic_Gene G G T G G TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 27352 22 40801648 40801648 15 ALL relapse complex DEPDC5 frameshift T479_R482fs NM_014662 10-PAPZNK DEPDC5 FRAMESHIFT Sub Somatic -5 0.432 SQHIGH 14 27 41 0 52 52 Cosmic_Gene ACCACCTGCA ACCACCTGCA AGG ACCACCTGCA ACCACCTGCA TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 9681 22 32206617 32206626 56 ALL diagnosis snv TRPC3 missense H242Y NM_001130698 10-PAPZNK TRPC3 MISSENSE SNP Somatic 4 0.217 SQHIGH 10 19 29 1 28 29 Cosmic_Gene G G A G G TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 7222 4 122853689 122853689 26 ALL diagnosis snv PCDHAC1 missense A603V NM_018898 10-PAPZNK PCDHA4|PCDHA11|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHAC1|PCDHA7|PCDHA10|PCDHA13|PCDHA12|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic PFAM:PF00028:Cadherin 6 0.277 SQHIGH 22 30 52 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 56144|56138|56147|9752|56143|56140|56142|56135|56141|56139|56136|56137|56145|56146 5 140308285 140308285 69 ALL diagnosis snv SPINK5 missense R790Q NM_001127698 10-PAPZNK SPINK5 MISSENSE SNP Somatic PFAM:PF00050:Kazal_1 13 0.628 SQHIGH 26 26 52 0 47 47 Cosmic_Gene G G A G G TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 11005 5 147499627 147499627 90 ALL diagnosis snv NKAIN2 splice T17_E2splice NM_001300737 10-PAPZNK NKAIN2 INTRON SNP Somatic 14 0.696 SQHIGH 16 10 26 0 24 24 G G A G G TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 154215 6 124443087 124443087 60 ALL diagnosis snv FNDC1 missense S1847F NM_032532 10-PAPZNK FNDC1 MISSENSE SNP Somatic 14 0.696 SQHIGH 21 26 47 0 34 34 Cosmic_Gene C C T C C TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 84624 6 159688929 159688929 60 ALL diagnosis snv NTRK2 silent I816I NM_006180 10-PAPZNK NTRK2 SYNONYMOUS SNP Somatic -3 0.098 SQHIGH 11 29 40 0 29 29 Cosmic_Gene C C T C C TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 4915 9 87636283 87636283 29 ALL diagnosis snv GABRB3 silent L469L NM_000814 10-PAPZNK GABRB3 SYNONYMOUS SNP Somatic 0 0.140 SQHIGH 21 19 40 1 38 39 Cosmic_Gene C C T C C TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 2562 15 26792955 26792955 66 ALL diagnosis snv SPSB3 missense R286C NM_080861 10-PAPZNK MRPS34|SPSB3 TSS-UPSTREAM|MISSENSE SNP Somatic 18 0.951 SQHIGH 16 13 29 0 37 37 Cosmic_Gene G G A G G TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 65993|90864 16 1827310 1827310 71 ALL diagnosis snv GSE1 missense E861K NM_014615 10-PAPZNK GSE1 MISSENSE SNP Somatic PFAM:PF12540:DUF3736 8 0.352 SQHIGH 23 22 45 0 39 39 Cosmic_Gene G G A G G TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 23199 16 85697157 85697157 78 ALL diagnosis snv ZBTB4 silent D31D NM_020899 10-PAPZNK ZBTB4 SYNONYMOUS SNP Somatic PFAM:PF00651:BTB 13 0.628 SQHIGH 11 14 25 1 24 25 Cosmic_Gene G G A G G TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 57659 17 7370028 7370028 30 ALL diagnosis snv KPNB1 missense I325V NM_002265 10-PAPZNK KPNB1 MISSENSE SNP Somatic 10 0.447 SQHIGH 17 23 40 0 46 46 Cosmic_Gene A A G A A TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 3837 17 45742498 45742498 67 ALL diagnosis snv SLC39A3 silent D228D NM_144564 10-PAPZNK SLC39A3 SYNONYMOUS SNP Somatic PFAM:PF02535:Zip 9 0.398 SQHIGH 7 6 13 0 20 20 G G A G G TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 29985 19 2733010 2733010 34 ALL diagnosis snv C5AR2 missense R19H NM_018485 10-PAPZNK C5AR2 MISSENSE SNP Somatic 12 0.561 SQHIGH 18 23 41 1 51 52 Cosmic_Gene G G A G G TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 27202 19 47844112 47844112 64 ALL diagnosis snv C5AR2 missense T144M NM_018485 10-PAPZNK C5AR2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 2 0.174 SQHIGH 5 14 19 0 22 22 Cosmic_Gene C C T C C TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 27202 19 47844487 47844487 18 ALL diagnosis snv PRND missense A80V NM_012409 10-PAPZNK PRND MISSENSE SNP Somatic PFAM:PF00377:Prion 15 0.772 SQHIGH 31 19 50 0 48 48 C C T C C TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 23627 20 4705436 4705436 120 ALL diagnosis snv KDM5C missense G1134E NM_004187 10-PAPZNK KDM5C MISSENSE SNP Somatic 0 0.140 SQHIGH 9 7 16 0 33 33 Cosmic_Gene C C T C C TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 8242 X 53224150 53224150 53 ALL diagnosis complex DEPDC5 frameshift T479_R482fs NM_014662 10-PAPZNK DEPDC5 FRAMESHIFT Sub Somatic -4 0.475 SQHIGH 9 22 31 0 52 52 Cosmic_Gene ACCACCTGCA ACCACCTGCA AGG ACCACCTGCA ACCACCTGCA TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 9681 22 32206617 32206626 42 ALL relapse snv NFKBIL1 nonsense E11* NM_005007 10-PAPZST ATP6V1G2-DDX39B|ATP6V1G2|NFKBIL1 TSS-UPSTREAM|TSS-UPSTREAM|INTRON,NONSENSE SNP Somatic -7 0.080 SQHIGH 7 24 31 0 33 33 G G T G G TARGET-10-PAPZST-04A-01D TARGET-10-PAPZST-14A-01D 100532737|534|4795 6 31515502 31515502 24 ALL relapse snv MARS missense G56V NM_004990 10-PAPZST MARS MISSENSE SNP Somatic -38 0.001 3 17 20 0 38 38 Cosmic_Gene G G T G G TARGET-10-PAPZST-04A-01D TARGET-10-PAPZST-14A-01D 4141 12 57882859 57882859 14 ALL relapse snv PIEZO2 missense Q2537L NM_022068 10-PAPZST PIEZO2 MISSENSE SNP Somatic PFAM:PF12166:DUF3595 4 0.279 SQHIGH 23 16 39 0 37 37 T T A T T TARGET-10-PAPZST-04A-01D TARGET-10-PAPZST-14A-01D 63895 18 10680199 10680199 87 ALL relapse snv ZNF676 silent I497I NM_001001411 10-PAPZST ZNF676 SYNONYMOUS SNP Somatic -2 0.133 SQHIGH 9 29 38 1 33 34 T T A T T TARGET-10-PAPZST-04A-01D TARGET-10-PAPZST-14A-01D 163223 19 22363028 22363028 20 ALL relapse snv ARHGAP35 silent A122A NM_004491 10-PAPZST ARHGAP35 SYNONYMOUS SNP Somatic -1 0.152 SQHIGH 17 19 36 1 29 30 G G A G G TARGET-10-PAPZST-04A-01D TARGET-10-PAPZST-14A-01D 2909 19 47422298 47422298 44 ALL relapse snv SLC4A11 missense V507I NM_032034 10-PAPZST SLC4A11 MISSENSE SNP Somatic PFAM:PF00955:HCO3_cotransp 7 0.401 SQHIGH 12 9 21 1 27 28 Cosmic_Gene C C T C C TARGET-10-PAPZST-04A-01D TARGET-10-PAPZST-14A-01D 83959 20 3210851 3210851 45 ALL diagnosis snv PLXNA2 missense I1618M NM_025179 10-PAPZST PLXNA2 MISSENSE SNP Somatic PFAM:PF08337:Plexin_cytopl -8 0.076 SQHIGH 5 25 30 0 28 28 Cosmic_Gene G G C G G TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 5362 1 208207848 208207848 15 ALL diagnosis snv RYR2 missense M655K NM_001035 10-PAPZST RYR2 MISSENSE SNP Somatic PFAM:PF01365:RYDR_ITPR -10 0.065 SQHIGH 8 39 47 0 35 35 Cosmic_Gene T T A T T TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 6262 1 237659813 237659813 21 ALL diagnosis snv CDSN silent F519F NM_001264 10-PAPZST CDSN|C6orf15|PSORS1C1 SYNONYMOUS|TSS-UPSTREAM|INTRON SNP Somatic 11 0.599 SQHIGH 10 24 34 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 1041|29113|170679 6 31083835 31083835 32 ALL diagnosis snv JAK2 missense R683G NM_004972 10-PAPZST JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr -4 0.111 SQHIGH 9 18 27 0 17 17 COSMIC:mut:29300 Cosmic_Gene A A G A A TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 3717 9 5078360 5078360 22 ALL diagnosis snv CCDC171 splice_region A118_E5splice_region NM_173550 10-PAPZST CCDC171 ACCEPTOR SNP Somatic 0 0.178 SQHIGH 17 16 33 0 43 43 T T A T T TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 203238 9 15591355 15591355 75 ALL diagnosis snv MAMDC4 missense S521N NM_206920 10-PAPZST MAMDC4 MISSENSE SNP Somatic PFAM:PF00629:MAM -7 0.084 SQHIGH 6 18 24 0 17 17 Cosmic_Gene G G A G G TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 158056 9 139750274 139750274 15 ALL diagnosis snv FAM35A missense S74C NM_019054 10-PAPZST FAM35A MISSENSE SNP Somatic -1 0.157 SQHIGH 8 19 27 0 21 21 Cosmic_Gene A A T A A TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 54537 10 88911331 88911331 22 ALL diagnosis snv PIGH missense G149R NM_004569 10-PAPZST PIGH MISSENSE SNP Somatic PFAM:PF10181:PIG-H 11 0.599 SQHIGH 11 15 26 0 24 24 Cosmic_Gene C C T C C TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 5283 14 68059381 68059381 37 ALL diagnosis snv PIEZO2 missense Q2537L NM_022068 10-PAPZST PIEZO2 MISSENSE SNP Somatic PFAM:PF12166:DUF3595 4 0.281 SQHIGH 13 17 30 0 37 37 T T A T T TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 63895 18 10680199 10680199 53 ALL diagnosis snv MED26 missense K465M NM_004831 10-PAPZST MED26|SLC35E1 MISSENSE|TSS-UPSTREAM SNP Somatic -6 0.093 SQHIGH 4 21 25 0 29 29 Cosmic_Gene T T A T T TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 9441|79939 19 16687247 16687247 14 ALL diagnosis snv ARHGAP35 silent A122A NM_004491 10-PAPZST ARHGAP35 SYNONYMOUS SNP Somatic -1 0.157 SQHIGH 15 13 28 1 29 30 G G A G G TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 2909 19 47422298 47422298 48 ALL diagnosis snv SLC4A11 missense V507I NM_032034 10-PAPZST SLC4A11 MISSENSE SNP Somatic PFAM:PF00955:HCO3_cotransp 6 0.356 SQHIGH 7 15 22 1 27 28 Cosmic_Gene C C T C C TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 83959 20 3210851 3210851 20 ALL diagnosis snv BCOR missense P223A NM_017745 10-PAPZST BCOR MISSENSE SNP Somatic -7 0.084 SQHIGH 3 14 17 0 29 29 Cosmic_Gene G G C G G TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 54880 X 39933932 39933932 13 ALL diagnosis snv CT47B1 missense Y136S NM_001145718 10-PAPZST CT47B1 MISSENSE SNP Somatic 2 0.224 SQHIGH 11 41 52 0 50 50 T T G T T TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 643311 X 120009118 120009118 35 ALL diagnosis snv CT47B1 missense R133H NM_001145718 10-PAPZST CT47B1 MISSENSE SNP Somatic 2 0.224 SQHIGH 11 54 65 2 67 69 C C T C C TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 643311 X 120009127 120009127 22 ALL relapse snv TTN missense R10956I NM_133378 10-PARACA TTN MISSENSE SNP Somatic 2 0.110 SQHIGH 11 11 22 0 32 32 Cosmic_Gene C C A C C TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D 7273 2 179506030 179506030 51 ALL relapse snv ITIH4 silent S114S NM_002218 10-PARACA ITIH4 SYNONYMOUS SNP Somatic PFAM:PF08487:VIT 16 0.741 SQHIGH 13 24 37 1 36 37 Cosmic_Gene G G A G G TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D 3700 3 52861123 52861123 35 ALL relapse snv FREM1 silent T1356T NM_144966 10-PARACA FREM1 SYNONYMOUS SNP Somatic 11 0.331 SQHIGH 16 30 46 1 59 60 Cosmic_Gene G G A G G TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D 158326 9 14789026 14789026 55 ALL relapse snv SMC3 splice N470_E14splice NM_005445 10-PARACA SMC3 DISRUPT SNP Somatic 14 0.522 SQHIGH 13 24 37 0 45 45 Cosmic_Gene G G A G G TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D 9126 10 112349467 112349467 51 ALL relapse snv ENO4 silent P224P NM_001242699 10-PARACA ENO4 SYNONYMOUS SNP Somatic 12 0.379 SQHIGH 17 27 44 0 57 57 Cosmic_Gene T T G T T TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D 387712 10 118620342 118620342 71 ALL relapse snv MYO1F missense A659V NM_012335 10-PARACA MYO1F MISSENSE SNP Somatic 12 0.379 SQHIGH 13 21 34 1 33 34 Cosmic_Gene G G A G G TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D 4542 19 8601203 8601203 36 ALL relapse snv DIP2A missense A203G NM_015151 10-PARACA DIP2A MISSENSE SNP Somatic 2 0.110 SQHIGH 13 20 33 0 53 53 Cosmic_Gene C C G C C TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D 23181 21 47918699 47918699 62 ALL relapse snv PRORY silent S35S NM_001282471 10-PARACA SNP Somatic 18 0.924 SQHIGH 21 2 23 0 24 24 C T C TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D Y 23545667 23545667 107 ALL diagnosis snv PBX1 missense H178Y NM_002585 10-PARACA PBX1 MISSENSE SNP Somatic PFAM:PF03792:PBC 4 0.127 SQHIGH 12 43 55 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D 5087 1 164768957 164768957 34 ALL diagnosis snv ITIH4 silent S114S NM_002218 10-PARACA ITIH4 SYNONYMOUS SNP Somatic PFAM:PF08487:VIT 15 0.661 SQHIGH 25 19 44 1 36 37 Cosmic_Gene G G A G G TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D 3700 3 52861123 52861123 73 ALL diagnosis snv FREM1 silent T1356T NM_144966 10-PARACA FREM1 SYNONYMOUS SNP Somatic 14 0.513 SQHIGH 18 25 43 1 59 60 Cosmic_Gene G G A G G TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D 158326 9 14789026 14789026 68 ALL diagnosis snv ENO4 silent P224P NM_001242699 10-PARACA ENO4 SYNONYMOUS SNP Somatic 11 0.317 SQHIGH 23 30 53 0 57 57 Cosmic_Gene T T G T T TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D 387712 10 118620342 118620342 87 ALL diagnosis snv GPR97 missense V310M NM_170776 10-PARACA GPR97 MISSENSE SNP Somatic PFAM:PF00002:7tm_2 -8 0.043 SQHIGH 9 54 63 0 65 65 Cosmic_Gene G G A G G TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D 222487 16 57717890 57717890 29 ALL diagnosis snv MYO1F missense A659V NM_012335 10-PARACA MYO1F MISSENSE SNP Somatic 15 0.661 SQHIGH 15 16 31 1 33 34 Cosmic_Gene G G A G G TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D 4542 19 8601203 8601203 48 ALL diagnosis snv DIP2A missense A203G NM_015151 10-PARACA DIP2A MISSENSE SNP Somatic 2 0.104 SQHIGH 13 22 35 0 53 53 Cosmic_Gene C C G C C TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D 23181 21 47918699 47918699 59 ALL diagnosis snv PRORY silent S35S NM_001282471 10-PARACA SNP Somatic 13 0.429 SQHIGH 16 2 18 0 24 24 C T C TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D Y 23545667 23545667 90 ALL relapse snv TAS1R2 missense R597H NM_152232 10-PARAKF TAS1R2 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 17 0.862 SQHIGH 32 37 69 0 59 59 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 80834 1 19166823 19166823 105 ALL relapse snv TNNT2 splice_region R78_E8splice_region NM_000364 10-PARAKF TNNT2 DONOR SNP Somatic 17 0.862 SQHIGH 33 34 67 0 58 58 C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 7139 1 201335963 201335963 111 ALL relapse snv KCNK2 silent T74T NM_001017424 10-PARAKF KCNK2 SYNONYMOUS SNP Somatic 11 0.309 SQHIGH 39 33 72 0 73 73 C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 3776 1 215259898 215259898 150 ALL relapse snv ABCA12 missense T1415K NM_173076 10-PARAKF ABCA12 MISSENSE SNP Somatic 20 1.000 SQHIGH 16 19 35 0 39 39 Cosmic_Gene G G T G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 26154 2 215848509 215848509 62 ALL relapse snv MLPH missense P429L NM_024101 10-PARAKF MLPH MISSENSE SNP Somatic 4 0.128 SQHIGH 28 43 71 1 82 83 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 79083 2 238449172 238449172 97 ALL relapse snv CHST13 missense S182L NM_152889 10-PARAKF CHST13 MISSENSE SNP Somatic PFAM:PF03567:Sulfotransfer_2 13 0.414 SQHIGH 18 18 36 0 18 18 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 166012 3 126260940 126260940 40 ALL relapse snv LPP-AS1 EXON E5_exon NM_005578 10-PARAKF LPP INTRON SNP Somatic 4 0.128 SQHIGH 25 43 68 0 47 47 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 4026 3 188280135 188280135 67 ALL relapse snv ZFYVE28 missense R859H NM_020972 10-PARAKF ZFYVE28 MISSENSE SNP Somatic 12 0.356 SQHIGH 16 30 46 0 37 37 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 57732 4 2272540 2272540 47 ALL relapse snv FSTL4 missense E60K NM_015082 10-PARAKF FSTL4 MISSENSE SNP Somatic 16 0.706 SQHIGH 14 25 39 0 36 36 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 23105 5 132736661 132736661 46 ALL relapse snv PCDHA4 silent A706A NM_018907 10-PARAKF PCDHA4|PCDHA1|PCDHA3|PCDHA2 SYNONYMOUS|INTRON|INTRON|INTRON SNP Somatic 13 0.414 SQHIGH 18 19 37 0 30 30 Cosmic_Gene G G A G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 56144|56147|56145|56146 5 140188890 140188890 57 ALL relapse snv PCDHB4 missense H178Q NM_018938 10-PARAKF PCDHB4 MISSENSE SNP Somatic 2 0.106 SQHIGH 27 54 81 0 71 71 Cosmic_Gene C C A C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 56131 5 140502114 140502114 84 ALL relapse snv GABBR1 missense G806V NM_001470 10-PARAKF GABBR1 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 10 0.268 SQHIGH 20 33 53 1 56 57 Cosmic_Gene C C A C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 2550 6 29573368 29573368 62 ALL relapse snv IMPG1 splice_region D23_E1splice_region NM_001563 10-PARAKF IMPG1 DONOR SNP Somatic 18 0.894 SQHIGH 12 16 28 0 31 31 Cosmic_Gene T T A T T TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 3617 6 76782136 76782136 46 ALL relapse snv MARCKS missense A15T NM_002356 10-PARAKF MARCKS MISSENSE SNP Somatic 12 0.356 SQHIGH 16 28 44 0 31 31 G G A G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 4082 6 114178964 114178964 43 ALL relapse snv RP1 missense A301D NM_006269 10-PARAKF RP1 MISSENSE SNP Somatic 12 0.356 SQHIGH 14 31 45 1 43 44 Cosmic_Gene C C A C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 6101 8 55537344 55537344 37 ALL relapse snv SNTB1 missense R241W NM_021021 10-PARAKF SNTB1 MISSENSE SNP Somatic 5 0.141 SQHIGH 18 35 53 0 57 57 Cosmic_Gene G G A G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 6641 8 121705999 121705999 65 ALL relapse snv GSDMC missense W313G NM_031415 10-PARAKF GSDMC MISSENSE SNP Somatic PFAM:PF04598:Gasdermin 15 0.630 SQHIGH 33 43 76 0 71 71 Cosmic_Gene A A C A A TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 56169 8 130763794 130763794 113 ALL relapse snv ELAVL2 silent H271H NM_004432 10-PARAKF ELAVL2 SYNONYMOUS SNP Somatic 11 0.309 SQHIGH 19 14 33 1 30 31 Cosmic_Gene G G A G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 1993 9 23692822 23692822 59 ALL relapse snv CDHR1 nonsense R280* NM_033100 10-PARAKF CDHR1 NONSENSE SNP Somatic 11 0.309 SQHIGH 44 60 104 0 120 120 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 92211 10 85964337 85964337 174 ALL relapse snv KCNQ1OT1 EXON E11_exon NM_000218 10-PARAKF KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 13 0.414 SQHIGH 21 13 34 0 35 35 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 3784|10984 11 2701192 2701192 85 ALL relapse snv PGAP2 missense G104S NM_001283039 10-PARAKF PGAP2 SYNONYMOUS,UTR SNP Somatic PFAM:PF10277:Frag1 11 0.309 SQHIGH 31 45 76 0 78 78 G G A G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 27315 11 3845133 3845133 112 ALL relapse snv SOX6 silent T359T NM_017508 10-PARAKF SOX6 SYNONYMOUS SNP dbsnp.134:rs139974161 Somatic 18 0.894 SQHIGH 13 12 25 0 30 30 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 55553 11 16077358 16077358 54 ALL relapse snv ABTB2 silent N307N NM_145804 10-PARAKF ABTB2 SYNONYMOUS SNP dbsnp.134:rs147993026 Somatic 8 0.208 SQHIGH 21 35 56 0 63 63 Cosmic_Gene G G A G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 25841 11 34226200 34226200 79 ALL relapse snv KRAS missense G12S NM_033360 10-PARAKF KRAS MISSENSE SNP dbsnp.133:rs121913530 Somatic 9 0.237 SQHIGH 13 28 41 0 42 42 COSMIC:mut:517 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 3845 12 25398285 25398285 45 ALL relapse snv ATP8A2 silent T430T NM_016529 10-PARAKF ATP8A2 SYNONYMOUS SNP Somatic 11 0.309 SQHIGH 15 15 30 0 28 28 Cosmic_Gene T T G T T TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 51761 13 26133137 26133137 53 ALL relapse snv COL5A3 missense V1258M NM_015719 10-PARAKF COL5A3 MISSENSE SNP Somatic 16 0.706 SQHIGH 21 22 43 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 50509 19 10083597 10083597 94 ALL relapse snv ZNF536 missense G351R NM_014717 10-PARAKF ZNF536 MISSENSE SNP Somatic -20 0.013 3 21 24 0 33 33 Cosmic_Gene G G C G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 9745 19 30935520 30935520 12 ALL relapse snv DMKN missense G27R NM_001126056 10-PARAKF DMKN TSS-UPSTREAM,MISSENSE SNP Somatic 5 0.141 SQHIGH 14 44 58 0 59 59 Cosmic_Gene C C T C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 93099 19 36004299 36004299 47 ALL relapse snv SLC17A7 silent R166R NM_020309 10-PARAKF SLC17A7 SYNONYMOUS SNP Somatic 5 0.141 SQHIGH 20 45 65 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 57030 19 49938076 49938076 59 ALL relapse snv LTN1 missense G11A NM_015565 10-PARAKF LTN1 MISSENSE SNP Somatic 5 0.141 SQHIGH 34 64 98 0 96 96 Cosmic_Gene C C G C C TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 26046 21 30365233 30365233 116 ALL relapse complex GSDMC proteinDel Q314_N315>N NM_031415 10-PARAKF GSDMC SPAN3 Sub Somatic PFAM:PF04598:Gasdermin 1 0.633 SQHIGH 35 72 107 0 114 114 Cosmic_Gene TAATAAATACTTACTTTG TAATAAATACTTACTTTG TT TAATAAATACTTACTTTG TAATAAATACTTACTTTG TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 56169 8 130763774 130763791 125 ALL relapse complex HEATR5A frameshift L1445_A1448fs NM_015473 10-PARAKF HEATR5A FRAMESHIFT Sub Somatic -1 0.493 SQHIGH 18 37 55 0 65 65 Cosmic_Gene CTGCATAGACTAA CTGCATAGACTAA CCCGGGGGGCGAGG CTGCATAGACTAA CTGCATAGACTAA TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 25938 14 31782270 31782282 69 ALL diagnosis snv STRN missense S625R NM_003162 10-PARAKF STRN MISSENSE SNP Somatic -4 0.063 SQHIGH 3 22 25 0 46 46 Cosmic_Gene T T G T T TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 6801 2 37082460 37082460 14 ALL diagnosis snv MLPH missense P429L NM_024101 10-PARAKF MLPH MISSENSE SNP Somatic 12 0.337 SQHIGH 25 24 49 1 82 83 Cosmic_Gene C C T C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 79083 2 238449172 238449172 117 ALL diagnosis snv USP19 silent A589A NM_006677 10-PARAKF USP19 SYNONYMOUS SNP Somatic -7 0.051 SQHIGH 6 44 50 0 53 53 Cosmic_Gene G G T G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 10869 3 49152497 49152497 20 ALL diagnosis snv GPR156 missense A412V NM_153002 10-PARAKF GPR156 MISSENSE SNP Somatic -24 0.010 5 37 42 0 52 52 Cosmic_Gene G G A G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 165829 3 119887089 119887089 18 ALL diagnosis snv ZFYVE28 missense R859H NM_020972 10-PARAKF ZFYVE28 MISSENSE SNP Somatic 11 0.291 SQHIGH 8 17 25 0 37 37 Cosmic_Gene C C T C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 57732 4 2272540 2272540 35 ALL diagnosis snv FSTL4 missense E60K NM_015082 10-PARAKF FSTL4 MISSENSE SNP Somatic 3 0.116 SQHIGH 10 29 39 0 36 36 Cosmic_Gene C C T C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 23105 5 132736661 132736661 31 ALL diagnosis snv BRD8 missense E1077D NM_139199 10-PARAKF BRD8 MISSENSE SNP Somatic 7 0.178 SQHIGH 4 19 23 0 26 26 Cosmic_Gene C C A C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 10902 5 137485376 137485376 14 ALL diagnosis snv PCDHA4 silent A706A NM_018907 10-PARAKF PCDHA4|PCDHA1|PCDHA3|PCDHA2 SYNONYMOUS|INTRON|INTRON|INTRON SNP Somatic 10 0.254 SQHIGH 19 23 42 0 30 30 Cosmic_Gene G G A G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 56144|56147|56145|56146 5 140188890 140188890 54 ALL diagnosis snv PCDHA6 missense V418M NM_018909 10-PARAKF PCDHA4|PCDHA1|PCDHA5|PCDHA6|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON SNP Somatic -5 0.058 SQHIGH 19 37 56 0 49 49 Cosmic_Gene G G A G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 56144|56147|56143|56142|56145|56146 5 140208928 140208928 59 ALL diagnosis snv PCDHB4 missense H178Q NM_018938 10-PARAKF PCDHB4 MISSENSE SNP Somatic 8 0.199 SQHIGH 18 32 50 0 71 71 Cosmic_Gene C C A C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 56131 5 140502114 140502114 78 ALL diagnosis snv PCDHGB5 silent L167L NM_018925 10-PARAKF PCDHGA8|PCDHGA3|PCDHGB3|PCDHGB5|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic -18 0.019 6 60 66 0 73 73 Cosmic_Gene G G T G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 9708|56112|56102|56101|56111|56107|56104|56108|8641|56113|56110|56114|56109|56103 5 140778195 140778195 20 ALL diagnosis snv SH3PXD2B missense R760P NM_001017995 10-PARAKF SH3PXD2B MISSENSE SNP Somatic -7 0.051 SQHIGH 9 38 47 1 41 42 Cosmic_Gene C C G C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 285590 5 171765830 171765830 19 ALL diagnosis snv IMPG1 splice_region D23_E1splice_region NM_001563 10-PARAKF IMPG1 DONOR SNP Somatic 15 0.586 SQHIGH 8 17 25 0 31 31 Cosmic_Gene T T A T T TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 3617 6 76782136 76782136 31 ALL diagnosis snv RP1 missense A301D NM_006269 10-PARAKF RP1 MISSENSE SNP Somatic 17 0.820 SQHIGH 23 24 47 1 43 44 Cosmic_Gene C C A C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 6101 8 55537344 55537344 69 ALL diagnosis snv SNTB1 missense R241W NM_021021 10-PARAKF SNTB1 MISSENSE SNP Somatic 5 0.139 SQHIGH 20 36 56 0 57 57 Cosmic_Gene G G A G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 6641 8 121705999 121705999 70 ALL diagnosis snv GSDMC missense W313G NM_031415 10-PARAKF GSDMC MISSENSE SNP Somatic PFAM:PF04598:Gasdermin 15 0.586 SQHIGH 21 38 59 0 71 71 Cosmic_Gene A A C A A TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 56169 8 130763794 130763794 82 ALL diagnosis snv ELAVL2 silent H271H NM_004432 10-PARAKF ELAVL2 SYNONYMOUS SNP Somatic 11 0.291 SQHIGH 17 19 36 1 30 31 Cosmic_Gene G G A G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 1993 9 23692822 23692822 45 ALL diagnosis snv CDHR1 nonsense R280* NM_033100 10-PARAKF CDHR1 NONSENSE SNP Somatic 14 0.473 SQHIGH 44 55 99 0 120 120 Cosmic_Gene C C T C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 92211 10 85964337 85964337 181 ALL diagnosis snv KCNQ1OT1 EXON E11_exon NM_000218 10-PARAKF KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 13 0.394 SQHIGH 15 20 35 0 35 35 Cosmic_Gene C C T C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 3784|10984 11 2701192 2701192 53 ALL diagnosis snv PGAP2 missense G104S NM_001283039 10-PARAKF PGAP2 SYNONYMOUS,UTR SNP Somatic PFAM:PF10277:Frag1 8 0.199 SQHIGH 19 33 52 0 78 78 G G A G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 27315 11 3845133 3845133 86 ALL diagnosis snv SOX6 silent T359T NM_017508 10-PARAKF SOX6 SYNONYMOUS SNP dbsnp.134:rs139974161 Somatic 17 0.820 SQHIGH 12 12 24 0 30 30 Cosmic_Gene C C T C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 55553 11 16077358 16077358 51 ALL diagnosis snv GPR137 silent R305R NM_001170726 10-PARAKF GPR137|BAD|KCNK4 SYNONYMOUS,INTRON|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic -26 0.009 5 33 38 0 61 61 COSMIC:mut:40880 Cosmic_Gene G G A G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 56834|572|50801 11 64055644 64055644 22 ALL diagnosis snv ATP8A2 silent T430T NM_016529 10-PARAKF ATP8A2 SYNONYMOUS SNP Somatic 10 0.254 SQHIGH 14 25 39 0 28 28 Cosmic_Gene T T G T T TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 51761 13 26133137 26133137 38 ALL diagnosis snv HNF1B missense N509D NM_000458 10-PARAKF HNF1B MISSENSE SNP Somatic PFAM:PF04812:HNF-1B_C -6 0.055 SQHIGH 4 39 43 0 48 48 Cosmic_Gene T T C T T TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 6928 17 36060997 36060997 13 ALL diagnosis snv HNF1B missense Q508K NM_000458 10-PARAKF HNF1B MISSENSE SNP Somatic PFAM:PF04812:HNF-1B_C -4 0.063 SQHIGH 4 28 32 0 37 37 Cosmic_Gene G G T G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 6928 17 36061000 36061000 14 ALL diagnosis snv COL5A3 missense V1258M NM_015719 10-PARAKF COL5A3 MISSENSE SNP Somatic 16 0.664 SQHIGH 23 26 49 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 50509 19 10083597 10083597 94 ALL diagnosis snv SLC17A7 silent R166R NM_020309 10-PARAKF SLC17A7 SYNONYMOUS SNP Somatic 9 0.224 SQHIGH 22 30 52 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 57030 19 49938076 49938076 80 ALL diagnosis complex GSDMC proteinDel Q314_N315>N NM_031415 10-PARAKF GSDMC SPAN3 Sub Somatic PFAM:PF04598:Gasdermin -2 0.426 SQHIGH 22 61 83 0 114 114 Cosmic_Gene TAATAAATACTTACTTTG TAATAAATACTTACTTTG TT TAATAAATACTTACTTTG TAATAAATACTTACTTTG TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 56169 8 130763774 130763791 91 ALL diagnosis mnv EPOR missense D482T NM_000121 10-PARAKF EPOR MISSENSE,UTR Sub Somatic -6 0.284 SQHIGH 4 21 25 0 30 30 Cosmic_Gene TC TC GT TC TC TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 2057 19 11488742 11488743 14 ALL diagnosis snv NRBP1 missense R115H NM_013392 10-PARARJ NRBP1 MISSENSE SNP Somatic 6 0.187 SQHIGH 33 54 87 0 64 64 Cosmic_Gene G G A G G TARGET-10-PARARJ-09A-01D TARGET-10-PARARJ-14A-01D 29959 2 27656866 27656866 93 ALL diagnosis snv SLC9A2 missense R641Q NM_003048 10-PARARJ SLC9A2 MISSENSE SNP Somatic 12 0.396 SQHIGH 25 23 48 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARARJ-09A-01D TARGET-10-PARARJ-14A-01D 6549 2 103321079 103321079 100 ALL diagnosis snv PLXNA1 missense R618C NM_032242 10-PARARJ PLXNA1 MISSENSE SNP Somatic 10 0.303 SQHIGH 10 22 32 0 29 29 Cosmic_Gene C C T C C TARGET-10-PARARJ-09A-01D TARGET-10-PARARJ-14A-01D 5361 3 126724041 126724041 31 ALL diagnosis snv ITPR3 missense E1000V NM_002224 10-PARARJ ITPR3 MISSENSE SNP Somatic 12 0.396 SQHIGH 24 34 58 0 56 56 Cosmic_Gene A A T A A TARGET-10-PARARJ-09A-01D TARGET-10-PARARJ-14A-01D 3710 6 33641438 33641438 83 ALL diagnosis snv GABBR2 missense F568L NM_005458 10-PARARJ GABBR2 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 13 0.455 SQHIGH 19 24 43 0 42 42 Cosmic_Gene A A C A A TARGET-10-PARARJ-09A-01D TARGET-10-PARARJ-14A-01D 9568 9 101133812 101133812 67 ALL diagnosis snv ABCA1 missense V1668I NM_005502 10-PARARJ ABCA1 MISSENSE SNP Somatic 14 0.534 SQHIGH 24 30 54 0 52 52 Cosmic_Gene C C T C C TARGET-10-PARARJ-09A-01D TARGET-10-PARARJ-14A-01D 19 9 107560821 107560821 84 ALL diagnosis snv COL4A6 silent S1476S NM_001847 10-PARARJ COL4A6 SYNONYMOUS SNP dbsnp.134:rs149662228 Somatic PFAM:PF01413:C4 8 0.237 SQHIGH 24 36 60 0 56 56 Cosmic_Gene C C T C C TARGET-10-PARARJ-09A-01D TARGET-10-PARARJ-14A-01D 1288 X 107403793 107403793 81 ALL diagnosis complex CYBB frameshift L186_L188fs NM_000397 10-PARARJ CYBB FRAMESHIFT Sub Somatic PFAM:PF01794:Ferric_reduct -9 0.249 SQHIGH 23 34 57 0 66 66 Cosmic_Gene CTCATATT CTCATATT CCC CTCATATT CTCATATT TARGET-10-PARARJ-09A-01D TARGET-10-PARARJ-14A-01D 1536 X 37655276 37655283 90 ALL relapse snv ESPN silent S401S NM_031475 10-PARBRK ESPN SYNONYMOUS SNP Somatic -5 0.101 SQHIGH 8 22 30 0 34 34 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 83715 1 6505734 6505734 29 ALL relapse snv CELA2B missense A23V NM_015849 10-PARBRK CELA2B MISSENSE SNP Somatic 5 0.281 SQHIGH 7 21 28 0 39 39 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 51032 1 15802979 15802979 29 ALL relapse snv PTPRU silent T609T NM_133178 10-PARBRK PTPRU SYNONYMOUS SNP dbsnp.134:rs148921515 Somatic -6 0.093 SQHIGH 5 18 23 0 42 42 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 10076 1 29606612 29606612 24 ALL relapse snv TSSK3 missense T64S NM_052841 10-PARBRK LOC100128071|TSSK3 TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.346 SQHIGH 26 41 67 0 70 70 Cosmic_Gene A A T A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 100128071|81629 1 32829240 32829240 94 ALL relapse snv SLC1A7 silent P3P NM_006671 10-PARBRK SLC1A7 SYNONYMOUS SNP Somatic 8 0.384 SQHIGH 15 21 36 0 33 33 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 6512 1 53608113 53608113 50 ALL relapse snv ABCA4 splice G1592_E34splice NM_000350 10-PARBRK ABCA4 DISRUPT SNP Somatic -9 0.072 SQHIGH 5 29 34 0 49 49 Cosmic_Gene T T C T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 24 1 94487272 94487272 20 ALL relapse snv NRAS missense G13D NM_002524 10-PARBRK NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 16 0.834 SQHIGH 14 18 32 0 39 39 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 4893 1 115258744 115258744 57 ALL relapse snv SLAMF6 silent T70T NM_052931 10-PARBRK SLAMF6 SYNONYMOUS,INTRON SNP Somatic PFAM:PF00047:ig 7 0.346 SQHIGH 17 30 47 0 89 89 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 114836 1 160466023 160466023 88 ALL relapse snv TNR splice_region Q1319_E22splice_region NM_003285 10-PARBRK TNR INTRON SNP Somatic 9 0.427 SQHIGH 11 37 48 0 54 54 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 7143 1 175293485 175293485 39 ALL relapse snv RPS6KC1 missense R928H NM_012424 10-PARBRK RPS6KC1 MISSENSE SNP Somatic 8 0.384 SQHIGH 13 27 40 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 26750 1 213415602 213415602 47 ALL relapse snv FAM84A silent C197C NM_145175 10-PARBRK FAM84A SYNONYMOUS SNP Somatic PFAM:PF04970:NC 2 0.202 SQHIGH 8 15 23 0 28 28 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 151354 2 14774694 14774694 31 ALL relapse snv NT5C1B missense A316T NM_001002006 10-PARBRK NT5C1B-RDH14|NT5C1B MISSENSE|MISSENSE SNP Somatic 9 0.427 SQHIGH 13 28 41 0 82 82 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 100526794|93034 2 18765479 18765479 68 ALL relapse snv FAM136A missense D88H NM_032822 10-PARBRK FAM136A|SNRPG MISSENSE|TSS-UPSTREAM SNP dbsnp.131:rs75086964,dbsnp.132:rs115611836 Somatic PFAM:PF05811:DUF842 -8 0.079 SQHIGH 5 38 43 0 44 44 C C G C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 84908|6637 2 70524576 70524576 16 ALL relapse snv STEAP3 missense R186C NM_182915 10-PARBRK STEAP3 MISSENSE SNP Somatic 5 0.281 SQHIGH 16 40 56 1 66 67 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 55240 2 120005288 120005288 50 ALL relapse snv LYPD6B nonsense R148* NM_177964 10-PARBRK LYPD6B NONSENSE SNP Somatic PFAM:PF00021:UPAR_LY6 13 0.642 SQHIGH 13 12 25 1 51 52 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 130576 2 150069619 150069619 65 ALL relapse snv TTN missense S23466R NM_133378 10-PARBRK TTN|LOC100506866 MISSENSE|INTRON SNP Somatic 9 0.427 SQHIGH 16 32 48 0 80 80 Cosmic_Gene T T G T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 7273|100506866 2 179432759 179432759 76 ALL relapse snv MAP2 missense D1371N NM_002374 10-PARBRK MAP2 INTRON,MISSENSE SNP Somatic PFAM:PF08377:MAP2_projctn 7 0.346 SQHIGH 18 22 40 1 43 44 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 4133 2 210561005 210561005 58 ALL relapse snv COL6A3 silent N1169N NM_004369 10-PARBRK COL6A3 SYNONYMOUS SNP dbsnp.134:rs138426138 Somatic PFAM:PF04811:Sec23_trunk 2 0.202 SQHIGH 16 36 52 1 53 54 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 1293 2 238283227 238283227 45 ALL relapse snv KIF1A splice_region R1235_E35splice_region NM_004321 10-PARBRK KIF1A INTRON SNP Somatic 9 0.427 SQHIGH 14 26 40 0 56 56 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 547 2 241676472 241676472 60 ALL relapse snv SNED1 missense R1168Q NM_001080437 10-PARBRK SNED1 MISSENSE SNP dbsnp.134:rs143822327 Somatic 7 0.346 SQHIGH 18 24 42 0 75 75 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 25992 2 242009530 242009530 93 ALL relapse snv XIRP1 missense Q1472H NM_194293 10-PARBRK XIRP1 UTR3,MISSENSE SNP Somatic 4 0.248 SQHIGH 20 36 56 0 73 73 Cosmic_Gene C C A C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 165904 3 39226521 39226521 83 ALL relapse snv POMGNT2 silent R26R NM_032806 10-PARBRK POMGNT2 SYNONYMOUS SNP Somatic -7 0.085 SQHIGH 9 21 30 2 50 52 Cosmic_Gene A A C A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 84892 3 43122846 43122846 28 ALL relapse snv PRSS50 missense Q345R NM_013270 10-PARBRK PRSS50 MISSENSE SNP Somatic -2 0.135 SQHIGH 11 41 52 0 61 61 T T C T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 29122 3 46753860 46753860 40 ALL relapse snv ZNF589 nonsense Q248* NM_016089 10-PARBRK ZNF589 NONSENSE SNP Somatic 2 0.202 SQHIGH 11 40 51 0 56 56 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 51385 3 48309923 48309923 38 ALL relapse snv CNTN3 missense A864S NM_020872 10-PARBRK CNTN3 MISSENSE SNP Somatic 14 0.711 SQHIGH 10 18 28 0 33 33 Cosmic_Gene C C A C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 5067 3 74334570 74334570 38 ALL relapse snv IQCB1 missense R435H NM_001023570 10-PARBRK IQCB1 MISSENSE SNP dbsnp.134:rs146832128 Somatic 1 0.181 SQHIGH 9 14 23 1 26 27 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9657 3 121500696 121500696 26 ALL relapse snv COL6A6 silent F1161F NM_001102608 10-PARBRK COL6A6 SYNONYMOUS SNP Somatic 6 0.314 SQHIGH 17 41 58 1 82 83 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 131873 3 130293305 130293305 62 ALL relapse snv FGF12 missense G82V NM_021032 10-PARBRK FGF12 MISSENSE SNP Somatic 7 0.346 SQHIGH 8 7 15 0 24 24 Cosmic_Gene C C A C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 2257 3 192078282 192078282 40 ALL relapse snv KIAA0226 missense H73P NM_001145642 10-PARBRK KIAA0226 MISSENSE SNP Somatic PFAM:PF02759:RUN 11 0.525 SQHIGH 8 20 28 0 56 56 T T G T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9711 3 197431478 197431478 41 ALL relapse snv GAK missense V1252M NM_005255 10-PARBRK GAK MISSENSE SNP Somatic -1 0.149 SQHIGH 8 27 35 0 39 39 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 2580 4 843760 843760 28 ALL relapse snv DMP1 silent S280S NM_004407 10-PARBRK DMP1 SYNONYMOUS SNP Somatic PFAM:PF07263:DMP1 2 0.202 SQHIGH 12 51 63 0 69 69 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 1758 4 88583770 88583770 41 ALL relapse snv DROSHA splice_region C7_E3splice_region NM_013235 10-PARBRK DROSHA|C5orf22 INTRON|TSS-UPSTREAM SNP Somatic 12 0.580 SQHIGH 10 21 31 0 46 46 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 29102|55322 5 31529138 31529138 44 ALL relapse snv RXFP3 missense R258H NM_016568 10-PARBRK RXFP3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 1 0.181 SQHIGH 6 7 13 0 22 22 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 51289 5 33937618 33937618 30 ALL relapse snv C6 missense R600C NM_000065 10-PARBRK C6 MISSENSE SNP Somatic 13 0.642 SQHIGH 10 18 28 0 34 34 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 729 5 41159242 41159242 39 ALL relapse snv EDIL3 splice_region G23_E1splice_region NM_005711 10-PARBRK EDIL3 INTRON SNP Somatic 5 0.281 SQHIGH 6 9 15 0 30 30 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 10085 5 83680118 83680118 32 ALL relapse snv PCSK1 silent P419P NM_000439 10-PARBRK PCSK1 SYNONYMOUS SNP Somatic -7 0.085 SQHIGH 5 24 29 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 5122 5 95735830 95735830 22 ALL relapse snv ERAP2 silent S705S NM_022350 10-PARBRK ERAP2 SYNONYMOUS SNP Somatic 11 0.525 SQHIGH 7 14 21 0 36 36 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 64167 5 96244767 96244767 34 ALL relapse snv SLC4A9 missense Y752H NM_031467 10-PARBRK SLC4A9 MISSENSE SNP Somatic PFAM:PF00955:HCO3_cotransp 12 0.580 SQHIGH 20 21 41 0 85 85 Cosmic_Gene T T C T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 83697 5 139747383 139747383 115 ALL relapse snv PCDHB14 missense A501T NM_018934 10-PARBRK PCDHB14 MISSENSE SNP Somatic 2 0.202 SQHIGH 15 27 42 0 59 59 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 56122 5 140604578 140604578 65 ALL relapse snv PCDHB14 silent L503L NM_018934 10-PARBRK PCDHB14 SYNONYMOUS SNP dbsnp.134:rs146389235 Somatic -1 0.149 SQHIGH 14 37 51 1 63 64 Cosmic_Gene T T C T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 56122 5 140604584 140604584 44 ALL relapse snv PCDHGB4 missense A542T NM_003736 10-PARBRK PCDHGA8|PCDHGA3|PCDHGB3|PCDHGA4|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 1 0.181 SQHIGH 9 16 25 1 46 47 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9708|56112|56102|56111|56104|56108|8641|56113|56110|56114|56109|56103 5 140769075 140769075 37 ALL relapse snv BTNL3 missense R54W NM_197975 10-PARBRK BTNL3 MISSENSE SNP Somatic 5 0.281 SQHIGH 19 43 62 1 48 49 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 10917 5 180419923 180419923 44 ALL relapse snv GCM2 silent S487S NM_004752 10-PARBRK GCM2 SYNONYMOUS SNP Somatic 4 0.248 SQHIGH 14 54 68 0 57 57 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9247 6 10874288 10874288 40 ALL relapse snv ZNF391 missense R233H NM_001076781 10-PARBRK ZNF391 MISSENSE SNP Somatic 6 0.314 SQHIGH 18 67 85 0 62 62 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 346157 6 27368847 27368847 47 ALL relapse snv PRSS35 missense P107L NM_001170423 10-PARBRK PRSS35 MISSENSE SNP Somatic 8 0.384 SQHIGH 11 25 36 0 43 43 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 167681 6 84233480 84233480 42 ALL relapse snv STX11 missense A134T NM_003764 10-PARBRK STX11 MISSENSE SNP Somatic 10 0.472 SQHIGH 8 7 15 0 25 25 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 8676 6 144508164 144508164 41 ALL relapse snv BZW2 missense A237T NM_001159767 10-PARBRK BZW2 MISSENSE,UTR SNP Somatic -6 0.093 SQHIGH 11 41 52 0 48 48 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 28969 7 16734516 16734516 34 ALL relapse snv RAPGEF5 missense S224F NM_012294 10-PARBRK RAPGEF5 MISSENSE SNP Somatic 2 0.202 SQHIGH 13 49 62 1 48 49 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9771 7 22233059 22233059 27 ALL relapse snv ADCYAP1R1 missense R422P NM_001118 10-PARBRK ADCYAP1R1 MISSENSE SNP Somatic 2 0.202 SQHIGH 42 81 123 0 102 102 Cosmic_Gene G G C G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 117 7 31146156 31146156 127 ALL relapse snv HECW1 missense G1451S NM_015052 10-PARBRK HECW1 MISSENSE SNP Somatic 2 0.202 SQHIGH 14 52 66 0 59 59 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 23072 7 43590146 43590146 42 ALL relapse snv ABCB1 nonsense R789* NM_000927 10-PARBRK ABCB1 NONSENSE SNP Somatic PFAM:PF00664:ABC_membrane 4 0.248 SQHIGH 17 56 73 2 75 77 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 5243 7 87168616 87168616 40 ALL relapse snv SLC12A9 silent D896D NM_020246 10-PARBRK TRIP6|SLC12A9 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 9 0.427 SQHIGH 13 17 30 0 18 18 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 7205|56996 7 100464170 100464170 32 ALL relapse snv MYL10 missense A115V NM_138403 10-PARBRK MYL10 MISSENSE SNP Somatic PFAM:PF00036:efhand -5 0.101 SQHIGH 9 45 54 0 70 70 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 93408 7 101266282 101266282 34 ALL relapse snv EXOC4 missense R574Q NM_021807 10-PARBRK EXOC4 MISSENSE SNP Somatic -7 0.085 SQHIGH 6 32 38 0 24 24 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 60412 7 133502284 133502284 13 ALL relapse snv CHRM2 missense T190M NM_001006630 10-PARBRK CHRM2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -1 0.149 SQHIGH 11 41 52 0 65 65 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 1129 7 136700181 136700181 42 ALL relapse snv KIAA1549 silent A915A NM_020910 10-PARBRK KIAA1549 SYNONYMOUS SNP Somatic -5 0.101 SQHIGH 12 77 89 0 78 78 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 57670 7 138601627 138601627 34 ALL relapse snv TRPV5 splice_region V254_E6splice_region NM_019841 10-PARBRK TRPV5 INTRON SNP Somatic 5 0.281 SQHIGH 17 34 51 0 55 55 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 56302 7 142625777 142625777 61 ALL relapse snv ZNF467 silent T372T NM_207336 10-PARBRK ZNF467 SYNONYMOUS SNP Somatic 13 0.642 SQHIGH 12 21 33 0 39 39 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 168544 7 149462475 149462475 46 ALL relapse snv SSPO missense R782H NM_198455 10-PARBRK SSPO MISSENSE SNP Somatic PFAM:PF08742:C8 2 0.202 SQHIGH 11 57 68 0 51 51 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 23145 7 149480639 149480639 28 ALL relapse snv SSPO missense R1979H NM_198455 10-PARBRK SSPO MISSENSE SNP Somatic PFAM:PF00093:VWC -1 0.149 SQHIGH 14 52 66 0 56 56 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 23145 7 149490460 149490460 40 ALL relapse snv NOS3 missense R474H NM_000603 10-PARBRK NOS3 MISSENSE SNP Somatic 3 0.222 SQHIGH 22 53 75 1 60 61 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 4846 7 150698506 150698506 53 ALL relapse snv KMT2C silent N3747N NM_170606 10-PARBRK KMT2C SYNONYMOUS SNP dbsnp.134:rs145379616 Somatic 3 0.222 SQHIGH 13 39 52 0 57 57 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 58508 7 151859421 151859421 46 ALL relapse snv CSMD1 splice_region V1662_E31splice_region NM_033225 10-PARBRK CSMD1 INTRON SNP Somatic -2 0.135 SQHIGH 6 25 31 0 31 31 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 64478 8 3063016 3063016 19 ALL relapse snv SGCZ missense P115L NM_139167 10-PARBRK SGCZ MISSENSE SNP Somatic PFAM:PF04790:Sarcoglycan_1 -5 0.101 SQHIGH 6 24 30 1 48 49 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 137868 8 14095181 14095181 20 ALL relapse snv NEFM silent R196R NM_005382 10-PARBRK NEFM SYNONYMOUS,TSS-UPSTREAM SNP Somatic PFAM:PF00038:Filament 3 0.222 SQHIGH 8 17 25 0 42 42 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 4741 8 24771894 24771894 38 ALL relapse snv HGSNAT silent P283P NM_152419 10-PARBRK HGSNAT SYNONYMOUS SNP Somatic PFAM:PF07786:DUF1624 10 0.472 SQHIGH 9 21 30 0 58 58 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 138050 8 43028884 43028884 46 ALL relapse snv CLVS1 silent T286T NM_173519 10-PARBRK CLVS1 SYNONYMOUS SNP Somatic 0 0.165 SQHIGH 6 17 23 0 26 26 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 157807 8 62370982 62370982 21 ALL relapse snv CPA6 nonsense R251* NM_020361 10-PARBRK CPA6 NONSENSE SNP Somatic 2 0.202 SQHIGH 5 16 21 0 35 35 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 57094 8 68396090 68396090 23 ALL relapse snv RGS22 silent Y639Y NM_015668 10-PARBRK RGS22 SYNONYMOUS SNP Somatic 12 0.580 SQHIGH 10 9 19 0 24 24 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 26166 8 101054051 101054051 43 ALL relapse snv MPDZ missense R24H NM_003829 10-PARBRK MPDZ MISSENSE SNP Somatic PFAM:PF09045:L27_2 5 0.281 SQHIGH 8 10 18 1 28 29 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 8777 9 13247746 13247746 30 ALL relapse snv FAM189A2 missense R323Q NM_004816 10-PARBRK FAM189A2 MISSENSE SNP Somatic 15 0.778 SQHIGH 15 22 37 0 57 57 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9413 9 72003185 72003185 70 ALL relapse snv PHF2 missense R285Q NM_005392 10-PARBRK PHF2 MISSENSE SNP Somatic PFAM:PF02373:JmjC -9 0.072 SQHIGH 7 45 52 0 69 69 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 5253 9 96416759 96416759 27 ALL relapse snv CCDC180 silent D1572D NM_020893 10-PARBRK C9orf174|BDAG1 SYNONYMOUS|UTR SNP Somatic 15 0.778 SQHIGH 9 19 28 0 34 34 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 100499483|57653 9 100133972 100133972 35 ALL relapse snv TNC missense T212M NM_002160 10-PARBRK TNC MISSENSE SNP Somatic 9 0.427 SQHIGH 19 22 41 0 72 72 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 3371 9 117849375 117849375 98 ALL relapse snv ZBTB43 missense R229Q NM_014007 10-PARBRK ZBTB43 MISSENSE SNP Somatic 15 0.778 SQHIGH 15 23 38 0 55 55 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 23099 9 129595474 129595474 67 ALL relapse snv LCN8 missense V82M NM_178469 10-PARBRK LCN8 MISSENSE SNP Somatic PFAM:PF00061:Lipocalin -16 0.038 8 40 48 1 69 70 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 138307 9 139649951 139649951 25 ALL relapse snv BEND7 silent T119T NM_152751 10-PARBRK BEND7 SYNONYMOUS SNP Somatic 4 0.248 SQHIGH 8 23 31 0 31 31 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 222389 10 13538824 13538824 26 ALL relapse snv KIAA1217 missense V1443A NM_019590 10-PARBRK KIAA1217 INTRON,MISSENSE SNP Somatic -3 0.122 SQHIGH 23 94 117 0 85 85 Cosmic_Gene T T C T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 56243 10 24832527 24832527 59 ALL relapse snv RBP3 missense P871L NM_002900 10-PARBRK RBP3 MISSENSE SNP Somatic 4 0.248 SQHIGH 29 48 77 0 82 82 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 5949 10 48388266 48388266 106 ALL relapse snv OGDHL silent T701T NM_018245 10-PARBRK OGDHL SYNONYMOUS SNP Somatic PFAM:PF01855:POR_N -14 0.047 10 58 68 0 58 58 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 55753 10 50948793 50948793 28 ALL relapse snv ANK3 silent S2143S NM_020987 10-PARBRK ANK3 SYNONYMOUS,INTRON SNP Somatic -16 0.038 6 45 51 0 57 57 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 288 10 61834210 61834210 20 ALL relapse snv C10orf107 silent S48S NM_173554 10-PARBRK C10orf107 SYNONYMOUS SNP Somatic 0 0.165 SQHIGH 5 15 20 0 19 19 G G C G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 219621 10 63445872 63445872 16 ALL relapse snv SLIT1 nonsense *1535Q NM_003061 10-PARBRK SLIT1 NONSTOP SNP Somatic 3 0.222 SQHIGH 16 38 54 0 47 47 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 6585 10 98760871 98760871 49 ALL relapse snv SORCS3 silent A105A NM_014978 10-PARBRK SORCS3 SYNONYMOUS SNP Somatic -9 0.072 SQHIGH 9 10 19 0 20 20 Cosmic_Gene C C A C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 22986 10 106401400 106401400 34 ALL relapse snv SORCS3 missense A811T NM_014978 10-PARBRK SORCS3 MISSENSE SNP Somatic 5 0.281 SQHIGH 16 62 78 1 80 81 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 22986 10 106974255 106974255 43 ALL relapse snv FGFR2 nonsense R573* NM_000141 10-PARBRK FGFR2 NONSENSE SNP Somatic 4 0.248 SQHIGH 9 32 41 0 42 42 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 2263 10 123256192 123256192 30 ALL relapse snv CFAP46 missense R2181C NM_001200049 10-PARBRK CFAP46 MISSENSE SNP Somatic -3 0.122 SQHIGH 5 11 16 0 32 32 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 54777 10 134649718 134649718 26 ALL relapse snv CFAP46 splice_region G778_E18splice_region NM_001200049 10-PARBRK CFAP46 DONOR SNP Somatic -3 0.122 SQHIGH 14 43 57 0 58 58 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 100506209 10 134726546 134726546 47 ALL relapse snv CFAP46 silent D438D NM_001200049 10-PARBRK CFAP46 SYNONYMOUS SNP Somatic 4 0.248 SQHIGH 29 68 97 0 95 95 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 100506209 10 134736155 134736155 97 ALL relapse snv CFAP46 silent A188A NM_001200049 10-PARBRK CFAP46 SYNONYMOUS SNP dbsnp.134:rs142919793 Somatic 7 0.346 SQHIGH 10 27 37 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 255352 10 134751152 134751152 28 ALL relapse snv OR10Q1 silent L262L NM_001004471 10-PARBRK OR10Q1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 2 0.202 SQHIGH 10 16 26 0 41 41 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 219960 11 57995562 57995562 47 ALL relapse snv DPP3 silent L128L NM_005700 10-PARBRK DPP3 SYNONYMOUS SNP dbsnp.134:rs142633432 Somatic 5 0.281 SQHIGH 18 36 54 1 63 64 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 10072 11 66254034 66254034 58 ALL relapse snv GRIA4 missense H67R NM_000829 10-PARBRK GRIA4 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor -19 0.028 3 19 22 0 29 29 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 2893 11 105483114 105483114 11 ALL relapse snv GRIA4 silent S111S NM_000829 10-PARBRK GRIA4 SYNONYMOUS SNP Somatic PFAM:PF01094:ANF_receptor 7 0.346 SQHIGH 12 27 39 0 41 41 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 2893 11 105623792 105623792 42 ALL relapse snv CNPY2 silent P60P NM_014255 10-PARBRK CNPY2 SYNONYMOUS SNP Somatic PFAM:PF11938:DUF3456 3 0.222 SQHIGH 12 51 63 0 81 81 T T C T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 10330 12 56708659 56708659 46 ALL relapse snv CPSF6 missense R534H NM_007007 10-PARBRK CPSF6 MISSENSE SNP Somatic 10 0.472 SQHIGH 14 17 31 0 29 29 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 11052 12 69656284 69656284 48 ALL relapse snv VSIG10 silent S92S NM_019086 10-PARBRK VSIG10 SYNONYMOUS SNP Somatic PFAM:PF00047:ig -8 0.079 SQHIGH 8 39 47 0 46 46 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 54621 12 118533423 118533423 25 ALL relapse snv TMEM132B silent E400E NM_052907 10-PARBRK TMEM132B SYNONYMOUS SNP Somatic 7 0.346 SQHIGH 12 13 25 0 45 45 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 114795 12 126004093 126004093 63 ALL relapse snv RFC3 silent A334A NM_002915 10-PARBRK RFC3 SYNONYMOUS,INTRON SNP dbsnp.103:rs3135634 Somatic PFAM:PF10424:RFC-E_C -6 0.093 SQHIGH 4 20 24 0 32 32 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 5983 13 34410363 34410363 15 ALL relapse snv NBEA missense V1194I NM_015678 10-PARBRK NBEA MISSENSE SNP Somatic 14 0.711 SQHIGH 11 22 33 0 38 38 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 26960 13 35733888 35733888 41 ALL relapse snv CYSLTR2 silent T268T NM_020377 10-PARBRK CYSLTR2 SYNONYMOUS SNP Somatic 10 0.472 SQHIGH 16 24 40 0 50 50 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 57105 13 49281757 49281757 65 ALL relapse snv PCDH17 missense A580V NM_001040429 10-PARBRK PCDH17|LOC100129744 MISSENSE|TSS-UPSTREAM SNP Somatic 13 0.642 SQHIGH 20 29 49 1 109 110 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 27253|100129744 13 58208419 58208419 104 ALL relapse snv SLC15A1 splice Q645_E22splice NM_005073 10-PARBRK SLC15A1 DISRUPT SNP Somatic -1 0.149 SQHIGH 9 42 51 0 55 55 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 6564 13 99338442 99338442 30 ALL relapse snv SNX6 silent F158F NM_021249 10-PARBRK SNX6 SYNONYMOUS SNP Somatic PFAM:PF03114:BAR -7 0.085 SQHIGH 6 30 36 0 35 35 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 58533 14 35050779 35050779 19 ALL relapse snv MDGA2 missense I426T NM_001113498 10-PARBRK MDGA2 MISSENSE SNP Somatic -35 0.003 2 20 22 0 17 17 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 161357 14 47530493 47530493 5 ALL relapse snv PCNX missense G811R NM_014982 10-PARBRK PCNX MISSENSE SNP Somatic 6 0.314 SQHIGH 7 31 38 0 43 43 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 22990 14 71455403 71455403 24 ALL relapse snv ELMSAN1 silent P683P NM_194278 10-PARBRK ELMSAN1 SYNONYMOUS SNP Somatic 2 0.202 SQHIGH 21 70 91 1 79 80 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 91748 14 74196389 74196389 52 ALL relapse snv GREM1 silent L161L NM_013372 10-PARBRK GREM1 SYNONYMOUS SNP Somatic PFAM:PF00007:Cys_knot 19 0.987 SQHIGH 19 19 38 0 68 68 A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 26585 15 33023374 33023374 101 ALL relapse snv ZNF106 silent K574K NM_022473 10-PARBRK ZNF106 SYNONYMOUS SNP Somatic 10 0.472 SQHIGH 16 30 46 0 70 70 Cosmic_Gene T T C T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 64397 15 42742679 42742679 72 ALL relapse snv FOXB1 missense A161V NM_012182 10-PARBRK FOXB1 MISSENSE SNP Somatic -2 0.135 SQHIGH 8 18 26 1 43 44 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 27023 15 60297644 60297644 30 ALL relapse snv SMAD6 silent A335A NM_005585 10-PARBRK SMAD6 SYNONYMOUS,UTR SNP Somatic 11 0.525 SQHIGH 13 23 36 1 48 49 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 4091 15 67073387 67073387 45 ALL relapse snv MAP2K5 silent L2L NM_145160 10-PARBRK MAP2K5 SYNONYMOUS SNP Somatic 11 0.525 SQHIGH 11 22 33 1 47 48 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 5607 15 67835677 67835677 39 ALL relapse snv MYO9A missense R2283H NM_006901 10-PARBRK MYO9A MISSENSE SNP dbsnp.134:rs142345927 Somatic -21 0.021 6 32 38 0 48 48 COSMIC:mut:78137 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 4649 15 72122642 72122642 22 ALL relapse snv CSPG4 missense F1667L NM_001897 10-PARBRK CSPG4 MISSENSE SNP Somatic 5 0.281 SQHIGH 22 33 55 0 95 95 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 1464 15 75970179 75970179 110 ALL relapse snv C15orf27 missense A131T NM_152335 10-PARBRK C15orf27 MISSENSE SNP Somatic 5 0.281 SQHIGH 19 37 56 1 77 78 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 123591 15 76452444 76452444 70 ALL relapse snv ANKRD34C silent T267T NM_001146341 10-PARBRK ANKRD34C SYNONYMOUS SNP Somatic 7 0.346 SQHIGH 17 21 38 0 63 63 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 390616 15 79586427 79586427 84 ALL relapse snv SV2B missense T336M NM_014848 10-PARBRK SV2B MISSENSE SNP dbsnp.134:rs149291154 Somatic 1 0.181 SQHIGH 13 32 45 0 55 55 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9899 15 91803638 91803638 50 ALL relapse snv CACNA1H missense G357S NM_021098 10-PARBRK CACNA1H MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 10 0.472 SQHIGH 23 36 59 0 69 69 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 8912 16 1250521 1250521 90 ALL relapse snv INCA1 missense A211V NM_001167986 10-PARBRK INCA1|CAMTA2 MISSENSE|TSS-UPSTREAM SNP Somatic 4 0.248 SQHIGH 16 42 58 0 60 60 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 388324|23125 17 4891779 4891779 55 ALL relapse snv NLGN2 silent D399D NM_020795 10-PARBRK SPEM1|NLGN2 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF00135:COesterase PFAM:PF06342:DUF1057 7 0.346 SQHIGH 25 30 55 1 63 64 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 374768|57555 17 7318989 7318989 88 ALL relapse snv NTN1 missense G365R NM_004822 10-PARBRK NTN1 MISSENSE SNP Somatic PFAM:PF00053:Laminin_EGF 5 0.281 SQHIGH 12 35 47 0 70 70 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9423 17 9066204 9066204 52 ALL relapse snv KRT26 silent N239N NM_181539 10-PARBRK KRT26 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament 8 0.384 SQHIGH 19 25 44 0 52 52 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 353288 17 38926339 38926339 76 ALL relapse snv SLC4A1 missense R346H NM_000342 10-PARBRK SLC4A1 MISSENSE SNP Somatic 4 0.248 SQHIGH 26 47 73 0 52 52 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 6521 17 42335831 42335831 71 ALL relapse snv SOX9 missense R394Q NM_000346 10-PARBRK SOX9 MISSENSE SNP Somatic 0 0.165 SQHIGH 6 24 30 0 31 31 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 6662 17 70120179 70120179 20 ALL relapse snv CARD14 missense V31I NM_024110 10-PARBRK CARD14 MISSENSE SNP Somatic 6 0.314 SQHIGH 19 67 86 0 83 83 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 79092 17 78155328 78155328 61 ALL relapse snv DLGAP1 missense R496W NM_004746 10-PARBRK DLGAP1 MISSENSE SNP Somatic 6 0.314 SQHIGH 22 50 72 1 70 71 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9229 18 3729240 3729240 62 ALL relapse snv PIEZO2 missense V705I NM_022068 10-PARBRK PIEZO2 MISSENSE SNP Somatic -2 0.135 SQHIGH 9 56 65 0 55 55 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 63895 18 10789133 10789133 25 ALL relapse snv RTTN missense R318H NM_173630 10-PARBRK RTTN MISSENSE SNP Somatic -2 0.135 SQHIGH 5 4 9 0 12 12 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 25914 18 67860578 67860578 22 ALL relapse snv MLLT1 missense R64H NM_005934 10-PARBRK MLLT1 MISSENSE SNP Somatic PFAM:PF03366:YEATS 2 0.202 SQHIGH 12 40 52 0 73 73 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 4298 19 6270592 6270592 49 ALL relapse snv FBN3 silent H2072H NM_032447 10-PARBRK FBN3 SYNONYMOUS SNP Somatic 1 0.181 SQHIGH 12 27 39 0 73 73 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 84467 19 8154812 8154812 61 ALL relapse snv SIN3B splice_region R1017_E19splice_region NM_015260 10-PARBRK SIN3B ACCEPTOR SNP Somatic 3 0.222 SQHIGH 17 46 63 0 66 66 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 23309 19 16988986 16988986 58 ALL relapse snv CPAMD8 missense F992S NM_015692 10-PARBRK CPAMD8 MISSENSE SNP Somatic 10 0.472 SQHIGH 26 33 59 1 78 79 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 27151 19 17049216 17049216 101 ALL relapse snv CYP2A6 missense R190C NM_000762 10-PARBRK CYP2A6 MISSENSE SNP Somatic PFAM:PF00067:p450 10 0.472 SQHIGH 15 23 38 1 59 61 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 1548 19 41354210 41354210 60 ALL relapse snv IZUMO1 silent G104G NM_182575 10-PARBRK RASIP1|IZUMO1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 6 0.314 SQHIGH 21 58 79 0 108 108 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 54922|284359 19 49247795 49247795 86 ALL relapse snv PLEKHA4 splice_region K392_E11splice_region NM_020904 10-PARBRK PLEKHA4 DONOR SNP Somatic 10 0.472 SQHIGH 14 30 44 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 57664 19 49357260 49357260 54 ALL relapse snv FPR2 missense K231R NM_001462 10-PARBRK FPR2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.346 SQHIGH 13 36 49 0 82 82 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 2358 19 52272603 52272603 60 ALL relapse snv ZNF534 missense R504H NM_001143938 10-PARBRK ZNF534 MISSENSE SNP Somatic 11 0.525 SQHIGH 14 29 43 0 61 61 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 147658 19 52942224 52942224 60 ALL relapse snv RSPO4 missense R221H NM_001029871 10-PARBRK RSPO4 MISSENSE SNP Somatic 10 0.472 SQHIGH 12 32 44 1 53 54 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 343637 20 941043 941043 37 ALL relapse snv TMX4 silent V143V NM_021156 10-PARBRK TMX4 SYNONYMOUS SNP Somatic -5 0.101 SQHIGH 9 8 17 1 31 32 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 56255 20 7980417 7980417 40 ALL relapse snv NINL missense R1281W NM_025176 10-PARBRK NINL MISSENSE SNP Somatic 9 0.427 SQHIGH 11 32 43 0 62 62 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 22981 20 25439021 25439021 46 ALL relapse snv PHACTR3 missense R286Q NM_080672 10-PARBRK PHACTR3 MISSENSE SNP Somatic 4 0.248 SQHIGH 16 50 66 0 69 69 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 116154 20 58348439 58348439 54 ALL relapse snv CDH26 silent P529P NM_177980 10-PARBRK CDH26 SYNONYMOUS,TSS-UPSTREAM SNP Somatic 7 0.346 SQHIGH 19 23 42 1 65 66 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 60437 20 58569465 58569465 80 ALL relapse snv KRTAP24-1 missense T216M NM_001085455 10-PARBRK KRTAP24-1 MISSENSE SNP Somatic -9 0.072 SQHIGH 6 38 44 0 31 31 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 643803 21 31654604 31654604 15 ALL relapse snv URB1 missense E1803K NM_014825 10-PARBRK URB1 MISSENSE SNP Somatic -3 0.122 SQHIGH 10 50 60 0 49 49 C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 9875 21 33694188 33694188 28 ALL relapse snv SIM2 silent Y201Y NM_005069 10-PARBRK SIM2 SYNONYMOUS SNP Somatic 7 0.346 SQHIGH 18 55 73 0 50 50 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 6493 21 38098479 38098479 45 ALL relapse snv TSPEAR missense T250M NM_144991 10-PARBRK TSPEAR MISSENSE SNP Somatic 4 0.248 SQHIGH 20 80 100 0 66 66 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 54084 21 45949722 45949722 48 ALL relapse snv GYG2 silent S392S NM_001079855 10-PARBRK GYG2 SYNONYMOUS,INTRON SNP Somatic 5 0.281 SQHIGH 17 48 65 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 8908 X 2795273 2795273 45 ALL relapse snv SCML1 missense R146H NM_001037540 10-PARBRK SCML1 MISSENSE SNP Somatic -6 0.093 SQHIGH 10 41 51 0 33 33 COSMIC:mut:72553 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 6322 X 17768147 17768147 23 ALL relapse snv KLHL34 missense R82C NM_153270 10-PARBRK KLHL34 MISSENSE SNP Somatic PFAM:PF00651:BTB 0 0.165 SQHIGH 8 32 40 0 36 36 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 257240 X 21675663 21675663 24 ALL relapse snv NHSL2 silent S266S NM_001013627 10-PARBRK NHSL2 SYNONYMOUS SNP Somatic -2 0.135 SQHIGH 11 49 60 0 46 46 G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 340527 X 71356981 71356981 29 ALL relapse snv LOC101928335 EXON E3_exon NM_012216 10-PARBRK MID2 INTRON SNP Somatic -3 0.122 SQHIGH 8 33 41 0 21 21 Cosmic_Gene T T C T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 11043 X 107139120 107139120 15 ALL relapse snv LONRF3 silent P50P NM_001031855 10-PARBRK LONRF3 SYNONYMOUS SNP Somatic -4 0.110 SQHIGH 9 40 49 1 51 52 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 79836 X 118108893 118108893 22 ALL relapse snv SMARCA1 splice A271_E7splice NM_003069 10-PARBRK SMARCA1 DISRUPT SNP Somatic -28 0.010 2 14 16 0 19 19 Cosmic_Gene T T C T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 6594 X 128642075 128642075 7 ALL relapse snv SASH3 missense G265S NM_018990 10-PARBRK SASH3 MISSENSE SNP dbsnp.134:rs145839385 Somatic 3 0.222 SQHIGH 11 35 46 0 39 39 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 54440 X 128926804 128926804 32 ALL relapse snv GPR112 silent A443A NM_153834 10-PARBRK GPR112 SYNONYMOUS SNP Somatic 3 0.222 SQHIGH 16 50 66 1 69 70 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 139378 X 135427194 135427194 45 ALL relapse snv GPR112 silent S2528S NM_153834 10-PARBRK GPR112 SYNONYMOUS SNP Somatic -1 0.149 SQHIGH 12 40 52 0 19 19 Cosmic_Gene C C T C C TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 139378 X 135453674 135453674 18 ALL relapse snv L1CAM missense L818P NM_000425 10-PARBRK L1CAM MISSENSE SNP Somatic 5 0.281 SQHIGH 17 52 69 3 53 56 Cosmic_Gene A A G A A TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 3897 X 153131253 153131253 26 ALL relapse snv FLNA silent D1407D NM_001456 10-PARBRK FLNA SYNONYMOUS SNP Somatic PFAM:PF00630:Filamin -1 0.149 SQHIGH 16 75 91 0 74 74 Cosmic_Gene G G A G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 2316 X 153587696 153587696 44 ALL diagnosis snv MMEL1 missense A450T NM_033467 10-PARBRK MMEL1 MISSENSE SNP Somatic 18 0.945 SQHIGH 14 11 25 0 60 60 C C T C C TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 79258 1 2528053 2528053 89 ALL diagnosis snv SLAMF6 silent T70T NM_052931 10-PARBRK SLAMF6 SYNONYMOUS,INTRON SNP Somatic PFAM:PF00047:ig 6 0.337 SQHIGH 27 36 63 0 89 89 Cosmic_Gene G G A G G TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 114836 1 160466023 160466023 121 ALL diagnosis snv GPR39 silent S269S NM_001508 10-PARBRK GPR39 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 10 0.501 SQHIGH 15 16 31 1 40 41 C C T C C TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 2863 2 133175422 133175422 55 ALL diagnosis snv LYPD6B nonsense R148* NM_177964 10-PARBRK LYPD6B NONSENSE SNP Somatic PFAM:PF00021:UPAR_LY6 12 0.610 SQHIGH 14 22 36 1 51 52 C C T C C TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 130576 2 150069619 150069619 52 ALL diagnosis snv MAP2 missense D1371N NM_002374 10-PARBRK MAP2 INTRON,MISSENSE SNP Somatic PFAM:PF08377:MAP2_projctn 8 0.411 SQHIGH 14 22 36 1 43 44 Cosmic_Gene G G A G G TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 4133 2 210561005 210561005 46 ALL diagnosis snv CNTN3 missense A864S NM_020872 10-PARBRK CNTN3 MISSENSE SNP Somatic 13 0.669 SQHIGH 12 19 31 0 33 33 Cosmic_Gene C C A C C TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 5067 3 74334570 74334570 44 ALL diagnosis snv EFCC1 silent A588A NM_024768 10-PARBRK EFCC1 SYNONYMOUS SNP Somatic 5 0.296 SQHIGH 8 26 34 0 19 19 T T A T T TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 79825 3 128758658 128758658 17 ALL diagnosis snv DNAH8 missense R3177H NM_001206927 10-PARBRK DNAH8|LOC100131047 MISSENSE|INTRON SNP Somatic PFAM:PF00485:PRK -24 0.016 4 37 41 0 47 47 Cosmic_Gene G G A G G TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 1769|100131047 6 38877310 38877310 14 ALL diagnosis snv SLC12A9 silent D896D NM_020246 10-PARBRK TRIP6|SLC12A9 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 3 0.232 SQHIGH 7 6 13 0 18 18 Cosmic_Gene C C T C C TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 7205|56996 7 100464170 100464170 32 ALL diagnosis snv AGAP11 missense H11P NM_133447 10-PARBRK AGAP11 MISSENSE SNP Somatic -9 0.073 SQHIGH 15 34 49 0 22 22 A A C A A TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 119385 10 88764099 88764099 28 ALL diagnosis snv GREM1 silent L161L NM_013372 10-PARBRK GREM1 SYNONYMOUS SNP Somatic PFAM:PF00007:Cys_knot 6 0.337 SQHIGH 24 29 53 0 68 68 A A G A A TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 26585 15 33023374 33023374 102 ALL diagnosis snv C17orf104 missense R241Q NM_001145080 10-PARBRK C17orf104 MISSENSE SNP Somatic 1 0.187 SQHIGH 14 19 33 0 17 17 Cosmic_Gene G G A G G TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 284071 17 42744001 42744001 31 ALL diagnosis snv DLGAP1 missense R496W NM_004746 10-PARBRK DLGAP1 MISSENSE SNP Somatic 3 0.232 SQHIGH 32 40 72 1 70 71 Cosmic_Gene G G A G G TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 9229 18 3729240 3729240 101 ALL diagnosis snv RUVBL2 missense M113I NM_006666 10-PARBRK RUVBL2 MISSENSE SNP Somatic PFAM:PF00485:PRK PFAM:PF06068:TIP49 2 0.207 SQHIGH 15 57 72 0 85 85 G G A G G TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 10856 19 49510348 49510348 55 ALL diagnosis snv SMARCA1 missense R397H NM_003069 10-PARBRK SMARCA1 MISSENSE SNP Somatic PFAM:PF00176:SNF2_N -12 0.057 3 21 24 0 17 17 Cosmic_Gene C C T C C TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 6594 X 128633796 128633796 7 ALL diagnosis snv GPR112 silent A443A NM_153834 10-PARBRK GPR112 SYNONYMOUS SNP Somatic 4 0.258 SQHIGH 17 47 64 1 69 70 Cosmic_Gene C C T C C TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 139378 X 135427194 135427194 50 ALL diagnosis snv PRRG3 missense I100N NM_024082 10-PARBRK PRRG3 MISSENSE,UTR SNP Somatic 3 0.232 SQHIGH 18 63 81 0 65 65 Cosmic_Gene T T A T T TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 79057 X 150869108 150869108 50 ALL relapse snv TNFRSF18 silent C20C NM_004195 10-PARBVI TNFRSF18 SYNONYMOUS SNP dbsnp.134:rs144731122 Somatic -10 0.058 SQHIGH 5 7 12 0 8 8 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8784 1 1141892 1141892 13 ALL relapse snv CEP104 nonsense R299* NM_014704 10-PARBVI CEP104 NONSENSE SNP Somatic -13 0.046 8 60 68 0 64 64 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9731 1 3754080 3754080 24 ALL relapse snv PADI2 missense S404G NM_007365 10-PARBVI PADI2 MISSENSE SNP Somatic PFAM:PF03068:PAD -3 0.099 SQHIGH 9 41 50 0 42 42 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 11240 1 17405859 17405859 25 ALL relapse snv TMCO4 missense Q72R NM_181719 10-PARBVI TMCO4 MISSENSE SNP Somatic -7 0.073 SQHIGH 6 32 38 0 37 37 T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 255104 1 20097940 20097940 19 ALL relapse snv MAP3K6 silent C962C NM_004672 10-PARBVI MAP3K6 SYNONYMOUS SNP Somatic 3 0.170 SQHIGH 6 17 23 0 18 18 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9064 1 27684701 27684701 16 ALL relapse snv AHDC1 missense R385W NM_001029882 10-PARBVI AHDC1 MISSENSE SNP Somatic -4 0.091 SQHIGH 4 18 22 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 27245 1 27877474 27877474 16 ALL relapse snv GJB5 missense R115C NM_005268 10-PARBVI GJB4|GJB5 TSS-UPSTREAM|MISSENSE SNP dbsnp.134:rs142097965 Somatic 0 0.130 SQHIGH 9 36 45 1 53 54 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 127534|2709 1 35223274 35223274 25 ALL relapse snv TRABD2B missense A12T NM_001194986 10-PARBVI TRABD2B MISSENSE SNP Somatic 9 0.313 SQHIGH 8 18 26 0 20 20 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 388630 1 48462428 48462428 22 ALL relapse snv SLC1A7 silent I392I NM_006671 10-PARBVI SLC1A7 SYNONYMOUS SNP dbsnp.132:rs78880589 Somatic PFAM:PF00375:SDF 12 0.439 SQHIGH 22 18 40 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 6512 1 53556334 53556334 89 ALL relapse snv LRP8 silent S196S NM_004631 10-PARBVI LRP8 SYNONYMOUS,INTRON SNP Somatic -4 0.091 SQHIGH 5 20 25 0 24 24 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7804 1 53742659 53742659 16 ALL relapse snv DHCR24 missense V52M NM_014762 10-PARBVI DHCR24|LOC100652980 MISSENSE|TSS-UPSTREAM SNP Somatic -8 0.067 SQHIGH 4 14 18 0 22 22 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1718|100652980 1 55352639 55352639 15 ALL relapse snv JAK1 missense Y652H NM_002227 10-PARBVI JAK1 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 0 0.130 SQHIGH 9 47 56 0 62 62 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3716 1 65312365 65312365 31 ALL relapse snv GBP4 missense V302L NM_052941 10-PARBVI GBP4 MISSENSE SNP Somatic PFAM:PF02841:GBP_C 15 0.654 SQHIGH 17 21 38 0 45 45 C C G C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 115361 1 89656956 89656956 69 ALL relapse snv GBP4 missense I167N NM_052941 10-PARBVI GBP4 MISSENSE SNP Somatic 2 0.155 SQHIGH 12 45 57 0 49 49 A A T A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 115361 1 89658757 89658757 35 ALL relapse snv CDC14A splice_region R433_E14splice_region NM_003672 10-PARBVI CDC14A ACCEPTOR SNP Somatic -10 0.058 SQHIGH 9 54 63 0 55 55 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8556 1 100963634 100963634 26 ALL relapse snv CELSR2 missense Y2144H NM_001408 10-PARBVI CELSR2 MISSENSE SNP Somatic PFAM:PF12003:DUF3497 -8 0.067 SQHIGH 6 25 31 0 31 31 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1952 1 109811314 109811314 19 ALL relapse snv SLC16A1 silent G427G NM_003051 10-PARBVI SLC16A1 SYNONYMOUS SNP Somatic -6 0.079 SQHIGH 8 34 42 0 37 37 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 6566 1 113456735 113456735 23 ALL relapse snv LYSMD1 missense R215Q NM_212551 10-PARBVI TNFAIP8L2-SCNM1|LYSMD1 INTRON|MISSENSE SNP Somatic 2 0.155 SQHIGH 7 39 46 0 53 53 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 100534012|388695 1 151133398 151133398 24 ALL relapse snv LYSMD1 silent L208L NM_212551 10-PARBVI TNFAIP8L2-SCNM1|LYSMD1 INTRON|SYNONYMOUS SNP Somatic 5 0.203 SQHIGH 6 32 38 0 54 54 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 100534012|388695 1 151133418 151133418 24 ALL relapse snv SHC1 missense I232N NM_183001 10-PARBVI SHC1 MISSENSE SNP Somatic 6 0.229 SQHIGH 16 41 57 0 57 57 Cosmic_Gene A A T A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 6464 1 154941026 154941026 53 ALL relapse snv IQGAP3 silent A253A NM_178229 10-PARBVI IQGAP3 SYNONYMOUS SNP Somatic -3 0.099 SQHIGH 11 44 55 2 41 43 Cosmic_Gene G G T G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 128239 1 156532965 156532965 16 ALL relapse snv SERPINC1 missense R45W NM_000488 10-PARBVI SERPINC1 MISSENSE SNP Somatic -7 0.073 SQHIGH 9 51 60 1 52 53 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 462 1 173883966 173883966 19 ALL relapse snv RGS8 missense R58H NM_033345 10-PARBVI RGS8 MISSENSE SNP Somatic 15 0.654 SQHIGH 12 26 38 0 49 49 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 85397 1 182636016 182636016 48 ALL relapse snv SHCBP1L silent T43T NM_030933 10-PARBVI SHCBP1L SYNONYMOUS SNP Somatic 8 0.281 SQHIGH 6 17 23 0 24 24 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 81626 1 182922140 182922140 20 ALL relapse snv CDC73 silent L432L NM_024529 10-PARBVI CDC73 SYNONYMOUS SNP Somatic PFAM:PF05179:CDC73 -5 0.084 SQHIGH 8 21 29 1 22 23 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 79577 1 193202264 193202264 15 ALL relapse snv PPFIA4 missense K629R NM_015053 10-PARBVI PPFIA4 MISSENSE SNP Somatic -6 0.079 SQHIGH 4 24 28 0 38 38 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8497 1 203044715 203044715 15 ALL relapse snv CAMK1G missense R112Q NM_020439 10-PARBVI CAMK1G MISSENSE SNP dbsnp.134:rs144255822 Somatic -10 0.058 SQHIGH 7 43 50 0 38 38 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 57172 1 209778919 209778919 18 ALL relapse snv TGFB2 missense Y3C NM_001135599 10-PARBVI TGFB2 MISSENSE SNP Somatic -7 0.073 SQHIGH 7 42 49 0 38 38 A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7042 1 218520051 218520051 18 ALL relapse snv WDR26 missense A197T NM_025160 10-PARBVI LOC100506354|WDR26 TSS-UPSTREAM|INTRON,MISSENSE SNP Somatic -2 0.108 SQHIGH 4 15 19 0 22 22 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 100506354|80232 1 224619217 224619217 14 ALL relapse snv OBSCN silent R2886R NM_052843 10-PARBVI OBSCN SYNONYMOUS SNP Somatic 1 0.143 SQHIGH 7 32 39 1 46 47 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 84033 1 228470906 228470906 18 ALL relapse snv GNPAT splice R352_E8splice NM_014236 10-PARBVI GNPAT MISSENSE SNP Somatic 1 0.143 SQHIGH 9 34 43 0 36 36 Cosmic_Gene G G T G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8443 1 231402153 231402153 26 ALL relapse snv LYST silent D2041D NM_000081 10-PARBVI LYST SYNONYMOUS SNP Somatic 11 0.389 SQHIGH 7 12 19 0 23 23 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1130 1 235926150 235926150 27 ALL relapse snv NID1 silent I559I NM_002508 10-PARBVI NID1 SYNONYMOUS SNP Somatic -9 0.063 SQHIGH 6 26 32 0 41 41 Cosmic_Gene A A T A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4811 1 236192911 236192911 23 ALL relapse snv RYR2 silent F2199F NM_001035 10-PARBVI RYR2 SYNONYMOUS SNP Somatic PFAM:PF01365:RYDR_ITPR 9 0.313 SQHIGH 11 19 30 0 41 41 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 6262 1 237796919 237796919 47 ALL relapse snv KMO missense N115I NM_003679 10-PARBVI KMO MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD 13 0.498 SQHIGH 16 17 33 0 44 44 Cosmic_Gene A A T A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8564 1 241718943 241718943 71 ALL relapse snv MAP1LC3C silent T82T NM_001004343 10-PARBVI MAP1LC3C SYNONYMOUS SNP Somatic 9 0.313 SQHIGH 12 36 48 0 38 38 Cosmic_Gene C C A C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 440738 1 242159663 242159663 33 ALL relapse snv OR2T6 missense Y218C NM_001005471 10-PARBVI OR2T6 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 1 0.143 SQHIGH 10 20 30 0 27 27 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 254879 1 248551562 248551562 32 ALL relapse snv ALLC missense Q308P NM_018436 10-PARBVI DCDC2C|ALLC TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03561:Allantoicase -4 0.091 SQHIGH 29 23 52 1 42 43 Cosmic_Gene A A C A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 728597|55821 2 3749174 3749174 85 ALL relapse snv NCOA1 missense A1360T NM_003743 10-PARBVI NCOA1 MISSENSE SNP Somatic 11 0.389 SQHIGH 12 28 40 0 37 37 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8648 2 24985568 24985568 38 ALL relapse snv CAD missense Q2206R NM_004341 10-PARBVI CAD MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD -5 0.084 SQHIGH 6 27 33 0 38 38 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 790 2 27466325 27466325 21 ALL relapse snv ERLEC1 missense E168K NM_015701 10-PARBVI ERLEC1|GPR75-ASB3 MISSENSE|INTRON SNP Somatic PFAM:PF07915:PRKCSH -2 0.108 SQHIGH 15 7 22 0 22 22 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 27248|100302652 2 54026195 54026195 61 ALL relapse snv CEP68 missense R288H NM_015147 10-PARBVI CEP68 MISSENSE SNP Somatic 6 0.229 SQHIGH 22 52 74 1 66 67 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23177 2 65299093 65299093 58 ALL relapse snv REG1A missense R33W NM_002909 10-PARBVI REG1A MISSENSE SNP Somatic -3 0.099 SQHIGH 9 37 46 0 39 39 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 5967 2 79348720 79348720 26 ALL relapse snv MAP4K4 missense H151Y NM_004834 10-PARBVI MAP4K4 MISSENSE SNP Somatic PFAM:PF03109:ABC1 -1 0.120 SQHIGH 13 51 64 0 45 45 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9448 2 102445999 102445999 33 ALL relapse snv ITGB6 missense V419M NM_000888 10-PARBVI ITGB6 MISSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 2 0.155 SQHIGH 12 43 55 1 45 46 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3694 2 160994350 160994350 26 ALL relapse snv DPP4 silent G368G NM_001935 10-PARBVI DPP4 SYNONYMOUS SNP Somatic PFAM:PF00930:DPPIV_N -8 0.067 SQHIGH 6 29 35 0 33 33 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1803 2 162877163 162877163 18 ALL relapse snv SCN9A missense V401A NM_002977 10-PARBVI SCN9A MISSENSE SNP Somatic PFAM:PF00520:Ion_trans -5 0.084 SQHIGH 6 28 34 0 24 24 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 6335 2 167145059 167145059 15 ALL relapse snv SLC25A12 silent T151T NM_003705 10-PARBVI SLC25A12 SYNONYMOUS SNP Somatic -8 0.067 SQHIGH 5 15 20 0 21 21 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8604 2 172700891 172700891 17 ALL relapse snv TTN silent S11837S NM_001267550 10-PARBVI TTN INTRON SNP Somatic -4 0.091 SQHIGH 5 22 27 0 24 24 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7273 2 179534134 179534134 15 ALL relapse snv TTN missense D1786E NM_133378 10-PARBVI TTN|LOC100506892 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00047:ig 6 0.229 SQHIGH 20 55 75 0 59 59 Cosmic_Gene A A T A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7273|100506892 2 179641233 179641233 56 ALL relapse snv FSIP2 missense G70R NM_173651 10-PARBVI FSIP2 MISSENSE SNP Somatic 6 0.229 SQHIGH 20 34 54 0 50 50 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 401024 2 186603562 186603562 66 ALL relapse snv SLC40A1 silent L251L NM_014585 10-PARBVI SLC40A1 SYNONYMOUS SNP Somatic PFAM:PF06963:FPN1 11 0.389 SQHIGH 20 20 40 0 77 77 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 30061 2 190430087 190430087 111 ALL relapse snv FZD7 missense S261T NM_003507 10-PARBVI FZD7 MISSENSE SNP Somatic PFAM:PF01534:Frizzled 5 0.203 SQHIGH 8 15 23 0 22 22 Cosmic_Gene T T A T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8324 2 202900151 202900151 26 ALL relapse snv DNAJB2 silent R221R NM_001039550 10-PARBVI DNAJB2 SYNONYMOUS SNP Somatic -9 0.063 SQHIGH 5 12 17 0 19 19 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3300 2 220149397 220149397 18 ALL relapse snv TRPM8 splice_region L381_E10splice_region NM_024080 10-PARBVI TRPM8 ACCEPTOR SNP Somatic 10 0.348 SQHIGH 27 13 40 0 30 30 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 79054 2 234862556 234862556 92 ALL relapse snv COL6A3 missense A1298T NM_004369 10-PARBVI COL6A3 MISSENSE SNP Somatic -6 0.079 SQHIGH 6 38 44 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1293 2 238280768 238280768 20 ALL relapse snv IL5RA missense T167M NM_000564 10-PARBVI IL5RA MISSENSE SNP dbsnp.134:rs145111383 Somatic PFAM:PF09067:EpoR_lig-bind 2 0.155 SQHIGH 11 39 50 0 46 46 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3568 3 3139842 3139842 34 ALL relapse snv CRBN missense R242C NM_016302 10-PARBVI CRBN MISSENSE SNP Somatic PFAM:PF02190:LON -9 0.063 SQHIGH 5 25 30 0 30 30 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 51185 3 3197929 3197929 16 ALL relapse snv GADL1 silent G378G NM_207359 10-PARBVI GADL1 SYNONYMOUS SNP Somatic 3 0.170 SQHIGH 12 28 40 0 44 44 T T A T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 339896 3 30842497 30842497 43 ALL relapse snv TRIM71 missense R770W NM_001039111 10-PARBVI TRIM71 MISSENSE SNP Somatic PFAM:PF01436:NHL -9 0.063 SQHIGH 6 44 50 0 52 52 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 131405 3 32933004 32933004 19 ALL relapse snv NBEAL2 missense V1611G NM_015175 10-PARBVI NBEAL2 MISSENSE SNP Somatic 10 0.348 SQHIGH 18 28 46 1 29 30 Cosmic_Gene T T G T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23218 3 47043459 47043459 36 ALL relapse snv CELSR3 missense L1791V NM_001407 10-PARBVI CELSR3 MISSENSE SNP Somatic 1 0.143 SQHIGH 14 42 56 0 44 44 Cosmic_Gene G G C G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1951 3 48691129 48691129 39 ALL relapse snv P4HTM silent R358R NM_177938 10-PARBVI P4HTM|WDR6 SYNONYMOUS,DONOR|TSS-UPSTREAM SNP Somatic -2 0.108 SQHIGH 14 43 57 2 58 60 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 54681|11180 3 49042480 49042480 31 ALL relapse snv ZBTB20 silent T513T NM_001164342 10-PARBVI ZBTB20-AS1|ZBTB20 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -6 0.079 SQHIGH 7 39 46 0 34 34 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 100131117|26137 3 114069386 114069386 18 ALL relapse snv DNAJB8 silent F179F NM_153330 10-PARBVI DNAJB8-AS1|DNAJB8 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 4 0.185 SQHIGH 11 54 65 0 41 41 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 285224|165721 3 128181552 128181552 25 ALL relapse snv DNAJB8 missense S177W NM_153330 10-PARBVI DNAJB8-AS1|DNAJB8 TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.073 SQHIGH 8 41 49 0 27 27 G G C G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 285224|165721 3 128181559 128181559 16 ALL relapse snv FETUB missense L278V NM_014375 10-PARBVI FETUB MISSENSE SNP Somatic 12 0.439 SQHIGH 21 16 37 1 47 48 Cosmic_Gene C C G C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 26998 3 186370103 186370103 83 ALL relapse snv ATP13A4-AS1 EXON E1_exon NM_032279 10-PARBVI ATP13A4 INTRON SNP Somatic 15 0.654 SQHIGH 30 30 60 0 62 62 Cosmic_Gene C C A C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 84239 3 193272383 193272383 114 ALL relapse snv LRCH3 missense A383T NM_032773 10-PARBVI LRCH3 MISSENSE SNP Somatic -4 0.091 SQHIGH 6 15 21 0 19 19 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 84859 3 197562589 197562589 18 ALL relapse snv WDFY3 silent C478C NM_014991 10-PARBVI WDFY3 SYNONYMOUS SNP Somatic -5 0.084 SQHIGH 9 33 42 0 40 40 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23001 4 85742394 85742394 28 ALL relapse snv ATOH1 missense R183C NM_005172 10-PARBVI ATOH1 MISSENSE SNP Somatic 3 0.170 SQHIGH 10 37 47 0 30 30 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 474 4 94750624 94750624 23 ALL relapse snv DCHS2 silent L172L NM_001142552 10-PARBVI DCHS2 SYNONYMOUS SNP Somatic -8 0.067 SQHIGH 4 10 14 0 21 21 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 54798 4 155411992 155411992 17 ALL relapse snv GLRB missense A294V NM_000824 10-PARBVI GLRB MISSENSE SNP Somatic PFAM:PF02932:Neur_chan_memb -3 0.099 SQHIGH 7 22 29 0 31 31 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2743 4 158065088 158065088 24 ALL relapse snv CDH9 missense I539T NM_016279 10-PARBVI CDH9 MISSENSE SNP Somatic -8 0.067 SQHIGH 3 11 14 0 32 32 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1007 5 26886089 26886089 16 ALL relapse snv PCDHB15 missense R712W NM_018935 10-PARBVI PCDHB15 MISSENSE SNP Somatic 14 0.573 SQHIGH 12 19 31 0 26 26 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 56121 5 140627280 140627280 37 ALL relapse snv CAMK2A silent D351D NM_015981 10-PARBVI CAMK2A SYNONYMOUS SNP Somatic 0 0.130 SQHIGH 6 31 37 0 42 42 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 815 5 149618276 149618276 21 ALL relapse snv CCNG1 silent Q156Q NM_004060 10-PARBVI CCNG1 SYNONYMOUS SNP Somatic 16 0.727 SQHIGH 14 22 36 0 42 42 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 900 5 162868287 162868287 54 ALL relapse snv HRH2 missense A42T NM_001131055 10-PARBVI HRH2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -5 0.084 SQHIGH 12 27 39 0 43 43 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3274 5 175110360 175110360 43 ALL relapse snv WRNIP1 missense Y594C NM_020135 10-PARBVI WRNIP1 MISSENSE SNP Somatic PFAM:PF12002:MgsA_C 10 0.348 SQHIGH 13 34 47 0 34 34 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 56897 6 2785299 2785299 34 ALL relapse snv F13A1 missense I558N NM_000129 10-PARBVI F13A1 MISSENSE SNP Somatic PFAM:PF00927:Transglut_C -6 0.079 SQHIGH 10 46 56 0 52 52 Cosmic_Gene A A T A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2162 6 6174887 6174887 30 ALL relapse snv RREB1 missense D1409G NM_001003699 10-PARBVI RREB1 INTRON,MISSENSE SNP Somatic -4 0.091 SQHIGH 6 20 26 0 28 28 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 6239 6 7246909 7246909 20 ALL relapse snv DSP missense T2665M NM_004415 10-PARBVI DSP|SNRNP48 MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs151309106 Somatic PFAM:PF00681:Plectin 5 0.203 SQHIGH 8 24 32 0 38 38 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1832|154007 6 7585489 7585489 30 ALL relapse snv GFOD1 missense C221Y NM_018988 10-PARBVI GFOD1 MISSENSE SNP Somatic 4 0.185 SQHIGH 12 27 39 1 30 31 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 54438 6 13365486 13365486 26 ALL relapse snv NHLRC1 missense A324T NM_198586 10-PARBVI NHLRC1 MISSENSE SNP Somatic -7 0.073 SQHIGH 7 36 43 0 48 48 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 378884 6 18121868 18121868 24 ALL relapse snv PRRC2A silent T2093T NM_080686 10-PARBVI PRRC2A SYNONYMOUS SNP Somatic 10 0.348 SQHIGH 8 21 29 0 21 21 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7916 6 31605047 31605047 21 ALL relapse snv C2-AS1 EXON E9_exon NM_000063 10-PARBVI CFB|C2 TSS-UPSTREAM|INTRON SNP Somatic -2 0.108 SQHIGH 12 64 76 0 69 69 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 629|717 6 31909275 31909275 36 ALL relapse snv STK38 nonsense W306* NM_007271 10-PARBVI STK38 NONSENSE SNP Somatic -10 0.058 SQHIGH 6 48 54 0 35 35 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 11329 6 36467684 36467684 14 ALL relapse snv MOCS1 silent G171G NM_005943 10-PARBVI MOCS1 SYNONYMOUS,UTR SNP Somatic 14 0.573 SQHIGH 12 20 32 0 36 36 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4337 6 39883882 39883882 45 ALL relapse snv RWDD2A missense R90Q NM_033411 10-PARBVI RWDD2A|PGM3 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF05773:RWD 0 0.130 SQHIGH 6 23 29 0 31 31 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 112611|5238 6 83905381 83905381 20 ALL relapse snv LAMA2 missense R499C NM_000426 10-PARBVI LAMA2 MISSENSE SNP dbsnp.134:rs143626559 Somatic PFAM:PF00053:Laminin_EGF -3 0.099 SQHIGH 6 32 38 0 26 26 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3908 6 129511377 129511377 14 ALL relapse snv SYNE1 silent A1299A NM_182961 10-PARBVI SYNE1 SYNONYMOUS SNP Somatic 1 0.143 SQHIGH 8 19 27 0 19 19 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23345 6 152763321 152763321 21 ALL relapse snv THBS2 silent T1046T NM_003247 10-PARBVI THBS2 SYNONYMOUS SNP Somatic PFAM:PF05735:TSP_C 3 0.170 SQHIGH 9 32 41 0 44 44 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7058 6 169622427 169622427 31 ALL relapse snv ABCB5 silent A986A NM_001163941 10-PARBVI ABCB5 SYNONYMOUS SNP Somatic 14 0.573 SQHIGH 16 6 22 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 340273 7 20778696 20778696 85 ALL relapse snv ABCB4 missense K32E NM_000443 10-PARBVI ABCB4 MISSENSE SNP Somatic -4 0.091 SQHIGH 8 23 31 0 43 43 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 5244 7 87101978 87101978 33 ALL relapse snv AKAP9 silent G1293G NM_005751 10-PARBVI AKAP9 SYNONYMOUS SNP Somatic -5 0.084 SQHIGH 7 18 25 0 17 17 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 10142 7 91651593 91651593 17 ALL relapse snv NPTX2 missense R103H NM_002523 10-PARBVI NPTX2 MISSENSE SNP Somatic -7 0.073 SQHIGH 5 12 17 0 16 16 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4885 7 98247081 98247081 16 ALL relapse snv TSC22D4 missense S310G NM_030935 10-PARBVI TSC22D4 MISSENSE SNP Somatic -10 0.058 SQHIGH 8 51 59 1 50 51 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 81628 7 100071898 100071898 16 ALL relapse snv PCOLCE splice E155_E3splice NM_002593 10-PARBVI PCOLCE|LOC100129845 DISRUPT|TSS-UPSTREAM SNP Somatic -6 0.079 SQHIGH 22 92 114 0 81 81 T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 5118|100129845 7 100201842 100201842 55 ALL relapse snv LHFPL3-AS2 EXON E2_exon NM_199000 10-PARBVI LOC723809|LHFPL3 UTR|INTRON SNP Somatic 5 0.203 SQHIGH 18 74 92 1 44 45 T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 723809|375612 7 104535548 104535548 25 ALL relapse snv AGBL3 nonsense L58* NM_178563 10-PARBVI AGBL3 NONSENSE SNP Somatic 10 0.348 SQHIGH 16 25 41 0 22 22 T T G T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 340351 7 134678292 134678292 36 ALL relapse snv NOS3 missense G743D NM_000603 10-PARBVI NOS3 MISSENSE SNP Somatic 2 0.155 SQHIGH 10 21 31 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4846 7 150706133 150706133 32 ALL relapse snv DPP6 missense A230V NM_001290253 10-PARBVI DPP6 INTRON SNP Somatic -1 0.120 SQHIGH 11 51 62 1 56 57 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1804 7 154379421 154379421 25 ALL relapse snv DMTN missense E255G NM_001978 10-PARBVI DMTN MISSENSE SNP Somatic -3 0.099 SQHIGH 8 34 42 0 39 39 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2039 8 21931275 21931275 24 ALL relapse snv UNC5D silent G2G NM_080872 10-PARBVI UNC5D SYNONYMOUS SNP Somatic -8 0.067 SQHIGH 7 36 43 0 27 27 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 137970 8 35093308 35093308 16 ALL relapse snv DCAF4L2 missense N313Y NM_152418 10-PARBVI DCAF4L2 MISSENSE SNP Somatic PFAM:PF00400:WD40 -2 0.108 SQHIGH 11 47 58 0 43 43 Cosmic_Gene T T A T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 138009 8 88885263 88885263 28 ALL relapse snv PLEKHF2 missense D209G NM_024613 10-PARBVI PLEKHF2 MISSENSE SNP Somatic 7 0.254 SQHIGH 9 15 24 0 22 22 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 79666 8 96166898 96166898 29 ALL relapse snv ASAP1 missense A429V NM_018482 10-PARBVI ASAP1 MISSENSE SNP Somatic 10 0.348 SQHIGH 11 21 32 0 34 34 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 50807 8 131140268 131140268 39 ALL relapse snv DENND3 silent G651G NM_014957 10-PARBVI DENND3 SYNONYMOUS SNP Somatic -5 0.084 SQHIGH 8 36 44 0 34 34 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 22898 8 142178542 142178542 21 ALL relapse snv LY6K missense A19T NM_017527 10-PARBVI LY6K MISSENSE SNP Somatic -1 0.120 SQHIGH 5 18 23 0 26 26 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 54742 8 143782000 143782000 18 ALL relapse snv PLEC silent Y4249Y NM_000445 10-PARBVI PLEC SYNONYMOUS SNP Somatic -2 0.108 SQHIGH 6 22 28 1 38 39 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 5339 8 144991323 144991323 17 ALL relapse snv PLEC silent L3902L NM_000445 10-PARBVI PLEC SYNONYMOUS SNP Somatic 5 0.203 SQHIGH 9 18 27 0 18 18 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 5339 8 144992366 144992366 23 ALL relapse snv KANK1 silent T949T NM_015158 10-PARBVI KANK1 SYNONYMOUS SNP dbsnp.132:rs114869733 Somatic -1 0.120 SQHIGH 6 27 33 0 34 34 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23189 9 730199 730199 20 ALL relapse snv TOPORS missense R699S NM_005802 10-PARBVI TOPORS MISSENSE SNP Somatic 4 0.185 SQHIGH 18 49 67 0 44 44 Cosmic_Gene T T A T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 10210 9 32542426 32542426 44 ALL relapse snv ALDH1A1 silent A66A NM_000689 10-PARBVI ALDH1A1 SYNONYMOUS SNP Somatic PFAM:PF00171:Aldedh -1 0.120 SQHIGH 6 23 29 1 42 43 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 216 9 75545909 75545909 18 ALL relapse snv TDRD7 missense R756W NM_014290 10-PARBVI TDRD7 MISSENSE SNP Somatic PFAM:PF00567:TUDOR -1 0.120 SQHIGH 7 15 22 0 15 15 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23424 9 100240820 100240820 18 ALL relapse snv SVEP1 silent R2037R NM_153366 10-PARBVI SVEP1 SYNONYMOUS SNP Somatic PFAM:PF00084:Sushi 2 0.155 SQHIGH 8 27 35 0 38 38 Cosmic_Gene C C A C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 79987 9 113173880 113173880 28 ALL relapse snv MRPS2 missense D114N NM_016034 10-PARBVI MRPS2|C9orf116 MISSENSE|TSS-UPSTREAM SNP Somatic -2 0.108 SQHIGH 8 42 50 0 35 35 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 51116|138162 9 138395428 138395428 20 ALL relapse snv FUT7 missense I47N NM_004479 10-PARBVI ABCA2|C9orf139|FUT7 TSS-UPSTREAM|INTRON|MISSENSE SNP Somatic PFAM:PF00852:Glyco_transf_10 4 0.185 SQHIGH 11 30 41 0 32 32 A A T A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 20|401563|2529 9 139926051 139926051 31 ALL relapse snv ERCC6 missense R1404H NM_000124 10-PARBVI ERCC6 MISSENSE SNP Somatic 18 0.888 SQHIGH 12 15 27 1 26 27 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2074 10 50667132 50667132 34 ALL relapse snv CTNNA3 splice_region R659_E14splice_region NM_013266 10-PARBVI CTNNA3 DONOR SNP Somatic 6 0.229 SQHIGH 13 42 55 1 56 57 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 29119 10 67862909 67862909 34 ALL relapse snv KAT6B missense M1734R NM_012330 10-PARBVI KAT6B MISSENSE SNP Somatic -6 0.079 SQHIGH 7 21 28 0 25 25 T T G T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23522 10 76789783 76789783 21 ALL relapse snv DLG5 missense H1832Y NM_004747 10-PARBVI DLG5 MISSENSE SNP Somatic PFAM:PF00485:PRK 3 0.170 SQHIGH 15 56 71 0 77 77 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9231 10 79554659 79554659 52 ALL relapse snv GRID1 missense G506R NM_017551 10-PARBVI GRID1 MISSENSE SNP Somatic -9 0.063 SQHIGH 12 72 84 0 55 55 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2894 10 87487629 87487629 28 ALL relapse snv LIPM missense L19P NM_001128215 10-PARBVI LIPM MISSENSE SNP Somatic -2 0.108 SQHIGH 6 27 33 0 62 62 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 340654 10 90562709 90562709 29 ALL relapse snv CYP2C8 missense G365S NM_000770 10-PARBVI CYP2C8 MISSENSE SNP dbsnp.131:rs77147096 Somatic PFAM:PF00067:p450 -3 0.099 SQHIGH 6 24 30 0 39 39 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1558 10 96802703 96802703 23 ALL relapse snv ABCC2 silent A1119A NM_000392 10-PARBVI ABCC2 SYNONYMOUS SNP Somatic PFAM:PF00664:ABC_membrane -5 0.084 SQHIGH 11 43 54 0 54 54 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1244 10 101594235 101594235 36 ALL relapse snv ERLIN1 missense R171C NM_006459 10-PARBVI ERLIN1 MISSENSE SNP Somatic PFAM:PF01145:Band_7 3 0.170 SQHIGH 8 24 32 1 43 44 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 10613 10 101927157 101927157 25 ALL relapse snv POLL missense E529K NM_013274 10-PARBVI POLL MISSENSE,UTR SNP Somatic -3 0.099 SQHIGH 5 23 28 0 30 30 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 27343 10 103339353 103339353 17 ALL relapse snv NEURL1-AS1 EXON E1_exon NM_004210 10-PARBVI NEURL INTRON SNP Somatic 13 0.498 SQHIGH 9 20 29 0 23 23 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9148 10 105254346 105254346 26 ALL relapse snv ABLIM1 missense H119L NM_002313 10-PARBVI ABLIM1 MISSENSE SNP Somatic 15 0.654 SQHIGH 33 23 56 0 50 50 Cosmic_Gene T T A T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3983 10 116361609 116361609 120 ALL relapse snv MUC5B missense T4893M NM_002458 10-PARBVI MUC5B MISSENSE SNP Somatic -4 0.091 SQHIGH 6 36 42 1 50 51 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 727897 11 1272788 1272788 15 ALL relapse snv CARS silent S55S NM_001014437 10-PARBVI CARS SYNONYMOUS,INTRON,UTR SNP Somatic -3 0.099 SQHIGH 10 30 40 0 34 34 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 833 11 3069092 3069092 29 ALL relapse snv KIAA1549L silent A1188A NM_012194 10-PARBVI KIAA1549L SYNONYMOUS SNP Somatic PFAM:PF12877:DUF3827 -4 0.091 SQHIGH 6 39 45 0 40 40 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 25758 11 33604936 33604936 17 ALL relapse snv SLC1A2 missense V267A NM_004171 10-PARBVI SLC1A2 MISSENSE SNP Somatic PFAM:PF00375:SDF 5 0.203 SQHIGH 16 37 53 0 48 48 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 6506 11 35323123 35323123 50 ALL relapse snv GDPD5 missense P367T NM_030792 10-PARBVI GDPD5 MISSENSE SNP Somatic 3 0.170 SQHIGH 7 24 31 0 28 28 Cosmic_Gene G G T G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 81544 11 75153476 75153476 21 ALL relapse snv GDPD4 missense R492Q NM_182833 10-PARBVI GDPD4 MISSENSE SNP Somatic -8 0.067 SQHIGH 5 32 37 0 40 40 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 220032 11 76938959 76938959 17 ALL relapse snv USP35 missense R605C NM_020798 10-PARBVI USP35 MISSENSE SNP Somatic 8 0.281 SQHIGH 14 33 47 0 31 31 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 57558 11 77920714 77920714 35 ALL relapse snv GRM5-AS1 EXON E9_exon NM_001143831 10-PARBVI GRM5 UTR3 SNP Somatic -9 0.063 SQHIGH 6 32 38 0 55 55 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2915 11 88238853 88238853 24 ALL relapse snv TRIM77 missense C415Y NM_001146162 10-PARBVI TRIM77 MISSENSE SNP Somatic PFAM:PF00622:SPRY 7 0.254 SQHIGH 22 36 58 0 55 55 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 390231 11 89450931 89450931 74 ALL relapse snv DIXDC1 splice_region R563_E16splice_region NM_001037954 10-PARBVI DIXDC1 DONOR SNP Somatic 17 0.841 SQHIGH 20 20 40 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 85458 11 111866294 111866294 94 ALL relapse snv POU2F3 missense T286A NM_014352 10-PARBVI POU2F3 MISSENSE SNP Somatic 5 0.203 SQHIGH 18 34 52 0 50 50 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 25833 11 120178274 120178274 60 ALL relapse snv TECTA silent C499C NM_005422 10-PARBVI TECTA SYNONYMOUS SNP Somatic 3 0.170 SQHIGH 9 28 37 0 36 36 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7007 11 120996304 120996304 29 ALL relapse snv FGF23 silent L210L NM_020638 10-PARBVI FGF23 SYNONYMOUS SNP Somatic -2 0.108 SQHIGH 6 35 41 0 30 30 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8074 12 4479635 4479635 15 ALL relapse snv FGF23 missense S205F NM_020638 10-PARBVI FGF23 MISSENSE SNP Somatic -4 0.091 SQHIGH 7 47 54 0 36 36 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8074 12 4479651 4479651 16 ALL relapse snv FGF23 silent F98F NM_020638 10-PARBVI FGF23 SYNONYMOUS SNP Somatic -10 0.058 SQHIGH 8 48 56 0 49 49 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8074 12 4481781 4481781 23 ALL relapse snv AKAP3 missense P632L NM_006422 10-PARBVI AKAP3 MISSENSE SNP Somatic PFAM:PF05716:AKAP_110 -17 0.029 6 34 40 0 51 51 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 10566 12 4736173 4736173 22 ALL relapse snv ACSM4 nonsense R136* NM_001080454 10-PARBVI ACSM4 NONSENSE SNP Somatic PFAM:PF04443:LuxE 0 0.130 SQHIGH 11 48 59 0 51 51 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 341392 12 7459333 7459333 32 ALL relapse snv A2ML1 silent V1242V NM_144670 10-PARBVI A2ML1 SYNONYMOUS SNP Somatic PFAM:PF07678:A2M_comp 0 0.130 SQHIGH 9 51 60 0 68 68 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 144568 12 9020446 9020446 31 ALL relapse snv GRIN2B missense R1158Q NM_000834 10-PARBVI GRIN2B MISSENSE SNP dbsnp.134:rs143955920 Somatic PFAM:PF10565:NMDAR2_C 2 0.155 SQHIGH 11 44 55 0 37 37 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2904 12 13716699 13716699 27 ALL relapse snv KMT2D missense Y2023H NM_003482 10-PARBVI KMT2D MISSENSE SNP Somatic PFAM:PF00505:HMG_box -2 0.108 SQHIGH 11 69 80 0 55 55 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8085 12 49435914 49435914 26 ALL relapse snv RACGAP1 missense A561T NM_013277 10-PARBVI RACGAP1 MISSENSE SNP Somatic -6 0.079 SQHIGH 7 33 40 0 29 29 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 29127 12 50385814 50385814 18 ALL relapse snv KRT1 missense Y295H NM_006121 10-PARBVI KRT1 MISSENSE SNP Somatic PFAM:PF00038:Filament 6 0.229 SQHIGH 16 44 60 0 51 51 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3848 12 53071514 53071514 47 ALL relapse snv CS missense T64N NM_004077 10-PARBVI CS MISSENSE SNP Somatic 14 0.573 SQHIGH 12 20 32 0 28 28 G G T G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1431 12 56679710 56679710 38 ALL relapse snv SDR9C7 silent A88A NM_148897 10-PARBVI SDR9C7 SYNONYMOUS SNP Somatic 1 0.143 SQHIGH 10 31 41 0 29 29 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 121214 12 57327782 57327782 25 ALL relapse snv OAS3 missense R195H NM_006187 10-PARBVI OAS3 MISSENSE SNP Somatic PFAM:PF10421:OAS1_C -3 0.099 SQHIGH 9 44 53 0 52 52 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4940 12 113382404 113382404 28 ALL relapse snv MIR4498 EXON E29_exon NM_006836 10-PARBVI MIR4498|GCN1L1 UTR|ACCEPTOR SNP Somatic -3 0.099 SQHIGH 9 42 51 0 50 50 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 100616179|10985 12 120593244 120593244 28 ALL relapse snv TMEM120B missense R266W NM_001080825 10-PARBVI TMEM120B MISSENSE SNP Somatic PFAM:PF07851:TMPIT 2 0.155 SQHIGH 16 48 64 0 46 46 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 144404 12 122212587 122212587 42 ALL relapse snv PITPNM2 missense F456C NM_020845 10-PARBVI PITPNM2 MISSENSE SNP Somatic -9 0.063 SQHIGH 6 49 55 0 62 62 Cosmic_Gene A A C A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 57605 12 123481977 123481977 20 ALL relapse snv CRYL1 missense A2V NM_015974 10-PARBVI CRYL1 MISSENSE SNP Somatic 8 0.281 SQHIGH 10 11 21 0 16 16 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 51084 13 21099929 21099929 30 ALL relapse snv IL17D silent Y160Y NM_138284 10-PARBVI IL17D SYNONYMOUS SNP Somatic PFAM:PF06083:IL17 -4 0.091 SQHIGH 6 25 31 0 22 22 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 53342 13 21295964 21295964 15 ALL relapse snv ATP12A missense T280A NM_001676 10-PARBVI ATP12A MISSENSE SNP Somatic PFAM:PF00122:E1-E2_ATPase 4 0.185 SQHIGH 14 51 65 1 54 55 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 479 13 25265158 25265158 31 ALL relapse snv CENPJ missense A654T NM_018451 10-PARBVI CENPJ MISSENSE SNP dbsnp.134:rs140927921 Somatic -6 0.079 SQHIGH 7 34 41 0 57 57 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 55835 13 25480216 25480216 28 ALL relapse snv FLT3 missense V592A NM_004119 10-PARBVI FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 17 0.841 SQHIGH 20 25 45 0 40 40 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2322 13 28608281 28608281 66 ALL relapse snv SLITRK1 silent G308G NM_052910 10-PARBVI SLITRK1 SYNONYMOUS SNP Somatic 1 0.143 SQHIGH 11 40 51 0 48 48 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 114798 13 84454719 84454719 34 ALL relapse snv TEP1 splice R1237_E25splice NM_007110 10-PARBVI TEP1 MISSENSE SNP dbsnp.134:rs138928722 Somatic PFAM:PF00485:PRK 1 0.143 SQHIGH 12 36 48 2 40 42 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7011 14 20851902 20851902 21 ALL relapse snv DHRS2 silent C212C NM_182908 10-PARBVI DHRS2 SYNONYMOUS SNP Somatic PFAM:PF00670:AdoHcyase_NAD 0 0.130 SQHIGH 8 43 51 1 64 65 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 10202 14 24113713 24113713 22 ALL relapse snv REC8 splice_region E287_E12splice_region NM_005132 10-PARBVI REC8 INTRON SNP Somatic -6 0.079 SQHIGH 5 34 39 0 57 57 A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9985 14 24646971 24646971 20 ALL relapse snv DHRS1 missense L308R NM_001136050 10-PARBVI DHRS1 MISSENSE SNP Somatic -6 0.079 SQHIGH 9 59 68 0 54 54 A A C A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 115817 14 24760084 24760084 24 ALL relapse snv LTB4R silent T4T NM_181657 10-PARBVI LTB4R|CIDEB SYNONYMOUS|TSS-UPSTREAM SNP Somatic -10 0.058 SQHIGH 5 46 51 0 46 46 A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1241|27141 14 24784869 24784869 14 ALL relapse snv FOXA1 missense G84S NM_004496 10-PARBVI FOXA1 MISSENSE SNP Somatic PFAM:PF08430:Fork_head_N -6 0.079 SQHIGH 4 10 14 0 16 16 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3169 14 38061739 38061739 14 ALL relapse snv MIA2 silent T558T NM_054024 10-PARBVI MIA2 SYNONYMOUS SNP Somatic -10 0.058 SQHIGH 5 13 18 0 17 17 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 117153 14 39722058 39722058 16 ALL relapse snv SLC24A4 missense G479R NM_153646 10-PARBVI SLC24A4 MISSENSE SNP Somatic PFAM:PF01699:Na_Ca_ex 8 0.281 SQHIGH 27 28 55 0 49 49 Cosmic_Gene G G C G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 123041 14 92953022 92953022 92 ALL relapse snv AHNAK2 missense V3427G NM_138420 10-PARBVI AHNAK2 MISSENSE SNP Somatic 3 0.170 SQHIGH 12 33 45 1 59 60 Cosmic_Gene A A C A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 113146 14 105411508 105411508 39 ALL relapse snv GANC missense D389N NM_198141 10-PARBVI GANC MISSENSE SNP Somatic 10 0.348 SQHIGH 13 35 48 0 46 46 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2595 15 42614090 42614090 42 ALL relapse snv MAP1A missense S2664I NM_002373 10-PARBVI MAP1A MISSENSE SNP Somatic -3 0.099 SQHIGH 6 20 26 0 27 27 Cosmic_Gene G G T G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4130 15 43821662 43821662 20 ALL relapse snv MYO1E missense R627H NM_004998 10-PARBVI MYO1E MISSENSE SNP Somatic -1 0.120 SQHIGH 11 36 47 0 39 39 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4643 15 59480341 59480341 31 ALL relapse snv NPTN-IT1 EXON E5_exon NM_017455 10-PARBVI NPTN INTRON SNP Somatic 0 0.130 SQHIGH 10 35 45 1 56 57 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 27020 15 73859891 73859891 30 ALL relapse snv EDC3 missense K426R NM_001142443 10-PARBVI EDC3 MISSENSE SNP Somatic PFAM:PF03853:YjeF_N -4 0.091 SQHIGH 7 45 52 0 47 47 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 80153 15 74925203 74925203 20 ALL relapse snv PEAK1 missense P371S NM_024776 10-PARBVI PEAK1 MISSENSE SNP Somatic -9 0.063 SQHIGH 7 34 41 0 40 40 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 79834 15 77473158 77473158 22 ALL relapse snv WHAMM missense G809S NM_001080435 10-PARBVI WHAMM MISSENSE SNP Somatic 16 0.727 SQHIGH 14 23 37 1 55 56 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 123720 15 83502283 83502283 53 ALL relapse snv E4F1 missense A15T NM_004424 10-PARBVI E4F1 MISSENSE SNP Somatic -2 0.108 SQHIGH 6 16 22 0 26 26 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1877 16 2273657 2273657 22 ALL relapse snv GLIS2 silent I14I NM_032575 10-PARBVI GLIS2 SYNONYMOUS SNP Somatic 4 0.185 SQHIGH 15 55 70 0 48 48 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 84662 16 4382323 4382323 37 ALL relapse snv DCUN1D3 missense A105V NM_173475 10-PARBVI DCUN1D3 MISSENSE SNP Somatic -5 0.084 SQHIGH 7 43 50 0 49 49 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 123879 16 20873547 20873547 22 ALL relapse snv PHKB missense R783C NM_000293 10-PARBVI PHKB INTRON,MISSENSE SNP dbsnp.134:rs143421326 Somatic PFAM:PF00723:Glyco_hydro_15 -5 0.084 SQHIGH 6 11 17 0 18 18 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 5257 16 47698806 47698806 21 ALL relapse snv LRRC36 missense D479G NM_018296 10-PARBVI LRRC36 MISSENSE SNP Somatic 7 0.254 SQHIGH 17 46 63 1 65 66 A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 55282 16 67405087 67405087 48 ALL relapse snv RLTPR silent G1059G NM_001013838 10-PARBVI RLTPR SYNONYMOUS SNP Somatic 5 0.203 SQHIGH 7 22 29 0 31 31 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 146206 16 67688108 67688108 24 ALL relapse snv CHST4 missense R95W NM_005769 10-PARBVI CHST4 MISSENSE SNP Somatic 9 0.313 SQHIGH 13 35 48 0 50 50 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 10164 16 71570863 71570863 44 ALL relapse snv MBTPS1 silent V735V NM_003791 10-PARBVI MBTPS1 SYNONYMOUS SNP Somatic 2 0.155 SQHIGH 9 40 49 1 48 49 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8720 16 84101295 84101295 21 ALL relapse snv ANKRD11 missense N916S NM_013275 10-PARBVI ANKRD11 MISSENSE SNP Somatic 0 0.130 SQHIGH 13 56 69 1 77 78 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 29123 16 89350203 89350203 36 ALL relapse snv CAMKK1 silent I54I NM_032294 10-PARBVI CAMKK1 SYNONYMOUS SNP Somatic -7 0.073 SQHIGH 6 43 49 0 59 59 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 84254 17 3788820 3788820 21 ALL relapse snv NUP88 missense A229V NM_002532 10-PARBVI NUP88 MISSENSE SNP Somatic PFAM:PF10168:Nup88 13 0.498 SQHIGH 10 22 32 0 47 47 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4927 17 5312224 5312224 43 ALL relapse snv TP53 missense R248Q NM_000546 10-PARBVI TP53 MISSENSE SNP dbsnp.120:rs11540652 Somatic -10 0.058 SQHIGH 6 40 46 0 34 34 COSMIC:mut:10662,COSMIC:mut:99020,COSMIC:mut:99021,COSMIC:mut:99602 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7157 17 7577538 7577538 15 ALL relapse snv CHD3 missense E519G NM_001005273 10-PARBVI CHD3 MISSENSE SNP Somatic 8 0.281 SQHIGH 21 54 75 0 68 68 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1107 17 7798709 7798709 66 ALL relapse snv FLII silent K1162K NM_002018 10-PARBVI FLII SYNONYMOUS SNP Somatic -6 0.079 SQHIGH 10 53 63 0 47 47 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2314 17 18149075 18149075 26 ALL relapse snv RAB34 silent C258C NM_031934 10-PARBVI PROCA1|RAB34 TSS-UPSTREAM|SYNONYMOUS,INTRON,UTR SNP Somatic -4 0.091 SQHIGH 7 39 46 0 45 45 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 147011|83871 17 27041667 27041667 22 ALL relapse snv NARR silent V128V NM_001256281 10-PARBVI SNORD42B|RPL23A|RAB34 TSS-UPSTREAM|TSS-UPSTREAM|INTRON,UTR5,UTR SNP Somatic -10 0.058 SQHIGH 6 25 31 0 27 27 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 26808|6147|83871 17 27044343 27044343 17 ALL relapse snv NKIRAS2 missense Q95R NM_001001349 10-PARBVI NKIRAS2|DNAJC7 INTRON,MISSENSE|TSS-UPSTREAM SNP Somatic 3 0.170 SQHIGH 16 42 58 1 48 49 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 28511|7266 17 40174606 40174606 38 ALL relapse snv ADAM11 missense D443N NM_002390 10-PARBVI ADAM11 MISSENSE SNP Somatic -2 0.108 SQHIGH 7 23 30 0 27 27 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4185 17 42852768 42852768 21 ALL relapse snv ADAM11 missense G450S NM_002390 10-PARBVI ADAM11 MISSENSE SNP Somatic -1 0.120 SQHIGH 4 16 20 0 22 22 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4185 17 42852789 42852789 14 ALL relapse snv CD79B missense L107F NM_000626 10-PARBVI CD79B INTRON,MISSENSE SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set -6 0.079 SQHIGH 8 53 61 0 49 49 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 974 17 62007545 62007545 21 ALL relapse snv HID1 splice_region K384_E10splice_region NM_030630 10-PARBVI HID1 ACCEPTOR SNP Somatic -3 0.099 SQHIGH 8 16 24 0 15 15 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 283987 17 72954868 72954868 19 ALL relapse snv MGAT5B missense A692T NM_144677 10-PARBVI MGAT5B MISSENSE SNP Somatic -1 0.120 SQHIGH 5 18 23 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 146664 17 74944068 74944068 19 ALL relapse snv LAMA1 missense S2042N NM_005559 10-PARBVI LAMA1 MISSENSE SNP Somatic PFAM:PF06009:Laminin_II 11 0.389 SQHIGH 14 32 46 0 29 29 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 284217 18 6978260 6978260 34 ALL relapse snv LAMA1 missense T1930M NM_005559 10-PARBVI LAMA1 MISSENSE SNP dbsnp.134:rs142286229 Somatic 11 0.389 SQHIGH 21 19 40 1 32 33 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 284217 18 6983105 6983105 58 ALL relapse snv LAMA3 splice_region V2339_E54splice_region NM_198129 10-PARBVI LAMA3 INTRON SNP Somatic 15 0.654 SQHIGH 33 21 54 1 45 46 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3909 18 21487909 21487909 104 ALL relapse snv RNF152 missense R55H NM_173557 10-PARBVI RNF152 MISSENSE SNP Somatic -4 0.091 SQHIGH 5 24 29 0 40 40 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 220441 18 59483533 59483533 20 ALL relapse snv DSEL missense R581H NM_032160 10-PARBVI DSEL|LOC643542 MISSENSE|TSS-UPSTREAM SNP Somatic 2 0.155 SQHIGH 11 45 56 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 92126|643542 18 65180134 65180134 31 ALL relapse snv ABCA7 silent G65G NM_019112 10-PARBVI ABCA7 SYNONYMOUS SNP Somatic -2 0.108 SQHIGH 9 24 33 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 10347 19 1041864 1041864 37 ALL relapse snv KDM4B missense V1079A NM_015015 10-PARBVI KDM4B MISSENSE SNP Somatic 7 0.254 SQHIGH 9 29 38 0 44 44 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23030 19 5151467 5151467 33 ALL relapse snv ZNRF4 missense D363V NM_181710 10-PARBVI ZNRF4 MISSENSE SNP Somatic 1 0.143 SQHIGH 5 20 25 0 28 28 Cosmic_Gene A A T A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 148066 19 5456590 5456590 17 ALL relapse snv DENND1C missense R376Q NM_024898 10-PARBVI DENND1C MISSENSE SNP Somatic PFAM:PF03455:dDENN -6 0.079 SQHIGH 6 32 38 0 33 33 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 79958 19 6472931 6472931 17 ALL relapse snv C3 missense A1122V NM_000064 10-PARBVI C3 MISSENSE SNP Somatic PFAM:PF07678:A2M_comp -10 0.058 SQHIGH 8 51 59 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 718 19 6692960 6692960 23 ALL relapse snv C3 missense P933L NM_000064 10-PARBVI C3 MISSENSE SNP Somatic 12 0.439 SQHIGH 19 30 49 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 718 19 6696669 6696669 62 ALL relapse snv TYK2 missense S210G NM_003331 10-PARBVI TYK2 MISSENSE SNP Somatic -9 0.063 SQHIGH 7 28 35 0 27 27 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7297 19 10477094 10477094 19 ALL relapse snv KRI1 silent T228T NM_023008 10-PARBVI KRI1 SYNONYMOUS SNP Somatic -6 0.079 SQHIGH 9 37 46 0 55 55 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 65095 19 10671122 10671122 33 ALL relapse snv KANK2 silent A469A NM_015493 10-PARBVI KANK2 SYNONYMOUS SNP Somatic -1 0.120 SQHIGH 5 17 22 0 20 20 G G C G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 25959 19 11289239 11289239 15 ALL relapse snv ZNF429 missense T631N NM_001001415 10-PARBVI ZNF429 MISSENSE SNP Somatic -5 0.084 SQHIGH 6 35 41 0 36 36 Cosmic_Gene C C A C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 353088 19 21720747 21720747 17 ALL relapse snv ATP4A splice_region R623_E12splice_region NM_000704 10-PARBVI ATP4A DONOR SNP Somatic 2 0.155 SQHIGH 16 39 55 0 41 41 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 495 19 36047810 36047810 43 ALL relapse snv LRFN3 missense V551A NM_024509 10-PARBVI LRFN3 MISSENSE SNP Somatic 5 0.203 SQHIGH 13 45 58 2 65 67 T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 79414 19 36435686 36435686 31 ALL relapse snv SRRM5 missense S131R NM_001145641 10-PARBVI SRRM5|ZNF428 MISSENSE|INTRON SNP Somatic -4 0.091 SQHIGH 10 19 29 1 27 28 C C A C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 100170229|126299 19 44116666 44116666 25 ALL relapse snv DMWD silent A413A NM_004943 10-PARBVI DMWD|DMPK SYNONYMOUS|TSS-UPSTREAM SNP Somatic -7 0.073 SQHIGH 15 14 29 0 16 16 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1762|1760 19 46289515 46289515 36 ALL relapse snv STRN4 splice_region D532_E13splice_region NM_013403 10-PARBVI STRN4 ACCEPTOR SNP Somatic -2 0.108 SQHIGH 9 36 45 0 30 30 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 29888 19 47226545 47226545 22 ALL relapse snv NPAS1 missense T365I NM_002517 10-PARBVI NPAS1 MISSENSE SNP Somatic -6 0.079 SQHIGH 6 37 43 0 38 38 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4861 19 47544260 47544260 17 ALL relapse snv EMC10 missense A25T NM_175063 10-PARBVI FAM71E1|C19orf63 UTR5|MISSENSE SNP Somatic -9 0.063 SQHIGH 4 15 19 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 112703|284361 19 50979874 50979874 17 ALL relapse snv VSIG10L missense V138I NM_001163922 10-PARBVI VSIG10L MISSENSE SNP Somatic -6 0.079 SQHIGH 8 37 45 0 42 42 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 147645 19 51844890 51844890 24 ALL relapse snv ZNF587B silent A11A NM_001204818 10-PARBVI LOC100293516|FKBP1AP1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -10 0.058 SQHIGH 6 41 47 0 36 36 T T A T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 100293516|2282 19 58341929 58341929 15 ALL relapse snv ZSCAN22 missense Q491K NM_181846 10-PARBVI ZSCAN22 MISSENSE SNP Somatic -5 0.084 SQHIGH 9 25 34 0 37 37 Cosmic_Gene C C A C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 342945 19 58850687 58850687 32 ALL relapse snv A1BG missense R447H NM_130786 10-PARBVI A1BG|A1BG-AS1 MISSENSE|TSS-UPSTREAM SNP Somatic -3 0.099 SQHIGH 7 21 28 0 21 21 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1|503538 19 58858859 58858859 19 ALL relapse snv RSPO4 silent R53R NM_001029871 10-PARBVI RSPO4 SYNONYMOUS SNP Somatic 5 0.203 SQHIGH 7 20 27 0 20 20 C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 343637 20 948702 948702 19 ALL relapse snv ISM1 missense L72V NM_080826 10-PARBVI ISM1 MISSENSE SNP Somatic 14 0.573 SQHIGH 30 27 57 0 50 50 C C G C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 140862 20 13251226 13251226 104 ALL relapse snv RALGAPA2 missense R1065C NM_020343 10-PARBVI RALGAPA2 MISSENSE SNP Somatic -1 0.120 SQHIGH 9 35 44 0 56 56 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 57186 20 20527440 20527440 34 ALL relapse snv XRN2 missense R925H NM_012255 10-PARBVI XRN2 MISSENSE SNP Somatic -6 0.079 SQHIGH 7 43 50 0 42 42 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 22803 20 21367631 21367631 19 ALL relapse snv CST7 silent T117T NM_003650 10-PARBVI CST7 SYNONYMOUS SNP Somatic -3 0.099 SQHIGH 7 38 45 0 35 35 Cosmic_Gene C C A C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8530 20 24939671 24939671 18 ALL relapse snv CBFA2T2 missense G281R NM_005093 10-PARBVI CBFA2T2 MISSENSE SNP Somatic -6 0.079 SQHIGH 5 35 40 0 39 39 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9139 20 32212691 32212691 15 ALL relapse snv RALGAPB missense L1319R NM_020336 10-PARBVI RALGAPB MISSENSE SNP Somatic 7 0.254 SQHIGH 10 20 30 0 36 36 Cosmic_Gene T T G T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 57148 20 37198532 37198532 38 ALL relapse snv DHX35 missense R404H NM_021931 10-PARBVI DHX35 MISSENSE,UTR SNP Somatic -6 0.079 SQHIGH 8 53 61 0 66 66 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 60625 20 37634988 37634988 27 ALL relapse snv MATN4 silent E51E NM_003833 10-PARBVI RBPJL|MATN4 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF04811:Sec23_trunk -3 0.099 SQHIGH 10 24 34 0 32 32 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 11317|8785 20 43933358 43933358 32 ALL relapse snv SALL4 nonsense R431* NM_020436 10-PARBVI SALL4 NONSENSE SNP Somatic 4 0.185 SQHIGH 11 34 45 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 57167 20 50407731 50407731 28 ALL relapse snv ZFP64 silent A491A NM_199427 10-PARBVI ZFP64 SYNONYMOUS SNP Somatic -8 0.067 SQHIGH 6 32 38 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 55734 20 50701561 50701561 15 ALL relapse snv APCDD1L silent P438P NM_153360 10-PARBVI APCDD1L SYNONYMOUS SNP Somatic -10 0.058 SQHIGH 8 51 59 1 57 58 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 164284 20 57036038 57036038 18 ALL relapse snv GNAS silent G238G NM_016592 10-PARBVI GNAS|GNAS-AS1 SYNONYMOUS|INTRON SNP Somatic PFAM:PF06390:NESP55 -4 0.091 SQHIGH 7 41 48 0 55 55 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 2778|149775 20 57415875 57415875 24 ALL relapse snv CYYR1 silent Y51Y NM_052954 10-PARBVI CYYR1 SYNONYMOUS SNP Somatic PFAM:PF10873:DUF2668 2 0.155 SQHIGH 5 18 23 0 23 23 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 116159 21 27938608 27938608 16 ALL relapse snv DOPEY2 missense D1978N NM_005128 10-PARBVI DOPEY2 MISSENSE SNP Somatic PFAM:PF04118:Dopey_N -10 0.058 SQHIGH 8 44 52 0 52 52 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9980 21 37650616 37650616 25 ALL relapse snv ADARB1 silent V143V NM_001112 10-PARBVI ADARB1 SYNONYMOUS,INTRON,UTR SNP Somatic 0 0.130 SQHIGH 12 51 63 0 54 54 Cosmic_Gene T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 104 21 46596045 46596045 35 ALL relapse snv COL6A2 silent D906D NM_058174 10-PARBVI COL6A2 UTR3,SYNONYMOUS,INTRON SNP Somatic 4 0.185 SQHIGH 11 24 35 0 27 27 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 1292 21 47549366 47549366 31 ALL relapse snv MICAL3 silent A1755A NM_015241 10-PARBVI MICAL3 SYNONYMOUS SNP Somatic 8 0.281 SQHIGH 17 22 39 0 26 26 G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 57553 22 18300162 18300162 46 ALL relapse snv AP1B1 splice S599_E13splice NM_001127 10-PARBVI AP1B1 DISRUPT SNP Somatic 14 0.573 SQHIGH 10 18 28 0 38 38 Cosmic_Gene C C G C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 162 22 29737489 29737489 42 ALL relapse snv APOL4 splice G12_E4splice NM_030643 10-PARBVI APOL4 DISRUPT SNP Somatic -6 0.079 SQHIGH 10 43 53 0 51 51 T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 80832 22 36595424 36595424 31 ALL relapse snv ZC3H7B silent D510D NM_017590 10-PARBVI ZC3H7B SYNONYMOUS SNP Somatic -6 0.079 SQHIGH 7 35 42 0 51 51 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23264 22 41742077 41742077 25 ALL relapse snv ARHGAP8 silent Y182Y NM_001017526 10-PARBVI PRR5-ARHGAP8|ARHGAP8 SYNONYMOUS|SYNONYMOUS SNP Somatic 2 0.155 SQHIGH 20 13 33 0 35 35 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 553158|23779 22 45218317 45218317 82 ALL relapse snv CELSR1 missense F2149S NM_014246 10-PARBVI CELSR1 MISSENSE SNP Somatic PFAM:PF12003:DUF3497 9 0.313 SQHIGH 11 32 43 0 29 29 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9620 22 46785296 46785296 27 ALL relapse snv CELSR1 missense A386T NM_014246 10-PARBVI CELSR1 MISSENSE SNP Somatic -3 0.099 SQHIGH 6 21 27 1 34 35 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9620 22 46931912 46931912 16 ALL relapse snv SHROOM2 missense G1141R NM_001649 10-PARBVI SHROOM2 MISSENSE SNP Somatic 2 0.155 SQHIGH 14 33 47 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 357 X 9900744 9900744 45 ALL relapse snv ZRSR2 silent K12K NM_005089 10-PARBVI INE2|ZRSR2 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -2 0.108 SQHIGH 7 26 33 0 29 29 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8551|8233 X 15808654 15808654 21 ALL relapse snv CTPS2 silent F163F NM_019857 10-PARBVI CTPS2 SYNONYMOUS SNP Somatic -6 0.079 SQHIGH 7 36 43 0 33 33 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 56474 X 16711560 16711560 18 ALL relapse snv PCYT1B missense N20S NM_004845 10-PARBVI PCYT1B INTRON,MISSENSE SNP Somatic 10 0.348 SQHIGH 23 19 42 0 30 30 T T C T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9468 X 24665164 24665164 69 ALL relapse snv BCOR missense R188W NM_017745 10-PARBVI BCOR MISSENSE SNP Somatic 13 0.498 SQHIGH 15 31 46 0 35 35 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 54880 X 39934037 39934037 42 ALL relapse snv KDM6A missense N680S NM_021140 10-PARBVI KDM6A MISSENSE SNP Somatic PFAM:PF09606:Med15 -2 0.108 SQHIGH 12 18 30 0 37 37 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 7403 X 44928939 44928939 48 ALL relapse snv HEPH missense A377D NM_138737 10-PARBVI HEPH MISSENSE SNP Somatic PFAM:PF00116:COX2 -9 0.063 SQHIGH 5 26 31 0 32 32 Cosmic_Gene C C A C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 9843 X 65409685 65409685 16 ALL relapse snv FAM155B missense R353C NM_015686 10-PARBVI FAM155B MISSENSE SNP Somatic 12 0.439 SQHIGH 36 30 66 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 27112 X 68749437 68749437 107 ALL relapse snv SATL1 silent S110S NM_001012980 10-PARBVI SATL1 SYNONYMOUS SNP Somatic -2 0.108 SQHIGH 10 59 69 0 49 49 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 340562 X 84363645 84363645 25 ALL relapse snv CPXCR1 silent S220S NM_033048 10-PARBVI CPXCR1 SYNONYMOUS SNP Somatic 17 0.841 SQHIGH 9 15 24 0 40 40 Cosmic_Gene A A G A A TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 53336 X 88009075 88009075 43 ALL relapse snv PCDH19 silent R612R NM_001105243 10-PARBVI PCDH19 SYNONYMOUS SNP Somatic 1 0.143 SQHIGH 12 47 59 2 51 53 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 57526 X 99661760 99661760 21 ALL relapse snv NXF5 missense V340M NM_032946 10-PARBVI NXF5 MISSENSE,UTR SNP Somatic -10 0.058 SQHIGH 6 44 50 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 55998 X 101092528 101092528 18 ALL relapse snv PRRG3 silent C103C NM_024082 10-PARBVI PRRG3 SYNONYMOUS,UTR SNP Somatic 0 0.130 SQHIGH 9 40 49 0 51 51 Cosmic_Gene C C T C C TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 79057 X 150869118 150869118 30 ALL relapse snv HCFC1 missense P1078L NM_005334 10-PARBVI HCFC1 MISSENSE SNP Somatic 0 0.130 SQHIGH 9 21 30 1 23 24 Cosmic_Gene G G A G G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 3054 X 153220617 153220617 18 ALL relapse complex TBXAS1 frameshift V23_L25fs NM_001061 10-PARBVI TBXAS1 INTRON,FRAMESHIFT,UTR Sub Somatic -6 0.336 SQHIGH 25 54 79 0 65 65 Cosmic_Gene TGGCTCT TGGCTCT TTCCC TGGCTCT TGGCTCT TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 6916 7 139529254 139529260 74 ALL relapse complex LEMD3 frameshift H434_T435fs NM_014319 10-PARBVI LEMD3 FRAMESHIFT Sub Somatic -3 0.436 SQHIGH 22 28 50 0 49 49 Cosmic_Gene CATA CATA CC CATA CATA TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 23592 12 65564676 65564679 78 ALL diagnosis snv RIMKLA splice_region G55_E2splice_region NM_173642 10-PARBVI RIMKLA ACCEPTOR SNP Somatic 6 0.206 SQHIGH 19 34 53 0 29 29 G G T G G TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 284716 1 42865071 42865071 42 ALL diagnosis snv SLC1A7 silent I392I NM_006671 10-PARBVI SLC1A7 SYNONYMOUS SNP dbsnp.132:rs78880589 Somatic PFAM:PF00375:SDF 12 0.411 SQHIGH 19 9 28 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 6512 1 53556334 53556334 102 ALL diagnosis snv PSMB4 nonsense R196* NM_002796 10-PARBVI PSMB4 NONSENSE SNP Somatic 5 0.182 SQHIGH 10 18 28 0 20 20 Cosmic_Gene C C T C C TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 5692 1 151373724 151373724 27 ALL diagnosis snv FSIP2 missense T3804M NM_173651 10-PARBVI FSIP2 MISSENSE SNP Somatic -7 0.064 SQHIGH 9 47 56 0 45 45 C C T C C TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 401024 2 186665177 186665177 24 ALL diagnosis snv TRPM8 splice_region L381_E10splice_region NM_024080 10-PARBVI TRPM8 ACCEPTOR SNP Somatic 10 0.320 SQHIGH 15 19 34 0 30 30 Cosmic_Gene G G A G G TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 79054 2 234862556 234862556 49 ALL diagnosis snv DZIP1L missense Q370H NM_173543 10-PARBVI DZIP1L MISSENSE SNP Somatic 10 0.320 SQHIGH 12 35 47 0 32 32 Cosmic_Gene C C A C C TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 199221 3 137803048 137803048 30 ALL diagnosis snv IL7R missense S185C NM_002185 10-PARBVI IL7R MISSENSE SNP Somatic PFAM:PF00041:fn3 15 0.627 SQHIGH 11 25 36 0 39 39 Cosmic_Gene A A T A A TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 3575 5 35873597 35873597 39 ALL diagnosis snv CCNG1 silent Q156Q NM_004060 10-PARBVI CCNG1 SYNONYMOUS SNP Somatic 16 0.705 SQHIGH 23 20 43 0 42 42 Cosmic_Gene A A G A A TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 900 5 162868287 162868287 86 ALL diagnosis snv FOXP2 missense Q134K NM_014491 10-PARBVI FOXP2 MISSENSE,UTR SNP Somatic 17 0.831 SQHIGH 13 26 39 0 36 36 Cosmic_Gene C C A C C TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 93986 7 114269863 114269863 42 ALL diagnosis snv PPFIA1 missense A401V NM_177423 10-PARBVI PPFIA1 MISSENSE SNP Somatic -9 0.054 SQHIGH 5 36 41 0 45 45 Cosmic_Gene C C T C C TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 8500 11 70178190 70178190 17 ALL diagnosis snv TRIM77 missense C415Y NM_001146162 10-PARBVI TRIM77 MISSENSE SNP Somatic PFAM:PF00622:SPRY 17 0.831 SQHIGH 21 22 43 0 55 55 G G A G G TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 390231 11 89450931 89450931 91 ALL diagnosis snv FAM69C missense E144A NM_001044369 10-PARBVI LOC100505838|FAM69C INTRON|MISSENSE SNP Somatic 11 0.360 SQHIGH 10 35 45 0 59 59 T T G T T TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 100505838|125704 18 72114286 72114286 39 ALL diagnosis snv CYYR1 silent Y51Y NM_052954 10-PARBVI CYYR1 SYNONYMOUS SNP Somatic PFAM:PF10873:DUF2668 11 0.360 SQHIGH 15 29 44 0 23 23 G G A G G TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 116159 21 27938608 27938608 32 ALL diagnosis snv SGSM1 splice_region G387_E12splice_region NM_001039948 10-PARBVI SGSM1 ACCEPTOR SNP Somatic 1 0.127 SQHIGH 11 45 56 0 48 48 Cosmic_Gene T T A T T TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 129049 22 25264681 25264681 32 ALL diagnosis complex LEMD3 frameshift H434_T435fs NM_014319 10-PARBVI LEMD3 FRAMESHIFT Sub Somatic -3 0.419 SQHIGH 22 34 56 0 49 49 Cosmic_Gene CATA CATA CC CATA CATA TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 23592 12 65564676 65564679 71 ALL diagnosis mnv FAM69C missense A145G NM_001044369 10-PARBVI LOC100505838|FAM69C INTRON|MISSENSE Sub Somatic -4 0.375 SQHIGH 12 33 45 0 58 58 GG GG TC GG GG TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 100505838|125704 18 72114282 72114283 47 ALL diagnosis snv PGM1 missense P35Q NM_001172818 10-PARCHB PGM1 INTRON,MISSENSE SNP Somatic 6 0.184 SQHIGH 15 44 59 0 88 88 Cosmic_Gene C C A C C TARGET-10-PARCHB-03A-01D TARGET-10-PARCHB-10A-01D 5236 1 64089235 64089235 65 ALL diagnosis snv VWDE missense Y505S NM_001135924 10-PARCHB VWDE MISSENSE SNP Somatic PFAM:PF00094:VWD 11 0.332 SQHIGH 17 28 45 0 33 33 T T G T T TARGET-10-PARCHB-03A-01D TARGET-10-PARCHB-10A-01D 221806 7 12412676 12412676 48 ALL diagnosis snv TRUB1 silent S308S NM_139169 10-PARCHB TRUB1 SYNONYMOUS SNP Somatic -4 0.069 SQHIGH 5 24 29 0 27 27 A A G A A TARGET-10-PARCHB-03A-01D TARGET-10-PARCHB-10A-01D 142940 10 116735012 116735012 15 ALL diagnosis snv FAN1 splice R648_E6splice NM_014967 10-PARCHB FAN1 DISRUPT SNP Somatic -10 0.043 SQHIGH 5 22 27 0 23 23 T T C T T TARGET-10-PARCHB-03A-01D TARGET-10-PARCHB-10A-01D 22909 15 31210500 31210500 14 ALL diagnosis snv CHD9 silent A2673A NM_025134 10-PARCHB CHD9 SYNONYMOUS SNP Somatic -10 0.043 SQHIGH 3 12 15 0 26 26 Cosmic_Gene T T G T T TARGET-10-PARCHB-03A-01D TARGET-10-PARCHB-10A-01D 80205 16 53358180 53358180 14 ALL diagnosis snv ARHGEF2 missense R954H NM_001162383 10-PARDWE ARHGEF2 MISSENSE SNP Somatic -2 0.075 SQHIGH 11 49 60 1 51 52 Cosmic_Gene C C T C C TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 9181 1 155920116 155920116 24 ALL diagnosis snv MAP3K2 missense T283A NM_006609 10-PARDWE MAP3K2 MISSENSE SNP Somatic 1 0.100 SQHIGH 10 12 22 0 28 28 Cosmic_Gene T T C T T TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 10746 2 128079820 128079820 42 ALL diagnosis snv ZDHHC11 missense R365C NM_024786 10-PARDWE ZDHHC11 MISSENSE SNP Somatic 20 0.996 SQHIGH 15 22 37 0 43 43 Cosmic_Gene G G A G G TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 79844 5 819693 819693 59 ALL diagnosis snv UBE2D2 splice P40_E3splice NM_003339 10-PARDWE UBE2D2 DISRUPT SNP Somatic 16 0.737 SQHIGH 16 22 38 1 29 30 Cosmic_Gene T T C T T TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 7322 5 138994204 138994204 38 ALL diagnosis snv ZNF804B silent S893S NM_181646 10-PARDWE ZNF804B SYNONYMOUS SNP Somatic 4 0.137 SQHIGH 10 34 44 0 61 61 Cosmic_Gene C C T C C TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 219578 7 88964975 88964975 41 ALL diagnosis snv ANK1 missense V344M NM_020476 10-PARDWE ANK1 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 6 0.181 SQHIGH 20 30 50 0 63 63 Cosmic_Gene C C T C C TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 286 8 41577256 41577256 82 ALL diagnosis snv GRHL2 missense R430Q NM_024915 10-PARDWE GRHL2 MISSENSE SNP Somatic PFAM:PF04516:CP2 15 0.666 SQHIGH 44 44 88 2 68 70 Cosmic_Gene G G A G G TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 79977 8 102643896 102643896 114 ALL diagnosis snv JAK2 missense D873N NM_004972 10-PARDWE JAK2 MISSENSE SNP Somatic 16 0.737 SQHIGH 17 16 33 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 3717 9 5089719 5089719 62 ALL diagnosis snv ANK3 splice_region G1058_E27splice_region NM_020987 10-PARDWE ANK3 INTRON SNP Somatic 7 0.208 SQHIGH 30 49 79 0 61 61 Cosmic_Gene A A G A A TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 288 10 61868579 61868579 88 ALL diagnosis snv NCAPD3 missense S1207Y NM_015261 10-PARDWE NCAPD3 MISSENSE SNP Somatic 14 0.546 SQHIGH 28 22 50 0 49 49 Cosmic_Gene G G T G G TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 23310 11 134031740 134031740 106 ALL diagnosis snv KRT1 missense G579S NM_006121 10-PARDWE KRT1 MISSENSE SNP Somatic -8 0.047 SQHIGH 12 51 63 2 61 63 Cosmic_Gene C C T C C TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 3848 12 53069177 53069177 24 ALL diagnosis snv TBX3 nonsense R131* NM_005996 10-PARDWE TBX3 NONSENSE SNP Somatic 7 0.208 SQHIGH 21 29 50 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 6926 12 115118950 115118950 68 ALL diagnosis snv ARMC5 silent A368A NM_001105247 10-PARDWE ARMC5 SYNONYMOUS SNP Somatic 3 0.122 SQHIGH 9 41 50 0 34 34 Cosmic_Gene T T G T T TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 79798 16 31473972 31473972 22 ALL diagnosis snv MYOM1 missense R616C NM_003803 10-PARDWE MYOM1 MISSENSE SNP Somatic 3 0.122 SQHIGH 10 41 51 0 67 67 Cosmic_Gene G G A G G TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 8736 18 3149197 3149197 39 ALL diagnosis snv ARHGAP28 missense V341A NM_001010000 10-PARDWE ARHGAP28 MISSENSE SNP Somatic 7 0.208 SQHIGH 21 42 63 0 67 67 Cosmic_Gene T T C T T TARGET-10-PARDWE-03A-01D TARGET-10-PARDWE-14A-01D 79822 18 6887201 6887201 75 ALL relapse snv SLC1A7 missense V300M NM_006671 10-PARDWE SLC1A7 MISSENSE SNP dbsnp.134:rs143355775 Somatic PFAM:PF00375:SDF -7 0.053 SQHIGH 9 70 79 0 67 67 Cosmic_Gene C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 6512 1 53558359 53558359 25 ALL relapse snv DPH5 missense S171F NM_001077394 10-PARDWE DPH5 MISSENSE SNP Somatic PFAM:PF00590:TP_methylase 12 0.412 SQHIGH 21 24 45 1 50 51 G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 51611 1 101460684 101460684 71 ALL relapse snv APOB missense R778C NM_000384 10-PARDWE APOB MISSENSE SNP Somatic PFAM:PF09172:DUF1943 -10 0.042 SQHIGH 7 62 69 0 64 64 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 338 2 21247909 21247909 21 ALL relapse snv MSH6 nonsense R482* NM_000179 10-PARDWE MSH6 NONSENSE SNP dbsnp.130:rs63750909 Somatic PFAM:PF01624:MutS_I 0 0.094 SQHIGH 10 51 61 1 63 64 Cosmic_Gene C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 2956 2 48026566 48026566 25 ALL relapse snv SMEK2 missense R628Q NM_001122964 10-PARDWE SMEK2 MISSENSE SNP Somatic 1 0.104 SQHIGH 5 9 14 0 15 15 Cosmic_Gene C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 57223 2 55795382 55795382 18 ALL relapse snv DYSF silent N902N NM_001130987 10-PARDWE DYSF SYNONYMOUS SNP Somatic 5 0.162 SQHIGH 29 44 73 1 51 52 Cosmic_Gene C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 8291 2 71795310 71795310 68 ALL relapse snv MAP3K2 missense T283A NM_006609 10-PARDWE MAP3K2 MISSENSE SNP Somatic 1 0.104 SQHIGH 16 14 30 0 28 28 Cosmic_Gene T T C T T TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 10746 2 128079820 128079820 57 ALL relapse snv HOXD12 missense R254H NM_021193 10-PARDWE HOXD12 MISSENSE SNP Somatic 3 0.129 SQHIGH 12 60 72 0 69 69 G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 3238 2 176965436 176965436 37 ALL relapse snv HOXD3 missense R198H NM_006898 10-PARDWE HOXD3 MISSENSE SNP Somatic -2 0.078 SQHIGH 5 27 32 1 54 55 G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 3232 2 177036296 177036296 16 ALL relapse snv LRPAP1 missense L111F NM_002337 10-PARDWE LRPAP1 MISSENSE SNP Somatic PFAM:PF06400:Alpha-2-MRAP_N 7 0.222 SQHIGH 22 31 53 1 50 51 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 4043 4 3526652 3526652 65 ALL relapse snv ZDHHC11 missense R365C NM_024786 10-PARDWE ZDHHC11 MISSENSE SNP Somatic 18 0.907 SQHIGH 37 29 66 0 43 43 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 79844 5 819693 819693 106 ALL relapse snv MIER3 missense E266K NM_152622 10-PARDWE MIER3 MISSENSE SNP Somatic 11 0.361 SQHIGH 12 30 42 0 33 33 C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 166968 5 56226524 56226524 34 ALL relapse snv UBE2D2 splice P40_E3splice NM_003339 10-PARDWE UBE2D2 DISRUPT SNP Somatic 18 0.907 SQHIGH 14 13 27 1 29 30 Cosmic_Gene T T C T T TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 7322 5 138994204 138994204 46 ALL relapse snv FAT2 missense A1952V NM_001447 10-PARDWE FAT2 MISSENSE SNP Somatic 12 0.412 SQHIGH 23 29 52 0 45 45 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 2196 5 150924833 150924833 75 ALL relapse snv DSP missense R232H NM_004415 10-PARDWE DSP MISSENSE SNP Somatic 8 0.249 SQHIGH 27 35 62 0 55 55 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 1832 6 7562982 7562982 89 ALL relapse snv ZKSCAN8 missense R473P NM_006298 10-PARDWE ZKSCAN8 MISSENSE SNP Somatic 6 0.193 SQHIGH 22 50 72 0 68 68 G G C G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 7745 6 28121476 28121476 72 ALL relapse snv DOPEY1 missense R1864H NM_015018 10-PARDWE DOPEY1 MISSENSE SNP Somatic 11 0.361 SQHIGH 17 27 44 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 23033 6 83855292 83855292 44 ALL relapse snv ZNF804B silent S893S NM_181646 10-PARDWE ZNF804B SYNONYMOUS SNP Somatic 15 0.669 SQHIGH 48 27 75 0 61 61 Cosmic_Gene C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 219578 7 88964975 88964975 169 ALL relapse snv MET missense R739C NM_001127500 10-PARDWE MET MISSENSE SNP dbsnp.127:rs45587940 Somatic 1 0.104 SQHIGH 9 36 45 0 41 41 Cosmic_Gene C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 4233 7 116398625 116398625 27 ALL relapse snv PLXNA4 missense D232H NM_020911 10-PARDWE PLXNA4 MISSENSE SNP Somatic PFAM:PF01403:Sema 9 0.280 SQHIGH 44 20 64 1 45 46 Cosmic_Gene C C G C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 91584 7 132192759 132192759 132 ALL relapse snv ANK1 missense V344M NM_020476 10-PARDWE ANK1 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 3 0.129 SQHIGH 13 42 55 0 63 63 Cosmic_Gene C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 286 8 41577256 41577256 47 ALL relapse snv GRHL2 missense R430Q NM_024915 10-PARDWE GRHL2 MISSENSE SNP Somatic PFAM:PF04516:CP2 1 0.104 SQHIGH 26 97 123 2 68 70 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 79977 8 102643896 102643896 37 ALL relapse snv JAK2 missense D873N NM_004972 10-PARDWE JAK2 MISSENSE SNP Somatic 15 0.669 SQHIGH 16 22 38 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 3717 9 5089719 5089719 50 ALL relapse snv ANK3 splice_region G1058_E27splice_region NM_020987 10-PARDWE ANK3 INTRON SNP Somatic 11 0.361 SQHIGH 35 37 72 0 61 61 Cosmic_Gene A A G A A TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 288 10 61868579 61868579 115 ALL relapse snv TMEM26 missense V271M NM_178505 10-PARDWE TMEM26 MISSENSE SNP Somatic PFAM:PF09772:Tmem26 -26 0.008 4 59 63 0 88 88 C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 219623 10 63170376 63170376 15 ALL relapse snv NKX2-3 silent P237P NM_145285 10-PARDWE NKX2-3 SYNONYMOUS SNP Somatic 0 0.094 SQHIGH 4 10 14 0 15 15 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 159296 10 101295094 101295094 14 ALL relapse snv NT5C2 missense S445F NM_012229 10-PARDWE NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 10 0.317 SQHIGH 17 32 49 0 46 46 G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 22978 10 104850483 104850483 56 ALL relapse snv HTRA1 missense T472I NM_002775 10-PARDWE HTRA1 MISSENSE SNP Somatic 7 0.222 SQHIGH 20 46 66 0 60 60 C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 5654 10 124273847 124273847 63 ALL relapse snv TENM4 missense R2160G NM_001098816 10-PARDWE TENM4 MISSENSE SNP Somatic 8 0.249 SQHIGH 19 58 77 0 64 64 Cosmic_Gene G G C G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 26011 11 78380912 78380912 55 ALL relapse snv PDGFD nonsense R129* NM_025208 10-PARDWE PDGFD NONSENSE SNP Somatic -8 0.049 SQHIGH 6 37 43 0 52 52 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 80310 11 103866918 103866918 22 ALL relapse snv NCAPD3 missense S1207Y NM_015261 10-PARDWE NCAPD3 MISSENSE SNP Somatic 9 0.280 SQHIGH 21 30 51 0 49 49 Cosmic_Gene G G T G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 23310 11 134031740 134031740 73 ALL relapse snv KRT1 missense G579S NM_006121 10-PARDWE KRT1 MISSENSE SNP Somatic 17 0.865 SQHIGH 30 19 49 2 61 63 Cosmic_Gene C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 3848 12 53069177 53069177 114 ALL relapse snv TBX3 nonsense R131* NM_005996 10-PARDWE TBX3 NONSENSE SNP Somatic 14 0.549 SQHIGH 19 16 35 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 6926 12 115118950 115118950 83 ALL relapse snv SALL2 missense S156L NM_005407 10-PARDWE SALL2 MISSENSE SNP dbsnp.134:rs139202834 Somatic -1 0.085 SQHIGH 11 54 65 0 58 58 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 6297 14 21993395 21993395 32 ALL relapse snv BTBD7 missense G832A NM_001002860 10-PARDWE BTBD7 MISSENSE SNP Somatic 5 0.162 SQHIGH 4 8 12 1 23 24 Cosmic_Gene C C G C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 55727 14 93712259 93712259 15 ALL relapse snv ARHGAP28 missense V341A NM_001010000 10-PARDWE ARHGAP28 MISSENSE SNP Somatic 10 0.317 SQHIGH 35 42 77 0 67 67 Cosmic_Gene T T C T T TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 79822 18 6887201 6887201 116 ALL relapse snv FAM71E1 missense R191H NM_138411 10-PARDWE FAM71E1 MISSENSE SNP Somatic PFAM:PF12480:DUF3699 -3 0.071 SQHIGH 6 41 47 0 53 53 Cosmic_Gene C C T C C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 112703 19 50971006 50971006 20 ALL relapse snv NCF4 silent P152P NM_000631 10-PARDWE NCF4 SYNONYMOUS SNP Somatic -3 0.071 SQHIGH 4 25 29 0 38 38 Cosmic_Gene G G A G G TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 4689 22 37266570 37266570 15 ALL diagnosis snv LOC101928034 EXON E1_exon NM_002961 10-PARELH S100A4|S100A5 UTR5|TSS-UPSTREAM SNP Somatic 15 0.571 SQHIGH 25 31 56 0 65 65 G G T G G TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 6275|6276 1 153518261 153518261 100 ALL diagnosis snv CYS1 missense R130C NM_001037160 10-PARELH CYS1 MISSENSE SNP Somatic -8 0.045 SQHIGH 8 41 49 0 39 39 G G A G G TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 192668 2 10199069 10199069 22 ALL diagnosis snv KCNS3 missense Q30K NM_002252 10-PARELH KCNS3 MISSENSE SNP Somatic PFAM:PF00651:BTB 17 0.804 SQHIGH 13 25 38 0 39 39 Cosmic_Gene C C A C C TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 3790 2 18112363 18112363 45 ALL diagnosis snv PSME4 missense I731T NM_014614 10-PARELH PSME4 MISSENSE SNP Somatic 14 0.482 SQHIGH 10 26 36 0 40 40 Cosmic_Gene A A G A A TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 23198 2 54148096 54148096 36 ALL diagnosis snv AGAP1 missense K532M NM_001037131 10-PARELH AGAP1 MISSENSE SNP Somatic 1 0.099 SQHIGH 19 16 35 1 29 30 Cosmic_Gene A A T A A TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 116987 2 236877217 236877217 54 ALL diagnosis snv BMP2K missense P428A NM_198892 10-PARELH BMP2K MISSENSE SNP Somatic -9 0.042 SQHIGH 4 13 17 0 21 21 Cosmic_Gene C C G C C TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 55589 4 79791987 79791987 15 ALL diagnosis snv SYNE1 missense S5974F NM_182961 10-PARELH SYNE1 MISSENSE SNP Somatic -9 0.042 SQHIGH 5 14 19 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 23345 6 152614814 152614814 21 ALL diagnosis snv VPS13B splice E1_splice NM_152564 10-PARELH VPS13B DISRUPT SNP Somatic -8 0.045 SQHIGH 4 33 37 0 45 45 Cosmic_Gene G G C G G TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 157680 8 100025987 100025987 14 ALL diagnosis snv AMBRA1 missense H146L NM_017749 10-PARELH AMBRA1 MISSENSE SNP Somatic PFAM:PF00400:WD40 -3 0.067 SQHIGH 4 25 29 0 31 31 Cosmic_Gene T T A T T TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 55626 11 46567268 46567268 13 ALL diagnosis snv DDX6 missense R427C NM_004397 10-PARELH DDX6 MISSENSE SNP Somatic 6 0.166 SQHIGH 16 34 50 0 38 38 Cosmic_Gene G G A G G TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 1656 11 118625594 118625594 45 ALL diagnosis snv PTPRH missense H980Y NM_002842 10-PARELH PTPRH MISSENSE SNP Somatic 12 0.351 SQHIGH 17 23 40 1 50 51 Cosmic_Gene G G A G G TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 5794 19 55696994 55696994 60 ALL diagnosis snv PNPLA5 silent E422E NM_138814 10-PARELH PNPLA5 SYNONYMOUS SNP Somatic 10 0.266 SQHIGH 19 24 43 1 31 32 C C T C C TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 150379 22 44276699 44276699 45 ALL diagnosis mnv ANKRD11 missense V2239A NM_013275 10-PARELH ANKRD11 MISSENSE Sub Somatic -6 0.319 SQHIGH 5 16 21 0 21 21 Cosmic_Gene CA CA TG CA CA TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 29123 16 89346233 89346234 16 ALL relapse snv PHACTR4 missense S410C NM_001048183 10-PARFLV PHACTR4 MISSENSE SNP Somatic -8 0.045 SQHIGH 5 47 52 0 62 62 C C G C C TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 65979 1 28800471 28800471 18 ALL relapse snv ANKRD13C missense G108R NM_030816 10-PARFLV ANKRD13C|HHLA3 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.089 SQHIGH 6 31 37 0 34 34 C C G C C TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 81573|11147 1 70819770 70819770 18 ALL relapse snv OR2G2 missense V116I NM_001001915 10-PARFLV OR2G2 MISSENSE SNP dbsnp.134:rs143792470 Somatic PFAM:PF00001:7tm_1 15 0.606 SQHIGH 28 29 57 0 65 65 G G A G G TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 81470 1 247752007 247752007 113 ALL relapse snv SCN2A missense R1629H NM_021007 10-PARFLV SCN2A MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 4 0.131 SQHIGH 16 17 33 2 47 49 Cosmic_Gene G G A G G TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 6326 2 166245202 166245202 56 ALL relapse snv NEK4 missense S599R NM_003157 10-PARFLV NEK4 MISSENSE SNP Somatic -3 0.067 SQHIGH 5 48 53 0 49 49 Cosmic_Gene A A T A A TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 6787 3 52780107 52780107 15 ALL relapse snv NEK4 missense S598R NM_003157 10-PARFLV NEK4 MISSENSE SNP Somatic 0 0.089 SQHIGH 5 43 48 0 45 45 Cosmic_Gene G G C G G TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 6787 3 52780110 52780110 15 ALL relapse snv CCDC80 missense A904G NM_199511 10-PARFLV CCDC80 MISSENSE SNP Somatic -4 0.062 SQHIGH 5 21 26 0 36 36 Cosmic_Gene G G C G G TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 151887 3 112324406 112324406 20 ALL relapse snv INTS12 missense T355M NM_020395 10-PARFLV INTS12 MISSENSE SNP Somatic 7 0.190 SQHIGH 24 26 50 0 52 52 G G A G G TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 57117 4 106604215 106604215 91 ALL relapse snv BTN2A1 silent A433A NM_007049 10-PARFLV BTN2A1 UTR3,SYNONYMOUS,INTRON SNP Somatic PFAM:PF00622:SPRY 13 0.416 SQHIGH 15 33 48 1 63 64 Cosmic_Gene C C T C C TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 11120 6 26468492 26468492 51 ALL relapse snv BTN2A1 silent V434V NM_007049 10-PARFLV BTN2A1 UTR3,SYNONYMOUS,INTRON SNP Somatic PFAM:PF00622:SPRY 9 0.241 SQHIGH 19 33 52 0 66 66 Cosmic_Gene G G C G G TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 11120 6 26468495 26468495 77 ALL relapse snv OPRM1 silent F141F NM_001145287 10-PARFLV OPRM1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 7 0.190 SQHIGH 22 28 50 0 42 42 Cosmic_Gene C C T C C TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 4988 6 154412166 154412166 70 ALL relapse snv SETX missense L968V NM_015046 10-PARFLV SETX MISSENSE SNP Somatic 9 0.241 SQHIGH 28 35 63 0 50 50 Cosmic_Gene G G C G G TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 23064 9 135204083 135204083 86 ALL relapse snv ART1 silent T101T NM_004314 10-PARFLV ART1 SYNONYMOUS SNP Somatic PFAM:PF01129:ART 10 0.273 SQHIGH 21 31 52 0 63 63 C C A C C TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 417 11 3681052 3681052 84 ALL relapse snv KRAS missense G12D NM_033360 10-PARFLV KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 18 0.870 SQHIGH 22 13 35 0 47 47 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 3845 12 25398284 25398284 105 ALL relapse snv KRT79 missense R523Q NM_175834 10-PARFLV KRT79 MISSENSE SNP Somatic 17 0.804 SQHIGH 21 27 48 0 28 28 Cosmic_Gene C C T C C TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 338785 12 53215696 53215696 51 ALL relapse snv PABPC3 missense R544M NM_030979 10-PARFLV PABPC3 MISSENSE SNP Somatic PFAM:PF00658:PABP -8 0.045 SQHIGH 4 38 42 0 47 47 Cosmic_Gene G G T G G TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 5042 13 25671967 25671967 13 ALL relapse snv PABPC3 missense K552E NM_030979 10-PARFLV PABPC3 MISSENSE SNP Somatic PFAM:PF00658:PABP -5 0.058 SQHIGH 7 65 72 0 65 65 Cosmic_Gene A A G A A TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 5042 13 25671990 25671990 20 ALL relapse snv MAGOH2 EXON E5_exon NM_001004313 10-PARFLV TMEM220 INTRON SNP Somatic 1 0.097 SQHIGH 10 30 40 0 43 43 C C G C C TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 388335 17 10619684 10619684 35 ALL relapse snv FADS6 missense T151M NM_178128 10-PARFLV FADS6 MISSENSE SNP Somatic PFAM:PF00487:FA_desaturase 8 0.214 SQHIGH 25 15 40 2 49 51 G G A G G TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 283985 17 72878746 72878746 93 ALL relapse snv CRLF2 missense F232C NM_022148 10-PARFLV CRLF2 MISSENSE SNP Somatic 9 0.241 SQHIGH 16 11 27 0 48 48 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 64109 X 1314966 1314966 88 ALL relapse snv PRPS2 missense H196L NM_001039091 10-PARFLV PRPS2 MISSENSE SNP Somatic PFAM:PF00156:Pribosyltran 21 1.000 SQHIGH 31 6 37 0 37 37 A T A TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 5634 X 12837673 12837673 145 ALL diagnosis snv PLEKHN1 missense A414G NM_032129 10-PARFLV PLEKHN1 INTRON,MISSENSE SNP Somatic -3 0.066 SQHIGH 3 17 20 0 33 33 C C G C C TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 84069 1 908654 908654 13 ALL diagnosis snv MPZL1 missense S260T NM_003953 10-PARFLV MPZL1 UTR3,MISSENSE SNP Somatic -3 0.066 SQHIGH 6 51 57 1 75 76 Cosmic_Gene T T A T T TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 9019 1 167757126 167757126 16 ALL diagnosis snv OR2G2 missense V116I NM_001001915 10-PARFLV OR2G2 MISSENSE SNP dbsnp.134:rs143792470 Somatic PFAM:PF00001:7tm_1 17 0.804 SQHIGH 23 23 46 0 65 65 G G A G G TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 81470 1 247752007 247752007 106 ALL diagnosis snv OPRM1 silent F141F NM_001145287 10-PARFLV OPRM1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 8 0.210 SQHIGH 15 24 39 0 42 42 Cosmic_Gene C C T C C TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 4988 6 154412166 154412166 55 ALL diagnosis snv SETX missense L968V NM_015046 10-PARFLV SETX MISSENSE SNP Somatic 9 0.237 SQHIGH 27 40 67 0 50 50 Cosmic_Gene G G C G G TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 23064 9 135204083 135204083 78 ALL diagnosis snv ART1 silent T101T NM_004314 10-PARFLV ART1 SYNONYMOUS SNP Somatic PFAM:PF01129:ART 10 0.269 SQHIGH 24 31 55 0 63 63 C C A C C TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 417 11 3681052 3681052 94 ALL diagnosis snv KRAS missense G12D NM_033360 10-PARFLV KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 3 0.116 SQHIGH 12 33 45 0 47 47 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 3845 12 25398284 25398284 41 ALL diagnosis snv KRT79 missense R523Q NM_175834 10-PARFLV KRT79 MISSENSE SNP Somatic 17 0.804 SQHIGH 22 23 45 0 28 28 Cosmic_Gene C C T C C TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 338785 12 53215696 53215696 58 ALL diagnosis snv FADS6 missense T151M NM_178128 10-PARFLV FADS6 MISSENSE SNP Somatic PFAM:PF00487:FA_desaturase 5 0.142 SQHIGH 19 33 52 2 49 51 G G A G G TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 283985 17 72878746 72878746 46 ALL diagnosis snv ZSWIM3 missense R673C NM_080752 10-PARFLV ZSWIM1|ZSWIM3 TSS-UPSTREAM|MISSENSE,UTR SNP dbsnp.134:rs141779185 Somatic -27 0.006 6 16 22 0 24 24 COSMIC:mut:73510 Cosmic_Gene C C T C C TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 90204|140831 20 44507214 44507214 21 ALL diagnosis snv CRLF2 missense F232C NM_022148 10-PARFLV CRLF2 MISSENSE SNP Somatic 8 0.210 SQHIGH 14 17 31 0 48 48 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 64109 X 1314966 1314966 67 ALL relapse snv UBR4 silent L4594L NM_020765 10-PARFTR UBR4 SYNONYMOUS SNP Somatic 15 0.620 SQHIGH 31 22 53 0 57 57 Cosmic_Gene G G A G G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 23352 1 19420600 19420600 127 ALL relapse snv SETD2 nonsense R1598* NM_014159 10-PARFTR SETD2 NONSENSE SNP Somatic PFAM:PF00856:SET 10 0.261 SQHIGH 32 26 58 0 55 55 Cosmic_Gene G G A G G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 29072 3 47147534 47147534 118 ALL relapse snv WHSC1 missense E1099K NM_133330 10-PARFTR WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET 13 0.403 SQHIGH 41 43 84 0 62 62 Cosmic_Gene G G A G G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 7468 4 1962801 1962801 123 ALL relapse snv ACTB missense E205K NM_001101 10-PARFTR ACTB|LOC100505829 MISSENSE|INTRON SNP Somatic PFAM:PF00022:Actin 8 0.202 SQHIGH 38 36 74 1 84 85 C C T C C TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 60|100505829 7 5568101 5568101 142 ALL relapse snv LRRC4 silent T287T NM_022143 10-PARFTR SND1|LRRC4 INTRON|SYNONYMOUS SNP Somatic 12 0.346 SQHIGH 44 34 78 1 76 77 Cosmic_Gene G G A G G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 27044|64101 7 127669833 127669833 154 ALL relapse snv PLAT splice_region E25_E3splice_region NM_000930 10-PARFTR PLAT ACCEPTOR SNP Somatic 10 0.261 SQHIGH 34 33 67 0 75 75 Cosmic_Gene G G A G G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 5327 8 42048937 42048937 137 ALL relapse snv GLIS3 silent A539A NM_001042413 10-PARFTR GLIS3 SYNONYMOUS SNP Somatic 13 0.403 SQHIGH 12 14 26 1 33 34 Cosmic_Gene G G A G G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 169792 9 4117861 4117861 42 ALL relapse snv DNAI1 silent A683A NM_012144 10-PARFTR DNAI1 SYNONYMOUS SNP Somatic 6 0.158 SQHIGH 20 44 64 0 51 51 G G A G G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 27019 9 34520703 34520703 58 ALL relapse snv SLCO2B1 missense R143C NM_007256 10-PARFTR SLCO2B1 INTRON,MISSENSE SNP Somatic PFAM:PF03137:OATP 12 0.346 SQHIGH 28 28 56 0 50 50 Cosmic_Gene C C T C C TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 11309 11 74876973 74876973 96 ALL relapse snv PANX3 missense V234A NM_052959 10-PARFTR PANX3|TBRG1 MISSENSE|TSS-UPSTREAM SNP Somatic 17 0.859 SQHIGH 33 35 68 1 65 66 T T C T T TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 116337|84897 11 124489353 124489353 106 ALL relapse snv POLE missense E206G NM_006231 10-PARFTR POLE MISSENSE SNP Somatic PFAM:PF03104:DNA_pol_B_exo1 14 0.482 SQHIGH 44 31 75 0 52 52 Cosmic_Gene T T C T T TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 5426 12 133254267 133254267 134 ALL relapse snv AXIN1 missense S166R NM_003502 10-PARFTR AXIN1 MISSENSE SNP Somatic 15 0.620 SQHIGH 29 25 54 0 68 68 Cosmic_Gene G G T G G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 8312 16 396528 396528 128 ALL relapse snv NUP85 silent I591I NM_024844 10-PARFTR NUP85 SYNONYMOUS SNP Somatic PFAM:PF07575:Nucleopor_Nup85 -7 0.046 SQHIGH 5 57 62 0 47 47 Cosmic_Gene T T C T T TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 79902 17 73231200 73231200 13 ALL relapse snv APOE nonsense S94* NM_000041 10-PARFTR APOE NONSENSE SNP Somatic PFAM:PF01442:Apolipoprotein 5 0.135 SQHIGH 35 33 68 0 51 51 C C A C C TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 348 19 45411834 45411834 108 ALL relapse snv NINL silent P706P NM_025176 10-PARFTR NINL SYNONYMOUS SNP Somatic -5 0.053 SQHIGH 5 20 25 0 20 20 Cosmic_Gene A A G A A TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 22981 20 25459642 25459642 14 ALL relapse snv STAG2 splice_region Q399_E13splice_region NM_001042749 10-PARFTR STAG2 DONOR SNP Somatic 7 0.179 SQHIGH 8 0 8 0 10 10 Cosmic_Gene G A G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 10735 X 123185249 123185249 46 ALL relapse snv PHF6 nonsense R274* NM_001015877 10-PARFTR PHF6 NONSENSE SNP Somatic -9 0.039 SQHIGH 3 0 3 0 5 5 Cosmic_Gene C T C TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 84295 X 133549136 133549136 17 ALL relapse snv ATP11C missense Q82E NM_173694 10-PARFTR ATP11C MISSENSE SNP Somatic 14 0.482 SQHIGH 13 0 13 0 22 22 Cosmic_Gene G C G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 286410 X 138901499 138901499 92 ALL relapse mnv MALRD1 missense V1043_T1044>VA NM_001142308 10-PARFTR MALRD1 MISSENSE Sub Somatic -3 0.376 SQHIGH 16 10 26 0 24 24 AA AA TG AA AA TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 100652979 10 19569025 19569026 60 ALL relapse mnv ANKS1B missense C455_D456>LY NM_152788 10-PARFTR ANKS1B MISSENSE Sub Somatic 2 0.762 SQHIGH 18 28 46 0 43 43 CAC CAC ATA CAC CAC TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 56899 12 99898326 99898328 60 ALL relapse mnv KLHL36 missense N524P NM_024731 10-PARFTR KLHL36 MISSENSE Sub Somatic PFAM:PF01344:Kelch_1 -10 0.212 SQHIGH 6 23 29 0 21 21 Cosmic_Gene AAC AAC CCG AAC AAC TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 79786 16 84695458 84695460 15 ALL diagnosis snv UBR4 silent L4594L NM_020765 10-PARFTR UBR4 SYNONYMOUS SNP Somatic 15 0.626 SQHIGH 25 33 58 0 57 57 Cosmic_Gene G G A G G TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 23352 1 19420600 19420600 89 ALL diagnosis snv SETD2 nonsense R1598* NM_014159 10-PARFTR SETD2 NONSENSE SNP Somatic PFAM:PF00856:SET 10 0.264 SQHIGH 24 30 54 0 55 55 Cosmic_Gene G G A G G TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 29072 3 47147534 47147534 88 ALL diagnosis snv ADH5 missense K9R NM_000671 10-PARFTR ADH5|LOC100507053 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.084 SQHIGH 5 19 24 2 44 46 Cosmic_Gene T T C T T TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 128|100507053 4 100006354 100006354 14 ALL diagnosis snv TCOF1 missense K1171E NM_000356 10-PARFTR TCOF1 MISSENSE SNP Somatic -9 0.040 SQHIGH 6 48 54 0 54 54 Cosmic_Gene A A G A A TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 6949 5 149773076 149773076 19 ALL diagnosis snv ACTB missense E205K NM_001101 10-PARFTR ACTB|LOC100505829 MISSENSE|INTRON SNP Somatic PFAM:PF00022:Actin 3 0.111 SQHIGH 32 58 90 1 84 85 C C T C C TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 60|100505829 7 5568101 5568101 94 ALL diagnosis snv LRRC4 silent T287T NM_022143 10-PARFTR SND1|LRRC4 INTRON|SYNONYMOUS SNP Somatic 8 0.204 SQHIGH 41 65 106 1 76 77 Cosmic_Gene G G A G G TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 27044|64101 7 127669833 127669833 101 ALL diagnosis snv SLCO2B1 missense R143C NM_007256 10-PARFTR SLCO2B1 INTRON,MISSENSE SNP Somatic PFAM:PF03137:OATP 12 0.350 SQHIGH 19 30 49 0 50 50 Cosmic_Gene C C T C C TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 11309 11 74876973 74876973 68 ALL diagnosis snv AXIN1 missense S166R NM_003502 10-PARFTR AXIN1 MISSENSE SNP Somatic 10 0.264 SQHIGH 28 48 76 0 68 68 Cosmic_Gene G G T G G TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 8312 16 396528 396528 90 ALL diagnosis snv GATA6 missense R13P NM_005257 10-PARFTR GATA6|LOC100128893 MISSENSE|TSS-UPSTREAM SNP Somatic -6 0.051 SQHIGH 7 21 28 0 24 24 Cosmic_Gene G G C G G TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 2627|100128893 18 19751143 19751143 21 ALL diagnosis snv APOE nonsense S94* NM_000041 10-PARFTR APOE NONSENSE SNP Somatic PFAM:PF01442:Apolipoprotein 3 0.111 SQHIGH 15 41 56 0 51 51 C C A C C TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 348 19 45411834 45411834 47 ALL diagnosis snv SYMPK missense S439A NM_004819 10-PARFTR SYMPK MISSENSE SNP Somatic -10 0.037 SQHIGH 5 22 27 0 25 25 Cosmic_Gene A A C A A TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 8189 19 46338414 46338414 15 ALL diagnosis snv STAG2 splice_region Q399_E13splice_region NM_001042749 10-PARFTR STAG2 DONOR SNP Somatic 5 0.137 SQHIGH 7 3 10 0 10 10 Cosmic_Gene G A G TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 10735 X 123185249 123185249 28 ALL diagnosis mnv MALRD1 missense V1043_T1044>VA NM_001142308 10-PARFTR MALRD1 MISSENSE Sub Somatic -3 0.381 SQHIGH 9 11 20 0 24 24 AA AA TG AA AA TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 100652979 10 19569025 19569026 36 ALL diagnosis snv KCNK2 silent P127P NM_001017424 10-PARGFV KCNK2 SYNONYMOUS SNP Somatic -5 0.084 SQHIGH 5 13 18 0 18 18 G G A G G TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 3776 1 215298011 215298011 16 ALL diagnosis snv WHSC1 missense E1099K NM_133330 10-PARGFV WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET -5 0.084 SQHIGH 7 28 35 0 52 52 Cosmic_Gene G G A G G TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 7468 4 1962801 1962801 29 ALL diagnosis snv UNC5D missense E105K NM_080872 10-PARGFV UNC5D MISSENSE SNP Somatic 4 0.195 SQHIGH 6 20 26 0 23 23 Cosmic_Gene G G A G G TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 137970 8 35407019 35407019 18 ALL diagnosis snv IARS silent V822V NM_002161 10-PARGFV IARS SYNONYMOUS SNP Somatic -1 0.121 SQHIGH 4 31 35 0 50 50 Cosmic_Gene T T C T T TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 3376 9 95012535 95012535 16 ALL diagnosis snv HSPA5 silent L416L NM_005347 10-PARGFV HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -7 0.072 SQHIGH 5 33 38 0 47 47 Cosmic_Gene C C A C C TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 3309 9 128000574 128000574 18 ALL diagnosis snv HSPA5 silent V415V NM_005347 10-PARGFV HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -7 0.072 SQHIGH 5 34 39 0 58 58 Cosmic_Gene T T G T T TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 3309 9 128000577 128000577 20 ALL diagnosis snv DBH silent C269C NM_000787 10-PARGFV DBH SYNONYMOUS SNP dbsnp.134:rs141816448 Somatic PFAM:PF01082:Cu2_monooxygen -7 0.072 SQHIGH 12 17 29 0 42 42 Cosmic_Gene C C T C C TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 1621 9 136508597 136508597 54 ALL diagnosis snv PTPN11 missense D61N NM_002834 10-PARGFV PTPN11 MISSENSE SNP Somatic 14 0.589 SQHIGH 11 27 38 0 35 35 Cosmic_Gene G G A G G TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 5781 12 112888165 112888165 35 ALL diagnosis snv ANG missense R145H NM_001145 10-PARGFV ANG|RNASE4 MISSENSE|INTRON SNP Somatic 7 0.285 SQHIGH 11 36 47 0 49 49 Cosmic_Gene G G A G G TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 283|6038 14 21162157 21162157 37 ALL diagnosis snv HAUS2 silent L50L NM_018097 10-PARGFV HAUS2 SYNONYMOUS,INTRON SNP Somatic -8 0.066 SQHIGH 3 9 12 0 25 25 A A T A A TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 55142 15 42850452 42850452 15 ALL diagnosis snv USHBP1 missense R270P NM_031941 10-PARGFV USHBP1 MISSENSE SNP Somatic -24 0.011 6 14 20 0 28 28 Cosmic_Gene C C G C C TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 83878 19 17370501 17370501 25 ALL diagnosis snv KRTAP19-1 silent Y84Y NM_181607 10-PARGFV KRTAP19-1 SYNONYMOUS SNP Somatic 5 0.216 SQHIGH 14 46 60 0 50 50 G G A G G TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 337882 21 31852385 31852385 40 ALL relapse snv KPRP missense V120M NM_001025231 10-PARGFV KPRP MISSENSE SNP Somatic 17 0.849 SQHIGH 14 20 34 2 40 42 Cosmic_Gene G G A G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 448834 1 152732422 152732422 39 ALL relapse snv KCNK2 silent P127P NM_001017424 10-PARGFV KCNK2 SYNONYMOUS SNP Somatic 3 0.191 SQHIGH 9 15 24 0 18 18 G G A G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 3776 1 215298011 215298011 25 ALL relapse snv WHSC1 missense E1099K NM_133330 10-PARGFV WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET -3 0.106 SQHIGH 13 42 55 0 52 52 Cosmic_Gene G G A G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 7468 4 1962801 1962801 41 ALL relapse snv UNC5D missense E105K NM_080872 10-PARGFV UNC5D MISSENSE SNP Somatic 13 0.539 SQHIGH 19 19 38 0 23 23 Cosmic_Gene G G A G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 137970 8 35407019 35407019 49 ALL relapse snv CSMD3 silent G1186G NM_198123 10-PARGFV CSMD3 SYNONYMOUS SNP Somatic 7 0.309 SQHIGH 11 36 47 0 39 39 Cosmic_Gene G G T G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 114788 8 113649203 113649203 31 ALL relapse snv DBH silent C269C NM_000787 10-PARGFV DBH SYNONYMOUS SNP dbsnp.134:rs141816448 Somatic PFAM:PF01082:Cu2_monooxygen -7 0.078 SQHIGH 24 14 38 0 42 42 Cosmic_Gene C C T C C TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 1621 9 136508597 136508597 102 ALL relapse snv GTPBP4 missense A463V NM_012341 10-PARGFV GTPBP4 MISSENSE SNP Somatic 10 0.401 SQHIGH 23 27 50 0 22 22 Cosmic_Gene C C T C C TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 23560 10 1058448 1058448 46 ALL relapse snv FRMPD2 missense S757L NM_001018071 10-PARGFV FRMPD2 MISSENSE SNP Somatic -10 0.061 SQHIGH 10 63 73 0 66 66 Cosmic_Gene G G A G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 143162 10 49393685 49393685 29 ALL relapse snv KCNQ1 missense D459N NM_000218 10-PARGFV KCNQ1 MISSENSE SNP Somatic PFAM:PF03520:KCNQ_channel 5 0.234 SQHIGH 10 27 37 1 42 43 Cosmic_Gene G G A G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 3784 11 2610066 2610066 28 ALL relapse snv ANO3 splice K144_E4splice NM_031418 10-PARGFV ANO3 DISRUPT SNP Somatic -3 0.106 SQHIGH 10 14 24 0 14 14 Cosmic_Gene T T G T T TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 63982 11 26484697 26484697 24 ALL relapse snv KRT80 silent R275R NM_182507 10-PARGFV KRT80 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament 9 0.366 SQHIGH 12 27 39 0 45 45 C C T C C TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 144501 12 52567390 52567390 45 ALL relapse snv PTPN11 missense D61N NM_002834 10-PARGFV PTPN11 MISSENSE SNP Somatic -1 0.130 SQHIGH 6 31 37 0 35 35 Cosmic_Gene G G A G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 5781 12 112888165 112888165 18 ALL relapse snv ANG missense R145H NM_001145 10-PARGFV ANG|RNASE4 MISSENSE|INTRON SNP Somatic 6 0.278 SQHIGH 16 52 68 0 49 49 Cosmic_Gene G G A G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 283|6038 14 21162157 21162157 41 ALL relapse snv NRXN3 missense R94C NM_004796 10-PARGFV NRXN3 MISSENSE SNP Somatic -2 0.117 SQHIGH 16 66 82 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 9369 14 79175737 79175737 33 ALL relapse snv DHX58 missense A538S NM_024119 10-PARGFV DHX58 MISSENSE SNP Somatic 12 0.489 SQHIGH 12 17 29 0 23 23 C C A C C TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 79132 17 40255768 40255768 36 ALL relapse snv TBCD missense A467V NM_005993 10-PARGFV TBCD MISSENSE SNP Somatic -5 0.090 SQHIGH 7 20 27 0 14 14 C C T C C TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 6904 17 80828181 80828181 14 ALL relapse snv TYMS missense G143A NM_001071 10-PARGFV C18orf56|TYMS TSS-UPSTREAM|MISSENSE SNP Somatic 9 0.366 SQHIGH 14 35 49 0 35 35 G G C G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 494514|7298 18 662294 662294 37 ALL relapse snv ZNF516 missense G881S NM_014643 10-PARGFV ZNF516 MISSENSE SNP Somatic -2 0.117 SQHIGH 9 19 28 0 34 34 Cosmic_Gene C C T C C TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 9658 18 74091429 74091429 35 ALL relapse snv KRTAP19-1 silent Y84Y NM_181607 10-PARGFV KRTAP19-1 SYNONYMOUS SNP Somatic 6 0.278 SQHIGH 24 41 65 0 50 50 G G A G G TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 337882 21 31852385 31852385 69 ALL relapse complex PDZD7 proteinDel E591_V594>E NM_001195263 10-PARGFV PDZD7 DELETE+ Sub Somatic -6 0.343 SQHIGH 12 32 44 0 57 57 Cosmic_Gene TCACCAGGTCC TCACCAGGTCC TT TCACCAGGTCC TCACCAGGTCC TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 79955 10 102771982 102771992 48 ALL relapse snv GPA33 splice P231_E5splice NM_005814 10-PARGHW GPA33 MISSENSE SNP Somatic 15 0.739 SQHIGH 9 20 29 0 41 41 G G A G G TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 10223 1 167024967 167024967 38 ALL relapse snv HMCN1 silent N3084N NM_031935 10-PARGHW HMCN1 SYNONYMOUS SNP Somatic PFAM:PF00047:ig 2 0.177 SQHIGH 21 2 23 0 18 18 Cosmic_Gene C T T C C TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 83872 1 186056666 186056666 90 ALL relapse snv USH2A nonsense R2914* NM_206933 10-PARGHW USH2A NONSENSE SNP Somatic 15 0.739 SQHIGH 17 13 30 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 7399 1 216040454 216040454 68 ALL relapse snv CAD missense R1661W NM_004341 10-PARGHW CAD MISSENSE SNP Somatic 3 0.197 SQHIGH 10 9 19 0 17 17 Cosmic_Gene C C T C C TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 790 2 27461419 27461419 34 ALL relapse snv CDK15 splice K41K NM_001261435 10-PARGHW CDK15 INTRON SNP Somatic -8 0.063 SQHIGH 12 15 27 0 25 25 Cosmic_Gene G G A G G TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 65061 2 202671510 202671510 41 ALL relapse snv TSEN2 missense R75P NM_025265 10-PARGHW TSEN2 MISSENSE SNP Somatic 16 0.804 SQHIGH 14 18 32 1 27 28 Cosmic_Gene G G C G G TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 80746 3 12533669 12533669 36 ALL relapse snv FGFBP2 missense A154P NM_031950 10-PARGHW FGFBP2 MISSENSE SNP Somatic PFAM:PF06473:FGF-BP1 15 0.739 SQHIGH 16 15 31 0 24 24 C C G C C TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 83888 4 15964293 15964293 50 ALL relapse snv ITGA2 nonsense L1048* NM_002203 10-PARGHW ITGA2 NONSENSE SNP Somatic PFAM:PF08441:Integrin_alpha2 -38 0.001 4 24 28 0 44 44 Cosmic_Gene T T A T T TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 3673 5 52377525 52377525 17 ALL relapse snv HIST1H2AM missense A15G NM_003514 10-PARGHW HIST1H2AM|HIST1H3J|HIST1H2BO MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 13 0.604 SQHIGH 13 20 33 1 23 24 Cosmic_Gene G G C G G TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 8336|8356|8348 6 27860884 27860884 27 ALL relapse snv BCAP29 missense V70I NM_001008405 10-PARGHW BCAP29 MISSENSE,UTR SNP Somatic PFAM:PF05529:Bap31 2 0.177 SQHIGH 10 14 24 0 31 31 Cosmic_Gene G G A G G TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 55973 7 107234414 107234414 42 ALL relapse snv STMN2 nonsense E176* NM_007029 10-PARGHW STMN2 UTR3,NONSENSE SNP Somatic PFAM:PF00836:Stathmin 15 0.739 SQHIGH 13 7 20 0 21 21 Cosmic_Gene G G T G G TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 11075 8 80577095 80577095 54 ALL relapse snv KIAA0368 missense D975G NM_001080398 10-PARGHW KIAA0368 MISSENSE SNP Somatic 10 0.430 SQHIGH 14 16 30 0 41 41 T T C T T TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 23392 9 114172481 114172481 62 ALL relapse snv KIAA1217 missense P1727H NM_019590 10-PARGHW KIAA1217 INTRON,MISSENSE SNP Somatic -1 0.127 SQHIGH 9 15 24 0 23 23 Cosmic_Gene C C A C C TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 56243 10 24833379 24833379 30 ALL relapse snv NLRP10 missense R406W NM_176821 10-PARGHW NLRP10 MISSENSE SNP Somatic 7 0.307 SQHIGH 16 25 41 0 24 24 Cosmic_Gene G G A G G TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 338322 11 7981943 7981943 38 ALL relapse snv ABCC9 missense Y1261C NM_005691 10-PARGHW ABCC9 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane 8 0.342 SQHIGH 10 9 19 0 27 27 Cosmic_Gene T T C T T TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 10060 12 21970231 21970231 46 ALL relapse snv GLT1D1 missense I51T NM_144669 10-PARGHW GLT1D1 MISSENSE SNP Somatic 4 0.218 SQHIGH 11 10 21 0 31 31 T T C T T TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 144423 12 129360542 129360542 52 ALL relapse snv TEP1 silent A2201A NM_007110 10-PARGHW TEP1 SYNONYMOUS SNP Somatic 15 0.739 SQHIGH 20 21 41 0 53 53 Cosmic_Gene T T A T T TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 7011 14 20841838 20841838 87 ALL relapse snv MDGA2 missense R378H NM_001113498 10-PARGHW MDGA2 MISSENSE SNP Somatic 9 0.383 SQHIGH 12 18 30 0 15 15 Cosmic_Gene C C T C C TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 161357 14 47530637 47530637 25 ALL relapse snv SAMD15 missense E340V NM_001010860 10-PARGHW SAMD15|TMED8 MISSENSE|TSS-UPSTREAM SNP Somatic 9 0.383 SQHIGH 27 36 63 0 82 82 A A T A A TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 161394|283578 14 77844780 77844780 115 ALL relapse snv RASGRF1 missense K158Q NM_002891 10-PARGHW RASGRF1 MISSENSE SNP Somatic -5 0.083 SQHIGH 6 24 30 1 32 33 Cosmic_Gene T T G T T TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 5923 15 79350735 79350735 14 ALL relapse snv ANKRD24 missense R402W NM_133475 10-PARGHW ANKRD24 MISSENSE SNP Somatic 13 0.604 SQHIGH 16 21 37 0 40 40 C C T C C TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 170961 19 4215981 4215981 60 ALL relapse snv CRLF2 missense F232C NM_022148 10-PARGHW CRLF2 MISSENSE SNP Somatic 0 0.142 SQHIGH 15 16 31 1 20 21 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 64109 X 1314966 1314966 32 ALL relapse mnv YTHDF2 missense M1_S2>KA NM_016258 10-PARGHW YTHDF2 MISSTART,UTR5 Sub Somatic -8 0.320 SQHIGH 5 33 38 0 33 33 Cosmic_Gene TGT TGT AGG TGT TGT TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 51441 1 29063634 29063636 14 ALL relapse mnv TNIP2 missense R145_S146>RY NM_024309 10-PARGHW TNIP2 MISSENSE Sub Somatic -31 0.028 5 24 29 0 34 34 Cosmic_Gene GAG GAG TAC GAG GAG TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 79155 4 2749512 2749514 18 ALL diagnosis snv HMCN1 silent N3084N NM_031935 10-PARGHW HMCN1 SYNONYMOUS SNP Somatic PFAM:PF00047:ig 1 0.148 SQHIGH 11 11 22 0 18 18 Cosmic_Gene C C T C C TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 83872 1 186056666 186056666 35 ALL diagnosis snv ADAMTS9 missense S373P NM_182920 10-PARGHW ADAMTS9 MISSENSE SNP Somatic -8 0.059 SQHIGH 6 22 28 0 23 23 Cosmic_Gene A A G A A TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 56999 3 64641304 64641304 17 ALL diagnosis snv FGFBP2 missense A154P NM_031950 10-PARGHW FGFBP2 MISSENSE SNP Somatic PFAM:PF06473:FGF-BP1 13 0.604 SQHIGH 12 9 21 0 24 24 C C G C C TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 83888 4 15964293 15964293 50 ALL diagnosis snv PCDH7 missense P1109L NM_001173523 10-PARGHW PCDH7 MISSENSE SNP Somatic 12 0.540 SQHIGH 13 18 31 0 21 21 Cosmic_Gene C C T C C TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 5099 4 30921926 30921926 35 ALL diagnosis snv MDN1 missense V4283E NM_014611 10-PARGHW MDN1 MISSENSE SNP Somatic 1 0.148 SQHIGH 5 11 16 0 17 17 Cosmic_Gene A A T A A TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 23195 6 90384222 90384222 17 ALL diagnosis snv BCAP29 missense V70I NM_001008405 10-PARGHW BCAP29 MISSENSE,UTR SNP Somatic PFAM:PF05529:Bap31 2 0.166 SQHIGH 18 16 34 0 31 31 Cosmic_Gene G G A G G TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 55973 7 107234414 107234414 64 ALL diagnosis snv STMN2 nonsense E176* NM_007029 10-PARGHW STMN2 UTR3,NONSENSE SNP Somatic PFAM:PF00836:Stathmin 11 0.477 SQHIGH 9 10 19 0 21 21 Cosmic_Gene G G T G G TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 11075 8 80577095 80577095 35 ALL diagnosis snv JAK2 missense R683G NM_004972 10-PARGHW JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 2 0.166 SQHIGH 10 22 32 0 28 28 COSMIC:mut:29300 Cosmic_Gene A A G A A TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 3717 9 5078360 5078360 31 ALL diagnosis snv PAX5 missense I41T NM_016734 10-PARGHW PAX5 MISSENSE SNP Somatic 14 0.676 SQHIGH 12 2 14 0 35 35 Cosmic_Gene A A G A A TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 5079 9 37020723 37020723 90 ALL diagnosis snv KIAA0368 missense D975G NM_001080398 10-PARGHW KIAA0368 MISSENSE SNP Somatic 10 0.424 SQHIGH 12 15 27 0 41 41 T T C T T TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 23392 9 114172481 114172481 56 ALL diagnosis snv KIAA1217 missense P1727H NM_019590 10-PARGHW KIAA1217 INTRON,MISSENSE SNP Somatic -3 0.093 SQHIGH 15 26 41 0 23 23 Cosmic_Gene C C A C C TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 56243 10 24833379 24833379 34 ALL diagnosis snv QSER1 missense P411L NM_001076786 10-PARGHW QSER1 MISSENSE SNP Somatic 2 0.166 SQHIGH 9 32 41 0 45 45 Cosmic_Gene C C T C C TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 79832 11 32954423 32954423 31 ALL diagnosis snv GLT1D1 missense I51T NM_144669 10-PARGHW GLT1D1 MISSENSE SNP Somatic 1 0.148 SQHIGH 6 18 24 0 31 31 T T C T T TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 144423 12 129360542 129360542 23 ALL diagnosis snv MDGA2 missense R378H NM_001113498 10-PARGHW MDGA2 MISSENSE SNP Somatic 10 0.424 SQHIGH 14 7 21 0 15 15 Cosmic_Gene C C T C C TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 161357 14 47530637 47530637 45 ALL diagnosis snv SAMD15 missense E340V NM_001010860 10-PARGHW SAMD15|TMED8 MISSENSE|TSS-UPSTREAM SNP Somatic 5 0.232 SQHIGH 29 44 73 0 82 82 A A T A A TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 161394|283578 14 77844780 77844780 111 ALL diagnosis snv ANKRD24 missense R402W NM_133475 10-PARGHW ANKRD24 MISSENSE SNP Somatic 13 0.604 SQHIGH 16 22 38 0 40 40 C C T C C TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 170961 19 4215981 4215981 59 ALL diagnosis snv SDCBP2-AS1 EXON E2_exon NM_000801 10-PARGHW LOC100507495|FKBP1A|FKBP1A-SDCBP2 UTR|INTRON|INTRON SNP Somatic 9 0.377 SQHIGH 9 18 27 0 19 19 A A T A A TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 100507495|2280|100528031 20 1357663 1357663 24 ALL diagnosis snv RGS11 silent D279D NM_183337 10-PARGML RGS11 SYNONYMOUS SNP Somatic 12 0.506 SQHIGH 14 26 40 1 52 53 Cosmic_Gene G G A G G TARGET-10-PARGML-03A-01D TARGET-10-PARGML-10A-01D 8786 16 321227 321227 48 ALL diagnosis snv TP53 missense R282G NM_000546 10-PARGML TP53 MISSENSE SNP Somatic 9 0.352 SQHIGH 8 26 34 0 59 59 COSMIC:mut:99934,COSMIC:mut:10992 Cosmic_Gene G G C G G TARGET-10-PARGML-03A-01D TARGET-10-PARGML-10A-01D 7157 17 7577094 7577094 37 ALL diagnosis snv STAP2 silent G264G NM_017720 10-PARGML STAP2 SYNONYMOUS SNP Somatic 2 0.167 SQHIGH 16 68 84 0 102 102 Cosmic_Gene G G C G G TARGET-10-PARGML-03A-01D TARGET-10-PARGML-10A-01D 55620 19 4326976 4326976 59 ALL diagnosis snv TMPRSS6 missense E697G NM_153609 10-PARGML TMPRSS6 MISSENSE SNP Somatic -8 0.067 SQHIGH 8 19 27 1 40 41 Cosmic_Gene T T C T T TARGET-10-PARGML-03A-01D TARGET-10-PARGML-10A-01D 164656 22 37465163 37465163 27 ALL relapse snv PLCH1 missense D1671E NM_001130960 10-PARGML PLCH1 UTR3,MISSENSE SNP Somatic 16 0.784 SQHIGH 18 21 39 0 90 90 Cosmic_Gene A A C A A TARGET-10-PARGML-04A-01D TARGET-10-PARGML-10A-01D 23007 3 155198826 155198826 108 ALL relapse snv RBMXL2 missense D267N NM_014469 10-PARGML RBMXL2 MISSENSE SNP Somatic -5 0.100 SQHIGH 3 5 8 0 20 20 G G A G G TARGET-10-PARGML-04A-01D TARGET-10-PARGML-10A-01D 27288 11 7111150 7111150 18 ALL relapse snv RGS11 silent D279D NM_183337 10-PARGML RGS11 SYNONYMOUS SNP Somatic 8 0.359 SQHIGH 8 21 29 1 52 53 Cosmic_Gene G G A G G TARGET-10-PARGML-04A-01D TARGET-10-PARGML-10A-01D 8786 16 321227 321227 31 ALL relapse snv SETD1A missense A226D NM_014712 10-PARGML SETD1A MISSENSE SNP Somatic -9 0.070 SQHIGH 4 23 27 0 43 43 Cosmic_Gene C C A C C TARGET-10-PARGML-04A-01D TARGET-10-PARGML-10A-01D 9739 16 30975452 30975452 17 ALL relapse snv TP53 missense R282G NM_000546 10-PARGML TP53 MISSENSE SNP Somatic 14 0.670 SQHIGH 13 21 34 0 59 59 COSMIC:mut:99934,COSMIC:mut:10992 Cosmic_Gene G G C G G TARGET-10-PARGML-04A-01D TARGET-10-PARGML-10A-01D 7157 17 7577094 7577094 64 ALL relapse snv STAP2 silent G264G NM_017720 10-PARGML STAP2 SYNONYMOUS SNP Somatic 6 0.297 SQHIGH 10 31 41 0 102 102 Cosmic_Gene G G C G G TARGET-10-PARGML-04A-01D TARGET-10-PARGML-10A-01D 55620 19 4326976 4326976 58 ALL relapse snv OR7C1 missense K80N NM_198944 10-PARGML OR7C1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx -3 0.120 SQHIGH 8 45 53 0 83 83 Cosmic_Gene C C A C C TARGET-10-PARGML-04A-01D TARGET-10-PARGML-10A-01D 26664 19 14910709 14910709 34 ALL relapse mnv MLLT6 missense G197_A198>GG NM_005937 10-PARGML MLLT6 MISSENSE Sub Somatic -7 0.360 SQHIGH 5 14 19 1 36 37 Cosmic_Gene CGC CGC AGG CGC CGC TARGET-10-PARGML-04A-01D TARGET-10-PARGML-10A-01D 4302 17 36868138 36868140 19 ALL diagnosis snv UCK2 missense P247A NM_012474 10-PARGVZ MIR3658|UCK2 TSS-UPSTREAM|MISSENSE SNP Somatic -10 0.074 SQHIGH 8 12 20 0 13 13 Cosmic_Gene C C G C C TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 100500832|7371 1 165877013 165877013 20 ALL diagnosis snv NCKAP5 missense G1487R NM_207363 10-PARGVZ NCKAP5 INTRON,MISSENSE SNP Somatic 1 0.224 SQHIGH 6 29 35 0 34 34 C C G C C TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 344148 2 133539925 133539925 19 ALL diagnosis snv CCDC108 splice_region A339_E9splice_region NM_194302 10-PARGVZ CCDC108 ACCEPTOR SNP Somatic -4 0.128 SQHIGH 4 7 11 0 25 25 Cosmic_Gene C C G C C TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 255101 2 219895563 219895563 23 ALL diagnosis snv PTPRG silent P260P NM_002841 10-PARGVZ PTPRG SYNONYMOUS SNP Somatic 9 0.503 SQHIGH 22 24 46 0 49 49 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 5793 3 62142838 62142838 84 ALL diagnosis snv SLC35A5 missense R354K NM_017945 10-PARGVZ SLC35A5 MISSENSE SNP Somatic PFAM:PF00892:EamA PFAM:PF04142:Nuc_sug_transp 6 0.378 SQHIGH 17 11 28 1 48 49 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 55032 3 112300025 112300025 82 ALL diagnosis snv NCEH1 silent T346T NM_001146276 10-PARGVZ NCEH1 SYNONYMOUS SNP Somatic PFAM:PF07859:Abhydrolase_3 1 0.224 SQHIGH 10 30 40 0 57 57 G G T G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 57552 3 172351574 172351574 42 ALL diagnosis snv LOC100507388 EXON E1_exon NM_015393 10-PARGVZ LOC100505505|PARM1 INTRON|INTRON SNP Somatic 6 0.378 SQHIGH 15 28 43 0 36 36 Cosmic_Gene A A G A A TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 100505505|25849 4 75881623 75881623 46 ALL diagnosis snv DMP1 missense R269S NM_004407 10-PARGVZ DMP1 MISSENSE SNP Somatic PFAM:PF07263:DMP1 0 0.202 SQHIGH 14 29 43 0 44 44 Cosmic_Gene G G T G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 1758 4 88583737 88583737 48 ALL diagnosis snv NDNF missense T80M NM_024574 10-PARGVZ NDNF MISSENSE SNP Somatic 0 0.202 SQHIGH 6 15 21 0 24 24 G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 79625 4 121961159 121961159 22 ALL diagnosis snv PHIP missense R669H NM_017934 10-PARGVZ PHIP MISSENSE SNP Somatic 9 0.503 SQHIGH 10 20 30 1 23 24 Cosmic_Gene C C T C C TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 55023 6 79707982 79707982 21 ALL diagnosis snv SYNE1 nonsense R2005* NM_182961 10-PARGVZ SYNE1 NONSENSE SNP Somatic 4 0.305 SQHIGH 15 37 52 0 58 58 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 23345 6 152737559 152737559 54 ALL diagnosis snv NPBWR1 silent D180D NM_005285 10-PARGVZ NPBWR1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 -3 0.142 SQHIGH 5 11 16 0 25 25 Cosmic_Gene C C T C C TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 2831 8 53853007 53853007 22 ALL diagnosis snv PLEC silent I3496I NM_000445 10-PARGVZ PLEC SYNONYMOUS SNP Somatic PFAM:PF00681:Plectin -7 0.097 SQHIGH 6 12 18 0 19 19 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 5339 8 144993582 144993582 21 ALL diagnosis snv LAMC3 splice_region G1344_E24splice_region NM_006059 10-PARGVZ LAMC3 DONOR SNP Somatic 16 0.867 SQHIGH 15 21 36 1 53 54 Cosmic_Gene C C T C C TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 10319 9 133957552 133957552 58 ALL diagnosis snv FAM13C missense S156L NM_198215 10-PARGVZ FAM13C MISSENSE SNP Somatic 19 0.984 SQHIGH 19 7 26 0 38 38 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 220965 10 61062601 61062601 101 ALL diagnosis snv NELL1 missense I106F NM_006157 10-PARGVZ NELL1 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin 3 0.276 SQHIGH 10 16 26 0 34 34 Cosmic_Gene A A T A A TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 4745 11 20805357 20805357 42 ALL diagnosis snv DSCAML1 missense R1952Q NM_020693 10-PARGVZ DSCAML1 MISSENSE SNP Somatic 5 0.338 SQHIGH 18 13 31 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 57453 11 117301449 117301449 91 ALL diagnosis snv ASCL4 silent A20A NM_203436 10-PARGVZ ASCL4 SYNONYMOUS SNP Somatic 5 0.338 SQHIGH 9 11 20 0 21 21 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 121549 12 108169052 108169052 33 ALL diagnosis snv FOXN4 missense T482M NM_213596 10-PARGVZ FOXN4 MISSENSE SNP Somatic -1 0.179 SQHIGH 17 16 33 1 39 40 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 121643 12 109717585 109717585 61 ALL diagnosis snv TRPC4 silent A455A NM_016179 10-PARGVZ TRPC4 SYNONYMOUS SNP Somatic PFAM:PF08016:PKD_channel -28 0.013 3 16 19 0 38 38 Cosmic_Gene T T C T T TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 7223 13 38248374 38248374 15 ALL diagnosis snv MYCBP2 missense S29F NM_015057 10-PARGVZ MYCBP2 MISSENSE SNP Somatic -1 0.179 SQHIGH 5 3 8 0 12 12 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 23077 13 77900825 77900825 24 ALL diagnosis snv EDC4 silent A1230A NM_014329 10-PARGVZ EDC4|NRN1L SYNONYMOUS|TSS-UPSTREAM SNP Somatic 6 0.378 SQHIGH 13 14 27 1 45 46 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 23644|123904 16 67916921 67916921 56 ALL diagnosis snv BANP missense V122I NM_001173539 10-PARGVZ BANP INTRON,MISSENSE SNP Somatic 3 0.276 SQHIGH 19 27 46 0 48 48 G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 54971 16 88037902 88037902 69 ALL diagnosis snv CCT6B splice T242_E6splice NM_006584 10-PARGVZ CCT6B INTRON,MISSENSE SNP Somatic PFAM:PF00118:Cpn60_TCP1 -1 0.179 SQHIGH 10 17 27 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 10693 17 33269815 33269815 35 ALL diagnosis snv SMIM17 silent S71S NM_001193628 10-PARGVZ SMIM17 SYNONYMOUS SNP Somatic 11 0.601 SQHIGH 14 24 38 0 40 40 G G A G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 147670 19 57158969 57158969 50 ALL diagnosis snv GDAP1L1 missense A36V NM_024034 10-PARGVZ GDAP1L1 MISSENSE SNP Somatic 0 0.202 SQHIGH 9 15 24 0 37 37 Cosmic_Gene C C T C C TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 78997 20 42876081 42876081 41 ALL diagnosis snv ITIH6 missense E217D NM_198510 10-PARGVZ ITIH6 MISSENSE SNP Somatic 0 0.202 SQHIGH 11 46 57 0 52 52 Cosmic_Gene C C G C C TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 347365 X 54815048 54815048 33 ALL diagnosis snv CXorf57 missense D603H NM_018015 10-PARGVZ CXorf57 MISSENSE SNP Somatic -1 0.179 SQHIGH 6 24 30 0 38 38 Cosmic_Gene G G C G G TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 55086 X 105883854 105883854 23 ALL diagnosis mnv CYP26B1 missense S303T NM_019885 10-PARGVZ CYP26B1 MISSENSE Sub Somatic PFAM:PF00067:p450 -10 0.362 SQHIGH 3 7 10 0 19 19 Cosmic_Gene GC GC CG GC GC TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 56603 2 72360389 72360390 15 ALL diagnosis mnv CALB2 splice R178_E8splice NM_001740 10-PARGVZ CALB2 ACCEPTOR,INTRON Sub Somatic -5 0.508 SQHIGH 12 24 36 0 47 47 CC CC GA CC CC TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 794 16 71418238 71418239 49 ALL relapse snv UCK2 missense P247A NM_012474 10-PARGVZ MIR3658|UCK2 TSS-UPSTREAM|MISSENSE SNP Somatic -10 0.071 SQHIGH 11 13 24 0 13 13 Cosmic_Gene C C G C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 100500832|7371 1 165877013 165877013 25 ALL relapse snv CACNA1E missense R925H NM_000721 10-PARGVZ CACNA1E MISSENSE SNP Somatic 13 0.701 SQHIGH 10 13 23 0 37 37 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 777 1 181701996 181701996 48 ALL relapse snv NEK7 missense R282Q NM_133494 10-PARGVZ NEK7 MISSENSE SNP Somatic -6 0.102 SQHIGH 11 12 23 0 10 10 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 140609 1 198288588 198288588 22 ALL relapse snv LYST silent T14T NM_000081 10-PARGVZ LYST SYNONYMOUS SNP Somatic 3 0.268 SQHIGH 7 8 15 0 30 30 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 1130 1 235993676 235993676 38 ALL relapse snv NCKAP5 missense G1487R NM_207363 10-PARGVZ NCKAP5 INTRON,MISSENSE SNP Somatic 8 0.448 SQHIGH 16 10 26 0 34 34 C C G C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 344148 2 133539925 133539925 74 ALL relapse snv TTN missense S444G NM_133378 10-PARGVZ TTN MISSENSE SNP Somatic -9 0.077 SQHIGH 6 18 24 1 42 43 Cosmic_Gene T T C T T TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 7273 2 179659194 179659194 22 ALL relapse snv PPP1R1C silent R32R NM_001080545 10-PARGVZ PPP1R1C SYNONYMOUS SNP Somatic PFAM:PF05395:DARPP-32 1 0.217 SQHIGH 5 10 15 0 26 26 A A G A A TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 151242 2 182852580 182852580 24 ALL relapse snv STK36 missense A346S NM_015690 10-PARGVZ STK36 MISSENSE SNP Somatic -33 0.006 5 20 25 1 40 41 Cosmic_Gene G G T G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 27148 2 219544703 219544703 16 ALL relapse snv DES missense A285V NM_001927 10-PARGVZ DES MISSENSE SNP Somatic PFAM:PF00038:Filament 13 0.701 SQHIGH 20 24 44 0 50 50 Cosmic_Gene C C T C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 1674 2 220285335 220285335 79 ALL relapse snv PTPRG silent P260P NM_002841 10-PARGVZ PTPRG SYNONYMOUS SNP Somatic 9 0.493 SQHIGH 22 24 46 0 49 49 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 5793 3 62142838 62142838 84 ALL relapse snv SLC35A5 missense R354K NM_017945 10-PARGVZ SLC35A5 MISSENSE SNP Somatic PFAM:PF00892:EamA PFAM:PF04142:Nuc_sug_transp 6 0.369 SQHIGH 18 8 26 1 48 49 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 55032 3 112300025 112300025 96 ALL relapse snv NCEH1 silent T346T NM_001146276 10-PARGVZ NCEH1 SYNONYMOUS SNP Somatic PFAM:PF07859:Abhydrolase_3 6 0.369 SQHIGH 12 18 30 0 57 57 G G T G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 57552 3 172351574 172351574 63 ALL relapse snv LOC100507388 EXON E1_exon NM_015393 10-PARGVZ LOC100505505|PARM1 INTRON|INTRON SNP Somatic 7 0.407 SQHIGH 14 20 34 0 36 36 Cosmic_Gene A A G A A TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 100505505|25849 4 75881623 75881623 51 ALL relapse snv DMP1 missense R269S NM_004407 10-PARGVZ DMP1 MISSENSE SNP Somatic PFAM:PF07263:DMP1 1 0.217 SQHIGH 17 31 48 0 44 44 Cosmic_Gene G G T G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 1758 4 88583737 88583737 55 ALL relapse snv NDNF missense T80M NM_024574 10-PARGVZ NDNF MISSENSE SNP Somatic -4 0.123 SQHIGH 7 14 21 0 24 24 G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 79625 4 121961159 121961159 26 ALL relapse snv LRBA silent P1790P NM_006726 10-PARGVZ LRBA SYNONYMOUS SNP Somatic 5 0.329 SQHIGH 6 10 16 0 28 28 Cosmic_Gene C C T C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 987 4 151729486 151729486 29 ALL relapse snv MCTP1 splice R551_E10splice NM_024717 10-PARGVZ MCTP1 DISRUPT SNP Somatic 3 0.268 SQHIGH 16 14 30 0 32 32 Cosmic_Gene A A G A A TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 79772 5 94244954 94244954 63 ALL relapse snv KCNN2 silent G44G NM_021614 10-PARGVZ KCNN2 SYNONYMOUS SNP Somatic -9 0.077 SQHIGH 7 1 9 0 12 12 Cosmic_Gene C A A C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 3781 5 113698604 113698604 40 ALL relapse snv PHIP missense R669H NM_017934 10-PARGVZ PHIP MISSENSE SNP Somatic 13 0.701 SQHIGH 14 19 33 1 23 24 Cosmic_Gene C C T C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 55023 6 79707982 79707982 30 ALL relapse snv SYNE1 nonsense R2005* NM_182961 10-PARGVZ SYNE1 NONSENSE SNP Somatic 7 0.407 SQHIGH 19 47 66 0 58 58 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 23345 6 152737559 152737559 58 ALL relapse snv TRIM56 silent L676L NM_030961 10-PARGVZ TRIM56 SYNONYMOUS SNP Somatic 15 0.812 SQHIGH 12 23 35 0 29 29 Cosmic_Gene G G C G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 81844 7 100732621 100732621 36 ALL relapse snv NPBWR1 silent D180D NM_005285 10-PARGVZ NPBWR1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 -4 0.123 SQHIGH 4 6 10 0 25 25 Cosmic_Gene C C T C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 2831 8 53853007 53853007 24 ALL relapse snv LAMC3 splice_region G1344_E24splice_region NM_006059 10-PARGVZ LAMC3 DONOR SNP Somatic 9 0.493 SQHIGH 15 25 40 1 53 54 Cosmic_Gene C C T C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 10319 9 133957552 133957552 53 ALL relapse snv FAM13C missense S156L NM_198215 10-PARGVZ FAM13C MISSENSE SNP Somatic 17 0.915 SQHIGH 15 17 32 0 38 38 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 220965 10 61062601 61062601 61 ALL relapse snv CPXM2 missense R549H NM_198148 10-PARGVZ CPXM2 MISSENSE SNP Somatic -5 0.111 SQHIGH 17 22 39 0 38 38 Cosmic_Gene C C T C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 119587 10 125521519 125521519 60 ALL relapse snv NELL1 missense I106F NM_006157 10-PARGVZ NELL1 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin 4 0.297 SQHIGH 17 17 34 0 34 34 Cosmic_Gene A A T A A TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 4745 11 20805357 20805357 63 ALL relapse snv DSCAML1 missense R1952Q NM_020693 10-PARGVZ DSCAML1 MISSENSE SNP Somatic 5 0.329 SQHIGH 14 22 36 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 57453 11 117301449 117301449 59 ALL relapse snv KCNA1 missense V202I NM_000217 10-PARGVZ KCNA1 MISSENSE SNP Somatic -7 0.093 SQHIGH 6 33 39 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 3736 12 5021148 5021148 23 ALL relapse snv ASCL4 silent A20A NM_203436 10-PARGVZ ASCL4 SYNONYMOUS SNP Somatic 5 0.329 SQHIGH 7 7 14 0 21 21 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 121549 12 108169052 108169052 33 ALL relapse snv FOXN4 missense T482M NM_213596 10-PARGVZ FOXN4 MISSENSE SNP Somatic -1 0.174 SQHIGH 20 21 41 1 39 40 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 121643 12 109717585 109717585 61 ALL relapse snv EDC4 silent A1230A NM_014329 10-PARGVZ EDC4|NRN1L SYNONYMOUS|TSS-UPSTREAM SNP Somatic -6 0.102 SQHIGH 6 20 26 1 45 46 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 23644|123904 16 67916921 67916921 21 ALL relapse snv BANP missense V122I NM_001173539 10-PARGVZ BANP INTRON,MISSENSE SNP Somatic 3 0.268 SQHIGH 23 32 55 0 48 48 G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 54971 16 88037902 88037902 75 ALL relapse snv ARHGAP44 missense R9C NM_014859 10-PARGVZ ARHGAP44 MISSENSE SNP Somatic 2 0.241 SQHIGH 7 15 22 1 41 42 Cosmic_Gene C C T C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 9912 17 12693180 12693180 28 ALL relapse snv CCT6B splice T242_E6splice NM_006584 10-PARGVZ CCT6B INTRON,MISSENSE SNP Somatic PFAM:PF00118:Cpn60_TCP1 -10 0.071 SQHIGH 4 11 15 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 10693 17 33269815 33269815 20 ALL relapse snv EMR3 missense L601F NM_032571 10-PARGVZ EMR3 MISSENSE SNP Somatic -3 0.136 SQHIGH 3 15 18 0 36 36 Cosmic_Gene G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 84658 19 14740862 14740862 15 ALL relapse snv SMIM17 silent S71S NM_001193628 10-PARGVZ SMIM17 SYNONYMOUS SNP Somatic 11 0.592 SQHIGH 11 17 28 0 40 40 G G A G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 147670 19 57158969 57158969 49 ALL relapse snv GDAP1L1 missense A36V NM_024034 10-PARGVZ GDAP1L1 MISSENSE SNP Somatic 8 0.448 SQHIGH 10 18 28 0 37 37 Cosmic_Gene C C T C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 78997 20 42876081 42876081 41 ALL relapse snv MCM3AP missense F1389L NM_003906 10-PARGVZ MCM3AP-AS1|MCM3AP UTR|MISSENSE SNP Somatic 1 0.217 SQHIGH 10 29 39 1 29 30 Cosmic_Gene A A G A A TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 114044|8888 21 47671568 47671568 19 ALL relapse snv TFE3 missense G539A NM_006521 10-PARGVZ TFE3 MISSENSE SNP Somatic -6 0.102 SQHIGH 7 30 37 0 35 35 Cosmic_Gene C C G C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 7030 X 48887781 48887781 22 ALL relapse snv ITIH6 missense E217D NM_198510 10-PARGVZ ITIH6 MISSENSE SNP Somatic 3 0.268 SQHIGH 13 50 63 0 52 52 Cosmic_Gene C C G C C TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 347365 X 54815048 54815048 37 ALL relapse snv CXorf57 missense D603H NM_018015 10-PARGVZ CXorf57 MISSENSE SNP Somatic -4 0.123 SQHIGH 8 32 40 0 38 38 Cosmic_Gene G G C G G TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 55086 X 105883854 105883854 25 ALL relapse mnv CALB2 splice R178_E8splice NM_001740 10-PARGVZ CALB2 ACCEPTOR,INTRON Sub Somatic -6 0.465 SQHIGH 21 25 46 0 47 47 CC CC GA CC CC TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 794 16 71418238 71418239 77 ALL diagnosis snv PROC silent H411H NM_000312 10-PARHUM PROC SYNONYMOUS SNP Somatic 12 0.374 SQHIGH 25 24 49 0 46 46 C C T C C TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 5624 2 128186369 128186369 89 ALL diagnosis snv SLC4A10 missense R127H NM_022058 10-PARHUM SLC4A10 MISSENSE SNP Somatic 3 0.130 SQHIGH 14 6 20 0 23 23 COSMIC:mut:84639 Cosmic_Gene G G A G G TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 57282 2 162696401 162696401 63 ALL diagnosis snv PDE1A missense R119Q NM_005019 10-PARHUM PDE1A MISSENSE SNP Somatic PFAM:PF08499:PDEase_I_N 11 0.327 SQHIGH 15 28 43 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 5136 2 183104879 183104879 56 ALL diagnosis snv ZIC4 missense R246C NM_001168378 10-PARHUM ZIC4 TSS-UPSTREAM,MISSENSE SNP Somatic 8 0.227 SQHIGH 23 24 47 0 42 42 Cosmic_Gene G G A G G TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 84107 3 147113741 147113741 79 ALL diagnosis snv GPR116 nonsense Y1156* NM_015234 10-PARHUM GPR116 NONSENSE SNP Somatic PFAM:PF00002:7tm_2 -2 0.082 SQHIGH 8 35 43 0 44 44 Cosmic_Gene A A T A A TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 221395 6 46826172 46826172 26 ALL diagnosis snv C7orf76 missense V102E NM_001201450 10-PARHUM C7orf76 MISSENSE SNP Somatic 14 0.507 SQHIGH 26 27 53 0 53 53 A A T A A TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 401388 7 96113253 96113253 96 ALL diagnosis snv GLI4 silent V167V NM_138465 10-PARHUM GLI4 SYNONYMOUS SNP Somatic -10 0.044 SQHIGH 7 18 25 0 28 28 C C A C C TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 2738 8 144358344 144358344 25 ALL diagnosis snv GLI4 missense L198F NM_138465 10-PARHUM GLI4 MISSENSE SNP Somatic 4 0.143 SQHIGH 27 46 73 0 47 47 C C T C C TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 2738 8 144358435 144358435 69 ALL diagnosis snv TDRD1 missense V861L NM_198795 10-PARHUM TDRD1 MISSENSE SNP Somatic 8 0.227 SQHIGH 8 26 34 0 51 51 G G C G G TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 56165 10 115980413 115980413 34 ALL diagnosis snv KMT2D nonsense R2830* NM_003482 10-PARHUM KMT2D NONSENSE SNP Somatic 12 0.374 SQHIGH 25 29 54 0 35 35 Cosmic_Gene G G A G G TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 8085 12 49432651 49432651 67 ALL diagnosis snv RNF6 missense E380V NM_005977 10-PARHUM RNF6 MISSENSE SNP Somatic -9 0.048 SQHIGH 8 57 65 1 51 52 Cosmic_Gene T T A T T TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 6049 13 26788880 26788880 14 ALL diagnosis snv APBA2 silent D107D NM_005503 10-PARHUM APBA2 SYNONYMOUS SNP Somatic 12 0.374 SQHIGH 20 22 42 0 47 47 C C T C C TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 321 15 29346408 29346408 79 ALL diagnosis snv ADAMTS17 missense R528C NM_139057 10-PARHUM ADAMTS17 MISSENSE SNP Somatic 4 0.143 SQHIGH 17 15 32 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 170691 15 100672351 100672351 60 ALL diagnosis snv LMF1-AS1 EXON E2_exon NM_022773 10-PARHUM LMF1 INTRON SNP Somatic 1 0.108 SQHIGH 5 10 15 0 32 32 T T G T T TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 64788 16 971034 971034 27 ALL diagnosis snv EFCAB5 missense R1200C NM_198529 10-PARHUM EFCAB5 MISSENSE SNP Somatic 12 0.374 SQHIGH 11 27 38 0 40 40 Cosmic_Gene C C T C C TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 374786 17 28414099 28414099 38 ALL diagnosis snv CIDEA silent I68I NM_001279 10-PARHUM CIDEA SYNONYMOUS,UTR SNP dbsnp.132:rs116622808 Somatic 20 1.000 SQHIGH 17 22 39 0 37 37 Cosmic_Gene C C T C C TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 1149 18 12264326 12264326 59 ALL diagnosis snv ZFP14 missense T56S NM_020917 10-PARHUM ZFP14 MISSENSE SNP Somatic 20 1.000 SQHIGH 22 17 39 0 43 43 Cosmic_Gene G G C G G TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 57677 19 36851405 36851405 90 ALL diagnosis snv PWP2 missense R440Q NM_005049 10-PARHUM PWP2 MISSENSE SNP Somatic PFAM:PF00400:WD40 14 0.507 SQHIGH 40 33 73 0 56 56 Cosmic_Gene G G A G G TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 5822 21 45540359 45540359 128 ALL diagnosis snv TBC1D22A-AS1 EXON E8_exon NM_014346 10-PARHUM TBC1D22A|FLJ32756 INTRON|TSS-UPSTREAM SNP Somatic 8 0.227 SQHIGH 28 46 74 0 73 73 Cosmic_Gene C C T C C TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 25771|642757 22 47311920 47311920 97 ALL diagnosis snv UBE2A missense I33K NM_003336 10-PARHUM UBE2A MISSENSE SNP Somatic 5 0.157 SQHIGH 13 41 54 0 37 37 T T A T T TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 7319 X 118708917 118708917 32 ALL diagnosis snv DST missense V2352M NM_001723 10-PARIAD DST INTRON,MISSENSE SNP Somatic 5 0.169 SQHIGH 18 48 66 0 70 70 Cosmic_Gene C C T C C TARGET-10-PARIAD-03A-01D TARGET-10-PARIAD-10A-01D 667 6 56481211 56481211 63 ALL diagnosis snv ACP2 silent L351L NM_001610 10-PARIAD ACP2 SYNONYMOUS SNP Somatic -8 0.048 SQHIGH 4 39 43 0 52 52 Cosmic_Gene C C G C C TARGET-10-PARIAD-03A-01D TARGET-10-PARIAD-10A-01D 53 11 47264359 47264359 14 ALL diagnosis snv SOAT2 missense R371Q NM_003578 10-PARIAD SOAT2 MISSENSE SNP dbsnp.134:rs141175448 Somatic PFAM:PF03062:MBOAT 11 0.349 SQHIGH 14 32 46 0 57 57 Cosmic_Gene G G A G G TARGET-10-PARIAD-03A-01D TARGET-10-PARIAD-10A-01D 8435 12 53514642 53514642 55 ALL diagnosis snv KRT25 nonsense R190* NM_181534 10-PARIAD KRT25 NONSENSE SNP Somatic PFAM:PF00038:Filament -1 0.091 SQHIGH 16 36 52 1 42 43 Cosmic_Gene G G A G G TARGET-10-PARIAD-03A-01D TARGET-10-PARIAD-10A-01D 147183 17 38910213 38910213 37 ALL diagnosis snv KCNH6 missense V316I NM_030779 10-PARIAD KCNH6 MISSENSE SNP Somatic 5 0.169 SQHIGH 16 39 55 0 72 72 Cosmic_Gene G G A G G TARGET-10-PARIAD-03A-01D TARGET-10-PARIAD-10A-01D 81033 17 61611517 61611517 64 ALL diagnosis snv FCGBP missense D4873N NM_003890 10-PARIAD FCGBP MISSENSE SNP Somatic PFAM:PF00094:VWD 5 0.169 SQHIGH 18 41 59 0 47 47 Cosmic_Gene C C T C C TARGET-10-PARIAD-03A-01D TARGET-10-PARIAD-10A-01D 8857 19 40364025 40364025 52 ALL relapse snv TNFRSF4 splice_region G255_E7splice_region NM_003327 10-PARJSR TNFRSF18|TNFRSF4 TSS-UPSTREAM|ACCEPTOR SNP Somatic -10 0.052 SQHIGH 4 31 35 0 57 57 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8784|7293 1 1147012 1147012 17 ALL relapse snv PEX14 missense D263N NM_004565 10-PARJSR PEX14 MISSENSE SNP Somatic 2 0.147 SQHIGH 7 15 22 0 23 23 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5195 1 10689697 10689697 24 ALL relapse snv VPS13D missense L1173P NM_015378 10-PARJSR VPS13D MISSENSE SNP Somatic 6 0.236 SQHIGH 15 38 53 0 60 60 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55187 1 12337163 12337163 55 ALL relapse snv VPS13D silent E4144E NM_015378 10-PARJSR VPS13D SYNONYMOUS SNP Somatic 16 0.721 SQHIGH 12 25 37 0 28 28 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55187 1 12516152 12516152 33 ALL relapse snv DHRS3 missense K74E NM_004753 10-PARJSR DHRS3 MISSENSE SNP Somatic 10 0.352 SQHIGH 12 27 39 0 42 42 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9249 1 12640670 12640670 43 ALL relapse snv TCEB3 missense L59P NM_003198 10-PARJSR TCEB3 MISSENSE SNP Somatic 1 0.133 SQHIGH 20 16 36 1 32 33 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 6924 1 24075533 24075533 60 ALL relapse snv RCC1 splice_region Q118_E4splice_region NM_001048194 10-PARJSR RCC1 DONOR SNP Somatic 9 0.319 SQHIGH 11 37 48 0 53 53 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1104 1 28858505 28858505 38 ALL relapse snv IQCC splice_region K94_E1splice_region NM_001160042 10-PARJSR IQCC|LOC100652837|DCDC2B INTRON|INTRON,TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 6 0.236 SQHIGH 22 43 65 1 64 65 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55721|100652837|149069 1 32671571 32671571 64 ALL relapse snv CSMD2 missense K306T NM_052896 10-PARJSR CSMD2 MISSENSE SNP Somatic 6 0.236 SQHIGH 24 46 70 0 83 83 Cosmic_Gene T T G T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 114784 1 34291372 34291372 93 ALL relapse snv KCNQ4 missense S431G NM_004700 10-PARJSR KCNQ4 INTRON,MISSENSE SNP Somatic 1 0.133 SQHIGH 11 33 44 2 49 51 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9132 1 41289929 41289929 25 ALL relapse snv HECTD3 splice E330_E7splice NM_024602 10-PARJSR UROD|HECTD3 TSS-UPSTREAM|DISRUPT SNP Somatic 11 0.390 SQHIGH 15 32 47 0 74 74 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7389|79654 1 45474900 45474900 69 ALL relapse snv LRP8 missense T352N NM_004631 10-PARJSR LRP8 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 16 0.721 SQHIGH 31 38 69 0 95 95 G G T G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7804 1 53736970 53736970 138 ALL relapse snv RPAP2 splice_region R163_E7splice_region NM_024813 10-PARJSR RPAP2 ACCEPTOR SNP Somatic 15 0.653 SQHIGH 12 25 37 0 41 41 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 79871 1 92786151 92786151 44 ALL relapse snv WARS2 missense Y52C NM_015836 10-PARJSR WARS2 MISSENSE SNP Somatic 11 0.390 SQHIGH 11 21 32 0 43 43 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10352 1 119619166 119619166 46 ALL relapse snv ANKRD34A silent P166P NM_001039888 10-PARJSR POLR3GL|LIX1L|ANKRD34A TSS-UPSTREAM|TSS-UPSTREAM|SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 12 31 43 0 44 44 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84265|128077|284615 1 145473826 145473826 41 ALL relapse snv CERS2 missense I154T NM_181746 10-PARJSR CERS2 MISSENSE SNP Somatic PFAM:PF03798:TRAM_LAG1_CLN8 10 0.352 SQHIGH 29 33 62 2 61 63 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 29956 1 150940303 150940303 84 ALL relapse snv CHTOP missense I108T NM_015607 10-PARJSR CHTOP MISSENSE SNP Somatic 13 0.488 SQHIGH 18 31 49 0 71 71 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 26097 1 153614825 153614825 80 ALL relapse snv THBS3 missense Y295C NM_007112 10-PARJSR THBS3|LOC100129268 MISSENSE|INTRON,TSS-UPSTREAM SNP Somatic 12 0.436 SQHIGH 16 30 46 0 67 67 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7059|100129268 1 155172676 155172676 70 ALL relapse snv YY1AP1 silent E759E NM_139118 10-PARJSR YY1AP1 UTR3,SYNONYMOUS SNP Somatic 14 0.560 SQHIGH 20 29 49 1 73 74 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55249 1 155629562 155629562 81 ALL relapse snv LMNA missense K316N NM_170707 10-PARJSR LMNA MISSENSE SNP Somatic PFAM:PF00038:Filament 15 0.653 SQHIGH 10 19 29 0 36 36 Cosmic_Gene G G T G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 4000 1 156105703 156105703 40 ALL relapse snv CACNA1E missense V1085M NM_000721 10-PARJSR CACNA1E MISSENSE SNP Somatic -3 0.092 SQHIGH 6 42 48 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 777 1 181702877 181702877 18 ALL relapse snv RGSL1 missense I346V NM_001137669 10-PARJSR RGSL1 MISSENSE SNP Somatic 7 0.265 SQHIGH 12 34 46 0 73 73 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 353299 1 182443282 182443282 54 ALL relapse snv KDM5B silent D1280D NM_006618 10-PARJSR KDM5B SYNONYMOUS SNP Somatic 14 0.560 SQHIGH 9 25 34 0 51 51 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10765 1 202702598 202702598 39 ALL relapse snv RPS6KC1 silent S199S NM_012424 10-PARJSR RPS6KC1 SYNONYMOUS SNP Somatic 16 0.721 SQHIGH 14 22 36 0 34 34 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 26750 1 213302994 213302994 47 ALL relapse snv CDC42BPA missense S1033G NM_014826 10-PARJSR CDC42BPA MISSENSE SNP Somatic 8 0.290 SQHIGH 15 27 42 0 34 34 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8476 1 227222387 227222387 45 ALL relapse snv BRE-AS1 EXON E1_exon NM_004899 10-PARJSR BRE|RBKS|LOC100302650 UTR5|TSS-UPSTREAM|UTR SNP Somatic 0 0.121 SQHIGH 10 22 32 0 22 22 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9577|64080|100302650 2 28113637 28113637 26 ALL relapse snv RAB1A missense V133A NM_004161 10-PARJSR RAB1A INTRON,MISSENSE SNP Somatic 6 0.236 SQHIGH 17 35 52 0 74 74 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5861 2 65316095 65316095 73 ALL relapse snv ACMSD missense A154V NM_138326 10-PARJSR ACMSD MISSENSE SNP Somatic PFAM:PF02126:PTE -9 0.056 SQHIGH 7 37 44 0 44 44 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 130013 2 135621176 135621176 22 ALL relapse snv FSIP2 missense N5658D NM_173651 10-PARJSR FSIP2 MISSENSE SNP Somatic 1 0.133 SQHIGH 10 30 40 1 29 30 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 401024 2 186670738 186670738 19 ALL relapse snv NRP2 missense I418V NM_201266 10-PARJSR NRP2 MISSENSE SNP Somatic 17 0.845 SQHIGH 10 19 29 0 41 41 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8828 2 206605348 206605348 43 ALL relapse snv CPO missense Q327R NM_173077 10-PARJSR CPO MISSENSE SNP Somatic 6 0.236 SQHIGH 14 39 53 2 56 58 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 130749 2 207834015 207834015 33 ALL relapse snv IDH1 missense R132C NM_005896 10-PARJSR IDH1 MISSENSE SNP dbsnp.133:rs121913499 Somatic PFAM:PF00180:Iso_dh 13 0.488 SQHIGH 27 37 64 1 58 59 COSMIC:mut:28747 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 3417 2 209113113 209113113 79 ALL relapse snv RBM44 missense W511R NM_001080504 10-PARJSR RBM44 MISSENSE SNP Somatic 0 0.121 SQHIGH 12 32 44 0 34 34 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 375316 2 238727090 238727090 33 ALL relapse snv EOMES missense N500S NM_005442 10-PARJSR EOMES MISSENSE SNP Somatic 8 0.290 SQHIGH 10 25 35 1 43 44 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8320 3 27759123 27759123 30 ALL relapse snv COL7A1 missense A327V NM_000094 10-PARJSR COL7A1 MISSENSE SNP Somatic 0 0.121 SQHIGH 9 28 37 0 41 41 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1294 3 48629897 48629897 32 ALL relapse snv AMIGO3 missense L164P NM_198722 10-PARJSR AMIGO3|RNF123 MISSENSE|INTRON SNP Somatic 12 0.436 SQHIGH 21 17 38 0 41 41 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 386724|63891 3 49756408 49756408 84 ALL relapse snv VPRBP silent G929G NM_014703 10-PARJSR VPRBP SYNONYMOUS SNP Somatic 11 0.390 SQHIGH 18 25 43 0 51 51 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9730 3 51457478 51457478 72 ALL relapse snv KIAA1407 missense Y366C NM_020817 10-PARJSR KIAA1407 MISSENSE SNP Somatic 6 0.236 SQHIGH 10 16 26 0 31 31 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 57577 3 113737591 113737591 39 ALL relapse snv HPS3 missense S399G NM_032383 10-PARJSR HPS3 MISSENSE SNP Somatic 3 0.163 SQHIGH 7 18 25 0 33 33 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84343 3 148868417 148868417 28 ALL relapse snv SHOX2 missense H287R NM_003030 10-PARJSR SHOX2 MISSENSE SNP Somatic 13 0.488 SQHIGH 10 16 26 0 47 47 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 6474 3 157816024 157816024 51 ALL relapse snv CHRD silent T844T NM_003741 10-PARJSR CHRD SYNONYMOUS SNP Somatic PFAM:PF00093:VWC 6 0.236 SQHIGH 9 19 28 0 26 26 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8646 3 184105799 184105799 29 ALL relapse snv LMLN missense E238G NM_001136049 10-PARJSR LMLN MISSENSE,UTR SNP Somatic PFAM:PF01457:Peptidase_M8 16 0.721 SQHIGH 11 19 30 0 41 41 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 89782 3 197707360 197707360 47 ALL relapse snv CTBP1 silent T50T NM_001328 10-PARJSR CTBP1 SYNONYMOUS SNP Somatic 12 0.436 SQHIGH 14 31 45 0 44 44 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1487 4 1232016 1232016 47 ALL relapse snv CRMP1 silent A95A NM_001014809 10-PARJSR CRMP1|LOC100507292 SYNONYMOUS,TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 4 0.181 SQHIGH 5 6 11 0 19 19 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1400|100507292 4 5894412 5894412 25 ALL relapse snv ACOX3 splice_region Q393_E10splice_region NM_003501 10-PARJSR ACOX3 DONOR SNP Somatic 6 0.236 SQHIGH 15 42 57 0 65 65 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8310 4 8396343 8396343 54 ALL relapse snv MANBA silent S712S NM_005908 10-PARJSR MANBA SYNONYMOUS SNP dbsnp.134:rs149687835 Somatic -2 0.101 SQHIGH 8 39 47 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 4126 4 103557043 103557043 29 ALL relapse snv NAA15 missense Y378H NM_057175 10-PARJSR NAA15 MISSENSE SNP Somatic 10 0.352 SQHIGH 10 12 22 0 22 22 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 80155 4 140278584 140278584 36 ALL relapse snv ANKRD33B missense R368H NM_001164440 10-PARJSR ANKRD33B MISSENSE SNP Somatic 4 0.181 SQHIGH 15 26 41 0 20 20 G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 651746 5 10649843 10649843 30 ALL relapse snv CDH10 missense E65G NM_006727 10-PARJSR CDH10 MISSENSE SNP Somatic 4 0.181 SQHIGH 13 27 40 0 30 30 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1008 5 24593406 24593406 36 ALL relapse snv C6 silent L540L NM_000065 10-PARJSR C6 SYNONYMOUS SNP dbsnp.132:rs113828365 Somatic 9 0.319 SQHIGH 8 28 36 0 44 44 Cosmic_Gene C C G C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 729 5 41160308 41160308 30 ALL relapse snv HCN1 silent A471A NM_021072 10-PARJSR HCN1 SYNONYMOUS SNP Somatic 4 0.181 SQHIGH 15 33 48 1 25 26 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 348980 5 45303906 45303906 23 ALL relapse snv ST8SIA4 missense Q65R NM_005668 10-PARJSR ST8SIA4 MISSENSE SNP Somatic -4 0.085 SQHIGH 6 27 33 0 23 23 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7903 5 100231409 100231409 15 ALL relapse snv JADE2 silent A734A NM_015288 10-PARJSR JADE2 SYNONYMOUS SNP Somatic 0 0.121 SQHIGH 10 47 57 1 49 50 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23338 5 133914836 133914836 21 ALL relapse snv PCDHA7 silent T634T NM_018910 10-PARJSR PCDHA4|PCDHA1|PCDHA5|PCDHA6|PCDHA7|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|INTRON SNP Somatic 10 0.352 SQHIGH 15 34 49 0 42 42 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 56144|56147|56143|56142|56141|56145|56146 5 140215870 140215870 45 ALL relapse snv DIAPH1 missense R379Q NM_005219 10-PARJSR DIAPH1 MISSENSE SNP Somatic PFAM:PF06367:Drf_FH3 8 0.290 SQHIGH 21 38 59 0 65 65 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1729 5 140957819 140957819 78 ALL relapse snv EBF1 missense E303G NM_024007 10-PARJSR EBF1 MISSENSE SNP Somatic 7 0.265 SQHIGH 19 55 74 0 62 62 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1879 5 158223354 158223354 55 ALL relapse snv GABRP missense R141H NM_014211 10-PARJSR GABRP MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 2 0.147 SQHIGH 12 52 64 2 68 70 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 2568 5 170222393 170222393 26 ALL relapse snv SYCP2L splice_region E786_E28splice_region NM_001040274 10-PARJSR SYCP2L ACCEPTOR SNP Somatic 3 0.163 SQHIGH 9 35 44 0 27 27 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 221711 6 10961727 10961727 20 ALL relapse snv C4B missense M1281L NM_001002029 10-PARJSR C4B MISSENSE SNP Somatic PFAM:PF07678:A2M_comp -8 0.060 SQHIGH 7 46 53 0 44 44 A A T A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 721 6 31997507 31997507 19 ALL relapse snv TNXB missense L2045P NM_019105 10-PARJSR TNXB MISSENSE SNP Somatic PFAM:PF00041:fn3 6 0.236 SQHIGH 26 52 78 1 91 92 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7148 6 32036253 32036253 87 ALL relapse snv HLA-DRB1 silent R52R NM_002124 10-PARJSR HLA-DRB1 SYNONYMOUS SNP Somatic PFAM:PF00969:MHC_II_beta 7 0.265 SQHIGH 6 21 27 1 42 43 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 3123 6 32552100 32552100 19 ALL relapse snv SYNGAP1 missense Y116H NM_006772 10-PARJSR SYNGAP1 MISSENSE SNP Somatic 15 0.653 SQHIGH 10 17 27 0 29 29 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8831 6 33399988 33399988 36 ALL relapse snv FOXP4 missense L317P NM_001012426 10-PARJSR FOXP4 MISSENSE SNP Somatic 5 0.200 SQHIGH 8 30 38 0 31 31 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 116113 6 41555608 41555608 22 ALL relapse snv MDFI missense S197P NM_005586 10-PARJSR MDFI MISSENSE SNP Somatic -8 0.060 SQHIGH 8 12 20 0 9 9 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 4188 6 41621161 41621161 15 ALL relapse snv PGC missense Y371H NM_002630 10-PARJSR TFEB|PGC TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00026:Asp 8 0.290 SQHIGH 19 54 73 0 61 61 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7942|5225 6 41704646 41704646 55 ALL relapse snv C6orf132 missense Q941R NM_001164446 10-PARJSR C6orf132 MISSENSE SNP Somatic 5 0.200 SQHIGH 6 23 29 0 37 37 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 647024 6 42072828 42072828 23 ALL relapse snv ZNF318 missense R1771G NM_014345 10-PARJSR ZNF318 MISSENSE SNP Somatic 6 0.236 SQHIGH 18 57 75 1 90 91 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 24149 6 43306425 43306425 57 ALL relapse snv AARS2 silent G570G NM_020745 10-PARJSR AARS2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 17 50 67 0 48 48 Cosmic_Gene G G C G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 57505 6 44272424 44272424 44 ALL relapse snv SEC63 missense V398L NM_007214 10-PARJSR SEC63 MISSENSE SNP Somatic 19 0.948 SQHIGH 15 23 38 0 41 41 Cosmic_Gene C C G C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 11231 6 108224065 108224065 55 ALL relapse snv ZUFSP missense I285M NM_145062 10-PARJSR ZUFSP MISSENSE SNP Somatic 1 0.133 SQHIGH 10 12 22 0 18 18 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 221302 6 116977953 116977953 31 ALL relapse snv ESR1 splice_region R151_E2splice_region NM_000125 10-PARJSR ESR1 ACCEPTOR SNP Somatic -4 0.085 SQHIGH 12 31 43 0 52 52 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 2099 6 152163723 152163723 46 ALL relapse snv GPER1 missense I85T NM_001505 10-PARJSR C7orf50|GPER INTRON|MISSENSE SNP Somatic PFAM:PF00001:7tm_1 15 0.653 SQHIGH 37 22 59 0 60 60 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84310|2852 7 1131618 1131618 150 ALL relapse snv TNRC18 silent R2814R NM_001080495 10-PARJSR TNRC18 SYNONYMOUS SNP Somatic 13 0.488 SQHIGH 34 15 49 0 44 44 G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84629 7 5348946 5348946 133 ALL relapse snv ZNF12 silent G667G NM_016265 10-PARJSR ZNF12 SYNONYMOUS SNP Somatic -1 0.111 SQHIGH 15 22 37 0 40 40 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7559 7 6730572 6730572 56 ALL relapse snv IKZF1 missense L177P NM_006060 10-PARJSR IKZF1 INTRON,TSS-UPSTREAM,MISSENSE SNP Somatic 15 0.653 SQHIGH 35 22 57 0 77 77 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10320 7 50450346 50450346 168 ALL relapse snv EGFR-AS1 EXON E19_exon NM_005228 10-PARJSR EGFR|LOC100507500 INTRON|UTR SNP Somatic 7 0.265 SQHIGH 29 44 74 0 67 67 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1956|100507500 7 55247539 55247539 97 ALL relapse snv TMEM248 nonsense *315Q NM_017994 10-PARJSR C7orf42 NONSTOP SNP Somatic 10 0.352 SQHIGH 18 28 46 1 48 49 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55069 7 66420507 66420507 55 ALL relapse snv ZNF804B missense Y801H NM_181646 10-PARJSR ZNF804B MISSENSE SNP Somatic 6 0.236 SQHIGH 16 34 50 0 55 55 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 219578 7 88964697 88964697 58 ALL relapse snv CPSF4 silent N194N NM_006693 10-PARJSR ATP5J2-PTCD1|CPSF4 INTRON|SYNONYMOUS,INTRON SNP Somatic 20 0.999 SQHIGH 28 11 39 0 69 69 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 100526740|10898 7 99051600 99051600 166 ALL relapse snv CTTNBP2 silent D952D NM_033427 10-PARJSR CTTNBP2 SYNONYMOUS SNP Somatic 0 0.121 SQHIGH 9 31 40 0 50 50 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 83992 7 117407153 117407153 34 ALL relapse snv CPA1 silent A31A NM_001868 10-PARJSR CPA1 SYNONYMOUS SNP Somatic PFAM:PF02244:Propep_M14 -4 0.085 SQHIGH 11 55 66 0 90 90 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1357 7 130020966 130020966 43 ALL relapse snv ASIC3 silent A196A NM_004769 10-PARJSR ASIC3 SYNONYMOUS SNP Somatic PFAM:PF00858:ASC 18 0.885 SQHIGH 16 23 39 1 57 58 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9311 7 150747246 150747246 62 ALL relapse snv CSMD1 missense G2441V NM_033225 10-PARJSR CSMD1 MISSENSE SNP Somatic PFAM:PF00084:Sushi 15 0.653 SQHIGH 25 16 41 0 41 41 Cosmic_Gene C C A C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 64478 8 2944771 2944771 99 ALL relapse snv CSMD1 missense I1570V NM_033225 10-PARJSR CSMD1 MISSENSE SNP Somatic PFAM:PF00084:Sushi 2 0.147 SQHIGH 9 33 42 1 49 50 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 64478 8 3072178 3072178 25 ALL relapse snv CLDN23 silent S260S NM_194284 10-PARJSR CLDN23 SYNONYMOUS SNP Somatic 2 0.147 SQHIGH 6 16 22 0 18 18 G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 137075 8 8560688 8560688 17 ALL relapse snv EIF4EBP1 missense P72S NM_004095 10-PARJSR EIF4EBP1 MISSENSE SNP Somatic PFAM:PF05456:eIF_4EBP 4 0.181 SQHIGH 23 65 88 0 85 85 C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1978 8 37914667 37914667 75 ALL relapse snv ZFPM2-AS1 EXON E5_exon NM_012082 10-PARJSR ZFPM2 INTRON SNP Somatic 9 0.319 SQHIGH 10 34 44 0 48 48 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23414 8 106792697 106792697 35 ALL relapse snv MTSS1 missense S370P NM_001282974 10-PARJSR MTSS1 INTRON SNP Somatic 6 0.236 SQHIGH 17 36 53 0 63 63 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9788 8 125571001 125571001 65 ALL relapse snv MTSS1 missense M267V NM_014751 10-PARJSR MTSS1 MISSENSE SNP Somatic -1 0.111 SQHIGH 17 36 53 0 32 32 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9788 8 125577928 125577928 40 ALL relapse snv NRBP2 missense I181T NM_178564 10-PARJSR NRBP2 MISSENSE SNP Somatic -2 0.101 SQHIGH 8 36 44 0 38 38 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 340371 8 144921524 144921524 23 ALL relapse snv CD274 missense N236S NM_014143 10-PARJSR CD274 MISSENSE SNP Somatic 10 0.352 SQHIGH 12 35 47 0 48 48 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 29126 9 5465523 5465523 40 ALL relapse snv NFX1 splice_region V782_E14splice_region NM_002504 10-PARJSR NFX1 DONOR SNP Somatic 12 0.436 SQHIGH 16 19 35 0 36 36 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 4799 9 33344192 33344192 59 ALL relapse snv FAM205A missense S84G NM_001141917 10-PARJSR FAM205A MISSENSE SNP Somatic 5 0.200 SQHIGH 17 45 62 0 83 83 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 259308 9 34728020 34728020 69 ALL relapse snv GCNT1 silent P337P NM_001097634 10-PARJSR GCNT1 SYNONYMOUS SNP Somatic PFAM:PF02485:Branch 12 0.436 SQHIGH 20 29 49 0 57 57 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 2650 9 79118308 79118308 78 ALL relapse snv SLC27A4 splice_region F54_E2splice_region NM_005094 10-PARJSR SLC27A4 DONOR SNP Somatic 11 0.390 SQHIGH 27 38 65 2 65 67 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10999 9 131105576 131105576 76 ALL relapse snv HMCN2 splice_region W3447_E69splice_region NM_001291815 10-PARJSR SNP Somatic 6 0.236 SQHIGH 17 35 52 1 65 66 G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9 133279122 133279122 57 ALL relapse snv FIBCD1 missense F404L NM_032843 10-PARJSR FIBCD1 MISSENSE SNP Somatic 6 0.236 SQHIGH 15 35 50 0 56 56 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84929 9 133779627 133779627 55 ALL relapse snv RALGDS missense E646G NM_006266 10-PARJSR RALGDS MISSENSE SNP Somatic 8 0.290 SQHIGH 16 19 35 0 40 40 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5900 9 135977935 135977935 63 ALL relapse snv FAM69B missense Y309H NM_152421 10-PARJSR FAM69B MISSENSE SNP Somatic PFAM:PF12260:PIP49_C 14 0.560 SQHIGH 9 23 32 0 37 37 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 138311 9 139617855 139617855 33 ALL relapse snv ABCA2 silent A1288A NM_001606 10-PARJSR ABCA2 SYNONYMOUS SNP Somatic 0 0.121 SQHIGH 7 20 27 0 37 37 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 20 9 139909383 139909383 28 ALL relapse snv RBM17 splice L188_E7splice NM_032905 10-PARJSR RBM17 ACCEPTOR SNP Somatic 7 0.265 SQHIGH 17 46 63 0 55 55 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84991 10 6151946 6151946 51 ALL relapse snv ITIH2 missense I377V NM_002216 10-PARJSR ITIH2 MISSENSE SNP Somatic 6 0.236 SQHIGH 17 46 63 0 53 53 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 3698 10 7769057 7769057 50 ALL relapse snv CELF2 splice G60_E2splice NM_001025076 10-PARJSR CELF2 DISRUPT SNP Somatic 6 0.236 SQHIGH 17 44 61 0 49 49 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10659 10 11207647 11207647 49 ALL relapse snv MPP7 silent K258K NM_173496 10-PARJSR MPP7 SYNONYMOUS SNP Somatic 7 0.265 SQHIGH 19 39 58 0 43 43 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 143098 10 28409236 28409236 52 ALL relapse snv MTPAP splice D407_E7splice NM_018109 10-PARJSR MTPAP ACCEPTOR SNP Somatic 3 0.163 SQHIGH 18 38 56 0 37 37 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55149 10 30605142 30605142 45 ALL relapse snv RUFY2 silent E391E NM_017987 10-PARJSR RUFY2 SYNONYMOUS SNP Somatic -1 0.111 SQHIGH 8 38 46 0 39 39 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55680 10 70141028 70141028 23 ALL relapse snv COL13A1 splice_region G134_E5splice_region NM_001130103 10-PARJSR COL13A1 ACCEPTOR,INTRON SNP Somatic 7 0.265 SQHIGH 36 37 73 0 76 76 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1305 10 71634876 71634876 137 ALL relapse snv LCOR splice D80_E7splice NM_032440 10-PARJSR LCOR MISSENSE SNP Somatic -2 0.101 SQHIGH 10 26 36 0 17 17 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84458 10 98711860 98711860 19 ALL relapse snv C10orf12 missense M408T NM_015652 10-PARJSR C10orf12 MISSENSE SNP Somatic 0 0.121 SQHIGH 9 47 56 1 52 53 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 26148 10 98742370 98742370 20 ALL relapse snv RRP12 missense R1138W NM_015179 10-PARJSR RRP12 MISSENSE SNP Somatic 5 0.200 SQHIGH 16 54 70 0 48 49 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23223 10 99125970 99125970 40 ALL relapse snv SORCS3-AS1 EXON E1_exon NM_014978 10-PARJSR SORCS3|LOC100505890 INTRON|UTR SNP Somatic 20 0.999 SQHIGH 17 19 36 0 43 43 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 22986|100505890 10 106425350 106425350 70 ALL relapse snv GRK5 splice L423_E13splice NM_005308 10-PARJSR GRK5 DISRUPT SNP Somatic 14 0.560 SQHIGH 42 44 86 1 60 61 Cosmic_Gene A A C A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 2869 10 121207633 121207633 108 ALL relapse snv IGF2-AS EXON E4_exon NM_001042376 10-PARJSR IGF2-AS|INS-IGF2|IGF2 INTRON,UTR|INTRON|INTRON SNP Somatic 6 0.236 SQHIGH 25 46 71 0 68 68 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 51214|723961|3481 11 2168195 2168195 84 ALL relapse snv KCNQ1OT1 EXON E10_exon NM_000218 10-PARJSR KCNQ1 INTRON SNP Somatic 1 0.133 SQHIGH 8 30 38 0 34 34 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 3784 11 2631919 2631919 24 ALL relapse snv PGAP2 silent H65H NM_001256235 10-PARJSR PGAP2 INTRON,UTR SNP Somatic 8 0.290 SQHIGH 19 56 75 0 49 49 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 27315 11 3844199 3844199 46 ALL relapse snv OR51I1 missense P8T NM_001005288 10-PARJSR OR51I1 MISSENSE SNP Somatic 8 0.290 SQHIGH 23 60 83 0 66 66 Cosmic_Gene G G T G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 390063 11 5462723 5462723 65 ALL relapse snv AMPD3 missense V694A NM_000480 10-PARJSR AMPD3 MISSENSE SNP Somatic 4 0.181 SQHIGH 13 64 77 1 65 66 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 272 11 10526133 10526133 28 ALL relapse snv MRVI1 missense E449G NM_001098579 10-PARJSR MRVI1 MISSENSE SNP Somatic PFAM:PF05781:MRVI1 0 0.121 SQHIGH 38 77 115 0 107 107 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10335 11 10645402 10645402 124 ALL relapse snv MICALCL silent I563I NM_032867 10-PARJSR MICALCL SYNONYMOUS SNP Somatic PFAM:PF12130:DUF3585 -1 0.111 SQHIGH 10 60 70 0 53 53 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84953 11 12348773 12348773 26 ALL relapse snv BTBD10 splice_region D230_E6splice_region NM_032320 10-PARJSR BTBD10 ACCEPTOR SNP Somatic -4 0.085 SQHIGH 7 33 40 0 30 30 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84280 11 13435206 13435206 18 ALL relapse snv SAA2 missense A91V NM_030754 10-PARJSR SAA2-SAA4|SAA2 INTRON|INTRON,MISSENSE SNP dbsnp.134:rs143672526 Somatic PFAM:PF00277:SAA 2 0.147 SQHIGH 13 43 56 0 76 76 G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 100528017|6289 11 18267021 18267021 52 ALL relapse snv PDHX splice R181_E5splice NM_003477 10-PARJSR PDHX DISRUPT,INTRON SNP Somatic -6 0.072 SQHIGH 10 9 19 0 14 14 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8050 11 34981965 34981965 30 ALL relapse snv PRDM11 missense Y896H NM_001256695 10-PARJSR SNP Somatic 17 0.845 SQHIGH 16 11 27 0 29 29 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 11 45248862 45248862 65 ALL relapse snv AGBL2 splice_region E196_E7splice_region NM_024783 10-PARJSR AGBL2 DONOR SNP Somatic 12 0.436 SQHIGH 16 32 48 1 37 38 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 79841 11 47726090 47726090 36 ALL relapse snv FNBP4 silent P908P NM_015308 10-PARJSR FNBP4 SYNONYMOUS SNP Somatic -6 0.072 SQHIGH 12 18 30 0 28 28 Cosmic_Gene T T A T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23360 11 47744609 47744609 40 ALL relapse snv OR4X1 silent P259P NM_001004726 10-PARJSR OR4X1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 7 0.265 SQHIGH 20 37 57 0 75 75 Cosmic_Gene C C A C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 390113 11 48286189 48286189 83 ALL relapse snv SSRP1 missense L520P NM_003146 10-PARJSR TNKS1BP1|SSRP1 TSS-UPSTREAM|MISSENSE SNP Somatic 2 0.147 SQHIGH 30 58 88 2 85 87 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 85456|6749 11 57095823 57095823 80 ALL relapse snv HNRNPUL2 silent G286G NM_001079559 10-PARJSR HNRNPUL2|HNRNPUL2-BSCL2|TTC9C SYNONYMOUS|UTR|TSS-UPSTREAM SNP Somatic 8 0.290 SQHIGH 16 57 73 0 64 64 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 221092|100534595|283237 11 62491092 62491092 47 ALL relapse snv SCYL1 missense Y458H NM_020680 10-PARJSR SCYL1 MISSENSE SNP Somatic 5 0.200 SQHIGH 32 75 107 0 75 75 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 57410 11 65302839 65302839 84 ALL relapse snv SART1 missense Y691C NM_005146 10-PARJSR SART1 MISSENSE SNP Somatic PFAM:PF03343:SART-1 4 0.181 SQHIGH 15 44 59 0 67 67 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9092 11 65745270 65745270 54 ALL relapse snv LRFN4 missense N58S NM_024036 10-PARJSR LRFN4|PC MISSENSE|INTRON SNP Somatic 6 0.236 SQHIGH 16 41 57 1 59 60 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 78999|5091 11 66625388 66625388 45 ALL relapse snv LRP5 missense C263R NM_002335 10-PARJSR LRP5 MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b 8 0.290 SQHIGH 12 29 41 0 32 32 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 4041 11 68131315 68131315 34 ALL relapse snv ARHGEF17 silent H215H NM_014786 10-PARJSR LOC100287837|ARHGEF17 SYNONYMOUS|SYNONYMOUS SNP Somatic 3 0.163 SQHIGH 13 34 47 0 39 39 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 100287837|9828 11 73020328 73020328 38 ALL relapse snv ARHGEF17 silent P439P NM_014786 10-PARJSR LOC100287837|ARHGEF17 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 7 0.265 SQHIGH 17 58 75 1 54 55 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 100287837|9828 11 73021000 73021000 35 ALL relapse snv ACER3 silent L187L NM_018367 10-PARJSR ACER3 SYNONYMOUS SNP Somatic PFAM:PF05875:Ceramidase -6 0.072 SQHIGH 10 13 23 0 15 15 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55331 11 76726123 76726123 26 ALL relapse snv USP35 missense W418R NM_020798 10-PARJSR USP35 MISSENSE SNP Somatic -8 0.060 SQHIGH 5 33 38 0 39 39 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 57558 11 77916942 77916942 16 ALL relapse snv SIK2 missense T549A NM_015191 10-PARJSR SIK2 MISSENSE SNP Somatic 6 0.236 SQHIGH 16 36 52 0 53 53 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23235 11 111591351 111591351 55 ALL relapse snv NRIP2 missense R138Q NM_031474 10-PARJSR NRIP2 MISSENSE SNP Somatic 5 0.200 SQHIGH 18 32 50 2 50 52 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 83714 12 2939956 2939956 45 ALL relapse snv CCND2 missense L289P NM_001759 10-PARJSR CCND2 MISSENSE SNP Somatic 18 0.885 SQHIGH 13 22 35 0 38 38 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 894 12 4409171 4409171 48 ALL relapse snv FGF23 missense I102V NM_020638 10-PARJSR FGF23 MISSENSE SNP Somatic -1 0.111 SQHIGH 19 32 51 0 51 51 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8074 12 4481771 4481771 66 ALL relapse snv TNFRSF1A missense E438G NM_001065 10-PARJSR TNFRSF1A MISSENSE SNP Somatic 6 0.236 SQHIGH 10 18 28 1 29 30 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7132 12 6438533 6438533 27 ALL relapse snv PTPN6 silent N333N NM_002831 10-PARJSR PTPN6 SYNONYMOUS SNP Somatic 12 0.436 SQHIGH 13 24 37 0 49 49 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5777 12 7065656 7065656 54 ALL relapse snv ACSM4 silent A174A NM_001080454 10-PARJSR ACSM4 SYNONYMOUS SNP Somatic 2 0.147 SQHIGH 6 19 25 0 48 49 G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 341392 12 7463244 7463244 30 ALL relapse snv KLRG1 missense T162R NM_005810 10-PARJSR KLRG1 MISSENSE SNP Somatic 6 0.236 SQHIGH 18 34 52 0 62 62 Cosmic_Gene C C G C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10219 12 9162048 9162048 70 ALL relapse snv LRP6 missense S1280G NM_002336 10-PARJSR LRP6 MISSENSE SNP Somatic 16 0.721 SQHIGH 10 17 27 0 27 27 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 4040 12 12284887 12284887 35 ALL relapse snv DUSP16 silent S508S NM_030640 10-PARJSR DUSP16 SYNONYMOUS SNP Somatic -2 0.101 SQHIGH 7 40 47 0 54 54 G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 80824 12 12630241 12630241 24 ALL relapse snv ATG101 missense L22V NM_021934 10-PARJSR ATG101 MISSENSE SNP Somatic PFAM:PF07855:DUF1649 10 0.352 SQHIGH 14 33 47 0 38 38 C C G C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 60673 12 52467498 52467498 40 ALL relapse snv EIF4B silent G216G NM_001417 10-PARJSR EIF4B SYNONYMOUS SNP Somatic 14 0.560 SQHIGH 16 26 42 0 54 54 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1975 12 53416392 53416392 66 ALL relapse snv C12orf10 missense A288V NM_021640 10-PARJSR C12orf10 MISSENSE SNP Somatic PFAM:PF03690:UPF0160 4 0.181 SQHIGH 24 47 71 0 83 83 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 60314 12 53700561 53700561 92 ALL relapse snv ZNF385A missense S75P NM_001130967 10-PARJSR ZNF385A MISSENSE SNP Somatic 5 0.200 SQHIGH 25 42 67 0 78 78 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 25946 12 54769663 54769663 97 ALL relapse snv INHBC missense G24S NM_005538 10-PARJSR INHBC MISSENSE SNP dbsnp.134:rs140503654 Somatic 2 0.147 SQHIGH 8 34 42 0 49 49 G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 3626 12 57828739 57828739 29 ALL relapse snv ATP2A2 splice G211_E8splice NM_001681 10-PARJSR ATP2A2 DISRUPT SNP Somatic 8 0.290 SQHIGH 9 19 28 1 42 43 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 488 12 110765356 110765356 32 ALL relapse snv ATP2A2 missense N421D NM_001681 10-PARJSR ATP2A2 MISSENSE SNP Somatic 6 0.236 SQHIGH 18 38 56 0 63 63 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 488 12 110771062 110771062 66 ALL relapse snv RNF34 missense M1T NM_194271 10-PARJSR RNF34 MISSTART,INTRON SNP Somatic 13 0.488 SQHIGH 10 21 31 0 43 43 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 80196 12 121840603 121840603 42 ALL relapse snv POLE silent A781A NM_006231 10-PARJSR POLE SYNONYMOUS SNP Somatic 1 0.133 SQHIGH 9 23 32 1 45 46 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5426 12 133242013 133242013 30 ALL relapse snv FLT3 missense L576P NM_004119 10-PARJSR FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 6 0.236 SQHIGH 15 35 50 0 66 66 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 2322 13 28608329 28608329 61 ALL relapse snv MCF2L missense R928L NM_001112732 10-PARJSR MCF2L MISSENSE SNP Somatic 7 0.265 SQHIGH 12 30 42 0 43 43 Cosmic_Gene G G T G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23263 13 113742891 113742891 41 ALL relapse snv RPGRIP1 missense E258G NM_020366 10-PARJSR RPGRIP1 MISSENSE SNP Somatic 19 0.948 SQHIGH 16 20 36 0 35 35 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 57096 14 21771675 21771675 56 ALL relapse snv EMC9 missense R151G NM_016049 10-PARJSR EMC9 MISSENSE SNP Somatic 11 0.390 SQHIGH 20 30 50 0 73 73 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 51016 14 24608395 24608395 90 ALL relapse snv FRMD6-AS1 EXON E2_exon NM_001042481 10-PARJSR C14orf82|FRMD6 UTR|INTRON,TSS-UPSTREAM SNP Somatic 11 0.390 SQHIGH 13 36 49 0 44 44 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 145438|122786 14 52117062 52117062 40 ALL relapse snv ELMSAN1 silent S520S NM_194278 10-PARJSR ELMSAN1 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 11 41 52 0 59 59 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 91748 14 74203890 74203890 39 ALL relapse snv BTBD7 missense Y992C NM_001002860 10-PARJSR BTBD7 MISSENSE SNP Somatic -6 0.072 SQHIGH 9 34 43 0 40 40 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55727 14 93709043 93709043 28 ALL relapse snv DYNC1H1 missense D436G NM_001376 10-PARJSR DYNC1H1 MISSENSE SNP Somatic PFAM:PF08385:DHC_N1 6 0.236 SQHIGH 18 32 50 2 56 58 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1778 14 102449792 102449792 50 ALL relapse snv AHNAK2 missense L259P NM_138420 10-PARJSR AHNAK2 MISSENSE SNP Somatic 6 0.236 SQHIGH 15 37 52 0 76 76 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 113146 14 105421012 105421012 65 ALL relapse snv AQR missense V940A NM_014691 10-PARJSR AQR MISSENSE SNP Somatic 10 0.352 SQHIGH 9 23 32 0 45 45 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9716 15 35176934 35176934 38 ALL relapse snv ANKRD63 missense L280P NM_001190479 10-PARJSR ANKRD63 MISSENSE SNP Somatic 6 0.236 SQHIGH 6 16 22 0 28 28 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 100131244 15 40573949 40573949 23 ALL relapse snv CASC5 silent S2002S NM_170589 10-PARJSR CASC5 SYNONYMOUS SNP Somatic 14 0.560 SQHIGH 12 23 35 0 23 23 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 57082 15 40937892 40937892 30 ALL relapse snv SPTBN5 missense L2172P NM_016642 10-PARJSR SPTBN5 MISSENSE SNP Somatic -7 0.066 SQHIGH 8 10 18 0 13 13 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 51332 15 42158657 42158657 23 ALL relapse snv UBR1 splice S1220_E33splice NM_174916 10-PARJSR UBR1 SYNONYMOUS SNP Somatic 1 0.133 SQHIGH 5 17 22 0 25 25 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 197131 15 43290463 43290463 18 ALL relapse snv DUOX1 missense F1116S NM_017434 10-PARJSR DUOX1 MISSENSE SNP Somatic PFAM:PF01794:Ferric_reduct 11 0.390 SQHIGH 24 34 58 1 91 92 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 53905 15 45444637 45444637 102 ALL relapse snv ATP8B4 splice_region D928_E25splice_region NM_024837 10-PARJSR ATP8B4 ACCEPTOR SNP Somatic 13 0.488 SQHIGH 17 31 48 0 56 56 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 79895 15 50168728 50168728 65 ALL relapse snv ZNF609 missense I663T NM_015042 10-PARJSR ZNF609 MISSENSE SNP Somatic 6 0.236 SQHIGH 13 29 42 1 53 54 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23060 15 64967041 64967041 42 ALL relapse snv CSPG4 missense L1379P NM_001897 10-PARJSR CSPG4 MISSENSE SNP Somatic 12 0.436 SQHIGH 8 23 31 0 62 62 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1464 15 75977696 75977696 41 ALL relapse snv UNC45A missense M369T NM_018671 10-PARJSR UNC45A MISSENSE SNP Somatic PFAM:PF11701:UNC45-central 9 0.319 SQHIGH 15 27 42 0 46 46 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55898 15 91488200 91488200 55 ALL relapse snv MCTP2 silent P469P NM_018349 10-PARJSR MCTP2 SYNONYMOUS SNP Somatic PFAM:PF00168:C2 -8 0.060 SQHIGH 5 35 40 0 55 55 Cosmic_Gene C C A C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55784 15 94910939 94910939 19 ALL relapse snv LOC100128770 EXON E1_exon NM_001103175 10-PARJSR CCDC64B|LOC100128770 INTRON|UTR SNP Somatic 8 0.290 SQHIGH 11 30 41 0 49 49 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 146439|100128770 16 3082551 3082551 41 ALL relapse snv SLX4 missense Q518H NM_032444 10-PARJSR SLX4 MISSENSE SNP Somatic 6 0.236 SQHIGH 23 33 56 0 43 43 Cosmic_Gene C C A C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84464 16 3647509 3647509 68 ALL relapse snv ADCY9 missense E889A NM_001116 10-PARJSR ADCY9 MISSENSE SNP Somatic 14 0.560 SQHIGH 18 27 45 1 75 76 Cosmic_Gene T T G T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 115 16 4029130 4029130 77 ALL relapse snv PRRT2 silent A76A NM_145239 10-PARJSR PRRT2|C16orf53 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 9 0.319 SQHIGH 12 21 33 0 40 40 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 112476|79447 16 29824603 29824603 47 ALL relapse snv RNF40 missense H879R NM_014771 10-PARJSR RNF40 MISSENSE SNP Somatic 11 0.390 SQHIGH 7 19 26 0 30 30 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9810 16 30783203 30783203 25 ALL relapse snv CA7 missense I218V NM_005182 10-PARJSR LOC100505908|CA7 INTRON|MISSENSE SNP Somatic PFAM:PF00194:Carb_anhydrase 13 0.488 SQHIGH 20 27 47 2 54 56 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 100505908|766 16 66886750 66886750 60 ALL relapse snv ANKRD11 missense E466G NM_013275 10-PARJSR ANKRD11 MISSENSE SNP Somatic 6 0.236 SQHIGH 18 48 66 0 82 82 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 29123 16 89351553 89351553 70 ALL relapse snv VPS9D1 missense Q77R NM_004913 10-PARJSR LOC100128881|C16orf7|ZNF276 UTR|MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.236 SQHIGH 9 17 26 1 19 20 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 100128881|9605|92822 16 89783176 89783176 18 ALL relapse snv TUSC5 missense Q136R NM_172367 10-PARJSR TUSC5 MISSENSE SNP Somatic PFAM:PF04505:CD225 13 0.488 SQHIGH 17 27 44 0 51 51 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 286753 17 1198804 1198804 66 ALL relapse snv WDR81 missense F248L NM_001163809 10-PARJSR WDR81 INTRON,MISSENSE SNP Somatic 4 0.181 SQHIGH 13 40 53 0 51 51 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 124997 17 1628995 1628995 42 ALL relapse snv GSG2 missense S389G NM_031965 10-PARJSR GSG2|ITGAE MISSENSE|INTRON SNP Somatic 4 0.181 SQHIGH 14 51 66 2 53 55 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 83903|3682 17 3628394 3628394 25 ALL relapse snv CAMKK1 missense L359Q NM_032294 10-PARJSR CAMKK1 MISSENSE SNP Somatic 3 0.163 SQHIGH 17 68 85 0 73 73 Cosmic_Gene A A T A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84254 17 3775896 3775896 49 ALL relapse snv NLGN2 missense N540K NM_020795 10-PARJSR SPEM1|NLGN2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00135:COesterase PFAM:PF06342:DUF1057 1 0.133 SQHIGH 15 53 68 0 51 51 Cosmic_Gene C C G C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 374768|57555 17 7319412 7319412 40 ALL relapse snv PER1 silent A350A NM_002616 10-PARJSR PER1 SYNONYMOUS SNP Somatic 4 0.181 SQHIGH 21 57 78 0 81 81 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5187 17 8051576 8051576 72 ALL relapse snv MYO18A silent P796P NM_078471 10-PARJSR MYO18A SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 17 37 54 0 38 38 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 399687 17 27442048 27442048 45 ALL relapse snv GAS2L2 missense M716T NM_139285 10-PARJSR GAS2L2 MISSENSE SNP Somatic -5 0.077 SQHIGH 9 57 66 0 73 73 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 246176 17 34072369 34072369 30 ALL relapse snv TAF15 missense Y20H NM_139215 10-PARJSR TAF15 MISSENSE SNP Somatic 12 0.436 SQHIGH 13 29 42 0 40 40 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8148 17 34147038 34147038 42 ALL relapse snv KRT25 silent T58T NM_181534 10-PARJSR KRT25 SYNONYMOUS SNP Somatic 6 0.236 SQHIGH 18 33 51 0 59 59 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 147183 17 38911350 38911350 69 ALL relapse snv SLC35B1 missense D347G NM_005827 10-PARJSR SLC35B1 MISSENSE SNP Somatic 0 0.121 SQHIGH 5 9 14 0 20 20 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10237 17 47778860 47778860 21 ALL relapse snv DGKE missense M123T NM_003647 10-PARJSR DGKE|LOC100131091 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.121 SQHIGH 10 38 48 0 44 44 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8526|100131091 17 54912524 54912524 30 ALL relapse snv SCN4A missense S364G NM_000334 10-PARJSR SCN4A MISSENSE SNP Somatic 6 0.236 SQHIGH 16 14 30 1 24 25 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 6329 17 62043851 62043851 43 ALL relapse snv CEP95 silent A801A NM_138363 10-PARJSR CEP95 SYNONYMOUS SNP Somatic -1 0.111 SQHIGH 7 35 42 0 36 36 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 90799 17 62533834 62533834 20 ALL relapse snv CACNG4 splice_region R102_E2splice_region NM_014405 10-PARJSR CACNG4 DONOR SNP Somatic 15 0.653 SQHIGH 34 35 69 0 46 46 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 27092 17 65014392 65014392 95 ALL relapse snv NAT9 splice S26_E2splice NM_015654 10-PARJSR NAT9|TMEM104 DISRUPT|TSS-UPSTREAM SNP Somatic 6 0.236 SQHIGH 20 49 69 1 76 77 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 26151|54868 17 72771759 72771759 61 ALL relapse snv MGAT5B missense Y752C NM_144677 10-PARJSR MGAT5B MISSENSE SNP Somatic -8 0.060 SQHIGH 8 56 64 0 52 52 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 146664 17 74944802 74944802 22 ALL relapse snv SNRPD1 nonsense R119* NM_006938 10-PARJSR SNRPD1 NONSENSE SNP Somatic -4 0.085 SQHIGH 8 50 58 0 36 36 C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 6632 18 19209094 19209094 18 ALL relapse snv KLHL14 missense W245L NM_020805 10-PARJSR KLHL14 MISSENSE SNP Somatic PFAM:PF07707:BACK 8 0.290 SQHIGH 10 9 19 0 19 19 Cosmic_Gene C C A C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 57565 18 30349821 30349821 37 ALL relapse snv CNDP1 nonsense W418* NM_032649 10-PARJSR CNDP1 NONSENSE SNP Somatic 11 0.390 SQHIGH 30 48 78 0 57 57 G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84735 18 72247452 72247452 84 ALL relapse snv HMHA1 missense Q921P NM_012292 10-PARJSR HMHA1 MISSENSE SNP Somatic PFAM:PF00620:RhoGAP -5 0.077 SQHIGH 10 15 25 0 29 29 Cosmic_Gene A A C A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23526 19 1083159 1083159 39 ALL relapse snv SBNO2 silent H15H NM_014963 10-PARJSR SBNO2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 9 20 29 0 40 40 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 22904 19 1154231 1154231 38 ALL relapse snv STK11 missense E351G NM_000455 10-PARJSR STK11 MISSENSE SNP Somatic 3 0.163 SQHIGH 11 44 55 0 72 72 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 6794 19 1223115 1223115 43 ALL relapse snv PTPRS splice_region K617_E13splice_region NM_002850 10-PARJSR PTPRS DONOR SNP Somatic 15 0.653 SQHIGH 13 20 33 1 50 51 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5802 19 5238924 5238924 50 ALL relapse snv MUC16 splice A14356A NM_024690 10-PARJSR MUC16 SYNONYMOUS SNP Somatic PFAM:PF01390:SEA 4 0.181 SQHIGH 16 52 68 0 69 69 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 94025 19 8969276 8969276 53 ALL relapse snv PPAN missense I167V NM_020230 10-PARJSR PPAN|PPAN-P2RY11|SNORD105B|P2RY11 MISSENSE|MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic PFAM:PF04427:Brix 9 0.319 SQHIGH 14 35 49 1 56 57 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 56342|692312|100113382|5032 19 10218796 10218796 42 ALL relapse snv S1PR5 missense P354R NM_030760 10-PARJSR S1PR5 MISSENSE SNP Somatic -6 0.072 SQHIGH 8 8 16 0 20 20 Cosmic_Gene G G C G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 53637 19 10624627 10624627 34 ALL relapse snv GCDH splice_region G112_E5splice_region NM_000159 10-PARJSR KLF1|GCDH TSS-UPSTREAM|INTRON SNP Somatic 6 0.236 SQHIGH 19 47 66 0 75 75 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10661|2639 19 13002999 13002999 70 ALL relapse snv NWD1 silent Y1374Y NM_001007525 10-PARJSR NWD1 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 -10 0.052 SQHIGH 6 51 57 0 77 77 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 284434 19 16918782 16918782 23 ALL relapse snv MVB12A splice S178_E5splice NM_138401 10-PARJSR FAM125A DISRUPT SNP Somatic 13 0.488 SQHIGH 15 25 40 0 38 38 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 93343 19 17534428 17534428 50 ALL relapse snv MAP1S missense G1040S NM_018174 10-PARJSR MAP1S MISSENSE SNP Somatic 10 0.352 SQHIGH 13 27 40 0 70 70 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55201 19 17845175 17845175 63 ALL relapse snv ELL missense Q97R NM_006532 10-PARJSR ELL MISSENSE SNP Somatic PFAM:PF10390:ELL 2 0.147 SQHIGH 10 14 24 0 17 17 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8178 19 18576622 18576622 28 ALL relapse snv RFXANK missense S83P NM_003721 10-PARJSR RFXANK|MEF2BNB|MEF2BNB-MEF2B MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 11 0.390 SQHIGH 13 35 48 0 56 56 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8625|729991|4207 19 19307831 19307831 48 ALL relapse snv LOC641367 EXON E2_exon NM_173531 10-PARJSR LOC641367|ZNF100 UTR|INTRON SNP Somatic 13 0.488 SQHIGH 19 28 47 0 50 50 C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 641367|163227 19 21934603 21934603 70 ALL relapse snv STRN4 missense Q290H NM_013403 10-PARJSR STRN4 MISSENSE SNP Somatic 3 0.163 SQHIGH 24 61 85 0 82 82 C C G C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 29888 19 47233998 47233998 78 ALL relapse snv SAE1 splice R293_E8splice NM_005500 10-PARJSR SAE1 DISRUPT,INTRON SNP Somatic 6 0.236 SQHIGH 21 41 62 0 48 48 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10055 19 47706926 47706926 60 ALL relapse snv TRPM4 silent S588S NM_017636 10-PARJSR TRPM4 SYNONYMOUS SNP Somatic 12 0.436 SQHIGH 15 26 41 0 55 55 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 54795 19 49691918 49691918 63 ALL relapse snv MYH14 missense Q1813L NM_001077186 10-PARJSR MYH14 MISSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 -8 0.060 SQHIGH 3 14 17 0 28 28 Cosmic_Gene A A T A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 79784 19 50804985 50804985 13 ALL relapse snv PPP2R1A silent V99V NM_014225 10-PARJSR PPP2R1A SYNONYMOUS,UTR SNP Somatic 11 0.390 SQHIGH 16 29 45 0 46 46 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5518 19 52714539 52714539 56 ALL relapse snv LILRA4 missense L31P NM_012276 10-PARJSR LILRA4 MISSENSE SNP Somatic PFAM:PF00047:ig 6 0.236 SQHIGH 15 36 51 0 67 67 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23547 19 54849930 54849930 61 ALL relapse snv FAM71E2 missense M702T NM_001145402 10-PARJSR FAM71E2|COX6B2 MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.236 SQHIGH 16 37 53 0 64 64 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 284418|125965 19 55870131 55870131 61 ALL relapse snv NAA20 missense M1T NM_181527 10-PARJSR NAA20 MISSTART,INTRON SNP Somatic 1 0.133 SQHIGH 6 13 19 0 20 20 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 51126 20 19998670 19998670 21 ALL relapse snv THBD missense Y386H NM_000361 10-PARJSR THBD MISSENSE SNP Somatic 18 0.885 SQHIGH 13 15 28 1 40 41 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7056 20 23028986 23028986 50 ALL relapse snv ENTPD6 splice_region D396_E13splice_region NM_001247 10-PARJSR ENTPD6 ACCEPTOR SNP Somatic 9 0.319 SQHIGH 9 22 31 0 50 50 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 955 20 25204733 25204733 41 ALL relapse snv SUN5 splice Q328H NM_080675 10-PARJSR SUN5 MISSENSE SNP Somatic PFAM:PF07738:Sad1_UNC 7 0.265 SQHIGH 17 28 45 0 43 43 Cosmic_Gene C C A C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 140732 20 31572905 31572905 57 ALL relapse snv MYH7B missense L281P NM_020884 10-PARJSR MYH7B MISSENSE SNP Somatic 13 0.488 SQHIGH 18 30 48 0 53 53 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 57644 20 33572724 33572724 67 ALL relapse snv RBL1 missense K794E NM_002895 10-PARJSR RBL1 MISSENSE SNP Somatic PFAM:PF00382:TFIIB 14 0.560 SQHIGH 14 23 37 0 33 33 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5933 20 35661070 35661070 45 ALL relapse snv MATN4 missense G172R NM_003833 10-PARJSR RBPJL|MATN4 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 18 0.885 SQHIGH 12 14 26 0 24 24 Cosmic_Gene C C T C C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 11317|8785 20 43932997 43932997 41 ALL relapse snv ZNFX1 missense P765Q NM_021035 10-PARJSR ZNFX1 MISSENSE SNP Somatic 13 0.488 SQHIGH 16 31 47 0 53 53 Cosmic_Gene G G T G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 57169 20 47879878 47879878 60 ALL relapse snv PCK1 missense L566P NM_002591 10-PARJSR PCK1 MISSENSE SNP Somatic PFAM:PF00821:PEPCK 13 0.488 SQHIGH 19 28 47 0 51 51 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 5105 20 56140688 56140688 71 ALL relapse snv MRGBP missense V29L NM_018270 10-PARJSR MRGBP MISSENSE SNP Somatic -5 0.077 SQHIGH 6 8 14 0 9 9 G G C G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55257 20 61427960 61427960 15 ALL relapse snv SRMS splice Q215_E3splice NM_080823 10-PARJSR SRMS DISRUPT SNP Somatic 13 0.488 SQHIGH 14 19 33 0 46 46 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 6725 20 62174665 62174665 62 ALL relapse snv C21orf62-AS1 EXON E3_exon NM_001162495 10-PARJSR C21orf62|C21orf49 INTRON|UTR SNP Somatic 11 0.390 SQHIGH 14 32 46 0 56 56 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 56245|54067 21 34169452 34169452 54 ALL relapse snv PSMG1 silent V80V NM_003720 10-PARJSR PSMG1 SYNONYMOUS SNP Somatic 11 0.390 SQHIGH 13 36 49 0 43 43 T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8624 21 40553699 40553699 39 ALL relapse snv C2CD2 silent V613V NM_015500 10-PARJSR C2CD2 SYNONYMOUS SNP Somatic 11 0.390 SQHIGH 42 46 88 0 79 79 Cosmic_Gene G G T G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 25966 21 43319193 43319193 144 ALL relapse snv DGCR2 missense L112P NM_005137 10-PARJSR DGCR2 ACCEPTOR,MISSENSE,UTR SNP Somatic 8 0.290 SQHIGH 8 28 36 0 59 59 Cosmic_Gene A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 9993 22 19052574 19052574 36 ALL relapse snv ZNF74 missense L638P NM_003426 10-PARJSR ZNF74 MISSENSE,UTR SNP Somatic 12 0.436 SQHIGH 16 26 42 0 62 62 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 7625 22 20761236 20761236 72 ALL relapse snv PPIL2 missense F49L NM_014337 10-PARJSR PPIL2 MISSENSE SNP Somatic 6 0.236 SQHIGH 22 35 57 1 73 74 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23759 22 22025302 22025302 80 ALL relapse snv PIWIL3 missense R831C NM_001008496 10-PARJSR PIWIL3 MISSENSE SNP Somatic PFAM:PF02171:Piwi 8 0.290 SQHIGH 11 19 30 0 50 50 Cosmic_Gene G G A G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 440822 22 25115756 25115756 53 ALL relapse snv CSF2RB silent P580P NM_000395 10-PARJSR CSF2RB SYNONYMOUS SNP Somatic 6 0.236 SQHIGH 19 33 52 0 80 80 Cosmic_Gene T T C T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 1439 22 37333590 37333590 87 ALL relapse snv TCF20 missense P1942H NM_005650 10-PARJSR TCF20 INTRON,MISSENSE SNP dbsnp.134:rs144341537 Somatic 11 0.390 SQHIGH 13 27 40 0 43 43 Cosmic_Gene G G T G G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 6942 22 42564717 42564717 46 ALL relapse snv PACSIN2 splice_region K203_E5splice_region NM_007229 10-PARJSR PACSIN2 INTRON SNP Somatic 5 0.200 SQHIGH 11 42 53 0 87 87 A A G A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 11252 22 43284640 43284640 49 ALL relapse snv MXRA5 missense S2171L NM_015419 10-PARJSR MXRA5 MISSENSE SNP Somatic PFAM:PF00047:ig 12 0.436 SQHIGH 10 5 15 0 19 19 Cosmic_Gene G A G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 25878 X 3235210 3235210 46 ALL relapse snv SATL1 missense G320S NM_001012980 10-PARJSR SATL1 MISSENSE SNP Somatic 20 0.999 SQHIGH 30 5 35 0 40 40 Cosmic_Gene C T C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 340562 X 84363017 84363017 154 ALL relapse snv TAZ silent P145P NM_000116 10-PARJSR TAZ|DNASE1L1 SYNONYMOUS,INTRON|TSS-UPSTREAM SNP Somatic 14 0.560 SQHIGH 12 5 17 0 19 19 A G A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 6901|1774 X 153642502 153642502 53 ALL diagnosis snv CLSTN1 splice V453_E10splice NM_001009566 10-PARJSR CLSTN1 DISRUPT SNP Somatic -1 0.131 SQHIGH 7 34 41 0 75 75 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 22883 1 9801316 9801316 33 ALL diagnosis snv RSC1A1 missense I385M NM_006511 10-PARJSR RSC1A1|DDI2 MISSENSE|UTR3 SNP Somatic 12 0.456 SQHIGH 18 30 48 0 86 86 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 6248|84301 1 15987518 15987518 91 ALL diagnosis snv CSMD2 missense K306T NM_052896 10-PARJSR CSMD2 MISSENSE SNP Somatic 11 0.408 SQHIGH 19 30 49 0 83 83 Cosmic_Gene T T G T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 114784 1 34291372 34291372 93 ALL diagnosis snv LRP8 missense T352N NM_004631 10-PARJSR LRP8 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 17 0.813 SQHIGH 21 24 45 0 95 95 G G T G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 7804 1 53736970 53736970 121 ALL diagnosis snv WARS2 missense Y52C NM_015836 10-PARJSR WARS2 MISSENSE SNP Somatic 16 0.716 SQHIGH 8 13 21 0 43 43 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 10352 1 119619166 119619166 43 ALL diagnosis snv YY1AP1 silent E759E NM_139118 10-PARJSR YY1AP1 UTR3,SYNONYMOUS SNP Somatic 20 0.983 SQHIGH 19 12 31 1 73 74 Cosmic_Gene C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 55249 1 155629562 155629562 112 ALL diagnosis snv KCNJ9 missense E327G NM_004983 10-PARJSR KCNJ9 MISSENSE SNP Somatic PFAM:PF07885:Ion_trans_2 -10 0.063 SQHIGH 6 12 18 1 40 41 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 3765 1 160057405 160057405 26 ALL diagnosis snv ADAMTS4 silent G147G NM_005099 10-PARJSR ADAMTS4|NDUFS2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF01562:Pep_M12B_propep 4 0.203 SQHIGH 16 35 51 0 79 79 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 9507|4720 1 161167977 161167977 72 ALL diagnosis snv MPZ silent L184L NM_000530 10-PARJSR MPZ SYNONYMOUS SNP Somatic PFAM:PF10570:Myelin-PO_C -7 0.079 SQHIGH 4 19 23 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 4359 1 161276153 161276153 15 ALL diagnosis snv RGSL1 missense I346V NM_001137669 10-PARJSR RGSL1 MISSENSE SNP Somatic 10 0.370 SQHIGH 24 23 47 0 73 73 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 353299 1 182443282 182443282 118 ALL diagnosis snv USH2A silent P3152P NM_206933 10-PARJSR USH2A SYNONYMOUS SNP Somatic 1 0.155 SQHIGH 6 6 12 0 20 20 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 7399 1 215990453 215990453 30 ALL diagnosis snv C2orf70 missense N79S NM_001105519 10-PARJSR C2orf70 MISSENSE SNP Somatic PFAM:PF10629:DUF2475 0 0.144 SQHIGH 5 17 22 0 34 34 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 339778 2 26798931 26798931 22 ALL diagnosis snv BRE-AS1 EXON E1_exon NM_022128 10-PARJSR BRE|RBKS|LOC100302650 TSS-UPSTREAM|INTRON|UTR SNP Somatic 6 0.252 SQHIGH 7 17 24 0 27 27 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 9577|64080|100302650 2 28112516 28112516 25 ALL diagnosis snv RAB1A missense V133A NM_004161 10-PARJSR RAB1A INTRON,MISSENSE SNP Somatic 16 0.716 SQHIGH 20 22 42 0 74 74 A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 5861 2 65316095 65316095 104 ALL diagnosis snv MOGS silent L701L NM_006302 10-PARJSR MOGS SYNONYMOUS SNP Somatic PFAM:PF03200:Glyco_hydro_63 1 0.155 SQHIGH 5 11 16 0 20 20 C C A C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 7841 2 74688813 74688813 19 ALL diagnosis snv GLS missense L10P NM_014905 10-PARJSR GLS MISSENSE SNP Somatic -9 0.069 SQHIGH 5 9 14 0 34 34 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 2744 2 191745839 191745839 29 ALL diagnosis snv NRP2 missense I418V NM_201266 10-PARJSR NRP2 MISSENSE SNP Somatic 4 0.203 SQHIGH 6 16 22 0 41 41 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 8828 2 206605348 206605348 30 ALL diagnosis snv IDH1 missense R132C NM_005896 10-PARJSR IDH1 MISSENSE SNP dbsnp.133:rs121913499 Somatic PFAM:PF00180:Iso_dh 18 0.865 SQHIGH 13 14 27 1 58 59 COSMIC:mut:28747 Cosmic_Gene G G A G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 3417 2 209113113 209113113 66 ALL diagnosis snv EOMES missense N500S NM_005442 10-PARJSR EOMES MISSENSE SNP Somatic 9 0.335 SQHIGH 9 10 19 1 43 44 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 8320 3 27759123 27759123 45 ALL diagnosis snv DNAH1 missense S3418P NM_015512 10-PARJSR DNAH1 MISSENSE SNP Somatic PFAM:PF12781:AAA_9 1 0.155 SQHIGH 9 4 13 0 16 16 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 25981 3 52426679 52426679 41 ALL diagnosis snv FLNB missense D2299A NM_001164317 10-PARJSR FLNB MISSENSE SNP Somatic PFAM:PF00630:Filamin 6 0.252 SQHIGH 10 34 44 2 74 76 Cosmic_Gene A A C A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 2317 3 58141717 58141717 31 ALL diagnosis snv TM4SF18 missense V194A NM_138786 10-PARJSR TM4SF18 MISSENSE SNP Somatic PFAM:PF05805:L6_membrane 16 0.716 SQHIGH 10 18 28 0 40 40 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 116441 3 149040053 149040053 43 ALL diagnosis snv FGFRL1 silent T251T NM_001004356 10-PARJSR FGFRL1 SYNONYMOUS SNP Somatic PFAM:PF07686:V-set -8 0.073 SQHIGH 3 4 7 0 24 24 G G C G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 53834 4 1018133 1018133 21 ALL diagnosis snv CTBP1 silent T50T NM_001328 10-PARJSR CTBP1 SYNONYMOUS SNP Somatic 21 1.000 SQHIGH 18 20 38 0 44 44 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 1487 4 1232016 1232016 72 ALL diagnosis snv CDH10 missense E65G NM_006727 10-PARJSR CDH10 MISSENSE SNP Somatic 5 0.221 SQHIGH 12 17 29 0 30 30 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 1008 5 24593406 24593406 43 ALL diagnosis snv HCN1 missense S728P NM_021072 10-PARJSR HCN1 MISSENSE SNP Somatic 4 0.203 SQHIGH 9 32 41 0 43 43 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 348980 5 45262514 45262514 30 ALL diagnosis snv SLC25A48 missense V37A NM_145282 10-PARJSR SLC25A48 MISSENSE SNP Somatic PFAM:PF00153:Mito_carr 4 0.203 SQHIGH 18 54 72 1 61 62 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 153328 5 135186133 135186133 43 ALL diagnosis snv SLU7 missense K527R NM_006425 10-PARJSR SLU7|C5orf54 MISSENSE|TSS-UPSTREAM SNP Somatic 2 0.170 SQHIGH 15 54 69 0 57 57 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 10569|63920 5 159831448 159831448 43 ALL diagnosis snv TENM2 missense R2292H NM_001122679 10-PARJSR TENM2 MISSENSE SNP Somatic -3 0.109 SQHIGH 12 39 51 0 45 45 Cosmic_Gene G G A G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 57451 5 167674846 167674846 36 ALL diagnosis snv DBN1 splice G111_E5splice NM_004395 10-PARJSR DBN1 DISRUPT SNP Somatic -3 0.109 SQHIGH 8 40 48 0 40 40 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 1627 5 176894630 176894630 22 ALL diagnosis snv SYCP2L splice_region E786_E28splice_region NM_001040274 10-PARJSR SYCP2L ACCEPTOR SNP Somatic 13 0.508 SQHIGH 10 18 28 0 27 27 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 221711 6 10961727 10961727 33 ALL diagnosis snv TNXB missense L969P NM_019105 10-PARJSR TNXB MISSENSE SNP Somatic 7 0.280 SQHIGH 19 42 61 0 56 56 A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 7148 6 32053769 32053769 61 ALL diagnosis snv AARS2 silent G570G NM_020745 10-PARJSR AARS2 SYNONYMOUS SNP Somatic 4 0.203 SQHIGH 16 41 57 0 48 48 Cosmic_Gene G G C G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 57505 6 44272424 44272424 47 ALL diagnosis snv ZBTB24 missense N529D NM_014797 10-PARJSR ZBTB24 MISSENSE SNP Somatic 1 0.155 SQHIGH 6 29 35 0 44 44 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 9841 6 109787563 109787563 22 ALL diagnosis snv TSPYL1 silent A75A NM_003309 10-PARJSR DSE|TSPYL1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 0 0.144 SQHIGH 8 39 47 1 49 50 Cosmic_Gene C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 29940|7259 6 116600769 116600769 19 ALL diagnosis snv ZUFSP missense I285M NM_145062 10-PARJSR ZUFSP MISSENSE SNP Somatic 1 0.155 SQHIGH 11 5 16 0 18 18 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 221302 6 116977953 116977953 48 ALL diagnosis snv SCAF8 missense M1T NM_014892 10-PARJSR SCAF8 MISSTART SNP Somatic 11 0.408 SQHIGH 8 7 15 0 25 25 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 22828 6 155055036 155055036 41 ALL diagnosis snv SCAF8 silent S821S NM_014892 10-PARJSR SCAF8 SYNONYMOUS SNP Somatic -4 0.100 SQHIGH 6 23 29 1 42 43 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 22828 6 155153176 155153176 18 ALL diagnosis snv GPER1 missense I85T NM_001505 10-PARJSR C7orf50|GPER INTRON|MISSENSE SNP Somatic PFAM:PF00001:7tm_1 20 0.983 SQHIGH 32 6 38 0 60 60 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 84310|2852 7 1131618 1131618 194 ALL diagnosis snv OSBPL3 silent C768C NM_015550 10-PARJSR OSBPL3 SYNONYMOUS SNP Somatic PFAM:PF01237:Oxysterol_BP 16 0.716 SQHIGH 12 18 30 1 50 51 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 26031 7 24849439 24849439 49 ALL diagnosis snv IKZF1 missense L177P NM_006060 10-PARJSR IKZF1 INTRON,TSS-UPSTREAM,MISSENSE SNP Somatic 19 0.943 SQHIGH 21 7 28 0 77 77 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 10320 7 50450346 50450346 157 ALL diagnosis snv CPSF4 silent N194N NM_006693 10-PARJSR ATP5J2-PTCD1|CPSF4 INTRON|SYNONYMOUS,INTRON SNP Somatic 15 0.655 SQHIGH 48 4 52 0 69 69 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 100526740|10898 7 99051600 99051600 287 ALL diagnosis snv ZNF655 silent N155N NM_138494 10-PARJSR ZNF655 SYNONYMOUS SNP Somatic 10 0.370 SQHIGH 14 23 37 0 56 56 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 79027 7 99170196 99170196 64 ALL diagnosis snv REPIN1 silent A101A NM_013400 10-PARJSR REPIN1 SYNONYMOUS SNP Somatic 14 0.591 SQHIGH 11 21 32 0 40 40 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 29803 7 150068633 150068633 44 ALL diagnosis snv CSMD1 missense G2441V NM_033225 10-PARJSR CSMD1 MISSENSE SNP Somatic PFAM:PF00084:Sushi 16 0.716 SQHIGH 24 11 35 0 41 41 Cosmic_Gene C C A C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 64478 8 2944771 2944771 110 ALL diagnosis snv OR2S2 missense L33V NM_019897 10-PARJSR OR2S2 MISSENSE SNP Somatic -6 0.087 SQHIGH 5 13 18 0 19 19 Cosmic_Gene G G C G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 56656 9 35957999 35957999 17 ALL diagnosis snv OR2S2 missense I32F NM_019897 10-PARJSR OR2S2 MISSENSE SNP Somatic -1 0.131 SQHIGH 5 18 23 0 20 20 Cosmic_Gene T T A T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 56656 9 35958002 35958002 15 ALL diagnosis snv SHB silent Y301Y NM_003028 10-PARJSR SHB SYNONYMOUS SNP Somatic 10 0.370 SQHIGH 12 30 42 1 68 69 Cosmic_Gene G G A G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 6461 9 37974770 37974770 46 ALL diagnosis snv FIBCD1 missense F404L NM_032843 10-PARJSR FIBCD1 MISSENSE SNP Somatic 17 0.813 SQHIGH 16 22 38 0 56 56 A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 84929 9 133779627 133779627 73 ALL diagnosis snv FAM69B missense Y309H NM_152421 10-PARJSR FAM69B MISSENSE SNP Somatic PFAM:PF12260:PIP49_C 19 0.943 SQHIGH 16 7 23 0 37 37 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 138311 9 139617855 139617855 88 ALL diagnosis snv CELF2 splice G60_E2splice NM_001025076 10-PARJSR CELF2 DISRUPT SNP Somatic 2 0.170 SQHIGH 7 23 30 0 49 49 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 10659 10 11207647 11207647 32 ALL diagnosis snv USP6NL silent N634N NM_014688 10-PARJSR USP6NL SYNONYMOUS SNP Somatic 2 0.170 SQHIGH 11 48 59 0 64 64 A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 9712 10 11505025 11505025 37 ALL diagnosis snv MPP7 silent K258K NM_173496 10-PARJSR MPP7 SYNONYMOUS SNP Somatic 8 0.306 SQHIGH 9 25 34 0 43 43 Cosmic_Gene C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 143098 10 28409236 28409236 35 ALL diagnosis snv COL13A1 splice_region G134_E5splice_region NM_001130103 10-PARJSR COL13A1 ACCEPTOR,INTRON SNP Somatic 8 0.306 SQHIGH 41 32 73 0 76 76 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 1305 10 71634876 71634876 162 ALL diagnosis snv SEC24C missense M270V NM_004922 10-PARJSR SEC24C MISSENSE SNP Somatic 1 0.155 SQHIGH 9 32 41 0 45 45 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 9632 10 75520102 75520102 31 ALL diagnosis snv SORCS3-AS1 EXON E1_exon NM_014978 10-PARJSR SORCS3|LOC100505890 INTRON|UTR SNP Somatic 19 0.943 SQHIGH 16 11 27 0 43 43 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 22986|100505890 10 106425350 106425350 83 ALL diagnosis snv GRK5 splice L423_E13splice NM_005308 10-PARJSR GRK5 DISRUPT SNP Somatic 17 0.813 SQHIGH 34 34 68 1 60 61 Cosmic_Gene A A C A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 2869 10 121207633 121207633 104 ALL diagnosis snv PDHX splice R181_E5splice NM_003477 10-PARJSR PDHX DISRUPT,INTRON SNP Somatic -6 0.087 SQHIGH 5 3 8 0 14 14 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 8050 11 34981965 34981965 27 ALL diagnosis snv PRDM11 missense Y896H NM_001256695 10-PARJSR SNP Somatic 16 0.716 SQHIGH 24 21 45 0 29 29 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 11 45248862 45248862 67 ALL diagnosis snv PSMC3 missense I29M NM_002804 10-PARJSR PSMC3 MISSENSE SNP Somatic 6 0.252 SQHIGH 19 33 52 0 80 80 Cosmic_Gene A A C A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 5702 11 47447490 47447490 87 ALL diagnosis snv OR4X1 silent P259P NM_001004726 10-PARJSR OR4X1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 5 0.221 SQHIGH 24 60 84 0 75 75 Cosmic_Gene C C A C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 390113 11 48286189 48286189 74 ALL diagnosis snv PLCB3 missense R872G NM_000932 10-PARJSR PLCB3 MISSENSE SNP Somatic -8 0.073 SQHIGH 7 28 35 1 41 42 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 5331 11 64031546 64031546 18 ALL diagnosis snv CDC42BPG splice_region G1323_E31splice_region NM_017525 10-PARJSR CDC42BPG ACCEPTOR SNP Somatic 6 0.252 SQHIGH 16 36 52 1 52 53 Cosmic_Gene C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 55561 11 64595259 64595259 45 ALL diagnosis snv SART1 missense Y691C NM_005146 10-PARJSR SART1 MISSENSE SNP Somatic PFAM:PF03343:SART-1 4 0.203 SQHIGH 17 45 62 0 67 67 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 9092 11 65745270 65745270 60 ALL diagnosis snv PELI3 silent H144H NM_145065 10-PARJSR PELI3 SYNONYMOUS SNP Somatic PFAM:PF04710:Pellino -3 0.109 SQHIGH 12 43 55 1 80 81 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 246330 11 66239917 66239917 41 ALL diagnosis snv LRFN4 missense N58S NM_024036 10-PARJSR LRFN4|PC MISSENSE|INTRON SNP Somatic 2 0.170 SQHIGH 10 36 46 1 59 60 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 78999|5091 11 66625388 66625388 30 ALL diagnosis snv USP35 missense W418R NM_020798 10-PARJSR USP35 MISSENSE SNP Somatic 0 0.144 SQHIGH 8 33 41 0 39 39 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 57558 11 77916942 77916942 25 ALL diagnosis snv SIK2 missense T549A NM_015191 10-PARJSR SIK2 MISSENSE SNP Somatic 9 0.335 SQHIGH 24 37 61 0 53 53 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 23235 11 111591351 111591351 77 ALL diagnosis snv ALG9 silent Q406Q NM_024740 10-PARJSR ALG9 SYNONYMOUS SNP Somatic PFAM:PF03901:Glyco_transf_22 -9 0.069 SQHIGH 5 30 35 0 30 30 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 79796 11 111709078 111709078 14 ALL diagnosis snv SORL1 silent H247H NM_003105 10-PARJSR SORL1 SYNONYMOUS SNP Somatic -10 0.063 SQHIGH 6 35 41 0 51 51 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 6653 11 121360802 121360802 22 ALL diagnosis snv ARHGAP32 silent S902S NM_001142685 10-PARJSR ARHGAP32 SYNONYMOUS SNP Somatic 7 0.280 SQHIGH 19 48 67 0 95 95 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 9743 11 128844344 128844344 80 ALL diagnosis snv NRIP2 missense R138Q NM_031474 10-PARJSR NRIP2 MISSENSE SNP Somatic 13 0.508 SQHIGH 16 21 37 2 50 52 Cosmic_Gene C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 83714 12 2939956 2939956 52 ALL diagnosis snv CCND2 missense L289P NM_001759 10-PARJSR CCND2 MISSENSE SNP Somatic 10 0.370 SQHIGH 9 10 19 0 38 38 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 894 12 4409171 4409171 50 ALL diagnosis snv FGF23 missense I102V NM_020638 10-PARJSR FGF23 MISSENSE SNP Somatic -1 0.131 SQHIGH 22 37 59 0 51 51 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 8074 12 4481771 4481771 69 ALL diagnosis snv PTPN6 silent N333N NM_002831 10-PARJSR PTPN6 SYNONYMOUS SNP Somatic 11 0.408 SQHIGH 8 15 23 0 49 49 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 5777 12 7065656 7065656 44 ALL diagnosis snv LRP6 missense S1280G NM_002336 10-PARJSR LRP6 MISSENSE SNP Somatic 14 0.591 SQHIGH 9 6 15 0 27 27 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 4040 12 12284887 12284887 49 ALL diagnosis snv C12orf10 missense A288V NM_021640 10-PARJSR C12orf10 MISSENSE SNP Somatic PFAM:PF03690:UPF0160 10 0.370 SQHIGH 16 31 47 0 83 83 Cosmic_Gene C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 60314 12 53700561 53700561 79 ALL diagnosis snv POLE silent A781A NM_006231 10-PARJSR POLE SYNONYMOUS SNP Somatic 14 0.591 SQHIGH 22 13 35 1 45 46 Cosmic_Gene C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 5426 12 133242013 133242013 91 ALL diagnosis snv FLT3 missense L576P NM_004119 10-PARJSR FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 15 0.655 SQHIGH 8 16 24 0 66 66 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 2322 13 28608329 28608329 50 ALL diagnosis snv DHRS12 missense S52P NM_001031719 10-PARJSR DHRS12 MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD 14 0.591 SQHIGH 11 11 22 0 26 26 A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 79758 13 52365366 52365366 45 ALL diagnosis snv FARP1 missense E1018G NM_005766 10-PARJSR FARP1 MISSENSE SNP Somatic 12 0.456 SQHIGH 13 28 41 0 66 66 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 10160 13 99099068 99099068 60 ALL diagnosis snv MCF2L missense R928L NM_001112732 10-PARJSR MCF2L MISSENSE SNP Somatic 9 0.335 SQHIGH 9 14 23 0 43 43 Cosmic_Gene G G T G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 23263 13 113742891 113742891 47 ALL diagnosis snv CHD8 splice L657_E7splice NM_001170629 10-PARJSR CHD8 DISRUPT SNP Somatic 12 0.456 SQHIGH 7 12 19 0 42 42 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 57680 14 21883154 21883154 39 ALL diagnosis snv DAD1 missense M1V NM_001344 10-PARJSR DAD1 MISSTART SNP Somatic 9 0.335 SQHIGH 9 23 32 1 62 63 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 1603 14 23058063 23058063 37 ALL diagnosis snv EMC9 missense R151G NM_016049 10-PARJSR EMC9 MISSENSE SNP Somatic 16 0.716 SQHIGH 19 29 48 0 73 73 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 51016 14 24608395 24608395 88 ALL diagnosis snv FRMD6-AS1 EXON E2_exon NM_001042481 10-PARJSR C14orf82|FRMD6 UTR|INTRON,TSS-UPSTREAM SNP Somatic 6 0.252 SQHIGH 5 11 16 0 44 44 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 145438|122786 14 52117062 52117062 31 ALL diagnosis snv ELMSAN1 silent S520S NM_194278 10-PARJSR ELMSAN1 SYNONYMOUS SNP Somatic 19 0.943 SQHIGH 18 18 36 0 59 59 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 91748 14 74203890 74203890 91 ALL diagnosis snv OTUD7A silent G289G NM_130901 10-PARJSR OTUD7A SYNONYMOUS SNP Somatic PFAM:PF02338:OTU 7 0.280 SQHIGH 14 26 40 0 30 30 Cosmic_Gene G G A G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 161725 15 31818557 31818557 39 ALL diagnosis snv AQR missense V940A NM_014691 10-PARJSR AQR MISSENSE SNP Somatic 14 0.591 SQHIGH 10 7 17 0 45 45 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 9716 15 35176934 35176934 67 ALL diagnosis snv DUOX1 missense F1116S NM_017434 10-PARJSR DUOX1 MISSENSE SNP Somatic PFAM:PF01794:Ferric_reduct 11 0.408 SQHIGH 19 29 48 1 91 92 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 53905 15 45444637 45444637 89 ALL diagnosis snv ATP8B4 splice_region D928_E25splice_region NM_024837 10-PARJSR ATP8B4 ACCEPTOR SNP Somatic 10 0.370 SQHIGH 7 21 28 0 56 56 Cosmic_Gene C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 79895 15 50168728 50168728 36 ALL diagnosis snv ZNF609 missense I663T NM_015042 10-PARJSR ZNF609 MISSENSE SNP Somatic 7 0.280 SQHIGH 12 24 36 1 53 54 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 23060 15 64967041 64967041 44 ALL diagnosis snv MYO9A missense V236M NM_006901 10-PARJSR MYO9A MISSENSE SNP Somatic PFAM:PF00225:Kinesin -5 0.093 SQHIGH 4 26 30 0 45 45 Cosmic_Gene C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 4649 15 72338199 72338199 16 ALL diagnosis snv LOXL1-AS1 EXON E1_exon NM_005576 10-PARJSR LOXL1|LOC100287616 INTRON|TSS-UPSTREAM,UTR SNP Somatic 6 0.252 SQHIGH 9 22 31 0 40 40 A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 4016|100287616 15 74220554 74220554 36 ALL diagnosis snv FURIN missense V548A NM_002569 10-PARJSR FURIN|FES MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF01483:P_proprotein 16 0.716 SQHIGH 14 24 38 0 58 58 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 5045|2242 15 91424007 91424007 64 ALL diagnosis snv ADAMTS17 missense R1089C NM_139057 10-PARJSR ADAMTS17 MISSENSE SNP Somatic 13 0.508 SQHIGH 14 23 37 0 41 41 Cosmic_Gene G G A G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 170691 15 100514630 100514630 52 ALL diagnosis snv ZNF205 silent T43T NM_003456 10-PARJSR MGC3771|ZNF205 UTR|SYNONYMOUS SNP Somatic 9 0.335 SQHIGH 13 31 44 0 46 46 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 81854|7755 16 3165427 3165427 45 ALL diagnosis snv ABAT splice E57_E4splice NM_020686 10-PARJSR ABAT DISRUPT SNP Somatic 7 0.280 SQHIGH 9 12 21 0 23 23 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 18 16 8841963 8841963 34 ALL diagnosis snv ABCC1 silent S1233S NM_004996 10-PARJSR ABCC1 SYNONYMOUS SNP Somatic 20 0.983 SQHIGH 20 19 39 1 78 79 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 4363 16 16218754 16218754 102 ALL diagnosis snv PRRT2 silent A76A NM_145239 10-PARJSR PRRT2|C16orf53 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 0 0.144 SQHIGH 10 16 26 0 40 40 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 112476|79447 16 29824603 29824603 46 ALL diagnosis snv CDH16 silent P341P NM_004062 10-PARJSR CDH16 SYNONYMOUS SNP Somatic 13 0.508 SQHIGH 17 29 46 0 74 74 Cosmic_Gene G G A G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 1014 16 66947065 66947065 80 ALL diagnosis snv TSR1 missense R287G NM_018128 10-PARJSR TSR1|SNORD91A|SGSM2 MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic PFAM:PF08142:AARP2CN 7 0.280 SQHIGH 17 43 60 1 69 70 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 55720|692207|9905 17 2237888 2237888 53 ALL diagnosis snv CAMKK1 splice_region V229_E8splice_region NM_032294 10-PARJSR CAMKK1 ACCEPTOR SNP Somatic 2 0.170 SQHIGH 12 73 85 0 88 88 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 84254 17 3784948 3784948 39 ALL diagnosis snv ZZEF1 missense E221G NM_015113 10-PARJSR ZZEF1 MISSENSE SNP Somatic 8 0.306 SQHIGH 9 31 40 0 57 57 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 23140 17 4020298 4020298 37 ALL diagnosis snv SHBG missense W248R NM_001040 10-PARJSR SHBG|SAT2 INTRON,MISSENSE,UTR|TSS-UPSTREAM SNP Somatic 6 0.252 SQHIGH 14 33 47 0 51 51 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 6462|112483 17 7535223 7535223 50 ALL diagnosis snv ERBB2 missense Q213R NM_004448 10-PARJSR ERBB2 MISSENSE SNP Somatic PFAM:PF00757:Furin-like 6 0.252 SQHIGH 15 37 52 0 61 61 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 2064 17 37866129 37866129 56 ALL diagnosis snv KRT24 missense D257G NM_019016 10-PARJSR KRT24 MISSENSE SNP Somatic PFAM:PF00038:Filament 12 0.456 SQHIGH 9 27 36 0 40 40 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 192666 17 38857477 38857477 32 ALL diagnosis snv KRT25 silent T58T NM_181534 10-PARJSR KRT25 SYNONYMOUS SNP Somatic 19 0.943 SQHIGH 13 21 34 0 59 59 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 147183 17 38911350 38911350 64 ALL diagnosis snv OSBPL7 missense S471G NM_145798 10-PARJSR OSBPL7 MISSENSE SNP Somatic 1 0.155 SQHIGH 9 25 34 0 29 29 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 114881 17 45891141 45891141 27 ALL diagnosis snv DGKE missense M123T NM_003647 10-PARJSR DGKE|LOC100131091 MISSENSE|TSS-UPSTREAM SNP Somatic 10 0.370 SQHIGH 18 26 44 0 44 44 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 8526|100131091 17 54912524 54912524 64 ALL diagnosis snv CACNG4 splice_region R102_E2splice_region NM_014405 10-PARJSR CACNG4 DONOR SNP Somatic 14 0.591 SQHIGH 34 18 52 0 46 46 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 27092 17 65014392 65014392 128 ALL diagnosis snv AANAT missense L54P NM_001166579 10-PARJSR AANAT MISSENSE SNP Somatic 4 0.203 SQHIGH 13 44 57 0 45 45 T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 15 17 74464854 74464854 36 ALL diagnosis snv KLHL14 missense W245L NM_020805 10-PARJSR KLHL14 MISSENSE SNP Somatic PFAM:PF07707:BACK 8 0.306 SQHIGH 12 8 20 0 19 19 Cosmic_Gene C C A C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 57565 18 30349821 30349821 45 ALL diagnosis snv TPGS2 missense S153G NM_015476 10-PARJSR TPGS2 MISSENSE SNP Somatic PFAM:PF09346:SMI1_KNR4 5 0.221 SQHIGH 11 38 49 0 56 56 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 25941 18 34380200 34380200 39 ALL diagnosis snv CNDP1 nonsense W418* NM_032649 10-PARJSR CNDP1 NONSENSE SNP Somatic 12 0.456 SQHIGH 34 39 73 0 57 57 G G A G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 84735 18 72247452 72247452 105 ALL diagnosis snv HMHA1 missense Q921P NM_012292 10-PARJSR HMHA1 MISSENSE SNP Somatic PFAM:PF00620:RhoGAP -5 0.093 SQHIGH 7 11 18 0 29 29 Cosmic_Gene A A C A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 23526 19 1083159 1083159 33 ALL diagnosis snv ADAT3 missense L320M NM_138422 10-PARJSR ADAT3|SCAMP4 MISSENSE|INTRON SNP Somatic 10 0.370 SQHIGH 8 18 26 1 32 33 Cosmic_Gene C C A C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 113179|113178 19 1913004 1913004 24 ALL diagnosis snv PTPRS splice_region K617_E13splice_region NM_002850 10-PARJSR PTPRS DONOR SNP Somatic 12 0.456 SQHIGH 13 23 36 1 50 51 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 5802 19 5238924 5238924 46 ALL diagnosis snv BEST2 missense E198G NM_017682 10-PARJSR BEST2 MISSENSE SNP Somatic PFAM:PF01062:Bestrophin -4 0.100 SQHIGH 5 9 14 1 34 35 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 54831 19 12865802 12865802 23 ALL diagnosis snv ELL missense Q97R NM_006532 10-PARJSR ELL MISSENSE SNP Somatic PFAM:PF10390:ELL 1 0.155 SQHIGH 8 9 17 0 17 17 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 8178 19 18576622 18576622 29 ALL diagnosis snv LOC641367 EXON E2_exon NM_173531 10-PARJSR LOC641367|ZNF100 UTR|INTRON SNP Somatic 17 0.813 SQHIGH 13 16 29 0 50 50 C C T C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 641367|163227 19 21934603 21934603 66 ALL diagnosis snv TRPM4 silent S588S NM_017636 10-PARJSR TRPM4 SYNONYMOUS SNP Somatic 18 0.865 SQHIGH 18 20 38 0 55 55 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 54795 19 49691918 49691918 83 ALL diagnosis snv PRMT1 missense Y199H NM_001536 10-PARJSR PRMT1|C19orf76 INTRON,MISSENSE,UTR|TSS-UPSTREAM SNP Somatic 6 0.252 SQHIGH 19 36 55 1 54 55 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 3276|199800 19 50188050 50188050 54 ALL diagnosis snv LILRB2 silent E261E NM_005874 10-PARJSR LILRB2|MIR4752 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF00047:ig 4 0.203 SQHIGH 7 24 31 1 49 50 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 10288|100616171 19 54782839 54782839 24 ALL diagnosis snv LILRA4 missense L31P NM_012276 10-PARJSR LILRA4 MISSENSE SNP Somatic PFAM:PF00047:ig 17 0.813 SQHIGH 20 20 40 0 67 67 Cosmic_Gene A A G A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 23547 19 54849930 54849930 102 ALL diagnosis snv SNRPB2 silent N13N NM_003092 10-PARJSR SNRPB2 SYNONYMOUS SNP Somatic -6 0.087 SQHIGH 3 10 13 0 30 30 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 6629 20 16712386 16712386 16 ALL diagnosis snv SUN5 splice Q328H NM_080675 10-PARJSR SUN5 MISSENSE SNP Somatic PFAM:PF07738:Sad1_UNC 9 0.335 SQHIGH 27 19 46 0 43 43 Cosmic_Gene C C A C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 140732 20 31572905 31572905 101 ALL diagnosis snv DSCAM silent T1683T NM_001389 10-PARJSR DSCAM SYNONYMOUS SNP Somatic -34 0.005 5 37 42 0 48 48 Cosmic_Gene C C A C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 1826 21 41424021 41424021 17 ALL diagnosis snv C2CD2 silent V613V NM_015500 10-PARJSR C2CD2 SYNONYMOUS SNP Somatic 12 0.456 SQHIGH 45 25 70 0 79 79 Cosmic_Gene G G T G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 25966 21 43319193 43319193 197 ALL diagnosis snv PDXK missense F90I NM_003681 10-PARJSR PDXK MISSENSE SNP Somatic PFAM:PF00294:PfkB -6 0.087 SQHIGH 5 11 16 2 38 40 T T A T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 8566 21 45163625 45163625 18 ALL diagnosis snv PWP2 splice_region G76_E3splice_region NM_005049 10-PARJSR PWP2 DONOR SNP Somatic 7 0.280 SQHIGH 19 48 67 0 66 66 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 5822 21 45533733 45533733 63 ALL diagnosis snv PPIL2 missense F49L NM_014337 10-PARJSR PPIL2 MISSENSE SNP Somatic 10 0.370 SQHIGH 20 27 47 1 73 74 Cosmic_Gene T T C T T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 23759 22 22025302 22025302 84 ALL diagnosis snv PIWIL3 missense R831C NM_001008496 10-PARJSR PIWIL3 MISSENSE SNP Somatic PFAM:PF02171:Piwi 9 0.335 SQHIGH 14 12 26 0 50 50 Cosmic_Gene G G A G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 440822 22 25115756 25115756 79 ALL diagnosis snv TCF20 missense P1942H NM_005650 10-PARJSR TCF20 INTRON,MISSENSE SNP dbsnp.134:rs144341537 Somatic 18 0.865 SQHIGH 14 15 29 0 43 43 Cosmic_Gene G G T G G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 6942 22 42564717 42564717 66 ALL diagnosis mnv MOGS missense R700P NM_006302 10-PARJSR MOGS MISSENSE Sub Somatic PFAM:PF03200:Glyco_hydro_63 -10 0.283 SQHIGH 5 9 14 0 24 24 TC TC GG TC TC TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 7841 2 74688816 74688817 24 ALL relapse snv PYHIN1 missense L125F NM_152501 10-PARJZZ PYHIN1 MISSENSE SNP Somatic 8 0.350 SQHIGH 7 8 15 0 32 32 Cosmic_Gene C C T C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 149628 1 158908294 158908294 40 ALL relapse snv USH2A missense S1255R NM_007123 10-PARJZZ USH2A MISSENSE SNP Somatic 19 0.969 SQHIGH 15 11 26 0 39 39 Cosmic_Gene T T G T T TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 7399 1 216373017 216373017 74 ALL relapse snv DNAJB3 silent D58D NM_001001394 10-PARJZZ UGT1A4|UGT1A9|UGT1A10|UGT1A6|UGT1A8|UGT1A7|UGT1A5|DNAJB3|UGT1A3 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|SYNONYMOUS|INTRON SNP Somatic -2 0.131 SQHIGH 12 27 39 1 40 41 Cosmic_Gene G G A G G TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 54657|54600|54575|54578|54576|54577|54579|414061|54659 2 234652389 234652389 33 ALL relapse snv IQCA1 splice_region Q439_E10splice_region NM_024726 10-PARJZZ IQCA1 INTRON SNP Somatic -1 0.144 SQHIGH 5 28 33 0 37 37 Cosmic_Gene G G C G G TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 79781 2 237300880 237300880 17 ALL relapse snv ATP2B2 silent I861I NM_001001331 10-PARJZZ ATP2B2 SYNONYMOUS SNP Somatic -5 0.099 SQHIGH 10 18 28 0 23 23 Cosmic_Gene G G A G G TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 491 3 10387188 10387188 30 ALL relapse snv SPDYE3 missense Q507R NM_001004351 10-PARJZZ SPDYE3 MISSENSE SNP Somatic PFAM:PF11357:Spy1 -9 0.072 SQHIGH 8 56 64 0 50 50 A A G A A TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 441272 7 99917361 99917361 21 ALL relapse snv SPDYE3 silent F514F NM_001004351 10-PARJZZ SPDYE3 SYNONYMOUS SNP Somatic PFAM:PF11357:Spy1 -8 0.078 SQHIGH 9 34 43 0 41 41 C C T C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 441272 7 99917383 99917383 28 ALL relapse snv TNKS missense R311Q NM_003747 10-PARJZZ TNKS MISSENSE SNP Somatic PFAM:PF12796:Ank_2 9 0.389 SQHIGH 8 18 26 0 26 26 Cosmic_Gene G G A G G TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 8658 8 9473125 9473125 27 ALL relapse snv CYLC2 silent A319A NM_001340 10-PARJZZ CYLC2 SYNONYMOUS SNP Somatic -2 0.131 SQHIGH 4 25 29 0 49 49 Cosmic_Gene A A C A A TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 1539 9 105767870 105767870 18 ALL relapse snv ZNF618 silent A698A NM_133374 10-PARJZZ ZNF618 SYNONYMOUS SNP dbsnp.134:rs147007253 Somatic -6 0.092 SQHIGH 5 15 20 0 36 36 G G A G G TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 114991 9 116811955 116811955 24 ALL relapse snv MVB12B silent N109N NM_033446 10-PARJZZ MVB12B SYNONYMOUS SNP Somatic PFAM:PF10240:DUF2464 7 0.315 SQHIGH 10 15 25 0 41 41 C C T C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 89853 9 129148855 129148855 48 ALL relapse snv FRMD4A silent Q314Q NM_018027 10-PARJZZ FRMD4A SYNONYMOUS SNP Somatic 12 0.542 SQHIGH 14 24 38 0 76 76 Cosmic_Gene T T C T T TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 55691 10 13743373 13743373 75 ALL relapse snv FRMD4A missense G291R NM_018027 10-PARJZZ FRMD4A MISSENSE SNP Somatic 10 0.434 SQHIGH 15 28 43 2 56 58 Cosmic_Gene C C G C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 55691 10 13743444 13743444 45 ALL relapse snv NEBL missense V829M NM_006393 10-PARJZZ NEBL MISSENSE SNP Somatic -1 0.144 SQHIGH 7 11 18 0 27 27 Cosmic_Gene C C T C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 10529 10 21101731 21101731 32 ALL relapse snv NT5C2 missense R367Q NM_012229 10-PARJZZ NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 10 0.434 SQHIGH 16 32 48 0 47 47 C C T C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 22978 10 104852955 104852955 54 ALL relapse snv MADD silent T1314T NM_130470 10-PARJZZ MADD SYNONYMOUS SNP Somatic 5 0.253 SQHIGH 17 17 34 1 34 35 Cosmic_Gene A A T A A TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 8567 11 47331124 47331124 53 ALL relapse snv KRAS missense L23R NM_033360 10-PARJZZ KRAS MISSENSE SNP Somatic 6 0.285 SQHIGH 7 15 22 0 21 21 Cosmic_Gene A A C A A TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 3845 12 25398251 25398251 23 ALL relapse snv COL2A1 silent D1252D NM_001844 10-PARJZZ COL2A1 SYNONYMOUS SNP Somatic PFAM:PF01410:COLFI 12 0.542 SQHIGH 13 13 26 0 46 46 Cosmic_Gene G G A G G TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 1280 12 48369230 48369230 68 ALL relapse snv SMG1 missense S753C NM_015092 10-PARJZZ SMG1 MISSENSE SNP Somatic -8 0.078 SQHIGH 6 22 28 0 39 39 Cosmic_Gene G G C G G TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 23049 16 18882730 18882730 24 ALL relapse snv TMC7 missense L747I NM_001300732 10-PARJZZ TMC7 INTRON SNP Somatic 1 0.174 SQHIGH 8 21 29 0 36 36 Cosmic_Gene C C A C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 79905 16 19070949 19070949 31 ALL relapse snv SLC35B1 silent P174P NM_005827 10-PARJZZ SLC35B1 SYNONYMOUS SNP dbsnp.134:rs139526275 Somatic PFAM:PF08449:UAA 11 0.483 SQHIGH 15 27 42 0 52 52 C C T C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 10237 17 47782603 47782603 60 ALL relapse snv POLRMT missense G1118S NM_005035 10-PARJZZ POLRMT MISSENSE SNP dbsnp.134:rs143273183 Somatic PFAM:PF00940:RNA_pol 3 0.210 SQHIGH 10 22 32 0 35 35 Cosmic_Gene C C T C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 5442 19 618558 618558 36 ALL relapse snv HSH2D missense L203R NM_032855 10-PARJZZ HSH2D MISSENSE SNP Somatic 17 0.874 SQHIGH 10 12 22 0 36 36 T T G T T TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 84941 19 16268153 16268153 49 ALL relapse snv SLC4A11 missense G103R NM_032034 10-PARJZZ SLC4A11 MISSENSE SNP Somatic -1 0.144 SQHIGH 5 13 18 0 17 17 Cosmic_Gene C C G C C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 83959 20 3215246 3215246 16 ALL relapse snv CFAP61 missense S995T NM_015585 10-PARJZZ CFAP61 MISSENSE SNP Somatic -10 0.066 SQHIGH 3 13 16 0 39 39 Cosmic_Gene G G C G G TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 26074 20 20269440 20269440 17 ALL relapse snv KRTAP10-5 missense L261P NM_198694 10-PARJZZ TSPEAR|KRTAP10-5 INTRON|MISSENSE SNP Somatic -3 0.119 SQHIGH 6 25 31 0 24 24 Cosmic_Gene A A G A A TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 54084|386680 21 45999674 45999674 16 ALL diagnosis snv USH2A missense S1255R NM_007123 10-PARJZZ USH2A MISSENSE SNP Somatic 17 0.870 SQHIGH 11 20 31 0 39 39 Cosmic_Gene T T G T T TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 7399 1 216373017 216373017 44 ALL diagnosis snv MAGI1 silent I979I NM_015520 10-PARJZZ MAGI1 SYNONYMOUS SNP Somatic 1 0.135 SQHIGH 8 24 32 0 35 35 Cosmic_Gene G G T G G TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 9223 3 65365078 65365078 28 ALL diagnosis snv GRM1 missense V308I NM_001278064 10-PARJZZ GRM1 MISSENSE SNP dbsnp.132:rs112915383 Somatic PFAM:PF01094:ANF_receptor 1 0.135 SQHIGH 11 19 30 0 27 27 Cosmic_Gene G G A G G TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 2911 6 146480705 146480705 35 ALL diagnosis snv ZNF618 silent A698A NM_133374 10-PARJZZ ZNF618 SYNONYMOUS SNP dbsnp.134:rs147007253 Somatic 17 0.870 SQHIGH 17 16 33 0 36 36 G G A G G TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 114991 9 116811955 116811955 67 ALL diagnosis snv ZNF503 silent A416A NM_032772 10-PARJZZ ZNF503|ZNF503-AS2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -6 0.069 SQHIGH 5 9 14 0 20 20 Cosmic_Gene C C T C C TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 84858|100131213 10 77159200 77159200 21 ALL diagnosis snv KRAS missense G12D NM_033360 10-PARJZZ KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 12 0.494 SQHIGH 9 16 25 0 23 23 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 3845 12 25398284 25398284 29 ALL diagnosis snv QPRT missense R161C NM_014298 10-PARJZZ QPRT MISSENSE SNP Somatic -9 0.052 SQHIGH 5 5 10 0 18 18 C C T C C TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 23475 16 29706452 29706452 26 ALL diagnosis snv POLRMT missense G1118S NM_005035 10-PARJZZ POLRMT MISSENSE SNP dbsnp.134:rs143273183 Somatic PFAM:PF00940:RNA_pol 9 0.340 SQHIGH 12 17 29 0 35 35 Cosmic_Gene C C T C C TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 5442 19 618558 618558 48 ALL diagnosis snv MLLT1 silent S213S NM_005934 10-PARJZZ MLLT1 SYNONYMOUS SNP Somatic 1 0.135 SQHIGH 5 11 16 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 4298 19 6222603 6222603 24 ALL diagnosis snv HSH2D missense L203R NM_032855 10-PARJZZ HSH2D MISSENSE SNP Somatic 14 0.633 SQHIGH 11 24 35 0 36 36 T T G T T TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 84941 19 16268153 16268153 38 ALL diagnosis snv NUMBL missense G355S NM_004756 10-PARJZZ NUMBL MISSENSE SNP dbsnp.134:rs138049709 Somatic PFAM:PF06311:NumbF 6 0.238 SQHIGH 15 26 41 0 41 41 Cosmic_Gene C C T C C TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 9253 19 41175899 41175899 52 ALL diagnosis snv SUN2 missense M50L NM_015374 10-PARJZZ SUN2 MISSENSE SNP Somatic 6 0.238 SQHIGH 10 24 34 0 39 39 Cosmic_Gene T T A T T TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 25777 22 39147353 39147353 37 ALL diagnosis snv CHD5 silent G805G NM_015557 10-PARLAF CHD5 SYNONYMOUS SNP Somatic PFAM:PF00176:SNF2_N 6 0.293 SQHIGH 25 54 79 0 71 71 Cosmic_Gene C C T C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 26038 1 6202209 6202209 79 ALL diagnosis snv ALMS1 missense D1727H NM_015120 10-PARLAF ALMS1 MISSENSE SNP Somatic -1 0.130 SQHIGH 9 37 46 0 38 38 Cosmic_Gene G G C G G TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 7840 2 73678836 73678836 25 ALL diagnosis snv LOC101929064 EXON E4_exon NM_002753 10-PARLAF MAPK10 INTRON SNP Somatic 0 0.148 SQHIGH 9 30 39 0 22 22 Cosmic_Gene C C G C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 5602 4 87041611 87041611 19 ALL diagnosis snv QRFPR silent A3A NM_198179 10-PARLAF QRFPR SYNONYMOUS SNP Somatic 1 0.164 SQHIGH 10 37 47 0 43 43 C C T C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 84109 4 122301794 122301794 30 ALL diagnosis snv HCN1 silent L564L NM_021072 10-PARLAF HCN1 SYNONYMOUS SNP Somatic -5 0.082 SQHIGH 8 24 32 0 28 28 Cosmic_Gene A A G A A TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 348980 5 45267282 45267282 24 ALL diagnosis snv HIST1H2BE missense N68K NM_003523 10-PARLAF HIST1H2BE MISSENSE SNP Somatic PFAM:PF00808:CBFD_NFYB_HMF -10 0.051 SQHIGH 9 60 69 0 36 36 C C G C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 8344 6 26184227 26184227 17 ALL diagnosis snv POPDC3 missense H257Y NM_022361 10-PARLAF C6orf112|POPDC3 INTRON|MISSENSE,UTR SNP Somatic PFAM:PF04831:Popeye 7 0.329 SQHIGH 11 29 40 0 27 27 Cosmic_Gene G G A G G TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 154442|64208 6 105606452 105606452 27 ALL diagnosis snv ADAM22 missense R831G NM_021723 10-PARLAF ADAM22 MISSENSE SNP Somatic 6 0.293 SQHIGH 11 29 40 0 32 32 Cosmic_Gene C C G C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 53616 7 87810902 87810902 31 ALL diagnosis snv KCNU1 missense C487G NM_001031836 10-PARLAF KCNU1 MISSENSE SNP Somatic PFAM:PF03493:BK_channel_a 13 0.642 SQHIGH 15 26 41 0 29 29 Cosmic_Gene T T G T T TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 157855 8 36694404 36694404 41 ALL diagnosis snv CHAT missense G299R NM_001142929 10-PARLAF CHAT MISSENSE SNP Somatic PFAM:PF00755:Carn_acyltransf 13 0.642 SQHIGH 30 33 63 0 49 49 Cosmic_Gene G G A G G TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 1103 10 50854688 50854688 93 ALL diagnosis snv PLCE1 missense C1440F NM_016341 10-PARLAF PLCE1 MISSENSE SNP Somatic -3 0.101 SQHIGH 8 21 29 0 17 17 Cosmic_Gene G G T G G TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 51196 10 96028723 96028723 18 ALL diagnosis snv INTS5 missense D609N NM_030628 10-PARLAF INTS5|GANAB MISSENSE|TSS-UPSTREAM SNP Somatic 10 0.462 SQHIGH 16 33 49 1 32 33 Cosmic_Gene C C T C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 80789|23193 11 62415727 62415727 31 ALL diagnosis snv XRRA1 missense F20Y NM_182969 10-PARLAF XRRA1 MISSENSE SNP Somatic -8 0.062 SQHIGH 6 68 74 0 52 52 Cosmic_Gene A A T A A TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 143570 11 74651865 74651865 14 ALL diagnosis snv MTNR1B missense A52T NM_005959 10-PARLAF MTNR1B MISSENSE SNP Somatic PFAM:PF10320:7TM_GPCR_Srsx 0 0.148 SQHIGH 11 18 29 0 20 20 Cosmic_Gene G G A G G TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 4544 11 92703045 92703045 29 ALL diagnosis snv YAP1 missense E396K NM_001130145 10-PARLAF YAP1 MISSENSE SNP Somatic 6 0.293 SQHIGH 10 35 45 0 39 39 Cosmic_Gene G G A G G TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 10413 11 102098222 102098222 29 ALL diagnosis snv YAP1 silent E422E NM_001130145 10-PARLAF YAP1 SYNONYMOUS SNP Somatic 4 0.231 SQHIGH 13 37 50 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 10413 11 102098302 102098302 31 ALL diagnosis snv INTS6 missense E811Q NM_012141 10-PARLAF INTS6 MISSENSE SNP Somatic -8 0.062 SQHIGH 6 40 46 0 44 44 Cosmic_Gene C C G C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 26512 13 51943120 51943120 18 ALL diagnosis snv PCDH9 missense R537Q NM_203487 10-PARLAF LOC730236|PCDH9 TSS-UPSTREAM|MISSENSE SNP Somatic -5 0.082 SQHIGH 10 49 59 0 57 57 Cosmic_Gene C C T C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 730236|5101 13 67800963 67800963 31 ALL diagnosis snv UGGT2 missense E842Q NM_020121 10-PARLAF UGGT2 MISSENSE SNP Somatic 3 0.205 SQHIGH 8 13 21 0 18 18 Cosmic_Gene C C G C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 55757 13 96553171 96553171 25 ALL diagnosis snv TP53 missense R248Q NM_000546 10-PARLAF TP53 MISSENSE SNP dbsnp.120:rs11540652 Somatic 12 0.576 SQHIGH 9 23 32 0 52 52 COSMIC:mut:10662,COSMIC:mut:99020,COSMIC:mut:99021,COSMIC:mut:99602 Cosmic_Gene C C T C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 7157 17 7577538 7577538 41 ALL diagnosis snv L3MBTL4-AS1 EXON E5_exon NM_173464 10-PARLAF L3MBTL4 INTRON SNP Somatic 11 0.518 SQHIGH 36 49 85 0 53 53 Cosmic_Gene T T C T T TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 91133 18 6259309 6259309 92 ALL diagnosis snv CHGB silent S259S NM_001819 10-PARLAF CHGB SYNONYMOUS SNP Somatic PFAM:PF01271:Granin 9 0.414 SQHIGH 21 38 59 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 1114 20 5903567 5903567 63 ALL diagnosis mnv VAV3 missense L642_A643>FR NM_006113 10-PARLAF VAV3 MISSENSE Sub Somatic -8 0.353 SQHIGH 5 20 25 0 22 22 Cosmic_Gene GCT GCT CTG GCT GCT TARGET-10-PARLAF-09A-01D TARGET-10-PARLAF-10A-01D 10451 1 108160241 108160243 15 ALL diagnosis snv NEB missense V7332E NM_001164507 10-PARLEK NEB MISSENSE SNP Somatic PFAM:PF00880:Nebulin 0 0.102 SQHIGH 8 36 44 2 44 46 Cosmic_Gene A A T A A TARGET-10-PARLEK-03A-01D TARGET-10-PARLEK-10A-01D 4703 2 152382727 152382727 14 ALL diagnosis snv TMEM254 missense A6G NM_001270367 10-PARLEK LOC219347|C10orf57 UTR|INTRON SNP Somatic -10 0.044 SQHIGH 7 16 23 1 31 32 C C G C C TARGET-10-PARLEK-03A-01D TARGET-10-PARLEK-10A-01D 219347|80195 10 81838798 81838798 22 ALL diagnosis snv SNRNP200 missense I1673M NM_014014 10-PARLZG SNRNP200 MISSENSE SNP Somatic PFAM:PF00485:PRK 2 0.112 SQHIGH 14 38 52 0 59 59 Cosmic_Gene G G C G G TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 23020 2 96947557 96947557 51 ALL diagnosis snv MYO1G silent N952N NM_033054 10-PARLZG MYO1G SYNONYMOUS SNP Somatic PFAM:PF06017:Myosin_TH1 4 0.137 SQHIGH 10 21 31 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 64005 7 45002613 45002613 35 ALL diagnosis snv SLC17A6 missense I444V NM_020346 10-PARLZG SLC17A6 MISSENSE SNP Somatic 11 0.343 SQHIGH 13 29 42 0 39 39 Cosmic_Gene A A G A A TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 57084 11 22398135 22398135 42 ALL diagnosis snv TECTA missense E1841K NM_005422 10-PARLZG TECTA MISSENSE SNP Somatic PFAM:PF00100:Zona_pellucida 6 0.179 SQHIGH 18 50 68 0 73 73 Cosmic_Gene G G A G G TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 7007 11 121037424 121037424 63 ALL diagnosis snv ITPR2 splice_region G31_E2splice_region NM_002223 10-PARLZG ITPR2 ACCEPTOR SNP Somatic 16 0.747 SQHIGH 9 14 23 0 36 36 Cosmic_Gene G G C G G TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 3709 12 26943164 26943164 42 ALL diagnosis snv ZNF407 missense D2139N NM_017757 10-PARLZG ZNF407 MISSENSE SNP Somatic 3 0.123 SQHIGH 23 52 75 0 53 54 Cosmic_Gene G G A G G TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 55628 18 72776092 72776092 61 ALL diagnosis mnv ALDH8A1 missense T162_W163>TL NM_022568 10-PARLZG ALDH8A1 INTRON,MISSENSE Sub Somatic PFAM:PF00171:Aldedh -21 0.095 4 41 45 0 59 59 Cosmic_Gene CAG CAG AGA CAG CAG TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 64577 6 135260508 135260510 15 ALL diagnosis mnv AR missense S207G NM_000044 10-PARLZG AR MISSENSE Sub Somatic PFAM:PF02166:Androgen_recep -10 0.205 SQHIGH 4 9 13 1 25 26 Cosmic_Gene AGC AGC GGG AGC AGC TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 367 X 66765607 66765609 15 ALL relapse snv VIT missense K142N NM_053276 10-PARLZG VIT MISSENSE SNP Somatic 5 0.158 SQHIGH 16 48 64 0 70 70 Cosmic_Gene G G T G G TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 5212 2 36986128 36986128 56 ALL relapse snv SNRNP200 missense I1673M NM_014014 10-PARLZG SNRNP200 MISSENSE SNP Somatic PFAM:PF00485:PRK 5 0.158 SQHIGH 17 37 54 0 59 59 Cosmic_Gene G G C G G TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 23020 2 96947557 96947557 61 ALL relapse snv BBX silent A60A NM_001142568 10-PARLZG BBX SYNONYMOUS SNP dbsnp.134:rs150018279 Somatic 3 0.124 SQHIGH 11 31 42 1 50 51 Cosmic_Gene C C T C C TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 56987 3 107435471 107435471 33 ALL relapse snv TTC14 silent G36G NM_133462 10-PARLZG TTC14 SYNONYMOUS SNP Somatic -7 0.050 SQHIGH 10 24 34 0 32 32 Cosmic_Gene G G T G G TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 151613 3 180320157 180320157 32 ALL relapse snv ERBB2IP missense P731A NM_018695 10-PARLZG ERBB2IP MISSENSE SNP Somatic 7 0.202 SQHIGH 10 27 37 0 27 27 Cosmic_Gene C C G C C TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 55914 5 65349337 65349337 26 ALL relapse snv CDHR2 silent T510T NM_001171976 10-PARLZG CDHR2 SYNONYMOUS SNP Somatic 7 0.202 SQHIGH 21 35 56 0 47 47 Cosmic_Gene G G A G G TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 54825 5 176005052 176005052 65 ALL relapse snv PAX5 missense R38H NM_016734 10-PARLZG PAX5 MISSENSE SNP Somatic 2 0.113 SQHIGH 14 39 53 0 59 59 Cosmic_Gene C C T C C TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 5079 9 37020732 37020732 50 ALL relapse snv PNPLA7 missense G1342R NM_001098537 10-PARLZG NELF|PNPLA7 TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.050 SQHIGH 9 52 61 0 59 59 Cosmic_Gene C C G C C TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 26012|375775 9 140354850 140354850 28 ALL relapse snv ABCC8 missense S1039N NM_000352 10-PARLZG ABCC8 MISSENSE SNP Somatic 6 0.180 SQHIGH 16 52 68 0 59 59 Cosmic_Gene C C T C C TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 6833 11 17428481 17428481 47 ALL relapse snv TECTA missense E1841K NM_005422 10-PARLZG TECTA MISSENSE SNP Somatic PFAM:PF00100:Zona_pellucida 5 0.158 SQHIGH 18 38 56 0 73 73 Cosmic_Gene G G A G G TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 7007 11 121037424 121037424 73 ALL relapse snv ITPR2 splice_region G31_E2splice_region NM_002223 10-PARLZG ITPR2 ACCEPTOR SNP Somatic -3 0.069 SQHIGH 5 27 32 0 36 36 Cosmic_Gene G G C G G TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 3709 12 26943164 26943164 17 ALL relapse snv RILPL1 missense V302M NM_178314 10-PARLZG RILPL1 MISSENSE SNP Somatic PFAM:PF11461:RILP -8 0.046 SQHIGH 6 39 45 0 34 34 C C T C C TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 353116 12 123970250 123970250 15 ALL relapse snv SPTBN5 missense L3327V NM_016642 10-PARLZG SPTBN5 MISSENSE SNP Somatic -9 0.042 SQHIGH 4 19 23 0 25 25 Cosmic_Gene G G C G G TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 51332 15 42145781 42145781 13 ALL relapse snv CDH11 missense D422N NM_001797 10-PARLZG CDH11 MISSENSE SNP Somatic 3 0.124 SQHIGH 13 38 51 0 49 49 Cosmic_Gene C C T C C TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 1009 16 65006933 65006933 42 ALL relapse snv GATA5 missense R256P NM_080473 10-PARLZG GATA5 MISSENSE SNP Somatic -10 0.038 SQHIGH 7 32 39 0 43 43 C C G C C TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 140628 20 61041540 61041540 24 ALL relapse snv TRPM2 splice V1424_E31splice NM_003307 10-PARLZG TRPM2 DISRUPT SNP Somatic 2 0.113 SQHIGH 11 46 57 0 58 58 Cosmic_Gene A A C A A TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 7226 21 45860670 45860670 36 ALL relapse snv ALAS2 missense K439N NM_000032 10-PARLZG ALAS2 MISSENSE SNP Somatic 12 0.395 SQHIGH 19 25 44 1 48 49 Cosmic_Gene C C G C C TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 212 X 55041300 55041300 62 ALL relapse snv PHF6 missense G275R NM_001015877 10-PARLZG PHF6 MISSENSE SNP Somatic 3 0.124 SQHIGH 5 9 14 0 18 18 Cosmic_Gene G G A G G TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 84295 X 133549139 133549139 20 ALL relapse snv OBSCN missense G6905R NM_001098623 10-PARMSP OBSCN MISSENSE SNP Somatic 6 0.251 SQHIGH 13 11 24 0 25 25 Cosmic_Gene G G A G G TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 84033 1 228559192 228559192 50 ALL relapse snv SLITRK3 missense Q626H NM_014926 10-PARMSP SLITRK3 MISSENSE SNP Somatic 8 0.318 SQHIGH 18 53 71 1 62 63 Cosmic_Gene C C A C C TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 22865 3 164906741 164906741 44 ALL relapse snv OSMR silent L932L NM_003999 10-PARMSP OSMR SYNONYMOUS SNP Somatic -5 0.095 SQHIGH 11 46 57 0 66 66 Cosmic_Gene C C T C C TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 9180 5 38933402 38933402 39 ALL relapse snv HLA-DQA2 missense G228V NM_020056 10-PARMSP HLA-DQA2 MISSENSE SNP Somatic 7 0.287 SQHIGH 24 29 53 1 65 66 G G T G G TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 3118 6 32714086 32714086 88 ALL relapse snv CDH23 missense A1464V NM_022124 10-PARMSP CDH23|C10orf105 MISSENSE|TSS-UPSTREAM SNP Somatic 9 0.351 SQHIGH 26 33 59 0 75 75 Cosmic_Gene C C T C C TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 64072|414152 10 73499432 73499432 110 ALL relapse snv PI4K2A silent L291L NM_018425 10-PARMSP PI4K2A SYNONYMOUS SNP Somatic PFAM:PF00454:PI3_PI4_kinase -6 0.089 SQHIGH 4 29 33 0 60 60 Cosmic_Gene G G A G G TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 55361 10 99416682 99416682 19 ALL relapse snv ELF5 silent R248R NM_198381 10-PARMSP ELF5 SYNONYMOUS SNP Somatic PFAM:PF00178:Ets 15 0.694 SQHIGH 32 26 58 0 55 55 Cosmic_Gene C C T C C TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 2001 11 34501819 34501819 118 ALL relapse snv IQSEC3 missense R339H NM_001170738 10-PARMSP IQSEC3|LOC574538 MISSENSE|UTR SNP Somatic 20 0.986 SQHIGH 23 14 37 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 440073|574538 12 247545 247545 114 ALL relapse snv KMT2D splice R371_E8splice NM_003482 10-PARMSP KMT2D DISRUPT SNP Somatic 1 0.156 SQHIGH 9 53 62 0 102 102 Cosmic_Gene C C T C C TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 8085 12 49446697 49446697 40 ALL relapse snv TP53 missense R175H NM_000546 10-PARMSP TP53 MISSENSE SNP dbsnp.125:rs28934578 Somatic 12 0.484 SQHIGH 19 4 23 0 44 44 COSMIC:mut:99022,COSMIC:mut:99914,COSMIC:mut:99023,COSMIC:mut:10648,COSMIC:mut:99024 Cosmic_Gene C C T C C TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 7157 17 7578406 7578406 124 ALL relapse snv SSC5D silent T1279T NM_001144950 10-PARMSP SSC5D SYNONYMOUS SNP Somatic 1 0.156 SQHIGH 4 25 29 0 38 38 G G A G G TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 284297 19 56029480 56029480 15 ALL relapse snv CARD10 missense Y377H NM_014550 10-PARMSP CARD10 MISSENSE SNP Somatic 7 0.287 SQHIGH 22 39 61 0 91 91 Cosmic_Gene A A G A A TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 29775 22 37903898 37903898 99 ALL relapse mnv MPHOSPH9 missense A604_R605>VF NM_022782 10-PARMSP MPHOSPH9 MISSENSE Sub Somatic -1 0.602 SQHIGH 5 19 24 1 37 38 TCGAG TCGAG GAAGA TCGAG TCGAG TARGET-10-PARMSP-04A-01D TARGET-10-PARMSP-14A-01D 10198 12 123686833 123686837 15 ALL diagnosis snv OBSCN missense G6905R NM_001098623 10-PARMSP OBSCN MISSENSE SNP Somatic 6 0.222 SQHIGH 13 17 30 0 25 25 Cosmic_Gene G G A G G TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 84033 1 228559192 228559192 41 ALL diagnosis snv HLA-DQA2 missense G228V NM_020056 10-PARMSP HLA-DQA2 MISSENSE SNP Somatic 7 0.252 SQHIGH 27 37 64 1 65 66 G G T G G TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 3118 6 32714086 32714086 86 ALL diagnosis snv CDH23 missense A1464V NM_022124 10-PARMSP CDH23|C10orf105 MISSENSE|TSS-UPSTREAM SNP Somatic 9 0.311 SQHIGH 39 44 83 0 75 75 Cosmic_Gene C C T C C TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 64072|414152 10 73499432 73499432 134 ALL diagnosis snv MKI67 missense A1381T NM_002417 10-PARMSP MKI67 MISSENSE SNP Somatic PFAM:PF08065:K167R 4 0.179 SQHIGH 4 30 34 0 39 39 Cosmic_Gene C C T C C TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 4288 10 129905963 129905963 14 ALL diagnosis snv ELF5 silent R248R NM_198381 10-PARMSP ELF5 SYNONYMOUS SNP Somatic PFAM:PF00178:Ets 8 0.279 SQHIGH 18 36 54 0 55 55 Cosmic_Gene C C T C C TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 2001 11 34501819 34501819 62 ALL diagnosis snv IQSEC3 missense R339H NM_001170738 10-PARMSP IQSEC3|LOC574538 MISSENSE|UTR SNP Somatic 6 0.222 SQHIGH 13 44 57 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 440073|574538 12 247545 247545 40 ALL diagnosis snv NOVA1 missense A402V NM_002515 10-PARMSP NOVA1 MISSENSE SNP Somatic 3 0.163 SQHIGH 12 61 73 0 61 61 Cosmic_Gene G G A G G TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 4857 14 26917484 26917484 34 ALL diagnosis snv ABR splice_region I618_E18splice_region NM_021962 10-PARMSP ABR ACCEPTOR SNP Somatic 12 0.442 SQHIGH 12 21 33 1 48 49 Cosmic_Gene G G A G G TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 29 17 916046 916046 44 ALL diagnosis snv CARD10 missense Y377H NM_014550 10-PARMSP CARD10 MISSENSE SNP Somatic 5 0.198 SQHIGH 41 60 101 0 91 91 Cosmic_Gene A A G A A TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 29775 22 37903898 37903898 136 ALL diagnosis mnv ALPI missense L317V NM_001631 10-PARMSP ALPI MISSENSE Sub Somatic -9 0.300 SQHIGH 9 47 56 0 48 48 Cosmic_Gene CTG CTG GTC CTG CTG TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 248 2 233322800 233322802 26 ALL diagnosis snv CFAP74 silent G754G NM_001080484 10-PARMXF CFAP74 SYNONYMOUS SNP Somatic 4 0.184 SQHIGH 25 23 48 1 42 43 Cosmic_Gene T T C T T TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 85452 1 1887044 1887044 75 ALL diagnosis snv MLPH silent X601X NM_024101 10-PARMXF MLPH SYNONYMOUS SNP Somatic 9 0.309 SQHIGH 25 44 69 0 57 57 Cosmic_Gene A A G A A TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 79083 2 238462234 238462234 76 ALL diagnosis snv CYP8B1 missense R28H NM_004391 10-PARMXF CYP8B1 MISSENSE SNP Somatic 7 0.252 SQHIGH 22 30 52 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 1582 3 42917226 42917226 74 ALL diagnosis snv CELSR3 missense C1961F NM_001407 10-PARMXF CELSR3 MISSENSE SNP Somatic 8 0.278 SQHIGH 32 31 63 0 37 37 Cosmic_Gene C C A C C TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 1951 3 48689351 48689351 82 ALL diagnosis snv VCAN missense P1047S NM_004385 10-PARMXF VCAN INTRON,MISSENSE SNP Somatic 9 0.309 SQHIGH 23 27 50 1 49 50 Cosmic_Gene C C T C C TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 1462 5 82817264 82817264 72 ALL diagnosis snv KIAA1244 missense R1397H NM_020340 10-PARMXF KIAA1244 MISSENSE SNP Somatic 10 0.346 SQHIGH 8 14 22 1 20 21 Cosmic_Gene G G A G G TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 57221 6 138632637 138632637 19 ALL diagnosis snv WTAP missense V37A NM_004906 10-PARMXF WTAP MISSENSE SNP Somatic 2 0.155 SQHIGH 10 17 27 0 30 30 T T C T T TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 9589 6 160163143 160163143 37 ALL diagnosis snv FDPSP2 EXON E3_exon NM_020892 10-PARMXF DTX2|FDPSL2A INTRON|UTR SNP Somatic -10 0.058 SQHIGH 3 6 9 0 16 16 Cosmic_Gene A A G A A TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 113878|619190 7 76103458 76103458 14 ALL diagnosis snv MAGI2 silent H847H NM_012301 10-PARMXF MAGI2 SYNONYMOUS SNP Somatic 14 0.571 SQHIGH 14 20 34 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 9863 7 77797288 77797288 47 ALL diagnosis snv PCLO missense I4026M NM_033026 10-PARMXF PCLO MISSENSE SNP Somatic 13 0.495 SQHIGH 18 31 49 0 63 63 Cosmic_Gene T T C T T TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 27445 7 82545224 82545224 74 ALL diagnosis snv HDAC7 missense L61P NM_015401 10-PARMXF HDAC7 MISSENSE SNP Somatic -10 0.058 SQHIGH 6 21 27 0 27 27 Cosmic_Gene A A G A A TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 51564 12 48192644 48192644 19 ALL diagnosis snv RIMBP2 splice M152_E6splice NM_015347 10-PARMXF RIMBP2 DISRUPT SNP Somatic 5 0.200 SQHIGH 39 55 94 1 90 91 Cosmic_Gene C C A C C TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 23504 12 130934822 130934822 122 ALL diagnosis snv MYCBP2 missense D2560N NM_015057 10-PARMXF MYCBP2 MISSENSE SNP Somatic -4 0.090 SQHIGH 4 10 14 0 17 17 Cosmic_Gene C C T C C TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 23077 13 77700659 77700659 15 ALL diagnosis snv RTTN missense D1074E NM_173630 10-PARMXF RTTN MISSENSE SNP Somatic -6 0.079 SQHIGH 4 16 20 0 22 22 Cosmic_Gene G G C G G TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 25914 18 67794899 67794899 14 ALL diagnosis snv ERF missense Q43R NM_006494 10-PARMXF ERF MISSENSE SNP Somatic PFAM:PF00178:Ets -9 0.063 SQHIGH 5 23 28 0 22 22 Cosmic_Gene T T C T T TARGET-10-PARMXF-09A-01D TARGET-10-PARMXF-10A-01D 2077 19 42754612 42754612 13 ALL diagnosis snv PLEKHN1 missense R180H NM_032129 10-PARNMF PLEKHN1 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 -8 0.045 SQHIGH 5 26 31 0 24 24 G G A G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 84069 1 906313 906313 13 ALL diagnosis snv CFAP74 splice_region Q467_E12splice_region NM_001080484 10-PARNMF CFAP74 DONOR SNP Somatic 3 0.120 SQHIGH 17 58 75 0 53 53 Cosmic_Gene G G C G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 85452 1 1897805 1897805 43 ALL diagnosis snv PLEKHG5 missense R202C NM_020631 10-PARNMF PLEKHG5 MISSENSE SNP Somatic 9 0.251 SQHIGH 21 23 44 0 55 55 Cosmic_Gene G G A G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 57449 1 6533502 6533502 89 ALL diagnosis snv CCDC18 missense E289K NM_206886 10-PARNMF CCDC18 MISSENSE SNP Somatic -1 0.081 SQHIGH 6 28 34 0 36 36 Cosmic_Gene G G A G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 343099 1 93671136 93671136 20 ALL diagnosis snv CCDC181 missense E101K NM_021179 10-PARNMF CCDC181 MISSENSE SNP Somatic -5 0.057 SQHIGH 8 45 53 0 39 39 C C T C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 57821 1 169391368 169391368 20 ALL diagnosis snv YIPF4 missense S195C NM_032312 10-PARNMF YIPF4 MISSENSE SNP Somatic PFAM:PF04893:Yip1 15 0.636 SQHIGH 8 21 29 0 42 42 C C G C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 84272 2 32526551 32526551 34 ALL diagnosis snv OXER1 missense S358C NM_148962 10-PARNMF OXER1 MISSENSE SNP Somatic 2 0.109 SQHIGH 6 21 27 1 31 32 Cosmic_Gene G G C G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 165140 2 42990247 42990247 15 ALL diagnosis snv DYSF missense R419W NM_001130987 10-PARNMF DYSF MISSENSE SNP Somatic 1 0.098 SQHIGH 5 14 19 0 25 25 Cosmic_Gene C C T C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 8291 2 71753455 71753455 20 ALL diagnosis snv WHSC1 missense E1099K NM_133330 10-PARNMF WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET 5 0.147 SQHIGH 18 33 51 0 40 40 Cosmic_Gene G G A G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 7468 4 1962801 1962801 52 ALL diagnosis snv CPE nonsense S424* NM_001873 10-PARNMF CPE NONSENSE SNP Somatic -3 0.067 SQHIGH 7 17 24 0 19 19 Cosmic_Gene C C G C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 1363 4 166416768 166416768 20 ALL diagnosis snv B3GALT4 missense R91G NM_003782 10-PARNMF B3GALT4 MISSENSE SNP Somatic PFAM:PF01762:Galactosyl_T 14 0.521 SQHIGH 13 21 34 0 30 30 Cosmic_Gene C C G C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 8705 6 33245467 33245467 42 ALL diagnosis snv NDOR1 splice D282_E7splice NM_001144026 10-PARNMF NDOR1 MISSENSE SNP Somatic PFAM:PF00175:NAD_binding_1 PFAM:PF00667:FAD_binding_1 0 0.090 SQHIGH 15 45 60 0 38 38 G G C G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 27158 9 140109143 140109143 35 ALL diagnosis snv C1QL3 missense E80Q NM_001010908 10-PARNMF C1QL3 MISSENSE SNP Somatic 4 0.133 SQHIGH 6 27 33 0 21 21 Cosmic_Gene C C G C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 389941 10 16562827 16562827 14 ALL diagnosis snv ADAMTS14 missense G574R NM_139155 10-PARNMF ADAMTS14 MISSENSE SNP Somatic 2 0.109 SQHIGH 12 66 78 0 56 56 Cosmic_Gene G G A G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 140766 10 72498709 72498709 30 ALL diagnosis snv WAPAL silent L398L NM_015045 10-PARNMF WAPAL SYNONYMOUS SNP Somatic -1 0.081 SQHIGH 8 44 52 0 49 49 Cosmic_Gene G G C G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 23063 10 88259806 88259806 24 ALL diagnosis snv TUB splice R388_E10splice NM_003320 10-PARNMF TUB ACCEPTOR SNP Somatic 5 0.147 SQHIGH 15 46 61 0 85 85 Cosmic_Gene C C G C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 7275 11 8120302 8120302 62 ALL diagnosis snv DBX1 missense E336K NM_001029865 10-PARNMF DBX1 MISSENSE SNP Somatic 3 0.120 SQHIGH 13 58 71 0 81 81 Cosmic_Gene C C T C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 120237 11 20177786 20177786 46 ALL diagnosis snv BBOX1 silent P39P NM_003986 10-PARNMF BBOX1 SYNONYMOUS SNP dbsnp.134:rs144522986 Somatic PFAM:PF06155:DUF971 4 0.133 SQHIGH 10 35 45 0 34 34 Cosmic_Gene G G A G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 8424 11 27077094 27077094 27 ALL diagnosis snv CAPRIN1 silent V102V NM_005898 10-PARNMF CAPRIN1 SYNONYMOUS SNP Somatic -1 0.081 SQHIGH 6 33 39 0 45 45 Cosmic_Gene C C G C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 4076 11 34093474 34093474 21 ALL diagnosis snv DNAH10 silent R3482R NM_207437 10-PARNMF DNAH10 SYNONYMOUS SNP Somatic PFAM:PF12781:AAA_9 15 0.636 SQHIGH 37 33 70 0 73 73 Cosmic_Gene C C T C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 196385 12 124401081 124401081 144 ALL diagnosis snv DHRS4L2 missense V61A NM_198083 10-PARNMF DHRS4L2 UTR5,MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD 8 0.221 SQHIGH 10 21 31 0 25 25 Cosmic_Gene T T C T T TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 317749 14 24459444 24459444 29 ALL diagnosis snv KDM6B silent L1133L NM_001080424 10-PARNMF KDM6B SYNONYMOUS SNP Somatic 15 0.636 SQHIGH 14 19 33 0 32 32 Cosmic_Gene C C T C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 23135 17 7753005 7753005 49 ALL diagnosis snv PTRH2 missense H88Y NM_016077 10-PARNMF PTRH2 MISSENSE SNP Somatic PFAM:PF01981:PTH2 -7 0.050 SQHIGH 7 42 49 0 47 47 G G A G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 51651 17 57775078 57775078 21 ALL diagnosis snv MKNK2 missense E398K NM_199054 10-PARNMF MKNK2 INTRON,MISSENSE SNP Somatic 1 0.098 SQHIGH 12 50 62 0 52 52 Cosmic_Gene C C T C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 2872 19 2039818 2039818 34 ALL diagnosis snv UBXN6 missense E298Q NM_025241 10-PARNMF UBXN6 MISSENSE SNP Somatic 12 0.379 SQHIGH 17 27 44 0 31 31 C C G C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 80700 19 4446525 4446525 46 ALL diagnosis snv PLIN5 splice A174_E5splice NM_001013706 10-PARNMF PLIN5 MISSENSE SNP Somatic PFAM:PF03036:Perilipin 6 0.173 SQHIGH 20 39 59 3 60 63 C C T C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 440503 19 4529085 4529085 45 ALL diagnosis snv MIA missense A56V NM_006533 10-PARNMF MIA-RAB4B|MIA|RAB4B|RAB4B-EGLN2 UTR|MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 2 0.109 SQHIGH 16 45 61 1 44 45 Cosmic_Gene C C T C C TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 100529262|8190|53916|100529264 19 41281696 41281696 33 ALL diagnosis snv CELSR1 silent T625T NM_014246 10-PARNMF CELSR1 SYNONYMOUS SNP Somatic -7 0.050 SQHIGH 5 59 64 0 59 59 Cosmic_Gene G G A G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 9620 22 46931193 46931193 15 ALL diagnosis complex PTH2 frameshift V96fs NM_178449 10-PARNMF PTH2|LOC100507003 FRAMESHIFT|TSS-UPSTREAM Sub Somatic -2 0.437 SQHIGH 12 25 37 0 47 47 ACAC ACAC AG ACAC ACAC TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 113091|100507003 19 49925739 49925742 48 ALL relapse snv PLEKHN1 missense R180H NM_032129 10-PARNMF PLEKHN1 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 1 0.105 SQHIGH 18 8 26 0 24 24 G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 84069 1 906313 906313 71 ALL relapse snv PLEKHG5 missense R202C NM_020631 10-PARNMF PLEKHG5 MISSENSE SNP Somatic 6 0.181 SQHIGH 27 36 63 0 55 55 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 57449 1 6533502 6533502 88 ALL relapse snv SLFNL1 missense E22K NM_144990 10-PARNMF LOC100507178|SLFNL1 INTRON|MISSENSE SNP Somatic 18 0.876 SQHIGH 18 21 39 0 31 31 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 100507178|200172 1 41486269 41486269 56 ALL relapse snv FAF1 splice_region E280_E9splice_region NM_007051 10-PARNMF FAF1 DONOR SNP Somatic 9 0.259 SQHIGH 11 18 29 1 58 59 Cosmic_Gene T T C T T TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 11124 1 51061790 51061790 50 ALL relapse snv FAF1 missense R275W NM_007051 10-PARNMF FAF1 MISSENSE SNP dbsnp.134:rs148072719 Somatic -2 0.080 SQHIGH 13 27 40 0 50 50 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 11124 1 51061810 51061810 51 ALL relapse snv BARHL2 missense G36R NM_020063 10-PARNMF BARHL2 MISSENSE SNP Somatic 3 0.128 SQHIGH 29 20 49 1 43 44 Cosmic_Gene C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 343472 1 91182647 91182647 92 ALL relapse snv CCDC18 missense E289K NM_206886 10-PARNMF CCDC18 MISSENSE SNP Somatic 0 0.096 SQHIGH 5 11 16 0 36 36 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 343099 1 93671136 93671136 28 ALL relapse snv GPR61 silent A40A NM_031936 10-PARNMF GPR61 SYNONYMOUS SNP Somatic 0 0.096 SQHIGH 14 54 68 0 43 43 Cosmic_Gene T T C T T TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 83873 1 110085764 110085764 32 ALL relapse snv OR6K3 missense E198Q NM_001005327 10-PARNMF OR6K3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 17 0.830 SQHIGH 32 36 68 0 65 65 Cosmic_Gene C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 391114 1 158687314 158687314 114 ALL relapse snv USH2A silent G160G NM_007123 10-PARNMF USH2A SYNONYMOUS SNP Somatic PFAM:PF00354:Pentaxin 14 0.526 SQHIGH 25 28 53 1 29 30 Cosmic_Gene A A G A A TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 7399 1 216595199 216595199 49 ALL relapse snv EXOC8 missense Q350H NM_175876 10-PARNMF C1orf124|EXOC8 TSS-UPSTREAM|MISSENSE SNP Somatic 14 0.526 SQHIGH 22 23 45 0 38 38 Cosmic_Gene C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 83932|149371 1 231472442 231472442 72 ALL relapse snv ASAP2 missense Q732K NM_003887 10-PARNMF ASAP2 MISSENSE SNP Somatic 10 0.293 SQHIGH 19 24 43 0 47 47 C C A C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 8853 2 9528486 9528486 73 ALL relapse snv YIPF4 missense S195C NM_032312 10-PARNMF YIPF4 MISSENSE SNP Somatic PFAM:PF04893:Yip1 20 1.000 SQHIGH 16 18 34 0 42 42 C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 84272 2 32526551 32526551 67 ALL relapse snv OXER1 missense S358C NM_148962 10-PARNMF OXER1 MISSENSE SNP Somatic 9 0.259 SQHIGH 13 15 28 1 31 32 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 165140 2 42990247 42990247 41 ALL relapse snv DYSF missense R419W NM_001130987 10-PARNMF DYSF MISSENSE SNP Somatic -7 0.053 SQHIGH 5 7 12 0 25 25 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 8291 2 71753455 71753455 27 ALL relapse snv FAP missense R590G NM_004460 10-PARNMF FAP MISSENSE SNP Somatic PFAM:PF06342:DUF1057 6 0.181 SQHIGH 13 23 36 0 44 44 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 2191 2 163044725 163044725 51 ALL relapse snv KIAA2012 missense M574I NM_001277372 10-PARNMF KIAA2012 MISSENSE SNP Somatic 6 0.181 SQHIGH 11 7 18 0 26 26 G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 100652824 2 202974478 202974478 54 ALL relapse snv ZNF142 missense G822R NM_001105537 10-PARNMF ZNF142 MISSENSE SNP Somatic 13 0.447 SQHIGH 38 42 80 0 61 61 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 7701 2 219508775 219508775 116 ALL relapse snv CAPN10 missense E121K NM_023083 10-PARNMF CAPN10 MISSENSE SNP Somatic 13 0.447 SQHIGH 20 26 46 0 60 60 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 11132 2 241530319 241530319 85 ALL relapse snv WHSC1 missense E1099K NM_133330 10-PARNMF WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET 9 0.259 SQHIGH 27 30 57 0 40 40 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 7468 4 1962801 1962801 77 ALL relapse snv METAP1 nonsense Q385* NM_015143 10-PARNMF METAP1 NONSENSE SNP Somatic 12 0.388 SQHIGH 17 24 41 0 75 75 C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 23173 4 99982460 99982460 88 ALL relapse snv USP53 missense G514A NM_019050 10-PARNMF USP53 MISSENSE SNP Somatic 4 0.141 SQHIGH 15 16 31 0 39 39 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 54532 4 120192556 120192556 64 ALL relapse snv USP53 missense E631D NM_019050 10-PARNMF USP53 MISSENSE SNP Somatic 14 0.526 SQHIGH 26 18 44 0 51 51 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 54532 4 120192908 120192908 112 ALL relapse snv B3GALT4 missense R91G NM_003782 10-PARNMF B3GALT4 MISSENSE SNP Somatic PFAM:PF01762:Galactosyl_T 15 0.620 SQHIGH 17 17 34 0 30 30 Cosmic_Gene C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 8705 6 33245467 33245467 58 ALL relapse snv ECT2L splice_region S701_E18splice_region NM_001077706 10-PARNMF ECT2L ACCEPTOR SNP Somatic 12 0.388 SQHIGH 13 18 31 0 30 30 C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 345930 6 139206804 139206804 45 ALL relapse snv CYP2W1 silent L311L NM_017781 10-PARNMF CYP2W1 SYNONYMOUS SNP Somatic PFAM:PF00067:p450 16 0.699 SQHIGH 18 13 31 0 37 37 G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 54905 7 1026856 1026856 78 ALL relapse snv C7orf25 missense R282T NM_001099858 10-PARNMF C7orf25 MISSENSE SNP Somatic PFAM:PF07000:DUF1308 5 0.155 SQHIGH 28 42 70 0 51 51 Cosmic_Gene C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 79020 7 42949829 42949829 79 ALL relapse snv CACNA2D1 missense P1067A NM_000722 10-PARNMF CACNA2D1 MISSENSE SNP Somatic 11 0.335 SQHIGH 22 15 37 0 44 44 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 781 7 81579785 81579785 96 ALL relapse snv RELN missense R1352T NM_005045 10-PARNMF RELN MISSENSE SNP Somatic 20 1.000 SQHIGH 18 17 35 0 42 42 Cosmic_Gene C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 5649 7 103230133 103230133 76 ALL relapse snv OSR2 silent R120R NM_001286841 10-PARNMF OSR2 UTR5 SNP Somatic 7 0.204 SQHIGH 25 28 53 0 43 43 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 116039 8 99961177 99961177 79 ALL relapse snv RIMS2 missense V20F NM_001282881 10-PARNMF RIMS2 INTRON,MISSENSE SNP Somatic -1 0.087 SQHIGH 8 12 20 0 26 26 Cosmic_Gene G G T G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 9699 8 104831793 104831793 33 ALL relapse snv PPP1R26 silent Q893Q NM_014811 10-PARNMF PPP1R26 SYNONYMOUS SNP Somatic -8 0.049 SQHIGH 6 25 31 0 37 37 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 9858 9 138379035 138379035 22 ALL relapse snv SEC16A silent P146P NM_014866 10-PARNMF SEC16A SYNONYMOUS SNP Somatic 12 0.388 SQHIGH 24 31 55 0 67 67 G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 9919 9 139371630 139371630 98 ALL relapse snv C1QL3 missense E80Q NM_001010908 10-PARNMF C1QL3 MISSENSE SNP Somatic 11 0.335 SQHIGH 12 17 29 0 21 21 Cosmic_Gene C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 389941 10 16562827 16562827 34 ALL relapse snv ADAMTS14 missense G574R NM_139155 10-PARNMF ADAMTS14 MISSENSE SNP Somatic 9 0.259 SQHIGH 27 22 49 0 56 56 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 140766 10 72498709 72498709 112 ALL relapse snv WAPAL silent L398L NM_015045 10-PARNMF WAPAL SYNONYMOUS SNP Somatic 6 0.181 SQHIGH 19 33 52 0 49 49 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 23063 10 88259806 88259806 63 ALL relapse snv SFXN4 missense E4K NM_213649 10-PARNMF SFXN4 MISSENSE SNP Somatic 12 0.388 SQHIGH 24 33 57 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 119559 10 120925150 120925150 87 ALL relapse snv TSPAN4 silent T143T NM_001025237 10-PARNMF TSPAN4 SYNONYMOUS SNP Somatic PFAM:PF00335:Tetraspannin 13 0.447 SQHIGH 13 20 33 0 31 31 Cosmic_Gene C C A C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 7106 11 865611 865611 44 ALL relapse snv TUB splice R388_E10splice NM_003320 10-PARNMF TUB ACCEPTOR SNP Somatic 12 0.388 SQHIGH 36 38 74 0 85 85 Cosmic_Gene C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 7275 11 8120302 8120302 146 ALL relapse snv BBOX1 silent P39P NM_003986 10-PARNMF BBOX1 SYNONYMOUS SNP dbsnp.134:rs144522986 Somatic PFAM:PF06155:DUF971 14 0.526 SQHIGH 20 24 44 0 34 34 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 8424 11 27077094 27077094 61 ALL relapse snv LGR4 silent F931F NM_018490 10-PARNMF LGR4|CCDC34 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 19 0.944 SQHIGH 13 13 26 0 46 46 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 55366|91057 11 27389477 27389477 68 ALL relapse snv CAPRIN1 silent V102V NM_005898 10-PARNMF CAPRIN1 SYNONYMOUS SNP Somatic 9 0.259 SQHIGH 16 16 32 0 45 45 Cosmic_Gene C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 4076 11 34093474 34093474 74 ALL relapse snv SLC1A2 nonsense S106* NM_004171 10-PARNMF SLC1A2 NONSENSE SNP Somatic PFAM:PF00375:SDF 13 0.447 SQHIGH 17 23 40 0 41 41 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 6506 11 35333989 35333989 62 ALL relapse snv OR4C16 missense Q157H NM_001004701 10-PARNMF OR4C16 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 15 0.620 SQHIGH 33 34 67 0 69 69 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 219428 11 55340074 55340074 125 ALL relapse snv TSGA10IP splice_region R384_E5splice_region NM_152762 10-PARNMF TSGA10IP ACCEPTOR SNP Somatic 3 0.128 SQHIGH 6 14 20 0 44 44 C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 254187 11 65721030 65721030 33 ALL relapse snv BCL9L missense G980C NM_182557 10-PARNMF BCL9L MISSENSE SNP Somatic 17 0.830 SQHIGH 33 36 69 1 65 66 Cosmic_Gene C C A C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 283149 11 118771514 118771514 104 ALL relapse snv DNAH10 silent R3482R NM_207437 10-PARNMF DNAH10 SYNONYMOUS SNP Somatic PFAM:PF12781:AAA_9 17 0.830 SQHIGH 31 31 62 0 73 73 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 196385 12 124401081 124401081 128 ALL relapse snv SYNDIG1L silent T145T NM_001105579 10-PARNMF SYNDIG1L SYNONYMOUS SNP Somatic 5 0.155 SQHIGH 26 45 71 1 61 62 C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 646658 14 74874675 74874675 70 ALL relapse snv CHRM5 missense A198P NM_012125 10-PARNMF CHRM5 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -5 0.062 SQHIGH 7 65 72 0 72 72 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 1133 15 34355510 34355510 22 ALL relapse snv MYO5A missense E1098K NM_000259 10-PARNMF MYO5A MISSENSE SNP Somatic 11 0.335 SQHIGH 14 19 33 0 28 28 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 4644 15 52656768 52656768 44 ALL relapse snv ZNF598 missense A450S NM_178167 10-PARNMF ZNF598 MISSENSE SNP Somatic 1 0.105 SQHIGH 4 22 26 1 53 54 Cosmic_Gene C C A C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 90850 16 2050202 2050202 14 ALL relapse snv C16orf71 missense S259L NM_139170 10-PARNMF C16orf71 MISSENSE SNP dbsnp.134:rs144741586 Somatic 6 0.181 SQHIGH 21 37 58 0 51 51 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 146562 16 4790653 4790653 67 ALL relapse snv ABCC11 splice_region I1298_E29splice_region NM_032583 10-PARNMF ABCC11 ACCEPTOR SNP Somatic 12 0.388 SQHIGH 30 40 70 0 80 80 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 85320 16 48201577 48201577 118 ALL relapse snv ZFP90 splice D86_E4splice NM_133458 10-PARNMF ZFP90 ACCEPTOR SNP Somatic 13 0.447 SQHIGH 17 23 40 0 60 60 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 146198 16 68596944 68596944 79 ALL relapse snv KDM6B silent L1133L NM_001080424 10-PARNMF KDM6B SYNONYMOUS SNP Somatic 14 0.526 SQHIGH 16 15 31 0 32 32 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 23135 17 7753005 7753005 61 ALL relapse snv RAB34 missense A39T NM_031934 10-PARNMF SNORD42B|RPL23A|RAB34 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE,UTR SNP Somatic 10 0.293 SQHIGH 11 24 35 1 32 33 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 26808|6147|83871 17 27043952 27043952 27 ALL relapse snv PTRH2 missense H88Y NM_016077 10-PARNMF PTRH2 MISSENSE SNP Somatic PFAM:PF01981:PTH2 -1 0.087 SQHIGH 23 20 43 0 47 47 G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 51651 17 57775078 57775078 92 ALL relapse snv FOXK2 missense I447M NM_004514 10-PARNMF FOXK2 MISSENSE SNP Somatic 0 0.096 SQHIGH 5 11 16 0 24 24 C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 3607 17 80543841 80543841 22 ALL relapse snv CCDC68 missense A28T NM_025214 10-PARNMF CCDC68 MISSENSE SNP Somatic 13 0.447 SQHIGH 18 29 47 0 44 44 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 80323 18 52609941 52609941 60 ALL relapse snv MKNK2 missense E398K NM_199054 10-PARNMF MKNK2 INTRON,MISSENSE SNP Somatic 7 0.204 SQHIGH 26 25 51 0 52 52 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 2872 19 2039818 2039818 98 ALL relapse snv UBXN6 missense E298Q NM_025241 10-PARNMF UBXN6 MISSENSE SNP Somatic 15 0.620 SQHIGH 30 15 45 0 31 31 C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 80700 19 4446525 4446525 96 ALL relapse snv LOC100128568 EXON E6_exon NM_000635 10-PARNMF RFX2 INTRON SNP Somatic 20 1.000 SQHIGH 23 16 39 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 5990 19 6020110 6020110 97 ALL relapse snv SMARCA4 missense A400V NM_001128849 10-PARNMF SMARCA4 MISSENSE SNP Somatic -4 0.067 SQHIGH 5 28 33 0 29 29 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 6597 19 11100073 11100073 14 ALL relapse snv SMARCA4 missense T401I NM_001128849 10-PARNMF SMARCA4 MISSENSE SNP Somatic -4 0.067 SQHIGH 5 27 32 0 27 27 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 6597 19 11100076 11100076 14 ALL relapse snv DHPS missense K358N NM_001930 10-PARNMF DHPS MISSENSE,UTR SNP Somatic 15 0.620 SQHIGH 23 24 47 0 68 68 Cosmic_Gene C C A C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 1725 19 12786688 12786688 108 ALL relapse snv C19orf44 splice V254_E3splice NM_032207 10-PARNMF C19orf44 ACCEPTOR SNP Somatic 5 0.155 SQHIGH 28 44 72 1 52 53 C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 84167 19 16613873 16613873 67 ALL relapse snv WTIP missense E214K NM_001080436 10-PARNMF WTIP MISSENSE SNP Somatic 7 0.204 SQHIGH 5 10 15 0 31 31 G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 126374 19 34973519 34973519 27 ALL relapse snv MIA missense A56V NM_006533 10-PARNMF MIA-RAB4B|MIA|RAB4B|RAB4B-EGLN2 UTR|MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 4 0.141 SQHIGH 29 24 53 1 44 45 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 100529262|8190|53916|100529264 19 41281696 41281696 86 ALL relapse snv IGSF23 missense I188R NM_001205280 10-PARNMF IGSF23 MISSENSE SNP Somatic 6 0.181 SQHIGH 20 37 57 0 53 53 T T G T T TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 147710 19 45138718 45138718 66 ALL relapse snv NUCB1 missense E417K NM_006184 10-PARNMF NUCB1 MISSENSE SNP Somatic 6 0.181 SQHIGH 9 13 22 0 23 23 G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 4924 19 49425159 49425159 33 ALL relapse snv GINS1 silent I10I NM_021067 10-PARNMF GINS1 SYNONYMOUS SNP Somatic PFAM:PF05916:Sld5 13 0.447 SQHIGH 26 31 57 0 46 46 Cosmic_Gene C C A C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 9837 20 25388486 25388486 81 ALL relapse snv PTPRT missense E602K NM_133170 10-PARNMF PTPRT MISSENSE SNP Somatic 14 0.526 SQHIGH 20 28 48 0 63 63 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 11122 20 40979329 40979329 85 ALL relapse snv PIGP missense L43V NM_153681 10-PARNMF PIGP|TTC3 MISSENSE,UTR|TSS-UPSTREAM SNP Somatic PFAM:PF08510:PIG-P 1 0.105 SQHIGH 29 67 96 0 74 74 Cosmic_Gene G G C G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 51227|7267 21 38444761 38444761 81 ALL relapse snv MRPL40 missense R14S NM_003776 10-PARNMF HIRA|MRPL40 TSS-UPSTREAM|MISSENSE SNP Somatic 16 0.699 SQHIGH 11 17 28 0 23 23 Cosmic_Gene C C A C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 7290|64976 22 19420117 19420117 33 ALL relapse snv FAM9A missense E83Q NM_001171186 10-PARNMF FAM9A MISSENSE SNP Somatic 13 0.447 SQHIGH 19 30 49 0 54 54 C C G C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 171482 X 8766494 8766494 71 ALL relapse snv MED12 missense R621Q NM_005120 10-PARNMF MED12 MISSENSE SNP Somatic PFAM:PF12145:Med12-LCEWAV 9 0.259 SQHIGH 28 28 56 0 74 74 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 9968 X 70344126 70344126 125 ALL relapse snv GUCY2F missense S251L NM_001522 10-PARNMF GUCY2F MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor 17 0.830 SQHIGH 13 26 39 1 58 59 Cosmic_Gene G G A G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 2986 X 108708651 108708651 48 ALL relapse snv HS6ST2 silent L520L NM_001077188 10-PARNMF HS6ST2 SYNONYMOUS SNP Somatic PFAM:PF03567:Sulfotransfer_2 12 0.388 SQHIGH 27 31 58 0 81 81 C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 90161 X 131762629 131762629 122 ALL relapse snv AFF2 silent D41D NM_002025 10-PARNMF AFF2 SYNONYMOUS SNP Somatic PFAM:PF05110:AF-4 12 0.388 SQHIGH 18 17 35 1 47 48 Cosmic_Gene C C T C C TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 2334 X 147733595 147733595 71 ALL relapse complex PTH2 frameshift V96_L97fs NM_178449 10-PARNMF PTH2|LOC100507003 FRAMESHIFT|TSS-UPSTREAM Sub Somatic -1 0.493 SQHIGH 20 36 56 0 49 49 AACAC AACAC ATG AACAC AACAC TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 113091|100507003 19 49925738 49925742 63 ALL diagnosis snv PRDM16 missense V662M NM_022114 10-PARNSH PRDM16 MISSENSE SNP Somatic 11 0.319 SQHIGH 14 24 38 0 34 34 Cosmic_Gene G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 63976 1 3328745 3328745 45 ALL diagnosis snv FBLIM1 silent R313R NM_017556 10-PARNSH FBLIM1 SYNONYMOUS SNP Somatic 12 0.367 SQHIGH 43 38 81 0 79 79 Cosmic_Gene G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 54751 1 16103713 16103713 160 ALL diagnosis snv CSMD2-AS1 EXON E5_exon NM_052896 10-PARNSH LOC402779|CSMD2 UTR|INTRON SNP dbsnp.132:rs113870219 Somatic 12 0.367 SQHIGH 14 23 37 0 47 47 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 402779|114784 1 34350825 34350825 57 ALL diagnosis snv SPAG17 missense R1881C NM_206996 10-PARNSH SPAG17 MISSENSE SNP Somatic 17 0.851 SQHIGH 23 26 49 1 47 48 Cosmic_Gene G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 200162 1 118530485 118530485 71 ALL diagnosis snv DNAH6 missense R2336S NM_001370 10-PARNSH DNAH6 MISSENSE SNP Somatic 17 0.851 SQHIGH 9 12 21 0 26 26 Cosmic_Gene C C A C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 1768 2 84912539 84912539 37 ALL diagnosis snv ZEB2 missense H1038R NM_014795 10-PARNSH ZEB2 MISSENSE SNP Somatic 9 0.247 SQHIGH 20 31 51 0 59 59 Cosmic_Gene T T C T T TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 9839 2 145147550 145147550 78 ALL diagnosis snv WNT6 missense R184G NM_006522 10-PARNSH WNT6 MISSENSE SNP Somatic PFAM:PF00110:wnt 1 0.101 SQHIGH 8 34 42 2 47 49 Cosmic_Gene A A G A A TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 7475 2 219736455 219736455 16 ALL diagnosis snv AGAP1 missense A772V NM_001037131 10-PARNSH AGAP1 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 3 0.121 SQHIGH 23 28 51 0 43 43 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 116987 2 237029036 237029036 74 ALL diagnosis snv PRICKLE2 missense R606C NM_198859 10-PARNSH LOC100652759|PRICKLE2 UTR|MISSENSE SNP Somatic 7 0.193 SQHIGH 20 21 41 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 100652759|166336 3 64085446 64085446 77 ALL diagnosis snv VPS8 missense S950C NM_001009921 10-PARNSH VPS8 MISSENSE SNP Somatic -9 0.043 SQHIGH 4 32 36 0 63 63 Cosmic_Gene A A T A A TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 23355 3 184648306 184648306 18 ALL diagnosis snv POLR2B silent R1091R NM_000938 10-PARNSH POLR2B SYNONYMOUS SNP Somatic 14 0.502 SQHIGH 29 32 61 0 58 58 Cosmic_Gene C C A C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 5431 4 57896401 57896401 103 ALL diagnosis snv ADH1B missense V53M NM_000668 10-PARNSH ADH1B MISSENSE SNP Somatic 9 0.247 SQHIGH 23 29 53 0 65 65 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 125 4 100239305 100239305 96 ALL diagnosis snv PRRT1 silent A297A NM_030651 10-PARNSH PPT2|PPT2-EGFL8|PRRT1 TSS-UPSTREAM|TSS-UPSTREAM|SYNONYMOUS SNP Somatic 14 0.502 SQHIGH 20 24 44 0 49 49 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 9374|100532746|80863 6 32117029 32117029 78 ALL diagnosis snv ARID3C missense A245T NM_001017363 10-PARNSH DCTN3|ARID3C TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.051 SQHIGH 6 7 13 0 12 12 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 11258|138715 9 34623554 34623554 20 ALL diagnosis snv DFNB31 missense V569I NM_015404 10-PARNSH DFNB31 MISSENSE SNP Somatic 17 0.851 SQHIGH 34 32 66 0 74 74 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 25861 9 117169166 117169166 138 ALL diagnosis snv OR4C15 nonsense R313* NM_001001920 10-PARNSH OR4C15 NONSENSE SNP Somatic 6 0.171 SQHIGH 26 41 67 0 53 53 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 81309 11 55322719 55322719 78 ALL diagnosis snv OR4D9 missense V112I NM_001004711 10-PARNSH OR4D9 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.171 SQHIGH 35 41 76 1 92 93 G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 390199 11 59282719 59282719 132 ALL diagnosis snv LRRC16B missense A718T NM_138360 10-PARNSH LRRC16B MISSENSE SNP Somatic 4 0.132 SQHIGH 28 39 67 1 74 75 Cosmic_Gene G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 90668 14 24529927 24529927 95 ALL diagnosis snv MAPKBP1 missense R912L NM_014994 10-PARNSH MAPKBP1 MISSENSE SNP Somatic -32 0.003 7 65 72 1 88 89 Cosmic_Gene G G T G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 23005 15 42113798 42113798 18 ALL diagnosis snv GPR179 silent A383A NM_001004334 10-PARNSH GPR179 SYNONYMOUS SNP Somatic 3 0.121 SQHIGH 5 12 17 0 24 24 Cosmic_Gene A A C A A TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 440435 17 36492939 36492939 21 ALL diagnosis snv NAGS silent T181T NM_153006 10-PARNSH PYY|NAGS TSS-UPSTREAM|SYNONYMOUS SNP Somatic 18 0.888 SQHIGH 16 19 35 0 54 54 G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 5697|162417 17 42083121 42083121 76 ALL diagnosis snv CCBE1 missense G271S NM_133459 10-PARNSH CCBE1 MISSENSE SNP Somatic 12 0.367 SQHIGH 17 28 45 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 147372 18 57107013 57107013 62 ALL diagnosis snv SHD silent P109P NM_020209 10-PARNSH SHD SYNONYMOUS SNP Somatic 11 0.319 SQHIGH 15 12 27 0 36 36 C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 56961 19 4282896 4282896 68 ALL diagnosis snv ZNF536 missense E201K NM_014717 10-PARNSH ZNF536 MISSENSE SNP Somatic 4 0.132 SQHIGH 10 12 22 0 13 13 Cosmic_Gene G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 9745 19 30935070 30935070 25 ALL diagnosis snv CHST8 missense R158W NM_001127896 10-PARNSH CHST8 MISSENSE SNP Somatic 5 0.147 SQHIGH 15 15 30 1 31 32 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 64377 19 34263165 34263165 47 ALL diagnosis snv LRFN3 silent H436H NM_024509 10-PARNSH LRFN3 SYNONYMOUS SNP Somatic PFAM:PF00041:fn3 9 0.247 SQHIGH 16 13 29 0 26 26 C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 79414 19 36431635 36431635 56 ALL diagnosis snv SIGLEC5 missense D480N NM_003830 10-PARNSH SIGLEC5 MISSENSE SNP Somatic 5 0.147 SQHIGH 18 35 53 0 81 81 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 8778 19 52129311 52129311 82 ALL diagnosis snv PCSK2 missense A515T NM_002594 10-PARNSH PCSK2 MISSENSE SNP Somatic PFAM:PF01483:P_proprotein 17 0.851 SQHIGH 31 34 65 0 75 75 Cosmic_Gene G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 5126 20 17462341 17462341 125 ALL diagnosis snv INPP5J silent T326T NM_001284285 10-PARNSH INPP5J INTRON SNP Somatic 17 0.851 SQHIGH 13 24 37 0 39 39 Cosmic_Gene C C G C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 27124 22 31521703 31521703 46 ALL diagnosis snv NHS missense A88V NM_198270 10-PARNSH NHS MISSENSE SNP Somatic 14 0.502 SQHIGH 10 23 33 0 40 40 Cosmic_Gene C C T C C TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 4810 X 17394143 17394143 38 ALL diagnosis snv TCEAL4 missense G10R NM_024863 10-PARNSH TCEAL4 MISSENSE SNP Somatic 9 0.247 SQHIGH 40 54 94 0 75 75 G G C G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 79921 X 102841631 102841631 123 ALL diagnosis snv GRIA3 silent L791L NM_000828 10-PARNSH GRIA3 SYNONYMOUS,INTRON SNP dbsnp.86:rs1052543 Somatic PFAM:PF00060:Lig_chan 10 0.280 SQHIGH 23 37 60 0 77 77 Cosmic_Gene G G A G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 2892 X 122599573 122599573 95 ALL diagnosis mnv LCE2A missense G97_C98>GG NM_178428 10-PARNSH LCE2A MISSENSE Sub Somatic -1 0.495 SQHIGH 7 15 22 1 31 32 CT CT GG CT CT TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 353139 1 152671668 152671669 23 ALL diagnosis complex UBA2 frameshift K271_L272fs NM_005499 10-PARNSH UBA2 FRAMESHIFT Sub Somatic PFAM:PF00670:AdoHcyase_NAD -7 0.260 SQHIGH 26 26 52 0 66 66 Cosmic_Gene AAACT AAACT AGGC AAACT AAACT TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 10054 19 34941209 34941213 113 ALL relapse snv FBLIM1 silent R313R NM_017556 10-PARNSH FBLIM1 SYNONYMOUS SNP Somatic -6 0.056 SQHIGH 11 54 65 0 79 79 Cosmic_Gene G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 54751 1 16103713 16103713 40 ALL relapse snv CSMD2-AS1 EXON E5_exon NM_052896 10-PARNSH LOC402779|CSMD2 UTR|INTRON SNP dbsnp.132:rs113870219 Somatic 7 0.195 SQHIGH 10 32 42 0 47 47 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 402779|114784 1 34350825 34350825 35 ALL relapse snv LDLRAD1 missense A55T NM_001010978 10-PARNSH LDLRAD1 MISSENSE SNP Somatic 0 0.092 SQHIGH 9 34 43 0 67 67 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 388633 1 54479948 54479948 39 ALL relapse snv SPAG17 missense R1881C NM_206996 10-PARNSH SPAG17 MISSENSE SNP Somatic 4 0.134 SQHIGH 14 44 58 1 47 48 Cosmic_Gene G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 200162 1 118530485 118530485 31 ALL relapse snv ZEB2 missense H1038R NM_014795 10-PARNSH ZEB2 MISSENSE SNP Somatic -10 0.040 SQHIGH 8 43 51 0 59 59 Cosmic_Gene T T C T T TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 9839 2 145147550 145147550 28 ALL relapse snv AGAP1 missense A772V NM_001037131 10-PARNSH AGAP1 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 0 0.092 SQHIGH 10 35 45 0 43 43 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 116987 2 237029036 237029036 32 ALL relapse snv PRICKLE2 missense R606C NM_198859 10-PARNSH LOC100652759|PRICKLE2 UTR|MISSENSE SNP Somatic 0 0.092 SQHIGH 9 39 48 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 100652759|166336 3 64085446 64085446 27 ALL relapse snv NXPE3 missense G390D NM_001134456 10-PARNSH NXPE3 MISSENSE SNP Somatic 2 0.111 SQHIGH 8 35 43 0 39 39 Cosmic_Gene G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 91775 3 101540287 101540287 24 ALL relapse snv POLR2B silent R1091R NM_000938 10-PARNSH POLR2B SYNONYMOUS SNP Somatic 1 0.102 SQHIGH 10 48 58 0 58 58 Cosmic_Gene C C A C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 5431 4 57896401 57896401 32 ALL relapse snv ADH1B missense V53M NM_000668 10-PARNSH ADH1B MISSENSE SNP Somatic 11 0.322 SQHIGH 13 36 49 0 65 65 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 125 4 100239305 100239305 52 ALL relapse snv PRRT1 silent A297A NM_030651 10-PARNSH PPT2|PPT2-EGFL8|PRRT1 TSS-UPSTREAM|TSS-UPSTREAM|SYNONYMOUS SNP Somatic 1 0.102 SQHIGH 7 32 39 0 49 49 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 9374|100532746|80863 6 32117029 32117029 26 ALL relapse snv FOXP4 silent S414S NM_001012426 10-PARNSH FOXP4 SYNONYMOUS SNP dbsnp.134:rs141445753 Somatic -5 0.060 SQHIGH 7 24 31 0 32 32 Cosmic_Gene G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 116113 6 41557793 41557793 23 ALL relapse snv DFNB31 missense V569I NM_015404 10-PARNSH DFNB31 MISSENSE SNP Somatic -3 0.070 SQHIGH 10 53 63 0 74 74 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 25861 9 117169166 117169166 36 ALL relapse snv OR4C15 nonsense R313* NM_001001920 10-PARNSH OR4C15 NONSENSE SNP Somatic 5 0.149 SQHIGH 15 50 65 0 53 53 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 81309 11 55322719 55322719 42 ALL relapse snv OR4D9 missense V112I NM_001004711 10-PARNSH OR4D9 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -2 0.076 SQHIGH 12 41 53 1 92 93 G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 390199 11 59282719 59282719 47 ALL relapse snv LRRC16B missense A718T NM_138360 10-PARNSH LRRC16B MISSENSE SNP Somatic -8 0.047 SQHIGH 8 42 50 1 74 75 Cosmic_Gene G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 90668 14 24529927 24529927 26 ALL relapse snv TCF25 splice_region I65_E2splice_region NM_014972 10-PARNSH TCF25 ACCEPTOR SNP Somatic 7 0.195 SQHIGH 15 50 65 0 67 67 G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 22980 16 89949749 89949749 50 ALL relapse snv NAGS silent T181T NM_153006 10-PARNSH PYY|NAGS TSS-UPSTREAM|SYNONYMOUS SNP Somatic -10 0.040 SQHIGH 7 34 41 0 54 54 G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 5697|162417 17 42083121 42083121 27 ALL relapse snv LAMA3 missense G2717E NM_198129 10-PARNSH LAMA3 MISSENSE SNP Somatic -10 0.040 SQHIGH 5 31 36 0 43 43 Cosmic_Gene G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 3909 18 21501522 21501522 18 ALL relapse snv CCBE1 missense G271S NM_133459 10-PARNSH CCBE1 MISSENSE SNP Somatic 0 0.092 SQHIGH 6 28 34 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 147372 18 57107013 57107013 24 ALL relapse snv SHD silent P109P NM_020209 10-PARNSH SHD SYNONYMOUS SNP Somatic -2 0.076 SQHIGH 4 13 17 0 36 36 C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 56961 19 4282896 4282896 21 ALL relapse snv PRAM1 silent G524G NM_032152 10-PARNSH PRAM1 SYNONYMOUS SNP Somatic 2 0.111 SQHIGH 9 33 42 0 53 53 G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 84106 19 8562652 8562652 34 ALL relapse snv RNASEH2A missense R280L NM_006397 10-PARNSH RNASEH2A MISSENSE SNP Somatic 3 0.122 SQHIGH 14 57 71 0 79 79 Cosmic_Gene G G T G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 10535 19 12924219 12924219 49 ALL relapse snv LRFN3 silent H436H NM_024509 10-PARNSH LRFN3 SYNONYMOUS SNP Somatic PFAM:PF00041:fn3 -6 0.056 SQHIGH 4 19 23 0 26 26 C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 79414 19 36431635 36431635 14 ALL relapse snv SIGLEC5 missense D480N NM_003830 10-PARNSH SIGLEC5 MISSENSE SNP Somatic 6 0.173 SQHIGH 16 57 73 0 81 81 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 8778 19 52129311 52129311 56 ALL relapse snv GGT7 silent G368G NM_178026 10-PARNSH GGT7 SYNONYMOUS SNP Somatic PFAM:PF01019:G_glu_transpept -9 0.044 SQHIGH 6 31 37 0 52 52 Cosmic_Gene G G T G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 2686 20 33442725 33442725 24 ALL relapse snv NHS missense A88V NM_198270 10-PARNSH NHS MISSENSE SNP Somatic -4 0.065 SQHIGH 6 16 22 0 40 40 Cosmic_Gene C C T C C TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 4810 X 17394143 17394143 29 ALL relapse snv TCEAL4 missense G10R NM_024863 10-PARNSH TCEAL4 MISSENSE SNP Somatic -4 0.065 SQHIGH 13 68 81 0 75 75 G G C G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 79921 X 102841631 102841631 39 ALL relapse snv GRIA3 silent L791L NM_000828 10-PARNSH GRIA3 SYNONYMOUS,INTRON SNP dbsnp.86:rs1052543 Somatic PFAM:PF00060:Lig_chan -7 0.052 SQHIGH 8 61 69 0 77 77 Cosmic_Gene G G A G G TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 2892 X 122599573 122599573 27 ALL relapse complex UBA2 frameshift K271_L272fs NM_005499 10-PARNSH UBA2 FRAMESHIFT Sub Somatic PFAM:PF00670:AdoHcyase_NAD -8 0.241 SQHIGH 11 46 57 0 66 66 Cosmic_Gene AAACT AAACT AGGC AAACT AAACT TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 10054 19 34941209 34941213 39 ALL diagnosis snv PRPF38B missense S473I NM_018061 10-PARPCA PRPF38B MISSENSE,UTR SNP Somatic -3 0.098 SQHIGH 6 58 64 1 79 80 G G T G G TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 55119 1 109242419 109242419 15 ALL diagnosis snv MLF1 nonsense R27* NM_022443 10-PARPCA MLF1 NONSENSE SNP Somatic PFAM:PF10248:Mlf1IP 0 0.130 SQHIGH 5 13 18 0 12 12 C C T C C TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 4291 3 158310254 158310254 12 ALL diagnosis snv PI4K2B silent R474R NM_018323 10-PARPCA PI4K2B SYNONYMOUS SNP Somatic 13 0.495 SQHIGH 10 10 21 0 20 20 Cosmic_Gene G G A G G TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 55300 4 25278785 25278785 37 ALL diagnosis snv TRPC7 missense A349T NM_020389 10-PARPCA TRPC7 INTRON,MISSENSE SNP Somatic 14 0.568 SQHIGH 13 13 26 0 23 23 C C T C C TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 57113 5 135610444 135610444 44 ALL diagnosis snv KRAS missense G13D NM_033360 10-PARPCA KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic 3 0.169 SQHIGH 8 20 28 0 30 30 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 3845 12 25398281 25398281 28 ALL diagnosis snv NALCN missense R1582C NM_052867 10-PARPCA NALCN MISSENSE SNP Somatic 13 0.495 SQHIGH 11 25 36 1 43 44 Cosmic_Gene G G A G G TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 259232 13 101714331 101714331 33 ALL diagnosis snv MYH6 missense L1542M NM_002471 10-PARPCA MYH6 MISSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 15 0.647 SQHIGH 12 22 34 0 38 38 Cosmic_Gene G G T G G TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 4624 14 23856764 23856764 44 ALL diagnosis snv PIWIL3 silent N816N NM_001008496 10-PARPCA PIWIL3 SYNONYMOUS SNP dbsnp.129:rs61740100 Somatic PFAM:PF02171:Piwi 3 0.169 SQHIGH 9 19 28 0 33 33 Cosmic_Gene G G A G G TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 440822 22 25115799 25115799 34 ALL diagnosis snv PDHA1 missense G122S NM_000284 10-PARPCA PDHA1 MISSENSE SNP Somatic 3 0.169 SQHIGH 8 21 29 0 20 20 Cosmic_Gene G G A G G TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 5160 X 19369471 19369471 20 ALL diagnosis complex CAD frameshift K1618fs NM_004341 10-PARPCA CAD FRAMESHIFT Sub Somatic -9 0.284 SQHIGH 8 50 58 0 46 46 Cosmic_Gene AA AA ACAC AA AA TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 790 2 27461047 27461048 21 ALL relapse snv INHBB missense V98G NM_002193 10-PARPNM INHBB MISSENSE SNP Somatic PFAM:PF00688:TGFb_propeptide -7 0.071 SQHIGH 4 4 8 1 32 33 Cosmic_Gene T T G T T TARGET-10-PARPNM-04A-01D TARGET-10-PARPNM-10A-01D 3625 2 121104057 121104057 25 ALL relapse snv SMG6 missense T1390M NM_017575 10-PARPNM SMG6 MISSENSE SNP Somatic 6 0.302 SQHIGH 7 26 33 1 88 89 Cosmic_Gene G G A G G TARGET-10-PARPNM-04A-01D TARGET-10-PARPNM-10A-01D 23293 17 1964877 1964877 34 ALL relapse snv LOC100128568 EXON E6_exon NM_000635 10-PARPNM RFX2 INTRON SNP Somatic 4 0.237 SQHIGH 10 26 36 0 42 42 Cosmic_Gene T T C T T TARGET-10-PARPNM-04A-01D TARGET-10-PARPNM-10A-01D 5990 19 6020195 6020195 37 ALL relapse snv NINL silent P706P NM_025176 10-PARPNM NINL SYNONYMOUS SNP Somatic -2 0.122 SQHIGH 5 9 14 1 22 23 Cosmic_Gene A A G A A TARGET-10-PARPNM-04A-01D TARGET-10-PARPNM-10A-01D 22981 20 25459642 25459642 17 ALL relapse snv SALL4 missense R4H NM_020436 10-PARPNM SALL4 MISSENSE SNP Somatic -27 0.007 3 17 20 0 42 42 Cosmic_Gene C C T C C TARGET-10-PARPNM-04A-01D TARGET-10-PARPNM-10A-01D 57167 20 50418937 50418937 15 ALL diagnosis snv NRAS missense G12A NM_002524 10-PARPNM NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -2 0.137 SQHIGH 7 15 22 0 36 36 COSMIC:mut:565 Cosmic_Gene C C G C C TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 4893 1 115258747 115258747 32 ALL diagnosis snv LOXL3 missense R517H NM_032603 10-PARPNM LOXL3 MISSENSE SNP Somatic PFAM:PF00530:SRCR 9 0.467 SQHIGH 16 18 34 0 59 59 C C T C C TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 84695 2 74762448 74762448 82 ALL diagnosis snv ILDR1 splice_region R127_E3splice_region NM_175924 10-PARPNM ILDR1 INTRON SNP Somatic -6 0.091 SQHIGH 6 15 21 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 286676 3 121724083 121724083 25 ALL diagnosis snv FAM131A splice G170_E5splice NM_144635 10-PARPNM FAM131A ACCEPTOR SNP Somatic -6 0.091 SQHIGH 10 41 51 2 82 84 Cosmic_Gene C C T C C TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 131408 3 184060529 184060529 30 ALL diagnosis snv ARHGEF28 nonsense R42* NM_001080479 10-PARPNM ARHGEF28 NONSENSE SNP Somatic -7 0.084 SQHIGH 5 34 39 1 63 64 C C T C C TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 64283 5 73045752 73045752 16 ALL diagnosis snv DNAH8 silent R1751R NM_001206927 10-PARPNM DNAH8 SYNONYMOUS SNP Somatic PFAM:PF08393:DHC_N2 -33 0.005 3 30 33 0 58 58 Cosmic_Gene A A C A A TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 1769 6 38818080 38818080 13 ALL diagnosis snv ARID1B missense S2030R NM_017519 10-PARPNM ARID1B MISSENSE SNP Somatic PFAM:PF12031:DUF3518 -6 0.091 SQHIGH 7 45 52 0 75 75 Cosmic_Gene A A C A A TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 57492 6 157528402 157528402 28 ALL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 10-PARPNM KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic -8 0.077 SQHIGH 8 40 48 0 46 46 Cosmic_Gene T T G T T TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 3784|10984 11 2663504 2663504 25 ALL diagnosis snv SLC22A24 nonsense R332* NM_001136506 10-PARPNM SLC22A24 NONSENSE SNP Somatic 1 0.187 SQHIGH 6 20 26 0 32 32 G G A G G TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 283238 11 62863539 62863539 22 ALL diagnosis snv PTPN11 missense E76A NM_002834 10-PARPNM PTPN11 MISSENSE SNP dbsnp.133:rs121918465 Somatic -30 0.009 4 35 39 0 39 39 COSMIC:mut:13026 Cosmic_Gene A A C A A TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 5781 12 112888211 112888211 12 ALL diagnosis snv MYH7 missense K1587R NM_000257 10-PARPNM MYH7 MISSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 -6 0.091 SQHIGH 9 34 43 1 53 54 Cosmic_Gene T T C T T TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 4625 14 23885406 23885406 26 ALL diagnosis snv SMG6 missense T1390M NM_017575 10-PARPNM SMG6 MISSENSE SNP Somatic 3 0.231 SQHIGH 20 50 70 1 88 89 Cosmic_Gene G G A G G TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 23293 17 1964877 1964877 68 ALL diagnosis snv TIMP2 missense A207T NM_003255 10-PARPNM TIMP2 MISSENSE SNP Somatic -34 0.004 3 18 21 0 39 39 Cosmic_Gene C C T C C TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 7077 17 76851793 76851793 14 ALL diagnosis snv LOC100128568 EXON E6_exon NM_000635 10-PARPNM RFX2 INTRON SNP Somatic 4 0.258 SQHIGH 16 27 43 0 42 42 Cosmic_Gene T T C T T TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 5990 19 6020195 6020195 55 ALL diagnosis snv MUC16 silent L12854L NM_024690 10-PARPNM MUC16 SYNONYMOUS SNP Somatic 2 0.208 SQHIGH 3 12 15 0 24 24 Cosmic_Gene G G A G G TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 94025 19 9012884 9012884 13 ALL diagnosis snv PI4KA silent L1481L NM_058004 10-PARPNM PI4KA SYNONYMOUS SNP Somatic 17 0.921 SQHIGH 26 18 44 1 61 62 Cosmic_Gene C C T C C TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 5297 22 21083965 21083965 113 ALL diagnosis snv EVC missense E585G NM_153717 10-PARPRW EVC MISSENSE SNP Somatic 2 0.163 SQHIGH 10 48 58 0 26 26 Cosmic_Gene A A G A A TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 2121 4 5785469 5785469 17 ALL diagnosis snv ZMIZ2 silent L89L NM_031449 10-PARPRW ZMIZ2 SYNONYMOUS SNP Somatic 16 0.758 SQHIGH 9 13 22 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 83637 7 44796647 44796647 38 ALL diagnosis snv SPDYE3 missense Q507R NM_001004351 10-PARPRW SPDYE3 MISSENSE SNP Somatic PFAM:PF11357:Spy1 -9 0.060 SQHIGH 16 55 71 2 64 66 A A G A A TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 441272 7 99917361 99917361 33 ALL diagnosis snv SORCS3 silent A105A NM_014978 10-PARPRW SORCS3 SYNONYMOUS SNP Somatic -6 0.078 SQHIGH 6 18 24 0 35 35 Cosmic_Gene C C A C C TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 22986 10 106401400 106401400 25 ALL diagnosis snv FAM196A missense P310L NM_001039762 10-PARPRW DOCK1|FAM196A INTRON|MISSENSE SNP Somatic 6 0.249 SQHIGH 20 40 60 0 85 85 Cosmic_Gene G G A G G TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 1793|642938 10 128973731 128973731 86 ALL diagnosis snv KRTAP5-5 silent G209G NM_001001480 10-PARPRW KRTAP5-5 SYNONYMOUS SNP Somatic -7 0.072 SQHIGH 4 11 15 0 25 25 Cosmic_Gene A A G A A TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 439915 11 1651697 1651697 18 ALL diagnosis snv FAT3 silent P3819P NM_001008781 10-PARPRW FAT3 SYNONYMOUS SNP Somatic -16 0.031 3 25 28 0 26 26 Cosmic_Gene G G A G G TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 120114 11 92590471 92590471 9 ALL diagnosis snv RXFP2 missense N559T NM_130806 10-PARPRW RXFP2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 10 0.375 SQHIGH 11 26 37 0 27 27 A A C A A TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 122042 13 32367115 32367115 29 ALL diagnosis snv SUPT6H missense E171K NM_003170 10-PARPRW SUPT6H MISSENSE SNP Somatic 1 0.147 SQHIGH 18 27 45 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 6830 17 27002153 27002153 71 ALL diagnosis snv KRTAP4-4 missense H159Q NM_032524 10-PARPRW KRTAP4-4 MISSENSE SNP Somatic 0 0.134 SQHIGH 4 10 14 0 29 29 A A C A A TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 84616 17 39316467 39316467 21 ALL diagnosis snv KRTAP4-4 silent R157R NM_032524 10-PARPRW KRTAP4-4 SYNONYMOUS SNP Somatic -2 0.112 SQHIGH 4 10 14 0 32 32 C C T C C TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 84616 17 39316473 39316473 22 ALL diagnosis snv KRTAP4-4 missense Y156C NM_032524 10-PARPRW KRTAP4-4 MISSENSE SNP Somatic -4 0.093 SQHIGH 4 8 12 0 31 31 T T C T T TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 84616 17 39316477 39316477 24 ALL diagnosis snv GRN silent P323P NM_002087 10-PARPRW GRN SYNONYMOUS SNP Somatic PFAM:PF00396:Granulin 2 0.163 SQHIGH 16 17 33 1 39 40 Cosmic_Gene C C T C C TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 2896 17 42428953 42428953 56 ALL diagnosis snv HLF missense A245S NM_002126 10-PARPRW HLF MISSENSE SNP Somatic PFAM:PF00170:bZIP_1 5 0.218 SQHIGH 18 17 35 1 40 41 Cosmic_Gene G G T G G TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 3131 17 53398085 53398085 63 ALL diagnosis snv TCF3 missense H460Y NM_003200 10-PARPRW TCF3 MISSENSE SNP Somatic 10 0.375 SQHIGH 10 20 30 0 69 69 Cosmic_Gene G G A G G TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 6929 19 1619182 1619182 57 ALL diagnosis snv ZNF709 missense T413I NM_152601 10-PARPRW ZNF709 MISSENSE SNP Somatic -7 0.072 SQHIGH 9 46 55 3 72 75 G G A G G TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 163051 19 12575498 12575498 17 ALL diagnosis snv NOTCH3 missense T1751N NM_000435 10-PARPRW NOTCH3 MISSENSE SNP Somatic 14 0.601 SQHIGH 11 18 29 0 53 53 Cosmic_Gene G G T G G TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 4854 19 15278170 15278170 56 ALL diagnosis snv ZNF257 missense H279Y NM_033468 10-PARPRW ZNF257 MISSENSE SNP Somatic 6 0.249 SQHIGH 19 36 55 0 45 45 C C T C C TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 113835 19 22271387 22271387 57 ALL diagnosis snv ZNF841 silent P484P NM_001136499 10-PARPRW ZNF841 SYNONYMOUS SNP Somatic -7 0.072 SQHIGH 7 36 43 0 48 48 G G A G G TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 284371 19 52569683 52569683 24 ALL diagnosis snv MID1 missense Y216C NM_000381 10-PARPRW MID1 INTRON,MISSENSE SNP Somatic 0 0.134 SQHIGH 10 21 31 0 54 54 Cosmic_Gene T T C T T TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 4281 X 10534941 10534941 48 ALL diagnosis snv SLC6A8 splice_region G533_E12splice_region NM_005629 10-PARPRW SLC6A8 ACCEPTOR SNP Somatic 0 0.134 SQHIGH 9 33 42 0 38 38 Cosmic_Gene C C T C C TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 6535 X 152960169 152960169 27 ALL diagnosis mnv SORBS2 missense P686I NM_001145674 10-PARPRW SORBS2 INTRON,MISSENSE Sub Somatic -3 0.442 SQHIGH 8 31 39 0 65 65 Cosmic_Gene GG GG AT GG GG TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 8470 4 186544226 186544227 36 ALL diagnosis complex FMNL3 frameshift R194fs NM_175736 10-PARPRW FMNL3 INTRON,FRAMESHIFT Sub Somatic PFAM:PF06371:Drf_GBD -30 0.035 3 23 26 0 51 51 Cosmic_Gene GC GC GTG GC GC TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 91010 12 50052248 50052249 14 ALL diagnosis mnv KRTAP4-4 missense C160_G161>CC NM_032524 10-PARPRW KRTAP4-4 MISSENSE Sub Somatic -6 0.337 SQHIGH 4 9 13 0 30 30 CA CA AG CA CA TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 84616 17 39316463 39316464 22 ALL diagnosis snv COL6A5 silent D324D NM_153264 10-PARPZJ COL6A5 SYNONYMOUS,UTR SNP dbsnp.132:rs76775308 Somatic PFAM:PF04811:Sec23_trunk -2 0.103 SQHIGH 6 24 30 0 34 34 C C T C C TARGET-10-PARPZJ-03A-01D TARGET-10-PARPZJ-10A-01D 256076 3 130098565 130098565 21 ALL diagnosis snv SNCG splice E121_E4splice NM_003087 10-PARPZJ SNCG DISRUPT SNP Somatic -5 0.075 SQHIGH 22 90 112 0 69 69 G G T G G TARGET-10-PARPZJ-03A-01D TARGET-10-PARPZJ-10A-01D 6623 10 88722433 88722433 50 ALL diagnosis snv SHISA2 missense S278C NM_001007538 10-PARPZJ SHISA2 MISSENSE SNP Somatic -6 0.069 SQHIGH 8 42 50 0 33 33 Cosmic_Gene G G C G G TARGET-10-PARPZJ-03A-01D TARGET-10-PARPZJ-10A-01D 387914 13 26620706 26620706 19 ALL diagnosis snv PMFBP1 silent V899V NM_031293 10-PARPZJ PMFBP1 SYNONYMOUS SNP Somatic 6 0.314 SQHIGH 18 61 79 0 60 60 Cosmic_Gene G G A G G TARGET-10-PARPZJ-03A-01D TARGET-10-PARPZJ-10A-01D 83449 16 72156884 72156884 48 ALL relapse snv WDR3 missense T753K NM_006784 10-PARPZJ WDR3 MISSENSE SNP Somatic 0 0.137 SQHIGH 6 31 37 1 67 68 Cosmic_Gene C C A C C TARGET-10-PARPZJ-04A-01D TARGET-10-PARPZJ-10A-01D 10885 1 118496154 118496154 21 ALL relapse snv WDR3 silent V754V NM_006784 10-PARPZJ WDR3 SYNONYMOUS SNP Somatic 0 0.137 SQHIGH 5 29 34 1 77 78 Cosmic_Gene G G T G G TARGET-10-PARPZJ-04A-01D TARGET-10-PARPZJ-10A-01D 10885 1 118496158 118496158 20 ALL relapse snv FAM198B missense D194Y NM_001031700 10-PARPZJ FAM198B MISSENSE SNP Somatic -2 0.106 SQHIGH 9 44 53 1 40 41 C C A C C TARGET-10-PARPZJ-04A-01D TARGET-10-PARPZJ-10A-01D 51313 4 159091948 159091948 17 ALL relapse snv SLC26A4 missense A372D NM_000441 10-PARPZJ SLC26A4 MISSENSE SNP Somatic PFAM:PF00916:Sulfate_transp -6 0.072 SQHIGH 9 43 52 0 48 48 Cosmic_Gene C C A C C TARGET-10-PARPZJ-04A-01D TARGET-10-PARPZJ-10A-01D 5172 7 107329611 107329611 27 ALL relapse snv ST7-OT3 EXON E11_exon NM_018412 10-PARPZJ ST7-OT3|ST7 UTR|INTRON SNP Somatic -1 0.121 SQHIGH 8 39 47 0 52 52 Cosmic_Gene G G T G G TARGET-10-PARPZJ-04A-01D TARGET-10-PARPZJ-10A-01D 93655|7982 7 116838526 116838526 27 ALL relapse snv SHISA2 missense S278C NM_001007538 10-PARPZJ SHISA2 MISSENSE SNP Somatic 9 0.429 SQHIGH 8 31 39 0 33 33 Cosmic_Gene G G C G G TARGET-10-PARPZJ-04A-01D TARGET-10-PARPZJ-10A-01D 387914 13 26620706 26620706 23 ALL relapse snv ATP1A3 splice N119_E4splice NM_152296 10-PARPZJ ATP1A3 DISRUPT SNP Somatic -8 0.059 SQHIGH 7 47 54 0 43 43 Cosmic_Gene C C T C C TARGET-10-PARPZJ-04A-01D TARGET-10-PARPZJ-10A-01D 478 19 42492087 42492087 19 ALL relapse snv SIGLEC1 silent D48D NM_023068 10-PARPZJ SIGLEC1 SYNONYMOUS SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set -9 0.054 SQHIGH 5 26 31 0 42 42 Cosmic_Gene G G A G G TARGET-10-PARPZJ-04A-01D TARGET-10-PARPZJ-10A-01D 6614 20 3687259 3687259 19 ALL relapse mnv TPBG missense P115_P116>HA NM_006670 10-PARPZJ TPBG MISSENSE Sub Somatic -23 0.121 3 6 9 0 15 15 Cosmic_Gene CGC CGC ACG CGC CGC TARGET-10-PARPZJ-04A-01D TARGET-10-PARPZJ-10A-01D 7162 6 83075022 83075024 14 ALL diagnosis snv TP73 missense M72L NM_005427 10-PARRAF TP73 MISSTART,MISSENSE SNP Somatic -4 0.060 SQHIGH 5 21 26 0 23 23 Cosmic_Gene A A C A A TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 7161 1 3624140 3624140 15 ALL diagnosis snv NUAK2 missense R569W NM_030952 10-PARRAF NUAK2 MISSENSE SNP Somatic -7 0.048 SQHIGH 6 24 30 0 41 41 Cosmic_Gene G G A G G TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 81788 1 205272760 205272760 24 ALL diagnosis snv CLSTN2-AS1 EXON E8_exon NM_022131 10-PARRAF CLSTN2 INTRON SNP Somatic 16 0.648 SQHIGH 45 1 46 1 55 56 Cosmic_Gene T C C T T TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 64084 3 140226998 140226998 260 ALL diagnosis snv LIFR missense A206D NM_001127671 10-PARRAF LIFR MISSENSE SNP Somatic 15 0.560 SQHIGH 18 15 33 0 30 30 Cosmic_Gene G G T G G TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 3977 5 38512011 38512011 64 ALL diagnosis snv EYS missense P34Q NM_001142800 10-PARRAF EYS MISSENSE SNP Somatic 11 0.292 SQHIGH 21 25 46 0 31 31 Cosmic_Gene G G T G G TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 346007 6 66205203 66205203 58 ALL diagnosis snv COPB1 missense R841H NM_016451 10-PARRAF COPB1 MISSENSE SNP Somatic PFAM:PF07718:Coatamer_beta_C 14 0.464 SQHIGH 8 17 25 0 33 33 Cosmic_Gene C C T C C TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 1315 11 14482766 14482766 32 ALL diagnosis snv CHEK1 missense R372Q NM_001114122 10-PARRAF CHEK1 MISSENSE SNP Somatic 5 0.140 SQHIGH 5 13 18 0 35 35 Cosmic_Gene G G A G G TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 1111 11 125514420 125514420 25 ALL diagnosis snv RND1 splice K106_E3splice NM_014470 10-PARRAF RND1 DISRUPT SNP Somatic 13 0.393 SQHIGH 29 32 61 0 59 59 Cosmic_Gene A A T A A TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 27289 12 49255790 49255790 104 ALL diagnosis snv POSTN missense V703A NM_006475 10-PARRAF POSTN INTRON,MISSENSE SNP Somatic -6 0.052 SQHIGH 6 26 32 0 42 42 Cosmic_Gene A A G A A TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 10631 13 38145577 38145577 23 ALL diagnosis snv USP6 missense N334S NM_004505 10-PARRAF USP6 MISSENSE SNP Somatic -8 0.044 SQHIGH 29 31 60 0 72 72 Cosmic_Gene A A G A A TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 9098 17 5041491 5041491 120 ALL diagnosis snv RABEP1 missense I689M NM_004703 10-PARRAF RABEP1 MISSENSE SNP Somatic PFAM:PF09311:Rab5-bind -3 0.064 SQHIGH 4 13 17 0 18 18 Cosmic_Gene T T G T T TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 9135 17 5280452 5280452 13 ALL diagnosis mnv LAMA3 splice_region G581_E13splice_region NM_198129 10-PARRAF LAMA3 INTRON Sub Somatic -6 0.317 SQHIGH 7 19 26 1 24 25 Cosmic_Gene TC TC AG TC TC TARGET-10-PARRAF-03A-01D TARGET-10-PARRAF-10A-01D 3909 18 21390477 21390478 15 ALL diagnosis snv GNAI3 missense R129W NM_006496 10-PARSGC GNAI3 MISSENSE SNP Somatic 10 0.348 SQHIGH 10 23 33 0 29 29 Cosmic_Gene C C T C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 2773 1 110121907 110121907 31 ALL diagnosis snv S100A7L2 silent A26A NM_001045479 10-PARSGC S100A7L2 SYNONYMOUS SNP Somatic -6 0.075 SQHIGH 7 42 49 1 78 79 Cosmic_Gene C C T C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 645922 1 153410761 153410761 23 ALL diagnosis snv OTOF missense P583L NM_194248 10-PARSGC OTOF TSS-UPSTREAM,MISSENSE SNP Somatic 6 0.230 SQHIGH 12 30 42 0 43 43 Cosmic_Gene G G A G G TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 9381 2 26703709 26703709 41 ALL diagnosis snv FBLN7 nonsense R365* NM_153214 10-PARSGC FBLN7 NONSENSE SNP Somatic -3 0.094 SQHIGH 8 17 25 0 34 34 Cosmic_Gene C C T C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 129804 2 112944856 112944856 33 ALL diagnosis snv EVX2 splice G143_E2splice NM_001080458 10-PARSGC EVX2 MISSENSE SNP Somatic 10 0.348 SQHIGH 13 24 37 0 46 46 Cosmic_Gene C C A C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 344191 2 176947177 176947177 52 ALL diagnosis snv SATB2-AS1 EXON E1_exon NM_015265 10-PARSGC FLJ32063|SATB2 UTR|INTRON,TSS-UPSTREAM SNP Somatic 6 0.230 SQHIGH 15 42 57 0 56 56 Cosmic_Gene G G T G G TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 150538|23314 2 200334700 200334700 49 ALL diagnosis snv UGT1A10 missense M269I NM_019075 10-PARSGC UGT1A10|UGT1A8 MISSENSE|INTRON SNP Somatic PFAM:PF00201:UDPGT 3 0.165 SQHIGH 11 18 29 0 39 39 Cosmic_Gene G G C G G TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 54575|54576 2 234545975 234545975 46 ALL diagnosis snv RASSF1 missense S27W NM_170713 10-PARSGC RASSF1 INTRON,MISSENSE SNP Somatic -7 0.069 SQHIGH 10 14 24 0 32 32 Cosmic_Gene G G C G G TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 11186 3 50374671 50374671 43 ALL diagnosis snv IRX2 silent A106A NM_033267 10-PARSGC IRX2|C5orf38 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 9 0.313 SQHIGH 7 16 23 0 35 35 Cosmic_Gene C C A C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 153572|153571 5 2749833 2749833 31 ALL diagnosis snv SPEF2 silent G562G NM_024867 10-PARSGC SPEF2 SYNONYMOUS SNP Somatic 3 0.165 SQHIGH 8 25 33 0 27 27 Cosmic_Gene A A T A A TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 79925 5 35691300 35691300 23 ALL diagnosis snv TBC1D9B silent S909S NM_198868 10-PARSGC TBC1D9B SYNONYMOUS SNP Somatic 6 0.230 SQHIGH 16 34 50 0 52 52 Cosmic_Gene G G A G G TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 23061 5 179296833 179296833 56 ALL diagnosis snv KIAA1244 missense A761V NM_020340 10-PARSGC KIAA1244 MISSENSE SNP Somatic 2 0.150 SQHIGH 13 43 56 0 45 45 Cosmic_Gene C C T C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 57221 6 138599741 138599741 36 ALL diagnosis snv HEATR2 silent A380A NM_017802 10-PARSGC HEATR2 SYNONYMOUS SNP Somatic -7 0.069 SQHIGH 5 12 17 0 15 15 Cosmic_Gene A A C A A TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 54919 7 794341 794341 15 ALL diagnosis snv SPATA31E1 silent T523T NM_178828 10-PARSGC SPATA31E1 SYNONYMOUS SNP Somatic 6 0.230 SQHIGH 9 22 31 0 46 46 Cosmic_Gene C C G C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 286234 9 90500971 90500971 39 ALL diagnosis snv SLK missense H1124Y NM_014720 10-PARSGC SLK MISSENSE SNP Somatic PFAM:PF12474:PKK 7 0.256 SQHIGH 10 12 22 0 49 49 Cosmic_Gene C C T C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 9748 10 105780294 105780294 59 ALL diagnosis snv OSBPL5 missense E626K NM_020896 10-PARSGC OSBPL5 MISSENSE SNP Somatic PFAM:PF01237:Oxysterol_BP 17 0.831 SQHIGH 22 19 41 0 57 57 Cosmic_Gene C C T C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 114879 11 3114827 3114827 103 ALL diagnosis snv CREBBP missense R1446C NM_004380 10-PARSGC CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 2 0.150 SQHIGH 33 14 47 1 43 44 COSMIC:mut:88749 Cosmic_Gene G G A G G TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 1387 16 3788618 3788618 119 ALL diagnosis snv ZNRF4 missense S219L NM_181710 10-PARSGC ZNRF4 MISSENSE SNP Somatic -10 0.055 SQHIGH 13 17 30 1 39 40 Cosmic_Gene C C T C C TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 148066 19 5456158 5456158 46 ALL diagnosis snv CIC missense S132P NM_015125 10-PARSGC CIC MISSENSE SNP Somatic -9 0.059 SQHIGH 6 19 25 0 23 23 Cosmic_Gene T T C T T TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 23152 19 42791334 42791334 18 ALL relapse snv DDR2 missense R489Q NM_001014796 10-PARSZH DDR2 MISSENSE SNP Somatic 3 0.129 SQHIGH 12 57 69 0 59 59 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 4921 1 162740264 162740264 34 ALL relapse snv WNT6 missense R199H NM_006522 10-PARSZH WNT6 MISSENSE SNP Somatic PFAM:PF00110:wnt -10 0.043 SQHIGH 5 16 21 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 7475 2 219736501 219736501 20 ALL relapse snv ERC2 missense R528C NM_015576 10-PARSZH ERC2 MISSENSE SNP Somatic PFAM:PF10174:Cast 12 0.387 SQHIGH 15 26 41 0 31 31 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 26059 3 56114904 56114904 43 ALL relapse snv OR5H6 missense A219T NM_001005479 10-PARSZH OR5H6 MISSENSE SNP dbsnp.134:rs144411993 Somatic PFAM:PF00001:7tm_1 15 0.633 SQHIGH 22 22 44 0 47 47 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 79295 3 97983783 97983783 85 ALL relapse snv P2RY1 missense V173M NM_002563 10-PARSZH P2RY1 MISSENSE SNP Somatic 13 0.446 SQHIGH 34 39 73 2 61 63 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 5028 3 152554088 152554088 88 ALL relapse snv SEL1L3 nonsense R273* NM_015187 10-PARSZH SEL1L3 NONSENSE SNP Somatic 0 0.095 SQHIGH 23 23 46 1 38 39 G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 23231 4 25836862 25836862 64 ALL relapse snv SDAD1 missense R601H NM_018115 10-PARSZH SDAD1 MISSENSE SNP dbsnp.134:rs145274078 Somatic PFAM:PF05285:SDA1 -1 0.087 SQHIGH 9 41 50 0 56 56 Cosmic_Gene C C T C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 55153 4 76878530 76878530 31 ALL relapse snv GLRA3 missense N177D NM_006529 10-PARSZH GLRA3 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 0 0.095 SQHIGH 6 20 26 0 21 21 Cosmic_Gene T T C T T TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 8001 4 175636684 175636684 17 ALL relapse snv PCDHA13 missense S406L NM_018904 10-PARSZH PCDHA4|PCDHA11|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA10|PCDHA13|PCDHA12|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON|INTRON SNP Somatic 10 0.296 SQHIGH 15 33 48 0 50 50 Cosmic_Gene C C T C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 56144|56138|56147|9752|56143|56140|56142|56141|56139|56136|56137|56145|56146 5 140263070 140263070 52 ALL relapse snv OR2B2 missense M317V NM_033057 10-PARSZH OR2B2 MISSENSE SNP Somatic 0 0.095 SQHIGH 20 28 48 0 33 33 T T C T T TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 81697 6 27879149 27879149 54 ALL relapse snv HCRTR2 silent D35D NM_001526 10-PARSZH HCRTR2 SYNONYMOUS SNP Somatic -4 0.067 SQHIGH 13 12 25 0 21 21 Cosmic_Gene C C T C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 3062 6 55039490 55039490 43 ALL relapse snv RIMS1 missense S474R NM_014989 10-PARSZH RIMS1 MISSENSE SNP Somatic 11 0.338 SQHIGH 8 10 18 0 55 55 Cosmic_Gene C C A C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 22999 6 72892596 72892596 55 ALL relapse snv DPP6 missense A317T NM_130797 10-PARSZH DPP6 MISSENSE SNP Somatic PFAM:PF00930:DPPIV_N 17 0.851 SQHIGH 34 5 39 0 51 51 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 1804 7 154561192 154561192 191 ALL relapse snv STMN4 missense R113W NM_030795 10-PARSZH STMN4 MISSENSE SNP Somatic PFAM:PF00836:Stathmin -3 0.072 SQHIGH 7 34 41 0 44 44 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 81551 8 27098633 27098633 23 ALL relapse snv UNC5D missense V412M NM_080872 10-PARSZH UNC5D MISSENSE SNP Somatic 18 0.890 SQHIGH 20 19 39 0 40 40 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 137970 8 35579844 35579844 76 ALL relapse snv SLC45A4 silent G685G NM_001080431 10-PARSZH SLC45A4 SYNONYMOUS SNP Somatic 7 0.208 SQHIGH 13 23 36 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 57210 8 142222389 142222389 39 ALL relapse snv LOC101927954 EXON E6_exon NM_001083536 10-PARSZH FGD3 INTRON SNP Somatic 15 0.633 SQHIGH 11 26 37 1 41 42 Cosmic_Gene T T C T T TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 89846 9 95772389 95772389 31 ALL relapse snv CFAP46 splice_region G778_E18splice_region NM_001200049 10-PARSZH CFAP46 DONOR SNP Somatic 12 0.387 SQHIGH 15 16 31 0 32 32 C C T C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 100506209 10 134726545 134726545 56 ALL relapse snv MUC5B silent G1667G NM_002458 10-PARSZH MUC5B SYNONYMOUS SNP Somatic 15 0.633 SQHIGH 26 30 56 0 64 64 T T C T T TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 727897 11 1263111 1263111 104 ALL relapse snv ANO5 missense D343G NM_213599 10-PARSZH ANO5 MISSENSE SNP Somatic PFAM:PF04547:Anoctamin 11 0.338 SQHIGH 18 27 45 0 37 37 Cosmic_Gene A A G A A TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 203859 11 22272301 22272301 55 ALL relapse snv ARHGAP20 silent V822V NM_020809 10-PARSZH ARHGAP20 SYNONYMOUS SNP Somatic 1 0.106 SQHIGH 12 45 57 0 60 60 Cosmic_Gene C C A C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 57569 11 110451204 110451204 40 ALL relapse snv IKZF4 silent G333G NM_022465 10-PARSZH IKZF4 SYNONYMOUS SNP Somatic 14 0.523 SQHIGH 22 20 42 0 47 47 Cosmic_Gene C C T C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 64375 12 56428356 56428356 89 ALL relapse snv ATP2B1 missense G1103S NM_001001323 10-PARSZH ATP2B1 MISSENSE SNP Somatic PFAM:PF12424:ATP_Ca_trans_C 6 0.184 SQHIGH 26 36 62 0 59 59 Cosmic_Gene C C T C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 490 12 89992938 89992938 90 ALL relapse snv GALC silent L157L NM_000153 10-PARSZH GALC SYNONYMOUS SNP Somatic PFAM:PF02057:Glyco_hydro_59 17 0.851 SQHIGH 11 16 27 0 31 31 G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 2581 14 88450851 88450851 42 ALL relapse snv RYR3 missense R159K NM_001036 10-PARSZH RYR3 MISSENSE SNP Somatic PFAM:PF08709:Ins145_P3_rec 20 1.000 SQHIGH 16 17 33 0 42 42 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 6263 15 33831593 33831593 69 ALL relapse snv MYO9A missense N988H NM_006901 10-PARSZH MYO9A MISSENSE SNP Somatic PFAM:PF00225:Kinesin 0 0.095 SQHIGH 9 12 21 0 34 34 Cosmic_Gene T T G T T TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 4649 15 72195320 72195320 43 ALL relapse snv LINGO1 missense R391W NM_032808 10-PARSZH LINGO1 MISSENSE SNP Somatic 14 0.523 SQHIGH 18 13 31 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 84894 15 77907078 77907078 67 ALL relapse snv CREBBP missense P1494A NM_004380 10-PARSZH CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 15 0.633 SQHIGH 29 28 57 0 37 37 Cosmic_Gene G G C G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 1387 16 3786731 3786731 80 ALL relapse snv CDH8 nonsense E470* NM_001796 10-PARSZH CDH8 NONSENSE SNP Somatic 2 0.116 SQHIGH 14 17 31 0 30 30 Cosmic_Gene C C A C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 1006 16 61823256 61823256 49 ALL relapse snv PIP4K2B missense A391G NM_003559 10-PARSZH PIP4K2B MISSENSE SNP Somatic PFAM:PF01504:PIP5K 14 0.523 SQHIGH 27 28 55 0 60 60 Cosmic_Gene G G C G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 8396 17 36926023 36926023 106 ALL relapse snv SLC14A2 missense F772L NM_007163 10-PARSZH SLC14A2 MISSENSE SNP Somatic PFAM:PF03253:UT 17 0.851 SQHIGH 30 30 60 0 44 44 Cosmic_Gene C C G C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 8170 18 43252951 43252951 90 ALL relapse snv CCBE1 splice_region K218_E6splice_region NM_133459 10-PARSZH CCBE1 DONOR SNP dbsnp.134:rs150596993 Somatic 11 0.338 SQHIGH 23 34 57 0 56 56 Cosmic_Gene C C T C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 147372 18 57122078 57122078 80 ALL relapse snv NTN5 missense V39M NM_145807 10-PARSZH SEC1|NTN5 INTRON|MISSENSE SNP Somatic 6 0.184 SQHIGH 14 30 44 0 32 32 COSMIC:mut:50470 Cosmic_Gene C C T C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 653677|126147 19 49174129 49174129 38 ALL relapse snv IL4I1 missense D193N NM_152899 10-PARSZH IL4I1 MISSENSE SNP Somatic PFAM:PF01593:Amino_oxidase 6 0.184 SQHIGH 23 38 61 0 52 52 Cosmic_Gene C C T C C TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 259307 19 50394721 50394721 72 ALL relapse snv KRTAP26-1 missense S167G NM_203405 10-PARSZH KRTAP26-1 MISSENSE SNP Somatic PFAM:PF05287:PMG 1 0.106 SQHIGH 33 83 116 0 49 49 Cosmic_Gene T T C T T TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 388818 21 31691855 31691855 58 ALL relapse snv P2RY4 missense S6Y NM_002565 10-PARSZH P2RY4 MISSENSE SNP Somatic 6 0.184 SQHIGH 22 68 90 0 56 56 Cosmic_Gene G G T G G TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 5030 X 69479458 69479458 51 ALL relapse complex ASXL2 nonsense T1164>S* NM_018263 10-PARSZH ASXL2 NONSENSE Sub Somatic 2 0.757 SQHIGH 51 56 107 0 69 69 Cosmic_Gene TGT TGT TAGGA TGT TGT TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 55252 2 25965714 25965716 138 ALL diagnosis snv PTPRF missense R1343C NM_002840 10-PARSZH PTPRF MISSENSE SNP Somatic -7 0.054 SQHIGH 7 44 51 0 47 47 Cosmic_Gene C C T C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 5792 1 44079342 44079342 21 ALL diagnosis snv TTN missense T8918M NM_133378 10-PARSZH TTN INTRON,MISSENSE SNP Somatic PFAM:PF00047:ig 1 0.109 SQHIGH 9 23 32 0 15 15 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 7273 2 179566921 179566921 17 ALL diagnosis snv ERC2 missense R528C NM_015576 10-PARSZH ERC2 MISSENSE SNP Somatic PFAM:PF10174:Cast 11 0.342 SQHIGH 12 31 43 0 31 31 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 26059 3 56114904 56114904 32 ALL diagnosis snv OR5H6 missense A219T NM_001005479 10-PARSZH OR5H6 MISSENSE SNP dbsnp.134:rs144411993 Somatic PFAM:PF00001:7tm_1 6 0.187 SQHIGH 18 36 54 0 47 47 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 79295 3 97983783 97983783 56 ALL diagnosis snv SEL1L3 nonsense R273* NM_015187 10-PARSZH SEL1L3 NONSENSE SNP Somatic -2 0.081 SQHIGH 14 41 55 1 38 39 G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 23231 4 25836862 25836862 27 ALL diagnosis snv PCDHA13 missense S406L NM_018904 10-PARSZH PCDHA4|PCDHA11|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA10|PCDHA13|PCDHA12|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON|INTRON SNP Somatic 11 0.342 SQHIGH 18 28 46 0 50 50 Cosmic_Gene C C T C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 56144|56138|56147|9752|56143|56140|56142|56141|56139|56136|56137|56145|56146 5 140263070 140263070 67 ALL diagnosis snv RIMS1 missense S474R NM_014989 10-PARSZH RIMS1 MISSENSE SNP Somatic 15 0.637 SQHIGH 10 17 27 0 55 55 Cosmic_Gene C C A C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 22999 6 72892596 72892596 54 ALL diagnosis snv DPP6 missense A317T NM_130797 10-PARSZH DPP6 MISSENSE SNP Somatic PFAM:PF00930:DPPIV_N 16 0.713 SQHIGH 31 16 47 0 51 51 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 1804 7 154561192 154561192 133 ALL diagnosis snv SLC45A4 silent G685G NM_001080431 10-PARSZH SLC45A4 SYNONYMOUS SNP Somatic 3 0.132 SQHIGH 6 22 28 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 57210 8 142222389 142222389 20 ALL diagnosis snv ADAMTS14 missense V661M NM_139155 10-PARSZH ADAMTS14 MISSENSE SNP Somatic -2 0.081 SQHIGH 9 37 46 0 52 52 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 140766 10 72503351 72503351 32 ALL diagnosis snv CFAP46 splice_region G778_E18splice_region NM_001200049 10-PARSZH CFAP46 DONOR SNP Somatic 10 0.299 SQHIGH 9 13 22 0 32 32 C C T C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 100506209 10 134726545 134726545 40 ALL diagnosis snv MUC5B silent G1667G NM_002458 10-PARSZH MUC5B SYNONYMOUS SNP Somatic 6 0.187 SQHIGH 21 30 51 0 64 64 T T C T T TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 727897 11 1263111 1263111 87 ALL diagnosis snv SCN8A silent L1862L NM_014191 10-PARSZH SCN8A|FLJ33996 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -5 0.063 SQHIGH 5 34 39 0 35 35 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 6334|283401 12 52200856 52200856 14 ALL diagnosis snv IKZF4 silent G333G NM_022465 10-PARSZH IKZF4 SYNONYMOUS SNP Somatic 5 0.161 SQHIGH 14 38 52 0 47 47 Cosmic_Gene C C T C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 64375 12 56428356 56428356 43 ALL diagnosis snv ATP2B1 missense G1103S NM_001001323 10-PARSZH ATP2B1 MISSENSE SNP Somatic PFAM:PF12424:ATP_Ca_trans_C 11 0.342 SQHIGH 35 47 82 0 59 59 Cosmic_Gene C C T C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 490 12 89992938 89992938 100 ALL diagnosis snv FLT3 missense M837T NM_004119 10-PARSZH FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 1 0.109 SQHIGH 11 53 64 1 66 67 Cosmic_Gene A A G A A TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 2322 13 28592635 28592635 28 ALL diagnosis snv GALC silent L157L NM_000153 10-PARSZH GALC SYNONYMOUS SNP Somatic PFAM:PF02057:Glyco_hydro_59 18 0.891 SQHIGH 15 18 33 0 31 31 G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 2581 14 88450851 88450851 52 ALL diagnosis snv RYR3 missense R159K NM_001036 10-PARSZH RYR3 MISSENSE SNP Somatic PFAM:PF08709:Ins145_P3_rec 17 0.853 SQHIGH 11 20 31 0 42 42 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 6263 15 33831593 33831593 46 ALL diagnosis snv MYO9A missense N988H NM_006901 10-PARSZH MYO9A MISSENSE SNP Somatic PFAM:PF00225:Kinesin 0 0.098 SQHIGH 8 11 19 0 34 34 Cosmic_Gene T T G T T TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 4649 15 72195320 72195320 41 ALL diagnosis snv LINGO1 missense R391W NM_032808 10-PARSZH LINGO1 MISSENSE SNP Somatic -2 0.081 SQHIGH 7 19 26 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 84894 15 77907078 77907078 25 ALL diagnosis snv CREBBP missense P1494A NM_004380 10-PARSZH CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 6 0.187 SQHIGH 18 35 53 0 37 37 Cosmic_Gene G G C G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 1387 16 3786731 3786731 48 ALL diagnosis snv CDH8 nonsense E470* NM_001796 10-PARSZH CDH8 NONSENSE SNP Somatic -3 0.074 SQHIGH 8 27 35 0 30 30 Cosmic_Gene C C A C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 1006 16 61823256 61823256 23 ALL diagnosis snv PIP4K2B missense A391G NM_003559 10-PARSZH PIP4K2B MISSENSE SNP Somatic PFAM:PF01504:PIP5K 7 0.211 SQHIGH 20 40 60 0 60 60 Cosmic_Gene G G C G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 8396 17 36926023 36926023 68 ALL diagnosis snv SLC14A2 missense F772L NM_007163 10-PARSZH SLC14A2 MISSENSE SNP Somatic PFAM:PF03253:UT 5 0.161 SQHIGH 13 37 50 0 44 44 Cosmic_Gene C C G C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 8170 18 43252951 43252951 39 ALL diagnosis snv CCBE1 splice_region K218_E6splice_region NM_133459 10-PARSZH CCBE1 DONOR SNP dbsnp.134:rs150596993 Somatic 12 0.391 SQHIGH 14 28 42 0 56 56 Cosmic_Gene C C T C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 147372 18 57122078 57122078 58 ALL diagnosis snv IL4I1 missense D193N NM_152899 10-PARSZH IL4I1 MISSENSE SNP Somatic PFAM:PF01593:Amino_oxidase 9 0.266 SQHIGH 20 34 54 0 52 52 Cosmic_Gene C C T C C TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 259307 19 50394721 50394721 68 ALL diagnosis snv KCNG1 silent R214R NM_002237 10-PARSZH KCNG1 SYNONYMOUS SNP Somatic -3 0.074 SQHIGH 10 35 45 0 37 37 Cosmic_Gene G G A G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 3755 20 49626234 49626234 28 ALL diagnosis snv KRTAP26-1 missense S167G NM_203405 10-PARSZH KRTAP26-1 MISSENSE SNP Somatic PFAM:PF05287:PMG -7 0.054 SQHIGH 19 99 118 0 49 49 Cosmic_Gene T T C T T TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 388818 21 31691855 31691855 31 ALL diagnosis snv P2RY4 missense S6Y NM_002565 10-PARSZH P2RY4 MISSENSE SNP Somatic 7 0.211 SQHIGH 21 58 79 0 56 56 Cosmic_Gene G G T G G TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 5030 X 69479458 69479458 54 ALL diagnosis complex ASXL2 nonsense T1164>S* NM_018263 10-PARSZH ASXL2 NONSENSE Sub Somatic 0 0.575 SQHIGH 24 51 75 0 69 69 Cosmic_Gene TGT TGT TAGGA TGT TGT TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 55252 2 25965714 25965716 77 ALL relapse snv MEFV missense A48S NM_000243 10-PARTJL MEFV MISSENSE SNP Somatic 7 0.183 SQHIGH 9 28 37 2 45 47 Cosmic_Gene C C A C C TARGET-10-PARTJL-04A-01D TARGET-10-PARTJL-14A-01D 4210 16 3306446 3306446 21 ALL diagnosis snv FMO3 missense R186H NM_006894 10-PARTJL FMO3 MISSENSE SNP dbsnp.134:rs143406401 Somatic PFAM:PF00743:FMO-like -10 0.037 SQHIGH 6 44 50 0 61 61 Cosmic_Gene G G A G G TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 2328 1 171077292 171077292 22 ALL diagnosis snv SCG2 missense G420A NM_003469 10-PARTJL SCG2 MISSENSE SNP Somatic PFAM:PF01271:Granin 4 0.128 SQHIGH 12 52 64 1 73 74 Cosmic_Gene C C G C C TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 7857 2 224462742 224462742 34 ALL diagnosis snv ROBO2 missense L1364I NM_001290039 10-PARTJL ROBO2 MISSENSE SNP Somatic 3 0.115 SQHIGH 7 29 36 0 32 32 Cosmic_Gene C C A C C TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 6092 3 77693998 77693998 21 ALL diagnosis snv VWDE missense Q789E NM_001135924 10-PARTJL VWDE MISSENSE SNP Somatic -6 0.051 SQHIGH 7 50 57 0 61 61 G G C G G TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 221806 7 12409567 12409567 23 ALL diagnosis snv WNT2 splice_region W28_E1splice_region NM_003391 10-PARTJL WNT2 DONOR SNP Somatic 3 0.115 SQHIGH 7 25 32 1 38 39 Cosmic_Gene C C T C C TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 7472 7 116962956 116962956 19 ALL diagnosis snv BCDIN3D missense R204Q NM_181708 10-PARTJL LOC100286844|BCDIN3D UTR|MISSENSE SNP Somatic PFAM:PF00398:RrnaAD 8 0.220 SQHIGH 8 26 34 0 42 42 Cosmic_Gene C C T C C TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 100286844|144233 12 50232422 50232422 30 ALL diagnosis snv PDS5B splice S708_E19splice NM_015032 10-PARTJL PDS5B DISRUPT SNP Somatic -8 0.043 SQHIGH 6 17 23 0 33 33 Cosmic_Gene G G A G G TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 23047 13 33284244 33284244 25 ALL diagnosis snv FAM83F silent S363S NM_138435 10-PARTJL FAM83F SYNONYMOUS SNP dbsnp.134:rs145137330 Somatic -6 0.051 SQHIGH 4 20 24 0 41 41 Cosmic_Gene C C T C C TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 113828 22 40417603 40417603 18 ALL diagnosis snv MAGEE2 missense S324R NM_138703 10-PARTJL MAGEE2 MISSENSE SNP Somatic PFAM:PF01454:MAGE 1 0.094 SQHIGH 14 79 93 0 69 69 Cosmic_Gene T T G T T TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 139599 X 75003917 75003917 36 ALL diagnosis mnv MAP4K2 missense P439_L440>PP NM_004579 10-PARTJL MAP4K2 MISSENSE Sub Somatic -3 0.382 SQHIGH 5 22 27 0 50 50 Cosmic_Gene CAGT CAGT TGGG CAGT CAGT TARGET-10-PARTJL-09A-01D TARGET-10-PARTJL-14A-01D 5871 11 64564621 64564624 24 ALL relapse snv TOE1 splice_region S304_E7splice_region NM_025077 10-PARTKL TOE1|MUTYH INTRON|TSS-UPSTREAM SNP Somatic -10 0.039 SQHIGH 6 52 58 0 68 68 Cosmic_Gene C C A C C TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 114034|4595 1 45808682 45808682 21 ALL relapse snv ZNF326 missense Y43C NM_182976 10-PARTKL ZNF326 MISSENSE SNP dbsnp.134:rs138323304 Somatic 5 0.154 SQHIGH 9 19 28 0 32 32 Cosmic_Gene A A G A A TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 284695 1 90470722 90470722 33 ALL relapse snv LPPR4 missense N415Y NM_014839 10-PARTKL LPPR4 MISSENSE SNP Somatic 3 0.123 SQHIGH 9 34 43 0 44 44 Cosmic_Gene A A T A A TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 9890 1 99771517 99771517 30 ALL relapse snv NRAS missense G12D NM_002524 10-PARTKL NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 14 0.509 SQHIGH 29 30 59 0 54 54 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 4893 1 115258747 115258747 101 ALL relapse snv ABCA12 missense V2103I NM_173076 10-PARTKL ABCA12 MISSENSE SNP Somatic 2 0.110 SQHIGH 10 52 62 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 26154 2 215820012 215820012 30 ALL relapse snv IGFBP2 missense G157A NM_000597 10-PARTKL IGFBP2 MISSENSE SNP Somatic 6 0.185 SQHIGH 18 38 56 1 68 69 G G C G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 3485 2 217525307 217525307 60 ALL relapse snv HCN1 missense Q756L NM_021072 10-PARTKL HCN1 MISSENSE SNP Somatic 13 0.435 SQHIGH 8 19 27 0 39 39 Cosmic_Gene T T A T T TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 348980 5 45262429 45262429 34 ALL relapse snv ERBB2IP silent A1113A NM_018695 10-PARTKL ERBB2IP SYNONYMOUS SNP Somatic -4 0.062 SQHIGH 8 45 53 0 45 45 Cosmic_Gene G G C G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 55914 5 65350485 65350485 22 ALL relapse snv GFPT2 splice_region G320_E11splice_region NM_005110 10-PARTKL GFPT2 ACCEPTOR SNP Somatic 6 0.185 SQHIGH 17 41 58 0 73 73 Cosmic_Gene G G A G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 9945 5 179744062 179744062 67 ALL relapse snv EHMT2 missense I667N NM_006709 10-PARTKL EHMT2 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 6 0.185 SQHIGH 24 76 100 0 70 70 Cosmic_Gene A A T A A TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 10919 6 31855365 31855365 61 ALL relapse snv ITGB8 missense A5S NM_002214 10-PARTKL ITGB8|LOC100506130 MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.185 SQHIGH 16 35 51 0 55 55 Cosmic_Gene G G T G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 3696|100506130 7 20371442 20371442 57 ALL relapse snv MEGF9 missense I362V NM_001080497 10-PARTKL MEGF9 MISSENSE SNP Somatic 18 0.881 SQHIGH 17 11 28 0 26 26 T T C T T TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 1955 9 123374677 123374677 63 ALL relapse snv MALRD1 missense S680R NM_001142308 10-PARTKL MALRD1 MISSENSE SNP Somatic -2 0.074 SQHIGH 9 20 29 0 44 44 T T A T T TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 100652979 10 19492745 19492745 40 ALL relapse snv SMC3 missense R661P NM_005445 10-PARTKL SMC3 MISSENSE SNP Somatic 10 0.294 SQHIGH 14 28 42 0 39 39 Cosmic_Gene G G C G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 9126 10 112356174 112356174 45 ALL relapse snv UBQLN3 missense D152E NM_017481 10-PARTKL UBQLN3 MISSENSE SNP Somatic -1 0.081 SQHIGH 7 37 44 0 59 59 Cosmic_Gene G G C G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 50613 11 5530333 5530333 27 ALL relapse snv PSMA6 missense D46H NM_002791 10-PARTKL PSMA6 MISSENSE SNP Somatic -5 0.057 SQHIGH 8 57 65 0 38 38 G G C G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 5687 14 35777259 35777259 17 ALL relapse snv CREBBP missense R1446H NM_004380 10-PARTKL CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 1 0.099 SQHIGH 11 43 54 0 47 47 COSMIC:mut:88748 Cosmic_Gene C C T C C TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 1387 16 3788617 3788617 32 ALL relapse snv CREBBP nonsense R1360* NM_004380 10-PARTKL CREBBP NONSENSE SNP Somatic PFAM:PF08214:KAT11 5 0.154 SQHIGH 6 17 23 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 1387 16 3790455 3790455 23 ALL relapse snv PRDM7 missense V355G NM_001098173 10-PARTKL PRDM7 INTRON,MISSENSE SNP Somatic PFAM:PF00856:SET -8 0.045 SQHIGH 7 18 25 2 45 47 Cosmic_Gene A A C A A TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 11105 16 90126918 90126918 22 ALL relapse snv RAPGEFL1 splice_region K39_E3splice_region NM_016339 10-PARTKL RAPGEFL1 INTRON SNP Somatic 8 0.234 SQHIGH 10 28 38 0 48 48 Cosmic_Gene C C A C C TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 51195 17 38340608 38340608 39 ALL relapse snv KRT33B missense T299M NM_002279 10-PARTKL KRT33B MISSENSE SNP Somatic PFAM:PF00038:Filament -4 0.062 SQHIGH 7 34 41 0 48 48 G G A G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 3884 17 39521232 39521232 25 ALL relapse snv DHX58 missense R40W NM_024119 10-PARTKL DHX58 MISSENSE SNP Somatic 9 0.262 SQHIGH 13 33 46 0 50 50 G G A G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 79132 17 40263793 40263793 46 ALL relapse snv COL1A1 splice_region G644_E29splice_region NM_000088 10-PARTKL COL1A1 ACCEPTOR SNP Somatic -10 0.039 SQHIGH 6 47 53 0 29 29 Cosmic_Gene G G A G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 1277 17 48269895 48269895 12 ALL relapse snv USP36 missense A1012S NM_025090 10-PARTKL USP36 MISSENSE SNP Somatic 5 0.154 SQHIGH 14 50 64 0 49 49 Cosmic_Gene C C A C C TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 57602 17 76795839 76795839 38 ALL relapse snv PHF20 missense G927D NM_016436 10-PARTKL PHF20 MISSENSE SNP Somatic 8 0.234 SQHIGH 9 26 35 0 33 33 Cosmic_Gene G G A G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 51230 20 34528853 34528853 28 ALL relapse snv SLC2A10 silent R231R NM_030777 10-PARTKL SLC2A10 SYNONYMOUS SNP Somatic 6 0.185 SQHIGH 21 39 60 0 72 72 Cosmic_Gene G G A G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 81031 20 45354368 45354368 82 ALL relapse snv MICAL3 missense R1831C NM_015241 10-PARTKL MICAL3 MISSENSE SNP Somatic 9 0.262 SQHIGH 16 31 47 1 70 71 G G A G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 57553 22 18293534 18293534 61 ALL relapse snv MYO18B missense G82R NM_032608 10-PARTKL MYO18B MISSENSE SNP Somatic 6 0.185 SQHIGH 9 20 29 0 33 33 Cosmic_Gene G G C G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 84700 22 26164127 26164127 33 ALL relapse snv SLC5A1 missense V310M NM_000343 10-PARTKL SLC5A1 MISSENSE,UTR SNP Somatic PFAM:PF00474:SSF 11 0.332 SQHIGH 13 35 48 0 52 52 Cosmic_Gene G G A G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 6523 22 32480929 32480929 46 ALL relapse snv EP300 missense Y1414C NM_001429 10-PARTKL EP300 MISSENSE SNP Somatic PFAM:PF08214:KAT11 5 0.154 SQHIGH 11 37 48 0 49 49 Cosmic_Gene A A G A A TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 2033 22 41565575 41565575 36 ALL relapse snv L3MBTL2 missense L297I NM_031488 10-PARTKL L3MBTL2|LOC100506544 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF02820:MBT 12 0.380 SQHIGH 15 32 47 0 73 73 Cosmic_Gene C C A C C TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 83746|100506544 22 41617238 41617238 68 ALL relapse snv MUM1L1 missense E264Q NM_152423 10-PARTKL MUM1L1 MISSENSE SNP Somatic 3 0.123 SQHIGH 14 68 82 0 65 65 Cosmic_Gene G G C G G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 139221 X 105450215 105450215 38 ALL relapse mnv USP36 missense P1014_V1015>PF NM_025090 10-PARTKL USP36 MISSENSE Sub Somatic -2 0.428 SQHIGH 20 62 82 0 54 54 Cosmic_Gene CACA CACA AAAG CACA CACA TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 57602 17 76795828 76795831 49 ALL relapse mnv USP36 missense P1013T NM_025090 10-PARTKL USP36 MISSENSE Sub Somatic -2 0.428 SQHIGH 14 54 68 0 45 45 Cosmic_Gene AGG AGG CGT AGG AGG TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 57602 17 76795834 76795836 33 ALL diagnosis snv NRAS missense G12D NM_002524 10-PARTKL NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 11 0.337 SQHIGH 12 30 42 0 54 54 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PARTKL-09A-01D TARGET-10-PARTKL-14A-01D 4893 1 115258747 115258747 48 ALL diagnosis snv MEGF9 missense I362V NM_001080497 10-PARTKL MEGF9 MISSENSE SNP Somatic 10 0.298 SQHIGH 9 9 18 0 26 26 T T C T T TARGET-10-PARTKL-09A-01D TARGET-10-PARTKL-14A-01D 1955 9 123374677 123374677 42 ALL diagnosis snv RASGRF1 missense K158Q NM_002891 10-PARTKL RASGRF1 MISSENSE SNP Somatic 1 0.101 SQHIGH 6 40 46 1 60 61 Cosmic_Gene T T G T T TARGET-10-PARTKL-09A-01D TARGET-10-PARTKL-14A-01D 5923 15 79350735 79350735 16 ALL diagnosis snv CREBBP nonsense R1360* NM_004380 10-PARTKL CREBBP NONSENSE SNP Somatic PFAM:PF08214:KAT11 9 0.265 SQHIGH 8 12 20 0 28 28 Cosmic_Gene G G A G G TARGET-10-PARTKL-09A-01D TARGET-10-PARTKL-14A-01D 1387 16 3790455 3790455 35 ALL diagnosis snv MICAL3 missense R1831C NM_015241 10-PARTKL MICAL3 MISSENSE SNP Somatic 10 0.298 SQHIGH 35 40 75 1 70 71 G G A G G TARGET-10-PARTKL-09A-01D TARGET-10-PARTKL-14A-01D 57553 22 18293534 18293534 110 ALL diagnosis snv EP300 missense Y1414C NM_001429 10-PARTKL EP300 MISSENSE SNP Somatic PFAM:PF08214:KAT11 13 0.439 SQHIGH 21 24 45 0 49 49 Cosmic_Gene A A G A A TARGET-10-PARTKL-09A-01D TARGET-10-PARTKL-14A-01D 2033 22 41565575 41565575 81 ALL relapse snv F5 missense R2108C NM_000130 10-PARTRW F5 MISSENSE SNP Somatic 15 0.726 SQHIGH 12 19 31 0 51 51 Cosmic_Gene G G A G G TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 2153 1 169487673 169487673 58 ALL relapse snv DPP10 nonsense E784* NM_020868 10-PARTRW DPP10 NONSENSE SNP Somatic PFAM:PF06342:DUF1057 -4 0.080 SQHIGH 12 39 51 0 41 41 Cosmic_Gene G G T G G TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 57628 2 116599880 116599880 34 ALL relapse snv IL5RA missense G217S NM_000564 10-PARTRW IL5RA MISSENSE SNP Somatic PFAM:PF09067:EpoR_lig-bind 14 0.655 SQHIGH 9 19 28 0 60 60 Cosmic_Gene C C T C C TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 3568 3 3139614 3139614 49 ALL relapse snv ATXN7 missense G782R NM_000333 10-PARTRW ATXN7 MISSENSE SNP dbsnp.134:rs148498434 Somatic -5 0.073 SQHIGH 5 22 27 0 38 38 G G A G G TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 6314 3 63981842 63981842 20 ALL relapse snv PCDH12 silent A529A NM_016580 10-PARTRW PCDH12 SYNONYMOUS SNP Somatic 5 0.220 SQHIGH 18 40 58 0 77 77 Cosmic_Gene G G A G G TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 51294 5 141335830 141335830 74 ALL relapse snv DDX41 missense R101L NM_016222 10-PARTRW DDX41 MISSENSE SNP Somatic 8 0.321 SQHIGH 23 31 54 0 76 76 C C A C C TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 51428 5 176943191 176943191 103 ALL relapse snv EYS missense W763C NM_001142800 10-PARTRW EYS MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 13 0.585 SQHIGH 10 14 24 0 28 28 Cosmic_Gene C C A C C TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 346007 6 65655778 65655778 39 ALL relapse snv SFRP4 missense D145N NM_003014 10-PARTRW EPDR1|SFRP4 TSS-UPSTREAM|MISSENSE SNP Somatic 2 0.155 SQHIGH 7 21 28 2 47 49 Cosmic_Gene C C T C C TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 54749|6424 7 37955707 37955707 20 ALL relapse snv PODXL missense A391S NM_001018111 10-PARTRW PODXL MISSENSE SNP Somatic PFAM:PF06365:CD34_antigen 2 0.155 SQHIGH 5 18 23 0 50 50 Cosmic_Gene C C A C C TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 5420 7 131191416 131191416 26 ALL relapse snv SSTR1 missense R167C NM_001049 10-PARTRW SSTR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 1 0.140 SQHIGH 5 19 24 0 44 44 Cosmic_Gene C C T C C TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 6751 14 38679093 38679093 24 ALL relapse snv HERC1 missense I4840S NM_003922 10-PARTRW HERC1 MISSENSE SNP Somatic 0 0.125 SQHIGH 9 35 44 1 69 70 Cosmic_Gene A A C A A TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 8925 15 63901347 63901347 31 ALL relapse snv LOC729159 missense R28C NM_001282301 10-PARTRW LOC729159 MISSENSE SNP Somatic -8 0.056 SQHIGH 9 18 27 0 36 36 G G A G G TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 729159 16 60393525 60393525 37 ALL relapse snv CASS4 missense L169R NM_001164116 10-PARTRW CASS4 MISSENSE SNP Somatic -4 0.080 SQHIGH 5 34 39 1 55 56 Cosmic_Gene T T G T T TARGET-10-PARTRW-04A-01D TARGET-10-PARTRW-10A-01D 57091 20 55021002 55021002 14 ALL diagnosis snv F5 missense R2108C NM_000130 10-PARTRW F5 MISSENSE SNP Somatic 6 0.298 SQHIGH 15 40 55 0 51 51 Cosmic_Gene G G A G G TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 2153 1 169487673 169487673 47 ALL diagnosis snv DPP10 nonsense E784* NM_020868 10-PARTRW DPP10 NONSENSE SNP Somatic PFAM:PF06342:DUF1057 1 0.152 SQHIGH 14 32 46 0 41 41 Cosmic_Gene G G T G G TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 57628 2 116599880 116599880 44 ALL diagnosis snv ATXN7 missense G782R NM_000333 10-PARTRW ATXN7 MISSENSE SNP dbsnp.134:rs148498434 Somatic 0 0.135 SQHIGH 16 38 54 0 38 38 G G A G G TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 6314 3 63981842 63981842 42 ALL diagnosis snv PCDH12 silent A529A NM_016580 10-PARTRW PCDH12 SYNONYMOUS SNP Somatic 7 0.340 SQHIGH 24 65 89 0 77 77 Cosmic_Gene G G A G G TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 51294 5 141335830 141335830 72 ALL diagnosis snv DDX41 missense R101L NM_016222 10-PARTRW DDX41 MISSENSE SNP Somatic 3 0.193 SQHIGH 15 57 72 0 76 76 C C A C C TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 51428 5 176943191 176943191 51 ALL diagnosis snv EYS missense W763C NM_001142800 10-PARTRW EYS MISSENSE SNP Somatic PFAM:PF07645:EGF_CA -3 0.096 SQHIGH 6 25 31 0 28 28 Cosmic_Gene C C A C C TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 346007 6 65655778 65655778 18 ALL diagnosis snv SFRP4 missense D145N NM_003014 10-PARTRW EPDR1|SFRP4 TSS-UPSTREAM|MISSENSE SNP Somatic 4 0.220 SQHIGH 23 47 70 2 47 49 Cosmic_Gene C C T C C TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 54749|6424 7 37955707 37955707 42 ALL diagnosis snv IKBIP missense W40G NM_153687 10-PARTRW IKBIP|APAF1 MISSENSE|TSS-UPSTREAM SNP Somatic -3 0.096 SQHIGH 4 14 18 0 26 26 Cosmic_Gene A A C A A TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 121457|317 12 99038362 99038362 16 ALL diagnosis snv AKAP6 missense K1665N NM_004274 10-PARTRW AKAP6 MISSENSE SNP Somatic -4 0.088 SQHIGH 10 43 53 0 49 49 Cosmic_Gene G G T G G TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 9472 14 33292014 33292014 30 ALL diagnosis snv SSTR1 missense R167C NM_001049 10-PARTRW SSTR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 0 0.135 SQHIGH 15 39 54 0 44 44 Cosmic_Gene C C T C C TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 6751 14 38679093 38679093 43 ALL diagnosis snv HERC1 missense I4840S NM_003922 10-PARTRW HERC1 MISSENSE SNP Somatic 0 0.135 SQHIGH 21 78 99 1 69 70 Cosmic_Gene A A C A A TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 8925 15 63901347 63901347 43 ALL diagnosis snv MAGEC2 silent E70E NM_016249 10-PARTRW MAGEC2 SYNONYMOUS SNP Somatic 15 0.807 SQHIGH 38 21 59 0 36 36 Cosmic_Gene C T C TARGET-10-PARTRW-09A-01D TARGET-10-PARTRW-10A-01D 51438 X 141291564 141291564 110 ALL diagnosis snv SPTBN1 splice_region D448_E12splice_region NM_003128 10-PARTYT SPTBN1 ACCEPTOR SNP Somatic 2 0.108 SQHIGH 26 57 83 0 80 80 Cosmic_Gene C C A C C TARGET-10-PARTYT-09A-01D TARGET-10-PARTYT-10A-01D 6711 2 54853061 54853061 86 ALL diagnosis snv TTN missense V10710I NM_133378 10-PARTYT TTN INTRON,MISSENSE SNP Somatic -4 0.062 SQHIGH 5 14 19 0 30 30 Cosmic_Gene C C T C C TARGET-10-PARTYT-09A-01D TARGET-10-PARTYT-10A-01D 7273 2 179516426 179516426 22 ALL diagnosis snv HDLBP missense R1079W NM_005336 10-PARTYT HDLBP MISSENSE SNP Somatic -10 0.039 SQHIGH 9 71 80 0 83 83 Cosmic_Gene G G A G G TARGET-10-PARTYT-09A-01D TARGET-10-PARTYT-10A-01D 3069 2 242173288 242173288 29 ALL diagnosis snv RICTOR missense L828W NM_152756 10-PARTYT RICTOR MISSENSE SNP Somatic -5 0.057 SQHIGH 5 24 29 0 25 25 Cosmic_Gene A A C A A TARGET-10-PARTYT-09A-01D TARGET-10-PARTYT-10A-01D 253260 5 38957770 38957770 14 ALL diagnosis snv PAK6 nonsense *682R NM_020168 10-PARTYT PAK6 NONSTOP SNP Somatic -3 0.067 SQHIGH 7 21 28 1 40 41 Cosmic_Gene T T A T T TARGET-10-PARTYT-09A-01D TARGET-10-PARTYT-10A-01D 56924 15 40568293 40568293 22 ALL diagnosis snv SLC13A5 missense G417R NM_177550 10-PARTYT SLC13A5 MISSENSE SNP Somatic PFAM:PF00939:Na_sulph_symp 9 0.244 SQHIGH 15 32 47 0 52 52 C C T C C TARGET-10-PARTYT-09A-01D TARGET-10-PARTYT-10A-01D 284111 17 6596389 6596389 55 ALL diagnosis snv TMEM194B missense H373Q NM_001142645 10-PARUBK TMEM194B MISSENSE SNP Somatic PFAM:PF10225:DUF2215 3 0.126 SQHIGH 6 21 27 0 21 21 G G C G G TARGET-10-PARUBK-03A-01D TARGET-10-PARUBK-10A-01D 100131211 2 191375098 191375098 16 ALL diagnosis snv CARD9 missense V130L NM_052813 10-PARUBK CARD9 MISSENSE SNP Somatic 15 0.619 SQHIGH 7 22 29 1 34 35 Cosmic_Gene C C G C C TARGET-10-PARUBK-03A-01D TARGET-10-PARUBK-10A-01D 64170 9 139265532 139265532 19 ALL diagnosis snv FAM47A missense P471S NM_203408 10-PARUBK FAM47A MISSENSE SNP Somatic 11 0.326 SQHIGH 17 24 41 0 38 38 Cosmic_Gene G G A G G TARGET-10-PARUBK-03A-01D TARGET-10-PARUBK-10A-01D 158724 X 34148985 34148985 57 ALL diagnosis snv ANKMY1 missense R31W NM_016552 10-PARUGP ANKMY1 MISSENSE SNP Somatic PFAM:PF02493:MORN 9 0.302 SQHIGH 14 34 48 0 57 57 Cosmic_Gene G G A G G TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 51281 2 241492453 241492453 53 ALL diagnosis snv TNIP2 missense A86P NM_024309 10-PARUGP TNIP2 TSS-UPSTREAM,MISSENSE SNP Somatic -8 0.050 SQHIGH 4 8 12 0 17 17 Cosmic_Gene C C G C C TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 79155 4 2757761 2757761 17 ALL diagnosis snv DPYSL3 missense Q327K NM_001387 10-PARUGP DPYSL3 MISSENSE SNP Somatic 3 0.142 SQHIGH 13 41 54 1 82 83 Cosmic_Gene G G T G G TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 1809 5 146780386 146780386 47 ALL diagnosis snv RUNX1T1 silent T70T NM_001198679 10-PARUGP RUNX1T1 SYNONYMOUS,INTRON,UTR5 SNP Somatic 12 0.424 SQHIGH 24 25 49 0 54 54 Cosmic_Gene G G T G G TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 862 8 93107311 93107311 95 ALL diagnosis snv NUMA1 nonsense R754* NM_006185 10-PARUGP NUMA1 NONSENSE SNP Somatic 10 0.336 SQHIGH 29 23 52 0 51 51 Cosmic_Gene G G A G G TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 4926 11 71726289 71726289 110 ALL diagnosis snv ARRB1 silent L347L NM_004041 10-PARUGP ARRB1 SYNONYMOUS SNP Somatic PFAM:PF00339:Arrestin_N 8 0.272 SQHIGH 19 37 56 1 50 51 Cosmic_Gene C C A C C TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 408 11 74979985 74979985 50 ALL diagnosis snv TECTA silent S1261S NM_005422 10-PARUGP TECTA SYNONYMOUS SNP Somatic 14 0.553 SQHIGH 26 32 58 0 53 53 Cosmic_Gene G G A G G TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 7007 11 121016503 121016503 88 ALL diagnosis snv TIRAP missense C174S NM_148910 10-PARUGP TIRAP MISSENSE SNP Somatic 6 0.217 SQHIGH 5 6 11 1 19 20 Cosmic_Gene G G C G G TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 114609 11 126162825 126162825 19 ALL diagnosis snv TLN2 splice_region K431_E12splice_region NM_015059 10-PARUGP TLN2 ACCEPTOR SNP dbsnp.132:rs77274088 Somatic 2 0.127 SQHIGH 17 19 36 0 33 33 Cosmic_Gene C C T C C TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 83660 15 62989881 62989881 58 ALL diagnosis snv MEFV missense A48S NM_000243 10-PARUGP MEFV MISSENSE SNP Somatic 10 0.336 SQHIGH 6 20 26 1 31 32 Cosmic_Gene C C A C C TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 4210 16 3306446 3306446 16 ALL diagnosis snv TP53 missense R273P NM_000546 10-PARUGP TP53 MISSENSE SNP Somatic 16 0.727 SQHIGH 33 18 51 0 46 46 COSMIC:mut:43896 Cosmic_Gene C C G C C TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 7157 17 7577120 7577120 125 ALL diagnosis snv LPHN1 silent A40A NM_001008701 10-PARUGP LPHN1 SYNONYMOUS SNP Somatic 12 0.424 SQHIGH 22 25 47 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 22859 19 14288507 14288507 79 ALL diagnosis snv ARHGAP8 missense R216W NM_001017526 10-PARUGP PRR5-ARHGAP8|ARHGAP8 MISSENSE|MISSENSE SNP Somatic -5 0.064 SQHIGH 12 24 36 0 30 30 Cosmic_Gene C C T C C TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 553158|23779 22 45221430 45221430 36 ALL diagnosis snv MAP10 missense D325G NM_019090 10-PARUIW MAP10 MISSENSE SNP Somatic -2 0.091 SQHIGH 6 18 24 0 25 25 Cosmic_Gene A A G A A TARGET-10-PARUIW-03A-01D TARGET-10-PARUIW-10A-01D 54627 1 232941743 232941743 20 ALL diagnosis snv XIRP2 silent P2703P NM_152381 10-PARUIW XIRP2 SYNONYMOUS,INTRON SNP Somatic -4 0.076 SQHIGH 8 49 57 0 52 52 Cosmic_Gene A A C A A TARGET-10-PARUIW-03A-01D TARGET-10-PARUIW-10A-01D 129446 2 168106011 168106011 24 ALL diagnosis snv ADCK1 missense R90L NM_020421 10-PARUIW ADCK1 INTRON,MISSENSE SNP Somatic -1 0.102 SQHIGH 11 29 40 0 40 40 Cosmic_Gene G G T G G TARGET-10-PARUIW-03A-01D TARGET-10-PARUIW-10A-01D 57143 14 78325468 78325468 37 ALL diagnosis snv FBN1 silent N342N NM_000138 10-PARUIW FBN1 SYNONYMOUS SNP Somatic -3 0.082 SQHIGH 7 42 49 0 30 30 Cosmic_Gene G G A G G TARGET-10-PARUIW-03A-01D TARGET-10-PARUIW-10A-01D 2200 15 48812977 48812977 15 ALL diagnosis snv CCNB3 missense Q54H NM_033670 10-PARUIW CCNB3 MISSENSE SNP Somatic 6 0.212 SQHIGH 15 29 44 0 34 34 Cosmic_Gene G G C G G TARGET-10-PARUIW-03A-01D TARGET-10-PARUIW-10A-01D 85417 X 50031845 50031845 43 ALL diagnosis snv EFNA3 missense Y146S NM_004952 10-PARVBS EFNA3 MISSENSE SNP Somatic 12 0.340 SQHIGH 22 21 43 2 46 48 A A C A A TARGET-10-PARVBS-03A-01D TARGET-10-PARVBS-10A-01D 1944 1 155057875 155057875 67 ALL diagnosis snv BAI3 missense A963V NM_001704 10-PARVBS BAI3 MISSENSE SNP Somatic PFAM:PF00002:7tm_2 20 1.000 SQHIGH 25 11 36 0 44 44 Cosmic_Gene C C T C C TARGET-10-PARVBS-03A-01D TARGET-10-PARVBS-10A-01D 577 6 70034837 70034837 118 ALL diagnosis snv SYNE1 missense G376S NM_182961 10-PARVBS SYNE1 MISSENSE SNP Somatic 20 1.000 SQHIGH 18 21 39 0 40 40 Cosmic_Gene C C T C C TARGET-10-PARVBS-03A-01D TARGET-10-PARVBS-10A-01D 23345 6 152806029 152806029 66 ALL diagnosis snv PHF2 missense R94Q NM_005392 10-PARVBS PHF2 MISSENSE SNP Somatic -33 0.002 5 35 40 0 46 46 Cosmic_Gene G G A G G TARGET-10-PARVBS-03A-01D TARGET-10-PARVBS-10A-01D 5253 9 96398789 96398789 17 ALL diagnosis snv KSR2 missense V828I NM_173598 10-PARVBS KSR2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 12 0.340 SQHIGH 44 19 63 1 48 49 Cosmic_Gene C C T C C TARGET-10-PARVBS-03A-01D TARGET-10-PARVBS-10A-01D 283455 12 117914282 117914282 142 ALL diagnosis snv TOP3A missense I545V NM_004618 10-PARVBS TOP3A MISSENSE SNP Somatic 13 0.396 SQHIGH 17 32 49 1 64 65 Cosmic_Gene T T C T T TARGET-10-PARVBS-03A-01D TARGET-10-PARVBS-10A-01D 7156 17 18188799 18188799 60 ALL diagnosis snv RALGAPA2 silent Q565Q NM_020343 10-PARVBS RALGAPA2 SYNONYMOUS SNP Somatic 17 0.801 SQHIGH 16 9 25 1 38 39 Cosmic_Gene C C T C C TARGET-10-PARVBS-03A-01D TARGET-10-PARVBS-10A-01D 57186 20 20592064 20592064 72 ALL diagnosis snv DENND4B missense S1199G NM_014856 10-PARVWD DENND4B MISSENSE SNP Somatic 13 0.483 SQHIGH 27 35 62 0 45 45 Cosmic_Gene T T C T T TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 9909 1 153905365 153905365 78 ALL diagnosis snv ERCC3 missense G130E NM_000122 10-PARVWD ERCC3 MISSENSE SNP Somatic 10 0.325 SQHIGH 22 18 40 0 50 50 Cosmic_Gene C C T C C TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 2071 2 128050268 128050268 97 ALL diagnosis snv LRP1B nonsense S4244* NM_018557 10-PARVWD LRP1B NONSENSE SNP Somatic 14 0.563 SQHIGH 8 17 25 0 22 22 Cosmic_Gene G G C G G TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 53353 2 141072578 141072578 25 ALL diagnosis snv OXTR missense V314I NM_000916 10-PARVWD OXTR MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -10 0.047 SQHIGH 6 47 53 0 40 40 C C T C C TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 5021 3 8794893 8794893 15 ALL diagnosis snv PCDHA1 missense S505L NM_018900 10-PARVWD PCDHA1 MISSENSE SNP Somatic PFAM:PF00028:Cadherin 15 0.690 SQHIGH 15 17 32 0 32 32 Cosmic_Gene C C T C C TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 56147 5 140167389 140167389 55 ALL diagnosis snv CSMD3 missense S523R NM_198123 10-PARVWD CSMD3 MISSENSE SNP Somatic -7 0.061 SQHIGH 12 13 25 1 20 21 Cosmic_Gene G G T G G TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 114788 8 113933920 113933920 29 ALL diagnosis snv VSTM4 missense V126I NM_001031746 10-PARVWD VSTM4 MISSENSE SNP dbsnp.134:rs145294709 Somatic 12 0.421 SQHIGH 20 22 42 1 38 39 Cosmic_Gene C C T C C TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 196740 10 50315720 50315720 58 ALL diagnosis snv FLT3 missense Y842C NM_004119 10-PARVWD FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 6 0.204 SQHIGH 22 38 60 1 52 53 Cosmic_Gene T T C T T TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 2322 13 28592620 28592620 59 ALL diagnosis snv SALL1 silent P82P NM_002968 10-PARVWD SALL1 SYNONYMOUS,UTR5 SNP Somatic 17 0.877 SQHIGH 35 28 63 0 46 46 Cosmic_Gene G G A G G TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 6299 16 51175887 51175887 108 ALL diagnosis snv DNAH2 missense L3741V NM_020877 10-PARVWD DNAH2 MISSENSE SNP Somatic PFAM:PF03028:Dynein_heavy 5 0.178 SQHIGH 27 51 78 1 76 77 Cosmic_Gene C C G C C TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 146754 17 7726838 7726838 80 ALL diagnosis snv PLEKHG2 splice_region E295_E9splice_region NM_022835 10-PARVWD PLEKHG2 ACCEPTOR SNP Somatic -8 0.056 SQHIGH 3 13 16 0 26 26 Cosmic_Gene G G A G G TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 64857 19 39908535 39908535 13 ALL diagnosis snv RPS16 missense V100M NM_001020 10-PARVWD RPS16 MISSENSE SNP Somatic PFAM:PF00380:Ribosomal_S9 9 0.288 SQHIGH 22 37 59 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 6217 19 39924056 39924056 66 ALL diagnosis snv NLRP8 missense V428I NM_176811 10-PARVWD NLRP8 MISSENSE SNP Somatic -8 0.056 SQHIGH 37 49 86 0 65 65 COSMIC:mut:30446 Cosmic_Gene G G A G G TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 126205 19 56466706 56466706 109 ALL diagnosis complex PRDM13 frameshift C142fs NM_021620 10-PARVWD PRDM13 FRAMESHIFT Sub Somatic -7 0.286 SQHIGH 6 28 34 0 32 32 CTG CTG CA CTG CTG TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 59336 6 100060934 100060936 18 ALL diagnosis snv ASTN1 silent N355N NM_004319 10-PARWVN MIR488|ASTN1 TSS-UPSTREAM|SYNONYMOUS SNP dbsnp.129:rs61758728 Somatic 3 0.123 SQHIGH 46 44 90 0 60 60 Cosmic_Gene G G A G G TARGET-10-PARWVN-03A-01D TARGET-10-PARWVN-10A-01D 574441|460 1 176998825 176998825 130 ALL diagnosis snv ATP13A4 missense T675M NM_032279 10-PARWVN ATP13A4 MISSENSE SNP Somatic 5 0.163 SQHIGH 16 35 51 1 53 54 Cosmic_Gene G G A G G TARGET-10-PARWVN-03A-01D TARGET-10-PARWVN-10A-01D 84239 3 193171893 193171893 46 ALL diagnosis snv DPPA5 splice G38_E1splice NM_001025290 10-PARWVN DPPA5 MISSENSE SNP Somatic -6 0.052 SQHIGH 5 14 19 0 24 24 C C T C C TARGET-10-PARWVN-03A-01D TARGET-10-PARWVN-10A-01D 340168 6 74063837 74063837 19 ALL diagnosis snv CRTAM missense T193M NM_019604 10-PARWVN CRTAM MISSENSE SNP dbsnp.134:rs147423411 Somatic PFAM:PF00047:ig 8 0.243 SQHIGH 17 31 48 0 51 51 Cosmic_Gene C C T C C TARGET-10-PARWVN-03A-01D TARGET-10-PARWVN-10A-01D 56253 11 122726490 122726490 61 ALL diagnosis snv FERMT1 missense R238Q NM_017671 10-PARWVN FERMT1 MISSENSE SNP Somatic 17 0.893 SQHIGH 13 22 35 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARWVN-03A-01D TARGET-10-PARWVN-10A-01D 55612 20 6090978 6090978 62 ALL relapse snv USP24 missense V1300M NM_015306 10-PARWVN USP24 MISSENSE SNP Somatic -5 0.054 SQHIGH 6 30 36 0 45 45 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 23358 1 55591055 55591055 22 ALL relapse snv HCN3 silent G266G NM_020897 10-PARWVN HCN3 SYNONYMOUS SNP Somatic -8 0.043 SQHIGH 7 37 44 0 43 43 Cosmic_Gene C C G C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 57657 1 155253854 155253854 22 ALL relapse snv ASTN1 silent N355N NM_004319 10-PARWVN MIR488|ASTN1 TSS-UPSTREAM|SYNONYMOUS SNP dbsnp.129:rs61758728 Somatic 7 0.212 SQHIGH 49 43 92 0 60 60 Cosmic_Gene G G A G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 574441|460 1 176998825 176998825 138 ALL relapse snv OBSCN missense V3609M NM_052843 10-PARWVN OBSCN MISSENSE SNP Somatic PFAM:PF00047:ig 6 0.187 SQHIGH 23 60 83 0 62 62 Cosmic_Gene G G A G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 84033 1 228480445 228480445 62 ALL relapse snv TTN missense R26228G NM_133378 10-PARWVN TTN|LOC100506866 MISSENSE|INTRON SNP Somatic 7 0.212 SQHIGH 23 38 61 0 60 60 Cosmic_Gene G G C G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 7273|100506866 2 179424473 179424473 79 ALL relapse snv ATP13A4 missense T675M NM_032279 10-PARWVN ATP13A4 MISSENSE SNP Somatic 4 0.137 SQHIGH 17 46 63 1 53 54 Cosmic_Gene G G A G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 84239 3 193171893 193171893 41 ALL relapse snv GALNTL6 missense P553L NM_001034845 10-PARWVN GALNTL6 MISSENSE SNP Somatic 9 0.277 SQHIGH 12 28 40 0 40 40 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 442117 4 173961103 173961103 40 ALL relapse snv MRPS30 missense R389P NM_016640 10-PARWVN MRPS30 MISSENSE SNP Somatic PFAM:PF07147:PDCD9 12 0.423 SQHIGH 15 20 35 0 37 37 G G C G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 10884 5 44815150 44815150 56 ALL relapse snv KIF4B silent R742R NM_001099293 10-PARWVN KIF4B SYNONYMOUS SNP Somatic 4 0.137 SQHIGH 29 43 72 0 73 73 Cosmic_Gene C C A C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 285643 5 154395643 154395643 104 ALL relapse snv SLC17A4 silent P279P NM_005495 10-PARWVN SLC17A4 SYNONYMOUS SNP Somatic 6 0.187 SQHIGH 19 33 52 0 49 49 Cosmic_Gene A A C A A TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 10050 6 25773752 25773752 63 ALL relapse snv BTBD9 missense A470V NM_052893 10-PARWVN BTBD9 MISSENSE SNP Somatic PFAM:PF00754:F5_F8_type_C 5 0.162 SQHIGH 16 34 50 0 63 63 G G A G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 114781 6 38256093 38256093 64 ALL relapse snv AARS2 missense R166M NM_020745 10-PARWVN AARS2 MISSENSE SNP Somatic 4 0.137 SQHIGH 27 51 78 0 83 83 Cosmic_Gene C C A C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 57505 6 44279211 44279211 97 ALL relapse snv DPPA5 splice G38_E1splice NM_001025290 10-PARWVN DPPA5 MISSENSE SNP Somatic -5 0.054 SQHIGH 9 23 32 0 24 24 C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 340168 6 74063837 74063837 24 ALL relapse snv MED27 missense G285R NM_004269 10-PARWVN MED27 MISSENSE SNP Somatic PFAM:PF11571:Med27 4 0.137 SQHIGH 14 26 40 0 65 65 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 9442 9 134736008 134736008 66 ALL relapse snv ERCC6 missense R557P NM_000124 10-PARWVN ERCC6 MISSENSE SNP Somatic PFAM:PF00176:SNF2_N 10 0.316 SQHIGH 25 34 59 0 43 43 Cosmic_Gene C C G C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 2074 10 50708599 50708599 71 ALL relapse snv ATG2A missense V77M NM_015104 10-PARWVN MIR6750 MISSENSE SNP Somatic PFAM:PF12624:Chorein_N 7 0.212 SQHIGH 22 35 57 1 51 52 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 23130 11 64681915 64681915 61 ALL relapse snv CRTAM missense T193M NM_019604 10-PARWVN CRTAM MISSENSE SNP dbsnp.134:rs147423411 Somatic PFAM:PF00047:ig 4 0.137 SQHIGH 20 41 61 0 51 51 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 56253 11 122726490 122726490 60 ALL relapse snv CDON missense E501K NM_016952 10-PARWVN CDON MISSENSE SNP Somatic 10 0.316 SQHIGH 26 26 52 1 35 36 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 50937 11 125880287 125880287 63 ALL relapse snv KRT6A missense V493I NM_005554 10-PARWVN KRT6A MISSENSE SNP Somatic 17 0.898 SQHIGH 13 12 25 0 23 23 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 3853 12 52881722 52881722 46 ALL relapse snv HTR2A missense L4V NM_000621 10-PARWVN HTR2A INTRON,MISSENSE SNP Somatic 3 0.122 SQHIGH 15 57 72 1 60 61 Cosmic_Gene G G C G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 3356 13 47470032 47470032 34 ALL relapse snv FOXN3 missense G30S NM_001085471 10-PARWVN FOXN3|LOC400236 MISSENSE|TSS-UPSTREAM SNP Somatic -5 0.054 SQHIGH 11 36 47 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 1112|400236 14 89878733 89878733 35 ALL relapse snv SPATA5L1 missense L469F NM_024063 10-PARWVN SPATA5L1 MISSENSE,UTR SNP Somatic 8 0.242 SQHIGH 18 35 53 0 39 39 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 79029 15 45702699 45702699 50 ALL relapse snv TMEM219 missense P229L NM_001083613 10-PARWVN TAOK2|TMEM219 TSS-UPSTREAM|MISSENSE SNP Somatic 0 0.089 SQHIGH 13 27 40 0 29 29 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 9344|124446 16 29982829 29982829 35 ALL relapse snv ALOX15 splice_region G514_E11splice_region NM_001140 10-PARWVN ALOX15 INTRON SNP Somatic 2 0.110 SQHIGH 31 52 83 1 63 64 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 246 17 4536149 4536149 78 ALL relapse snv SPPL2C missense R123W NM_175882 10-PARWVN IMP5|LOC100128977 MISSENSE|INTRON SNP Somatic 1 0.098 SQHIGH 12 42 54 0 43 43 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 162540|100128977 17 43922639 43922639 33 ALL relapse snv WIPI1 missense T255M NM_017983 10-PARWVN WIPI1 MISSENSE SNP Somatic PFAM:PF00400:WD40 3 0.122 SQHIGH 9 39 48 0 40 40 G G A G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 55062 17 66429645 66429645 25 ALL relapse snv RNF157 silent T139T NM_052916 10-PARWVN RNF157 SYNONYMOUS SNP Somatic 5 0.162 SQHIGH 22 47 69 1 63 64 Cosmic_Gene C C A C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 114804 17 74163758 74163758 60 ALL relapse snv MAP2K7 silent I99I NM_145185 10-PARWVN MAP2K7 SYNONYMOUS SNP Somatic 2 0.110 SQHIGH 14 40 54 0 51 51 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 5609 19 7974978 7974978 45 ALL relapse snv NACC1 missense A513P NM_052876 10-PARWVN NACC1 MISSENSE SNP Somatic 2 0.110 SQHIGH 15 31 46 0 49 49 G G C G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 112939 19 13249173 13249173 53 ALL relapse snv FERMT1 missense R238Q NM_017671 10-PARWVN FERMT1 MISSENSE SNP Somatic 6 0.187 SQHIGH 23 33 56 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 55612 20 6090978 6090978 84 ALL relapse snv ITIH6 missense T304M NM_198510 10-PARWVN ITIH6 MISSENSE SNP Somatic 6 0.187 SQHIGH 24 43 67 0 80 80 Cosmic_Gene G G A G G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 347365 X 54786353 54786353 94 ALL relapse snv NKAP silent E167E NM_024528 10-PARWVN NKAP SYNONYMOUS SNP Somatic 12 0.423 SQHIGH 7 21 28 0 35 35 Cosmic_Gene C C T C C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 79576 X 119070612 119070612 27 ALL relapse complex DDX3X frameshift T553fs NM_001356 10-PARWVN DDX3X FRAMESHIFT Sub Somatic 0 0.587 SQHIGH 21 36 57 0 55 55 Cosmic_Gene TA TA TCCC TA TA TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 1654 X 41206152 41206153 71 ALL relapse snv CC2D1B missense S163P NM_032449 10-PARXMC CC2D1B MISSENSE SNP Somatic -8 0.045 SQHIGH 8 45 53 0 68 68 Cosmic_Gene A A G A A TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 200014 1 52826212 52826212 30 ALL relapse snv ACOT11 missense A253E NM_015547 10-PARXMC ACOT11 MISSENSE SNP Somatic 14 0.517 SQHIGH 25 29 54 1 64 65 Cosmic_Gene C C A C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 26027 1 55063082 55063082 90 ALL relapse snv DDX20 missense R693H NM_007204 10-PARXMC DDX20 MISSENSE SNP Somatic 11 0.322 SQHIGH 25 42 67 1 103 104 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 11218 1 112309124 112309124 103 ALL relapse snv POGK missense A293T NM_017542 10-PARXMC POGK MISSENSE SNP Somatic PFAM:PF03221:HTH_Tnp_Tc5 -3 0.067 SQHIGH 9 57 66 0 85 85 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 57645 1 166818693 166818693 34 ALL relapse snv PTPN7 silent T441T NM_002832 10-PARXMC ARL8A|PTPN7 TSS-UPSTREAM|SYNONYMOUS,UTR SNP Somatic -7 0.049 SQHIGH 7 59 66 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 127829|5778 1 202117809 202117809 20 ALL relapse snv DPYSL5 missense M96V NM_020134 10-PARXMC DPYSL5 MISSENSE SNP Somatic 6 0.172 SQHIGH 19 38 57 0 73 73 Cosmic_Gene A A G A A TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 56896 2 27147779 27147779 77 ALL relapse snv MSH6 missense E796K NM_000179 10-PARXMC MSH6 MISSENSE SNP Somatic -5 0.057 SQHIGH 7 37 44 1 91 92 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 2956 2 48027508 48027508 28 ALL relapse snv SPEG silent D976D NM_005876 10-PARXMC SPEG SYNONYMOUS SNP Somatic PFAM:PF00047:ig -3 0.067 SQHIGH 22 25 47 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 10290 2 220331942 220331942 79 ALL relapse snv C2orf54 missense R122W NM_001085437 10-PARXMC C2orf54 TSS-UPSTREAM,MISSENSE SNP Somatic 6 0.172 SQHIGH 9 20 29 0 42 42 G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 79919 2 241835051 241835051 39 ALL relapse snv PCCB silent C517C NM_000532 10-PARXMC PCCB SYNONYMOUS SNP Somatic PFAM:PF01039:Carboxyl_trans -4 0.061 SQHIGH 5 30 35 0 54 54 T T C T T TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 5096 3 136048799 136048799 21 ALL relapse snv PRR23A missense A177T NM_001134659 10-PARXMC PRR23A MISSENSE SNP Somatic PFAM:PF10630:DUF2476 6 0.172 SQHIGH 9 27 36 0 41 41 C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 729627 3 138724582 138724582 32 ALL relapse snv MFSD10 splice M177_E4splice NM_001120 10-PARXMC C4orf10|MFSD10 TSS-UPSTREAM|DISRUPT SNP Somatic 7 0.194 SQHIGH 19 52 71 0 76 76 C C A C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 317648|10227 4 2934326 2934326 66 ALL relapse snv GSX2 silent S2S NM_133267 10-PARXMC GSX2 SYNONYMOUS SNP Somatic 0 0.089 SQHIGH 5 16 21 0 26 26 G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 170825 4 54966517 54966517 19 ALL relapse snv OTUD4 missense R370Q NM_001102653 10-PARXMC OTUD4 MISSENSE SNP Somatic 16 0.714 SQHIGH 9 15 24 0 28 28 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 54726 4 146067537 146067537 34 ALL relapse snv TKTL2 missense V121M NM_032136 10-PARXMC TKTL2 MISSENSE SNP Somatic -1 0.081 SQHIGH 10 30 40 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 84076 4 164394526 164394526 42 ALL relapse snv PCDHA4 missense D690N NM_018907 10-PARXMC PCDHA4|PCDHA1|PCDHA3|PCDHA2 MISSENSE|INTRON|INTRON|INTRON SNP dbsnp.134:rs150467607 Somatic -33 0.003 3 37 40 0 70 70 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 56144|56147|56145|56146 5 140188840 140188840 13 ALL relapse snv PCDHGA3 silent T406T NM_018916 10-PARXMC PCDHGA3|PCDHGA2|PCDHGA1 SYNONYMOUS|INTRON|INTRON SNP Somatic -10 0.039 SQHIGH 7 63 70 1 88 89 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 56112|56113|56114 5 140724818 140724818 19 ALL relapse snv PCDHGB1 silent T179T NM_018922 10-PARXMC PCDHGA3|PCDHGA4|PCDHGB1|PCDHGA2|PCDHGA1 INTRON|TSS-UPSTREAM|SYNONYMOUS|INTRON|INTRON SNP Somatic 2 0.109 SQHIGH 13 58 71 0 72 72 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 56112|56111|56104|56113|56114 5 140730364 140730364 42 ALL relapse snv STK10 missense V633M NM_005990 10-PARXMC STK10 MISSENSE SNP Somatic PFAM:PF12474:PKK 5 0.147 SQHIGH 14 43 57 0 56 56 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 6793 5 171509422 171509422 46 ALL relapse snv BMP6 missense R257H NM_001718 10-PARXMC BMP6 MISSENSE SNP dbsnp.134:rs148916269 Somatic PFAM:PF00688:TGFb_propeptide 6 0.172 SQHIGH 16 34 50 0 71 71 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 654 6 7845478 7845478 69 ALL relapse snv TAP2 missense R626W NM_001290043 10-PARXMC TAP2 MISSENSE SNP Somatic PFAM:PF00485:PRK -4 0.061 SQHIGH 8 32 40 0 40 40 G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 6891 6 32797233 32797233 26 ALL relapse snv TAP2 splice E316_E6splice NM_000544 10-PARXMC TAP2 DISRUPT SNP Somatic 1 0.098 SQHIGH 10 45 55 0 86 86 C C G C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 6891 6 32800602 32800602 43 ALL relapse snv TDRD6 nonsense R229* NM_001010870 10-PARXMC TDRD6|LOC100131283 NONSENSE|TSS-UPSTREAM SNP Somatic -2 0.074 SQHIGH 6 27 33 0 69 69 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 221400|100131283 6 46656550 46656550 31 ALL relapse snv GPR110 missense K211N NM_025048 10-PARXMC GPR110 INTRON,MISSENSE SNP Somatic 6 0.172 SQHIGH 8 37 45 2 51 53 Cosmic_Gene C C G C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 266977 6 46988212 46988212 16 ALL relapse snv IL20RA nonsense R275* NM_014432 10-PARXMC IL20RA NONSENSE SNP Somatic -4 0.061 SQHIGH 9 47 56 0 80 80 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 53832 6 137325799 137325799 36 ALL relapse snv NHSL1 missense S1592N NM_020464 10-PARXMC NHSL1 MISSENSE SNP Somatic 4 0.132 SQHIGH 13 24 38 0 41 41 C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 57224 6 138745276 138745276 48 ALL relapse snv DLL1 silent Y359Y NM_005618 10-PARXMC DLL1 SYNONYMOUS SNP dbsnp.134:rs145681739 Somatic PFAM:PF07645:EGF_CA -7 0.049 SQHIGH 7 57 64 0 76 76 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 28514 6 170594179 170594179 25 ALL relapse snv DDC-AS1 EXON E2_exon NM_001082971 10-PARXMC LOC100129427|DDC UTR|INTRON SNP Somatic -1 0.081 SQHIGH 11 48 59 0 64 64 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 100129427|1644 7 50610754 50610754 37 ALL relapse snv PPP1R9A missense A1057V NM_001166160 10-PARXMC PPP1R9A INTRON,MISSENSE SNP Somatic -3 0.067 SQHIGH 8 36 44 0 54 54 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 55607 7 94903256 94903256 29 ALL relapse snv GPR37 silent T200T NM_005302 10-PARXMC GPR37 SYNONYMOUS SNP Somatic -1 0.081 SQHIGH 7 40 47 1 70 71 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 2861 7 124404431 124404431 22 ALL relapse snv AKR1B10 silent V89V NM_020299 10-PARXMC AKR1B10 SYNONYMOUS SNP Somatic PFAM:PF00248:Aldo_ket_red 3 0.119 SQHIGH 14 56 70 0 69 69 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 57016 7 134216692 134216692 45 ALL relapse snv GATA4 silent N239N NM_002052 10-PARXMC GATA4 SYNONYMOUS SNP Somatic 9 0.247 SQHIGH 14 17 31 0 62 62 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 2626 8 11606528 11606528 77 ALL relapse snv SOX17 missense P197L NM_022454 10-PARXMC SOX17 MISSENSE SNP Somatic -6 0.053 SQHIGH 8 14 22 0 19 19 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 64321 8 55371900 55371900 25 ALL relapse snv KCNQ3 silent T842T NM_004519 10-PARXMC KCNQ3 SYNONYMOUS SNP Somatic PFAM:PF11956:KCNQC3-Ank-G_bd -29 0.005 6 94 100 0 72 72 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 3786 8 133141602 133141602 14 ALL relapse snv ADAMTSL1 missense S242G NM_052866 10-PARXMC ADAMTSL1 MISSENSE SNP Somatic -40 0.000 4 18 22 0 45 45 Cosmic_Gene A A G A A TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 92949 9 18639299 18639299 20 ALL relapse snv NCS1 missense G33D NM_014286 10-PARXMC NCS1 MISSENSE SNP Somatic -4 0.061 SQHIGH 9 46 55 0 42 42 G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 23413 9 132980119 132980119 24 ALL relapse snv LAMC3 missense E771K NM_006059 10-PARXMC LAMC3 MISSENSE SNP Somatic -10 0.039 SQHIGH 12 28 40 0 39 39 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 10319 9 133936574 133936574 40 ALL relapse snv KIAA1217 missense A887V NM_019590 10-PARXMC KIAA1217 MISSENSE SNP Somatic 11 0.322 SQHIGH 17 30 47 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 56243 10 24813455 24813455 68 ALL relapse snv GRID1 nonsense Q195* NM_017551 10-PARXMC GRID1 NONSENSE SNP Somatic PFAM:PF01094:ANF_receptor -2 0.074 SQHIGH 7 40 47 0 61 61 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 2894 10 87898719 87898719 26 ALL relapse snv WBP11 missense V212M NM_016312 10-PARXMC WBP11 MISSENSE SNP dbsnp.132:rs75979251 Somatic -1 0.081 SQHIGH 7 37 44 0 42 42 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 51729 12 14947558 14947558 21 ALL relapse snv LRRK2 missense A75T NM_198578 10-PARXMC LRRK2 MISSENSE SNP Somatic -9 0.041 SQHIGH 6 30 36 0 46 46 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 120892 12 40619428 40619428 23 ALL relapse snv CNTN1 missense P442R NM_001843 10-PARXMC CNTN1 MISSENSE SNP Somatic 1 0.098 SQHIGH 5 22 27 0 40 40 Cosmic_Gene C C G C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 1272 12 41333233 41333233 21 ALL relapse snv KRT71 silent L237L NM_033448 10-PARXMC KRT71 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament -10 0.039 SQHIGH 5 26 31 0 53 53 Cosmic_Gene G G C G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 112802 12 52943083 52943083 23 ALL relapse snv PA2G4 missense Q10L NM_006191 10-PARXMC PA2G4|LOC100653008 MISSENSE|INTRON SNP Somatic 7 0.194 SQHIGH 22 63 85 0 100 100 A A T A A TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 5036|100653008 12 56498550 56498550 82 ALL relapse snv ABCB9 missense M375V NM_019625 10-PARXMC ABCB9 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane -5 0.057 SQHIGH 10 66 76 0 94 94 T T C T T TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 23457 12 123430700 123430700 36 ALL relapse snv SPTLC2 missense R2L NM_004863 10-PARXMC SPTLC2 MISSENSE SNP Somatic -10 0.039 SQHIGH 3 11 14 0 26 26 Cosmic_Gene C C A C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 9517 14 78082918 78082918 14 ALL relapse snv SEL1L missense G389E NM_005065 10-PARXMC SEL1L MISSENSE SNP Somatic 0 0.089 SQHIGH 9 44 53 0 69 69 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 6400 14 81961444 81961444 34 ALL relapse snv SHF nonsense R374* NM_138356 10-PARXMC SHF NONSENSE SNP Somatic -7 0.049 SQHIGH 9 60 69 0 66 66 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 90525 15 45460297 45460297 27 ALL relapse snv BHLHA9 silent A12A NM_001164405 10-PARXMC BHLHA9 SYNONYMOUS SNP Somatic 12 0.373 SQHIGH 10 23 33 0 32 32 G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 727857 17 1173893 1173893 33 ALL relapse snv LOC101927911 EXON E5_exon NM_015085 10-PARXMC RAP1GAP2 INTRON SNP Somatic 7 0.194 SQHIGH 39 68 107 1 120 121 Cosmic_Gene T T G T T TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 23108 17 2866435 2866435 134 ALL relapse snv MYH13 missense R1578C NM_003802 10-PARXMC MYH13 MISSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 -7 0.049 SQHIGH 6 29 35 0 48 48 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 8735 17 10213072 10213072 24 ALL relapse snv TRIM16L missense D162V NM_001037330 10-PARXMC TRIM16L MISSENSE SNP Somatic 5 0.147 SQHIGH 20 40 60 0 58 58 A A T A A TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 147166 17 18638211 18638211 67 ALL relapse snv ZNF532 nonsense S822* NM_018181 10-PARXMC ZNF532 NONSENSE SNP Somatic -40 0.000 3 25 28 0 48 48 Cosmic_Gene C C A C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 55205 18 56601783 56601783 13 ALL relapse snv FBN3 nonsense R2206* NM_032447 10-PARXMC FBN3 NONSENSE SNP dbsnp.134:rs150404330 Somatic 11 0.322 SQHIGH 25 34 60 1 61 63 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 84467 19 8152712 8152712 80 ALL relapse snv WDR62 silent T1320T NM_001083961 10-PARXMC WDR62 SYNONYMOUS SNP Somatic 2 0.109 SQHIGH 14 37 52 0 58 58 C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 284403 19 36594690 36594690 51 ALL relapse snv PPP1R13L missense D91N NM_001142502 10-PARXMC PPP1R13L MISSENSE SNP Somatic -7 0.049 SQHIGH 7 33 40 0 40 40 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 10848 19 45900244 45900244 22 ALL relapse snv SAE1 missense L318P NM_005500 10-PARXMC SAE1 UTR3,SYNONYMOUS,MISSENSE,UTR SNP Somatic PFAM:PF00670:AdoHcyase_NAD 11 0.322 SQHIGH 15 34 49 1 61 62 Cosmic_Gene T T C T T TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 10055 19 47712420 47712420 49 ALL relapse snv SIGLECL1 missense A151V NM_173635 10-PARXMC SIGLECL1 MISSENSE SNP Somatic -2 0.074 SQHIGH 13 77 90 1 92 93 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 284369 19 51770668 51770668 33 ALL relapse snv JAG1 silent N585N NM_000214 10-PARXMC JAG1 SYNONYMOUS SNP dbsnp.134:rs142808131 Somatic -5 0.057 SQHIGH 7 46 53 0 65 65 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 182 20 10627717 10627717 25 ALL relapse snv FAM65C missense Q309K NM_080829 10-PARXMC FAM65C MISSENSE SNP Somatic 6 0.172 SQHIGH 21 37 58 0 74 74 Cosmic_Gene G G T G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 140876 20 49224945 49224945 86 ALL relapse snv MAGEB6 missense T201M NM_173523 10-PARXMC MAGEB6 MISSENSE SNP Somatic -25 0.008 7 78 85 0 75 75 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 158809 X 26212565 26212565 20 ALL relapse snv USP9X splice_region G2251_E40splice_region NM_001039590 10-PARXMC USP9X ACCEPTOR SNP Somatic -7 0.049 SQHIGH 6 40 46 0 45 45 Cosmic_Gene G G A G G TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 8239 X 41083986 41083986 19 ALL relapse snv ALAS2 missense R37H NM_000032 10-PARXMC ALAS2 MISSENSE SNP Somatic PFAM:PF09029:Preseq_ALAS 6 0.172 SQHIGH 14 41 55 0 57 57 Cosmic_Gene C C T C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 212 X 55052324 55052324 47 ALL relapse snv RBMXL3 missense P957H NM_001145346 10-PARXMC LRCH2|RBMXL3 INTRON|MISSENSE SNP Somatic 11 0.322 SQHIGH 15 32 47 0 46 46 Cosmic_Gene C C A C C TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 57631|139804 X 114426874 114426874 50 ALL relapse mnv UGGT2 missense S34C NM_020121 10-PARXMC UGGT2 MISSENSE Sub Somatic -6 0.274 SQHIGH 6 16 22 0 34 34 Cosmic_Gene CG CG AC CG CG TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 55757 13 96705465 96705466 26 ALL diagnosis snv ACOT11 missense A253E NM_015547 10-PARXMC ACOT11 MISSENSE SNP Somatic 11 0.323 SQHIGH 26 39 65 1 64 65 Cosmic_Gene C C A C C TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 26027 1 55063082 55063082 80 ALL diagnosis snv DDX20 missense R693H NM_007204 10-PARXMC DDX20 MISSENSE SNP Somatic 15 0.646 SQHIGH 36 39 75 1 103 104 Cosmic_Gene G G A G G TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 11218 1 112309124 112309124 149 ALL diagnosis snv DPYSL5 missense M96V NM_020134 10-PARXMC DPYSL5 MISSENSE SNP Somatic 5 0.148 SQHIGH 26 55 81 0 73 73 Cosmic_Gene A A G A A TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 56896 2 27147779 27147779 82 ALL diagnosis snv SPEG silent D976D NM_005876 10-PARXMC SPEG SYNONYMOUS SNP Somatic PFAM:PF00047:ig -3 0.069 SQHIGH 14 30 44 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 10290 2 220331942 220331942 49 ALL diagnosis snv C2orf54 missense R122W NM_001085437 10-PARXMC C2orf54 TSS-UPSTREAM,MISSENSE SNP Somatic 6 0.173 SQHIGH 13 23 36 0 42 42 G G A G G TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 79919 2 241835051 241835051 50 ALL diagnosis snv PARP9 missense E293G NM_031458 10-PARXMC PARP9 MISSENSE SNP Somatic 6 0.173 SQHIGH 21 44 65 0 77 77 Cosmic_Gene T T C T T TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 83666 3 122274245 122274245 80 ALL diagnosis snv MFSD10 splice M177_E4splice NM_001120 10-PARXMC C4orf10|MFSD10 TSS-UPSTREAM|DISRUPT SNP Somatic 15 0.646 SQHIGH 11 27 38 0 76 76 C C A C C TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 317648|10227 4 2934326 2934326 57 ALL diagnosis snv BMP6 missense R257H NM_001718 10-PARXMC BMP6 MISSENSE SNP dbsnp.134:rs148916269 Somatic PFAM:PF00688:TGFb_propeptide 11 0.323 SQHIGH 24 34 58 0 71 71 Cosmic_Gene G G A G G TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 654 6 7845478 7845478 98 ALL diagnosis snv NHSL1 missense S1592N NM_020464 10-PARXMC NHSL1 MISSENSE SNP Somatic 15 0.646 SQHIGH 20 23 44 0 41 41 C C T C C TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 57224 6 138745276 138745276 70 ALL diagnosis snv GATA4 silent N239N NM_002052 10-PARXMC GATA4 SYNONYMOUS SNP Somatic 9 0.247 SQHIGH 27 13 40 0 62 62 Cosmic_Gene C C T C C TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 2626 8 11606528 11606528 145 ALL diagnosis snv LAMC3 missense E771K NM_006059 10-PARXMC LAMC3 MISSENSE SNP Somatic -10 0.040 SQHIGH 22 30 52 0 39 39 Cosmic_Gene G G A G G TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 10319 9 133936574 133936574 64 ALL diagnosis snv KIAA1217 missense A887V NM_019590 10-PARXMC KIAA1217 MISSENSE SNP Somatic 12 0.374 SQHIGH 22 29 51 0 58 58 Cosmic_Gene C C T C C TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 56243 10 24813455 24813455 86 ALL diagnosis snv KRT71 silent L237L NM_033448 10-PARXMC KRT71 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament 7 0.194 SQHIGH 8 30 38 0 53 53 Cosmic_Gene G G C G G TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 112802 12 52943083 52943083 32 ALL diagnosis snv PA2G4 missense Q10L NM_006191 10-PARXMC PA2G4|LOC100653008 MISSENSE|INTRON SNP Somatic 11 0.323 SQHIGH 36 49 85 0 100 100 A A T A A TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 5036|100653008 12 56498550 56498550 144 ALL diagnosis snv RNF151 missense C142G NM_174903 10-PARXMC RPS2|TBL3|RNF151 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE SNP Somatic -10 0.040 SQHIGH 5 14 19 1 33 34 T T G T T TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 6187|10607|146310 16 2018612 2018612 17 ALL diagnosis snv BHLHA9 silent A12A NM_001164405 10-PARXMC BHLHA9 SYNONYMOUS SNP Somatic 14 0.519 SQHIGH 15 21 36 0 32 32 G G A G G TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 727857 17 1173893 1173893 49 ALL diagnosis snv LOC101927911 EXON E5_exon NM_015085 10-PARXMC RAP1GAP2 INTRON SNP Somatic 8 0.218 SQHIGH 46 70 116 1 120 121 Cosmic_Gene T T G T T TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 23108 17 2866435 2866435 153 ALL diagnosis snv TRIM16L missense D162V NM_001037330 10-PARXMC TRIM16L MISSENSE SNP Somatic 12 0.374 SQHIGH 23 34 57 0 58 58 A A T A A TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 147166 17 18638211 18638211 82 ALL diagnosis snv FBN3 nonsense R2206* NM_032447 10-PARXMC FBN3 NONSENSE SNP dbsnp.134:rs150404330 Somatic 6 0.173 SQHIGH 19 50 69 1 61 63 Cosmic_Gene G G A G G TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 84467 19 8152712 8152712 48 ALL diagnosis snv SAE1 missense L318P NM_005500 10-PARXMC SAE1 UTR3,SYNONYMOUS,MISSENSE,UTR SNP Somatic PFAM:PF00670:AdoHcyase_NAD 15 0.646 SQHIGH 37 42 79 1 61 62 Cosmic_Gene T T C T T TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 10055 19 47712420 47712420 101 ALL diagnosis snv FAM65C missense Q309K NM_080829 10-PARXMC FAM65C MISSENSE SNP Somatic 4 0.133 SQHIGH 20 37 57 0 74 74 Cosmic_Gene G G T G G TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 140876 20 49224945 49224945 82 ALL diagnosis snv DNAL4 splice_region E51_E3splice_region NM_005740 10-PARXMC DNAL4 INTRON SNP Somatic -3 0.069 SQHIGH 5 32 37 0 50 50 T T C T T TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 10126 22 39176922 39176922 19 ALL diagnosis snv RBMXL3 missense P957H NM_001145346 10-PARXMC LRCH2|RBMXL3 INTRON|MISSENSE SNP Somatic 9 0.247 SQHIGH 24 28 52 0 45 45 Cosmic_Gene C C A C C TARGET-10-PARXMC-09A-01D TARGET-10-PARXMC-14A-01D 57631|139804 X 114426874 114426874 79 ALL diagnosis snv DSPP missense N559S NM_014208 10-PASCIU DSPP MISSENSE SNP Somatic -2 0.106 SQHIGH 5 13 18 0 16 16 Cosmic_Gene A A G A A TARGET-10-PASCIU-03A-01D TARGET-10-PASCIU-10A-01D 1834 4 88535490 88535490 15 ALL diagnosis snv ADAMTS16 silent R663R NM_139056 10-PASCIU ADAMTS16 SYNONYMOUS SNP Somatic -4 0.089 SQHIGH 13 9 22 0 16 16 Cosmic_Gene C C A C C TARGET-10-PASCIU-03A-01D TARGET-10-PASCIU-10A-01D 170690 5 5235263 5235263 40 ALL diagnosis snv TNC missense T1641K NM_002160 10-PASCIU TNC MISSENSE SNP Somatic PFAM:PF00041:fn3 14 0.570 SQHIGH 8 19 27 1 39 40 Cosmic_Gene G G T G G TARGET-10-PASCIU-03A-01D TARGET-10-PASCIU-10A-01D 3371 9 117808892 117808892 27 ALL diagnosis snv KIAA1551 silent D1123D NM_018169 10-PASCIU KIAA1551 SYNONYMOUS SNP Somatic 16 0.720 SQHIGH 19 28 47 1 58 59 Cosmic_Gene T T C T T TARGET-10-PASCIU-03A-01D TARGET-10-PASCIU-10A-01D 55196 12 32137258 32137258 67 ALL diagnosis snv LOC100130238 EXON E2_exon NM_001122636 10-PASCIU LOC100130238|GALNT9 UTR|INTRON SNP Somatic 14 0.570 SQHIGH 22 12 34 0 33 33 G G A G G TARGET-10-PASCIU-03A-01D TARGET-10-PASCIU-10A-01D 100130238|50614 12 132852400 132852400 87 ALL diagnosis snv ADORA2A-AS1 EXON E1_exon NM_000675 10-PASCIU C22orf45|ADORA2A UTR|INTRON SNP Somatic 4 0.182 SQHIGH 7 18 25 0 35 35 C C T C C TARGET-10-PASCIU-03A-01D TARGET-10-PASCIU-10A-01D 646023|135 22 24825820 24825820 29 ALL diagnosis snv NRAS missense G12D NM_002524 10-PASDYK NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 18 0.868 SQHIGH 13 17 30 0 36 36 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 4893 1 115258747 115258747 52 ALL diagnosis snv SCN5A missense T1645M NM_198056 10-PASDYK SCN5A MISSENSE SNP Somatic PFAM:PF00520:Ion_trans PFAM:PF08016:PKD_channel -1 0.111 SQHIGH 24 18 42 1 47 48 Cosmic_Gene G G A G G TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 6331 3 38592929 38592929 88 ALL diagnosis snv LOC101928314 EXON E5_exon NM_001034845 10-PASDYK GALNTL6 INTRON SNP Somatic 2 0.148 SQHIGH 26 12 38 0 16 16 Cosmic_Gene T T C T T TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 442117 4 173551332 173551332 58 ALL diagnosis snv AGBL3 silent F50F NM_178563 10-PASDYK AGBL3 SYNONYMOUS SNP Somatic -4 0.083 SQHIGH 6 26 32 0 31 31 C C T C C TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 340351 7 134678269 134678269 19 ALL diagnosis snv CBL missense A757T NM_005188 10-PASDYK CBL MISSENSE SNP dbsnp.134:rs146517083 Somatic 18 0.868 SQHIGH 16 12 28 1 33 34 Cosmic_Gene G G A G G TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 867 11 119169085 119169085 58 ALL diagnosis snv CHD4 missense V362G NM_001273 10-PASDYK CHD4 MISSENSE SNP Somatic -9 0.055 SQHIGH 3 9 12 0 20 20 Cosmic_Gene A A C A A TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 1108 12 6709540 6709540 14 ALL diagnosis snv MIR4699 EXON E7_exon NM_024560 10-PASDYK ACSS3|MIR4699 INTRON|UTR SNP Somatic 18 0.868 SQHIGH 18 18 36 0 50 50 Cosmic_Gene C C T C C TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 79611|100616133 12 81552233 81552233 82 ALL diagnosis snv CREBBP missense R1446C NM_004380 10-PASDYK CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 17 0.806 SQHIGH 37 9 46 0 44 44 COSMIC:mut:88749 Cosmic_Gene G G A G G TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 1387 16 3788618 3788618 164 ALL diagnosis snv CACNG3 missense A138T NM_006539 10-PASDYK CACNG3 MISSENSE SNP Somatic PFAM:PF00822:PMP22_Claudin -35 0.002 3 10 13 0 26 26 G G A G G TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 10368 16 24366270 24366270 15 ALL diagnosis snv PPP4C missense D54N NM_002720 10-PASDYK PPP4C MISSENSE SNP Somatic 5 0.199 SQHIGH 26 13 39 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 5531 16 30093814 30093814 110 ALL diagnosis snv TTLL6 missense R193H NM_001130918 10-PASDYK TTLL6 MISSENSE SNP Somatic PFAM:PF03133:TTL -10 0.051 SQHIGH 19 19 38 0 31 31 C C T C C TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 284076 17 46878650 46878650 61 ALL diagnosis snv GRIN3B missense T661M NM_138690 10-PASDYK GRIN3B MISSENSE SNP Somatic PFAM:PF00060:Lig_chan 4 0.180 SQHIGH 8 8 16 0 13 13 C C T C C TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 116444 19 1005482 1005482 25 ALL diagnosis snv ICOSLG silent V268V NM_015259 10-PASDYK ICOSLG SYNONYMOUS SNP Somatic -5 0.076 SQHIGH 6 40 46 0 28 28 G G A G G TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 23308 21 45651221 45651221 13 ALL diagnosis snv EP300 missense S1757C NM_001429 10-PASDYK EP300 MISSENSE SNP Somatic PFAM:PF02135:zf-TAZ -7 0.065 SQHIGH 5 44 49 0 42 42 Cosmic_Gene C C G C C TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 2033 22 41572985 41572985 14 ALL diagnosis snv MROH7 silent D632D NM_001039464 10-PASEVJ HEATR8|HEATR8-TTC4 SYNONYMOUS,UTR|UTR SNP Somatic 17 0.890 SQHIGH 24 24 48 0 66 66 Cosmic_Gene C C T C C TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 374977|100527960 1 55139784 55139784 109 ALL diagnosis snv KCNH1 missense V615I NM_172362 10-PASEVJ KCNH1 MISSENSE SNP Somatic 15 0.679 SQHIGH 26 29 55 0 61 61 Cosmic_Gene C C T C C TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 3756 1 210970922 210970922 102 ALL diagnosis snv HNRNPU missense K619N NM_031844 10-PASEVJ HNRNPU MISSENSE SNP Somatic PFAM:PF00485:PRK 15 0.679 SQHIGH 29 35 64 0 44 44 C C A C C TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 3192 1 245019814 245019814 81 ALL diagnosis snv CSRNP3 missense R118Q NM_001172173 10-PASEVJ CSRNP3 MISSENSE SNP Somatic 16 0.749 SQHIGH 23 26 49 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 80034 2 166514475 166514475 69 ALL diagnosis snv SPEG missense R223Q NM_005876 10-PASEVJ SPEG MISSENSE SNP Somatic 16 0.749 SQHIGH 37 29 66 2 61 63 Cosmic_Gene G G A G G TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 10290 2 220309736 220309736 113 ALL diagnosis snv MAP3K4 missense G1366R NM_005922 10-PASEVJ MAP3K4 MISSENSE SNP Somatic 16 0.749 SQHIGH 22 20 42 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 4216 6 161528978 161528978 69 ALL diagnosis snv ZNF462 silent P545P NM_021224 10-PASEVJ ZNF462 SYNONYMOUS SNP Somatic -7 0.046 SQHIGH 4 28 32 0 45 45 Cosmic_Gene A A G A A TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 58499 9 109687828 109687828 16 ALL diagnosis snv ZNF462 silent P546P NM_021224 10-PASEVJ ZNF462 SYNONYMOUS SNP Somatic 0 0.084 SQHIGH 4 26 30 0 43 43 Cosmic_Gene A A G A A TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 58499 9 109687831 109687831 16 ALL diagnosis snv TIMM10B missense P34S NM_012192 10-PASEVJ FXC1|ARFIP2 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF02953:zf-Tim10_DDP 13 0.461 SQHIGH 19 27 46 0 59 59 C C T C C TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 26515|23647 11 6503047 6503047 79 ALL diagnosis snv COQ10A missense G28A NM_144576 10-PASEVJ COQ10A TSS-UPSTREAM,MISSENSE SNP Somatic -8 0.042 SQHIGH 6 23 29 0 29 29 Cosmic_Gene G G C G G TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 93058 12 56660985 56660985 19 ALL diagnosis snv UNC13C silent D168D NM_001080534 10-PASEVJ UNC13C SYNONYMOUS SNP Somatic 19 0.959 SQHIGH 11 12 23 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 440279 15 54305604 54305604 57 ALL diagnosis snv LOC101928266 EXON E3_exon NM_004822 10-PASEVJ NTN1 INTRON SNP Somatic 15 0.679 SQHIGH 31 38 69 0 48 48 C C T C C TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 9423 17 9080989 9080989 87 ALL diagnosis snv FCHO1 nonsense Y182* NM_001161357 10-PASEVJ FCHO1 NONSENSE SNP Somatic PFAM:PF03114:BAR 10 0.296 SQHIGH 26 37 63 0 64 64 Cosmic_Gene C C G C C TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 23149 19 17881657 17881657 93 ALL diagnosis snv NINL silent N365N NM_025176 10-PASEVJ NINL SYNONYMOUS SNP Somatic 15 0.679 SQHIGH 28 30 58 0 59 59 Cosmic_Gene G G A G G TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 22981 20 25478920 25478920 104 ALL diagnosis snv CRLF2 missense F232C NM_022148 10-PASEVJ CRLF2 MISSENSE SNP Somatic 2 0.103 SQHIGH 34 23 57 0 42 42 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 64109 X 1314966 1314966 109 ALL diagnosis snv PCDH11X missense V1007I NM_001168360 10-PASEVJ PCDH11X MISSENSE SNP Somatic 11 0.342 SQHIGH 26 24 50 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASEVJ-09A-01D TARGET-10-PASEVJ-10A-01D 27328 X 91134258 91134258 98 ALL relapse snv VAMP3 splice K77_E3splice NM_004781 10-PASEVJ VAMP3 DISRUPT SNP Somatic 7 0.203 SQHIGH 34 49 83 0 92 92 G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 9341 1 7837379 7837379 130 ALL relapse snv ZNF691 silent S2S NM_001242739 10-PASEVJ ZNF691 SYNONYMOUS,INTRON SNP Somatic -4 0.062 SQHIGH 8 39 47 0 34 34 Cosmic_Gene A A C A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 51058 1 43315335 43315335 20 ALL relapse snv MROH7 silent D632D NM_001039464 10-PASEVJ HEATR8|HEATR8-TTC4 SYNONYMOUS,UTR|UTR SNP Somatic 15 0.679 SQHIGH 37 40 77 0 66 66 Cosmic_Gene C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 374977|100527960 1 55139784 55139784 123 ALL relapse snv RASAL2 missense T849R NM_004841 10-PASEVJ RASAL2 MISSENSE SNP Somatic PFAM:PF12004:DUF3498 11 0.348 SQHIGH 31 47 78 1 57 58 Cosmic_Gene C C G C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 9462 1 178427396 178427396 76 ALL relapse snv KCNH1 missense V615I NM_172362 10-PASEVJ KCNH1 MISSENSE SNP Somatic 4 0.134 SQHIGH 27 48 75 0 61 61 Cosmic_Gene C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 3756 1 210970922 210970922 81 ALL relapse snv HNRNPU missense K619N NM_031844 10-PASEVJ HNRNPU MISSENSE SNP Somatic PFAM:PF00485:PRK 14 0.549 SQHIGH 26 29 55 0 44 44 C C A C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 3192 1 245019814 245019814 82 ALL relapse snv CSRNP3 missense R118Q NM_001172173 10-PASEVJ CSRNP3 MISSENSE SNP Somatic 18 0.913 SQHIGH 23 15 38 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 80034 2 166514475 166514475 89 ALL relapse snv MYO1B missense R59W NM_001130158 10-PASEVJ MYO1B MISSENSE SNP Somatic -9 0.042 SQHIGH 10 17 27 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 4430 2 192160876 192160876 35 ALL relapse snv SPEG missense R223Q NM_005876 10-PASEVJ SPEG MISSENSE SNP Somatic 10 0.302 SQHIGH 37 39 76 2 61 63 Cosmic_Gene G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 10290 2 220309736 220309736 96 ALL relapse snv SDAD1 missense F335L NM_018115 10-PASEVJ SDAD1 MISSENSE SNP Somatic 9 0.264 SQHIGH 21 29 50 0 58 58 Cosmic_Gene A A G A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 55153 4 76888472 76888472 83 ALL relapse snv C5orf42 missense R1545H NM_023073 10-PASEVJ C5orf42 MISSENSE SNP Somatic 9 0.264 SQHIGH 11 24 35 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 65250 5 37183649 37183649 44 ALL relapse snv C5orf42 missense I1538T NM_023073 10-PASEVJ C5orf42 MISSENSE SNP Somatic 3 0.120 SQHIGH 19 37 56 0 45 45 Cosmic_Gene A A G A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 65250 5 37183670 37183670 56 ALL relapse snv CTD-2201I18.1 EXON E10_exon NM_003248 10-PASEVJ THBS4 INTRON SNP Somatic 9 0.264 SQHIGH 25 36 61 1 65 66 A A G A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 7060 5 79364422 79364422 81 ALL relapse snv ADAMTS19 splice_region Q762_E14splice_region NM_133638 10-PASEVJ ADAMTS19 INTRON SNP Somatic 5 0.150 SQHIGH 7 14 21 0 34 34 Cosmic_Gene A A G A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 171019 5 128990134 128990134 32 ALL relapse snv PCDHA9 silent A658A NM_031857 10-PASEVJ PCDHA4|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA3|PCDHA2 INTRON|INTRON|SYNONYMOUS|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic -1 0.081 SQHIGH 17 19 36 0 13 13 Cosmic_Gene G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 56144|56147|9752|56143|56140|56142|56141|56145|56146 5 140230054 140230054 29 ALL relapse snv DNAH11 silent R208R NM_001277115 10-PASEVJ DNAH11 SYNONYMOUS SNP Somatic -1 0.081 SQHIGH 31 28 59 1 43 44 Cosmic_Gene A A C A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 8701 7 21598546 21598546 83 ALL relapse snv PCLO silent A4610A NM_033026 10-PASEVJ PCLO SYNONYMOUS SNP Somatic -10 0.039 SQHIGH 4 14 18 0 22 22 Cosmic_Gene A A G A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 27445 7 82475884 82475884 15 ALL relapse snv TRRAP splice N1491K NM_003496 10-PASEVJ TRRAP MISSENSE SNP Somatic 17 0.883 SQHIGH 20 21 41 1 57 58 Cosmic_Gene C C A C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 8295 7 98540640 98540640 80 ALL relapse snv FOCAD nonsense R195* NM_017794 10-PASEVJ FOCAD NONSENSE SNP Somatic PFAM:PF12530:DUF3730 -3 0.067 SQHIGH 8 19 27 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 54914 9 20764956 20764956 28 ALL relapse snv GTPBP4 missense V193M NM_012341 10-PASEVJ GTPBP4 MISSENSE SNP Somatic PFAM:PF02263:GBP 14 0.549 SQHIGH 29 40 69 1 57 58 Cosmic_Gene G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 23560 10 1044958 1044958 79 ALL relapse snv NT5C2 missense R367Q NM_012229 10-PASEVJ NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase -25 0.009 4 52 56 0 59 59 C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 22978 10 104852955 104852955 13 ALL relapse snv NT5C2 missense R39Q NM_012229 10-PASEVJ NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 2 0.108 SQHIGH 5 9 14 0 19 19 C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 22978 10 104899222 104899222 21 ALL relapse snv TIMM10B missense P34S NM_012192 10-PASEVJ FXC1|ARFIP2 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF02953:zf-Tim10_DDP 15 0.679 SQHIGH 21 28 49 0 59 59 C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 26515|23647 11 6503047 6503047 85 ALL relapse snv LOC100506258 EXON E6_exon NM_175733 10-PASEVJ LOC100506258|SYT9 UTR|INTRON SNP Somatic 13 0.466 SQHIGH 28 34 62 0 68 68 Cosmic_Gene G G C G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 100506258|143425 11 7459226 7459226 108 ALL relapse snv ETV6 missense D372G NM_001987 10-PASEVJ ETV6 MISSENSE SNP Somatic PFAM:PF00178:Ets 5 0.150 SQHIGH 31 40 71 0 73 73 Cosmic_Gene A A G A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 2120 12 12037484 12037484 114 ALL relapse snv PIK3C2G missense R1142H NM_004570 10-PASEVJ PIK3C2G MISSENSE SNP Somatic 9 0.264 SQHIGH 23 30 53 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 5288 12 18699324 18699324 71 ALL relapse snv MYO16 silent D66D NM_015011 10-PASEVJ MYO16 SYNONYMOUS SNP Somatic 16 0.748 SQHIGH 20 19 39 0 53 53 Cosmic_Gene C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 23026 13 109318469 109318469 91 ALL relapse snv PAK6 silent A183A NM_020168 10-PASEVJ PAK6 SYNONYMOUS SNP dbsnp.134:rs139289845 Somatic 7 0.203 SQHIGH 27 31 58 0 54 54 Cosmic_Gene C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 56924 15 40558387 40558387 94 ALL relapse snv UNC13C silent D168D NM_001080534 10-PASEVJ UNC13C SYNONYMOUS SNP Somatic 7 0.203 SQHIGH 20 34 54 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 440279 15 54305604 54305604 57 ALL relapse snv HAPLN3 silent L308L NM_178232 10-PASEVJ HAPLN3 SYNONYMOUS SNP Somatic 10 0.302 SQHIGH 30 36 66 0 59 59 G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 145864 15 89421362 89421362 101 ALL relapse snv LOC101928266 EXON E3_exon NM_004822 10-PASEVJ NTN1 INTRON SNP Somatic 14 0.549 SQHIGH 34 20 54 0 48 48 C C T C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 9423 17 9080989 9080989 126 ALL relapse snv COX10 missense G315E NM_001303 10-PASEVJ COX10 MISSENSE SNP Somatic PFAM:PF01040:UbiA 13 0.466 SQHIGH 34 38 72 0 64 64 G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 1352 17 14110142 14110142 115 ALL relapse snv ARID3A missense E91A NM_005224 10-PASEVJ ARID3A MISSENSE SNP Somatic -7 0.050 SQHIGH 7 10 17 0 23 23 A A C A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 1820 19 929800 929800 30 ALL relapse snv ONECUT3 missense Q341R NM_001080488 10-PASEVJ ONECUT3 MISSENSE SNP Somatic PFAM:PF02376:CUT -3 0.067 SQHIGH 5 12 17 0 14 14 A A G A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 390874 19 1754683 1754683 14 ALL relapse snv FCHO1 nonsense Y182* NM_001161357 10-PASEVJ FCHO1 NONSENSE SNP Somatic PFAM:PF03114:BAR 15 0.679 SQHIGH 42 44 86 0 64 64 Cosmic_Gene C C G C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 23149 19 17881657 17881657 127 ALL relapse snv CEACAM20 missense R130P NM_001102599 10-PASEVJ CEACAM20 MISSENSE SNP Somatic PFAM:PF00047:ig 12 0.403 SQHIGH 39 38 77 1 85 86 Cosmic_Gene C C G C C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 125931 19 45028102 45028102 142 ALL relapse snv NINL silent N365N NM_025176 10-PASEVJ NINL SYNONYMOUS SNP Somatic 15 0.679 SQHIGH 38 35 73 0 59 59 Cosmic_Gene G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 22981 20 25478920 25478920 124 ALL relapse snv SLC35E4 silent A152A NM_001001479 10-PASEVJ SLC35E4 SYNONYMOUS SNP Somatic -5 0.057 SQHIGH 12 18 30 0 18 18 G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 339665 22 31032893 31032893 29 ALL relapse snv CRLF2 missense F232C NM_022148 10-PASEVJ CRLF2 MISSENSE SNP Somatic 1 0.098 SQHIGH 22 29 51 0 42 42 COSMIC:mut:41268 Cosmic_Gene A A C A A TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 64109 X 1314966 1314966 69 ALL relapse snv PCDH11X missense V1007I NM_001168360 10-PASEVJ PCDH11X MISSENSE SNP Somatic 11 0.348 SQHIGH 25 33 58 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 27328 X 91134258 91134258 81 ALL relapse complex HDGFL1 frameshift G21_A23fs NM_138574 10-PASEVJ HDGFL1 FRAMESHIFT Sub Somatic -7 0.262 SQHIGH 27 49 76 0 68 68 GGCTATG GGCTATG GA GGCTATG GGCTATG TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 154150 6 22569865 22569871 87 ALL diagnosis snv RYR2 missense L814F NM_001035 10-PASFTL RYR2 MISSENSE SNP Somatic 5 0.164 SQHIGH 9 27 36 0 56 56 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 6262 1 237666632 237666632 40 ALL diagnosis snv DYSF silent T1159T NM_001130987 10-PASFTL DYSF SYNONYMOUS SNP Somatic 6 0.194 SQHIGH 17 44 61 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 8291 2 71816797 71816797 49 ALL diagnosis snv NCKAP1 missense M890I NM_013436 10-PASFTL NCKAP1 MISSENSE SNP Somatic PFAM:PF09735:Nckap1 11 0.339 SQHIGH 13 20 33 1 38 39 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 10787 2 183806823 183806823 41 ALL diagnosis snv SORCS2 silent K268K NM_020777 10-PASFTL SORCS2 SYNONYMOUS SNP Somatic 3 0.133 SQHIGH 14 56 70 0 87 87 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 57537 4 7640210 7640210 53 ALL diagnosis snv PCDH7 missense P1107Q NM_001173523 10-PASFTL PCDH7 MISSENSE SNP Somatic 3 0.133 SQHIGH 8 32 40 0 36 36 Cosmic_Gene C C A C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 5099 4 30921920 30921920 24 ALL diagnosis snv PDE4D missense S190F NM_001104631 10-PASFTL PDE4D MISSENSE SNP Somatic 11 0.339 SQHIGH 9 29 38 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 5144 5 58511681 58511681 30 ALL diagnosis snv TBC1D32 missense R843C NM_152730 10-PASFTL TBC1D32 MISSENSE SNP Somatic 16 0.671 SQHIGH 17 20 37 0 27 27 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 221322 6 121526264 121526264 49 ALL diagnosis snv MYB missense D75N NM_001130173 10-PASFTL MYB MISSENSE SNP Somatic 6 0.194 SQHIGH 21 24 45 1 43 44 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 4602 6 135510938 135510938 64 ALL diagnosis snv IGF2R splice_region G1136_E25splice_region NM_000876 10-PASFTL IGF2R ACCEPTOR SNP Somatic 10 0.302 SQHIGH 10 36 46 0 54 54 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 3482 6 160482781 160482781 36 ALL diagnosis snv PKD1L1 missense A1389V NM_138295 10-PASFTL PKD1L1 MISSENSE SNP Somatic -4 0.066 SQHIGH 16 21 37 1 40 41 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 168507 7 47898467 47898467 51 ALL diagnosis snv CADPS2 missense G608E NM_017954 10-PASFTL CADPS2 MISSENSE SNP Somatic 6 0.194 SQHIGH 12 21 33 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 93664 7 122130164 122130164 46 ALL diagnosis snv GRM8 missense R470H NM_000845 10-PASFTL GRM8 MISSENSE,UTR SNP dbsnp.134:rs148874550 Somatic PFAM:PF01094:ANF_receptor 0 0.098 SQHIGH 7 17 24 0 27 27 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 2918 7 126249501 126249501 25 ALL diagnosis snv TNKS splice_region T944_E18splice_region NM_003747 10-PASFTL TNKS INTRON SNP Somatic 7 0.218 SQHIGH 9 34 43 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 8658 8 9605732 9605732 23 ALL diagnosis snv DLC1 missense E862K NM_182643 10-PASFTL DLC1 MISSENSE SNP Somatic -5 0.061 SQHIGH 8 57 65 0 60 60 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 10395 8 12957262 12957262 24 ALL diagnosis snv DOCK5 silent F1193F NM_024940 10-PASFTL DOCK5 SYNONYMOUS SNP Somatic 15 0.590 SQHIGH 13 14 27 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 80005 8 25230129 25230129 52 ALL diagnosis snv CSMD3 silent G520G NM_198123 10-PASFTL CSMD3 SYNONYMOUS SNP Somatic -6 0.057 SQHIGH 13 30 43 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 114788 8 113933929 113933929 40 ALL diagnosis snv MPDZ missense L900R NM_003829 10-PASFTL MPDZ MISSENSE SNP Somatic 1 0.108 SQHIGH 10 38 48 0 36 36 Cosmic_Gene A A C A A TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 8777 9 13176367 13176367 26 ALL diagnosis snv NFKB2 missense D256E NM_001077494 10-PASFTL NFKB2 MISSENSE SNP Somatic 11 0.339 SQHIGH 16 29 45 0 54 54 Cosmic_Gene T T G T T TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 4791 10 104157970 104157970 62 ALL diagnosis snv TACC2 missense E1704K NM_206862 10-PASFTL TACC2 INTRON,MISSENSE SNP Somatic 0 0.098 SQHIGH 5 16 21 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 10579 10 123847125 123847125 21 ALL diagnosis snv TCERG1L-AS1 EXON E11_exon NM_174937 10-PASFTL TCERG1L INTRON SNP Somatic 10 0.302 SQHIGH 9 22 31 1 39 40 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 256536 10 132893558 132893558 27 ALL diagnosis snv SCUBE2 nonsense C703* NM_020974 10-PASFTL SCUBE2 NONSENSE SNP Somatic PFAM:PF07699:GCC2_GCC3 6 0.194 SQHIGH 20 30 50 0 43 43 Cosmic_Gene A A T A A TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 57758 11 9052366 9052366 64 ALL diagnosis snv SLCO1C1 missense I174L NM_001145946 10-PASFTL SLCO1C1 MISSENSE SNP Somatic PFAM:PF03137:OATP 12 0.388 SQHIGH 17 31 48 0 41 41 Cosmic_Gene A A T A A TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 53919 12 20864435 20864435 53 ALL diagnosis snv PPFIA2 missense R1115C NM_003625 10-PASFTL PPFIA2 MISSENSE,UTR SNP Somatic -7 0.052 SQHIGH 5 17 22 1 36 37 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 8499 12 81661834 81661834 16 ALL diagnosis snv ANO4 splice_region R822_E24splice_region NM_178826 10-PASFTL ANO4 INTRON SNP Somatic 4 0.147 SQHIGH 9 23 32 1 29 30 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 121601 12 101510586 101510586 21 ALL diagnosis snv CUX2 silent F408F NM_015267 10-PASFTL CUX2 SYNONYMOUS SNP Somatic 12 0.388 SQHIGH 9 20 29 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 23316 12 111746296 111746296 44 ALL diagnosis snv BRAP silent L515L NM_006768 10-PASFTL BRAP SYNONYMOUS SNP Somatic PFAM:PF02706:Wzz 10 0.302 SQHIGH 22 28 50 0 50 50 Cosmic_Gene C C A C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 8315 12 112082237 112082237 79 ALL diagnosis snv NALCN missense D1277N NM_052867 10-PASFTL NALCN MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 12 0.388 SQHIGH 9 17 26 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 259232 13 101733934 101733934 32 ALL diagnosis snv CMA1 missense R168K NM_001836 10-PASFTL CMA1 MISSENSE SNP Somatic 8 0.242 SQHIGH 12 30 42 0 46 46 C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 1215 14 24975331 24975331 43 ALL diagnosis snv TTC7B silent L557L NM_001010854 10-PASFTL TTC7B|LOC100506832 SYNONYMOUS|INTRON SNP Somatic -2 0.079 SQHIGH 10 22 32 0 27 27 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 145567|100506832 14 91110472 91110472 30 ALL diagnosis snv BDKRB2 silent R390R NM_000623 10-PASFTL BDKRB2 SYNONYMOUS SNP Somatic 11 0.339 SQHIGH 11 25 36 1 22 23 Cosmic_Gene A A G A A TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 624 14 96707835 96707835 19 ALL diagnosis snv NPAP1 silent P106P NM_018958 10-PASFTL NPAP1 SYNONYMOUS SNP Somatic 15 0.590 SQHIGH 13 11 24 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 23742 15 24921332 24921332 62 ALL diagnosis snv ZDHHC7 missense G326D NM_001145548 10-PASFTL ZDHHC7 MISSENSE SNP Somatic -6 0.057 SQHIGH 4 28 32 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 55625 16 85010010 85010010 16 ALL diagnosis snv OR1D2 silent L115L NM_002548 10-PASFTL OR1D2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 3 0.133 SQHIGH 16 53 69 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 4991 17 2995948 2995948 45 ALL diagnosis snv CPD silent V238V NM_001304 10-PASFTL CPD SYNONYMOUS,TSS-UPSTREAM SNP Somatic -3 0.072 SQHIGH 5 33 38 0 29 29 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 1362 17 28706712 28706712 13 ALL diagnosis snv KRTAP9-1 missense T194P NM_001190460 10-PASFTL KRTAP9-1 MISSENSE SNP Somatic -5 0.061 SQHIGH 4 9 13 0 13 13 A A C A A TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 728318 17 39346718 39346718 13 ALL diagnosis snv YES1 missense A98V NM_005433 10-PASFTL YES1 MISSENSE SNP Somatic 11 0.339 SQHIGH 15 29 44 0 29 29 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 7525 18 751783 751783 38 ALL diagnosis snv OCEL1 missense P10A NM_024578 10-PASFTL OCEL1 MISSENSE SNP Somatic -10 0.041 SQHIGH 4 3 7 0 14 14 Cosmic_Gene C C G C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 79629 19 17337084 17337084 22 ALL diagnosis snv TMEM91 nonsense R169* NM_001098821 10-PASFTL TMEM91 UTR3,ACCEPTOR,INTRON,NONSENSE SNP Somatic -4 0.066 SQHIGH 7 9 16 0 33 33 C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 641649 19 41889764 41889764 39 ALL diagnosis snv CNOT3 missense N489K NM_014516 10-PASFTL CNOT3 MISSENSE SNP Somatic 13 0.442 SQHIGH 18 25 43 0 51 51 Cosmic_Gene C C A C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 4849 19 54653355 54653355 72 ALL diagnosis snv DSCAM-AS1 EXON E3_exon NM_001389 10-PASFTL DSCAM|DSCAM-AS1 INTRON|UTR SNP Somatic 2 0.120 SQHIGH 10 48 58 0 56 56 Cosmic_Gene C C T C C TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 1826|100506492 21 41756712 41756712 31 ALL diagnosis snv PLXNB2 missense I1407S NM_012401 10-PASFTL PLXNB2 MISSENSE SNP Somatic PFAM:PF08337:Plexin_cytopl 18 0.857 SQHIGH 17 22 39 0 62 62 Cosmic_Gene A A C A A TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 23654 22 50718456 50718456 82 ALL diagnosis snv KDM6A missense S296T NM_021140 10-PASFTL KDM6A MISSENSE SNP dbsnp.134:rs145284050 Somatic -7 0.052 SQHIGH 9 30 39 0 22 22 Cosmic_Gene G G C G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 7403 X 44918262 44918262 19 ALL diagnosis snv SHROOM4 silent L76L NM_020717 10-PASFTL SHROOM4 SYNONYMOUS,UTR SNP Somatic 6 0.194 SQHIGH 9 33 42 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 57477 X 50438827 50438827 26 ALL diagnosis snv WNK3 missense Q520P NM_020922 10-PASFTL WNK3 MISSENSE SNP Somatic 3 0.133 SQHIGH 7 27 34 0 36 36 Cosmic_Gene T T G T T TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 65267 X 54321120 54321120 23 ALL diagnosis snv TENM1 missense K466Q NM_001163278 10-PASFTL TENM1 MISSENSE SNP Somatic 0 0.098 SQHIGH 7 36 43 0 39 39 Cosmic_Gene T T G T T TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 10178 X 123785947 123785947 21 ALL diagnosis snv VMA21 missense G58E NM_001017980 10-PASFTL VMA21 MISSENSE SNP Somatic PFAM:PF09446:VMA21 7 0.218 SQHIGH 9 18 27 0 34 34 G G A G G TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 203547 X 150573397 150573397 36 ALL diagnosis mnv IL21 missense M8_E9>IK NM_021803 10-PASFTL IL21 MISSENSE Sub Somatic -6 0.325 SQHIGH 11 43 54 0 44 44 CC CC TT CC CC TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 59067 4 123542142 123542143 31 ALL diagnosis mnv ATP9A frameshift D557fs NM_006045 10-PASFTL ATP9A SPAN5 Sub Somatic -2 0.472 SQHIGH 18 35 53 0 59 59 Cosmic_Gene CC CC TT CC CC TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 10079 20 50245611 50245612 66 ALL diagnosis mnv RAI2 missense M69_A70>IT NM_021785 10-PASFTL RAI2 INTRON,MISSENSE,UTR Sub Somatic -3 0.424 SQHIGH 12 39 51 0 46 46 Cosmic_Gene CC CC TT CC CC TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 10742 X 17819923 17819924 37 ALL diagnosis snv GBP6 silent A326A NM_198460 10-PASFXA GBP6 SYNONYMOUS SNP Somatic PFAM:PF02841:GBP_C 17 0.887 SQHIGH 11 18 29 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 163351 1 89847359 89847359 38 ALL diagnosis snv HSD3B1 silent G177G NM_000862 10-PASFXA HSD3B1 SYNONYMOUS SNP Somatic PFAM:PF01073:3Beta_HSD 13 0.612 SQHIGH 21 22 43 0 49 49 Cosmic_Gene C C T C C TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 3283 1 120056677 120056677 84 ALL diagnosis snv CDCA7 missense D367N NM_031942 10-PASFXA CDCA7 MISSENSE SNP Somatic PFAM:PF10497:zf-4CXXC_R1 1 0.161 SQHIGH 5 13 18 0 23 23 Cosmic_Gene G G A G G TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 83879 2 174231074 174231074 19 ALL diagnosis snv MIR8053 EXON E13_exon NM_006587 10-PASFXA CORIN INTRON SNP Somatic 9 0.392 SQHIGH 13 9 22 0 23 23 Cosmic_Gene C C T C C TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 10699 4 47654699 47654699 52 ALL diagnosis snv CDK6 silent P315P NM_001259 10-PASFXA CDK6 SYNONYMOUS SNP Somatic 10 0.439 SQHIGH 12 16 28 1 29 30 Cosmic_Gene C C A C C TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 1021 7 92244490 92244490 35 ALL diagnosis snv FREM1 silent T855T NM_144966 10-PASFXA FREM1 SYNONYMOUS SNP Somatic -9 0.061 SQHIGH 4 17 21 0 36 36 Cosmic_Gene A A G A A TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 158326 9 14816851 14816851 18 ALL diagnosis snv OR5M11 missense H56Y NM_001005245 10-PASFXA OR5M11 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 10 0.439 SQHIGH 26 24 50 0 44 44 G G A G G TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 219487 11 56310568 56310568 90 ALL diagnosis snv COMMD4 missense R137L NM_017828 10-PASFXA COMMD4 MISSENSE SNP Somatic -2 0.117 SQHIGH 8 23 31 1 39 40 G G T G G TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 54939 15 75632070 75632070 23 ALL diagnosis snv TP53 missense R248Q NM_000546 10-PASFXA TP53 MISSENSE SNP dbsnp.120:rs11540652 Somatic 13 0.612 SQHIGH 47 9 56 1 33 34 COSMIC:mut:10662,COSMIC:mut:99020,COSMIC:mut:99021,COSMIC:mut:99602 Cosmic_Gene C C T C C TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 7157 17 7577538 7577538 145 ALL diagnosis snv DNAJC7 missense V303A NM_003315 10-PASFXA DNAJC7 MISSENSE,UTR SNP Somatic 20 0.999 SQHIGH 20 18 38 0 41 41 Cosmic_Gene A A G A A TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 7266 17 40140760 40140760 79 ALL diagnosis snv ACE2 missense A311V NM_021804 10-PASFXA ACE2 MISSENSE SNP Somatic PFAM:PF01401:Peptidase_M2 -26 0.010 4 25 29 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 59272 X 15599482 15599482 17 ALL diagnosis mnv CDCA7 missense C368N NM_031942 10-PASFXA CDCA7 MISSENSE Sub Somatic PFAM:PF10497:zf-4CXXC_R1 -3 0.520 SQHIGH 5 14 19 0 27 27 Cosmic_Gene TG TG AA TG TG TARGET-10-PASFXA-03A-01D TARGET-10-PASFXA-10A-01D 83879 2 174231077 174231078 21 ALL relapse snv CFAP74 missense D306G NM_001080484 10-PASFXA CFAP74 MISSENSE SNP Somatic 2 0.209 SQHIGH 16 35 51 2 45 47 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 85452 1 1902227 1902227 34 ALL relapse snv CHD5 splice_region R645_E13splice_region NM_015557 10-PASFXA CHD5 ACCEPTOR SNP Somatic 12 0.596 SQHIGH 10 26 36 0 34 34 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 26038 1 6203999 6203999 32 ALL relapse snv NPPA-AS1 EXON E23_exon NM_001286 10-PASFXA NPPA-AS1|CLCN6 UTR|UTR3 SNP Somatic 5 0.281 SQHIGH 29 45 74 0 53 53 T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 100379251|1185 1 11900981 11900981 81 ALL relapse snv PADI3 silent K601K NM_016233 10-PASFXA PADI3 SYNONYMOUS SNP Somatic PFAM:PF03068:PAD -3 0.131 SQHIGH 10 18 28 1 23 24 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 51702 1 17609382 17609382 23 ALL relapse snv VWA5B1 nonsense R379* NM_001039500 10-PASFXA VWA5B1 NONSENSE SNP Somatic -7 0.095 SQHIGH 6 26 32 0 21 21 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 127731 1 20650017 20650017 14 ALL relapse snv IFNLR1 missense R307Q NM_170743 10-PASFXA IL28RA UTR3,MISSENSE SNP Somatic -8 0.088 SQHIGH 7 33 40 0 29 29 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 163702 1 24484263 24484263 18 ALL relapse snv RNF19B silent S611S NM_153341 10-PASFXA RNF19B UTR3,SYNONYMOUS SNP Somatic 6 0.320 SQHIGH 17 40 57 0 49 49 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 127544 1 33402773 33402773 51 ALL relapse snv DNALI1 missense Q125H NM_003462 10-PASFXA DNALI1 MISSENSE SNP Somatic PFAM:PF10211:Ax_dynein_light 16 0.839 SQHIGH 10 24 34 0 25 25 Cosmic_Gene G G T G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 7802 1 38025009 38025009 27 ALL relapse snv GJA9-MYCBP EXON E5_exon NM_012333 10-PASFXA RRAGC|GJA9-MYCBP|MYCBP TSS-UPSTREAM|UTR|UTR3,UTR SNP Somatic 5 0.281 SQHIGH 11 36 47 0 47 47 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 64121|100527950|26292 1 39328788 39328788 36 ALL relapse snv ZSWIM5 missense G531C NM_020883 10-PASFXA ZSWIM5 MISSENSE SNP Somatic -3 0.131 SQHIGH 8 29 37 0 44 44 C C A C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 57643 1 45508909 45508909 29 ALL relapse snv CCDC17 missense A150V NM_001114938 10-PASFXA CCDC17 MISSENSE SNP Somatic 11 0.537 SQHIGH 18 30 48 1 30 31 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 149483 1 46088933 46088933 36 ALL relapse snv FGGY missense A376V NM_001113411 10-PASFXA FGGY MISSENSE SNP Somatic 6 0.320 SQHIGH 15 27 42 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55277 1 60103953 60103953 53 ALL relapse snv GBP6 silent A326A NM_198460 10-PASFXA GBP6 SYNONYMOUS SNP Somatic PFAM:PF02841:GBP_C 16 0.839 SQHIGH 12 19 31 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 163351 1 89847359 89847359 40 ALL relapse snv TGFBR3 silent Q433Q NM_003243 10-PASFXA TGFBR3 SYNONYMOUS,UTR SNP Somatic -10 0.076 SQHIGH 7 47 54 0 52 52 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 7049 1 92185564 92185564 21 ALL relapse snv DBT silent L317L NM_001918 10-PASFXA DBT SYNONYMOUS SNP Somatic PFAM:PF00198:2-oxoacid_dh -12 0.065 3 18 21 0 27 27 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 1629 1 100676318 100676318 11 ALL relapse snv AMIGO1 nonsense E480* NM_020703 10-PASFXA AMIGO1 NONSENSE SNP Somatic -8 0.088 SQHIGH 8 42 50 0 53 53 Cosmic_Gene C C A C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 57463 1 110050097 110050097 26 ALL relapse snv CHIA splice_region S285_E8splice_region NM_021797 10-PASFXA CHIA DONOR SNP Somatic 3 0.230 SQHIGH 18 43 61 0 55 55 Cosmic_Gene A A C A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 27159 1 111862094 111862094 56 ALL relapse snv HSD3B1 silent G177G NM_000862 10-PASFXA HSD3B1 SYNONYMOUS SNP Somatic PFAM:PF01073:3Beta_HSD 15 0.787 SQHIGH 24 22 46 0 49 49 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 3283 1 120056677 120056677 94 ALL relapse snv HRNR missense A384V NM_001009931 10-PASFXA HRNR MISSENSE SNP Somatic 5 0.281 SQHIGH 17 35 52 1 50 51 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 388697 1 152192954 152192954 47 ALL relapse snv DCST2 missense I501M NM_144622 10-PASFXA DCST2 MISSENSE SNP Somatic PFAM:PF07782:DC_STAMP -6 0.103 SQHIGH 10 55 65 1 46 47 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 127579 1 154999031 154999031 18 ALL relapse snv SPATA17 missense A265E NM_138796 10-PASFXA SPATA17 MISSENSE SNP Somatic 2 0.209 SQHIGH 10 9 19 0 20 20 Cosmic_Gene C C A C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 128153 1 217955586 217955586 38 ALL relapse snv ZNF678 silent P319P NM_178549 10-PASFXA ZNF678 SYNONYMOUS,UTR SNP Somatic -8 0.088 SQHIGH 12 38 50 1 47 48 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 339500 1 227842743 227842743 29 ALL relapse snv ZNF678 silent K321K NM_178549 10-PASFXA ZNF678 SYNONYMOUS,UTR SNP dbsnp.134:rs140316402 Somatic -8 0.088 SQHIGH 12 50 62 1 41 42 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 339500 1 227842749 227842749 21 ALL relapse snv KLF11 missense S118L NM_003597 10-PASFXA KLF11 MISSENSE SNP Somatic 3 0.230 SQHIGH 21 48 69 1 53 54 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 8462 2 10187817 10187817 49 ALL relapse snv NT5C1B missense C87Y NM_001002006 10-PASFXA NT5C1B-RDH14|NT5C1B INTRON,MISSENSE|INTRON,MISSENSE SNP Somatic 8 0.396 SQHIGH 12 34 46 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 100526794|93034 2 18768300 18768300 33 ALL relapse snv TTC7A missense R163W NM_020458 10-PASFXA TTC7A MISSENSE SNP Somatic 14 0.725 SQHIGH 14 19 33 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 57217 2 47184116 47184116 56 ALL relapse snv ADD2 splice P531P NM_001617 10-PASFXA ADD2 SYNONYMOUS SNP Somatic 3 0.230 SQHIGH 33 56 89 0 54 54 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 119 2 70903928 70903928 80 ALL relapse snv DUSP11 missense I26T NM_003584 10-PASFXA C2orf78|DUSP11 TSS-UPSTREAM|MISSENSE SNP Somatic 4 0.254 SQHIGH 17 36 54 0 41 41 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 388960|8446 2 74007166 74007166 48 ALL relapse snv HK2 missense R350Q NM_000189 10-PASFXA HK2 MISSENSE SNP Somatic PFAM:PF03727:Hexokinase_2 4 0.254 SQHIGH 27 51 78 1 61 62 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 3099 2 75105832 75105832 67 ALL relapse snv CNNM3 missense R356H NM_017623 10-PASFXA CNNM3|LOC100506036 MISSENSE|TSS-UPSTREAM SNP Somatic 3 0.230 SQHIGH 11 22 33 0 30 30 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 26505|100506036 2 97483081 97483081 35 ALL relapse snv CHST10 missense S101P NM_004854 10-PASFXA CHST10 MISSENSE SNP Somatic 3 0.230 SQHIGH 16 50 66 1 52 53 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 9486 2 101014496 101014496 35 ALL relapse snv SLC9A2 silent G176G NM_003048 10-PASFXA SLC9A2 SYNONYMOUS SNP Somatic 1 0.189 SQHIGH 8 34 42 0 47 47 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 6549 2 103274261 103274261 28 ALL relapse snv SLC9A2 missense V593A NM_003048 10-PASFXA SLC9A2 MISSENSE SNP Somatic 9 0.439 SQHIGH 7 10 17 0 32 32 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 6549 2 103318894 103318894 36 ALL relapse snv TTN missense R20911Q NM_133378 10-PASFXA TTN|LOC100506866 MISSENSE|INTRON SNP dbsnp.134:rs140127488 Somatic -12 0.065 11 79 90 0 67 67 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 7273|100506866 2 179440423 179440423 28 ALL relapse snv ANO10 missense G655R NM_018075 10-PASFXA ANO10 UTR3,MISSENSE SNP Somatic 9 0.439 SQHIGH 23 26 49 4 81 85 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55129 3 43408418 43408418 81 ALL relapse snv SLC6A20 silent A510A NM_020208 10-PASFXA SLC6A20 SYNONYMOUS SNP Somatic PFAM:PF00209:SNF -2 0.142 SQHIGH 9 12 21 0 24 24 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 54716 3 45801448 45801448 35 ALL relapse snv GPR156 silent C7C NM_153002 10-PASFXA GPR156 SYNONYMOUS SNP Somatic 6 0.320 SQHIGH 10 9 19 0 29 29 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 165829 3 119962925 119962925 49 ALL relapse snv STAG1 missense E602G NM_005862 10-PASFXA STAG1 MISSENSE SNP Somatic -8 0.088 SQHIGH 4 12 16 0 24 24 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10274 3 136141638 136141638 17 ALL relapse snv ABCF3 missense A75V NM_018358 10-PASFXA ABCF3 MISSENSE SNP Somatic 13 0.657 SQHIGH 23 24 47 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55324 3 183904586 183904586 77 ALL relapse snv SENP2 missense K578E NM_021627 10-PASFXA SENP2 MISSENSE SNP Somatic PFAM:PF02902:Peptidase_C48 -7 0.095 SQHIGH 4 10 14 1 31 32 A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 59343 3 185347594 185347594 16 ALL relapse snv ADD1 splice_region D621_E15splice_region NM_001119 10-PASFXA ADD1 ACCEPTOR SNP Somatic 3 0.230 SQHIGH 17 48 65 0 43 43 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 118 4 2929889 2929889 42 ALL relapse snv PSAPL1 missense V382M NM_001085382 10-PASFXA PSAPL1|SORCS2 MISSENSE|INTRON SNP Somatic 0 0.172 SQHIGH 9 35 44 1 42 43 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 768239|57537 4 7435463 7435463 21 ALL relapse snv MIR8053 EXON E13_exon NM_006587 10-PASFXA CORIN INTRON SNP Somatic 9 0.439 SQHIGH 11 18 29 0 23 23 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10699 4 47654699 47654699 32 ALL relapse snv PDHA2 silent G172G NM_005390 10-PASFXA PDHA2 SYNONYMOUS SNP Somatic 8 0.396 SQHIGH 11 26 37 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 5161 4 96761817 96761817 43 ALL relapse snv TIFA silent P161P NM_052864 10-PASFXA TIFA SYNONYMOUS SNP Somatic 10 0.485 SQHIGH 7 21 28 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 92610 4 113199090 113199090 24 ALL relapse snv INTU missense C423Y NM_015693 10-PASFXA INTU MISSENSE SNP Somatic -7 0.095 SQHIGH 6 31 37 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 27152 4 128608841 128608841 18 ALL relapse snv TMEM184C missense A414S NM_018241 10-PASFXA TMEM184C MISSENSE SNP Somatic 16 0.839 SQHIGH 15 18 33 0 35 35 G G T G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55751 4 148555508 148555508 56 ALL relapse snv LRP2BP silent V263V NM_018409 10-PASFXA LRP2BP SYNONYMOUS SNP Somatic -10 0.076 SQHIGH 4 26 30 0 41 41 A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55805 4 186294024 186294024 15 ALL relapse snv SETD9 missense V52A NM_153706 10-PASFXA SETD9 MISSENSE SNP Somatic -1 0.157 SQHIGH 10 31 41 0 33 33 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 133383 5 56207052 56207052 28 ALL relapse snv MSH3 silent S1067S NM_002439 10-PASFXA MSH3 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 1 0.189 SQHIGH 8 20 28 0 17 17 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 4437 5 80169005 80169005 18 ALL relapse snv DCP2 missense N223S NM_152624 10-PASFXA DCP2 MISSENSE,UTR SNP Somatic 13 0.657 SQHIGH 12 22 34 0 31 31 A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 167227 5 112337136 112337136 39 ALL relapse snv PCDHB15 missense R652C NM_018935 10-PASFXA PCDHB15 MISSENSE SNP Somatic -4 0.120 SQHIGH 9 33 42 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 56121 5 140627100 140627100 17 ALL relapse snv SMIM23 silent A118A NM_001289970 10-PASFXA SMIM23 SYNONYMOUS SNP Somatic -2 0.142 SQHIGH 8 44 52 0 44 44 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 644994 5 171217927 171217927 22 ALL relapse snv STK10 nonsense R673* NM_005990 10-PASFXA STK10 NONSENSE SNP Somatic PFAM:PF12474:PKK 1 0.189 SQHIGH 14 24 38 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 6793 5 171491789 171491789 35 ALL relapse snv BMP6 missense R233Q NM_001718 10-PASFXA BMP6 MISSENSE SNP Somatic PFAM:PF00688:TGFb_propeptide 5 0.281 SQHIGH 15 36 51 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 654 6 7845406 7845406 50 ALL relapse snv EEF1E1-BLOC1S5 EXON E5_exon NM_201280 10-PASFXA MUTED|EEF1E1-MUTED|MUTED-TXNDC5 UTR3|UTR|INTRON SNP Somatic 5 0.281 SQHIGH 8 25 33 0 38 38 A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 63915|100526837|100526836 6 8015678 8015678 29 ALL relapse snv ZKSCAN4 missense G196A NM_019110 10-PASFXA ZKSCAN4 MISSENSE SNP Somatic 1 0.189 SQHIGH 27 29 56 0 28 28 Cosmic_Gene C C G C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 387032 6 28215912 28215912 60 ALL relapse snv COL11A2 missense A59V NM_080680 10-PASFXA COL11A2 MISSENSE SNP Somatic 4 0.254 SQHIGH 25 51 76 1 75 76 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 1302 6 33157153 33157153 74 ALL relapse snv KCNK17 silent T221T NM_031460 10-PASFXA KCNK17 SYNONYMOUS SNP dbsnp.134:rs142837787 Somatic PFAM:PF07885:Ion_trans_2 5 0.281 SQHIGH 23 36 59 0 39 39 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 89822 6 39271758 39271758 60 ALL relapse snv COL12A1 missense V1218M NM_004370 10-PASFXA COL12A1 MISSENSE SNP dbsnp.134:rs151182788 Somatic -13 0.059 10 56 66 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 1303 6 75862112 75862112 21 ALL relapse snv TBX18 missense E233G NM_001080508 10-PASFXA TBX18 MISSENSE SNP Somatic -5 0.112 SQHIGH 6 35 41 0 43 43 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 9096 6 85466489 85466489 20 ALL relapse snv ETV1 missense N36D NM_004956 10-PASFXA ETV1 TSS-UPSTREAM,MISSENSE SNP Somatic PFAM:PF04621:ETS_PEA3_N -35 0.004 2 17 19 0 39 39 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 2115 7 14027738 14027738 10 ALL relapse snv NOD1 silent L212L NM_006092 10-PASFXA NOD1 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 8 0.396 SQHIGH 7 10 17 1 18 19 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10392 7 30492397 30492397 19 ALL relapse snv CDK6 silent P315P NM_001259 10-PASFXA CDK6 SYNONYMOUS SNP Somatic 10 0.485 SQHIGH 13 10 23 1 29 30 Cosmic_Gene C C A C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 1021 7 92244490 92244490 48 ALL relapse snv ASB4 silent C103C NM_016116 10-PASFXA ASB4 SYNONYMOUS SNP Somatic PFAM:PF12796:Ank_2 -1 0.157 SQHIGH 11 40 51 0 45 45 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 51666 7 95125191 95125191 33 ALL relapse snv ASZ1 missense A373T NM_130768 10-PASFXA ASZ1 MISSENSE,UTR SNP Somatic 2 0.209 SQHIGH 9 12 21 0 18 18 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 136991 7 117008710 117008710 29 ALL relapse snv CCDC136 silent T463T NM_022742 10-PASFXA CCDC136 SYNONYMOUS,INTRON SNP Somatic -2 0.142 SQHIGH 7 38 45 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 64753 7 128446882 128446882 17 ALL relapse snv KLHDC10 missense R200Q NM_014997 10-PASFXA KLHDC10 MISSENSE SNP dbsnp.134:rs149721697 Somatic 0 0.172 SQHIGH 8 22 30 0 32 32 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 23008 7 129760712 129760712 28 ALL relapse snv LOC93432 silent T2285T NM_001293626 10-PASFXA SNP Somatic 13 0.657 SQHIGH 10 14 24 0 21 21 T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 7 141921166 141921166 32 ALL relapse snv EZH2 silent R527R NM_001203247 10-PASFXA EZH2 SYNONYMOUS,INTRON SNP Somatic -3 0.131 SQHIGH 10 50 60 0 42 42 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 2146 7 148512082 148512082 25 ALL relapse snv ZNF862 missense A1122V NM_001099220 10-PASFXA ZNF862 MISSENSE SNP Somatic 4 0.254 SQHIGH 29 48 77 1 44 45 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 643641 7 149561228 149561228 57 ALL relapse snv WDR86 missense A175V NM_198285 10-PASFXA WDR86 MISSENSE SNP Somatic -8 0.088 SQHIGH 8 13 21 0 14 14 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 349136 7 151093064 151093064 21 ALL relapse snv PRKAG2 silent R84R NM_016203 10-PASFXA PRKAG2 SYNONYMOUS SNP Somatic 3 0.230 SQHIGH 14 48 62 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 51422 7 151478452 151478452 36 ALL relapse snv KMT2C silent Q1785Q NM_170606 10-PASFXA KMT2C SYNONYMOUS SNP dbsnp.132:rs113994996 Somatic -1 0.157 SQHIGH 7 19 26 0 26 26 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 58508 7 151879590 151879590 23 ALL relapse snv CSMD1 missense T3562A NM_033225 10-PASFXA CSMD1 MISSENSE SNP Somatic -1 0.157 SQHIGH 12 48 60 0 49 49 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 64478 8 2796118 2796118 34 ALL relapse snv BAALC-AS1 EXON E1_exon NM_024812 10-PASFXA BAALC|LOC100499183 INTRON|UTR SNP Somatic 9 0.439 SQHIGH 11 30 41 0 54 54 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 79870|100499183 8 104178284 104178284 44 ALL relapse snv SQLE missense H522Y NM_003129 10-PASFXA SQLE MISSENSE SNP Somatic PFAM:PF08491:SE 13 0.657 SQHIGH 13 3 16 0 27 27 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 6713 8 126034026 126034026 78 ALL relapse snv DENND4C silent P512P NM_017925 10-PASFXA DENND4C SYNONYMOUS SNP Somatic -7 0.095 SQHIGH 4 14 18 0 26 26 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55667 9 19316463 19316463 16 ALL relapse snv ACER2 splice R168_E4splice NM_001010887 10-PASFXA ACER2 DISRUPT SNP Somatic -8 0.088 SQHIGH 5 33 38 0 62 62 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 340485 9 19435084 19435084 22 ALL relapse snv ENHO missense N16S NM_198573 10-PASFXA ENHO MISSENSE SNP Somatic -1 0.157 SQHIGH 5 13 18 1 43 44 T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 375704 9 34521647 34521647 22 ALL relapse snv UNC13B missense L1562V NM_006377 10-PASFXA ATP8B5P|UNC13B TSS-UPSTREAM|MISSENSE SNP Somatic 16 0.839 SQHIGH 15 17 32 0 25 25 Cosmic_Gene C C G C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 158381|10497 9 35403938 35403938 46 ALL relapse snv FKBP15 missense Q656H NM_015258 10-PASFXA FKBP15 MISSENSE SNP Somatic 7 0.359 SQHIGH 24 35 59 0 33 33 Cosmic_Gene C C G C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 23307 9 115941028 115941028 56 ALL relapse snv ZNF618 missense Y522C NM_133374 10-PASFXA ZNF618 MISSENSE SNP Somatic 8 0.396 SQHIGH 23 56 79 0 58 58 A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 114991 9 116811426 116811426 62 ALL relapse snv TAF3 missense S437P NM_031923 10-PASFXA TAF3 MISSENSE SNP Somatic 1 0.189 SQHIGH 12 33 45 0 33 33 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 83860 10 8006782 8006782 32 ALL relapse snv TAF3 missense A440T NM_031923 10-PASFXA TAF3 MISSENSE SNP Somatic -13 0.059 5 42 47 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 83860 10 8006791 8006791 14 ALL relapse snv TNKS2 missense E130A NM_025235 10-PASFXA TNKS2 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 8 0.396 SQHIGH 13 16 29 0 29 29 Cosmic_Gene A A C A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 80351 10 93572929 93572929 47 ALL relapse snv CFAP58 missense R831H NM_001008723 10-PASFXA CFAP58 MISSENSE SNP dbsnp.134:rs143080879 Somatic 1 0.189 SQHIGH 13 53 66 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 159686 10 106209944 106209944 33 ALL relapse snv CFAP46 missense A2004T NM_001200049 10-PASFXA CFAP46 MISSENSE SNP Somatic 2 0.209 SQHIGH 12 40 52 0 37 37 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 54777 10 134660768 134660768 31 ALL relapse snv OR52B2 missense L321P NM_001004052 10-PASFXA OR52B2 MISSENSE SNP Somatic -3 0.131 SQHIGH 12 42 54 0 34 34 A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 255725 11 6190595 6190595 28 ALL relapse snv DNHD1 missense R979C NM_144666 10-PASFXA DNHD1 MISSENSE SNP Somatic 13 0.657 SQHIGH 14 22 36 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 144132 11 6555340 6555340 55 ALL relapse snv TUB-AS1 EXON E2_exon NM_003320 10-PASFXA TUB INTRON SNP Somatic -8 0.088 SQHIGH 7 20 27 0 26 26 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 7275 11 8083683 8083683 22 ALL relapse snv DKK3 silent P305P NM_015881 10-PASFXA DKK3 SYNONYMOUS SNP Somatic -6 0.103 SQHIGH 8 43 51 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 27122 11 11986149 11986149 24 ALL relapse snv KCNC1 silent T410T NM_001112741 10-PASFXA KCNC1 SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans PFAM:PF07885:Ion_trans_2 -16 0.044 4 38 42 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 3746 11 17793871 17793871 10 ALL relapse snv SYT13 missense T203A NM_020826 10-PASFXA SYT13 MISSENSE SNP Somatic 7 0.359 SQHIGH 15 31 46 1 40 41 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 57586 11 45274211 45274211 37 ALL relapse snv OR5M11 missense H56Y NM_001005245 10-PASFXA OR5M11 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.281 SQHIGH 19 37 56 0 44 44 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 219487 11 56310568 56310568 55 ALL relapse snv TMX2 missense I138S NM_015959 10-PASFXA TMX2-CTNND1|C11orf31|TMX2 INTRON|TSS-UPSTREAM|INTRON,MISSENSE,UTR SNP Somatic 6 0.320 SQHIGH 20 35 55 0 45 45 T T G T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 100528016|280636|51075 11 57505874 57505874 60 ALL relapse snv CDC42BPG silent L123L NM_017525 10-PASFXA CDC42BPG SYNONYMOUS SNP dbsnp.134:rs147914897 Somatic 12 0.596 SQHIGH 19 21 40 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55561 11 64608088 64608088 61 ALL relapse snv DPF2 missense R83W NM_006268 10-PASFXA DPF2 MISSENSE SNP Somatic 9 0.439 SQHIGH 11 18 29 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 5977 11 65108490 65108490 41 ALL relapse snv CORO1B missense A430T NM_020441 10-PASFXA CORO1B|PTPRCAP MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.172 SQHIGH 13 18 31 0 16 16 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 57175|5790 11 67206198 67206198 28 ALL relapse snv CLPB missense R603H NM_030813 10-PASFXA CLPB MISSENSE SNP Somatic PFAM:PF10431:ClpB_D2-small 1 0.189 SQHIGH 12 38 50 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 81570 11 72005133 72005133 33 ALL relapse snv MYO7A silent L837L NM_000260 10-PASFXA MYO7A SYNONYMOUS SNP Somatic 13 0.657 SQHIGH 10 25 35 0 25 25 Cosmic_Gene C C A C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 4647 11 76890924 76890924 26 ALL relapse snv ARHGAP20 missense Y487H NM_020809 10-PASFXA ARHGAP20 MISSENSE SNP Somatic -1 0.157 SQHIGH 7 35 42 0 27 27 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 57569 11 110454418 110454418 16 ALL relapse snv GLB1L2 silent V458V NM_138342 10-PASFXA GLB1L2 SYNONYMOUS SNP Somatic 1 0.189 SQHIGH 13 52 65 0 61 61 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 89944 11 134241332 134241332 40 ALL relapse snv SLC15A5 missense A353V NM_001170798 10-PASFXA SLC15A5 MISSENSE SNP Somatic 7 0.359 SQHIGH 11 18 29 0 41 41 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 729025 12 16392719 16392719 48 ALL relapse snv KRAS nonsense *189K NM_004985 10-PASFXA KRAS UTR3,NONSTOP SNP Somatic -10 0.076 SQHIGH 4 17 21 0 23 23 Cosmic_Gene A A T A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 3845 12 25362731 25362731 14 ALL relapse snv KMT2D silent Q2816Q NM_003482 10-PASFXA KMT2D SYNONYMOUS SNP Somatic -16 0.044 4 33 37 0 27 27 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 8085 12 49432691 49432691 10 ALL relapse snv TROAP missense I118L NM_005480 10-PASFXA TROAP MISSENSE SNP Somatic 0 0.172 SQHIGH 25 17 42 0 33 33 Cosmic_Gene A A C A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10024 12 49719298 49719298 83 ALL relapse snv FAM186A silent S642S NM_001145475 10-PASFXA FAM186A SYNONYMOUS SNP Somatic -33 0.005 2 19 21 1 23 24 T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 121006 12 50748689 50748689 3 ALL relapse snv FAM186A missense D226Y NM_001145475 10-PASFXA FAM186A MISSENSE SNP Somatic -6 0.103 SQHIGH 4 17 21 0 16 16 C C A C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 121006 12 50749939 50749939 10 ALL relapse snv MAP3K12 splice_region N241_E5splice_region NM_006301 10-PASFXA MAP3K12 INTRON SNP Somatic 4 0.254 SQHIGH 15 52 67 1 62 63 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 7786 12 53879832 53879832 37 ALL relapse snv ZBTB39 missense E104G NM_014830 10-PASFXA ZBTB39 MISSENSE SNP Somatic PFAM:PF00651:BTB 12 0.596 SQHIGH 30 22 52 0 51 51 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 9880 12 57398391 57398391 115 ALL relapse snv LRP1 silent R3707R NM_002332 10-PASFXA LRP1 SYNONYMOUS SNP Somatic 11 0.537 SQHIGH 29 38 67 1 56 57 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 4035 12 57598459 57598459 81 ALL relapse snv HAL missense R369Q NM_002108 10-PASFXA HAL MISSENSE SNP dbsnp.132:rs117991621 Somatic -4 0.120 SQHIGH 7 13 20 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 3034 12 96379884 96379884 36 ALL relapse snv CRY1 missense R582I NM_004075 10-PASFXA CRY1 MISSENSE SNP Somatic -9 0.082 SQHIGH 4 12 16 0 28 28 Cosmic_Gene C C A C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 1407 12 107386581 107386581 19 ALL relapse snv SART3 splice_region D437_E10splice_region NM_014706 10-PASFXA SART3 ACCEPTOR SNP Somatic -3 0.131 SQHIGH 6 30 36 1 48 49 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 9733 12 108930565 108930565 17 ALL relapse snv HECTD4 splice_region G3884_E69splice_region NM_001109662 10-PASFXA HECTD4 INTRON SNP Somatic 12 0.596 SQHIGH 11 25 36 0 47 47 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 283450 12 112608130 112608130 44 ALL relapse snv SIRT4 splice_region R166_E2splice_region NM_012240 10-PASFXA SIRT4 INTRON SNP Somatic 6 0.320 SQHIGH 12 30 42 0 58 58 G G T G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 23409 12 120741868 120741868 50 ALL relapse snv TMEM132C silent A416A NM_001136103 10-PASFXA TMEM132C SYNONYMOUS SNP Somatic 1 0.189 SQHIGH 7 27 34 1 41 42 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 92293 12 129100823 129100823 19 ALL relapse snv JPH4 silent H315H NM_032452 10-PASFXA JPH4 SYNONYMOUS SNP Somatic PFAM:PF02493:MORN 0 0.172 SQHIGH 5 17 22 0 22 22 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 84502 14 24045100 24045100 16 ALL relapse snv BDKRB1 missense G106R NM_000710 10-PASFXA BDKRB1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 2 0.209 SQHIGH 12 37 49 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 623 14 96730335 96730335 30 ALL relapse snv PLCB2 missense V207A NM_004573 10-PASFXA PLCB2 MISSENSE SNP Somatic 7 0.359 SQHIGH 18 50 68 0 55 55 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 5330 15 40591392 40591392 51 ALL relapse snv SPTBN5 missense R92L NM_016642 10-PASFXA LOC100289090|SPTBN5 TSS-UPSTREAM|MISSENSE SNP Somatic 0 0.172 SQHIGH 6 17 23 0 30 30 Cosmic_Gene C C A C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 100289090|51332 15 42185201 42185201 24 ALL relapse snv COPS2 missense N432I NM_004236 10-PASFXA COPS2 MISSENSE SNP Somatic 8 0.396 SQHIGH 12 30 42 0 32 32 Cosmic_Gene T T A T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 9318 15 49420184 49420184 33 ALL relapse snv CYP19A1 missense L272M NM_000103 10-PASFXA CYP19A1 MISSENSE SNP Somatic PFAM:PF00067:p450 -24 0.020 3 29 32 0 36 36 Cosmic_Gene G G T G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 1588 15 51507944 51507944 10 ALL relapse snv CYP19A1 missense S267F NM_000103 10-PASFXA CYP19A1 MISSENSE SNP Somatic PFAM:PF00067:p450 -2 0.142 SQHIGH 5 20 25 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 1588 15 51507958 51507958 22 ALL relapse snv SCAPER silent D319D NM_020843 10-PASFXA SCAPER SYNONYMOUS SNP Somatic -10 0.076 SQHIGH 6 17 23 0 24 24 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 49855 15 77067274 77067274 20 ALL relapse snv BLM missense S1368Y NM_000057 10-PASFXA BLM MISSENSE SNP Somatic -9 0.082 SQHIGH 7 46 53 0 22 22 Cosmic_Gene C C A C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 641 15 91358358 91358358 11 ALL relapse snv CREBBP silent F1241F NM_004380 10-PASFXA CREBBP SYNONYMOUS SNP Somatic -6 0.103 SQHIGH 10 57 67 1 53 54 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 1387 16 3801783 3801783 19 ALL relapse snv C16orf96 silent Y999Y NM_001145011 10-PASFXA C16orf96 SYNONYMOUS SNP Somatic -9 0.082 SQHIGH 8 42 50 1 42 43 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 342346 16 4644481 4644481 16 ALL relapse snv ZC3H7A missense Y127H NM_014153 10-PASFXA ZC3H7A MISSENSE SNP Somatic 6 0.320 SQHIGH 10 15 25 0 27 27 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 29066 16 11870693 11870693 37 ALL relapse snv ERCC4 missense R624Q NM_005236 10-PASFXA LOC100505672|ERCC4 TSS-UPSTREAM|MISSENSE SNP Somatic 16 0.839 SQHIGH 13 18 31 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 100505672|2072 16 14031682 14031682 53 ALL relapse snv MYH11 missense T428S NM_002474 10-PASFXA MYH11 MISSENSE SNP Somatic PFAM:PF00063:Myosin_head 1 0.189 SQHIGH 14 55 69 0 53 53 Cosmic_Gene T T A T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 4629 16 15853552 15853552 37 ALL relapse snv ERN2 splice V682_E16splice NM_033266 10-PASFXA ERN2 DISRUPT SNP Somatic 2 0.209 SQHIGH 11 42 53 0 47 47 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10595 16 23706338 23706338 33 ALL relapse snv NFATC2IP silent V222V NM_032815 10-PASFXA NFATC2IP|MIR4517 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 1 0.189 SQHIGH 13 43 56 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 84901|100616487 16 28967478 28967478 43 ALL relapse snv LAT silent D154D NM_014387 10-PASFXA LAT SYNONYMOUS SNP Somatic -8 0.088 SQHIGH 6 36 42 0 45 45 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 27040 16 28998012 28998012 20 ALL relapse snv NOD2 missense R587C NM_022162 10-PASFXA NOD2 MISSENSE SNP dbsnp.132:rs104895479 Somatic 2 0.209 SQHIGH 11 38 49 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 64127 16 50745581 50745581 30 ALL relapse snv FHOD1 missense A122T NM_013241 10-PASFXA FHOD1 MISSENSE SNP Somatic -6 0.103 SQHIGH 7 41 48 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 29109 16 67272815 67272815 23 ALL relapse snv ADAMTS18 missense R257H NM_199355 10-PASFXA ADAMTS18 MISSENSE SNP Somatic -8 0.088 SQHIGH 10 45 55 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 170692 16 77401346 77401346 28 ALL relapse snv FAM57A silent G204G NM_024792 10-PASFXA FAM57A SYNONYMOUS SNP Somatic PFAM:PF03798:TRAM_LAG1_CLN8 1 0.189 SQHIGH 15 18 33 0 29 29 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 79850 17 644648 644648 50 ALL relapse snv TNFSF12 missense R227H NM_003809 10-PASFXA TNFSF13|TNFSF12-TNFSF13|SENP3-EIF4A1|TNFSF12|SENP3 TSS-UPSTREAM|INTRON|TSS-UPSTREAM|MISSENSE,UTR|TSS-UPSTREAM SNP Somatic -3 0.131 SQHIGH 13 49 62 1 37 38 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 8741|407977|100533955|8742|26168 17 7460597 7460597 21 ALL relapse snv TP53 missense R248Q NM_000546 10-PASFXA TP53 MISSENSE SNP dbsnp.120:rs11540652 Somatic 15 0.787 SQHIGH 33 5 38 1 33 34 COSMIC:mut:10662,COSMIC:mut:99020,COSMIC:mut:99021,COSMIC:mut:99602 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 7157 17 7577538 7577538 134 ALL relapse snv RAI1 missense S554P NM_030665 10-PASFXA RAI1 MISSENSE SNP Somatic -4 0.120 SQHIGH 11 55 66 0 45 45 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10743 17 17697922 17697922 26 ALL relapse snv MYO15A missense G296S NM_016239 10-PASFXA MYO15A MISSENSE SNP Somatic 6 0.320 SQHIGH 16 40 56 0 39 39 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 51168 17 18023000 18023000 41 ALL relapse snv PHF12 missense V790A NM_001290131 10-PASFXA PHF12 INTRON SNP Somatic 13 0.657 SQHIGH 11 22 33 0 47 47 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 57649 17 27237234 27237234 47 ALL relapse snv MYO18A missense S1069N NM_078471 10-PASFXA MYO18A MISSENSE SNP Somatic -15 0.049 11 14 25 0 18 18 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 399687 17 27437001 27437001 31 ALL relapse snv MYO18A missense T608A NM_078471 10-PASFXA MYO18A MISSENSE SNP Somatic 6 0.320 SQHIGH 22 40 62 0 49 49 T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 399687 17 27446360 27446360 64 ALL relapse snv DNAJC7 missense V303A NM_003315 10-PASFXA DNAJC7 MISSENSE,UTR SNP Somatic 10 0.485 SQHIGH 24 27 51 0 41 41 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 7266 17 40140760 40140760 75 ALL relapse snv RAB5C missense A97T NM_201434 10-PASFXA RAB5C MISSENSE SNP Somatic 1 0.189 SQHIGH 10 30 40 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 5878 17 40280696 40280696 37 ALL relapse snv TBX2 splice_region K270_E3splice_region NM_005994 10-PASFXA LOC645722|TBX2 INTRON,TSS-UPSTREAM|DONOR SNP Somatic 11 0.537 SQHIGH 25 22 47 0 31 31 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 645722|6909 17 59480572 59480572 71 ALL relapse snv CEP112 silent T673T NM_145036 10-PASFXA CEP112 SYNONYMOUS SNP Somatic 9 0.439 SQHIGH 15 13 28 0 18 18 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 201134 17 63898414 63898414 41 ALL relapse snv GPRC5C missense A162V NM_022036 10-PASFXA GPRC5C MISSENSE SNP Somatic PFAM:PF00003:7tm_3 11 0.537 SQHIGH 13 30 43 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55890 17 72436265 72436265 35 ALL relapse snv EVPL splice R741_E17splice NM_001988 10-PASFXA EVPL MISSENSE SNP Somatic -8 0.088 SQHIGH 6 28 34 0 27 27 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 2125 17 74010997 74010997 16 ALL relapse snv ST6GALNAC2 missense S210P NM_006456 10-PASFXA ST6GALNAC2 MISSENSE SNP Somatic PFAM:PF00777:Glyco_transf_29 10 0.485 SQHIGH 15 30 45 0 42 42 A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10610 17 74568760 74568760 49 ALL relapse snv DNAH17-AS1 EXON E36_exon NM_173628 10-PASFXA DNAH17 INTRON SNP Somatic 0 0.172 SQHIGH 8 41 49 1 49 50 Cosmic_Gene A A T A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 8632 17 76495704 76495704 18 ALL relapse snv FN3K splice_region G129_E3splice_region NM_022158 10-PASFXA FN3K DONOR SNP Somatic -10 0.076 SQHIGH 8 19 27 0 32 32 T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 64122 17 80698736 80698736 30 ALL relapse snv ENOSF1 missense I401T NM_017512 10-PASFXA ENOSF1 MISSENSE SNP Somatic PFAM:PF00113:Enolase_C 15 0.787 SQHIGH 28 23 51 0 52 52 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55556 18 675349 675349 108 ALL relapse snv LOC101927188 EXON E56_exon NM_005559 10-PASFXA LAMA1 INTRON SNP Somatic 3 0.230 SQHIGH 13 48 61 0 66 66 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 284217 18 6956104 6956104 45 ALL relapse snv LOC101927188 EXON E55_exon NM_005559 10-PASFXA LAMA1 INTRON SNP Somatic 6 0.320 SQHIGH 19 44 63 0 67 67 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 284217 18 6956843 6956843 67 ALL relapse snv MTCL1 missense A87T NM_015210 10-PASFXA MTCL1 MISSENSE SNP Somatic 2 0.209 SQHIGH 14 52 66 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 23255 18 8720396 8720396 28 ALL relapse snv TTC39C missense L551P NM_001135993 10-PASFXA TTC39C MISSENSE SNP Somatic 4 0.254 SQHIGH 13 24 37 1 31 32 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 125488 18 21711874 21711874 31 ALL relapse snv ZNF521 missense H686L NM_015461 10-PASFXA ZNF521 MISSENSE SNP Somatic 6 0.320 SQHIGH 14 54 68 0 61 61 Cosmic_Gene T T A T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 25925 18 22805825 22805825 42 ALL relapse snv ZNF407 silent A1055A NM_017757 10-PASFXA ZNF407 SYNONYMOUS SNP Somatic -6 0.103 SQHIGH 6 38 44 0 25 25 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55628 18 72346140 72346140 12 ALL relapse snv PARD6G-AS1 EXON E2_exon NM_032510 10-PASFXA PARD6G|LOC100130522 INTRON|UTR SNP Somatic 2 0.209 SQHIGH 13 43 56 0 51 51 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 84552|100130522 18 77936008 77936008 40 ALL relapse snv ABCA7 splice_region D1158_E25splice_region NM_019112 10-PASFXA ABCA7 DONOR SNP Somatic -15 0.049 5 39 44 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10347 19 1053840 1053840 14 ALL relapse snv ZNF562 missense P315L NM_001130031 10-PASFXA ZNF562 MISSENSE SNP Somatic 12 0.596 SQHIGH 27 34 61 0 59 59 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 54811 19 9763962 9763962 95 ALL relapse snv WDR83 splice G267_E11splice NM_001099737 10-PASFXA WDR83 DISRUPT SNP Somatic 1 0.189 SQHIGH 11 40 51 0 45 45 Cosmic_Gene G G T G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 84292 19 12786336 12786336 33 ALL relapse snv CPAMD8 missense R284W NM_015692 10-PASFXA CPAMD8 MISSENSE SNP Somatic 2 0.209 SQHIGH 12 41 53 0 27 27 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 27151 19 17113125 17113125 24 ALL relapse snv CCDC124 missense A175T NM_138442 10-PASFXA CCDC124 MISSENSE SNP Somatic PFAM:PF06244:DUF1014 0 0.172 SQHIGH 8 20 28 0 18 18 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 115098 19 18054375 18054375 19 ALL relapse snv GMIP missense Q583R NM_016573 10-PASFXA GMIP MISSENSE SNP Somatic 3 0.230 SQHIGH 24 43 67 1 48 49 Cosmic_Gene T T C T T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 51291 19 19745835 19745835 55 ALL relapse snv ZNF536 missense R803Q NM_014717 10-PASFXA ZNF536 MISSENSE SNP Somatic -3 0.131 SQHIGH 7 29 36 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 9745 19 31038934 31038934 22 ALL relapse snv GRIN2D splice_region D814_E11splice_region NM_000836 10-PASFXA GRWD1|GRIN2D TSS-UPSTREAM|DONOR SNP Somatic 4 0.254 SQHIGH 11 34 45 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 83743|2906 19 48945217 48945217 23 ALL relapse snv CNOT3 missense G125D NM_014516 10-PASFXA CNOT3 MISSENSE SNP Somatic PFAM:PF04065:Not3 -6 0.103 SQHIGH 8 36 44 0 36 36 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 4849 19 54647857 54647857 22 ALL relapse snv ESF1 missense R761W NM_016649 10-PASFXA ESF1 MISSENSE SNP Somatic PFAM:PF08159:NUC153 7 0.359 SQHIGH 18 23 41 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 51575 20 13695796 13695796 65 ALL relapse snv UQCC1 nonsense R160* NM_018244 10-PASFXA UQCC1 NONSENSE SNP Somatic PFAM:PF03981:Ubiq_cyt_C_chap -8 0.088 SQHIGH 4 17 21 0 26 26 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 55245 20 33935062 33935062 15 ALL relapse snv ZBTB46 missense C448R NM_025224 10-PASFXA ZBTB46 MISSENSE SNP Somatic 10 0.485 SQHIGH 10 14 24 0 27 27 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 140685 20 62384095 62384095 38 ALL relapse snv ITGB2 silent T391T NM_000211 10-PASFXA ITGB2 SYNONYMOUS SNP Somatic PFAM:PF04811:Sec23_trunk 5 0.281 SQHIGH 18 44 62 1 47 48 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 3689 21 46313370 46313370 40 ALL relapse snv SLC19A1 silent L537L NM_194255 10-PASFXA SLC19A1 SYNONYMOUS,INTRON SNP Somatic -17 0.041 8 73 81 1 41 42 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 6573 21 46935739 46935739 9 ALL relapse snv TTC28 silent P1599P NM_001145418 10-PASFXA TTC28|TTC28-AS1 SYNONYMOUS|INTRON SNP Somatic PFAM:PF12770:CHAT -8 0.088 SQHIGH 17 20 37 0 23 23 C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 23331|284900 22 28394850 28394850 44 ALL relapse snv LARGE-AS1 EXON E3_exon NM_004737 10-PASFXA LOC100506195|LARGE UTR|INTRON SNP Somatic 7 0.359 SQHIGH 20 41 61 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 100506195|9215 22 34121058 34121058 54 ALL relapse snv BRD1 missense S814P NM_014577 10-PASFXA BRD1 MISSENSE SNP Somatic 6 0.320 SQHIGH 19 26 45 0 46 46 Cosmic_Gene A A G A A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 23774 22 50181062 50181062 69 ALL relapse snv CDKL5 missense R840H NM_003159 10-PASFXA CDKL5 MISSENSE SNP Somatic 14 0.725 SQHIGH 21 25 46 1 35 36 Cosmic_Gene G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 6792 X 18646513 18646513 53 ALL relapse snv PHKA2-AS1 EXON E31_exon NM_000292 10-PASFXA LOC100132163|PHKA2 UTR|INTRON SNP Somatic -3 0.131 SQHIGH 9 38 47 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 100132163|5256 X 18912759 18912759 25 ALL relapse snv VSIG4 silent Y377Y NM_007268 10-PASFXA VSIG4 UTR3,SYNONYMOUS SNP Somatic -10 0.076 SQHIGH 7 32 39 0 46 46 G G A G G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 11326 X 65242174 65242174 25 ALL relapse snv RGAG1 missense A1131V NM_020769 10-PASFXA RGAG1 MISSENSE SNP dbsnp.134:rs140356169 Somatic 5 0.281 SQHIGH 16 43 59 1 54 55 Cosmic_Gene C C T C C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 57529 X 109697237 109697237 41 ALL relapse snv NOC2L silent D719D NM_015658 10-PASHUI NOC2L SYNONYMOUS SNP Somatic -3 0.091 SQHIGH 8 35 43 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 26155 1 880167 880167 21 ALL relapse snv GNB1 missense D76G NM_002074 10-PASHUI GNB1 MISSENSE SNP Somatic 14 0.617 SQHIGH 20 29 49 0 45 45 T T C T T TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 2782 1 1737954 1737954 67 ALL relapse snv MYOM3 silent L246L NM_152372 10-PASHUI MYOM3 SYNONYMOUS SNP Somatic -4 0.084 SQHIGH 10 48 58 1 58 59 Cosmic_Gene G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 127294 1 24424420 24424420 24 ALL relapse snv VANGL2 silent F228F NM_020335 10-PASHUI VANGL2 SYNONYMOUS SNP Somatic PFAM:PF06638:Strabismus -5 0.077 SQHIGH 6 27 33 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 57216 1 160389283 160389283 16 ALL relapse snv DOCK3 missense V148M NM_004947 10-PASHUI DOCK3 MISSENSE SNP Somatic 4 0.178 SQHIGH 13 41 54 0 30 30 G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 1795 3 51102005 51102005 28 ALL relapse snv DOCK3 silent A320A NM_004947 10-PASHUI DOCK3 SYNONYMOUS SNP Somatic 1 0.132 SQHIGH 11 34 45 0 43 43 G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 1795 3 51198056 51198056 35 ALL relapse snv PHLDB2 missense L369V NM_001134438 10-PASHUI PHLDB2 MISSENSE SNP Somatic 6 0.233 SQHIGH 20 56 76 0 53 53 Cosmic_Gene C C G C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 90102 3 111604029 111604029 51 ALL relapse snv LOC339874 EXON E17_exon NM_024800 10-PASHUI LOC339874|NEK11 UTR|INTRON SNP Somatic 1 0.132 SQHIGH 6 23 29 0 27 27 Cosmic_Gene T T A T T TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 339874|79858 3 131044500 131044500 18 ALL relapse snv SHOX2 silent A314A NM_003030 10-PASHUI SHOX2 SYNONYMOUS SNP Somatic 14 0.617 SQHIGH 15 17 32 0 23 23 G G T G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 6474 3 157815942 157815942 43 ALL relapse snv LRRC66 missense L588H NM_001024611 10-PASHUI LRRC66 MISSENSE SNP Somatic -4 0.084 SQHIGH 11 57 68 1 66 67 Cosmic_Gene A A T A A TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 339977 4 52861425 52861425 26 ALL relapse snv PDE5A missense R108W NM_001083 10-PASHUI PDE5A MISSENSE SNP Somatic 11 0.420 SQHIGH 14 27 41 0 33 33 G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 8654 4 120528283 120528283 41 ALL relapse snv FAT1 missense Q2850L NM_005245 10-PASHUI FAT1 MISSENSE SNP Somatic -1 0.109 SQHIGH 8 45 53 0 42 42 Cosmic_Gene T T A T T TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 2195 4 187539191 187539191 21 ALL relapse snv HTR4 silent T364T NM_001286410 10-PASHUI HTR4 UTR3,INTRON SNP dbsnp.134:rs145729392 Somatic 2 0.146 SQHIGH 12 47 59 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 3360 5 147861177 147861177 26 ALL relapse snv ATF6B missense D586N NM_004381 10-PASHUI ATF6B MISSENSE SNP Somatic 2 0.146 SQHIGH 12 52 64 0 60 60 C C T C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 1388 6 32084522 32084522 37 ALL relapse snv CNKSR3 splice_region G457_E12splice_region NM_173515 10-PASHUI CNKSR3 DONOR SNP Somatic 7 0.264 SQHIGH 16 19 35 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 154043 6 154731472 154731472 54 ALL relapse snv ABCB5 missense G969R NM_001163941 10-PASHUI ABCB5 MISSENSE SNP Somatic -3 0.091 SQHIGH 8 38 46 0 42 42 Cosmic_Gene G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 340273 7 20778643 20778643 24 ALL relapse snv MUC17 missense R4333W NM_001040105 10-PASHUI MUC17 MISSENSE SNP Somatic 10 0.373 SQHIGH 18 29 47 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 140453 7 100695137 100695137 60 ALL relapse snv DNAJC5B missense D73N NM_033105 10-PASHUI DNAJC5B MISSENSE SNP Somatic 16 0.775 SQHIGH 10 24 34 0 45 45 G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 85479 8 66988992 66988992 40 ALL relapse snv DENND4C missense S982N NM_017925 10-PASHUI DENND4C MISSENSE SNP Somatic -10 0.053 SQHIGH 3 5 8 0 17 17 Cosmic_Gene G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 55667 9 19342718 19342718 16 ALL relapse snv CYLC2 missense R79H NM_001340 10-PASHUI CYLC2 MISSENSE SNP dbsnp.134:rs146582312 Somatic 12 0.479 SQHIGH 16 11 27 0 30 30 Cosmic_Gene G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 1539 9 105767032 105767032 66 ALL relapse snv NT5C2 missense R367Q NM_012229 10-PASHUI NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase -2 0.099 SQHIGH 10 44 54 0 38 38 C C T C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 22978 10 104852955 104852955 25 ALL relapse snv KCTD14 missense E242K NM_023930 10-PASHUI KCTD14|NDUFC2-KCTD14 MISSENSE|UTR3 SNP Somatic -30 0.006 6 74 80 0 63 63 Cosmic_Gene C C T C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 65987|100532726 11 77727683 77727683 16 ALL relapse snv CHD4 missense R877W NM_001273 10-PASHUI CHD4 MISSENSE SNP Somatic 12 0.479 SQHIGH 17 31 48 1 64 65 Cosmic_Gene G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 1108 12 6702280 6702280 61 ALL relapse snv KRAS missense G12D NM_033360 10-PASHUI KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 2 0.146 SQHIGH 13 21 34 0 32 32 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 3845 12 25398284 25398284 43 ALL relapse snv ABCB9 missense L252P NM_019625 10-PASHUI ABCB9 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane 10 0.373 SQHIGH 26 39 65 0 38 38 A A G A A TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 23457 12 123434427 123434427 62 ALL relapse snv NEK3 missense S224F NM_002498 10-PASHUI NEK3 MISSENSE,UTR SNP Somatic 1 0.132 SQHIGH 6 17 23 0 29 29 Cosmic_Gene G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 4752 13 52718959 52718959 23 ALL relapse snv CREBBP missense R1446H NM_004380 10-PASHUI CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 5 0.198 SQHIGH 17 37 54 2 39 41 COSMIC:mut:88748 Cosmic_Gene C C T C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 1387 16 3788617 3788617 30 ALL relapse snv ACSM1 splice_region G476_E11splice_region NM_052956 10-PASHUI ACSM1 ACCEPTOR SNP Somatic 8 0.296 SQHIGH 28 39 67 0 41 41 Cosmic_Gene T T C T T TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 116285 16 20636853 20636853 70 ALL relapse snv FOXO3B EXON E4_exon NM_001145045 10-PASHUI FOXO3B|ZNF286B UTR|INTRON SNP Somatic -10 0.053 SQHIGH 5 21 26 0 36 36 A A C A A TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 2310|729288 17 18571397 18571397 20 ALL relapse snv INSR missense E181D NM_000208 10-PASHUI INSR MISSENSE SNP Somatic PFAM:PF00757:Furin-like 0 0.121 SQHIGH 11 46 57 0 61 61 Cosmic_Gene C C G C C TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 3643 19 7267465 7267465 37 ALL relapse snv ZFP36 missense D250H NM_003407 10-PASHUI LOC100652940|ZFP36|PLEKHG2 INTRON|MISSENSE|TSS-UPSTREAM SNP Somatic 11 0.420 SQHIGH 11 24 35 0 40 40 Cosmic_Gene G G C G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 100652940|7538|64857 19 39899088 39899088 41 ALL relapse snv ZBP1 missense P360S NM_030776 10-PASHUI ZBP1 MISSENSE SNP Somatic 11 0.420 SQHIGH 26 26 52 1 41 42 Cosmic_Gene G G A G G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 81030 20 56185220 56185220 71 ALL relapse complex C10orf12 frameshift T880_T881fs NM_015652 10-PASHUI C10orf12 FRAMESHIFT Sub Somatic -2 0.488 SQHIGH 24 44 68 0 91 91 Cosmic_Gene GACAAC GACAAC GG GACAAC GACAAC TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 26148 10 98743784 98743789 101 ALL diagnosis snv GNB1 missense D76G NM_002074 10-PASHUI GNB1 MISSENSE SNP Somatic 14 0.580 SQHIGH 29 12 41 0 45 45 T T C T T TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 2782 1 1737954 1737954 129 ALL diagnosis snv NRAS missense G12D NM_002524 10-PASHUI NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 4 0.174 SQHIGH 18 34 52 0 41 41 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 4893 1 115258747 115258747 52 ALL diagnosis snv FSIP2 silent N2132N NM_173651 10-PASHUI FSIP2 SYNONYMOUS SNP Somatic 17 0.856 SQHIGH 16 22 38 1 38 39 C C T C C TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 401024 2 186657992 186657992 47 ALL diagnosis snv KALRN missense T2870K NM_001024660 10-PASHUI KALRN MISSENSE SNP Somatic PFAM:PF03109:ABC1 1 0.132 SQHIGH 18 24 42 0 44 44 Cosmic_Gene C C A C C TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 8997 3 124437965 124437965 66 ALL diagnosis snv SHOX2 silent A314A NM_003030 10-PASHUI SHOX2 SYNONYMOUS SNP Somatic -8 0.062 SQHIGH 5 20 25 0 23 23 G G T G G TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 6474 3 157815942 157815942 15 ALL diagnosis snv CDH18 missense A130D NM_004934 10-PASHUI CDH18 MISSENSE SNP Somatic 8 0.275 SQHIGH 8 16 24 0 27 27 Cosmic_Gene G G T G G TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 1016 5 19747185 19747185 29 ALL diagnosis snv TAAR6 missense V193I NM_175067 10-PASHUI TAAR6 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 9 0.307 SQHIGH 9 18 27 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 319100 6 132892037 132892037 35 ALL diagnosis snv MET missense R426H NM_001127500 10-PASHUI MET MISSENSE SNP Somatic PFAM:PF01403:Sema 7 0.247 SQHIGH 12 29 41 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 4233 7 116371798 116371798 34 ALL diagnosis snv TMEM178B silent Y238Y NM_001195278 10-PASHUI TMEM178B SYNONYMOUS SNP dbsnp.129:rs58854811 Somatic PFAM:PF00822:PMP22_Claudin 11 0.389 SQHIGH 13 10 23 0 31 31 C C T C C TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 100507421 7 141170415 141170415 60 ALL diagnosis snv DNAJC5B missense D73N NM_033105 10-PASHUI DNAJC5B MISSENSE SNP Somatic 17 0.856 SQHIGH 23 25 48 0 45 45 G G A G G TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 85479 8 66988992 66988992 81 ALL diagnosis snv CDHR1 missense A485T NM_033100 10-PASHUI CDHR1 MISSENSE SNP Somatic -3 0.091 SQHIGH 21 30 51 1 41 42 Cosmic_Gene G G A G G TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 92211 10 85970889 85970889 54 ALL diagnosis snv ACSM1 splice_region G476_E11splice_region NM_052956 10-PASHUI ACSM1 ACCEPTOR SNP Somatic 10 0.345 SQHIGH 29 25 54 0 41 41 Cosmic_Gene T T C T T TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 116285 16 20636853 20636853 91 ALL diagnosis snv CX3CL1 missense R61C NM_002996 10-PASHUI CX3CL1 MISSENSE SNP Somatic -7 0.067 SQHIGH 7 48 55 0 50 50 C C T C C TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 6376 16 57413656 57413656 20 ALL diagnosis snv FBN3 missense R166C NM_032447 10-PASHUI FBN3 MISSENSE SNP Somatic 11 0.389 SQHIGH 15 27 42 0 63 63 Cosmic_Gene G G A G G TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 84467 19 8209806 8209806 68 ALL diagnosis snv ZNF507 silent H266H NM_001136156 10-PASHUI ZNF507 SYNONYMOUS SNP Somatic 3 0.159 SQHIGH 6 30 36 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 22847 19 32844534 32844534 16 ALL diagnosis complex SH2B3 frameshift R398fs NM_005475 10-PASHUI SH2B3 FRAMESHIFT Sub Somatic -4 0.377 SQHIGH 52 12 64 0 55 55 Cosmic_Gene CG CG CTC CG CG TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 10019 12 111885304 111885305 218 ALL diagnosis snv SLC4A3 silent A989A NM_005070 10-PASIIK SLC4A3 SYNONYMOUS SNP dbsnp.134:rs142834384 Somatic PFAM:PF00955:HCO3_cotransp 12 0.359 SQHIGH 15 31 46 0 62 62 Cosmic_Gene C C T C C TARGET-10-PASIIK-03A-01D TARGET-10-PASIIK-10A-01D 6508 2 220503535 220503535 62 ALL diagnosis snv SLC22A14 missense L548F NM_004803 10-PASIIK SLC22A14 MISSENSE SNP Somatic -1 0.088 SQHIGH 4 23 27 0 31 31 A A T A A TARGET-10-PASIIK-03A-01D TARGET-10-PASIIK-10A-01D 9389 3 38357926 38357926 14 ALL diagnosis snv ANTXRL silent G148G NM_001278688 10-PASIIK ANTXRL UTR SNP Somatic 9 0.246 SQHIGH 12 30 42 2 39 41 T T A T T TARGET-10-PASIIK-03A-01D TARGET-10-PASIIK-10A-01D 195977 10 47667306 47667306 24 ALL diagnosis snv PPP1R13B missense R326C NM_015316 10-PASIIK PPP1R13B MISSENSE SNP Somatic 0 0.096 SQHIGH 8 36 44 0 65 65 Cosmic_Gene G G A G G TARGET-10-PASIIK-03A-01D TARGET-10-PASIIK-10A-01D 23368 14 104212884 104212884 33 ALL diagnosis snv TMEM63B missense V495I NM_018426 10-PASKHT TMEM63B MISSENSE SNP Somatic PFAM:PF02714:DUF221 12 0.450 SQHIGH 27 38 65 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-03A-01D TARGET-10-PASKHT-10A-01D 55362 6 44117665 44117665 87 ALL diagnosis snv MOB3B missense E195D NM_024761 10-PASKHT MOB3B MISSENSE SNP Somatic PFAM:PF03637:Mob1_phocein 2 0.118 SQHIGH 13 51 64 0 65 65 C C A C C TARGET-10-PASKHT-03A-01D TARGET-10-PASKHT-10A-01D 79817 9 27359068 27359068 43 ALL diagnosis snv COL27A1 missense V523I NM_032888 10-PASKHT COL27A1 MISSENSE SNP dbsnp.134:rs143993841 Somatic -5 0.057 SQHIGH 10 37 47 1 49 50 Cosmic_Gene G G A G G TARGET-10-PASKHT-03A-01D TARGET-10-PASKHT-10A-01D 85301 9 116931402 116931402 26 ALL diagnosis snv RALGDS missense P279L NM_006266 10-PASKHT RALGDS MISSENSE SNP Somatic -8 0.045 SQHIGH 3 6 9 0 19 19 Cosmic_Gene G G A G G TARGET-10-PASKHT-03A-01D TARGET-10-PASKHT-10A-01D 5900 9 135983736 135983736 16 ALL diagnosis snv DOCK6 missense P605L NM_020812 10-PASKHT DOCK6|C19orf80 MISSENSE|TSS-UPSTREAM SNP Somatic -9 0.040 SQHIGH 8 38 46 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASKHT-03A-01D TARGET-10-PASKHT-10A-01D 57572|55908 19 11348739 11348739 24 ALL relapse snv TMEM240 silent Y64Y NM_001114748 10-PASKHT TMEM240 SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 16 37 53 0 23 23 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 339453 1 1471150 1471150 29 ALL relapse snv MIB2 silent S679S NM_080875 10-PASKHT MIB2|MMP23B SYNONYMOUS,UTR|TSS-UPSTREAM SNP Somatic -7 0.055 SQHIGH 7 16 23 0 15 15 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 142678|8510 1 1563410 1563410 17 ALL relapse snv MEGF6 missense R717Q NM_001409 10-PASKHT MEGF6 MISSENSE SNP Somatic 17 0.911 SQHIGH 12 15 27 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1953 1 3421810 3421810 58 ALL relapse snv TP73 silent R599R NM_005427 10-PASKHT TP73 UTR3,SYNONYMOUS SNP Somatic -2 0.086 SQHIGH 28 25 53 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7161 1 3649529 3649529 69 ALL relapse snv AJAP1 silent T369T NM_018836 10-PASKHT AJAP1 SYNONYMOUS SNP Somatic 8 0.291 SQHIGH 24 28 52 0 36 36 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55966 1 4832529 4832529 67 ALL relapse snv NPHP4 silent P831P NM_015102 10-PASKHT NPHP4 SYNONYMOUS SNP Somatic 10 0.372 SQHIGH 32 47 79 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 261734 1 5940292 5940292 83 ALL relapse snv NPHP4 missense R807H NM_015102 10-PASKHT NPHP4 MISSENSE SNP Somatic 5 0.200 SQHIGH 26 36 62 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 261734 1 5947411 5947411 64 ALL relapse snv TNFRSF25 silent D38D NM_148965 10-PASKHT TNFRSF25 SYNONYMOUS SNP Somatic PFAM:PF00020:TNFR_c6 9 0.329 SQHIGH 23 44 67 0 69 69 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8718 1 6525546 6525546 81 ALL relapse snv PHF13 silent D227D NM_153812 10-PASKHT THAP3|PHF13 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 22 36 58 0 43 43 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 90326|148479 1 6681475 6681475 62 ALL relapse snv DNAJC11 missense P517L NM_018198 10-PASKHT DNAJC11 MISSENSE SNP Somatic PFAM:PF11875:DUF3395 -5 0.064 SQHIGH 12 76 88 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55735 1 6696281 6696281 27 ALL relapse snv CAMTA1 missense R284C NM_015215 10-PASKHT CAMTA1 MISSENSE SNP Somatic 10 0.372 SQHIGH 26 38 64 0 66 66 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23261 1 7723457 7723457 94 ALL relapse snv RERE missense P814L NM_012102 10-PASKHT RERE MISSENSE SNP Somatic 5 0.200 SQHIGH 26 34 60 0 65 65 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 473 1 8421126 8421126 99 ALL relapse snv C1orf127 missense G331R NM_001170754 10-PASKHT C1orf127 MISSENSE SNP Somatic 14 0.630 SQHIGH 22 23 45 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 148345 1 11014184 11014184 58 ALL relapse snv EXOSC10 missense R221Q NM_001001998 10-PASKHT EXOSC10 MISSENSE SNP Somatic 1 0.118 SQHIGH 13 37 50 2 39 42 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5394 1 11150707 11150707 22 ALL relapse snv PTCHD2 missense R294C NM_020780 10-PASKHT PTCHD2 MISSENSE SNP Somatic 2 0.134 SQHIGH 14 19 33 1 23 24 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57540 1 11561929 11561929 30 ALL relapse snv VPS13D missense A3914T NM_015378 10-PASKHT VPS13D MISSENSE SNP dbsnp.134:rs140805551 Somatic 5 0.200 SQHIGH 14 37 51 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55187 1 12460343 12460343 50 ALL relapse snv VWA5B1 missense A17V NM_001039500 10-PASKHT VWA5B1 MISSENSE SNP Somatic 7 0.259 SQHIGH 22 31 53 0 55 55 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 127731 1 20637144 20637144 80 ALL relapse snv EIF4G3 nonsense R1123* NM_003760 10-PASKHT EIF4G3 NONSENSE SNP Somatic 13 0.549 SQHIGH 26 22 48 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8672 1 21180069 21180069 95 ALL relapse snv EPHA8 missense R292C NM_020526 10-PASKHT EPHA8 MISSENSE SNP Somatic 12 0.482 SQHIGH 12 22 34 0 36 36 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2046 1 22913023 22913023 43 ALL relapse snv EPHA8 silent S381S NM_020526 10-PASKHT EPHA8 SYNONYMOUS SNP Somatic PFAM:PF00041:fn3 1 0.118 SQHIGH 19 15 34 0 22 22 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2046 1 22915527 22915527 54 ALL relapse snv ZNF436 missense R136H NM_001077195 10-PASKHT ZNF436 MISSENSE SNP dbsnp.134:rs149088374 Somatic 9 0.329 SQHIGH 20 33 53 1 50 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 80818 1 23689468 23689468 57 ALL relapse snv E2F2 silent P273P NM_004091 10-PASKHT E2F2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 25 37 62 0 70 70 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1870 1 23845541 23845541 96 ALL relapse snv MYOM3 splice_region R657_E16splice_region NM_152372 10-PASKHT MYOM3 DONOR SNP Somatic 7 0.259 SQHIGH 23 39 62 0 61 61 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 127294 1 24410954 24410954 79 ALL relapse snv IL22RA1 missense G233R NM_021258 10-PASKHT IL22RA1 MISSENSE SNP Somatic 8 0.291 SQHIGH 23 33 56 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 58985 1 24449887 24449887 77 ALL relapse snv FAM76A missense D145N NM_001143912 10-PASKHT FAM76A INTRON,MISSENSE SNP Somatic 11 0.425 SQHIGH 15 29 44 0 41 41 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 199870 1 28060671 28060671 49 ALL relapse snv COL16A1 missense G407R NM_001856 10-PASKHT COL16A1 MISSENSE SNP Somatic 8 0.291 SQHIGH 24 31 55 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1307 1 32157644 32157644 82 ALL relapse snv KIAA1522 missense R961Q NM_020888 10-PASKHT KIAA1522 INTRON,MISSENSE SNP Somatic 9 0.329 SQHIGH 12 32 44 1 40 41 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57648 1 33237662 33237662 29 ALL relapse snv SFPQ missense R365H NM_005066 10-PASKHT SFPQ MISSENSE SNP Somatic 5 0.200 SQHIGH 20 42 62 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6421 1 35656520 35656520 53 ALL relapse snv AGO1 missense R88H NM_012199 10-PASKHT AGO1 MISSENSE SNP Somatic 6 0.229 SQHIGH 19 35 54 1 55 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26523 1 36358211 36358211 56 ALL relapse snv COL9A2 missense R198H NM_001852 10-PASKHT COL9A2 MISSENSE SNP Somatic 2 0.134 SQHIGH 30 27 57 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1298 1 40776802 40776802 90 ALL relapse snv SZT2 missense V3136M NM_015284 10-PASKHT SZT2 MISSENSE SNP Somatic 11 0.425 SQHIGH 15 32 47 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23334 1 43913763 43913763 46 ALL relapse snv KLF17 nonsense R4* NM_173484 10-PASKHT KLF17 NONSENSE SNP Somatic 7 0.259 SQHIGH 13 21 34 0 18 18 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 128209 1 44584589 44584589 28 ALL relapse snv RAD54L missense R738C NM_003579 10-PASKHT RAD54L MISSENSE SNP Somatic 15 0.748 SQHIGH 25 28 53 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8438 1 46743922 46743922 74 ALL relapse snv SLC1A7 missense V106M NM_006671 10-PASKHT SLC1A7 MISSENSE SNP dbsnp.134:rs140456478 Somatic PFAM:PF00375:SDF 0 0.107 SQHIGH 33 64 97 2 80 82 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6512 1 53580545 53580545 78 ALL relapse snv ACOT11 missense R152C NM_015547 10-PASKHT ACOT11 MISSENSE SNP Somatic -3 0.077 SQHIGH 12 29 41 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26027 1 55059695 55059695 44 ALL relapse snv PPAP2B silent T241T NM_003713 10-PASKHT PPAP2B SYNONYMOUS SNP Somatic 15 0.748 SQHIGH 27 24 51 1 44 45 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8613 1 56977735 56977735 81 ALL relapse snv TM2D1 missense A66T NM_032027 10-PASKHT TM2D1 MISSENSE SNP Somatic 0 0.107 SQHIGH 4 9 13 0 20 20 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83941 1 62189427 62189427 18 ALL relapse snv INADL missense R130W NM_176877 10-PASKHT INADL MISSENSE SNP dbsnp.134:rs147150182 Somatic 5 0.200 SQHIGH 17 41 58 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10207 1 62234958 62234958 42 ALL relapse snv INADL missense A1021V NM_176877 10-PASKHT INADL MISSENSE SNP Somatic 14 0.630 SQHIGH 10 11 21 1 33 34 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10207 1 62350011 62350011 40 ALL relapse snv DIRAS3 silent C175C NM_004675 10-PASKHT DIRAS3|LOC100289178 SYNONYMOUS|INTRON SNP Somatic 15 0.748 SQHIGH 26 29 55 0 36 36 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9077|100289178 1 68512456 68512456 71 ALL relapse snv NEGR1-IT1 EXON E2_exon NM_173808 10-PASKHT NEGR1 INTRON SNP Somatic 17 0.911 SQHIGH 10 15 25 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 257194 1 72263819 72263819 47 ALL relapse snv MSH4 missense T410M NM_002440 10-PASKHT MSH4 MISSENSE SNP dbsnp.134:rs141042002 Somatic 11 0.425 SQHIGH 9 24 33 0 34 34 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4438 1 76313960 76313960 30 ALL relapse snv GIPC2 missense P24L NM_017655 10-PASKHT GIPC2 MISSENSE SNP Somatic 0 0.107 SQHIGH 20 28 48 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 54810 1 78511849 78511849 53 ALL relapse snv GBP1 missense V242I NM_002053 10-PASKHT GBP1 MISSENSE SNP dbsnp.134:rs143822672 Somatic 12 0.482 SQHIGH 16 27 43 0 40 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2633 1 89523825 89523825 53 ALL relapse snv GBP2 missense R390Q NM_004120 10-PASKHT GBP2 MISSENSE SNP Somatic PFAM:PF02841:GBP_C 4 0.169 SQHIGH 26 56 82 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2634 1 89578348 89578348 59 ALL relapse snv GBP4 silent A505A NM_052941 10-PASKHT GBP4 SYNONYMOUS SNP Somatic PFAM:PF02841:GBP_C -5 0.064 SQHIGH 24 53 77 0 51 51 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 115361 1 89652208 89652208 60 ALL relapse snv BARHL2 missense A81T NM_020063 10-PASKHT BARHL2 MISSENSE SNP Somatic 9 0.329 SQHIGH 18 24 42 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 343472 1 91182512 91182512 52 ALL relapse snv ABCA4 missense R220H NM_000350 10-PASKHT ABCA4 MISSENSE SNP Somatic 11 0.425 SQHIGH 20 27 47 0 36 36 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 24 1 94564459 94564459 59 ALL relapse snv SNX7 missense R181H NM_015976 10-PASKHT SNX7 INTRON,MISSENSE,UTR SNP Somatic -8 0.051 SQHIGH 13 7 20 0 12 12 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51375 1 99157158 99157158 37 ALL relapse snv AGL silent A637A NM_000642 10-PASKHT AGL SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 14 29 43 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 178 1 100346643 100346643 39 ALL relapse snv NTNG1 silent T200T NM_001113226 10-PASKHT NTNG1 SYNONYMOUS SNP Somatic PFAM:PF00055:Laminin_N 11 0.425 SQHIGH 22 33 55 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 22854 1 107867257 107867257 79 ALL relapse snv PTGFRN missense V393M NM_020440 10-PASKHT PTGFRN MISSENSE SNP Somatic 2 0.134 SQHIGH 13 34 47 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5738 1 117492158 117492158 34 ALL relapse snv WARS2 silent S260S NM_015836 10-PASKHT WARS2 UTR3,SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 13 35 48 1 49 50 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10352 1 119575837 119575837 35 ALL relapse snv HSD3B1 silent N170N NM_000862 10-PASKHT HSD3B1 SYNONYMOUS SNP dbsnp.126:rs34885782 Somatic PFAM:PF01073:3Beta_HSD 11 0.425 SQHIGH 36 30 66 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3283 1 120056656 120056656 110 ALL relapse snv HRNR silent S314S NM_001009931 10-PASKHT HRNR SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 20 30 50 0 36 36 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 388697 1 152193163 152193163 56 ALL relapse snv CRTC2 silent A439A NM_181715 10-PASKHT CRTC2|DENND4B SYNONYMOUS|TSS-UPSTREAM SNP Somatic 11 0.425 SQHIGH 14 23 37 0 27 27 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 200186|9909 1 153923823 153923823 39 ALL relapse snv RAB13 missense R79H NM_002870 10-PASKHT RAB13 MISSENSE SNP dbsnp.134:rs141658268 Somatic 5 0.200 SQHIGH 18 34 52 0 49 49 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5872 1 153956007 153956007 59 ALL relapse snv IL6R missense A351V NM_000565 10-PASKHT IL6R MISSENSE SNP Somatic -1 0.095 SQHIGH 12 32 44 1 37 38 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3570 1 154422442 154422442 27 ALL relapse snv ADAR missense R467H NM_001111 10-PASKHT ADAR MISSENSE SNP Somatic 5 0.200 SQHIGH 23 56 79 1 80 81 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 103 1 154573718 154573718 67 ALL relapse snv MUC1 silent S158S NM_002456 10-PASKHT MUC1|MIR92B SYNONYMOUS,INTRON|TSS-UPSTREAM SNP Somatic PFAM:PF01390:SEA -2 0.086 SQHIGH 10 43 53 2 52 54 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4582|693235 1 155160199 155160199 19 ALL relapse snv GON4L missense T76A NM_001282856 10-PASKHT GON4L MISSENSE SNP Somatic 17 0.911 SQHIGH 36 32 68 0 66 66 Cosmic_Gene T T C T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 54856 1 155823346 155823346 134 ALL relapse snv CD1A splice_region G20_E2splice_region NM_001763 10-PASKHT CD1A ACCEPTOR SNP Somatic 15 0.748 SQHIGH 35 35 70 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 909 1 158224870 158224870 108 ALL relapse snv CD1E missense R252Q NM_030893 10-PASKHT CD1E INTRON,MISSENSE SNP Somatic PFAM:PF00047:ig 16 0.814 SQHIGH 14 25 39 1 37 38 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 913 1 158325746 158325746 38 ALL relapse snv PYHIN1 missense A217T NM_152501 10-PASKHT PYHIN1 MISSENSE SNP Somatic PFAM:PF02760:HIN 16 0.814 SQHIGH 29 20 49 0 54 54 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 149628 1 158911836 158911836 121 ALL relapse snv FCRL6 missense V390M NM_001004310 10-PASKHT FCRL6 MISSENSE SNP Somatic 1 0.118 SQHIGH 16 30 46 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 343413 1 159785238 159785238 55 ALL relapse snv ATP1A4 splice_region G864_E17splice_region NM_144699 10-PASKHT ATP1A4 TSS-UPSTREAM,DONOR SNP Somatic 0 0.107 SQHIGH 14 45 59 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 480 1 160146396 160146396 37 ALL relapse snv SLC19A2 missense T405M NM_006996 10-PASKHT SLC19A2 MISSENSE SNP Somatic PFAM:PF01770:Folate_carrier 3 0.149 SQHIGH 11 34 45 0 40 40 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10560 1 169437891 169437891 33 ALL relapse snv FMO1 missense H46L NM_002021 10-PASKHT FMO1 MISSENSE SNP Somatic PFAM:PF00743:FMO-like 2 0.134 SQHIGH 12 40 52 0 49 49 Cosmic_Gene A A T A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2326 1 171236686 171236686 38 ALL relapse snv PRRC2C missense D861G NM_015172 10-PASKHT PRRC2C MISSENSE SNP Somatic 5 0.200 SQHIGH 16 39 55 0 38 38 A A G A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23215 1 171509193 171509193 41 ALL relapse snv PRRC2C missense A2677T NM_015172 10-PASKHT PRRC2C MISSENSE SNP Somatic -8 0.051 SQHIGH 6 34 40 0 43 43 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23215 1 171556853 171556853 20 ALL relapse snv SLC9C2 silent T1108T NM_178527 10-PASKHT SLC9C2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 18 45 63 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 284525 1 173472452 173472452 44 ALL relapse snv LHX4-AS1 EXON E3_exon NM_033343 10-PASKHT LOC100527964|LHX4 UTR|INTRON SNP Somatic 4 0.169 SQHIGH 20 40 60 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100527964|89884 1 180240397 180240397 44 ALL relapse snv ZNF648 silent S461S NM_001009992 10-PASKHT ZNF648 SYNONYMOUS SNP Somatic -2 0.086 SQHIGH 19 32 51 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 127665 1 182025763 182025763 43 ALL relapse snv RGS16 silent A154A NM_002928 10-PASKHT RGS16 SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 18 82 100 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6004 1 182569574 182569574 33 ALL relapse snv HMCN1 missense R2360C NM_031935 10-PASKHT HMCN1 MISSENSE SNP Somatic PFAM:PF00047:ig 5 0.200 SQHIGH 28 32 60 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83872 1 186024740 186024740 55 ALL relapse snv HMCN1 missense G3974V NM_031935 10-PASKHT HMCN1 MISSENSE SNP Somatic PFAM:PF00047:ig 6 0.229 SQHIGH 19 51 70 0 49 49 Cosmic_Gene G G T G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83872 1 186088395 186088395 49 ALL relapse snv ZBTB41 missense R381H NM_194314 10-PASKHT ZBTB41 MISSENSE SNP Somatic -4 0.070 SQHIGH 15 43 58 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 360023 1 197161008 197161008 32 ALL relapse snv CACNA1S missense R986C NM_000069 10-PASKHT CACNA1S MISSENSE SNP Somatic PFAM:PF00520:Ion_trans -1 0.095 SQHIGH 43 116 159 1 64 65 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 779 1 201031169 201031169 60 ALL relapse snv LAMB3 missense R1143H NM_000228 10-PASKHT LAMB3 MISSENSE SNP Somatic 0 0.107 SQHIGH 16 42 59 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3914 1 209788707 209788707 42 ALL relapse snv HHAT nonsense R4* NM_018194 10-PASKHT HHAT INTRON,NONSENSE SNP Somatic 0 0.107 SQHIGH 35 77 112 2 85 87 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55733 1 210522329 210522329 77 ALL relapse snv KCNK2 missense R43W NM_001017424 10-PASKHT KCNK2 MISSENSE SNP Somatic 1 0.118 SQHIGH 34 100 134 0 64 64 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3776 1 215259803 215259803 65 ALL relapse snv USH2A missense A569T NM_007123 10-PASKHT USH2A MISSENSE SNP dbsnp.134:rs138739049 Somatic -8 0.051 SQHIGH 16 60 76 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7399 1 216465652 216465652 34 ALL relapse snv SUSD4 missense G371S NM_017982 10-PASKHT SUSD4 MISSENSE SNP Somatic -2 0.086 SQHIGH 27 52 79 0 37 37 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55061 1 223396924 223396924 53 ALL relapse snv WNT3A missense V66M NM_033131 10-PASKHT WNT3A MISSENSE SNP Somatic PFAM:PF00110:wnt -9 0.047 SQHIGH 19 70 89 1 62 63 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 89780 1 228210492 228210492 38 ALL relapse snv OBSCN silent L5469L NM_052843 10-PASKHT OBSCN SYNONYMOUS SNP Somatic 0 0.107 SQHIGH 31 106 137 0 77 77 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84033 1 228523493 228523493 66 ALL relapse snv OBSCN missense E6692K NM_001098623 10-PASKHT OBSCN MISSENSE SNP Somatic -4 0.070 SQHIGH 11 61 72 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84033 1 228557749 228557749 21 ALL relapse snv OBSCN missense G7681C NM_001098623 10-PASKHT OBSCN MISSENSE SNP Somatic 5 0.200 SQHIGH 22 46 68 0 49 49 Cosmic_Gene G G T G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84033 1 228564754 228564754 59 ALL relapse snv PGBD5 splice_region G425_E5splice_region NM_001258311 10-PASKHT PGBD5 INTRON SNP Somatic 1 0.118 SQHIGH 13 26 39 0 25 25 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79605 1 230468582 230468582 32 ALL relapse snv TRIM67 silent N760N NM_001004342 10-PASKHT TRIM67 SYNONYMOUS SNP Somatic PFAM:PF00622:SPRY -2 0.086 SQHIGH 12 55 67 0 67 67 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 440730 1 231349717 231349717 38 ALL relapse snv SIPA1L2 silent S286S NM_020808 10-PASKHT SIPA1L2 SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 29 68 97 0 59 59 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57568 1 232650228 232650228 68 ALL relapse snv NID1 missense P918L NM_002508 10-PASKHT NID1 MISSENSE SNP Somatic 5 0.200 SQHIGH 20 36 56 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4811 1 236156947 236156947 46 ALL relapse snv FMN2 splice_region G539_E1splice_region NM_020066 10-PASKHT FMN2 INTRON SNP Somatic -3 0.077 SQHIGH 10 22 32 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56776 1 240257032 240257032 25 ALL relapse snv KIF26B silent G626G NM_018012 10-PASKHT KIF26B SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 26 47 73 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55083 1 245772794 245772794 66 ALL relapse snv OR6F1 silent T240T NM_001005286 10-PASKHT OR6F1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 0 0.107 SQHIGH 20 75 95 0 55 55 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 343169 1 247875338 247875338 43 ALL relapse snv SH3BP5L missense R121Q NM_030645 10-PASKHT SH3BP5L MISSENSE SNP Somatic PFAM:PF05276:SH3BP5 0 0.107 SQHIGH 32 89 121 1 51 52 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 80851 1 249110746 249110746 45 ALL relapse snv ROCK2 missense A1013T NM_004850 10-PASKHT ROCK2 MISSENSE SNP Somatic PFAM:PF08912:Rho_Binding -5 0.064 SQHIGH 6 11 17 0 17 17 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9475 2 11338679 11338679 20 ALL relapse snv GREB1 missense E109K NM_014668 10-PASKHT GREB1 MISSENSE SNP Somatic 13 0.549 SQHIGH 32 42 74 0 61 61 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9687 2 11706653 11706653 101 ALL relapse snv VSNL1 nonsense R150* NM_003385 10-PASKHT VSNL1 NONSENSE SNP Somatic 6 0.229 SQHIGH 23 46 69 1 54 55 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7447 2 17836533 17836533 56 ALL relapse snv DRC1 missense R35C NM_145038 10-PASKHT DRC1 MISSENSE SNP Somatic 8 0.291 SQHIGH 34 32 66 2 41 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 92749 2 26624960 26624960 71 ALL relapse snv EMILIN1 missense V755M NM_007046 10-PASKHT EMILIN1|KHK MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs140235524 Somatic -5 0.064 SQHIGH 11 41 52 0 39 39 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11117|3795 2 27306702 27306702 29 ALL relapse snv CAD missense A1114T NM_004341 10-PASKHT CAD MISSENSE SNP Somatic PFAM:PF02786:CPSase_L_D2 -2 0.086 SQHIGH 21 13 34 0 19 19 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 790 2 27456617 27456617 55 ALL relapse snv BIRC6 missense R1030H NM_016252 10-PASKHT BIRC6 MISSENSE SNP Somatic -3 0.077 SQHIGH 14 16 30 0 28 28 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57448 2 32655999 32655999 48 ALL relapse snv TTC27 missense R392Q NM_017735 10-PASKHT TTC27 MISSENSE SNP Somatic 20 1.000 SQHIGH 17 17 34 0 42 42 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55622 2 32927929 32927929 72 ALL relapse snv TTC27 missense S526N NM_017735 10-PASKHT TTC27 MISSENSE SNP Somatic 11 0.425 SQHIGH 21 28 49 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55622 2 32983483 32983483 57 ALL relapse snv FAM98A missense A28V NM_015475 10-PASKHT FAM98A MISSENSE SNP Somatic PFAM:PF10239:DUF2465 11 0.425 SQHIGH 9 6 15 0 21 21 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 25940 2 33820675 33820675 43 ALL relapse snv CYP1B1 nonsense R444* NM_000104 10-PASKHT CYP1B1 NONSENSE SNP Somatic PFAM:PF00067:p450 13 0.549 SQHIGH 47 35 82 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1545 2 38298167 38298167 131 ALL relapse snv CYP1B1 missense R124C NM_000104 10-PASKHT CYP1B1 MISSENSE SNP Somatic PFAM:PF00067:p450 10 0.372 SQHIGH 15 17 32 0 25 25 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1545 2 38302162 38302162 46 ALL relapse snv SLC8A1 missense R613H NM_001112801 10-PASKHT LOC100128590|SLC8A1 INTRON|INTRON,MISSENSE SNP dbsnp.52:rs5556 Somatic PFAM:PF03160:Calx-beta 16 0.814 SQHIGH 51 18 69 0 55 55 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100128590|6546 2 40404966 40404966 191 ALL relapse snv MSH6 nonsense W365* NM_000179 10-PASKHT MSH6 NONSENSE SNP Somatic 5 0.200 SQHIGH 22 51 73 0 66 66 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2956 2 48026216 48026216 69 ALL relapse snv GTF2A1L missense G353S NM_006872 10-PASKHT GTF2A1L|STON1-GTF2A1L MISSENSE|MISSENSE SNP Somatic PFAM:PF03153:TFIIA -5 0.064 SQHIGH 7 23 30 1 33 34 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11036|286749 2 48896939 48896939 18 ALL relapse snv CCDC85A missense P484L NM_001080433 10-PASKHT CCDC85A MISSENSE SNP Somatic -7 0.055 SQHIGH 8 44 52 1 63 64 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 114800 2 56599612 56599612 22 ALL relapse snv GFPT1 missense V273I NM_002056 10-PASKHT GFPT1 MISSENSE SNP Somatic 12 0.482 SQHIGH 18 28 46 0 54 54 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2673 2 69575441 69575441 70 ALL relapse snv DYSF nonsense R1056* NM_001130987 10-PASKHT DYSF NONSENSE SNP Somatic 10 0.372 SQHIGH 43 42 85 1 46 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8291 2 71797809 71797809 92 ALL relapse snv FBXO41 missense A209T NM_001080410 10-PASKHT FBXO41 MISSENSE SNP Somatic 6 0.229 SQHIGH 15 12 27 0 19 19 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 150726 2 73496134 73496134 45 ALL relapse snv ALMS1 silent S1394S NM_015120 10-PASKHT ALMS1 SYNONYMOUS SNP Somatic -1 0.095 SQHIGH 10 37 47 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7840 2 73677839 73677839 24 ALL relapse snv CTNNA2 silent T323T NM_004389 10-PASKHT CTNNA2 SYNONYMOUS SNP Somatic PFAM:PF01044:Vinculin 11 0.425 SQHIGH 20 21 41 1 30 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1496 2 80136836 80136836 50 ALL relapse snv NCAPH missense S707P NM_015341 10-PASKHT NCAPH MISSENSE SNP Somatic PFAM:PF05786:Cnd2 4 0.169 SQHIGH 23 3 26 0 29 29 Cosmic_Gene T C C T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23397 2 97035191 97035191 119 ALL relapse snv AFF3 missense R653Q NM_002285 10-PASKHT AFF3 MISSENSE SNP Somatic PFAM:PF05110:AF-4 1 0.118 SQHIGH 17 43 60 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3899 2 100210165 100210165 47 ALL relapse snv IL1R2 splice_region K171_E4splice_region NM_004633 10-PASKHT IL1R2 DONOR SNP Somatic -9 0.047 SQHIGH 7 26 33 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7850 2 102632517 102632517 21 ALL relapse snv IL1R1 missense R211W NM_000877 10-PASKHT IL1R1 MISSENSE SNP Somatic 6 0.229 SQHIGH 16 16 32 0 23 23 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3554 2 102782717 102782717 47 ALL relapse snv SLC9A4 missense R630H NM_001011552 10-PASKHT SLC9A4 MISSENSE SNP Somatic 3 0.149 SQHIGH 16 40 56 0 47 47 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 389015 2 103141553 103141553 47 ALL relapse snv TGFBRAP1 missense R522C NM_004257 10-PASKHT TGFBRAP1 MISSENSE SNP Somatic PFAM:PF10366:Vps39_1 -1 0.095 SQHIGH 14 19 33 1 21 22 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9392 2 105892118 105892118 28 ALL relapse snv ST6GAL2 silent T267T NM_032528 10-PASKHT ST6GAL2 SYNONYMOUS SNP Somatic PFAM:PF00777:Glyco_transf_29 7 0.259 SQHIGH 16 17 33 0 30 30 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84620 2 107459633 107459633 55 ALL relapse snv IL1A missense V182M NM_000575 10-PASKHT IL1A MISSENSE SNP Somatic 2 0.134 SQHIGH 21 39 60 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3552 2 113535635 113535635 55 ALL relapse snv NCKAP5 missense R106H NM_207363 10-PASKHT NCKAP5 MISSENSE SNP Somatic 10 0.372 SQHIGH 15 26 41 0 48 48 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 344148 2 133887574 133887574 58 ALL relapse snv ZEB2 missense Q1072R NM_014795 10-PASKHT ZEB2 MISSENSE SNP Somatic 10 0.372 SQHIGH 24 28 52 0 48 48 Cosmic_Gene T T C T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9839 2 145147448 145147448 83 ALL relapse snv RPRM missense R95Q NM_019845 10-PASKHT RPRM MISSENSE SNP Somatic 13 0.549 SQHIGH 20 14 34 0 34 34 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56475 2 154334796 154334796 78 ALL relapse snv RPRM missense V64M NM_019845 10-PASKHT RPRM MISSENSE SNP Somatic 6 0.229 SQHIGH 20 34 54 0 59 59 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56475 2 154334890 154334890 74 ALL relapse snv RPRM missense G40S NM_019845 10-PASKHT RPRM MISSENSE SNP Somatic 7 0.259 SQHIGH 21 16 37 0 19 19 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56475 2 154334962 154334962 50 ALL relapse snv PLA2R1 missense R194H NM_007366 10-PASKHT PLA2R1 MISSENSE SNP Somatic 6 0.229 SQHIGH 22 37 59 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 22925 2 160898622 160898622 66 ALL relapse snv DPP4 silent A16A NM_001935 10-PASKHT DPP4 SYNONYMOUS SNP dbsnp.134:rs148524083 Somatic 0 0.107 SQHIGH 19 13 32 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1803 2 162929955 162929955 71 ALL relapse snv FAP silent L584L NM_004460 10-PASKHT FAP SYNONYMOUS SNP Somatic PFAM:PF06342:DUF1057 14 0.630 SQHIGH 37 33 70 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2191 2 163044741 163044741 114 ALL relapse snv XIRP2 missense G2809R NM_152381 10-PASKHT XIRP2 INTRON,MISSENSE SNP Somatic 4 0.169 SQHIGH 28 44 72 0 58 58 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 129446 2 168106327 168106327 85 ALL relapse snv XIRP2 missense I3012K NM_152381 10-PASKHT XIRP2 INTRON,MISSENSE SNP Somatic -10 0.043 SQHIGH 7 55 62 0 63 63 Cosmic_Gene T T A T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 129446 2 168106937 168106937 22 ALL relapse snv XIRP2 missense A3258T NM_152381 10-PASKHT XIRP2 INTRON,MISSENSE SNP Somatic 2 0.134 SQHIGH 28 53 81 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 129446 2 168107674 168107674 69 ALL relapse snv TTN missense G26436S NM_133378 10-PASKHT TTN|LOC100506866 MISSENSE|INTRON SNP Somatic 7 0.259 SQHIGH 23 42 65 1 65 66 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7273|100506866 2 179423176 179423176 69 ALL relapse snv TTN missense A24161V NM_133378 10-PASKHT TTN|LOC100506866 MISSENSE|INTRON SNP Somatic 12 0.482 SQHIGH 32 45 77 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7273|100506866 2 179430673 179430673 96 ALL relapse snv TTN silent H22805H NM_133378 10-PASKHT TTN|LOC100506866 SYNONYMOUS|INTRON SNP Somatic -1 0.095 SQHIGH 10 42 52 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7273|100506866 2 179434740 179434740 24 ALL relapse snv TTN silent A14302A NM_133378 10-PASKHT TTN|LOC100506866 SYNONYMOUS|INTRON SNP Somatic 15 0.748 SQHIGH 40 36 76 1 57 58 Cosmic_Gene G G T G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7273|100506866 2 179476346 179476346 111 ALL relapse snv TTN nonsense E13639* NM_133378 10-PASKHT TTN|LOC100506866 NONSENSE|UTR SNP Somatic 17 0.911 SQHIGH 29 32 61 0 57 57 Cosmic_Gene C C A C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7273|100506866 2 179480053 179480053 102 ALL relapse snv TTN missense R8749Q NM_133378 10-PASKHT TTN INTRON,MISSENSE SNP Somatic PFAM:PF00047:ig 5 0.200 SQHIGH 19 33 52 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7273 2 179569119 179569119 61 ALL relapse snv TTN missense A3744T NM_001256850 10-PASKHT TTN INTRON,MISSENSE SNP Somatic 4 0.169 SQHIGH 18 40 58 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7273 2 179605779 179605779 49 ALL relapse snv TTN missense T2256M NM_133378 10-PASKHT TTN|LOC100506892 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00047:ig -2 0.086 SQHIGH 11 18 29 0 16 16 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7273|100506892 2 179639671 179639671 25 ALL relapse snv TTN missense A2015V NM_133378 10-PASKHT TTN|LOC100506892 MISSENSE|TSS-UPSTREAM SNP Somatic -2 0.086 SQHIGH 13 50 63 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7273|100506892 2 179640547 179640547 38 ALL relapse snv CCDC150 missense R1033C NM_001080539 10-PASKHT CCDC150 MISSENSE SNP Somatic 5 0.200 SQHIGH 21 42 63 1 52 53 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 284992 2 197596784 197596784 53 ALL relapse snv BMPR2 silent S995S NM_001204 10-PASKHT BMPR2 SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 13 38 51 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 659 2 203424537 203424537 43 ALL relapse snv ADAM23 silent S430S NM_003812 10-PASKHT ADAM23 SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 13 37 50 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8745 2 207426962 207426962 41 ALL relapse snv FZD5 missense R193H NM_003468 10-PASKHT FZD5 MISSENSE SNP Somatic 12 0.482 SQHIGH 24 29 53 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7855 2 208632886 208632886 61 ALL relapse snv PLEKHM3 silent S610S NM_001080475 10-PASKHT PLEKHM3 SYNONYMOUS SNP Somatic 18 0.949 SQHIGH 17 17 34 0 23 23 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 389072 2 208795706 208795706 48 ALL relapse snv PIKFYVE missense R1284H NM_015040 10-PASKHT PIKFYVE MISSENSE SNP Somatic -5 0.064 SQHIGH 8 30 38 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 200576 2 209195306 209195306 32 ALL relapse snv ERBB4 missense R1304Q NM_005235 10-PASKHT ERBB4 MISSENSE SNP Somatic 3 0.149 SQHIGH 25 47 72 0 67 67 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2066 2 212248356 212248356 82 ALL relapse snv FN1 silent V916V NM_212482 10-PASKHT FN1 SYNONYMOUS SNP Somatic 18 0.949 SQHIGH 15 13 28 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2335 2 216271199 216271199 60 ALL relapse snv SLC11A1 nonsense R167* NM_000578 10-PASKHT SLC11A1 NONSENSE SNP Somatic PFAM:PF01566:Nramp 5 0.200 SQHIGH 25 36 61 0 52 52 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6556 2 219251463 219251463 79 ALL relapse snv GMPPA missense A4V NM_013335 10-PASKHT LOC100507611|GMPPA INTRON|MISSENSE SNP Somatic -8 0.051 SQHIGH 7 42 49 0 53 53 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100507611|29926 2 220364708 220364708 23 ALL relapse snv OBSL1 silent G1057G NM_015311 10-PASKHT OBSL1 SYNONYMOUS SNP Somatic PFAM:PF00047:ig 12 0.482 SQHIGH 29 23 52 0 32 32 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23363 2 220424002 220424002 79 ALL relapse snv NYAP2 silent Y87Y NM_020864 10-PASKHT NYAP2 SYNONYMOUS SNP Somatic 1 0.118 SQHIGH 13 54 67 1 50 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57624 2 226378126 226378126 26 ALL relapse snv DNER silent R54R NM_139072 10-PASKHT DNER SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 12 11 23 0 13 13 Cosmic_Gene C C A C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 92737 2 230578978 230578978 30 ALL relapse snv GIGYF2 silent Y43Y NM_001103147 10-PASKHT GIGYF2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 23 27 50 2 38 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26058 2 233612412 233612412 51 ALL relapse snv NEU2 silent A305A NM_005383 10-PASKHT NEU2 SYNONYMOUS SNP Somatic 15 0.748 SQHIGH 34 25 59 0 42 42 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4759 2 233899539 233899539 105 ALL relapse snv AGAP1 silent A478A NM_001037131 10-PASKHT AGAP1 SYNONYMOUS,INTRON SNP Somatic 6 0.229 SQHIGH 23 41 64 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 116987 2 236839518 236839518 55 ALL relapse snv COL6A3 missense A1819V NM_004369 10-PASKHT COL6A3 MISSENSE SNP Somatic 2 0.134 SQHIGH 32 50 82 0 73 73 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1293 2 238275374 238275374 104 ALL relapse snv MLPH silent L293L NM_024101 10-PASKHT MLPH SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 14 37 51 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79083 2 238434447 238434447 40 ALL relapse snv ESPNL missense R317W NM_194312 10-PASKHT ESPNL MISSENSE SNP Somatic -2 0.086 SQHIGH 10 39 49 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 339768 2 239025637 239025637 23 ALL relapse snv KLHL30 silent C231C NM_198582 10-PASKHT KLHL30 SYNONYMOUS SNP Somatic 8 0.291 SQHIGH 15 15 30 0 22 22 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 377007 2 239050088 239050088 45 ALL relapse snv HDAC4 missense R189Q NM_006037 10-PASKHT HDAC4 MISSENSE SNP Somatic 17 0.911 SQHIGH 22 25 47 0 40 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9759 2 240085544 240085544 72 ALL relapse snv SNED1 silent A377A NM_001080437 10-PASKHT SNED1 SYNONYMOUS SNP dbsnp.132:rs114600580 Somatic -7 0.055 SQHIGH 9 52 61 0 57 57 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 25992 2 241979577 241979577 27 ALL relapse snv CNTN4 silent Y742Y NM_175607 10-PASKHT CNTN4 SYNONYMOUS SNP Somatic 9 0.329 SQHIGH 24 33 57 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 152330 3 3081783 3081783 79 ALL relapse snv IL5RA silent S359S NM_000564 10-PASKHT IL5RA SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 24 31 55 1 52 53 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3568 3 3118229 3118229 72 ALL relapse snv CRBN silent P186P NM_016302 10-PASKHT CRBN SYNONYMOUS SNP Somatic PFAM:PF02190:LON 15 0.748 SQHIGH 22 25 47 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51185 3 3209447 3209447 86 ALL relapse snv ITPR1 missense V2172M NM_001099952 10-PASKHT ITPR1 MISSENSE SNP Somatic 6 0.229 SQHIGH 17 32 49 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3708 3 4829673 4829673 53 ALL relapse snv SLC6A6 silent T28T NM_003043 10-PASKHT SLC6A6 SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 20 41 61 1 55 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6533 3 14485226 14485226 53 ALL relapse snv SLC6A6 silent P68P NM_003043 10-PASKHT SLC6A6 SYNONYMOUS SNP Somatic PFAM:PF00209:SNF 6 0.229 SQHIGH 25 35 60 1 46 47 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6533 3 14485346 14485346 63 ALL relapse snv ZFYVE20 missense R180C NM_022340 10-PASKHT ZFYVE20 MISSENSE SNP Somatic 8 0.291 SQHIGH 16 29 45 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64145 3 15126302 15126302 58 ALL relapse snv LOC339862 splice S43S NM_001257177 10-PASKHT SNP Somatic 4 0.169 SQHIGH 22 42 64 1 42 43 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3 18055266 18055266 46 ALL relapse snv UBP1 silent T369T NM_014517 10-PASKHT UBP1 SYNONYMOUS SNP dbsnp.134:rs147751266 Somatic 14 0.630 SQHIGH 12 25 37 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7342 3 33441754 33441754 39 ALL relapse snv SCN5A silent I900I NM_198056 10-PASKHT SCN5A SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans 11 0.425 SQHIGH 26 32 58 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6331 3 38627269 38627269 87 ALL relapse snv COL7A1 splice_region G174_E4splice_region NM_000094 10-PASKHT COL7A1 INTRON SNP Somatic 15 0.748 SQHIGH 45 33 78 1 62 63 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1294 3 48630780 48630780 137 ALL relapse snv LAMB2 missense R395H NM_002292 10-PASKHT LAMB2 MISSENSE SNP Somatic 4 0.169 SQHIGH 25 46 71 0 49 49 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3913 3 49167705 49167705 66 ALL relapse snv NPRL2 missense A97T NM_006545 10-PASKHT NPRL2|CYB561D2|ZMYND10 MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic PFAM:PF06218:NPR2 18 0.949 SQHIGH 19 19 38 1 40 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10641|11068|51364 3 50387146 50387146 63 ALL relapse snv POC1A missense R149H NM_015426 10-PASKHT POC1A MISSENSE SNP Somatic 12 0.482 SQHIGH 41 45 86 0 65 65 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 25886 3 52183235 52183235 124 ALL relapse snv CHDH missense R126H NM_018397 10-PASKHT CHDH MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD -2 0.086 SQHIGH 10 23 33 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55349 3 53857659 53857659 34 ALL relapse snv LRTM1 nonsense R266* NM_020678 10-PASKHT CACNA2D3|LRTM1 INTRON|NONSENSE SNP Somatic -4 0.070 SQHIGH 11 42 53 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55799|57408 3 54952728 54952728 32 ALL relapse snv PTPRG missense G198R NM_002841 10-PASKHT PTPRG MISSENSE SNP Somatic 12 0.482 SQHIGH 14 19 33 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5793 3 62063909 62063909 61 ALL relapse snv PDZRN3 missense R215C NM_015009 10-PASKHT PDZRN3 MISSENSE SNP Somatic 13 0.549 SQHIGH 14 12 26 0 29 29 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23024 3 73673334 73673334 57 ALL relapse snv VGLL3 missense R143Q NM_016206 10-PASKHT VGLL3 MISSENSE SNP Somatic 5 0.200 SQHIGH 23 56 79 0 74 74 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 389136 3 87018249 87018249 74 ALL relapse snv BOC missense R629H NM_033254 10-PASKHT BOC MISSENSE SNP Somatic 6 0.229 SQHIGH 42 41 83 0 70 70 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 91653 3 112998168 112998168 140 ALL relapse snv ZBTB20 silent Y248Y NM_001164342 10-PASKHT ZBTB20-AS1|ZBTB20 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 16 0.814 SQHIGH 18 18 36 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100131117|26137 3 114070181 114070181 50 ALL relapse snv GAP43 silent A171A NM_001130064 10-PASKHT GAP43 SYNONYMOUS SNP Somatic PFAM:PF06614:Neuromodulin 10 0.372 SQHIGH 21 22 43 1 26 27 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2596 3 115395234 115395234 45 ALL relapse snv ADCY5 missense R1217H NM_183357 10-PASKHT ADCY5 MISSENSE SNP Somatic 4 0.169 SQHIGH 27 32 59 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 111 3 123005539 123005539 70 ALL relapse snv CCDC37 silent R125R NM_182628 10-PASKHT CCDC37 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 18 19 37 0 14 14 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 348807 3 126135308 126135308 32 ALL relapse snv PLXNA1 splice S666_E7splice NM_032242 10-PASKHT PLXNA1 DISRUPT SNP Somatic 14 0.630 SQHIGH 33 31 64 1 50 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5361 3 126725022 126725022 93 ALL relapse snv MGLL missense V227I NM_007283 10-PASKHT MGLL MISSENSE SNP Somatic 7 0.259 SQHIGH 11 26 37 0 28 28 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11343 3 127413955 127413955 30 ALL relapse snv COPG1 splice_region D133_E6splice_region NM_016128 10-PASKHT COPG INTRON SNP Somatic -1 0.095 SQHIGH 28 47 75 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 22820 3 128973594 128973594 65 ALL relapse snv H1FOO missense A192T NM_153833 10-PASKHT H1FOO MISSENSE SNP Somatic 2 0.134 SQHIGH 22 34 56 1 27 28 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 132243 3 129268039 129268039 36 ALL relapse snv COL6A6 missense G103R NM_001102608 10-PASKHT COL6A6 MISSENSE SNP Somatic 15 0.748 SQHIGH 28 24 52 1 68 69 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 131873 3 130282154 130282154 114 ALL relapse snv NCK1 missense R103C NM_006153 10-PASKHT NCK1 MISSENSE SNP Somatic 14 0.630 SQHIGH 11 17 28 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4690 3 136664505 136664505 42 ALL relapse snv CLSTN2 missense R768W NM_022131 10-PASKHT CLSTN2 MISSENSE SNP Somatic 4 0.169 SQHIGH 22 38 60 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64084 3 140281742 140281742 58 ALL relapse snv ZIC1 missense A25V NM_003412 10-PASKHT ZIC4|ZIC1 TSS-UPSTREAM|MISSENSE SNP Somatic 0 0.107 SQHIGH 6 14 20 0 18 18 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84107|7545 3 147127973 147127973 19 ALL relapse snv KCNAB1 splice C321_E12splice NM_172160 10-PASKHT KCNAB1 DISRUPT SNP Somatic -6 0.060 SQHIGH 16 39 55 1 38 39 Cosmic_Gene A A G A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7881 3 156241614 156241614 32 ALL relapse snv GOLIM4 missense R327H NM_014498 10-PASKHT GOLIM4 MISSENSE SNP Somatic -3 0.077 SQHIGH 11 46 57 1 60 61 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 27333 3 167750504 167750504 29 ALL relapse snv USP13 missense D471N NM_003940 10-PASKHT USP13 MISSENSE SNP Somatic 9 0.329 SQHIGH 28 33 61 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8975 3 179460015 179460015 80 ALL relapse snv TPRG1 silent P173P NM_198485 10-PASKHT TPRG1 SYNONYMOUS SNP dbsnp.134:rs138024891 Somatic PFAM:PF12456:hSac2 -4 0.070 SQHIGH 7 12 19 0 18 18 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 285386 3 189028214 189028214 23 ALL relapse snv TP63 splice P377_E8splice NM_003722 10-PASKHT TP63 DISRUPT SNP Somatic 8 0.291 SQHIGH 32 38 70 1 61 62 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8626 3 189586506 189586506 94 ALL relapse snv ACAP2 splice_region E372_E13splice_region NM_012287 10-PASKHT ACAP2 DONOR SNP Somatic -5 0.064 SQHIGH 9 13 22 0 21 21 Cosmic_Gene A A G A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23527 3 195027234 195027234 31 ALL relapse snv FGFRL1 missense V492M NM_001004356 10-PASKHT FGFRL1 MISSENSE SNP dbsnp.134:rs138327840 Somatic 6 0.229 SQHIGH 38 47 85 0 52 52 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 53834 4 1019094 1019094 97 ALL relapse snv HTT missense E221K NM_002111 10-PASKHT HTT MISSENSE SNP Somatic 11 0.425 SQHIGH 34 22 56 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3064 4 3109064 3109064 121 ALL relapse snv RGS12 missense R10H NM_198229 10-PASKHT RGS12 MISSENSE SNP Somatic 10 0.372 SQHIGH 15 33 48 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6002 4 3317926 3317926 40 ALL relapse snv HGFAC missense V547M NM_001528 10-PASKHT HGFAC MISSENSE SNP Somatic 11 0.425 SQHIGH 9 23 32 1 27 28 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3083 4 3449857 3449857 19 ALL relapse snv EVC missense R718Q NM_153717 10-PASKHT EVC MISSENSE SNP Somatic -10 0.043 SQHIGH 12 10 22 0 23 23 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2121 4 5800368 5800368 46 ALL relapse snv CRMP1 silent P428P NM_001014809 10-PASKHT CRMP1 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 28 31 59 0 39 39 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1400 4 5841275 5841275 77 ALL relapse snv QDPR silent A91A NM_000320 10-PASKHT QDPR SYNONYMOUS SNP Somatic 13 0.549 SQHIGH 30 28 58 0 67 67 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5860 4 17506024 17506024 124 ALL relapse snv KCNIP4 missense R11H NM_025221 10-PASKHT KCNIP4 INTRON,MISSENSE SNP Somatic 6 0.229 SQHIGH 16 25 41 0 27 27 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 80333 4 20884302 20884302 42 ALL relapse snv CCDC149 missense R150H NM_173463 10-PASKHT CCDC149 MISSENSE SNP Somatic PFAM:PF09789:DUF2353 13 0.549 SQHIGH 18 23 41 0 41 41 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 91050 4 24839818 24839818 65 ALL relapse snv CCDC149 silent G141G NM_173463 10-PASKHT CCDC149 SYNONYMOUS SNP Somatic PFAM:PF09789:DUF2353 5 0.200 SQHIGH 12 31 43 0 31 31 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 91050 4 24839844 24839844 32 ALL relapse snv ZCCHC4 missense R455H NM_024936 10-PASKHT ZCCHC4 MISSENSE SNP dbsnp.134:rs140336886 Somatic 1 0.118 SQHIGH 30 25 55 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 29063 4 25366746 25366746 98 ALL relapse snv NWD2 missense R1516H NM_001144990 10-PASKHT NWD2 MISSENSE SNP Somatic PFAM:PF00400:WD40 -5 0.064 SQHIGH 8 35 43 0 30 30 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57495 4 37448157 37448157 20 ALL relapse snv TBC1D1 silent A427A NM_015173 10-PASKHT TBC1D1 SYNONYMOUS SNP Somatic -8 0.051 SQHIGH 10 38 48 0 39 39 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23216 4 38029479 38029479 28 ALL relapse snv KLB missense A169T NM_175737 10-PASKHT KLB MISSENSE SNP Somatic PFAM:PF00232:Glyco_hydro_1 15 0.748 SQHIGH 27 25 52 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 152831 4 39409074 39409074 80 ALL relapse snv BEND4 silent T298T NM_207406 10-PASKHT BEND4 SYNONYMOUS SNP dbsnp.134:rs148903882 Somatic 11 0.425 SQHIGH 34 41 75 0 62 62 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 389206 4 42145605 42145605 108 ALL relapse snv GUF1 splice_region K223_E6splice_region NM_021927 10-PASKHT GUF1 INTRON SNP Somatic 12 0.482 SQHIGH 11 18 29 0 23 23 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 60558 4 44685345 44685345 32 ALL relapse snv GABRB1 missense R411H NM_000812 10-PASKHT GABRB1 MISSENSE SNP Somatic PFAM:PF02932:Neur_chan_memb 6 0.229 SQHIGH 18 15 33 1 30 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2560 4 47427842 47427842 54 ALL relapse snv FIP1L1 missense R473H NM_030917 10-PASKHT FIP1L1 MISSENSE SNP Somatic 11 0.425 SQHIGH 24 26 50 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 81608 4 54319219 54319219 83 ALL relapse snv PDGFRA missense R979H NM_006206 10-PASKHT PDGFRA MISSENSE SNP Somatic 18 0.949 SQHIGH 17 14 31 1 39 40 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5156 4 55156535 55156535 65 ALL relapse snv LPHN3 missense T766M NM_015236 10-PASKHT LPHN3 MISSENSE SNP Somatic PFAM:PF12003:DUF3497 11 0.425 SQHIGH 12 20 32 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23284 4 62812713 62812713 35 ALL relapse snv UGT2B11 silent R338R NM_001073 10-PASKHT UGT2B11 SYNONYMOUS SNP Somatic PFAM:PF00201:UDPGT 5 0.200 SQHIGH 11 16 27 0 30 30 Cosmic_Gene T T G T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10720 4 70071276 70071276 42 ALL relapse snv GC nonsense R425* NM_000583 10-PASKHT GC NONSENSE SNP Somatic PFAM:PF09164:VitD-bind_III 10 0.372 SQHIGH 15 29 44 0 47 47 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2638 4 72618357 72618357 54 ALL relapse snv PAQR3 missense T196M NM_001040202 10-PASKHT PAQR3 MISSENSE SNP Somatic PFAM:PF03006:HlyIII 6 0.229 SQHIGH 10 26 36 0 38 38 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 152559 4 79847790 79847790 35 ALL relapse snv TMEM150C missense R86C NM_001080506 10-PASKHT TMEM150C MISSENSE SNP Somatic PFAM:PF10277:Frag1 12 0.482 SQHIGH 18 23 41 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 441027 4 83417328 83417328 54 ALL relapse snv LIN54 silent N492N NM_194282 10-PASKHT LIN54 SYNONYMOUS SNP Somatic 0 0.107 SQHIGH 12 15 27 0 16 16 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 132660 4 83859622 83859622 29 ALL relapse snv CDS1 missense L326F NM_001263 10-PASKHT CDS1 MISSENSE SNP Somatic PFAM:PF01148:CTP_transf_1 1 0.118 SQHIGH 7 16 23 0 17 17 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1040 4 85562087 85562087 19 ALL relapse snv SLC10A6 missense V135M NM_197965 10-PASKHT SLC10A6 MISSENSE SNP Somatic PFAM:PF03547:Mem_trans 6 0.229 SQHIGH 18 42 60 0 40 40 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 345274 4 87754552 87754552 45 ALL relapse snv DSPP missense R354H NM_014208 10-PASKHT DSPP MISSENSE SNP Somatic 2 0.134 SQHIGH 20 61 81 1 47 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1834 4 88534399 88534399 35 ALL relapse snv UNC5C missense R800W NM_003728 10-PASKHT UNC5C MISSENSE SNP Somatic 10 0.372 SQHIGH 22 25 47 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8633 4 96104101 96104101 77 ALL relapse snv MTTP silent S252S NM_000253 10-PASKHT MTTP SYNONYMOUS SNP Somatic PFAM:PF01347:Vitellogenin_N 9 0.329 SQHIGH 8 20 28 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4547 4 100512945 100512945 34 ALL relapse snv NFKB1 missense A521T NM_003998 10-PASKHT NFKB1 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 10 0.372 SQHIGH 11 19 30 0 27 27 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4790 4 103518742 103518742 35 ALL relapse snv CASP6 missense T199M NM_001226 10-PASKHT CASP6 MISSENSE SNP Somatic -4 0.070 SQHIGH 6 28 34 0 30 30 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 839 4 110612053 110612053 17 ALL relapse snv NDST3 nonsense R528* NM_004784 10-PASKHT NDST3 NONSENSE SNP dbsnp.134:rs144543137 Somatic 6 0.229 SQHIGH 20 32 52 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9348 4 119145688 119145688 64 ALL relapse snv PP12613 EXON E1_exon NM_152399 10-PASKHT TMEM155|PP12613 UTR5|UTR SNP Somatic 1 0.118 SQHIGH 16 36 52 2 44 46 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 132332|100192379 4 122686076 122686076 32 ALL relapse snv TRPC3 missense R261W NM_001130698 10-PASKHT TRPC3 MISSENSE SNP Somatic 2 0.134 SQHIGH 30 27 57 1 30 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7222 4 122853632 122853632 61 ALL relapse snv KIAA1109 missense R4130Q NM_015312 10-PASKHT KIAA1109 MISSENSE SNP Somatic 7 0.259 SQHIGH 14 11 25 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84162 4 123264601 123264601 52 ALL relapse snv FAT4 missense V141M NM_024582 10-PASKHT FAT4 MISSENSE SNP Somatic 3 0.149 SQHIGH 25 36 61 1 44 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79633 4 126237987 126237987 60 ALL relapse snv FAT4 missense R4225W NM_024582 10-PASKHT FAT4 MISSENSE SNP dbsnp.134:rs150155800 Somatic 9 0.329 SQHIGH 11 28 39 1 43 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79633 4 126402750 126402750 31 ALL relapse snv FAT4 missense P4401L NM_024582 10-PASKHT FAT4 MISSENSE SNP Somatic 15 0.748 SQHIGH 14 22 36 0 40 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79633 4 126411179 126411179 53 ALL relapse snv FAT4 silent H4894H NM_024582 10-PASKHT FAT4 SYNONYMOUS SNP dbsnp.126:rs35862879 Somatic 7 0.259 SQHIGH 14 29 43 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79633 4 126412659 126412659 48 ALL relapse snv PCDH10 silent S754S NM_032961 10-PASKHT PCDH10 SYNONYMOUS SNP Somatic -3 0.077 SQHIGH 8 9 17 1 20 21 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57575 4 134073557 134073557 25 ALL relapse snv TBC1D9 missense A850V NM_015130 10-PASKHT TBC1D9 MISSENSE SNP Somatic 5 0.200 SQHIGH 26 36 62 1 44 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23158 4 141555299 141555299 62 ALL relapse snv ZNF827 silent S73S NM_178835 10-PASKHT ZNF827 SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 19 31 50 0 41 41 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 152485 4 146824192 146824192 58 ALL relapse snv RXFP1 missense R694Q NM_021634 10-PASKHT RXFP1 MISSENSE SNP Somatic 11 0.425 SQHIGH 11 10 21 0 34 34 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 59350 4 159573014 159573014 55 ALL relapse snv MARCH1 missense R104C NM_001166373 10-PASKHT MARCH1 MISSENSE SNP dbsnp.134:rs146337383 Somatic 14 0.630 SQHIGH 24 22 46 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55016 4 164507014 164507014 68 ALL relapse snv TMEM192 missense R131Q NM_001100389 10-PASKHT TMEM192 MISSENSE SNP Somatic 4 0.169 SQHIGH 12 23 35 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 201931 4 166021827 166021827 37 ALL relapse snv KLHL2 missense R246W NM_007246 10-PASKHT KLHL2 MISSENSE SNP Somatic PFAM:PF07707:BACK 0 0.107 SQHIGH 10 45 55 0 55 55 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11275 4 166218842 166218842 32 ALL relapse snv TLL1 missense R467H NM_012464 10-PASKHT TLL1 MISSENSE SNP dbsnp.134:rs138017521 Somatic -8 0.051 SQHIGH 6 38 44 0 58 58 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7092 4 166964447 166964447 23 ALL relapse snv GLRA3 missense R229Q NM_006529 10-PASKHT GLRA3 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 3 0.149 SQHIGH 5 12 17 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8001 4 175603979 175603979 24 ALL relapse snv NEIL3 missense V76M NM_018248 10-PASKHT NEIL3 MISSENSE SNP dbsnp.126:rs34112288 Somatic 5 0.200 SQHIGH 13 31 44 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55247 4 178243682 178243682 50 ALL relapse snv TENM3 silent R2508R NM_001080477 10-PASKHT TENM3 SYNONYMOUS SNP Somatic 0 0.107 SQHIGH 11 35 46 0 44 44 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55714 4 183720928 183720928 35 ALL relapse snv SORBS2 silent N260N NM_001145674 10-PASKHT SORBS2 SYNONYMOUS,INTRON SNP Somatic 6 0.229 SQHIGH 21 35 56 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8470 4 186545503 186545503 72 ALL relapse snv TRIML1 missense A230T NM_178556 10-PASKHT TRIML1 MISSENSE SNP dbsnp.134:rs138401785 Somatic 3 0.149 SQHIGH 17 41 58 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 339976 4 189063589 189063589 50 ALL relapse snv SLC6A19 silent A222A NM_001003841 10-PASKHT SLC6A19 SYNONYMOUS SNP Somatic PFAM:PF00209:SNF -7 0.055 SQHIGH 5 21 26 0 20 20 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 340024 5 1213580 1213580 13 ALL relapse snv SLC6A3 missense V259M NM_001044 10-PASKHT SLC6A3 MISSENSE SNP Somatic PFAM:PF00209:SNF 8 0.291 SQHIGH 15 28 43 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6531 5 1422008 1422008 38 ALL relapse snv IRX4 silent S329S NM_016358 10-PASKHT IRX4 SYNONYMOUS SNP Somatic -4 0.070 SQHIGH 7 25 32 0 35 35 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 50805 5 1878656 1878656 24 ALL relapse snv ADAMTS16 missense H1048Q NM_139056 10-PASKHT ADAMTS16 MISSENSE SNP Somatic -1 0.095 SQHIGH 11 29 40 0 30 30 Cosmic_Gene C C G C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 170690 5 5303837 5303837 30 ALL relapse snv SRD5A1 missense A219V NM_001047 10-PASKHT SRD5A1 MISSENSE SNP Somatic PFAM:PF04140:ICMT 9 0.329 SQHIGH 26 22 48 0 46 46 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6715 5 6663022 6663022 96 ALL relapse snv MYO10 missense D1503N NM_012334 10-PASKHT MYO10 MISSENSE SNP Somatic 5 0.200 SQHIGH 18 35 53 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4651 5 16680091 16680091 50 ALL relapse snv CDH9 missense T613M NM_016279 10-PASKHT CDH9 MISSENSE SNP Somatic 12 0.482 SQHIGH 10 26 36 1 36 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1007 5 26885767 26885767 26 ALL relapse snv RXFP3 silent N142N NM_016568 10-PASKHT RXFP3 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 9 0.329 SQHIGH 24 31 55 1 34 35 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51289 5 33937271 33937271 51 ALL relapse snv AGXT2 splice L30_E1splice NM_031900 10-PASKHT AGXT2 DISRUPT SNP dbsnp.134:rs143929815 Somatic 0 0.107 SQHIGH 13 58 71 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64902 5 35047909 35047909 31 ALL relapse snv CCDC152 missense R251C NM_001134848 10-PASKHT CCDC152 MISSENSE SNP Somatic 8 0.291 SQHIGH 7 19 26 0 37 37 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100129792 5 42799869 42799869 29 ALL relapse snv HCN1 silent R838R NM_021072 10-PASKHT HCN1 SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 10 14 24 1 20 21 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 348980 5 45262182 45262182 24 ALL relapse snv MAP1B silent T2158T NM_005909 10-PASKHT MAP1B SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 32 34 66 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4131 5 71495656 71495656 95 ALL relapse snv RASGRF2 missense R26H NM_006909 10-PASKHT RASGRF2 MISSENSE SNP Somatic 7 0.259 SQHIGH 16 26 42 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5924 5 80256634 80256634 45 ALL relapse snv TMEM167A silent S2S NM_174909 10-PASKHT SCARNA18|TMEM167A TSS-UPSTREAM|SYNONYMOUS SNP Somatic 16 0.814 SQHIGH 12 12 24 0 22 22 A A G A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 677765|153339 5 82360934 82360934 42 ALL relapse snv TTC37 splice D1540_E42splice NM_014639 10-PASKHT TTC37 DISRUPT SNP Somatic 10 0.372 SQHIGH 10 19 29 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9652 5 94803569 94803569 37 ALL relapse snv LIX1 silent T276T NM_153234 10-PASKHT LIX1 SYNONYMOUS SNP Somatic 12 0.482 SQHIGH 17 27 44 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 167410 5 96430473 96430473 54 ALL relapse snv TRIM36 missense R146H NM_018700 10-PASKHT TRIM36 MISSENSE SNP Somatic 11 0.425 SQHIGH 11 22 33 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55521 5 114482953 114482953 45 ALL relapse snv SEMA6A-AS1 EXON E17_exon NM_020796 10-PASKHT SEMA6A INTRON SNP Somatic 6 0.229 SQHIGH 23 46 69 0 63 63 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57556 5 115807221 115807221 74 ALL relapse snv PRR16 missense R200W NM_016644 10-PASKHT PRR16 MISSENSE SNP Somatic 15 0.748 SQHIGH 23 26 49 0 40 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51334 5 120022156 120022156 73 ALL relapse snv FTMT missense V106M NM_177478 10-PASKHT FTMT MISSENSE SNP Somatic PFAM:PF00210:Ferritin 7 0.259 SQHIGH 13 33 46 3 61 64 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 94033 5 121187974 121187974 32 ALL relapse snv LOC100505841 silent S5S NM_001195535 10-PASKHT LOC100505841 SYNONYMOUS SNP Somatic 10 0.372 SQHIGH 15 15 30 0 48 48 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100505841 5 121495939 121495939 74 ALL relapse snv PRDM6 silent S218S NM_001136239 10-PASKHT PRDM6 SYNONYMOUS SNP Somatic 0 0.107 SQHIGH 11 20 31 0 38 38 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 93166 5 122435410 122435410 43 ALL relapse snv CTXN3 missense R47W NM_001048252 10-PASKHT CTXN3 MISSENSE SNP Somatic PFAM:PF11057:Cortexin 16 0.814 SQHIGH 29 32 61 1 67 68 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 613212 5 126993352 126993352 101 ALL relapse snv FBN2 missense G1094R NM_001999 10-PASKHT FBN2 MISSENSE SNP Somatic 0 0.107 SQHIGH 13 15 28 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2201 5 127680140 127680140 47 ALL relapse snv ADAMTS19-AS1 EXON E1_exon NM_133638 10-PASKHT ADAMTS19 INTRON SNP Somatic 1 0.118 SQHIGH 18 27 45 0 25 25 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 171019 5 128796235 128796235 41 ALL relapse snv KIAA1024L missense R138W NM_001257308 10-PASKHT SNP Somatic 2 0.134 SQHIGH 19 28 47 0 42 42 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5 129100595 129100595 62 ALL relapse snv PDLIM4 missense R195W NM_003687 10-PASKHT PDLIM4 MISSENSE SNP Somatic -4 0.070 SQHIGH 10 26 37 2 44 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8572 5 131607072 131607072 25 ALL relapse snv NEUROG1 silent T78T NM_006161 10-PASKHT NEUROG1 SYNONYMOUS SNP Somatic -6 0.060 SQHIGH 5 14 19 0 13 13 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4762 5 134871147 134871147 12 ALL relapse snv PROB1 missense R24C NM_001161546 10-PASKHT PROB1 MISSENSE SNP Somatic -2 0.086 SQHIGH 9 15 24 0 26 26 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 389333 5 138730701 138730701 33 ALL relapse snv PCDHA2 silent R595R NM_018905 10-PASKHT PCDHA1|PCDHA3|PCDHA2 INTRON|TSS-UPSTREAM|SYNONYMOUS SNP Somatic -2 0.086 SQHIGH 24 19 43 1 20 21 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56147|56145|56146 5 140176334 140176334 44 ALL relapse snv PCDHA2 silent T738T NM_018905 10-PASKHT PCDHA1|PCDHA3|PCDHA2 INTRON|TSS-UPSTREAM|SYNONYMOUS SNP Somatic 15 0.748 SQHIGH 15 13 28 0 23 23 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56147|56145|56146 5 140176763 140176763 49 ALL relapse snv PCDHA3 silent T267T NM_018906 10-PASKHT PCDHA1|PCDHA3|PCDHA2 INTRON|SYNONYMOUS|INTRON SNP Somatic -1 0.095 SQHIGH 18 49 67 1 36 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56147|56145|56146 5 140181583 140181583 29 ALL relapse snv PCDHA3 missense T662M NM_018906 10-PASKHT PCDHA4|PCDHA1|PCDHA3|PCDHA2 TSS-UPSTREAM|INTRON|MISSENSE|INTRON SNP dbsnp.123:rs17844261 Somatic -4 0.070 SQHIGH 9 35 44 0 36 36 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56144|56147|56145|56146 5 140182767 140182767 25 ALL relapse snv PCDHA6 missense R71C NM_018909 10-PASKHT PCDHA4|PCDHA1|PCDHA5|PCDHA6|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON SNP Somatic 11 0.425 SQHIGH 30 25 55 1 54 55 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56144|56147|56143|56142|56145|56146 5 140207887 140207887 101 ALL relapse snv PCDHA6 missense R623H NM_018909 10-PASKHT PCDHA4|PCDHA1|PCDHA5|PCDHA6|PCDHA7|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON,MISSENSE|TSS-UPSTREAM|INTRON|INTRON SNP Somatic -10 0.043 SQHIGH 6 24 30 0 23 23 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56144|56147|56143|56142|56141|56145|56146 5 140209544 140209544 16 ALL relapse snv PCDHA8 missense R619C NM_018911 10-PASKHT PCDHA4|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA3|PCDHA2 INTRON|INTRON|TSS-UPSTREAM|INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON SNP Somatic 9 0.329 SQHIGH 12 20 32 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56144|56147|9752|56143|56140|56142|56141|56145|56146 5 140222761 140222761 36 ALL relapse snv PCDHA10 missense A451T NM_018901 10-PASKHT PCDHA4|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA10|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON SNP Somatic 11 0.425 SQHIGH 19 29 48 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56144|56147|9752|56143|56140|56142|56141|56139|56145|56146 5 140236984 140236984 59 ALL relapse snv PCDHA11 missense A478V NM_018902 10-PASKHT PCDHA4|PCDHA11|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA10|PCDHA12|PCDHA3|PCDHA2 INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON|INTRON SNP Somatic -7 0.055 SQHIGH 5 18 23 0 17 17 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56144|56138|56147|9752|56143|56140|56142|56141|56139|56137|56145|56146 5 140250121 140250121 13 ALL relapse snv PCDHA11 missense G654S NM_018902 10-PASKHT PCDHA4|PCDHA11|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA10|PCDHA12|PCDHA3|PCDHA2 INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON|INTRON SNP Somatic 9 0.329 SQHIGH 8 13 21 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56144|56138|56147|9752|56143|56140|56142|56141|56139|56137|56145|56146 5 140250648 140250648 36 ALL relapse snv PCDHA13 silent A427A NM_018904 10-PASKHT PCDHA4|PCDHA11|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA10|PCDHA13|PCDHA12|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|INTRON|INTRON SNP Somatic 15 0.748 SQHIGH 27 24 51 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56144|56138|56147|9752|56143|56140|56142|56141|56139|56136|56137|56145|56146 5 140263134 140263134 72 ALL relapse snv PCDHB6 silent G324G NM_018939 10-PASKHT PCDHB6|PCDHB17 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 8 0.291 SQHIGH 22 29 51 2 54 56 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56130|54661 5 140530810 140530810 63 ALL relapse snv PCDHB14 silent I3I NM_018934 10-PASKHT PCDHB14 SYNONYMOUS SNP Somatic 15 0.748 SQHIGH 35 35 70 1 72 73 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56122 5 140603086 140603086 120 ALL relapse snv PCDHGA5 silent G574G NM_018918 10-PASKHT PCDHGA3|PCDHGB3|PCDHGA4|PCDHGB1|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGB2 INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|INTRON SNP Somatic 5 0.200 SQHIGH 33 18 51 1 32 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56112|56102|56111|56104|56113|56110|56114|56103 5 140745619 140745619 86 ALL relapse snv PCDHGB6 missense P466L NM_018926 10-PASKHT PCDHGB5|PCDHGB4|PCDHGA6|PCDHGB2|PCDHGA10|PCDHGA3|PCDHGA8|PCDHGB3|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGB6 INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE SNP Somatic 2 0.134 SQHIGH 25 15 40 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56101|8641|56109|56103|56106|56112|9708|56102|56111|56107|56104|56108|56113|56110|56114|56100 5 140789166 140789166 74 ALL relapse snv PCDHGB7 missense N238S NM_018927 10-PASKHT PCDHGB5|PCDHGB4|PCDHGA6|PCDHGB7|PCDHGB2|PCDHGA10|PCDHGA8|PCDHGA3|PCDHGB3|PCDHGA4|PCDHGA11|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGB6 INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 6 0.229 SQHIGH 21 64 85 0 77 77 Cosmic_Gene A A G A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56101|8641|56109|56099|56103|56106|9708|56112|56102|56111|56105|56107|56104|56108|56113|56110|56114|56100 5 140798139 140798139 65 ALL relapse snv GRXCR2 silent S203S NM_001080516 10-PASKHT GRXCR2 SYNONYMOUS SNP dbsnp.134:rs139847108 Somatic PFAM:PF00837:T4_deiodinase 6 0.229 SQHIGH 19 26 45 0 43 43 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 643226 5 145239434 145239434 66 ALL relapse snv LARS silent S1030S NM_020117 10-PASKHT LARS SYNONYMOUS SNP Somatic -1 0.095 SQHIGH 5 12 17 0 24 24 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51520 5 145503551 145503551 21 ALL relapse snv SH3TC2 missense R1279Q NM_024577 10-PASKHT SH3TC2 MISSENSE SNP dbsnp.134:rs142774907 Somatic 6 0.229 SQHIGH 19 33 52 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79628 5 148384305 148384305 60 ALL relapse snv ARSI silent A414A NM_001012301 10-PASKHT ARSI SYNONYMOUS SNP dbsnp.134:rs148519839 Somatic 6 0.229 SQHIGH 21 57 78 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 340075 5 149677245 149677245 47 ALL relapse snv GLRA1 missense R93W NM_001146040 10-PASKHT GLRA1 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD -8 0.051 SQHIGH 8 51 59 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2741 5 151239545 151239545 23 ALL relapse snv CLINT1 silent A400A NM_014666 10-PASKHT CLINT1 SYNONYMOUS SNP Somatic -4 0.070 SQHIGH 9 33 42 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9685 5 157218891 157218891 31 ALL relapse snv SLIT3 missense R1491H NM_003062 10-PASKHT SLIT3 MISSENSE SNP dbsnp.134:rs140403495 Somatic 1 0.118 SQHIGH 9 34 43 1 46 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6586 5 168093559 168093559 23 ALL relapse snv SLIT3 nonsense R1177* NM_003062 10-PASKHT SLIT3 NONSENSE SNP Somatic 5 0.200 SQHIGH 20 53 73 0 58 58 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6586 5 168112718 168112718 57 ALL relapse snv SLIT3 silent H1085H NM_003062 10-PASKHT SLIT3 SYNONYMOUS SNP dbsnp.134:rs143708971 Somatic PFAM:PF07645:EGF_CA 11 0.425 SQHIGH 26 37 63 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6586 5 168114043 168114043 76 ALL relapse snv FOXI1 silent P26P NM_012188 10-PASKHT FOXI1 SYNONYMOUS SNP Somatic 1 0.118 SQHIGH 29 27 56 0 54 54 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2299 5 169533039 169533039 106 ALL relapse snv TLX3 missense R138C NM_021025 10-PASKHT LOC728145|TLX3 TSS-UPSTREAM|MISSENSE SNP Somatic 15 0.748 SQHIGH 23 18 41 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 728145|30012 5 170736781 170736781 79 ALL relapse snv N4BP3 missense R47Q NM_015111 10-PASKHT N4BP3 MISSENSE SNP dbsnp.134:rs150025670 Somatic 16 0.814 SQHIGH 33 30 63 0 54 54 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23138 5 177546724 177546724 112 ALL relapse snv GRM6 silent T602T NM_000843 10-PASKHT GRM6 SYNONYMOUS SNP Somatic 10 0.372 SQHIGH 24 27 51 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2916 5 178413449 178413449 75 ALL relapse snv GRM6 silent T218T NM_000843 10-PASKHT GRM6 SYNONYMOUS SNP Somatic PFAM:PF01094:ANF_receptor PFAM:PF02608:Bmp 10 0.372 SQHIGH 29 32 61 1 47 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2916 5 178418935 178418935 78 ALL relapse snv ZNF879 silent D26D NM_001136116 10-PASKHT ZNF879 SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 27 45 72 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 345462 5 178454518 178454518 68 ALL relapse snv MGAT1 missense R190H NM_001114618 10-PASKHT MGAT1 MISSENSE SNP Somatic -1 0.095 SQHIGH 7 26 33 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4245 5 180219403 180219403 16 ALL relapse snv BTNL8 missense G272S NM_024850 10-PASKHT BTNL8 INTRON,MISSENSE SNP Somatic 9 0.329 SQHIGH 8 28 36 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79908 5 180374652 180374652 33 ALL relapse snv BTNL9 missense A481V NM_152547 10-PASKHT BTNL9 MISSENSE SNP Somatic PFAM:PF00622:SPRY 5 0.200 SQHIGH 18 45 63 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 153579 5 180486696 180486696 34 ALL relapse snv RREB1 missense T1373M NM_001003699 10-PASKHT RREB1 INTRON,MISSENSE SNP Somatic 4 0.169 SQHIGH 16 21 37 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6239 6 7246801 7246801 49 ALL relapse snv GCM2 missense E466K NM_004752 10-PASKHT GCM2 MISSENSE SNP Somatic 14 0.630 SQHIGH 28 35 63 0 52 52 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9247 6 10874353 10874353 89 ALL relapse snv HIVEP1 silent V516V NM_002114 10-PASKHT HIVEP1 SYNONYMOUS SNP Somatic 10 0.372 SQHIGH 24 29 53 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3096 6 12121576 12121576 76 ALL relapse snv SLC17A2 missense A268V NM_005835 10-PASKHT SLC17A2 MISSENSE SNP Somatic 2 0.134 SQHIGH 14 42 56 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10246 6 25917040 25917040 41 ALL relapse snv ZNF391 missense R148Q NM_001076781 10-PASKHT ZNF391 MISSENSE SNP Somatic 5 0.200 SQHIGH 16 45 61 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 346157 6 27368592 27368592 52 ALL relapse snv ZNF184 missense T497M NM_007149 10-PASKHT ZNF184 MISSENSE SNP Somatic 5 0.200 SQHIGH 30 40 70 0 79 79 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7738 6 27419848 27419848 117 ALL relapse snv ZNF184 missense R239H NM_007149 10-PASKHT ZNF184 MISSENSE SNP Somatic 8 0.291 SQHIGH 23 41 64 1 59 60 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7738 6 27420622 27420622 65 ALL relapse snv GABBR1 silent P468P NM_001470 10-PASKHT GABBR1 SYNONYMOUS SNP Somatic PFAM:PF01094:ANF_receptor 12 0.482 SQHIGH 32 27 59 2 48 50 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2550 6 29581182 29581182 85 ALL relapse snv VARS2 silent L644L NM_001167734 10-PASKHT VARS2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 22 43 65 1 53 54 Cosmic_Gene T T C T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57176 6 30889928 30889928 55 ALL relapse snv DPCR1 missense T177M NM_080870 10-PASKHT DPCR1 MISSENSE SNP Somatic 4 0.169 SQHIGH 26 47 73 1 41 42 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 135656 6 30916771 30916771 49 ALL relapse snv CFB missense D246N NM_001710 10-PASKHT CFB MISSENSE SNP Somatic 2 0.134 SQHIGH 29 54 83 1 54 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 629 6 31915596 31915596 63 ALL relapse snv PRRT1 silent H221H NM_030651 10-PASKHT PPT2|PPT2-EGFL8|PRRT1 TSS-UPSTREAM|TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF04505:CD225 11 0.425 SQHIGH 18 31 49 0 36 36 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9374|100532746|80863 6 32117395 32117395 50 ALL relapse snv COL11A2 missense P1422L NM_080680 10-PASKHT COL11A2 MISSENSE SNP Somatic 3 0.149 SQHIGH 24 59 83 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1302 6 33134570 33134570 61 ALL relapse snv FANCE splice V462_E9splice NM_021922 10-PASKHT FANCE DISRUPT SNP Somatic 15 0.748 SQHIGH 15 21 36 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2178 6 35430565 35430565 68 ALL relapse snv CPNE5 missense A360T NM_020939 10-PASKHT CPNE5 MISSENSE SNP Somatic 6 0.229 SQHIGH 12 30 42 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57699 6 36714295 36714295 44 ALL relapse snv SLC22A7 missense V242M NM_006672 10-PASKHT SLC22A7 MISSENSE SNP Somatic -6 0.060 SQHIGH 18 17 35 0 26 26 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10864 6 43267707 43267707 55 ALL relapse snv TMEM63B missense V495I NM_018426 10-PASKHT TMEM63B MISSENSE SNP Somatic PFAM:PF02714:DUF221 12 0.482 SQHIGH 32 33 65 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55362 6 44117665 44117665 107 ALL relapse snv CAPN11 silent H55H NM_007058 10-PASKHT CAPN11 SYNONYMOUS SNP Somatic 17 0.911 SQHIGH 15 19 34 1 34 35 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11131 6 44137094 44137094 45 ALL relapse snv TMEM151B missense R231Q NM_001137560 10-PASKHT TMEM151B MISSENSE SNP Somatic -1 0.095 SQHIGH 12 23 35 0 26 26 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 441151 6 44243255 44243255 33 ALL relapse snv GPR111 silent C41C NM_153839 10-PASKHT GPR111 SYNONYMOUS SNP Somatic 12 0.482 SQHIGH 18 27 45 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 222611 6 47646726 47646726 56 ALL relapse snv PKHD1 missense G952R NM_138694 10-PASKHT PKHD1 MISSENSE SNP Somatic 5 0.200 SQHIGH 17 40 57 1 56 57 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5314 6 51907900 51907900 47 ALL relapse snv FAM83B missense A371T NM_001010872 10-PASKHT FAM83B MISSENSE SNP Somatic -3 0.077 SQHIGH 14 44 58 1 49 50 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 222584 6 54804880 54804880 32 ALL relapse snv BMP5 silent H399H NM_021073 10-PASKHT BMP5 SYNONYMOUS SNP Somatic PFAM:PF00019:TGF_beta 13 0.549 SQHIGH 12 16 28 0 27 27 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 653 6 55623821 55623821 42 ALL relapse snv PHF3 silent A405A NM_015153 10-PASKHT PHF3 SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 28 42 70 0 63 63 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23469 6 64394838 64394838 92 ALL relapse snv PHF3 missense A1081T NM_015153 10-PASKHT PHF3 MISSENSE SNP Somatic 12 0.482 SQHIGH 20 16 36 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23469 6 64413435 64413435 58 ALL relapse snv B3GAT2 missense R264H NM_080742 10-PASKHT SMAP1|B3GAT2 UTR3|MISSENSE SNP Somatic 6 0.229 SQHIGH 12 37 49 1 45 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 60682|135152 6 71571627 71571627 29 ALL relapse snv COL12A1 silent N294N NM_004370 10-PASKHT COL12A1 SYNONYMOUS,INTRON SNP Somatic 5 0.200 SQHIGH 15 43 58 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1303 6 75898193 75898193 48 ALL relapse snv HTR1B missense T209M NM_000863 10-PASKHT HTR1B MISSENSE SNP Somatic PFAM:PF00001:7tm_1 3 0.149 SQHIGH 26 57 83 0 56 56 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3351 6 78172495 78172495 66 ALL relapse snv C6orf163 missense V188M NM_001010868 10-PASKHT C6orf163 MISSENSE SNP dbsnp.132:rs114836542 Somatic 5 0.200 SQHIGH 23 42 65 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 206412 6 88074686 88074686 64 ALL relapse snv GABRR1 missense R278C NM_002042 10-PASKHT GABRR1 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD -10 0.043 SQHIGH 6 42 48 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2569 6 89891741 89891741 17 ALL relapse snv MDN1 silent S4186S NM_014611 10-PASKHT MDN1 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 24 31 55 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23195 6 90385908 90385908 60 ALL relapse snv MDN1 silent T2211T NM_014611 10-PASKHT MDN1 SYNONYMOUS SNP Somatic 8 0.291 SQHIGH 12 18 30 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23195 6 90426479 90426479 45 ALL relapse snv PRDM13 silent S345S NM_021620 10-PASKHT PRDM13 SYNONYMOUS SNP Somatic -5 0.064 SQHIGH 8 12 20 1 19 20 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 59336 6 100061546 100061546 20 ALL relapse snv RFX6 splice_region G629_E16splice_region NM_173560 10-PASKHT RFX6 DONOR SNP Somatic 15 0.748 SQHIGH 20 22 42 0 28 28 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 222546 6 117246827 117246827 55 ALL relapse snv ROS1 silent S565S NM_002944 10-PASKHT ROS1 SYNONYMOUS SNP dbsnp.134:rs138192393 Somatic 10 0.372 SQHIGH 14 34 48 1 55 56 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6098 6 117710577 117710577 42 ALL relapse snv RNF217 silent C168C NM_001286398 10-PASKHT STL TSS-UPSTREAM SNP Somatic 5 0.200 SQHIGH 18 32 50 0 34 34 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7955 6 125284194 125284194 47 ALL relapse snv THEMIS missense R664H NM_001164685 10-PASKHT THEMIS MISSENSE SNP Somatic 13 0.549 SQHIGH 10 19 29 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 387357 6 128040853 128040853 31 ALL relapse snv PTPRK silent P667P NM_001135648 10-PASKHT PTPRK SYNONYMOUS SNP dbsnp.134:rs150460178 Somatic -1 0.095 SQHIGH 9 39 48 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5796 6 128388820 128388820 21 ALL relapse snv MAP3K5 missense P1297S NM_005923 10-PASKHT MAP3K5 MISSENSE SNP Somatic 13 0.549 SQHIGH 17 19 36 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4217 6 136882769 136882769 73 ALL relapse snv IFNGR1 nonsense W48* NM_000416 10-PASKHT IFNGR1 NONSENSE SNP Somatic PFAM:PF00041:fn3 14 0.630 SQHIGH 17 16 33 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3459 6 137528157 137528157 63 ALL relapse snv GRM1 silent T996T NM_001278064 10-PASKHT GRM1 UTR3,SYNONYMOUS SNP Somatic 8 0.291 SQHIGH 15 23 38 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2911 6 146755335 146755335 50 ALL relapse snv RAET1G missense T160M NM_001001788 10-PASKHT LOC100652739|RAET1G UTR|MISSENSE SNP Somatic PFAM:PF00129:MHC_I 3 0.149 SQHIGH 29 66 95 0 74 74 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100652739|353091 6 150240331 150240331 82 ALL relapse snv PLEKHG1 splice_region Q304_E8splice_region NM_001029884 10-PASKHT PLEKHG1 INTRON SNP Somatic 0 0.107 SQHIGH 6 25 31 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57480 6 151125886 151125886 20 ALL relapse snv TIAM2 missense G967R NM_012454 10-PASKHT TIAM2 MISSENSE SNP dbsnp.134:rs150560357 Somatic -8 0.051 SQHIGH 7 39 46 0 39 39 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26230 6 155504469 155504469 20 ALL relapse snv TULP4 silent T232T NM_020245 10-PASKHT TULP4 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 26 26 52 1 46 47 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56995 6 158870180 158870180 78 ALL relapse snv AIRN EXON E2_exon NM_000876 10-PASKHT IGF2R INTRON SNP Somatic 9 0.329 SQHIGH 20 20 40 1 23 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3482 6 160426483 160426483 41 ALL relapse snv IGF2R missense R1335H NM_000876 10-PASKHT IGF2R MISSENSE SNP dbsnp.117:rs8191860 Somatic PFAM:PF00878:CIMR 9 0.329 SQHIGH 14 21 35 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3482 6 160485550 160485550 58 ALL relapse snv PLG missense R343W NM_000301 10-PASKHT PLG MISSENSE SNP dbsnp.134:rs142647215 Somatic -2 0.086 SQHIGH 9 35 44 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5340 6 161139801 161139801 26 ALL relapse snv PARK2 silent A92A NM_004562 10-PASKHT PARK2 SYNONYMOUS,INTRON SNP Somatic 5 0.200 SQHIGH 18 36 54 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5071 6 162683693 162683693 39 ALL relapse snv PACRG-AS1 EXON E5_exon NM_152410 10-PASKHT PACRG|LOC285796 INTRON|UTR SNP Somatic 6 0.229 SQHIGH 33 62 95 0 76 76 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 135138|285796 6 163731466 163731466 97 ALL relapse snv HEATR2 missense G210R NM_017802 10-PASKHT PRKAR1B|HEATR2 TSS-UPSTREAM|MISSENSE SNP Somatic 4 0.169 SQHIGH 23 43 66 2 48 50 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5575|54919 7 769332 769332 45 ALL relapse snv MICALL2 silent A462A NM_182924 10-PASKHT MICALL2 SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 8 18 26 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79778 7 1484320 1484320 27 ALL relapse snv RADIL missense T976M NM_018059 10-PASKHT RADIL MISSENSE SNP Somatic 10 0.372 SQHIGH 29 32 61 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55698 7 4839857 4839857 79 ALL relapse snv RADIL missense R867H NM_018059 10-PASKHT RADIL MISSENSE SNP Somatic 1 0.118 SQHIGH 12 16 28 0 17 17 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55698 7 4841526 4841526 30 ALL relapse snv PAPOLB silent T208T NM_020144 10-PASKHT RADIL|PAPOLB INTRON|SYNONYMOUS SNP Somatic PFAM:PF04928:PAP_central 2 0.134 SQHIGH 14 43 57 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55698|56903 7 4900818 4900818 32 ALL relapse snv USP42 missense V603M NM_032172 10-PASKHT USP42 MISSENSE SNP Somatic -8 0.051 SQHIGH 7 36 43 0 42 42 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84132 7 6189634 6189634 22 ALL relapse snv GRID2IP silent R677R NM_001145118 10-PASKHT GRID2IP SYNONYMOUS SNP Somatic -1 0.095 SQHIGH 11 39 50 2 48 50 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 392862 7 6548685 6548685 21 ALL relapse snv ZNF316 missense D252N NM_001278559 10-PASKHT SNP Somatic 5 0.200 SQHIGH 15 37 52 1 40 41 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7 6691981 6691981 33 ALL relapse snv THSD7A silent A169A NM_015204 10-PASKHT THSD7A SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 16 45 61 1 77 78 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 221981 7 11676272 11676272 52 ALL relapse snv AGR2 splice_region D132_E6splice_region NM_006408 10-PASKHT AGR2 INTRON SNP Somatic 12 0.482 SQHIGH 17 24 41 0 39 39 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10551 7 16837248 16837248 58 ALL relapse snv PRPS1L1 missense R104Q NM_175886 10-PASKHT PRPS1L1 MISSENSE SNP Somatic PFAM:PF00156:Pribosyltran 3 0.149 SQHIGH 24 49 73 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 221823 7 18067095 18067095 58 ALL relapse snv IGF2BP3 missense G418S NM_006547 10-PASKHT IGF2BP3 MISSENSE SNP Somatic 15 0.748 SQHIGH 31 38 69 0 68 68 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10643 7 23358825 23358825 111 ALL relapse snv HOXA3 silent A194A NM_030661 10-PASKHT HOXA3 SYNONYMOUS SNP Somatic -2 0.086 SQHIGH 8 7 15 0 18 18 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3200 7 27148284 27148284 33 ALL relapse snv HOXA13 silent A207A NM_000522 10-PASKHT HOTTIP|HOXA13 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF12284:HoxA13_N 4 0.169 SQHIGH 14 20 35 0 19 19 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100316868|3209 7 27239076 27239076 32 ALL relapse snv PDE1C missense R45W NM_005020 10-PASKHT PDE1C MISSENSE SNP Somatic 8 0.291 SQHIGH 12 37 49 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5137 7 31920469 31920469 37 ALL relapse snv BMPER silent T365T NM_133468 10-PASKHT BMPER SYNONYMOUS SNP Somatic PFAM:PF00094:VWD 6 0.229 SQHIGH 23 45 68 1 52 53 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 168667 7 34118485 34118485 55 ALL relapse snv INHBA missense A213T NM_002192 10-PASKHT LOC285954|INHBA TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00688:TGFb_propeptide 4 0.169 SQHIGH 23 50 73 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 285954|3624 7 41729892 41729892 57 ALL relapse snv PKD1L1 nonsense R1347* NM_138295 10-PASKHT PKD1L1 NONSENSE SNP Somatic 5 0.200 SQHIGH 23 41 64 0 58 58 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 168507 7 47906070 47906070 74 ALL relapse snv PSPH splice G141_E6splice NM_004577 10-PASKHT PSPH MISSENSE SNP Somatic 10 0.372 SQHIGH 19 29 48 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5723 7 56084927 56084927 66 ALL relapse snv TMEM248 splice_region K308_E6splice_region NM_017994 10-PASKHT C7orf42 INTRON SNP Somatic 6 0.229 SQHIGH 20 42 62 0 63 63 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55069 7 66418363 66418363 69 ALL relapse snv RHBDD2 missense G302S NM_001040456 10-PASKHT RHBDD2 MISSENSE SNP Somatic 6 0.229 SQHIGH 37 48 85 0 54 54 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57414 7 75517476 75517476 96 ALL relapse snv GRM3 silent S281S NM_000840 10-PASKHT GRM3 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 23 19 42 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2913 7 86415951 86415951 73 ALL relapse snv GRM3 missense R371C NM_000840 10-PASKHT GRM3 MISSENSE SNP Somatic 4 0.169 SQHIGH 23 39 62 1 39 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2913 7 86416219 86416219 47 ALL relapse snv ZNF804B missense G894R NM_181646 10-PASKHT ZNF804B MISSENSE SNP Somatic 15 0.748 SQHIGH 25 28 53 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 219578 7 88964976 88964976 72 ALL relapse snv DLX5 nonsense Q76* NM_005221 10-PASKHT DLX5 NONSENSE SNP Somatic PFAM:PF12413:DLL_N 6 0.229 SQHIGH 13 32 45 0 57 57 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1749 7 96653710 96653710 51 ALL relapse snv FBXO24 missense R219Q NM_033506 10-PASKHT FBXO24|LOC100129845 MISSENSE|UTR SNP Somatic 13 0.549 SQHIGH 18 19 37 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26261|100129845 7 100190503 100190503 49 ALL relapse snv TRIM56 missense G174R NM_030961 10-PASKHT TRIM56 MISSENSE SNP Somatic PFAM:PF00643:zf-B_box -3 0.077 SQHIGH 16 15 31 0 25 25 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 81844 7 100731113 100731113 51 ALL relapse snv RELN silent G5G NM_005045 10-PASKHT RELN SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 13 18 31 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5649 7 103629789 103629789 38 ALL relapse snv PIK3CG missense V305M NM_002649 10-PASKHT PIK3CG MISSENSE SNP Somatic PFAM:PF00794:PI3K_rbd 10 0.372 SQHIGH 16 28 44 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5294 7 106508919 106508919 62 ALL relapse snv NRCAM splice P36_E1splice NM_001037132 10-PASKHT NRCAM DISRUPT SNP Somatic 10 0.372 SQHIGH 14 27 41 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4897 7 107880402 107880402 50 ALL relapse snv PNPLA8 missense P651S NM_015723 10-PASKHT PNPLA8 MISSENSE SNP Somatic -9 0.047 SQHIGH 6 41 47 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 50640 7 108119751 108119751 19 ALL relapse snv ST7-AS2 EXON E8_exon NM_018412 10-PASKHT ST7|ST7-AS2 INTRON|TSS-UPSTREAM SNP Somatic 4 0.169 SQHIGH 25 35 60 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7982|93654 7 116785626 116785626 73 ALL relapse snv ST7 missense T442M NM_018412 10-PASKHT ST7-OT3|ST7 UTR|MISSENSE SNP Somatic PFAM:PF04184:ST7 3 0.149 SQHIGH 24 53 77 0 86 86 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 93655|7982 7 116849980 116849980 88 ALL relapse snv CTTNBP2 silent N404N NM_033427 10-PASKHT CTTNBP2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 24 44 68 0 65 65 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83992 7 117432038 117432038 80 ALL relapse snv SLC13A1 missense R237H NM_022444 10-PASKHT SLC13A1 MISSENSE SNP Somatic 2 0.134 SQHIGH 28 23 51 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6561 7 122787315 122787315 87 ALL relapse snv TMEM229A missense R176H NM_001136002 10-PASKHT TMEM229A MISSENSE SNP Somatic -2 0.086 SQHIGH 22 12 34 0 15 15 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 730130 7 123672531 123672531 50 ALL relapse snv TMEM229A missense A117T NM_001136002 10-PASKHT TMEM229A MISSENSE SNP Somatic -6 0.060 SQHIGH 7 12 19 0 29 29 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 730130 7 123672709 123672709 32 ALL relapse snv ZNF800 missense R277H NM_176814 10-PASKHT ZNF800 MISSENSE SNP dbsnp.134:rs141987989 Somatic 7 0.259 SQHIGH 25 44 69 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 168850 7 127014560 127014560 66 ALL relapse snv SVOPL missense G353S NM_001139456 10-PASKHT SVOPL MISSENSE SNP Somatic 7 0.259 SQHIGH 19 52 71 0 67 67 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 136306 7 138312915 138312915 61 ALL relapse snv NDUFB2 missense G63R NM_004546 10-PASKHT NDUFB2 MISSENSE SNP Somatic 2 0.134 SQHIGH 14 35 49 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4708 7 140402754 140402754 41 ALL relapse snv OR2A25 silent N41N NM_001004488 10-PASKHT OR2A25 SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 19 40 59 0 60 60 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 392138 7 143771435 143771435 65 ALL relapse snv ZNF786 missense S532N NM_152411 10-PASKHT ZNF786 MISSENSE SNP Somatic -9 0.047 SQHIGH 5 25 30 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 136051 7 148768269 148768269 21 ALL relapse snv ZNF746 missense E424K NM_001163474 10-PASKHT ZNF746 MISSENSE SNP Somatic 4 0.169 SQHIGH 25 32 57 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 155061 7 149172143 149172143 83 ALL relapse snv REPIN1 silent P364P NM_013400 10-PASKHT REPIN1 SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 10 31 41 0 21 21 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 29803 7 150069422 150069422 20 ALL relapse snv GIMAP7 missense V112I NM_153236 10-PASKHT GIMAP7 MISSENSE SNP dbsnp.134:rs138568397 Somatic 6 0.229 SQHIGH 27 51 78 1 54 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 168537 7 150217396 150217396 61 ALL relapse snv DPP6 missense P89L NM_130797 10-PASKHT DPP6 MISSENSE SNP Somatic 5 0.200 SQHIGH 12 28 40 1 40 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1804 7 154143321 154143321 32 ALL relapse snv LOC100506585 EXON E12_exon NM_002847 10-PASKHT PTPRN2|LOC100506585 INTRON|UTR SNP Somatic 4 0.169 SQHIGH 20 48 68 0 50 50 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5799|100506585 7 157656402 157656402 54 ALL relapse snv CSMD1 missense V2536M NM_033225 10-PASKHT CSMD1 MISSENSE SNP Somatic 10 0.372 SQHIGH 18 31 49 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64478 8 2910038 2910038 42 ALL relapse snv DEFA5 missense R75H NM_021010 10-PASKHT DEFA5 MISSENSE SNP Somatic PFAM:PF00323:Defensin_1 2 0.134 SQHIGH 15 39 54 0 43 43 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1670 8 6913014 6913014 43 ALL relapse snv TNKS missense R245H NM_003747 10-PASKHT TNKS MISSENSE SNP Somatic PFAM:PF12796:Ank_2 -6 0.060 SQHIGH 9 42 51 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8658 8 9437729 9437729 28 ALL relapse snv DLC1 missense R665C NM_182643 10-PASKHT DLC1 MISSENSE SNP Somatic 0 0.107 SQHIGH 13 14 27 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10395 8 12957853 12957853 44 ALL relapse snv PDGFRL nonsense W307* NM_006207 10-PASKHT PDGFRL NONSENSE SNP Somatic PFAM:PF00047:ig 6 0.229 SQHIGH 21 32 53 1 50 51 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5157 8 17491704 17491704 61 ALL relapse snv CSGALNACT1 missense R336Q NM_001130518 10-PASKHT CSGALNACT1 MISSENSE,UTR SNP Somatic PFAM:PF01644:Chitin_synth_1 13 0.549 SQHIGH 44 39 83 1 61 62 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55790 8 19277976 19277976 122 ALL relapse snv GFRA2 silent S213S NM_001495 10-PASKHT GFRA2 SYNONYMOUS SNP Somatic PFAM:PF02351:GDNF 3 0.149 SQHIGH 38 30 68 0 46 46 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2675 8 21608255 21608255 112 ALL relapse snv SCARA5 missense R249W NM_173833 10-PASKHT LOC100652947|SCARA5 INTRON|MISSENSE SNP Somatic -2 0.086 SQHIGH 9 24 33 1 26 27 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100652947|286133 8 27779259 27779259 18 ALL relapse snv SCARA5 silent A210A NM_173833 10-PASKHT LOC100652947|SCARA5 INTRON|SYNONYMOUS SNP Somatic 12 0.482 SQHIGH 15 21 36 0 27 27 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100652947|286133 8 27779374 27779374 43 ALL relapse snv NRG1 missense R247W NM_013962 10-PASKHT NRG1 INTRON,MISSENSE SNP Somatic 5 0.200 SQHIGH 17 42 59 0 34 34 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3084 8 31498239 31498239 38 ALL relapse snv PLEKHA2 missense R212Q NM_021623 10-PASKHT PLEKHA2 MISSENSE SNP Somatic 1 0.118 SQHIGH 15 57 72 0 63 63 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 59339 8 38810155 38810155 44 ALL relapse snv PXDNL silent H812H NM_144651 10-PASKHT PXDNL SYNONYMOUS SNP Somatic 1 0.118 SQHIGH 11 49 60 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 137902 8 52321748 52321748 31 ALL relapse snv RB1CC1 missense R550H NM_014781 10-PASKHT RB1CC1 MISSENSE SNP Somatic 12 0.482 SQHIGH 10 18 28 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9821 8 53573196 53573196 33 ALL relapse snv RGS20 missense A207T NM_170587 10-PASKHT RGS20 MISSENSE SNP Somatic 16 0.814 SQHIGH 20 14 34 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8601 8 54852244 54852244 61 ALL relapse snv SBF1P1 EXON E2_exon NM_052898 10-PASKHT SBF1P1|XKR4 UTR|INTRON SNP Somatic 4 0.169 SQHIGH 27 38 65 0 42 42 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100133234|114786 8 56362925 56362925 70 ALL relapse snv PLAG1 missense S377L NM_002655 10-PASKHT PLAG1 MISSENSE SNP Somatic 7 0.259 SQHIGH 15 31 46 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5324 8 57079175 57079175 51 ALL relapse snv ADHFE1 nonsense R379* NM_144650 10-PASKHT ADHFE1 NONSENSE SNP Somatic PFAM:PF00465:Fe-ADH 1 0.118 SQHIGH 7 20 27 0 15 15 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 137872 8 67369374 67369374 15 ALL relapse snv RDH10 missense R313Q NM_172037 10-PASKHT RDH10 MISSENSE SNP Somatic 9 0.329 SQHIGH 13 30 43 0 58 58 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 157506 8 74235183 74235183 53 ALL relapse snv ZFHX4-AS1 EXON E1_exon NM_024721 10-PASKHT LOC100192378|ZFHX4 UTR|INTRON SNP Somatic -5 0.064 SQHIGH 10 17 27 0 21 21 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100192378|79776 8 77595390 77595390 29 ALL relapse snv ZFHX4 missense A900V NM_024721 10-PASKHT ZFHX4 MISSENSE SNP Somatic 13 0.549 SQHIGH 23 21 44 2 39 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79776 8 77619889 77619889 61 ALL relapse snv PSKH2 silent A383A NM_033126 10-PASKHT PSKH2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 24 21 45 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 85481 8 87060700 87060700 60 ALL relapse snv MMP16 silent P55P NM_005941 10-PASKHT MMP16 SYNONYMOUS SNP Somatic PFAM:PF01471:PG_binding_1 7 0.259 SQHIGH 5 8 13 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4325 8 89209503 89209503 28 ALL relapse snv CPQ missense V226M NM_016134 10-PASKHT CPQ MISSENSE SNP Somatic 9 0.329 SQHIGH 14 27 41 0 59 59 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10404 8 97892060 97892060 61 ALL relapse snv MATN2 silent S841S NM_002380 10-PASKHT MATN2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 21 52 73 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4147 8 99044487 99044487 48 ALL relapse snv SPAG1 missense P799L NM_003114 10-PASKHT SPAG1 MISSENSE SNP Somatic 11 0.425 SQHIGH 9 20 29 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6674 8 101252746 101252746 33 ALL relapse snv FZD6 missense A55T NM_003506 10-PASKHT FZD6 MISSENSE SNP Somatic -4 0.070 SQHIGH 9 41 50 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8323 8 104312498 104312498 23 ALL relapse snv ZFPM2 nonsense R364* NM_012082 10-PASKHT ZFPM2 NONSENSE SNP Somatic 1 0.118 SQHIGH 18 55 73 0 59 59 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23414 8 106813400 106813400 51 ALL relapse snv KCNV1 missense R430H NM_014379 10-PASKHT KCNV1 MISSENSE SNP Somatic 11 0.425 SQHIGH 28 41 69 1 57 58 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 27012 8 110980531 110980531 76 ALL relapse snv CSMD3 silent F3315F NM_198123 10-PASKHT CSMD3 SYNONYMOUS SNP Somatic 14 0.630 SQHIGH 10 14 24 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 114788 8 113267574 113267574 45 ALL relapse snv CSMD3 missense P2518A NM_198123 10-PASKHT CSMD3 MISSENSE SNP Somatic 15 0.748 SQHIGH 14 15 29 0 23 23 Cosmic_Gene G G C G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 114788 8 113326279 113326279 44 ALL relapse snv CSMD3 splice_region G2517_E49splice_region NM_198123 10-PASKHT CSMD3 ACCEPTOR SNP Somatic 1 0.118 SQHIGH 12 11 23 0 21 21 Cosmic_Gene G G T G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 114788 8 113326287 113326287 42 ALL relapse snv RAD21 missense S185N NM_006265 10-PASKHT RAD21 MISSENSE SNP Somatic 1 0.118 SQHIGH 8 27 35 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5885 8 117869640 117869640 23 ALL relapse snv COL14A1 missense D761N NM_021110 10-PASKHT COL14A1 MISSENSE SNP Somatic PFAM:PF00041:fn3 10 0.372 SQHIGH 20 29 49 0 30 30 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7373 8 121243789 121243789 50 ALL relapse snv FAM91A1 missense R377C NM_144963 10-PASKHT FAM91A1 MISSENSE SNP Somatic 2 0.134 SQHIGH 5 18 23 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 157769 8 124799551 124799551 18 ALL relapse snv TATDN1 missense R167Q NM_032026 10-PASKHT TATDN1 MISSENSE,UTR SNP Somatic 12 0.482 SQHIGH 18 24 42 0 43 43 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83940 8 125520731 125520731 65 ALL relapse snv ZNF572 missense R292Q NM_152412 10-PASKHT ZNF572 MISSENSE SNP Somatic 4 0.169 SQHIGH 10 32 42 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 137209 8 125989385 125989385 34 ALL relapse snv POU5F1B missense A74V NM_001159542 10-PASKHT POU5F1B MISSENSE SNP Somatic 9 0.329 SQHIGH 28 37 65 0 42 42 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5462 8 128428332 128428332 74 ALL relapse snv EFR3A nonsense R692* NM_015137 10-PASKHT EFR3A NONSENSE SNP Somatic 16 0.814 SQHIGH 11 13 24 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23167 8 133008661 133008661 41 ALL relapse snv TG silent D1582D NM_003235 10-PASKHT TG SYNONYMOUS SNP Somatic 14 0.630 SQHIGH 27 29 56 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7038 8 133941367 133941367 77 ALL relapse snv COL22A1 missense P1620L NM_152888 10-PASKHT COL22A1 MISSENSE SNP dbsnp.134:rs148594998 Somatic 5 0.200 SQHIGH 22 33 55 0 27 27 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 169044 8 139601518 139601518 46 ALL relapse snv COL22A1 missense G1008R NM_152888 10-PASKHT COL22A1 MISSENSE SNP dbsnp.134:rs147847724 Somatic 2 0.134 SQHIGH 17 49 66 1 46 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 169044 8 139691910 139691910 34 ALL relapse snv COL22A1 missense A162T NM_152888 10-PASKHT COL22A1 MISSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 3 0.149 SQHIGH 13 28 41 0 22 22 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 169044 8 139890167 139890167 28 ALL relapse snv TRAPPC9 missense V1105I NM_031466 10-PASKHT TRAPPC9 MISSENSE SNP Somatic PFAM:PF08626:TRAPPC9-Trs120 1 0.118 SQHIGH 16 35 51 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83696 8 140898159 140898159 48 ALL relapse snv BAI1 silent S1554S NM_001702 10-PASKHT BAI1 SYNONYMOUS SNP Somatic -10 0.043 SQHIGH 5 10 15 0 12 12 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 575 8 143625685 143625685 14 ALL relapse snv LY6E splice_region A18_E3splice_region NM_002346 10-PASKHT LY6E|LOC100133669 ACCEPTOR|TSS-UPSTREAM SNP Somatic -1 0.095 SQHIGH 14 41 55 0 43 43 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4061|100133669 8 144102727 144102727 39 ALL relapse snv ZNF696 silent T288T NM_030895 10-PASKHT ZNF696 SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 30 22 52 0 28 28 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79943 8 144378709 144378709 75 ALL relapse snv ZC3H3 missense R93W NM_015117 10-PASKHT ZC3H3 MISSENSE SNP dbsnp.134:rs142270993 Somatic 5 0.200 SQHIGH 16 24 40 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23144 8 144621260 144621260 53 ALL relapse snv FAM83H splice_region S246_E4splice_region NM_198488 10-PASKHT FAM83H INTRON SNP Somatic 8 0.291 SQHIGH 15 31 46 2 40 42 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 286077 8 144811128 144811128 31 ALL relapse snv OPLAH silent D632D NM_017570 10-PASKHT OPLAH SYNONYMOUS SNP Somatic -7 0.055 SQHIGH 10 43 53 1 32 33 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26873 8 145111375 145111375 15 ALL relapse snv ADAMTSL1 missense R953W NM_001040272 10-PASKHT ADAMTSL1 MISSENSE SNP Somatic -6 0.060 SQHIGH 4 12 16 0 42 42 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 92949 9 18777084 18777084 24 ALL relapse snv DENND4C silent P512P NM_017925 10-PASKHT DENND4C SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 6 17 23 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55667 9 19316463 19316463 27 ALL relapse snv TUSC1 missense R90C NM_001004125 10-PASKHT TUSC1 MISSENSE SNP Somatic 3 0.149 SQHIGH 6 5 11 0 27 27 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 286319 9 25678052 25678052 38 ALL relapse snv TAF1L missense R286H NM_153809 10-PASKHT TAF1L MISSENSE SNP Somatic 17 0.911 SQHIGH 37 3 40 1 63 64 Cosmic_Gene C T T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 138474 9 32634721 32634721 228 ALL relapse snv NPR2 missense R601H NM_003995 10-PASKHT NPR2 MISSENSE SNP Somatic PFAM:PF03109:ABC1 -10 0.043 SQHIGH 5 28 33 0 66 66 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4882 9 35802591 35802591 25 ALL relapse snv TRMT10B missense R94H NM_144964 10-PASKHT TRMT10B MISSENSE SNP Somatic 8 0.291 SQHIGH 14 3 17 0 46 46 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 158234 9 37762668 37762668 107 ALL relapse snv PRKACG silent F186F NM_002732 10-PASKHT PRKACG SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 15 31 46 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5568 9 71628451 71628451 38 ALL relapse snv PRKACG silent P34P NM_002732 10-PASKHT PRKACG SYNONYMOUS SNP Somatic -8 0.051 SQHIGH 18 33 51 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5568 9 71628907 71628907 43 ALL relapse snv TJP2 missense R187Q NM_004817 10-PASKHT TJP2 MISSENSE SNP Somatic -2 0.086 SQHIGH 21 65 86 0 39 39 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9414 9 71836020 71836020 38 ALL relapse snv SMC5 nonsense Q641* NM_015110 10-PASKHT SMC5 NONSENSE SNP Somatic 5 0.200 SQHIGH 6 12 18 0 22 22 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23137 9 72933544 72933544 23 ALL relapse snv TRPM3 missense R425H NM_020952 10-PASKHT TRPM3 MISSENSE SNP Somatic -1 0.095 SQHIGH 14 28 42 1 27 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 80036 9 73240147 73240147 27 ALL relapse snv PCSK5 missense P404L NM_006200 10-PASKHT PCSK5 MISSENSE SNP Somatic 6 0.229 SQHIGH 25 40 65 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5125 9 78749027 78749027 61 ALL relapse snv PRUNE2 silent P779P NM_015225 10-PASKHT PRUNE2 SYNONYMOUS SNP Somatic -5 0.064 SQHIGH 21 63 84 0 60 60 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 158471 9 79324853 79324853 54 ALL relapse snv PRUNE2 missense R652Q NM_015225 10-PASKHT PRUNE2 MISSENSE SNP Somatic 6 0.229 SQHIGH 22 32 54 0 39 39 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 158471 9 79325235 79325235 62 ALL relapse snv TLE1 silent H654H NM_005077 10-PASKHT TLE1 SYNONYMOUS SNP Somatic -8 0.051 SQHIGH 11 17 28 0 14 14 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7088 9 84202611 84202611 23 ALL relapse snv SPATA31D1 missense P731L NM_001001670 10-PASKHT SPATA31D1 MISSENSE SNP Somatic 3 0.149 SQHIGH 36 72 108 0 80 80 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 389763 9 84607577 84607577 100 ALL relapse snv SPATA31D1 missense R1532Q NM_001001670 10-PASKHT SPATA31D1 MISSENSE SNP Somatic -1 0.095 SQHIGH 15 65 80 0 49 49 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 389763 9 84609980 84609980 34 ALL relapse snv C9orf170 missense R5H NM_001001709 10-PASKHT C9orf170 MISSENSE SNP Somatic -4 0.070 SQHIGH 11 33 44 0 26 26 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 401535 9 89763659 89763659 25 ALL relapse snv CDK20 missense R139Q NM_178432 10-PASKHT CDK20 MISSENSE SNP Somatic PFAM:PF03109:ABC1 2 0.134 SQHIGH 41 86 127 0 72 72 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23552 9 90586063 90586063 92 ALL relapse snv LOC100128361 EXON E11_exon NM_022755 10-PASKHT LOC100128361|IPPK UTR|INTRON SNP Somatic 5 0.200 SQHIGH 19 39 58 1 51 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100128361|64768 9 95382069 95382069 49 ALL relapse snv WNK2 missense P568L NM_006648 10-PASKHT WNK2 MISSENSE SNP Somatic 1 0.118 SQHIGH 19 35 54 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 65268 9 96009985 96009985 45 ALL relapse snv WNK2 missense R1901W NM_006648 10-PASKHT WNK2 MISSENSE SNP Somatic 8 0.291 SQHIGH 24 35 59 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 65268 9 96055448 96055448 52 ALL relapse snv PHF2 splice_region E443_E11splice_region NM_005392 10-PASKHT PHF2 INTRON SNP Somatic 1 0.118 SQHIGH 36 62 98 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5253 9 96421891 96421891 70 ALL relapse snv PHF2 missense R467Q NM_005392 10-PASKHT PHF2 MISSENSE SNP Somatic 5 0.200 SQHIGH 9 24 33 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5253 9 96422544 96422544 29 ALL relapse snv GABBR2 silent T391T NM_005458 10-PASKHT GABBR2 SYNONYMOUS SNP Somatic PFAM:PF01094:ANF_receptor 1 0.118 SQHIGH 33 57 90 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9568 9 101216326 101216326 59 ALL relapse snv GABBR2 silent C108C NM_005458 10-PASKHT GABBR2 SYNONYMOUS SNP dbsnp.134:rs145095054 Somatic PFAM:PF01094:ANF_receptor -1 0.095 SQHIGH 27 83 110 1 60 61 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9568 9 101340352 101340352 46 ALL relapse snv COL15A1 missense R184H NM_001855 10-PASKHT COL15A1 MISSENSE SNP dbsnp.134:rs138366672 Somatic PFAM:PF00354:Pentaxin -10 0.043 SQHIGH 11 58 69 1 48 49 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1306 9 101748297 101748297 19 ALL relapse snv OR13D1 silent Y284Y NM_001004484 10-PASKHT OR13D1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 0 0.107 SQHIGH 22 65 87 2 71 73 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 286365 9 107457554 107457554 45 ALL relapse snv ZNF462 missense R1680H NM_021224 10-PASKHT ZNF462 MISSENSE SNP Somatic -2 0.086 SQHIGH 20 104 124 0 57 57 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 58499 9 109691232 109691232 35 ALL relapse snv KLF4 missense R448H NM_004235 10-PASKHT KLF4 MISSENSE SNP Somatic 5 0.200 SQHIGH 25 42 67 0 49 49 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9314 9 110248129 110248129 70 ALL relapse snv PTPN3 missense G813S NM_002829 10-PASKHT PTPN3 MISSENSE,UTR SNP Somatic 0 0.107 SQHIGH 15 56 71 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5774 9 112144673 112144673 34 ALL relapse snv SVEP1 missense R2037W NM_153366 10-PASKHT SVEP1 MISSENSE SNP Somatic PFAM:PF00084:Sushi -8 0.051 SQHIGH 8 51 59 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79987 9 113173882 113173882 17 ALL relapse snv SVEP1 missense R902Q NM_153366 10-PASKHT SVEP1 MISSENSE SNP Somatic 1 0.118 SQHIGH 13 45 58 1 43 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79987 9 113234498 113234498 26 ALL relapse snv SVEP1 missense R496C NM_153366 10-PASKHT SVEP1 MISSENSE SNP Somatic 5 0.200 SQHIGH 20 45 65 1 32 33 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79987 9 113261516 113261516 31 ALL relapse snv LPAR1 missense R233C NM_001401 10-PASKHT LPAR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.200 SQHIGH 24 51 75 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1902 9 113703797 113703797 54 ALL relapse snv LPAR1 missense V177I NM_001401 10-PASKHT LPAR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 2 0.134 SQHIGH 15 41 56 0 56 56 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1902 9 113703965 113703965 50 ALL relapse snv OR2K2 missense R54C NM_205859 10-PASKHT OR2K2 MISSENSE SNP dbsnp.132:rs117283259 Somatic PFAM:PF00001:7tm_1 1 0.118 SQHIGH 31 73 104 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26248 9 114090554 114090554 62 ALL relapse snv KIAA0368 missense R515H NM_001080398 10-PASKHT KIAA0368 MISSENSE SNP Somatic PFAM:PF13001:Ecm29 11 0.425 SQHIGH 7 15 22 0 20 20 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23392 9 114190362 114190362 22 ALL relapse snv COL27A1 missense V523I NM_032888 10-PASKHT COL27A1 MISSENSE SNP dbsnp.134:rs143993841 Somatic -4 0.070 SQHIGH 28 58 86 1 49 50 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 85301 9 116931402 116931402 53 ALL relapse snv TNC silent T1915T NM_002160 10-PASKHT TNC SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 24 48 72 0 42 42 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3371 9 117797525 117797525 55 ALL relapse snv BRINP1 silent S733S NM_014618 10-PASKHT BRINP1 SYNONYMOUS SNP Somatic -3 0.077 SQHIGH 19 97 116 0 61 61 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1620 9 121929449 121929449 37 ALL relapse snv DAB2IP missense R305C NM_032552 10-PASKHT DAB2IP MISSENSE SNP Somatic 5 0.200 SQHIGH 23 74 97 1 58 59 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 153090 9 124522545 124522545 42 ALL relapse snv OR1J4 missense R131C NM_001004452 10-PASKHT OR1J4 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.200 SQHIGH 29 69 98 0 60 60 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26219 9 125281810 125281810 68 ALL relapse snv GPR21 missense R283H NM_005294 10-PASKHT GPR21|RABGAP1 MISSENSE|INTRON SNP Somatic PFAM:PF00001:7tm_1 5 0.200 SQHIGH 27 75 102 1 63 64 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2844|23637 9 125797693 125797693 53 ALL relapse snv CRB2 silent C629C NM_173689 10-PASKHT CRB2 SYNONYMOUS SNP dbsnp.134:rs147850317 Somatic -1 0.095 SQHIGH 45 76 121 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 286204 9 126133219 126133219 82 ALL relapse snv GOLGA1 splice_region A388_E14splice_region NM_002077 10-PASKHT GOLGA1 ACCEPTOR SNP Somatic 5 0.200 SQHIGH 23 67 90 0 47 47 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2800 9 127661762 127661762 47 ALL relapse snv HSPA5 missense R532H NM_005347 10-PASKHT HSPA5 MISSENSE SNP Somatic PFAM:PF00012:HSP70 3 0.149 SQHIGH 15 48 63 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3309 9 127999241 127999241 33 ALL relapse snv SH2D3C missense R856H NM_170600 10-PASKHT TOR2A|SH2D3C TSS-UPSTREAM|MISSENSE SNP Somatic 5 0.200 SQHIGH 23 40 63 0 27 27 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 27433|10044 9 130501041 130501041 42 ALL relapse snv SPTAN1 silent R2358R NM_001130438 10-PASKHT SPTAN1 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 21 57 78 0 42 42 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6709 9 131394911 131394911 44 ALL relapse snv NUP188 missense R1154C NM_015354 10-PASKHT NUP188 MISSENSE SNP Somatic 5 0.200 SQHIGH 19 42 61 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23511 9 131760847 131760847 57 ALL relapse snv CRAT missense V569M NM_000755 10-PASKHT CRAT MISSENSE,UTR SNP Somatic PFAM:PF00755:Carn_acyltransf -2 0.086 SQHIGH 15 66 81 2 48 50 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1384 9 131857852 131857852 19 ALL relapse snv NTMT1 missense P119L NM_001286800 10-PASKHT METTL11A|ASB6 SYNONYMOUS|UTR3 SNP Somatic PFAM:PF00398:RrnaAD 2 0.134 SQHIGH 14 54 68 1 42 43 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 28989|140459 9 132397512 132397512 24 ALL relapse snv FUBP3 silent G245G NM_003934 10-PASKHT FUBP3 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 26 66 92 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8939 9 133495809 133495809 47 ALL relapse snv NUP214 missense R865Q NM_005085 10-PASKHT NUP214 MISSENSE SNP dbsnp.134:rs138239623 Somatic -5 0.064 SQHIGH 9 57 66 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8021 9 134038431 134038431 24 ALL relapse snv C9orf171 missense R211W NM_207417 10-PASKHT C9orf171 MISSENSE SNP Somatic 6 0.229 SQHIGH 22 54 76 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 389799 9 135374986 135374986 49 ALL relapse snv GTF3C4 missense R759H NM_012204 10-PASKHT GTF3C4 MISSENSE SNP Somatic PFAM:PF12660:zf-TFIIIC 3 0.149 SQHIGH 30 63 93 0 49 49 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9329 9 135559041 135559041 64 ALL relapse snv SLC2A6 silent T140T NM_017585 10-PASKHT SLC2A6 SYNONYMOUS SNP Somatic PFAM:PF00083:Sugar_tr 6 0.229 SQHIGH 20 55 75 0 23 23 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11182 9 136342199 136342199 26 ALL relapse snv COL5A1 missense D1657N NM_000093 10-PASKHT COL5A1 MISSENSE SNP Somatic PFAM:PF01410:COLFI -3 0.077 SQHIGH 21 53 74 0 49 49 COSMIC:mut:70260 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1289 9 137717652 137717652 52 ALL relapse snv OLFM1 missense R382H NM_014279 10-PASKHT OLFM1 MISSENSE SNP Somatic PFAM:PF02191:OLF 6 0.229 SQHIGH 31 39 70 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10439 9 138011765 138011765 80 ALL relapse snv KCNT1 missense R928C NM_020822 10-PASKHT KCNT1 MISSENSE SNP Somatic -1 0.095 SQHIGH 18 27 45 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57582 9 138671257 138671257 46 ALL relapse snv ABCA2 missense A794V NM_001606 10-PASKHT ABCA2 MISSENSE SNP Somatic 4 0.169 SQHIGH 21 68 89 1 44 45 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 20 9 139911975 139911975 32 ALL relapse snv UAP1L1 silent S469S NM_207309 10-PASKHT MAN1B1|UAP1L1 TSS-UPSTREAM|SYNONYMOUS SNP dbsnp.134:rs142994027 Somatic -1 0.095 SQHIGH 27 95 122 0 87 87 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11253|91373 9 139976492 139976492 69 ALL relapse snv ANAPC2 missense R520H NM_013366 10-PASKHT ANAPC2 MISSENSE SNP Somatic -7 0.055 SQHIGH 10 43 53 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 29882 9 140075291 140075291 22 ALL relapse snv ANAPC2 missense V376M NM_013366 10-PASKHT ANAPC2|SSNA1 MISSENSE|TSS-UPSTREAM SNP Somatic -2 0.086 SQHIGH 8 38 46 0 24 24 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 29882|8636 9 140078166 140078166 16 ALL relapse snv CACNB2 silent Y239Y NM_000724 10-PASKHT CACNB2 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 5 0.200 SQHIGH 12 30 42 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 783 10 18807342 18807342 38 ALL relapse snv MLLT10 nonsense R111* NM_001195628 10-PASKHT MLLT10 UTR3,INTRON,NONSENSE SNP Somatic 8 0.291 SQHIGH 23 34 57 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8028 10 21845662 21845662 72 ALL relapse snv GPR158 missense R252H NM_020752 10-PASKHT GPR158|LOC100128811 MISSENSE|UTR SNP Somatic 0 0.107 SQHIGH 7 20 27 0 25 25 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57512|100128811 10 25465104 25465104 22 ALL relapse snv OR13A1 missense V265M NM_001004297 10-PASKHT OR13A1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 17 0.911 SQHIGH 21 19 40 0 38 38 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79290 10 45799078 45799078 76 ALL relapse snv DRGX silent R214R NM_001276451 10-PASKHT DRGX SYNONYMOUS SNP Somatic PFAM:PF03826:OAR 15 0.748 SQHIGH 14 25 39 1 33 34 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 644168 10 50574311 50574311 34 ALL relapse snv CHAT splice_region D253_E7splice_region NM_001142929 10-PASKHT CHAT INTRON SNP Somatic 5 0.200 SQHIGH 18 46 64 0 50 50 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1103 10 50835838 50835838 50 ALL relapse snv ANK3 missense T1609M NM_020987 10-PASKHT ANK3 INTRON,MISSENSE SNP dbsnp.134:rs148024054 Somatic -8 0.051 SQHIGH 9 8 17 0 19 19 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 288 10 61835813 61835813 36 ALL relapse snv PBLD missense R114Q NM_022129 10-PASKHT PBLD MISSENSE SNP Somatic PFAM:PF01678:DAP_epimerase 4 0.169 SQHIGH 15 40 56 0 52 52 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64081 10 70051938 70051938 48 ALL relapse snv TET1 missense R1783W NM_030625 10-PASKHT TET1 MISSENSE SNP Somatic 7 0.259 SQHIGH 20 50 70 0 68 68 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 80312 10 70446407 70446407 66 ALL relapse snv SAR1A missense V85A NM_001142648 10-PASKHT SAR1A MISSENSE SNP Somatic 16 0.814 SQHIGH 24 25 49 0 38 38 A A G A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56681 10 71917614 71917614 74 ALL relapse snv CDH23 missense R702W NM_022124 10-PASKHT CDH23 MISSENSE SNP Somatic 10 0.372 SQHIGH 34 39 73 2 61 63 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64072 10 73450269 73450269 88 ALL relapse snv KAT6B missense G1698S NM_012330 10-PASKHT KAT6B MISSENSE SNP Somatic -1 0.095 SQHIGH 11 54 65 0 54 54 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23522 10 76789674 76789674 31 ALL relapse snv LRIT1 missense R473W NM_015613 10-PASKHT LRIT1 MISSENSE SNP dbsnp.129:rs61729470 Somatic PFAM:PF00041:fn3 5 0.200 SQHIGH 12 36 48 0 39 39 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26103 10 85992138 85992138 34 ALL relapse snv GRID1 missense R462C NM_017551 10-PASKHT GRID1 MISSENSE SNP Somatic 9 0.329 SQHIGH 32 38 70 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2894 10 87487761 87487761 82 ALL relapse snv SNCG missense E57K NM_003087 10-PASKHT SNCG|MMRN2 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF01387:Synuclein 8 0.291 SQHIGH 25 38 63 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6623|79812 10 88719763 88719763 76 ALL relapse snv ADIRF missense A26V NM_006829 10-PASKHT C10orf116|AGAP11|LOC100133190 MISSENSE|TSS-UPSTREAM|UTR SNP Somatic 6 0.229 SQHIGH 28 38 66 1 48 49 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10974|119385|100133190 10 88729972 88729972 69 ALL relapse snv LGI1 missense R533C NM_005097 10-PASKHT LGI1 MISSENSE SNP Somatic PFAM:PF03736:EPTP 5 0.200 SQHIGH 22 57 79 0 73 73 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9211 10 95557483 95557483 70 ALL relapse snv SLIT1 missense R208W NM_003061 10-PASKHT SLIT1 MISSENSE SNP Somatic 8 0.291 SQHIGH 12 37 49 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6585 10 98823932 98823932 23 ALL relapse snv HPS1 silent P259P NM_000195 10-PASKHT HPS1 SYNONYMOUS SNP dbsnp.134:rs140552558 Somatic 9 0.329 SQHIGH 39 31 70 1 48 49 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3257 10 100189638 100189638 103 ALL relapse snv PSD missense R24H NM_002779 10-PASKHT FBXL15|PSD TSS-UPSTREAM|MISSENSE SNP Somatic -5 0.064 SQHIGH 9 17 26 0 18 18 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79176|5662 10 104176725 104176725 24 ALL relapse snv SORCS1 missense R126Q NM_052918 10-PASKHT SORCS1 MISSENSE SNP Somatic 7 0.259 SQHIGH 20 27 47 1 32 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 114815 10 108923908 108923908 45 ALL relapse snv SORCS1 silent S105S NM_052918 10-PASKHT SORCS1 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 15 29 44 1 36 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 114815 10 108923970 108923970 36 ALL relapse snv PNLIP splice G191_E6splice NM_000936 10-PASKHT PNLIP DISRUPT SNP Somatic 15 0.748 SQHIGH 29 27 56 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5406 10 118313351 118313351 88 ALL relapse snv KIAA1598 missense R545C NM_001127211 10-PASKHT KIAA1598 INTRON,MISSENSE SNP Somatic 8 0.291 SQHIGH 14 35 49 0 55 55 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57698 10 118661316 118661316 51 ALL relapse snv VAX1 missense R128H NM_001112704 10-PASKHT VAX1 MISSENSE SNP Somatic 8 0.291 SQHIGH 24 33 57 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11023 10 118896029 118896029 70 ALL relapse snv FAM204A silent P120P NM_022063 10-PASKHT FAM204A SYNONYMOUS SNP Somatic 8 0.291 SQHIGH 9 28 37 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 63877 10 120094719 120094719 28 ALL relapse snv FAM175B silent T101T NM_032182 10-PASKHT FAM175B SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 13 17 30 0 34 34 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23172 10 126515199 126515199 50 ALL relapse snv CFAP46 missense T664M NM_001200049 10-PASKHT CFAP46 MISSENSE SNP Somatic 7 0.259 SQHIGH 32 30 62 0 34 34 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100506209 10 134730182 134730182 78 ALL relapse snv MUC6 missense A72V NM_005961 10-PASKHT MUC6 MISSENSE SNP Somatic PFAM:PF00094:VWD -4 0.070 SQHIGH 11 46 57 1 48 49 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4588 11 1031954 1031954 24 ALL relapse snv MUC5B silent P1612P NM_002458 10-PASKHT MUC5B SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 30 34 64 1 34 35 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 727897 11 1262946 1262946 59 ALL relapse snv OR52M1 silent C244C NM_001004137 10-PASKHT OR52M1 SYNONYMOUS SNP dbsnp.129:rs61734237 Somatic PFAM:PF00001:7tm_1 -4 0.070 SQHIGH 8 55 63 0 52 52 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 119772 11 4567152 4567152 22 ALL relapse snv OR51D1 missense R135C NM_001004751 10-PASKHT OR51D1|OR51E1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00001:7tm_1 -9 0.047 SQHIGH 8 51 59 0 57 57 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 390038|143503 11 4661423 4661423 25 ALL relapse snv DNHD1 silent T267T NM_144666 10-PASKHT DNHD1 SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 58 62 120 3 94 97 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 144132 11 6524037 6524037 146 ALL relapse snv DCHS1 silent S419S NM_003737 10-PASKHT DCHS1 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 25 50 75 0 68 68 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8642 11 6661588 6661588 80 ALL relapse snv OR2AG2 missense A83V NM_001004490 10-PASKHT OR2AG2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 3 0.149 SQHIGH 34 55 89 0 77 78 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 338755 11 6789941 6789941 108 ALL relapse snv OR10A3 missense P183L NM_001003745 10-PASKHT OR10A3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.200 SQHIGH 21 39 60 0 64 64 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26496 11 7960520 7960520 76 ALL relapse snv OTOG missense V649M NM_001277269 10-PASKHT OTOG MISSENSE SNP Somatic PFAM:PF00094:VWD 4 0.169 SQHIGH 22 54 76 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 340990 11 17591891 17591891 56 ALL relapse snv OTOG missense T1850M NM_001277269 10-PASKHT OTOG MISSENSE SNP Somatic 8 0.291 SQHIGH 39 46 85 0 52 52 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 340990 11 17632360 17632360 100 ALL relapse snv C11orf91 silent S189S NM_001166692 10-PASKHT C11orf91 SYNONYMOUS SNP dbsnp.134:rs141161902 Somatic -7 0.055 SQHIGH 28 22 50 1 40 41 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100131378 11 33719990 33719990 81 ALL relapse snv PHF21A missense R359Q NM_001101802 10-PASKHT PHF21A MISSENSE SNP Somatic 15 0.748 SQHIGH 15 21 36 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51317 11 45975094 45975094 45 ALL relapse snv ZNF408 missense V472M NM_024741 10-PASKHT ZNF408|ARHGAP1 MISSENSE|TSS-UPSTREAM SNP Somatic 5 0.200 SQHIGH 19 28 47 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79797|392 11 46726664 46726664 65 ALL relapse snv FNBP4 splice G822_E15splice NM_015308 10-PASKHT FNBP4 MISSENSE SNP Somatic -8 0.051 SQHIGH 6 36 42 0 26 26 Cosmic_Gene C C A C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23360 11 47744868 47744868 13 ALL relapse snv PTPRJ missense G845R NM_002843 10-PASKHT LOC100287223|PTPRJ TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.259 SQHIGH 19 32 51 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100287223|5795 11 48164560 48164560 67 ALL relapse snv OR4P4 missense P259L NM_001004124 10-PASKHT OR4P4 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.200 SQHIGH 22 37 59 0 52 52 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 81300 11 55406609 55406609 70 ALL relapse snv DTX4 missense R259Q NM_015177 10-PASKHT DTX4 MISSENSE SNP Somatic 11 0.425 SQHIGH 36 42 78 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23220 11 58949776 58949776 103 ALL relapse snv PATL1 silent T715T NM_152716 10-PASKHT LOC100507411|PATL1 INTRON|SYNONYMOUS SNP Somatic 9 0.329 SQHIGH 37 49 86 0 65 65 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100507411|219988 11 59406667 59406667 109 ALL relapse snv ZP1 silent I569I NM_207341 10-PASKHT ZP1 SYNONYMOUS SNP Somatic 10 0.372 SQHIGH 30 30 60 0 74 74 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 22917 11 60642654 60642654 128 ALL relapse snv TMEM132A missense R592C NM_017870 10-PASKHT TMEM132A MISSENSE SNP Somatic 16 0.814 SQHIGH 18 21 39 1 33 34 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 54972 11 60702171 60702171 49 ALL relapse snv INCENP missense R579H NM_001040694 10-PASKHT INCENP MISSENSE SNP Somatic 3 0.149 SQHIGH 12 31 43 1 45 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3619 11 61912661 61912661 33 ALL relapse snv AHNAK missense R123H NM_001620 10-PASKHT AHNAK INTRON,MISSENSE SNP Somatic 10 0.372 SQHIGH 35 40 75 0 72 72 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79026 11 62301521 62301521 125 ALL relapse snv FERMT3 missense A296T NM_178443 10-PASKHT FERMT3 MISSENSE SNP Somatic PFAM:PF00373:FERM_M 5 0.200 SQHIGH 26 41 67 0 57 57 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83706 11 63986822 63986822 82 ALL relapse snv NRXN2 missense R513H NM_015080 10-PASKHT NRXN2 MISSENSE SNP Somatic 8 0.291 SQHIGH 18 21 39 1 27 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9379 11 64434982 64434982 41 ALL relapse snv PCNXL3 splice_region R114_E3splice_region NM_032223 10-PASKHT PCNXL3|MAP3K11 ACCEPTOR|TSS-UPSTREAM SNP Somatic 7 0.259 SQHIGH 21 37 58 1 56 57 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 399909|4296 11 65384716 65384716 61 ALL relapse snv TMEM151A missense R382H NM_153266 10-PASKHT TMEM151A MISSENSE SNP Somatic 7 0.259 SQHIGH 10 12 22 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 256472 11 66062862 66062862 38 ALL relapse snv NPAS4 missense P125A NM_178864 10-PASKHT NPAS4 MISSENSE SNP Somatic 4 0.169 SQHIGH 25 46 71 0 49 49 C C G C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 266743 11 66189967 66189967 66 ALL relapse snv CTSF missense R226H NM_003793 10-PASKHT CTSF MISSENSE SNP Somatic PFAM:PF08246:Inhibitor_I29 11 0.425 SQHIGH 26 30 56 2 48 50 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8722 11 66333806 66333806 66 ALL relapse snv CORO1B silent Q401Q NM_020441 10-PASKHT CORO1B|PTPRCAP SYNONYMOUS|TSS-UPSTREAM SNP Somatic 8 0.291 SQHIGH 29 31 60 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57175|5790 11 67206283 67206283 89 ALL relapse snv PITPNM1 missense R334C NM_004910 10-PASKHT PITPNM1 MISSENSE SNP Somatic 5 0.200 SQHIGH 23 31 54 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9600 11 67267448 67267448 60 ALL relapse snv DHCR7 missense A50T NM_001360 10-PASKHT DHCR7 MISSENSE SNP Somatic 4 0.169 SQHIGH 24 38 62 0 42 42 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1717 11 71155212 71155212 64 ALL relapse snv OR2AT4 silent T296T NM_001005285 10-PASKHT OR2AT4 SYNONYMOUS SNP Somatic 0 0.107 SQHIGH 15 18 33 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 341152 11 74799871 74799871 46 ALL relapse snv SERPINH1 missense R124H NM_001235 10-PASKHT SERPINH1 MISSENSE SNP Somatic PFAM:PF00079:Serpin -2 0.086 SQHIGH 16 14 30 0 21 21 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 871 11 75277765 75277765 47 ALL relapse snv WNT11 silent R324R NM_004626 10-PASKHT WNT11 SYNONYMOUS SNP Somatic PFAM:PF00110:wnt 9 0.329 SQHIGH 16 32 48 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7481 11 75898202 75898202 52 ALL relapse snv ANKRD42 nonsense R454* NM_001300972 10-PASKHT ANKRD42 SYNONYMOUS SNP Somatic 13 0.549 SQHIGH 17 23 40 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 338699 11 82959022 82959022 60 ALL relapse snv GRM5 silent D1036D NM_001143831 10-PASKHT GRM5 SYNONYMOUS SNP Somatic 10 0.372 SQHIGH 12 13 25 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2915 11 88242291 88242291 54 ALL relapse snv MTNR1B silent T195T NM_005959 10-PASKHT MTNR1B SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 0 0.107 SQHIGH 12 46 58 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4544 11 92714974 92714974 33 ALL relapse snv MED17 missense R583H NM_004268 10-PASKHT MED17 MISSENSE SNP Somatic 5 0.200 SQHIGH 13 31 44 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9440 11 93545022 93545022 39 ALL relapse snv FUT4 silent S416S NM_002033 10-PASKHT FUT4 SYNONYMOUS SNP Somatic PFAM:PF00852:Glyco_transf_10 8 0.291 SQHIGH 30 46 76 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2526 11 94278547 94278547 81 ALL relapse snv MMP1 silent T122T NM_002421 10-PASKHT LOC100288077|MMP1 INTRON|SYNONYMOUS SNP dbsnp.134:rs149654066 Somatic 4 0.169 SQHIGH 17 52 69 1 77 78 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100288077|4312 11 102667878 102667878 51 ALL relapse snv AASDHPPT missense R217H NM_015423 10-PASKHT AASDHPPT MISSENSE SNP Somatic 16 0.814 SQHIGH 20 24 44 0 33 33 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 60496 11 105962161 105962161 59 ALL relapse snv ARHGAP20 missense R701W NM_020809 10-PASKHT ARHGAP20 MISSENSE SNP Somatic 13 0.549 SQHIGH 29 34 63 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57569 11 110451569 110451569 90 ALL relapse snv ANKK1 silent S559S NM_178510 10-PASKHT ANKK1 SYNONYMOUS SNP dbsnp.132:rs114700049 Somatic PFAM:PF12796:Ank_2 1 0.118 SQHIGH 11 38 49 0 42 42 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 255239 11 113270368 113270368 32 ALL relapse snv TMPRSS5 missense R341Q NM_030770 10-PASKHT TMPRSS5 MISSENSE SNP Somatic 5 0.200 SQHIGH 34 44 78 1 53 54 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 80975 11 113561604 113561604 81 ALL relapse snv CEP164 missense R650W NM_014956 10-PASKHT CEP164 MISSENSE SNP dbsnp.134:rs145755063 Somatic 7 0.259 SQHIGH 26 25 51 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 22897 11 117261506 117261506 91 ALL relapse snv SLC37A4 silent I331I NM_001164277 10-PASKHT SLC37A4 SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 16 66 82 2 67 69 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2542 11 118896031 118896031 29 ALL relapse snv USP2 missense L60I NM_004205 10-PASKHT USP2 MISSENSE SNP Somatic 12 0.482 SQHIGH 14 24 38 0 25 25 Cosmic_Gene G G T G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9099 11 119244013 119244013 36 ALL relapse snv CLMP nonsense R82* NM_024769 10-PASKHT CLMP|LOC100652787 NONSENSE|UTR SNP Somatic PFAM:PF00047:ig 13 0.549 SQHIGH 16 31 47 1 58 59 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79827|100652787 11 122955364 122955364 53 ALL relapse snv OR10G7 silent S87S NM_001004463 10-PASKHT OR10G7 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 -1 0.095 SQHIGH 12 40 52 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 390265 11 123909448 123909448 37 ALL relapse snv HEPACAM splice_region V143_E3splice_region NM_152722 10-PASKHT HEPACAM ACCEPTOR SNP Somatic -7 0.055 SQHIGH 11 53 64 0 65 65 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 220296 11 124793914 124793914 36 ALL relapse snv KCNJ5 missense R52C NM_000890 10-PASKHT KCNJ5 MISSENSE SNP Somatic -1 0.095 SQHIGH 31 35 66 1 36 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3762 11 128781322 128781322 63 ALL relapse snv PRDM10 missense R636H NM_020228 10-PASKHT PRDM10 MISSENSE SNP Somatic 3 0.149 SQHIGH 25 27 52 0 45 45 COSMIC:mut:84122 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56980 11 129793282 129793282 83 ALL relapse snv PRDM10 missense V635M NM_020228 10-PASKHT PRDM10 MISSENSE SNP Somatic 13 0.549 SQHIGH 25 25 50 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56980 11 129793286 129793286 68 ALL relapse snv PRDM10 silent A206A NM_020228 10-PASKHT PRDM10 SYNONYMOUS SNP dbsnp.134:rs148466018 Somatic 5 0.200 SQHIGH 21 39 60 1 24 25 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56980 11 129814810 129814810 28 ALL relapse snv ST14 missense R607Q NM_021978 10-PASKHT ST14 MISSENSE SNP Somatic 0 0.107 SQHIGH 10 45 55 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6768 11 130069858 130069858 25 ALL relapse snv SNX19 missense R119H NM_014758 10-PASKHT SNX19 MISSENSE SNP Somatic PFAM:PF02194:PXA 0 0.107 SQHIGH 36 57 93 0 67 67 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 399979 11 130785479 130785479 100 ALL relapse snv B3GAT1 missense A51T NM_018644 10-PASKHT B3GAT1 MISSENSE SNP Somatic -1 0.095 SQHIGH 17 34 51 0 40 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 27087 11 134254044 134254044 49 ALL relapse snv ITFG2 missense R248C NM_018463 10-PASKHT ITFG2 MISSENSE SNP dbsnp.134:rs140247675 Somatic 0 0.107 SQHIGH 35 57 92 1 77 78 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55846 12 2930474 2930474 96 ALL relapse snv PRMT8 missense A20T NM_019854 10-PASKHT PRMT8|LOC100129223 MISSENSE|INTRON SNP Somatic 1 0.118 SQHIGH 14 54 68 2 45 47 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56341|100129223 12 3600849 3600849 20 ALL relapse snv GALNT8 missense A423T NM_017417 10-PASKHT GALNT8 MISSENSE SNP Somatic 6 0.229 SQHIGH 24 27 51 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26290 12 4870217 4870217 82 ALL relapse snv KCNA1 missense V224M NM_000217 10-PASKHT KCNA1 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 2 0.134 SQHIGH 23 61 84 1 78 80 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3736 12 5021214 5021214 62 ALL relapse snv KCNA5 missense V327M NM_002234 10-PASKHT KCNA5 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 14 0.630 SQHIGH 50 32 82 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3741 12 5154292 5154292 151 ALL relapse snv C1R splice I78_E3splice NM_001733 10-PASKHT C1R DISRUPT SNP Somatic -5 0.064 SQHIGH 9 32 41 1 41 42 T T G T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 715 12 7242846 7242846 22 ALL relapse snv ACSM4 missense R481H NM_001080454 10-PASKHT ACSM4 MISSENSE SNP dbsnp.129:rs61584783 Somatic PFAM:PF04443:LuxE -1 0.095 SQHIGH 13 50 63 0 45 45 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 341392 12 7477100 7477100 33 ALL relapse snv PZP silent L1220L NM_002864 10-PASKHT PZP SYNONYMOUS SNP Somatic PFAM:PF07678:A2M_comp 15 0.748 SQHIGH 30 27 57 0 58 58 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5858 12 9307326 9307326 114 ALL relapse snv CLEC1A missense K265R NM_016511 10-PASKHT CLEC1A MISSENSE SNP Somatic 6 0.229 SQHIGH 22 38 60 2 62 64 Cosmic_Gene T T C T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51267 12 10223981 10223981 59 ALL relapse snv LRP6 missense R990Q NM_002336 10-PASKHT LRP6 MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b 3 0.149 SQHIGH 29 45 74 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4040 12 12303795 12303795 78 ALL relapse snv GPRC5D silent P281P NM_018654 10-PASKHT GPRC5D SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 17 41 58 1 41 42 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55507 12 13102476 13102476 35 ALL relapse snv KIAA1467 splice_region G178_E3splice_region NM_020853 10-PASKHT KIAA1467 INTRON SNP Somatic 4 0.169 SQHIGH 23 49 72 0 49 49 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57613 12 13211493 13211493 59 ALL relapse snv ATF7IP missense R556H NM_018179 10-PASKHT ATF7IP MISSENSE SNP Somatic 8 0.291 SQHIGH 13 18 31 0 36 36 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55729 12 14589061 14589061 51 ALL relapse snv LMO3 missense R23W NM_018640 10-PASKHT LMO3 MISSENSE SNP Somatic 2 0.134 SQHIGH 23 27 50 0 24 24 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55885 12 16753728 16753728 49 ALL relapse snv PDE3A missense R44H NM_000921 10-PASKHT PDE3A MISSENSE SNP Somatic -10 0.043 SQHIGH 4 16 20 0 21 21 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5139 12 20522349 20522349 13 ALL relapse snv KCNJ8 missense R202Q NM_004982 10-PASKHT KCNJ8 MISSENSE SNP Somatic PFAM:PF07885:Ion_trans_2 -5 0.064 SQHIGH 9 55 64 0 51 51 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3764 12 21919327 21919327 24 ALL relapse snv METTL20 silent S62S NM_173802 10-PASKHT METTL20 SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 17 27 44 0 38 38 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 254013 12 31815073 31815073 54 ALL relapse snv FAM186B nonsense R776* NM_032130 10-PASKHT FAM186B NONSENSE,UTR SNP Somatic 5 0.200 SQHIGH 30 41 71 0 49 49 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84070 12 49992576 49992576 82 ALL relapse snv SLC4A8 missense R313H NM_001039960 10-PASKHT SLC4A8 MISSENSE SNP dbsnp.134:rs145771712 Somatic PFAM:PF07565:Band_3_cyto 5 0.200 SQHIGH 19 16 35 1 32 33 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9498 12 51853817 51853817 58 ALL relapse snv KRT73 missense R191Q NM_175068 10-PASKHT KRT73 MISSENSE SNP dbsnp.134:rs146681578 Somatic PFAM:PF00038:Filament 11 0.425 SQHIGH 18 27 45 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 319101 12 53010040 53010040 53 ALL relapse snv KRT3 missense R610Q NM_057088 10-PASKHT KRT3 MISSENSE SNP Somatic 9 0.329 SQHIGH 21 24 45 0 32 32 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3850 12 53183884 53183884 60 ALL relapse snv NCKAP1L missense R670H NM_005337 10-PASKHT NCKAP1L MISSENSE SNP Somatic PFAM:PF09735:Nckap1 4 0.169 SQHIGH 20 36 56 1 47 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3071 12 54917308 54917308 51 ALL relapse snv OR6C1 silent S70S NM_001005182 10-PASKHT OR6C1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 5 0.200 SQHIGH 11 32 43 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 390321 12 55714593 55714593 31 ALL relapse snv PAN2 missense V68M NM_001127460 10-PASKHT PAN2 MISSENSE SNP Somatic 6 0.229 SQHIGH 19 46 65 0 62 62 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9924 12 56726677 56726677 62 ALL relapse snv BAZ2A silent P485P NM_013449 10-PASKHT BAZ2A SYNONYMOUS SNP Somatic 12 0.482 SQHIGH 17 29 46 0 46 46 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11176 12 57005717 57005717 59 ALL relapse snv LRP1 missense V2470M NM_002332 10-PASKHT MIR1228|LRP1 TSS-UPSTREAM|MISSENSE SNP Somatic -6 0.060 SQHIGH 7 12 19 0 19 19 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100302201|4035 12 57585274 57585274 24 ALL relapse snv AVPR1A missense R149C NM_000706 10-PASKHT AVPR1A MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx -5 0.064 SQHIGH 10 24 34 0 28 28 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 552 12 63544172 63544172 29 ALL relapse snv IL22 silent V119V NM_020525 10-PASKHT IL22 SYNONYMOUS SNP Somatic PFAM:PF00726:IL10 5 0.200 SQHIGH 19 35 54 0 40 40 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 50616 12 68646323 68646323 53 ALL relapse snv TBC1D15 silent P316P NM_022771 10-PASKHT TBC1D15 SYNONYMOUS,UTR SNP Somatic 4 0.169 SQHIGH 9 30 39 0 47 47 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64786 12 72289768 72289768 33 ALL relapse snv ALX1 silent A44A NM_006982 10-PASKHT ALX1 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 16 42 58 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8092 12 85674171 85674171 55 ALL relapse snv DUSP6 missense S17N NM_001946 10-PASKHT DUSP6 MISSENSE SNP Somatic 11 0.425 SQHIGH 18 26 44 0 30 30 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1848 12 89745767 89745767 48 ALL relapse snv KERA missense R326C NM_007035 10-PASKHT KERA MISSENSE SNP Somatic 2 0.134 SQHIGH 18 40 58 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11081 12 91445206 91445206 53 ALL relapse snv SLC5A8 silent V55V NM_145913 10-PASKHT SLC5A8 SYNONYMOUS SNP Somatic PFAM:PF00474:SSF 11 0.425 SQHIGH 24 23 47 0 33 33 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 160728 12 101603462 101603462 70 ALL relapse snv ALDH1L2 missense R657C NM_001034173 10-PASKHT ALDH1L2 MISSENSE,UTR SNP Somatic PFAM:PF00171:Aldedh 14 0.630 SQHIGH 13 21 34 0 30 30 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 160428 12 105433567 105433567 42 ALL relapse snv DAO silent A188A NM_001917 10-PASKHT DAO SYNONYMOUS SNP Somatic PFAM:PF01266:DAO 1 0.118 SQHIGH 16 28 44 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1610 12 109288095 109288095 44 ALL relapse snv MVK silent S150S NM_000431 10-PASKHT MVK SYNONYMOUS SNP Somatic PFAM:PF00288:GHMP_kinases_N 6 0.229 SQHIGH 25 36 61 1 57 58 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4598 12 110019278 110019278 74 ALL relapse snv CUX2 missense R1150H NM_015267 10-PASKHT CUX2 MISSENSE SNP Somatic 16 0.814 SQHIGH 15 11 26 0 39 39 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23316 12 111779647 111779647 74 ALL relapse snv CIT missense R1936H NM_007174 10-PASKHT CIT MISSENSE SNP Somatic 8 0.291 SQHIGH 16 31 47 0 20 20 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11113 12 120128209 120128209 29 ALL relapse snv SIRT4 silent S69S NM_012240 10-PASKHT SIRT4 SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 24 50 74 0 76 76 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23409 12 120741571 120741571 83 ALL relapse snv ZCCHC8 missense E602G NM_017612 10-PASKHT ZCCHC8 MISSENSE SNP Somatic -7 0.055 SQHIGH 8 45 53 0 44 44 T T C T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55596 12 122958363 122958363 22 ALL relapse snv PITPNM2 silent T850T NM_020845 10-PASKHT PITPNM2 SYNONYMOUS SNP Somatic PFAM:PF02862:DDHD 5 0.200 SQHIGH 19 38 57 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57605 12 123475111 123475111 58 ALL relapse snv DNAH10 silent T114T NM_207437 10-PASKHT DNAH10 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 22 42 64 0 57 57 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 196385 12 124258715 124258715 70 ALL relapse snv NCOR2 silent P1456P NM_006312 10-PASKHT NCOR2 SYNONYMOUS SNP dbsnp.132:rs75700832 Somatic 4 0.169 SQHIGH 23 40 63 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9612 12 124829489 124829489 62 ALL relapse snv NCOR2 missense R139H NM_006312 10-PASKHT NCOR2 MISSENSE SNP Somatic 5 0.200 SQHIGH 21 46 67 1 58 59 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9612 12 124957673 124957673 54 ALL relapse snv TMEM132B silent G1037G NM_052907 10-PASKHT TMEM132B SYNONYMOUS SNP Somatic -1 0.095 SQHIGH 17 32 49 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 114795 12 126139130 126139130 54 ALL relapse snv ZNF891 silent T301T NM_001277291 10-PASKHT ZNF891 UTR SNP Somatic 0 0.107 SQHIGH 11 50 61 0 53 53 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 440122 12 133697602 133697602 32 ALL relapse snv IFT88 missense T68M NM_175605 10-PASKHT IFT88 MISSENSE SNP Somatic -9 0.047 SQHIGH 7 10 17 0 8 8 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8100 13 21163972 21163972 14 ALL relapse snv SPATA13 missense R284W NM_001166271 10-PASKHT SPATA13 INTRON,MISSENSE SNP Somatic 5 0.200 SQHIGH 20 31 51 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 221178 13 24797917 24797917 67 ALL relapse snv MTUS2 missense V570M NM_001033602 10-PASKHT MTUS2 MISSENSE SNP Somatic 15 0.748 SQHIGH 35 41 76 0 59 59 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23281 13 29600513 29600513 107 ALL relapse snv MTUS2 silent N1294N NM_001033602 10-PASKHT MTUS2 SYNONYMOUS SNP Somatic -1 0.095 SQHIGH 10 25 35 0 27 27 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23281 13 30075287 30075287 28 ALL relapse snv ALOX5AP missense A74V NM_001629 10-PASKHT ALOX5AP MISSENSE SNP dbsnp.134:rs148308449 Somatic PFAM:PF01124:MAPEG 2 0.134 SQHIGH 11 53 64 0 39 39 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 241 13 31326239 31326239 24 ALL relapse snv MAB21L1 missense R51W NM_005584 10-PASKHT MAB21L1|NBEA MISSENSE|INTRON,TSS-UPSTREAM SNP Somatic 6 0.229 SQHIGH 26 50 76 1 60 61 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4081|26960 13 36050125 36050125 65 ALL relapse snv FREM2 silent R150R NM_207361 10-PASKHT FREM2 SYNONYMOUS SNP Somatic 9 0.329 SQHIGH 9 14 23 0 15 15 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 341640 13 39261931 39261931 23 ALL relapse snv FREM2 nonsense R798* NM_207361 10-PASKHT FREM2 NONSENSE SNP Somatic 3 0.149 SQHIGH 24 45 69 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 341640 13 39263873 39263873 64 ALL relapse snv ENOX1 missense A355T NM_017993 10-PASKHT ENOX1 MISSENSE SNP Somatic 9 0.329 SQHIGH 20 27 47 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55068 13 43900635 43900635 71 ALL relapse snv ZC3H13 missense R1256H NM_015070 10-PASKHT ZC3H13 MISSENSE SNP Somatic -5 0.064 SQHIGH 24 39 63 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23091 13 46542912 46542912 67 ALL relapse snv LRCH1 missense V140I NM_001164211 10-PASKHT LRCH1 MISSENSE SNP dbsnp.134:rs147924167 Somatic 6 0.229 SQHIGH 15 14 29 0 30 30 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23143 13 47224446 47224446 57 ALL relapse snv FAM124A silent S73S NM_145019 10-PASKHT FAM124A SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 17 39 56 0 56 56 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 220108 13 51825614 51825614 57 ALL relapse snv ATP7B splice_region E1081_E14splice_region NM_000053 10-PASKHT ATP7B DONOR SNP Somatic 7 0.259 SQHIGH 23 27 50 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 540 13 52518241 52518241 85 ALL relapse snv PCDH8 missense T991M NM_002590 10-PASKHT PCDH8 MISSENSE SNP Somatic 11 0.425 SQHIGH 23 32 55 1 59 60 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5100 13 53418936 53418936 75 ALL relapse snv PCDH8 missense A622V NM_002590 10-PASKHT PCDH8 MISSENSE SNP Somatic -3 0.077 SQHIGH 11 12 23 0 15 15 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5100 13 53420707 53420707 29 ALL relapse snv DIAPH3 missense R172P NM_001042517 10-PASKHT DIAPH3 MISSENSE SNP Somatic PFAM:PF06371:Drf_GBD 19 0.985 SQHIGH 17 12 29 0 36 36 Cosmic_Gene C C G C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 81624 13 60616935 60616935 76 ALL relapse snv DACH1 silent T659T NM_080759 10-PASKHT DACH1 SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 13 17 30 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1602 13 72049881 72049881 46 ALL relapse snv EDNRB missense G135S NM_000115 10-PASKHT EDNRB MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx -5 0.064 SQHIGH 9 47 56 0 50 50 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1910 13 78492306 78492306 26 ALL relapse snv SLITRK1 missense V635M NM_052910 10-PASKHT SLITRK1 MISSENSE SNP Somatic 6 0.229 SQHIGH 20 27 47 0 34 34 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 114798 13 84453740 84453740 57 ALL relapse snv SLITRK1 silent F491F NM_052910 10-PASKHT SLITRK1 SYNONYMOUS SNP Somatic 9 0.329 SQHIGH 16 27 43 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 114798 13 84454170 84454170 60 ALL relapse snv IRS2 silent S1061S NM_003749 10-PASKHT IRS2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 11 19 30 0 19 19 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8660 13 110435218 110435218 27 ALL relapse snv OR4N2 silent D191D NM_001004723 10-PASKHT OR4N2 SYNONYMOUS SNP dbsnp.134:rs148127407 Somatic PFAM:PF00001:7tm_1 2 0.134 SQHIGH 19 72 91 0 73 73 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 390429 14 20296180 20296180 53 ALL relapse snv OR11G2 missense R166Q NM_001005503 10-PASKHT OR11G2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 4 0.169 SQHIGH 26 45 71 0 63 63 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 390439 14 20665991 20665991 83 ALL relapse snv RNASE2 missense R62Q NM_002934 10-PASKHT RNASE2 MISSENSE SNP Somatic 4 0.169 SQHIGH 34 72 106 0 74 74 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6036 14 21424115 21424115 90 ALL relapse snv SLC7A8 silent A301A NM_012244 10-PASKHT SLC7A8 SYNONYMOUS SNP dbsnp.134:rs151119050 Somatic PFAM:PF01490:Aa_trans 7 0.259 SQHIGH 19 52 71 0 65 65 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23428 14 23608642 23608642 59 ALL relapse snv SLC22A17 silent A455A NM_020372 10-PASKHT SLC22A17 SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 10 17 27 0 23 23 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51310 14 23816109 23816109 31 ALL relapse snv MYH6 missense R1502W NM_002471 10-PASKHT MYH6 MISSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 11 0.425 SQHIGH 29 38 67 0 59 59 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4624 14 23856988 23856988 95 ALL relapse snv ADCY4 missense A487T NM_139247 10-PASKHT ADCY4 MISSENSE SNP Somatic PFAM:PF06327:DUF1053 -4 0.070 SQHIGH 28 25 53 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 196883 14 24798332 24798332 67 ALL relapse snv HEATR5A missense A1327V NM_015473 10-PASKHT HEATR5A MISSENSE SNP Somatic 12 0.482 SQHIGH 14 20 34 0 25 25 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 25938 14 31787488 31787488 40 ALL relapse snv NPAS3 missense G275S NM_001164749 10-PASKHT NPAS3 MISSENSE SNP Somatic 6 0.229 SQHIGH 19 39 58 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64067 14 34204509 34204509 63 ALL relapse snv NPAS3 missense D495N NM_001164749 10-PASKHT NPAS3 MISSENSE SNP Somatic 12 0.482 SQHIGH 19 26 45 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64067 14 34268996 34268996 64 ALL relapse snv NPAS3 missense M511I NM_001164749 10-PASKHT NPAS3 MISSENSE SNP Somatic 1 0.118 SQHIGH 22 39 61 1 42 43 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64067 14 34269046 34269046 48 ALL relapse snv NPAS3 silent R604R NM_001164749 10-PASKHT NPAS3 SYNONYMOUS SNP Somatic -1 0.095 SQHIGH 11 36 47 0 31 31 Cosmic_Gene G G C G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64067 14 34269325 34269325 26 ALL relapse snv SSTR1 missense R167H NM_001049 10-PASKHT SSTR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 8 0.291 SQHIGH 20 10 30 0 29 29 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6751 14 38679094 38679094 80 ALL relapse snv PNN silent P102P NM_002687 10-PASKHT PNN SYNONYMOUS SNP Somatic PFAM:PF04697:Pinin_SDK_N -9 0.047 SQHIGH 8 69 77 0 63 63 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5411 14 39646667 39646667 22 ALL relapse snv C14orf28 missense R159Q NM_001017923 10-PASKHT C14orf28 MISSENSE SNP Somatic 17 0.911 SQHIGH 12 18 30 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 122525 14 45370114 45370114 53 ALL relapse snv WDHD1 missense R1053Q NM_007086 10-PASKHT WDHD1 MISSENSE SNP Somatic 12 0.482 SQHIGH 17 11 28 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11169 14 55411081 55411081 90 ALL relapse snv DLGAP5 missense R575H NM_014750 10-PASKHT DLGAP5 MISSENSE SNP Somatic PFAM:PF03359:GKAP 12 0.482 SQHIGH 9 14 23 0 24 24 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9787 14 55625389 55625389 32 ALL relapse snv C14orf37 missense V529I NM_001001872 10-PASKHT C14orf37 MISSENSE SNP Somatic 5 0.200 SQHIGH 19 33 52 0 48 48 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 145407 14 58599844 58599844 62 ALL relapse snv DACT1 silent N596N NM_016651 10-PASKHT DACT1 SYNONYMOUS SNP Somatic -2 0.086 SQHIGH 7 13 20 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51339 14 59113129 59113129 25 ALL relapse snv PPM1A missense G45S NM_021003 10-PASKHT PPM1A MISSENSE SNP Somatic PFAM:PF00481:PP2C 14 0.630 SQHIGH 26 28 54 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5494 14 60749554 60749554 88 ALL relapse snv SIX6 missense A46T NM_007374 10-PASKHT SIX6 MISSENSE SNP Somatic 11 0.425 SQHIGH 18 23 41 0 31 31 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4990 14 60976252 60976252 53 ALL relapse snv TRMT5 missense P130L NM_020810 10-PASKHT SLC38A6|TRMT5 TSS-UPSTREAM|MISSENSE SNP Somatic 5 0.200 SQHIGH 16 37 53 0 65 65 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 145389|57570 14 61446227 61446227 62 ALL relapse snv SYT16 missense R603H NM_031914 10-PASKHT SYT16 MISSENSE SNP Somatic 11 0.425 SQHIGH 39 50 89 0 49 49 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83851 14 62567295 62567295 91 ALL relapse snv ESR2 silent C133C NM_001437 10-PASKHT ESR2 SYNONYMOUS SNP dbsnp.134:rs140630557 Somatic 15 0.748 SQHIGH 31 19 50 1 59 60 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2100 14 64746835 64746835 125 ALL relapse snv PLEK2 silent T100T NM_016445 10-PASKHT PLEK2 SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 30 74 104 0 69 69 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26499 14 67862208 67862208 75 ALL relapse snv TMEM229B silent T91T NM_182526 10-PASKHT TMEM229B SYNONYMOUS SNP Somatic PFAM:PF06541:DUF1113 14 0.630 SQHIGH 13 26 39 1 36 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 161145 14 67940368 67940368 33 ALL relapse snv PLEKHH1 missense R1025W NM_020715 10-PASKHT PLEKHH1 MISSENSE SNP Somatic 6 0.229 SQHIGH 21 39 60 1 39 40 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57475 14 68046483 68046483 43 ALL relapse snv SMOC1 missense R286C NM_001034852 10-PASKHT SMOC1 MISSENSE SNP Somatic 10 0.372 SQHIGH 13 34 47 0 36 36 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64093 14 70477662 70477662 36 ALL relapse snv SLC8A3 missense R360H NM_033262 10-PASKHT SLC8A3 MISSENSE SNP Somatic 11 0.425 SQHIGH 35 25 61 0 75 75 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6547 14 70634061 70634061 157 ALL relapse snv RPS6KL1 silent S209S NM_031464 10-PASKHT RPS6KL1 SYNONYMOUS SNP Somatic PFAM:PF03109:ABC1 8 0.291 SQHIGH 30 32 62 0 29 29 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83694 14 75377988 75377988 63 ALL relapse snv ESRRB splice_region G133_E4splice_region NM_004452 10-PASKHT ESRRB DONOR SNP Somatic 3 0.149 SQHIGH 28 43 71 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2103 14 76906097 76906097 62 ALL relapse snv VASH1 missense V270M NM_014909 10-PASKHT VASH1|LOC100506624 MISSENSE|INTRON SNP Somatic -7 0.055 SQHIGH 8 32 40 0 22 22 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 22846|100506624 14 77242512 77242512 16 ALL relapse snv SEL1L missense A242V NM_005065 10-PASKHT SEL1L MISSENSE SNP Somatic 7 0.259 SQHIGH 24 44 68 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6400 14 81969117 81969117 71 ALL relapse snv GALC missense E242K NM_000153 10-PASKHT GALC MISSENSE SNP Somatic PFAM:PF02057:Glyco_hydro_59 7 0.259 SQHIGH 19 29 48 0 44 44 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2581 14 88442730 88442730 63 ALL relapse snv NRDE2 silent P135P NM_017970 10-PASKHT C14orf102 SYNONYMOUS,INTRON SNP Somatic 11 0.425 SQHIGH 17 21 38 0 34 34 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55051 14 90782924 90782924 57 ALL relapse snv PPP4R4 silent T740T NM_058237 10-PASKHT PPP4R4 SYNONYMOUS SNP Somatic -8 0.051 SQHIGH 7 43 50 1 50 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57718 14 94731746 94731746 16 ALL relapse snv SERPINA5 missense T264M NM_000624 10-PASKHT SERPINA5 MISSENSE SNP Somatic 15 0.748 SQHIGH 36 36 72 0 64 64 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5104 14 95056549 95056549 124 ALL relapse snv EML1 silent S507S NM_001008707 10-PASKHT EML1 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 11 0.425 SQHIGH 11 26 37 0 49 49 COSMIC:mut:50965 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2009 14 100377883 100377883 45 ALL relapse snv SLC25A29 missense R277C NM_001039355 10-PASKHT SLC25A29 MISSENSE SNP Somatic -10 0.043 SQHIGH 17 16 33 0 17 17 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 123096 14 100758703 100758703 39 ALL relapse snv WARS silent G345G NM_004184 10-PASKHT WARS SYNONYMOUS SNP Somatic 1 0.118 SQHIGH 15 30 45 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7453 14 100808813 100808813 45 ALL relapse snv WDR25 missense A315T NM_024515 10-PASKHT WDR25 MISSENSE SNP Somatic 11 0.425 SQHIGH 27 27 54 0 52 52 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79446 14 100934478 100934478 98 ALL relapse snv KIF26A silent S1631S NM_015656 10-PASKHT KIF26A SYNONYMOUS SNP Somatic 10 0.372 SQHIGH 15 13 28 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26153 14 104644018 104644018 52 ALL relapse snv JAG2 missense G530R NM_002226 10-PASKHT JAG2 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 8 0.291 SQHIGH 19 26 45 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3714 14 105616955 105616955 68 ALL relapse snv JAG2 missense G254R NM_002226 10-PASKHT JAG2 MISSENSE SNP Somatic 14 0.630 SQHIGH 26 29 55 0 40 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3714 14 105621927 105621927 76 ALL relapse snv NDN silent A102A NM_002487 10-PASKHT NDN SYNONYMOUS SNP Somatic 14 0.630 SQHIGH 12 19 31 1 21 22 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4692 15 23932059 23932059 24 ALL relapse snv OCA2 silent G824G NM_000275 10-PASKHT OCA2 SYNONYMOUS SNP Somatic PFAM:PF00939:Na_sulph_symp -4 0.070 SQHIGH 10 63 73 0 68 68 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4948 15 28000579 28000579 30 ALL relapse snv OCA2 silent H552H NM_000275 10-PASKHT OCA2 SYNONYMOUS SNP Somatic 8 0.291 SQHIGH 16 30 46 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4948 15 28202862 28202862 54 ALL relapse snv HERC2 silent Y3128Y NM_004667 10-PASKHT HERC2 SYNONYMOUS SNP Somatic PFAM:PF00415:RCC1 2 0.134 SQHIGH 22 32 54 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8924 15 28422144 28422144 64 ALL relapse snv HERC2 silent S1808S NM_004667 10-PASKHT HERC2 SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 13 25 38 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8924 15 28473404 28473404 45 ALL relapse snv FAM189A1 missense T350M NM_015307 10-PASKHT FAM189A1 MISSENSE SNP Somatic 3 0.149 SQHIGH 28 26 54 0 51 51 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23359 15 29418649 29418649 101 ALL relapse snv TRPM1 missense R742W NM_002420 10-PASKHT TRPM1 MISSENSE SNP Somatic 9 0.329 SQHIGH 33 34 67 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4308 15 31332347 31332347 94 ALL relapse snv TRPM1 missense V247M NM_002420 10-PASKHT TRPM1 MISSENSE SNP Somatic 5 0.200 SQHIGH 19 31 50 0 36 36 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4308 15 31355481 31355481 53 ALL relapse snv RYR3 silent S2347S NM_001036 10-PASKHT RYR3 SYNONYMOUS SNP Somatic 1 0.118 SQHIGH 11 55 66 0 58 58 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6263 15 34021065 34021065 32 ALL relapse snv PGBD4 missense R445H NM_152595 10-PASKHT PGBD4|C15orf24 MISSENSE|TSS-UPSTREAM SNP Somatic 4 0.169 SQHIGH 42 57 99 0 80 80 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 161779|56851 15 34396066 34396066 130 ALL relapse snv ZFYVE19 missense R337Q NM_001077268 10-PASKHT ZFYVE19 MISSENSE SNP Somatic 1 0.118 SQHIGH 11 41 52 0 43 43 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84936 15 41105080 41105080 31 ALL relapse snv SPTBN5 missense R423Q NM_016642 10-PASKHT SPTBN5 MISSENSE SNP Somatic 0 0.107 SQHIGH 16 17 33 0 27 27 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51332 15 42178185 42178185 51 ALL relapse snv ADAL missense R227Q NM_001159280 10-PASKHT ADAL MISSENSE SNP dbsnp.134:rs118163361 Somatic 5 0.200 SQHIGH 21 39 60 0 52 52 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 161823 15 43641232 43641232 66 ALL relapse snv SLC28A2 missense R60Q NM_004212 10-PASKHT SLC28A2 MISSENSE SNP dbsnp.132:rs115889945 Somatic -1 0.095 SQHIGH 9 37 46 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9153 15 45554221 45554221 28 ALL relapse snv FBN1 missense G2669S NM_000138 10-PASKHT FBN1 MISSENSE SNP Somatic 13 0.549 SQHIGH 22 26 48 0 50 50 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2200 15 48707779 48707779 82 ALL relapse snv FBN1 silent C2535C NM_000138 10-PASKHT FBN1 SYNONYMOUS SNP Somatic PFAM:PF07645:EGF_CA -1 0.095 SQHIGH 10 52 62 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2200 15 48713849 48713849 28 ALL relapse snv USP8 missense R275Q NM_001128610 10-PASKHT USP8 MISSENSE SNP Somatic PFAM:PF00581:Rhodanese 1 0.118 SQHIGH 11 40 51 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9101 15 50763967 50763967 29 ALL relapse snv AP4E1 silent A565A NM_007347 10-PASKHT AP4E1 SYNONYMOUS SNP Somatic PFAM:PF01602:Adaptin_N -4 0.070 SQHIGH 5 17 22 0 40 40 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23431 15 51250835 51250835 24 ALL relapse snv FAM214A missense R73Q NM_019600 10-PASKHT FAM214A MISSENSE SNP Somatic 11 0.425 SQHIGH 15 25 40 0 37 37 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56204 15 52903958 52903958 49 ALL relapse snv NEDD4 nonsense R96* NM_006154 10-PASKHT NEDD4 NONSENSE SNP Somatic 4 0.169 SQHIGH 23 49 72 0 74 74 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4734 15 56216849 56216849 80 ALL relapse snv CGNL1 missense R420Q NM_032866 10-PASKHT CGNL1 MISSENSE SNP Somatic 8 0.291 SQHIGH 33 44 77 1 58 59 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84952 15 57731456 57731456 85 ALL relapse snv CCNB2 missense R166H NM_004701 10-PASKHT CCNB2 MISSENSE SNP Somatic 15 0.748 SQHIGH 26 29 55 0 43 43 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9133 15 59406975 59406975 80 ALL relapse snv FOXB1 silent P199P NM_012182 10-PASKHT FOXB1 SYNONYMOUS SNP Somatic 12 0.482 SQHIGH 27 31 58 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 27023 15 60297759 60297759 93 ALL relapse snv LOC100996876 EXON E1_exon NM_134261 10-PASKHT RORA INTRON SNP Somatic 1 0.118 SQHIGH 9 28 37 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6095 15 60974087 60974087 27 ALL relapse snv LOC100996876 EXON E1_exon NM_134261 10-PASKHT RORA INTRON SNP Somatic 17 0.911 SQHIGH 31 38 69 0 67 67 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6095 15 60978929 60978929 110 ALL relapse snv TLN2 silent S607S NM_015059 10-PASKHT TLN2 SYNONYMOUS SNP Somatic PFAM:PF09141:Talin_middle 4 0.169 SQHIGH 37 34 71 1 47 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83660 15 62994315 62994315 93 ALL relapse snv HERC1 missense R3008H NM_003922 10-PASKHT HERC1 MISSENSE SNP Somatic 4 0.169 SQHIGH 22 32 54 1 38 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8925 15 63954099 63954099 51 ALL relapse snv ANKDD1A silent A162A NM_182703 10-PASKHT ANKDD1A SYNONYMOUS SNP Somatic 15 0.748 SQHIGH 30 28 58 0 61 61 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 348094 15 65219114 65219114 116 ALL relapse snv SKOR1 silent S412S NM_001258024 10-PASKHT SKOR1 SYNONYMOUS SNP Somatic PFAM:PF08782:c-SKI_SMAD_bind -10 0.043 SQHIGH 9 44 53 0 49 49 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 390598 15 68118844 68118844 27 ALL relapse snv THSD4 silent F100F NM_024817 10-PASKHT THSD4 SYNONYMOUS SNP Somatic -2 0.086 SQHIGH 16 18 34 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79875 15 71507574 71507574 51 ALL relapse snv THSD4 missense V984M NM_024817 10-PASKHT THSD4 MISSENSE SNP Somatic PFAM:PF08686:PLAC 13 0.549 SQHIGH 35 31 66 0 57 57 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79875 15 72069606 72069606 120 ALL relapse snv NEO1 missense G468R NM_002499 10-PASKHT NEO1 MISSENSE SNP Somatic 6 0.229 SQHIGH 21 33 54 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4756 15 73528798 73528798 75 ALL relapse snv UBL7 missense G364S NM_032907 10-PASKHT UBL7 MISSENSE SNP Somatic PFAM:PF00627:UBA 14 0.630 SQHIGH 21 26 47 0 24 24 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84993 15 74738484 74738484 46 ALL relapse snv UBL7 silent S34S NM_032907 10-PASKHT UBL7|LOC440288 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 8 0.291 SQHIGH 39 51 90 0 77 77 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84993|440288 15 74751107 74751107 126 ALL relapse snv CSPG4 missense R1893C NM_001897 10-PASKHT CSPG4 MISSENSE SNP Somatic -1 0.095 SQHIGH 14 30 44 1 45 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1464 15 75969183 75969183 39 ALL relapse snv TSPAN3 missense R117H NM_005724 10-PASKHT TSPAN3 MISSENSE SNP Somatic PFAM:PF00335:Tetraspannin -5 0.064 SQHIGH 9 50 59 1 48 49 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10099 15 77346602 77346602 18 ALL relapse snv ADAMTS7 missense V558I NM_014272 10-PASKHT ADAMTS7 MISSENSE SNP Somatic 10 0.372 SQHIGH 16 29 45 1 33 34 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11173 15 79068564 79068564 35 ALL relapse snv CEMIP silent H792H NM_018689 10-PASKHT CEMIP SYNONYMOUS SNP Somatic 8 0.291 SQHIGH 23 32 55 0 63 63 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57214 15 81218052 81218052 90 ALL relapse snv AP3B2 missense A77T NM_004644 10-PASKHT AP3B2 MISSENSE SNP Somatic PFAM:PF01602:Adaptin_N 2 0.134 SQHIGH 14 38 52 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8120 15 83357945 83357945 44 ALL relapse snv FSD2 missense T585M NM_001007122 10-PASKHT FSD2 MISSENSE SNP Somatic 8 0.291 SQHIGH 29 35 64 0 42 42 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 123722 15 83433984 83433984 78 ALL relapse snv C15orf40 missense V147I NM_001160113 10-PASKHT C15orf40 INTRON,MISSENSE,UTR SNP Somatic 18 0.949 SQHIGH 21 15 36 1 29 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 123207 15 83677227 83677227 60 ALL relapse snv ZSCAN2 silent P144P NM_017894 10-PASKHT ZSCAN2 SYNONYMOUS,INTRON SNP Somatic 11 0.425 SQHIGH 38 38 76 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 54993 15 85149785 85149785 107 ALL relapse snv PDE8A missense V172I NM_002605 10-PASKHT PDE8A MISSENSE SNP dbsnp.134:rs139127577 Somatic PFAM:PF00072:Response_reg 2 0.134 SQHIGH 7 7 14 0 19 19 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5151 15 85619986 85619986 31 ALL relapse snv DET1 missense R316H NM_017996 10-PASKHT DET1 MISSENSE,UTR SNP dbsnp.134:rs150148944 Somatic PFAM:PF09737:Det1 4 0.169 SQHIGH 17 39 56 0 49 49 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55070 15 89074023 89074023 52 ALL relapse snv DET1 missense R288Q NM_017996 10-PASKHT DET1 MISSENSE,UTR SNP Somatic PFAM:PF09737:Det1 3 0.149 SQHIGH 14 39 53 1 52 53 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55070 15 89074107 89074107 37 ALL relapse snv ABHD2 splice_region D124_E9splice_region NM_007011 10-PASKHT ABHD2 ACCEPTOR SNP Somatic 5 0.200 SQHIGH 23 20 43 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11057 15 89698590 89698590 79 ALL relapse snv CRTC3 nonsense R108* NM_022769 10-PASKHT CRTC3 NONSENSE SNP Somatic 8 0.291 SQHIGH 13 20 33 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64784 15 91136958 91136958 43 ALL relapse snv NR2F2 missense A257V NM_021005 10-PASKHT NR2F2 MISSENSE SNP Somatic 8 0.291 SQHIGH 27 32 59 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7026 15 96877632 96877632 85 ALL relapse snv MEF2A missense A337T NM_005587 10-PASKHT MEF2A MISSENSE SNP Somatic 6 0.229 SQHIGH 23 33 56 2 65 67 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4205 15 100250856 100250856 71 ALL relapse snv LYSMD4 missense R6Q NM_152449 10-PASKHT LYSMD4 MISSENSE SNP Somatic 4 0.169 SQHIGH 8 25 33 1 36 37 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 145748 15 100272100 100272100 21 ALL relapse snv CERS3 missense R111C NM_178842 10-PASKHT CERS3 MISSENSE SNP Somatic 4 0.169 SQHIGH 27 43 70 1 69 70 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 204219 15 101024831 101024831 82 ALL relapse snv OR4F6 silent L39L NM_001005326 10-PASKHT OR4F6 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 25 46 71 1 67 68 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 390648 15 102346039 102346039 72 ALL relapse snv RHBDF1 missense R382H NM_022450 10-PASKHT RHBDF1 MISSENSE SNP Somatic -5 0.064 SQHIGH 11 34 45 0 42 42 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64285 16 111859 111859 34 ALL relapse snv C1QTNF8 missense R155H NM_207419 10-PASKHT C1QTNF8 MISSENSE SNP Somatic PFAM:PF00386:C1q 16 0.814 SQHIGH 23 24 47 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 390664 16 1143796 1143796 72 ALL relapse snv C1QTNF8 missense R124H NM_207419 10-PASKHT C1QTNF8 MISSENSE SNP Somatic PFAM:PF00386:C1q 6 0.229 SQHIGH 13 24 37 1 28 29 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 390664 16 1143889 1143889 28 ALL relapse snv CLCN7 silent P716P NM_001287 10-PASKHT CCDC154|CLCN7 TSS-UPSTREAM|SYNONYMOUS SNP dbsnp.134:rs149081153 Somatic 17 0.911 SQHIGH 14 15 29 0 22 22 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 645811|1186 16 1497495 1497495 42 ALL relapse snv PKD1 missense E2610K NM_001009944 10-PASKHT PKD1 MISSENSE SNP Somatic 8 0.291 SQHIGH 14 23 37 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5310 16 2155901 2155901 45 ALL relapse snv MEFV missense A193V NM_000243 10-PASKHT MEFV INTRON,MISSENSE SNP Somatic 4 0.169 SQHIGH 12 20 32 0 28 28 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4210 16 3304490 3304490 38 ALL relapse snv ZNF174 missense R31Q NM_003450 10-PASKHT ZNF434|ZNF174 TSS-UPSTREAM|MISSENSE SNP Somatic 3 0.149 SQHIGH 26 59 85 1 43 44 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 54925|7727 16 3452096 3452096 43 ALL relapse snv SLX4 missense R1779Q NM_032444 10-PASKHT SLX4 MISSENSE SNP Somatic 2 0.134 SQHIGH 10 11 21 0 19 19 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84464 16 3632512 3632512 34 ALL relapse snv CREBBP missense G2229S NM_004380 10-PASKHT CREBBP MISSENSE SNP dbsnp.134:rs139688311 Somatic 14 0.630 SQHIGH 11 21 32 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1387 16 3778363 3778363 32 ALL relapse snv CREBBP missense R1602H NM_004380 10-PASKHT CREBBP MISSENSE SNP Somatic PFAM:PF08214:KAT11 1 0.118 SQHIGH 36 58 94 0 62 62 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1387 16 3781862 3781862 94 ALL relapse snv CREBBP splice T1260_E20splice NM_004380 10-PASKHT CREBBP DISRUPT SNP Somatic -1 0.095 SQHIGH 10 44 54 1 42 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1387 16 3801726 3801726 19 ALL relapse snv C16orf96 missense R630W NM_001145011 10-PASKHT C16orf96 MISSENSE SNP Somatic 4 0.169 SQHIGH 29 50 79 0 52 52 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 342346 16 4626369 4626369 75 ALL relapse snv SEC14L5 missense R364Q NM_014692 10-PASKHT SEC14L5 MISSENSE SNP Somatic 6 0.229 SQHIGH 16 61 77 1 59 60 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9717 16 5050887 5050887 34 ALL relapse snv XYLT1 missense G452S NM_022166 10-PASKHT XYLT1 MISSENSE SNP Somatic PFAM:PF02485:Branch 6 0.229 SQHIGH 30 44 74 0 81 81 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64131 16 17252702 17252702 113 ALL relapse snv SMG1 missense R1956H NM_015092 10-PASKHT SMG1 MISSENSE SNP Somatic 0 0.107 SQHIGH 20 17 37 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23049 16 18858904 18858904 70 ALL relapse snv TMC7 missense T461R NM_024847 10-PASKHT TMC7 MISSENSE SNP Somatic 5 0.200 SQHIGH 20 40 60 1 52 53 Cosmic_Gene C C G C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79905 16 19056250 19056250 52 ALL relapse snv UMOD silent T469T NM_003361 10-PASKHT UMOD SYNONYMOUS SNP Somatic PFAM:PF00100:Zona_pellucida 14 0.630 SQHIGH 30 27 57 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7369 16 20352583 20352583 101 ALL relapse snv DNAH3 missense V2622M NM_017539 10-PASKHT DNAH3 MISSENSE SNP Somatic PFAM:PF00485:PRK 15 0.748 SQHIGH 36 31 67 0 55 55 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55567 16 20990864 20990864 120 ALL relapse snv DNAH3 missense G1338R NM_017539 10-PASKHT DNAH3 MISSENSE SNP Somatic 4 0.169 SQHIGH 29 42 71 0 59 59 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55567 16 21065768 21065768 91 ALL relapse snv HS3ST2 missense T174M NM_006043 10-PASKHT HS3ST2 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 8 0.291 SQHIGH 23 33 56 0 50 50 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9956 16 22926300 22926300 76 ALL relapse snv ERN2 missense V573M NM_033266 10-PASKHT ERN2 MISSENSE SNP dbsnp.134:rs148827246 Somatic 13 0.549 SQHIGH 29 34 63 0 50 50 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10595 16 23707252 23707252 90 ALL relapse snv RBBP6 missense R1460H NM_006910 10-PASKHT RBBP6 MISSENSE SNP dbsnp.134:rs143040546 Somatic 4 0.169 SQHIGH 23 47 70 0 64 64 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5930 16 24582766 24582766 74 ALL relapse snv TNRC6A missense G1256R NM_014494 10-PASKHT TNRC6A MISSENSE SNP Somatic 15 0.748 SQHIGH 14 12 26 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 27327 16 24815569 24815569 60 ALL relapse snv ARHGAP17 missense A691T NM_001006634 10-PASKHT ARHGAP17 MISSENSE SNP Somatic 15 0.748 SQHIGH 20 21 41 0 36 36 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55114 16 24942549 24942549 67 ALL relapse snv HS3ST4 missense A337V NM_006040 10-PASKHT HS3ST4 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 14 0.630 SQHIGH 28 36 64 0 57 57 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9951 16 26147208 26147208 93 ALL relapse snv KDM8 missense A180T NM_001145348 10-PASKHT KDM8 MISSENSE SNP Somatic 16 0.814 SQHIGH 26 34 60 0 58 58 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79831 16 27221868 27221868 91 ALL relapse snv KIAA0556 missense R1029H NM_015202 10-PASKHT KIAA0556 MISSENSE SNP Somatic 5 0.200 SQHIGH 20 41 61 0 62 62 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23247 16 27761367 27761367 69 ALL relapse snv CCDC101 silent A178A NM_138414 10-PASKHT CCDC101 SYNONYMOUS SNP Somatic PFAM:PF07039:DUF1325 15 0.748 SQHIGH 43 28 71 0 52 52 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 112869 16 28601731 28601731 138 ALL relapse snv TRIM72 silent H458H NM_001008274 10-PASKHT TRIM72 SYNONYMOUS SNP Somatic -1 0.095 SQHIGH 11 14 25 0 22 22 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 493829 16 31236016 31236016 36 ALL relapse snv NETO2 missense R273Q NM_018092 10-PASKHT NETO2 MISSENSE SNP Somatic -3 0.077 SQHIGH 9 7 16 0 13 13 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 81831 16 47143459 47143459 29 ALL relapse snv ABCC12 missense T190M NM_033226 10-PASKHT ABCC12 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane 8 0.291 SQHIGH 14 29 43 1 49 50 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 94160 16 48174686 48174686 43 ALL relapse snv C16orf78 missense R82C NM_144602 10-PASKHT C16orf78 MISSENSE SNP Somatic 13 0.549 SQHIGH 31 31 62 0 56 56 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 123970 16 49411735 49411735 108 ALL relapse snv FTO silent A311A NM_001080432 10-PASKHT FTO SYNONYMOUS SNP Somatic PFAM:PF12933:FTO_NTD 18 0.949 SQHIGH 11 14 25 0 28 28 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79068 16 53907735 53907735 42 ALL relapse snv MMP2 missense A607T NM_004530 10-PASKHT MMP2 MISSENSE SNP Somatic 6 0.229 SQHIGH 32 41 73 0 62 62 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4313 16 55536740 55536740 103 ALL relapse snv CX3CL1 silent T272T NM_002996 10-PASKHT CX3CL1 SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 27 44 71 1 61 62 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6376 16 57416566 57416566 74 ALL relapse snv LOC729159 missense R109H NM_001282301 10-PASKHT LOC729159 MISSENSE SNP Somatic -5 0.064 SQHIGH 26 32 58 0 52 52 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 729159 16 60393281 60393281 87 ALL relapse snv MARVELD3 missense A126T NM_001017967 10-PASKHT MARVELD3 MISSENSE SNP Somatic 13 0.549 SQHIGH 26 21 47 1 38 39 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 91862 16 71660508 71660508 75 ALL relapse snv DHX38 splice_region R1200_E26splice_region NM_014003 10-PASKHT DHX38 INTRON SNP Somatic 11 0.425 SQHIGH 32 31 63 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9785 16 72144986 72144986 82 ALL relapse snv ZFHX3 missense V1091I NM_006885 10-PASKHT ZFHX3 MISSENSE SNP Somatic 6 0.229 SQHIGH 38 40 78 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 463 16 72923807 72923807 88 ALL relapse snv CNTNAP4 silent T726T NM_138994 10-PASKHT CNTNAP4 SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 13 14 27 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 85445 16 76555068 76555068 52 ALL relapse snv CNTNAP4 missense V1103M NM_138994 10-PASKHT CNTNAP4 MISSENSE SNP Somatic 14 0.630 SQHIGH 11 16 27 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 85445 16 76587263 76587263 46 ALL relapse snv MTHFSD missense R74H NM_001159378 10-PASKHT FLJ30679|MTHFSD TSS-UPSTREAM|INTRON,MISSENSE,UTR SNP Somatic PFAM:PF01812:5-FTHF_cyc-lig 15 0.748 SQHIGH 31 37 68 1 51 52 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 146512|64779 16 86585801 86585801 81 ALL relapse snv CBFA2T3 silent P606P NM_005187 10-PASKHT CBFA2T3 SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 20 25 45 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 863 16 88943528 88943528 49 ALL relapse snv TRPV3 missense A245T NM_145068 10-PASKHT TRPV3 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 -4 0.070 SQHIGH 7 24 31 0 23 23 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 162514 17 3438918 3438918 18 ALL relapse snv SPNS2 silent T434T NM_001124758 10-PASKHT SPNS2 SYNONYMOUS SNP Somatic PFAM:PF07690:MFS_1 -7 0.055 SQHIGH 5 25 30 0 33 33 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 124976 17 4437106 4437106 17 ALL relapse snv MYBBP1A missense A311T NM_001105538 10-PASKHT MYBBP1A MISSENSE SNP Somatic PFAM:PF04931:DNA_pol_phi -5 0.064 SQHIGH 4 3 7 0 18 18 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10514 17 4455267 4455267 26 ALL relapse snv DHX33 silent A274A NM_020162 10-PASKHT DHX33 SYNONYMOUS SNP dbsnp.126:rs34034188 Somatic 13 0.549 SQHIGH 21 17 38 0 34 34 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56919 17 5364286 5364286 74 ALL relapse snv AIPL1 missense R311H NM_014336 10-PASKHT AIPL1 MISSENSE SNP Somatic -1 0.095 SQHIGH 15 25 40 0 29 29 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23746 17 6329003 6329003 41 ALL relapse snv SHBG silent S292S NM_001040 10-PASKHT SHBG|SAT2 SYNONYMOUS,INTRON,UTR|TSS-UPSTREAM SNP Somatic 2 0.134 SQHIGH 18 49 67 0 81 81 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6462|112483 17 7536093 7536093 68 ALL relapse snv TP53 missense R248Q NM_000546 10-PASKHT TP53 MISSENSE SNP dbsnp.120:rs11540652 Somatic 11 0.425 SQHIGH 34 39 73 1 56 57 COSMIC:mut:10662,COSMIC:mut:99020,COSMIC:mut:99021,COSMIC:mut:99602 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7157 17 7577538 7577538 91 ALL relapse snv TP53 missense R158H NM_000546 10-PASKHT TP53 MISSENSE SNP Somatic -4 0.070 SQHIGH 10 32 42 0 38 38 COSMIC:mut:10690 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7157 17 7578457 7578457 30 ALL relapse snv KCNAB3 missense R20H NM_004732 10-PASKHT KCNAB3|CNTROB MISSENSE|TSS-UPSTREAM SNP Somatic 2 0.134 SQHIGH 9 11 20 0 19 19 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9196|116840 17 7832695 7832695 31 ALL relapse snv MYH3 silent N1751N NM_002470 10-PASKHT MYH3 SYNONYMOUS SNP Somatic PFAM:PF01576:Myosin_tail_1 -5 0.064 SQHIGH 9 19 28 0 14 14 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4621 17 10534961 10534961 18 ALL relapse snv MYH3 missense R820H NM_002470 10-PASKHT MYH3 MISSENSE SNP Somatic 2 0.134 SQHIGH 13 44 57 1 73 74 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4621 17 10543536 10543536 41 ALL relapse snv DNAH9 missense R1811C NM_001372 10-PASKHT DNAH9 MISSENSE SNP Somatic 5 0.200 SQHIGH 22 35 57 0 49 49 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1770 17 11608381 11608381 69 ALL relapse snv ATPAF2 missense G170S NM_145691 10-PASKHT ATPAF2 MISSENSE SNP Somatic 13 0.549 SQHIGH 42 42 84 0 71 71 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 91647 17 17925167 17925167 140 ALL relapse snv MYO15A silent P395P NM_016239 10-PASKHT MYO15A SYNONYMOUS SNP Somatic -4 0.070 SQHIGH 15 61 76 0 52 52 COSMIC:mut:51052 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51168 17 18023299 18023299 37 ALL relapse snv MIEF2 silent S99S NM_139162 10-PASKHT FLII|SMCR7 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 0 0.107 SQHIGH 18 33 51 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2314|125170 17 18166549 18166549 50 ALL relapse snv EVPLL silent G128G NM_001145127 10-PASKHT EVPLL|LOC100652861 SYNONYMOUS|UTR SNP Somatic 17 0.911 SQHIGH 38 22 60 0 41 41 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 645027|100652861 17 18285864 18285864 118 ALL relapse snv FOXO3B EXON E4_exon NM_001145045 10-PASKHT FOXO3B|ZNF286B UTR|INTRON SNP Somatic 6 0.229 SQHIGH 26 52 78 0 39 39 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2310|729288 17 18574994 18574994 53 ALL relapse snv MAPK7 missense A579T NM_139033 10-PASKHT MAPK7 MISSENSE SNP Somatic 10 0.372 SQHIGH 14 27 41 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5598 17 19285351 19285351 42 ALL relapse snv RNF112 silent P118P NM_007148 10-PASKHT RNF112 SYNONYMOUS SNP Somatic 0 0.107 SQHIGH 20 23 43 0 30 30 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7732 17 19316069 19316069 57 ALL relapse snv NOS2 missense V231M NM_000625 10-PASKHT NOS2 MISSENSE SNP Somatic 11 0.425 SQHIGH 40 45 85 0 81 81 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4843 17 26109072 26109072 142 ALL relapse snv MYO18A missense R1124H NM_078471 10-PASKHT MYO18A MISSENSE SNP Somatic 1 0.118 SQHIGH 20 49 69 0 52 52 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 399687 17 27434168 27434168 55 ALL relapse snv GOSR1 nonsense R43* NM_004871 10-PASKHT GOSR1 UTR5,NONSENSE SNP Somatic 12 0.482 SQHIGH 15 27 42 0 40 40 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9527 17 28808256 28808256 50 ALL relapse snv SLC35G3 missense D92N NM_152462 10-PASKHT SLC35G3 MISSENSE SNP Somatic 4 0.169 SQHIGH 26 51 77 1 56 57 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 146861 17 33521053 33521053 60 ALL relapse snv SLFN5 missense R319H NM_144975 10-PASKHT SLFN5 MISSENSE SNP Somatic 4 0.169 SQHIGH 23 44 67 0 68 68 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 162394 17 33586665 33586665 80 ALL relapse snv SRCIN1 silent R501R NM_025248 10-PASKHT SRCIN1 SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 6 15 21 0 21 21 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 80725 17 36717896 36717896 20 ALL relapse snv KRT25 missense R72Q NM_181534 10-PASKHT KRT25 MISSENSE SNP Somatic -7 0.055 SQHIGH 36 33 69 0 56 56 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 147183 17 38911309 38911309 118 ALL relapse snv KRT32 silent T341T NM_002278 10-PASKHT KRT32 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament 5 0.200 SQHIGH 29 45 74 0 57 57 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3882 17 39619276 39619276 85 ALL relapse snv C17orf53 missense T520M NM_024032 10-PASKHT C17orf53 MISSENSE SNP Somatic 5 0.200 SQHIGH 22 45 67 0 55 55 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 78995 17 42232030 42232030 65 ALL relapse snv NGFR silent S40S NM_002507 10-PASKHT NGFR SYNONYMOUS SNP Somatic 15 0.748 SQHIGH 16 22 38 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4804 17 47579478 47579478 60 ALL relapse snv MYCBPAP silent A572A NM_032133 10-PASKHT MYCBPAP SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 18 47 65 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84073 17 48601097 48601097 51 ALL relapse snv MKS1 missense R536Q NM_017777 10-PASKHT MKS1 MISSENSE SNP Somatic 6 0.229 SQHIGH 27 28 55 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 54903 17 56283513 56283513 84 ALL relapse snv BRIP1 silent P1092P NM_032043 10-PASKHT BRIP1 SYNONYMOUS SNP Somatic -1 0.095 SQHIGH 13 43 56 0 50 50 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 83990 17 59761131 59761131 39 ALL relapse snv MED13 silent A878A NM_005121 10-PASKHT MED13 SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 10 18 28 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9969 17 60062069 60062069 37 ALL relapse snv AXIN2 silent P35P NM_004655 10-PASKHT AXIN2 SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 19 36 55 1 41 42 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8313 17 63554634 63554634 43 ALL relapse snv SLC39A11 missense V284M NM_001159770 10-PASKHT SLC39A11 MISSENSE SNP Somatic PFAM:PF02535:Zip 17 0.911 SQHIGH 20 25 45 0 60 60 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 201266 17 70645042 70645042 87 ALL relapse snv SDK2 missense R941H NM_001144952 10-PASKHT SDK2 MISSENSE SNP Somatic 14 0.630 SQHIGH 31 36 67 0 69 69 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 54549 17 71397308 71397308 115 ALL relapse snv GRIN2C silent T31T NM_000835 10-PASKHT GRIN2C SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 14 72 86 0 63 63 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2905 17 72851139 72851139 36 ALL relapse snv RPTOR silent Y692Y NM_020761 10-PASKHT RPTOR SYNONYMOUS SNP Somatic 14 0.630 SQHIGH 39 43 82 0 54 54 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57521 17 78865612 78865612 107 ALL relapse snv AATK silent S528S NM_001080395 10-PASKHT AATK|MIR3065 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 0 0.107 SQHIGH 24 11 35 0 14 14 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9625|100422915 17 79096152 79096152 52 ALL relapse snv LOC727896 EXON E4_exon NM_014646 10-PASKHT LPIN2|LOC727896 INTRON|UTR SNP Somatic 5 0.200 SQHIGH 19 40 59 0 61 61 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9663|727896 18 2946512 2946512 66 ALL relapse snv DLGAP1 nonsense R804* NM_004746 10-PASKHT DLGAP1 NONSENSE SNP Somatic PFAM:PF03359:GKAP 13 0.549 SQHIGH 29 22 51 1 48 49 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9229 18 3534261 3534261 96 ALL relapse snv L3MBTL4-AS1 EXON E5_exon NM_173464 10-PASKHT L3MBTL4 INTRON SNP Somatic 11 0.425 SQHIGH 47 55 102 1 69 70 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 91133 18 6258722 6258722 117 ALL relapse snv LOC101927188 EXON E55_exon NM_005559 10-PASKHT LAMA1 INTRON SNP Somatic 14 0.630 SQHIGH 41 31 72 0 54 54 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 284217 18 6957109 6957109 131 ALL relapse snv PTPRM nonsense R952* NM_001105244 10-PASKHT PTPRM NONSENSE SNP Somatic 13 0.549 SQHIGH 15 17 32 0 34 34 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5797 18 8314790 8314790 57 ALL relapse snv GREB1L missense C1688Y NM_001142966 10-PASKHT GREB1L MISSENSE SNP Somatic 12 0.482 SQHIGH 18 26 44 0 66 66 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 80000 18 19095539 19095539 83 ALL relapse snv KCTD1 silent H185H NM_001136205 10-PASKHT KCTD1 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 28 35 63 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 284252 18 24039644 24039644 98 ALL relapse snv DSC2 missense M786T NM_024422 10-PASKHT DSC2 MISSENSE SNP Somatic 20 1.000 SQHIGH 18 21 39 2 40 42 Cosmic_Gene A A G A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1824 18 28649011 28649011 49 ALL relapse snv DSG4 silent Y930Y NM_001134453 10-PASKHT DSG4 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 21 31 52 0 54 54 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 147409 18 28993168 28993168 76 ALL relapse snv MEP1B silent T526T NM_005925 10-PASKHT MEP1B SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 19 53 72 0 65 65 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4225 18 29793521 29793521 59 ALL relapse snv CCDC178 missense R82Q NM_001105528 10-PASKHT CCDC178 MISSENSE SNP dbsnp.129:rs61745348 Somatic 18 0.949 SQHIGH 16 17 33 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 374864 18 30950117 30950117 50 ALL relapse snv FHOD3 missense R341Q NM_025135 10-PASKHT FHOD3 MISSENSE SNP Somatic 2 0.134 SQHIGH 21 34 55 0 39 39 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 80206 18 34205538 34205538 58 ALL relapse snv PIK3C3 silent S851S NM_002647 10-PASKHT PIK3C3 SYNONYMOUS SNP Somatic 11 0.425 SQHIGH 14 30 44 0 48 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5289 18 39647381 39647381 50 ALL relapse snv LOXHD1 silent P1017P NM_144612 10-PASKHT LOXHD1 SYNONYMOUS,TSS-UPSTREAM SNP Somatic 16 0.814 SQHIGH 14 11 25 0 23 23 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 125336 18 44140056 44140056 50 ALL relapse snv MYO5B silent P1501P NM_001080467 10-PASKHT MYO5B SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 24 37 61 0 42 42 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4645 18 47369719 47369719 65 ALL relapse snv MYO5B silent L487L NM_001080467 10-PASKHT MYO5B SYNONYMOUS SNP Somatic 8 0.291 SQHIGH 39 48 87 0 60 60 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4645 18 47488720 47488720 109 ALL relapse snv MYO5B missense V183I NM_001080467 10-PASKHT MYO5B MISSENSE SNP Somatic -2 0.086 SQHIGH 10 39 49 1 30 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4645 18 47527690 47527690 16 ALL relapse snv MBD1 missense E323K NM_015846 10-PASKHT MBD1 INTRON,MISSENSE SNP Somatic -1 0.095 SQHIGH 11 40 51 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4152 18 47801358 47801358 27 ALL relapse snv ONECUT2 missense M133K NM_004852 10-PASKHT ONECUT2 MISSENSE SNP Somatic 5 0.200 SQHIGH 8 12 20 0 20 20 Cosmic_Gene T T A T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9480 18 55103346 55103346 28 ALL relapse snv PIGN silent A521A NM_176787 10-PASKHT PIGN SYNONYMOUS SNP Somatic PFAM:PF04987:PigN 10 0.372 SQHIGH 12 23 35 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23556 18 59777078 59777078 32 ALL relapse snv FBXO15 missense G58R NM_001142958 10-PASKHT FBXO15 UTR5,MISSENSE SNP Somatic 11 0.425 SQHIGH 9 18 27 0 23 23 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 201456 18 71807492 71807492 27 ALL relapse snv MBP missense R55Q NM_001025081 10-PASKHT MBP MISSENSE SNP Somatic PFAM:PF01669:Myelin_MBP 5 0.200 SQHIGH 21 42 63 0 72 72 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4155 18 74728801 74728801 79 ALL relapse snv SALL3 silent P1087P NM_171999 10-PASKHT SALL3 SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 9 15 24 0 22 22 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 27164 18 76755252 76755252 29 ALL relapse snv NFATC1 silent P234P NM_172390 10-PASKHT NFATC1 SYNONYMOUS,INTRON SNP Somatic 5 0.200 SQHIGH 23 18 41 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4772 18 77170977 77170977 78 ALL relapse snv KCNG2 missense R410C NM_012283 10-PASKHT KCNG2 MISSENSE SNP Somatic 7 0.259 SQHIGH 14 27 41 0 34 34 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26251 18 77659643 77659643 42 ALL relapse snv KCNG2 missense T434M NM_012283 10-PASKHT KCNG2 MISSENSE SNP Somatic 9 0.329 SQHIGH 13 27 40 0 26 26 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26251 18 77659716 77659716 32 ALL relapse snv RBFA silent T143T NM_024805 10-PASKHT RBFA SYNONYMOUS SNP Somatic PFAM:PF02033:RBFA 4 0.169 SQHIGH 12 11 23 0 20 20 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79863 18 77798555 77798555 41 ALL relapse snv ATP8B3 silent T497T NM_138813 10-PASKHT ATP8B3 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 19 42 61 1 57 58 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 148229 19 1800007 1800007 51 ALL relapse snv TMPRSS9 silent A230A NM_182973 10-PASKHT TMPRSS9 SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 11 33 44 0 27 27 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 360200 19 2405493 2405493 25 ALL relapse snv TMPRSS9 missense G363D NM_182973 10-PASKHT TMPRSS9 MISSENSE SNP Somatic -5 0.064 SQHIGH 7 42 49 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 360200 19 2410328 2410328 21 ALL relapse snv GNA11 missense K345M NM_002067 10-PASKHT GNA11 MISSENSE SNP Somatic 7 0.259 SQHIGH 26 48 74 0 48 48 Cosmic_Gene A A T A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2767 19 3121131 3121131 66 ALL relapse snv PIAS4 silent G462G NM_015897 10-PASKHT PIAS4 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 34 40 74 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 51588 19 4037726 4037726 88 ALL relapse snv ANKRD24 missense T582M NM_133475 10-PASKHT ANKRD24 MISSENSE SNP Somatic 12 0.482 SQHIGH 23 24 47 0 46 47 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 170961 19 4216902 4216902 84 ALL relapse snv SEMA6B silent P886P NM_032108 10-PASKHT SEMA6B|LRG1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -9 0.047 SQHIGH 9 9 18 0 12 12 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10501|116844 19 4543622 4543622 25 ALL relapse snv SEMA6B missense R420Q NM_032108 10-PASKHT SEMA6B MISSENSE SNP Somatic PFAM:PF01403:Sema 5 0.200 SQHIGH 20 32 52 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10501 19 4550147 4550147 62 ALL relapse snv ARRDC5 missense R292H NM_001080523 10-PASKHT ARRDC5 MISSENSE SNP Somatic PFAM:PF00339:Arrestin_N 9 0.329 SQHIGH 9 21 30 0 35 35 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 645432 19 4891212 4891212 33 ALL relapse snv PTPRS missense V954M NM_002850 10-PASKHT PTPRS INTRON,MISSENSE SNP Somatic 10 0.372 SQHIGH 16 16 32 0 19 19 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5802 19 5222943 5222943 41 ALL relapse snv ZNRF4 missense A178T NM_181710 10-PASKHT ZNRF4 MISSENSE SNP Somatic 1 0.118 SQHIGH 12 30 42 1 24 25 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 148066 19 5456034 5456034 19 ALL relapse snv SLC25A41 missense V316M NM_173637 10-PASKHT SLC25A41|KHSRP MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00153:Mito_carr 14 0.630 SQHIGH 19 30 49 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 284427|8570 19 6426567 6426567 61 ALL relapse snv DENND1C missense G152R NM_024898 10-PASKHT DENND1C MISSENSE SNP Somatic PFAM:PF02141:DENN 6 0.229 SQHIGH 13 15 28 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79958 19 6477288 6477288 48 ALL relapse snv C3 missense R1532W NM_000064 10-PASKHT C3 MISSENSE SNP Somatic -7 0.055 SQHIGH 10 56 66 0 66 66 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 718 19 6679172 6679172 32 ALL relapse snv PNPLA6 missense D601G NM_001166111 10-PASKHT PNPLA6 MISSENSE SNP Somatic 3 0.149 SQHIGH 16 38 54 0 46 46 Cosmic_Gene A A G A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10908 19 7614959 7614959 48 ALL relapse snv PNPLA6 missense R1068C NM_001166111 10-PASKHT PNPLA6 MISSENSE SNP Somatic 10 0.372 SQHIGH 25 33 58 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10908 19 7621417 7621417 75 ALL relapse snv PNPLA6 splice_region G1104_E29splice_region NM_001166111 10-PASKHT PNPLA6 ACCEPTOR SNP Somatic 1 0.118 SQHIGH 7 28 35 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10908 19 7622047 7622047 22 ALL relapse snv LRRC8E silent A382A NM_025061 10-PASKHT MAP2K7|LRRC8E TSS-UPSTREAM|SYNONYMOUS SNP Somatic 9 0.329 SQHIGH 20 35 55 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5609|80131 19 7964553 7964553 46 ALL relapse snv COL5A3 silent D1624D NM_015719 10-PASKHT COL5A3 SYNONYMOUS SNP Somatic PFAM:PF01410:COLFI 6 0.229 SQHIGH 18 52 70 1 48 49 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 50509 19 10071546 10071546 36 ALL relapse snv P2RY11 silent T221T NM_002566 10-PASKHT PPAN-P2RY11|P2RY11 UTR3,SYNONYMOUS|SYNONYMOUS SNP Somatic -2 0.086 SQHIGH 11 12 23 0 17 17 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 692312|5032 19 10224952 10224952 32 ALL relapse snv DNMT1 missense A890T NM_001130823 10-PASKHT DNMT1 MISSENSE SNP Somatic 3 0.149 SQHIGH 28 51 79 1 59 60 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1786 19 10259612 10259612 68 ALL relapse snv RAVER1 missense R218H NM_133452 10-PASKHT RAVER1 MISSENSE SNP Somatic -11 0.040 6 27 33 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 125950 19 10439472 10439472 19 ALL relapse snv TYK2 missense A228T NM_003331 10-PASKHT TYK2 MISSENSE SNP Somatic 10 0.372 SQHIGH 13 33 46 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7297 19 10476522 10476522 39 ALL relapse snv KEAP1 silent T543T NM_203500 10-PASKHT KEAP1 SYNONYMOUS SNP Somatic PFAM:PF01344:Kelch_1 8 0.291 SQHIGH 31 44 75 0 63 63 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9817 19 10599947 10599947 98 ALL relapse snv SMARCA4 silent P1297P NM_001128849 10-PASKHT SMARCA4 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 25 38 63 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6597 19 11144816 11144816 72 ALL relapse snv LDLR missense R574H NM_000527 10-PASKHT LDLR MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b 5 0.200 SQHIGH 15 43 58 0 62 63 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3949 19 11227550 11227550 52 ALL relapse snv DOCK6 missense V687M NM_020812 10-PASKHT DOCK6|C19orf80 MISSENSE|TSS-UPSTREAM SNP Somatic 3 0.149 SQHIGH 23 39 62 1 43 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57572|55908 19 11348146 11348146 52 ALL relapse snv DOCK6 missense R209Q NM_020812 10-PASKHT DOCK6 MISSENSE SNP Somatic 1 0.118 SQHIGH 13 35 48 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57572 19 11361644 11361644 40 ALL relapse snv ECSIT missense L412R NM_016581 10-PASKHT ZNF653|ECSIT TSS-UPSTREAM|UTR3,MISSENSE,UTR SNP Somatic 12 0.482 SQHIGH 14 16 30 0 32 32 Cosmic_Gene A A C A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 115950|51295 19 11617060 11617060 53 ALL relapse snv ZNF625 missense R211Q NM_145233 10-PASKHT ZNF625|ZNF625-ZNF20 MISSENSE,UTR|INTRON SNP Somatic 6 0.229 SQHIGH 20 52 72 0 65 65 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 90589|100529855 19 12256599 12256599 62 ALL relapse snv SYCE2 missense R85Q NM_001105578 10-PASKHT SYCE2 MISSENSE SNP Somatic 3 0.149 SQHIGH 26 48 74 0 58 58 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 256126 19 13015358 13015358 76 ALL relapse snv NACC1 missense R421H NM_052876 10-PASKHT NACC1 MISSENSE SNP Somatic PFAM:PF10523:BEN 6 0.229 SQHIGH 25 43 68 0 49 49 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 112939 19 13248327 13248327 69 ALL relapse snv OR7C1 silent T133T NM_198944 10-PASKHT OR7C1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 17 0.911 SQHIGH 21 22 43 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 26664 19 14910550 14910550 75 ALL relapse snv NOTCH3 missense G881S NM_000435 10-PASKHT NOTCH3 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 3 0.149 SQHIGH 29 41 70 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4854 19 15292538 15292538 75 ALL relapse snv CYP4F2 missense R108Q NM_001082 10-PASKHT CYP4F2 MISSENSE SNP dbsnp.134:rs148396222 Somatic PFAM:PF00067:p450 4 0.169 SQHIGH 30 47 77 0 61 61 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 8529 19 16006336 16006336 90 ALL relapse snv CYP4F11 missense G426R NM_021187 10-PASKHT CYP4F11 MISSENSE SNP Somatic PFAM:PF00067:p450 0 0.107 SQHIGH 37 66 103 1 74 75 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57834 19 16025450 16025450 89 ALL relapse snv JAK3 missense R172Q NM_000215 10-PASKHT JAK3 MISSENSE SNP Somatic -4 0.070 SQHIGH 12 19 31 0 30 30 COSMIC:mut:110718 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3718 19 17953887 17953887 41 ALL relapse snv CRTC1 missense P370L NM_015321 10-PASKHT CRTC1 MISSENSE SNP Somatic 14 0.630 SQHIGH 12 8 20 0 23 23 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23373 19 18879392 18879392 51 ALL relapse snv CRTC1 missense T416M NM_015321 10-PASKHT CRTC1 MISSENSE SNP Somatic 0 0.107 SQHIGH 13 17 30 0 17 17 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23373 19 18879530 18879530 31 ALL relapse snv ARMC6 missense R91H NM_033415 10-PASKHT ARMC6 MISSENSE SNP Somatic 2 0.134 SQHIGH 15 40 55 1 59 60 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 93436 19 19162498 19162498 43 ALL relapse snv ATP13A1 missense R569Q NM_020410 10-PASKHT ATP13A1 MISSENSE SNP Somatic 5 0.200 SQHIGH 20 36 56 0 62 62 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57130 19 19765459 19765459 74 ALL relapse snv ZNF431 missense R299Q NM_133473 10-PASKHT ZNF431 MISSENSE SNP Somatic -4 0.070 SQHIGH 19 27 46 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 170959 19 21366002 21366002 61 ALL relapse snv LOC641367 EXON E2_exon NM_173531 10-PASKHT LOC641367|ZNF100 UTR|INTRON SNP Somatic 5 0.200 SQHIGH 26 43 69 0 49 49 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 641367|163227 19 21933777 21933777 71 ALL relapse snv LRP3 splice_region R531_E5splice_region NM_002333 10-PASKHT LRP3 INTRON SNP Somatic -3 0.077 SQHIGH 9 31 40 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4037 19 33697275 33697275 26 ALL relapse snv ATP4A missense R951H NM_000704 10-PASKHT ATP4A MISSENSE SNP Somatic PFAM:PF00689:Cation_ATPase_C 0 0.107 SQHIGH 15 39 54 2 43 45 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 495 19 36042382 36042382 28 ALL relapse snv ATP4A missense R434Q NM_000704 10-PASKHT ATP4A MISSENSE SNP Somatic 4 0.169 SQHIGH 16 47 63 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 495 19 36049543 36049543 41 ALL relapse snv ZNF829 missense P115A NM_001171979 10-PASKHT ZNF829 MISSENSE SNP Somatic 5 0.200 SQHIGH 16 42 58 0 63 63 G G C G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 374899 19 37399358 37399358 57 ALL relapse snv ZNF383 silent Y39Y NM_152604 10-PASKHT ZNF383 SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 33 48 81 0 72 72 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 163087 19 37726558 37726558 108 ALL relapse snv C19orf33 silent S13S NM_033520 10-PASKHT C19orf33|YIF1B SYNONYMOUS|UTR3 SNP Somatic 8 0.291 SQHIGH 15 29 44 0 32 32 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64073|90522 19 38795031 38795031 41 ALL relapse snv PSMD8 missense A343V NM_002812 10-PASKHT PSMD8 MISSENSE SNP Somatic 15 0.748 SQHIGH 30 28 58 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5714 19 38874005 38874005 93 ALL relapse snv GGN missense R539C NM_152657 10-PASKHT GGN|SPRED3 MISSENSE|TSS-UPSTREAM SNP Somatic 2 0.134 SQHIGH 21 43 64 1 38 39 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 199720|399473 19 38876287 38876287 40 ALL relapse snv RYR1 missense R1130C NM_000540 10-PASKHT RYR1 MISSENSE SNP Somatic PFAM:PF00622:SPRY -8 0.051 SQHIGH 24 34 58 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6261 19 38959612 38959612 54 ALL relapse snv RYR1 missense R3498C NM_000540 10-PASKHT RYR1 MISSENSE SNP Somatic 5 0.200 SQHIGH 26 66 92 1 72 73 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6261 19 39016008 39016008 62 ALL relapse snv RYR1 missense R3502W NM_000540 10-PASKHT RYR1 MISSENSE SNP Somatic 3 0.149 SQHIGH 28 53 81 0 50 50 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6261 19 39016020 39016020 68 ALL relapse snv LRFN1 missense G660R NM_020862 10-PASKHT LRFN1 MISSENSE SNP Somatic 4 0.169 SQHIGH 12 18 30 0 23 23 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57622 19 39798611 39798611 35 ALL relapse snv DLL3 silent P217P NM_016941 10-PASKHT DLL3 SYNONYMOUS SNP Somatic 0 0.107 SQHIGH 11 45 56 0 49 49 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10683 19 39993696 39993696 32 ALL relapse snv CEACAM6 silent T314T NM_002483 10-PASKHT CEACAM6 SYNONYMOUS SNP Somatic 15 0.748 SQHIGH 26 29 55 0 65 65 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4680 19 42266115 42266115 106 ALL relapse snv ATP1A3 silent T831T NM_152296 10-PASKHT ATP1A3 SYNONYMOUS SNP Somatic PFAM:PF00689:Cation_ATPase_C 5 0.200 SQHIGH 24 54 78 0 61 61 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 478 19 42474386 42474386 68 ALL relapse snv ATP1A3 missense A172T NM_152296 10-PASKHT ATP1A3 MISSENSE SNP Somatic PFAM:PF00122:E1-E2_ATPase 2 0.134 SQHIGH 32 54 86 1 65 66 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 478 19 42490108 42490108 80 ALL relapse snv GSK3A missense V133M NM_019884 10-PASKHT GSK3A|LOC100132272 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF03109:ABC1 10 0.372 SQHIGH 34 44 78 0 73 73 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2931|100132272 19 42744181 42744181 117 ALL relapse snv MEGF8 missense R2065Q NM_001410 10-PASKHT MEGF8 MISSENSE SNP Somatic 7 0.259 SQHIGH 14 18 32 2 46 48 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1954 19 42872728 42872728 47 ALL relapse snv PHLDB3 missense R592H NM_198850 10-PASKHT PHLDB3 MISSENSE SNP Somatic 3 0.149 SQHIGH 14 39 53 1 51 52 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 653583 19 43982212 43982212 36 ALL relapse snv ZNF45 missense R324Q NM_003425 10-PASKHT ZNF45 MISSENSE SNP Somatic 1 0.118 SQHIGH 13 63 76 0 76 76 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7596 19 44418617 44418617 42 ALL relapse snv ZNF230 silent H263H NM_006300 10-PASKHT ZNF230 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 19 47 66 0 48 48 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7773 19 44514980 44514980 51 ALL relapse snv ZNF234 missense R495H NM_006630 10-PASKHT ZNF234 MISSENSE SNP Somatic 4 0.169 SQHIGH 25 80 105 0 70 70 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10780 19 44661653 44661653 61 ALL relapse snv EML2 missense V486M NM_012155 10-PASKHT EML2 MISSENSE,UTR SNP Somatic PFAM:PF00400:WD40 1 0.118 SQHIGH 15 20 35 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 24139 19 46119772 46119772 56 ALL relapse snv DACT3 silent A610A NM_145056 10-PASKHT DACT3 SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 28 50 78 1 78 79 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 147906 19 47151799 47151799 85 ALL relapse snv ZC3H4 silent S172S NM_015168 10-PASKHT ZC3H4 SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 12 14 26 0 15 15 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23211 19 47593423 47593423 29 ALL relapse snv EHD2 silent R251R NM_014601 10-PASKHT EHD2 SYNONYMOUS SNP Somatic 1 0.118 SQHIGH 14 52 66 0 55 55 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 30846 19 48229319 48229319 40 ALL relapse snv CCDC114 missense G564S NM_144577 10-PASKHT CCDC114 MISSENSE SNP Somatic 11 0.425 SQHIGH 14 29 43 0 34 34 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 93233 19 48800556 48800556 40 ALL relapse snv KDELR1 silent T92T NM_006801 10-PASKHT KDELR1 SYNONYMOUS SNP Somatic PFAM:PF00810:ER_lumen_recept 2 0.134 SQHIGH 16 45 61 0 34 34 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10945 19 48892885 48892885 34 ALL relapse snv GRIN2D missense W398R NM_000836 10-PASKHT GRIN2D MISSENSE SNP Somatic 13 0.549 SQHIGH 28 31 59 0 49 49 Cosmic_Gene T T C T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2906 19 48917354 48917354 90 ALL relapse snv GYS1 missense R586Q NM_002103 10-PASKHT GYS1 MISSENSE,UTR SNP Somatic PFAM:PF05693:Glycogen_syn -6 0.060 SQHIGH 8 21 29 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2997 19 49473855 49473855 25 ALL relapse snv CPT1C missense R155H NM_001136052 10-PASKHT CPT1C MISSENSE SNP Somatic -10 0.043 SQHIGH 7 45 52 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 126129 19 50204584 50204584 20 ALL relapse snv TSKS missense T130M NM_021733 10-PASKHT AP2A1|TSKS TSS-UPSTREAM|MISSENSE SNP Somatic 15 0.748 SQHIGH 46 48 94 0 63 63 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 160|60385 19 50265271 50265271 129 ALL relapse snv IL4I1 silent G66G NM_152899 10-PASKHT IL4I1 SYNONYMOUS SNP dbsnp.134:rs138779872 Somatic 12 0.482 SQHIGH 22 27 49 0 47 47 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 259307 19 50399126 50399126 77 ALL relapse snv MYBPC2 missense R157C NM_004533 10-PASKHT MYBPC2 MISSENSE SNP Somatic 2 0.134 SQHIGH 31 65 96 0 69 69 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4606 19 50940735 50940735 84 ALL relapse snv ZNF649 silent T285T NM_023074 10-PASKHT ZNF649|LOC100506174|ZNF577 SYNONYMOUS|INTRON|TSS-UPSTREAM SNP Somatic 7 0.259 SQHIGH 23 58 81 1 57 58 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 65251|100506174|84765 19 52394534 52394534 50 ALL relapse snv ZNF649 missense R34Q NM_023074 10-PASKHT ZNF649|LOC100506174 MISSENSE|INTRON SNP Somatic 2 0.134 SQHIGH 11 38 49 0 54 54 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 65251|100506174 19 52400146 52400146 38 ALL relapse snv ZNF83 missense R168C NM_001105549 10-PASKHT ZNF83 MISSENSE SNP dbsnp.134:rs143166499 Somatic 11 0.425 SQHIGH 17 29 46 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55769 19 53117316 53117316 63 ALL relapse snv ZNF761 missense G630R NM_001008401 10-PASKHT ZNF761 MISSENSE SNP Somatic -1 0.095 SQHIGH 9 38 47 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 388561 19 53959649 53959649 23 ALL relapse snv MYADM silent Y286Y NM_001020818 10-PASKHT MYADM SYNONYMOUS SNP Somatic -3 0.077 SQHIGH 24 31 55 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 91663 19 54377641 54377641 53 ALL relapse snv NLRP7 silent A313A NM_139176 10-PASKHT NLRP7 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 5 0.200 SQHIGH 14 17 31 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 199713 19 55451248 55451248 38 ALL relapse snv PPP6R1 silent P544P NM_014931 10-PASKHT PPP6R1 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 19 30 49 0 38 38 Cosmic_Gene A A G A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 22870 19 55750983 55750983 56 ALL relapse snv SUV420H2 missense R331W NM_032701 10-PASKHT SUV420H2 MISSENSE SNP Somatic -3 0.077 SQHIGH 7 22 29 0 20 20 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84787 19 55858419 55858419 17 ALL relapse snv SHISA7 missense A351T NM_001145176 10-PASKHT SHISA7 MISSENSE SNP Somatic -3 0.077 SQHIGH 13 23 36 0 16 16 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 729956 19 55945089 55945089 24 ALL relapse snv NLRP4 missense A431V NM_134444 10-PASKHT NLRP4 MISSENSE SNP Somatic 6 0.229 SQHIGH 11 20 31 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 147945 19 56370051 56370051 33 ALL relapse snv ZNF444 silent T187T NM_018337 10-PASKHT ZNF444 SYNONYMOUS SNP dbsnp.134:rs147982563 Somatic -5 0.064 SQHIGH 8 12 20 0 27 27 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55311 19 56671147 56671147 34 ALL relapse snv ZFP28 nonsense R465* NM_020828 10-PASKHT ZFP28|LOC100506419 NONSENSE|INTRON SNP Somatic 5 0.200 SQHIGH 18 43 61 0 59 59 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 140612|100506419 19 57065547 57065547 59 ALL relapse snv TGM3 missense G243S NM_003245 10-PASKHT TGM3 MISSENSE SNP dbsnp.134:rs143810711 Somatic 4 0.169 SQHIGH 14 56 70 0 54 54 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7053 20 2297771 2297771 38 ALL relapse snv TGM6 missense T41M NM_198994 10-PASKHT TGM6 MISSENSE SNP Somatic PFAM:PF00868:Transglut_N 15 0.748 SQHIGH 24 25 49 1 31 32 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 343641 20 2375212 2375212 54 ALL relapse snv UBOX5 missense G184S NM_014948 10-PASKHT LOC100134015|UBOX5 INTRON|MISSENSE SNP Somatic 4 0.169 SQHIGH 22 42 64 0 75 75 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 100134015|22888 20 3102735 3102735 84 ALL relapse snv ISM1-AS1 EXON E1_exon NM_080826 10-PASKHT ISM1|LOC100505536 INTRON|UTR SNP Somatic 4 0.169 SQHIGH 15 37 52 0 56 56 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 140862|100505536 20 13220285 13220285 53 ALL relapse snv RALGAPA2 missense T1311M NM_020343 10-PASKHT RALGAPA2 MISSENSE SNP Somatic 4 0.169 SQHIGH 14 32 46 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57186 20 20501713 20501713 46 ALL relapse snv ACSS1 missense G98D NM_032501 10-PASKHT ACSS1 MISSENSE SNP Somatic PFAM:PF11930:DUF3448 4 0.169 SQHIGH 15 35 50 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84532 20 25038446 25038446 42 ALL relapse snv TPX2 missense R460T NM_012112 10-PASKHT TPX2 MISSENSE SNP Somatic PFAM:PF12214:TPX2_importin 17 0.911 SQHIGH 32 35 67 0 60 60 Cosmic_Gene G G C G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 22974 20 30371690 30371690 109 ALL relapse snv AAR2 missense R84Q NM_015511 10-PASKHT AAR2 MISSENSE SNP Somatic PFAM:PF05282:AAR2 -7 0.055 SQHIGH 8 48 56 0 59 59 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 25980 20 34828041 34828041 26 ALL relapse snv SRC silent A421A NM_005417 10-PASKHT SRC SYNONYMOUS SNP Somatic 9 0.329 SQHIGH 35 44 79 0 58 58 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6714 20 36030984 36030984 102 ALL relapse snv TGM2 silent T360T NM_004613 10-PASKHT TGM2 SYNONYMOUS SNP Somatic PFAM:PF01841:Transglut_core 2 0.134 SQHIGH 34 42 76 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7052 20 36769703 36769703 74 ALL relapse snv EMILIN3 missense R338W NM_052846 10-PASKHT EMILIN3 MISSENSE SNP dbsnp.134:rs143068226 Somatic 11 0.425 SQHIGH 20 29 49 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 90187 20 39991197 39991197 55 ALL relapse snv CHD6 missense R526W NM_032221 10-PASKHT CHD6 MISSENSE SNP Somatic PFAM:PF00176:SNF2_N 3 0.149 SQHIGH 15 36 51 1 46 47 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84181 20 40118522 40118522 38 ALL relapse snv JPH2 missense D284N NM_020433 10-PASKHT JPH2 MISSENSE SNP Somatic 12 0.482 SQHIGH 19 13 32 0 28 28 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57158 20 42788577 42788577 68 ALL relapse snv PI3 silent C83C NM_002638 10-PASKHT PI3 SYNONYMOUS SNP dbsnp.134:rs145742984 Somatic 1 0.118 SQHIGH 11 56 67 0 54 54 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5266 20 43804671 43804671 30 ALL relapse snv SEMG1 missense G42R NM_003007 10-PASKHT SEMG1 MISSENSE SNP dbsnp.134:rs150756174 Somatic PFAM:PF05474:Semenogelin 5 0.200 SQHIGH 17 50 67 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6406 20 43836062 43836062 46 ALL relapse snv SLC12A5 silent T178T NM_001134771 10-PASKHT SLC12A5 SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 22 41 63 0 66 66 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57468 20 44665418 44665418 78 ALL relapse snv ARFGEF2 missense G284R NM_006420 10-PASKHT ARFGEF2 MISSENSE SNP Somatic 11 0.425 SQHIGH 25 31 56 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10564 20 47580378 47580378 90 ALL relapse snv CEBPB silent S119S NM_005194 10-PASKHT CEBPB SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 9 15 24 0 23 23 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1051 20 48807927 48807927 30 ALL relapse snv KCNG1 missense R88C NM_002237 10-PASKHT KCNG1 MISSENSE SNP Somatic PFAM:PF00651:BTB 2 0.134 SQHIGH 24 38 62 1 40 41 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3755 20 49626614 49626614 51 ALL relapse snv CASS4 missense V176M NM_001164116 10-PASKHT CASS4 MISSENSE SNP dbsnp.107:rs3746622 Somatic 8 0.291 SQHIGH 9 16 25 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57091 20 55021022 55021022 44 ALL relapse snv GNAS missense R486C NM_001077490 10-PASKHT GNAS|GNAS-AS1 INTRON,MISSENSE|TSS-UPSTREAM SNP Somatic 7 0.259 SQHIGH 20 11 31 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2778|149775 20 57429963 57429963 62 ALL relapse snv TUBB1 missense A185V NM_030773 10-PASKHT TUBB1 MISSENSE SNP dbsnp.134:rs146846923 Somatic 6 0.229 SQHIGH 16 47 63 2 38 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 81027 20 57599036 57599036 22 ALL relapse snv CDH4 missense T634M NM_001794 10-PASKHT CDH4 MISSENSE SNP Somatic 3 0.149 SQHIGH 26 40 66 0 40 40 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1002 20 60503377 60503377 64 ALL relapse snv USP16 nonsense R455* NM_006447 10-PASKHT USP16 NONSENSE SNP Somatic 1 0.118 SQHIGH 24 43 67 1 45 46 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10600 21 30418994 30418994 52 ALL relapse snv MIS18A splice_region S175_E4splice_region NM_018944 10-PASKHT MIS18A ACCEPTOR SNP Somatic 10 0.372 SQHIGH 10 28 38 0 41 41 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 54069 21 33642124 33642124 35 ALL relapse snv SON silent S609S NM_032195 10-PASKHT SON SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 42 35 77 0 59 59 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6651 21 34923364 34923364 134 ALL relapse snv DOPEY2 silent P153P NM_005128 10-PASKHT DOPEY2 SYNONYMOUS SNP Somatic PFAM:PF04118:Dopey_N 14 0.630 SQHIGH 13 12 25 0 27 27 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9980 21 37572767 37572767 51 ALL relapse snv C2CD2 splice_region K520_E12splice_region NM_015500 10-PASKHT C2CD2 INTRON SNP Somatic 7 0.259 SQHIGH 11 22 33 1 46 47 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 25966 21 43321722 43321722 38 ALL relapse snv C2CD2 silent P467P NM_015500 10-PASKHT C2CD2 SYNONYMOUS SNP dbsnp.134:rs143536998 Somatic 5 0.200 SQHIGH 25 26 51 1 55 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 25966 21 43325864 43325864 86 ALL relapse snv PDE9A silent H303H NM_002606 10-PASKHT PDE9A SYNONYMOUS SNP dbsnp.134:rs142443164 Somatic 4 0.169 SQHIGH 30 38 68 0 64 64 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5152 21 44180449 44180449 104 ALL relapse snv PFKL silent S706S NM_002626 10-PASKHT PFKL SYNONYMOUS,UTR SNP Somatic 7 0.259 SQHIGH 24 53 77 0 64 64 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5211 21 45746070 45746070 71 ALL relapse snv TRPM2 silent P764P NM_003307 10-PASKHT TRPM2 SYNONYMOUS,UTR SNP dbsnp.134:rs148173972 Somatic 11 0.425 SQHIGH 22 23 45 1 30 31 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7226 21 45820225 45820225 51 ALL relapse snv COL6A1 missense G56R NM_001848 10-PASKHT COL6A1 MISSENSE SNP Somatic -4 0.070 SQHIGH 18 27 45 0 27 27 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1291 21 47402616 47402616 44 ALL relapse snv COL6A1 missense V759M NM_001848 10-PASKHT COL6A1 MISSENSE SNP Somatic 14 0.630 SQHIGH 11 27 38 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1291 21 47422465 47422465 36 ALL relapse snv IL17RA missense V209M NM_014339 10-PASKHT IL17RA MISSENSE SNP Somatic 10 0.372 SQHIGH 18 28 46 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23765 22 17583055 17583055 57 ALL relapse snv PI4KA missense R746Q NM_058004 10-PASKHT PI4KA MISSENSE SNP Somatic 2 0.134 SQHIGH 29 31 60 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 5297 22 21150474 21150474 92 ALL relapse snv YDJC silent C212C NM_001017964 10-PASKHT YDJC|CCDC116 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF04794:YdjC 10 0.372 SQHIGH 13 30 43 0 23 23 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 150223|164592 22 21983043 21983043 27 ALL relapse snv YPEL1 missense R47H NM_013313 10-PASKHT YPEL1 MISSENSE SNP Somatic PFAM:PF03226:Yippee -4 0.070 SQHIGH 12 37 49 0 56 56 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 29799 22 22058149 22058149 43 ALL relapse snv ZNF280A missense T526M NM_080740 10-PASKHT ZNF280A|ZNF280B MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs146604079 Somatic 13 0.549 SQHIGH 32 33 65 0 47 47 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 129025|140883 22 22868378 22868378 95 ALL relapse snv ZNF280A silent S404S NM_080740 10-PASKHT ZNF280A SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 34 46 80 0 61 61 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 129025 22 22868743 22868743 101 ALL relapse snv ADORA2A-AS1 EXON E1_exon NM_000675 10-PASKHT C22orf45|ADORA2A UTR|INTRON SNP Somatic 15 0.748 SQHIGH 12 20 32 0 35 35 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 646023|135 22 24827178 24827178 44 ALL relapse snv MYO18B silent T1853T NM_032608 10-PASKHT MYO18B SYNONYMOUS SNP dbsnp.130:rs73879602 Somatic PFAM:PF01576:Myosin_tail_1 12 0.482 SQHIGH 12 19 31 0 28 28 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 84700 22 26342144 26342144 39 ALL relapse snv MN1 silent S1218S NM_002430 10-PASKHT MN1 SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 18 30 48 1 43 44 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4330 22 28192878 28192878 48 ALL relapse snv GAL3ST1 silent R296R NM_004861 10-PASKHT GAL3ST1 SYNONYMOUS SNP Somatic PFAM:PF03567:Sulfotransfer_2 6 0.229 SQHIGH 15 23 38 1 28 29 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9514 22 30951324 30951324 34 ALL relapse snv OSBP2 missense P541L NM_030758 10-PASKHT OSBP2 MISSENSE SNP Somatic PFAM:PF01237:Oxysterol_BP 13 0.549 SQHIGH 24 22 46 1 32 33 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 23762 22 31285622 31285622 60 ALL relapse snv SMTN missense R635Q NM_134270 10-PASKHT SMTN MISSENSE SNP Somatic 5 0.200 SQHIGH 11 33 44 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6525 22 31492761 31492761 34 ALL relapse snv MCM5 missense A411T NM_006739 10-PASKHT MCM5 MISSENSE SNP Somatic PFAM:PF00485:PRK -2 0.086 SQHIGH 10 19 29 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4174 22 35811849 35811849 37 ALL relapse snv MYH9 silent T1657T NM_002473 10-PASKHT MYH9 SYNONYMOUS SNP Somatic PFAM:PF01576:Myosin_tail_1 5 0.200 SQHIGH 32 51 83 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4627 22 36682854 36682854 85 ALL relapse snv TRIOBP missense A433T NM_001039141 10-PASKHT TRIOBP MISSENSE SNP Somatic PFAM:PF05110:AF-4 -3 0.077 SQHIGH 35 55 90 0 57 57 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11078 22 38119860 38119860 89 ALL relapse snv GTPBP1 missense P406L NM_004286 10-PASKHT GTPBP1 MISSENSE SNP Somatic 8 0.291 SQHIGH 40 68 108 0 64 64 Cosmic_Gene C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9567 22 39122154 39122154 96 ALL relapse snv APOBEC3D silent N2N NM_152426 10-PASKHT APOBEC3D SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 24 41 65 0 45 45 T T C T T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 140564 22 39417530 39417530 64 ALL relapse snv MPPED1 silent P314P NM_001044370 10-PASKHT MPPED1 SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 26 53 79 1 63 64 G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 758 22 43901457 43901457 65 ALL relapse snv CELSR1 missense R1569C NM_014246 10-PASKHT CELSR1 MISSENSE SNP Somatic 5 0.200 SQHIGH 24 45 69 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 9620 22 46807563 46807563 66 ALL relapse snv PPP2R3B splice_region Q293_E6splice_region NM_013239 10-PASKHT PPP2R3B DONOR SNP Somatic 9 0.329 SQHIGH 13 12 25 0 27 27 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 28227 X 306904 306904 51 ALL relapse snv ARSE silent H316H NM_000047 10-PASKHT ARSE SYNONYMOUS SNP Somatic PFAM:PF00884:Sulfatase -5 0.064 SQHIGH 13 10 23 0 17 17 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 415 X 2864082 2864082 40 ALL relapse snv ARSH missense R161H NM_001011719 10-PASKHT ARSH MISSENSE SNP Somatic 7 0.259 SQHIGH 14 9 23 0 17 17 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 347527 X 2933152 2933152 45 ALL relapse snv MXRA5 silent H1234H NM_015419 10-PASKHT MXRA5 SYNONYMOUS SNP Somatic 20 1.000 SQHIGH 28 7 35 0 31 31 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 25878 X 3240024 3240024 117 ALL relapse snv RAI2 silent T52T NM_021785 10-PASKHT RAI2 SYNONYMOUS,INTRON,UTR SNP Somatic 20 1.000 SQHIGH 28 8 36 0 32 32 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 10742 X 17819975 17819975 115 ALL relapse snv RS1 missense R160C NM_000330 10-PASKHT RS1|CDKL5 MISSENSE|INTRON SNP Somatic 18 0.949 SQHIGH 27 12 39 0 26 26 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6247|6792 X 18662594 18662594 86 ALL relapse snv FAM47C missense S244F NM_001013736 10-PASKHT FAM47C MISSENSE SNP Somatic 9 0.329 SQHIGH 32 12 44 0 22 22 Cosmic_Gene C T C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 442444 X 37027214 37027214 85 ALL relapse snv MPC1L silent A84A NM_001195522 10-PASKHT MPC1L SYNONYMOUS SNP Somatic PFAM:PF03650:UPF0041 13 0.549 SQHIGH 12 5 17 0 15 15 G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 347411 X 40483069 40483069 46 ALL relapse snv MPC1L missense V90M NM_001195522 10-PASKHT MPC1L MISSENSE SNP Somatic PFAM:PF03650:UPF0041 8 0.291 SQHIGH 14 10 24 0 22 22 G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 347411 X 40483085 40483085 51 ALL relapse snv DDX3X missense R488H NM_001356 10-PASKHT DDX3X MISSENSE SNP Somatic 18 0.949 SQHIGH 25 2 27 0 26 26 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1654 X 41205629 41205629 124 ALL relapse snv SYN1 silent T124T NM_006950 10-PASKHT SYN1 SYNONYMOUS SNP Somatic PFAM:PF02078:Synapsin 8 0.291 SQHIGH 12 4 16 0 15 15 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 6853 X 47478756 47478756 49 ALL relapse snv KLF8 silent S265S NM_007250 10-PASKHT KLF8 SYNONYMOUS,INTRON SNP dbsnp.134:rs146271748 Somatic -2 0.086 SQHIGH 11 10 21 0 14 14 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 11279 X 56296651 56296651 31 ALL relapse snv GDPD2 missense R181H NM_001171192 10-PASKHT GDPD2 MISSENSE SNP dbsnp.132:rs112411662 Somatic 17 0.911 SQHIGH 21 11 32 0 18 18 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 54857 X 69646577 69646577 57 ALL relapse snv NAP1L2 silent A37A NM_021963 10-PASKHT NAP1L2 SYNONYMOUS SNP Somatic 8 0.291 SQHIGH 17 2 19 0 8 8 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4674 X 72434218 72434218 47 ALL relapse snv ZNF711 missense R287W NM_021998 10-PASKHT ZNF711 MISSENSE SNP Somatic PFAM:PF04704:Zfx_Zfy_act 8 0.291 SQHIGH 10 1 11 0 15 15 Cosmic_Gene C T C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7552 X 84520204 84520204 57 ALL relapse snv RPA4 missense V244I NM_013347 10-PASKHT DIAPH2|RPA4 INTRON|MISSENSE SNP Somatic PFAM:PF08784:RPA_C 13 0.549 SQHIGH 15 2 17 0 24 24 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1730|29935 X 96140039 96140039 87 ALL relapse snv PCDH19 missense R413C NM_001105243 10-PASKHT PCDH19 MISSENSE SNP Somatic 13 0.549 SQHIGH 14 0 14 0 17 17 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57526 X 99662359 99662359 84 ALL relapse snv TRMT2B missense R54H NM_024917 10-PASKHT TRMT2B MISSENSE SNP Somatic 18 0.949 SQHIGH 36 1 37 0 17 17 Cosmic_Gene C T C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 79979 X 100297118 100297118 124 ALL relapse snv TEX13A missense R122H NM_031274 10-PASKHT TEX13A|IL1RAPL2 MISSENSE|INTRON SNP Somatic 13 0.549 SQHIGH 12 6 18 0 14 14 Cosmic_Gene C T C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 56157|26280 X 104464717 104464717 41 ALL relapse snv RBMXL3 silent Y913Y NM_001145346 10-PASKHT LRCH2|RBMXL3 INTRON|SYNONYMOUS SNP Somatic 16 0.814 SQHIGH 30 11 41 0 21 21 Cosmic_Gene C T C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 57631|139804 X 114426743 114426743 82 ALL relapse snv DCAF12L1 silent P240P NM_178470 10-PASKHT DCAF12L1 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 4 0.169 SQHIGH 20 16 36 0 27 27 Cosmic_Gene G A G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 139170 X 125685872 125685872 63 ALL relapse snv GPC3 missense A8T NM_001164617 10-PASKHT GPC3 MISSENSE SNP Somatic 8 0.291 SQHIGH 11 0 11 0 9 9 Cosmic_Gene C T C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2719 X 133119455 133119455 52 ALL relapse snv BRS3 silent C170C NM_001727 10-PASKHT BRS3 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 18 0.949 SQHIGH 20 1 21 0 29 29 Cosmic_Gene C T C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 680 X 135572367 135572367 124 ALL relapse snv F9 missense R3C NM_000133 10-PASKHT F9 MISSENSE SNP Somatic 18 0.949 SQHIGH 20 5 25 0 26 26 Cosmic_Gene C T C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2158 X 138612930 138612930 92 ALL relapse snv IL9R missense T103I NM_002186 10-PASKHT IL9R MISSENSE,UTR SNP Somatic 9 0.329 SQHIGH 26 33 59 0 38 38 C C T C C TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 3581 X 155233395 155233395 69 ALL relapse mnv MSH6 missense V1173_F1174>GG NM_000179 10-PASKHT MSH6 MISSENSE Sub Somatic PFAM:PF00485:PRK -5 0.326 SQHIGH 16 39 55 0 64 64 Cosmic_Gene TGTT TGTT GAGG TGTT TGTT TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2956 2 48032128 48032131 60 ALL relapse complex MSH6 frameshift T1175_R1176fs NM_000179 10-PASKHT MSH6 FRAMESHIFT Sub Somatic PFAM:PF00485:PRK -7 0.269 SQHIGH 19 38 57 0 65 65 Cosmic_Gene CTA CTA CC CTA CTA TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 2956 2 48032134 48032136 71 ALL relapse mnv DNM1 splice_region Q283_E6splice_region NM_004408 10-PASKHT DNM1 DONOR Sub Somatic -2 0.488 SQHIGH 23 59 82 1 49 50 Cosmic_Gene CG CG GA CG CG TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 1759 9 130982626 130982627 43 ALL relapse mnv XYLT1 missense G899N NM_022166 10-PASKHT XYLT1 MISSENSE Sub Somatic -3 0.424 SQHIGH 23 34 57 1 48 49 Cosmic_Gene CC CC TT CC CC TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 64131 16 17202736 17202737 62 ALL relapse complex ZNF217 frameshift H1021_L1022fs NM_006526 10-PASKHT ZNF217 FRAMESHIFT Sub Somatic -2 0.488 SQHIGH 29 52 81 0 68 68 Cosmic_Gene ATAAGTG ATAAGTG AGGGGGCC ATAAGTG ATAAGTG TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 7764 20 52188363 52188369 89 ALL diagnosis snv CPA6 silent L152L NM_020361 10-PASLZM CPA6 SYNONYMOUS SNP Somatic -37 0.001 2 23 25 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASLZM-03A-01D TARGET-10-PASLZM-10A-01D 57094 8 68421830 68421830 7 ALL diagnosis snv PAX5 nonsense Q204* NM_016734 10-PASLZM PAX5 NONSENSE SNP Somatic -5 0.077 SQHIGH 6 34 40 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASLZM-03A-01D TARGET-10-PASLZM-10A-01D 5079 9 36966716 36966716 20 ALL diagnosis snv GRM5-AS1 EXON E9_exon NM_001143831 10-PASLZM GRM5 UTR3 SNP Somatic -8 0.059 SQHIGH 4 16 20 0 21 21 Cosmic_Gene A A T A A TARGET-10-PASLZM-03A-01D TARGET-10-PASLZM-10A-01D 2915 11 88240011 88240011 13 ALL diagnosis snv FAM71D splice_region Q53_E3splice_region NM_173526 10-PASLZM FAM71D INTRON SNP Somatic 4 0.189 SQHIGH 9 36 45 0 38 38 Cosmic_Gene C C A C C TARGET-10-PASLZM-03A-01D TARGET-10-PASLZM-10A-01D 161142 14 67665044 67665044 26 ALL diagnosis snv DMXL2 missense D303Y NM_015263 10-PASLZM DMXL2 MISSENSE SNP Somatic 1 0.140 SQHIGH 4 9 13 0 18 18 Cosmic_Gene C C A C C TARGET-10-PASLZM-03A-01D TARGET-10-PASLZM-10A-01D 23312 15 51837803 51837803 16 ALL relapse snv SAMD11 missense R626W NM_152486 10-PASLZM SAMD11 MISSENSE SNP Somatic -4 0.084 SQHIGH 11 18 29 0 11 11 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 148398 1 879363 879363 18 ALL relapse snv TTC34 missense R149W NM_001242672 10-PASLZM TTC34 MISSENSE SNP Somatic 6 0.295 SQHIGH 25 42 67 0 25 25 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100287898 1 2702459 2702459 41 ALL relapse snv NPHP4 splice_region E270_E7splice_region NM_015102 10-PASLZM NPHP4 INTRON SNP Somatic 4 0.217 SQHIGH 13 31 44 0 20 20 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 261734 1 6012753 6012753 24 ALL relapse snv RNF207 silent L173L NM_207396 10-PASLZM RNF207 SYNONYMOUS SNP Somatic 2 0.167 SQHIGH 31 33 64 0 16 16 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 388591 1 6269224 6269224 39 ALL relapse snv PER3 silent I917I NM_016831 10-PASLZM PER3 SYNONYMOUS SNP Somatic -1 0.114 SQHIGH 16 66 82 0 36 36 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 8863 1 7887764 7887764 27 ALL relapse snv CNKSR1 missense R553H NM_006314 10-PASLZM CNKSR1|CATSPER4 MISSENSE,UTR|TSS-UPSTREAM SNP dbsnp.134:rs148602031 Somatic 7 0.335 SQHIGH 21 58 79 0 47 47 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10256|378807 1 26515156 26515156 48 ALL relapse snv MATN1 missense V73M NM_002379 10-PASLZM MATN1|LOC100129196 MISSENSE|UTR SNP Somatic 5 0.248 SQHIGH 22 36 58 1 32 33 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4146|100129196 1 31194476 31194476 40 ALL relapse snv CSMD2 missense P484L NM_052896 10-PASLZM CSMD2 MISSENSE SNP Somatic 6 0.295 SQHIGH 30 64 94 0 61 61 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 114784 1 34254293 34254293 75 ALL relapse snv RLF missense R680C NM_012421 10-PASLZM RLF MISSENSE SNP Somatic -7 0.067 SQHIGH 10 64 74 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6018 1 40702412 40702412 24 ALL relapse snv SLFNL1-AS1 EXON E5_exon NM_144990 10-PASLZM LOC100507178|SLFNL1 UTR|UTR3 SNP Somatic 7 0.335 SQHIGH 21 58 79 1 50 51 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100507178|200172 1 41481658 41481658 40 ALL relapse snv ERI3-IT1 EXON E8_exon NM_024066 10-PASLZM ERI3 INTRON SNP Somatic 7 0.335 SQHIGH 18 52 70 1 39 40 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 79033 1 44691446 44691446 30 ALL relapse snv POMGNT1 silent T151T NM_017739 10-PASLZM POMGNT1 SYNONYMOUS,UTR SNP dbsnp.134:rs146121135 Somatic 6 0.295 SQHIGH 23 50 73 0 40 40 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 55624 1 46661564 46661564 50 ALL relapse snv KNCN silent R11R NM_001097611 10-PASLZM LOC100507423|KNCN INTRON|SYNONYMOUS SNP Somatic 3 0.189 SQHIGH 19 51 70 0 32 32 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100507423|148930 1 47016855 47016855 35 ALL relapse snv TRABD2B missense A155T NM_001194986 10-PASLZM TRABD2B MISSENSE SNP Somatic PFAM:PF01963:TraB 7 0.335 SQHIGH 18 49 67 0 27 27 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 388630 1 48459909 48459909 30 ALL relapse snv KANK4 missense G824R NM_181712 10-PASLZM KANK4 MISSENSE SNP Somatic 1 0.147 SQHIGH 15 40 55 1 27 28 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 163782 1 62728833 62728833 22 ALL relapse snv FAM73A silent I321I NM_198549 10-PASLZM FAM73A SYNONYMOUS SNP Somatic PFAM:PF10265:DUF2217 2 0.167 SQHIGH 7 26 33 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 374986 1 78309059 78309059 23 ALL relapse snv CHIA missense G306R NM_021797 10-PASLZM CHIA MISSENSE SNP Somatic -7 0.067 SQHIGH 12 22 34 0 22 22 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 27159 1 111862897 111862897 30 ALL relapse snv MOV10 missense R147H NM_020963 10-PASLZM MOV10 MISSENSE SNP Somatic 4 0.217 SQHIGH 19 38 57 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4343 1 113232135 113232135 43 ALL relapse snv RSBN1 nonsense R263* NM_018364 10-PASLZM RSBN1 NONSENSE SNP Somatic 7 0.335 SQHIGH 23 60 83 0 42 42 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54665 1 114340575 114340575 46 ALL relapse snv FAM46C missense R24Q NM_017709 10-PASLZM FAM46C MISSENSE SNP Somatic PFAM:PF07984:DUF1693 -5 0.078 SQHIGH 16 81 97 0 37 37 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54855 1 118165561 118165561 24 ALL relapse snv HRNR silent S913S NM_001009931 10-PASLZM HRNR SYNONYMOUS SNP Somatic 3 0.189 SQHIGH 22 47 69 1 28 29 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 388697 1 152191366 152191366 29 ALL relapse snv FLG missense R1656C NM_002016 10-PASLZM FLG MISSENSE SNP Somatic 10 0.474 SQHIGH 49 39 88 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2312 1 152282396 152282396 115 ALL relapse snv PYGO2 missense G102R NM_138300 10-PASLZM PYGO2|PBXIP1 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.128 SQHIGH 18 57 75 0 42 42 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 90780|57326 1 154932172 154932172 38 ALL relapse snv TMEM79 silent P223P NM_032323 10-PASLZM SMG5|TMEM79 TSS-UPSTREAM|SYNONYMOUS,UTR SNP Somatic 1 0.147 SQHIGH 39 97 136 0 66 66 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23381|84283 1 156255686 156255686 76 ALL relapse snv SPTA1 missense R1474W NM_003126 10-PASLZM SPTA1 MISSENSE SNP Somatic 5 0.248 SQHIGH 16 45 61 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6708 1 158613134 158613134 40 ALL relapse snv ARHGAP30 missense V920M NM_001025598 10-PASLZM USF1|ARHGAP30 TSS-UPSTREAM|MISSENSE SNP Somatic 5 0.248 SQHIGH 29 67 96 0 66 66 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 7391|257106 1 161018053 161018053 75 ALL relapse snv GPR52 missense R231H NM_005684 10-PASLZM RABGAP1L|GPR52 INTRON|MISSENSE SNP Somatic PFAM:PF00001:7tm_1 2 0.167 SQHIGH 13 50 63 1 46 47 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9910|9293 1 174417941 174417941 25 ALL relapse snv KDM5B missense M464T NM_006618 10-PASLZM KDM5B MISSENSE SNP Somatic -8 0.060 SQHIGH 8 32 40 0 23 23 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10765 1 202724546 202724546 17 ALL relapse snv PTPN14 silent S720S NM_005401 10-PASLZM PTPN14 SYNONYMOUS SNP Somatic -7 0.067 SQHIGH 11 47 58 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5784 1 214557038 214557038 21 ALL relapse snv OBSCN missense S3343L NM_052843 10-PASLZM OBSCN MISSENSE SNP Somatic PFAM:PF00047:ig -2 0.103 SQHIGH 15 76 91 0 49 49 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 84033 1 228475978 228475978 30 ALL relapse snv TARBP1 missense R1081H NM_005646 10-PASLZM TARBP1 MISSENSE SNP Somatic -4 0.084 SQHIGH 6 17 23 0 18 18 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6894 1 234563331 234563331 16 ALL relapse snv RYR2 missense A4556T NM_001035 10-PASLZM RYR2 MISSENSE SNP Somatic PFAM:PF06459:RR_TM4-6 3 0.189 SQHIGH 8 23 31 1 44 45 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6262 1 237955507 237955507 26 ALL relapse snv TSSC1 silent T290T NM_003310 10-PASLZM TSSC1 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 -6 0.072 SQHIGH 10 31 41 0 16 16 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 7260 2 3196304 3196304 16 ALL relapse snv CAD missense R196H NM_004341 10-PASLZM CAD MISSENSE SNP dbsnp.134:rs144305066 Somatic -5 0.078 SQHIGH 9 64 73 1 41 42 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 790 2 27445478 27445478 12 ALL relapse snv RASGRP3 missense S194L NM_001139488 10-PASLZM RASGRP3 MISSENSE SNP Somatic -2 0.103 SQHIGH 10 41 51 0 71 71 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 25780 2 33749010 33749010 40 ALL relapse snv PSME4 silent Q1108Q NM_014614 10-PASLZM PSME4 SYNONYMOUS SNP Somatic 7 0.335 SQHIGH 23 52 75 0 64 64 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23198 2 54127116 54127116 70 ALL relapse snv SLC1A4 missense E256K NM_003038 10-PASLZM SLC1A4 MISSENSE SNP Somatic PFAM:PF00375:SDF -1 0.114 SQHIGH 35 72 107 3 66 69 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6509 2 65237863 65237863 57 ALL relapse snv GKN1 missense R157H NM_019617 10-PASLZM GKN1 MISSENSE SNP Somatic PFAM:PF04089:BRICHOS 0 0.128 SQHIGH 21 81 102 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56287 2 69207157 69207157 46 ALL relapse snv LOXL3 silent H469H NM_032603 10-PASLZM LOXL3 SYNONYMOUS SNP Somatic PFAM:PF00530:SRCR 5 0.248 SQHIGH 15 57 72 1 48 49 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 84695 2 74762724 74762724 28 ALL relapse snv DNAH6 nonsense R1822* NM_001370 10-PASLZM DNAH6 NONSENSE SNP Somatic -15 0.032 7 52 59 0 62 62 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1768 2 84880828 84880828 23 ALL relapse snv DNAH6 missense K3211N NM_001370 10-PASLZM DNAH6 MISSENSE SNP Somatic PFAM:PF12781:AAA_9 -8 0.060 SQHIGH 20 70 90 0 44 44 Cosmic_Gene A A C A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1768 2 84945349 84945349 38 ALL relapse snv SNRNP200 silent D622D NM_014014 10-PASLZM SNRNP200 SYNONYMOUS SNP Somatic 3 0.189 SQHIGH 14 51 65 1 46 47 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23020 2 96959224 96959224 27 ALL relapse snv CNNM4 missense R230C NM_020184 10-PASLZM CNNM4 MISSENSE SNP dbsnp.134:rs147976284 Somatic PFAM:PF01595:DUF21 3 0.189 SQHIGH 27 55 82 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 26504 2 97427424 97427424 62 ALL relapse snv ST6GAL2 missense G292S NM_032528 10-PASLZM ST6GAL2 MISSENSE SNP Somatic PFAM:PF00777:Glyco_transf_29 5 0.248 SQHIGH 8 19 27 0 17 17 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 84620 2 107459560 107459560 19 ALL relapse snv IL36A missense A129T NM_014440 10-PASLZM IL36A MISSENSE SNP Somatic PFAM:PF00340:IL1 2 0.167 SQHIGH 11 34 45 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 27179 2 113765529 113765529 23 ALL relapse snv PTPN4 silent S429S NM_002830 10-PASLZM PTPN4 SYNONYMOUS SNP Somatic -5 0.078 SQHIGH 10 32 42 1 33 34 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5775 2 120692466 120692466 20 ALL relapse snv TFCP2L1 silent I429I NM_014553 10-PASLZM TFCP2L1 SYNONYMOUS SNP Somatic 7 0.335 SQHIGH 21 52 73 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 29842 2 121989456 121989456 40 ALL relapse snv CYTIP missense G311R NM_004288 10-PASLZM CYTIP MISSENSE SNP Somatic 0 0.128 SQHIGH 8 30 38 0 14 14 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9595 2 158272338 158272338 12 ALL relapse snv UPP2 missense D283N NM_173355 10-PASLZM UPP2 MISSENSE SNP Somatic PFAM:PF01048:PNP_UDP_1 3 0.189 SQHIGH 12 42 54 0 41 41 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 151531 2 158991295 158991295 32 ALL relapse snv IFIH1 missense A733V NM_022168 10-PASLZM IFIH1 MISSENSE SNP Somatic 6 0.295 SQHIGH 10 28 38 1 18 19 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 64135 2 163133303 163133303 13 ALL relapse snv XIRP2 missense G2809R NM_152381 10-PASLZM XIRP2 INTRON,MISSENSE SNP Somatic -2 0.103 SQHIGH 14 69 83 1 66 67 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 129446 2 168106327 168106327 29 ALL relapse snv COL5A2 missense R128H NM_000393 10-PASLZM COL5A2 MISSENSE SNP Somatic 15 0.809 SQHIGH 10 19 29 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1290 2 189963472 189963472 31 ALL relapse snv STAT1 missense F614L NM_007315 10-PASLZM STAT1 MISSENSE SNP Somatic 2 0.167 SQHIGH 11 46 57 0 38 38 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6772 2 191843615 191843615 26 ALL relapse snv STAT1 missense R586Q NM_007315 10-PASLZM STAT1 MISSENSE SNP dbsnp.134:rs144788879 Somatic -19 0.020 18 32 50 1 29 30 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6772 2 191843698 191843698 33 ALL relapse snv PTPRN nonsense R88* NM_002846 10-PASLZM PTPRN UTR5,NONSENSE SNP Somatic 6 0.295 SQHIGH 20 40 60 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5798 2 220172184 220172184 51 ALL relapse snv STK11IP missense R639C NM_052902 10-PASLZM STK11IP MISSENSE SNP Somatic -1 0.114 SQHIGH 13 48 61 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 114790 2 220473891 220473891 25 ALL relapse snv COL4A4 missense A1384V NM_000092 10-PASLZM COL4A4 MISSENSE SNP Somatic 6 0.295 SQHIGH 10 22 32 0 29 29 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1286 2 227886829 227886829 31 ALL relapse snv SP110 silent C549C NM_004509 10-PASLZM SP110 SYNONYMOUS SNP dbsnp.132:rs116626378 Somatic 1 0.147 SQHIGH 11 43 54 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3431 2 231037619 231037619 24 ALL relapse snv ATG16L1 missense T183N NM_030803 10-PASLZM ATG16L1 INTRON,MISSENSE SNP Somatic PFAM:PF08614:ATG16 4 0.217 SQHIGH 28 61 89 0 48 48 C C A C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 55054 2 234173696 234173696 60 ALL relapse snv COL6A3 silent D1554D NM_004369 10-PASLZM COL6A3 SYNONYMOUS SNP Somatic 8 0.376 SQHIGH 28 24 52 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1293 2 238277444 238277444 89 ALL relapse snv SCLY missense A275T NM_016510 10-PASLZM UBE2F-SCLY|SCLY UTR|MISSENSE SNP Somatic PFAM:PF03841:SelA 5 0.248 SQHIGH 12 37 49 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100533179|51540 2 238991910 238991910 30 ALL relapse snv TRAF3IP1 missense R126Q NM_015650 10-PASLZM TRAF3IP1 MISSENSE SNP Somatic PFAM:PF10243:MIP-T3 -31 0.004 5 47 52 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 26146 2 239237349 239237349 11 ALL relapse snv HDAC4 splice_region K113_E4splice_region NM_006037 10-PASLZM HDAC4 INTRON SNP Somatic 0 0.128 SQHIGH 12 52 64 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9759 2 240111522 240111522 35 ALL relapse snv VGLL4 missense R104Q NM_001128219 10-PASLZM LOC100133039|VGLL4 TSS-UPSTREAM|MISSENSE SNP Somatic 2 0.167 SQHIGH 14 19 33 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100133039|9686 3 11606455 11606455 36 ALL relapse snv NEK10 missense K622R NM_199347 10-PASLZM NEK10 MISSENSE SNP Somatic PFAM:PF03109:ABC1 6 0.295 SQHIGH 16 38 54 0 39 39 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 152110 3 27326377 27326377 43 ALL relapse snv NEK10 missense P611L NM_199347 10-PASLZM NEK10 MISSENSE SNP Somatic PFAM:PF03109:ABC1 9 0.423 SQHIGH 11 31 42 1 34 35 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 152110 3 27326410 27326410 24 ALL relapse snv CLASP2 missense A968V NM_015097 10-PASLZM CLASP2 MISSENSE SNP Somatic 6 0.295 SQHIGH 14 19 33 0 17 17 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23122 3 33602354 33602354 31 ALL relapse snv ZNF445 silent P675P NM_181489 10-PASLZM ZNF445 SYNONYMOUS SNP dbsnp.134:rs138400939 Somatic -19 0.020 8 60 68 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 353274 3 44489138 44489138 20 ALL relapse snv ZNF660 silent T73T NM_173658 10-PASLZM ZNF660 SYNONYMOUS SNP Somatic 4 0.217 SQHIGH 24 78 102 0 63 63 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 285349 3 44635904 44635904 55 ALL relapse snv CDCP1 missense V171M NM_022842 10-PASLZM CDCP1 MISSENSE SNP Somatic -2 0.103 SQHIGH 17 74 91 0 70 70 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 64866 3 45153719 45153719 45 ALL relapse snv ARIH2 missense A464T NM_006321 10-PASLZM ARIH2 MISSENSE SNP Somatic -7 0.067 SQHIGH 9 44 53 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10425 3 49020392 49020392 25 ALL relapse snv ITIH3 missense D247G NM_002217 10-PASLZM ITIH3 MISSENSE SNP Somatic 1 0.147 SQHIGH 31 113 144 0 64 64 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3699 3 52833058 52833058 54 ALL relapse snv PRKCD missense R224H NM_006254 10-PASLZM PRKCD MISSENSE SNP Somatic 3 0.189 SQHIGH 30 55 85 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5580 3 53217481 53217481 65 ALL relapse snv PDZRN3 silent T360T NM_015009 10-PASLZM PDZRN3 SYNONYMOUS SNP Somatic 8 0.376 SQHIGH 22 50 72 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23024 3 73453385 73453385 61 ALL relapse snv OR5K4 silent Y252Y NM_001005517 10-PASLZM OR5K4 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 15 0.809 SQHIGH 13 22 35 0 24 24 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 403278 3 98073453 98073453 34 ALL relapse snv BOC silent P1037P NM_033254 10-PASLZM BOC SYNONYMOUS SNP dbsnp.134:rs144450810 Somatic 2 0.167 SQHIGH 14 49 63 1 50 51 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 91653 3 113004366 113004366 30 ALL relapse snv ZBTB20 silent P516P NM_001164342 10-PASLZM ZBTB20-AS1|ZBTB20 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -3 0.092 SQHIGH 11 47 58 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100131117|26137 3 114069377 114069377 23 ALL relapse snv ZBTB20 missense R312H NM_001164342 10-PASLZM ZBTB20-AS1|ZBTB20 TSS-UPSTREAM|MISSENSE SNP Somatic -12 0.044 10 32 42 1 11 12 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100131117|26137 3 114069990 114069990 6 ALL relapse snv ZBTB20 missense A273V NM_001164342 10-PASLZM ZBTB20-AS1|ZBTB20 TSS-UPSTREAM|MISSENSE SNP Somatic -20 0.017 5 21 26 0 15 15 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100131117|26137 3 114070107 114070107 11 ALL relapse snv ACAD9 missense S386G NM_014049 10-PASLZM ACAD9 MISSENSE,UTR SNP Somatic 7 0.335 SQHIGH 21 53 74 0 50 50 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 28976 3 128624970 128624970 53 ALL relapse snv PLXND1 silent C1222C NM_015103 10-PASLZM PLXND1 SYNONYMOUS SNP Somatic 2 0.167 SQHIGH 22 76 98 0 47 47 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23129 3 129289713 129289713 41 ALL relapse snv HPS3 missense R234Q NM_032383 10-PASLZM HPS3 MISSENSE SNP Somatic -1 0.114 SQHIGH 11 59 70 1 63 64 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 84343 3 148858274 148858274 25 ALL relapse snv MED12L silent A1368A NM_053002 10-PASLZM P2RY12|MED12L INTRON|SYNONYMOUS SNP Somatic -8 0.060 SQHIGH 6 26 32 0 28 28 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 64805|116931 3 151094859 151094859 17 ALL relapse snv OTOL1 silent P169P NM_001080440 10-PASLZM OTOL1 SYNONYMOUS SNP Somatic PFAM:PF01391:Collagen -3 0.092 SQHIGH 11 36 47 0 30 30 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 131149 3 161220147 161220147 26 ALL relapse snv EIF4G1 missense R675Q NM_182917 10-PASLZM EIF4G1|SNORD66 MISSENSE|TSS-UPSTREAM SNP Somatic 3 0.189 SQHIGH 15 53 68 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1981|692107 3 184040965 184040965 40 ALL relapse snv MAP3K13 missense K924E NM_004721 10-PASLZM MAP3K13 MISSENSE SNP Somatic -2 0.103 SQHIGH 11 49 60 1 53 54 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9175 3 185198288 185198288 24 ALL relapse snv PCGF3 missense A13T NM_006315 10-PASLZM PCGF3 MISSENSE SNP Somatic -5 0.078 SQHIGH 11 62 73 0 37 37 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10336 4 727506 727506 21 ALL relapse snv LETM1 missense K732E NM_012318 10-PASLZM LETM1 MISSENSE SNP Somatic 11 0.535 SQHIGH 26 40 66 0 32 32 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3954 4 1816177 1816177 54 ALL relapse snv WHSC1 missense T1150A NM_133330 10-PASLZM WHSC1 MISSENSE SNP Somatic PFAM:PF00856:SET 6 0.295 SQHIGH 19 33 52 0 27 27 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 7468 4 1976665 1976665 41 ALL relapse snv HS3ST1 missense A122V NM_005114 10-PASLZM HS3ST1 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 3 0.189 SQHIGH 16 40 56 0 20 20 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9957 4 11401265 11401265 24 ALL relapse snv SLC10A4 silent Y312Y NM_152679 10-PASLZM ZAR1|SLC10A4 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 6 0.295 SQHIGH 11 28 39 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 326340|201780 4 48490578 48490578 30 ALL relapse snv NMU missense S63L NM_006681 10-PASLZM NMU MISSENSE SNP Somatic 1 0.147 SQHIGH 7 31 38 0 29 29 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10874 4 56482536 56482536 18 ALL relapse snv CEP135 missense R790C NM_025009 10-PASLZM CEP135 MISSENSE SNP dbsnp.134:rs138305619 Somatic 14 0.725 SQHIGH 9 18 27 0 23 23 COSMIC:mut:108525 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9662 4 56875932 56875932 27 ALL relapse snv MUC7 splice S18S NM_001145006 10-PASLZM MUC7 SYNONYMOUS SNP Somatic -1 0.114 SQHIGH 8 38 46 0 25 25 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4589 4 71339792 71339792 16 ALL relapse snv FRAS1 missense R292W NM_025074 10-PASLZM FRAS1 MISSENSE SNP Somatic PFAM:PF00093:VWC -8 0.060 SQHIGH 10 66 76 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 80144 4 79188479 79188479 19 ALL relapse snv GK2 missense A33V NM_033214 10-PASLZM GK2 MISSENSE SNP dbsnp.134:rs140376639 Somatic -5 0.078 SQHIGH 9 70 79 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2712 4 80329257 80329257 18 ALL relapse snv FGF2 nonsense R239* NM_002006 10-PASLZM FGF2 NONSENSE SNP Somatic 3 0.189 SQHIGH 6 24 30 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2247 4 123813399 123813399 15 ALL relapse snv ZNF827 missense G789R NM_178835 10-PASLZM ZNF827 MISSENSE SNP Somatic 9 0.423 SQHIGH 10 23 33 0 21 21 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 152485 4 146744592 146744592 24 ALL relapse snv DCHS2 missense R2855H NM_017639 10-PASLZM DCHS2 MISSENSE SNP Somatic 6 0.295 SQHIGH 17 44 61 0 62 62 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54798 4 155155875 155155875 57 ALL relapse snv GUCY1B3 silent H105H NM_000857 10-PASLZM GUCY1B3 SYNONYMOUS SNP Somatic PFAM:PF07700:HNOB 4 0.217 SQHIGH 10 28 38 0 27 27 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2983 4 156710883 156710883 26 ALL relapse snv FNIP2 missense R467H NM_020840 10-PASLZM FNIP2 MISSENSE SNP Somatic 8 0.376 SQHIGH 18 59 77 0 63 63 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 57600 4 159782863 159782863 51 ALL relapse snv SH3RF1 missense T94A NM_020870 10-PASLZM SH3RF1 MISSENSE SNP Somatic -6 0.072 SQHIGH 9 49 58 0 40 40 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 57630 4 170190084 170190084 22 ALL relapse snv ENPP6 missense R270H NM_153343 10-PASLZM ENPP6 MISSENSE SNP Somatic PFAM:PF00884:Sulfatase 7 0.335 SQHIGH 23 61 84 1 55 56 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 133121 4 185038055 185038055 46 ALL relapse snv ADCY2 silent P308P NM_020546 10-PASLZM ADCY2 SYNONYMOUS SNP Somatic -7 0.067 SQHIGH 6 32 38 0 20 20 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 108 5 7695919 7695919 12 ALL relapse snv CDH18 missense R688Q NM_004934 10-PASLZM CDH18 UTR3,MISSENSE SNP dbsnp.134:rs140353037 Somatic PFAM:PF01049:Cadherin_C 4 0.217 SQHIGH 14 44 58 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1016 5 19473645 19473645 39 ALL relapse snv CDH6 silent R707R NM_004932 10-PASLZM CDH6 SYNONYMOUS SNP Somatic PFAM:PF01049:Cadherin_C 5 0.248 SQHIGH 23 61 84 0 65 65 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1004 5 31323163 31323163 64 ALL relapse snv DROSHA missense R871C NM_013235 10-PASLZM DROSHA MISSENSE SNP Somatic -13 0.040 7 59 66 0 31 31 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 29102 5 31451711 31451711 12 ALL relapse snv ZFR missense R1024C NM_016107 10-PASLZM ZFR MISSENSE SNP Somatic PFAM:PF07528:DZF -8 0.060 SQHIGH 9 42 51 0 36 36 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 51663 5 32356021 32356021 22 ALL relapse snv LIFR missense R860Q NM_001127671 10-PASLZM LIFR MISSENSE SNP Somatic 1 0.147 SQHIGH 12 7 19 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3977 5 38484889 38484889 50 ALL relapse snv MARVELD2 missense R367G NM_001038603 10-PASLZM MARVELD2 MISSENSE SNP Somatic 3 0.189 SQHIGH 17 47 64 0 66 66 A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 153562 5 68716311 68716311 58 ALL relapse snv MARVELD2 missense V438M NM_001038603 10-PASLZM MARVELD2 MISSENSE SNP dbsnp.134:rs149971714 Somatic 3 0.189 SQHIGH 13 50 63 0 41 41 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 153562 5 68728483 68728483 31 ALL relapse snv ERAP2 missense A403T NM_022350 10-PASLZM ERAP2 MISSENSE SNP Somatic 6 0.295 SQHIGH 16 37 53 0 38 38 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 64167 5 96231031 96231031 42 ALL relapse snv SLC27A6 silent T364T NM_014031 10-PASLZM SLC27A6 SYNONYMOUS SNP Somatic -3 0.092 SQHIGH 6 28 34 0 25 25 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 28965 5 128351700 128351700 15 ALL relapse snv PCDHAC1 missense R799Q NM_018898 10-PASLZM PCDHA4|PCDHA11|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHAC1|PCDHA7|PCDHA10|PCDHA13|PCDHA12|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic -6 0.072 SQHIGH 9 37 46 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56144|56138|56147|9752|56143|56140|56142|56135|56141|56139|56136|56137|56145|56146 5 140308873 140308873 23 ALL relapse snv PCDHAC2 missense V358M NM_018899 10-PASLZM PCDHA4|PCDHA11|PCDHAC2|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHAC1|PCDHA7|PCDHA10|PCDHA13|PCDHA12|PCDHA3|PCDHA2 INTRON|INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 7 0.335 SQHIGH 22 63 85 0 47 47 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56144|56138|56134|56147|9752|56143|56140|56142|56135|56141|56139|56136|56137|56145|56146 5 140347423 140347423 47 ALL relapse snv PCDHB7 missense R229C NM_018940 10-PASLZM PCDHB7|PCDHB8 MISSENSE|TSS-UPSTREAM SNP Somatic 4 0.217 SQHIGH 23 63 86 1 39 40 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56129|56128 5 140553101 140553101 33 ALL relapse snv PCDHGA5 silent T511T NM_018918 10-PASLZM PCDHGA3|PCDHGB3|PCDHGA4|PCDHGB1|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGB2 INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|INTRON SNP Somatic 5 0.248 SQHIGH 18 66 84 0 39 39 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56112|56102|56111|56104|56113|56110|56114|56103 5 140745430 140745430 33 ALL relapse snv PCDHGA6 missense V45I NM_018919 10-PASLZM PCDHGA3|PCDHGB3|PCDHGA4|PCDHGB1|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON SNP Somatic -5 0.078 SQHIGH 13 64 77 0 61 61 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56112|56102|56111|56104|56113|56110|56114|56109|56103 5 140753783 140753783 35 ALL relapse snv PCDHGB5 missense A505T NM_018925 10-PASLZM PCDHGA8|PCDHGA3|PCDHGB3|PCDHGB5|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 INTRON|INTRON|INTRON|MISSENSE|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic -8 0.060 SQHIGH 17 59 76 0 27 27 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9708|56112|56102|56101|56111|56107|56104|56108|8641|56113|56110|56114|56109|56103 5 140779207 140779207 25 ALL relapse snv GRIA1 missense V353M NM_000827 10-PASLZM GRIA1 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor 6 0.295 SQHIGH 28 45 73 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2890 5 153065812 153065812 76 ALL relapse snv CPEB4 silent Y4Y NM_030627 10-PASLZM CPEB4 SYNONYMOUS SNP Somatic -5 0.078 SQHIGH 13 76 89 0 42 42 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 80315 5 173316748 173316748 23 ALL relapse snv NEDD9 missense R491Q NM_006403 10-PASLZM NEDD9 MISSENSE SNP Somatic PFAM:PF08824:Serine_rich -7 0.067 SQHIGH 13 37 50 1 36 37 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4739 6 11190630 11190630 26 ALL relapse snv BRPF3 missense Y244C NM_015695 10-PASLZM BRPF3 MISSENSE SNP Somatic 6 0.295 SQHIGH 12 35 47 1 39 40 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 27154 6 36168830 36168830 27 ALL relapse snv RNF8 splice E412D NM_003958 10-PASLZM RNF8 MISSENSE SNP Somatic 1 0.147 SQHIGH 27 85 112 0 63 63 Cosmic_Gene G G T G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9025 6 37344809 37344809 58 ALL relapse snv DNAH8 nonsense R2760* NM_001206927 10-PASLZM DNAH8 NONSENSE SNP Somatic PFAM:PF00485:PRK PFAM:PF07728:AAA_5 6 0.295 SQHIGH 14 45 59 0 34 34 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1769 6 38854585 38854585 30 ALL relapse snv UNC5CL missense R266C NM_173561 10-PASLZM UNC5CL MISSENSE SNP Somatic 2 0.167 SQHIGH 33 88 121 0 57 57 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 222643 6 41000776 41000776 62 ALL relapse snv TREM1 missense D127N NM_018643 10-PASLZM TREM1 MISSENSE SNP Somatic 6 0.295 SQHIGH 19 60 79 0 58 58 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54210 6 41250160 41250160 50 ALL relapse snv GPR116 missense R1050H NM_015234 10-PASLZM GPR116 MISSENSE SNP Somatic PFAM:PF00002:7tm_2 8 0.376 SQHIGH 25 52 77 0 54 55 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 221395 6 46826491 46826491 66 ALL relapse snv HCRTR2 missense T208M NM_001526 10-PASLZM HCRTR2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -3 0.092 SQHIGH 10 27 37 0 22 22 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3062 6 55120154 55120154 23 ALL relapse snv FHL5 silent C252C NM_020482 10-PASLZM FHL5 SYNONYMOUS SNP Somatic 3 0.189 SQHIGH 12 48 60 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9457 6 97063549 97063549 32 ALL relapse snv KLHL32 silent T184T NM_052904 10-PASLZM KLHL32 SYNONYMOUS SNP Somatic PFAM:PF07707:BACK 14 0.725 SQHIGH 40 30 70 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 114792 6 97533142 97533142 88 ALL relapse snv SYNE1 missense R2380C NM_182961 10-PASLZM SYNE1 MISSENSE SNP Somatic 5 0.248 SQHIGH 15 35 50 0 34 34 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23345 6 152720850 152720850 38 ALL relapse snv TULP4 missense T99M NM_020245 10-PASLZM TULP4 MISSENSE SNP Somatic PFAM:PF00400:WD40 5 0.248 SQHIGH 26 53 79 0 60 60 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56995 6 158834140 158834140 73 ALL relapse snv FBXL18 missense L282P NM_024963 10-PASLZM FBXL18 MISSENSE SNP Somatic 6 0.295 SQHIGH 6 16 22 0 21 21 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 80028 7 5541055 5541055 19 ALL relapse snv KDELR2 missense R159H NM_006854 10-PASLZM KDELR2 INTRON,MISSENSE SNP Somatic PFAM:PF00810:ER_lumen_recept 19 0.983 SQHIGH 19 17 36 0 55 55 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 11014 7 6505830 6505830 93 ALL relapse snv EPDR1 silent T189T NM_017549 10-PASLZM EPDR1 SYNONYMOUS SNP Somatic PFAM:PF00811:Ependymin 6 0.295 SQHIGH 19 38 57 1 57 58 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54749 7 37989890 37989890 55 ALL relapse snv HECW1 silent P961P NM_015052 10-PASLZM HECW1 SYNONYMOUS SNP Somatic 0 0.128 SQHIGH 9 24 33 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23072 7 43506137 43506137 38 ALL relapse snv SPDYE1 missense K110E NM_175064 10-PASLZM SPDYE1|POLR2J4 MISSENSE|INTRON SNP dbsnp.108:rs4049520,dbsnp.134:rs146396497,dbsnp.125:rs28584075 Somatic -8 0.060 SQHIGH 12 22 34 0 53 53 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 285955|84820 7 44042257 44042257 55 ALL relapse snv DTX2 silent S127S NM_020892 10-PASLZM DTX2 SYNONYMOUS SNP Somatic PFAM:PF02825:WWE -20 0.017 16 93 109 1 44 45 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 113878 7 76111937 76111937 18 ALL relapse snv COL1A2 missense R906C NM_000089 10-PASLZM LOC100506027|COL1A2 INTRON|MISSENSE SNP Somatic -3 0.092 SQHIGH 11 55 66 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100506027|1278 7 94054471 94054471 21 ALL relapse snv KPNA7 splice A67A NM_001145715 10-PASLZM KPNA7 SYNONYMOUS SNP Somatic PFAM:PF01749:IBB -3 0.092 SQHIGH 12 72 84 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 402569 7 98800729 98800729 20 ALL relapse snv LAMB1 silent S1666S NM_002291 10-PASLZM LAMB1 SYNONYMOUS SNP dbsnp.134:rs147490680 Somatic PFAM:PF02996:Prefoldin PFAM:PF05701:DUF827 -21 0.015 6 49 55 0 23 23 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3912 7 107566694 107566694 9 ALL relapse snv LAMB1 splice_region K334_E9splice_region NM_002291 10-PASLZM LAMB1 INTRON SNP Somatic -2 0.103 SQHIGH 12 73 85 0 37 37 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3912 7 107618482 107618482 20 ALL relapse snv FLNC missense R1167H NM_001458 10-PASLZM FLNC MISSENSE SNP Somatic PFAM:PF00630:Filamin 1 0.147 SQHIGH 29 105 134 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2318 7 128485019 128485019 32 ALL relapse snv FLNC silent C2369C NM_001458 10-PASLZM FLNC SYNONYMOUS SNP Somatic PFAM:PF00630:Filamin -5 0.078 SQHIGH 18 82 100 1 41 42 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2318 7 128494938 128494938 21 ALL relapse snv STRA8 missense A179T NM_182489 10-PASLZM STRA8 MISSENSE SNP Somatic 0 0.128 SQHIGH 21 87 108 0 39 39 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 346673 7 134931257 134931257 31 ALL relapse snv ZNF467 missense R176Q NM_207336 10-PASLZM ZNF467 MISSENSE SNP Somatic -3 0.092 SQHIGH 17 47 64 1 24 26 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 168544 7 149463064 149463064 19 ALL relapse snv ZNF467 nonsense R176* NM_207336 10-PASLZM ZNF467 NONSENSE SNP Somatic 3 0.189 SQHIGH 11 56 67 0 29 30 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 168544 7 149463065 149463065 18 ALL relapse snv REPIN1 missense R36H NM_013400 10-PASLZM REPIN1 MISSENSE SNP Somatic 1 0.147 SQHIGH 16 58 74 0 29 29 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 29803 7 150068437 150068437 25 ALL relapse snv LOC100506585 EXON E12_exon NM_002847 10-PASLZM PTPRN2|LOC100506585 INTRON|UTR SNP Somatic 1 0.147 SQHIGH 17 62 79 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5799|100506585 7 157658071 157658071 26 ALL relapse snv PINX1 missense R123H NM_017884 10-PASLZM PINX1|MIR1322 MISSENSE|TSS-UPSTREAM SNP Somatic 10 0.474 SQHIGH 15 28 43 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54984|100302166 8 10683688 10683688 46 ALL relapse snv MTMR7 silent T137T NM_004686 10-PASLZM MTMR7 SYNONYMOUS SNP dbsnp.134:rs140578144 Somatic 7 0.335 SQHIGH 21 54 75 0 58 58 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9108 8 17218683 17218683 58 ALL relapse snv NAT1 missense D122N NM_001160170 10-PASLZM NAT1 MISSENSE SNP Somatic PFAM:PF00797:Acetyltransf_2 -7 0.067 SQHIGH 10 72 82 0 73 73 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9 8 18079920 18079920 29 ALL relapse snv KIF13B silent S1336S NM_015254 10-PASLZM KIF13B SYNONYMOUS SNP Somatic -2 0.103 SQHIGH 15 26 41 1 38 39 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23303 8 28967510 28967510 40 ALL relapse snv RP1 missense T4A NM_006269 10-PASLZM RP1 MISSENSE SNP Somatic -2 0.103 SQHIGH 8 42 50 0 38 38 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6101 8 55533536 55533536 21 ALL relapse snv SBF1P1 EXON E2_exon NM_052898 10-PASLZM SBF1P1|XKR4 UTR|INTRON SNP Somatic 6 0.295 SQHIGH 17 50 67 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100133234|114786 8 56365313 56365313 41 ALL relapse snv CPA6 silent L152L NM_020361 10-PASLZM CPA6 SYNONYMOUS SNP Somatic 6 0.295 SQHIGH 9 25 34 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 57094 8 68421830 68421830 27 ALL relapse snv PSKH2 silent A104A NM_033126 10-PASLZM PSKH2 SYNONYMOUS SNP Somatic -6 0.072 SQHIGH 6 34 40 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 85481 8 87076734 87076734 16 ALL relapse snv TSPYL5 silent S113S NM_033512 10-PASLZM TSPYL5 SYNONYMOUS SNP Somatic 3 0.189 SQHIGH 11 31 42 0 15 15 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 85453 8 98289734 98289734 16 ALL relapse snv CSMD3 missense R3391H NM_198123 10-PASLZM CSMD3 MISSENSE SNP Somatic 6 0.295 SQHIGH 7 9 16 0 21 21 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 114788 8 113259299 113259299 30 ALL relapse snv RAD21 missense S56P NM_006265 10-PASLZM RAD21 MISSENSE SNP Somatic PFAM:PF04825:Rad21_Rec8_N 13 0.654 SQHIGH 41 40 81 0 50 50 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5885 8 117875477 117875477 109 ALL relapse snv EPPK1 silent T314T NM_031308 10-PASLZM EPPK1 SYNONYMOUS SNP Somatic 1 0.147 SQHIGH 17 36 53 0 27 27 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 83481 8 144946480 144946480 35 ALL relapse snv MPDZ missense V615A NM_003829 10-PASLZM MPDZ MISSENSE SNP Somatic -8 0.060 SQHIGH 5 33 38 0 28 28 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 8777 9 13192254 13192254 13 ALL relapse snv KLF9 silent P39P NM_001206 10-PASLZM KLF9 SYNONYMOUS SNP Somatic -6 0.072 SQHIGH 5 17 22 0 16 16 A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 687 9 73028163 73028163 13 ALL relapse snv C9orf156 missense V266M NM_016481 10-PASLZM C9orf156 MISSENSE SNP dbsnp.134:rs150271508 Somatic 4 0.217 SQHIGH 26 72 98 0 41 41 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 51531 9 100672512 100672512 44 ALL relapse snv ACTL7A silent S202S NM_006687 10-PASLZM ACTL7A SYNONYMOUS SNP Somatic 2 0.167 SQHIGH 19 70 89 1 57 58 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10881 9 111625208 111625208 35 ALL relapse snv DAB2IP silent Y13Y NM_032552 10-PASLZM DAB2IP SYNONYMOUS SNP Somatic 6 0.295 SQHIGH 16 61 77 0 53 53 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 153090 9 124329506 124329506 39 ALL relapse snv NR6A1 missense R66H NM_033334 10-PASLZM NR6A1 MISSENSE SNP Somatic 0 0.128 SQHIGH 29 82 111 2 73 75 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2649 9 127316795 127316795 52 ALL relapse snv PKN3 silent R42R NM_013355 10-PASLZM PKN3 SYNONYMOUS SNP Somatic -4 0.084 SQHIGH 11 42 53 0 34 34 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 29941 9 131467683 131467683 26 ALL relapse snv LCN8 missense R94W NM_178469 10-PASLZM LCN8 MISSENSE SNP dbsnp.134:rs149375049 Somatic PFAM:PF00061:Lipocalin 6 0.295 SQHIGH 28 77 105 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 138307 9 139649915 139649915 49 ALL relapse snv EDF1 missense R63Q NM_003792 10-PASLZM EDF1 MISSENSE SNP Somatic PFAM:PF08523:MBF1 4 0.217 SQHIGH 23 55 78 0 33 33 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 8721 9 139757843 139757843 40 ALL relapse snv RNF208 missense Y175C NM_031297 10-PASLZM RNF208|C9orf169 MISSENSE|TSS-UPSTREAM SNP Somatic 7 0.335 SQHIGH 28 67 95 0 41 41 T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 727800|375791 9 140115141 140115141 50 ALL relapse snv TAF3 missense R196W NM_031923 10-PASLZM TAF3 MISSENSE SNP Somatic 6 0.295 SQHIGH 17 33 50 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 83860 10 8006059 8006059 42 ALL relapse snv SEPHS1 missense A151T NM_012247 10-PASLZM SEPHS1 MISSENSE SNP dbsnp.134:rs149225659 Somatic -5 0.078 SQHIGH 8 40 48 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 22929 10 13375926 13375926 20 ALL relapse snv KIAA1217 missense P327L NM_019590 10-PASLZM KIAA1217 MISSENSE SNP Somatic 5 0.248 SQHIGH 23 62 85 1 64 65 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56243 10 24762290 24762290 52 ALL relapse snv KIAA1217 missense R704C NM_019590 10-PASLZM KIAA1217 MISSENSE SNP Somatic 7 0.335 SQHIGH 20 54 74 0 49 49 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56243 10 24802296 24802296 49 ALL relapse snv SVIL missense G414R NM_021738 10-PASLZM SVIL INTRON,MISSENSE SNP dbsnp.134:rs149688596 Somatic 5 0.248 SQHIGH 22 70 92 0 42 42 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6840 10 29822056 29822056 40 ALL relapse snv PARD3 missense A425T NM_019619 10-PASLZM PARD3 MISSENSE SNP Somatic -2 0.103 SQHIGH 10 39 49 1 28 29 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56288 10 34671594 34671594 15 ALL relapse snv FAM170B silent C96C NM_001164484 10-PASLZM LOC100506733|FAM170B INTRON|SYNONYMOUS SNP Somatic -7 0.067 SQHIGH 8 60 68 0 36 36 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100506733|170370 10 50340222 50340222 15 ALL relapse snv A1CF missense R125C NM_014576 10-PASLZM A1CF MISSENSE SNP Somatic 7 0.335 SQHIGH 13 33 46 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 29974 10 52596065 52596065 40 ALL relapse snv TBATA missense G200S NM_152710 10-PASLZM TBATA MISSENSE SNP Somatic -1 0.114 SQHIGH 9 29 38 0 36 36 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 219793 10 72537001 72537001 28 ALL relapse snv ZSWIM8 silent T1028T NM_015037 10-PASLZM KIAA0913|LOC100507331 SYNONYMOUS|UTR SNP Somatic -2 0.103 SQHIGH 16 77 93 1 55 56 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23053|100507331 10 75556582 75556582 26 ALL relapse snv GRID1 missense G506R NM_017551 10-PASLZM GRID1 MISSENSE SNP Somatic 5 0.248 SQHIGH 23 63 86 0 60 60 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2894 10 87487629 87487629 59 ALL relapse snv MYOF silent S174S NM_013451 10-PASLZM MYOF SYNONYMOUS SNP Somatic -2 0.103 SQHIGH 12 62 74 0 45 45 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 26509 10 95169408 95169408 26 ALL relapse snv SH3PXD2A silent S433S NM_014631 10-PASLZM SH3PXD2A SYNONYMOUS SNP Somatic 6 0.295 SQHIGH 21 69 90 0 55 55 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9644 10 105365600 105365600 48 ALL relapse snv SORCS3 missense A811T NM_014978 10-PASLZM SORCS3 MISSENSE SNP Somatic 3 0.189 SQHIGH 20 78 98 1 69 70 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 22986 10 106974255 106974255 41 ALL relapse snv ADD3 missense T467M NM_016824 10-PASLZM ADD3 MISSENSE SNP Somatic -2 0.103 SQHIGH 12 47 59 0 56 56 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 120 10 111884031 111884031 37 ALL relapse snv AFAP1L2 splice_region A514_E13splice_region NM_001001936 10-PASLZM AFAP1L2 INTRON SNP Somatic 4 0.217 SQHIGH 22 56 78 0 40 40 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 84632 10 116061103 116061103 45 ALL relapse snv SEC23IP silent S309S NM_007190 10-PASLZM SEC23IP SYNONYMOUS,UTR SNP Somatic 4 0.217 SQHIGH 14 46 60 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 11196 10 121663615 121663615 23 ALL relapse snv DMBT1 silent S553S NM_007329 10-PASLZM DMBT1 SYNONYMOUS,INTRON SNP Somatic PFAM:PF00530:SRCR 2 0.167 SQHIGH 34 91 125 0 64 64 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1755 10 124345775 124345775 69 ALL relapse snv PWWP2B missense R462C NM_138499 10-PASLZM PWWP2B MISSENSE SNP Somatic 6 0.295 SQHIGH 17 49 66 0 32 32 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 170394 10 134219388 134219388 33 ALL relapse snv KCNQ1OT1 EXON E10_exon NM_000218 10-PASLZM KCNQ1 INTRON SNP Somatic 3 0.189 SQHIGH 13 51 64 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3784 11 2639442 2639442 34 ALL relapse snv C11orf40 silent T141T NM_144663 10-PASLZM C11orf40 SYNONYMOUS SNP dbsnp.134:rs142861848 Somatic 3 0.189 SQHIGH 24 80 104 0 66 66 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 143501 11 4593410 4593410 56 ALL relapse snv OR51F1 missense R268Q NM_001004752 10-PASLZM OR51F1 MISSENSE SNP Somatic -28 0.007 5 43 48 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 256892 11 4790345 4790345 14 ALL relapse snv OR51F1 missense F253L NM_001004752 10-PASLZM OR51F1 MISSENSE SNP Somatic -10 0.052 SQHIGH 7 40 47 0 36 36 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 256892 11 4790391 4790391 18 ALL relapse snv KCNC1 missense Y235H NM_001112741 10-PASLZM KCNC1 MISSENSE SNP Somatic 7 0.335 SQHIGH 21 59 80 0 53 53 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3746 11 17793344 17793344 52 ALL relapse snv KCNC1 missense R237Q NM_001112741 10-PASLZM KCNC1 MISSENSE SNP Somatic 7 0.335 SQHIGH 21 67 88 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3746 11 17793351 17793351 49 ALL relapse snv OR4S1 missense V197M NM_001004725 10-PASLZM OR4S1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 1 0.147 SQHIGH 12 52 64 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 256148 11 48328363 48328363 33 ALL relapse snv OR5A2 missense V285M NM_001001954 10-PASLZM OR5A2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 3 0.189 SQHIGH 13 42 55 0 35 35 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 219981 11 59189574 59189574 31 ALL relapse snv CCDC88B missense Q957R NM_032251 10-PASLZM CCDC88B MISSENSE SNP Somatic 0 0.128 SQHIGH 11 29 40 0 24 24 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 283234 11 64118639 64118639 25 ALL relapse snv TSGA10IP splice_region A475_E7splice_region NM_152762 10-PASLZM SART1|TSGA10IP TSS-UPSTREAM|ACCEPTOR SNP Somatic 1 0.147 SQHIGH 33 84 117 0 52 52 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9092|254187 11 65726657 65726657 60 ALL relapse snv CATSPER1 silent I474I NM_053054 10-PASLZM CATSPER1 SYNONYMOUS SNP Somatic 3 0.189 SQHIGH 16 61 77 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 117144 11 65790327 65790327 30 ALL relapse snv ARAP1 missense R1057H NM_015242 10-PASLZM ARAP1 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 -10 0.052 SQHIGH 18 69 87 0 48 48 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 116985 11 72404419 72404419 37 ALL relapse snv ARHGEF17 splice_region G1909_E19splice_region NM_014786 10-PASLZM ARHGEF17 DONOR SNP Somatic 1 0.147 SQHIGH 28 88 116 0 51 51 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9828 11 73076613 73076613 49 ALL relapse snv MTNR1B silent S23S NM_005959 10-PASLZM MTNR1B SYNONYMOUS SNP Somatic -2 0.103 SQHIGH 13 30 43 0 17 17 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4544 11 92702960 92702960 22 ALL relapse snv MIR6716 EXON E15_exon NM_015157 10-PASLZM PHLDB1 INTRON SNP Somatic -1 0.114 SQHIGH 13 38 51 0 27 27 T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23187 11 118514739 118514739 27 ALL relapse snv VWA5A silent T204T NM_014622 10-PASLZM VWA5A SYNONYMOUS SNP Somatic 5 0.248 SQHIGH 25 59 84 0 71 71 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4013 11 123989382 123989382 75 ALL relapse snv KCNA5 silent G100G NM_002234 10-PASLZM KCNA5 SYNONYMOUS SNP Somatic -3 0.092 SQHIGH 14 61 75 0 46 46 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3741 12 5153613 5153613 31 ALL relapse snv VWF silent A133A NM_000552 10-PASLZM VWF SYNONYMOUS SNP Somatic PFAM:PF00094:VWD 5 0.248 SQHIGH 23 31 54 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 7450 12 6219673 6219673 78 ALL relapse snv KLRC1 silent A41A NM_002259 10-PASLZM KLRC1 SYNONYMOUS SNP Somatic 3 0.189 SQHIGH 16 60 76 0 34 34 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3821 12 10603633 10603633 28 ALL relapse snv ATF7IP nonsense R625* NM_018179 10-PASLZM ATF7IP NONSENSE SNP Somatic 12 0.593 SQHIGH 11 21 32 0 31 31 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 55729 12 14591145 14591145 37 ALL relapse snv PKP2 missense A324V NM_001005242 10-PASLZM PKP2 MISSENSE SNP Somatic 2 0.167 SQHIGH 17 53 70 2 42 44 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5318 12 33030843 33030843 24 ALL relapse snv FMNL3 splice R202_E6splice NM_175736 10-PASLZM FMNL3 INTRON,MISSENSE SNP Somatic PFAM:PF06371:Drf_GBD 3 0.189 SQHIGH 14 63 77 0 42 42 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 91010 12 50052225 50052225 28 ALL relapse snv SLC4A8 missense W465R NM_001039960 10-PASLZM SLC4A8 MISSENSE SNP Somatic PFAM:PF00955:HCO3_cotransp 0 0.128 SQHIGH 10 48 58 0 37 37 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9498 12 51863441 51863441 23 ALL relapse snv SCN8A silent A413A NM_014191 10-PASLZM SCN8A SYNONYMOUS SNP Somatic 6 0.295 SQHIGH 18 55 73 0 51 51 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6334 12 52099305 52099305 46 ALL relapse snv KRT75 silent T216T NM_004693 10-PASLZM KRT75 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament 5 0.248 SQHIGH 20 47 67 0 48 48 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9119 12 52826887 52826887 53 ALL relapse snv HECTD4 missense E1751G NM_001109662 10-PASLZM HECTD4 MISSENSE SNP Somatic 5 0.248 SQHIGH 25 67 92 0 45 45 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 283450 12 112673379 112673379 49 ALL relapse snv TMEM120B missense H192R NM_001080825 10-PASLZM TMEM120B MISSENSE SNP Somatic PFAM:PF07851:TMPIT 6 0.295 SQHIGH 22 76 98 2 55 57 A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 144404 12 122208836 122208836 31 ALL relapse snv SETD1B missense D1062G NM_015048 10-PASLZM SETD1B MISSENSE SNP Somatic -3 0.092 SQHIGH 18 89 107 0 52 52 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23067 12 122255706 122255706 33 ALL relapse snv TUBA3C missense R221C NM_006001 10-PASLZM TUBA3C MISSENSE SNP Somatic 4 0.217 SQHIGH 23 79 102 1 72 73 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 7278 13 19751462 19751462 48 ALL relapse snv LATS2 silent P281P NM_014572 10-PASLZM LATS2 SYNONYMOUS SNP Somatic -2 0.103 SQHIGH 12 41 53 0 24 24 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 26524 13 21563076 21563076 21 ALL relapse snv SACS-AS1 EXON E1_exon NM_014363 10-PASLZM SACS|SACS-AS1 INTRON|UTR SNP Somatic 5 0.248 SQHIGH 21 68 89 0 61 61 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 26278|100506680 13 23993214 23993214 52 ALL relapse snv KBTBD7 silent S363S NM_032138 10-PASLZM KBTBD7 SYNONYMOUS SNP Somatic -7 0.067 SQHIGH 14 82 97 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 84078 13 41767305 41767305 24 ALL relapse snv FAM124A missense R231W NM_145019 10-PASLZM FAM124A MISSENSE SNP Somatic 5 0.248 SQHIGH 29 77 106 1 56 57 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 220108 13 51826086 51826086 50 ALL relapse snv PCDH8 missense R6C NM_002590 10-PASLZM PCDH8 MISSENSE SNP Somatic 7 0.335 SQHIGH 21 55 76 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5100 13 53422556 53422556 59 ALL relapse snv ATP11A missense I360T NM_015205 10-PASLZM ATP11A MISSENSE SNP Somatic 6 0.295 SQHIGH 25 59 84 0 56 56 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 23250 13 113481063 113481063 63 ALL relapse snv LRRC16B missense A618T NM_138360 10-PASLZM LRRC16B MISSENSE SNP Somatic -2 0.103 SQHIGH 24 101 125 2 53 55 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 90668 14 24528925 24528925 25 ALL relapse snv TBPL2 missense R31W NM_199047 10-PASLZM TBPL2 MISSENSE SNP Somatic 7 0.335 SQHIGH 24 60 84 0 51 51 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 387332 14 55907173 55907173 56 ALL relapse snv GPR135 silent T303T NM_022571 10-PASLZM GPR135 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 5 0.248 SQHIGH 9 19 28 0 14 14 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 64582 14 59931036 59931036 18 ALL relapse snv FAM71D splice_region Q53_E3splice_region NM_173526 10-PASLZM FAM71D INTRON SNP Somatic 6 0.295 SQHIGH 22 28 50 0 38 38 Cosmic_Gene C C A C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 161142 14 67665044 67665044 65 ALL relapse snv SLC8A3 silent T388T NM_033262 10-PASLZM SLC8A3 SYNONYMOUS SNP Somatic 5 0.248 SQHIGH 22 53 75 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6547 14 70633976 70633976 60 ALL relapse snv HHIPL1 missense R363C NM_001127258 10-PASLZM HHIPL1 MISSENSE SNP Somatic 3 0.189 SQHIGH 14 38 52 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 84439 14 100125805 100125805 31 ALL relapse snv RTL1 silent Y447Y NM_001134888 10-PASLZM RTL1|MIR136|MIR432 SYNONYMOUS|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 5 0.248 SQHIGH 31 67 98 0 55 55 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 388015|406927|574451 14 101349785 101349785 69 ALL relapse snv SPTBN5 missense A174T NM_016642 10-PASLZM SPTBN5 MISSENSE SNP Somatic -5 0.078 SQHIGH 11 35 46 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 51332 15 42180265 42180265 25 ALL relapse snv DUOX2 missense G1513R NM_014080 10-PASLZM DUOX2 MISSENSE SNP Somatic PFAM:PF00175:NAD_binding_1 5 0.248 SQHIGH 20 56 76 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 50506 15 45386458 45386458 47 ALL relapse snv TLN2 missense R1675Q NM_015059 10-PASLZM TLN2 MISSENSE SNP Somatic 3 0.189 SQHIGH 19 55 74 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 83660 15 63055824 63055824 54 ALL relapse snv BCL2A1 missense G138R NM_004049 10-PASLZM BCL2A1 MISSENSE SNP Somatic -3 0.092 SQHIGH 12 46 58 0 53 53 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 597 15 80263050 80263050 36 ALL relapse snv IL16 missense R400W NM_001172128 10-PASLZM IL16 MISSENSE SNP Somatic 2 0.167 SQHIGH 16 61 77 0 40 40 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3603 15 81575096 81575096 32 ALL relapse snv GRIN2A missense R1452H NM_001134407 10-PASLZM GRIN2A UTR3,MISSENSE SNP Somatic PFAM:PF10565:NMDAR2_C 5 0.248 SQHIGH 17 72 89 0 38 38 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2903 16 9857046 9857046 28 ALL relapse snv KIAA0430 missense S1383L NM_014647 10-PASLZM KIAA0430 MISSENSE SNP Somatic 15 0.809 SQHIGH 37 31 68 1 53 54 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9665 16 15702182 15702182 107 ALL relapse snv SYT17 silent S94S NM_016524 10-PASLZM SYT17 SYNONYMOUS SNP Somatic 3 0.189 SQHIGH 17 42 59 0 42 42 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 51760 16 19191812 19191812 45 ALL relapse snv GDE1 missense R218W NM_016641 10-PASLZM GDE1 MISSENSE SNP Somatic PFAM:PF03009:GDPD 0 0.128 SQHIGH 14 52 66 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 51573 16 19516399 19516399 29 ALL relapse snv SBK1 missense R173H NM_001024401 10-PASLZM SBK1 MISSENSE SNP Somatic -9 0.056 SQHIGH 5 7 12 0 8 8 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 388228 16 28331485 28331485 13 ALL relapse snv ATXN2L missense S1090G NM_148414 10-PASLZM ATXN2L UTR3,INTRON,MISSENSE SNP Somatic -1 0.114 SQHIGH 10 15 25 0 17 17 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 11273 16 28847775 28847775 27 ALL relapse snv ITGAL silent A21A NM_002209 10-PASLZM ITGAL SYNONYMOUS SNP Somatic 2 0.167 SQHIGH 16 29 45 1 27 28 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3683 16 30485518 30485518 30 ALL relapse snv MARVELD3 silent T302T NM_001017967 10-PASLZM MARVELD3 SYNONYMOUS SNP Somatic 5 0.248 SQHIGH 17 44 61 0 39 39 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 91862 16 71674603 71674603 41 ALL relapse snv CHST6 missense V225M NM_021615 10-PASLZM CHST6 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 -3 0.092 SQHIGH 8 31 39 0 18 18 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4166 16 75513054 75513054 14 ALL relapse snv ZC3H18 missense C224R NM_144604 10-PASLZM ZC3H18 MISSENSE SNP Somatic PFAM:PF00642:zf-CCCH 7 0.335 SQHIGH 21 64 85 1 62 63 Cosmic_Gene T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 124245 16 88653074 88653074 45 ALL relapse snv INPP5K nonsense Q430* NM_016532 10-PASLZM MYO1C|INPP5K TSS-UPSTREAM|NONSENSE SNP Somatic PFAM:PF07888:CALCOCO1 2 0.167 SQHIGH 37 83 120 0 52 52 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4641|51763 17 1399356 1399356 67 ALL relapse snv INPP5K missense V341M NM_016532 10-PASLZM MYO1C|INPP5K TSS-UPSTREAM|MISSENSE SNP dbsnp.134:rs148097008 Somatic 5 0.248 SQHIGH 33 44 77 0 38 38 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4641|51763 17 1400040 1400040 71 ALL relapse snv TRPV3 missense A222T NM_145068 10-PASLZM TRPV3 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 0 0.128 SQHIGH 9 19 28 0 16 16 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 162514 17 3438987 3438987 20 ALL relapse snv DNAH9 missense A3294T NM_001372 10-PASLZM DNAH9 MISSENSE SNP Somatic PFAM:PF12777:MT -2 0.103 SQHIGH 13 58 71 0 62 62 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1770 17 11757692 11757692 38 ALL relapse snv NOS2 splice_region R241_E8splice_region NM_000625 10-PASLZM NOS2 ACCEPTOR SNP Somatic 3 0.189 SQHIGH 22 82 104 0 58 58 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4843 17 26108210 26108210 46 ALL relapse snv SRCIN1 missense S739L NM_025248 10-PASLZM SRCIN1 MISSENSE SNP Somatic 7 0.335 SQHIGH 27 78 105 1 80 81 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 80725 17 36709077 36709077 63 ALL relapse snv ACLY splice G395_E11splice NM_001096 10-PASLZM ACLY MISSENSE SNP Somatic 4 0.217 SQHIGH 24 78 102 1 75 76 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 47 17 40057949 40057949 53 ALL relapse snv ZNF385C silent A204A NM_001242704 10-PASLZM ZNF385C SYNONYMOUS SNP Somatic -1 0.114 SQHIGH 17 50 67 2 56 58 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 201181 17 40180919 40180919 33 ALL relapse snv STAT5B missense G719R NM_012448 10-PASLZM STAT5B MISSENSE SNP Somatic 4 0.217 SQHIGH 19 53 72 0 50 50 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6777 17 40354440 40354440 48 ALL relapse snv HOXB3 missense A415V NM_002146 10-PASLZM HOXB3 MISSENSE SNP Somatic -6 0.072 SQHIGH 15 83 98 0 52 52 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3213 17 46627748 46627748 29 ALL relapse snv FAM117A missense A293V NM_030802 10-PASLZM FAM117A MISSENSE SNP Somatic -2 0.103 SQHIGH 14 71 85 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 81558 17 47794907 47794907 31 ALL relapse snv MRPS23 missense A56V NM_016070 10-PASLZM MRPS23 MISSENSE SNP Somatic 0 0.128 SQHIGH 41 84 125 0 57 57 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 51649 17 55926649 55926649 78 ALL relapse snv LPO missense R465H NM_006151 10-PASLZM LPO MISSENSE,UTR SNP Somatic 2 0.167 SQHIGH 33 56 89 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4025 17 56342210 56342210 82 ALL relapse snv MARCH10 missense S244G NM_152598 10-PASLZM MARCH10 MISSENSE SNP Somatic -1 0.114 SQHIGH 10 44 54 0 33 33 T T C T T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 162333 17 60814499 60814499 22 ALL relapse snv STRADA missense R333W NM_001003787 10-PASLZM STRADA|LIMD2 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF03109:ABC1 -1 0.114 SQHIGH 28 53 81 0 38 38 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 92335|80774 17 61781804 61781804 55 ALL relapse snv FAM20A missense R176W NM_017565 10-PASLZM FAM20A MISSENSE,UTR SNP Somatic -10 0.052 SQHIGH 10 59 69 0 51 51 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54757 17 66551763 66551763 25 ALL relapse snv SGSH missense R346Q NM_000199 10-PASLZM SGSH MISSENSE SNP Somatic 7 0.335 SQHIGH 24 60 84 0 43 43 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6448 17 78184723 78184723 49 ALL relapse snv ANAPC11 missense V11M NM_001002244 10-PASLZM THOC4|ANAPC11 TSS-UPSTREAM|MISSENSE SNP Somatic -6 0.072 SQHIGH 10 30 40 0 27 27 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10189|51529 17 79852384 79852384 25 ALL relapse snv GREB1L silent P1570P NM_001142966 10-PASLZM GREB1L SYNONYMOUS SNP Somatic -4 0.084 SQHIGH 7 35 42 0 33 33 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 80000 18 19088527 19088527 19 ALL relapse snv DSG3 missense R49C NM_001944 10-PASLZM DSG3 MISSENSE SNP Somatic -20 0.017 3 24 27 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1830 18 29037016 29037016 9 ALL relapse snv MOCOS missense R801C NM_017947 10-PASLZM MOCOS MISSENSE SNP Somatic PFAM:PF03473:MOSC -2 0.103 SQHIGH 24 98 122 0 72 72 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 55034 18 33840130 33840130 52 ALL relapse snv MYO5B missense R811Q NM_001080467 10-PASLZM MYO5B MISSENSE SNP Somatic -2 0.103 SQHIGH 12 71 83 0 56 56 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4645 18 47431181 47431181 28 ALL relapse snv SERPINB4 missense E353K NM_002974 10-PASLZM SERPINB4 MISSENSE SNP Somatic 9 0.423 SQHIGH 15 34 49 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6318 18 61305069 61305069 32 ALL relapse snv TSHZ1 missense P426L NM_005786 10-PASLZM TSHZ1 MISSENSE SNP dbsnp.134:rs142270240 Somatic 6 0.295 SQHIGH 19 59 78 0 42 42 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10194 18 72998774 72998774 39 ALL relapse snv TSHZ1 silent A750A NM_005786 10-PASLZM TSHZ1 SYNONYMOUS SNP Somatic -1 0.114 SQHIGH 22 62 84 1 45 46 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10194 18 72999747 72999747 37 ALL relapse snv SALL3 missense V737M NM_171999 10-PASLZM SALL3 MISSENSE SNP dbsnp.134:rs147654064 Somatic -8 0.060 SQHIGH 9 26 35 0 15 15 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 27164 18 76754200 76754200 16 ALL relapse snv RETN missense A36T NM_020415 10-PASLZM RETN MISSENSE SNP Somatic PFAM:PF06954:Resistin 3 0.189 SQHIGH 22 77 99 0 53 53 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 56729 19 7734318 7734318 45 ALL relapse snv CCDC105 silent C293C NM_173482 10-PASLZM CCDC105 SYNONYMOUS SNP Somatic -5 0.078 SQHIGH 14 37 51 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 126402 19 15132169 15132169 27 ALL relapse snv PIK3R2 silent P112P NM_005027 10-PASLZM PIK3R2 SYNONYMOUS SNP dbsnp.134:rs148843363 Somatic 4 0.217 SQHIGH 31 67 98 1 46 47 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5296 19 18271294 18271294 49 ALL relapse snv GMIP missense R350W NM_016573 10-PASLZM GMIP MISSENSE SNP Somatic -7 0.067 SQHIGH 9 31 40 0 15 15 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 51291 19 19748250 19748250 14 ALL relapse snv ZNF101 silent T139T NM_033204 10-PASLZM ZNF101 SYNONYMOUS SNP Somatic -1 0.114 SQHIGH 27 60 87 0 41 41 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 94039 19 19790215 19790215 52 ALL relapse snv ZFP30 missense R514Q NM_014898 10-PASLZM ZFP30 MISSENSE SNP dbsnp.134:rs144294637 Somatic 7 0.335 SQHIGH 21 37 58 0 50 50 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 22835 19 38125901 38125901 66 ALL relapse snv LGALS4 silent S302S NM_006149 10-PASLZM LGALS4 SYNONYMOUS SNP Somatic 3 0.189 SQHIGH 20 75 95 1 65 66 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3960 19 39292470 39292470 40 ALL relapse snv LIPE silent L803L NM_005357 10-PASLZM LIPE SYNONYMOUS SNP dbsnp.98:rs2229615 Somatic 6 0.295 SQHIGH 25 72 97 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3991 19 42909670 42909670 47 ALL relapse snv IRF2BP1 missense L191P NM_015649 10-PASLZM IRF2BP1 MISSENSE SNP Somatic 3 0.189 SQHIGH 14 40 54 0 20 20 A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 26145 19 46388461 46388461 21 ALL relapse snv CA11 missense R306W NM_001217 10-PASLZM CA11|SEC1|DBP MISSENSE|INTRON|TSS-UPSTREAM SNP Somatic -7 0.067 SQHIGH 32 74 106 0 32 32 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 770|653677|1628 19 49142190 49142190 42 ALL relapse snv TRPM4 missense R437Q NM_017636 10-PASLZM TRPM4 MISSENSE SNP dbsnp.134:rs149806315 Somatic -1 0.114 SQHIGH 24 50 74 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54795 19 49685881 49685881 45 ALL relapse snv TBC1D17 splice E376_E10splice NM_024682 10-PASLZM MIR4750|TBC1D17 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00566:TBC 0 0.128 SQHIGH 15 55 70 0 47 47 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 100616314|79735 19 50387002 50387002 36 ALL relapse snv POLD1 missense R352C NM_002691 10-PASLZM POLD1 MISSENSE SNP Somatic -3 0.092 SQHIGH 11 42 53 0 30 30 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 5424 19 50906393 50906393 23 ALL relapse snv ZNF480 silent A39A NM_144684 10-PASLZM ZNF480 SYNONYMOUS SNP Somatic 7 0.335 SQHIGH 17 51 68 1 45 46 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 147657 19 52817450 52817450 33 ALL relapse snv SSTR4 missense A55T NM_001052 10-PASLZM SSTR4 MISSENSE SNP Somatic -9 0.056 SQHIGH 6 27 33 0 18 18 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 6754 20 23016283 23016283 12 ALL relapse snv MCTS2P EXON E4_exon NM_030789 10-PASLZM HM13|PSIMCT-1 INTRON|UTR SNP Somatic -4 0.084 SQHIGH 9 50 59 0 40 40 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 81502|100101490 20 30135265 30135265 21 ALL relapse snv ZNF341 nonsense R302* NM_032819 10-PASLZM ZNF341 NONSENSE SNP Somatic -6 0.072 SQHIGH 15 65 80 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 84905 20 32345116 32345116 29 ALL relapse snv ACSS2 missense R414C NM_018677 10-PASLZM ACSS2 MISSENSE SNP Somatic PFAM:PF04443:LuxE -4 0.084 SQHIGH 21 111 132 0 53 53 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 55902 20 33508905 33508905 33 ALL relapse snv KIAA1755 nonsense R63* NM_001029864 10-PASLZM KIAA1755 NONSENSE SNP Somatic 3 0.189 SQHIGH 25 45 70 1 44 45 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 85449 20 36874345 36874345 52 ALL relapse snv HNF4A missense A6V NM_001030003 10-PASLZM HNF4A MISSENSE SNP Somatic -3 0.092 SQHIGH 15 35 50 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3172 20 42984461 42984461 36 ALL relapse snv TSHZ2 missense G206R NM_173485 10-PASLZM TSHZ2 MISSENSE SNP Somatic 2 0.167 SQHIGH 25 72 97 0 37 37 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 128553 20 51870613 51870613 39 ALL relapse snv DIDO1 missense R2222Q NM_001193369 10-PASLZM DIDO1 MISSENSE SNP Somatic 6 0.295 SQHIGH 19 32 51 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 11083 20 61510643 61510643 51 ALL relapse snv YTHDF1 missense M51T NM_017798 10-PASLZM YTHDF1 MISSENSE SNP Somatic 8 0.376 SQHIGH 21 51 72 0 35 35 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54915 20 61835140 61835140 41 ALL relapse snv ADAMTS5 missense A536V NM_007038 10-PASLZM ADAMTS5 MISSENSE SNP Somatic 9 0.423 SQHIGH 10 27 37 0 26 26 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 11096 21 28306867 28306867 26 ALL relapse snv SCAF4 silent S13S NM_020706 10-PASLZM SCAF4 SYNONYMOUS SNP dbsnp.134:rs141072342 Somatic 3 0.189 SQHIGH 18 36 54 0 23 23 C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 57466 21 33078662 33078662 32 ALL relapse snv HLCS missense V550M NM_000411 10-PASLZM HLCS MISSENSE SNP dbsnp.132:rs119103231 Somatic PFAM:PF03099:BPL_LplA_LipB 2 0.167 SQHIGH 22 53 75 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3141 21 38137345 38137345 47 ALL relapse snv DSCR3 missense R126W NM_006052 10-PASLZM DSCR3 MISSENSE SNP Somatic PFAM:PF00339:Arrestin_N PFAM:PF03643:Vps26 9 0.423 SQHIGH 15 29 44 0 32 32 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10311 21 38605719 38605719 41 ALL relapse snv DSCR4 missense A114T NM_005867 10-PASLZM DSCR4 CDS SNP Somatic 3 0.189 SQHIGH 14 56 70 1 59 60 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 10281 21 39426966 39426966 31 ALL relapse snv DSCAM missense T783M NM_001389 10-PASLZM DSCAM MISSENSE SNP Somatic 6 0.295 SQHIGH 22 42 64 0 49 49 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1826 21 41648032 41648032 63 ALL relapse snv TRPM2 splice G988_E19splice NM_003307 10-PASLZM TRPM2 MISSENSE,UTR SNP Somatic 0 0.128 SQHIGH 9 29 38 0 15 15 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 7226 21 45826648 45826648 14 ALL relapse snv MICAL3 missense R1405W NM_015241 10-PASLZM MICAL3 MISSENSE SNP Somatic 4 0.217 SQHIGH 12 32 44 0 26 26 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 57553 22 18301214 18301214 27 ALL relapse snv FBXW4P1 EXON E4_exon NM_004327 10-PASLZM BCR|FBXW4P1 INTRON|UTR SNP Somatic -4 0.084 SQHIGH 15 68 83 0 45 45 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 613|26226 22 23606319 23606319 30 ALL relapse snv GGT1 silent T475T NM_001288833 10-PASLZM GGT1|BCRP3 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF01019:G_glu_transpept -10 0.052 SQHIGH 5 13 18 0 19 19 A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2678|644165 22 25024136 25024136 17 ALL relapse snv MN1 silent S1034S NM_002430 10-PASLZM MN1 SYNONYMOUS SNP Somatic 5 0.248 SQHIGH 17 38 55 0 23 23 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 4330 22 28193430 28193430 30 ALL relapse snv KIAA1656 EXON E4_exon NM_001017437 10-PASLZM CCDC157 INTRON SNP Somatic 5 0.248 SQHIGH 21 58 79 1 42 43 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 550631 22 30766108 30766108 34 ALL relapse snv SEC14L6 missense R40C NM_001193336 10-PASLZM SEC14L6 MISSENSE SNP Somatic PFAM:PF03765:CRAL_TRIO_N 4 0.217 SQHIGH 24 56 80 2 49 51 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 730005 22 30934826 30934826 39 ALL relapse snv DUSP18 missense L79V NM_152511 10-PASLZM DUSP18 MISSENSE SNP Somatic PFAM:PF00782:DSPc 9 0.423 SQHIGH 36 50 86 0 57 57 G G C G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 150290 22 31059756 31059756 96 ALL relapse snv CELSR1 silent C1653C NM_014246 10-PASLZM CELSR1 SYNONYMOUS SNP Somatic 6 0.295 SQHIGH 26 63 89 1 51 52 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9620 22 46805752 46805752 48 ALL relapse snv MOV10L1 missense R812W NM_018995 10-PASLZM MOV10L1 TSS-UPSTREAM,MISSENSE SNP Somatic 5 0.248 SQHIGH 19 52 71 0 36 36 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 54456 22 50582601 50582601 38 ALL relapse snv CHKB-CPT1B EXON E19_exon NM_004377 10-PASLZM CPT1B|CHKB-CPT1B UTR3,INTRON|UTR SNP Somatic 4 0.217 SQHIGH 25 48 73 0 32 32 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1375|386593 22 51007739 51007739 46 ALL relapse snv PLCXD1 missense G242S NM_018390 10-PASLZM PLCXD1 MISSENSE,UTR SNP Somatic -3 0.092 SQHIGH 15 41 56 0 30 30 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 55344 X 209876 209876 31 ALL relapse snv AKAP17A missense R530H NM_005088 10-PASLZM ASMT|AKAP17A INTRON|MISSENSE,UTR SNP dbsnp.134:rs146572098 Somatic -1 0.114 SQHIGH 16 34 50 0 24 24 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 438|8227 X 1719988 1719988 31 ALL relapse snv MXRA5 silent P2273P NM_015419 10-PASLZM MXRA5 SYNONYMOUS SNP Somatic PFAM:PF00047:ig -13 0.040 11 67 78 0 59 59 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 25878 X 3229425 3229425 28 ALL relapse snv MXRA5 missense C2069Y NM_015419 10-PASLZM MXRA5 MISSENSE SNP Somatic PFAM:PF00047:ig 1 0.147 SQHIGH 46 45 91 0 41 41 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 25878 X 3235516 3235516 96 ALL relapse snv SHROOM2 silent R700R NM_001649 10-PASLZM SHROOM2 SYNONYMOUS SNP Somatic PFAM:PF08688:ASD1 -1 0.114 SQHIGH 20 35 55 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 357 X 9864048 9864048 48 ALL relapse snv ZNF182 silent T257T NM_006962 10-PASLZM ZNF182 SYNONYMOUS SNP Somatic 8 0.376 SQHIGH 18 53 71 0 53 53 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 7569 X 47836715 47836715 48 ALL relapse snv UPRT silent A140A NM_145052 10-PASLZM UPRT SYNONYMOUS,UTR SNP Somatic PFAM:PF00156:Pribosyltran 7 0.335 SQHIGH 22 48 70 0 52 52 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 139596 X 74513340 74513340 60 ALL relapse snv COL4A6 splice_region G1325_E39splice_region NM_001847 10-PASLZM COL4A6 DONOR SNP Somatic 4 0.217 SQHIGH 23 75 98 0 43 43 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1288 X 107408103 107408103 40 ALL relapse snv IRS4 silent H556H NM_003604 10-PASLZM IRS4 SYNONYMOUS SNP Somatic 4 0.217 SQHIGH 15 54 69 0 49 49 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 8471 X 107977907 107977907 38 ALL relapse snv RBMXL3 silent P99P NM_001145346 10-PASLZM LRCH2|RBMXL3 INTRON|SYNONYMOUS SNP Somatic -3 0.092 SQHIGH 23 54 77 0 28 28 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 57631|139804 X 114424301 114424301 36 ALL relapse snv KIAA1210 nonsense R312* NM_020721 10-PASLZM KIAA1210 NONSENSE SNP Somatic 0 0.128 SQHIGH 14 40 54 0 23 23 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 57481 X 118239089 118239089 24 ALL relapse snv ATP11C missense I358T NM_173694 10-PASLZM ATP11C MISSENSE SNP Somatic -2 0.103 SQHIGH 9 35 44 0 27 27 Cosmic_Gene A A G A A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 286410 X 138878574 138878574 20 ALL relapse snv MAGEC3 missense R43W NM_138702 10-PASLZM MAGEC3 MISSENSE SNP Somatic -5 0.078 SQHIGH 5 17 22 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 139081 X 140953260 140953260 18 ALL relapse snv IDS silent S19S NM_000202 10-PASLZM IDS SYNONYMOUS,UTR5 SNP Somatic 6 0.295 SQHIGH 29 77 106 1 99 100 G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 3423 X 148586611 148586611 81 ALL relapse snv FLNA silent L1112L NM_001456 10-PASLZM FLNA SYNONYMOUS SNP Somatic PFAM:PF00630:Filamin 4 0.217 SQHIGH 20 53 73 1 42 43 Cosmic_Gene G G A G G TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 2316 X 153588827 153588827 35 ALL relapse snv WRAP73 splice_region L23_E1splice_region NM_017818 10-PASMVF TP73|WRAP73 TSS-UPSTREAM|INTRON SNP Somatic -1 0.082 SQHIGH 14 27 41 0 44 44 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 7161|49856 1 3566485 3566485 50 ALL relapse snv RNF207 splice_region Q291_E9splice_region NM_207396 10-PASMVF RNF207 DONOR SNP Somatic 6 0.187 SQHIGH 9 29 38 1 67 68 A A G A A TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 388591 1 6270358 6270358 34 ALL relapse snv VANGL1 silent V494V NM_138959 10-PASMVF VANGL1 SYNONYMOUS SNP Somatic PFAM:PF06638:Strabismus 12 0.423 SQHIGH 23 28 51 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 81839 1 116233907 116233907 82 ALL relapse snv TCHH missense E107D NM_007113 10-PASMVF TCHH MISSENSE SNP Somatic 6 0.187 SQHIGH 22 47 69 1 43 44 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 7062 1 152085372 152085372 43 ALL relapse snv TRIM46 silent V434V NM_025058 10-PASMVF TRIM46 SYNONYMOUS SNP Somatic 7 0.214 SQHIGH 25 42 67 1 68 69 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 80128 1 155152124 155152124 77 ALL relapse snv TNR missense E109K NM_003285 10-PASMVF TNR MISSENSE SNP dbsnp.134:rs149339053 Somatic 8 0.243 SQHIGH 27 35 62 1 78 79 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 7143 1 175375526 175375526 101 ALL relapse snv OBSCN missense A891S NM_001271223 10-PASMVF OBSCN INTRON SNP Somatic 6 0.187 SQHIGH 21 34 55 0 68 68 Cosmic_Gene G G T G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 84033 1 228407042 228407042 85 ALL relapse snv CCDC93 nonsense R197* NM_019044 10-PASMVF CCDC93 NONSENSE SNP Somatic PFAM:PF09762:KOG2701 9 0.278 SQHIGH 20 35 55 0 54 54 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 54520 2 118743576 118743576 69 ALL relapse snv TTN missense D8708H NM_133378 10-PASMVF TTN INTRON,MISSENSE SNP Somatic PFAM:PF00047:ig 15 0.697 SQHIGH 19 30 49 0 57 57 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 7273 2 179569345 179569345 74 ALL relapse snv COL8A1 missense E186K NM_001850 10-PASMVF COL8A1 MISSENSE SNP Somatic 7 0.214 SQHIGH 40 57 97 0 77 77 G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 1295 3 99513301 99513301 121 ALL relapse snv TMEM108-AS1 EXON E3_exon NM_023943 10-PASMVF TMEM108 INTRON SNP Somatic 15 0.697 SQHIGH 29 40 69 0 43 43 Cosmic_Gene G G C G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 66000 3 132967322 132967322 74 ALL relapse snv ZBBX missense E474Q NM_024687 10-PASMVF ZBBX MISSENSE SNP Somatic 0 0.091 SQHIGH 13 4 17 0 18 18 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 79740 3 167023736 167023736 58 ALL relapse snv NFXL1 missense H562Y NM_152995 10-PASMVF NFXL1 MISSENSE SNP Somatic 7 0.214 SQHIGH 20 31 51 0 56 56 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 152518 4 47887655 47887655 75 ALL relapse snv MRPL1 missense P283R NM_020236 10-PASMVF MRPL1 MISSENSE SNP dbsnp.134:rs137874988 Somatic 2 0.112 SQHIGH 12 16 28 0 19 19 C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 65008 4 78871021 78871021 32 ALL relapse snv KIAA1109 missense L2445F NM_015312 10-PASMVF KIAA1109 MISSENSE SNP Somatic 12 0.423 SQHIGH 12 21 33 0 20 20 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 84162 4 123187953 123187953 29 ALL relapse snv PLK4 missense A906V NM_014264 10-PASMVF PLK4 MISSENSE SNP Somatic PFAM:PF00659:POLO_box 10 0.318 SQHIGH 14 29 43 0 26 26 C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 10733 4 128817969 128817969 33 ALL relapse snv FREM3 missense K1507N NM_001168235 10-PASMVF FREM3 MISSENSE SNP Somatic 10 0.318 SQHIGH 38 62 100 0 89 89 C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 166752 4 144617308 144617308 123 ALL relapse snv FREM3 missense E466K NM_001168235 10-PASMVF FREM3 MISSENSE SNP Somatic 13 0.487 SQHIGH 32 46 78 0 70 70 C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 166752 4 144620433 144620433 106 ALL relapse snv FREM3 silent L382L NM_001168235 10-PASMVF FREM3 SYNONYMOUS SNP Somatic 0 0.091 SQHIGH 6 15 21 0 28 28 C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 166752 4 144620683 144620683 24 ALL relapse snv FREM3 missense E301D NM_001168235 10-PASMVF FREM3 MISSENSE SNP Somatic 3 0.123 SQHIGH 10 35 45 0 51 51 C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 166752 4 144620926 144620926 35 ALL relapse snv RAD50 missense E283D NM_005732 10-PASMVF RAD50 MISSENSE SNP Somatic 8 0.243 SQHIGH 18 38 56 0 58 58 Cosmic_Gene G G C G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 10111 5 131923346 131923346 63 ALL relapse snv FAM65B missense D1038H NM_014722 10-PASMVF FAM65B MISSENSE SNP Somatic 8 0.243 SQHIGH 22 30 52 0 62 62 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 9750 6 24806696 24806696 88 ALL relapse snv EYS missense R129K NM_001142800 10-PASMVF EYS MISSENSE SNP Somatic 11 0.366 SQHIGH 28 21 49 0 61 61 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 346007 6 66204918 66204918 124 ALL relapse snv DOPEY1 silent L794L NM_015018 10-PASMVF DOPEY1 SYNONYMOUS SNP Somatic 3 0.123 SQHIGH 8 23 31 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 23033 6 83839882 83839882 27 ALL relapse snv SAMD3 missense E162Q NM_001017373 10-PASMVF SAMD3 MISSENSE SNP Somatic -9 0.041 SQHIGH 6 27 33 0 33 33 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 154075 6 130505668 130505668 19 ALL relapse snv PPIL4 nonsense S376* NM_139126 10-PASMVF PPIL4 NONSENSE SNP Somatic 11 0.366 SQHIGH 11 23 34 0 21 21 G G C G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 85313 6 149833391 149833391 26 ALL relapse snv RPL13AP17 EXON E7_exon NM_012301 10-PASMVF RPL13AP17|MAGI2 UTR|INTRON SNP Somatic 11 0.366 SQHIGH 30 31 61 0 71 71 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 399670|9863 7 77988576 77988576 123 ALL relapse snv SGK223 missense E707Q NM_001080826 10-PASMVF SGK223 MISSENSE SNP Somatic 8 0.243 SQHIGH 32 51 83 0 88 88 C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 157285 8 8233800 8233800 117 ALL relapse snv NPBWR1 silent Q281Q NM_005285 10-PASMVF NPBWR1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 14 0.573 SQHIGH 19 29 48 0 50 50 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 2831 8 53853310 53853310 69 ALL relapse snv ARFGEF1 silent L1720L NM_006421 10-PASMVF ARFGEF1 SYNONYMOUS SNP Somatic 11 0.366 SQHIGH 28 37 65 0 41 41 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 10565 8 68113809 68113809 72 ALL relapse snv CSMD3 missense E1045K NM_198123 10-PASMVF CSMD3 MISSENSE SNP Somatic 14 0.573 SQHIGH 15 12 27 0 26 26 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 114788 8 113662450 113662450 56 ALL relapse snv DOCK8 missense S331C NM_203447 10-PASMVF DOCK8 MISSENSE SNP Somatic 12 0.423 SQHIGH 28 39 67 0 48 48 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 81704 9 328119 328119 79 ALL relapse snv KDM4C silent A546A NM_015061 10-PASMVF KDM4C SYNONYMOUS SNP Somatic -4 0.062 SQHIGH 9 28 37 0 46 46 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 23081 9 6986627 6986627 34 ALL relapse snv FRMPD1 missense S857L NM_014907 10-PASMVF FRMPD1 MISSENSE SNP Somatic 5 0.156 SQHIGH 27 34 61 1 81 82 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 22844 9 37744599 37744599 105 ALL relapse snv NRON EXON E6_exon NM_033446 10-PASMVF MVB12B INTRON SNP Somatic 6 0.187 SQHIGH 20 35 55 0 55 55 G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 89853 9 129170982 129170982 69 ALL relapse snv STKLD1 missense A192V NM_153710 10-PASMVF STKLD1 MISSENSE SNP Somatic 3 0.123 SQHIGH 25 45 70 2 68 70 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 169436 9 136256564 136256564 65 ALL relapse snv COL5A1 splice G883_E32splice NM_000093 10-PASMVF COL5A1 ACCEPTOR SNP Somatic 1 0.100 SQHIGH 35 56 91 0 87 87 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 1289 9 137680998 137680998 119 ALL relapse snv NEBL splice_region A921_E27splice_region NM_006393 10-PASMVF NEBL ACCEPTOR SNP Somatic 15 0.697 SQHIGH 25 29 54 0 55 55 Cosmic_Gene G G C G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 10529 10 21076244 21076244 92 ALL relapse snv KCNMA1 silent L312L NM_001014797 10-PASMVF KCNMA1 SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans PFAM:PF07885:Ion_trans_2 6 0.187 SQHIGH 18 35 53 0 52 52 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 3778 10 78872149 78872149 61 ALL relapse snv LIPN missense D351Y NM_001102469 10-PASMVF LIPN MISSENSE SNP Somatic 12 0.423 SQHIGH 15 28 43 0 60 60 G G T G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 643418 10 90537853 90537853 64 ALL relapse snv NOLC1 missense D172H NM_004741 10-PASMVF NOLC1 MISSENSE SNP Somatic 5 0.156 SQHIGH 36 51 87 0 68 68 Cosmic_Gene G G C G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 9221 10 103917878 103917878 108 ALL relapse snv NT5C2 missense C336Y NM_012229 10-PASMVF NT5C2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 6 0.187 SQHIGH 18 42 60 0 51 51 C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 22978 10 104853048 104853048 54 ALL relapse snv CORO1B missense V126M NM_020441 10-PASMVF CORO1B|PTPRCAP MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00400:WD40 8 0.243 SQHIGH 17 13 30 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 57175|5790 11 67209282 67209282 64 ALL relapse snv SHANK2-AS3 EXON E8_exon NM_012309 10-PASMVF SHANK2|SHANK2-AS3 INTRON|UTR SNP Somatic 4 0.139 SQHIGH 27 45 72 0 73 73 Cosmic_Gene G G T G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 22941|220070 11 70709528 70709528 95 ALL relapse snv RAB38 splice_region G68_E1splice_region NM_022337 10-PASMVF RAB38|MIR3166 DONOR|TSS-UPSTREAM SNP Somatic 2 0.112 SQHIGH 11 15 26 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 23682|100423040 11 87908348 87908348 42 ALL relapse snv TMPRSS5 missense S203P NM_030770 10-PASMVF TMPRSS5 MISSENSE SNP Somatic 7 0.214 SQHIGH 25 36 61 0 91 91 Cosmic_Gene A A G A A TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 80975 11 113566137 113566137 115 ALL relapse snv IGSF9B silent F65F NM_001277285 10-PASMVF IGSF9B SYNONYMOUS SNP dbsnp.134:rs145387553 Somatic PFAM:PF00047:ig PFAM:PF07686:V-set 7 0.214 SQHIGH 24 32 56 0 49 49 G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 22997 11 133816023 133816023 78 ALL relapse snv ZNF384 splice S331_E9splice NM_133476 10-PASMVF ZNF384 ACCEPTOR SNP Somatic 5 0.156 SQHIGH 32 49 81 0 70 70 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 171017 12 6778358 6778358 102 ALL relapse snv PTPN6 missense E249Q NM_002831 10-PASMVF PTPN6 MISSENSE SNP Somatic 2 0.112 SQHIGH 27 57 84 1 76 77 Cosmic_Gene G G C G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 5777 12 7064646 7064646 75 ALL relapse snv SMARCC2 missense E784Q NM_003075 10-PASMVF SMARCC2 MISSENSE SNP Somatic 7 0.214 SQHIGH 25 43 68 0 81 81 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 6601 12 56563665 56563665 98 ALL relapse snv STAB2 silent P577P NM_017564 10-PASMVF STAB2 SYNONYMOUS SNP Somatic PFAM:PF02469:Fasciclin 9 0.278 SQHIGH 23 43 66 0 61 61 Cosmic_Gene A A G A A TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 55576 12 104049356 104049356 75 ALL relapse snv ALG11 silent S419S NM_001004127 10-PASMVF UTP14C|ALG11 UTR5|SYNONYMOUS,UTR SNP Somatic 5 0.156 SQHIGH 19 22 41 0 30 30 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 9724|440138 13 52602504 52602504 55 ALL relapse snv OR10G2 silent L68L NM_001005466 10-PASMVF OR10G2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 8 0.243 SQHIGH 23 54 77 0 101 101 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 26534 14 22102795 22102795 93 ALL relapse snv COCH silent L219L NM_001135058 10-PASMVF COCH|LOC100506071 SYNONYMOUS|UTR SNP Somatic 8 0.243 SQHIGH 18 23 41 1 38 39 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 1690|100506071 14 31353786 31353786 52 ALL relapse snv CTAGE5 missense P788S NM_005930 10-PASMVF CTAGE5 MISSENSE SNP Somatic 4 0.139 SQHIGH 12 9 21 0 20 20 C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 4253 14 39819415 39819415 44 ALL relapse snv TLE3 missense S164F NM_005078 10-PASMVF TLE3 MISSENSE SNP Somatic 4 0.139 SQHIGH 8 13 21 0 19 19 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 7090 15 70358439 70358439 26 ALL relapse snv TMC3 missense R596T NM_001080532 10-PASMVF LOC100506942|TMC3 INTRON|MISSENSE SNP Somatic PFAM:PF07810:TMC 6 0.187 SQHIGH 18 37 55 0 50 50 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 100506942|342125 15 81633788 81633788 57 ALL relapse snv HOMER2 missense A282V NM_004839 10-PASMVF HOMER2 MISSENSE SNP Somatic 10 0.318 SQHIGH 33 30 63 0 77 77 G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 9455 15 83518654 83518654 142 ALL relapse snv NME3 missense D154H NM_002513 10-PASMVF NME3|EME2 MISSENSE|TSS-UPSTREAM SNP Somatic -3 0.068 SQHIGH 12 22 34 0 21 21 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 4832|197342 16 1820700 1820700 29 ALL relapse snv RPGRIP1L silent R1150R NM_015272 10-PASMVF RPGRIP1L SYNONYMOUS SNP Somatic 16 0.766 SQHIGH 18 26 44 0 57 57 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 23322 16 53653103 53653103 76 ALL relapse snv TERF2 missense S217L NM_005652 10-PASMVF TERF2 MISSENSE SNP Somatic -9 0.041 SQHIGH 12 26 38 1 32 33 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 7014 16 69406215 69406215 28 ALL relapse snv ZNF821 missense E47Q NM_017530 10-PASMVF ZNF821|ATXN1L MISSENSE|INTRON SNP Somatic 5 0.156 SQHIGH 36 53 89 0 97 97 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 55565|342371 16 71898853 71898853 135 ALL relapse snv ADAMTS18 missense E1181Q NM_199355 10-PASMVF ADAMTS18 MISSENSE SNP Somatic 8 0.243 SQHIGH 29 45 74 0 79 79 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 170692 16 77323170 77323170 107 ALL relapse snv CCDC47 missense G311R NM_020198 10-PASMVF CCDC47 MISSENSE SNP Somatic PFAM:PF07946:DUF1682 6 0.187 SQHIGH 23 43 66 0 49 49 C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 57003 17 61833617 61833617 64 ALL relapse snv RAB8A missense E107K NM_005370 10-PASMVF RAB8A MISSENSE SNP Somatic 7 0.214 SQHIGH 25 39 64 0 82 82 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 4218 19 16236352 16236352 104 ALL relapse snv OCEL1 missense K113N NM_024578 10-PASMVF OCEL1 MISSENSE SNP Somatic 4 0.139 SQHIGH 28 51 79 0 64 64 Cosmic_Gene G G T G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 79629 19 17337895 17337895 84 ALL relapse snv ZNF568 missense Q625E NM_198539 10-PASMVF ZNF568 INTRON,MISSENSE SNP Somatic 6 0.187 SQHIGH 15 27 42 0 42 42 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 374900 19 37441928 37441928 52 ALL relapse snv GPR4 silent F190F NM_005282 10-PASMVF GPR4 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 5 0.156 SQHIGH 20 32 52 0 35 35 Cosmic_Gene G G A G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 2828 19 46094555 46094555 53 ALL relapse snv DIDO1 missense Q1963E NM_001193369 10-PASMVF DIDO1 MISSENSE SNP Somatic PFAM:PF09770:PAT1 6 0.187 SQHIGH 11 22 33 1 43 44 Cosmic_Gene G G C G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 11083 20 61511421 61511421 36 ALL relapse snv ZNF157 missense E222Q NM_003446 10-PASMVF ZNF157 MISSENSE SNP Somatic 5 0.156 SQHIGH 15 52 67 0 81 81 G G C G G TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 7712 X 47272136 47272136 56 ALL relapse snv WBP5 silent V83V NM_016303 10-PASMVF WBP5 SYNONYMOUS SNP Somatic PFAM:PF04538:BEX 2 0.112 SQHIGH 10 37 47 0 52 52 C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 51186 X 102612861 102612861 35 ALL relapse snv GRIA3 missense F252L NM_007325 10-PASMVF GRIA3 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor 6 0.187 SQHIGH 17 37 54 1 64 65 COSMIC:mut:88020,COSMIC:mut:88021 Cosmic_Gene T T C T T TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 2892 X 122528822 122528822 55 ALL relapse snv TENM1 silent V888V NM_001163278 10-PASMVF TENM1 SYNONYMOUS SNP Somatic 9 0.278 SQHIGH 7 19 26 0 47 47 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 10178 X 123663821 123663821 34 ALL relapse snv F9 silent S448S NM_000133 10-PASMVF F9 SYNONYMOUS SNP Somatic 6 0.187 SQHIGH 18 47 65 0 79 79 Cosmic_Gene C C T C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 2158 X 138644188 138644188 69 ALL relapse snv G6PD missense E317Q NM_000402 10-PASMVF G6PD MISSENSE SNP Somatic PFAM:PF02781:G6PD_C 6 0.187 SQHIGH 18 55 73 0 77 77 Cosmic_Gene C C G C C TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 2539 X 153761796 153761796 62 ALL relapse complex CD58 proteinIns L118_Y119>RPK NM_001779 10-PASMVF CD58 INSERT+,UTR Sub Somatic -10 0.211 SQHIGH 23 43 66 0 63 63 CATAAA CATAAA CCTTGGGCC CATAAA CATAAA TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 965 1 117086939 117086944 77 ALL relapse complex SNRNP200 frameshift E1144fs NM_014014 10-PASMVF SNRNP200 FRAMESHIFT Sub Somatic -3 0.397 SQHIGH 70 87 157 0 130 130 Cosmic_Gene TC TC TGGGTCCGA TC TC TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 23020 2 96953228 96953229 223 ALL relapse mnv CCDC102B missense E333_E334>AQ NM_001093729 10-PASMVF CCDC102B MISSENSE Sub Somatic -3 0.397 SQHIGH 14 39 53 0 54 54 Cosmic_Gene AAG AAG CCC AAG AAG TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 79839 18 66541967 66541969 47 ALL diagnosis snv ITGB6 silent S592S NM_000888 10-PASMVF ITGB6 SYNONYMOUS SNP Somatic 0 0.093 SQHIGH 10 38 48 2 56 58 Cosmic_Gene G G A G G TARGET-10-PASMVF-09A-01D TARGET-10-PASMVF-10A-01D 3694 2 160982997 160982997 23 ALL diagnosis snv FSIP2 missense E3968Q NM_173651 10-PASMVF FSIP2 MISSENSE SNP Somatic -7 0.050 SQHIGH 6 42 48 0 60 60 G G C G G TARGET-10-PASMVF-09A-01D TARGET-10-PASMVF-10A-01D 401024 2 186665668 186665668 22 ALL diagnosis snv MAK nonsense R272* NM_005906 10-PASMVF MAK NONSENSE SNP Somatic 12 0.428 SQHIGH 17 29 46 0 51 51 Cosmic_Gene G G A G G TARGET-10-PASMVF-09A-01D TARGET-10-PASMVF-10A-01D 4117 6 10802142 10802142 63 ALL diagnosis snv RGL2 silent I652I NM_004761 10-PASMVF WDR46|RGL2 TSS-UPSTREAM|SYNONYMOUS,UTR SNP Somatic 17 0.892 SQHIGH 13 26 39 0 45 45 Cosmic_Gene G G A G G TARGET-10-PASMVF-09A-01D TARGET-10-PASMVF-10A-01D 9277|5863 6 33260844 33260844 49 ALL diagnosis snv ABCG4 missense H155D NM_022169 10-PASMVF ABCG4 MISSENSE SNP Somatic -8 0.046 SQHIGH 5 39 44 0 50 50 Cosmic_Gene C C G C C TARGET-10-PASMVF-09A-01D TARGET-10-PASMVF-10A-01D 64137 11 119025076 119025076 17 ALL diagnosis snv ATP8A2 missense N339K NM_016529 10-PASMVF ATP8A2 MISSENSE SNP Somatic PFAM:PF00122:E1-E2_ATPase -1 0.084 SQHIGH 11 59 70 0 87 87 Cosmic_Gene C C A C C TARGET-10-PASMVF-09A-01D TARGET-10-PASMVF-10A-01D 51761 13 26125601 26125601 41 ALL diagnosis snv LDLRAP1 missense S246T NM_015627 10-PASRXC LDLRAP1 MISSENSE SNP Somatic -4 0.084 SQHIGH 4 13 17 0 25 25 Cosmic_Gene G G C G G TARGET-10-PASRXC-09A-01D TARGET-10-PASRXC-14A-01D 26119 1 25890272 25890272 17 ALL diagnosis snv NEUROG1 missense A48P NM_006161 10-PASRXC NEUROG1 MISSENSE SNP Somatic -9 0.056 SQHIGH 3 7 10 0 26 26 C C G C C TARGET-10-PASRXC-09A-01D TARGET-10-PASRXC-14A-01D 4762 5 134871239 134871239 18 ALL diagnosis snv CDHR3 missense V224A NM_152750 10-PASRXC CDHR3 MISSENSE SNP Somatic PFAM:PF00028:Cadherin -9 0.056 SQHIGH 5 26 31 0 52 52 Cosmic_Gene T T C T T TARGET-10-PASRXC-09A-01D TARGET-10-PASRXC-14A-01D 222256 7 105636758 105636758 22 ALL diagnosis snv OLFML2B missense R367W NM_015441 10-PASSXJ OLFML2B MISSENSE SNP dbsnp.131:rs77628593 Somatic -10 0.036 SQHIGH 7 41 48 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 25903 1 161967990 161967990 26 ALL diagnosis snv ADD2 nonsense R457* NM_001617 10-PASSXJ ADD2 NONSENSE SNP Somatic -1 0.076 SQHIGH 10 39 49 2 49 51 Cosmic_Gene G G A G G TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 119 2 70905850 70905850 19 ALL diagnosis snv DYTN missense A110V NM_001093730 10-PASSXJ DYTN MISSENSE SNP Somatic PFAM:PF09068:efhand_1 2 0.102 SQHIGH 13 34 47 1 48 49 Cosmic_Gene G G A G G TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 391475 2 207570565 207570565 35 ALL diagnosis snv ADAMTS9 missense R989H NM_182920 10-PASSXJ ADAMTS9 MISSENSE SNP dbsnp.134:rs143377669 Somatic 3 0.114 SQHIGH 12 43 55 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 56999 3 64601694 64601694 37 ALL diagnosis snv ZFHX4 missense R873Q NM_024721 10-PASSXJ ZFHX4 MISSENSE SNP Somatic 4 0.129 SQHIGH 14 53 67 0 66 66 Cosmic_Gene G G A G G TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 79776 8 77619808 77619808 45 ALL diagnosis snv ZNF704 missense R402H NM_001033723 10-PASSXJ ZNF704 MISSENSE SNP Somatic -2 0.068 SQHIGH 7 24 31 1 43 44 C C T C C TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 619279 8 81553635 81553635 21 ALL diagnosis snv THRA missense R388W NM_001190919 10-PASSXJ THRA|NR1D1 INTRON,MISSENSE|UTR3 SNP Somatic -3 0.062 SQHIGH 5 26 31 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 7067|9572 17 38249324 38249324 14 ALL diagnosis snv SEC14L3 missense V98M NM_174975 10-PASSXJ SEC14L3 MISSENSE SNP Somatic -10 0.036 SQHIGH 7 37 44 0 59 59 Cosmic_Gene C C T C C TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 266629 22 30864626 30864626 27 ALL diagnosis snv APOL1 missense D395N NM_003661 10-PASSXJ APOL1 MISSENSE SNP Somatic 2 0.102 SQHIGH 12 43 55 1 61 62 Cosmic_Gene G G A G G TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 8542 22 36662065 36662065 33 ALL relapse snv TAS1R1 missense V288E NM_138697 10-PASSXJ TAS1R1 INTRON,MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor -2 0.069 SQHIGH 9 59 68 0 61 61 Cosmic_Gene T T A T T TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 80835 1 6635055 6635055 26 ALL relapse snv OLFML2B missense R367W NM_015441 10-PASSXJ OLFML2B MISSENSE SNP dbsnp.131:rs77628593 Somatic 2 0.103 SQHIGH 15 35 50 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 25903 1 161967990 161967990 57 ALL relapse snv ADD2 nonsense R457* NM_001617 10-PASSXJ ADD2 NONSENSE SNP Somatic 9 0.253 SQHIGH 26 27 53 2 49 51 Cosmic_Gene G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 119 2 70905850 70905850 71 ALL relapse snv DYTN missense A110V NM_001093730 10-PASSXJ DYTN MISSENSE SNP Somatic PFAM:PF09068:efhand_1 8 0.221 SQHIGH 9 16 25 1 48 49 Cosmic_Gene G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 391475 2 207570565 207570565 38 ALL relapse snv ADAMTS9 missense R989H NM_182920 10-PASSXJ ADAMTS9 MISSENSE SNP dbsnp.134:rs143377669 Somatic 15 0.655 SQHIGH 17 16 33 0 51 51 Cosmic_Gene C C T C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 56999 3 64601694 64601694 83 ALL relapse snv LARP7 missense G226D NM_016648 10-PASSXJ LARP7 MISSENSE SNP Somatic 0 0.084 SQHIGH 10 35 45 0 60 60 Cosmic_Gene G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 51574 4 113568385 113568385 40 ALL relapse snv IL31RA silent C367C NM_139017 10-PASSXJ IL31RA SYNONYMOUS SNP Somatic 7 0.194 SQHIGH 11 37 48 2 65 67 Cosmic_Gene C C T C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 133396 5 55201965 55201965 30 ALL relapse snv BAG6 missense A262V NM_004639 10-PASSXJ BAG6 MISSENSE SNP Somatic 3 0.114 SQHIGH 10 42 52 0 52 52 Cosmic_Gene G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 7917 6 31615389 31615389 32 ALL relapse snv COL12A1 missense R3028H NM_004370 10-PASSXJ COL12A1 MISSENSE SNP dbsnp.127:rs41266761 Somatic -7 0.046 SQHIGH 7 49 56 0 35 35 Cosmic_Gene C C T C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 1303 6 75797391 75797391 15 ALL relapse snv KIAA1244 silent S2081S NM_020340 10-PASSXJ KIAA1244 SYNONYMOUS SNP Somatic -5 0.054 SQHIGH 11 12 23 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 57221 6 138656226 138656226 49 ALL relapse snv ZFHX4 missense R873Q NM_024721 10-PASSXJ ZFHX4 MISSENSE SNP Somatic 15 0.655 SQHIGH 43 29 72 0 66 66 Cosmic_Gene G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 79776 8 77619808 77619808 160 ALL relapse snv ZNF704 missense R402H NM_001033723 10-PASSXJ ZNF704 MISSENSE SNP Somatic 10 0.290 SQHIGH 38 35 73 1 43 44 C C T C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 619279 8 81553635 81553635 87 ALL relapse snv GPR107 missense E567D NM_001136557 10-PASSXJ GPR107 MISSENSE SNP Somatic 1 0.093 SQHIGH 13 56 69 0 79 79 Cosmic_Gene G G T G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 57720 9 132891035 132891035 46 ALL relapse snv ZC3H14 missense K473E NM_024824 10-PASSXJ ZC3H14 INTRON,MISSENSE SNP Somatic -9 0.039 SQHIGH 5 38 43 0 54 54 Cosmic_Gene A A G A A TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 79882 14 89068330 89068330 18 ALL relapse snv ZNF592 silent L100L NM_014630 10-PASSXJ ZNF592 SYNONYMOUS SNP Somatic 6 0.169 SQHIGH 14 49 63 0 59 59 Cosmic_Gene G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 9640 15 85326206 85326206 44 ALL relapse snv THRA missense R388W NM_001190919 10-PASSXJ THRA|NR1D1 INTRON,MISSENSE|UTR3 SNP Somatic 9 0.253 SQHIGH 12 12 24 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 7067|9572 17 38249324 38249324 45 ALL relapse snv MUC16 missense T5746I NM_024690 10-PASSXJ MUC16 MISSENSE SNP Somatic 8 0.221 SQHIGH 34 36 70 0 81 81 Cosmic_Gene G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 94025 19 9070209 9070209 138 ALL relapse snv COL5A3 missense L142P NM_015719 10-PASSXJ COL5A3 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin -10 0.036 SQHIGH 5 13 18 1 26 27 Cosmic_Gene A A G A A TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 50509 19 10116484 10116484 15 ALL relapse snv ZNF880 missense R465K NM_001145434 10-PASSXJ ZNF880 MISSENSE SNP Somatic -10 0.036 SQHIGH 8 22 30 1 32 33 G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 400713 19 52888227 52888227 21 ALL relapse snv ACSS1 missense D116N NM_032501 10-PASSXJ ACSS1 MISSENSE SNP Somatic PFAM:PF11930:DUF3448 -3 0.063 SQHIGH 14 79 93 0 82 82 Cosmic_Gene C C T C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 84532 20 25028806 25028806 41 ALL relapse snv RBM39 silent P372P NM_184234 10-PASSXJ RBM39 UTR3,SYNONYMOUS SNP Somatic -2 0.069 SQHIGH 6 16 22 0 22 22 Cosmic_Gene C C T C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 9584 20 34300999 34300999 20 ALL relapse snv THOC5 splice Q458_E15splice NM_001002878 10-PASSXJ THOC5 DISRUPT SNP Somatic -4 0.058 SQHIGH 9 48 57 0 63 63 Cosmic_Gene C C A C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 8563 22 29915996 29915996 31 ALL relapse snv SEC14L3 missense V98M NM_174975 10-PASSXJ SEC14L3 MISSENSE SNP Somatic 17 0.864 SQHIGH 25 15 40 0 59 59 Cosmic_Gene C C T C C TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 266629 22 30864626 30864626 127 ALL relapse snv APOL1 missense D395N NM_003661 10-PASSXJ APOL1 MISSENSE SNP Somatic 17 0.864 SQHIGH 31 32 63 1 61 62 Cosmic_Gene G G A G G TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 8542 22 36662065 36662065 100 ALL relapse snv VPS13D missense I3081V NM_015378 10-PASUBW VPS13D MISSENSE SNP dbsnp.134:rs146487618 Somatic 11 0.363 SQHIGH 16 32 48 0 60 60 Cosmic_Gene A A G A A TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 55187 1 12409241 12409241 64 ALL relapse snv KCNH1 missense H391N NM_172362 10-PASUBW KCNH1 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 14 0.558 SQHIGH 24 17 41 0 33 33 Cosmic_Gene G G T G G TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 3756 1 211093273 211093273 81 ALL relapse snv RYR2 missense R1614C NM_001035 10-PASUBW RYR2 MISSENSE SNP Somatic 8 0.247 SQHIGH 31 42 73 0 64 64 Cosmic_Gene C C T C C TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 6262 1 237774218 237774218 101 ALL relapse snv FBXO40 missense M684V NM_016298 10-PASUBW FBXO40 MISSENSE SNP Somatic 14 0.558 SQHIGH 36 36 72 0 86 86 Cosmic_Gene A A G A A TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 51725 3 121345677 121345677 151 ALL relapse snv FRYL missense S2276A NM_015030 10-PASUBW FRYL MISSENSE SNP Somatic 5 0.158 SQHIGH 7 30 37 0 37 37 Cosmic_Gene A A C A A TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 285527 4 48533250 48533250 22 ALL relapse snv RSPO2 nonsense R31* NM_178565 10-PASUBW RSPO2 NONSENSE SNP Somatic 3 0.125 SQHIGH 21 78 99 1 76 77 Cosmic_Gene G G A G G TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 340419 8 109094776 109094776 46 ALL relapse snv LOC100133077 EXON E3_exon NM_000718 10-PASUBW CACNA1B|LOC100133077 INTRON|UTR SNP Somatic 11 0.363 SQHIGH 47 42 89 0 78 78 Cosmic_Gene C C T C C TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 774|100133077 9 140786479 140786479 163 ALL relapse snv AMIGO2 missense D84Y NM_001143668 10-PASUBW AMIGO2 MISSENSE SNP Somatic 6 0.190 SQHIGH 34 48 82 0 96 96 Cosmic_Gene C C A C C TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 347902 12 47472536 47472536 135 ALL relapse snv LMBR1L missense V223I NM_018113 10-PASUBW LMBR1L MISSENSE SNP Somatic PFAM:PF04791:LMBR1 -6 0.054 SQHIGH 8 57 65 1 66 67 Cosmic_Gene C C T C C TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 55716 12 49496699 49496699 18 ALL relapse snv LOC101928784 EXON E3_exon NM_134261 10-PASUBW RORA INTRON SNP Somatic 13 0.478 SQHIGH 24 35 59 0 37 37 Cosmic_Gene G G T G G TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 6095 15 60822685 60822685 61 ALL relapse snv CARD14 missense R465C NM_024110 10-PASUBW CARD14 MISSENSE SNP Somatic 8 0.247 SQHIGH 13 24 37 1 26 27 Cosmic_Gene C C T C C TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 79092 17 78169026 78169026 27 ALL relapse snv SEH1L missense N276T NM_001013437 10-PASUBW SEH1L MISSENSE SNP Somatic PFAM:PF00400:WD40 17 0.881 SQHIGH 19 26 45 0 48 48 A A C A A TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 81929 18 12982582 12982582 71 ALL relapse snv SHROOM4 missense E151K NM_020717 10-PASUBW SHROOM4 MISSENSE,UTR SNP Somatic 18 0.918 SQHIGH 25 2 27 0 19 19 Cosmic_Gene C T C TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 57477 X 50378622 50378622 103 ALL diagnosis snv VPS13D missense I3081V NM_015378 10-PASUBW VPS13D MISSENSE SNP dbsnp.134:rs146487618 Somatic 11 0.365 SQHIGH 18 25 43 0 60 60 Cosmic_Gene A A G A A TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 55187 1 12409241 12409241 80 ALL diagnosis snv KCNH1 missense H391N NM_172362 10-PASUBW KCNH1 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 15 0.686 SQHIGH 14 19 33 0 33 33 Cosmic_Gene G G T G G TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 3756 1 211093273 211093273 50 ALL diagnosis snv RYR2 missense R1614C NM_001035 10-PASUBW RYR2 MISSENSE SNP Somatic 6 0.188 SQHIGH 13 40 53 0 64 64 Cosmic_Gene C C T C C TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 6262 1 237774218 237774218 49 ALL diagnosis snv CNTN3 silent R171R NM_020872 10-PASUBW CNTN3 SYNONYMOUS SNP Somatic PFAM:PF00047:ig 11 0.365 SQHIGH 13 29 42 0 31 31 Cosmic_Gene C C A C C TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 5067 3 74420492 74420492 35 ALL diagnosis snv FBXO40 missense M684V NM_016298 10-PASUBW FBXO40 MISSENSE SNP Somatic 6 0.188 SQHIGH 26 43 69 0 86 86 Cosmic_Gene A A G A A TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 51725 3 121345677 121345677 105 ALL diagnosis snv PLXNA1 missense L1199H NM_032242 10-PASUBW PLXNA1 MISSENSE SNP Somatic 5 0.155 SQHIGH 8 38 46 1 57 58 Cosmic_Gene T T A T T TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 5361 3 126736671 126736671 22 ALL diagnosis snv LOC100133077 EXON E3_exon NM_000718 10-PASUBW CACNA1B|LOC100133077 INTRON|UTR SNP Somatic 11 0.365 SQHIGH 36 38 74 0 79 79 Cosmic_Gene C C T C C TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 774|100133077 9 140786479 140786479 139 ALL diagnosis snv PPP2R1B missense V575A NM_002716 10-PASUBW PPP2R1B MISSENSE SNP Somatic 13 0.481 SQHIGH 18 29 47 1 44 45 A A G A A TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 5519 11 111612842 111612842 50 ALL diagnosis snv SOCS4 missense T358P NM_199421 10-PASUBW SOCS4 MISSENSE SNP Somatic -9 0.040 SQHIGH 4 33 37 0 45 45 Cosmic_Gene A A C A A TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 122809 14 55510831 55510831 14 ALL diagnosis snv LOC101928784 EXON E3_exon NM_134261 10-PASUBW RORA INTRON SNP Somatic 13 0.481 SQHIGH 18 24 42 0 37 37 Cosmic_Gene G G T G G TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 6095 15 60822685 60822685 59 ALL diagnosis snv SEH1L missense N276T NM_001013437 10-PASUBW SEH1L MISSENSE SNP Somatic PFAM:PF00400:WD40 19 0.958 SQHIGH 18 11 29 0 48 48 A A C A A TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 81929 18 12982582 12982582 97 ALL diagnosis snv SHROOM4 missense E151K NM_020717 10-PASUBW SHROOM4 MISSENSE,UTR SNP Somatic 19 0.958 SQHIGH 30 1 31 0 19 19 Cosmic_Gene C T C TARGET-10-PASUBW-09A-01D TARGET-10-PASUBW-10A-01D 57477 X 50378622 50378622 122 ALL diagnosis snv C2orf70 missense S75P NM_001105519 10-PASWUH C2orf70 MISSENSE SNP Somatic PFAM:PF10629:DUF2475 -1 0.082 SQHIGH 9 33 42 1 37 38 Cosmic_Gene T T C T T TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 339778 2 26798918 26798918 20 ALL diagnosis snv SLC5A6 splice_region A426_E13splice_region NM_021095 10-PASWUH SLC5A6 ACCEPTOR SNP Somatic 14 0.472 SQHIGH 25 27 52 0 52 52 Cosmic_Gene A A T A A TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 8884 2 27424951 27424951 92 ALL diagnosis snv HIST1H4I silent I30I NM_003495 10-PASWUH HIST1H2BK|HIST1H4I INTRON|SYNONYMOUS SNP Somatic 16 0.645 SQHIGH 28 23 51 1 49 50 Cosmic_Gene C C T C C TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 85236|8294 6 27107177 27107177 92 ALL diagnosis snv IKZF1 missense R143L NM_006060 10-PASWUH IKZF1 INTRON,TSS-UPSTREAM,MISSENSE SNP Somatic 16 0.645 SQHIGH 20 17 37 1 39 40 Cosmic_Gene G G T G G TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 10320 7 50450244 50450244 68 ALL diagnosis snv USPL1 missense E729K NM_005800 10-PASWUH USPL1 MISSENSE SNP Somatic -9 0.042 SQHIGH 4 16 20 0 23 23 Cosmic_Gene G G A G G TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 10208 13 31232399 31232399 14 ALL diagnosis snv ZNF423 missense G513A NM_015069 10-PASWUH ZNF423 MISSENSE SNP Somatic -3 0.067 SQHIGH 7 37 44 0 49 49 Cosmic_Gene C C G C C TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 23090 16 49671525 49671525 24 ALL diagnosis snv EBP missense R171H NM_006579 10-PASWUH EBP MISSENSE SNP dbsnp.134:rs144209735 Somatic PFAM:PF05241:EBP 6 0.166 SQHIGH 23 23 46 0 44 44 Cosmic_Gene G G A G G TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 10682 X 48386664 48386664 83 ALL diagnosis mnv POU5F1P3 EXON E3_exon NM_016184 10-PASWUH POU5F1P3|CLEC4A UTR|INTRON Sub Somatic -1 0.517 SQHIGH 6 12 18 1 34 35 CA CA TG CA CA TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 642559|50856 12 8286679 8286680 24 ALL diagnosis snv DUSP7 missense H118R NM_001947 10-PASYGM DUSP7 MISSENSE SNP Somatic 4 0.181 SQHIGH 7 11 18 0 25 25 Cosmic_Gene T T C T T TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 1849 3 52090030 52090030 30 ALL diagnosis snv GDNF silent L22L NM_000514 10-PASYGM GDNF SYNONYMOUS SNP Somatic -8 0.064 SQHIGH 6 17 23 0 32 32 G G A G G TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 2668 5 37834835 37834835 25 ALL diagnosis snv TMEM120A splice F284_E11splice NM_031925 10-PASYGM TMEM120A DISRUPT SNP Somatic 3 0.166 SQHIGH 5 13 18 1 32 33 T T A T T TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 83862 7 75616748 75616748 18 ALL diagnosis snv HSP90AA1 missense E169K NM_001017963 10-PASYGM HSP90AA1 MISSENSE SNP Somatic PFAM:PF02518:HATPase_c 12 0.435 SQHIGH 16 29 45 0 37 37 Cosmic_Gene C C T C C TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 3320 14 102552577 102552577 48 ALL diagnosis snv NXF5 missense R3Q NM_032946 10-PASYGM NXF5 MISSENSE,UTR SNP Somatic 8 0.275 SQHIGH 13 34 47 0 47 47 Cosmic_Gene C C T C C TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 55998 X 101097757 101097757 43 ALL diagnosis snv PHF6 nonsense R225* NM_001015877 10-PASYGM PHF6 NONSENSE SNP Somatic 5 0.199 SQHIGH 9 24 33 0 32 32 Cosmic_Gene C C T C C TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 84295 X 133547940 133547940 29 ALL relapse snv KCND3-IT1 EXON E2_exon NM_004980 10-PATCTI KCND3 INTRON SNP Somatic -7 0.052 SQHIGH 7 36 43 0 38 38 Cosmic_Gene G G C G G TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 3752 1 112396582 112396582 20 ALL relapse snv GREB1 missense F171L NM_014668 10-PATCTI GREB1 MISSENSE SNP Somatic 7 0.212 SQHIGH 18 43 61 0 71 71 Cosmic_Gene C C A C C TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 9687 2 11716537 11716537 67 ALL relapse snv WNT6 missense S7C NM_006522 10-PATCTI WNT6 MISSENSE SNP Somatic 0 0.095 SQHIGH 4 12 16 0 19 19 Cosmic_Gene C C G C C TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 7475 2 219724780 219724780 15 ALL relapse snv ADIPOQ-AS1 EXON E1_exon NM_004797 10-PATCTI ADIPOQ INTRON SNP Somatic -10 0.040 SQHIGH 8 43 51 0 44 44 Cosmic_Gene T T A T T TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 9370 3 186570751 186570751 23 ALL relapse snv MSR1 silent S18S NM_138715 10-PATCTI MSR1 SYNONYMOUS SNP Somatic 9 0.269 SQHIGH 10 21 31 0 32 32 Cosmic_Gene G G A G G TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 4481 8 16035444 16035444 35 ALL relapse snv EBF2 missense V271I NM_022659 10-PATCTI EBF2 MISSENSE SNP Somatic -2 0.078 SQHIGH 10 50 60 0 59 59 Cosmic_Gene C C T C C TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 64641 8 25745429 25745429 31 ALL relapse snv SPATC1 missense R465H NM_198572 10-PATCTI SPATC1 INTRON,MISSENSE SNP Somatic 11 0.348 SQHIGH 28 40 68 1 48 49 Cosmic_Gene G G A G G TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 375686 8 145096220 145096220 67 ALL relapse snv TMEM72 missense Q35E NM_001123376 10-PATCTI LOC220980|TMEM72 TSS-UPSTREAM|MISSENSE SNP Somatic -4 0.066 SQHIGH 13 80 93 0 69 69 C C G C C TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 220980|643236 10 45423401 45423401 33 ALL relapse snv AARS missense I130T NM_001605 10-PATCTI AARS MISSENSE SNP Somatic 2 0.116 SQHIGH 13 49 62 0 43 43 Cosmic_Gene A A G A A TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 16 16 70310479 70310479 32 ALL relapse snv WSCD1 silent S277S NM_015253 10-PATCTI WSCD1 SYNONYMOUS SNP Somatic PFAM:PF01822:WSC 0 0.095 SQHIGH 10 46 56 0 71 71 G G A G G TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 23302 17 5998525 5998525 38 ALL relapse snv MAN2B1 silent T981T NM_000528 10-PATCTI MAN2B1 SYNONYMOUS SNP Somatic 2 0.116 SQHIGH 29 54 83 3 90 93 Cosmic_Gene A A G A A TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 4125 19 12757527 12757527 77 ALL relapse snv MYH14 missense A571V NM_001077186 10-PATCTI MYH14 MISSENSE SNP Somatic 8 0.239 SQHIGH 12 31 43 0 30 30 Cosmic_Gene C C T C C TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 79784 19 50753827 50753827 31 ALL relapse snv PREX1 missense S861R NM_020820 10-PATCTI PREX1 MISSENSE SNP Somatic 6 0.187 SQHIGH 20 55 75 0 81 81 Cosmic_Gene G G T G G TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 57580 20 47268006 47268006 70 ALL relapse snv DSCAM-IT1 EXON E3_exon NM_001389 10-PATCTI DSCAM INTRON SNP Somatic -3 0.071 SQHIGH 6 39 45 0 46 46 Cosmic_Gene T T A T T TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 1826 21 41993272 41993272 19 ALL relapse mnv ADIPOQ-AS1 EXON E1_exon NM_004797 10-PATCTI ADIPOQ INTRON Sub Somatic -9 0.230 SQHIGH 7 50 57 0 55 55 Cosmic_Gene GA GA AG GA GA TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 9370 3 186570754 186570755 21 ALL diagnosis snv PITX1 nonsense Q99* NM_002653 10-PATCTI PITX1 NONSENSE SNP Somatic -9 0.040 SQHIGH 4 39 43 0 69 69 Cosmic_Gene G G A G G TARGET-10-PATCTI-09A-01D TARGET-10-PATCTI-10A-01D 5307 5 134367073 134367073 17 ALL diagnosis snv MSR1 silent S18S NM_138715 10-PATCTI MSR1 SYNONYMOUS SNP Somatic 5 0.146 SQHIGH 6 19 25 0 32 32 Cosmic_Gene G G A G G TARGET-10-PATCTI-09A-01D TARGET-10-PATCTI-10A-01D 4481 8 16035444 16035444 23 ALL diagnosis snv SPATC1 missense R465H NM_198572 10-PATCTI SPATC1 INTRON,MISSENSE SNP Somatic 6 0.174 SQHIGH 13 36 49 1 48 49 Cosmic_Gene G G A G G TARGET-10-PATCTI-09A-01D TARGET-10-PATCTI-10A-01D 375686 8 145096220 145096220 34 ALL diagnosis snv MAN2B1 silent T981T NM_000528 10-PATCTI MAN2B1 SYNONYMOUS SNP Somatic 8 0.227 SQHIGH 20 59 79 3 90 93 Cosmic_Gene A A G A A TARGET-10-PATCTI-09A-01D TARGET-10-PATCTI-10A-01D 4125 19 12757527 12757527 48 ALL diagnosis snv MYH14 missense A571V NM_001077186 10-PATCTI MYH14 MISSENSE SNP Somatic 10 0.294 SQHIGH 13 22 35 0 30 30 Cosmic_Gene C C T C C TARGET-10-PATCTI-09A-01D TARGET-10-PATCTI-10A-01D 79784 19 50753827 50753827 40 ALL diagnosis mnv TUBGCP3 missense S159_S160>RL NM_006322 10-PATCTI TUBGCP3 MISSENSE Sub Somatic -10 0.210 SQHIGH 5 27 32 0 28 28 Cosmic_Gene ACTG ACTG CAAT ACTG ACTG TARGET-10-PATCTI-09A-01D TARGET-10-PATCTI-10A-01D 10426 13 113212578 113212581 14 ALL diagnosis snv GFI1 missense E50A NM_005263 10-PATISC GFI1 MISSENSE SNP Somatic -4 0.098 SQHIGH 6 28 34 1 40 41 Cosmic_Gene T T G T T TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 2672 1 92948570 92948570 15 ALL diagnosis snv USH2A missense R5125C NM_206933 10-PATISC USH2A MISSENSE SNP Somatic 17 0.859 SQHIGH 23 11 34 0 34 34 Cosmic_Gene G G A G G TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 7399 1 215802302 215802302 94 ALL diagnosis snv SSPO missense T3720M NM_198455 10-PATISC SSPO MISSENSE SNP Somatic -2 0.119 SQHIGH 7 5 12 0 14 14 C C T C C TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 23145 7 149513538 149513538 29 ALL diagnosis snv WDFY4 nonsense R1915* NM_020945 10-PATISC WDFY4 NONSENSE SNP Somatic 10 0.374 SQHIGH 28 37 65 1 72 73 C C T C C TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 57705 10 50029140 50029140 96 ALL diagnosis snv APAF1 missense S1122A NM_013229 10-PATISC APAF1 INTRON,MISSENSE SNP Somatic 10 0.374 SQHIGH 6 15 21 0 22 22 Cosmic_Gene T T G T T TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 317 12 99119259 99119259 21 ALL diagnosis snv TRPC4 missense R639Q NM_016179 10-PATISC TRPC4 INTRON,MISSENSE SNP Somatic 17 0.859 SQHIGH 23 24 47 0 41 41 Cosmic_Gene C C T C C TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 7223 13 38225565 38225565 77 ALL diagnosis snv TP53 missense R273L NM_000546 10-PATISC TP53 MISSENSE SNP Somatic 17 0.859 SQHIGH 17 13 30 0 41 41 COSMIC:mut:10779 Cosmic_Gene C C A C C TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 7157 17 7577120 7577120 79 ALL diagnosis snv RUNDC3A splice_region A75_E2splice_region NM_001144825 10-PATISC RUNDC3A INTRON SNP Somatic -10 0.062 SQHIGH 5 28 33 0 31 31 A A C A A TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 10900 17 42390072 42390072 15 ALL diagnosis snv ZNF837 silent G359G NM_138466 10-PATISC ZNF837 SYNONYMOUS SNP dbsnp.134:rs147175837 Somatic -3 0.108 SQHIGH 7 12 19 0 12 12 C C G C C TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 116412 19 58879623 58879623 17 ALL diagnosis snv FBLN1 silent D28D NM_006487 10-PATISC FBLN1 SYNONYMOUS SNP Somatic 10 0.374 SQHIGH 11 21 32 0 21 21 Cosmic_Gene C C T C C TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 2192 22 45914566 45914566 28 ALL diagnosis mnv GFPT2 missense Y35C NM_005110 10-PATISC GFPT2 MISSENSE Sub Somatic -7 0.317 SQHIGH 4 15 19 0 24 24 Cosmic_Gene GT GT AC GT GT TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 9945 5 179765503 179765504 15 ALL diagnosis snv FLG silent T1846T NM_002016 10-PATRIC FLG SYNONYMOUS SNP Somatic 10 0.262 SQHIGH 24 37 61 1 66 67 Cosmic_Gene G G T G G TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 2312 1 152281824 152281824 78 ALL diagnosis snv TRIM46 missense R468H NM_025058 10-PATRIC TRIM46 MISSENSE SNP Somatic PFAM:PF00041:fn3 3 0.122 SQHIGH 19 18 37 1 42 43 Cosmic_Gene G G A G G TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 80128 1 155152225 155152225 67 ALL diagnosis snv MUC4 missense G4806C NM_018406 10-PATRIC MUC4 MISSENSE SNP Somatic PFAM:PF00094:VWD 9 0.232 SQHIGH 9 9 18 0 31 31 C C A C C TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 4585 3 195489054 195489054 46 ALL diagnosis snv THBS2 missense S994L NM_003247 10-PATRIC THBS2 MISSENSE SNP Somatic PFAM:PF05735:TSP_C 6 0.166 SQHIGH 24 28 52 1 37 38 Cosmic_Gene G G A G G TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 7058 6 169623363 169623363 58 ALL diagnosis snv PAPPA silent V481V NM_002581 10-PATRIC PAPPA SYNONYMOUS SNP Somatic -3 0.068 SQHIGH 5 34 39 0 60 60 Cosmic_Gene C C G C C TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 5069 9 118950460 118950460 21 ALL diagnosis snv PRDM11 silent I912I NM_001256695 10-PATRIC SNP Somatic 12 0.345 SQHIGH 10 14 24 0 31 31 C C T C C TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 11 45248912 45248912 42 ALL diagnosis snv ATN1 missense H296L NM_001007026 10-PATRIC ATN1 MISSENSE SNP Somatic 1 0.100 SQHIGH 25 27 52 1 50 51 Cosmic_Gene A A T A A TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 1822 12 7045317 7045317 78 ALL diagnosis snv DNMT1 missense V82A NM_001130823 10-PATRIC DNMT1 MISSENSE SNP Somatic PFAM:PF06464:DMAP_binding -27 0.006 3 36 39 0 38 38 Cosmic_Gene A A G A A TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 1786 19 10291226 10291226 9 ALL diagnosis complex BTG1 frameshift E101_T103fs NM_001731 10-PATRIC BTG1 FRAMESHIFT Sub Somatic PFAM:PF07742:BTG -5 0.337 SQHIGH 20 30 50 0 39 39 TGTGAGT TGTGAGT TC TGTGAGT TGTGAGT TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 694 12 92538063 92538069 59 ALL diagnosis mnv BTG1 missense S100K NM_001731 10-PATRIC BTG1 MISSENSE Sub Somatic PFAM:PF07742:BTG 2 0.716 SQHIGH 18 21 39 0 37 37 AC AC CT AC AC TARGET-10-PATRIC-03A-01D TARGET-10-PATRIC-10A-01D 694 12 92538072 92538073 63 ALL diagnosis snv HPCA missense R70C NM_002143 10-PATTEE HPCA MISSENSE SNP Somatic PFAM:PF01023:S_100 12 0.354 SQHIGH 27 31 58 2 59 61 Cosmic_Gene C C T C C TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 3208 1 33354707 33354707 79 ALL diagnosis snv ERCC3 silent Y581Y NM_000122 10-PATTEE ERCC3 SYNONYMOUS SNP dbsnp.134:rs147061557 Somatic 6 0.163 SQHIGH 15 44 59 0 59 59 Cosmic_Gene G G A G G TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 2071 2 128030525 128030525 50 ALL diagnosis snv COL6A6 missense G1150R NM_001102608 10-PATTEE COL6A6 MISSENSE SNP dbsnp.134:rs148700491 Somatic 17 0.848 SQHIGH 19 21 40 0 41 41 Cosmic_Gene G G A G G TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 131873 3 130293270 130293270 71 ALL diagnosis snv DPH7 silent T279T NM_138778 10-PATTEE DPH7 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 3 0.115 SQHIGH 12 51 63 1 78 79 C C T C C TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 92715 9 140458998 140458998 36 ALL diagnosis snv ZNF503 silent A398A NM_032772 10-PATTEE ZNF503|ZNF503-AS2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -4 0.061 SQHIGH 8 26 34 0 32 32 Cosmic_Gene C C T C C TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 84858|100131213 10 77159254 77159254 25 ALL diagnosis snv MRGPRX3 missense A46T NM_054031 10-PATTEE MRGPRX3 MISSENSE SNP Somatic 2 0.104 SQHIGH 37 53 90 0 98 98 Cosmic_Gene G G A G G TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 117195 11 18158885 18158885 140 ALL diagnosis snv LRRC4C missense V145L NM_020929 10-PATTEE LRRC4C MISSENSE SNP Somatic -3 0.065 SQHIGH 9 52 61 0 83 83 Cosmic_Gene C C A C C TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 57689 11 40137410 40137410 35 ALL diagnosis snv KRAS missense G12V NM_033360 10-PATTEE KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 7 0.184 SQHIGH 13 19 32 0 50 50 COSMIC:mut:520 Cosmic_Gene C C A C C TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 3845 12 25398284 25398284 61 ALL diagnosis snv PLA2G4F splice_region E714_E18splice_region NM_213600 10-PATTEE PLA2G4F DONOR SNP Somatic 3 0.115 SQHIGH 12 40 52 0 62 62 Cosmic_Gene C C T C C TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 255189 15 42436171 42436171 44 ALL diagnosis snv ANP32A-IT1 EXON E1_exon NM_006305 10-PATTEE MIR4312|ANP32A|ANP32A-IT1 TSS-UPSTREAM|INTRON|UTR SNP Somatic 13 0.412 SQHIGH 20 22 42 0 45 45 C C A C C TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 100422971|8125|80035 15 69098533 69098533 77 ALL diagnosis snv CACNA1H missense S1591N NM_021098 10-PATTEE CACNA1H INTRON,MISSENSE SNP Somatic 6 0.163 SQHIGH 20 32 52 0 62 62 Cosmic_Gene G G A G G TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 8912 16 1262523 1262523 79 ALL diagnosis snv ZMYND15 nonsense R356* NM_001136046 10-PATTEE ZMYND15|CXCL16 NONSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF01753:zf-MYND 8 0.207 SQHIGH 37 48 85 0 52 52 C C T C C TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 84225|58191 17 4645708 4645708 94 ALL diagnosis snv AP1S2 missense G95C NM_003916 10-PATTEE AP1S2 MISSENSE SNP Somatic PFAM:PF01217:Clat_adaptor_s 19 0.944 SQHIGH 20 17 37 0 38 38 C C A C C TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 8905 X 15864031 15864031 77 ALL relapse snv HPCA missense R70C NM_002143 10-PATTEE HPCA MISSENSE SNP Somatic PFAM:PF01023:S_100 10 0.280 SQHIGH 39 47 86 2 59 61 Cosmic_Gene C C T C C TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 3208 1 33354707 33354707 87 ALL relapse snv COL6A6 missense G1150R NM_001102608 10-PATTEE COL6A6 MISSENSE SNP dbsnp.134:rs148700491 Somatic 17 0.850 SQHIGH 22 19 41 0 41 41 Cosmic_Gene G G A G G TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 131873 3 130293270 130293270 83 ALL relapse snv DEPDC1B missense E179Q NM_018369 10-PATTEE DEPDC1B MISSENSE SNP Somatic -2 0.074 SQHIGH 4 22 26 0 29 29 Cosmic_Gene C C G C C TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 55789 5 59941362 59941362 14 ALL relapse snv AK9 missense M1705T NM_001145128 10-PATTEE AK9 MISSENSE SNP Somatic 0 0.090 SQHIGH 4 28 32 0 38 38 Cosmic_Gene A A G A A TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 221264 6 109819101 109819101 14 ALL relapse snv MEOX2 missense A142T NM_005924 10-PATTEE MEOX2 MISSENSE SNP Somatic 1 0.100 SQHIGH 12 13 25 0 29 29 Cosmic_Gene C C T C C TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 4223 7 15725604 15725604 48 ALL relapse snv AP3M2 missense I251L NM_001134296 10-PATTEE AP3M2 MISSENSE SNP Somatic PFAM:PF00928:Adap_comp_sub 0 0.090 SQHIGH 10 32 42 2 39 41 A A C A A TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 10947 8 42023026 42023026 18 ALL relapse snv KRAS missense G12A NM_033360 10-PATTEE KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 3 0.121 SQHIGH 9 25 34 0 50 50 COSMIC:mut:522 Cosmic_Gene C C G C C TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 3845 12 25398284 25398284 38 ALL relapse snv ANP32A-IT1 EXON E1_exon NM_006305 10-PATTEE MIR4312|ANP32A|ANP32A-IT1 TSS-UPSTREAM|INTRON|UTR SNP Somatic 10 0.280 SQHIGH 24 32 56 0 45 45 C C A C C TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 100422971|8125|80035 15 69098533 69098533 74 ALL relapse snv CACNA1H missense S1591N NM_021098 10-PATTEE CACNA1H INTRON,MISSENSE SNP Somatic 13 0.424 SQHIGH 28 29 57 0 62 62 Cosmic_Gene G G A G G TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 8912 16 1262523 1262523 110 ALL relapse snv CCDC113 missense F316L NM_014157 10-PATTEE CCDC113 MISSENSE SNP Somatic 8 0.218 SQHIGH 22 37 59 0 44 44 C C A C C TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 29070 16 58312442 58312442 62 ALL relapse snv UNC45B missense A780V NM_173167 10-PATTEE UNC45B MISSENSE SNP Somatic PFAM:PF00514:Arm 2 0.110 SQHIGH 13 31 44 0 45 45 Cosmic_Gene C C T C C TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 146862 17 33507655 33507655 44 ALL relapse snv MEGF8 missense F2395S NM_001410 10-PATTEE MEGF8 MISSENSE SNP Somatic -9 0.043 SQHIGH 4 29 33 0 37 37 Cosmic_Gene T T C T T TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 1954 19 42879774 42879774 14 ALL relapse snv AP1S2 missense G95C NM_003916 10-PATTEE AP1S2 MISSENSE SNP Somatic PFAM:PF01217:Clat_adaptor_s 19 0.946 SQHIGH 16 15 31 0 38 38 C C A C C TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 8905 X 15864031 15864031 68 ALL diagnosis snv FAM46C missense I64T NM_017709 10-CAAABC FAM46C MISSENSE SNP Somatic PFAM:PF07984:DUF1693 -6 0.070 SQHIGH 5 24 29 0 30 30 T T C T T TARGET-10-CAAABC-09A-01D TARGET-10-CAAABC-14A-01D 54855 1 118165681 118165681 16 ALL diagnosis snv ARHGEF11 missense R218Q NM_198236 10-CAAABC ARHGEF11 INTRON,MISSENSE SNP Somatic 11 0.346 SQHIGH 15 25 40 1 40 41 Cosmic_Gene C C T C C TARGET-10-CAAABC-09A-01D TARGET-10-CAAABC-14A-01D 9826 1 156941538 156941538 43 ALL diagnosis snv ITPKB-IT1 EXON E2_exon NM_002221 10-CAAABC ITPKB INTRON SNP Somatic 1 0.126 SQHIGH 5 26 31 0 24 24 Cosmic_Gene C C G C C TARGET-10-CAAABC-09A-01D TARGET-10-CAAABC-14A-01D 3707 1 226844021 226844021 13 ALL diagnosis snv ALS2CR12 silent H299H NM_139163 10-CAAABC ALS2CR12 SYNONYMOUS SNP Somatic -10 0.051 SQHIGH 9 37 46 1 53 54 Cosmic_Gene A A G A A TARGET-10-CAAABC-09A-01D TARGET-10-CAAABC-14A-01D 130540 2 202164006 202164006 24 ALL diagnosis snv ADD1 missense E598G NM_001119 10-CAAABC ADD1 MISSENSE SNP Somatic 7 0.227 SQHIGH 19 46 65 1 65 66 Cosmic_Gene A A G A A TARGET-10-CAAABC-09A-01D TARGET-10-CAAABC-14A-01D 118 4 2927771 2927771 54 ALL diagnosis snv EED missense S259F NM_003797 10-CAAABC EED MISSENSE SNP Somatic PFAM:PF00400:WD40 8 0.251 SQHIGH 9 7 16 0 45 45 Cosmic_Gene C C T C C TARGET-10-CAAABC-09A-01D TARGET-10-CAAABC-14A-01D 8726 11 85977174 85977174 62 ALL diagnosis snv AEBP2 nonsense S83* NM_153207 10-CAAABC AEBP2 NONSENSE SNP Somatic 12 0.394 SQHIGH 15 7 22 0 22 22 Cosmic_Gene C C A C C TARGET-10-CAAABC-09A-01D TARGET-10-CAAABC-14A-01D 121536 12 19592881 19592881 61 ALL diagnosis snv MINOS1P1 EXON E6_exon NM_033111 10-CAAABC N4BP2L2 INTRON SNP Somatic -6 0.070 SQHIGH 6 19 25 1 25 26 T T C T T TARGET-10-CAAABC-09A-01D TARGET-10-CAAABC-14A-01D 10443 13 33070400 33070400 14 ALL diagnosis snv ZNF234 missense N685D NM_006630 10-CAAABC ZNF234 MISSENSE SNP Somatic 9 0.278 SQHIGH 9 27 36 1 38 39 A A G A A TARGET-10-CAAABC-09A-01D TARGET-10-CAAABC-14A-01D 10780 19 44662222 44662222 23 ALL diagnosis snv PELI1 splice_region G24_E3splice_region NM_020651 10-CAAABD PELI1 ACCEPTOR SNP Somatic -7 0.064 SQHIGH 4 24 28 0 31 31 Cosmic_Gene G G A G G TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 57162 2 64331974 64331974 13 ALL diagnosis snv UGT1A4 silent G15G NM_007120 10-CAAABD UGT1A4|UGT1A9|UGT1A10|UGT1A6|UGT1A8|UGT1A7|UGT1A5 SYNONYMOUS|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 4 0.177 SQHIGH 4 21 25 0 35 35 Cosmic_Gene A A C A A TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 54657|54600|54575|54578|54576|54577|54579 2 234627511 234627511 16 ALL diagnosis snv LMLN silent G173G NM_001136049 10-CAAABD LMLN SYNONYMOUS,UTR SNP Somatic PFAM:PF01457:Peptidase_M8 -5 0.075 SQHIGH 5 14 19 0 21 21 Cosmic_Gene C C A C C TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 89782 3 197703556 197703556 18 ALL diagnosis snv AQP1 missense A110T NM_198098 10-CAAABD AQP1 MISSENSE SNP Somatic 7 0.240 SQHIGH 9 29 38 2 44 46 G G A G G TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 358 7 30951852 30951852 20 ALL diagnosis snv LOC102723729 EXON E1_exon NM_178819 10-CAAABD AGPAT6 INTRON SNP Somatic -2 0.099 SQHIGH 8 24 32 1 29 30 T T C T T TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 137964 8 41435826 41435826 18 ALL diagnosis snv ARMC3 missense N382T NM_173081 10-CAAABD ARMC3 MISSENSE SNP Somatic 4 0.177 SQHIGH 5 22 27 0 32 32 A A C A A TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 219681 10 23270599 23270599 18 ALL diagnosis snv STK4 missense D31G NM_006282 10-CAAABD STK4 MISSENSE SNP Somatic -9 0.054 SQHIGH 6 20 26 0 27 27 Cosmic_Gene A A G A A TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 6789 20 43600775 43600775 20 ALL diagnosis snv TMEM201 missense S402R NM_001130924 10-CAAABF TMEM201 MISSENSE SNP Somatic 11 0.565 SQHIGH 32 14 46 0 35 35 C C G C C TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 199953 1 9667660 9667660 112 ALL diagnosis snv SH2D5 silent R264R NM_001103161 10-CAAABF SH2D5 SYNONYMOUS SNP Somatic 8 0.501 SQHIGH 21 10 31 0 25 25 C C T C C TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 400745 1 21050583 21050583 75 ALL diagnosis snv ZSCAN20 missense N264I NM_145238 10-CAAABF ZSCAN20 MISSENSE SNP Somatic 17 0.875 SQHIGH 27 14 41 0 54 54 Cosmic_Gene A A T A A TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 7579 1 33956649 33956649 130 ALL diagnosis snv NEURL3 silent X263X NM_001285485 10-CAAABF NEURL3 UTR SNP Somatic 12 0.589 SQHIGH 27 24 51 1 50 51 C C T C C TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 93082 2 97163982 97163982 89 ALL diagnosis snv TTN missense K21234E NM_133378 10-CAAABF TTN|LOC100506866 MISSENSE|INTRON SNP Somatic 14 0.666 SQHIGH 29 23 52 0 57 57 Cosmic_Gene T T C T T TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 7273|100506866 2 179439455 179439455 118 ALL diagnosis snv AOX1 missense E193K NM_001159 10-CAAABF AOX1 MISSENSE SNP Somatic 15 0.734 SQHIGH 22 18 40 0 33 33 Cosmic_Gene G G A G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 316 2 201468068 201468068 74 ALL diagnosis snv LIMD1 missense W190R NM_014240 10-CAAABF LIMD1 MISSENSE SNP Somatic 13 0.619 SQHIGH 47 21 68 0 39 39 Cosmic_Gene T T C T T TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 8994 3 45636939 45636939 135 ALL diagnosis snv MYH15 missense H1015D NM_014981 10-CAAABF MYH15 MISSENSE SNP Somatic -7 0.183 SQHIGH 5 20 25 0 19 19 Cosmic_Gene G G C G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 22989 3 108158676 108158676 13 ALL diagnosis snv SLC9C1 missense P1167S NM_183061 10-CAAABF SLC9A10 MISSENSE SNP Somatic 16 0.785 SQHIGH 19 16 35 0 40 40 Cosmic_Gene G G A G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 285335 3 111870729 111870729 78 ALL diagnosis snv PTPN13 missense Q1605H NM_080683 10-CAAABF PTPN13 MISSENSE SNP Somatic 11 0.565 SQHIGH 6 19 25 0 24 24 Cosmic_Gene G G T G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 5783 4 87692335 87692335 19 ALL diagnosis snv LOC100507053 EXON E5_exon NM_000670 10-CAAABF ADH4|LOC100507053 INTRON|UTR SNP Somatic 11 0.565 SQHIGH 24 31 55 1 36 37 Cosmic_Gene G G A G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 127|100507053 4 100054856 100054856 54 ALL diagnosis snv JMY missense G516C NM_152405 10-CAAABF JMY MISSENSE SNP Somatic 18 0.901 SQHIGH 12 8 20 0 24 24 G G T G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 133746 5 78595994 78595994 52 ALL diagnosis snv FBN2 silent P1015P NM_001999 10-CAAABF FBN2 SYNONYMOUS SNP Somatic PFAM:PF00683:TB 16 0.785 SQHIGH 29 16 45 0 36 36 Cosmic_Gene G G A G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 2201 5 127681221 127681221 101 ALL diagnosis snv KIAA1244 missense G917E NM_020340 10-CAAABF KIAA1244 MISSENSE SNP Somatic 8 0.501 SQHIGH 22 10 32 0 14 14 Cosmic_Gene G G A G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 57221 6 138608018 138608018 51 ALL diagnosis snv LMBR1 silent S46S NM_022458 10-CAAABF LMBR1 SYNONYMOUS SNP Somatic PFAM:PF04791:LMBR1 13 0.619 SQHIGH 25 22 47 0 44 44 T T G T T TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 64327 7 156629508 156629508 90 ALL diagnosis snv CSMD1 missense S591L NM_033225 10-CAAABF CSMD1 MISSENSE SNP Somatic 15 0.734 SQHIGH 30 12 42 0 48 48 Cosmic_Gene G G A G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 64478 8 3265720 3265720 138 ALL diagnosis snv SPATA31E1 silent R1209R NM_178828 10-CAAABF SPATA31E1 SYNONYMOUS SNP Somatic 13 0.619 SQHIGH 19 11 30 0 31 32 Cosmic_Gene A A C A A TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 286234 9 90503027 90503027 77 ALL diagnosis snv SFXN4 silent E7E NM_213649 10-CAAABF SFXN4 SYNONYMOUS SNP Somatic 8 0.501 SQHIGH 33 46 79 0 33 33 Cosmic_Gene C C T C C TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 119559 10 120925139 120925139 61 ALL diagnosis snv KIF5A silent L529L NM_004984 10-CAAABF KIF5A SYNONYMOUS SNP Somatic 14 0.666 SQHIGH 39 15 54 0 36 36 Cosmic_Gene G G A G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 3798 12 57966380 57966380 127 ALL diagnosis snv CCDC92 silent P301P NM_025140 10-CAAABF CCDC92 SYNONYMOUS SNP Somatic 18 0.901 SQHIGH 25 9 34 0 27 27 C C T C C TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 80212 12 124421698 124421698 92 ALL diagnosis snv WDFY2 silent S304S NM_052950 10-CAAABF WDFY2 SYNONYMOUS SNP Somatic -4 0.245 SQHIGH 8 42 50 1 42 43 T T C T T TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 115825 13 52329574 52329574 16 ALL diagnosis snv SERPINA1 missense G410E NM_000295 10-CAAABF SERPINA1 MISSENSE SNP Somatic 6 0.462 SQHIGH 57 21 78 0 61 61 Cosmic_Gene C C T C C TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 5265 14 94844814 94844814 210 ALL diagnosis snv ADAMTSL3 missense D478G NM_207517 10-CAAABF ADAMTSL3 MISSENSE SNP Somatic -4 0.245 SQHIGH 5 27 32 0 30 30 Cosmic_Gene A A G A A TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 57188 15 84561606 84561606 15 ALL diagnosis snv LMF1-AS1 EXON E2_exon NM_022773 10-CAAABF LMF1 INTRON,UTR SNP Somatic 16 0.785 SQHIGH 29 16 45 0 38 38 C C T C C TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 64788 16 984028 984028 105 ALL diagnosis snv SHISA6 splice_region T369_E5splice_region NM_207386 10-CAAABF SHISA6 DONOR SNP Somatic 1 0.353 SQHIGH 7 32 39 0 46 46 Cosmic_Gene G G T G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 388336 17 11459214 11459214 25 ALL diagnosis snv SCN4A missense E81K NM_000334 10-CAAABF SCN4A MISSENSE SNP Somatic 15 0.734 SQHIGH 30 25 55 0 54 54 Cosmic_Gene C C T C C TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 6329 17 62049961 62049961 113 ALL diagnosis snv UMODL1 splice_region M825_E14splice_region NM_001004416 10-CAAABF UMODL1 DONOR SNP Somatic 12 0.589 SQHIGH 41 58 99 0 38 38 Cosmic_Gene G G T G G TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 89766 21 43536098 43536098 71 ALL diagnosis snv CXorf30 splice_region R454_E16splice_region NM_001098843 10-CAAABF CXorf30 DONOR SNP Somatic 9 0.519 SQHIGH 11 1 12 0 11 11 Cosmic_Gene T G T TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 645090 X 36379622 36379622 51 ALL diagnosis snv DRP2 missense V697G NM_001939 10-CAAABF DRP2 MISSENSE SNP Somatic 17 0.875 SQHIGH 33 10 43 0 19 19 Cosmic_Gene T G T TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 1821 X 100509526 100509526 83 ALL diagnosis complex SPAST frameshift I440fs NM_014946 10-CAAABF SPAST FRAMESHIFT Sub Somatic -9 0.384 SQHIGH 21 12 33 1 30 31 Cosmic_Gene TA TA TGG TA TA TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 6683 2 32361705 32361706 69 ALL diagnosis mnv KLHDC7B missense A507D NM_138433 10-CAAABF KLHDC7B MISSENSE Sub Somatic -10 0.363 SQHIGH 10 5 15 0 13 13 Cosmic_Gene CC CC AT CC CC TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 113730 22 50988115 50988116 36 ALL diagnosis snv USH2A silent V2363V NM_206933 10-PAKHZT USH2A SYNONYMOUS SNP Somatic 8 0.288 SQHIGH 10 8 18 0 28 28 Cosmic_Gene G G T G G TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 7399 1 216138690 216138690 50 ALL diagnosis snv TTN missense K6309N NM_133378 10-PAKHZT TTN INTRON,MISSENSE SNP Somatic 2 0.155 SQHIGH 19 21 40 2 45 47 Cosmic_Gene C C A C C TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 7273 2 179586731 179586731 57 ALL diagnosis snv SPEG missense R1244C NM_005876 10-PAKHZT SPEG MISSENSE SNP Somatic PFAM:PF00047:ig 16 0.712 SQHIGH 20 19 39 0 38 38 Cosmic_Gene C C T C C TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 10290 2 220336604 220336604 73 ALL diagnosis snv RTP1 missense R180H NM_153708 10-PAKHZT RTP1 MISSENSE SNP Somatic 10 0.355 SQHIGH 21 5 26 0 16 16 Cosmic_Gene G G A G G TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 132112 3 186917605 186917605 69 ALL diagnosis snv ABCG2 missense L134M NM_004827 10-PAKHZT ABCG2 MISSENSE SNP Somatic 5 0.207 SQHIGH 9 33 42 2 48 50 Cosmic_Gene G G T G G TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 9429 4 89052344 89052344 19 ALL diagnosis snv FAT2 missense R4190C NM_001447 10-PAKHZT FAT2 MISSENSE SNP Somatic 14 0.574 SQHIGH 18 15 33 0 18 18 Cosmic_Gene G G A G G TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 2196 5 150885608 150885608 44 ALL diagnosis snv SUMF2 splice G245_E8splice NM_015411 10-PAKHZT SUMF2 ACCEPTOR,INTRON SNP Somatic 17 0.810 SQHIGH 17 16 33 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 25870 7 56146054 56146054 66 ALL diagnosis snv JAK2 missense R867Q NM_004972 10-PAKHZT JAK2 MISSENSE SNP Somatic 2 0.155 SQHIGH 20 7 27 1 29 30 Cosmic_Gene G G A G G TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 3717 9 5089702 5089702 79 ALL diagnosis snv AHNAK silent K4241K NM_001620 10-PAKHZT AHNAK SYNONYMOUS,INTRON SNP Somatic 15 0.639 SQHIGH 27 32 59 2 64 66 Cosmic_Gene C C T C C TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 79026 11 62289166 62289166 83 ALL diagnosis snv MYO1A missense R559C NM_005379 10-PAKHZT MYO1A MISSENSE SNP Somatic -4 0.085 SQHIGH 13 9 22 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 4640 12 57432281 57432281 62 ALL diagnosis snv ZZEF1 splice K1162_E24splice NM_015113 10-PAKHZT ZZEF1 DISRUPT SNP Somatic -1 0.115 SQHIGH 6 11 17 1 39 40 Cosmic_Gene C C G C C TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 23140 17 3977646 3977646 27 ALL diagnosis snv RAB11B missense A94T NM_004218 10-PAKHZT RAB11B MISSENSE SNP Somatic 12 0.444 SQHIGH 24 18 42 0 43 43 G G A G G TARGET-10-PAKHZT-03A-01D TARGET-10-PAKHZT-14A-01D 9230 19 8467013 8467013 94 ALL diagnosis snv IP6K2 missense L177P NM_001190316 10-PAKKCA IP6K2 INTRON,MISSENSE SNP Somatic -10 0.050 SQHIGH 5 16 21 1 34 35 A A G A A TARGET-10-PAKKCA-09A-01D TARGET-10-PAKKCA-14A-01D 51447 3 48732360 48732360 16 ALL diagnosis snv DOK7 splice_region V111_E4splice_region NM_173660 10-PAKKCA DOK7 ACCEPTOR SNP Somatic -3 0.090 SQHIGH 10 3 13 0 11 11 Cosmic_Gene C C T C C TARGET-10-PAKKCA-09A-01D TARGET-10-PAKKCA-14A-01D 285489 4 3478064 3478064 38 ALL diagnosis snv MUC22 missense S1269T NM_001198815 10-PAKKCA MUC22 MISSENSE SNP Somatic -3 0.090 SQHIGH 4 15 19 0 27 27 T T A T T TARGET-10-PAKKCA-09A-01D TARGET-10-PAKKCA-14A-01D 100507679 6 30997013 30997013 16 ALL diagnosis snv ROBO4 missense E469K NM_019055 10-PAKKCA ROBO4 MISSENSE SNP Somatic -2 0.100 SQHIGH 5 14 19 2 41 43 Cosmic_Gene C C T C C TARGET-10-PAKKCA-09A-01D TARGET-10-PAKKCA-14A-01D 54538 11 124763855 124763855 16 ALL diagnosis snv PTPRU missense V649G NM_133178 10-PAKKXB PTPRU MISSENSE SNP Somatic -4 0.088 SQHIGH 6 27 33 0 28 28 Cosmic_Gene T T G T T TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 10076 1 29609265 29609265 17 ALL diagnosis snv TMPRSS11F missense K418N NM_207407 10-PAKKXB TMPRSS11F MISSENSE SNP Somatic 4 0.193 SQHIGH 21 17 38 0 33 33 Cosmic_Gene T T A T T TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 389208 4 68919690 68919690 73 ALL diagnosis snv KCNQ5 missense D451N NM_019842 10-PAKKXB KCNQ5 INTRON,MISSENSE SNP Somatic PFAM:PF03520:KCNQ_channel 14 0.592 SQHIGH 14 20 34 0 53 53 Cosmic_Gene G G A G G TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 56479 6 73843247 73843247 66 ALL diagnosis snv EPB41L4B missense R416H NM_018424 10-PAKKXB EPB41L4B MISSENSE SNP Somatic PFAM:PF08736:FA 12 0.459 SQHIGH 17 27 44 1 50 51 Cosmic_Gene C C T C C TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 54566 9 112015753 112015753 55 ALL diagnosis snv PTPN6 missense I307T NM_002831 10-PAKKXB PTPN6 MISSENSE SNP Somatic -4 0.088 SQHIGH 4 13 17 0 23 23 Cosmic_Gene T T C T T TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 5777 12 7065380 7065380 16 ALL diagnosis snv TP53 missense N345I NM_000546 10-PAKKXB TP53 UTR3,MISSENSE SNP Somatic PFAM:PF07710:P53_tetramer 16 0.731 SQHIGH 20 21 41 0 48 48 Cosmic_Gene T T A T T TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 7157 17 7573993 7573993 82 ALL diagnosis snv FBF1 missense Q302L NM_001080542 10-PAKKXB FBF1 MISSENSE SNP Somatic -7 0.069 SQHIGH 3 16 19 0 36 36 T T A T T TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 85302 17 73921449 73921449 14 ALL diagnosis snv HELZ2 silent P1931P NM_001037335 10-PAKKXB PRIC285 SYNONYMOUS SNP Somatic -9 0.057 SQHIGH 8 12 20 0 12 12 Cosmic_Gene C C T C C TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 85441 20 62194382 62194382 19 ALL diagnosis snv KRTAP19-7 missense R33H NM_181614 10-PAKKXB KRTAP19-7 MISSENSE SNP dbsnp.134:rs138759843 Somatic 11 0.408 SQHIGH 8 13 21 1 22 23 C C T C C TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 337974 21 31933511 31933511 22 ALL diagnosis snv KREMEN1 silent N295N NM_032045 10-PAKKXB KREMEN1 SYNONYMOUS SNP Somatic 13 0.517 SQHIGH 24 33 57 0 53 53 Cosmic_Gene C C T C C TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 83999 22 29533583 29533583 81 ALL diagnosis snv ATRX splice D2234Y NM_000489 10-PAKKXB ATRX MISSENSE SNP Somatic -8 0.062 SQHIGH 5 23 28 0 19 19 Cosmic_Gene C C A C C TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 546 X 76778879 76778879 12 ALL diagnosis mnv CHADL missense S628_G629>RS NM_138481 10-PAKKXB CHADL MISSENSE Sub Somatic -2 0.519 SQHIGH 4 11 15 0 29 29 CA CA TC CA CA TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 150356 22 41633191 41633192 20 ALL diagnosis complex USP9X proteinDel A1386_Y1387>H NM_001039590 10-PAKKXB USP9X DELETE+ Sub Somatic 2 0.761 SQHIGH 19 11 30 0 31 31 Cosmic_Gene CGCTT CGCTT CC CGCTT CGCTT TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 8239 X 41055913 41055917 77 ALL diagnosis snv JAK1 missense S646F NM_002227 10-PAKMVD JAK1 MISSENSE SNP dbsnp.134:rs151047872 Somatic PFAM:PF07714:Pkinase_Tyr 17 0.844 SQHIGH 30 15 45 1 71 72 Cosmic_Gene G G A G G TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 3716 1 65312382 65312382 149 ALL diagnosis snv NRAS missense G12D NM_002524 10-PAKMVD NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 13 0.534 SQHIGH 20 11 31 0 44 44 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 4893 1 115258747 115258747 100 ALL diagnosis snv TBCE missense V242M NM_001287801 10-PAKMVD TBCE INTRON SNP Somatic -7 0.067 SQHIGH 5 8 13 0 15 15 G G A G G TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 6905 1 235596324 235596324 19 ALL diagnosis snv XPO1 missense E571K NM_003400 10-PAKMVD XPO1 MISSENSE SNP Somatic 17 0.844 SQHIGH 16 18 34 0 38 38 COSMIC:mut:96797 Cosmic_Gene C C T C C TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 7514 2 61719472 61719472 63 ALL diagnosis snv UGT2B4 splice_region G241_E2splice_region NM_021139 10-PAKMVD UGT2B4 ACCEPTOR SNP Somatic -30 0.005 4 35 39 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 7363 4 70359569 70359569 13 ALL diagnosis snv PCDH1 missense D745G NM_002587 10-PAKMVD PCDH1 MISSENSE SNP Somatic -16 0.029 5 26 31 0 38 38 Cosmic_Gene T T C T T TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 5097 5 141243662 141243662 18 ALL diagnosis snv SYNE1 silent T591T NM_182961 10-PAKMVD SYNE1 SYNONYMOUS SNP Somatic 8 0.300 SQHIGH 13 14 27 1 29 30 Cosmic_Gene G G A G G TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 23345 6 152786552 152786552 41 ALL diagnosis snv ABCA2 missense E1899G NM_001606 10-PAKMVD ABCA2 MISSENSE SNP Somatic -7 0.067 SQHIGH 5 6 11 1 19 20 T T C T T TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 20 9 139905962 139905962 19 ALL diagnosis snv NSMCE4A nonsense R128* NM_017615 10-PAKMVD NSMCE4A NONSENSE SNP Somatic PFAM:PF08743:Nse4 -9 0.056 SQHIGH 5 24 29 0 24 24 T T A T T TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 54780 10 123730573 123730573 14 ALL diagnosis snv EPS8 missense S494N NM_004447 10-PAKMVD EPS8 MISSENSE SNP Somatic 3 0.178 SQHIGH 11 14 25 0 25 25 Cosmic_Gene C C T C C TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 2059 12 15800148 15800148 39 ALL diagnosis snv CDH19 silent S300S NM_021153 10-PAKMVD CDH19 SYNONYMOUS SNP Somatic 3 0.178 SQHIGH 11 19 30 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 28513 18 64212016 64212016 38 ALL diagnosis snv TSPYL2 silent D426D NM_022117 10-PAKMVD TSPYL2 SYNONYMOUS SNP Somatic 20 1.000 SQHIGH 32 1 33 0 32 32 C T C TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 64061 X 53114852 53114852 170 ALL diagnosis snv NRAS missense G12D NM_002524 10-PAKMZM NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -4 0.084 SQHIGH 4 21 25 0 31 31 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 4893 1 115258747 115258747 15 ALL diagnosis snv ABCG8 splice_region K496_E10splice_region NM_022437 10-PAKMZM ABCG8 INTRON SNP Somatic -6 0.071 SQHIGH 9 8 17 0 16 16 Cosmic_Gene G G A G G TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 64241 2 44101631 44101631 32 ALL diagnosis snv IL18R1 splice M270_E8splice NM_003855 10-PAKMZM IL18R1 ACCEPTOR SNP Somatic 13 0.495 SQHIGH 15 27 42 0 45 45 Cosmic_Gene C C A C C TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 8809 2 103003318 103003318 54 ALL diagnosis snv EPHA5 missense R386K NM_004439 10-PAKMZM EPHA5 MISSENSE SNP Somatic PFAM:PF00041:fn3 16 0.713 SQHIGH 11 9 20 0 22 22 Cosmic_Gene C C T C C TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 2044 4 66356340 66356340 44 ALL diagnosis snv FAT4 missense F1175L NM_024582 10-PAKMZM FAT4 MISSENSE SNP Somatic -7 0.065 SQHIGH 5 22 27 0 20 20 Cosmic_Gene T T G T T TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 79633 4 126241091 126241091 13 ALL diagnosis snv GRIA2 missense D407E NM_000826 10-PAKMZM GRIA2 MISSENSE SNP Somatic 18 0.878 SQHIGH 14 18 32 0 33 33 Cosmic_Gene C C A C C TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 2891 4 158255227 158255227 51 ALL diagnosis snv PDZD2 silent Y1747Y NM_178140 10-PAKMZM PDZD2 SYNONYMOUS SNP dbsnp.132:rs117773834 Somatic 12 0.437 SQHIGH 17 24 41 0 54 54 Cosmic_Gene C C T C C TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 23037 5 32088795 32088795 72 ALL diagnosis snv MROH2B missense M1217V NM_173489 10-PAKMZM MROH2B MISSENSE SNP Somatic 19 0.954 SQHIGH 18 15 33 0 35 35 Cosmic_Gene T T C T T TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 133558 5 41007516 41007516 71 ALL diagnosis snv EYS silent F248F NM_001142800 10-PAKMZM EYS SYNONYMOUS SNP Somatic 7 0.250 SQHIGH 11 12 23 0 19 19 Cosmic_Gene A A G A A TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 346007 6 66204560 66204560 35 ALL diagnosis snv JAK2 missense I682F NM_004972 10-PAKMZM JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 8 0.276 SQHIGH 22 4 26 0 20 20 Cosmic_Gene A A T A A TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 3717 9 5078357 5078357 87 ALL diagnosis snv FRMPD2 silent L396L NM_001018071 10-PAKMZM FRMPD2 SYNONYMOUS SNP Somatic PFAM:PF09379:FERM_N 5 0.202 SQHIGH 36 28 64 0 68 68 Cosmic_Gene G G A G G TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 143162 10 49431296 49431296 144 ALL diagnosis snv PLCE1 missense R1107Q NM_016341 10-PAKMZM PLCE1 MISSENSE SNP Somatic 3 0.167 SQHIGH 12 8 20 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 51196 10 96013987 96013987 61 ALL diagnosis snv ANKRD2 nonsense R187* NM_020349 10-PAKMZM ANKRD2|HOGA1 NONSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF12796:Ank_2 4 0.183 SQHIGH 15 54 69 0 58 58 C C T C C TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 26287|112817 10 99340633 99340633 43 ALL diagnosis snv MMP26 silent S93S NM_021801 10-PAKMZM MMP26 SYNONYMOUS SNP dbsnp.134:rs149405690 Somatic 16 0.713 SQHIGH 20 28 48 0 48 48 G G A G G TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 56547 11 5011057 5011057 71 ALL diagnosis snv ATM silent T1100T NM_000051 10-PAKMZM ATM SYNONYMOUS SNP Somatic -3 0.092 SQHIGH 19 15 34 1 20 21 Cosmic_Gene G G A G G TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 472 11 108150233 108150233 41 ALL diagnosis snv GRIK4 missense R180W NM_014619 10-PAKMZM GRIK4 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor 15 0.639 SQHIGH 15 19 34 1 41 42 Cosmic_Gene C C T C C TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 2900 11 120702587 120702587 51 ALL diagnosis snv PRM1 missense R28Q NM_002761 10-PAKMZM PRM1|PRM2 MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs150259080 Somatic 10 0.346 SQHIGH 21 24 45 0 48 48 C C T C C TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 5619|5620 16 11375013 11375013 80 ALL diagnosis snv PHB missense A100G NM_002634 10-PAKMZM PHB MISSENSE SNP Somatic 16 0.713 SQHIGH 11 12 23 0 45 45 G G C G G TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 5245 17 47486787 47486787 61 ALL diagnosis snv EFCAB6-AS1 EXON E29_exon NM_022785 10-PAKMZM EFCAB6 INTRON SNP Somatic 5 0.202 SQHIGH 11 16 27 1 28 29 Cosmic_Gene G G A G G TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 64800 22 43931435 43931435 31 ALL diagnosis snv COL9A2 splice P228P NM_001852 10-PAKRSL COL9A2 SYNONYMOUS SNP dbsnp.134:rs147480957 Somatic 14 0.568 SQHIGH 16 22 38 1 49 50 Cosmic_Gene C C T C C TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 1298 1 40776386 40776386 57 ALL diagnosis snv NRAS missense G12D NM_002524 10-PAKRSL NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -11 0.046 5 28 33 0 46 46 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 4893 1 115258747 115258747 20 ALL diagnosis snv TRIM43B missense F9S NM_001164464 10-PAKRSL TRIM43B MISSENSE SNP Somatic -7 0.065 SQHIGH 5 19 24 0 20 20 A A G A A TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 653192 2 96148437 96148437 14 ALL diagnosis snv SEMA5A silent T206T NM_003966 10-PAKRSL SEMA5A SYNONYMOUS SNP Somatic PFAM:PF01403:Sema 9 0.307 SQHIGH 18 27 45 0 47 47 Cosmic_Gene C C T C C TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 9037 5 9224814 9224814 65 ALL diagnosis snv MEGF10 missense W66L NM_032446 10-PAKRSL MEGF10 MISSENSE SNP Somatic PFAM:PF07546:EMI -9 0.054 SQHIGH 5 11 16 0 16 16 Cosmic_Gene G G T G G TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 84466 5 126674892 126674892 17 ALL diagnosis snv EYS missense C685G NM_001142800 10-PAKRSL EYS MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 12 0.434 SQHIGH 19 23 42 0 43 43 Cosmic_Gene A A C A A TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 346007 6 65767591 65767591 70 ALL diagnosis snv FRRS1L missense V197A NM_014334 10-PAKRSL C9orf4 MISSENSE SNP Somatic 19 0.955 SQHIGH 16 11 27 0 40 40 A A G A A TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 23732 9 111909356 111909356 79 ALL diagnosis snv MRGPRE silent G16G NM_001039165 10-PAKRSL MRGPRE SYNONYMOUS SNP dbsnp.132:rs76078616 Somatic -2 0.101 SQHIGH 7 7 14 0 19 19 Cosmic_Gene G G A G G TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 116534 11 3249982 3249982 31 ALL diagnosis snv KLRC3 silent A235A NM_007333 10-PAKRSL KLRC3 SYNONYMOUS,INTRON SNP Somatic -4 0.083 SQHIGH 16 13 29 0 18 18 Cosmic_Gene C C T C C TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 3823 12 10568276 10568276 43 ALL diagnosis snv LRRIQ1 missense V628I NM_001079910 10-PAKRSL LRRIQ1 MISSENSE SNP Somatic 13 0.492 SQHIGH 20 9 29 0 22 22 Cosmic_Gene G G A G G TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 84125 12 85450453 85450453 69 ALL diagnosis snv ACACA missense R1544C NM_198834 10-PAKRSL ACACA MISSENSE SNP Somatic PFAM:PF08326:ACC_central 19 0.955 SQHIGH 17 21 38 0 40 40 Cosmic_Gene G G A G G TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 31 17 35545363 35545363 63 ALL diagnosis snv DNM2 splice L519_E14splice NM_001005360 10-PAKRSL DNM2|LOC100507081 DISRUPT,INTRON|TSS-UPSTREAM SNP Somatic 14 0.568 SQHIGH 18 30 48 0 52 52 Cosmic_Gene G G T G G TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 1785|100507081 19 10919257 10919257 66 ALL diagnosis snv FOXO4 missense R465G NM_005938 10-PAKRSL FOXO4 MISSENSE SNP Somatic 6 0.224 SQHIGH 18 45 63 1 43 44 Cosmic_Gene A A G A A TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 4303 X 70321473 70321473 37 ALL diagnosis complex DLGAP5 frameshift P197_V198fs NM_014750 10-PAKRSL DLGAP5 FRAMESHIFT Sub Somatic 4 0.910 SQHIGH 12 25 37 0 50 50 Cosmic_Gene TTACAG TTACAG TGCAGGA TTACAG TTACAG TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 9787 14 55647482 55647487 50 ALL diagnosis mnv CNTNAP4 missense V792P NM_138994 10-PAKRSL CNTNAP4 MISSENSE Sub Somatic -7 0.323 SQHIGH 7 38 45 0 44 44 Cosmic_Gene GTG GTG CCC GTG GTG TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 85445 16 76555992 76555994 22 ALL diagnosis snv PLEKHO1 splice_region V175_E5splice_region NM_016274 10-PAKTAL PLEKHO1 DONOR SNP Somatic 9 0.268 SQHIGH 21 22 43 1 49 50 Cosmic_Gene A A C A A TARGET-10-PAKTAL-09A-01D TARGET-10-PAKTAL-14A-01D 51177 1 150129683 150129683 74 ALL diagnosis snv KCNH7 missense R699H NM_033272 10-PAKTAL KCNH7 MISSENSE SNP Somatic -2 0.086 SQHIGH 29 21 50 2 44 46 Cosmic_Gene C C T C C TARGET-10-PAKTAL-09A-01D TARGET-10-PAKTAL-14A-01D 90134 2 163279904 163279904 83 ALL diagnosis snv TTN missense N2979K NM_133378 10-PAKTAL TTN MISSENSE SNP Somatic PFAM:PF00047:ig -32 0.003 4 24 28 0 32 32 Cosmic_Gene G G C G G TARGET-10-PAKTAL-09A-01D TARGET-10-PAKTAL-14A-01D 7273 2 179633626 179633626 14 ALL diagnosis snv GPC5 missense R198C NM_004466 10-PAKTAL GPC5 MISSENSE SNP Somatic PFAM:PF01153:Glypican -3 0.079 SQHIGH 22 27 49 2 46 48 Cosmic_Gene C C T C C TARGET-10-PAKTAL-09A-01D TARGET-10-PAKTAL-14A-01D 2262 13 92345707 92345707 58 ALL diagnosis snv LOC100996351 EXON E4_exon NM_002068 10-PAKTAL GNA15 INTRON SNP Somatic 17 0.808 SQHIGH 23 26 49 0 45 45 Cosmic_Gene C C G C C TARGET-10-PAKTAL-09A-01D TARGET-10-PAKTAL-14A-01D 2769 19 3155132 3155132 79 ALL diagnosis snv UGT1A9 silent L18L NM_021027 10-PAKVKK UGT1A8|UGT1A9|UGT1A10 INTRON|SYNONYMOUS|INTRON SNP Somatic -6 0.061 SQHIGH 4 17 21 0 22 22 Cosmic_Gene C C T C C TARGET-10-PAKVKK-03A-01D TARGET-10-PAKVKK-10A-01D 54576|54600|54575 2 234580632 234580632 13 ALL diagnosis snv NSMAF missense R241H NM_003580 10-PAKVKK NSMAF MISSENSE SNP Somatic PFAM:PF02893:GRAM 13 0.454 SQHIGH 17 24 41 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAKVKK-03A-01D TARGET-10-PAKVKK-10A-01D 8439 8 59520365 59520365 58 ALL diagnosis snv PAX5 missense G24R NM_016734 10-PAKVKK PAX5 MISSENSE SNP Somatic -3 0.077 SQHIGH 6 16 22 0 31 31 Cosmic_Gene C C G C C TARGET-10-PAKVKK-03A-01D TARGET-10-PAKVKK-10A-01D 5079 9 37020775 37020775 25 ALL diagnosis snv CCDC42B silent L281L NM_001144872 10-PAKVKK CCDC42B SYNONYMOUS SNP Somatic 6 0.194 SQHIGH 8 24 32 0 41 41 C C T C C TARGET-10-PAKVKK-03A-01D TARGET-10-PAKVKK-10A-01D 387885 12 113593215 113593215 31 ALL diagnosis snv AKAP6 silent G1827G NM_004274 10-PAKVKK AKAP6 SYNONYMOUS SNP Somatic -1 0.096 SQHIGH 5 41 46 0 34 34 Cosmic_Gene C C G C C TARGET-10-PAKVKK-03A-01D TARGET-10-PAKVKK-10A-01D 9472 14 33292500 33292500 12 ALL diagnosis snv RDH8 missense R52C NM_015725 10-PAKVKK RDH8|COL5A3 MISSENSE|TSS-UPSTREAM SNP Somatic 5 0.173 SQHIGH 12 20 32 1 39 40 Cosmic_Gene C C T C C TARGET-10-PAKVKK-03A-01D TARGET-10-PAKVKK-10A-01D 50700|50509 19 10124267 10124267 39 ALL diagnosis snv ILF3 missense R642Q NM_012218 10-PAKVKK ILF3 MISSENSE SNP Somatic 2 0.129 SQHIGH 18 27 45 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAKVKK-03A-01D TARGET-10-PAKVKK-10A-01D 3609 19 10794385 10794385 52 ALL diagnosis snv PRKD2 silent A683A NM_016457 10-PAKVKK PRKD2 SYNONYMOUS SNP Somatic -9 0.047 SQHIGH 5 18 23 0 21 21 Cosmic_Gene T T A T T TARGET-10-PAKVKK-03A-01D TARGET-10-PAKVKK-10A-01D 25865 19 47184928 47184928 15 ALL diagnosis snv AHRR missense P506A NM_020731 10-PAKYEP AHRR MISSENSE SNP Somatic 2 0.131 SQHIGH 9 15 24 0 23 23 Cosmic_Gene C C G C C TARGET-10-PAKYEP-09A-01D TARGET-10-PAKYEP-14A-01D 57491 5 434305 434305 30 ALL diagnosis snv KIAA0319 missense T43N NM_014809 10-PAKYEP KIAA0319 UTR5,MISSENSE SNP Somatic PFAM:PF07502:MANEC 4 0.161 SQHIGH 26 44 70 0 73 73 Cosmic_Gene G G T G G TARGET-10-PAKYEP-09A-01D TARGET-10-PAKYEP-14A-01D 9856 6 24596774 24596774 93 ALL diagnosis snv CA9 missense S319A NM_001216 10-PAKYEP CA9 MISSENSE SNP Somatic 2 0.131 SQHIGH 5 33 38 0 34 34 Cosmic_Gene T T G T T TARGET-10-PAKYEP-09A-01D TARGET-10-PAKYEP-14A-01D 768 9 35679229 35679229 14 ALL diagnosis snv UROS missense E54V NM_000375 10-PAKYEP UROS|MIR4484 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF02602:HEM4 17 0.816 SQHIGH 21 23 44 0 40 40 T T A T T TARGET-10-PAKYEP-09A-01D TARGET-10-PAKYEP-14A-01D 7390|100616327 10 127503686 127503686 72 ALL diagnosis snv SCUBE2 silent Y858Y NM_020974 10-PAKYEP SCUBE2 SYNONYMOUS SNP dbsnp.134:rs149275001 Somatic 1 0.119 SQHIGH 10 15 25 1 20 21 Cosmic_Gene G G A G G TARGET-10-PAKYEP-09A-01D TARGET-10-PAKYEP-14A-01D 57758 11 9047358 9047358 23 ALL diagnosis snv TAT missense R364W NM_000353 10-PAKYEP TAT|LOC100132529 MISSENSE|INTRON SNP Somatic 0 0.106 SQHIGH 13 19 32 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAKYEP-09A-01D TARGET-10-PAKYEP-14A-01D 6898|100132529 16 71603792 71603792 45 ALL diagnosis snv MYH7B missense R231Q NM_020884 10-PAKYEP MYH7B MISSENSE SNP Somatic 13 0.461 SQHIGH 13 18 31 0 33 33 Cosmic_Gene G G A G G TARGET-10-PAKYEP-09A-01D TARGET-10-PAKYEP-14A-01D 57644 20 33570300 33570300 48 ALL diagnosis mnv ENPP1 missense A124V NM_006208 10-PAKYEP ENPP1 MISSENSE Sub Somatic PFAM:PF01033:Somatomedin_B -7 0.321 SQHIGH 5 26 31 0 27 27 Cosmic_Gene CT CT TC CT CT TARGET-10-PAKYEP-09A-01D TARGET-10-PAKYEP-14A-01D 5167 6 132171187 132171188 14 ALL diagnosis snv TFAP2E missense R273W NM_178548 10-PALJCF TFAP2E MISSENSE SNP dbsnp.134:rs148540474 Somatic PFAM:PF03299:TF_AP-2 -6 0.064 SQHIGH 4 20 24 0 32 32 C C T C C TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 339488 1 36055562 36055562 15 ALL diagnosis snv PFDN2 missense R125C NM_012394 10-PALJCF PFDN2 MISSENSE SNP Somatic PFAM:PF02996:Prefoldin 7 0.229 SQHIGH 10 10 20 0 23 23 G G A G G TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 5202 1 161070565 161070565 40 ALL diagnosis snv FAP missense R480C NM_004460 10-PALJCF FAP MISSENSE SNP Somatic 20 1.000 SQHIGH 21 16 37 0 43 43 Cosmic_Gene G G A G G TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 2191 2 163051223 163051223 89 ALL diagnosis snv ARSJ missense P10L NM_024590 10-PALJCF ARSJ MISSENSE SNP Somatic -28 0.007 5 26 31 0 33 33 Cosmic_Gene G G A G G TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 79642 4 114899962 114899962 17 ALL diagnosis snv COL12A1 missense V2052D NM_004370 10-PALJCF COL12A1 MISSENSE SNP Somatic 0 0.111 SQHIGH 4 16 20 0 26 26 Cosmic_Gene A A T A A TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 1303 6 75839862 75839862 15 ALL diagnosis snv TRRAP missense E3107K NM_003496 10-PALJCF TRRAP MISSENSE SNP Somatic PFAM:PF02259:FAT 17 0.801 SQHIGH 24 24 48 1 66 67 Cosmic_Gene G G A G G TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 8295 7 98586392 98586392 98 ALL diagnosis snv SPATA31D1 missense P325L NM_001001670 10-PALJCF SPATA31D1 MISSENSE SNP Somatic 8 0.253 SQHIGH 21 19 40 1 39 40 C C T C C TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 389763 9 84606359 84606359 67 ALL diagnosis snv SLC37A2 missense I104V NM_198277 10-PALJCF SLC37A2 MISSENSE SNP Somatic 20 1.000 SQHIGH 17 20 37 0 44 44 Cosmic_Gene A A G A A TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 219855 11 124947420 124947420 69 ALL diagnosis snv P2RX5-TAX1BP3 EXON E4_exon NM_014604 10-PALJCF P2RX5-TAX1BP3|TAX1BP3 UTR|UTR3 SNP Somatic 17 0.801 SQHIGH 14 6 20 0 33 33 G G A G G TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 100533970|30851 17 3566561 3566561 78 ALL diagnosis snv LMTK3 missense V230L NM_001080434 10-PALJCF LMTK3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 -7 0.059 SQHIGH 4 9 13 1 26 27 Cosmic_Gene C C G C C TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 114783 19 49006210 49006210 15 ALL diagnosis snv TMC2 silent A43A NM_080751 10-PALJCF TMC2 SYNONYMOUS SNP Somatic 11 0.356 SQHIGH 21 21 42 0 32 32 Cosmic_Gene C C T C C TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 117532 20 2539148 2539148 64 ALL diagnosis snv ERG missense D363A NM_182918 10-PALJCF ERG MISSENSE SNP Somatic PFAM:PF00178:Ets 6 0.206 SQHIGH 22 69 91 0 73 73 Cosmic_Gene T T G T T TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 2078 21 39755677 39755677 62 ALL diagnosis snv PRDM2 silent A766A NM_012231 10-PALJDL PRDM2 SYNONYMOUS,INTRON SNP Somatic 15 0.581 SQHIGH 15 13 28 0 30 30 Cosmic_Gene C C T C C TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 7799 1 14106588 14106588 59 ALL diagnosis snv LRRC8C silent N552N NM_032270 10-PALJDL LRRC8C SYNONYMOUS SNP Somatic 13 0.422 SQHIGH 44 37 81 0 48 48 Cosmic_Gene C C T C C TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 84230 1 90179785 90179785 116 ALL diagnosis snv MOV10 missense R841H NM_020963 10-PALJDL MOV10 MISSENSE SNP dbsnp.132:rs116009972 Somatic 17 0.792 SQHIGH 25 17 42 0 40 40 Cosmic_Gene G G A G G TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 4343 1 113241350 113241350 95 ALL diagnosis snv ROBO1 missense G1090C NM_002941 10-PALJDL ROBO1 MISSENSE SNP Somatic 18 0.856 SQHIGH 11 12 23 0 28 28 Cosmic_Gene C C A C C TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 6091 3 78685028 78685028 45 ALL diagnosis snv PDZD2 missense A238T NM_178140 10-PALJDL PDZD2 MISSENSE SNP Somatic 17 0.792 SQHIGH 24 17 41 0 29 29 Cosmic_Gene G G A G G TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 23037 5 31983496 31983496 74 ALL diagnosis snv HECA missense P105S NM_016217 10-PALJDL HECA MISSENSE SNP Somatic 6 0.182 SQHIGH 25 20 45 0 23 23 C C T C C TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 51696 6 139487462 139487462 59 ALL diagnosis snv RUSC2 missense T799P NM_001135999 10-PALJDL RUSC2 MISSENSE SNP Somatic 1 0.110 SQHIGH 4 21 25 1 58 59 Cosmic_Gene A A C A A TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 9853 9 35555437 35555437 16 ALL diagnosis snv VCL missense A1071T NM_014000 10-PALJDL VCL MISSENSE SNP Somatic PFAM:PF01044:Vinculin 15 0.581 SQHIGH 11 26 37 0 37 37 Cosmic_Gene G G A G G TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 7414 10 75874610 75874610 37 ALL diagnosis snv OR8K1 missense A280P NM_001002907 10-PALJDL OR8K1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 19 0.938 SQHIGH 17 15 32 1 30 31 Cosmic_Gene G G C G G TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 390157 11 56114352 56114352 52 ALL diagnosis snv GUCY2C silent H400H NM_004963 10-PALJDL GUCY2C SYNONYMOUS SNP Somatic 3 0.133 SQHIGH 13 12 25 0 33 33 Cosmic_Gene G G A G G TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 2984 12 14822738 14822738 58 ALL diagnosis snv PPFIA2 missense R922Q NM_003625 10-PALJDL PPFIA2 MISSENSE,UTR SNP Somatic 11 0.322 SQHIGH 13 12 25 0 35 35 Cosmic_Gene C C T C C TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 8499 12 81688774 81688774 60 ALL diagnosis snv COL4A1 missense V883I NM_001845 10-PALJDL COL4A1 MISSENSE SNP dbsnp.127:rs41275090 Somatic 7 0.203 SQHIGH 23 28 51 0 32 32 Cosmic_Gene C C T C C TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 1282 13 110830258 110830258 60 ALL diagnosis snv CGNL1 missense A1027V NM_032866 10-PALJDL CGNL1 MISSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 10 0.286 SQHIGH 23 32 55 0 60 60 Cosmic_Gene C C T C C TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 84952 15 57820892 57820892 87 ALL diagnosis snv WDR45B missense D341N NM_019613 10-PALJDL WDR45L MISSENSE SNP Somatic 20 0.996 SQHIGH 20 15 35 1 45 46 Cosmic_Gene C C T C C TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 56270 17 80573809 80573809 80 ALL diagnosis snv TAF4B missense A420G NM_005640 10-PALJDL TAF4B MISSENSE SNP Somatic 7 0.203 SQHIGH 6 17 23 1 26 27 Cosmic_Gene C C G C C TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 6875 18 23866132 23866132 15 ALL diagnosis complex IL7R proteinIns L242>LPGGL NM_002185 10-PALJDL IL7R INSERT+ Sub Somatic 2 0.741 SQHIGH 52 43 95 0 74 74 Cosmic_Gene TA TA TCCCGGGGGTCTGC TA TA TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 3575 5 35874569 35874570 168 ALL diagnosis complex ZNF468 frameshift A120fs NM_001008801 10-PALJDL ZNF468 FRAMESHIFT Sub Somatic 0 0.586 SQHIGH 17 26 43 0 61 61 Cosmic_Gene CA CA CGGG CA CA TARGET-10-PALJDL-09A-01D TARGET-10-PALJDL-14A-01D 90333 19 53345186 53345187 75 ALL diagnosis snv KCNQ4 missense R645H NM_004700 10-PALKTY KCNQ4 MISSENSE SNP Somatic PFAM:PF03520:KCNQ_channel -6 0.059 SQHIGH 11 3 14 0 14 14 Cosmic_Gene G G A G G TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 9132 1 41304041 41304041 48 ALL diagnosis snv PPIG missense A162T NM_004792 10-PALKTY PPIG MISSENSE SNP Somatic 4 0.151 SQHIGH 9 15 24 0 27 27 Cosmic_Gene G G A G G TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 9360 2 170471171 170471171 34 ALL diagnosis snv FZD7 missense V529I NM_003507 10-PALKTY FZD7 MISSENSE SNP Somatic PFAM:PF01534:Frizzled 11 0.332 SQHIGH 16 20 36 0 29 29 Cosmic_Gene G G A G G TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 8324 2 202900955 202900955 49 ALL diagnosis snv BTC missense P49A NM_001729 10-PALKTY BTC MISSENSE SNP Somatic 3 0.136 SQHIGH 7 28 35 0 35 35 Cosmic_Gene G G C G G TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 685 4 75695286 75695286 23 ALL diagnosis snv FBXL7 nonsense R202* NM_012304 10-PALKTY FBXL7 NONSENSE SNP Somatic 13 0.436 SQHIGH 15 11 26 0 33 33 Cosmic_Gene C C T C C TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 23194 5 15928475 15928475 67 ALL diagnosis snv GPR98 missense S5432C NM_032119 10-PALKTY GPR98 MISSENSE,UTR SNP Somatic 14 0.511 SQHIGH 24 22 46 0 35 35 Cosmic_Gene C C G C C TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 84059 5 90119340 90119340 75 ALL diagnosis snv TRIM41 silent S522S NM_033549 10-PALKTY TRIM41 SYNONYMOUS,INTRON SNP Somatic -2 0.083 SQHIGH 12 15 27 0 23 23 C C T C C TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 90933 5 180661448 180661448 38 ALL diagnosis snv ZC3HAV1 nonsense C513* NM_020119 10-PALKTY ZC3HAV1 NONSENSE SNP Somatic 15 0.592 SQHIGH 27 26 53 0 61 61 Cosmic_Gene A A T A A TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 56829 7 138763332 138763332 111 ALL diagnosis snv CACNA1C missense R895C NM_199460 10-PALKTY CACNA1C MISSENSE SNP Somatic 16 0.673 SQHIGH 24 26 50 0 39 39 Cosmic_Gene C C T C C TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 775 12 2705059 2705059 74 ALL diagnosis snv EFNB2 silent G188G NM_004093 10-PALKTY EFNB2 SYNONYMOUS SNP Somatic 16 0.673 SQHIGH 19 24 43 0 38 38 Cosmic_Gene A A G A A TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 1948 13 107147278 107147278 63 ALL diagnosis snv MYH13 silent D721D NM_003802 10-PALKTY MYH13 SYNONYMOUS SNP Somatic 17 0.798 SQHIGH 32 30 62 0 59 59 Cosmic_Gene G G A G G TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 8735 17 10236402 10236402 116 ALL diagnosis snv ZNF652 silent V567V NM_001145365 10-PALKTY ZNF652 SYNONYMOUS SNP Somatic -6 0.059 SQHIGH 6 27 33 0 28 28 Cosmic_Gene G G A G G TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 22834 17 47375895 47375895 17 ALL diagnosis snv BACH1 silent S722S NM_206866 10-PALKTY BACH1 SYNONYMOUS,INTRON SNP Somatic -9 0.046 SQHIGH 5 21 26 0 27 27 Cosmic_Gene A A G A A TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 571 21 30715109 30715109 16 ALL diagnosis complex PIK3CD frameshift F698fs NM_005026 10-PALKTY PIK3CD FRAMESHIFT Sub Somatic 1 0.664 SQHIGH 37 30 67 0 38 38 Cosmic_Gene CTT CTT CCCCAGGC CTT CTT TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 5293 1 9782068 9782070 95 ALL diagnosis complex TYW5 frameshift N313_E315fs NM_001039693 10-PALKTY TYW5 FRAMESHIFT,UTR Sub Somatic -2 0.492 SQHIGH 19 32 51 0 39 39 CTCAGAGTT CTCAGAGTT CGGG CTCAGAGTT CTCAGAGTT TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 129450 2 200797793 200797801 55 ALL diagnosis complex JAK2 proteinIns I682>AQG NM_004972 10-PALKTY JAK2 INSERT+ Sub Somatic PFAM:PF07714:Pkinase_Tyr -2 0.492 SQHIGH 25 24 49 0 37 37 Cosmic_Gene TATC TATC TGCCCAGGGA TATC TATC TARGET-10-PALKTY-03A-01D TARGET-10-PALKTY-14A-01D 3717 9 5078356 5078359 77 ALL diagnosis snv SOX13 missense R507Q NM_005686 10-PALLSD SOX13 MISSENSE SNP Somatic -1 0.095 SQHIGH 8 17 25 1 22 23 Cosmic_Gene G G A G G TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 9580 1 204093913 204093913 18 ALL diagnosis snv CDC42BPA missense A568T NM_003607 10-PALLSD CDC42BPA INTRON,MISSENSE SNP Somatic -3 0.078 SQHIGH 4 4 8 0 15 15 Cosmic_Gene C C T C C TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 8476 1 227300560 227300560 21 ALL diagnosis snv FAM132B silent L282L NM_001291832 10-PALLSD FAM132B SYNONYMOUS SNP Somatic -6 0.062 SQHIGH 3 8 11 0 18 18 G G A G G TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 151176 2 239072960 239072960 13 ALL diagnosis snv YTHDC2 missense E1372Q NM_022828 10-PALLSD YTHDC2 MISSENSE SNP Somatic PFAM:PF04146:YTH 12 0.385 SQHIGH 24 20 44 0 52 52 Cosmic_Gene G G C G G TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 64848 5 112927777 112927777 102 ALL diagnosis snv DNAH11 missense V836G NM_001277115 10-PALLSD DNAH11 MISSENSE SNP Somatic -4 0.072 SQHIGH 5 16 21 0 15 15 Cosmic_Gene T T G T T TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 8701 7 21631035 21631035 13 ALL diagnosis snv JAK2 missense R683G NM_004972 10-PALLSD JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 7 0.213 SQHIGH 12 23 35 0 32 32 COSMIC:mut:29300 Cosmic_Gene A A G A A TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 3717 9 5078360 5078360 39 ALL diagnosis snv JAK2 missense R683S NM_004972 10-PALLSD JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 0 0.105 SQHIGH 5 29 36 0 34 34 COSMIC:mut:29302 Cosmic_Gene A A T A A TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 3717 9 5078362 5078362 16 ALL diagnosis snv GARNL3 missense R35H NM_032293 10-PALLSD GARNL3 MISSENSE SNP Somatic 17 0.804 SQHIGH 12 14 26 0 26 26 Cosmic_Gene G G A G G TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 84253 9 130027260 130027260 43 ALL diagnosis snv ANK3 silent D3340D NM_020987 10-PALLSD ANK3 SYNONYMOUS,INTRON SNP Somatic 19 0.943 SQHIGH 15 22 37 0 43 43 Cosmic_Gene G G A G G TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 288 10 61830619 61830619 59 ALL diagnosis snv TACC2 silent A1064A NM_206862 10-PALLSD TACC2 SYNONYMOUS,INTRON SNP Somatic -1 0.095 SQHIGH 13 11 24 0 24 24 Cosmic_Gene G G A G G TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 10579 10 123845207 123845207 49 ALL diagnosis snv FREM2 missense R2167Q NM_207361 10-PALLSD FREM2 MISSENSE SNP Somatic PFAM:PF03160:Calx-beta 7 0.213 SQHIGH 15 20 35 0 32 32 Cosmic_Gene G G A G G TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 341640 13 39424295 39424295 50 ALL diagnosis snv PAPLN missense A291V NM_173462 10-PALLSD PAPLN MISSENSE SNP Somatic 12 0.385 SQHIGH 9 9 18 0 20 20 Cosmic_Gene C C T C C TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 89932 14 73718835 73718835 35 ALL diagnosis snv MFSD6L missense A442T NM_152599 10-PALLSD MFSD6L MISSENSE SNP Somatic -7 0.056 SQHIGH 6 14 20 0 15 15 Cosmic_Gene C C T C C TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 162387 17 8701115 8701115 16 ALL diagnosis snv MUC16 missense R13865H NM_024690 10-PALLSD MUC16 MISSENSE SNP Somatic PFAM:PF01390:SEA 14 0.518 SQHIGH 23 27 50 0 59 59 Cosmic_Gene C C T C C TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 94025 19 8993495 8993495 93 ALL diagnosis snv CXCR3 missense D195E NM_001504 10-PALLSD CXCR3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.213 SQHIGH 7 2 9 0 7 7 Cosmic_Gene G C G TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 2833 X 70836737 70836737 25 ALL diagnosis snv SEPT2 missense A108T NM_001008491 10-PALNTB SEPT2 MISSENSE SNP Somatic PFAM:PF00735:Septin -19 0.016 3 19 22 0 42 42 Cosmic_Gene G G A G G TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 4735 2 242275494 242275494 14 ALL diagnosis snv PPP2R3A missense R23H NM_002718 10-PALNTB PPP2R3A INTRON,MISSENSE SNP Somatic 7 0.212 SQHIGH 14 13 27 0 22 22 Cosmic_Gene G G A G G TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 5523 3 135720408 135720408 45 ALL diagnosis snv FNDC3B silent P152P NM_022763 10-PALNTB FNDC3B SYNONYMOUS SNP Somatic 13 0.439 SQHIGH 17 24 41 0 43 43 Cosmic_Gene G G A G G TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 64778 3 171965514 171965514 62 ALL diagnosis snv SEC24D silent L959L NM_014822 10-PALNTB SEC24D SYNONYMOUS SNP Somatic PFAM:PF00626:Gelsolin 13 0.439 SQHIGH 13 23 36 0 39 39 C C A C C TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 9871 4 119649797 119649797 47 ALL diagnosis snv TENM2 missense C1502R NM_001122679 10-PALNTB TENM2 MISSENSE SNP Somatic 11 0.335 SQHIGH 17 22 39 0 47 47 Cosmic_Gene T T C T T TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 57451 5 167645427 167645427 69 ALL diagnosis snv JAK2 missense P933R NM_004972 10-PALNTB JAK2 MISSENSE SNP Somatic 6 0.190 SQHIGH 6 18 24 0 26 26 Cosmic_Gene C C G C C TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 3717 9 5090482 5090482 21 ALL diagnosis snv HK1 nonsense R307* NM_000188 10-PALNTB HK1 NONSENSE SNP Somatic PFAM:PF03727:Hexokinase_2 17 0.803 SQHIGH 16 20 36 0 25 25 Cosmic_Gene C C T C C TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 3098 10 71136733 71136733 44 ALL diagnosis snv PHRF1 missense S1166N NM_020901 10-PALNTB PHRF1 MISSENSE SNP Somatic 1 0.113 SQHIGH 11 29 40 0 28 28 G G A G G TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 57661 11 608956 608956 28 ALL diagnosis snv AHNAK missense V3181I NM_001620 10-PALNTB AHNAK INTRON,MISSENSE SNP Somatic 2 0.125 SQHIGH 19 26 45 0 32 32 Cosmic_Gene C C T C C TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 79026 11 62292348 62292348 53 ALL diagnosis snv DYNC2H1 silent P2060P NM_001377 10-PALNTB DYNC2H1 SYNONYMOUS SNP Somatic -6 0.059 SQHIGH 4 15 19 0 21 21 T T A T T TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 79659 11 103049795 103049795 14 ALL diagnosis snv KRAS missense G12V NM_033360 10-PALNTB KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 13 0.439 SQHIGH 9 24 33 0 27 27 COSMIC:mut:520 Cosmic_Gene C C A C C TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 3845 12 25398284 25398284 26 ALL diagnosis snv PPM1H silent P308P NM_020700 10-PALNTB PPM1H SYNONYMOUS SNP Somatic -6 0.059 SQHIGH 5 17 22 0 34 34 Cosmic_Gene G G A G G TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 57460 12 63131312 63131312 22 ALL diagnosis snv METTL25 missense K271N NM_032230 10-PALNTB C12orf26 MISSENSE SNP Somatic 2 0.125 SQHIGH 21 16 37 0 15 15 G G C G G TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 84190 12 82792855 82792855 42 ALL diagnosis snv LARP6 silent G292G NM_018357 10-PALNTB LARP6 SYNONYMOUS SNP Somatic 17 0.803 SQHIGH 19 26 45 0 46 46 A A T A A TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 55323 15 71124991 71124991 69 ALL diagnosis snv ARHGAP44 silent T816T NM_014859 10-PALNTB ARHGAP44 SYNONYMOUS SNP Somatic 4 0.151 SQHIGH 23 53 76 1 58 59 Cosmic_Gene C C T C C TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 9912 17 12893479 12893479 54 ALL diagnosis snv FCHO1 missense E855K NM_001161357 10-PALNTB FCHO1 MISSENSE SNP Somatic PFAM:PF10291:muHD 5 0.168 SQHIGH 12 8 20 0 17 17 Cosmic_Gene G G A G G TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 23149 19 17898571 17898571 42 ALL diagnosis snv SUPT5H missense Q985H NM_003169 10-PALNTB SUPT5H MISSENSE SNP Somatic -6 0.059 SQHIGH 17 20 37 0 26 26 Cosmic_Gene G G T G G TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 6829 19 39965289 39965289 48 ALL diagnosis snv GABRA3 nonsense R83* NM_000808 10-PALNTB GABRA3 NONSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 17 0.803 SQHIGH 29 18 47 0 30 30 Cosmic_Gene G G A G G TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 2556 X 151514068 151514068 85 ALL diagnosis snv PSEN2 missense P28L NM_000447 10-PALTWS PSEN2 MISSENSE SNP Somatic 5 0.158 SQHIGH 15 13 28 0 26 26 Cosmic_Gene C C T C C TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 5664 1 227069691 227069691 54 ALL diagnosis snv PROM2 missense V211M NM_001165978 10-PALTWS PROM2 MISSENSE SNP Somatic PFAM:PF05478:Prominin 16 0.671 SQHIGH 19 21 40 0 27 27 Cosmic_Gene G G A G G TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 150696 2 95942354 95942354 53 ALL diagnosis snv ADAMTS9 missense P1543L NM_182920 10-PALTWS ADAMTS9-AS1|ADAMTS9 TSS-UPSTREAM|MISSENSE SNP Somatic 6 0.178 SQHIGH 7 13 20 0 23 23 Cosmic_Gene G G A G G TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 100507082|56999 3 64547324 64547324 26 ALL diagnosis snv DOCK4 silent H1364H NM_014705 10-PALTWS DOCK4 SYNONYMOUS SNP Somatic 17 0.805 SQHIGH 21 22 43 0 40 40 Cosmic_Gene G G A G G TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 9732 7 111400280 111400280 74 ALL diagnosis snv RP1 missense R151H NM_006269 10-PALTWS RP1 MISSENSE SNP Somatic -2 0.080 SQHIGH 15 24 39 0 33 33 Cosmic_Gene G G A G G TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 6101 8 55533978 55533978 47 ALL diagnosis snv DIP2C silent G145G NM_014974 10-PALTWS DIP2C SYNONYMOUS SNP Somatic 16 0.671 SQHIGH 30 21 51 0 44 44 Cosmic_Gene C C A C C TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 22982 10 468933 468933 106 ALL diagnosis snv YAP1 silent P435P NM_001130145 10-PALTWS YAP1 SYNONYMOUS SNP Somatic -4 0.067 SQHIGH 5 44 49 0 37 37 Cosmic_Gene C C T C C TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 10413 11 102100461 102100461 13 ALL diagnosis snv KRAS missense G12A NM_033360 10-PALTWS KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 18 0.861 SQHIGH 13 18 31 0 37 37 COSMIC:mut:522 Cosmic_Gene C C G C C TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 3845 12 25398284 25398284 52 ALL diagnosis snv MAGEL2 silent P225P NM_019066 10-PALTWS MAGEL2 SYNONYMOUS SNP Somatic 15 0.589 SQHIGH 23 25 48 0 35 35 C C T C C TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 54551 15 23892215 23892215 68 ALL diagnosis mnv AARS2 missense S745_V746>SM NM_020745 10-PALTWS AARS2 MISSENSE Sub Somatic PFAM:PF07973:tRNA_SAD -9 0.279 SQHIGH 6 29 35 0 33 33 Cosmic_Gene CA CA TT CA CA TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 57505 6 44270822 44270823 18 ALL diagnosis mnv KSR2 missense T496P NM_173598 10-PALTWS KSR2 MISSENSE Sub Somatic -6 0.331 SQHIGH 4 19 23 0 26 26 Cosmic_Gene CGT CGT GGG CGT CGT TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 283455 12 117977636 117977638 14 ALL diagnosis snv MARCO splice_region G355_E12splice_region NM_006770 10-PAMDKS MARCO INTRON SNP Somatic -9 0.046 SQHIGH 6 54 60 0 57 57 Cosmic_Gene G G A G G TARGET-10-PAMDKS-09A-01D TARGET-10-PAMDKS-14A-01D 8685 2 119739996 119739996 18 ALL diagnosis snv RFX3 silent Q37Q NM_002919 10-PAMDKS RFX3 SYNONYMOUS SNP Somatic PFAM:PF04589:RFX1_trans_act 7 0.203 SQHIGH 5 14 19 0 20 20 Cosmic_Gene T T C T T TARGET-10-PAMDKS-09A-01D TARGET-10-PAMDKS-14A-01D 5991 9 3395478 3395478 17 ALL diagnosis snv MGST1 missense S133G NM_145792 10-PAMDKS MGST1 MISSENSE SNP Somatic PFAM:PF01124:MAPEG -6 0.059 SQHIGH 8 21 29 2 40 42 A A G A A TARGET-10-PAMDKS-09A-01D TARGET-10-PAMDKS-14A-01D 4257 12 16516904 16516904 20 ALL diagnosis snv BHLHE41 missense Q125P NM_030762 10-PAMDKS BHLHE41 MISSENSE SNP Somatic -7 0.055 SQHIGH 5 35 40 0 39 39 T T G T T TARGET-10-PAMDKS-09A-01D TARGET-10-PAMDKS-14A-01D 79365 12 26276074 26276074 15 ALL diagnosis snv CHI3L1 silent L380L NM_001276 10-PAMDRM MYBPH|CHI3L1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 4 0.153 SQHIGH 22 28 50 0 32 32 Cosmic_Gene G G A G G TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 4608|1116 1 203148585 203148585 58 ALL diagnosis snv LGALS8 missense V106M NM_006499 10-PAMDRM LGALS8 MISSENSE SNP Somatic 6 0.190 SQHIGH 18 33 51 0 42 42 Cosmic_Gene G G A G G TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 3964 1 236702360 236702360 54 ALL diagnosis snv CNTNAP5 missense G98R NM_130773 10-PAMDRM CNTNAP5 MISSENSE SNP Somatic 6 0.190 SQHIGH 13 15 28 0 18 18 Cosmic_Gene G G A G G TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 129684 2 124999881 124999881 34 ALL diagnosis snv PTPRN missense S172F NM_002846 10-PAMDRM PTPRN MISSENSE SNP Somatic 7 0.212 SQHIGH 10 16 26 0 22 22 Cosmic_Gene G G A G G TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 5798 2 220167422 220167422 31 ALL diagnosis snv TRIML1 silent S302S NM_178556 10-PAMDRM TRIML1 SYNONYMOUS SNP Somatic 7 0.212 SQHIGH 13 36 49 0 43 43 Cosmic_Gene G G A G G TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 339976 4 189068025 189068025 39 ALL diagnosis snv GFRA3 silent S81S NM_001496 10-PAMDRM GFRA3 SYNONYMOUS SNP dbsnp.134:rs143061950 Somatic PFAM:PF02351:GDNF -7 0.054 SQHIGH 8 10 18 0 10 10 Cosmic_Gene C C T C C TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 2676 5 137600086 137600086 19 ALL diagnosis snv ABHD16A missense T195P NM_021160 10-PAMDRM ABHD16A MISSENSE,UTR SNP Somatic 0 0.102 SQHIGH 4 12 16 1 29 30 Cosmic_Gene T T G T T TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 7920 6 31660847 31660847 14 ALL diagnosis snv AHCYL2 silent D294D NM_015328 10-PAMDRM AHCYL2 SYNONYMOUS SNP Somatic 18 0.873 SQHIGH 21 18 39 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 23382 7 129040189 129040189 75 ALL diagnosis snv ARHGAP39 silent S426S NM_025251 10-PAMDRM ARHGAP39 SYNONYMOUS SNP Somatic -4 0.069 SQHIGH 8 4 12 0 10 10 C C T C C TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 80728 8 145773192 145773192 28 ALL diagnosis snv SHANK2 missense R1172C NM_133266 10-PAMDRM SHANK2 MISSENSE SNP Somatic 9 0.265 SQHIGH 13 32 45 1 34 35 Cosmic_Gene G G A G G TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 22941 11 70319246 70319246 27 ALL diagnosis snv ABCC9 missense W1419L NM_005691 10-PAMDRM ABCC9 MISSENSE SNP Somatic 8 0.237 SQHIGH 9 10 19 0 13 13 Cosmic_Gene C C A C C TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 10060 12 21962845 21962845 25 ALL diagnosis snv TROAP missense G697S NM_005480 10-PAMDRM TROAP MISSENSE SNP Somatic 12 0.388 SQHIGH 22 18 40 0 21 21 Cosmic_Gene G G A G G TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 10024 12 49724717 49724717 53 ALL diagnosis snv LRRC16B missense R912C NM_138360 10-PAMDRM LRRC16B MISSENSE SNP Somatic 10 0.300 SQHIGH 23 26 49 1 37 38 Cosmic_Gene C C T C C TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 90668 14 24532356 24532356 59 ALL diagnosis snv PAPLN missense G493R NM_173462 10-PAMDRM PAPLN MISSENSE SNP Somatic 13 0.446 SQHIGH 19 23 42 0 38 38 Cosmic_Gene G G A G G TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 89932 14 73721657 73721657 64 ALL diagnosis snv KIAA1024 missense R113C NM_015206 10-PAMDRM KIAA1024 MISSENSE SNP Somatic 12 0.388 SQHIGH 26 35 61 0 59 59 Cosmic_Gene C C T C C TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 23251 15 79748826 79748826 91 ALL diagnosis snv LPO missense A268V NM_006151 10-PAMDRM LPO MISSENSE,UTR SNP Somatic 10 0.300 SQHIGH 31 25 56 0 49 49 Cosmic_Gene C C T C C TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 4025 17 56329565 56329565 109 ALL diagnosis snv FERMT1 missense W393C NM_017671 10-PAMDRM FERMT1 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 10 0.300 SQHIGH 19 25 44 1 49 50 Cosmic_Gene C C A C C TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 55612 20 6069697 6069697 63 ALL diagnosis mnv TMED6 missense D157_T158>AP NM_144676 10-PAMDRM TMED6 MISSENSE Sub Somatic PFAM:PF01105:EMP24_GP25L 1 0.670 SQHIGH 25 27 52 1 62 63 Cosmic_Gene TAT TAT GAG TAT TAT TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 146456 16 69381708 69381710 92 ALL diagnosis snv SKI silent A583A NM_003036 10-PAMKZB SKI SYNONYMOUS SNP Somatic PFAM:PF03114:BAR 11 0.337 SQHIGH 12 19 31 0 27 27 Cosmic_Gene C C T C C TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 6497 1 2236006 2236006 38 ALL diagnosis snv ZNF670 missense E76D NM_033213 10-PAMKZB ZNF670-ZNF695|ZNF670 INTRON|MISSENSE SNP Somatic -1 0.103 SQHIGH 9 44 53 0 42 42 Cosmic_Gene T T G T T TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 100533111|93474 1 247201693 247201693 24 ALL diagnosis snv WDR48 silent Y568Y NM_020839 10-PAMKZB WDR48 SYNONYMOUS SNP Somatic PFAM:PF11816:DUF3337 2 0.126 SQHIGH 4 18 22 0 39 39 Cosmic_Gene C C T C C TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 57599 3 39133151 39133151 19 ALL diagnosis snv LARP1B silent P383P NM_018078 10-PAMKZB LARP1B SYNONYMOUS SNP Somatic 16 0.720 SQHIGH 23 5 28 0 39 39 A A G A A TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 55132 4 129035885 129035885 127 ALL diagnosis snv KIF20A missense Q446E NM_005733 10-PAMKZB KIF20A MISSENSE SNP Somatic -4 0.089 SQHIGH 5 35 40 0 35 35 C C G C C TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 10112 5 137519778 137519778 14 ALL diagnosis snv MUC17 missense M3174T NM_001040105 10-PAMKZB MUC17 MISSENSE SNP dbsnp.134:rs140193111 Somatic -1 0.103 SQHIGH 5 23 28 1 40 41 Cosmic_Gene T T C T T TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 140453 7 100684218 100684218 14 ALL diagnosis snv TRIM22 missense I253V NM_006074 10-PAMKZB TRIM22 MISSENSE SNP Somatic -25 0.017 3 13 16 0 28 28 A A G A A TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 10346 11 5727830 5727830 14 ALL diagnosis snv KDM5A silent K1563K NM_001042603 10-PAMKZB KDM5A SYNONYMOUS SNP Somatic -4 0.089 SQHIGH 4 26 30 0 36 36 Cosmic_Gene T T C T T TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 5927 12 402102 402102 14 ALL diagnosis snv LOC101928731 EXON E2_exon NM_003805 10-PAMKZB CRADD INTRON SNP Somatic -10 0.064 SQHIGH 4 11 15 0 32 32 Cosmic_Gene G G T G G TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 8738 12 94102667 94102667 21 ALL diagnosis snv LTBP2 missense R113G NM_000428 10-PAMKZB LTBP2 MISSENSE SNP Somatic -8 0.072 SQHIGH 16 7 23 0 7 7 Cosmic_Gene G G C G G TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 4053 14 75078311 75078311 28 ALL diagnosis snv RAB40C missense G5D NM_021168 10-PAMKZB RAB40C MISSENSE SNP Somatic -5 0.084 SQHIGH 3 7 10 0 19 19 G G A G G TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 57799 16 640305 640305 15 ALL diagnosis snv TP53 nonsense R306* NM_000546 10-PAMKZB TP53 NONSENSE SNP dbsnp.133:rs121913344 Somatic 12 0.378 SQHIGH 19 4 23 0 29 29 COSMIC:mut:99947,COSMIC:mut:10663 Cosmic_Gene G G A G G TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 7157 17 7577022 7577022 99 ALL diagnosis snv ZNF549 missense A4T NM_153263 10-PAMKZB ZNF549 MISSENSE SNP Somatic 15 0.634 SQHIGH 29 21 51 0 40 40 Cosmic_Gene G G A G G TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 256051 19 58038951 58038951 97 ALL diagnosis snv PCK1 missense R225H NM_002591 10-PAMKZB PCK1 MISSENSE SNP Somatic PFAM:PF00821:PEPCK 7 0.202 SQHIGH 8 27 35 2 41 43 Cosmic_Gene G G A G G TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 5105 20 56138147 56138147 17 ALL diagnosis mnv FDXR splice L170_E6splice NM_024417 10-PAMKZB FDXR DISRUPT Sub Somatic -4 0.404 SQHIGH 5 33 38 1 60 61 CTG CTG ACT CTG CTG TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 2232 17 72861943 72861945 15 ALL diagnosis snv DPYD missense W751L NM_000110 10-PANSFD DPYD MISSENSE SNP Somatic -6 0.068 SQHIGH 5 34 39 0 30 30 Cosmic_Gene C C A C C TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 1806 1 97770862 97770862 13 ALL diagnosis snv NEK4 silent T134T NM_003157 10-PANSFD NEK4 SYNONYMOUS SNP Somatic PFAM:PF03109:ABC1 -6 0.068 SQHIGH 8 27 35 2 57 59 Cosmic_Gene A A G A A TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 6787 3 52800350 52800350 23 ALL diagnosis snv TP63 silent E678E NM_003722 10-PANSFD TP63 UTR3,SYNONYMOUS SNP dbsnp.134:rs140508531 Somatic 1 0.127 SQHIGH 13 19 32 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 8626 3 189612282 189612282 44 ALL diagnosis snv GLRA1 missense T190M NM_001146040 10-PANSFD GLRA1 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 13 0.468 SQHIGH 16 27 43 0 37 37 Cosmic_Gene G G A G G TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 2741 5 151234729 151234729 50 ALL diagnosis snv GNL1 missense K239T NM_005275 10-PANSFD PRR3|GNL1 TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.231 SQHIGH 18 33 51 0 53 53 Cosmic_Gene T T G T T TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 80742|2794 6 30521219 30521219 64 ALL diagnosis snv KIAA1586 missense S681P NM_020931 10-PANSFD KIAA1586 MISSENSE SNP Somatic -5 0.073 SQHIGH 6 13 19 0 35 35 T T C T T TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 57691 6 56919338 56919338 30 ALL diagnosis snv MCHR2 missense A324V NM_001040179 10-PANSFD MCHR2 MISSENSE SNP Somatic 9 0.287 SQHIGH 12 31 43 0 69 69 Cosmic_Gene G G A G G TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 84539 6 100368868 100368868 55 ALL diagnosis snv DMTN missense R268H NM_001978 10-PANSFD DMTN MISSENSE SNP Somatic 1 0.127 SQHIGH 9 37 46 0 47 47 Cosmic_Gene G G A G G TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 2039 8 21931314 21931314 29 ALL diagnosis snv CACNB2 silent L352L NM_000724 10-PANSFD CACNB2 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 8 0.258 SQHIGH 8 16 24 0 38 38 Cosmic_Gene T T C T T TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 783 10 18825042 18825042 37 ALL diagnosis snv MMP21 missense D558G NM_147191 10-PANSFD MMP21 MISSENSE SNP Somatic -6 0.068 SQHIGH 6 23 29 1 41 42 Cosmic_Gene T T C T T TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 118856 10 127455268 127455268 18 ALL diagnosis snv TMEM132C missense R253H NM_001136103 10-PANSFD TMEM132C MISSENSE SNP Somatic 11 0.361 SQHIGH 16 29 45 1 47 48 Cosmic_Gene G G A G G TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 92293 12 128899949 128899949 47 ALL diagnosis snv LATS2 missense D800E NM_014572 10-PANSFD LATS2 MISSENSE SNP Somatic 7 0.231 SQHIGH 18 33 51 0 38 38 Cosmic_Gene A A T A A TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 26524 13 21557445 21557445 50 ALL diagnosis snv PROZ missense E266Q NM_003891 10-PANSFD PROZ MISSENSE SNP Somatic PFAM:PF00089:Trypsin 4 0.170 SQHIGH 9 16 25 0 17 17 G G C G G TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 8858 13 113826012 113826012 23 ALL diagnosis snv PWP2 nonsense R911* NM_005049 10-PANSFD PWP2|C21orf33 NONSENSE|TSS-UPSTREAM SNP Somatic -3 0.087 SQHIGH 5 28 33 0 27 27 Cosmic_Gene A A T A A TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 5822|8209 21 45550624 45550624 14 ALL diagnosis snv TCEAL2 missense N14S NM_080390 10-PANSFD TCEAL2 MISSENSE SNP Somatic 18 0.871 SQHIGH 19 11 30 0 30 30 A G A TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 140597 X 101381843 101381843 76 ALL diagnosis snv CT47B1 missense A194V NM_001145718 10-PANSFD CT47B1 MISSENSE SNP Somatic 7 0.231 SQHIGH 7 1 8 0 9 9 G A G TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 643311 X 120008944 120008944 34 ALL diagnosis mnv GCN1L1 missense L2431V NM_006836 10-PANSFD GCN1L1 MISSENSE Sub Somatic -9 0.290 SQHIGH 4 25 29 0 41 41 Cosmic_Gene CAG CAG GAC CAG CAG TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 10985 12 120572119 120572121 16 ALL diagnosis snv DPYSL5 missense R220H NM_020134 10-PANWJB DPYSL5 MISSENSE SNP dbsnp.134:rs147057600 Somatic 10 0.319 SQHIGH 9 28 37 0 38 38 Cosmic_Gene G G A G G TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 56896 2 27151181 27151181 30 ALL diagnosis snv KIAA1841 silent G563G NM_001129993 10-PANWJB KIAA1841 SYNONYMOUS SNP Somatic 17 0.809 SQHIGH 10 19 29 0 26 26 A A T A A TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 84542 2 61336376 61336376 32 ALL diagnosis snv CCDC158 missense S855P NM_001042784 10-PANWJB CCDC158 MISSENSE SNP Somatic -4 0.079 SQHIGH 6 25 31 0 25 25 Cosmic_Gene A A G A A TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 339965 4 77272250 77272250 16 ALL diagnosis snv FRAS1 missense R3069C NM_025074 10-PANWJB FRAS1 MISSENSE SNP Somatic PFAM:PF03160:Calx-beta 7 0.228 SQHIGH 13 23 36 0 34 34 Cosmic_Gene C C T C C TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 80144 4 79420964 79420964 43 ALL diagnosis snv TFAP2B silent F65F NM_003221 10-PANWJB TFAP2B SYNONYMOUS SNP Somatic -6 0.067 SQHIGH 9 28 37 1 28 29 C C T C C TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 7021 6 50791233 50791233 17 ALL diagnosis snv ARC missense S260T NM_015193 10-PANWJB ARC MISSENSE SNP Somatic 13 0.465 SQHIGH 10 26 36 1 34 35 Cosmic_Gene A A T A A TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 23237 8 143694855 143694855 24 ALL diagnosis snv KCNT1 silent P1002P NM_020822 10-PANWJB KCNT1 SYNONYMOUS SNP Somatic 16 0.693 SQHIGH 21 10 31 0 30 30 Cosmic_Gene G G A G G TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 57582 9 138676443 138676443 84 ALL diagnosis snv DDX50 splice_region G154_E3splice_region NM_024045 10-PANWJB DDX50 DONOR SNP Somatic -6 0.067 SQHIGH 6 43 49 0 47 47 Cosmic_Gene T T A T T TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 79009 10 70670142 70670142 18 ALL diagnosis snv LIPN missense T202M NM_001102469 10-PANWJB LIPN MISSENSE SNP Somatic PFAM:PF06342:DUF1057 9 0.283 SQHIGH 7 16 23 0 33 33 C C T C C TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 643418 10 90528618 90528618 30 ALL diagnosis snv JAKMIP3 missense A624T NM_001105521 10-PANWJB JAKMIP3 MISSENSE SNP Somatic -7 0.062 SQHIGH 7 6 13 0 9 9 Cosmic_Gene G G A G G TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 282973 10 133962937 133962937 20 ALL diagnosis snv LOC100506258 EXON E6_exon NM_175733 10-PANWJB LOC100506258|SYT9 UTR|INTRON SNP Somatic 13 0.465 SQHIGH 8 26 34 0 43 43 Cosmic_Gene C C T C C TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 100506258|143425 11 7459820 7459820 31 ALL diagnosis snv ADAMTS15 missense R202H NM_139055 10-PANWJB ADAMTS15 MISSENSE SNP Somatic -3 0.085 SQHIGH 6 8 14 0 17 17 Cosmic_Gene G G A G G TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 170689 11 130319473 130319473 24 ALL diagnosis snv OTOGL missense Y356C NM_173591 10-PANWJB OTOGL MISSENSE SNP Somatic PFAM:PF08742:C8 -7 0.062 SQHIGH 4 13 17 0 23 23 A A G A A TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 283310 12 80645514 80645514 16 ALL diagnosis snv DCLK1 missense E724K NM_004734 10-PANWJB DCLK1 MISSENSE SNP Somatic 4 0.167 SQHIGH 11 19 30 1 46 47 Cosmic_Gene C C T C C TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 9201 13 36348799 36348799 41 ALL diagnosis snv C16orf59 silent L377L NM_025108 10-PANWJB C16orf59 SYNONYMOUS SNP Somatic -2 0.094 SQHIGH 4 24 28 0 35 35 C C T C C TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 80178 16 2514204 2514204 15 ALL diagnosis snv STK11 missense P280S NM_000455 10-PANWJB STK11 MISSENSE SNP Somatic 1 0.125 SQHIGH 10 11 21 0 12 12 Cosmic_Gene C C T C C TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 6794 19 1221315 1221315 24 ALL diagnosis snv DEFB123 missense T9A NM_153324 10-PANWJB DEFB123 MISSENSE SNP Somatic -9 0.052 SQHIGH 5 20 25 0 21 21 A A G A A TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 245936 20 30028526 30028526 14 ALL diagnosis complex EFHB frameshift Q472_M473fs NM_144715 10-PANWJB EFHB NONSENSE Sub Somatic 2 0.747 SQHIGH 8 16 24 0 31 31 ATTT ATTT AGGATA ATTT ATTT TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 151651 3 19947112 19947115 32 ALL diagnosis snv PDE4DIP missense S276F NM_014644 10-PAPCXR PDE4DIP MISSENSE SNP Somatic PFAM:PF07851:TMPIT 2 0.140 SQHIGH 16 50 66 1 82 83 Cosmic_Gene G G A G G TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 9659 1 144922580 144922580 51 ALL diagnosis snv ARID4B nonsense E522* NM_016374 10-PAPCXR ARID4B NONSENSE SNP Somatic 9 0.288 SQHIGH 8 11 19 0 17 17 Cosmic_Gene C C A C C TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 51742 1 235383127 235383127 26 ALL diagnosis snv MFI2 missense M382L NM_005929 10-PAPCXR MFI2 MISSENSE SNP Somatic PFAM:PF00405:Transferrin -4 0.080 SQHIGH 4 33 37 0 45 45 T T A T T TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 4241 3 196742325 196742325 14 ALL diagnosis snv DNAH5 silent A1845A NM_001369 10-PAPCXR DNAH5 SYNONYMOUS SNP Somatic 17 0.807 SQHIGH 18 13 31 1 34 35 Cosmic_Gene G G A G G TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 1767 5 13841189 13841189 64 ALL diagnosis snv TCP10 missense T223M NM_004610 10-PAPCXR TCP10 MISSENSE SNP Somatic -6 0.068 SQHIGH 19 11 30 0 16 16 Cosmic_Gene G G A G G TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 6953 6 167789474 167789474 49 ALL diagnosis snv GSAP missense N823S NM_017439 10-PAPCXR PION MISSENSE SNP Somatic 13 0.467 SQHIGH 17 21 38 0 32 32 Cosmic_Gene T T C T T TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 54103 7 76941163 76941163 54 ALL diagnosis snv EPHA1 missense R157L NM_005232 10-PAPCXR EPHA1 MISSENSE SNP Somatic 7 0.232 SQHIGH 20 15 35 2 51 53 Cosmic_Gene C C A C C TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 2041 7 143097109 143097109 78 ALL diagnosis snv EXTL3 missense D599E NM_001440 10-PAPCXR EXTL3 MISSENSE SNP Somatic 4 0.170 SQHIGH 20 17 37 0 28 28 Cosmic_Gene C C A C C TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 2137 8 28575373 28575373 63 ALL diagnosis snv ANXA1 missense A165T NM_000700 10-PAPCXR ANXA1 MISSENSE SNP Somatic PFAM:PF00191:Annexin 12 0.412 SQHIGH 17 19 36 1 28 29 Cosmic_Gene G G A G G TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 301 9 75777715 75777715 43 ALL diagnosis snv PTPN5 silent D44D NM_006906 10-PAPCXR PTPN5 SYNONYMOUS SNP Somatic 14 0.541 SQHIGH 23 15 38 0 29 29 Cosmic_Gene G G A G G TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 84867 11 18765712 18765712 75 ALL diagnosis snv KIAA1549L splice P1171_E9splice NM_012194 10-PAPCXR KIAA1549L DISRUPT SNP Somatic 9 0.288 SQHIGH 23 33 56 0 47 47 Cosmic_Gene G G A G G TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 25758 11 33596420 33596420 72 ALL diagnosis snv PLBD1-AS1 EXON E23_exon NM_004963 10-PAPCXR GUCY2C INTRON SNP Somatic 3 0.154 SQHIGH 5 34 39 0 48 48 Cosmic_Gene T T A T T TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 2984 12 14772280 14772280 18 ALL diagnosis snv WSCD2 missense R18H NM_014653 10-PAPCXR WSCD2 MISSENSE SNP Somatic 19 0.947 SQHIGH 20 19 39 0 31 31 Cosmic_Gene G G A G G TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 9671 12 108589662 108589662 64 ALL diagnosis snv F7 missense V288F NM_000131 10-PAPCXR F10|F7 TSS-UPSTREAM|MISSENSE SNP Somatic 18 0.870 SQHIGH 15 12 27 0 28 28 Cosmic_Gene G G T G G TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 2159|2155 13 113772783 113772783 58 ALL diagnosis snv MUC16 missense A7274V NM_024690 10-PAPCXR MUC16 MISSENSE SNP Somatic 8 0.259 SQHIGH 25 17 42 0 34 34 Cosmic_Gene G G A G G TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 94025 19 9065625 9065625 85 ALL diagnosis snv GRAMD1A silent S111S NM_020895 10-PAPCXR GRAMD1A SYNONYMOUS SNP Somatic PFAM:PF02893:GRAM 14 0.541 SQHIGH 19 27 46 0 37 37 C C T C C TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 57655 19 35501003 35501003 58 ALL diagnosis snv NOP56 splice M1_E1splice NM_006392 10-PAPCXR SNORA51|SNORD110|SNORD56|NOP56|SNORD57|SNORD86|MIR1292 TSS-UPSTREAM|TSS-UPSTREAM|TSS-UPSTREAM|DISRUPT|TSS-UPSTREAM|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 7 0.232 SQHIGH 14 22 36 0 23 23 Cosmic_Gene T T G T T TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 677831|692213|26793|10528|26792|692201|100302138 20 2633311 2633311 35 ALL diagnosis complex CHD7 frameshift S647_K648fs NM_017780 10-PAPCXR CHD7 FRAMESHIFT Sub Somatic -5 0.384 SQHIGH 27 42 69 0 61 61 Cosmic_Gene CAAA CAAA CGGGAGCTAGCACCCCC CAAA CAAA TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 55636 8 61693833 61693836 87 ALL diagnosis snv MAP2 missense Y593H NM_002374 10-PAPDFU MAP2 INTRON,MISSENSE SNP Somatic PFAM:PF08377:MAP2_projctn -5 0.074 SQHIGH 7 45 52 0 49 49 Cosmic_Gene T T C T T TARGET-10-PAPDFU-09A-01D TARGET-10-PAPDFU-10A-01D 4133 2 210558671 210558671 21 ALL diagnosis snv ST3GAL6 missense D82G NM_006100 10-PAPDFU ST3GAL6 MISSENSE SNP Somatic PFAM:PF00777:Glyco_transf_29 3 0.155 SQHIGH 6 24 30 0 25 25 Cosmic_Gene A A G A A TARGET-10-PAPDFU-09A-01D TARGET-10-PAPDFU-10A-01D 10402 3 98491734 98491734 17 ALL diagnosis snv WIPF3 missense R58C NM_001080529 10-PAPDFU WIPF3 MISSENSE SNP Somatic 6 0.210 SQHIGH 7 21 28 0 32 32 Cosmic_Gene C C T C C TARGET-10-PAPDFU-09A-01D TARGET-10-PAPDFU-10A-01D 644150 7 29915527 29915527 25 ALL diagnosis snv FAM65A missense F205V NM_024519 10-PAPDFU FAM65A MISSENSE SNP Somatic 12 0.411 SQHIGH 11 38 49 0 74 74 Cosmic_Gene T T G T T TARGET-10-PAPDFU-09A-01D TARGET-10-PAPDFU-10A-01D 79567 16 67574248 67574248 47 ALL diagnosis snv ESF1 missense E226K NM_016649 10-PAPDFU ESF1 MISSENSE SNP Somatic -10 0.050 SQHIGH 4 24 28 0 30 30 Cosmic_Gene C C T C C TARGET-10-PAPDFU-09A-01D TARGET-10-PAPDFU-10A-01D 51575 20 13756878 13756878 13 ALL diagnosis complex FAM65A frameshift L202_E204fs NM_024519 10-PAPDFU FAM65A FRAMESHIFT Sub Somatic -4 0.413 SQHIGH 13 54 67 0 88 88 Cosmic_Gene TGGGCG TGGGCG TTCC TGGGCG TGGGCG TARGET-10-PAPDFU-09A-01D TARGET-10-PAPDFU-10A-01D 79567 16 67574240 67574245 51 ALL diagnosis snv NRAS missense G12D NM_002524 10-PAPJRR NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 18 0.959 SQHIGH 35 29 64 0 29 29 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 4893 1 115258747 115258747 75 ALL diagnosis snv CLEC4F missense A508T NM_173535 10-PAPJRR CLEC4F MISSENSE SNP Somatic 15 0.727 SQHIGH 57 2 59 0 24 24 Cosmic_Gene C T T C C TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 165530 2 71039596 71039596 181 ALL diagnosis snv UBR2 silent I563I NM_015255 10-PAPJRR UBR2 SYNONYMOUS SNP Somatic 12 0.560 SQHIGH 22 77 99 0 43 43 Cosmic_Gene C C T C C TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 23304 6 42604763 42604763 38 ALL diagnosis snv PTK7 splice_region G751_E14splice_region NM_002821 10-PAPJRR PTK7 INTRON SNP Somatic 13 0.583 SQHIGH 75 10 85 0 50 50 Cosmic_Gene G G T G G TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 5754 6 43111366 43111366 266 ALL diagnosis snv TAB2 missense R576S NM_015093 10-PAPJRR SUMO4|TAB2 TSS-UPSTREAM|MISSENSE SNP Somatic 11 0.541 SQHIGH 50 4 54 0 31 31 C A A C C TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 387082|23118 6 149718862 149718862 185 ALL diagnosis snv TMEM74 missense R216C NM_153015 10-PAPJRR TMEM74 MISSENSE SNP Somatic 11 0.541 SQHIGH 49 5 54 0 17 17 Cosmic_Gene G G A G G TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 157753 8 109796682 109796682 116 ALL diagnosis snv TRPM6 missense A172V NM_017662 10-PAPJRR TRPM6 MISSENSE SNP Somatic 18 0.959 SQHIGH 21 2 23 0 23 23 Cosmic_Gene G G A G G TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 140803 9 77454969 77454969 104 ALL diagnosis snv CDHR1 missense E63Q NM_033100 10-PAPJRR CDHR1 MISSENSE SNP Somatic PFAM:PF00028:Cadherin 14 0.622 SQHIGH 74 13 87 0 46 46 Cosmic_Gene G G C G G TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 92211 10 85956296 85956296 235 ALL diagnosis snv LRP6 splice_region A1483_E21splice_region NM_002336 10-PAPJRR LRP6 DONOR SNP Somatic 6 0.357 SQHIGH 7 52 59 0 34 34 Cosmic_Gene T T A T T TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 4040 12 12278227 12278227 14 ALL diagnosis snv LRP6 splice A1483A NM_002336 10-PAPJRR LRP6 SYNONYMOUS SNP Somatic 7 0.377 SQHIGH 7 49 56 0 29 29 Cosmic_Gene T T A T T TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 4040 12 12278230 12278230 13 ALL diagnosis snv PTPRB silent T1180T NM_001109754 10-PAPJRR PTPRB SYNONYMOUS SNP Somatic PFAM:PF00041:fn3 16 0.810 SQHIGH 48 2 50 0 24 24 Cosmic_Gene C T T C C TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 5787 12 70963549 70963549 167 ALL diagnosis snv UBE3B silent R537R NM_130466 10-PAPJRR UBE3B SYNONYMOUS SNP Somatic 18 0.959 SQHIGH 44 4 48 0 27 27 Cosmic_Gene G G A G G TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 89910 12 109945529 109945529 158 ALL diagnosis snv ATP8A2 missense T432P NM_016529 10-PAPJRR ATP8A2 MISSENSE SNP Somatic 11 0.541 SQHIGH 29 22 51 0 32 32 Cosmic_Gene A A C A A TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 51761 13 26133141 26133141 81 ALL diagnosis snv FLT3 missense L576P NM_004119 10-PAPJRR FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 10 0.443 SQHIGH 17 72 89 0 44 44 Cosmic_Gene A A G A A TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 2322 13 28608329 28608329 32 ALL diagnosis snv CCDC88C missense Q1001R NM_001080414 10-PAPJRR CCDC88C MISSENSE SNP Somatic 11 0.541 SQHIGH 68 83 151 1 46 47 Cosmic_Gene T T C T T TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 440193 14 91774699 91774699 87 ALL diagnosis snv DNAJC17 missense R282C NM_018163 10-PAPJRR C15orf62|DNAJC17 TSS-UPSTREAM|MISSENSE SNP Somatic 0 0.289 SQHIGH 50 6 56 0 26 26 G A A G G TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 643338|55192 15 41060209 41060209 153 ALL diagnosis snv CNOT1 missense T1178A NM_016284 10-PAPJRR CNOT1 MISSENSE SNP Somatic 10 0.443 SQHIGH 13 49 62 0 38 38 Cosmic_Gene T T C T T TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 23019 16 58581577 58581577 29 ALL diagnosis snv MIR133A1HG EXON E12_exon NM_020774 10-PAPJRR MIR133A1|MIB1 TSS-UPSTREAM|INTRON SNP Somatic -10 0.198 SQHIGH 7 42 49 0 27 27 Cosmic_Gene A A G A A TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 406922|57534 18 19407495 19407495 14 ALL diagnosis snv ZNF708 silent K477K NM_021269 10-PAPJRR ZNF708 SYNONYMOUS SNP Somatic -10 0.198 SQHIGH 5 44 49 0 35 35 Cosmic_Gene C C T C C TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 7562 19 21476337 21476337 12 ALL diagnosis snv ZNF708 silent Y476Y NM_021269 10-PAPJRR ZNF708 SYNONYMOUS SNP Somatic -7 0.232 SQHIGH 5 33 38 0 27 27 Cosmic_Gene A A G A A TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 7562 19 21476340 21476340 12 ALL diagnosis snv DEPDC5 silent L558L NM_014662 10-PAPJRR DEPDC5 SYNONYMOUS SNP Somatic 15 0.727 SQHIGH 45 35 80 0 45 45 Cosmic_Gene C C T C C TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 9681 22 32215013 32215013 116 ALL diagnosis snv MXRA5 missense T1385M NM_015419 10-PAPJRR MXRA5 MISSENSE SNP Somatic 18 0.959 SQHIGH 57 7 64 0 16 16 Cosmic_Gene G A G TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 25878 X 3239572 3239572 110 ALL diagnosis snv AIM1L missense V1464A NM_001039775 10-PARIKN AIM1L MISSENSE SNP Somatic PFAM:PF00030:Crystall -5 0.080 SQHIGH 3 4 7 0 17 17 Cosmic_Gene A A G A A TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 55057 1 26655288 26655288 18 ALL diagnosis snv NCDN silent G710G NM_001014839 10-PARIKN NCDN SYNONYMOUS SNP Somatic -8 0.063 SQHIGH 9 9 18 0 14 14 Cosmic_Gene C C T C C TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 23154 1 36031204 36031204 28 ALL diagnosis snv JAK1 missense D899V NM_002227 10-PARIKN JAK1 MISSENSE SNP Somatic 14 0.563 SQHIGH 12 14 26 0 29 29 Cosmic_Gene T T A T T TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 3716 1 65305432 65305432 47 ALL diagnosis snv TBC1D5 silent S754S NM_001134381 10-PARIKN TBC1D5 SYNONYMOUS SNP Somatic 11 0.381 SQHIGH 18 29 47 0 37 37 Cosmic_Gene G G A G G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 9779 3 17202647 17202647 53 ALL diagnosis snv MFSD10 splice H57_E1splice NM_001120 10-PARIKN C4orf10|MFSD10 TSS-UPSTREAM|DISRUPT SNP Somatic 12 0.431 SQHIGH 13 27 40 0 41 41 C C T C C TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 317648|10227 4 2935479 2935479 45 ALL diagnosis snv CSN1S1 missense R124H NM_001890 10-PARIKN CSN1S1 MISSENSE SNP Somatic 11 0.381 SQHIGH 16 15 31 0 29 29 G G A G G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 1446 4 70808264 70808264 57 ALL diagnosis snv IGFBP1 silent S49S NM_000596 10-PARIKN IGFBP1 SYNONYMOUS SNP Somatic PFAM:PF00219:IGFBP -6 0.074 SQHIGH 7 6 13 0 12 12 Cosmic_Gene G G A G G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 3484 7 45928398 45928398 24 ALL diagnosis snv SLC26A4 missense P76L NM_000441 10-PARIKN LOC286002|SLC26A4 TSS-UPSTREAM|MISSENSE SNP Somatic 13 0.486 SQHIGH 9 14 23 0 27 27 Cosmic_Gene C C T C C TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 286002|5172 7 107303803 107303803 35 ALL diagnosis snv CLDN23 silent V77V NM_194284 10-PARIKN CLDN23 SYNONYMOUS SNP Somatic PFAM:PF00822:PMP22_Claudin -2 0.103 SQHIGH 5 15 20 0 20 20 G G A G G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 137075 8 8560139 8560139 16 ALL diagnosis snv SPTAN1 silent K1022K NM_001130438 10-PARIKN SPTAN1 SYNONYMOUS SNP Somatic 10 0.342 SQHIGH 9 22 31 0 19 19 Cosmic_Gene G G A G G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 6709 9 131353815 131353815 21 ALL diagnosis snv NOTCH1 nonsense Q2459* NM_017617 10-PARIKN NOTCH1 NONSENSE SNP Somatic 10 0.342 SQHIGH 22 6 28 0 19 19 Cosmic_Gene G G A G G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 4851 9 139390816 139390816 76 ALL diagnosis snv NOTCH1 missense F1693S NM_017617 10-PARIKN NOTCH1 MISSENSE SNP Somatic PFAM:PF07684:NODP -7 0.068 SQHIGH 4 28 32 0 40 40 Cosmic_Gene A A G A A TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 4851 9 139397723 139397723 15 ALL diagnosis snv NOTCH1 missense L1678P NM_017617 10-PARIKN NOTCH1 MISSENSE SNP Somatic PFAM:PF07684:NODP 4 0.183 SQHIGH 11 29 40 0 38 38 COSMIC:mut:13048 Cosmic_Gene A A G A A TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 4851 9 139397768 139397768 35 ALL diagnosis snv PLCE1 missense G1001R NM_016341 10-PARIKN PLCE1 MISSENSE SNP Somatic 15 0.630 SQHIGH 12 17 29 0 31 31 Cosmic_Gene G G A G G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 51196 10 96006283 96006283 44 ALL diagnosis snv NUDT4P1,NUDT4P2 EXON E5_exon NM_019094 10-PARIKN NUDT4 UTR3 SNP Somatic -6 0.074 SQHIGH 4 23 27 0 31 31 T T C T T TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 11163 12 93794978 93794978 14 ALL diagnosis snv RASAL1 splice_region T171_E8splice_region NM_004658 10-PARIKN RASAL1 ACCEPTOR SNP Somatic 7 0.248 SQHIGH 36 27 63 1 70 71 Cosmic_Gene A A G A A TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 8437 12 113557068 113557068 136 ALL diagnosis snv THRIL EXON E3_exon NM_080626 10-PARIKN BRI3BP UTR3 SNP Somatic -9 0.059 SQHIGH 7 27 34 0 32 32 Cosmic_Gene A A T A A TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 140707 12 125510326 125510326 22 ALL diagnosis snv GCNT3 nonsense Q387* NM_004751 10-PARIKN GCNT3 NONSENSE SNP Somatic PFAM:PF02485:Branch 16 0.703 SQHIGH 20 11 31 0 48 48 Cosmic_Gene C C T C C TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 9245 15 59911596 59911596 105 ALL diagnosis snv ABCA3 missense G1067E NM_001089 10-PARIKN ABCA3 MISSENSE SNP Somatic 10 0.342 SQHIGH 17 16 33 0 28 28 Cosmic_Gene C C T C C TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 21 16 2336773 2336773 57 ALL diagnosis snv NKD1 missense G100R NM_033119 10-PARIKN NKD1 MISSENSE SNP Somatic 13 0.486 SQHIGH 13 18 31 0 32 32 G G A G G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 85407 16 50655551 50655551 47 ALL diagnosis snv MBD3 missense V200M NM_001281453 10-PARIKN MBD3 MISSENSE SNP Somatic 7 0.248 SQHIGH 16 21 37 0 38 38 Cosmic_Gene C C T C C TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 53615 19 1581170 1581170 58 ALL diagnosis snv JAK3 missense M511I NM_000215 10-PARIKN JAK3 MISSENSE SNP Somatic 9 0.305 SQHIGH 11 9 20 0 20 20 COSMIC:mut:51374 Cosmic_Gene C C T C C TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 3718 19 17949108 17949108 41 ALL diagnosis snv DCAF8L1 silent F463F NM_001017930 10-PARIKN DCAF8L1 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 10 0.342 SQHIGH 24 2 26 0 14 14 Cosmic_Gene G A G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 139425 X 27998063 27998063 83 ALL diagnosis snv TCEB3 missense R500I NM_003198 10-PARIPA TCEB3 MISSENSE SNP Somatic 15 0.725 SQHIGH 61 19 80 0 51 51 Cosmic_Gene G G T G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 6924 1 24078516 24078516 201 ALL diagnosis snv TCEB3 nonsense E547* NM_003198 10-PARIPA TCEB3 NONSENSE SNP Somatic 14 0.619 SQHIGH 91 12 103 0 51 51 Cosmic_Gene G G T G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 6924 1 24080613 24080613 289 ALL diagnosis snv TCEB3 missense D771Y NM_003198 10-PARIPA TCEB3 MISSENSE SNP Somatic 13 0.581 SQHIGH 50 11 61 0 31 31 Cosmic_Gene G G T G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 6924 1 24083591 24083591 148 ALL diagnosis snv MARCKSL1 nonsense E160* NM_023009 10-PARIPA MARCKSL1 NONSENSE SNP Somatic 17 0.876 SQHIGH 90 9 99 2 43 45 Cosmic_Gene C C A C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 65108 1 32800308 32800308 245 ALL diagnosis snv ZMYND12 silent V3V NM_032257 10-PARIPA PPCS|ZMYND12 TSS-UPSTREAM|SYNONYMOUS,UTR5 SNP Somatic 17 0.876 SQHIGH 58 5 63 0 22 22 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 79717|84217 1 42921660 42921660 152 ALL diagnosis snv CPT2 silent L419L NM_000098 10-PARIPA CPT2 SYNONYMOUS SNP Somatic PFAM:PF00755:Carn_acyltransf 15 0.725 SQHIGH 68 6 74 0 40 40 G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 1376 1 53676603 53676603 240 ALL diagnosis snv NOTCH2 missense S2162F NM_024408 10-PARIPA NOTCH2 MISSENSE SNP Somatic 13 0.581 SQHIGH 38 39 77 1 48 49 Cosmic_Gene G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 4853 1 120458860 120458860 89 ALL diagnosis snv XIRP2 missense A677V NM_152381 10-PARIPA XIRP2 INTRON,MISSENSE SNP Somatic 17 0.876 SQHIGH 85 5 90 0 37 37 Cosmic_Gene C T T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 129446 2 168099932 168099932 262 ALL diagnosis snv SLC4A4 missense V118M NM_001098484 10-PARIPA SLC4A4 MISSENSE SNP Somatic 15 0.725 SQHIGH 46 5 51 1 24 25 Cosmic_Gene G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 8671 4 72205185 72205185 131 ALL diagnosis snv METTL14 missense L385F NM_020961 10-PARIPA METTL14 MISSENSE SNP Somatic 16 0.805 SQHIGH 83 17 100 1 47 48 G G C G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 57721 4 119631241 119631241 223 ALL diagnosis snv TMEM174 splice R209_E2splice NM_153217 10-PARIPA TMEM174 ACCEPTOR SNP Somatic 7 0.377 SQHIGH 31 43 74 0 33 33 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 134288 5 72469884 72469884 61 ALL diagnosis snv EYA4 missense L339F NM_004100 10-PARIPA EYA4|LOC100507308 MISSENSE|INTRON SNP Somatic 14 0.619 SQHIGH 50 8 58 0 27 27 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 2070|100507308 6 133802645 133802645 147 ALL diagnosis snv TAB2 missense A672T NM_015093 10-PARIPA TAB2 MISSENSE SNP Somatic PFAM:PF00641:zf-RanBP 15 0.725 SQHIGH 50 6 56 1 48 49 G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 23118 6 149730787 149730787 213 ALL diagnosis snv IYD silent I74I NM_001164694 10-PARIPA IYD SYNONYMOUS SNP Somatic 15 0.725 SQHIGH 56 10 66 0 27 27 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 389434 6 150710531 150710531 147 ALL diagnosis snv PNLDC1 splice_region H375_E15splice_region NM_173516 10-PARIPA PNLDC1 INTRON SNP Somatic 17 0.876 SQHIGH 81 20 101 0 59 59 T T C T T TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 154197 6 160238191 160238191 261 ALL diagnosis snv TLR4 silent L779L NM_138554 10-PARIPA TLR4 SYNONYMOUS,UTR SNP Somatic PFAM:PF01582:TIR 18 0.957 SQHIGH 39 2 41 1 30 31 Cosmic_Gene C A A C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 7099 9 120476743 120476743 160 ALL diagnosis snv LRIT2 missense D157N NM_001017924 10-PARIPA LRIT2 MISSENSE SNP Somatic PFAM:PF12799:LRR_4 11 0.541 SQHIGH 108 14 122 1 56 57 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 340745 10 85984512 85984512 311 ALL diagnosis snv LRIT2 missense R61K NM_001017924 10-PARIPA LRIT2 MISSENSE SNP Somatic 12 0.559 SQHIGH 76 6 82 0 34 34 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 340745 10 85984799 85984799 228 ALL diagnosis snv PDE6C missense E827K NM_006204 10-PARIPA PDE6C MISSENSE SNP Somatic 15 0.725 SQHIGH 71 12 83 0 51 51 Cosmic_Gene G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 5146 10 95422896 95422896 251 ALL diagnosis snv HPS6 missense G125E NM_024747 10-PARIPA HPS6 MISSENSE SNP Somatic -3 0.269 SQHIGH 14 21 35 0 17 17 G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 79803 10 103825605 103825605 29 ALL diagnosis snv PNLIP missense D396H NM_000936 10-PARIPA PNLIP MISSENSE SNP Somatic 18 0.957 SQHIGH 60 6 66 0 39 39 Cosmic_Gene G G C G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 5406 10 118321000 118321000 221 ALL diagnosis snv SYT9 splice_region R166_E3splice_region NM_175733 10-PARIPA SYT9 ACCEPTOR SNP Somatic 10 0.440 SQHIGH 77 15 92 0 46 46 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 143425 11 7334618 7334618 232 ALL diagnosis snv BBOX1 missense E26Q NM_003986 10-PARIPA BBOX1 MISSENSE SNP Somatic PFAM:PF06155:DUF971 15 0.725 SQHIGH 46 8 54 0 33 33 Cosmic_Gene G G C G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 8424 11 27077053 27077053 160 ALL diagnosis snv ALG8 missense I339M NM_024079 10-PARIPA ALG8 MISSENSE SNP Somatic PFAM:PF03155:Alg6_Alg8 15 0.725 SQHIGH 49 4 53 0 30 30 Cosmic_Gene G G C G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 79053 11 77820509 77820509 179 ALL diagnosis snv TARBP2 silent L322L NM_134323 10-PARIPA TARBP2 SYNONYMOUS SNP Somatic 17 0.876 SQHIGH 92 7 99 0 57 57 Cosmic_Gene C C G C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 6895 12 53899797 53899797 345 ALL diagnosis snv IGDCC4 missense H826Y NM_020962 10-PARIPA IGDCC4 MISSENSE SNP Somatic 10 0.440 SQHIGH 17 70 87 2 59 61 Cosmic_Gene G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 57722 15 65681682 65681682 26 ALL diagnosis snv NTRK3 silent L56L NM_001012338 10-PARIPA NTRK3|LOC283738 SYNONYMOUS|INTRON SNP Somatic 5 0.344 SQHIGH 23 3 26 0 20 20 Cosmic_Gene G G T G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 4916|283738 15 88799217 88799217 95 ALL diagnosis snv C16orf91 missense W62L NM_001272051 10-PARIPA C16orf91 MISSENSE SNP Somatic 14 0.619 SQHIGH 73 9 82 1 44 45 C C A C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 283951 16 1470461 1470461 232 ALL diagnosis snv CREBBP splice T1260_E20splice NM_004380 10-PARIPA CREBBP DISRUPT SNP Somatic -3 0.269 SQHIGH 8 49 57 0 27 27 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 1387 16 3801726 3801726 14 ALL diagnosis snv NEURL4 missense E1199K NM_032442 10-PARIPA NEURL4|GPS2 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF07177:Neuralized 16 0.805 SQHIGH 30 6 36 0 25 25 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 84461|2874 17 7222458 7222458 111 ALL diagnosis snv CDC6 missense E402Q NM_001254 10-PARIPA CDC6 MISSENSE SNP Somatic 17 0.876 SQHIGH 89 3 92 0 43 43 Cosmic_Gene G C C G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 990 17 38452974 38452974 314 ALL diagnosis snv SALL3 missense D1188N NM_171999 10-PARIPA SALL3 MISSENSE SNP Somatic 13 0.581 SQHIGH 73 8 81 0 36 36 Cosmic_Gene G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 27164 18 76756981 76756981 220 ALL diagnosis snv ERF missense D203N NM_006494 10-PARIPA ERF MISSENSE SNP Somatic 12 0.559 SQHIGH 76 11 87 0 44 44 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 2077 19 42753657 42753657 241 ALL diagnosis snv ZNF350 missense H396Y NM_021632 10-PARIPA ZNF350 MISSENSE SNP Somatic 11 0.541 SQHIGH 105 15 120 0 54 54 Cosmic_Gene G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 59348 19 52468520 52468520 309 ALL diagnosis snv SPTLC3 missense E497K NM_018327 10-PARIPA SPTLC3 MISSENSE SNP Somatic 12 0.559 SQHIGH 39 2 41 1 25 26 G A A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 55304 20 13140723 13140723 143 ALL diagnosis snv SLC32A1 silent L50L NM_080552 10-PARIPA SLC32A1 SYNONYMOUS SNP Somatic 9 0.412 SQHIGH 39 3 42 0 21 21 C C G C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 140679 20 37353517 37353517 131 ALL diagnosis snv FAM65C nonsense R173* NM_080829 10-PARIPA FAM65C NONSENSE SNP Somatic 12 0.559 SQHIGH 42 7 49 0 19 19 Cosmic_Gene G G A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 140876 20 49226157 49226157 107 ALL diagnosis snv DIDO1 silent P2055P NM_001193369 10-PARIPA DIDO1 SYNONYMOUS SNP Somatic 7 0.377 SQHIGH 24 2 26 0 14 14 Cosmic_Gene G A A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 11083 20 61511143 61511143 83 ALL diagnosis snv CXorf30 missense E73K NM_001098843 10-PARIPA CXorf30 MISSENSE SNP Somatic 15 0.725 SQHIGH 33 4 37 1 21 22 Cosmic_Gene G A A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 645090 X 36319203 36319203 103 ALL diagnosis snv BCOR nonsense W1721* NM_017745 10-PARIPA BCOR NONSENSE SNP Somatic 15 0.725 SQHIGH 63 5 68 0 33 33 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 54880 X 39911366 39911366 209 ALL diagnosis snv LOC286437 EXON E1_exon NM_001012755 10-PARIPA MCART6|LOC286437 INTRON|UTR SNP Somatic 18 0.957 SQHIGH 55 5 60 0 39 39 G A A G G TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 401612|286437 X 103367460 103367460 217 ALL diagnosis snv COL4A5 silent I867I NM_000495 10-PARIPA COL4A5 SYNONYMOUS SNP Somatic 14 0.619 SQHIGH 48 2 50 0 27 27 Cosmic_Gene C T T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 1287 X 107863580 107863580 180 ALL diagnosis snv IRS4 missense E694K NM_003604 10-PARIPA IRS4 MISSENSE SNP Somatic 17 0.876 SQHIGH 86 8 94 0 33 33 Cosmic_Gene C C T C C TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 8471 X 107977495 107977495 225 ALL diagnosis mnv TCEB3 missense D421_E423>GDQ NM_003198 10-PARIPA TCEB3 MISSENSE Sub Somatic -6 0.423 SQHIGH 16 6 22 0 56 56 Cosmic_Gene ATATGG ATATGG GGGACC ATATGG ATATGG TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 6924 1 24078279 24078284 114 ALL diagnosis complex SYNE1 frameshift K2157fs NM_182961 10-PARIPA SYNE1 FRAMESHIFT Sub Somatic -6 0.423 SQHIGH 33 6 39 0 34 34 Cosmic_Gene TC TC TTG TC TC TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 23345 6 152730271 152730272 143 ALL diagnosis snv CSMD2 silent G2702G NM_052896 10-PARRPK CSMD2 SYNONYMOUS SNP Somatic 17 0.805 SQHIGH 24 20 44 0 27 27 Cosmic_Gene C C T C C TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 114784 1 34035005 34035005 65 ALL diagnosis snv NRAS missense G13V NM_002524 10-PARRPK NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic -10 0.048 SQHIGH 5 26 31 0 38 38 COSMIC:mut:574 Cosmic_Gene C C A C C TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 4893 1 115258744 115258744 18 ALL diagnosis snv CACNA1E silent R922R NM_000721 10-PARRPK CACNA1E SYNONYMOUS SNP Somatic 5 0.179 SQHIGH 10 8 18 0 23 23 Cosmic_Gene G G C G G TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 777 1 181701988 181701988 44 ALL diagnosis snv LRP1B missense D2914Y NM_018557 10-PARRPK LRP1B MISSENSE SNP Somatic 16 0.687 SQHIGH 19 18 37 0 26 26 Cosmic_Gene C C A C C TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 53353 2 141259366 141259366 55 ALL diagnosis snv SF3B1 missense R1297C NM_012433 10-PARRPK SF3B1 MISSENSE SNP Somatic 17 0.805 SQHIGH 20 20 40 0 42 42 Cosmic_Gene G G A G G TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 23451 2 198257053 198257053 77 ALL diagnosis snv STK11IP missense P425L NM_052902 10-PARRPK STK11IP MISSENSE SNP Somatic -6 0.066 SQHIGH 11 9 20 0 13 13 Cosmic_Gene C C T C C TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 114790 2 220472790 220472790 31 ALL diagnosis snv COL7A1 missense R1707W NM_000094 10-PARRPK MIR711|COL7A1 TSS-UPSTREAM|MISSENSE SNP Somatic 0 0.111 SQHIGH 9 11 20 0 14 14 Cosmic_Gene G G A G G TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 100313843|1294 3 48617469 48617469 25 ALL diagnosis snv FAT1 missense I1444L NM_005245 10-PARRPK FAT1 MISSENSE SNP Somatic 17 0.805 SQHIGH 22 25 47 0 42 42 Cosmic_Gene T T G T T TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 2195 4 187549911 187549911 74 ALL diagnosis snv GABRB2 missense R387W NM_021911 10-PARRPK GABRB2 INTRON,MISSENSE SNP dbsnp.134:rs140795978 Somatic PFAM:PF02932:Neur_chan_memb 12 0.401 SQHIGH 14 21 35 0 45 45 G G A G G TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 2561 5 160753407 160753407 58 ALL diagnosis snv MYO1G missense Q642H NM_033054 10-PARRPK MYO1G MISSENSE SNP Somatic -3 0.083 SQHIGH 7 10 17 0 15 15 Cosmic_Gene C C A C C TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 64005 7 45006294 45006294 22 ALL diagnosis snv GBF1 silent L176L NM_004193 10-PARRPK GBF1 SYNONYMOUS SNP Somatic 17 0.805 SQHIGH 28 17 45 0 42 42 Cosmic_Gene A A G A A TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 8729 10 104112219 104112219 107 ALL diagnosis snv PRLHR missense A42V NM_004248 10-PARRPK LOC100652948|PRLHR UTR|MISSENSE SNP Somatic -5 0.070 SQHIGH 15 7 22 0 13 13 G G A G G TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 100652948|2834 10 120354632 120354632 43 ALL diagnosis snv FIBIN silent S133S NM_203371 10-PARRPK FIBIN SYNONYMOUS SNP Somatic 14 0.533 SQHIGH 15 16 31 0 21 21 G G A G G TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 387758 11 27016472 27016472 42 ALL diagnosis snv OR5AR1 missense T263K NM_001004730 10-PARRPK OR5AR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 17 0.805 SQHIGH 14 21 35 0 30 30 C C A C C TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 219493 11 56431949 56431949 44 ALL diagnosis snv LRP6 splice_region A1483_E21splice_region NM_002336 10-PARRPK LRP6 DONOR SNP Somatic 4 0.163 SQHIGH 7 31 38 0 34 34 Cosmic_Gene T T A T T TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 4040 12 12278227 12278227 21 ALL diagnosis snv LRP6 splice A1483A NM_002336 10-PARRPK LRP6 SYNONYMOUS SNP Somatic 4 0.163 SQHIGH 6 32 38 0 39 39 Cosmic_Gene T T A T T TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 4040 12 12278230 12278230 19 ALL diagnosis snv SRGAP1 missense R212Q NM_020762 10-PARRPK SRGAP1 MISSENSE SNP Somatic 13 0.458 SQHIGH 27 18 45 1 50 51 Cosmic_Gene G G A G G TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 57522 12 64436715 64436715 102 ALL diagnosis snv SLC46A3 missense L425P NM_181785 10-PARRPK SLC46A3 MISSENSE SNP Somatic -1 0.101 SQHIGH 5 13 18 0 28 28 Cosmic_Gene A A G A A TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 283537 13 29278107 29278107 22 ALL diagnosis snv TNFSF11 missense V277I NM_003701 10-PARRPK TNFSF11 MISSENSE SNP Somatic 12 0.401 SQHIGH 11 19 30 0 49 49 G G A G G TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 8600 13 43180929 43180929 52 ALL diagnosis snv TSC22D1-AS1 EXON E1_exon NM_183422 10-PARRPK LOC641467|TSC22D1 UTR|UTR5 SNP Somatic -6 0.066 SQHIGH 13 10 23 0 14 14 G G A G G TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 641467|8848 13 45150300 45150300 35 ALL diagnosis snv NOX5 missense P417S NM_024505 10-PARRPK NOX5 MISSENSE,UTR SNP Somatic 14 0.533 SQHIGH 13 18 31 0 26 26 Cosmic_Gene C C T C C TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 79400 15 69329428 69329428 41 ALL diagnosis snv MUC16 missense T12415A NM_024690 10-PARRPK MUC16 MISSENSE SNP Somatic PFAM:PF01390:SEA -10 0.048 SQHIGH 6 24 30 0 22 22 Cosmic_Gene T T C T T TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 94025 19 9021080 9021080 15 ALL diagnosis complex PANX1 frameshift S59_I60fs NM_015368 10-PARRPK PANX1 FRAMESHIFT Sub Somatic -1 0.539 SQHIGH 19 32 51 1 52 53 TCGATT TCGATT TGTCC TCGATT TCGATT TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 24145 11 93862653 93862658 57 ALL diagnosis complex PANX1 splice G61_E1splice NM_015368 10-PARRPK PANX1 DISRUPT Sub Somatic 4 0.912 SQHIGH 17 27 44 0 46 46 GTAAG GTAAG GA GTAAG GTAAG TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 24145 11 93862660 93862664 61 ALL diagnosis snv C1orf94 silent P565P NM_001134734 10-PASFGA C1orf94 SYNONYMOUS SNP Somatic -14 0.042 4 18 22 1 45 46 G G A G G TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 84970 1 34677981 34677981 15 ALL diagnosis snv EFCAB7 missense S259P NM_032437 10-PASFGA EFCAB7 MISSENSE SNP Somatic -2 0.088 SQHIGH 4 13 17 0 22 22 T T C T T TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 84455 1 63999858 63999858 15 ALL diagnosis snv KCNK1 missense N211K NM_002245 10-PASFGA KCNK1 MISSENSE SNP Somatic PFAM:PF07885:Ion_trans_2 15 0.563 SQHIGH 14 29 43 0 48 48 Cosmic_Gene C C A C C TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 3775 1 233802618 233802618 51 ALL diagnosis snv CXCR4 nonsense R338* NM_001008540 10-PASFGA CXCR4 NONSENSE SNP dbsnp.132:rs104893624 Somatic -4 0.078 SQHIGH 4 19 23 0 33 33 Cosmic_Gene G G A G G TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 7852 2 136872498 136872498 16 ALL diagnosis snv COL7A1 splice G1661_E54splice NM_000094 10-PASFGA MIR711|COL7A1 TSS-UPSTREAM|DISRUPT SNP Somatic 6 0.160 SQHIGH 8 9 17 0 30 30 Cosmic_Gene C C A C C TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 100313843|1294 3 48618086 48618086 41 ALL diagnosis snv SEMA6A missense R308H NM_020796 10-PASFGA SEMA6A MISSENSE SNP Somatic PFAM:PF01403:Sema 16 0.664 SQHIGH 23 20 43 0 25 25 Cosmic_Gene C C T C C TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 57556 5 115822484 115822484 59 ALL diagnosis snv GPR158 silent G776G NM_020752 10-PASFGA GPR158 SYNONYMOUS SNP Somatic 21 1.000 SQHIGH 19 14 33 0 29 29 Cosmic_Gene C C T C C TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 57512 10 25886883 25886883 67 ALL diagnosis snv DNAH10 missense I3213T NM_207437 10-PASFGA DNAH10 MISSENSE SNP Somatic PFAM:PF12777:MT -1 0.093 SQHIGH 10 37 47 0 56 56 Cosmic_Gene T T C T T TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 196385 12 124393984 124393984 37 ALL diagnosis snv ATP12A missense T297M NM_001676 10-PASFGA ATP12A MISSENSE SNP Somatic PFAM:PF00122:E1-E2_ATPase 18 0.863 SQHIGH 40 0 40 1 55 56 Cosmic_Gene C T T C C TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 479 13 25265210 25265210 256 ALL diagnosis snv OR4K13 silent S10S NM_001004714 10-PASFGA OR4K13 SYNONYMOUS SNP Somatic 11 0.312 SQHIGH 32 43 75 0 53 53 Cosmic_Gene C C T C C TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 390433 14 20502888 20502888 90 ALL diagnosis snv AHNAK2 silent D2441D NM_138420 10-PASFGA AHNAK2 SYNONYMOUS SNP Somatic 13 0.391 SQHIGH 29 14 43 0 25 25 Cosmic_Gene G G A G G TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 113146 14 105414465 105414465 82 ALL diagnosis snv CCDC105 missense A29V NM_173482 10-PASFGA CCDC105 MISSENSE SNP Somatic 14 0.471 SQHIGH 15 27 42 0 33 33 Cosmic_Gene C C T C C TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 126402 19 15121723 15121723 44 ALL diagnosis snv CFAP45 missense E235D NM_012337 10-PAUXZX CFAP45 MISSENSE SNP Somatic -3 0.083 SQHIGH 3 12 15 0 46 46 Cosmic_Gene C C A C C TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 25790 1 159856363 159856363 19 ALL diagnosis snv TRAK2 missense C902S NM_015049 10-PAUXZX TRAK2 MISSENSE SNP Somatic -6 0.066 SQHIGH 4 19 23 0 25 25 A A T A A TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 66008 2 202245307 202245307 13 ALL diagnosis snv PDE10A missense S228R NM_001130690 10-PAUXZX PDE10A MISSENSE SNP Somatic PFAM:PF01590:GAF 5 0.176 SQHIGH 12 17 29 0 49 49 Cosmic_Gene A A C A A TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 10846 6 165846471 165846471 59 ALL diagnosis snv WDFY4 missense A2769T NM_020945 10-PAUXZX WDFY4 MISSENSE SNP Somatic 16 0.683 SQHIGH 15 21 36 0 36 36 G G A G G TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 57705 10 50171968 50171968 53 ALL diagnosis snv FAM53B-AS1 EXON E1_exon NM_014661 10-PAUXZX LOC100506291|FAM53B UTR|INTRON SNP Somatic 14 0.529 SQHIGH 21 25 46 0 53 53 Cosmic_Gene A A C A A TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 100506291|9679 10 126402323 126402323 84 ALL diagnosis snv C12orf4 missense R289G NM_020374 10-PAUXZX C12orf4 MISSENSE SNP Somatic PFAM:PF10154:DUF2362 -8 0.056 SQHIGH 4 11 15 0 28 28 T T C T T TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 57102 12 4627392 4627392 20 ALL diagnosis snv RHCG splice_region S62_E2splice_region NM_016321 10-PAUXZX RHCG ACCEPTOR SNP Somatic -8 0.056 SQHIGH 4 20 24 0 37 37 Cosmic_Gene C C T C C TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 51458 15 90030220 90030220 17 ALL diagnosis snv COG7 silent I608I NM_153603 10-PAUXZX COG7 SYNONYMOUS SNP Somatic PFAM:PF10191:COG7 17 0.801 SQHIGH 13 21 34 0 59 59 G G A G G TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 91949 16 23409430 23409430 64 ALL diagnosis snv DPEP3 silent S412S NM_022357 10-PAUXZX DPEP3 SYNONYMOUS SNP Somatic -6 0.066 SQHIGH 4 25 29 0 49 49 Cosmic_Gene G G A G G TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 64180 16 68010065 68010065 18 ALL diagnosis snv CHST6 silent R265R NM_021615 10-PAUXZX CHST6 SYNONYMOUS SNP Somatic PFAM:PF00685:Sulfotransfer_1 2 0.134 SQHIGH 12 7 19 1 22 23 G G A G G TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 4166 16 75512932 75512932 43 ALL diagnosis snv DNAH17 missense E3043K NM_173628 10-PAUXZX DNAH17 MISSENSE SNP Somatic PFAM:PF12777:MT -6 0.066 SQHIGH 7 35 42 0 48 48 Cosmic_Gene C C T C C TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 8632 17 76458973 76458973 24 ALL diagnosis snv TRO missense G1040S NM_001039705 10-PAUXZX TRO INTRON,MISSENSE SNP Somatic 15 0.605 SQHIGH 13 15 28 1 50 51 Cosmic_Gene G G A G G TARGET-10-PAUXZX-09A-01D TARGET-10-PAUXZX-10A-01D 7216 X 54956275 54956275 58 ALL diagnosis ins SETD2 nonsense S968>*A NM_014159 10-PAIXSD SETD2 NONSENSE Ins Somatic 2 0.751 SQHIGH 54 21 75 0 75 75 Cosmic_Gene GCTT TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 29072 3 47163223 47163223 Somatic Illumina 231 72299 179478 252841 253236 4 253240 ALL diagnosis del IL20RA frameshift T188fs NM_014432 10-PAIXSD IL20RA FRAMESHIFT Del Somatic PFAM:PF09294:Interfer-bind 1 0.558 SQHIGH 27 29 56 0 55 55 Cosmic_Gene T T T T TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 53832 6 137330471 137330471 BadAssay Illumina 98 0 0 0 0 0 0 ALL diagnosis ins MARCH5 frameshift L6fs NM_017824 10-PAIXSD MARCH5|CPEB3 FRAMESHIFT|TSS-UPSTREAM Ins Somatic -8 0.218 SQHIGH 3 16 19 0 41 41 Cosmic_Gene G TARGET-10-PAIXSD-03A-01D TARGET-10-PAIXSD-14A-01D 54708|22849 10 94051268 94051268 15 ALL diagnosis ins PCDHA1 frameshift V799fs NM_031410 10-PALKMM PCDHA1 INTRON,NONSENSE,DONOR Ins Somatic -6 0.412 SQHIGH 11 11 22 1 27 28 Cosmic_Gene TT TARGET-10-PALKMM-03A-01D TARGET-10-PALKMM-14A-01D 56147 5 140168270 140168270 Somatic Illumina 38 35177 17137 52341 63481 0 63502 ALL diagnosis ins FLT1 frameshift L663fs NM_002019 10-PALUAH FLT1 FRAMESHIFT Ins Somatic -8 0.258 SQHIGH 12 16 28 0 17 17 Cosmic_Gene A TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 2321 13 28959149 28959149 Somatic Illumina 30 33832 25990 59886 53843 716 54608 ALL diagnosis del TOP2A splice_region K1363_E32splice_region NM_001067 10-PALZVV TOP2A ACCEPTOR Del Somatic -5 0.316 SQHIGH 21 7 28 0 9 9 Cosmic_Gene A A A A TARGET-10-PALZVV-03A-01D TARGET-10-PALZVV-14A-01D 7153 17 38548372 38548372 40 ALL diagnosis ins TRIB2 frameshift V141fs NM_021643 10-PANCVR LOC100652785|TRIB2 TSS-UPSTREAM|FRAMESHIFT,UTR Ins Somatic 2 0.783 SQHIGH 51 43 94 0 72 72 Cosmic_Gene GCCTTCCCCAAGGGCT TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 100652785|28951 2 12863536 12863536 162 ALL diagnosis ins KLRC4 frameshift E74fs NM_013431 10-PANCVR KLRC4|KLRC4-KLRK1 FRAMESHIFT|UTR5 Ins Somatic -3 0.434 SQHIGH 4 24 28 0 32 32 T TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 8302|100528032 12 10561574 10561574 14 ALL diagnosis ins TNK1 frameshift L253fs NM_003985 10-PANCVR TNK1 FRAMESHIFT Ins Somatic PFAM:PF03109:ABC1 -10 0.178 SQHIGH 4 14 18 0 22 22 Cosmic_Gene T TARGET-10-PANCVR-03A-01D TARGET-10-PANCVR-14A-01D 8711 17 7287465 7287465 15 ALL relapse del LOC100505795 EXON E2_exon NM_002585 10-PANCVR PBX1|LOC100505795 INTRON|UTR Del Somatic -1 0.401 SQHIGH 22 74 96 0 80 80 Cosmic_Gene GCTCTGTCTGTT GCTCTGTCTGTT GCTCTGTCTGTT GCTCTGTCTGTT TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 5087|100505795 1 164740693 164740704 63 ALL relapse ins TRIB2 frameshift V141fs NM_021643 10-PANCVR LOC100652785|TRIB2 TSS-UPSTREAM|FRAMESHIFT,UTR Ins Somatic 2 0.791 SQHIGH 31 52 83 0 72 72 Cosmic_Gene GCCTTCCCCAAGGGCT TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 100652785|28951 2 12863536 12863536 98 ALL relapse ins FASN frameshift V1160fs NM_004104 10-PANCVR FASN FRAMESHIFT Ins Somatic -8 0.231 SQHIGH 6 41 47 0 34 34 Cosmic_Gene T TARGET-10-PANCVR-04A-01D TARGET-10-PANCVR-14A-01D 2194 17 80044383 80044383 15 ALL diagnosis ins CCDC25 frameshift E155fs NM_018246 10-PANDWE CCDC25 NONSENSE Ins Somatic 1 0.708 SQHIGH 13 50 63 1 42 43 AT TARGET-10-PANDWE-03A-01D TARGET-10-PANDWE-14A-01D 55246 8 27605680 27605680 23 ALL relapse del PIWIL4 frameshift W469fs NM_152431 10-PANDWE PIWIL4 FRAMESHIFT Del Somatic -4 0.321 SQHIGH 4 23 27 0 29 29 Cosmic_Gene G G G G TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 143689 11 94334986 94334986 13 ALL relapse ins SPECC1 frameshift Q490fs NM_001033553 10-PANDWE SPECC1 FRAMESHIFT Ins Somatic -8 0.268 SQHIGH 5 23 28 0 26 26 Cosmic_Gene T TARGET-10-PANDWE-04A-01D TARGET-10-PANDWE-14A-01D 92521 17 20108831 20108831 15 ALL diagnosis ins INADL frameshift F1532fs NM_176877 10-PANEPX INADL FRAMESHIFT Ins Somatic -5 0.381 SQHIGH 7 43 56 1 57 61 Cosmic_Gene C TARGET-10-PANEPX-03A-01D TARGET-10-PANEPX-14A-01D 10207 1 62579858 62579858 17 ALL diagnosis ins ASAP2 frameshift K620fs NM_003887 10-PANEPX ASAP2 FRAMESHIFT Ins Somatic PFAM:PF12796:Ank_2 -10 0.190 SQHIGH 7 52 59 2 86 88 AC TARGET-10-PANEPX-03A-01D TARGET-10-PANEPX-14A-01D 8853 2 9519099 9519099 17 ALL diagnosis del LOC550113,SYT14P1 EXON E8_exon NM_207407 10-PANGIF TMPRSS11F|SYT14L INTRON|UTR Del Somatic -2 0.354 SQHIGH 12 14 26 1 28 29 Cosmic_Gene A A A A TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 389208|401135 4 68927375 68927375 37 ALL diagnosis ins ABCD1 frameshift Y527fs NM_000033 10-PANGIF ABCD1 FRAMESHIFT Ins Somatic -4 0.402 SQHIGH 31 35 66 0 56 56 TG TARGET-10-PANGIF-09A-01D TARGET-10-PANGIF-14A-01D 215 X 153005636 153005636 101 ALL diagnosis del STK10 proteinDel L774_R775>R NM_005990 10-PANIEU STK10 DELETE Del Somatic PFAM:PF12474:PKK -5 0.272 SQHIGH 5 16 21 0 25 25 Cosmic_Gene GCA GCA GCA GCA TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 6793 5 171484367 171484369 18 ALL diagnosis del BTG1 proteinDel L102_P108>P NM_001731 10-PANIEU BTG1 DELETE Del Somatic PFAM:PF07742:BTG -1 0.406 SQHIGH 19 10 29 1 58 59 GGTCAACCCAGAGTGTGA GGTCAACCCAGAGTGTGA GGTCAACCCAGAGTGTGA GGTCAACCCAGAGTGTGA TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 694 12 92538050 92538067 104 ALL diagnosis del BTG1 frameshift L98_E101fs NM_001731 10-PANIEU BTG1 FRAMESHIFT Del Somatic PFAM:PF07742:BTG -1 0.406 SQHIGH 18 9 27 1 71 72 CACTTGGGAG CACTTGGGAG CACTTGGGAG CACTTGGGAG TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 694 12 92538071 92538080 115 ALL diagnosis ins ZBED4 proteinIns H603>HP NM_014838 10-PANIEU ZBED4 INSERT Ins Somatic PFAM:PF02892:zf-BED -4 0.381 SQHIGH 32 25 57 3 72 75 Cosmic_Gene TCC TARGET-10-PANIEU-09A-01D TARGET-10-PANIEU-14A-01D 9889 22 50279118 50279118 112 ALL relapse del COL19A1 frameshift G697fs NM_001858 10-PANKAK COL19A1 FRAMESHIFT Del Somatic -10 0.211 SQHIGH 7 37 44 0 21 21 Cosmic_Gene G G G G TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 1310 6 70866028 70866028 13 ALL relapse del APAF1 frameshift K589fs NM_013229 10-PANKAK APAF1 INTRON,FRAMESHIFT Del Somatic -5 0.271 SQHIGH 10 20 30 1 30 31 Cosmic_Gene A A A A TARGET-10-PANKAK-04A-01D TARGET-10-PANKAK-10A-01D 317 12 99071207 99071207 26 ALL diagnosis del SPG11 frameshift E1761fs NM_025137 10-PANKAK SPG11 FRAMESHIFT Del Somatic -6 0.259 SQHIGH 9 35 44 1 49 50 Cosmic_Gene CT CT CT CT TARGET-10-PANKAK-09A-01D TARGET-10-PANKAK-10A-01D 80208 15 44876595 44876596 24 ALL diagnosis ins GLT6D1 frameshift K68fs NM_182974 10-PANKDT GLT6D1 FRAMESHIFT Ins Somatic PFAM:PF01644:Chitin_synth_1 -5 0.363 SQHIGH 8 36 44 1 56 57 Cosmic_Gene T TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 360203 9 138517967 138517967 23 ALL diagnosis ins ETV6 frameshift A93fs NM_001987 10-PANKDT ETV6 FRAMESHIFT Ins Somatic -8 0.228 SQHIGH 8 21 29 0 18 18 Cosmic_Gene CCGC TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 2120 12 11992187 11992187 19 ALL diagnosis ins KMT2D frameshift Q3935fs NM_003482 10-PANKDT KMT2D FRAMESHIFT Ins Somatic -8 0.228 SQHIGH 6 5 11 0 18 19 Cosmic_Gene GG TARGET-10-PANKDT-09A-01D TARGET-10-PANKDT-14A-01D 8085 12 49426684 49426684 30 ALL diagnosis ins ASTN1 frameshift P457fs NM_004319 10-PANKGK ASTN1 FRAMESHIFT Ins Somatic -5 0.345 SQHIGH 4 22 26 0 28 28 Cosmic_Gene A TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 460 1 176992607 176992607 13 ALL diagnosis ins KMT2D frameshift S2488fs NM_003482 10-PANKGK KMT2D FRAMESHIFT Ins Somatic -5 0.345 SQHIGH 20 24 44 0 38 38 Cosmic_Gene GCCC TARGET-10-PANKGK-09A-01D TARGET-10-PANKGK-14A-01D 8085 12 49434090 49434090 65 ALL diagnosis ins STRA6 splice_region G38_E2splice_region NM_001142617 10-PANKMB STRA6 DONOR Ins Somatic 2 0.766 SQHIGH 11 21 32 0 67 67 Cosmic_Gene AGGGACC TARGET-10-PANKMB-03A-01D TARGET-10-PANKMB-14A-01D 64220 15 74494493 74494493 60 ALL diagnosis ins STRA6 splice_region G38_E2splice_region NM_001142617 10-PANKMB STRA6 DONOR Ins Somatic 2 0.758 SQHIGH 17 18 35 0 67 67 Cosmic_Gene AGGGACC TARGET-10-PANKMB-09A-01D TARGET-10-PANKMB-14A-01D 64220 15 74494493 74494493 93 ALL diagnosis ins VWF frameshift P653fs NM_000552 10-PANKRG VWF FRAMESHIFT Ins Somatic PFAM:PF01826:TIL -9 0.182 SQHIGH 4 17 21 0 33 34 Cosmic_Gene G TARGET-10-PANKRG-03A-01D TARGET-10-PANKRG-14A-01D 7450 12 6161936 6161936 17 ALL diagnosis del FBXO40 proteinDel A288_P289>A NM_016298 10-PANLIC FBXO40 DELETE+ Del Somatic -5 0.331 SQHIGH 5 41 46 0 39 39 Cosmic_Gene CCC CCC CCC CCC TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 51725 3 121341139 121341141 14 ALL diagnosis ins C6orf47 frameshift E161fs NM_021184 10-PANLIC C6orf47 FRAMESHIFT Ins Somatic -4 0.419 SQHIGH 18 15 33 2 39 41 Cosmic_Gene C TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 57827 6 31627243 31627243 58 ALL diagnosis ins GLTSCR1L frameshift G220fs NM_015349 10-PANLIC GLTSCR1L FRAMESHIFT Ins Somatic -1 0.573 SQHIGH 20 22 42 1 56 57 Cosmic_Gene GA TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 23506 6 42796729 42796729 77 ALL diagnosis ins RNF38 frameshift E484fs NM_022781 10-PANLIC RNF38 FRAMESHIFT Ins Somatic 1 0.686 SQHIGH 17 11 28 1 27 28 Cosmic_Gene CGACGGGA TARGET-10-PANLIC-09B-01D TARGET-10-PANLIC-10A-01D 152006 9 36342356 36342356 55 ALL diagnosis ins NF1 frameshift H2291fs NM_000267 10-PANPJI NF1 FRAMESHIFT Ins Somatic 6 1.000 SQHIGH 21 20 41 0 44 44 Cosmic_Gene TT TARGET-10-PANPJI-09B-01D TARGET-10-PANPJI-14A-01D 4763 17 29667537 29667537 82 ALL diagnosis ins IFI16 frameshift R370fs NM_005531 10-PANPJW IFI16 FRAMESHIFT Ins Somatic PFAM:PF02760:HIN -7 0.295 SQHIGH 5 21 26 0 24 24 Cosmic_Gene A TARGET-10-PANPJW-09A-01D TARGET-10-PANPJW-14A-01D 3428 1 158990267 158990267 15 ALL diagnosis ins ARID5A frameshift F465fs NM_212481 10-PANRDC ARID5A FRAMESHIFT Ins Somatic 3 0.838 SQHIGH 10 21 31 0 40 40 CC TARGET-10-PANRDC-03A-01D TARGET-10-PANRDC-14A-01D 10865 2 97217660 97217660 40 ALL diagnosis ins ZNF654 frameshift Y268fs NM_018293 10-PANRWG ZNF654|CGGBP1 FRAMESHIFT|INTRON Ins Somatic -6 0.328 SQHIGH 19 31 50 1 44 45 Cosmic_Gene T TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 55279|8545 3 88189263 88189263 51 ALL diagnosis del GABRB1 frameshift T176fs NM_000812 10-PANRWG GABRB1 FRAMESHIFT Del Somatic PFAM:PF02931:Neur_chan_LBD -9 0.251 SQHIGH 4 33 41 0 49 50 Cosmic_Gene C C C C TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 2560 4 47322209 47322209 15 ALL diagnosis del KIAA1429 proteinDel E250_D251>D NM_015496 10-PANRWG KIAA1429 DELETE Del Somatic -1 0.437 SQHIGH 28 21 49 0 56 56 Cosmic_Gene TCT TCT TCT TCT TARGET-10-PANRWG-09B-01D TARGET-10-PANRWG-14A-01D 25962 8 95541426 95541428 118 ALL diagnosis ins SCN10A frameshift F708fs NM_006514 10-PANSBR SCN10A FRAMESHIFT Ins Somatic PFAM:PF00520:Ion_trans -8 0.218 SQHIGH 3 10 13 0 22 22 Cosmic_Gene A TARGET-10-PANSBR-09A-01D TARGET-10-PANSBR-14A-01D 6336 3 38781161 38781161 14 ALL relapse del MME frameshift V121_E124fs NM_000902 10-PANSDA MME NONSENSE Del Somatic 0 0.468 SQHIGH 16 23 39 0 45 45 Cosmic_Gene TCCTTCAAGAA TCCTTCAAGAA TCCTTCAAGAA TCCTTCAAGAA TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 4311 3 154834271 154834281 62 ALL relapse del MME proteinDel K126_A132del NM_000902 10-PANSDA MME DELETE Del Somatic -1 0.400 SQHIGH 15 21 36 0 55 55 Cosmic_Gene AAAACTGAAGATATAGTAGCA AAAACTGAAGATATAGTAGCA AAAACTGAAGATATAGTAGCA AAAACTGAAGATATAGTAGCA TARGET-10-PANSDA-04A-01D TARGET-10-PANSDA-14A-01D 4311 3 154834285 154834305 70 ALL diagnosis del MME frameshift V121_E124fs NM_000902 10-PANSDA MME NONSENSE Del Somatic 0 0.471 SQHIGH 19 20 39 0 45 45 Cosmic_Gene TCCTTCAAGAA TCCTTCAAGAA TCCTTCAAGAA TCCTTCAAGAA TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 4311 3 154834271 154834281 77 ALL diagnosis del MME proteinDel K126_A132del NM_000902 10-PANSDA MME DELETE Del Somatic -1 0.402 SQHIGH 17 27 44 0 55 55 Cosmic_Gene AAAACTGAAGATATAGTAGCA AAAACTGAAGATATAGTAGCA AAAACTGAAGATATAGTAGCA AAAACTGAAGATATAGTAGCA TARGET-10-PANSDA-09A-01D TARGET-10-PANSDA-14A-01D 4311 3 154834285 154834305 69 ALL relapse del UACA splice_region C408_E16splice_region NM_018003 10-PANSHK UACA ACCEPTOR Del Somatic -7 0.272 SQHIGH 11 14 25 1 34 35 Cosmic_Gene A A A A TARGET-10-PANSHK-04A-01D TARGET-10-PANSHK-14A-01D 55075 15 70961810 70961810 39 ALL diagnosis ins ITGAL splice_region I456_E13splice_region NM_002209 10-PANSHK ITGAL ACCEPTOR Ins Somatic -6 0.355 SQHIGH 18 54 72 0 85 85 Cosmic_Gene GTAGAACAAATCCCC TARGET-10-PANSHK-09A-01D TARGET-10-PANSHK-14A-01D 3683 16 30506025 30506025 67 ALL diagnosis ins TUBE1 frameshift Q3fs NM_016262 10-PANSIA C6orf225|TUBE1 TSS-UPSTREAM|FRAMESHIFT Ins Somatic -7 0.272 SQHIGH 11 36 50 0 26 28 Cosmic_Gene G TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 619208|51175 6 112408630 112408630 23 ALL diagnosis ins LRRIQ1 frameshift N578fs NM_001079910 10-PANSIA LRRIQ1 FRAMESHIFT Ins Somatic -6 0.332 SQHIGH 5 24 29 0 28 28 Cosmic_Gene A TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 84125 12 85450305 85450305 15 ALL diagnosis del LRRIQ1 frameshift Q580fs NM_001079910 10-PANSIA LRRIQ1 FRAMESHIFT Del Somatic -4 0.337 SQHIGH 5 22 27 0 23 23 Cosmic_Gene A A A A TARGET-10-PANSIA-09A-01D TARGET-10-PANSIA-10A-01D 84125 12 85450310 85450310 14 ALL diagnosis ins SCAP frameshift E145fs NM_012235 10-PANSPW SCAP FRAMESHIFT Ins Somatic 4 0.900 SQHIGH 7 39 46 1 48 49 Cosmic_Gene G TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 22937 3 47469132 47469132 16 ALL diagnosis ins EFCAB1 splice_region F20_E1splice_region NM_024593 10-PANSPW EFCAB1 DONOR Ins Somatic -1 0.523 SQHIGH 40 61 101 3 102 105 A TARGET-10-PANSPW-09A-01D TARGET-10-PANSPW-10A-01D 79645 8 49647650 49647650 110 ALL diagnosis ins USP42 frameshift A1224fs NM_032172 10-PANSUL USP42 FRAMESHIFT Ins Somatic -3 0.437 SQHIGH 8 17 25 3 29 32 Cosmic_Gene C TARGET-10-PANSUL-09A-01D TARGET-10-PANSUL-10A-01D 84132 7 6196415 6196415 15 ALL diagnosis del TOP2B proteinDel K1257del NM_001068 10-PANSXG TOP2B DELETE Del Somatic -5 0.306 SQHIGH 9 12 21 0 24 24 Cosmic_Gene CTT CTT CTT CTT TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 7155 3 25654006 25654008 35 ALL diagnosis ins PAX5 splice_region G367_E9splice_region NM_016734 10-PANSXG PAX5 DONOR Ins Somatic 2 0.773 SQHIGH 39 3 42 0 47 47 Cosmic_Gene CCCT TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 5079 9 36846834 36846834 214 ALL relapse ins FBXO38 frameshift Q659fs NM_030793 10-PANUKN FBXO38 FRAMESHIFT Ins Somatic -9 0.241 SQHIGH 5 31 36 0 28 28 Cosmic_Gene C TARGET-10-PANUKN-04A-01D TARGET-10-PANUKN-10A-01D 81545 5 147806834 147806834 13 ALL diagnosis ins LIN28A splice_region G11_E2splice_region NM_024674 10-PANUKN LIN28A ACCEPTOR Ins Somatic 6 0.987 SQHIGH 9 20 29 1 36 37 Cosmic_Gene T TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 79727 1 26737871 26737871 27 ALL diagnosis del VANGL1 frameshift I423fs NM_138959 10-PANUKN VANGL1 FRAMESHIFT Del Somatic PFAM:PF06638:Strabismus 0 0.515 SQHIGH 8 19 27 3 32 35 Cosmic_Gene T T T T TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 81839 1 116228102 116228102 15 ALL diagnosis del APTR EXON E1_exon NM_198467 10-PANUKN LOC100505854|RSBN1L UTR|INTRON Del Somatic -9 0.240 SQHIGH 8 12 20 0 17 17 Cosmic_Gene GCCGCCCCCTGGCGCCCA GCCGCCCCCTGGCGCCCA GCCGCCCCCTGGCGCCCA GCCGCCCCCTGGCGCCCA TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 100505854|222194 7 77326419 77326436 25 ALL diagnosis del MAGOHB proteinDel A4_S5>G NM_018048 10-PANUKN MAGOHB DELETE+ Del Somatic -1 0.439 SQHIGH 24 34 58 0 55 55 Cosmic_Gene TAG TAG TAG TAG TARGET-10-PANUKN-09A-01D TARGET-10-PANUKN-10A-01D 55110 12 10766119 10766121 82 ALL diagnosis ins NF1 frameshift Q1494fs NM_000267 10-PANUSN NF1 FRAMESHIFT Ins Somatic 4 0.893 SQHIGH 10 17 27 0 42 42 Cosmic_Gene GGACT TARGET-10-PANUSN-09A-01D TARGET-10-PANUSN-14A-01D 4763 17 29587499 29587499 46 ALL diagnosis ins SDF2 frameshift G53fs NM_006923 10-PANVYR SDF2 FRAMESHIFT Ins Somatic -2 0.542 SQHIGH 4 25 29 0 32 32 T TARGET-10-PANVYR-03A-01D TARGET-10-PANVYR-14A-01D 6388 17 26982493 26982493 13 ALL relapse del APBB2 splice_region A7_E6splice_region NM_004307 10-PANVYR APBB2 ACCEPTOR Del Somatic -5 0.285 SQHIGH 10 9 19 0 20 20 Cosmic_Gene A A A A TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 323 4 41016422 41016422 38 ALL relapse ins TARBP2 frameshift G285fs NM_134323 10-PANVYR TARBP2 FRAMESHIFT Ins Somatic -8 0.260 SQHIGH 7 17 24 1 26 27 Cosmic_Gene TT TARGET-10-PANVYR-04A-01D TARGET-10-PANVYR-14A-01D 6895 12 53899544 53899544 18 ALL diagnosis ins ELAVL4 proteinIns L237>LH NM_021952 10-PANWHJ ELAVL4 INSERT Ins Somatic -2 0.534 SQHIGH 5 38 46 0 41 46 Cosmic_Gene CAC TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 1996 1 50661435 50661435 15 ALL diagnosis del BZW2 frameshift R255fs NM_001159767 10-PANWHJ BZW2 FRAMESHIFT,UTR Del Somatic -5 0.286 SQHIGH 4 14 18 0 21 21 Cosmic_Gene G G G G TARGET-10-PANWHJ-09A-01D TARGET-10-PANWHJ-10A-01D 28969 7 16734571 16734571 14 ALL diagnosis ins VPS13B frameshift S2632fs NM_152564 10-PANWHW VPS13B FRAMESHIFT Ins Somatic PFAM:PF06650:DUF1162 -4 0.399 SQHIGH 6 17 23 0 26 26 Cosmic_Gene T TARGET-10-PANWHW-03A-01D TARGET-10-PANWHW-14A-01D 157680 8 100796658 100796658 21 ALL diagnosis del ZNF281 proteinDel H141_H144>H NM_012482 10-PANWVW ZNF281 DELETE Del Somatic -4 0.314 SQHIGH 11 17 28 1 29 30 Cosmic_Gene TGGTGGTGG TGGTGGTGG TGGTGGTGG TGGTGGTGG TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 23528 1 200378403 200378411 31 ALL diagnosis del COX7A2 splice_region L38_E1splice_region NM_001865 10-PANWVW COX7A2 DONOR Del Somatic -9 0.240 SQHIGH 4 31 35 0 47 47 T T T T TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 1347 6 75953429 75953429 15 ALL diagnosis ins PLXDC2 frameshift R391fs NM_032812 10-PANWVW PLXDC2 FRAMESHIFT Ins Somatic -3 0.437 SQHIGH 19 24 43 0 30 30 Cosmic_Gene TTTCC TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 84898 10 20506404 20506404 53 ALL diagnosis ins USP9X nonsense D537>D*AG NM_001039590 10-PANWVW USP9X NONSENSE Ins Somatic 3 0.806 SQHIGH 22 1 23 0 24 24 Cosmic_Gene TAGGCGGGC TARGET-10-PANWVW-09A-01D TARGET-10-PANWVW-10A-01D 8239 X 41007813 41007813 118 ALL diagnosis ins KLHL2 frameshift P8fs NM_001161521 10-PANWYK KLHL2 INTRON,FRAMESHIFT,UTR5 Ins Somatic -8 0.250 SQHIGH 11 66 77 0 48 48 G TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 11275 4 166131318 166131318 24 ALL diagnosis del TNK1 frameshift S255fs NM_003985 10-PANWYK TNK1 FRAMESHIFT Del Somatic PFAM:PF03109:ABC1 -6 0.283 SQHIGH 9 24 33 0 16 16 Cosmic_Gene T T T T TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 8711 17 7287469 7287469 17 ALL diagnosis ins ASXL1 frameshift G643fs NM_015338 10-PANWYK ASXL1 FRAMESHIFT Ins Somatic -9 0.212 SQHIGH 10 12 22 0 34 34 COSMIC:mut:34210 Cosmic_Gene G TARGET-10-PANWYK-03A-01D TARGET-10-PANWYK-14A-01D 171023 20 31022441 31022441 47 ALL diagnosis ins FAM114A1 frameshift T536fs NM_138389 10-PANXDB FAM114A1 FRAMESHIFT,UTR Ins Somatic -8 0.212 SQHIGH 5 17 22 0 20 20 Cosmic_Gene A TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 92689 4 38945093 38945093 15 ALL diagnosis ins KLHL2 frameshift P8fs NM_001161521 10-PANXDB KLHL2 INTRON,FRAMESHIFT,UTR5 Ins Somatic -3 0.442 SQHIGH 11 65 76 0 61 61 G TARGET-10-PANXDB-03A-01D TARGET-10-PANXDB-14A-01D 11275 4 166131318 166131318 30 ALL diagnosis ins USP10 frameshift M439fs NM_005153 10-PANYEJ USP10 FRAMESHIFT Ins Somatic PFAM:PF00443:UCH -2 0.498 SQHIGH 19 16 35 0 52 52 A TARGET-10-PANYEJ-09A-01D TARGET-10-PANYEJ-14A-01D 9100 16 84793001 84793001 92 ALL relapse del IL15RA frameshift H90fs NM_001256765 10-PANYGB IL15RA INTRON Del Somatic 1 0.588 SQHIGH 19 52 71 0 64 64 G G G G TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 3601 10 6010815 6010815 59 ALL relapse ins GOT2 splice_region W340_E9splice_region NM_002080 10-PANYGB GOT2 ACCEPTOR Ins Somatic 0 0.666 SQHIGH 5 45 50 0 35 36 Cosmic_Gene A TARGET-10-PANYGB-04A-01D TARGET-10-PANYGB-14A-01D 2806 16 58743475 58743475 12 ALL relapse del NDUFS8 frameshift S30fs NM_002496 10-PANYYV MIR4691|NDUFS8 TSS-UPSTREAM|FRAMESHIFT Del Somatic -6 0.289 SQHIGH 4 20 24 0 36 36 Cosmic_Gene T T T T TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 100616403|4728 11 67799784 67799784 17 ALL relapse del NLRX1 frameshift P268fs NM_024618 10-PANYYV NLRX1 FRAMESHIFT Del Somatic PFAM:PF00485:PRK -2 0.387 SQHIGH 11 39 50 1 65 66 Cosmic_Gene A A A A TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 79671 11 119044762 119044762 34 ALL relapse ins SERINC4 frameshift S25fs NM_001258031 10-PANYYV SERINC4|SERF2-C15ORF63|C15orf63 UTR5|INTRON|TSS-UPSTREAM Ins Somatic -8 0.268 SQHIGH 3 7 10 0 19 19 T TARGET-10-PANYYV-04A-01D TARGET-10-PANYYV-10A-01D 619189|100529067|25764 15 44092111 44092111 15 ALL diagnosis ins FAM135B frameshift I504fs NM_015912 10-PANYZE FAM135B FRAMESHIFT Ins Somatic 5 0.933 SQHIGH 16 20 36 2 41 43 Cosmic_Gene T TARGET-10-PANYZE-09A-01D TARGET-10-PANYZE-14A-01D 51059 8 139165207 139165207 46 ALL relapse del WDR3 splice_region K57_E2splice_region NM_006784 10-PANZPJ WDR3|GDAP2 INTRON|TSS-UPSTREAM Del Somatic -1 0.454 SQHIGH 23 21 44 0 47 47 Cosmic_Gene A A A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 10885|54834 1 118476122 118476122 90 ALL relapse del FETUB frameshift S143fs NM_014375 10-PANZPJ FETUB FRAMESHIFT Del Somatic -4 0.325 SQHIGH 12 22 34 3 40 43 Cosmic_Gene A A A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 26998 3 186362544 186362544 27 ALL relapse del FRA10AC1 splice_region Q302_E14splice_region NM_145246 10-PANZPJ FRA10AC1 ACCEPTOR Del dbsnp.131:rs79307310 Somatic -7 0.265 SQHIGH 9 6 15 0 20 20 A A A A TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 118924 10 95429632 95429632 41 ALL relapse del HIF1A-AS2 EXON E15_exon NM_001530 10-PANZPJ HIF1A UTR3 Del Somatic -6 0.279 SQHIGH 7 6 13 1 19 20 Cosmic_Gene T T T T TARGET-10-PANZPJ-04A-01D TARGET-10-PANZPJ-14A-01D 3091 14 62214204 62214204 26 ALL diagnosis del RCC1 frameshift P18_K19fs NM_001048194 10-PANZPJ RCC1 FRAMESHIFT,UTR Del Somatic -1 0.426 SQHIGH 17 26 43 1 45 46 Cosmic_Gene CAAA CAAA CAAA CAAA TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 1104 1 28856432 28856435 52 ALL diagnosis del RCC1 frameshift S20_K21fs NM_001048194 10-PANZPJ RCC1 FRAMESHIFT,UTR Del Somatic 0 0.501 SQHIGH 16 20 36 1 37 38 Cosmic_Gene CA CA CA CA TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 1104 1 28856438 28856439 49 ALL diagnosis ins EEF1D frameshift H210fs NM_032378 10-PANZPJ EEF1D INTRON,FRAMESHIFT Ins Somatic -3 0.460 SQHIGH 6 20 26 1 31 32 Cosmic_Gene GC TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 1936 8 144671622 144671622 16 ALL relapse ins ENTPD3-AS1 EXON E2_exon NM_001248 10-PANZXC ENTPD3-AS1|ENTPD3 UTR|INTRON Ins Somatic -6 0.381 SQHIGH 22 18 45 2 39 48 Cosmic_Gene A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 285266|956 3 40433193 40433193 64 ALL relapse ins MORC1 frameshift G601fs NM_014429 10-PANZXC MORC1 FRAMESHIFT Ins Somatic 1 0.735 SQHIGH 12 8 20 0 27 27 Cosmic_Gene C TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 27136 3 108724127 108724127 56 ALL relapse del CYP7B1 splice_region G87_E3splice_region NM_004820 10-PANZXC CYP7B1 ACCEPTOR Del Somatic -7 0.272 SQHIGH 12 6 18 0 11 11 Cosmic_Gene A A A A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 9420 8 65528843 65528843 34 ALL relapse ins KCNJ2 frameshift F98fs NM_000891 10-PANZXC KCNJ2 FRAMESHIFT Ins Somatic PFAM:PF07885:Ion_trans_2 -5 0.421 SQHIGH 31 14 45 3 38 41 T TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 3759 17 68171471 68171471 87 ALL relapse del BRD4 frameshift P46fs NM_058243 10-PANZXC BRD4 FRAMESHIFT Del Somatic -1 0.475 SQHIGH 17 18 35 2 46 48 Cosmic_Gene G G G G TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 23476 19 15383774 15383774 57 ALL relapse ins UCKL1-AS1 EXON E1_exon NM_017859 10-PANZXC UCKL1-AS1|UCKL1 UTR|INTRON,TSS-UPSTREAM Ins Somatic -8 0.290 SQHIGH 10 14 24 2 30 32 A TARGET-10-PANZXC-04A-01D TARGET-10-PANZXC-10A-01D 100113386|54963 20 62586441 62586441 27 ALL diagnosis ins RUVBL1 splice L172_E5splice NM_003707 10-PANZXC RUVBL1 ACCEPTOR Ins Somatic -9 0.248 SQHIGH 6 11 17 2 22 24 Cosmic_Gene A TARGET-10-PANZXC-09A-01D TARGET-10-PANZXC-10A-01D 8607 3 127820493 127820493 14 ALL diagnosis ins ILDR2 frameshift S381fs NM_199351 10-PANZXZ ILDR2 FRAMESHIFT Ins Somatic -10 0.166 SQHIGH 5 20 25 0 18 18 Cosmic_Gene G TARGET-10-PANZXZ-09A-01D TARGET-10-PANZXZ-14A-01D 387597 1 166891897 166891897 13 ALL relapse ins ENTPD3 frameshift S404fs NM_001248 10-PAPACP ENTPD3-AS1|ENTPD3 INTRON|FRAMESHIFT Ins Somatic PFAM:PF01150:GDA1_CD39 -10 0.191 SQHIGH 5 17 22 0 23 23 Cosmic_Gene GTCAG TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 285266|956 3 40464887 40464887 17 ALL relapse ins KCNQ1OT1 EXON E10_exon NM_000218 10-PAPACP KCNQ1 INTRON Ins Somatic -10 0.191 SQHIGH 5 29 34 0 37 37 Cosmic_Gene T TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 3784 11 2655120 2655120 17 ALL relapse ins LARGE-AS1 EXON E3_exon NM_004737 10-PAPACP LOC100506195|LARGE UTR|INTRON Ins Somatic -6 0.364 SQHIGH 5 57 62 0 58 58 Cosmic_Gene TTG TARGET-10-PAPACP-04A-01D TARGET-10-PAPACP-14A-01D 100506195|9215 22 34140258 34140258 15 ALL relapse del GOLGB1 frameshift K2682_E2683fs NM_004487 10-PAPAGK GOLGB1 NONSENSE Del Somatic 2 0.702 SQHIGH 23 58 81 0 83 83 Cosmic_Gene TTCT TTCT TTCT TTCT TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 2804 3 121410147 121410150 78 ALL diagnosis ins KAT6A proteinIns E1557>GIE NM_001099412 10-PAPAIZ KAT6A INSERT Ins Somatic -1 0.574 SQHIGH 14 26 40 3 36 39 CAATGC TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 7994 8 41791068 41791068 25 ALL diagnosis ins PAX5 frameshift P321fs NM_016734 10-PAPAIZ PAX5 FRAMESHIFT Ins Somatic PFAM:PF12403:Pax2_C -7 0.291 SQHIGH 18 18 36 1 26 27 COSMIC:mut:85890 Cosmic_Gene G TARGET-10-PAPAIZ-09A-01D TARGET-10-PAPAIZ-10A-01D 5079 9 36882049 36882049 44 ALL diagnosis del KIAA0020 frameshift N26fs NM_014878 10-PAPBES KIAA0020 FRAMESHIFT Del Somatic -2 0.439 SQHIGH 4 25 29 0 32 32 Cosmic_Gene T T T T TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 9933 9 2838431 2838431 13 ALL diagnosis ins PCDHGB6 frameshift I471fs NM_018926 10-PAPBFN PCDHGB5|PCDHGB4|PCDHGA6|PCDHGB2|PCDHGA10|PCDHGA3|PCDHGA8|PCDHGB3|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGB6 INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|FRAMESHIFT Ins Somatic 5 0.910 SQHIGH 11 22 33 1 36 37 Cosmic_Gene T TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 56101|8641|56109|56103|56106|56112|9708|56102|56111|56107|56104|56108|56113|56110|56114|56100 5 140789180 140789180 32 ALL diagnosis del SIPA1L3 frameshift L612fs NM_015073 10-PAPBFN SIPA1L3 NONSENSE Del Somatic -5 0.299 SQHIGH 4 9 13 0 15 15 Cosmic_Gene C C C C TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 23094 19 38590770 38590770 15 ALL diagnosis ins ALDH1A1 splice T105_E4splice NM_000689 10-PAPBSE ALDH1A1 ACCEPTOR Ins Somatic -6 0.307 SQHIGH 6 38 44 0 32 32 Cosmic_Gene A TARGET-10-PAPBSE-09A-01D TARGET-10-PAPBSE-14A-01D 216 9 75543940 75543940 15 ALL diagnosis ins LRCH3 frameshift Q518fs NM_032773 10-PAPBSY LRCH3 FRAMESHIFT Ins Somatic -10 0.167 SQHIGH 5 16 21 1 35 36 Cosmic_Gene A TARGET-10-PAPBSY-09A-01D TARGET-10-PAPBSY-10A-01D 84859 3 197579453 197579453 17 ALL diagnosis ins TBCC frameshift F60fs NM_003192 10-PAPBZK TBCC FRAMESHIFT Ins Somatic -7 0.245 SQHIGH 4 42 48 0 54 54 A TARGET-10-PAPBZK-03A-01D TARGET-10-PAPBZK-10A-01D 6903 6 42713632 42713632 14 ALL diagnosis del ZNF598 frameshift R140fs NM_178167 10-PAPBZK ZNF598 FRAMESHIFT Del Somatic -4 0.311 SQHIGH 6 24 30 0 33 33 Cosmic_Gene C C C C TARGET-10-PAPBZK-03A-01D TARGET-10-PAPBZK-10A-01D 90850 16 2053037 2053037 21 ALL diagnosis ins C17orf53 proteinIns R116>RVT NM_024032 10-PAPCUR C17orf53 INSERT Ins Somatic -7 0.362 SQHIGH 10 39 49 0 26 26 AGTGAC TARGET-10-PAPCUR-09A-01D TARGET-10-PAPCUR-10A-01D 78995 17 42225518 42225518 20 ALL relapse ins ALMS1-IT1 EXON E9_exon NM_015120 10-PAPCVZ ALMS1 INTRON Ins Somatic -9 0.230 SQHIGH 9 19 28 1 29 30 Cosmic_Gene A TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 7840 2 73684268 73684268 24 ALL relapse del CBL proteinDel P543del NM_005188 10-PAPCVZ CBL DELETE Del Somatic 0 0.509 SQHIGH 15 34 49 1 52 53 Cosmic_Gene CCA CCA CCA CCA TARGET-10-PAPCVZ-04A-01D TARGET-10-PAPCVZ-10A-01D 867 11 119155962 119155964 43 ALL diagnosis del CBL proteinDel P543del NM_005188 10-PAPCVZ CBL DELETE Del Somatic 1 0.589 SQHIGH 18 42 60 1 52 53 Cosmic_Gene CCA CCA CCA CCA TARGET-10-PAPCVZ-09A-01D TARGET-10-PAPCVZ-10A-01D 867 11 119155962 119155964 45 ALL relapse del ETV6 frameshift K99_F102fs NM_001987 10-PAPDJM ETV6 FRAMESHIFT Del Somatic -1 0.602 SQHIGH 25 26 51 0 35 35 Cosmic_Gene AAAGAGGACTT AAAGAGGACTT AAAGAGGACTT AAAGAGGACTT TARGET-10-PAPDJM-04A-01D TARGET-10-PAPDJM-10A-01D 2120 12 11992205 11992215 71 ALL diagnosis ins WDR78 frameshift T830fs NM_024763 10-PAPDJM WDR78 FRAMESHIFT Ins Somatic -7 0.451 SQHIGH 3 11 14 0 32 33 Cosmic_Gene T TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 79819 1 67288051 67288051 16 ALL diagnosis del TNFSF13B frameshift S58fs NM_006573 10-PAPDJM TNFSF13B FRAMESHIFT Del Somatic -8 0.258 SQHIGH 6 25 31 0 20 20 T T T T TARGET-10-PAPDJM-09A-01D TARGET-10-PAPDJM-10A-01D 10673 13 108922415 108922415 14 ALL relapse del ARFGAP2 frameshift S458fs NM_032389 10-PAPDKJ ARFGAP2 FRAMESHIFT Del Somatic -9 0.220 SQHIGH 3 5 8 0 18 18 Cosmic_Gene A A A A TARGET-10-PAPDKJ-04A-01D TARGET-10-PAPDKJ-10A-01D 84364 11 47188109 47188109 17 ALL diagnosis del C11orf16 frameshift G426fs NM_020643 10-PAPDNB C11orf16 FRAMESHIFT Del Somatic -7 0.263 SQHIGH 3 17 20 0 38 40 Cosmic_Gene C C C C TARGET-10-PAPDNB-03A-01D TARGET-10-PAPDNB-10A-01D 56673 11 8942989 8942989 14 ALL diagnosis del FILIP1 frameshift A355fs NM_015687 10-PAPDUF FILIP1 FRAMESHIFT Del Somatic 2 0.659 SQHIGH 28 52 80 0 60 60 Cosmic_Gene C C C C TARGET-10-PAPDUF-09A-01D TARGET-10-PAPDUF-10A-01D 27145 6 76024485 76024485 79 ALL relapse ins NIPBL frameshift L1366fs NM_133433 10-PAPDUV NIPBL FRAMESHIFT Ins Somatic -8 0.244 SQHIGH 10 8 18 0 18 18 Cosmic_Gene A TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 25836 5 37007434 37007434 38 ALL relapse del KCNMA1 frameshift L1079fs NM_001014797 10-PAPDUV KCNMA1 FRAMESHIFT Del Somatic 1 0.581 SQHIGH 17 19 36 0 56 56 Cosmic_Gene G G G G TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 3778 10 78649273 78649273 82 ALL relapse del BPTF proteinDel Q2348_S2354>P NM_182641 10-PAPDUV BPTF DELETE+ Del Somatic 4 0.872 SQHIGH 48 71 119 0 145 145 Cosmic_Gene AGACTCGAATACGTCCAT AGACTCGAATACGTCCAT AGACTCGAATACGTCCAT AGACTCGAATACGTCCAT TARGET-10-PAPDUV-04A-01D TARGET-10-PAPDUV-10A-01D 2186 17 65941867 65941884 194 ALL diagnosis ins NIPBL frameshift L1366fs NM_133433 10-PAPDUV NIPBL FRAMESHIFT Ins Somatic -9 0.205 SQHIGH 6 8 14 0 18 18 Cosmic_Gene A TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 25836 5 37007434 37007434 25 ALL diagnosis ins HHLA1 frameshift T320fs NM_001145095 10-PAPDUV HHLA1 FRAMESHIFT Ins Somatic -9 0.205 SQHIGH 6 45 51 0 55 55 A TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 10086 8 133090185 133090185 20 ALL diagnosis del KCNMA1 frameshift L1079fs NM_001014797 10-PAPDUV KCNMA1 FRAMESHIFT Del Somatic 1 0.588 SQHIGH 14 27 41 0 55 55 Cosmic_Gene G G G G TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 3778 10 78649273 78649273 58 ALL relapse ins AXDND1 frameshift K526fs NM_144696 10-PAPDWT AXDND1 FRAMESHIFT Ins Somatic -8 0.256 SQHIGH 6 10 16 0 13 13 Cosmic_Gene A TARGET-10-PAPDWT-04A-01D TARGET-10-PAPDWT-10A-01D 126859 1 179414116 179414116 18 ALL diagnosis ins AXDND1 frameshift K526fs NM_144696 10-PAPDWT AXDND1 FRAMESHIFT Ins Somatic -9 0.235 SQHIGH 6 4 10 0 13 13 Cosmic_Gene A TARGET-10-PAPDWT-09A-01D TARGET-10-PAPDWT-10A-01D 126859 1 179414116 179414116 27 ALL relapse del SNCA frameshift T75fs NM_000345 10-PAPEAB SNCA FRAMESHIFT Del Somatic PFAM:PF01387:Synuclein -6 0.281 SQHIGH 6 26 32 0 19 19 G G G G TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 6622 4 90743479 90743479 13 ALL relapse ins INPP5F frameshift T261fs NM_014937 10-PAPEAB INPP5F FRAMESHIFT Ins Somatic PFAM:PF02383:Syja_N -7 0.296 SQHIGH 11 38 49 1 35 36 Cosmic_Gene C TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 22876 10 121556338 121556338 21 ALL relapse del PPP4C frameshift K133_V137fs NM_002720 10-PAPEAB PPP4C FRAMESHIFT Del Somatic -1 0.424 SQHIGH 26 36 62 0 76 76 Cosmic_Gene AGTACGGCTCGGT AGTACGGCTCGGT AGTACGGCTCGGT AGTACGGCTCGGT TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 5531 16 30094809 30094821 106 ALL relapse ins PRMT1 splice_region L185_E6splice_region NM_001536 10-PAPEAB PRMT1|C19orf76 DONOR|TSS-UPSTREAM Ins Somatic -7 0.296 SQHIGH 9 13 22 0 29 29 Cosmic_Gene AGGCCCC TARGET-10-PAPEAB-04A-01D TARGET-10-PAPEAB-10A-01D 3276|199800 19 50187329 50187329 38 ALL relapse del C20orf62 splice_region E39_E2splice_region NM_001287807 10-PAPECF Del dbsnp.134:rs147265115,dbsnp.132:rs113854615,dbsnp.134:rs150986078,dbsnp.134:rs142852875 Somatic -7 0.266 SQHIGH 12 24 36 2 37 39 A A A A TARGET-10-PAPECF-04A-01D TARGET-10-PAPECF-10A-01D 20 43090930 43090930 27 ALL diagnosis del HMGXB3 splice_region G487_E8splice_region NM_014983 10-PAPEWB HMGXB3 ACCEPTOR Del Somatic -6 0.285 SQHIGH 5 49 56 0 42 46 Cosmic_Gene T T T T TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 22993 5 149406262 149406262 13 ALL diagnosis del ADAM15 frameshift Y119fs NM_207191 10-PAPFWH ADAM15|LOC100505666 FRAMESHIFT|INTRON,TSS-UPSTREAM Del Somatic PFAM:PF01562:Pep_M12B_propep -5 0.291 SQHIGH 4 22 26 0 38 38 Cosmic_Gene T T T T TARGET-10-PAPFWH-09A-01D TARGET-10-PAPFWH-10A-01D 8751|100505666 1 155026638 155026638 16 ALL diagnosis ins SLFN14 frameshift P279fs NM_001129820 10-PAPGFP SLFN14 FRAMESHIFT Ins Somatic PFAM:PF04326:AAA_4 -6 0.327 SQHIGH 5 33 38 0 35 35 Cosmic_Gene T TARGET-10-PAPGFP-09A-01D TARGET-10-PAPGFP-10A-01D 342618 17 33884246 33884246 15 ALL relapse ins PLEKHN1 splice_region Q110_E3splice_region NM_032129 10-PAPGYC PLEKHN1 INTRON Ins Somatic -2 0.541 SQHIGH 14 26 40 1 53 54 CG TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 84069 1 905811 905811 49 ALL relapse del PHLDB1 frameshift A487_E488fs NM_015157 10-PAPGYC PHLDB1 FRAMESHIFT Del Somatic 0 0.495 SQHIGH 28 16 44 2 43 45 AG AG AG AG TARGET-10-PAPGYC-04A-01D TARGET-10-PAPGYC-14A-01D 23187 11 118499000 118499001 90 ALL diagnosis ins TACC2 frameshift S1110fs NM_206862 10-PAPGYC TACC2 FRAMESHIFT,INTRON Ins Somatic -6 0.365 SQHIGH 6 54 63 0 56 57 Cosmic_Gene C TARGET-10-PAPGYC-09A-01D TARGET-10-PAPGYC-14A-01D 10579 10 123845343 123845343 18 ALL diagnosis del PHLDB1 frameshift A487_E488fs NM_015157 10-PAPGYC PHLDB1 FRAMESHIFT Del Somatic 0 0.500 SQHIGH 16 34 50 2 43 45 AG AG AG AG TARGET-10-PAPGYC-09A-01D TARGET-10-PAPGYC-14A-01D 23187 11 118499000 118499001 33 ALL diagnosis ins TOPAZ1 frameshift K629fs NM_001145030 10-PAPHEK TOPAZ1 FRAMESHIFT Ins Somatic -9 0.213 SQHIGH 7 14 21 1 36 37 Cosmic_Gene A TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 375337 3 44285882 44285882 26 ALL diagnosis del MUC22 frameshift M426fs NM_001198815 10-PAPHEK MUC22 FRAMESHIFT Del Somatic -6 0.288 SQHIGH 3 25 28 0 52 52 T T T T TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 100507679 6 30994485 30994485 14 ALL diagnosis del CCDC168 frameshift F3005fs NM_001146197 10-PAPHEK CCDC168 FRAMESHIFT Del Somatic -6 0.288 SQHIGH 7 47 63 0 57 69 A A A A TARGET-10-PAPHEK-03B-01D TARGET-10-PAPHEK-10A-01D 643677 13 103394032 103394032 23 ALL relapse del COL4A4 frameshift G1334fs NM_000092 10-PAPHEK COL4A4 FRAMESHIFT Del Somatic -9 0.224 SQHIGH 5 26 33 0 23 25 Cosmic_Gene C C C C TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 1286 2 227892698 227892698 13 ALL diagnosis ins IKZF3 proteinIns T190>TLT NM_012481 10-PAPHGD IKZF3 INTRON,INSERT Ins Somatic -3 0.432 SQHIGH 27 4 31 0 43 43 Cosmic_Gene CGTGAG TARGET-10-PAPHGD-09A-01D TARGET-10-PAPHGD-10A-01D 22806 17 37947690 37947690 156 ALL diagnosis del INTS1 frameshift L1265fs NM_001080453 10-PAPHMH INTS1 FRAMESHIFT Del Somatic 3 0.776 SQHIGH 22 17 39 3 44 47 G G G G TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 26173 7 1521035 1521035 65 ALL diagnosis ins N4BP2L2-IT2 EXON E6_exon NM_033111 10-PAPHMH CG030|N4BP2L2 UTR|INTRON Ins Somatic -5 0.410 SQHIGH 4 39 43 0 55 55 G TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 116828|10443 13 33083524 33083524 15 ALL diagnosis ins KIAA1143 frameshift V69fs NM_020696 10-PAPHRT KIAA1143 NONSENSE Ins Somatic 3 0.809 SQHIGH 5 22 27 0 46 46 G TARGET-10-PAPHRT-09A-01D TARGET-10-PAPHRT-14A-01D 57456 3 44795762 44795762 23 ALL diagnosis ins ACTB frameshift D4fs NM_001101 10-PAPHWH ACTB|LOC100505829 FRAMESHIFT|INTRON Ins Somatic PFAM:PF00022:Actin 4 0.846 SQHIGH 10 7 17 0 52 52 T TARGET-10-PAPHWH-09A-01D TARGET-10-PAPHWH-14A-01D 60|100505829 7 5569277 5569277 72 ALL diagnosis ins SETD2 frameshift Q2480fs NM_014159 10-PAPIGX SETD2 FRAMESHIFT Ins Somatic PFAM:PF08236:SRI -2 0.563 SQHIGH 13 21 34 0 36 36 Cosmic_Gene G TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 29072 3 47059222 47059222 47 ALL diagnosis ins LOC101928809 EXON E2_exon NM_002416 10-PAPIGX CXCL9 INTRON Ins Somatic 5 0.969 SQHIGH 20 25 45 0 45 45 Cosmic_Gene CGTACCA TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 4283 4 76926968 76926968 72 ALL diagnosis del KIAA0196 proteinDel V673_H678del NM_014846 10-PAPIGX KIAA0196 SPAN5 Del Somatic PFAM:PF10266:Strumpellin -1 0.506 SQHIGH 13 45 58 0 68 68 Cosmic_Gene ATGAGTAAGCTTGGCAACCTATAA ATGAGTAAGCTTGGCAACCTATAA ATGAGTAAGCTTGGCAACCTATAA ATGAGTAAGCTTGGCAACCTATAA TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 9897 8 126067896 126067919 47 ALL diagnosis ins P2RX3 splice G236_E8splice NM_002559 10-PAPIGX P2RX3 DISRUPT Ins Somatic -2 0.563 SQHIGH 16 20 36 0 35 35 G TARGET-10-PAPIGX-03A-01D TARGET-10-PAPIGX-10A-01D 5024 11 57118234 57118234 56 ALL relapse ins TSPYL1 frameshift R418fs NM_003309 10-PAPIJB DSE|TSPYL1 TSS-UPSTREAM|FRAMESHIFT Ins Somatic 0 0.706 SQHIGH 34 28 62 0 38 38 Cosmic_Gene GTGGG TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 29940|7259 6 116599741 116599741 92 ALL relapse del MAP3K15 frameshift D129fs NM_001001671 10-PAPIJB MAP3K15 FRAMESHIFT Del Somatic 4 0.870 SQHIGH 15 30 45 0 40 40 Cosmic_Gene TC TC TC TC TARGET-10-PAPIJB-04A-01D TARGET-10-PAPIJB-10A-01D 389840 X 19507061 19507062 47 ALL diagnosis ins TSPYL1 frameshift R418fs NM_003309 10-PAPIJB DSE|TSPYL1 TSS-UPSTREAM|FRAMESHIFT Ins Somatic -1 0.689 SQHIGH 10 46 56 0 38 38 Cosmic_Gene GTGGG TARGET-10-PAPIJB-09A-01D TARGET-10-PAPIJB-10A-01D 29940|7259 6 116599741 116599741 24 ALL diagnosis del RAB3GAP2 splice_region A238_E8splice_region NM_012414 10-PAPIJM RAB3GAP2 DONOR Del Somatic -4 0.323 SQHIGH 14 19 33 0 32 32 Cosmic_Gene TTGCCAAAATA TTGCCAAAATA TTGCCAAAATA TTGCCAAAATA TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 25782 1 220379234 220379244 49 ALL diagnosis ins UBE2J1 frameshift L210fs NM_016021 10-PAPIJM UBE2J1 FRAMESHIFT Ins Somatic 1 0.704 SQHIGH 15 52 67 0 47 47 GA TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 51465 6 90042853 90042853 38 ALL diagnosis ins TCF12 frameshift N474fs NM_207036 10-PAPIJM TCF12 FRAMESHIFT Ins Somatic 1 0.704 SQHIGH 9 20 29 1 51 52 Cosmic_Gene C TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 6938 15 57545620 57545620 35 ALL diagnosis ins CREBBP frameshift C1819fs NM_004380 10-PAPIJM CREBBP FRAMESHIFT Ins Somatic PFAM:PF02135:zf-TAZ -10 0.175 SQHIGH 7 14 21 0 15 15 Cosmic_Gene A TARGET-10-PAPIJM-09A-01D TARGET-10-PAPIJM-14A-01D 1387 16 3779592 3779592 19 ALL diagnosis ins DDX60L frameshift P1610fs NM_001012967 10-PAPIRZ DDX60L FRAMESHIFT Ins Somatic -8 0.233 SQHIGH 5 11 16 0 20 20 Cosmic_Gene C TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 91351 4 169292860 169292860 19 ALL diagnosis ins NSMCE1 splice_region G201_E7splice_region NM_145080 10-PAPIRZ NSMCE1 ACCEPTOR Ins Somatic 1 0.710 SQHIGH 11 45 56 1 61 62 AA TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 197370 16 27237177 27237177 29 ALL diagnosis ins SPOP frameshift S42fs NM_001007226 10-PAPIRZ SPOP FRAMESHIFT Ins Somatic -6 0.332 SQHIGH 22 30 52 0 48 48 Cosmic_Gene TACC TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 8405 17 47699382 47699382 74 ALL diagnosis ins SPOP frameshift F41fs NM_001007226 10-PAPIRZ SPOP FRAMESHIFT Ins Somatic -1 0.586 SQHIGH 31 30 61 0 48 48 Cosmic_Gene GTCCCTCGACG TARGET-10-PAPIRZ-09A-01D TARGET-10-PAPIRZ-14A-01D 8405 17 47699384 47699384 98 ALL diagnosis ins SH3BP5-AS1 EXON E8_exon NM_004844 10-PAPISG SH3BP5 INTRON Ins Somatic 3 0.937 SQHIGH 19 32 51 0 45 45 G TARGET-10-PAPISG-03A-01D TARGET-10-PAPISG-14A-01D 9467 3 15297869 15297869 61 ALL relapse ins SH3BP5-AS1 EXON E8_exon NM_004844 10-PAPISG SH3BP5 INTRON Ins Somatic -5 0.481 SQHIGH 12 27 39 0 45 45 G TARGET-10-PAPISG-04A-01D TARGET-10-PAPISG-14A-01D 9467 3 15297869 15297869 45 ALL relapse ins ADAMTS12 frameshift F488fs NM_030955 10-PAPJHB ADAMTS12 FRAMESHIFT Ins Somatic -2 0.533 SQHIGH 26 22 48 0 39 39 Cosmic_Gene AAGGTAGCCC TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 81792 5 33648942 33648942 86 ALL relapse ins CDCA2 frameshift R611fs NM_152562 10-PAPJHB CDCA2 FRAMESHIFT Ins Somatic 5 0.926 SQHIGH 19 24 43 0 41 41 CTGGCCCGGG TARGET-10-PAPJHB-04A-01D TARGET-10-PAPJHB-10A-01D 157313 8 25361050 25361050 66 ALL diagnosis del OSGEPL1 proteinDel I38del NM_022353 10-PAPJHB OSGEPL1 DELETE Del Somatic -4 0.320 SQHIGH 5 23 28 0 20 20 TAT TAT TAT TAT TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 64172 2 190626253 190626255 12 ALL diagnosis ins ADAMTS12 frameshift F488fs NM_030955 10-PAPJHB ADAMTS12 FRAMESHIFT Ins Somatic -3 0.489 SQHIGH 15 24 39 0 39 39 Cosmic_Gene AAGGTAGCCC TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 81792 5 33648942 33648942 52 ALL diagnosis ins CDCA2 frameshift R611fs NM_152562 10-PAPJHB CDCA2 FRAMESHIFT Ins Somatic -10 0.192 SQHIGH 10 32 42 0 41 41 CTGGCCCGGG TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 157313 8 25361050 25361050 32 ALL diagnosis del RUNDC1 frameshift S312fs NM_173079 10-PAPJHB RUNDC1 FRAMESHIFT Del Somatic -5 0.292 SQHIGH 5 20 25 0 21 21 C C C C TARGET-10-PAPJHB-09A-01D TARGET-10-PAPJHB-10A-01D 146923 17 41142413 41142413 14 ALL relapse ins COL1A2 frameshift Q23fs NM_000089 10-PAPJHR COL1A2 FRAMESHIFT Ins Somatic -3 0.463 SQHIGH 10 42 52 1 55 56 Cosmic_Gene A TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 1278 7 94024410 94024410 26 ALL relapse ins NF1 frameshift K584fs NM_000267 10-PAPJHR NF1 FRAMESHIFT Ins Somatic -4 0.417 SQHIGH 26 20 46 3 30 33 Cosmic_Gene C TARGET-10-PAPJHR-04A-01D TARGET-10-PAPJHR-10A-01D 4763 17 29550492 29550492 50 ALL diagnosis del DMRT3 frameshift D165fs NM_021240 10-PAPJHR DMRT3 FRAMESHIFT Del Somatic -3 0.331 SQHIGH 8 53 61 0 41 41 Cosmic_Gene A A A A TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 58524 9 990080 990080 19 ALL diagnosis ins BRSK2 frameshift F554fs NM_003957 10-PAPJHR BRSK2 FRAMESHIFT Ins Somatic -6 0.326 SQHIGH 9 28 37 1 47 48 CACC TARGET-10-PAPJHR-09A-01D TARGET-10-PAPJHR-10A-01D 9024 11 1475830 1475830 27 ALL relapse ins PSG3 splice_region A415_E6splice_region NM_021016 10-PAPJIB PSG3 ACCEPTOR Ins Somatic -8 0.311 SQHIGH 14 40 54 1 44 45 Cosmic_Gene A TARGET-10-PAPJIB-04A-01D TARGET-10-PAPJIB-14A-01D 5671 19 43228186 43228186 31 ALL diagnosis ins GATB proteinIns A450>VT NM_004564 10-PAPJIB GATB INSERT+ Ins Somatic PFAM:PF02637:GatB_Yqey -8 0.309 SQHIGH 7 19 26 0 18 18 TGA TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 5188 4 152601026 152601026 18 ALL diagnosis del CD97 proteinDel K791del NM_078481 10-PAPJIB CD97 DELETE Del Somatic 0 0.662 SQHIGH 17 16 33 0 36 36 Cosmic_Gene AAG AAG AAG AAG TARGET-10-PAPJIB-09A-01D TARGET-10-PAPJIB-14A-01D 976 19 14518036 14518038 67 ALL relapse ins HSP90B2P EXON E2_exon NM_144598 10-PAPJXI LRRC28 INTRON Ins Somatic -10 0.210 SQHIGH 6 14 20 1 37 38 T TARGET-10-PAPJXI-04A-01D TARGET-10-PAPJXI-10A-01D 123355 15 99800300 99800300 23 ALL diagnosis ins CEP290 frameshift L195fs NM_025114 10-PAPKNC CEP290 FRAMESHIFT Ins Somatic -10 0.167 SQHIGH 6 31 37 0 36 36 Cosmic_Gene A TARGET-10-PAPKNC-09A-01D TARGET-10-PAPKNC-14A-01D 80184 12 88524129 88524129 19 ALL relapse ins MME frameshift L118fs NM_000902 10-PAPLDL MME FRAMESHIFT Ins Somatic -8 0.244 SQHIGH 27 23 50 0 50 50 Cosmic_Gene GG TARGET-10-PAPLDL-04A-02D TARGET-10-PAPLDL-10A-01D 4311 3 154832939 154832939 102 ALL diagnosis ins MME frameshift L118fs NM_000902 10-PAPLDL MME FRAMESHIFT Ins Somatic -8 0.231 SQHIGH 29 29 58 0 50 50 Cosmic_Gene GG TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 4311 3 154832939 154832939 97 ALL diagnosis ins HSP90B2P EXON E2_exon NM_144598 10-PAPLDL LRRC28 INTRON Ins Somatic -6 0.325 SQHIGH 7 32 40 1 44 45 A TARGET-10-PAPLDL-09A-01D TARGET-10-PAPLDL-10A-01D 123355 15 99798907 99798907 18 ALL relapse ins ZNF684 frameshift E80fs NM_152373 10-PAPLDM ZNF684 FRAMESHIFT Ins Somatic -5 0.398 SQHIGH 3 12 15 0 33 33 C TARGET-10-PAPLDM-04A-01D TARGET-10-PAPLDM-10A-01D 127396 1 41012234 41012234 16 ALL diagnosis ins ORC1 splice_region R494_E9splice_region NM_004153 10-PAPLDM ORC1 DONOR Ins Somatic -8 0.271 SQHIGH 6 25 31 0 19 19 Cosmic_Gene A TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 4998 1 52851518 52851518 13 ALL diagnosis del COL6A1 frameshift R442fs NM_001848 10-PAPLDM COL6A1 FRAMESHIFT Del Somatic 4 0.877 SQHIGH 35 117 152 0 82 82 Cosmic_Gene G G G G TARGET-10-PAPLDM-09A-01D TARGET-10-PAPLDM-10A-01D 1291 21 47412714 47412714 72 ALL relapse del TAF13 frameshift M1fs NM_005645 10-PAPLTZ TAF13 MISSTART Del Somatic 4 0.897 SQHIGH 22 24 46 0 83 83 A A A A TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 6884 1 109618568 109618568 117 ALL relapse ins SEC23IP frameshift S10fs NM_007190 10-PAPLTZ SEC23IP FRAMESHIFT,UTR Ins Somatic -5 0.407 SQHIGH 4 22 26 0 33 33 Cosmic_Gene T TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 11196 10 121652322 121652322 15 ALL relapse ins KIAA0195 frameshift S581fs NM_014738 10-PAPLTZ KIAA0195 FRAMESHIFT Ins Somatic -2 0.547 SQHIGH 8 45 53 0 45 45 Cosmic_Gene A TARGET-10-PAPLTZ-04A-01D TARGET-10-PAPLTZ-10A-01D 9772 17 73488700 73488700 22 ALL diagnosis del SPINK2 frameshift E71_G72fs NM_021114 10-PAPLTZ SPINK2 FRAMESHIFT Del Somatic PFAM:PF00050:Kazal_1 -8 0.244 SQHIGH 5 33 38 0 51 51 CCTTC CCTTC CCTTC CCTTC TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 6691 4 57676345 57676349 19 ALL diagnosis ins FAT3 frameshift E609fs NM_001008781 10-PAPLTZ FAT3 FRAMESHIFT Ins Somatic -5 0.402 SQHIGH 8 40 48 2 55 57 Cosmic_Gene T TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 120114 11 92087103 92087103 16 ALL relapse del S100A8 frameshift K85_S86fs NM_002964 10-PAPMVB S100A8 FRAMESHIFT Del Somatic 2 0.645 SQHIGH 31 47 78 0 83 83 TT TT TT TT TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 6279 1 153362605 153362606 114 ALL relapse del DOT1L splice_region R42_E3splice_region NM_032482 10-PAPMVB DOT1L ACCEPTOR Del Somatic -10 0.211 SQHIGH 11 41 52 0 55 55 Cosmic_Gene TG TG TG TG TARGET-10-PAPMVB-04A-01D TARGET-10-PAPMVB-14A-01D 84444 19 2185844 2185845 37 ALL diagnosis del S100A8 frameshift K85_S86fs NM_002964 10-PAPMVB S100A8 FRAMESHIFT Del Somatic 4 0.917 SQHIGH 42 49 91 0 83 83 TT TT TT TT TARGET-10-PAPMVB-09A-01D TARGET-10-PAPMVB-14A-01D 6279 1 153362605 153362606 144 ALL diagnosis ins NPAS2 frameshift R809fs NM_002518 10-PAPNFY NPAS2 FRAMESHIFT Ins Somatic -9 0.205 SQHIGH 6 5 11 0 18 18 Cosmic_Gene CT TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 4862 2 101611996 101611996 30 ALL diagnosis ins DHX32 splice K364_E4splice NM_018180 10-PAPNFY DHX32 SPAN3 Ins Somatic -7 0.281 SQHIGH 11 36 47 1 49 50 Cosmic_Gene CTTTCTTACCTTT TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 55760 10 127542529 127542529 29 ALL diagnosis ins IGF2 frameshift K120fs NM_000612 10-PAPNFY INS-IGF2|IGF2 UTR|FRAMESHIFT Ins Somatic PFAM:PF08365:IGF2_C 1 0.682 SQHIGH 6 38 44 0 48 48 Cosmic_Gene G TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 723961|3481 11 2154401 2154401 20 ALL diagnosis ins HRH4 frameshift S220fs NM_021624 10-PAPNFY HRH4 UTR3,FRAMESHIFT Ins Somatic 0 0.614 SQHIGH 5 34 39 0 45 45 Cosmic_Gene G TARGET-10-PAPNFY-03A-01D TARGET-10-PAPNFY-14A-01D 59340 18 22057013 22057013 17 ALL relapse ins AKNAD1 frameshift T11fs NM_152763 10-PAPNFY AKNAD1|SRG7 FRAMESHIFT|TSS-UPSTREAM Ins Somatic 3 0.871 SQHIGH 24 30 54 1 56 57 Cosmic_Gene G TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 254268|642864 1 109395253 109395253 78 ALL relapse del AVIL proteinDel A455_S456>A NM_006576 10-PAPNFY AVIL DELETE+ Del Somatic PFAM:PF00626:Gelsolin -4 0.295 SQHIGH 7 52 59 0 59 59 Cosmic_Gene GAG GAG GAG GAG TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 10677 12 58201238 58201240 22 ALL diagnosis del PRMT9 splice R318_E6splice NM_138364 10-PAPPGN PRMT9 DISRUPT Del Somatic -3 0.394 SQHIGH 12 18 31 1 19 20 Cosmic_Gene A A A A TARGET-10-PAPPGN-03A-01D TARGET-10-PAPPGN-14A-01D 90826 4 148589688 148589688 23 ALL diagnosis ins RIC1 splice_region Q534_E14splice_region NM_020829 10-PAPPGN RIC1 INTRON Ins Somatic -9 0.222 SQHIGH 7 17 24 0 11 11 T TARGET-10-PAPPGN-03A-01D TARGET-10-PAPPGN-14A-01D 57589 9 5753653 5753653 13 ALL diagnosis del EPC1 frameshift L170_I171fs NM_025209 10-PAPPGN EPC1 FRAMESHIFT Del Somatic -4 0.363 SQHIGH 7 11 18 0 17 17 Cosmic_Gene TTAG TTAG TTAG TTAG TARGET-10-PAPPGN-03A-01D TARGET-10-PAPPGN-14A-01D 80314 10 32582071 32582074 23 ALL relapse del PRMT9 splice R318_E6splice NM_138364 10-PAPPGN PRMT9 DISRUPT Del Somatic -3 0.389 SQHIGH 14 20 35 1 19 20 Cosmic_Gene A A A A TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 90826 4 148589688 148589688 25 ALL relapse del EPC1 frameshift L170_I171fs NM_025209 10-PAPPGN EPC1 FRAMESHIFT Del Somatic -5 0.323 SQHIGH 6 9 15 0 17 17 Cosmic_Gene TTAG TTAG TTAG TTAG TARGET-10-PAPPGN-04A-01D TARGET-10-PAPPGN-14A-01D 80314 10 32582071 32582074 23 ALL relapse ins GDNF-AS1 frameshift V34fs NM_001278094 10-PAPRCS Ins Somatic -6 0.375 SQHIGH 8 56 64 0 61 61 C TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 5 37875560 37875560 24 ALL relapse del SBNO2 frameshift P57fs NM_014963 10-PAPRCS SBNO2 FRAMESHIFT Del Somatic -8 0.276 SQHIGH 7 31 38 0 21 21 G G G G TARGET-10-PAPRCS-04A-01D TARGET-10-PAPRCS-10A-01D 22904 19 1147417 1147417 14 ALL diagnosis del SBNO2 frameshift P57fs NM_014963 10-PAPRCS SBNO2 FRAMESHIFT Del Somatic -2 0.380 SQHIGH 25 39 64 0 21 21 G G G G TARGET-10-PAPRCS-09A-01D TARGET-10-PAPRCS-10A-01D 22904 19 1147417 1147417 37 ALL relapse ins PLCG1 frameshift V538fs NM_002660 10-PAPSPG PLCG1 NONSENSE Ins Somatic -10 0.184 SQHIGH 4 34 38 0 45 45 Cosmic_Gene T TARGET-10-PAPSPG-04A-01D TARGET-10-PAPSPG-10A-01D 5335 20 39794281 39794281 14 ALL diagnosis ins MIR3194 EXON E6_exon NM_012340 10-PAPSPG NFATC2|MIR3194 INTRON|UTR Ins Somatic -5 0.352 SQHIGH 6 29 37 0 27 27 Cosmic_Gene TGGC TARGET-10-PAPSPG-09A-01D TARGET-10-PAPSPG-10A-01D 4773|100422889 20 50069496 50069496 hsa-miR-3194:MIMAT0015078 16 ALL relapse ins GIGYF2 frameshift R791fs NM_001103147 10-PAPSPN GIGYF2 FRAMESHIFT Ins Somatic -3 0.447 SQHIGH 17 22 39 0 36 36 Cosmic_Gene GTTC TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 26058 2 233681682 233681682 58 ALL relapse ins PAX5 frameshift V49fs NM_016734 10-PAPSPN PAX5 FRAMESHIFT Ins Somatic 2 0.773 SQHIGH 42 43 85 0 73 73 Cosmic_Gene TGATCAT TARGET-10-PAPSPN-04A-01D TARGET-10-PAPSPN-14A-01D 5079 9 37020699 37020699 141 ALL diagnosis ins PAX5 frameshift I99fs NM_016734 10-PAPSPN PAX5 FRAMESHIFT Ins Somatic -8 0.218 SQHIGH 19 18 37 2 31 33 Cosmic_Gene T TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 5079 9 37015108 37015108 46 ALL diagnosis del MRPS34 frameshift R16fs NM_023936 10-PAPSPN MRPS34|NME3|EME2 FRAMESHIFT|TSS-UPSTREAM|TSS-UPSTREAM Del Somatic -3 0.315 SQHIGH 8 6 14 2 20 22 Cosmic_Gene G G G G TARGET-10-PAPSPN-09A-01D TARGET-10-PAPSPN-14A-01D 65993|4832|197342 16 1823075 1823075 25 ALL diagnosis ins ECE2 proteinIns K360>KG NM_014693 10-PAPTHJ ECE2 INSERT Ins Somatic 0 0.661 SQHIGH 19 29 48 0 65 65 Cosmic_Gene GGG TARGET-10-PAPTHJ-03A-01D TARGET-10-PAPTHJ-10A-01D 9718 3 183996076 183996076 82 ALL diagnosis ins FAM114A1 frameshift T536fs NM_138389 10-PAPTLM FAM114A1 FRAMESHIFT,UTR Ins Somatic -9 0.197 SQHIGH 6 27 33 0 21 21 Cosmic_Gene A TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 92689 4 38945093 38945093 14 ALL diagnosis del WIF1 frameshift D153fs NM_007191 10-PAPTLM WIF1 FRAMESHIFT Del Somatic PFAM:PF02019:WIF 0 0.525 SQHIGH 25 24 49 1 51 52 Cosmic_Gene C C C C TARGET-10-PAPTLM-09A-01D TARGET-10-PAPTLM-10A-01D 11197 12 65462625 65462625 84 ALL relapse ins COL11A1 frameshift K109fs NM_001854 10-PAPZNK COL11A1 FRAMESHIFT Ins Somatic PFAM:PF00354:Pentaxin -7 0.432 SQHIGH 16 16 32 1 21 22 Cosmic_Gene T TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 1301 1 103544374 103544374 35 ALL relapse ins WT1 frameshift L256fs NM_000378 10-PAPZNK WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -7 0.432 SQHIGH 11 13 24 0 21 21 Cosmic_Gene A TARGET-10-PAPZNK-04A-01D TARGET-10-PAPZNK-10A-01D 7490 11 32450044 32450044 36 ALL diagnosis ins COL11A1 frameshift K109fs NM_001854 10-PAPZNK COL11A1 FRAMESHIFT Ins Somatic PFAM:PF00354:Pentaxin -7 0.443 SQHIGH 13 17 30 1 21 22 Cosmic_Gene T TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 1301 1 103544374 103544374 28 ALL diagnosis del TRMT44 frameshift K328_F329fs NM_152544 10-PAPZST TRMT44 FRAMESHIFT Del Somatic PFAM:PF07757:AdoMet_MTase -6 0.298 SQHIGH 4 31 35 0 41 41 Cosmic_Gene GTTC GTTC GTTC GTTC TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 152992 4 8453716 8453719 14 ALL diagnosis del ARAP1 frameshift D35fs NM_015242 10-PAPZST ARAP1 FRAMESHIFT Del Somatic -8 0.272 SQHIGH 3 20 23 0 40 40 Cosmic_Gene C C C C TARGET-10-PAPZST-09A-01D TARGET-10-PAPZST-14A-01D 116985 11 72423523 72423523 14 ALL relapse ins PDZD2 frameshift R101fs NM_178140 10-PARACA PDZD2 FRAMESHIFT Ins Somatic -4 0.404 SQHIGH 33 47 80 2 60 62 Cosmic_Gene G TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D 23037 5 31799656 31799656 75 ALL relapse del SPI1 frameshift A67fs NM_001080547 10-PARACA SPI1 FRAMESHIFT Del Somatic 2 0.717 SQHIGH 28 38 66 1 77 78 Cosmic_Gene G G G G TARGET-10-PARACA-04A-01D TARGET-10-PARACA-14A-01D 6688 11 47381536 47381536 99 ALL diagnosis del SPI1 frameshift A67fs NM_001080547 10-PARACA SPI1 FRAMESHIFT Del Somatic 1 0.619 SQHIGH 29 42 71 1 77 78 Cosmic_Gene G G G G TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D 6688 11 47381536 47381536 97 ALL diagnosis del PLEKHG3 frameshift V966fs NM_015549 10-PARACA PLEKHG3 FRAMESHIFT Del Somatic -1 0.450 SQHIGH 7 28 35 1 42 43 Cosmic_Gene G G G G TARGET-10-PARACA-09A-01D TARGET-10-PARACA-14A-01D 26030 14 65209825 65209825 19 ALL relapse del GSDMC frameshift E310_F312fs NM_031415 10-PARAKF GSDMC FRAMESHIFT Del Somatic PFAM:PF04598:Gasdermin 4 0.932 SQHIGH 34 58 92 0 101 101 Cosmic_Gene AGGGTTC AGGGTTC AGGGTTC AGGGTTC TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 56169 8 130763797 130763803 126 ALL relapse del LRP6 frameshift P707fs NM_002336 10-PARAKF LRP6 FRAMESHIFT Del Somatic PFAM:PF00058:Ldl_recept_b -3 0.314 SQHIGH 5 32 37 0 38 38 Cosmic_Gene G G G G TARGET-10-PARAKF-04A-01D TARGET-10-PARAKF-10A-01D 4040 12 12315286 12315286 16 ALL diagnosis ins STRN frameshift V623fs NM_003162 10-PARAKF STRN FRAMESHIFT Ins Somatic -5 0.356 SQHIGH 3 22 25 0 43 43 Cosmic_Gene C TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 6801 2 37082463 37082463 13 ALL diagnosis del TMEM151B proteinDel L395_A396>L NM_001137560 10-PARAKF TMEM151B DELETE Del Somatic -6 0.261 SQHIGH 5 17 22 0 31 31 GGC GGC GGC GGC TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 441151 6 44243748 44243750 20 ALL diagnosis del GSDMC frameshift E310_F312fs NM_031415 10-PARAKF GSDMC FRAMESHIFT Del Somatic PFAM:PF04598:Gasdermin 2 0.656 SQHIGH 25 54 79 0 101 101 Cosmic_Gene AGGGTTC AGGGTTC AGGGTTC AGGGTTC TARGET-10-PARAKF-09A-01D TARGET-10-PARAKF-10A-01D 56169 8 130763797 130763803 100 ALL diagnosis del UEVLD proteinDel E362_V363>V NM_001040697 10-PARARJ UEVLD DELETE Del Somatic 4 0.898 SQHIGH 15 18 33 0 46 46 CTT CTT CTT CTT TARGET-10-PARARJ-09A-01D TARGET-10-PARARJ-14A-01D 55293 11 18557990 18557992 67 ALL relapse del VCP frameshift N616fs NM_007126 10-PARBRK VCP FRAMESHIFT Del Somatic -8 0.279 SQHIGH 17 33 50 2 62 64 Cosmic_Gene T T T T TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 7415 9 35059647 35059647 50 ALL relapse del WDR90 frameshift A1499fs NM_145294 10-PARBRK RHOT2|WDR90 TSS-UPSTREAM|FRAMESHIFT Del Somatic PFAM:PF00400:WD40 -8 0.279 SQHIGH 6 12 18 0 23 23 Cosmic_Gene G G G G TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 89941|197335 16 716010 716010 24 ALL relapse del USP36 proteinDel S50_Y51>Y NM_025090 10-PARBRK USP36 DELETE Del Somatic 3 0.878 SQHIGH 26 71 97 0 94 94 Cosmic_Gene AGG AGG AGG AGG TARGET-10-PARBRK-04A-01D TARGET-10-PARBRK-10A-01D 57602 17 76832295 76832297 85 ALL diagnosis ins EFCC1 frameshift A589fs NM_024768 10-PARBRK EFCC1 FRAMESHIFT Ins Somatic -8 0.291 SQHIGH 8 28 36 0 24 24 T TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 79825 3 128758660 128758660 19 ALL diagnosis del CLEC16A splice D554_E14splice NM_015226 10-PARBRK CLEC16A ACCEPTOR Del Somatic -7 0.273 SQHIGH 4 34 38 1 84 85 Cosmic_Gene C C C C TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 23274 16 11136108 11136108 15 ALL diagnosis ins TCF4 proteinIns I21>IFI NM_001243226 10-PARBRK Ins Somatic -7 0.361 SQHIGH 5 51 56 0 55 55 GATGAA TARGET-10-PARBRK-09A-01D TARGET-10-PARBRK-10A-01D 18 53303065 53303065 15 ALL relapse ins NUP210L frameshift P777fs NM_207308 10-PARBVI NUP210L FRAMESHIFT Ins Somatic -4 0.458 SQHIGH 21 18 39 0 28 28 Cosmic_Gene GTTCCCCC TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 91181 1 154061926 154061926 63 ALL relapse ins RHBDF2 splice_region I186_E6splice_region NM_024599 10-PARBVI RHBDF2 ACCEPTOR Ins Somatic -7 0.338 SQHIGH 13 30 43 3 39 42 G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 79651 17 74475101 74475101 22 ALL relapse del USP9X frameshift D2261fs NM_001039590 10-PARBVI USP9X FRAMESHIFT Del Somatic 6 1.000 SQHIGH 21 15 36 0 43 43 Cosmic_Gene T T T T TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 8239 X 41084026 41084026 91 ALL diagnosis ins NUP210L frameshift P777fs NM_207308 10-PARBVI NUP210L FRAMESHIFT Ins Somatic -4 0.434 SQHIGH 23 17 40 0 28 28 Cosmic_Gene GTTCCCCC TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 91181 1 154061926 154061926 70 ALL diagnosis ins SLC4A3 frameshift A150fs NM_005070 10-PARBVI SLC4A3 FRAMESHIFT Ins Somatic -8 0.257 SQHIGH 6 32 38 1 55 56 Cosmic_Gene A TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 6508 2 220494096 220494096 18 ALL diagnosis ins FAM69C frameshift P143fs NM_001044369 10-PARBVI LOC100505838|FAM69C INTRON|FRAMESHIFT Ins Somatic -1 0.590 SQHIGH 26 43 69 0 70 70 GGACAGGGGA TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 100505838|125704 18 72114288 72114288 92 ALL diagnosis del USP9X frameshift D2261fs NM_001039590 10-PARBVI USP9X FRAMESHIFT Del Somatic 5 0.986 SQHIGH 14 20 34 0 43 43 Cosmic_Gene T T T T TARGET-10-PARBVI-09A-01D TARGET-10-PARBVI-10A-01D 8239 X 41084026 41084026 58 ALL diagnosis ins TMEM245 frameshift L659fs NM_032012 10-PARCHB C9orf5|MIR32 NONSENSE|TSS-UPSTREAM Ins Somatic -8 0.230 SQHIGH 5 36 47 0 40 45 Cosmic_Gene AG TARGET-10-PARCHB-03A-01D TARGET-10-PARCHB-10A-01D 23731|407036 9 111812850 111812850 15 ALL relapse ins NT5C3B frameshift N111fs NM_052935 10-PARDWE NT5C3L FRAMESHIFT,UTR Ins Somatic PFAM:PF05822:UMPH-1 -3 0.447 SQHIGH 5 38 43 0 43 43 C TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 115024 17 39987124 39987124 16 ALL diagnosis ins RITA1 frameshift G9fs NM_001286215 10-PARELH C12orf52|DDX54 UTR5|TSS-UPSTREAM Ins Somatic -8 0.214 SQHIGH 8 29 37 0 20 20 Cosmic_Gene A TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 84934|79039 12 113624504 113624504 16 ALL diagnosis ins RITA1 frameshift L10fs NM_001286215 10-PARELH C12orf52|DDX54 UTR5|TSS-UPSTREAM Ins Somatic -8 0.214 SQHIGH 8 25 33 0 15 15 Cosmic_Gene C TARGET-10-PARELH-03A-01D TARGET-10-PARELH-10A-01D 84934|79039 12 113624508 113624508 14 ALL relapse ins SBF2 frameshift T973fs NM_030962 10-PARFLV SBF2 FRAMESHIFT Ins Somatic -8 0.211 SQHIGH 11 41 52 1 43 44 Cosmic_Gene C TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 81846 11 9868519 9868519 23 ALL relapse del GRB7 frameshift A399_A401fs NM_005310 10-PARFLV GRB7 FRAMESHIFT Del Somatic PFAM:PF08947:BPS -5 0.271 SQHIGH 9 33 42 1 27 28 Cosmic_Gene CCAGG CCAGG CCAGG CCAGG TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 2886 17 37901779 37901783 15 ALL relapse del ATRX frameshift T1529fs NM_000489 10-PARFLV ATRX FRAMESHIFT Del Somatic 6 0.998 SQHIGH 32 6 38 0 46 46 Cosmic_Gene T T TARGET-10-PARFLV-04A-01D TARGET-10-PARFLV-14A-01D 546 X 76891520 76891520 168 ALL diagnosis ins APBB1 frameshift H582fs NM_001164 10-PARFLV APBB1 FRAMESHIFT Ins Somatic PFAM:PF00638:Ran_BP1 0 0.588 SQHIGH 7 33 40 3 67 70 Cosmic_Gene C TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 322 11 6417372 6417372 16 ALL diagnosis ins LOC101928008 EXON E16_exon NM_030962 10-PARFLV SBF2 INTRON Ins Somatic -7 0.239 SQHIGH 7 35 42 0 26 26 Cosmic_Gene AGC TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 81846 11 9950507 9950507 16 ALL diagnosis del ATRX frameshift T1529fs NM_000489 10-PARFLV ATRX FRAMESHIFT Del Somatic 6 0.998 SQHIGH 28 4 32 0 46 46 Cosmic_Gene T T TARGET-10-PARFLV-09A-01D TARGET-10-PARFLV-14A-01D 546 X 76891520 76891520 165 ALL relapse del ZNF687 proteinDel E96_A97>D NM_020832 10-PARFTR ZNF687|LOC100507670 DELETE+|TSS-UPSTREAM Del Somatic -10 0.210 SQHIGH 5 56 61 0 44 44 Cosmic_Gene GGC GGC GGC GGC TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 57592|100507670 1 151259055 151259057 12 ALL relapse ins NEK10 splice_region N597_E21splice_region NM_199347 10-PARFTR NEK10 DONOR Ins Somatic -8 0.244 SQHIGH 7 24 31 0 25 25 Cosmic_Gene T TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 152110 3 27329184 27329184 19 ALL relapse ins TRPC6 frameshift V409fs NM_004621 10-PARFTR TRPC6 FRAMESHIFT Ins Somatic -7 0.290 SQHIGH 6 26 32 0 24 24 Cosmic_Gene G TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 7225 11 101359735 101359735 16 ALL relapse ins ABI3 proteinIns V29>VGHE NM_016428 10-PARFTR GNGT2|ABI3 TSS-UPSTREAM|INSERT Ins Somatic -7 0.290 SQHIGH 32 17 49 0 46 46 GGGCACGAG TARGET-10-PARFTR-04A-01D TARGET-10-PARFTR-10A-01D 2793|51225 17 47288173 47288173 125 ALL diagnosis ins ZDHHC22 frameshift W242fs NM_174976 10-PARFTR ZDHHC22 FRAMESHIFT Ins Somatic -2 0.492 SQHIGH 11 35 46 1 39 40 G TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 283576 14 77600093 77600093 24 ALL diagnosis ins ABI3 proteinIns V29>VGHE NM_016428 10-PARFTR GNGT2|ABI3 TSS-UPSTREAM|INSERT Ins Somatic -7 0.285 SQHIGH 21 30 51 0 46 46 GGGCACGAG TARGET-10-PARFTR-09A-01D TARGET-10-PARFTR-10A-01D 2793|51225 17 47288173 47288173 69 ALL diagnosis del KIAA2018 proteinDel S360_K361>R NM_001009899 10-PARGFV KIAA2018 DELETE+ Del Somatic 1 0.588 SQHIGH 13 37 50 0 36 36 Cosmic_Gene TTA TTA TTA TTA TARGET-10-PARGFV-03A-01D TARGET-10-PARGFV-14A-01D 205717 3 113379447 113379449 34 ALL relapse del KIAA2018 proteinDel S360_K361>R NM_001009899 10-PARGFV KIAA2018 DELETE+ Del Somatic 2 0.671 SQHIGH 8 18 26 0 36 36 Cosmic_Gene TTA TTA TTA TTA TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 205717 3 113379447 113379449 33 ALL relapse del PDZD7 proteinDel P596_L598>L NM_001195263 10-PARGFV PDZD7 DELETE Del Somatic 0 0.500 SQHIGH 12 19 31 0 44 44 Cosmic_Gene GCAGGG GCAGGG GCAGGG GCAGGG TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 79955 10 102771973 102771978 53 ALL relapse del PDZD7 frameshift G588_I590fs NM_001195263 10-PARGFV PDZD7 FRAMESHIFT Del Somatic -1 0.423 SQHIGH 14 31 45 0 57 57 Cosmic_Gene TATGCCT TATGCCT TATGCCT TATGCCT TARGET-10-PARGFV-04A-01D TARGET-10-PARGFV-14A-01D 79955 10 102771995 102772001 56 ALL relapse ins BCORL1 frameshift R1671fs NM_021946 10-PARGHW BCORL1 FRAMESHIFT Ins Somatic 3 0.908 SQHIGH 17 3 20 0 19 19 Cosmic_Gene CC TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 63035 X 129189988 129189988 77 ALL diagnosis ins SETD2 frameshift R1850fs NM_014159 10-PARGHW SETD2 FRAMESHIFT Ins Somatic -3 0.605 SQHIGH 14 25 39 0 42 42 Cosmic_Gene CC TARGET-10-PARGHW-09A-01D TARGET-10-PARGHW-14A-01D 29072 3 47125720 47125720 51 ALL diagnosis ins OBSL1 frameshift T1073fs NM_015311 10-PARGML OBSL1 FRAMESHIFT Ins Somatic PFAM:PF00047:ig -7 0.322 SQHIGH 4 15 19 0 37 37 T TARGET-10-PARGML-03A-01D TARGET-10-PARGML-10A-01D 23363 2 220423954 220423954 20 ALL diagnosis del SH2B3 proteinDel Y401del NM_005475 10-PARGVZ SH2B3 DELETE Del Somatic 3 0.876 SQHIGH 15 31 46 0 78 78 Cosmic_Gene TAC TAC TAC TAC TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 10019 12 111885313 111885315 72 ALL diagnosis del CREBBP proteinDel S1680_L1681>L NM_004380 10-PARGVZ CREBBP DELETE Del Somatic -1 0.515 SQHIGH 19 27 46 1 64 65 COSMIC:mut:88746 Cosmic_Gene AGG AGG AGG AGG TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 1387 16 3781324 3781326 73 ALL diagnosis ins LTN1 proteinIns E1061>EGP NM_015565 10-PARGVZ LTN1 INSERT+ Ins Somatic 3 0.929 SQHIGH 9 23 32 0 40 40 Cosmic_Gene GGGCCC TARGET-10-PARGVZ-03A-01D TARGET-10-PARGVZ-14A-01D 26046 21 30329118 30329118 35 ALL relapse del SH2B3 proteinDel Y401del NM_005475 10-PARGVZ SH2B3 DELETE Del Somatic 3 0.885 SQHIGH 23 28 51 0 78 78 Cosmic_Gene TAC TAC TAC TAC TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 10019 12 111885313 111885315 109 ALL relapse del CREBBP proteinDel S1680_L1681>L NM_004380 10-PARGVZ CREBBP DELETE Del Somatic -1 0.550 SQHIGH 23 1 24 1 64 65 COSMIC:mut:88746 Cosmic_Gene AGG AGG AGG TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 1387 16 3781324 3781326 183 ALL relapse ins LTN1 proteinIns E1061>EGP NM_015565 10-PARGVZ LTN1 INSERT+ Ins Somatic 0 0.823 SQHIGH 7 33 40 0 40 40 Cosmic_Gene GGGCCC TARGET-10-PARGVZ-04A-01D TARGET-10-PARGVZ-14A-01D 26046 21 30329118 30329118 22 ALL relapse ins HAX1 frameshift S153fs NM_006118 10-PARJSR HAX1 FRAMESHIFT Ins Somatic -7 0.309 SQHIGH 16 30 46 3 38 41 C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10456 1 154246390 154246390 28 ALL relapse del RGS7 splice_region A129_E7splice_region NM_002924 10-PARJSR RGS7 ACCEPTOR Del Somatic -8 0.270 SQHIGH 7 12 19 0 28 28 Cosmic_Gene A A A A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 6000 1 241033423 241033423 31 ALL relapse ins MAPRE3 frameshift A179fs NM_012326 10-PARJSR MAPRE3 FRAMESHIFT Ins Somatic -7 0.309 SQHIGH 14 31 45 0 54 54 Cosmic_Gene C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 22924 2 27248516 27248516 54 ALL relapse ins MSH6 frameshift T1085fs NM_000179 10-PARJSR MSH6 FRAMESHIFT Ins dbsnp.130:rs63749866,dbsnp.130:rs63750431 Somatic -10 0.192 SQHIGH 7 23 30 0 20 20 COSMIC:mut:13395,COSMIC:mut:13394,COSMIC:mut:13402 Cosmic_Gene C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 2956 2 48030639 48030639 17 ALL relapse ins SEMA4F frameshift T608fs NM_004263 10-PARJSR SEMA4F FRAMESHIFT Ins Somatic -9 0.218 SQHIGH 11 22 33 0 55 55 Cosmic_Gene C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10505 2 74906845 74906845 52 ALL relapse ins UBXN4 frameshift E461fs NM_014607 10-PARJSR UBXN4 FRAMESHIFT Ins Somatic -7 0.309 SQHIGH 13 21 34 0 41 41 Cosmic_Gene A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 23190 2 136537948 136537948 51 ALL relapse ins SETD2 frameshift K281fs NM_014159 10-PARJSR SETD2 FRAMESHIFT Ins Somatic -8 0.259 SQHIGH 13 28 41 3 28 31 Cosmic_Gene T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 29072 3 47165282 47165282 16 ALL relapse ins PPM1M splice_region L265_E5splice_region NM_144641 10-PARJSR PPM1M INTRON Ins Somatic -7 0.309 SQHIGH 12 12 24 0 42 42 T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 132160 3 52282263 52282263 63 ALL relapse ins PLCXD2-AS1 EXON E1_exon NM_153268 10-PARJSR PLCXD2 INTRON Ins Somatic -4 0.427 SQHIGH 13 26 39 2 51 53 Cosmic_Gene T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 257068 3 111395234 111395234 37 ALL relapse ins TRAF3IP2-AS1 EXON E3_exon NM_147686 10-PARJSR TRAF3IP2|TRAF3IP2-AS1 INTRON,TSS-UPSTREAM|INTRON,UTR Ins Somatic -8 0.259 SQHIGH 9 12 21 2 20 22 Cosmic_Gene T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10758|643749 6 111898615 111898615 19 ALL relapse ins CHPF2 frameshift D645fs NM_019015 10-PARJSR MIR671|CHPF2 TSS-UPSTREAM|FRAMESHIFT Ins Somatic PFAM:PF01644:Chitin_synth_1 -10 0.192 SQHIGH 9 14 23 2 23 25 Cosmic_Gene C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 768213|54480 7 150935382 150935382 19 ALL relapse ins NUP214 frameshift A1376fs NM_005085 10-PARJSR NUP214 FRAMESHIFT Ins Somatic -7 0.309 SQHIGH 9 16 25 1 51 52 Cosmic_Gene C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 8021 9 134073007 134073007 40 ALL relapse ins PRDX3 splice S57_E3splice NM_006793 10-PARJSR PRDX3 ACCEPTOR,INTRON Ins Somatic -6 0.347 SQHIGH 8 19 27 1 22 23 A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10935 10 120934107 120934107 17 ALL relapse ins KCNQ1OT1 EXON E11_exon NM_000218 10-PARJSR KCNQ1|KCNQ1OT1 INTRON|UTR Ins Somatic -4 0.427 SQHIGH 11 32 43 0 39 39 Cosmic_Gene T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 3784|10984 11 2701483 2701483 34 ALL relapse ins MINOS1P1 EXON E6_exon NM_033111 10-PARJSR N4BP2L2 INTRON Ins Somatic -8 0.259 SQHIGH 13 9 22 1 23 24 T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 10443 13 33072099 33072099 43 ALL relapse del DIS3 frameshift K627fs NM_014953 10-PARJSR DIS3 FRAMESHIFT Del Somatic PFAM:PF00773:RNB -4 0.344 SQHIGH 12 15 27 1 20 21 Cosmic_Gene T T T T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 22894 13 73342925 73342925 27 ALL relapse ins LCMT1-AS2 EXON E4_exon NM_016309 10-PARJSR LOC100506655|LCMT1 UTR|INTRON Ins Somatic -2 0.531 SQHIGH 15 23 38 2 57 59 A TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 100506655|51451 16 25158536 25158536 51 ALL relapse ins ZNF469 frameshift P2992fs NM_001127464 10-PARJSR ZNF469 FRAMESHIFT Ins Somatic -7 0.309 SQHIGH 11 22 33 2 34 36 C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 84627 16 88502935 88502935 25 ALL relapse ins MYO18A frameshift P209fs NM_078471 10-PARJSR MYO18A FRAMESHIFT Ins Somatic -7 0.309 SQHIGH 9 36 45 1 30 31 G TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 399687 17 27493331 27493331 15 ALL relapse ins GLTSCR1 frameshift P1336fs NM_015711 10-PARJSR GLTSCR1 FRAMESHIFT Ins Somatic -9 0.218 SQHIGH 9 6 15 1 13 14 Cosmic_Gene C TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 29998 19 48204994 48204994 24 ALL relapse ins RAP2C-AS1 EXON E1_exon NM_018388 10-PARJSR MBNL3|LOC100652838 INTRON|UTR Ins Somatic 2 0.795 SQHIGH 7 4 11 1 10 11 T TARGET-10-PARJSR-04A-01D TARGET-10-PARJSR-14A-01D 55796|100652838 X 131564154 131564154 19 ALL diagnosis ins HAX1 frameshift S153fs NM_006118 10-PARJSR HAX1 FRAMESHIFT Ins Somatic -6 0.342 SQHIGH 9 13 22 3 38 41 C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 10456 1 154246390 154246390 27 ALL diagnosis ins PXDN frameshift P864fs NM_012293 10-PARJSR PXDN FRAMESHIFT Ins Somatic -2 0.508 SQHIGH 8 17 25 0 39 39 Cosmic_Gene G TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 7837 2 1652959 1652959 36 ALL diagnosis ins MAPRE3 frameshift A179fs NM_012326 10-PARJSR MAPRE3 FRAMESHIFT Ins Somatic -6 0.342 SQHIGH 10 21 31 0 54 54 Cosmic_Gene C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 22924 2 27248516 27248516 48 ALL diagnosis ins KANSL1L frameshift K937fs NM_152519 10-PARJSR KANSL1L FRAMESHIFT Ins Somatic -2 0.508 SQHIGH 9 15 24 1 55 56 Cosmic_Gene T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 151050 2 210887826 210887826 43 ALL diagnosis ins RBM44 frameshift V144fs NM_001080504 10-PARJSR RBM44 NONSENSE Ins Somatic -7 0.293 SQHIGH 5 5 10 3 30 33 Cosmic_Gene T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 375316 2 238725989 238725989 20 ALL diagnosis ins SETD2 frameshift K281fs NM_014159 10-PARJSR SETD2 FRAMESHIFT Ins Somatic -7 0.293 SQHIGH 10 12 22 3 28 31 Cosmic_Gene T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 29072 3 47165282 47165282 24 ALL diagnosis ins DNAH1 frameshift L2386fs NM_015512 10-PARJSR DNAH1 FRAMESHIFT Ins Somatic PFAM:PF00485:PRK 3 0.829 SQHIGH 18 34 52 1 69 70 Cosmic_Gene T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 25981 3 52409425 52409425 64 ALL diagnosis ins TRAF3IP2-AS1 EXON E3_exon NM_147686 10-PARJSR TRAF3IP2|TRAF3IP2-AS1 INTRON,TSS-UPSTREAM|INTRON,UTR Ins Somatic -7 0.293 SQHIGH 15 9 24 2 20 22 Cosmic_Gene T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 10758|643749 6 111898615 111898615 37 ALL diagnosis del IKBKAP splice_region S548_E15splice_region NM_003640 10-PARJSR IKBKAP ACCEPTOR Del Somatic -1 0.438 SQHIGH 16 14 30 0 34 34 Cosmic_Gene A A A A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 8518 9 111665955 111665955 65 ALL diagnosis ins SLC22A20 frameshift V46fs NM_001004326 10-PARJSR SLC22A20 FRAMESHIFT,UTR Ins Somatic -10 0.217 SQHIGH 5 18 25 1 46 50 Cosmic_Gene C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 440044 11 64981480 64981480 19 ALL diagnosis ins CTCF frameshift K202fs NM_006565 10-PARJSR CTCF FRAMESHIFT,INTRON Ins Somatic -6 0.342 SQHIGH 13 20 33 3 38 41 Cosmic_Gene A TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 10664 16 67645338 67645338 30 ALL diagnosis ins MYH2 frameshift N891fs NM_017534 10-PARJSR MYH2 NONSENSE Ins Somatic -6 0.342 SQHIGH 15 23 38 1 42 43 Cosmic_Gene T TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 4620 17 10434974 10434974 47 ALL diagnosis del FLT3LG frameshift P115fs NM_001459 10-PARJSR FLT3LG FRAMESHIFT Del Somatic PFAM:PF02947:Flt3_lig -9 0.277 SQHIGH 6 10 16 0 18 18 C C C C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 2323 19 49982166 49982166 22 ALL diagnosis ins CECR5 frameshift G5fs NM_033070 10-PARJSR CECR5|CECR5-AS1 FRAMESHIFT,INTRON|TSS-UPSTREAM Ins Somatic -6 0.342 SQHIGH 9 12 21 2 28 30 C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 27440|100130717 22 17640127 17640127 25 ALL relapse ins KMT2D nonsense G2219>GVR** NM_003482 10-PARJZZ KMT2D NONSENSE Ins Somatic -7 0.330 SQHIGH 15 19 34 0 28 28 Cosmic_Gene TACTAACGTACT TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 8085 12 49434896 49434896 47 ALL relapse ins ZNF423 frameshift F641fs NM_015069 10-PARJZZ ZNF423 FRAMESHIFT Ins Somatic -7 0.330 SQHIGH 4 17 21 0 38 38 Cosmic_Gene C TARGET-10-PARJZZ-04A-01D TARGET-10-PARJZZ-10A-01D 23090 16 49671140 49671140 19 ALL diagnosis ins LOXL2 frameshift V634fs NM_002318 10-PARJZZ LOXL2 FRAMESHIFT Ins Somatic PFAM:PF01186:Lysyl_oxidase 4 0.941 SQHIGH 21 25 46 0 38 38 Cosmic_Gene ACCCCCTAGGGAGGGGG TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 4017 8 23160889 23160889 67 ALL diagnosis ins KMT2D nonsense G2219>GVR** NM_003482 10-PARJZZ KMT2D NONSENSE Ins Somatic -8 0.278 SQHIGH 11 17 28 0 28 28 Cosmic_Gene TACTAACGTACT TARGET-10-PARJZZ-09A-01D TARGET-10-PARJZZ-10A-01D 8085 12 49434896 49434896 38 ALL diagnosis del PRRC2A frameshift E1810fs NM_080686 10-PARLZG PRRC2A FRAMESHIFT Del Somatic -7 0.245 SQHIGH 4 24 28 0 39 39 Cosmic_Gene A A A A TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 7916 6 31603414 31603414 16 ALL diagnosis ins AMMECR1 frameshift R152fs NM_015365 10-PARLZG AMMECR1 FRAMESHIFT Ins Somatic PFAM:PF01871:AMMECR1 -8 0.265 SQHIGH 13 21 34 0 39 39 G TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 9949 X 109560845 109560845 50 ALL diagnosis ins BCORL1 frameshift L1632fs NM_021946 10-PARLZG BCORL1 FRAMESHIFT Ins Somatic -8 0.265 SQHIGH 27 55 82 2 86 88 Cosmic_Gene T TARGET-10-PARLZG-03A-01D TARGET-10-PARLZG-14A-01D 63035 X 129189869 129189869 75 ALL relapse ins FLI1 frameshift E148fs NM_002017 10-PARLZG FLI1 FRAMESHIFT Ins Somatic -4 0.424 SQHIGH 37 62 99 0 74 74 Cosmic_Gene TATGGGA TARGET-10-PARLZG-04A-01D TARGET-10-PARLZG-14A-01D 2313 11 128642735 128642735 105 ALL diagnosis ins KY frameshift N385fs NM_178554 10-PARMSP KY FRAMESHIFT Ins Somatic -6 0.336 SQHIGH 8 63 71 0 53 53 Cosmic_Gene GAACA TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 339855 3 134323253 134323253 20 ALL diagnosis del NTN3 proteinDel K461del NM_006181 10-PARMSP NTN3|TBC1D24 DELETE|TSS-UPSTREAM Del Somatic 2 0.639 SQHIGH 7 17 24 1 33 34 Cosmic_Gene AAG AAG AAG AAG TARGET-10-PARMSP-09A-01D TARGET-10-PARMSP-14A-01D 4917|57465 16 2523492 2523494 22 ALL diagnosis del PTH2 frameshift L95fs NM_178449 10-PARNMF PTH2|LOC100507003 FRAMESHIFT|TSS-UPSTREAM Del Somatic 4 0.934 SQHIGH 17 25 42 0 47 47 G G G G TARGET-10-PARNMF-03A-01D TARGET-10-PARNMF-10A-01D 113091|100507003 19 49925745 49925745 65 ALL relapse ins ZNF423 proteinIns S366>SPS NM_015069 10-PARNMF ZNF423 INSERT Ins Somatic 0 0.622 SQHIGH 19 35 54 0 35 35 Cosmic_Gene GGAAGG TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 23090 16 49671964 49671964 48 ALL relapse del PTH2 frameshift L95fs NM_178449 10-PARNMF PTH2|LOC100507003 FRAMESHIFT|TSS-UPSTREAM Del Somatic 3 0.786 SQHIGH 25 30 55 0 47 47 G G G G TARGET-10-PARNMF-04A-01D TARGET-10-PARNMF-10A-01D 113091|100507003 19 49925745 49925745 81 ALL diagnosis del DCP1A frameshift P438_S439fs NM_018403 10-PARNSH DCP1A FRAMESHIFT Del Somatic -1 0.425 SQHIGH 15 18 33 0 49 49 GAGG GAGG GAGG GAGG TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 55802 3 53326166 53326169 70 ALL diagnosis del RAD21 frameshift P283fs NM_006265 10-PARNSH RAD21 FRAMESHIFT Del Somatic -1 0.425 SQHIGH 28 26 54 2 46 48 Cosmic_Gene G G G G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 5885 8 117868493 117868493 74 ALL diagnosis ins IGF2 frameshift K120fs NM_000612 10-PARNSH INS-IGF2|IGF2 UTR|FRAMESHIFT Ins Somatic PFAM:PF08365:IGF2_C -7 0.303 SQHIGH 6 49 55 0 47 47 Cosmic_Gene G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 723961|3481 11 2154401 2154401 17 ALL diagnosis ins KMT2D frameshift Q1174fs NM_003482 10-PARNSH KMT2D FRAMESHIFT Ins Somatic -6 0.337 SQHIGH 25 23 48 0 54 54 Cosmic_Gene CCCCA TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 8085 12 49443849 49443849 101 ALL diagnosis ins NF1 frameshift S2642fs NM_000267 10-PARNSH NF1 FRAMESHIFT Ins Somatic -6 0.337 SQHIGH 29 29 58 0 59 59 Cosmic_Gene GGGCC TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 4763 17 29685516 29685516 109 ALL relapse del DCP1A frameshift P438_S439fs NM_018403 10-PARNSH DCP1A FRAMESHIFT Del Somatic -1 0.419 SQHIGH 7 28 35 0 49 49 GAGG GAGG GAGG GAGG TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 55802 3 53326166 53326169 28 ALL relapse ins KMT2D frameshift Q1174fs NM_003482 10-PARNSH KMT2D FRAMESHIFT Ins Somatic -6 0.328 SQHIGH 12 29 41 0 54 54 Cosmic_Gene CCCCA TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 8085 12 49443849 49443849 48 ALL relapse del BFAR frameshift V246_K247fs NM_016561 10-PARNSH BFAR FRAMESHIFT Del Somatic PFAM:PF07647:SAM_2 -7 0.255 SQHIGH 3 11 14 0 23 23 Cosmic_Gene CA CA CA CA TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 51283 16 14749022 14749023 13 ALL relapse ins NF1 frameshift S2642fs NM_000267 10-PARNSH NF1 FRAMESHIFT Ins Somatic -6 0.328 SQHIGH 18 47 65 0 59 59 Cosmic_Gene GGGCC TARGET-10-PARNSH-04A-01D TARGET-10-PARNSH-14A-01D 4763 17 29685516 29685516 56 ALL diagnosis ins CPAMD8 proteinIns L594>LHL NM_015692 10-PARPCA CPAMD8 INSERT Ins Somatic PFAM:PF07703:A2M_N_2 5 0.939 SQHIGH 4 33 43 0 43 46 Cosmic_Gene AGATGA TARGET-10-PARPCA-09A-01D TARGET-10-PARPCA-10A-01D 27151 19 17088295 17088295 14 ALL relapse ins AP3M2 frameshift P253fs NM_001134296 10-PARPNM AP3M2 NONSENSE Ins Somatic PFAM:PF00928:Adap_comp_sub -8 0.349 SQHIGH 8 16 24 3 43 46 T TARGET-10-PARPNM-04A-01D TARGET-10-PARPNM-10A-01D 10947 8 42023033 42023033 22 ALL diagnosis ins DDI2 frameshift T115fs NM_032341 10-PARPNM DDI2 FRAMESHIFT Ins Somatic -6 0.461 SQHIGH 5 15 20 1 38 39 T TARGET-10-PARPNM-09A-01D TARGET-10-PARPNM-10A-01D 84301 1 15956894 15956894 18 ALL diagnosis ins PLEKHG1 frameshift C1216fs NM_001029884 10-PARPRW PLEKHG1 FRAMESHIFT Ins Somatic -5 0.414 SQHIGH 9 27 36 0 49 49 Cosmic_Gene GA TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 57480 6 151161522 151161522 36 ALL diagnosis del TCF3 frameshift G470fs NM_003200 10-PARPRW TCF3 FRAMESHIFT Del Somatic 3 0.782 SQHIGH 15 25 40 2 77 79 Cosmic_Gene C C C C TARGET-10-PARPRW-09A-01D TARGET-10-PARPRW-10A-01D 6929 19 1619151 1619151 61 ALL diagnosis del FLT3 proteinDel I836_M837>M NM_004119 10-PARSGC FLT3 DELETE Del dbsnp.133:rs121913490 Somatic PFAM:PF03109:ABC1 1 0.572 SQHIGH 17 32 49 0 48 48 COSMIC:mut:797 Cosmic_Gene ATG ATG ATG ATG TARGET-10-PARSGC-03A-01D TARGET-10-PARSGC-10A-01D 2322 13 28592635 28592637 58 ALL relapse ins CAMTA1 proteinIns D187>ES NM_015215 10-PARSZH CAMTA1 INSERT+ Ins Somatic 2 0.790 SQHIGH 42 31 73 0 71 71 Cosmic_Gene ATC TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 23261 1 7700509 7700509 160 ALL relapse ins VPS26B frameshift S21fs NM_052875 10-PARSZH NCAPD3|VPS26B TSS-UPSTREAM|NONSENSE Ins Somatic PFAM:PF03643:Vps26 -2 0.523 SQHIGH 20 29 49 0 52 52 Cosmic_Gene TCCC TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 23310|112936 11 134095078 134095078 74 ALL relapse ins ADAMTS17 splice R344_E7splice NM_139057 10-PARSZH ADAMTS17 ACCEPTOR Ins Somatic -8 0.248 SQHIGH 7 29 38 1 45 49 Cosmic_Gene A TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 170691 15 100794386 100794386 19 ALL relapse ins TJP3 frameshift S801fs NM_001267560 10-PARSZH TJP3 FRAMESHIFT Ins Somatic 0 0.642 SQHIGH 13 27 40 1 54 55 Cosmic_Gene CG TARGET-10-PARSZH-04A-01D TARGET-10-PARSZH-14A-01D 27134 19 3747872 3747872 45 ALL diagnosis ins VPS26B frameshift S21fs NM_052875 10-PARSZH NCAPD3|VPS26B TSS-UPSTREAM|NONSENSE Ins Somatic PFAM:PF03643:Vps26 -2 0.531 SQHIGH 15 30 45 0 52 52 Cosmic_Gene TCCC TARGET-10-PARSZH-09A-01D TARGET-10-PARSZH-14A-01D 23310|112936 11 134095078 134095078 57 ALL relapse ins SNX18 frameshift L562fs NM_001145427 10-PARTKL SNX18 FRAMESHIFT,INTRON Ins Somatic -10 0.187 SQHIGH 5 39 44 0 46 46 G TARGET-10-PARTKL-04A-01D TARGET-10-PARTKL-14A-01D 112574 5 53815466 53815466 16 ALL diagnosis ins SETD2 frameshift G1365fs NM_014159 10-PARTYT SETD2 FRAMESHIFT Ins Somatic -4 0.369 SQHIGH 21 9 30 2 60 62 Cosmic_Gene CCCTGGG TARGET-10-PARTYT-09A-01D TARGET-10-PARTYT-10A-01D 29072 3 47162031 47162031 110 ALL diagnosis del PCDH15 splice_region E298_E10splice_region NM_001142763 10-PARTYT PCDH15 ACCEPTOR Del Somatic -6 0.258 SQHIGH 15 15 30 1 19 20 Cosmic_Gene A A A A TARGET-10-PARTYT-09A-01D TARGET-10-PARTYT-10A-01D 65217 10 55996695 55996695 32 ALL diagnosis del HDAC7 frameshift S178_L179fs NM_015401 10-PARTYT HDAC7 FRAMESHIFT Del Somatic -1 0.386 SQHIGH 8 31 39 0 26 26 Cosmic_Gene GG GG GG GG TARGET-10-PARTYT-09A-01D TARGET-10-PARTYT-10A-01D 51564 12 48191209 48191210 19 ALL diagnosis del LOC101927023 EXON E9_exon NM_022140 10-PARUGP EPB41L4A INTRON Del Somatic -6 0.259 SQHIGH 13 22 35 2 44 46 Cosmic_Gene A A A A TARGET-10-PARUGP-09A-01D TARGET-10-PARUGP-10A-01D 64097 5 111592986 111592986 37 ALL diagnosis del ODF3 splice_region G104_E4splice_region NM_053280 10-PARVBS ODF3 ACCEPTOR Del Somatic -10 0.229 SQHIGH 6 26 32 0 27 27 Cosmic_Gene G G G G TARGET-10-PARVBS-03A-01D TARGET-10-PARVBS-10A-01D 113746 11 198193 198193 17 ALL diagnosis del EFNB2 frameshift E285_S287fs NM_004093 10-PARVWD EFNB2 FRAMESHIFT Del Somatic 1 0.628 SQHIGH 32 34 66 0 75 75 Cosmic_Gene CTGGGCT CTGGGCT CTGGGCT CTGGGCT TARGET-10-PARVWD-09A-01D TARGET-10-PARVWD-10A-01D 1948 13 107145530 107145536 129 ALL diagnosis ins MITF splice S35_E2splice NM_198159 10-PARWVN MITF ACCEPTOR Ins Somatic -6 0.337 SQHIGH 5 32 37 0 35 35 Cosmic_Gene G TARGET-10-PARWVN-03A-01D TARGET-10-PARWVN-10A-01D 4286 3 69928282 69928282 15 ALL diagnosis ins TM9SF3 splice_region G141_E4splice_region NM_020123 10-PARWVN TM9SF3 ACCEPTOR Ins Somatic -9 0.205 SQHIGH 4 30 34 0 50 50 A TARGET-10-PARWVN-03A-01D TARGET-10-PARWVN-10A-01D 56889 10 98321904 98321904 16 ALL diagnosis del KMT2D frameshift V2909_S2910fs NM_003482 10-PARWVN KMT2D FRAMESHIFT Del Somatic 2 0.734 SQHIGH 22 49 71 0 76 76 Cosmic_Gene ACTT ACTT ACTT ACTT TARGET-10-PARWVN-03A-01D TARGET-10-PARWVN-10A-01D 8085 12 49432409 49432412 78 ALL relapse del KMT2D frameshift V2909_S2910fs NM_003482 10-PARWVN KMT2D FRAMESHIFT Del Somatic 1 0.640 SQHIGH 24 53 77 0 76 76 Cosmic_Gene ACTT ACTT ACTT ACTT TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 8085 12 49432409 49432412 81 ALL relapse ins RABGGTA splice_region K38_E3splice_region NM_182836 10-PARWVN RABGGTA INTRON Ins Somatic -6 0.341 SQHIGH 18 42 60 2 62 64 C TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 5875 14 24740036 24740036 45 ALL relapse ins DDX3X frameshift I552fs NM_001356 10-PARWVN DDX3X FRAMESHIFT Ins Somatic 5 0.994 SQHIGH 18 33 51 0 51 51 Cosmic_Gene G TARGET-10-PARWVN-04A-01D TARGET-10-PARWVN-10A-01D 1654 X 41206150 41206150 62 ALL relapse ins GPR110 frameshift L212fs NM_025048 10-PARXMC GPR110 INTRON,NONSENSE Ins Somatic -5 0.356 SQHIGH 9 44 53 2 62 64 Cosmic_Gene A TARGET-10-PARXMC-04A-01D TARGET-10-PARXMC-14A-01D 266977 6 46988208 46988208 19 ALL diagnosis ins GNAS frameshift Q8fs NM_016592 10-PASDYK GNAS|GNAS-AS1 FRAMESHIFT|INTRON Ins Somatic -7 0.268 SQHIGH 3 11 14 0 24 24 Cosmic_Gene G TARGET-10-PASDYK-09A-01D TARGET-10-PASDYK-10A-01D 2778|149775 20 57415183 57415183 14 ALL relapse del HDGFL1 frameshift L19_K20fs NM_138574 10-PASEVJ HDGFL1 FRAMESHIFT Del Somatic 2 0.665 SQHIGH 26 39 65 0 50 50 AA AA AA AA TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 154150 6 22569861 22569862 76 ALL relapse del HDGFL1 frameshift H24_W25fs NM_138574 10-PASEVJ HDGFL1 FRAMESHIFT Del Somatic -1 0.410 SQHIGH 27 43 70 0 57 57 CACTG CACTG CACTG CACTG TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 154150 6 22569874 22569878 82 ALL relapse ins ANP32A-IT1 EXON E1_exon NM_006305 10-PASEVJ MIR4312|ANP32A|ANP32A-IT1 TSS-UPSTREAM|INTRON|UTR Ins Somatic -8 0.224 SQHIGH 6 37 43 0 41 41 G TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 100422971|8125|80035 15 69098201 69098201 18 ALL relapse ins KDM6A frameshift Q1039fs NM_021140 10-PASEVJ KDM6A FRAMESHIFT Ins Somatic -8 0.224 SQHIGH 7 14 21 0 35 35 Cosmic_Gene C TARGET-10-PASEVJ-40A-01D TARGET-10-PASEVJ-10A-01D 7403 X 44938568 44938568 33 ALL diagnosis del NSMAF frameshift R908_Q909fs NM_003580 10-PASFTL NSMAF FRAMESHIFT Del Somatic -1 0.436 SQHIGH 12 42 54 0 35 35 Cosmic_Gene TGTC TGTC TGTC TGTC TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 8439 8 59496693 59496696 28 ALL relapse ins SLC9A1 frameshift R700fs NM_003047 10-PASFXA SLC9A1 FRAMESHIFT Ins Somatic -6 0.442 SQHIGH 36 39 75 1 43 44 Cosmic_Gene G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 6548 1 27427705 27427705 78 ALL relapse ins DLGAP3 frameshift P98fs NM_001080418 10-PASFXA DLGAP3 FRAMESHIFT Ins Somatic -6 0.442 SQHIGH 10 19 29 1 23 24 Cosmic_Gene G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 58512 1 35370690 35370690 22 ALL relapse ins MRPL55 frameshift L55fs NM_181454 10-PASFXA MRPL55|C1orf35 FRAMESHIFT|TSS-UPSTREAM Ins Somatic PFAM:PF09776:Mitoc_L55 -2 0.666 SQHIGH 8 20 28 0 24 24 Cosmic_Gene C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 128308|79169 1 228295433 228295433 24 ALL relapse ins C2orf68 frameshift G17fs NM_001013649 10-PASFXA USP39|C2orf68 TSS-UPSTREAM|FRAMESHIFT Ins Somatic PFAM:PF10573:UPF0561 -4 0.559 SQHIGH 28 34 62 1 27 28 Cosmic_Gene C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10713|388969 2 85839056 85839056 45 ALL relapse ins GHSR frameshift R75fs NM_198407 10-PASFXA GHSR FRAMESHIFT Ins Somatic PFAM:PF10320:7TM_GPCR_Srsx -2 0.666 SQHIGH 5 31 36 0 38 38 Cosmic_Gene A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 2693 3 172165980 172165980 16 ALL relapse ins NPNT frameshift K239fs NM_001033047 10-PASFXA NPNT FRAMESHIFT Ins Somatic PFAM:PF07645:EGF_CA -7 0.349 SQHIGH 13 21 34 0 20 20 Cosmic_Gene A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 255743 4 106861744 106861744 31 ALL relapse ins TFAP2A frameshift E233fs NM_003220 10-PASFXA TFAP2A FRAMESHIFT Ins Somatic PFAM:PF03299:TF_AP-2 -7 0.349 SQHIGH 13 15 28 0 28 28 Cosmic_Gene T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 7020 6 10404805 10404805 47 ALL relapse ins STEAP4 frameshift F279fs NM_024636 10-PASFXA STEAP4 INTRON,FRAMESHIFT Ins Somatic PFAM:PF01794:Ferric_reduct -6 0.442 SQHIGH 17 17 34 0 44 44 A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 79689 7 87912103 87912103 74 ALL relapse ins MYOM2 frameshift L872fs NM_003970 10-PASFXA MYOM2 FRAMESHIFT Ins Somatic -6 0.442 SQHIGH 23 7 40 2 39 43 Cosmic_Gene A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 9172 8 2048840 2048840 98 ALL relapse ins WAC frameshift A549fs NM_016628 10-PASFXA WAC FRAMESHIFT,UTR Ins Somatic -3 0.612 SQHIGH 5 13 18 0 23 23 Cosmic_Gene C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 51322 10 28905190 28905190 19 ALL relapse ins ZFYVE27 splice E268_E6splice NM_001002261 10-PASFXA ZFYVE27 DONOR Ins Somatic -8 0.290 SQHIGH 5 11 16 0 13 13 Cosmic_Gene A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 118813 10 99510229 99510229 14 ALL relapse ins PAK1 frameshift L484fs NM_001128620 10-PASFXA PAK1 FRAMESHIFT Ins Somatic PFAM:PF03109:ABC1 -7 0.349 SQHIGH 18 21 39 0 27 27 Cosmic_Gene A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 5058 11 77043873 77043873 50 ALL relapse ins KBTBD3 frameshift I117fs NM_152433 10-PASFXA KBTBD3 FRAMESHIFT Ins Somatic PFAM:PF00651:BTB -8 0.290 SQHIGH 6 16 22 1 28 29 Cosmic_Gene T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 143879 11 105925066 105925066 17 ALL relapse ins PAX9 frameshift K254fs NM_006194 10-PASFXA PAX9 FRAMESHIFT Ins Somatic 1 0.820 SQHIGH 16 36 52 1 47 48 Cosmic_Gene A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 5083 14 37135794 37135794 41 ALL relapse ins AHNAK2 frameshift K1743fs NM_138420 10-PASFXA AHNAK2 FRAMESHIFT Ins Somatic -1 0.723 SQHIGH 24 31 55 0 61 61 Cosmic_Gene T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 113146 14 105416559 105416559 92 ALL relapse ins BRF1 frameshift K313fs NM_001519 10-PASFXA BRF1 FRAMESHIFT Ins Somatic -7 0.349 SQHIGH 12 26 38 1 27 28 Cosmic_Gene T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 2972 14 105692603 105692603 24 ALL relapse ins SPG11 frameshift N1989fs NM_025137 10-PASFXA SPG11 FRAMESHIFT,INTRON Ins Somatic -4 0.559 SQHIGH 11 37 48 1 78 79 Cosmic_Gene T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 80208 15 44867139 44867139 41 ALL relapse ins SLC24A5 frameshift Q261fs NM_205850 10-PASFXA SLC24A5 FRAMESHIFT Ins Somatic -2 0.666 SQHIGH 9 18 27 1 22 23 A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 283652 15 48429070 48429070 19 ALL relapse ins CENPV frameshift K177fs NM_181716 10-PASFXA CENPV FRAMESHIFT Ins Somatic PFAM:PF04828:GFA -3 0.612 SQHIGH 16 42 58 2 51 53 T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 201161 17 16251978 16251978 33 ALL relapse ins CACNA1G frameshift H1774fs NM_018896 10-PASFXA CACNA1G FRAMESHIFT Ins Somatic PFAM:PF00520:Ion_trans PFAM:PF08016:PKD_channel -6 0.442 SQHIGH 17 31 48 1 39 40 Cosmic_Gene C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 8913 17 48695598 48695598 41 ALL relapse ins LPHN1 frameshift P51fs NM_001008701 10-PASFXA LPHN1 FRAMESHIFT Ins Somatic PFAM:PF02140:Gal_Lectin -1 0.723 SQHIGH 24 20 44 1 31 32 Cosmic_Gene G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 22859 19 14288473 14288473 61 ALL relapse ins DPY19L3 frameshift F19fs NM_207325 10-PASFXA DPY19L3 FRAMESHIFT Ins Somatic -6 0.442 SQHIGH 14 25 39 2 41 43 Cosmic_Gene T TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 147991 19 32899213 32899213 35 ALL relapse ins ANKRD27 splice_region V35_E3splice_region NM_032139 10-PASFXA ANKRD27 ACCEPTOR Ins Somatic -6 0.442 SQHIGH 18 23 41 1 36 37 Cosmic_Gene A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 84079 19 33140702 33140702 49 ALL relapse ins COL18A1 frameshift A743fs NM_030582 10-PASFXA COL18A1 FRAMESHIFT Ins Somatic 3 0.912 SQHIGH 18 31 49 2 40 42 Cosmic_Gene C TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 80781 21 46902721 46902721 38 ALL relapse ins RFPL1S EXON E1_exon NM_021026 10-PASFXA RFPL1-AS1|RFPL1 UTR|INTRON Ins Somatic -5 0.503 SQHIGH 9 30 39 2 36 38 G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 10740|5988 22 29835545 29835545 16 ALL relapse ins HORMAD2-AS1 EXON E11_exon NM_153050 10-PASFXA MTMR3 INTRON Ins Somatic -6 0.442 SQHIGH 12 29 41 0 39 39 Cosmic_Gene A TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 8897 22 30404813 30404813 39 ALL relapse ins MIEF1 frameshift G280fs NM_019008 10-PASFXA SMCR7L FRAMESHIFT Ins Somatic PFAM:PF03281:Mab-21 -2 0.666 SQHIGH 19 38 57 1 48 49 Cosmic_Gene G TARGET-10-PASFXA-04A-01D TARGET-10-PASFXA-10A-01D 54471 22 39909773 39909773 48 ALL relapse del TSSC1 frameshift R77_G78fs NM_003310 10-PASHUI TSSC1 FRAMESHIFT Del Somatic -4 0.313 SQHIGH 14 12 26 0 21 21 CT CT CT CT TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 7260 2 3341815 3341816 45 ALL relapse ins SLC39A5 frameshift R322fs NM_173596 10-PASHUI SLC39A5 FRAMESHIFT Ins Somatic -5 0.386 SQHIGH 51 55 106 0 66 66 Cosmic_Gene G TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 283375 12 56630198 56630198 135 ALL relapse ins SLC39A5 frameshift R323fs NM_173596 10-PASHUI SLC39A5 FRAMESHIFT Ins Somatic 0 0.656 SQHIGH 58 59 117 0 65 65 Cosmic_Gene AGGGGAG TARGET-10-PASHUI-04A-01D TARGET-10-PASHUI-10A-01D 283375 12 56630201 56630201 142 ALL diagnosis ins SLC39A5 frameshift R322fs NM_173596 10-PASHUI SLC39A5 FRAMESHIFT Ins Somatic -5 0.387 SQHIGH 47 59 106 0 66 66 Cosmic_Gene G TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 283375 12 56630198 56630198 121 ALL diagnosis ins SLC39A5 frameshift R323fs NM_173596 10-PASHUI SLC39A5 FRAMESHIFT Ins Somatic 0 0.651 SQHIGH 51 60 111 0 65 65 Cosmic_Gene AGGGGAG TARGET-10-PASHUI-09A-01D TARGET-10-PASHUI-10A-01D 283375 12 56630201 56630201 127 ALL diagnosis del MRGPRG frameshift P233fs NM_001164377 10-PASIIK MRGPRG|C11orf36 FRAMESHIFT|TSS-UPSTREAM Del Somatic -5 0.309 SQHIGH 7 4 11 0 20 20 G G G G TARGET-10-PASIIK-03A-01D TARGET-10-PASIIK-10A-01D 386746|283303 11 3239346 3239346 39 ALL diagnosis ins ACAD10 frameshift R484fs NM_001136538 10-PASIIK ACAD10 FRAMESHIFT Ins Somatic -9 0.191 SQHIGH 3 11 14 0 29 29 Cosmic_Gene A TARGET-10-PASIIK-03A-01D TARGET-10-PASIIK-10A-01D 80724 12 112167725 112167725 15 ALL relapse del HFM1 splice W894_E25splice NM_001017975 10-PASKHT HFM1 ACCEPTOR Del Somatic -3 0.341 SQHIGH 12 12 24 2 35 37 A A A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 164045 1 91784769 91784769 41 ALL relapse del BIN1 frameshift Q184fs NM_139343 10-PASKHT BIN1 FRAMESHIFT,INTRON Del Somatic -3 0.341 SQHIGH 19 38 57 2 36 38 Cosmic_Gene G G G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 274 2 127825801 127825801 31 ALL relapse ins ICOS frameshift S93fs NM_012092 10-PASKHT ICOS FRAMESHIFT Ins Somatic PFAM:PF00047:ig -9 0.208 SQHIGH 13 11 24 1 23 24 T TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 29851 2 204820578 204820578 39 ALL relapse del FBXW7 splice_region S195_E4splice_region NM_033632 10-PASKHT FBXW7 ACCEPTOR Del Somatic -10 0.213 SQHIGH 9 5 14 1 14 15 Cosmic_Gene A A A A TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 55294 4 153268228 153268228 28 ALL relapse del MYH7 splice A1325_E30splice NM_000257 10-PASKHT MYH7|MIR208B ACCEPTOR|TSS-UPSTREAM Del Somatic -2 0.429 SQHIGH 25 27 53 3 37 45 Cosmic_Gene G G G G TARGET-10-PASKHT-04A-01D TARGET-10-PASKHT-10A-01D 4625|100126336 14 23887618 23887618 48 ALL diagnosis ins MUC17 frameshift S3085fs NM_001040105 10-PASLZM MUC17 FRAMESHIFT Ins Somatic -3 0.572 SQHIGH 8 20 28 2 30 32 Cosmic_Gene T TARGET-10-PASLZM-03A-01D TARGET-10-PASLZM-10A-01D 140453 7 100683951 100683951 16 ALL diagnosis ins DMXL2 frameshift K302fs NM_015263 10-PASLZM DMXL2 FRAMESHIFT Ins Somatic -9 0.227 SQHIGH 4 11 15 0 23 23 Cosmic_Gene C TARGET-10-PASLZM-03A-01D TARGET-10-PASLZM-10A-01D 23312 15 51837805 51837805 17 ALL relapse ins DBN1 frameshift C98fs NM_004395 10-PASLZM DBN1 FRAMESHIFT Ins Somatic -9 0.278 SQHIGH 20 30 50 2 31 33 Cosmic_Gene A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1627 5 176894781 176894781 34 ALL relapse ins KRIT1 frameshift K48fs NM_194456 10-PASLZM KRIT1 FRAMESHIFT Ins Somatic -9 0.278 SQHIGH 9 28 37 1 24 25 Cosmic_Gene T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 889 7 91870425 91870425 15 ALL relapse ins CTBP2 frameshift R360fs NM_022802 10-PASLZM CTBP2 FRAMESHIFT,INTRON Ins Somatic -9 0.278 SQHIGH 11 43 54 0 41 41 T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 1488 10 126715250 126715250 29 ALL relapse ins CEP57 frameshift K260fs NM_014679 10-PASLZM CEP57 FRAMESHIFT Ins Somatic PFAM:PF06657:DUF1167 -9 0.278 SQHIGH 8 30 38 1 33 34 Cosmic_Gene A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 9702 11 95555112 95555112 17 ALL relapse ins ATP10A frameshift K791fs NM_024490 10-PASLZM ATP10A FRAMESHIFT Ins Somatic -10 0.225 SQHIGH 14 40 54 2 32 34 Cosmic_Gene T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 57194 15 25953419 25953419 18 ALL relapse ins ZBTB21 frameshift K134fs NM_001098402 10-PASLZM ZBTB21 FRAMESHIFT Ins Somatic -5 0.509 SQHIGH 18 39 57 3 39 42 Cosmic_Gene T TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 49854 21 43413802 43413802 26 ALL relapse del CCDC102B frameshift I331_K332fs NM_001093729 10-PASMVF CCDC102B FRAMESHIFT Del Somatic 1 0.595 SQHIGH 13 48 61 0 73 73 Cosmic_Gene ATAA ATAA ATAA ATAA TARGET-10-PASMVF-04A-01D TARGET-10-PASMVF-10A-01D 79839 18 66541960 66541963 48 ALL diagnosis ins BBX frameshift H428fs NM_001142568 10-PASMVF BBX FRAMESHIFT Ins Somatic -3 0.478 SQHIGH 18 59 77 0 67 67 Cosmic_Gene TGGCCCCT TARGET-10-PASMVF-09A-01D TARGET-10-PASMVF-10A-01D 56987 3 107491850 107491850 53 ALL diagnosis del RBP3 proteinDel F278del NM_002900 10-PASSXJ RBP3 DELETE Del Somatic -4 0.289 SQHIGH 9 64 73 0 83 83 Cosmic_Gene GAA GAA GAA GAA TARGET-10-PASSXJ-03A-01D TARGET-10-PASSXJ-10A-01D 5949 10 48390044 48390046 31 ALL relapse del RBP3 proteinDel F278del NM_002900 10-PASSXJ RBP3 DELETE Del Somatic 3 0.783 SQHIGH 22 36 58 0 83 83 Cosmic_Gene GAA GAA GAA GAA TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 5949 10 48390044 48390046 97 ALL relapse ins PKP2 splice_region A723_E11splice_region NM_001005242 10-PASSXJ PKP2 ACCEPTOR Ins Somatic -5 0.346 SQHIGH 10 17 27 3 31 34 Cosmic_Gene A TARGET-10-PASSXJ-04A-01D TARGET-10-PASSXJ-10A-01D 5318 12 32949242 32949242 21 ALL relapse ins ACTG1 proteinIns S155>SP NM_001614 10-PASUBW ACTG1 INSERT+,UTR Ins Somatic PFAM:PF00022:Actin -6 0.321 SQHIGH 41 36 77 0 64 64 Cosmic_Gene GGG TARGET-10-PASUBW-04A-01D TARGET-10-PASUBW-10A-01D 71 17 79478551 79478551 137 ALL diagnosis del C2orf70 frameshift I73fs NM_001105519 10-PASWUH C2orf70 FRAMESHIFT Del Somatic PFAM:PF10629:DUF2475 -8 0.260 SQHIGH 9 38 47 1 38 39 Cosmic_Gene C C C C TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 339778 2 26798914 26798914 18 ALL diagnosis del GON4L frameshift M1544fs NM_001282856 10-PASYGM GON4L FRAMESHIFT Del Somatic 1 0.608 SQHIGH 8 28 36 0 37 37 Cosmic_Gene A A A A TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 54856 1 155733198 155733198 26 ALL diagnosis del PALLD frameshift Q725fs NM_001166109 10-PASYGM PALLD UTR3,FRAMESHIFT Del Somatic -1 0.446 SQHIGH 4 24 28 0 34 34 Cosmic_Gene C C C C TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 23022 4 169847375 169847375 14 ALL diagnosis ins BMP6 frameshift L87fs NM_001718 10-PASYGM BMP6 FRAMESHIFT Ins Somatic PFAM:PF00688:TGFb_propeptide -4 0.453 SQHIGH 7 36 43 0 31 31 Cosmic_Gene C TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 654 6 7727448 7727448 17 ALL relapse ins TP53 proteinIns R282>RDR NM_000546 10-PATCTI TP53 INSERT Ins Somatic 1 0.697 SQHIGH 13 12 25 0 58 58 Cosmic_Gene CCGGTC TARGET-10-PATCTI-04A-01D TARGET-10-PATCTI-10A-01D 7157 17 7577091 7577091 80 ALL diagnosis del RAB44 frameshift Q693_S694fs NM_001257357 10-PATISC RAB44 FRAMESHIFT Del Somatic -2 0.415 SQHIGH 25 21 50 0 65 65 CAGT CAGT CAGT CAGT TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 401258 6 36689988 36689991 118 ALL diagnosis ins QSER1 frameshift K1146fs NM_001076786 10-PATISC QSER1 FRAMESHIFT Ins Somatic -4 0.477 SQHIGH 9 53 77 1 65 71 Cosmic_Gene A TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 79832 11 32956626 32956626 22 ALL diagnosis del NOX3 frameshift L76fs NM_015718 10-PATTEE NOX3 FRAMESHIFT Del Somatic PFAM:PF01794:Ferric_reduct -1 0.416 SQHIGH 19 34 53 3 54 57 Cosmic_Gene G G G G TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 50508 6 155775974 155775974 43 ALL diagnosis del TRUB1 frameshift G26_A33fs NM_139169 10-PATTEE TRUB1 FRAMESHIFT Del Somatic -1 0.416 SQHIGH 21 21 42 0 61 61 GAACGGTCGCAGCAATGGCTGC GAACGGTCGCAGCAATGGCTGC GAACGGTCGCAGCAATGGCTGC GAACGGTCGCAGCAATGGCTGC TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 142940 10 116698089 116698110 99 ALL diagnosis ins KMT2D frameshift Q5170fs NM_003482 10-PATTEE KMT2D FRAMESHIFT Ins Somatic 2 0.792 SQHIGH 28 34 62 3 69 72 Cosmic_Gene G TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 8085 12 49420240 49420240 80 ALL relapse del NOX3 frameshift L76fs NM_015718 10-PATTEE NOX3 FRAMESHIFT Del Somatic PFAM:PF01794:Ferric_reduct 0 0.488 SQHIGH 21 38 59 3 54 57 Cosmic_Gene G G G G TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 50508 6 155775974 155775974 44 ALL relapse ins AP3M2 frameshift I251fs NM_001134296 10-PATTEE AP3M2 FRAMESHIFT Ins Somatic PFAM:PF00928:Adap_comp_sub -6 0.330 SQHIGH 10 35 45 2 45 47 T TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 10947 8 42023028 42023028 20 ALL relapse del TRUB1 frameshift G26_A33fs NM_139169 10-PATTEE TRUB1 FRAMESHIFT Del Somatic -1 0.414 SQHIGH 18 35 53 0 61 61 GAACGGTCGCAGCAATGGCTGC GAACGGTCGCAGCAATGGCTGC GAACGGTCGCAGCAATGGCTGC GAACGGTCGCAGCAATGGCTGC TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 142940 10 116698089 116698110 68 ALL relapse ins KMT2D frameshift Q5170fs NM_003482 10-PATTEE KMT2D FRAMESHIFT Ins Somatic 2 0.792 SQHIGH 32 36 68 3 69 72 Cosmic_Gene G TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 8085 12 49420240 49420240 89 ALL relapse del KMT2D frameshift S2431_A2432fs NM_003482 10-PATTEE KMT2D FRAMESHIFT Del Somatic -1 0.414 SQHIGH 9 36 45 0 35 35 Cosmic_Gene CAGA CAGA CAGA CAGA TARGET-10-PATTEE-04A-01D TARGET-10-PATTEE-10A-01D 8085 12 49434259 49434262 24 ALL diagnosis ins FNDC4 frameshift P10fs NM_022823 10-CAAABD FNDC4|IFT172|GCKR FRAMESHIFT|TSS-UPSTREAM|TSS-UPSTREAM Ins Somatic -10 0.172 SQHIGH 11 22 33 1 20 21 Cosmic_Gene G TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 64838|26160|2646 2 27717516 27717516 19 ALL diagnosis del JARID2 frameshift E187fs NM_004973 10-CAAABD JARID2 FRAMESHIFT Del Somatic -3 0.369 SQHIGH 5 23 30 0 36 36 Cosmic_Gene G G G G TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 3720 6 15468840 15468840 19 ALL diagnosis del GZMA frameshift K128fs NM_006144 10-CAAABF GZMA FRAMESHIFT Del Somatic -4 0.386 SQHIGH 5 58 70 0 48 54 Cosmic_Gene A A A A TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 3001 5 54403977 54403977 13 ALL diagnosis del SVIL-AS1 EXON E25_exon NM_003174 10-PAKKXB SVIL INTRON Del Somatic -4 0.369 SQHIGH 5 23 28 0 29 29 Cosmic_Gene A A A A TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 6840 10 29772941 29772941 16 ALL diagnosis del USP9X frameshift L1383fs NM_001039590 10-PAKKXB USP9X FRAMESHIFT Del Somatic -3 0.396 SQHIGH 19 14 33 0 30 30 Cosmic_Gene TT TT TT TT TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 8239 X 41055906 41055907 69 ALL diagnosis del USP9X frameshift N1384_Y1385fs NM_001039590 10-PAKKXB USP9X FRAMESHIFT Del Somatic -1 0.491 SQHIGH 19 11 30 0 28 28 Cosmic_Gene TT TT TT TT TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 8239 X 41055910 41055911 72 ALL diagnosis del MPP2 frameshift P118fs NM_005374 10-PAKMVD MPP2 FRAMESHIFT Del Somatic PFAM:PF02828:L27 -3 0.393 SQHIGH 7 26 34 2 43 45 G G G G TARGET-10-PAKMVD-09A-01D TARGET-10-PAKMVD-14A-01D 4355 17 41960371 41960371 16 ALL diagnosis ins ETV6 frameshift P276fs NM_001987 10-PAKMZM ETV6 NONSENSE Ins Somatic -3 0.490 SQHIGH 20 35 55 0 49 49 Cosmic_Gene CT TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 2120 12 12022720 12022720 64 ALL diagnosis del MYO9A frameshift P1485_L1487fs NM_006901 10-PAKMZM MYO9A NONSENSE Del Somatic -1 0.469 SQHIGH 15 29 44 0 67 67 Cosmic_Gene AAGCACA AAGCACA AAGCACA AAGCACA TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 4649 15 72190383 72190389 68 ALL diagnosis del MYO9A frameshift S1483_N1484fs NM_006901 10-PAKMZM MYO9A FRAMESHIFT Del Somatic 0 0.543 SQHIGH 14 26 40 0 51 51 Cosmic_Gene ATTA ATTA ATTA ATTA TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 4649 15 72190392 72190395 57 ALL diagnosis del MYO9A frameshift N1479_S1482fs NM_006901 10-PAKMZM MYO9A NONSENSE Del Somatic 0 0.543 SQHIGH 13 33 46 0 63 63 Cosmic_Gene GACTCTGTATT GACTCTGTATT GACTCTGTATT GACTCTGTATT TARGET-10-PAKMZM-03A-01D TARGET-10-PAKMZM-14A-01D 4649 15 72190399 72190409 54 ALL diagnosis del RAD51AP2 frameshift K828fs NM_001099218 10-PAKRSL RAD51AP2 FRAMESHIFT Del Somatic -4 0.356 SQHIGH 14 13 27 1 21 22 Cosmic_Gene T T T T TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 729475 2 17697199 17697199 35 ALL diagnosis ins RAD51AP1 frameshift R225fs NM_001130862 10-PAKTAL RAD51AP1 FRAMESHIFT Ins Somatic -7 0.318 SQHIGH 5 34 40 0 54 60 A TARGET-10-PAKTAL-09A-01D TARGET-10-PAKTAL-14A-01D 10635 12 4662215 4662215 20 ALL diagnosis del SETBP1 splice_region A181_E4splice_region NM_015559 10-PAKTAL SETBP1 ACCEPTOR Del Somatic -2 0.402 SQHIGH 8 17 25 1 34 35 Cosmic_Gene C C C C TARGET-10-PAKTAL-09A-01D TARGET-10-PAKTAL-14A-01D 26040 18 42529839 42529839 26 ALL diagnosis ins CORO1B splice_region E213_E6splice_region NM_020441 10-PAKYEP CORO1B|PTPRCAP ACCEPTOR|TSS-UPSTREAM Ins Somatic -8 0.264 SQHIGH 11 10 21 0 26 26 Cosmic_Gene G TARGET-10-PAKYEP-09A-01D TARGET-10-PAKYEP-14A-01D 57175|5790 11 67208720 67208720 47 ALL diagnosis ins DNAJA1 frameshift Q172fs NM_001539 10-PALJCF DNAJA1 FRAMESHIFT Ins Somatic PFAM:PF00684:DnaJ_CXXCXGXG -9 0.222 SQHIGH 8 7 15 2 24 26 A TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 3301 9 33030536 33030536 27 ALL diagnosis del PAX5 frameshift L365_G367fs NM_016734 10-PALNTB PAX5 SPAN3 Del Somatic PFAM:PF12403:Pax2_C 2 0.698 SQHIGH 34 11 45 0 67 67 Cosmic_Gene AGTACTCACCAAGCAG AGTACTCACCAAGCAG AGTACTCACCAAGCAG AGTACTCACCAAGCAG TARGET-10-PALNTB-09A-01D TARGET-10-PALNTB-14A-01D 5079 9 36846831 36846846 188 ALL diagnosis del SLC22A20 frameshift G103fs NM_001004326 10-PALTWS SLC22A20 FRAMESHIFT,UTR Del Somatic -5 0.310 SQHIGH 8 15 23 1 20 21 Cosmic_Gene GC GC GC GC TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 440044 11 64981651 64981652 18 ALL diagnosis del UBTF splice S636_E18splice NM_014233 10-PALTWS UBTF ACCEPTOR Del Somatic -8 0.264 SQHIGH 9 20 29 2 28 30 G G G G TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 7343 17 42285282 42285282 17 ALL diagnosis ins USP9X frameshift I2123fs NM_001039590 10-PALTWS USP9X FRAMESHIFT Ins Somatic -8 0.247 SQHIGH 15 0 15 0 18 18 Cosmic_Gene TCCC TARGET-10-PALTWS-09A-01D TARGET-10-PALTWS-14B-01D 8239 X 41077783 41077783 90 ALL diagnosis ins JAK2 proteinIns L681>LGP NM_004972 10-PAMDRM JAK2 INSERT Ins Somatic PFAM:PF07714:Pkinase_Tyr -8 0.243 SQHIGH 33 1 34 0 18 18 Cosmic_Gene GGACCC GGACCC TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 3717 9 5078356 5078356 124 ALL diagnosis del MKI67 proteinDel S2223_P2224>S NM_002417 10-PAMDRM MKI67 DELETE+ Del Somatic PFAM:PF08065:K167R 0 0.534 SQHIGH 18 24 42 0 40 40 Cosmic_Gene GGA GGA GGA GGA TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 4288 10 129903433 129903435 62 ALL diagnosis ins HDAC7 frameshift K206fs NM_015401 10-PAMDRM HDAC7 FRAMESHIFT Ins Somatic 2 0.774 SQHIGH 13 14 27 1 29 30 Cosmic_Gene T TARGET-10-PAMDRM-09A-01D TARGET-10-PAMDRM-14A-01D 51564 12 48190885 48190885 41 ALL diagnosis ins ITGA4 frameshift L985fs NM_000885 10-PAMKZB ITGA4 FRAMESHIFT Ins Somatic -5 0.307 SQHIGH 4 15 19 0 29 29 Cosmic_Gene T TARGET-10-PAMKZB-09A-01D TARGET-10-PAMKZB-14A-01D 3676 2 182399614 182399614 17 ALL diagnosis ins PROZ frameshift E266fs NM_003891 10-PANSFD PROZ FRAMESHIFT Ins Somatic PFAM:PF00089:Trypsin -8 0.261 SQHIGH 15 21 36 0 19 19 CTCC TARGET-10-PANSFD-03A-01D TARGET-10-PANSFD-10A-01D 8858 13 113826014 113826014 33 ALL diagnosis ins EFHB splice M473_E6splice NM_144715 10-PANWJB EFHB DISRUPT Ins Somatic 0 0.662 SQHIGH 9 18 27 0 29 29 GGTC TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 151651 3 19947110 19947110 32 ALL diagnosis ins CNGB3 frameshift K728fs NM_019098 10-PANWJB CNGB3 FRAMESHIFT Ins Somatic -10 0.192 SQHIGH 6 51 58 0 45 45 Cosmic_Gene T TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 54714 8 87588277 87588277 16 ALL diagnosis ins UBE2O frameshift V1174fs NM_022066 10-PANWJB UBE2O FRAMESHIFT Ins Somatic -5 0.401 SQHIGH 8 20 28 1 33 34 Cosmic_Gene G TARGET-10-PANWJB-09B-01D TARGET-10-PANWJB-10A-01D 63893 17 74387381 74387381 23 ALL diagnosis ins FAM98B frameshift T232fs NM_173611 10-PAPCXR FAM98B FRAMESHIFT Ins Somatic PFAM:PF10239:DUF2465 2 0.781 SQHIGH 17 25 42 0 41 41 Cosmic_Gene T TARGET-10-PAPCXR-09A-01D TARGET-10-PAPCXR-10A-01D 283742 15 38766465 38766465 59 ALL diagnosis ins WT1 frameshift R353fs NM_000378 10-PARIKN WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 3 0.835 SQHIGH 33 20 53 0 40 40 Cosmic_Gene G TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 7490 11 32417942 32417942 109 ALL diagnosis ins ANKDD1A splice_region H46_E2splice_region NM_182703 10-PARIKN ANKDD1A INTRON Ins Somatic -2 0.541 SQHIGH 20 24 44 0 50 50 Cosmic_Gene AATGAGCTTTGGCACCGAG TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 348094 15 65208105 65208105 79 ALL diagnosis del DNM2 proteinDel E560_K561>E NM_001005360 10-PARIKN MIR199A1|DNM2 TSS-UPSTREAM|DELETE Del Somatic 3 0.772 SQHIGH 26 25 51 0 44 44 Cosmic_Gene AGA AGA AGA AGA TARGET-10-PARIKN-09A-01D TARGET-10-PARIKN-14A-01D 406976|1785 19 10930663 10930665 88 ALL diagnosis del TCEB3 frameshift A289_R294fs NM_003198 10-PARIPA TCEB3 FRAMESHIFT Del Somatic 2 0.575 SQHIGH 96 20 116 0 99 99 Cosmic_Gene GCCTCTGTGGTGAGCA GCCTCTGTGGTGAGCA GCCTCTGTGGTGAGCA GCCTCTGTGGTGAGCA TARGET-10-PARIPA-09A-01D TARGET-10-PARIPA-14A-01D 6924 1 24077882 24077897 408 ALL diagnosis ins S100A4 frameshift S32fs NM_002961 10-PARRPK S100A4|S100A5 FRAMESHIFT|TSS-UPSTREAM Ins Somatic -7 0.289 SQHIGH 5 26 31 1 45 46 A TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 6275|6276 1 153517176 153517176 14 ALL diagnosis del CDC26 frameshift N21fs NM_139286 10-PARRPK CDC26|PRPF4 FRAMESHIFT|TSS-UPSTREAM Del Somatic PFAM:PF10471:APC_CDC26 4 0.878 SQHIGH 26 27 53 1 50 51 Cosmic_Gene T T T T TARGET-10-PARRPK-09B-01D TARGET-10-PARRPK-14B-01D 246184|9128 9 116034726 116034726 81 ALL diagnosis ins TP53 proteinIns R282>PW NM_000546 10-PASFGA TP53 INSERT+ Ins Somatic 1 0.548 SQHIGH 24 0 24 0 58 58 Cosmic_Gene AGG AGG TARGET-10-PASFGA-09A-01D TARGET-10-PASFGA-14A-01D 7157 17 7577093 7577093 205 ALL diagnosis ins MGA frameshift Q2527fs NM_001164273 10-PALUAH MGA FRAMESHIFT Ins Somatic -34 0.007 4 20 24 0 21 21 Cosmic_Gene A TARGET-10-PALUAH-03A-01D TARGET-10-PALUAH-14A-01D 23269 15 42054395 42054395 11 ALL diagnosis ins TP53 frameshift P75fs NM_000546 10-PANJWJ TP53 FRAMESHIFT,TSS-UPSTREAM Ins Somatic -35 0.014 4 35 42 0 31 32 Cosmic_Gene G TARGET-10-PANJWJ-09A-01D TARGET-10-PANJWJ-14A-01D 7157 17 7579462 7579462 10 ALL diagnosis del KMT2D frameshift A4594fs NM_003482 10-PANWFL KMT2D FRAMESHIFT Del dbsnp.126:rs34613877 Somatic -22 0.099 6 23 29 0 31 31 Cosmic_Gene G G G G TARGET-10-PANWFL-09A-01D TARGET-10-PANWFL-14A-01D 8085 12 49424441 49424441 20 ALL diagnosis ins KIT frameshift G32fs NM_000222 10-PANZPJ KIT FRAMESHIFT Ins Somatic -38 0 4 48 52 0 53 53 Cosmic_Gene G TARGET-10-PANZPJ-09A-01D TARGET-10-PANZPJ-14A-01D 3815 4 55561703 55561703 12 ALL diagnosis ins NOTCH1 frameshift Q2440fs NM_017617 10-PAPACP NOTCH1 FRAMESHIFT Ins Somatic -20 0.11 4 25 29 0 24 24 Cosmic_Gene GGCTC TARGET-10-PAPACP-03A-01D TARGET-10-PAPACP-14A-01D 4851 9 139390872 139390872 11 ALL diagnosis ins ASXL2 frameshift E1218fs NM_018263 10-PAPACP ASXL2 FRAMESHIFT Ins Somatic -29 0.054 4 27 31 0 25 25 Cosmic_Gene C TARGET-10-PAPACP-03A-01D TARGET-10-PAPACP-14A-01D 55252 2 25965553 25965553 11 ALL diagnosis del TET2 frameshift Q749fs NM_001127208 10-PAPBFN TET2 NONSENSE Del Somatic -35 0.006 4 40 44 0 29 29 Cosmic_Gene A A A A TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 54790 4 106157345 106157345 9 ALL diagnosis ins CREBBP splice I1084_E16splice NM_004380 10-PAPBFN CREBBP SPAN3 Ins Somatic -37 0.005 5 19 24 0 23 23 Cosmic_Gene T TARGET-10-PAPBFN-09A-01D TARGET-10-PAPBFN-14A-01D 1387 16 3817720 3817720 16 ALL diagnosis del SLC12A5 frameshift L789fs NM_001134771 10-PAPLTZ SLC12A5 FRAMESHIFT Del Somatic -26 0.039 5 23 28 0 33 33 Cosmic_Gene T T T T TARGET-10-PAPLTZ-09A-01D TARGET-10-PAPLTZ-10A-01D 57468 20 44680429 44680429 18 ALL diagnosis del JAK2 frameshift K350fs NM_004972 10-PAPZNK JAK2 FRAMESHIFT Del Somatic -35 0.003 4 26 30 0 14 14 Cosmic_Gene A A A A TARGET-10-PAPZNK-09A-01D TARGET-10-PAPZNK-10A-01D 3717 9 5055780 5055780 7 ALL diagnosis del ATRX frameshift Q2183fs NM_000489 10-PARHUM ATRX FRAMESHIFT Del Somatic -29 0.023 4 12 16 0 15 15 Cosmic_Gene C C C C TARGET-10-PARHUM-09A-01D TARGET-10-PARHUM-10A-01D 546 X 76813072 76813072 12 ALL diagnosis ins MSH6 frameshift T1085fs NM_000179 10-PARJSR MSH6 FRAMESHIFT Ins dbsnp.130:rs63749866,dbsnp.130:rs63750431 Somatic -11 0.206 6 5 11 0 20 20 COSMIC:mut:13395,COSMIC:mut:13394,COSMIC:mut:13402 Cosmic_Gene C TARGET-10-PARJSR-09A-02D TARGET-10-PARJSR-14A-01D 2956 2 48030639 48030639 32 ALL diagnosis ins ASXL1 frameshift G643fs NM_015338 10-PARNSH ASXL1 FRAMESHIFT Ins Somatic -16 0.144 10 27 37 1 47 48 COSMIC:mut:34210 Cosmic_Gene G TARGET-10-PARNSH-03A-01D TARGET-10-PARNSH-14A-01D 171023 20 31022441 31022441 31 ALL diagnosis ins XPO1 splice S197_E8splice NM_003400 10-PASFTL XPO1 ACCEPTOR Ins Somatic -28 0.048 4 15 19 0 11 11 Cosmic_Gene A TARGET-10-PASFTL-09A-01D TARGET-10-PASFTL-10A-01D 7514 2 61726050 61726050 8 ALL diagnosis del CDK12 frameshift P1279fs NM_016507 10-PASWUH CDK12 FRAMESHIFT Del Somatic -27 0.051 4 17 21 0 23 23 Cosmic_Gene C C C C TARGET-10-PASWUH-03A-01D TARGET-10-PASWUH-10A-01D 51755 17 37686931 37686931 14 ALL diagnosis del STAG2 frameshift N459fs NM_001042749 10-PASYGM STAG2 FRAMESHIFT Del Somatic -36 0.001 4 18 22 0 21 21 Cosmic_Gene C C C C TARGET-10-PASYGM-03A-01D TARGET-10-PASYGM-10A-01D 10735 X 123191788 123191788 12 ALL diagnosis del RB1 frameshift K289fs NM_000321 10-PATISC RB1 FRAMESHIFT Del Somatic -31 0.012 4 6 10 0 12 12 Cosmic_Gene A A A A TARGET-10-PATISC-09A-01D TARGET-10-PATISC-10A-01D 5925 13 48939033 48939033 15 ALL diagnosis snv IKZF1 missense G485D NM_006060 10-PANJWJ IKZF1 MISSENSE SNP Somatic -40 0 3 26 29 0 29 29 Cosmic_Gene G G A G G TARGET-10-PANJWJ-09A-01D TARGET-10-PANJWJ-14A-01D 10320 7 50468219 50468219 9 ALL diagnosis snv NRAS missense Q61K NM_002524 10-PANSXG NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic -21 0.012 3 26 29 0 27 27 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-10-PANSXG-03A-01D TARGET-10-PANSXG-14A-01D 4893 1 115256530 115256530 9 ALL diagnosis snv ETV6 nonsense W72* NM_001987 10-PANWYH ETV6 NONSENSE SNP Somatic -17 0.03 4 29 33 0 59 59 Cosmic_Gene G G A G G TARGET-10-PANWYH-09A-01D TARGET-10-PANWYH-10A-01D 2120 12 11992126 11992126 18 ALL diagnosis snv PTPN11 missense A461T NM_002834 10-PANYYV PTPN11 MISSENSE SNP dbsnp.133:rs121918468 Somatic -14 0.035 6 38 44 0 39 39 Cosmic_Gene G G A G G TARGET-10-PANYYV-03A-01D TARGET-10-PANYYV-10A-01D 5781 12 112926248 112926248 17 ALL diagnosis snv PTPN11 missense G503V NM_002834 10-PAPBES PTPN11 MISSENSE SNP Somatic 6 0.273 SQHIGH 7 15 22 0 46 46 COSMIC:mut:14271 Cosmic_Gene G G T G G TARGET-10-PAPBES-03A-01D TARGET-10-PAPBES-14A-01D 5781 12 112926888 112926888 38 ALL diagnosis snv BRAF missense G469A NM_004333 10-PAPDUV BRAF MISSENSE SNP dbsnp.133:rs121913355 Somatic PFAM:PF03109:ABC1 -11 0.048 3 18 21 0 12 12 COSMIC:mut:460 Cosmic_Gene C C G C C TARGET-10-PAPDUV-09A-01D TARGET-10-PAPDUV-10A-01D 673 7 140481402 140481402 6 ALL diagnosis snv ATRX nonsense Q503* NM_000489 10-PAPECF ATRX NONSENSE SNP Somatic PFAM:PF04615:Utp14 -18 0.023 4 36 40 0 55 55 Cosmic_Gene G G A G G TARGET-10-PAPECF-09A-01D TARGET-10-PAPECF-10A-01D 546 X 76939241 76939241 15 ALL diagnosis snv JAK2 missense D873N NM_004972 10-PAPEWB JAK2 MISSENSE SNP Somatic -26 0.007 3 35 38 0 30 30 Cosmic_Gene G G A G G TARGET-10-PAPEWB-09A-01D TARGET-10-PAPEWB-10A-01D 3717 9 5089719 5089719 8 ALL diagnosis snv KRAS missense G13D NM_033360 10-PAPHMH KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic -25 0.01 3 22 25 0 40 40 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-10-PAPHMH-09A-01D TARGET-10-PAPHMH-14A-01D 3845 12 25398281 25398281 13 ALL diagnosis snv NRAS missense Q61K NM_002524 10-PATTEE NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic -31 0.004 3 27 30 0 26 26 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-10-PATTEE-03A-01D TARGET-10-PATTEE-10A-01D 4893 1 115256530 115256530 8 ALL diagnosis ins HDAC7 frameshift P184fs NM_015401 10-CAAABD HDAC7 FRAMESHIFT Ins Somatic -33 0.014 4 18 22 0 16 16 Cosmic_Gene G TARGET-10-CAAABD-09A-01D TARGET-10-CAAABD-14A-01D 51564 12 48191192 48191192 10 ALL diagnosis ins MYO3B frameshift K1163fs NM_001083615 10-CAAABF MYO3B FRAMESHIFT Ins Somatic -30 0.043 3 31 34 0 31 31 Cosmic_Gene A TARGET-10-CAAABF-09A-01D TARGET-10-CAAABF-14A-01D 140469 2 171376042 171376042 9 ALL diagnosis del CSF3R frameshift Q741fs NM_000760 10-PAKKXB CSF3R TSS-UPSTREAM|FRAMESHIFT Del Somatic -30 0.032 5 25 30 0 32 32 Cosmic_Gene G G G G TARGET-10-PAKKXB-03A-01D TARGET-10-PAKKXB-14A-01D 64960|1441 1 36932248 36932248 17 ALL diagnosis del PIK3R1 frameshift K382fs NM_181523 10-PALLSD PIK3R1 FRAMESHIFT Del Somatic -35 0.006 4 23 27 0 36 36 Cosmic_Gene A A A A TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 5295 5 67589156 67589156 15 ALL diagnosis ins NOTCH1 frameshift P2485fs NM_017617 10-PAPDFU NOTCH1 FRAMESHIFT Ins Somatic PFAM:PF11936:DUF3454 -26 0.067 5 18 23 0 20 20 Cosmic_Gene G TARGET-10-PAPDFU-09A-01D TARGET-10-PAPDFU-10A-01D 4851 9 139390735 139390735 15 ALL diagnosis ins SH2B3 frameshift T396fs NM_005475 10-PAPJRR SH2B3 FRAMESHIFT Ins Somatic -3 0.533 SQHIGH 66 5 71 0 43 43 Cosmic_Gene G ? TARGET-10-PAPJRR-09A-01D TARGET-10-PAPJRR-10A-01D 10019 12 111885299 111885299 255 ALL diagnosis snv JAK2 missense R683G NM_004972 10-PAKRSL JAK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr -32 0.004 3 17 20 0 22 22 COSMIC:mut:29300 Cosmic_Gene A A G A A TARGET-10-PAKRSL-03A-01D TARGET-10-PAKRSL-10A-01D 3717 9 5078360 5078360 10 ALL diagnosis snv KRAS missense G13D NM_033360 10-PALJCF KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic -21 0.014 5 31 36 0 28 28 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-10-PALJCF-09A-01D TARGET-10-PALJCF-14A-01D 3845 12 25398281 25398281 13 ALL diagnosis snv APC splice R141_E5splice NM_000038 10-PALLSD APC ACCEPTOR SNP Somatic -21 0.013 3 10 13 0 13 13 Cosmic_Gene T T C T T TARGET-10-PALLSD-03A-01D TARGET-10-PALLSD-14A-01D 324 5 112111323 112111323 10 ALL relapse snv MSH6 splice A1268_E9splice NM_000179 10-PAPNFY MSH6 DISRUPT SNP Somatic -13 0.033 18 13 31 0 37 37 Cosmic_Gene A A C A A TARGET-10-PAPNFY-04A-01D TARGET-10-PAPNFY-14A-01D 2956 2 48033589 48033589 78 ALL relapse snv NRAS missense Q61R NM_002524 10-PARDWE NRAS MISSENSE SNP dbsnp.120:rs11554290 Somatic 11 0.361 SQHIGH 11 17 28 2 27 29 COSMIC:mut:584 Cosmic_Gene T T C T T TARGET-10-PARDWE-04A-01D TARGET-10-PARDWE-14A-01D 4893 1 115256529 115256529 24 ALL relapse del TSC2 frameshift G676fs NM_000548 10-PAPAGK TSC2 FRAMESHIFT Del Somatic PFAM:PF03542:Tuberin -35 0.002 4 17 21 0 18 18 Cosmic_Gene C C C C TARGET-10-PAPAGK-04A-01D TARGET-10-PAPAGK-14A-01D 7249 16 2121866 2121866 11 ALL relapse del ARID2 frameshift M150fs NM_152641 10-PAPHEK ARID2 FRAMESHIFT Del Somatic -27 0.033 3 14 17 0 13 13 Cosmic_Gene G G G G TARGET-10-PAPHEK-04A-01D TARGET-10-PAPHEK-10A-01D 196528 12 46211484 46211484 8 ALL relapse ins NOTCH1 frameshift P2485fs NM_017617 10-PARBVI NOTCH1 FRAMESHIFT Ins Somatic PFAM:PF11936:DUF3454 -21 0.118 4 20 24 0 23 23 Cosmic_Gene G TARGET-10-PARBVI-04A-01D TARGET-10-PARBVI-10A-01D 4851 9 139390735 139390735 12 ALL relapse ins AKAP9 splice G1178_E10splice NM_005751 10-PARGHW AKAP9 DISRUPT Ins Somatic -37 0.004 4 24 28 0 32 32 Cosmic_Gene C TARGET-10-PARGHW-04A-01D TARGET-10-PARGHW-14A-01D 10142 7 91643561 91643561 14 ALL relapse ins ARID2 frameshift V622fs NM_152641 10-PASLZM ARID2 FRAMESHIFT Ins Somatic -17 0.15 3 20 23 0 18 18 Cosmic_Gene A TARGET-10-PASLZM-04A-01D TARGET-10-PASLZM-10A-01D 196528 12 46243511 46243511 8 AML relapse snv IL1RL2 missense R261Q NM_003854 20-PABLDZ IL1RL2 MISSENSE SNP Somatic -3 0.083 SQHIGH 6 36 42 0 42 42 Cosmic_Gene G G A G G TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 8808 2 102835470 102835470 19 AML relapse snv SCG2 missense G423R NM_003469 20-PABLDZ SCG2 MISSENSE SNP Somatic PFAM:PF01271:Granin 17 0.779 SQHIGH 15 24 39 0 55 55 Cosmic_Gene C C T C C TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 7857 2 224462734 224462734 66 AML relapse snv RNPEPL1 silent Y638Y NM_018226 20-PABLDZ RNPEPL1 SYNONYMOUS SNP Somatic PFAM:PF09127:Leuk-A4-hydro_C -2 0.091 SQHIGH 9 34 43 0 82 82 Cosmic_Gene C C T C C TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 57140 2 241517045 241517045 44 AML relapse snv STXBP5L missense R693W NM_014980 20-PABLDZ STXBP5L MISSENSE SNP Somatic 13 0.436 SQHIGH 12 14 26 0 34 34 Cosmic_Gene C C T C C TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 9515 3 120998770 120998770 52 AML relapse snv CHST2 silent A336A NM_004267 20-PABLDZ CHST2 SYNONYMOUS SNP Somatic PFAM:PF00685:Sulfotransfer_1 11 0.338 SQHIGH 10 20 30 0 35 35 Cosmic_Gene G G A G G TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 9435 3 142840666 142840666 38 AML relapse snv APC missense S2307T NM_000038 20-PABLDZ APC MISSENSE SNP Somatic PFAM:PF05956:APC_basic 10 0.302 SQHIGH 13 32 45 0 55 55 Cosmic_Gene T T A T T TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 324 5 112178210 112178210 50 AML relapse snv TENM2 missense R1638H NM_001122679 20-PABLDZ TENM2 MISSENSE SNP Somatic -4 0.077 SQHIGH 5 20 25 0 22 22 Cosmic_Gene G G A G G TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 57451 5 167645836 167645836 15 AML relapse snv REPS1 missense S125L NM_031922 20-PABLDZ REPS1 MISSENSE SNP Somatic 8 0.240 SQHIGH 10 23 33 0 28 28 Cosmic_Gene G G A G G TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 85021 6 139266738 139266738 30 AML relapse snv ADCY8 missense G518S NM_001115 20-PABLDZ ADCY8 MISSENSE SNP Somatic 1 0.122 SQHIGH 9 34 43 0 26 26 Cosmic_Gene C C T C C TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 114 8 131922042 131922042 20 AML relapse snv USP20 missense R276W NM_006676 20-PABLDZ USP20 MISSENSE SNP Somatic 13 0.436 SQHIGH 14 22 36 0 80 80 Cosmic_Gene C C T C C TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 10868 9 132630419 132630419 80 AML relapse snv ANO4 splice_region R151_E6splice_region NM_178826 20-PABLDZ ANO4 ACCEPTOR SNP Somatic 12 0.381 SQHIGH 17 19 36 0 48 48 Cosmic_Gene T T C T T TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 121601 12 101368615 101368615 75 AML relapse snv AMER2 silent L45L NM_152704 20-PABLDZ AMER2 SYNONYMOUS SNP Somatic -1 0.101 SQHIGH 5 11 16 0 18 18 Cosmic_Gene A A G A A TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 219287 13 25745625 25745625 18 AML relapse snv STARD9 missense V3894M NM_020759 20-PABLDZ STARD9 MISSENSE SNP Somatic -7 0.061 SQHIGH 5 32 37 0 33 33 G G A G G TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 57519 15 42985456 42985456 14 AML relapse snv TAB1 nonsense C62* NM_006116 20-PABLDZ TAB1 NONSENSE SNP Somatic -2 0.091 SQHIGH 3 20 23 0 43 43 Cosmic_Gene C C A C C TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 10454 22 39811520 39811520 14 AML relapse complex ZNF683 frameshift L73fs NM_001114759 20-PABLDZ ZNF683 FRAMESHIFT Sub Somatic -8 0.302 SQHIGH 5 20 25 0 26 26 AG AG ACC AG AG TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 257101 1 26694185 26694186 16 AML relapse mnv HERC2 missense T272I NM_004667 20-PABLDZ HERC2 MISSENSE Sub dbsnp.134:rs145030067,dbsnp.134:rs141674943 Somatic -19 0.169 8 24 32 1 30 31 Cosmic_Gene CG CG TA CG CG TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 8924 15 28518135 28518136 18 AML diagnosis snv HHAT splice_region R157_E6splice_region NM_018194 20-PABLDZ HHAT ACCEPTOR,INTRON SNP Somatic -9 0.052 SQHIGH 12 43 55 0 48 48 Cosmic_Gene A A G A A TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 55733 1 210577799 210577799 35 AML diagnosis snv CLSTN2 missense A440V NM_022131 20-PABLDZ CLSTN2 MISSENSE SNP Somatic 12 0.382 SQHIGH 16 25 41 0 57 57 Cosmic_Gene C C T C C TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 64084 3 140185548 140185548 70 AML diagnosis snv PCDHA6 silent P61P NM_018909 20-PABLDZ PCDHA4|PCDHA1|PCDHA5|PCDHA6|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|INTRON SNP Somatic 11 0.337 SQHIGH 13 16 29 0 27 27 Cosmic_Gene G G A G G TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 56144|56147|56143|56142|56145|56146 5 140207859 140207859 44 AML diagnosis snv USP20 missense R276W NM_006676 20-PABLDZ USP20 MISSENSE SNP Somatic 14 0.506 SQHIGH 14 22 36 0 80 80 Cosmic_Gene C C T C C TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 10868 9 132630419 132630419 80 AML diagnosis snv ANO4 splice_region R151_E6splice_region NM_178826 20-PABLDZ ANO4 ACCEPTOR SNP Somatic 12 0.382 SQHIGH 19 18 37 0 48 48 Cosmic_Gene T T C T T TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 121601 12 101368615 101368615 84 AML diagnosis snv DYNC1H1 missense S2957G NM_001376 20-PABLDZ DYNC1H1 MISSENSE SNP Somatic PFAM:PF00485:PRK -9 0.052 SQHIGH 7 23 30 1 38 39 Cosmic_Gene A A G A A TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 1778 14 102493608 102493608 20 AML diagnosis snv ANKRD34C missense T535S NM_001146341 20-PABLDZ ANKRD34C MISSENSE SNP Somatic 17 0.776 SQHIGH 10 17 27 0 43 43 A A T A A TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 390616 15 79587229 79587229 47 AML diagnosis snv DNAH9 silent Y1031Y NM_001372 20-PABLDZ DNAH9 SYNONYMOUS SNP Somatic -7 0.061 SQHIGH 12 14 26 0 19 19 Cosmic_Gene C C T C C TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 1770 17 11572851 11572851 35 AML diagnosis snv DDX52 missense H269P NM_007010 20-PABLDZ DDX52 MISSENSE SNP Somatic PFAM:PF00485:PRK -8 0.056 SQHIGH 4 10 14 0 22 22 Cosmic_Gene T T G T T TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 11056 17 35988658 35988658 18 AML diagnosis snv ZNF292 missense V1580F NM_015021 20-PADYIR ZNF292 MISSENSE SNP Somatic -7 0.057 SQHIGH 5 36 41 0 47 47 Cosmic_Gene G G T G G TARGET-20-PADYIR-09A-01D TARGET-20-PADYIR-14A-01D 23036 6 87968085 87968085 17 AML diagnosis snv MICAL1 silent A545A NM_022765 20-PADYIR MICAL1 SYNONYMOUS SNP Somatic 3 0.138 SQHIGH 9 17 26 1 24 25 Cosmic_Gene G G A G G TARGET-20-PADYIR-09A-01D TARGET-20-PADYIR-14A-01D 64780 6 109769964 109769964 22 AML diagnosis snv ADAM7 missense E259Q NM_003817 20-PADYIR ADAM7 MISSENSE SNP Somatic -9 0.048 SQHIGH 3 20 23 0 39 39 Cosmic_Gene G G C G G TARGET-20-PADYIR-09A-01D TARGET-20-PADYIR-14A-01D 8756 8 24339724 24339724 13 AML diagnosis snv PABPC1L silent T469T NM_001124756 20-PADYIR PABPC1L SYNONYMOUS SNP Somatic 8 0.228 SQHIGH 6 22 28 0 25 25 Cosmic_Gene C C G C C TARGET-20-PADYIR-09A-01D TARGET-20-PADYIR-14A-01D 80336 20 43561789 43561789 18 AML relapse snv RCOR3 silent A63A NM_001136223 20-PADZCG RCOR3 SYNONYMOUS SNP Somatic PFAM:PF01448:ELM2 -7 0.058 SQHIGH 5 15 20 0 16 16 Cosmic_Gene C C G C C TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 55758 1 211433472 211433472 14 AML relapse snv REV1 missense L1117P NM_016316 20-PADZCG REV1 MISSENSE SNP Somatic 18 0.893 SQHIGH 15 22 37 0 30 30 Cosmic_Gene A A G A A TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 51455 2 100019386 100019386 46 AML relapse snv XIRP2 missense E450G NM_152381 20-PADZCG XIRP2 INTRON,MISSENSE SNP Somatic 11 0.348 SQHIGH 13 28 41 0 40 40 Cosmic_Gene A A G A A TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 129446 2 168099251 168099251 43 AML relapse snv TTN silent D5177D NM_133378 20-PADZCG TTN SYNONYMOUS,INTRON SNP Somatic PFAM:PF00047:ig 3 0.145 SQHIGH 20 27 47 0 45 45 Cosmic_Gene G G A G G TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 7273 2 179593390 179593390 69 AML relapse snv GPX5 missense R180H NM_001509 20-PADZCG GPX5 UTR3,MISSENSE SNP Somatic 6 0.198 SQHIGH 12 29 41 1 19 20 Cosmic_Gene G G A G G TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 2880 6 28501817 28501817 16 AML relapse snv TCTE1 missense G467S NM_182539 20-PADZCG TCTE1 MISSENSE SNP Somatic 12 0.395 SQHIGH 15 28 43 0 49 49 Cosmic_Gene C C T C C TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 202500 6 44248025 44248025 56 AML relapse snv MED23 missense A1148T NM_004830 20-PADZCG MED23 MISSENSE SNP Somatic PFAM:PF11573:Med23 17 0.806 SQHIGH 16 16 32 0 35 35 Cosmic_Gene C C T C C TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 9439 6 131913557 131913557 63 AML relapse snv HHLA1 missense R323S NM_001145095 20-PADZCG HHLA1 MISSENSE SNP Somatic -1 0.099 SQHIGH 5 34 39 0 36 36 T T A T T TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 10086 8 133090175 133090175 15 AML relapse snv TENM4 silent L2629L NM_001098816 20-PADZCG TENM4 SYNONYMOUS SNP Somatic 15 0.613 SQHIGH 11 20 31 0 35 35 Cosmic_Gene C C T C C TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 26011 11 78369526 78369526 41 AML relapse snv CLIP3 silent T117T NM_015526 20-PADZCG CLIP3 SYNONYMOUS SNP Somatic 11 0.348 SQHIGH 13 28 41 0 37 37 Cosmic_Gene G G A G G TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 25999 19 36517903 36517903 41 AML relapse snv ZNF578 missense R276H NM_001099694 20-PADZCG ZNF578 MISSENSE SNP Somatic 10 0.307 SQHIGH 20 15 35 2 54 56 G G A G G TARGET-20-PADZCG-04A-01D TARGET-20-PADZCG-14A-01D 147660 19 53014461 53014461 81 AML diagnosis snv ADIPOR1 missense M175T NM_015999 20-PADZCG ADIPOR1 MISSENSE SNP Somatic PFAM:PF03006:HlyIII -8 0.054 SQHIGH 5 38 43 0 49 49 A A G A A TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 51094 1 202914204 202914204 17 AML diagnosis snv REV1 missense L1117P NM_016316 20-PADZCG REV1 MISSENSE SNP Somatic 16 0.704 SQHIGH 12 19 31 0 30 30 Cosmic_Gene A A G A A TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 51455 2 100019386 100019386 41 AML diagnosis snv XIRP2 missense E450G NM_152381 20-PADZCG XIRP2 INTRON,MISSENSE SNP Somatic 20 1.000 SQHIGH 18 18 36 0 40 40 Cosmic_Gene A A G A A TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 129446 2 168099251 168099251 71 AML diagnosis snv TTN silent D5177D NM_133378 20-PADZCG TTN SYNONYMOUS,INTRON SNP Somatic PFAM:PF00047:ig -3 0.082 SQHIGH 7 32 39 0 45 45 Cosmic_Gene G G A G G TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 7273 2 179593390 179593390 25 AML diagnosis snv GPX5 missense R180H NM_001509 20-PADZCG GPX5 UTR3,MISSENSE SNP Somatic 7 0.219 SQHIGH 13 21 34 1 19 20 Cosmic_Gene G G A G G TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 2880 6 28501817 28501817 22 AML diagnosis snv TCTE1 missense G467S NM_182539 20-PADZCG TCTE1 MISSENSE SNP Somatic 14 0.528 SQHIGH 25 31 56 0 49 49 Cosmic_Gene C C T C C TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 202500 6 44248025 44248025 82 AML diagnosis snv MED23 missense A1148T NM_004830 20-PADZCG MED23 MISSENSE SNP Somatic PFAM:PF11573:Med23 14 0.528 SQHIGH 12 20 32 0 35 35 Cosmic_Gene C C T C C TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 9439 6 131913557 131913557 44 AML diagnosis snv PPP2R2A missense Y244N NM_002717 20-PADZCG PPP2R2A MISSENSE SNP Somatic PFAM:PF00400:WD40 -7 0.058 SQHIGH 4 12 16 0 17 17 Cosmic_Gene T T A T T TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 5520 8 26220292 26220292 14 AML diagnosis snv KIF13B silent S1336S NM_015254 20-PADZCG KIF13B SYNONYMOUS SNP Somatic -13 0.035 4 9 13 0 27 27 C C T C C TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 23303 8 28967510 28967510 21 AML diagnosis snv TENM4 silent L2629L NM_001098816 20-PADZCG TENM4 SYNONYMOUS SNP Somatic 16 0.704 SQHIGH 14 19 33 0 35 35 Cosmic_Gene C C T C C TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 26011 11 78369526 78369526 52 AML diagnosis snv CLIP3 silent T117T NM_015526 20-PADZCG CLIP3 SYNONYMOUS SNP Somatic 12 0.396 SQHIGH 24 31 55 0 37 37 Cosmic_Gene G G A G G TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 25999 19 36517903 36517903 65 AML diagnosis snv ZNF578 missense R276H NM_001099694 20-PADZCG ZNF578 MISSENSE SNP Somatic 9 0.275 SQHIGH 12 18 30 2 54 56 G G A G G TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 147660 19 53014461 53014461 45 AML diagnosis snv MEGF10 silent C178C NM_032446 20-PAEAKL MEGF10 SYNONYMOUS SNP Somatic 4 0.233 SQHIGH 22 23 45 0 48 48 Cosmic_Gene C C T C C TARGET-20-PAEAKL-09A-01D TARGET-20-PAEAKL-10A-01D 84466 5 126732345 126732345 Somatic Illumina 85 47521 30630 78161 87384 90 87479 AML diagnosis snv DAB2IP missense T218M NM_032552 20-PAEAKL DAB2IP MISSENSE SNP Somatic 7 0.371 SQHIGH 40 27 67 1 64 65 Cosmic_Gene C C T C C TARGET-20-PAEAKL-09A-01D TARGET-20-PAEAKL-10A-01D 153090 9 124522285 124522285 Somatic Illumina 140 47775 42296 90080 89743 57 89810 AML diagnosis snv CAMSAP1 missense V129M NM_015447 20-PAEAKL CAMSAP1 MISSENSE SNP Somatic 5 0.285 SQHIGH 34 39 73 1 78 79 Cosmic_Gene C C T C C TARGET-20-PAEAKL-09A-01D TARGET-20-PAEAKL-10A-01D 157922 9 138774700 138774700 Somatic Illumina 117 13749 12159 25950 26104 42 26186 AML diagnosis snv KRAS missense Q61H NM_033360 20-PAEAKL KRAS MISSENSE SNP dbsnp.123:rs17851045 Somatic 2 0.178 SQHIGH 11 13 24 0 22 22 COSMIC:mut:554 Cosmic_Gene T T G T T TARGET-20-PAEAKL-09A-01D TARGET-20-PAEAKL-10A-01D 3845 12 25380275 25380275 37 AML diagnosis snv TNRC6A missense G1755V NM_014494 20-PAEAKL TNRC6A MISSENSE SNP Somatic 9 0.465 SQHIGH 32 33 65 0 78 78 Cosmic_Gene G G T G G TARGET-20-PAEAKL-09A-01D TARGET-20-PAEAKL-10A-01D 27327 16 24831643 24831643 Somatic Illumina 134 21658 18828 40529 40869 3 40898 AML diagnosis snv CA4 silent T174T NM_000717 20-PAEAKL CA4 SYNONYMOUS SNP Somatic 14 0.764 SQHIGH 26 20 46 0 48 48 C C A C C TARGET-20-PAEAKL-09A-01D TARGET-20-PAEAKL-10A-01D 762 17 58235430 58235430 Somatic Illumina 103 31588 22587 54218 61686 4 61715 AML diagnosis snv WTIP silent N267N NM_001080436 20-PAEAKL WTIP SYNONYMOUS SNP dbsnp.129:rs61729861 Somatic PFAM:PF00412:LIM 6 0.329 SQHIGH 23 27 50 0 42 42 C C T C C TARGET-20-PAEAKL-09A-01D TARGET-20-PAEAKL-10A-01D 126374 19 34983973 34983973 74 AML relapse snv ZNF613 missense T573S NM_001031721 20-PAECCE ZNF613 MISSENSE SNP Somatic 8 0.229 SQHIGH 6 29 35 0 40 40 Cosmic_Gene A A T A A TARGET-20-PAECCE-04A-01D TARGET-20-PAECCE-14A-01D 79898 19 52448853 52448853 21 AML relapse snv STAG2 nonsense Y297* NM_001042749 20-PAECCE STAG2 NONSENSE SNP Somatic 7 0.207 SQHIGH 9 7 16 0 14 14 Cosmic_Gene C A C TARGET-20-PAECCE-04A-01D TARGET-20-PAECCE-14A-01D 10735 X 123182926 123182926 31 AML relapse mnv AGBL5 missense R703_R704>RG NM_021831 20-PAECCE AGBL5 MISSENSE Sub Somatic -7 0.297 SQHIGH 7 31 38 0 29 29 Cosmic_Gene GAGA GAGA AGGC GAGA GAGA TARGET-20-PAECCE-04A-01D TARGET-20-PAECCE-14A-01D 60509 2 27290381 27290384 18 AML relapse snv PRG4 missense L624P NM_005807 20-PAEDKB PRG4 MISSENSE SNP Somatic -10 0.044 SQHIGH 4 17 21 0 23 23 Cosmic_Gene T T C T T TARGET-20-PAEDKB-04A-01D TARGET-20-PAEDKB-10A-01D 10216 1 186276722 186276722 14 AML relapse snv FZD6 missense E528G NM_003506 20-PAEDKB FZD6 MISSENSE SNP Somatic -1 0.091 SQHIGH 9 30 39 1 30 31 Cosmic_Gene A A G A A TARGET-20-PAEDKB-04A-01D TARGET-20-PAEDKB-10A-01D 8323 8 104341924 104341924 17 AML relapse snv DCHS1 missense D1867E NM_003737 20-PAEDKB DCHS1 MISSENSE SNP Somatic 1 0.110 SQHIGH 6 20 26 0 21 21 Cosmic_Gene A A C A A TARGET-20-PAEDKB-04A-01D TARGET-20-PAEDKB-10A-01D 8642 11 6648669 6648669 17 AML relapse snv TMEM11 missense S14R NM_003876 20-PAEDKB TMEM11 MISSENSE,UTR SNP Somatic -8 0.051 SQHIGH 9 13 22 0 17 17 A A T A A TARGET-20-PAEDKB-04A-01D TARGET-20-PAEDKB-10A-01D 8834 17 21117424 21117424 26 AML relapse mnv YPEL1 missense N81_C82>HL NM_013313 20-PAEDKB YPEL1 MISSENSE Sub Somatic PFAM:PF03226:Yippee -18 0.173 6 33 39 0 47 47 CAGTT CAGTT AGATG CAGTT CAGTT TARGET-20-PAEDKB-04A-01D TARGET-20-PAEDKB-10A-01D 29799 22 22057684 22057688 22 AML diagnosis snv SZT2 missense L3270P NM_015284 20-PAEDKB SZT2 MISSENSE SNP Somatic -6 0.060 SQHIGH 5 40 45 0 42 42 Cosmic_Gene T T C T T TARGET-20-PAEDKB-09A-01D TARGET-20-PAEDKB-10A-01D 23334 1 43914293 43914293 15 AML diagnosis mnv EGLN1 missense Q220R NM_022051 20-PAEDKB EGLN1 MISSENSE Sub Somatic PFAM:PF03171:2OG-FeII_Oxy -9 0.270 SQHIGH 5 21 26 0 30 30 CT CT TC CT CT TARGET-20-PAEDKB-09A-01D TARGET-20-PAEDKB-10A-01D 54583 1 231556975 231556976 18 AML relapse snv PAPPA2 silent T431T NM_020318 20-PAEERJ PAPPA2 SYNONYMOUS SNP Somatic PFAM:PF00354:Pentaxin 11 0.391 SQHIGH 18 22 40 0 46 46 Cosmic_Gene C C T C C TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 60676 1 176564033 176564033 71 AML relapse snv DNER missense T172M NM_139072 20-PAEERJ DNER MISSENSE SNP dbsnp.134:rs143332732 Somatic 15 0.625 SQHIGH 9 16 25 0 34 34 Cosmic_Gene G G A G G TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 92737 2 230456366 230456366 38 AML relapse snv KALRN silent A594A NM_001024660 20-PAEERJ KALRN SYNONYMOUS SNP Somatic 17 0.794 SQHIGH 13 23 36 0 42 42 Cosmic_Gene G G A G G TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 8997 3 124103709 124103709 50 AML relapse snv MSH5 missense R448H NM_025259 20-PAEERJ MSH5|MSH5-C6orf26|C6orf26 MISSENSE|UTR|TSS-UPSTREAM SNP dbsnp.134:rs146419845 Somatic PFAM:PF05190:MutS_IV 15 0.625 SQHIGH 19 25 44 0 43 43 Cosmic_Gene G G A G G TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 4439|100532732|401251 6 31726618 31726618 67 AML relapse snv ZNF804B missense E560D NM_181646 20-PAEERJ ZNF804B MISSENSE SNP Somatic 19 0.958 SQHIGH 20 18 38 0 38 38 Cosmic_Gene G G T G G TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 219578 7 88963976 88963976 75 AML relapse snv CRYGN silent H66H NM_144727 20-PAEERJ MIR3907|CRYGN TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF00030:Crystall 5 0.213 SQHIGH 5 12 17 0 20 20 G G A G G TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 100500835|155051 7 151135154 151135154 18 AML relapse snv TBC1D2 silent S768S NM_018421 20-PAEERJ TBC1D2 SYNONYMOUS SNP Somatic PFAM:PF00566:TBC 6 0.235 SQHIGH 14 13 27 0 28 28 Cosmic_Gene C C T C C TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 55357 9 100963914 100963914 53 AML relapse snv DNAH10 missense R1993W NM_207437 20-PAEERJ DNAH10 MISSENSE SNP Somatic PFAM:PF12774:AAA_6 13 0.493 SQHIGH 14 17 31 0 36 36 Cosmic_Gene C C T C C TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 196385 12 124337792 124337792 56 AML relapse snv STARD9 missense G4046S NM_020759 20-PAEERJ STARD9 MISSENSE SNP Somatic 15 0.625 SQHIGH 21 20 41 0 34 34 G G A G G TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 57519 15 42985912 42985912 69 AML relapse snv ALDH1A2 missense L33P NM_003888 20-PAEERJ ALDH1A2 UTR5,MISSENSE SNP Somatic -4 0.093 SQHIGH 5 26 31 0 25 25 Cosmic_Gene A A G A A TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 8854 15 58357751 58357751 14 AML relapse snv HERC1 missense Q4061R NM_003922 20-PAEERJ HERC1 MISSENSE SNP Somatic PFAM:PF00415:RCC1 14 0.565 SQHIGH 12 13 25 0 25 25 Cosmic_Gene T T C T T TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 8925 15 63929754 63929754 44 AML relapse snv RAB26 missense R239W NM_014353 20-PAEERJ TRAF7|RAB26 TSS-UPSTREAM|MISSENSE SNP Somatic -10 0.056 SQHIGH 7 29 36 0 31 31 Cosmic_Gene C C T C C TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 84231|25837 16 2203366 2203366 20 AML diagnosis snv PAPPA2 silent T431T NM_020318 20-PAEERJ PAPPA2 SYNONYMOUS SNP Somatic PFAM:PF00354:Pentaxin 13 0.473 SQHIGH 26 16 42 0 46 46 Cosmic_Gene C C T C C TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 60676 1 176564033 176564033 109 AML diagnosis snv DNER missense T172M NM_139072 20-PAEERJ DNER MISSENSE SNP dbsnp.134:rs143332732 Somatic 5 0.197 SQHIGH 9 21 30 0 34 34 Cosmic_Gene G G A G G TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 92737 2 230456366 230456366 33 AML diagnosis snv KALRN silent A594A NM_001024660 20-PAEERJ KALRN SYNONYMOUS SNP Somatic 13 0.473 SQHIGH 18 26 44 0 42 42 Cosmic_Gene G G A G G TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 8997 3 124103709 124103709 62 AML diagnosis snv PCSK1 nonsense S111* NM_000439 20-PAEERJ PCSK1 NONSENSE SNP Somatic -8 0.059 SQHIGH 4 31 35 0 47 47 Cosmic_Gene G G T G G TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 5122 5 95761588 95761588 15 AML diagnosis snv MSH5 missense R448H NM_025259 20-PAEERJ MSH5|MSH5-C6orf26|C6orf26 MISSENSE|UTR|TSS-UPSTREAM SNP dbsnp.134:rs146419845 Somatic PFAM:PF05190:MutS_IV 11 0.372 SQHIGH 17 24 41 0 43 43 Cosmic_Gene G G A G G TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 4439|100532732|401251 6 31726618 31726618 62 AML diagnosis snv ZNF804B missense E560D NM_181646 20-PAEERJ ZNF804B MISSENSE SNP Somatic 16 0.685 SQHIGH 23 17 40 0 38 38 Cosmic_Gene G G T G G TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 219578 7 88963976 88963976 86 AML diagnosis snv CRYGN silent H66H NM_144727 20-PAEERJ MIR3907|CRYGN TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF00030:Crystall 13 0.473 SQHIGH 15 8 23 0 20 20 G G A G G TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 100500835|155051 7 151135154 151135154 55 AML diagnosis snv APAF1 missense G799V NM_013229 20-PAEERJ APAF1 INTRON,MISSENSE SNP Somatic -4 0.082 SQHIGH 6 20 26 0 15 15 Cosmic_Gene G G T G G TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 317 12 99093310 99093310 13 AML diagnosis snv STARD9 missense G4046S NM_020759 20-PAEERJ STARD9 MISSENSE SNP Somatic 20 1.000 SQHIGH 23 14 37 0 34 34 G G A G G TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 57519 15 42985912 42985912 86 AML diagnosis snv HERC1 missense Q4061R NM_003922 20-PAEERJ HERC1 MISSENSE SNP Somatic PFAM:PF00415:RCC1 14 0.543 SQHIGH 13 15 28 0 25 25 Cosmic_Gene T T C T T TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 8925 15 63929754 63929754 44 AML diagnosis snv MRPL46 missense R21W NM_022163 20-PAEERJ MRPS11|MRPL46 TSS-UPSTREAM|MISSENSE SNP Somatic 0 0.121 SQHIGH 6 25 31 0 23 23 Cosmic_Gene T T A T T TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 64963|26589 15 89010548 89010548 15 AML diagnosis mnv BAI2 missense M542S NM_001294335 20-PAEERJ BAI2 MISSENSE Sub Somatic PFAM:PF02793:HRM -3 0.446 SQHIGH 7 31 38 0 23 23 Cosmic_Gene CA CA AC CA CA TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 576 1 32207286 32207287 15 AML relapse snv KLHDC7A missense R486C NM_152375 20-PAEFGR KLHDC7A MISSENSE SNP Somatic -8 0.057 SQHIGH 6 15 21 0 14 14 Cosmic_Gene C C T C C TARGET-20-PAEFGR-04A-01D TARGET-20-PAEFGR-14A-01D 127707 1 18808931 18808931 15 AML relapse snv SATB1 missense R297P NM_002971 20-PAEFGR SATB1 MISSENSE SNP Somatic PFAM:PF09770:PAT1 -2 0.093 SQHIGH 8 36 44 0 51 51 Cosmic_Gene C C G C C TARGET-20-PAEFGR-04A-01D TARGET-20-PAEFGR-14A-01D 6304 3 18436270 18436270 28 AML relapse snv MTX3 missense L202P NM_001167741 20-PAEFGR MTX3 INTRON,MISSENSE SNP Somatic -10 0.048 SQHIGH 5 23 28 0 31 31 A A G A A TARGET-20-PAEFGR-04A-01D TARGET-20-PAEFGR-14A-01D 345778 5 79281434 79281434 17 AML relapse snv KCNB2 silent H235H NM_004770 20-PAEFGR KCNB2 SYNONYMOUS SNP Somatic -4 0.078 SQHIGH 8 48 56 0 35 35 Cosmic_Gene C C T C C TARGET-20-PAEFGR-04A-01D TARGET-20-PAEFGR-14A-01D 9312 8 73848295 73848295 18 AML relapse snv FEN1 missense E236G NM_004111 20-PAEFGR MIR611|C11orf10|FEN1 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE SNP Somatic -8 0.057 SQHIGH 7 29 36 0 27 27 Cosmic_Gene A A G A A TARGET-20-PAEFGR-04A-01D TARGET-20-PAEFGR-14A-01D 693196|746|2237 11 61563540 61563540 18 AML relapse snv NF1 splice_region L2602_E52splice_region NM_000267 20-PAEFGR NF1 DONOR SNP Somatic 11 0.350 SQHIGH 9 26 35 0 32 32 Cosmic_Gene G G A G G TARGET-20-PAEFGR-04A-01D TARGET-20-PAEFGR-14A-01D 4763 17 29684113 29684113 28 AML relapse snv IKZF3 missense E205G NM_012481 20-PAEFGR IKZF3 INTRON,MISSENSE SNP Somatic -4 0.078 SQHIGH 7 22 29 0 28 28 Cosmic_Gene T T C T T TARGET-20-PAEFGR-04A-01D TARGET-20-PAEFGR-14A-01D 22806 17 37944606 37944606 22 AML diagnosis snv KLHDC7A missense R486C NM_152375 20-PAEFGR KLHDC7A MISSENSE SNP Somatic -7 0.064 SQHIGH 11 14 25 0 14 14 Cosmic_Gene C C T C C TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 127707 1 18808931 18808931 26 AML diagnosis snv ERICH3 missense I244T NM_001002912 20-PAEFGR ERICH3 MISSENSE SNP Somatic -8 0.059 SQHIGH 4 17 21 0 25 25 Cosmic_Gene A A G A A TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 127254 1 75097485 75097485 14 AML diagnosis snv EDEM3 missense C714G NM_025191 20-PAEFGR EDEM3 MISSENSE SNP Somatic -10 0.050 SQHIGH 7 42 49 0 20 20 Cosmic_Gene A A C A A TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 80267 1 184675840 184675840 11 AML diagnosis snv EDEM3 missense Q713K NM_025191 20-PAEFGR EDEM3 MISSENSE SNP Somatic -9 0.054 SQHIGH 7 37 44 0 21 21 Cosmic_Gene G G T G G TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 80267 1 184675843 184675843 13 AML diagnosis snv KCNB2 silent H235H NM_004770 20-PAEFGR KCNB2 SYNONYMOUS SNP Somatic -7 0.064 SQHIGH 6 31 37 0 35 35 Cosmic_Gene C C T C C TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 9312 8 73848295 73848295 18 AML diagnosis snv CREBL2 missense E95K NM_001310 20-PAEFGR CREBL2 MISSENSE SNP Somatic -8 0.059 SQHIGH 7 16 23 0 17 17 G G A G G TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 1389 12 12790573 12790573 19 AML diagnosis snv CSPG4 missense F2012S NM_001897 20-PAEFGR CSPG4 MISSENSE SNP Somatic -8 0.059 SQHIGH 4 33 37 0 41 41 Cosmic_Gene A A G A A TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 1464 15 75968825 75968825 13 AML diagnosis mnv CNNM1 missense D574V NM_020348 20-PAEFGR CNNM1 MISSENSE Sub Somatic -9 0.314 SQHIGH 11 46 57 0 31 31 AC AC TG AC AC TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 26507 10 101120595 101120596 22 AML relapse snv MOV10 splice_region K491_E10splice_region NM_020963 20-PAEFGT MOV10 ACCEPTOR SNP Somatic -5 0.066 SQHIGH 8 33 41 0 44 44 Cosmic_Gene C C T C C TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 4343 1 113237362 113237362 27 AML relapse snv SLC9A4 missense D681E NM_001011552 20-PAEFGT SLC9A4 MISSENSE SNP Somatic -1 0.093 SQHIGH 5 24 29 0 40 40 Cosmic_Gene T T G T T TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 389015 2 103148793 103148793 20 AML relapse snv RGS7BP missense R123Q NM_001029875 20-PAEFGT RGS7BP MISSENSE SNP Somatic 15 0.559 SQHIGH 17 16 33 0 30 30 G G A G G TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 401190 5 63871636 63871636 59 AML relapse snv DPP6 missense R663C NM_130797 20-PAEFGT DPP6 MISSENSE SNP Somatic PFAM:PF06342:DUF1057 10 0.283 SQHIGH 21 25 46 2 55 57 Cosmic_Gene C C T C C TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 1804 7 154667719 154667719 67 AML relapse snv MYC missense P75H NM_002467 20-PAEFGT MYC MISSENSE SNP Somatic PFAM:PF01056:Myc_N 12 0.362 SQHIGH 10 6 16 0 29 29 Cosmic_Gene C C A C C TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 4609 8 128750687 128750687 56 AML relapse snv KIF12 missense M200L NM_138424 20-PAEFGT KIF12 MISSENSE SNP Somatic 13 0.415 SQHIGH 29 24 53 0 53 53 T T A T T TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 113220 9 116857496 116857496 111 AML relapse snv DIP2C missense V920I NM_014974 20-PAEFGT DIP2C MISSENSE SNP Somatic 5 0.163 SQHIGH 28 22 50 1 42 43 Cosmic_Gene C C T C C TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 22982 10 408466 408466 84 AML relapse snv STX5 splice S181_E7splice NM_003164 20-PAEFGT STX5 DISRUPT SNP Somatic -8 0.052 SQHIGH 6 50 56 0 49 49 Cosmic_Gene T T G T T TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 6811 11 62592813 62592813 17 AML relapse snv DMD missense K2279E NM_004010 20-PAEFGT DMD UTR5,MISSENSE SNP Somatic 10 0.283 SQHIGH 25 24 49 0 51 51 Cosmic_Gene T T C T T TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 1756 X 31838197 31838197 96 AML relapse complex FLT3 splice_region G613_E14splice_region NM_004119 20-PAEFGT FLT3 INTRON Sub Somatic -8 0.282 SQHIGH 9 47 56 0 62 62 Cosmic_Gene CC CC CAT CC CC TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 2322 13 28608209 28608210 31 AML relapse complex FLT3 splice G613_E14splice NM_004119 20-PAEFGT FLT3 DISRUPT Sub Somatic -4 0.370 SQHIGH 18 51 69 0 61 61 Cosmic_Gene TTA TTA TCTG TTA TTA TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 2322 13 28608215 28608217 55 AML diagnosis snv RGS7BP missense R123Q NM_001029875 20-PAEFGT RGS7BP MISSENSE SNP Somatic 15 0.568 SQHIGH 15 14 29 0 30 30 G G A G G TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 401190 5 63871636 63871636 57 AML diagnosis snv DPP6 missense R663C NM_130797 20-PAEFGT DPP6 MISSENSE SNP Somatic PFAM:PF06342:DUF1057 10 0.287 SQHIGH 20 19 39 2 55 57 Cosmic_Gene C C T C C TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 1804 7 154667719 154667719 74 AML diagnosis snv MYC missense P75H NM_002467 20-PAEFGT MYC MISSENSE SNP Somatic PFAM:PF01056:Myc_N 14 0.493 SQHIGH 12 8 20 0 29 29 Cosmic_Gene C C A C C TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 4609 8 128750687 128750687 59 AML diagnosis snv KIF12 missense M200L NM_138424 20-PAEFGT KIF12 MISSENSE SNP Somatic 13 0.421 SQHIGH 29 34 63 0 53 53 T T A T T TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 113220 9 116857496 116857496 94 AML diagnosis snv DIP2C missense V920I NM_014974 20-PAEFGT DIP2C MISSENSE SNP Somatic 4 0.151 SQHIGH 32 18 50 1 42 43 Cosmic_Gene C C T C C TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 22982 10 408466 408466 103 AML diagnosis snv SPG7 splice_region P206_E4splice_region NM_003119 20-PAEFGT SPG7 DONOR SNP Somatic -5 0.067 SQHIGH 10 26 36 1 35 36 A A G A A TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 6687 16 89590659 89590659 25 AML relapse snv NRAS missense G13D NM_002524 20-PAEIKD NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 5 0.176 SQHIGH 6 23 29 0 39 39 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 4893 1 115258744 115258744 24 AML relapse snv IQCA1 missense L392I NM_024726 20-PAEIKD IQCA1 MISSENSE SNP Somatic 7 0.216 SQHIGH 15 34 49 0 50 50 Cosmic_Gene G G T G G TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 79781 2 237308092 237308092 51 AML relapse snv EFHB splice_region L285_E3splice_region NM_144715 20-PAEIKD EFHB ACCEPTOR SNP Somatic 16 0.702 SQHIGH 14 21 35 0 43 43 C C T C C TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 151651 3 19961472 19961472 56 AML relapse snv ADAMTS12 missense V1022I NM_030955 20-PAEIKD ADAMTS12 MISSENSE SNP Somatic 14 0.523 SQHIGH 18 26 44 1 56 57 Cosmic_Gene C C T C C TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 81792 5 33577067 33577067 64 AML relapse snv CDC25C splice_region N153_E6splice_region NM_001790 20-PAEIKD CDC25C INTRON,DONOR SNP Somatic -8 0.053 SQHIGH 7 38 45 1 51 52 Cosmic_Gene T T C T T TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 995 5 137661500 137661500 17 AML relapse snv LOC101928445 EXON E12_exon NM_025158 20-PAEIKD RUFY1 INTRON SNP Somatic -9 0.048 SQHIGH 5 25 30 0 41 41 Cosmic_Gene T T A T T TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 80230 5 179023480 179023480 20 AML relapse snv NFIL3 missense R91C NM_005384 20-PAEIKD NFIL3 MISSENSE SNP Somatic PFAM:PF00170:bZIP_1 12 0.391 SQHIGH 17 29 46 0 43 43 G G A G G TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 4783 9 94172746 94172746 56 AML relapse snv XYLT2 missense L684P NM_022167 20-PAEIKD XYLT2 MISSENSE SNP Somatic PFAM:PF12529:Xylo_C -4 0.073 SQHIGH 10 32 42 1 33 34 Cosmic_Gene T T C T T TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 64132 17 48435677 48435677 20 AML relapse snv HELZ missense S1206L NM_014877 20-PAEIKD HELZ MISSENSE SNP Somatic -40 0.000 3 19 22 0 38 38 Cosmic_Gene G G A G G TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 9931 17 65119099 65119099 13 AML relapse snv TIMM50 missense R77P NM_001001563 20-PAEIKD TIMM50 MISSENSE SNP Somatic -10 0.045 SQHIGH 6 38 45 0 34 34 Cosmic_Gene G G C G G TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 92609 19 39971414 39971414 16 AML relapse snv SPECC1L-ADORA2A EXON E17_exon NM_015330 20-PAEIKD SPECC1L UTR3 SNP Somatic 14 0.523 SQHIGH 16 22 38 1 38 39 Cosmic_Gene G G A G G TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 23384 22 24810639 24810639 47 AML relapse mnv CNNM1 missense D574V NM_020348 20-PAEIKD CNNM1 MISSENSE Sub Somatic -6 0.324 SQHIGH 10 37 47 0 43 43 AC AC TG AC AC TARGET-20-PAEIKD-04A-01D TARGET-20-PAEIKD-14A-01D 26507 10 101120595 101120596 30 AML diagnosis snv SPEG nonsense R235* NM_005876 20-PAEIKD SPEG NONSENSE SNP Somatic -7 0.057 SQHIGH 8 34 42 0 38 38 Cosmic_Gene C C T C C TARGET-20-PAEIKD-09A-01D TARGET-20-PAEIKD-14A-01D 10290 2 220309771 220309771 24 AML diagnosis snv SPECC1L-ADORA2A EXON E17_exon NM_015330 20-PAEIKD SPECC1L UTR3 SNP Somatic 10 0.303 SQHIGH 15 27 42 1 38 39 Cosmic_Gene G G A G G TARGET-20-PAEIKD-09A-01D TARGET-20-PAEIKD-14A-01D 23384 22 24810639 24810639 39 AML relapse snv PANK4 missense E587G NM_018216 20-PAKERZ PANK4 MISSENSE SNP Somatic 5 0.169 SQHIGH 9 39 48 0 48 48 Cosmic_Gene T T C T T TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 55229 1 2443090 2443090 29 AML relapse snv SH3BP4 splice_region E889_E5splice_region NM_014521 20-PAKERZ SH3BP4 INTRON SNP Somatic -5 0.066 SQHIGH 7 36 43 0 40 40 Cosmic_Gene G G A G G TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 23677 2 235961402 235961402 21 AML relapse snv GRM7 missense G471R NM_000844 20-PAKERZ GRM7 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor -10 0.044 SQHIGH 4 23 27 0 29 29 Cosmic_Gene G G A G G TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 2917 3 7503305 7503305 13 AML relapse snv DKK2 missense R230C NM_014421 20-PAKERZ DKK2 MISSENSE SNP Somatic -34 0.002 6 13 19 1 26 27 Cosmic_Gene G G A G G TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 27123 4 107845203 107845203 18 AML relapse snv SBF2-AS1 EXON E30_exon NM_030962 20-PAKERZ SBF2|LOC283104 INTRON|UTR SNP Somatic -5 0.066 SQHIGH 7 12 19 0 23 23 Cosmic_Gene T T A T T TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 81846|283104 11 9832006 9832006 27 AML relapse snv OR4C15 missense R357K NM_001001920 20-PAKERZ OR4C15 MISSENSE SNP Somatic 7 0.212 SQHIGH 23 43 66 0 42 42 Cosmic_Gene G G A G G TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 81309 11 55322852 55322852 57 AML relapse snv TENM4 missense R2427C NM_001098816 20-PAKERZ TENM4 MISSENSE SNP Somatic 9 0.262 SQHIGH 9 17 26 0 25 25 Cosmic_Gene G G A G G TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 26011 11 78380111 78380111 30 AML relapse snv ITPR2 missense N2391D NM_002223 20-PAKERZ ITPR2 MISSENSE SNP Somatic 1 0.115 SQHIGH 9 34 43 0 20 20 Cosmic_Gene T T C T T TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 3709 12 26568371 26568371 16 AML relapse snv TEP1 missense R386W NM_007110 20-PAKERZ TEP1 MISSENSE SNP Somatic PFAM:PF05731:TROVE -1 0.095 SQHIGH 9 37 46 0 39 39 Cosmic_Gene G G A G G TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 7011 14 20871920 20871920 26 AML relapse snv RUNDC1 missense D230N NM_173079 20-PAKERZ RUNDC1 MISSENSE SNP Somatic 7 0.212 SQHIGH 10 35 45 1 49 50 G G A G G TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 146923 17 41141388 41141388 27 AML relapse snv GATA1 missense P73L NM_002049 20-PAKERZ GATA1 MISSENSE SNP Somatic 2 0.127 SQHIGH 8 25 33 0 44 44 Cosmic_Gene C C T C C TARGET-20-PAKERZ-04A-01D TARGET-20-PAKERZ-14A-01D 2623 X 48649734 48649734 32 AML diagnosis snv SH3BP4 splice_region E889_E5splice_region NM_014521 20-PAKERZ SH3BP4 INTRON SNP Somatic 17 0.780 SQHIGH 26 23 49 0 40 40 Cosmic_Gene G G A G G TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 23677 2 235961402 235961402 85 AML diagnosis snv EGFR missense R669Q NM_005228 20-PAKERZ EGFR MISSENSE SNP Somatic -10 0.046 SQHIGH 4 28 32 0 34 34 Cosmic_Gene G G A G G TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 1956 7 55240762 55240762 13 AML diagnosis snv FBXO24 missense E325G NM_033506 20-PAKERZ FBXO24|LOC100129845 MISSENSE|INTRON SNP Somatic -9 0.050 SQHIGH 7 31 38 0 40 40 Cosmic_Gene A A G A A TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 26261|100129845 7 100192746 100192746 23 AML diagnosis snv ASTN2 missense E311K NM_014010 20-PAKERZ ASTN2 MISSENSE SNP Somatic -4 0.074 SQHIGH 7 31 38 0 37 37 Cosmic_Gene C C T C C TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 23245 9 119976721 119976721 22 AML diagnosis snv OR4C15 missense R357K NM_001001920 20-PAKERZ OR4C15 MISSENSE SNP Somatic 5 0.173 SQHIGH 33 55 88 0 42 42 Cosmic_Gene G G A G G TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 81309 11 55322852 55322852 67 AML diagnosis snv TENM4 missense R2427C NM_001098816 20-PAKERZ TENM4 MISSENSE SNP Somatic 10 0.301 SQHIGH 19 17 36 0 25 25 Cosmic_Gene G G A G G TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 26011 11 78380111 78380111 55 AML diagnosis snv RUNDC1 missense D230N NM_173079 20-PAKERZ RUNDC1 MISSENSE SNP Somatic 12 0.382 SQHIGH 21 24 45 1 49 50 G G A G G TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 146923 17 41141388 41141388 70 AML diagnosis snv GATA1 missense P73L NM_002049 20-PAKERZ GATA1 MISSENSE SNP Somatic 11 0.336 SQHIGH 14 24 38 0 44 44 Cosmic_Gene C C T C C TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 2623 X 48649734 48649734 54 AML relapse snv CLASP1 missense S684I NM_015282 20-PAKIWK CLASP1 MISSENSE SNP Somatic 1 0.140 SQHIGH 12 12 24 1 27 28 Cosmic_Gene C C A C C TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 23332 2 122182876 122182876 39 AML relapse snv SF3B1 missense A672T NM_012433 20-PAKIWK SF3B1 MISSENSE SNP Somatic 15 0.626 SQHIGH 13 24 37 0 27 27 Cosmic_Gene C C T C C TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 23451 2 198267343 198267343 36 AML relapse snv KCNK17 silent S187S NM_031460 20-PAKIWK KCNK17 SYNONYMOUS SNP Somatic -3 0.095 SQHIGH 8 20 28 1 26 27 Cosmic_Gene C C A C C TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 89822 6 39271860 39271860 18 AML relapse snv MAD1L1 missense T432M NM_003550 20-PAKIWK MAD1L1 MISSENSE SNP Somatic PFAM:PF05557:MAD 1 0.140 SQHIGH 10 27 37 1 27 28 Cosmic_Gene G G A G G TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 8379 7 2054201 2054201 19 AML relapse snv IKZF1 missense R162Q NM_006060 20-PAKIWK IKZF1 INTRON,TSS-UPSTREAM,MISSENSE SNP Somatic 4 0.189 SQHIGH 15 19 34 2 40 42 Cosmic_Gene G G A G G TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 10320 7 50450301 50450301 44 AML relapse snv TEX15 nonsense S1551* NM_031271 20-PAKIWK TEX15 NONSENSE SNP Somatic -31 0.005 4 27 31 0 36 36 Cosmic_Gene G G T G G TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 56154 8 30701882 30701882 14 AML relapse snv TONSL missense R849P NM_013432 20-PAKIWK TONSL MISSENSE SNP Somatic -36 0.002 5 15 20 0 20 20 Cosmic_Gene C C G C C TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 4796 8 145661270 145661270 16 AML relapse snv FAM160A2 missense E195K NM_032127 20-PAKIWK FAM160A2 MISSENSE SNP Somatic PFAM:PF10257:RAI16-like 5 0.206 SQHIGH 17 13 30 1 27 28 Cosmic_Gene C C T C C TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 84067 11 6245034 6245034 51 AML relapse snv PTPN11 missense E76K NM_002834 20-PAKIWK PTPN11 MISSENSE SNP dbsnp.133:rs121918464 Somatic 6 0.229 SQHIGH 13 19 32 2 40 42 COSMIC:mut:13000 Cosmic_Gene G G A G G TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 5781 12 112888210 112888210 38 AML relapse snv ETFA silent A34A NM_000126 20-PAKIWK ETFA SYNONYMOUS,INTRON SNP Somatic -1 0.115 SQHIGH 5 13 18 0 21 21 T T C T T TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 2108 15 76588016 76588016 18 AML relapse snv SEC14L5 missense T502M NM_014692 20-PAKIWK SEC14L5 MISSENSE SNP Somatic -3 0.095 SQHIGH 10 17 27 1 21 22 C C T C C TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 9717 16 5057420 5057420 22 AML relapse snv NOSIP silent S135S NM_015953 20-PAKIWK NOSIP SYNONYMOUS SNP Somatic -5 0.079 SQHIGH 6 11 17 0 15 15 Cosmic_Gene C C T C C TARGET-20-PAKIWK-04A-01D TARGET-20-PAKIWK-14A-02D 51070 19 50060360 50060360 19 AML diagnosis snv SF3B1 missense A672T NM_012433 20-PAKIWK SF3B1 MISSENSE SNP Somatic 12 0.433 SQHIGH 16 25 41 0 27 27 Cosmic_Gene C C T C C TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 23451 2 198267343 198267343 42 AML diagnosis snv PCDHB3 missense T173I NM_018937 20-PAKIWK PCDHB3 MISSENSE SNP Somatic -1 0.114 SQHIGH 4 27 31 0 46 46 Cosmic_Gene C C T C C TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 56132 5 140480751 140480751 16 AML diagnosis snv MAD1L1 missense T432M NM_003550 20-PAKIWK MAD1L1 MISSENSE SNP Somatic PFAM:PF05557:MAD 2 0.154 SQHIGH 14 19 33 1 27 28 Cosmic_Gene G G A G G TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 8379 7 2054201 2054201 35 AML diagnosis snv KCNQ1OT1 EXON E11_exon NM_000218 20-PAKIWK KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic -6 0.073 SQHIGH 4 27 31 0 38 38 Cosmic_Gene T T C T T TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 3784|10984 11 2692328 2692328 14 AML diagnosis snv FAM160A2 missense E195K NM_032127 20-PAKIWK FAM160A2 MISSENSE SNP Somatic PFAM:PF10257:RAI16-like 5 0.205 SQHIGH 13 18 31 1 27 28 Cosmic_Gene C C T C C TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 84067 11 6245034 6245034 33 AML diagnosis snv BCL9L silent G74G NM_182557 20-PAKIWK BCL9L|MIR4492 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -7 0.066 SQHIGH 8 37 45 1 47 48 Cosmic_Gene G G C G G TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 283149|100616376 11 118779169 118779169 19 AML diagnosis snv PTPN11 missense E76K NM_002834 20-PAKIWK PTPN11 MISSENSE SNP dbsnp.133:rs121918464 Somatic 6 0.227 SQHIGH 12 14 26 2 40 42 COSMIC:mut:13000 Cosmic_Gene G G A G G TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 5781 12 112888210 112888210 41 AML diagnosis snv PSMB5 missense V6M NM_002797 20-PAKIWK PSMB5 INTRON,MISSENSE SNP Somatic 6 0.227 SQHIGH 7 17 24 1 23 24 Cosmic_Gene C C T C C TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 5693 14 23504075 23504075 16 AML diagnosis snv ETFA silent A34A NM_000126 20-PAKIWK ETFA SYNONYMOUS,INTRON SNP Somatic 8 0.279 SQHIGH 9 13 22 0 21 21 T T C T T TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 2108 15 76588016 76588016 31 AML diagnosis snv NOSIP silent S135S NM_015953 20-PAKIWK NOSIP SYNONYMOUS SNP Somatic -4 0.087 SQHIGH 7 11 18 0 15 15 Cosmic_Gene C C T C C TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 51070 19 50060360 50060360 21 AML diagnosis snv NCOA6 missense S1349P NM_014071 20-PAKIWK NCOA6 INTRON,MISSENSE SNP Somatic -30 0.006 7 39 46 0 37 37 Cosmic_Gene A A G A A TARGET-20-PAKIWK-09A-01D TARGET-20-PAKIWK-14A-02D 23054 20 33330015 33330015 19 AML diagnosis snv KPNA4 missense A152E NM_002268 20-PAKIYW KPNA4 MISSENSE SNP Somatic -7 0.080 SQHIGH 3 10 13 0 25 25 G G T G G TARGET-20-PAKIYW-09A-01D TARGET-20-PAKIYW-14A-01D 3840 3 160248657 160248657 15 AML diagnosis snv SCARNA12 EXON E6_exon NM_001144831 20-PAKIYW PHB2|EMG1|SCARNA12 INTRON|TSS-UPSTREAM|UTR SNP Somatic -4 0.107 SQHIGH 7 18 25 0 15 15 Cosmic_Gene C C T C C TARGET-20-PAKIYW-09A-01D TARGET-20-PAKIYW-14A-01D 11331|10436|677777 12 7076554 7076554 16 AML diagnosis snv TRPM1 missense V976M NM_002420 20-PAKIYW TRPM1 MISSENSE SNP Somatic 0 0.164 SQHIGH 21 26 47 2 48 50 Cosmic_Gene C C T C C TARGET-20-PAKIYW-09A-01D TARGET-20-PAKIYW-14A-01D 4308 15 31323321 31323321 Somatic Illumina 58 18530 13313 31847 30015 1495 31513 AML diagnosis snv ARHGAP4 splice R91_E2splice NM_001164741 20-PAKIYW ARHGAP4 MISSENSE SNP Somatic PFAM:PF03114:BAR 4 0.242 SQHIGH 12 27 39 0 32 32 Cosmic_Gene C C T C C TARGET-20-PAKIYW-09A-01D TARGET-20-PAKIYW-14A-01D 393 X 153187058 153187058 Somatic Illumina 35 31566 16524 48096 49355 32 49392 AML diagnosis snv DOCK4 missense D789H NM_014705 20-PAKLPD DOCK4 MISSENSE SNP Somatic -10 0.047 SQHIGH 5 27 32 0 30 30 Cosmic_Gene C C G C C TARGET-20-PAKLPD-09A-03D TARGET-20-PAKLPD-14A-02D 9732 7 111503536 111503536 15 AML diagnosis snv SLC30A8 missense E5Q NM_173851 20-PAKLPD SLC30A8 INTRON,UTR5,MISSENSE SNP Somatic 17 0.785 SQHIGH 11 13 24 0 40 40 Cosmic_Gene G G C G G TARGET-20-PAKLPD-09A-03D TARGET-20-PAKLPD-14A-02D 169026 8 118147579 118147579 55 AML relapse snv TP73 silent A112A NM_005427 20-PAKRZG TP73 SYNONYMOUS SNP Somatic -1 0.116 SQHIGH 16 17 33 1 26 27 Cosmic_Gene G G T G G TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 7161 1 3624262 3624262 41 AML relapse snv CLCNKA splice_region G120_E4splice_region NM_004070 20-PAKRZG CLCNKA INTRON SNP Somatic 13 0.486 SQHIGH 21 25 46 0 56 56 Cosmic_Gene C C T C C TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 1187 1 16351396 16351396 87 AML relapse snv ZFYVE16 splice_region V1488_E18splice_region NM_014733 20-PAKRZG ZFYVE16 ACCEPTOR SNP Somatic -10 0.050 SQHIGH 3 7 10 0 21 21 T T G T T TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 9765 5 79773029 79773029 16 AML relapse snv SLC25A48 missense T83M NM_145282 20-PAKRZG SLC25A48 MISSENSE SNP Somatic PFAM:PF00153:Mito_carr 15 0.625 SQHIGH 15 19 34 0 55 55 Cosmic_Gene C C T C C TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 153328 5 135188337 135188337 73 AML relapse snv OR2H1 silent G106G NM_030883 20-PAKRZG OR2H1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 1 0.142 SQHIGH 10 23 33 1 28 29 G G T G G TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 26716 6 29429864 29429864 22 AML relapse snv ZNF451 missense K777R NM_001031623 20-PAKRZG ZNF451 MISSENSE SNP Somatic 9 0.309 SQHIGH 17 21 38 0 46 46 Cosmic_Gene A A G A A TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 26036 6 57013213 57013213 69 AML relapse snv LOC100507346 EXON E13_exon NM_000264 20-PAKRZG PTCH1|LOC100507346 INTRON|UTR SNP Somatic 19 0.937 SQHIGH 14 17 31 1 53 54 Cosmic_Gene C C T C C TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 5727|100507346 9 98232073 98232073 61 AML relapse snv GATA3 missense G289R NM_001002295 20-PAKRZG GATA3 MISSENSE SNP Somatic 11 0.383 SQHIGH 12 22 34 0 39 39 Cosmic_Gene G G A G G TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 2625 10 8106042 8106042 45 AML relapse snv RTN1 silent G574G NM_021136 20-PAKRZG RTN1 SYNONYMOUS SNP Somatic -2 0.103 SQHIGH 5 27 32 0 30 30 Cosmic_Gene A A G A A TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 6252 14 60193680 60193680 15 AML relapse snv IGF2BP1 missense R93Q NM_006546 20-PAKRZG IGF2BP1 MISSENSE SNP Somatic 13 0.486 SQHIGH 11 23 34 0 44 44 Cosmic_Gene G G A G G TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 10642 17 47103021 47103021 44 AML relapse mnv HK2 missense L531_D532>FG NM_000189 20-PAKRZG HK2 MISSENSE Sub Somatic PFAM:PF00349:Hexokinase_1 -5 0.412 SQHIGH 7 20 27 2 44 46 Cosmic_Gene GGA GGA TGG GGA GGA TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 3099 2 75108860 75108862 20 AML diagnosis snv TP73 silent A112A NM_005427 20-PAKRZG TP73 SYNONYMOUS SNP Somatic -1 0.135 SQHIGH 13 16 29 1 26 27 Cosmic_Gene G G T G G TARGET-20-PAKRZG-09A-01D TARGET-20-PAKRZG-14A-01D 7161 1 3624262 3624262 35 AML diagnosis snv CLCNKA splice_region G120_E4splice_region NM_004070 20-PAKRZG CLCNKA INTRON SNP Somatic 10 0.429 SQHIGH 30 36 66 0 56 56 Cosmic_Gene C C T C C TARGET-20-PAKRZG-09A-01D TARGET-20-PAKRZG-14A-01D 1187 1 16351396 16351396 97 AML diagnosis snv SLC25A48 missense T83M NM_145282 20-PAKRZG SLC25A48 MISSENSE SNP Somatic PFAM:PF00153:Mito_carr 15 0.733 SQHIGH 17 17 34 0 55 55 Cosmic_Gene C C T C C TARGET-20-PAKRZG-09A-01D TARGET-20-PAKRZG-14A-01D 153328 5 135188337 135188337 85 AML diagnosis snv ZNF451 missense K777R NM_001031623 20-PAKRZG ZNF451 MISSENSE SNP Somatic 8 0.348 SQHIGH 18 28 46 0 46 46 Cosmic_Gene A A G A A TARGET-20-PAKRZG-09A-01D TARGET-20-PAKRZG-14A-01D 26036 6 57013213 57013213 63 AML diagnosis snv LOC100507346 EXON E13_exon NM_000264 20-PAKRZG PTCH1|LOC100507346 INTRON|UTR SNP Somatic 6 0.280 SQHIGH 18 33 51 1 53 54 Cosmic_Gene C C T C C TARGET-20-PAKRZG-09A-01D TARGET-20-PAKRZG-14A-01D 5727|100507346 9 98232073 98232073 54 AML diagnosis snv GATA3 missense G289R NM_001002295 20-PAKRZG GATA3 MISSENSE SNP Somatic 9 0.386 SQHIGH 14 21 35 0 39 39 Cosmic_Gene G G A G G TARGET-20-PAKRZG-09A-01D TARGET-20-PAKRZG-14A-01D 2625 10 8106042 8106042 53 AML diagnosis snv IGF2BP1 missense R93Q NM_006546 20-PAKRZG IGF2BP1 MISSENSE SNP Somatic -8 0.068 SQHIGH 8 36 44 0 44 44 Cosmic_Gene G G A G G TARGET-20-PAKRZG-09A-01D TARGET-20-PAKRZG-14A-01D 10642 17 47103021 47103021 26 AML diagnosis snv MYO18B missense Q1751R NM_032608 20-PAKRZG MYO18B MISSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 -10 0.057 SQHIGH 4 35 39 0 44 44 Cosmic_Gene A A G A A TARGET-20-PAKRZG-09A-01D TARGET-20-PAKRZG-14A-01D 84700 22 26304392 26304392 13 AML diagnosis snv ADCY5 missense G525R NM_183357 20-PAKSMZ ADCY5 MISSENSE SNP Somatic -4 0.070 SQHIGH 9 19 28 0 25 25 Cosmic_Gene C C T C C TARGET-20-PAKSMZ-03A-01D TARGET-20-PAKSMZ-10A-01D 111 3 123049809 123049809 28 AML diagnosis snv WAPAL missense S202T NM_015045 20-PAKSMZ WAPAL MISSENSE SNP Somatic 0 0.104 SQHIGH 7 26 33 0 44 44 Cosmic_Gene A A T A A TARGET-20-PAKSMZ-03A-01D TARGET-20-PAKSMZ-10A-01D 23063 10 88260396 88260396 28 AML diagnosis snv FRY splice_region E493_E14splice_region NM_023037 20-PAKSMZ FRY DONOR SNP Somatic 9 0.277 SQHIGH 21 15 36 1 42 43 Cosmic_Gene A A G A A TARGET-20-PAKSMZ-03A-01D TARGET-20-PAKSMZ-10A-01D 10129 13 32723974 32723974 79 AML diagnosis snv RTN1 missense K741T NM_021136 20-PAKSMZ RTN1 MISSENSE SNP Somatic PFAM:PF02453:Reticulon 6 0.196 SQHIGH 6 11 17 0 31 31 Cosmic_Gene T T G T T TARGET-20-PAKSMZ-03A-01D TARGET-20-PAKSMZ-10A-01D 6252 14 60069937 60069937 30 AML diagnosis snv DSG4 missense D799N NM_001134453 20-PAKSMZ DSG4 MISSENSE SNP Somatic 9 0.277 SQHIGH 20 28 48 1 40 41 Cosmic_Gene G G A G G TARGET-20-PAKSMZ-03A-01D TARGET-20-PAKSMZ-10A-01D 147409 18 28991394 28991394 53 AML diagnosis snv SALL4 silent P803P NM_020436 20-PAKSMZ SALL4 SYNONYMOUS SNP Somatic 6 0.196 SQHIGH 21 24 45 0 43 43 Cosmic_Gene G G A G G TARGET-20-PAKSMZ-03A-01D TARGET-20-PAKSMZ-10A-01D 57167 20 50406613 50406613 74 AML diagnosis snv DDX53 missense T273I NM_182699 20-PAKSMZ DDX53 MISSENSE SNP Somatic 19 0.945 SQHIGH 22 1 23 0 27 27 Cosmic_Gene C T C TARGET-20-PAKSMZ-03A-01D TARGET-20-PAKSMZ-10A-01D 168400 X 23018992 23018992 126 AML relapse snv HIPK1 silent L758L NM_198268 20-PAKTCX HIPK1 SYNONYMOUS SNP Somatic 0 0.118 SQHIGH 6 26 32 0 29 29 Cosmic_Gene G G T G G TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 204851 1 114508787 114508787 18 AML relapse snv NRAS missense G13V NM_002524 20-PAKTCX NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic -29 0.006 4 41 45 0 26 26 COSMIC:mut:574 Cosmic_Gene C C A C C TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 4893 1 115258744 115258744 8 AML relapse snv C2orf69 missense S304F NM_153689 20-PAKTCX C2orf69 MISSENSE SNP Somatic PFAM:PF10561:UPF0565 -5 0.073 SQHIGH 5 33 38 0 50 50 Cosmic_Gene C C T C C TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 205327 2 200790362 200790362 19 AML relapse snv SPZ1 missense A230T NM_032567 20-PAKTCX SPZ1 MISSENSE SNP Somatic -9 0.053 SQHIGH 11 54 65 1 46 47 Cosmic_Gene G G A G G TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 84654 5 79616722 79616722 20 AML relapse snv NFYA missense Q157L NM_002505 20-PAKTCX NFYA MISSENSE SNP Somatic -8 0.058 SQHIGH 3 2 5 0 8 8 A A T A A TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 4800 6 41057971 41057971 15 AML relapse snv LMBR1 silent R370R NM_022458 20-PAKTCX LMBR1 SYNONYMOUS SNP Somatic PFAM:PF04791:LMBR1 -6 0.068 SQHIGH 6 22 28 1 32 33 T T C T T TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 64327 7 156518177 156518177 15 AML relapse snv CFAP46 missense V1157M NM_001200049 20-PAKTCX CFAP46 MISSENSE SNP Somatic -7 0.063 SQHIGH 4 13 17 0 20 20 C C T C C TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 100506209 10 134698765 134698765 14 AML relapse snv PDE3B missense R1055Q NM_000922 20-PAKTCX PDE3B MISSENSE SNP dbsnp.134:rs140182781 Somatic 1 0.130 SQHIGH 5 11 16 0 25 25 G G A G G TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 5140 11 14891031 14891031 22 AML relapse snv ATP8B1 splice_region G233_E8splice_region NM_005603 20-PAKTCX ATP8B1 INTRON SNP Somatic 11 0.368 SQHIGH 5 11 16 1 24 25 Cosmic_Gene A A C A A TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 5205 18 55364842 55364842 16 AML relapse snv KLHL22 missense D51G NM_032775 20-PAKTCX KLHL22 MISSENSE,UTR SNP Somatic PFAM:PF00651:BTB -1 0.106 SQHIGH 9 34 43 1 34 35 Cosmic_Gene T T C T T TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 84861 22 20843347 20843347 18 AML relapse mnv MLH3 missense T1132_V1133>RF NM_001040108 20-PAKTCX MLH3 MISSENSE Sub Somatic -8 0.298 SQHIGH 10 39 49 3 59 62 Cosmic_Gene CAG CAG ATC CAG CAG TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 27030 14 75508386 75508388 19 AML diagnosis snv NRAS missense G12S NM_002524 20-PAKTCX NRAS MISSENSE SNP dbsnp.133:rs121913250 Somatic -25 0.010 5 29 34 0 27 27 COSMIC:mut:563 Cosmic_Gene C C T C C TARGET-20-PAKTCX-09A-01D TARGET-20-PAKTCX-14A-01D 4893 1 115258748 115258748 13 AML diagnosis snv C2orf69 missense S304F NM_153689 20-PAKTCX C2orf69 MISSENSE SNP Somatic PFAM:PF10561:UPF0565 10 0.322 SQHIGH 11 29 40 0 50 50 Cosmic_Gene C C T C C TARGET-20-PAKTCX-09A-01D TARGET-20-PAKTCX-14A-01D 205327 2 200790362 200790362 43 AML diagnosis snv WDR6 silent V449V NM_018031 20-PAKTCX WDR6 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 -3 0.084 SQHIGH 4 16 20 0 26 26 Cosmic_Gene T T C T T TARGET-20-PAKTCX-09A-01D TARGET-20-PAKTCX-14A-01D 11180 3 49050224 49050224 15 AML diagnosis snv SLC18B1 missense E83G NM_052831 20-PAKTCX SLC18B1 MISSENSE SNP Somatic PFAM:PF07690:MFS_1 -8 0.055 SQHIGH 8 24 32 1 25 26 Cosmic_Gene T T C T T TARGET-20-PAKTCX-09A-01D TARGET-20-PAKTCX-14A-01D 116843 6 133111347 133111347 15 AML diagnosis snv CFAP46 missense V1157M NM_001200049 20-PAKTCX CFAP46 MISSENSE SNP Somatic 0 0.115 SQHIGH 7 12 19 0 20 20 C C T C C TARGET-20-PAKTCX-09A-01D TARGET-20-PAKTCX-14A-01D 100506209 10 134698765 134698765 25 AML diagnosis snv PDE3B missense R1055Q NM_000922 20-PAKTCX PDE3B MISSENSE SNP dbsnp.134:rs140182781 Somatic 14 0.539 SQHIGH 12 18 30 0 25 25 G G A G G TARGET-20-PAKTCX-09A-01D TARGET-20-PAKTCX-14A-01D 5140 11 14891031 14891031 37 AML diagnosis snv SCAF4 splice_region S108_E5splice_region NM_020706 20-PAKTCX SCAF4 ACCEPTOR SNP Somatic 9 0.286 SQHIGH 8 23 31 1 39 40 G G A G G TARGET-20-PAKTCX-09A-01D TARGET-20-PAKTCX-14A-01D 57466 21 33074700 33074700 23 AML diagnosis snv EP300 splice R1292_E23splice NM_001429 20-PAKTCX EP300 DISRUPT SNP Somatic -1 0.103 SQHIGH 11 19 30 0 24 24 Cosmic_Gene T T A T T TARGET-20-PAKTCX-09A-01D TARGET-20-PAKTCX-14A-01D 2033 22 41562672 41562672 32 AML relapse snv AES missense L85P NM_198969 20-PAKVGI AES MISSENSE SNP Somatic PFAM:PF03920:TLE_N -10 0.046 SQHIGH 5 27 32 0 26 26 A A G A A TARGET-20-PAKVGI-04A-01D TARGET-20-PAKVGI-14A-01D 166 19 3061230 3061230 14 AML relapse snv TPM4 splice_region E258_E8splice_region NM_001145160 20-PAKVGI TPM4 DONOR SNP Somatic -10 0.046 SQHIGH 6 26 32 2 55 57 Cosmic_Gene A A G A A TARGET-20-PAKVGI-04A-01D TARGET-20-PAKVGI-14A-01D 7171 19 16204569 16204569 16 AML relapse snv NDP missense C96S NM_000266 20-PAKVGI NDP MISSENSE SNP Somatic PFAM:PF00007:Cys_knot -5 0.067 SQHIGH 3 4 7 0 17 17 C C G C C TARGET-20-PAKVGI-04A-01D TARGET-20-PAKVGI-14A-01D 4693 X 43809160 43809160 18 AML diagnosis snv PASK missense V869L NM_015148 20-PAKVGI PASK MISSENSE SNP Somatic 9 0.263 SQHIGH 6 17 23 1 26 27 Cosmic_Gene C C G C C TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 23178 2 242065725 242065725 15 AML diagnosis snv COL4A3BP nonsense Y612* NM_005713 20-PAKVGI COL4A3BP NONSENSE SNP Somatic -36 0.002 3 17 20 0 34 34 Cosmic_Gene G G T G G TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 10087 5 74675210 74675210 13 AML diagnosis snv MALRD1 missense G1932R NM_001142308 20-PAKVGI MALRD1 MISSENSE SNP Somatic 5 0.173 SQHIGH 15 46 61 0 44 44 G G A G G TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 340895 10 19884236 19884236 39 AML diagnosis snv AMBRA1 missense S1059R NM_017749 20-PAKVGI AMBRA1 MISSENSE SNP Somatic -10 0.047 SQHIGH 5 24 29 0 33 33 Cosmic_Gene G G C G G TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 55626 11 46419450 46419450 17 AML diagnosis snv SPTBN2 missense R2094G NM_006946 20-PAKVGI SPTBN2 MISSENSE SNP Somatic -7 0.060 SQHIGH 6 23 29 0 32 32 Cosmic_Gene G G C G G TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 6712 11 66455734 66455734 21 AML diagnosis snv MEIS2 missense P390A NM_001220482 20-PAKVGI MEIS2 UTR3,MISSENSE SNP Somatic 12 0.378 SQHIGH 7 31 38 0 27 27 Cosmic_Gene G G C G G TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 4212 15 37184619 37184619 17 AML diagnosis snv MEIS2 missense G388D NM_001220482 20-PAKVGI MEIS2 UTR3,MISSENSE SNP Somatic -6 0.064 SQHIGH 5 35 40 0 32 32 Cosmic_Gene C C T C C TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 4212 15 37184624 37184624 13 AML diagnosis snv COL1A1 splice_region E1015_E41splice_region NM_000088 20-PAKVGI COL1A1 DONOR SNP Somatic -10 0.047 SQHIGH 4 21 25 0 36 36 Cosmic_Gene T T C T T TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 1277 17 48266260 48266260 16 AML diagnosis snv FAM104A silent G41G NM_001098832 20-PAKVGI C17orf80|FAM104A TSS-UPSTREAM|SYNONYMOUS SNP Somatic -8 0.055 SQHIGH 8 19 27 1 35 36 Cosmic_Gene G G C G G TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 55028|84923 17 71228323 71228323 24 AML diagnosis snv TYK2 missense V678L NM_003331 20-PAKVGI TYK2 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 10 0.297 SQHIGH 8 26 34 0 35 35 Cosmic_Gene C C A C C TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 7297 19 10472202 10472202 27 AML diagnosis snv SNORA11C EXON E1_exon NM_003446 20-PAKVGI ZNF157|SNORA11C INTRON|UTR SNP Somatic -2 0.089 SQHIGH 7 31 38 0 34 34 G G C G G TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 7712|100124540 X 47248145 47248145 21 AML diagnosis snv FLNA missense V1606E NM_001456 20-PAKVGI FLNA MISSENSE SNP Somatic PFAM:PF00630:Filamin -1 0.098 SQHIGH 11 29 40 0 34 34 Cosmic_Gene A A T A A TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 2316 X 153585930 153585930 33 AML diagnosis complex BAHD1 frameshift H520_L521fs NM_014952 20-PAKVGI BAHD1 FRAMESHIFT Sub Somatic -10 0.262 SQHIGH 5 18 23 1 34 35 ATCT ATCT ACC ATCT ATCT TARGET-20-PAKVGI-09A-01D TARGET-20-PAKVGI-14A-01D 22893 15 40754237 40754240 15 AML relapse snv METTL13 missense D575G NM_015935 20-PALGKX METTL13 MISSENSE SNP Somatic PFAM:PF00398:RrnaAD -7 0.060 SQHIGH 9 33 42 0 45 45 Cosmic_Gene A A G A A TARGET-20-PALGKX-04A-01D TARGET-20-PALGKX-14A-01D 51603 1 171763566 171763566 31 AML relapse snv SLC26A1 silent G577G NM_022042 20-PALGKX SLC26A1|IDUA SYNONYMOUS,INTRON|INTRON SNP dbsnp.132:rs113951266 Somatic -7 0.060 SQHIGH 3 11 14 0 23 23 Cosmic_Gene G G C G G TARGET-20-PALGKX-04A-01D TARGET-20-PALGKX-14A-01D 10861|3425 4 982996 982996 13 AML diagnosis snv SPATA17 missense D289N NM_138796 20-PALGKX SPATA17 MISSENSE SNP Somatic 6 0.211 SQHIGH 13 37 50 0 43 43 Cosmic_Gene G G A G G TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 128153 1 217955657 217955657 39 AML diagnosis snv CACNA2D3 missense D697G NM_018398 20-PALGKX CACNA2D3 MISSENSE SNP Somatic -10 0.047 SQHIGH 19 22 41 1 30 31 Cosmic_Gene A A G A A TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 55799 3 54922019 54922019 46 AML diagnosis snv SLC34A2 silent T543T NM_006424 20-PALGKX SLC34A2 SYNONYMOUS SNP Somatic 10 0.326 SQHIGH 15 13 28 0 21 21 Cosmic_Gene G G A G G TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 10568 4 25677927 25677927 46 AML diagnosis snv IKZF1 missense R502W NM_006060 20-PALGKX IKZF1 MISSENSE SNP Somatic 3 0.155 SQHIGH 11 15 26 1 22 23 Cosmic_Gene C C T C C TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 10320 7 50468269 50468269 27 AML diagnosis snv PCLO missense A547E NM_033026 20-PALGKX PCLO MISSENSE SNP Somatic -1 0.104 SQHIGH 25 20 45 1 35 36 Cosmic_Gene G G T G G TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 27445 7 82784317 82784317 70 AML diagnosis snv ANO4 missense V469I NM_178826 20-PALGKX ANO4 MISSENSE SNP Somatic PFAM:PF04547:Anoctamin 8 0.260 SQHIGH 8 9 17 0 23 23 Cosmic_Gene G G A G G TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 121601 12 101477570 101477570 35 AML diagnosis snv DMD silent T2932T NM_004010 20-PALGKX DMD SYNONYMOUS SNP dbsnp.134:rs137905486 Somatic 10 0.326 SQHIGH 18 7 25 1 25 26 Cosmic_Gene C C T C C TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 1756 X 31341774 31341774 66 AML diagnosis snv FAM133A missense R4P NM_001171110 20-PALGKX FAM133A MISSENSE SNP Somatic 11 0.366 SQHIGH 13 24 37 0 36 36 G G C G G TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 286499 X 92964429 92964429 44 AML diagnosis snv NRAS missense G13D NM_002524 20-PAMVKZ NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 10 0.314 SQHIGH 14 25 39 0 36 36 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 4893 1 115258744 115258744 46 AML diagnosis snv TRIM10 missense C383S NM_052828 20-PAMVKZ TRIM10 UTR3,MISSENSE SNP Somatic -3 0.086 SQHIGH 4 24 28 0 31 31 A A T A A TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 10107 6 30121506 30121506 13 AML diagnosis snv TTC16 missense L602Q NM_144965 20-PAMVKZ TTC16 MISSENSE SNP Somatic 10 0.314 SQHIGH 25 35 60 0 51 51 T T A T T TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 158248 9 130491900 130491900 80 AML diagnosis snv ANKRD30A missense A232V NM_052997 20-PAMVKZ ANKRD30A MISSENSE SNP Somatic -32 0.003 6 31 37 1 47 48 Cosmic_Gene C C T C C TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 91074 10 37430688 37430688 16 AML diagnosis snv SPI1 missense Q227K NM_001080547 20-PAMVKZ MYBPC3|SPI1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00178:Ets 10 0.314 SQHIGH 14 10 24 0 17 17 Cosmic_Gene G G T G G TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 4607|6688 11 47376915 47376915 43 AML diagnosis snv COL4A2 silent G1365G NM_001846 20-PAMVKZ COL4A2 SYNONYMOUS SNP Somatic 7 0.225 SQHIGH 16 15 31 0 27 27 Cosmic_Gene C C T C C TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 1284 13 111155785 111155785 54 AML diagnosis snv RNF31 missense S664A NM_017999 20-PAMVKZ RNF31 MISSENSE SNP Somatic -9 0.054 SQHIGH 4 22 26 0 30 30 Cosmic_Gene T T G T T TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 55072 14 24621061 24621061 14 AML diagnosis snv CNTNAP4 missense Q863K NM_138994 20-PAMVKZ CNTNAP4 MISSENSE SNP Somatic 10 0.314 SQHIGH 12 20 32 1 44 45 Cosmic_Gene C C A C C TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 85445 16 76569492 76569492 42 AML diagnosis snv ZNF671 missense M266V NM_024833 20-PAMVKZ ZNF671 MISSENSE SNP Somatic 9 0.280 SQHIGH 13 15 28 0 38 38 Cosmic_Gene T T C T T TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 79891 19 58232658 58232658 57 AML relapse snv GNAT2 missense R86Q NM_005272 20-PAMYAS GNAT2 MISSENSE SNP dbsnp.134:rs140250745 Somatic 13 0.527 SQHIGH 17 29 46 0 59 59 C C T C C TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 2780 1 110152708 110152708 70 AML relapse snv TCHH missense H467R NM_007113 20-PAMYAS TCHH MISSENSE SNP Somatic -6 0.058 SQHIGH 3 5 8 0 13 13 Cosmic_Gene T T C T T TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 7062 1 152084293 152084293 14 AML relapse snv FIGN missense A369D NM_018086 20-PAMYAS FIGN MISSENSE SNP Somatic 19 0.960 SQHIGH 18 17 35 0 33 33 Cosmic_Gene G G T G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 55137 2 164467236 164467236 64 AML relapse snv SPHKAP silent S240S NM_001142644 20-PAMYAS SPHKAP SYNONYMOUS SNP Somatic 2 0.133 SQHIGH 9 31 40 0 46 46 Cosmic_Gene T T A T T TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 80309 2 228884850 228884850 32 AML relapse snv TET2 nonsense R550* NM_001127208 20-PAMYAS TET2 NONSENSE SNP Somatic 5 0.187 SQHIGH 8 23 31 0 45 45 COSMIC:mut:41644 Cosmic_Gene C C T C C TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 54790 4 106156747 106156747 34 AML relapse snv ENPP6 silent P73P NM_153343 20-PAMYAS ENPP6 SYNONYMOUS SNP Somatic PFAM:PF00884:Sulfatase -1 0.094 SQHIGH 7 37 44 0 54 54 Cosmic_Gene G G T G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 133121 4 185138754 185138754 26 AML relapse snv LNPEP missense L799F NM_005575 20-PAMYAS LNPEP MISSENSE SNP Somatic 9 0.314 SQHIGH 9 28 37 1 40 41 Cosmic_Gene C C T C C TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 4012 5 96358022 96358022 24 AML relapse snv MCC silent H574H NM_001085377 20-PAMYAS MCC SYNONYMOUS SNP Somatic 2 0.133 SQHIGH 5 19 24 0 33 33 Cosmic_Gene G G A G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 4163 5 112418619 112418619 20 AML relapse snv RREB1 missense S1672G NM_001003699 20-PAMYAS RREB1 MISSENSE SNP Somatic 4 0.167 SQHIGH 12 29 41 1 46 47 Cosmic_Gene A A G A A TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 6239 6 7248986 7248986 35 AML relapse snv CARD11 silent D936D NM_032415 20-PAMYAS CARD11 SYNONYMOUS SNP Somatic -3 0.076 SQHIGH 11 29 40 0 36 36 Cosmic_Gene G G A G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 84433 7 2954902 2954902 34 AML relapse snv ADAMTSL1 silent S201S NM_052866 20-PAMYAS ADAMTSL1 SYNONYMOUS SNP dbsnp.134:rs140439822 Somatic 7 0.247 SQHIGH 17 51 68 0 42 42 Cosmic_Gene G G A G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 92949 9 18635942 18635942 39 AML relapse snv KCNMA1 missense L663F NM_001014797 20-PAMYAS KCNMA1 MISSENSE SNP Somatic 6 0.218 SQHIGH 16 35 51 1 56 57 Cosmic_Gene T T A T T TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 3778 10 78778809 78778809 48 AML relapse snv GBF1 missense R235W NM_004193 20-PAMYAS GBF1 MISSENSE SNP Somatic 10 0.356 SQHIGH 10 26 36 0 53 53 Cosmic_Gene C C T C C TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 8729 10 104117859 104117859 43 AML relapse snv SLC35C1 missense G342C NM_018389 20-PAMYAS SLC35C1 MISSENSE SNP Somatic 2 0.133 SQHIGH 10 21 31 0 44 44 G G T G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 55343 11 45832815 45832815 43 AML relapse snv DYNC2H1 splice_region G3909_E81splice_region NM_001377 20-PAMYAS DYNC2H1 ACCEPTOR SNP Somatic -6 0.058 SQHIGH 6 18 24 0 20 20 A A C A A TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 79659 11 103191754 103191754 17 AML relapse snv ABCC9 missense R96Q NM_005691 20-PAMYAS ABCC9 MISSENSE SNP Somatic 9 0.314 SQHIGH 8 17 25 0 28 28 Cosmic_Gene C C T C C TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 10060 12 22078995 22078995 29 AML relapse snv CEP128 silent H711H NM_152446 20-PAMYAS CEP128 SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 19 50 69 0 70 70 Cosmic_Gene G G A G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 145508 14 81251317 81251317 64 AML relapse snv BDKRB2 missense V81I NM_000623 20-PAMYAS BDKRB2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -6 0.058 SQHIGH 7 20 27 1 41 42 Cosmic_Gene G G A G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 624 14 96706906 96706906 23 AML relapse snv SEMA7A missense P589S NM_003612 20-PAMYAS SEMA7A MISSENSE SNP Somatic 4 0.167 SQHIGH 8 24 32 1 48 49 Cosmic_Gene G G A G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 8482 15 74703201 74703201 27 AML relapse snv SLC46A1 missense N68K NM_080669 20-PAMYAS SLC46A1 MISSENSE SNP Somatic 2 0.133 SQHIGH 7 8 15 0 13 13 G G T G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 113235 17 26732929 26732929 23 AML relapse snv ATP8B1 silent F971F NM_005603 20-PAMYAS LOC100505549|ATP8B1 INTRON|SYNONYMOUS SNP Somatic 2 0.133 SQHIGH 6 20 26 0 26 26 Cosmic_Gene G G A G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 100505549|5205 18 55322444 55322444 19 AML relapse snv ATG4D nonsense W218* NM_032885 20-PAMYAS ATG4D NONSENSE SNP Somatic PFAM:PF03416:Peptidase_C54 9 0.314 SQHIGH 19 24 43 1 46 47 G G A G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 84971 19 10657675 10657675 61 AML relapse snv GDF15 missense A117G NM_004864 20-PAMYAS GDF15 MISSENSE SNP Somatic 0 0.107 SQHIGH 5 12 17 0 36 36 Cosmic_Gene C C G C C TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 9518 19 18499168 18499168 27 AML relapse snv LPIN3 silent D535D NM_022896 20-PAMYAS LPIN3 SYNONYMOUS SNP Somatic 14 0.601 SQHIGH 15 30 45 0 37 37 Cosmic_Gene C C T C C TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 64900 20 39983362 39983362 45 AML relapse snv CTSA missense R338H NM_000308 20-PAMYAS CTSA|NEURL2 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00450:Peptidase_S10 -2 0.085 SQHIGH 5 13 18 0 22 22 Cosmic_Gene G G A G G TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 5476|140825 20 44523643 44523643 19 AML relapse complex LPIN3 frameshift R532_R534fs NM_022896 20-PAMYAS LPIN3 FRAMESHIFT Sub Somatic -7 0.294 SQHIGH 18 44 62 0 53 53 Cosmic_Gene CGACGCAGG CGACGCAGG CT CGACGCAGG CGACGCAGG TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 64900 20 39983351 39983359 54 AML diagnosis snv C8A silent H465H NM_000562 20-PAMYAS C8A SYNONYMOUS SNP Somatic PFAM:PF01823:MACPF -4 0.083 SQHIGH 7 35 42 0 55 55 Cosmic_Gene C C T C C TARGET-20-PAMYAS-09A-02D TARGET-20-PAMYAS-14A-02D 731 1 57378090 57378090 27 AML diagnosis snv SDK1 missense A1086T NM_152744 20-PAMYAS SDK1 MISSENSE SNP Somatic -2 0.103 SQHIGH 11 39 50 1 51 52 Cosmic_Gene G G A G G TARGET-20-PAMYAS-09A-02D TARGET-20-PAMYAS-14A-02D 221935 7 4119148 4119148 28 AML diagnosis snv CDH17 splice_region P518_E13splice_region NM_004063 20-PAMYAS CDH17 ACCEPTOR SNP Somatic 5 0.216 SQHIGH 6 23 29 0 24 24 Cosmic_Gene A A T A A TARGET-20-PAMYAS-09A-02D TARGET-20-PAMYAS-14A-02D 1015 8 95164347 95164347 17 AML diagnosis snv OR5D13 missense V210L NM_001001967 20-PAMYAS OR5D13 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.279 SQHIGH 14 25 39 0 40 40 Cosmic_Gene G G T G G TARGET-20-PAMYAS-09A-02D TARGET-20-PAMYAS-14A-02D 390142 11 55541541 55541541 49 AML diagnosis snv THBS1 missense A883D NM_003246 20-PAMYAS THBS1 MISSENSE SNP Somatic -6 0.070 SQHIGH 7 34 41 0 29 29 Cosmic_Gene C C A C C TARGET-20-PAMYAS-09A-02D TARGET-20-PAMYAS-14A-02D 7057 15 39884884 39884884 17 AML diagnosis snv NLGN2 missense Q343K NM_020795 20-PAMYAS NLGN2 MISSENSE SNP Somatic PFAM:PF00135:COesterase PFAM:PF06342:DUF1057 -7 0.063 SQHIGH 6 18 24 0 32 32 Cosmic_Gene C C A C C TARGET-20-PAMYAS-09A-02D TARGET-20-PAMYAS-14A-02D 57555 17 7318457 7318457 24 AML diagnosis snv ATG4D nonsense W218* NM_032885 20-PAMYAS ATG4D NONSENSE SNP Somatic PFAM:PF03416:Peptidase_C54 8 0.313 SQHIGH 14 26 40 1 46 47 G G A G G TARGET-20-PAMYAS-09A-02D TARGET-20-PAMYAS-14A-02D 84971 19 10657675 10657675 44 AML diagnosis snv SZT2 missense S1816R NM_015284 20-PAMYGX SZT2 MISSENSE SNP Somatic -5 0.086 SQHIGH 7 33 40 0 40 40 Cosmic_Gene C C G C C TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 23334 1 43898676 43898676 22 AML diagnosis snv SZT2 missense S1817R NM_015284 20-PAMYGX SZT2 MISSENSE SNP Somatic -7 0.075 SQHIGH 6 32 38 0 38 38 Cosmic_Gene T T G T T TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 23334 1 43898679 43898679 19 AML diagnosis snv EDIL3 missense G113R NM_005711 20-PAMYGX EDIL3 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 4 0.188 SQHIGH 14 42 56 0 66 66 Cosmic_Gene C C T C C TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 10085 5 83476229 83476229 52 AML diagnosis snv ZNF395 silent S178S NM_018660 20-PAMYGX ZNF395 SYNONYMOUS SNP Somatic 3 0.173 SQHIGH 9 37 46 0 41 41 G G C G G TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 55893 8 28214236 28214236 27 AML diagnosis snv PPP2R2D missense R139W NM_001291310 20-PAMYGX PPP2R2D MISSENSE,UTR SNP Somatic PFAM:PF00400:WD40 -1 0.122 SQHIGH 10 55 65 0 53 53 Cosmic_Gene C C T C C TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 55844 10 133761123 133761123 27 AML diagnosis snv NFE2 missense R312P NM_006163 20-PAMYGX NFE2 MISSENSE SNP Somatic -1 0.122 SQHIGH 13 27 40 0 35 35 C C G C C TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 4778 12 54686345 54686345 40 AML diagnosis snv PTPN11 missense A72V NM_002834 20-PAMYGX PTPN11 MISSENSE SNP Somatic 10 0.350 SQHIGH 10 25 35 1 36 37 COSMIC:mut:13015 Cosmic_Gene C C T C C TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 5781 12 112888199 112888199 26 AML diagnosis snv GPR139 silent T138T NM_001002911 20-PAMYGX GPR139 SYNONYMOUS SNP Somatic PFAM:PF10320:7TM_GPCR_Srsx 3 0.173 SQHIGH 14 53 67 0 48 48 Cosmic_Gene C C T C C TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 124274 16 20043705 20043705 36 AML diagnosis snv CLUH missense S1216A NM_015229 20-PAMYGX CLUH MISSENSE SNP Somatic -9 0.064 SQHIGH 4 5 9 0 16 16 Cosmic_Gene A A C A A TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 23277 17 2595081 2595081 20 AML diagnosis mnv ADAMTS18 missense R215P NM_199355 20-PAMYGX ADAMTS18 MISSENSE Sub Somatic -10 0.272 SQHIGH 6 21 27 0 19 19 Cosmic_Gene AC AC GG AC AC TARGET-20-PAMYGX-09A-03D TARGET-20-PAMYGX-14A-02D 170692 16 77401471 77401472 15 AML relapse snv DENND4B splice A857_E18splice NM_014856 20-PAMYJX DENND4B ACCEPTOR SNP Somatic -6 0.051 SQHIGH 11 24 35 1 41 42 Cosmic_Gene A A G A A TARGET-20-PAMYJX-04A-01D TARGET-20-PAMYJX-14A-01D 9909 1 153907443 153907443 33 AML relapse snv VEGFC missense T184M NM_005429 20-PAMYJX VEGFC MISSENSE SNP Somatic 2 0.100 SQHIGH 18 15 33 1 25 26 Cosmic_Gene G G A G G TARGET-20-PAMYJX-04A-01D TARGET-20-PAMYJX-14A-01D 7424 4 177648933 177648933 47 AML relapse snv TENM3 missense R1236H NM_001080477 20-PAMYJX TENM3 MISSENSE SNP Somatic 17 0.765 SQHIGH 23 19 42 0 33 33 G G A G G TARGET-20-PAMYJX-04A-01D TARGET-20-PAMYJX-14A-01D 55714 4 183673030 183673030 74 AML relapse snv CAST missense S55T NM_001042440 20-PAMYJX CAST UTR5,MISSENSE SNP Somatic 3 0.109 SQHIGH 3 10 13 0 24 24 Cosmic_Gene G G C G G TARGET-20-PAMYJX-04A-01D TARGET-20-PAMYJX-14A-01D 831 5 96031565 96031565 14 AML relapse snv MGA nonsense R1106* NM_001164273 20-PAMYJX MGA NONSENSE SNP Somatic 16 0.618 SQHIGH 25 2 27 0 47 47 Cosmic_Gene C T T C C TARGET-20-PAMYJX-04A-01D TARGET-20-PAMYJX-14A-01D 23269 15 42005580 42005580 170 AML relapse snv ABCC12 missense S494L NM_033226 20-PAMYJX ABCC12 MISSENSE SNP Somatic 10 0.241 SQHIGH 23 35 58 0 45 45 Cosmic_Gene G G A G G TARGET-20-PAMYJX-04A-01D TARGET-20-PAMYJX-14A-01D 94160 16 48162404 48162404 68 AML relapse complex FLT3 frameshift R595_E596fs NM_004119 20-PAMYJX FLT3 FRAMESHIFT Sub Somatic PFAM:PF03109:ABC1 -4 0.311 SQHIGH 20 36 56 1 71 72 Cosmic_Gene TTCT TTCT TCCAAA TTCT TTCT TARGET-20-PAMYJX-04A-01D TARGET-20-PAMYJX-14A-01D 2322 13 28608268 28608271 70 AML diagnosis snv SPTBN5 missense L1895P NM_016642 20-PAMYJX MIR4310|SPTBN5 TSS-UPSTREAM|MISSENSE SNP Somatic -10 0.036 SQHIGH 4 13 17 0 21 21 Cosmic_Gene A A G A A TARGET-20-PAMYJX-09A-02D TARGET-20-PAMYJX-14A-01D 100423013|51332 15 42162208 42162208 15 AML diagnosis snv NRAS missense G12D NM_002524 20-PANAEV NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -26 0.009 3 38 41 0 41 41 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 4893 1 115258747 115258747 9 AML diagnosis snv SOCS5 missense V370M NM_014011 20-PANAEV SOCS5 MISSENSE SNP Somatic 1 0.142 SQHIGH 20 31 51 0 38 38 Cosmic_Gene G G A G G TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 9655 2 46986777 46986777 57 AML diagnosis snv PPARGC1B silent E435E NM_133263 20-PANAEV PPARGC1B SYNONYMOUS SNP Somatic -6 0.080 SQHIGH 4 34 38 0 43 43 A A G A A TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 133522 5 149212941 149212941 14 AML diagnosis snv PBK missense P30Q NM_018492 20-PANAEV PBK MISSENSE SNP Somatic -2 0.109 SQHIGH 6 9 15 0 23 23 G G T G G TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 55872 8 27685685 27685685 27 AML diagnosis snv HSPA5 silent L416L NM_005347 20-PANAEV HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -5 0.085 SQHIGH 14 34 48 1 33 34 Cosmic_Gene C C A C C TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 3309 9 128000574 128000574 28 AML diagnosis snv HSPA5 silent V415V NM_005347 20-PANAEV HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -2 0.109 SQHIGH 14 42 56 0 39 39 Cosmic_Gene T T G T T TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 3309 9 128000577 128000577 35 AML diagnosis snv PTPN11 missense S502A NM_002834 20-PANAEV PTPN11 MISSENSE SNP Somatic 4 0.184 SQHIGH 12 44 56 0 65 65 Cosmic_Gene T T G T T TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 5781 12 112926884 112926884 43 AML diagnosis snv FLT3 missense D835V NM_004119 20-PANAEV FLT3 MISSENSE SNP dbsnp.133:rs121909646 Somatic PFAM:PF03109:ABC1 -26 0.009 4 41 45 0 50 50 COSMIC:mut:784 Cosmic_Gene T T A T T TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 2322 13 28592641 28592641 13 AML diagnosis snv ARMC5 silent A368A NM_001105247 20-PANAEV ARMC5 SYNONYMOUS SNP Somatic 2 0.155 SQHIGH 8 23 31 1 35 36 Cosmic_Gene T T G T T TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 79798 16 31473972 31473972 21 AML diagnosis snv JPH3 missense A671S NM_020655 20-PANAEV JPH3 MISSENSE SNP Somatic -31 0.005 6 25 31 0 24 24 Cosmic_Gene G G T G G TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 57338 16 87723977 87723977 16 AML diagnosis snv DNMT3B missense R364S NM_006892 20-PANAEV DNMT3B INTRON,MISSENSE SNP Somatic 13 0.491 SQHIGH 16 15 31 0 54 54 Cosmic_Gene C C A C C TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 1789 20 31381365 31381365 84 AML diagnosis mnv ZXDC missense S496Q NM_025112 20-PANAEV ZXDC MISSENSE Sub Somatic -3 0.431 SQHIGH 6 14 20 1 27 28 Cosmic_Gene ACT ACT CTG ACT ACT TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 79364 3 126181017 126181019 18 AML diagnosis snv UNC80 missense R2752W NM_032504 20-PANBZH UNC80 MISSENSE SNP Somatic 9 0.325 SQHIGH 24 16 40 0 36 36 C C T C C TARGET-20-PANBZH-09A-03D TARGET-20-PANBZH-14A-02D 285175 2 210837859 210837859 88 AML diagnosis snv KMT2D missense G5410E NM_003482 20-PANBZH MLL2|PRKAG1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00856:SET 10 0.362 SQHIGH 33 37 70 0 62 62 Cosmic_Gene C C T C C TARGET-20-PANBZH-09A-03D TARGET-20-PANBZH-14A-02D 8085|5571 12 49416482 49416482 111 AML diagnosis snv SMG1 silent Y748Y NM_015092 20-PANBZH SMG1 SYNONYMOUS SNP dbsnp.134:rs146051500 Somatic -2 0.115 SQHIGH 3 13 16 0 32 32 Cosmic_Gene G G A G G TARGET-20-PANBZH-09A-03D TARGET-20-PANBZH-14A-02D 23049 16 18882744 18882744 15 AML diagnosis snv ISYNA1 silent A423A NM_016368 20-PANBZH ISYNA1 SYNONYMOUS SNP Somatic PFAM:PF01658:Inos-1-P_synth PFAM:PF07994:NAD_binding_5 -1 0.125 SQHIGH 7 4 11 0 9 9 Cosmic_Gene G G A G G TARGET-20-PANBZH-09A-03D TARGET-20-PANBZH-14A-02D 51477 19 18546279 18546279 24 AML diagnosis snv GAL3ST1 silent L404L NM_004861 20-PANBZH GAL3ST1 SYNONYMOUS SNP Somatic PFAM:PF03567:Sulfotransfer_2 -4 0.097 SQHIGH 6 19 25 0 33 33 G G A G G TARGET-20-PANBZH-09A-03D TARGET-20-PANBZH-14A-02D 9514 22 30951000 30951000 24 AML diagnosis mnv AGAP11 missense T15_E16>TQ NM_133447 20-PANBZH AGAP11 MISSENSE Sub Somatic -7 0.327 SQHIGH 7 23 30 0 27 27 GG GG AC GG GG TARGET-20-PANBZH-09A-03D TARGET-20-PANBZH-14A-02D 119385 10 88764112 88764113 21 AML relapse snv CACNA1D missense R116Q NM_000720 20-PANCSC CACNA1D MISSENSE SNP Somatic -23 0.012 4 40 44 0 60 60 Cosmic_Gene G G A G G TARGET-20-PANCSC-04A-01D TARGET-20-PANCSC-14A-01D 776 3 53531458 53531458 15 AML relapse snv OR52L1 missense K313Q NM_001005173 20-PANCSC OR52L1 MISSENSE SNP Somatic -9 0.056 SQHIGH 4 16 20 0 26 26 Cosmic_Gene T T G T T TARGET-20-PANCSC-04A-01D TARGET-20-PANCSC-14A-01D 338751 11 6007224 6007224 15 AML relapse snv TRPV1 missense F559I NM_080704 20-PANCSC TRPV1 MISSENSE SNP Somatic PFAM:PF08016:PKD_channel -4 0.088 SQHIGH 3 20 23 0 47 47 Cosmic_Gene A A T A A TARGET-20-PANCSC-04A-01D TARGET-20-PANCSC-14A-01D 7442 17 3480930 3480930 15 AML diagnosis snv MECR missense L100R NM_016011 20-PANCSC MECR MISSENSE SNP Somatic -7 0.075 SQHIGH 4 26 30 0 45 45 Cosmic_Gene A A C A A TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 51102 1 29542624 29542624 16 AML diagnosis snv MECR missense E99V NM_016011 20-PANCSC MECR MISSENSE SNP Somatic -2 0.122 SQHIGH 4 32 37 0 42 42 Cosmic_Gene T T A T T TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 51102 1 29542627 29542627 14 AML diagnosis snv RYR2 missense G3293R NM_001035 20-PANCSC RYR2 MISSENSE SNP Somatic -3 0.109 SQHIGH 8 32 40 0 27 27 Cosmic_Gene G G C G G TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 6262 1 237870545 237870545 19 AML diagnosis snv SLC26A6 missense S342P NM_022911 20-PANCSC SLC26A6 MISSENSE SNP Somatic PFAM:PF00916:Sulfate_transp -10 0.056 SQHIGH 9 40 49 2 49 51 Cosmic_Gene A A G A A TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 65010 3 48668536 48668536 17 AML diagnosis snv TRRAP silent V2674V NM_003496 20-PANCSC TRRAP SYNONYMOUS SNP Somatic -7 0.075 SQHIGH 7 19 26 0 15 15 Cosmic_Gene C C T C C TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 8295 7 98574243 98574243 15 AML diagnosis snv IGSF6 missense K84R NM_005849 20-PANCSC IGSF6|METTL9 MISSENSE|INTRON SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set 7 0.330 SQHIGH 23 28 51 0 54 54 Cosmic_Gene T T C T T TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 10261|51108 16 21658630 21658630 87 AML diagnosis snv JAK3 missense L857P NM_000215 20-PANCSC JAK3 MISSENSE SNP Somatic -9 0.062 SQHIGH 8 36 44 1 54 55 Cosmic_Gene A A G A A TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 3718 19 17943438 17943438 22 AML diagnosis snv ZNF208 missense R147H NM_007153 20-PANCSC ZNF208 MISSENSE SNP Somatic 20 1.000 SQHIGH 18 17 35 0 46 46 Cosmic_Gene C C T C C TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 7757 19 22157396 22157396 80 AML diagnosis snv SCAF4 missense A309P NM_020706 20-PANCSC SCAF4 MISSENSE SNP Somatic -1 0.136 SQHIGH 4 10 14 0 24 24 C C G C C TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 57466 21 33068916 33068916 19 AML diagnosis mnv ZBTB3 missense S289_A290>SG NM_024784 20-PANCSC ZBTB3 MISSENSE Sub Somatic -8 0.313 SQHIGH 5 8 13 0 23 23 Cosmic_Gene GCT GCT CCA GCT GCT TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 79842 11 62520418 62520420 25 AML diagnosis mnv BLM missense A679_L680>AI NM_000057 20-PANCSC BLM MISSENSE Sub Somatic -10 0.275 SQHIGH 8 56 64 1 62 63 Cosmic_Gene ACTG ACTG GATC ACTG ACTG TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 641 15 91306350 91306353 18 AML diagnosis snv SPEN silent A2174A NM_015001 20-PANDDC SPEN SYNONYMOUS SNP Somatic -4 0.079 SQHIGH 6 23 29 0 30 30 Cosmic_Gene C C A C C TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 23013 1 16259257 16259257 20 AML diagnosis snv PTPRF missense E1155K NM_002840 20-PANDDC PTPRF MISSENSE SNP Somatic 16 0.699 SQHIGH 27 24 51 0 40 40 Cosmic_Gene G G A G G TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 5792 1 44071273 44071273 86 AML diagnosis snv IDH1 missense R132C NM_005896 20-PANDDC IDH1 MISSENSE SNP dbsnp.133:rs121913499 Somatic PFAM:PF00180:Iso_dh 9 0.277 SQHIGH 21 32 53 1 61 62 COSMIC:mut:28747 Cosmic_Gene G G A G G TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 3417 2 209113113 209113113 70 AML diagnosis snv SNX2 missense I518V NM_003100 20-PANDDC SNX2 MISSENSE SNP Somatic 14 0.531 SQHIGH 14 16 30 0 27 27 Cosmic_Gene A A G A A TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 6643 5 122165335 122165335 47 AML diagnosis snv SYNE1 missense K2559E NM_182961 20-PANDDC SYNE1 MISSENSE SNP Somatic 12 0.399 SQHIGH 8 24 32 1 28 29 Cosmic_Gene T T C T T TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 23345 6 152716688 152716688 17 AML diagnosis snv MYL10 missense E57G NM_138403 20-PANDDC MYL10 MISSENSE SNP Somatic -3 0.085 SQHIGH 5 7 12 0 18 18 Cosmic_Gene T T C T T TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 93408 7 101267453 101267453 23 AML diagnosis snv VDR missense S41P NM_001017536 20-PANDDC VDR UTR5,MISSENSE SNP Somatic -8 0.058 SQHIGH 4 22 26 0 30 30 Cosmic_Gene A A G A A TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 7421 12 48276504 48276504 14 AML diagnosis snv FLT3 missense N676K NM_004119 20-PANDDC FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 -8 0.058 SQHIGH 4 11 15 0 16 16 Cosmic_Gene G G T G G TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 2322 13 28602340 28602340 14 AML diagnosis snv PSG11 missense Q290R NM_002785 20-PANDDC PSG11 MISSENSE SNP Somatic PFAM:PF00047:ig 7 0.224 SQHIGH 39 45 84 0 94 94 T T C T T TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 5680 19 43519363 43519363 154 AML diagnosis snv PTK6 missense S75T NM_005975 20-PANDDC PTK6 MISSENSE SNP Somatic -9 0.054 SQHIGH 6 32 38 0 28 28 Cosmic_Gene A A T A A TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 5753 20 62168445 62168445 15 AML diagnosis mnv SPECC1 missense Q490_T492>HVA NM_001033553 20-PANDDC SPECC1 MISSENSE Sub Somatic -7 0.303 SQHIGH 6 21 27 1 31 32 Cosmic_Gene GTTGA GTTGA TGTAG GTTGA GTTGA TARGET-20-PANDDC-09A-03D TARGET-20-PANDDC-14A-01D 92521 17 20108832 20108836 15 AML diagnosis snv CCR1 silent N231N NM_001295 20-PANDER CCR1 SYNONYMOUS SNP Somatic 15 0.586 SQHIGH 18 22 40 0 52 52 Cosmic_Gene A A G A A TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 1230 3 46245112 46245112 77 AML diagnosis snv TET2 nonsense S1798* NM_001127208 20-PANDER TET2 NONSENSE SNP Somatic 14 0.513 SQHIGH 31 31 62 0 52 52 Cosmic_Gene C C A C C TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 54790 4 106197060 106197060 102 AML diagnosis snv CNR1 silent R409R NM_016083 20-PANDER CNR1 SYNONYMOUS SNP dbsnp.134:rs149335541 Somatic PFAM:PF10320:7TM_GPCR_Srsx 16 0.664 SQHIGH 13 22 35 0 57 57 Cosmic_Gene G G T G G TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 1268 6 88853769 88853769 62 AML diagnosis snv DNHD1 missense G958S NM_144666 20-PANDER DNHD1 MISSENSE SNP Somatic 15 0.586 SQHIGH 24 11 35 0 47 47 Cosmic_Gene G G A G G TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 144132 11 6555277 6555277 119 AML diagnosis snv SYVN1 missense M184I NM_032431 20-PANDER SYVN1 MISSENSE SNP Somatic 11 0.339 SQHIGH 31 25 56 1 53 54 Cosmic_Gene C C T C C TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 84447 11 64899047 64899047 102 AML diagnosis snv C15orf39 missense V701A NM_015492 20-PANDER C15orf39 MISSENSE SNP Somatic 11 0.339 SQHIGH 19 29 48 0 40 40 T T C T T TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 56905 15 75500491 75500491 59 AML diagnosis snv SOGA1 missense L1089Q NM_080627 20-PANDER SOGA1 MISSENSE SNP Somatic -8 0.053 SQHIGH 5 30 35 0 30 30 Cosmic_Gene A A T A A TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 140710 20 35431332 35431332 14 AML diagnosis snv VSIG1 silent I309I NM_001170553 20-PANDER VSIG1 SYNONYMOUS SNP Somatic 11 0.339 SQHIGH 15 27 42 0 49 49 Cosmic_Gene C C A C C TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 340547 X 107319437 107319437 57 AML diagnosis snv PLXNB3 missense G1619E NM_005393 20-PANDER PLXNB3|SRPK3 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF08337:Plexin_cytopl 9 0.269 SQHIGH 7 6 13 0 20 20 Cosmic_Gene G G A G G TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 5365|26576 X 153042364 153042364 34 AML diagnosis mnv FLT3 missense I836_M837>CP NM_004119 20-PANDER FLT3 MISSENSE Sub Somatic PFAM:PF03109:ABC1 0 0.570 SQHIGH 22 31 53 0 70 70 Cosmic_Gene ATGAT ATGAT GGACA ATGAT ATGAT TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 2322 13 28592635 28592639 94 AML relapse snv CSN2 splice_region D49_E5splice_region NM_001891 20-PANDIX CSN2 ACCEPTOR SNP Somatic 4 0.170 SQHIGH 15 46 61 0 43 43 A A G A A TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 1447 4 70823527 70823527 38 AML relapse snv SOWAHB missense R758Q NM_001029870 20-PANDIX SOWAHB MISSENSE SNP dbsnp.134:rs150122023 Somatic 10 0.361 SQHIGH 26 18 44 0 55 55 C C T C C TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 345079 4 77816730 77816730 117 AML relapse snv TRIML1 missense R124S NM_178556 20-PANDIX TRIML1 MISSENSE SNP Somatic 13 0.528 SQHIGH 11 22 33 0 35 35 Cosmic_Gene A A T A A TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 339976 4 189061084 189061084 39 AML relapse snv F12 silent L341L NM_000505 20-PANDIX F12|PFN3 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 6 0.224 SQHIGH 12 11 23 0 36 36 A A G A A TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 2161|345456 5 176831089 176831089 59 AML relapse snv COL19A1 splice K291K NM_001858 20-PANDIX COL19A1 SYNONYMOUS SNP Somatic PFAM:PF01391:Collagen 14 0.602 SQHIGH 28 27 55 0 60 60 Cosmic_Gene G G A G G TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 1310 6 70646802 70646802 111 AML relapse snv TAS2R3 missense T49I NM_016943 20-PANDIX TAS2R3 MISSENSE SNP Somatic PFAM:PF03402:V1R -7 0.059 SQHIGH 5 40 45 0 50 50 Cosmic_Gene C C T C C TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 50831 7 141464104 141464104 17 AML relapse snv MCM4 missense R25Q NM_005914 20-PANDIX PRKDC|MCM4 TSS-UPSTREAM|MISSENSE SNP Somatic 8 0.287 SQHIGH 8 14 22 0 26 26 Cosmic_Gene G G A G G TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 5591|4173 8 48874079 48874079 31 AML relapse snv MKI67 missense P1014Q NM_002417 20-PANDIX MKI67 MISSENSE SNP Somatic PFAM:PF08065:K167R 9 0.321 SQHIGH 41 46 87 1 52 53 Cosmic_Gene G G T G G TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 4288 10 129907063 129907063 92 AML relapse snv CBL missense Y371S NM_005188 20-PANDIX CBL MISSENSE SNP Somatic -9 0.051 SQHIGH 6 31 37 0 41 41 Cosmic_Gene A A C A A TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 867 11 119148892 119148892 20 AML relapse snv PTPN11 missense A72D NM_002834 20-PANDIX PTPN11 MISSENSE SNP Somatic 16 0.757 SQHIGH 12 26 38 0 47 47 COSMIC:mut:13035 Cosmic_Gene C C A C C TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 5781 12 112888199 112888199 47 AML relapse snv ZNF341 missense V140M NM_032819 20-PANDIX ZNF341 MISSENSE SNP Somatic 10 0.361 SQHIGH 25 26 51 0 51 51 Cosmic_Gene G G A G G TARGET-20-PANDIX-04A-01D TARGET-20-PANDIX-14A-02D 84905 20 32336807 32336807 92 AML diagnosis snv ZAK silent N222N NM_016653 20-PANDIX MLK7-AS1|ZAK UTR|SYNONYMOUS SNP Somatic PFAM:PF03109:ABC1 -8 0.048 SQHIGH 6 31 37 0 26 26 Cosmic_Gene C C T C C TARGET-20-PANDIX-09A-02D TARGET-20-PANDIX-14A-02D 339751|51776 2 174062837 174062837 15 AML diagnosis snv BHLHA15 missense S136R NM_177455 20-PANDIX BHLHA15 MISSENSE SNP Somatic 4 0.153 SQHIGH 4 8 12 1 21 22 A A C A A TARGET-20-PANDIX-09A-02D TARGET-20-PANDIX-14A-02D 168620 7 97842027 97842027 14 AML diagnosis snv APOF missense Q108H NM_001638 20-PANDIX STAT2|APOF TSS-UPSTREAM|MISSENSE SNP Somatic 13 0.510 SQHIGH 17 19 36 0 36 36 Cosmic_Gene C C A C C TARGET-20-PANDIX-09A-02D TARGET-20-PANDIX-14A-02D 6773|319 12 56755666 56755666 62 AML diagnosis snv GALNT9 silent S260S NM_001122636 20-PANDIX GALNT9 SYNONYMOUS SNP Somatic 7 0.233 SQHIGH 11 18 29 1 28 29 C C T C C TARGET-20-PANDIX-09A-02D TARGET-20-PANDIX-14A-02D 50614 12 132834407 132834407 29 AML diagnosis snv TIAM1 silent S414S NM_003253 20-PANDIX TIAM1 SYNONYMOUS SNP Somatic 8 0.265 SQHIGH 8 7 15 0 22 22 Cosmic_Gene G G A G G TARGET-20-PANDIX-09A-02D TARGET-20-PANDIX-14A-02D 7074 21 32624227 32624227 38 AML diagnosis mnv PRKCSH missense L342_S343>PP NM_002743 20-PANDIX PRKCSH ACCEPTOR,MISSENSE Sub Somatic -1 0.540 SQHIGH 6 21 27 0 27 27 TGT TGT CGC TGT TGT TARGET-20-PANDIX-09A-02D TARGET-20-PANDIX-14A-02D 5589 19 11558524 11558526 19 AML diagnosis snv MEGF6 silent T735T NM_001409 20-PANFMG MEGF6 SYNONYMOUS SNP Somatic -9 0.063 SQHIGH 5 7 12 0 10 10 Cosmic_Gene C C T C C TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 1953 1 3418469 3418469 15 AML diagnosis snv ARRDC3 missense T203I NM_020801 20-PANFMG ARRDC3|LOC100129716 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00339:Arrestin_N -8 0.068 SQHIGH 6 6 12 0 11 11 Cosmic_Gene G G A G G TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 57561|100129716 5 90671333 90671333 20 AML diagnosis snv ADAMTS15 missense R563Q NM_139055 20-PANFMG ADAMTS15 MISSENSE SNP Somatic 6 0.235 SQHIGH 29 41 70 0 61 61 Cosmic_Gene G G A G G TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 170689 11 130339302 130339302 94 AML diagnosis snv TNFRSF19 missense L277P NM_018647 20-PANFMG TNFRSF19 MISSENSE SNP Somatic 17 0.842 SQHIGH 13 20 33 0 45 45 Cosmic_Gene T T C T T TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 55504 13 24242212 24242212 56 AML diagnosis snv FLT3 missense S451F NM_004119 20-PANFMG FLT3 MISSENSE SNP Somatic 19 0.953 SQHIGH 13 16 29 0 40 40 Cosmic_Gene G G A G G TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 2322 13 28610138 28610138 58 AML diagnosis snv CYP1A2 missense R457W NM_000761 20-PANFMG CYP1A2 MISSENSE SNP dbsnp.126:rs34151816 Somatic PFAM:PF00067:p450 13 0.501 SQHIGH 19 30 49 0 50 50 Cosmic_Gene C C T C C TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 1544 15 75047247 75047247 68 AML diagnosis snv PGAP3 missense S107L NM_033419 20-PANFMG ERBB2|PGAP3 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF04080:Per1 16 0.731 SQHIGH 21 20 41 0 39 39 Cosmic_Gene G G A G G TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 2064|93210 17 37840962 37840962 76 AML diagnosis snv MYCBPAP missense E219D NM_032133 20-PANFMG MYCBPAP MISSENSE SNP Somatic -10 0.060 SQHIGH 4 28 32 0 35 35 Cosmic_Gene G G C G G TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 84073 17 48595961 48595961 13 AML diagnosis snv TNFAIP8L1 missense K16Q NM_001167942 20-PANFMG TNFAIP8L1 MISSENSE SNP Somatic PFAM:PF05527:DUF758 2 0.157 SQHIGH 11 19 30 0 48 48 A A C A A TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 126282 19 4651927 4651927 52 AML diagnosis snv LIG1 splice_region A418_E13splice_region NM_000234 20-PANFMG LIG1 DONOR SNP Somatic -4 0.093 SQHIGH 9 26 35 0 33 33 Cosmic_Gene T T C T T TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 3978 19 48640775 48640775 28 AML diagnosis mnv EPAS1 missense P599_E600>HR NM_001430 20-PANFMG EPAS1 MISSENSE Sub Somatic -7 0.322 SQHIGH 10 59 69 1 51 52 Cosmic_Gene CCGA CCGA ACCG CCGA CCGA TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 2034 2 46607607 46607610 18 AML diagnosis snv TCEA3 missense S196L NM_003196 20-PANGCM TCEA3 MISSENSE SNP Somatic PFAM:PF07500:TFIIS_M 3 0.169 SQHIGH 7 25 32 0 15 15 G G A G G TARGET-20-PANGCM-03A-03D TARGET-20-PANGCM-14A-02D 6920 1 23724305 23724305 13 AML diagnosis snv NRAS missense Q61R NM_002524 20-PANGCM NRAS MISSENSE SNP dbsnp.120:rs11554290 Somatic -4 0.092 SQHIGH 6 22 28 0 28 28 COSMIC:mut:584 Cosmic_Gene T T C T T TARGET-20-PANGCM-03A-03D TARGET-20-PANGCM-14A-02D 4893 1 115256529 115256529 19 AML diagnosis snv HMCN1 missense R827Q NM_031935 20-PANGCM HMCN1 MISSENSE SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set 12 0.437 SQHIGH 9 14 23 0 22 22 Cosmic_Gene G G A G G TARGET-20-PANGCM-03A-03D TARGET-20-PANGCM-14A-02D 83872 1 185947027 185947027 30 AML diagnosis snv STAG3 nonsense Y454* NM_012447 20-PANGCM STAG3 NONSENSE SNP Somatic 3 0.169 SQHIGH 16 35 51 1 60 61 Cosmic_Gene C C A C C TARGET-20-PANGCM-03A-03D TARGET-20-PANGCM-14A-02D 10734 7 99796475 99796475 51 AML diagnosis snv CTTNBP2 silent T105T NM_033427 20-PANGCM CTTNBP2 SYNONYMOUS SNP Somatic PFAM:PF09727:CortBP2 14 0.570 SQHIGH 9 22 31 0 39 39 Cosmic_Gene G G A G G TARGET-20-PANGCM-03A-03D TARGET-20-PANGCM-14A-02D 83992 7 117450918 117450918 35 AML diagnosis snv FREM2 nonsense R310* NM_207361 20-PANGCM FREM2 NONSENSE SNP Somatic -2 0.109 SQHIGH 8 38 46 0 44 44 Cosmic_Gene C C T C C TARGET-20-PANGCM-03A-03D TARGET-20-PANGCM-14A-02D 341640 13 39262409 39262409 25 AML relapse snv ACVR1C missense A163V NM_145259 20-PANGDN ACVR1C INTRON,MISSENSE SNP Somatic 4 0.171 SQHIGH 13 31 44 1 37 38 Cosmic_Gene G G A G G TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 130399 2 158412661 158412661 30 AML relapse snv PRKCD missense T58M NM_006254 20-PANGDN PRKCD MISSENSE SNP Somatic 11 0.403 SQHIGH 15 30 45 0 39 39 Cosmic_Gene C C T C C TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 5580 3 53213650 53213650 46 AML relapse snv STPG2 missense Y2N NM_174952 20-PANGDN STPG2 MISSENSE SNP Somatic 5 0.190 SQHIGH 10 20 30 0 29 29 A A T A A TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 285555 4 99064298 99064298 33 AML relapse snv RGS22 missense R979C NM_015668 20-PANGDN RGS22 MISSENSE SNP Somatic 15 0.684 SQHIGH 14 23 37 1 38 39 Cosmic_Gene G G A G G TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 26166 8 101011504 101011504 41 AML relapse snv ABL1 missense A991T NM_005157 20-PANGDN ABL1 MISSENSE SNP Somatic PFAM:PF08919:F_actin_bind -1 0.101 SQHIGH 13 31 44 0 35 35 Cosmic_Gene G G A G G TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 25 9 133760648 133760648 37 AML relapse snv MYO3A missense M236I NM_017433 20-PANGDN MYO3A MISSENSE SNP Somatic 10 0.356 SQHIGH 9 26 35 0 48 48 Cosmic_Gene G G A G G TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 53904 10 26310554 26310554 37 AML relapse snv FAM214A missense C99Y NM_019600 20-PANGDN FAM214A MISSENSE SNP Somatic -6 0.064 SQHIGH 3 13 16 0 26 26 C C T C C TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 56204 15 52903880 52903880 13 AML relapse snv PMFBP1 missense L658F NM_031293 20-PANGDN PMFBP1 MISSENSE SNP Somatic 1 0.125 SQHIGH 29 81 110 0 84 84 Cosmic_Gene C C A C C TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 83449 16 72162670 72162670 80 AML relapse snv ZNF208 missense T1211I NM_007153 20-PANGDN ZNF208 MISSENSE SNP Somatic 5 0.190 SQHIGH 11 27 38 1 48 49 Cosmic_Gene G G A G G TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 7757 19 22154204 22154204 35 AML relapse snv ABCG1 missense D608G NM_016818 20-PANGDN ABCG1 MISSENSE SNP Somatic 2 0.138 SQHIGH 19 64 83 0 55 55 Cosmic_Gene A A G A A TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 9619 21 43716324 43716324 46 AML diagnosis snv NRAS missense G13D NM_002524 20-PANGDN NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 20 1.000 SQHIGH 17 15 32 0 38 38 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 4893 1 115258744 115258744 71 AML diagnosis snv ACVR1C missense A163V NM_145259 20-PANGDN ACVR1C INTRON,MISSENSE SNP Somatic 3 0.141 SQHIGH 19 32 51 1 37 38 Cosmic_Gene G G A G G TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 130399 2 158412661 158412661 43 AML diagnosis snv ALPPL2 missense E437K NM_031313 20-PANGDN ALPPL2 MISSENSE SNP Somatic -10 0.040 SQHIGH 4 24 28 0 34 34 Cosmic_Gene G G A G G TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 251 2 233274292 233274292 14 AML diagnosis snv STPG2 missense Y2N NM_174952 20-PANGDN STPG2 MISSENSE SNP Somatic 4 0.158 SQHIGH 9 12 21 0 29 29 A A T A A TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 285555 4 99064298 99064298 39 AML diagnosis snv PLIN2 missense P214L NM_001122 20-PANGDN PLIN2 MISSENSE,UTR SNP Somatic PFAM:PF03036:Perilipin -10 0.040 SQHIGH 6 10 16 0 11 11 Cosmic_Gene G G A G G TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 123 9 19119784 19119784 16 AML diagnosis snv ABL1 missense A991T NM_005157 20-PANGDN ABL1 MISSENSE SNP Somatic PFAM:PF08919:F_actin_bind 9 0.299 SQHIGH 15 20 35 0 35 35 Cosmic_Gene G G A G G TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 25 9 133760648 133760648 53 AML diagnosis snv PPRC1 silent S1086S NM_015062 20-PANGDN PPRC1 SYNONYMOUS SNP Somatic -9 0.044 SQHIGH 7 28 35 0 46 46 Cosmic_Gene T T A T T TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 23082 10 103901523 103901523 27 AML diagnosis snv BCL9L silent L795L NM_182557 20-PANGDN BCL9L SYNONYMOUS SNP Somatic -5 0.062 SQHIGH 4 9 13 0 27 27 Cosmic_Gene G G A G G TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 283149 11 118772069 118772069 21 AML diagnosis snv ZNF208 missense T1211I NM_007153 20-PANGDN ZNF208 MISSENSE SNP Somatic 13 0.510 SQHIGH 25 21 46 1 48 49 Cosmic_Gene G G A G G TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 7757 19 22154204 22154204 86 AML diagnosis snv TBC1D17 splice_region S176_E6splice_region NM_024682 20-PANGDN AKT1S1|TBC1D17 TSS-UPSTREAM|ACCEPTOR SNP Somatic 8 0.265 SQHIGH 22 30 52 0 65 65 C C T C C TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 84335|79735 19 50385288 50385288 91 AML diagnosis mnv PPRC1 nonsense A1087_E1088>A* NM_015062 20-PANGDN PPRC1 NONSENSE Sub Somatic -5 0.334 SQHIGH 7 27 34 0 44 44 Cosmic_Gene TG TG AT TG TG TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 23082 10 103901526 103901527 27 AML diagnosis mnv DYNC1H1 missense S2038_L2039>SW NM_001376 20-PANGDN DYNC1H1 MISSENSE Sub Somatic -29 0.037 4 12 16 0 17 17 Cosmic_Gene CTT CTT TTG CTT CTT TARGET-20-PANGDN-09A-03D TARGET-20-PANGDN-14A-02D 1778 14 102476316 102476318 14 AML diagnosis snv CENPF missense E2807D NM_016343 20-PANGJY CENPF MISSENSE SNP Somatic -2 0.087 SQHIGH 8 32 40 0 31 31 Cosmic_Gene G G T G G TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 1063 1 214828682 214828682 21 AML diagnosis snv RBM28 missense S459G NM_018077 20-PANGJY RBM28 MISSENSE SNP Somatic -10 0.045 SQHIGH 5 19 24 0 22 22 Cosmic_Gene T T C T T TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 55131 7 127963609 127963609 15 AML diagnosis snv PTCH1 missense G1163S NM_000264 20-PANGJY PTCH1 MISSENSE SNP dbsnp.132:rs113663584 Somatic 8 0.233 SQHIGH 20 38 58 0 52 52 Cosmic_Gene C C T C C TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 5727 9 98212185 98212185 64 AML diagnosis snv CST6 splice_region E122_E2splice_region NM_001323 20-PANGJY CST6 INTRON SNP Somatic 2 0.128 SQHIGH 9 7 16 0 15 15 Cosmic_Gene C C T C C TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 1474 11 65780430 65780430 32 AML diagnosis snv KCNA5 silent F165F NM_002234 20-PANGJY KCNA5 SYNONYMOUS SNP Somatic PFAM:PF00651:BTB 2 0.128 SQHIGH 15 22 37 1 42 43 Cosmic_Gene C C T C C TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 3741 12 5153808 5153808 48 AML diagnosis snv FLT3 missense S451F NM_004119 20-PANGJY FLT3 MISSENSE SNP Somatic 3 0.140 SQHIGH 5 13 18 0 31 31 Cosmic_Gene G G A G G TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 2322 13 28610138 28610138 23 AML diagnosis snv SALL2 missense R711Q NM_005407 20-PANGJY SALL2 MISSENSE SNP Somatic 6 0.189 SQHIGH 11 8 19 0 35 35 Cosmic_Gene C C T C C TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 6297 14 21991730 21991730 61 AML diagnosis snv ATP6V0C silent I132I NM_001694 20-PANGJY AMDHD2|ATP6V0C TSS-UPSTREAM|SYNONYMOUS SNP dbsnp.134:rs143553028 Somatic PFAM:PF00137:ATP-synt_C 0 0.106 SQHIGH 5 17 22 0 20 20 Cosmic_Gene C C T C C TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 51005|527 16 2569674 2569674 15 AML diagnosis snv ATP6V0C silent L133L NM_001694 20-PANGJY AMDHD2|ATP6V0C TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF00137:ATP-synt_C 0 0.106 SQHIGH 5 18 23 0 23 23 Cosmic_Gene G G C G G TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 51005|527 16 2569677 2569677 16 AML diagnosis snv PITPNM3 missense C125R NM_031220 20-PANGJY PITPNM3 MISSENSE SNP Somatic 4 0.154 SQHIGH 6 30 36 0 20 20 Cosmic_Gene A A G A A TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 83394 17 6387051 6387051 12 AML diagnosis snv ARHGAP44 missense V494I NM_014859 20-PANGJY ARHGAP44 MISSENSE SNP Somatic -6 0.063 SQHIGH 6 19 25 0 33 33 Cosmic_Gene G G A G G TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 9912 17 12862171 12862171 24 AML diagnosis snv XDH missense T662I NM_000379 20-PANGTF XDH MISSENSE SNP Somatic PFAM:PF01315:Ald_Xan_dh_C 12 0.484 SQHIGH 33 41 74 1 90 91 Cosmic_Gene G G A G G TARGET-20-PANGTF-09A-02D TARGET-20-PANGTF-14A-01D 7498 2 31591522 31591522 123 AML diagnosis snv MPHOSPH10 missense K189Q NM_005791 20-PANGTF MCEE|MPHOSPH10 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF04006:Mpp10 -9 0.062 SQHIGH 6 23 29 0 27 27 Cosmic_Gene A A C A A TARGET-20-PANGTF-09A-02D TARGET-20-PANGTF-14A-01D 84693|10199 2 71360503 71360503 18 AML diagnosis snv PLBD1-AS1 EXON E23_exon NM_004963 20-PANGTF GUCY2C INTRON SNP Somatic -8 0.067 SQHIGH 7 36 43 1 60 61 Cosmic_Gene T T A T T TARGET-20-PANGTF-09A-02D TARGET-20-PANGTF-14A-01D 2984 12 14772280 14772280 21 AML diagnosis snv PXN silent P381P NM_002859 20-PANGTF PXN SYNONYMOUS SNP Somatic 8 0.303 SQHIGH 24 29 53 0 54 54 Cosmic_Gene C C T C C TARGET-20-PANGTF-09A-02D TARGET-20-PANGTF-14A-01D 5829 12 120652661 120652661 88 AML diagnosis snv ANXA2 silent L139L NM_001002858 20-PANGTF ANXA2 SYNONYMOUS SNP Somatic PFAM:PF00191:Annexin 16 0.770 SQHIGH 20 29 49 0 45 45 Cosmic_Gene G G A G G TARGET-20-PANGTF-09A-02D TARGET-20-PANGTF-14A-01D 302 15 60649432 60649432 67 AML diagnosis snv SPAG9 missense V934M NM_001130528 20-PANGTF SPAG9 MISSENSE SNP Somatic 12 0.484 SQHIGH 17 24 41 0 50 50 Cosmic_Gene C C T C C TARGET-20-PANGTF-09A-02D TARGET-20-PANGTF-14A-01D 9043 17 49067051 49067051 69 AML diagnosis snv SLC39A6 silent L235L NM_012319 20-PANGTF ELP2|SLC39A6 TSS-UPSTREAM|SYNONYMOUS,INTRON SNP Somatic -10 0.057 SQHIGH 6 23 29 1 31 32 Cosmic_Gene G G A G G TARGET-20-PANGTF-09A-02D TARGET-20-PANGTF-14A-01D 55250|25800 18 33706268 33706268 14 AML diagnosis snv RBCK1 silent V135V NM_006462 20-PANGTF RBCK1 SYNONYMOUS SNP Somatic 10 0.380 SQHIGH 17 18 35 0 39 39 C C T C C TARGET-20-PANGTF-09A-02D TARGET-20-PANGTF-14A-01D 10616 20 400061 400061 67 AML diagnosis snv CPS1 missense S814I NM_001122633 20-PANHYK CPS1 MISSENSE SNP Somatic 4 0.173 SQHIGH 7 18 25 0 22 22 Cosmic_Gene G G T G G TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 1373 2 211476872 211476872 21 AML diagnosis snv PTMA splice G72_E4splice NM_001099285 20-PANHYK PTMA|MIR1244-1 DISRUPT|TSS-UPSTREAM SNP Somatic 9 0.297 SQHIGH 24 42 66 2 88 90 A A G A A TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 5757|100302285 2 232577151 232577151 80 AML diagnosis snv JAKMIP1 splice_region L208_E3splice_region NM_001099433 20-PANHYK JAKMIP1 INTRON SNP dbsnp.132:rs112014940 Somatic -4 0.084 SQHIGH 12 21 33 0 31 31 Cosmic_Gene C C T C C TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 152789 4 6107190 6107190 40 AML diagnosis snv TNRC18P1 EXON E13_exon NM_015130 20-PANHYK TBC1D9 INTRON SNP Somatic -7 0.066 SQHIGH 4 20 24 0 30 30 Cosmic_Gene G G C G G TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 23158 4 141563000 141563000 15 AML diagnosis snv PTPN12 missense S503P NM_002835 20-PANHYK PTPN12 MISSENSE SNP Somatic -35 0.002 8 43 51 1 56 57 Cosmic_Gene T T C T T TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 5782 7 77256503 77256503 20 AML diagnosis snv SMC3 missense L932P NM_005445 20-PANHYK SMC3 MISSENSE SNP Somatic 10 0.334 SQHIGH 9 16 25 1 30 31 Cosmic_Gene T T C T T TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 9126 10 112361545 112361545 27 AML diagnosis snv CFAP46 missense P2278L NM_001200049 20-PANHYK CFAP46 MISSENSE SNP dbsnp.134:rs148109095 Somatic 15 0.644 SQHIGH 19 28 47 1 48 49 G G A G G TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 54777 10 134648191 134648191 58 AML diagnosis snv ALG10B missense F251Y NM_001013620 20-PANHYK ALG10B MISSENSE SNP Somatic PFAM:PF04922:DIE2_ALG10 -7 0.066 SQHIGH 4 27 31 0 37 37 Cosmic_Gene T T A T T TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 144245 12 38714345 38714345 14 AML diagnosis snv ACAD10 missense M892R NM_001136538 20-PANHYK ACAD10 MISSENSE SNP Somatic PFAM:PF02770:Acyl-CoA_dh_M 0 0.120 SQHIGH 6 25 31 1 37 38 Cosmic_Gene T T G T T TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 80724 12 112186217 112186217 15 AML diagnosis snv HOXB3 missense A393V NM_002146 20-PANHYK HOXB3 MISSENSE SNP Somatic 1 0.131 SQHIGH 7 19 26 0 25 25 G G A G G TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 3213 17 46627814 46627814 22 AML diagnosis snv KCNC3 missense R366C NM_004977 20-PANHYK KCNC3 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 9 0.297 SQHIGH 21 38 59 0 76 76 Cosmic_Gene G G A G G TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 3748 19 50827114 50827114 86 AML diagnosis snv ZIM2 missense H217N NM_015363 20-PANHYK ZIM2 MISSENSE SNP Somatic 4 0.173 SQHIGH 23 50 73 0 93 93 Cosmic_Gene G G T G G TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 23619 19 57290838 57290838 92 AML diagnosis snv LARGE-AS1 EXON E3_exon NM_004737 20-PANHYK LOC100506195|LARGE UTR|INTRON SNP dbsnp.132:rs80002515 Somatic 1 0.131 SQHIGH 6 30 36 0 43 43 Cosmic_Gene G G A G G TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 100506195|9215 22 34142427 34142427 22 AML diagnosis mnv XXYLT1 missense A94G NM_152531 20-PANHYK XXYLT1 MISSENSE Sub Somatic -10 0.254 SQHIGH 4 6 10 0 22 22 GG GG TC GG GG TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 152002 3 194991506 194991507 22 AML diagnosis snv TTN missense E652D NM_133378 20-PANINI TTN MISSENSE SNP Somatic PFAM:PF09042:Titin_Z 0 0.109 SQHIGH 11 20 31 0 28 28 Cosmic_Gene C C G C C TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 7273 2 179654207 179654207 35 AML diagnosis snv GATA2 missense L321P NM_001145661 20-PANINI GATA2 MISSENSE SNP Somatic 1 0.120 SQHIGH 9 48 57 0 65 65 Cosmic_Gene A A G A A TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 2624 3 128202758 128202758 31 AML diagnosis snv SKIL silent T222T NM_005414 20-PANINI SKIL SYNONYMOUS SNP Somatic PFAM:PF02437:Ski_Sno 12 0.399 SQHIGH 11 28 39 1 48 49 Cosmic_Gene A A G A A TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 6498 3 170078785 170078785 34 AML diagnosis snv DHX15 missense S164F NM_001358 20-PANINI DHX15 MISSENSE SNP Somatic 12 0.399 SQHIGH 15 29 44 0 59 59 Cosmic_Gene G G A G G TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 1665 4 24577882 24577882 62 AML diagnosis snv VCAN missense T3025M NM_004385 20-PANINI VCAN INTRON,MISSENSE SNP Somatic 9 0.274 SQHIGH 21 19 40 1 44 45 Cosmic_Gene C C T C C TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 1462 5 82837896 82837896 73 AML diagnosis snv TAS2R38 missense S317G NM_176817 20-PANINI TAS2R38 MISSENSE SNP Somatic 2 0.131 SQHIGH 18 12 30 0 31 31 Cosmic_Gene T T C T T TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 5726 7 141672541 141672541 72 AML diagnosis snv PRKAG2 missense T357I NM_016203 20-PANINI PRKAG2 MISSENSE SNP Somatic 16 0.704 SQHIGH 15 16 31 0 32 32 Cosmic_Gene G G A G G TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 51422 7 151267293 151267293 56 AML diagnosis snv CDK9 missense A361T NM_001261 20-PANINI CDK9 MISSENSE SNP Somatic 8 0.245 SQHIGH 6 16 22 0 20 20 Cosmic_Gene G G A G G TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 1025 9 130551784 130551784 18 AML diagnosis snv KLHL36 missense R460H NM_024731 20-PANINI KLHL36 MISSENSE SNP Somatic PFAM:PF01344:Kelch_1 13 0.457 SQHIGH 20 20 40 0 53 53 Cosmic_Gene G G A G G TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 79786 16 84695267 84695267 89 AML diagnosis snv EP300 missense C1164Y NM_001429 20-PANINI EP300 MISSENSE SNP Somatic PFAM:PF06001:DUF902 6 0.196 SQHIGH 17 37 54 0 68 68 Cosmic_Gene G G A G G TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 2033 22 41553402 41553402 67 AML diagnosis snv ATP13A2 missense V465A NM_022089 20-PANJGR ATP13A2 MISSENSE SNP Somatic PFAM:PF00122:E1-E2_ATPase 2 0.127 SQHIGH 6 29 35 1 38 39 Cosmic_Gene A A G A A TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 23400 1 17322619 17322619 14 AML diagnosis snv SNED1 silent R232R NM_001080437 20-PANJGR SNED1 SYNONYMOUS SNP Somatic PFAM:PF06119:NIDO -1 0.096 SQHIGH 4 11 15 0 20 20 Cosmic_Gene C C A C C TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 25992 2 241974038 241974038 16 AML diagnosis snv HLA-DRB5 missense Y61H NM_002125 20-PANJGR HLA-DRB5 MISSENSE SNP dbsnp.134:rs137863146 Somatic PFAM:PF00969:MHC_II_beta -6 0.065 SQHIGH 4 24 28 0 31 31 A A G A A TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 3127 6 32489871 32489871 13 AML diagnosis snv KCNT1 silent A897A NM_020822 20-PANJGR KCNT1 SYNONYMOUS SNP dbsnp.134:rs142642528 Somatic 7 0.214 SQHIGH 14 27 41 0 43 43 Cosmic_Gene G G A G G TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 57582 9 138670630 138670630 50 AML diagnosis snv SLC25A22 missense R252Q NM_024698 20-PANJGR SLC25A22|CEND1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00153:Mito_carr -5 0.070 SQHIGH 4 8 12 1 24 25 C C T C C TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 79751|51286 11 792205 792205 15 AML diagnosis snv DNHD1 missense S2593F NM_144666 20-PANJGR DNHD1 MISSENSE SNP Somatic 17 0.821 SQHIGH 18 19 37 1 29 30 Cosmic_Gene C C T C C TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 144132 11 6578303 6578303 46 AML diagnosis snv MIS18BP1 nonsense S9* NM_018353 20-PANJGR MIS18BP1 NONSENSE SNP dbsnp.134:rs139783125 Somatic 13 0.446 SQHIGH 8 17 25 0 38 38 G G C G G TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 55320 14 45716464 45716464 36 AML diagnosis snv GPR179 missense P1663S NM_001004334 20-PANJGR GPR179 MISSENSE SNP Somatic 7 0.214 SQHIGH 22 37 59 0 52 52 Cosmic_Gene G G A G G TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 440435 17 36484465 36484465 70 AML diagnosis snv PNPLA6 splice_region P247_E7splice_region NM_001166111 20-PANJGR PNPLA6 DONOR SNP Somatic -8 0.055 SQHIGH 4 10 14 0 25 25 Cosmic_Gene A A G A A TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 10908 19 7605198 7605198 19 AML diagnosis snv BPI nonsense R198* NM_001725 20-PANJGR BPI NONSENSE SNP Somatic 13 0.446 SQHIGH 35 29 64 0 77 77 Cosmic_Gene C C T C C TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 671 20 36940319 36940319 151 AML diagnosis mnv AMFR missense C197_C198>AI NM_001144 20-PANJGR AMFR MISSENSE Sub Somatic -6 0.319 SQHIGH 7 29 36 1 45 46 Cosmic_Gene CAGCA CAGCA ATGGC CAGCA CAGCA TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 267 16 56441949 56441953 19 AML diagnosis snv RNF186 silent A156A NM_019062 20-PANKFG RNF186 SYNONYMOUS SNP Somatic -6 0.061 SQHIGH 5 14 19 0 14 14 G G T G G TARGET-20-PANKFG-09A-03D TARGET-20-PANKFG-14A-02D 54546 1 20141127 20141127 13 AML diagnosis snv TRIM33 splice_region S753_E14splice_region NM_015906 20-PANKFG TRIM33 ACCEPTOR SNP Somatic 12 0.401 SQHIGH 8 20 28 1 26 27 Cosmic_Gene T T G T T TARGET-20-PANKFG-09A-03D TARGET-20-PANKFG-14A-02D 51592 1 114949727 114949727 18 AML diagnosis snv NBAS silent S2250S NM_015909 20-PANKFG NBAS SYNONYMOUS SNP Somatic -7 0.056 SQHIGH 4 26 30 0 41 41 Cosmic_Gene G G A G G TARGET-20-PANKFG-09A-03D TARGET-20-PANKFG-14A-02D 51594 2 15319202 15319202 15 AML diagnosis snv GALNT5 silent E454E NM_014568 20-PANKFG GALNT5 SYNONYMOUS SNP Somatic -3 0.076 SQHIGH 10 54 64 1 47 48 Cosmic_Gene G G A G G TARGET-20-PANKFG-09A-03D TARGET-20-PANKFG-14A-02D 11227 2 158115956 158115956 18 AML diagnosis snv LPHN3 missense R296Q NM_015236 20-PANKFG LPHN3 MISSENSE SNP Somatic PFAM:PF02191:OLF 17 0.844 SQHIGH 20 29 49 1 64 65 Cosmic_Gene G G A G G TARGET-20-PANKFG-09A-03D TARGET-20-PANKFG-14A-02D 23284 4 62598964 62598964 74 AML diagnosis snv POLB missense D314Y NM_002690 20-PANKFG POLB MISSENSE SNP Somatic 10 0.307 SQHIGH 14 32 46 0 50 50 Cosmic_Gene G G T G G TARGET-20-PANKFG-09A-03D TARGET-20-PANKFG-14A-02D 5423 8 42229107 42229107 50 AML diagnosis snv FLT3 missense V491L NM_004119 20-PANKFG FLT3 MISSENSE SNP Somatic -22 0.011 6 44 50 0 73 73 Cosmic_Gene C C A C C TARGET-20-PANKFG-09A-03D TARGET-20-PANKFG-14A-02D 2322 13 28609758 28609758 24 AML diagnosis snv ANKRD12 missense R751G NM_015208 20-PANKFG ANKRD12 MISSENSE SNP Somatic 11 0.348 SQHIGH 15 32 47 1 27 28 Cosmic_Gene C C G C C TARGET-20-PANKFG-09A-03D TARGET-20-PANKFG-14A-02D 23253 18 9255516 9255516 26 AML diagnosis mnv TRIM33 splice_region S753_E14splice_region NM_015906 20-PANKFG TRIM33 ACCEPTOR Sub Somatic -6 0.304 SQHIGH 8 24 32 1 29 30 Cosmic_Gene GA GA AC GA GA TARGET-20-PANKFG-09A-03D TARGET-20-PANKFG-14A-02D 51592 1 114949730 114949731 18 AML diagnosis snv CNTN3 silent V221V NM_020872 20-PANKFZ CNTN3 SYNONYMOUS SNP Somatic 16 0.635 SQHIGH 19 19 38 0 34 34 Cosmic_Gene C C A C C TARGET-20-PANKFZ-09A-02D TARGET-20-PANKFZ-14A-02D 5067 3 74419138 74419138 65 AML diagnosis snv GLCCI1 silent T456T NM_138426 20-PANKFZ GLCCI1 SYNONYMOUS SNP Somatic 4 0.144 SQHIGH 14 35 49 0 44 44 C C T C C TARGET-20-PANKFZ-09A-02D TARGET-20-PANKFZ-14A-02D 113263 7 8125892 8125892 43 AML diagnosis snv MUC5B missense P214L NM_002458 20-PANKFZ MUC5B MISSENSE SNP Somatic PFAM:PF00094:VWD -1 0.090 SQHIGH 6 11 17 1 27 28 C C T C C TARGET-20-PANKFZ-09A-02D TARGET-20-PANKFZ-14A-02D 727897 11 1248602 1248602 21 AML diagnosis snv KRAS missense G13D NM_033360 20-PANKFZ KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic 8 0.219 SQHIGH 7 22 29 0 29 29 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-20-PANKFZ-09A-02D TARGET-20-PANKFZ-14A-02D 3845 12 25398281 25398281 23 AML diagnosis snv ATP7B missense A1203S NM_000053 20-PANKFZ ATP7B MISSENSE SNP Somatic 12 0.354 SQHIGH 15 27 42 0 46 46 Cosmic_Gene C C A C C TARGET-20-PANKFZ-09A-02D TARGET-20-PANKFZ-14A-02D 540 13 52513279 52513279 55 AML diagnosis snv NRAS missense G13R NM_002524 20-PANKKE NRAS MISSENSE SNP dbsnp.132:rs121434595 Somatic 10 0.315 SQHIGH 16 31 47 0 39 39 COSMIC:mut:569 Cosmic_Gene C C G C C TARGET-20-PANKKE-09A-03D TARGET-20-PANKKE-14A-02D 4893 1 115258745 115258745 48 AML diagnosis snv HSPA8 missense D206G NM_006597 20-PANKKE SNORD14C|HSPA8|SNORD14D|SNORD14E|LOC100652787 TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic -21 0.011 6 38 44 1 48 49 COSMIC:mut:42683 Cosmic_Gene T T C T T TARGET-20-PANKKE-09A-03D TARGET-20-PANKKE-14A-02D 85389|3312|85390|85391|100652787 11 122930684 122930684 14 AML diagnosis snv NRAS missense Q61R NM_002524 20-PANKNB NRAS MISSENSE SNP dbsnp.120:rs11554290 Somatic 2 0.132 SQHIGH 5 18 23 0 26 26 COSMIC:mut:584 Cosmic_Gene T T C T T TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 4893 1 115256529 115256529 18 AML diagnosis snv TTC7A silent L165L NM_020458 20-PANKNB TTC7A SYNONYMOUS SNP Somatic -5 0.067 SQHIGH 4 15 19 0 28 28 Cosmic_Gene G G A G G TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 57217 2 47184124 47184124 17 AML diagnosis snv CXCR2 missense R288H NM_001557 20-PANKNB CXCR2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 3 0.144 SQHIGH 24 17 41 1 44 45 Cosmic_Gene G G A G G TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 3579 2 219000387 219000387 86 AML diagnosis snv CHRM2 silent V231V NM_001006630 20-PANKNB CHRM2 SYNONYMOUS SNP Somatic 9 0.273 SQHIGH 16 28 44 0 53 53 Cosmic_Gene T T C T T TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 1129 7 136700305 136700305 63 AML diagnosis snv AGK missense D94G NM_018238 20-PANKNB AGK MISSENSE SNP Somatic PFAM:PF00781:DAGK_cat 13 0.454 SQHIGH 16 29 45 0 28 28 Cosmic_Gene A A G A A TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 55750 7 141301064 141301064 39 AML diagnosis snv JMJD1C missense P1381H NM_032776 20-PANKNB JMJD1C MISSENSE SNP Somatic -6 0.062 SQHIGH 4 17 21 0 33 33 Cosmic_Gene G G T G G TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 221037 10 64967287 64967287 17 AML diagnosis snv DNAAF2 missense V141I NM_018139 20-PANKNB DNAAF2 MISSENSE SNP Somatic PFAM:PF08190:PIH1 -9 0.048 SQHIGH 10 5 15 0 8 8 C C T C C TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 55172 14 50101447 50101447 26 AML diagnosis snv DHX8 missense Y853H NM_004941 20-PANKNB DHX8 MISSENSE SNP Somatic PFAM:PF00485:PRK 7 0.217 SQHIGH 10 26 36 0 22 22 Cosmic_Gene T T C T T TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 1659 17 41590784 41590784 23 AML relapse snv ELTD1 missense S418F NM_022159 20-PANLIR ELTD1 MISSENSE SNP Somatic PFAM:PF01825:GPS 1 0.111 SQHIGH 9 37 46 0 36 36 Cosmic_Gene G G A G G TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 64123 1 79387302 79387302 24 AML relapse snv INSRR silent P263P NM_014215 20-PANLIR NTRK1|INSRR INTRON|SYNONYMOUS SNP dbsnp.134:rs138142163 Somatic PFAM:PF00757:Furin-like -40 0.000 3 22 25 0 50 50 COSMIC:mut:20746 Cosmic_Gene C C T C C TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 4914|3645 1 156821832 156821832 15 AML relapse snv GATA2 missense G320D NM_001145661 20-PANLIR GATA2 MISSENSE SNP Somatic 14 0.526 SQHIGH 19 26 45 0 64 64 Cosmic_Gene C C T C C TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 2624 3 128202761 128202761 85 AML relapse snv PPAPDC3 missense G243S NM_032728 20-PANLIR PPAPDC3 MISSENSE SNP Somatic -4 0.070 SQHIGH 11 42 53 0 79 79 Cosmic_Gene G G A G G TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 84814 9 134183585 134183585 47 AML relapse snv TMEM210 missense P27S NM_001282477 20-PANLIR LRRC26|MIR3621|TMEM210 TSS-UPSTREAM|TSS-UPSTREAM|UTR SNP Somatic 7 0.210 SQHIGH 8 23 31 0 47 47 G G A G G TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 389816|100500811|100505993 9 140066401 140066401 35 AML relapse snv MUC2 missense P1855A NM_002457 20-PANLIR MUC2 MISSENSE SNP Somatic 7 0.210 SQHIGH 28 71 99 0 93 93 Cosmic_Gene C C G C C TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 4583 11 1093756 1093756 90 AML relapse snv CUX2 missense E182K NM_015267 20-PANLIR CUX2 MISSENSE SNP Somatic 7 0.210 SQHIGH 23 61 84 0 78 78 Cosmic_Gene G G A G G TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 23316 12 111731357 111731357 73 AML relapse snv LRFN5 missense V589M NM_152447 20-PANLIR LRFN5 MISSENSE SNP Somatic 12 0.391 SQHIGH 13 28 41 0 43 43 Cosmic_Gene G G A G G TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 145581 14 42360832 42360832 46 AML diagnosis snv CLCN6 missense R233Q NM_001286 20-PANLIR CLCN6 MISSENSE SNP Somatic 0 0.101 SQHIGH 11 57 68 0 67 67 G G A G G TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 1185 1 11886262 11886262 35 AML diagnosis snv CSF3R missense T618I NM_000760 20-PANLIR MRPS15|CSF3R TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.212 SQHIGH 12 31 43 1 46 47 Cosmic_Gene G G A G G TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 64960|1441 1 36933434 36933434 33 AML diagnosis snv ELTD1 missense S418F NM_022159 20-PANLIR ELTD1 MISSENSE SNP Somatic PFAM:PF01825:GPS 17 0.842 SQHIGH 12 20 32 0 36 36 Cosmic_Gene G G A G G TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 64123 1 79387302 79387302 45 AML diagnosis snv NRAS missense Q61K NM_002524 20-PANLIR NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 1 0.111 SQHIGH 6 18 24 0 20 20 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 4893 1 115256530 115256530 17 AML diagnosis snv LOC101929237 EXON E3_exon NM_144962 20-PANLIR PEBP4 INTRON SNP Somatic 0 0.101 SQHIGH 6 19 25 0 17 17 Cosmic_Gene C C T C C TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 157310 8 22744450 22744450 15 AML diagnosis snv TMEM210 missense P27S NM_001282477 20-PANLIR LRRC26|MIR3621|TMEM210 TSS-UPSTREAM|TSS-UPSTREAM|UTR SNP Somatic 12 0.396 SQHIGH 22 17 39 0 47 47 G G A G G TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 389816|100500811|100505993 9 140066401 140066401 95 AML diagnosis snv LRFN5 missense V589M NM_152447 20-PANLIR LRFN5 MISSENSE SNP Somatic 20 0.999 SQHIGH 15 22 37 0 43 43 Cosmic_Gene G G A G G TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 145581 14 42360832 42360832 59 AML diagnosis snv TTBK2 missense T1163M NM_173500 20-PANLIR TTBK2 MISSENSE SNP Somatic 13 0.454 SQHIGH 8 17 25 1 37 38 Cosmic_Gene G G A G G TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 146057 15 43038240 43038240 27 AML diagnosis snv WDR45 missense L220P NM_007075 20-PANLIR PRAF2|WDR45 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00400:WD40 18 0.886 SQHIGH 22 1 23 0 21 21 Cosmic_Gene A G A TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 11230|11152 X 48933273 48933273 110 AML relapse snv TRIM62 silent T154T NM_018207 20-PANLIZ TRIM62 SYNONYMOUS SNP Somatic 12 0.415 SQHIGH 19 30 49 0 34 34 G G A G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 55223 1 33631114 33631114 51 AML relapse snv ZCCHC11 missense P1639Q NM_001009881 20-PANLIZ ZCCHC11 MISSENSE SNP Somatic 3 0.143 SQHIGH 5 10 15 0 28 28 Cosmic_Gene G G T G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 23318 1 52889629 52889629 25 AML relapse snv SLC44A3 silent G358G NM_001114106 20-PANLIZ SLC44A3 SYNONYMOUS SNP Somatic PFAM:PF04515:Choline_transpo 9 0.285 SQHIGH 15 34 49 0 51 51 Cosmic_Gene A A C A A TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 126969 1 95322892 95322892 52 AML relapse snv NOTCH2 missense R1886H NM_024408 20-PANLIZ NOTCH2 MISSENSE SNP Somatic 7 0.227 SQHIGH 16 27 43 0 27 27 Cosmic_Gene C C T C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 4853 1 120462059 120462059 40 AML relapse snv FLG missense H2170P NM_002016 20-PANLIZ FLG MISSENSE SNP Somatic 6 0.204 SQHIGH 20 37 57 0 63 63 Cosmic_Gene T T G T T TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 2312 1 152280853 152280853 74 AML relapse snv EFEMP1 missense V253I NM_001039348 20-PANLIZ EFEMP1 MISSENSE SNP dbsnp.134:rs142542256 Somatic 11 0.364 SQHIGH 11 20 31 0 22 22 Cosmic_Gene C C T C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 2202 2 56104884 56104884 30 AML relapse snv KCNIP3 silent A212A NM_013434 20-PANLIZ KCNIP3 SYNONYMOUS SNP Somatic 9 0.285 SQHIGH 15 29 44 1 38 39 Cosmic_Gene G G A G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 30818 2 96048205 96048205 37 AML relapse snv ZNF385D-AS1 EXON E2_exon NM_024697 20-PANLIZ ZNF385D INTRON SNP Somatic 13 0.477 SQHIGH 11 21 32 0 23 23 Cosmic_Gene C C T C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 79750 3 21621352 21621352 30 AML relapse snv OR5H14 silent S103S NM_001005514 20-PANLIZ OR5H14 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 4 0.159 SQHIGH 29 47 76 0 62 62 Cosmic_Gene G G A G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 403273 3 97868538 97868538 88 AML relapse snv TRH missense R119G NM_007117 20-PANLIZ TRH MISSENSE SNP Somatic PFAM:PF05438:TRH 6 0.204 SQHIGH 24 30 54 0 53 53 Cosmic_Gene C C G C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 7200 3 129695685 129695685 86 AML relapse snv IL3 silent T131T NM_000588 20-PANLIZ IL3 SYNONYMOUS SNP Somatic PFAM:PF02059:IL3 5 0.181 SQHIGH 20 47 67 0 53 53 Cosmic_Gene G G A G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 3562 5 131398418 131398418 57 AML relapse snv HIST1H2BB missense A10T NM_021062 20-PANLIZ HIST1H3C|HIST1H2BB TSS-UPSTREAM|MISSENSE SNP Somatic 0 0.108 SQHIGH 20 33 53 0 27 27 Cosmic_Gene C C T C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 8352|3018 6 26043858 26043858 42 AML relapse snv NUGGC missense A495V NM_001010906 20-PANLIZ NUGGC MISSENSE SNP Somatic 7 0.227 SQHIGH 12 36 48 0 39 39 Cosmic_Gene G G A G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 389643 8 27898695 27898695 34 AML relapse snv FAM135B missense R719Q NM_015912 20-PANLIZ FAM135B MISSENSE SNP Somatic 7 0.227 SQHIGH 23 44 67 0 61 61 Cosmic_Gene C C T C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 51059 8 139164562 139164562 74 AML relapse snv SMARCA2 silent R1270R NM_003070 20-PANLIZ SMARCA2 SYNONYMOUS SNP Somatic 17 0.870 SQHIGH 16 23 39 0 35 35 Cosmic_Gene G G A G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 6595 9 2123766 2123766 53 AML relapse snv DAPK1 silent V1148V NM_004938 20-PANLIZ DAPK1 SYNONYMOUS SNP Somatic 10 0.320 SQHIGH 17 32 49 0 48 48 Cosmic_Gene C C T C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 1612 9 90321430 90321430 58 AML relapse snv ZNF510 missense C406S NM_014930 20-PANLIZ ZNF510 MISSENSE SNP Somatic 13 0.477 SQHIGH 19 28 47 0 60 60 C C G C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 22869 9 99521895 99521895 79 AML relapse snv PPP1R26 silent P568P NM_014811 20-PANLIZ PPP1R26 SYNONYMOUS SNP Somatic 1 0.117 SQHIGH 12 19 31 0 27 27 Cosmic_Gene G G A G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 9858 9 138378060 138378060 38 AML relapse snv VIM missense D463N NM_003380 20-PANLIZ VIM MISSENSE SNP Somatic 14 0.555 SQHIGH 14 16 30 0 28 28 Cosmic_Gene G G A G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 7431 10 17279256 17279256 48 AML relapse snv NOC3L splice R4_E2splice NM_022451 20-PANLIZ NOC3L DISRUPT SNP Somatic 6 0.204 SQHIGH 16 44 60 0 62 62 Cosmic_Gene T T C T T TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 64318 10 96121631 96121631 54 AML relapse snv CCND2 missense T280A NM_001759 20-PANLIZ CCND2 MISSENSE SNP Somatic 2 0.130 SQHIGH 9 25 34 0 40 40 Cosmic_Gene A A G A A TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 894 12 4409143 4409143 33 AML relapse snv NR1H4 silent S63S NM_005123 20-PANLIZ NR1H4 SYNONYMOUS SNP Somatic 15 0.679 SQHIGH 13 21 34 1 36 37 Cosmic_Gene G G A G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 9971 12 100904665 100904665 38 AML relapse snv MMP14 missense R576C NM_004995 20-PANLIZ MMP14 MISSENSE SNP Somatic PFAM:PF11857:DUF3377 -6 0.062 SQHIGH 15 21 36 0 28 28 C C T C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 4323 14 23315225 23315225 45 AML relapse snv SRCAP missense D731Y NM_006662 20-PANLIZ SRCAP MISSENSE SNP Somatic PFAM:PF00176:SNF2_N 10 0.320 SQHIGH 16 29 45 0 45 45 Cosmic_Gene G G T G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 10847 16 30724589 30724589 55 AML relapse snv TTC25 splice_region E153_E4splice_region NM_031421 20-PANLIZ TTC25 INTRON SNP Somatic 5 0.181 SQHIGH 18 41 59 0 59 59 Cosmic_Gene C C T C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 83538 17 40092795 40092795 61 AML relapse snv RPTOR silent A410A NM_020761 20-PANLIZ RPTOR SYNONYMOUS SNP Somatic 3 0.143 SQHIGH 21 22 43 0 52 52 Cosmic_Gene C C G C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 57521 17 78820290 78820290 88 AML relapse snv RAX2 missense E21G NM_032753 20-PANLIZ RAX2 MISSENSE SNP Somatic -8 0.052 SQHIGH 6 40 46 1 52 53 T T C T T TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 84839 19 3771679 3771679 14 AML relapse snv EEF2 silent A364A NM_001961 20-PANLIZ EEF2 SYNONYMOUS SNP Somatic 7 0.227 SQHIGH 9 11 20 0 26 26 G G T G G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 1938 19 3980897 3980897 38 AML relapse snv ELAVL1 missense R53Q NM_001419 20-PANLIZ ELAVL1 MISSENSE SNP Somatic 9 0.285 SQHIGH 12 35 47 0 62 62 C C T C C TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 1994 19 8056542 8056542 48 AML diagnosis snv CFAP74 missense A737V NM_001080484 20-PANLIZ CFAP74 MISSENSE SNP Somatic 13 0.481 SQHIGH 9 22 31 0 33 33 Cosmic_Gene G G A G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 85452 1 1887096 1887096 31 AML diagnosis snv TAS1R2 missense F808L NM_152232 20-PANLIZ TAS1R2 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 11 0.369 SQHIGH 15 30 45 1 54 55 Cosmic_Gene G G T G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 80834 1 19166189 19166189 48 AML diagnosis snv LRRC8B silent P88P NM_015350 20-PANLIZ LRRC8B SYNONYMOUS SNP Somatic -10 0.045 SQHIGH 4 36 40 0 44 44 Cosmic_Gene G G T G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 23507 1 90048473 90048473 13 AML diagnosis snv CIB4 missense E119D NM_001029881 20-PANLIZ CIB4 MISSENSE SNP Somatic 8 0.259 SQHIGH 8 41 49 2 62 64 Cosmic_Gene C C A C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 130106 2 26806738 26806738 18 AML diagnosis snv KCNIP3 silent A212A NM_013434 20-PANLIZ KCNIP3 SYNONYMOUS SNP Somatic 10 0.325 SQHIGH 9 19 28 1 38 39 Cosmic_Gene G G A G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 30818 2 96048205 96048205 29 AML diagnosis snv COL4A4 missense G1103R NM_000092 20-PANLIZ COL4A4 MISSENSE SNP Somatic 5 0.185 SQHIGH 22 40 62 0 61 61 Cosmic_Gene C C T C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 1286 2 227907883 227907883 75 AML diagnosis snv ZNF385D-AS1 EXON E2_exon NM_024697 20-PANLIZ ZNF385D INTRON SNP Somatic 12 0.419 SQHIGH 11 21 32 0 23 23 Cosmic_Gene C C T C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 79750 3 21621352 21621352 30 AML diagnosis snv OR5H14 silent S103S NM_001005514 20-PANLIZ OR5H14 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 8 0.259 SQHIGH 29 33 62 0 62 62 Cosmic_Gene G G A G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 403273 3 97868538 97868538 106 AML diagnosis snv TRH missense R119G NM_007117 20-PANLIZ TRH MISSENSE SNP Somatic PFAM:PF05438:TRH -3 0.082 SQHIGH 8 41 49 0 53 53 Cosmic_Gene C C G C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 7200 3 129695685 129695685 27 AML diagnosis snv FCHSD1 missense R423Q NM_033449 20-PANLIZ FCHSD1 MISSENSE SNP Somatic 13 0.481 SQHIGH 11 23 34 0 34 34 Cosmic_Gene C C T C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 89848 5 141025381 141025381 37 AML diagnosis snv GPR151 missense N79I NM_194251 20-PANLIZ GPR151 MISSENSE SNP Somatic 4 0.162 SQHIGH 11 32 43 2 45 47 Cosmic_Gene T T A T T TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 134391 5 145895441 145895441 24 AML diagnosis snv HIST1H2BB missense A10T NM_021062 20-PANLIZ HIST1H3C|HIST1H2BB TSS-UPSTREAM|MISSENSE SNP Somatic -1 0.099 SQHIGH 21 30 51 0 27 27 Cosmic_Gene C C T C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 8352|3018 6 26043858 26043858 47 AML diagnosis snv ABCF1 splice P677P NM_001025091 20-PANLIZ ABCF1 SYNONYMOUS SNP Somatic -3 0.082 SQHIGH 8 16 24 0 34 34 Cosmic_Gene G G A G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 23 6 30554488 30554488 34 AML diagnosis snv TSC1 nonsense R500* NM_000368 20-PANLIZ TSC1 NONSENSE SNP dbsnp.132:rs118203537 Somatic PFAM:PF04388:Hamartin -9 0.048 SQHIGH 6 28 34 0 38 38 Cosmic_Gene G G A G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 7248 9 135781467 135781467 21 AML diagnosis snv OR4N5 missense R290H NM_001004724 20-PANLIZ OR4N5 MISSENSE SNP dbsnp.119:rs10141025 Somatic 2 0.133 SQHIGH 11 42 53 0 37 37 Cosmic_Gene G G A G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 390437 14 20612763 20612763 27 AML diagnosis snv PRKD1 nonsense Y154* NM_002742 20-PANLIZ PRKD1 NONSENSE SNP Somatic 8 0.259 SQHIGH 16 23 39 0 20 20 Cosmic_Gene G G T G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 5587 14 30135356 30135356 35 AML diagnosis snv POMT2 missense R475C NM_013382 20-PANLIZ POMT2 MISSENSE SNP Somatic 15 0.672 SQHIGH 31 33 64 0 76 76 Cosmic_Gene G G A G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 29954 14 77751885 77751885 128 AML diagnosis snv TTC25 splice_region E153_E4splice_region NM_031421 20-PANLIZ TTC25 INTRON SNP Somatic -3 0.082 SQHIGH 9 46 55 0 59 59 Cosmic_Gene C C T C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 83538 17 40092795 40092795 30 AML diagnosis snv RPTOR silent A410A NM_020761 20-PANLIZ RPTOR SYNONYMOUS SNP Somatic 3 0.146 SQHIGH 17 22 39 0 52 52 Cosmic_Gene C C G C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 57521 17 78820290 78820290 74 AML diagnosis snv ELAVL1 missense R53Q NM_001419 20-PANLIZ ELAVL1 MISSENSE SNP Somatic 5 0.185 SQHIGH 17 36 53 0 62 62 C C T C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 1994 19 8056542 8056542 64 AML diagnosis snv ZNF527 missense A359V NM_032453 20-PANLIZ ZNF527 MISSENSE SNP Somatic 14 0.557 SQHIGH 11 28 39 1 59 60 Cosmic_Gene C C T C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 84503 19 37880027 37880027 39 AML diagnosis snv PTPRA missense D237N NM_002836 20-PANLIZ PTPRA MISSENSE SNP Somatic 2 0.133 SQHIGH 13 45 58 0 60 60 Cosmic_Gene G G A G G TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 5786 20 2969091 2969091 43 AML diagnosis snv RAC2 missense G12R NM_002872 20-PANLIZ RAC2 MISSENSE SNP Somatic -3 0.082 SQHIGH 11 41 52 0 84 84 Cosmic_Gene C C T C C TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 5880 22 37640155 37640155 49 AML diagnosis complex ASXL2 frameshift K1259_T1260fs NM_018263 20-PANLIZ ASXL2 FRAMESHIFT Sub Somatic -4 0.365 SQHIGH 14 51 65 0 69 69 Cosmic_Gene GTC GTC GGTT GTC GTC TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 55252 2 25965427 25965429 47 AML diagnosis snv MACF1 splice Q1979_E41splice NM_012090 20-PANLJN MACF1 ACCEPTOR SNP Somatic -5 0.068 SQHIGH 6 43 49 0 37 37 Cosmic_Gene C C G C C TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 23499 1 39824810 39824810 15 AML diagnosis snv NRAS missense G12D NM_002524 20-PANLJN NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 0 0.107 SQHIGH 6 31 37 1 49 50 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 4893 1 115258747 115258747 17 AML diagnosis snv GLTSCR1L missense H489R NM_015349 20-PANLJN GLTSCR1L MISSENSE SNP Somatic 16 0.722 SQHIGH 27 37 64 1 54 55 Cosmic_Gene A A G A A TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 23506 6 42797537 42797537 75 AML diagnosis snv RIPPLY2 missense E118K NM_001009994 20-PANLJN CYB5R4|RIPPLY2 TSS-UPSTREAM|MISSENSE SNP Somatic 2 0.128 SQHIGH 10 8 18 0 14 14 Cosmic_Gene G G A G G TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 51167|134701 6 84567073 84567073 32 AML diagnosis snv COL4A1 splice G1248_E42splice NM_001845 20-PANLJN COL4A1 DISRUPT SNP Somatic 15 0.648 SQHIGH 16 23 39 0 39 39 Cosmic_Gene C C G C C TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 1282 13 110822893 110822893 57 AML diagnosis snv NOB1 silent G321G NM_014062 20-PANLJN NOB1 SYNONYMOUS SNP Somatic PFAM:PF08772:NOB1_Zn_bind -9 0.050 SQHIGH 6 21 27 0 29 29 G G C G G TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 28987 16 69778782 69778782 20 AML diagnosis snv FOXJ1 missense S207G NM_001454 20-PANLJN LOC100507218|FOXJ1 TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.059 SQHIGH 4 24 28 0 35 35 Cosmic_Gene T T C T T TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 100507218|2302 17 74134081 74134081 15 AML diagnosis snv EVI5L missense R772G NM_001159944 20-PANLJN EVI5L MISSENSE SNP Somatic -7 0.059 SQHIGH 5 18 23 0 34 35 Cosmic_Gene C C G C C TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 115704 19 7928484 7928484 21 AML diagnosis snv DNTTIP1 nonsense Q112* NM_052951 20-PANLJN WFDC3|DNTTIP1 TSS-UPSTREAM|NONSENSE SNP Somatic 16 0.722 SQHIGH 22 22 44 0 39 39 Cosmic_Gene C C T C C TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 140686|116092 20 44424044 44424044 75 AML diagnosis snv FER1L5 silent T575T NM_001293083 20-PANLKB FER1L5 SYNONYMOUS SNP Somatic -2 0.101 SQHIGH 11 34 45 2 40 42 Cosmic_Gene C C T C C TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 90342 2 97350119 97350119 20 AML diagnosis snv LZTFL1 silent R167R NM_020347 20-PANLKB LZTFL1 SYNONYMOUS SNP Somatic 1 0.133 SQHIGH 8 24 32 0 22 22 C C T C C TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 54585 3 45872586 45872586 20 AML diagnosis snv RPL19P12 EXON E1_exon NM_001122838 20-PANLKB RPL19P12|NAPEPLD UTR|INTRON SNP Somatic -4 0.085 SQHIGH 10 46 56 1 60 61 Cosmic_Gene C C G C C TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 100129424|222236 7 102781790 102781790 26 AML diagnosis snv FGF6 silent I9I NM_020996 20-PANLKB FGF6 SYNONYMOUS SNP Somatic 12 0.434 SQHIGH 20 29 49 0 44 44 Cosmic_Gene G G A G G TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 2251 12 4554710 4554710 66 AML diagnosis snv PARPBP silent V513V NM_017915 20-PANLKB PARPBP SYNONYMOUS SNP Somatic -3 0.092 SQHIGH 6 17 23 0 31 31 G G A G G TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 55010 12 102589868 102589868 24 AML diagnosis snv FLT3 missense Y589H NM_004119 20-PANLKB FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 6 0.220 SQHIGH 16 56 72 0 66 66 Cosmic_Gene A A G A A TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 2322 13 28608291 28608291 49 AML diagnosis snv UBR1 silent V1166V NM_174916 20-PANLKB UBR1 SYNONYMOUS SNP Somatic -2 0.101 SQHIGH 5 36 41 0 38 38 Cosmic_Gene C C A C C TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 197131 15 43296046 43296046 15 AML diagnosis snv MYO18A missense K687T NM_078471 20-PANLKB MYO18A MISSENSE SNP Somatic -3 0.092 SQHIGH 8 36 44 2 50 52 T T G T T TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 399687 17 27442849 27442849 16 AML diagnosis snv COL18A1 missense G78D NM_030582 20-PANLKB COL18A1 INTRON,MISSENSE SNP Somatic PFAM:PF06121:DUF959 -2 0.101 SQHIGH 8 35 43 0 30 30 Cosmic_Gene G G A G G TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 80781 21 46875677 46875677 20 AML diagnosis snv RANGAP1 silent V490V NM_002883 20-PANLKB RANGAP1 SYNONYMOUS SNP Somatic PFAM:PF07834:RanGAP1_C 3 0.159 SQHIGH 14 62 76 2 72 74 C C T C C TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 5905 22 41647024 41647024 28 AML diagnosis mnv NUDT22 missense L303_*304>AL NM_032344 20-PANLKB TRPT1|DNAJC4|NUDT22|LOC100653007|VEGFB TSS-UPSTREAM|TSS-UPSTREAM|NONSTOP|INTRON|TSS-UPSTREAM Sub Somatic -9 0.296 SQHIGH 10 71 81 1 71 72 CTCTG CTCTG GCCCT CTCTG CTCTG TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 83707|3338|84304|100653007|7423 11 63997457 63997461 21 AML diagnosis mnv RANGAP1 missense A489E NM_002883 20-PANLKB RANGAP1 MISSENSE Sub Somatic PFAM:PF07834:RanGAP1_C -10 0.281 SQHIGH 15 64 79 2 73 75 TG TG CT TG TG TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 5905 22 41647027 41647028 30 AML relapse snv CMYA5 missense E1952A NM_153610 20-PANLLX CMYA5 MISSENSE SNP Somatic -4 0.085 SQHIGH 6 52 58 0 60 60 Cosmic_Gene A A C A A TARGET-20-PANLLX-04A-01D TARGET-20-PANLLX-14A-01D 202333 5 79030443 79030443 19 AML relapse snv CMYA5 missense E3208Q NM_153610 20-PANLLX CMYA5 MISSENSE SNP Somatic -1 0.112 SQHIGH 8 41 49 1 49 50 Cosmic_Gene G G C G G TARGET-20-PANLLX-04A-01D TARGET-20-PANLLX-14A-01D 202333 5 79034210 79034210 18 AML relapse complex SCN4A frameshift L590_N591fs NM_000334 20-PANLLX SCN4A FRAMESHIFT Sub Somatic -9 0.288 SQHIGH 7 36 43 1 42 43 Cosmic_Gene TTGA TTGA TGGGC TTGA TTGA TARGET-20-PANLLX-04A-01D TARGET-20-PANLLX-14A-01D 6329 17 62038626 62038629 15 AML diagnosis snv LOC102724552 EXON E12_exon NM_012102 20-PANLLX RERE INTRON,TSS-UPSTREAM SNP Somatic -1 0.112 SQHIGH 7 22 29 0 30 30 Cosmic_Gene C C A C C TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 473 1 8484708 8484708 23 AML diagnosis snv RIT1 missense F82C NM_006912 20-PANLLX RIT1 MISSENSE SNP Somatic -2 0.101 SQHIGH 11 56 67 0 68 68 Cosmic_Gene A A C A A TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 6016 1 155874286 155874286 35 AML diagnosis snv CNTNAP5 missense V528F NM_130773 20-PANLLX CNTNAP5 MISSENSE SNP Somatic 0 0.124 SQHIGH 8 35 43 0 35 35 Cosmic_Gene G G T G G TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 129684 2 125284969 125284969 22 AML diagnosis snv KLHL30 missense N443K NM_198582 20-PANLLX KLHL30 MISSENSE SNP Somatic 13 0.584 SQHIGH 11 18 29 0 27 27 C C A C C TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 377007 2 239056653 239056653 36 AML diagnosis snv MAGI1 nonsense R1213* NM_015520 20-PANLLX MAGI1 NONSENSE SNP Somatic -1 0.112 SQHIGH 9 40 49 1 45 46 Cosmic_Gene G G A G G TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 9223 3 65346955 65346955 20 AML diagnosis snv AQPEP missense I551V NM_173800 20-PANLLX AQPEP MISSENSE SNP Somatic 9 0.364 SQHIGH 25 39 64 0 58 58 A A G A A TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 206338 5 115336767 115336767 82 AML diagnosis snv KCNB2 missense F633I NM_004770 20-PANLLX KCNB2 MISSENSE SNP Somatic PFAM:PF03521:Kv2channel 6 0.254 SQHIGH 19 61 80 1 64 65 Cosmic_Gene T T A T T TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 9312 8 73849487 73849487 43 AML diagnosis snv MUC5B missense R987C NM_002458 20-PANLLX MUC5B MISSENSE SNP Somatic PFAM:PF00094:VWD -4 0.085 SQHIGH 13 62 75 0 81 81 C C T C C TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 727897 11 1257694 1257694 44 AML diagnosis snv ZNF729 missense M1036T NM_001242680 20-PANLLX ZNF729 MISSENSE SNP Somatic -34 0.002 4 32 36 0 39 39 COSMIC:mut:86252 Cosmic_Gene T T C T T TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 100287226 19 22499326 22499326 13 AML diagnosis snv FITM2 missense D151G NM_001080472 20-PANLLX FITM2 MISSENSE SNP Somatic PFAM:PF10261:Scs3p 9 0.364 SQHIGH 8 33 41 0 54 54 Cosmic_Gene T T C T T TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 128486 20 42935602 42935602 31 AML diagnosis snv ZBTB21 silent S460S NM_001098402 20-PANLLX ZBTB21 SYNONYMOUS SNP Somatic 9 0.364 SQHIGH 8 21 29 0 33 33 Cosmic_Gene C C G C C TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 49854 21 43412825 43412825 29 AML diagnosis snv KRTAP10-5 missense C205S NM_198694 20-PANLLX TSPEAR|KRTAP10-5 INTRON|MISSENSE SNP Somatic 0 0.124 SQHIGH 7 16 23 0 14 14 Cosmic_Gene A A T A A TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 54084|386680 21 45999843 45999843 16 AML diagnosis snv MYO18B silent K1687K NM_032608 20-PANLLX MYO18B SYNONYMOUS SNP Somatic PFAM:PF01576:Myosin_tail_1 7 0.288 SQHIGH 24 32 56 0 54 54 Cosmic_Gene G G A G G TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 84700 22 26299711 26299711 84 AML relapse snv AIDA splice_region G236_E8splice_region NM_022831 20-PANLXM AIDA DONOR SNP Somatic 7 0.261 SQHIGH 13 17 30 1 30 31 C C T C C TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 64853 1 222846650 222846650 38 AML relapse snv TNIP3 splice_region K71_E3splice_region NM_024873 20-PANLXM TNIP3 INTRON SNP Somatic 0 0.121 SQHIGH 8 36 44 1 48 49 Cosmic_Gene G G A G G TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 79931 4 122079834 122079834 20 AML relapse snv PCDHB5 missense P360L NM_015669 20-PANLXM PCDHB5 MISSENSE SNP Somatic 7 0.261 SQHIGH 13 32 45 0 40 40 Cosmic_Gene C C T C C TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 26167 5 140516095 140516095 40 AML relapse snv ZNF354B silent S171S NM_058230 20-PANLXM ZNF354B SYNONYMOUS SNP Somatic -2 0.097 SQHIGH 6 15 21 0 19 19 Cosmic_Gene A A T A A TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 117608 5 178309966 178309966 18 AML relapse snv EPB41L4B missense R366Q NM_018424 20-PANLXM EPB41L4B MISSENSE SNP Somatic -4 0.080 SQHIGH 4 23 27 0 48 48 Cosmic_Gene C C T C C TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 54566 9 112017863 112017863 18 AML relapse snv OR52A1 missense E54V NM_012375 20-PANLXM OR52A1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -2 0.097 SQHIGH 12 47 59 0 52 52 Cosmic_Gene T T A T T TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 23538 11 5173439 5173439 35 AML relapse snv KRAS missense G12D NM_033360 20-PANLXM KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic -11 0.044 5 19 24 0 29 29 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 3845 12 25398284 25398284 18 AML relapse snv ALPK3 silent G1022G NM_020778 20-PANLXM ALPK3 SYNONYMOUS SNP Somatic 2 0.148 SQHIGH 29 51 80 1 87 88 Cosmic_Gene G G C G G TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 57538 15 85400429 85400429 95 AML relapse snv CELF4 silent P406P NM_020180 20-PANLXM CELF4 SYNONYMOUS SNP dbsnp.131:rs78311159 Somatic 11 0.422 SQHIGH 10 26 36 0 34 34 Cosmic_Gene C C T C C TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 56853 18 34844668 34844668 32 AML relapse snv ADSL missense I265M NM_000026 20-PANLXM ADSL MISSENSE SNP Somatic 12 0.478 SQHIGH 17 30 47 2 65 67 Cosmic_Gene T T G T T TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 158 22 40757279 40757279 55 AML diagnosis snv FRRS1 missense S113T NM_001013660 20-PANLXM FRRS1 MISSENSE SNP Somatic -4 0.084 SQHIGH 3 16 19 0 37 37 Cosmic_Gene A A T A A TARGET-20-PANLXM-09A-02D TARGET-20-PANLXM-14A-01D 391059 1 100207826 100207826 15 AML diagnosis snv DRD1 silent D314D NM_000794 20-PANLXM DRD1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 15 0.725 SQHIGH 14 25 39 0 53 53 Cosmic_Gene G G A G G TARGET-20-PANLXM-09A-02D TARGET-20-PANLXM-14A-01D 1812 5 174869161 174869161 59 AML diagnosis snv ZNF354B silent S171S NM_058230 20-PANLXM ZNF354B SYNONYMOUS SNP Somatic 4 0.191 SQHIGH 7 7 14 0 19 19 Cosmic_Gene A A T A A TARGET-20-PANLXM-09A-02D TARGET-20-PANLXM-14A-01D 117608 5 178309966 178309966 31 AML diagnosis snv ALPK3 silent G1022G NM_020778 20-PANLXM ALPK3 SYNONYMOUS SNP Somatic 12 0.506 SQHIGH 40 36 76 1 87 88 Cosmic_Gene G G C G G TARGET-20-PANLXM-09A-02D TARGET-20-PANLXM-14A-01D 57538 15 85400429 85400429 152 AML diagnosis snv GSE1 missense P671L NM_014615 20-PANLXM GSE1 MISSENSE SNP Somatic -29 0.006 7 23 30 0 32 32 Cosmic_Gene C C T C C TARGET-20-PANLXM-09A-02D TARGET-20-PANLXM-14A-01D 23199 16 85695123 85695123 24 AML diagnosis snv CDH15 silent L189L NM_004933 20-PANLXM CDH15 SYNONYMOUS SNP Somatic -7 0.065 SQHIGH 8 37 45 1 40 41 Cosmic_Gene G G C G G TARGET-20-PANLXM-09A-02D TARGET-20-PANLXM-14A-01D 1013 16 89251645 89251645 17 AML diagnosis snv CELF4 silent P406P NM_020180 20-PANLXM CELF4 SYNONYMOUS SNP dbsnp.131:rs78311159 Somatic 15 0.725 SQHIGH 15 12 27 0 34 34 Cosmic_Gene C C T C C TARGET-20-PANLXM-09A-02D TARGET-20-PANLXM-14A-01D 56853 18 34844668 34844668 66 AML diagnosis snv ZNF880 missense A442G NM_001145434 20-PANLXM ZNF880 MISSENSE SNP Somatic 0 0.127 SQHIGH 8 38 46 1 45 46 C C G C C TARGET-20-PANLXM-09A-02D TARGET-20-PANLXM-14A-01D 400713 19 52888158 52888158 18 AML diagnosis snv ADSL missense I265M NM_000026 20-PANLXM ADSL MISSENSE SNP Somatic 15 0.725 SQHIGH 27 31 58 2 65 67 Cosmic_Gene T T G T T TARGET-20-PANLXM-09A-02D TARGET-20-PANLXM-14A-01D 158 22 40757279 40757279 86 AML diagnosis snv SPATA17 missense R254C NM_138796 20-PANMEM SPATA17 MISSENSE SNP dbsnp.134:rs145142638 Somatic 11 0.361 SQHIGH 12 11 23 1 21 22 Cosmic_Gene C C T C C TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 128153 1 217955552 217955552 34 AML diagnosis snv TRANK1 missense E1280G NM_014831 20-PANMEM TRANK1 MISSENSE SNP Somatic -4 0.079 SQHIGH 12 55 67 0 34 34 Cosmic_Gene T T C T T TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 9881 3 36897242 36897242 23 AML diagnosis snv TRA2A silent G224G NM_013293 20-PANMEM TRA2A SYNONYMOUS SNP Somatic -23 0.013 8 42 50 0 30 30 Cosmic_Gene G G A G G TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 29896 7 23545855 23545855 17 AML diagnosis snv KIAA1045 missense R281C NM_015297 20-PANMEM KIAA1045 MISSENSE SNP Somatic 2 0.139 SQHIGH 13 13 26 1 30 31 Cosmic_Gene C C T C C TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 23349 9 34976729 34976729 44 AML diagnosis snv ARHGEF12 splice R986C NM_015313 20-PANMEM ARHGEF12 MISSENSE SNP Somatic 15 0.618 SQHIGH 13 21 34 0 37 37 Cosmic_Gene C C T C C TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 23365 11 120343759 120343759 48 AML diagnosis snv PLEKHG7 missense M151T NM_001004330 20-PANMEM PLEKHG7 MISSENSE SNP Somatic -5 0.073 SQHIGH 6 23 29 1 37 38 Cosmic_Gene T T C T T TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 440107 12 93148002 93148002 16 AML diagnosis snv DUOX1 nonsense E1499* NM_017434 20-PANMEM DUOX1 NONSENSE SNP Somatic PFAM:PF00175:NAD_binding_1 -1 0.104 SQHIGH 6 39 45 0 58 58 Cosmic_Gene G G T G G TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 53905 15 45456078 45456078 22 AML diagnosis snv HERC1 missense S1194G NM_003922 20-PANMEM HERC1 MISSENSE SNP Somatic -7 0.063 SQHIGH 5 16 21 0 18 18 Cosmic_Gene T T C T T TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 8925 15 64015543 64015543 15 AML diagnosis snv DNAH9 missense R1979H NM_001372 20-PANMEM DNAH9 MISSENSE SNP Somatic PFAM:PF12774:AAA_6 -1 0.104 SQHIGH 19 25 44 1 27 28 Cosmic_Gene G G A G G TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 1770 17 11642318 11642318 39 AML diagnosis snv ZNF524 silent G77G NM_153219 20-PANMEM ZNF524|FIZ1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 4 0.168 SQHIGH 10 33 43 0 22 22 C C G C C TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 147807|84922 19 56113709 56113709 20 AML diagnosis mnv AMBRA1 missense T572_Q573>KK NM_017749 20-PANMEM AMBRA1 MISSENSE Sub Somatic -6 0.406 SQHIGH 5 31 36 0 34 34 Cosmic_Gene GGG GGG TTT GGG GGG TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 55626 11 46563580 46563582 15 AML diagnosis snv KIAA1522 missense R510W NM_020888 20-PANNHB KIAA1522 INTRON,MISSENSE SNP Somatic -10 0.050 SQHIGH 4 21 25 0 43 43 C C T C C TARGET-20-PANNHB-09A-03D TARGET-20-PANNHB-14A-01D 57648 1 33236308 33236308 18 AML diagnosis snv IGSF8 missense T588A NM_052868 20-PANNHB IGSF8 MISSENSE SNP Somatic 10 0.418 SQHIGH 15 27 42 1 62 63 T T C T T TARGET-20-PANNHB-09A-03D TARGET-20-PANNHB-14A-01D 93185 1 160061693 160061693 57 AML diagnosis snv MEP1A silent H165H NM_005588 20-PANNHB MEP1A SYNONYMOUS SNP Somatic PFAM:PF01400:Astacin -9 0.055 SQHIGH 10 45 55 0 48 48 Cosmic_Gene C C T C C TARGET-20-PANNHB-09A-03D TARGET-20-PANNHB-14A-01D 4224 6 46787380 46787380 29 AML diagnosis snv MAP3K11 silent D408D NM_002419 20-PANNHB MAP3K11 SYNONYMOUS SNP Somatic -7 0.066 SQHIGH 10 43 53 0 64 64 Cosmic_Gene G G A G G TARGET-20-PANNHB-09A-03D TARGET-20-PANNHB-14A-01D 4296 11 65375133 65375133 37 AML diagnosis snv DHRS4L2 missense A13T NM_198083 20-PANNHB DHRS4L2 INTRON,MISSENSE SNP Somatic 5 0.234 SQHIGH 22 28 50 0 41 41 Cosmic_Gene G G A G G TARGET-20-PANNHB-09A-03D TARGET-20-PANNHB-14A-01D 317749 14 24458193 24458193 69 AML diagnosis snv CDC27 missense Y234S NM_001114091 20-PANNHB CDC27 MISSENSE SNP dbsnp.131:rs78493795 Somatic -9 0.055 SQHIGH 6 14 20 0 22 22 Cosmic_Gene T T G T T TARGET-20-PANNHB-09A-03D TARGET-20-PANNHB-14A-01D 996 17 45234420 45234420 21 AML diagnosis snv JAK3 missense A573V NM_000215 20-PANNHB JAK3 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr -10 0.050 SQHIGH 5 33 38 0 45 45 Cosmic_Gene G G A G G TARGET-20-PANNHB-09A-03D TARGET-20-PANNHB-14A-01D 3718 19 17948006 17948006 18 AML diagnosis snv ELFN2 silent A449A NM_052906 20-PANNHB ELFN2 SYNONYMOUS SNP Somatic 5 0.234 SQHIGH 20 36 56 0 63 63 Cosmic_Gene G G A G G TARGET-20-PANNHB-09A-03D TARGET-20-PANNHB-14A-01D 114794 22 37770228 37770228 75 AML diagnosis snv NRAS missense G12D NM_002524 20-PANNJI NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -20 0.015 7 33 40 0 47 47 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 4893 1 115258747 115258747 25 AML diagnosis snv LOC101928372 EXON E6_exon NM_080878 20-PANNJI ITLN2 INTRON SNP Somatic -3 0.080 SQHIGH 6 24 30 0 21 21 Cosmic_Gene C C T C C TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 142683 1 160918953 160918953 15 AML diagnosis snv ZRANB3 missense S692L NM_032143 20-PANNJI ZRANB3 MISSENSE SNP Somatic 5 0.184 SQHIGH 8 7 15 0 19 19 Cosmic_Gene G G A G G TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 84083 2 135985465 135985465 35 AML diagnosis snv MUC17 missense T1861M NM_001040105 20-PANNJI MUC17 MISSENSE SNP dbsnp.134:rs147735350 Somatic -9 0.047 SQHIGH 5 41 46 0 48 48 Cosmic_Gene C C T C C TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 140453 7 100680279 100680279 16 AML diagnosis snv SHANK2-AS1 EXON E14_exon NM_012309 20-PANNJI SHANK2 INTRON SNP Somatic -6 0.061 SQHIGH 11 48 59 0 57 57 Cosmic_Gene C C A C C TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 22941 11 70481503 70481503 34 AML diagnosis snv KRAS missense G12D NM_033360 20-PANNJI KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic -21 0.012 4 35 39 0 34 34 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 3845 12 25398284 25398284 11 AML diagnosis snv OR4K1 missense A119G NM_001004063 20-PANNJI OR4K1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.234 SQHIGH 37 50 87 0 85 85 Cosmic_Gene C C G C C TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 79544 14 20404181 20404181 131 AML diagnosis snv FOXA1 silent P71P NM_004496 20-PANNJI FOXA1 SYNONYMOUS SNP Somatic PFAM:PF08430:Fork_head_N -3 0.080 SQHIGH 10 31 41 0 31 31 C C T C C TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 3169 14 38061776 38061776 27 AML diagnosis snv CCDC154 silent T566T NM_001143980 20-PANNJI CCDC154 SYNONYMOUS SNP Somatic -6 0.061 SQHIGH 7 12 19 0 17 17 C C T C C TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 645811 16 1484848 1484848 22 AML diagnosis snv DSCAM silent G773G NM_001389 20-PANNJI DSCAM SYNONYMOUS SNP Somatic 12 0.440 SQHIGH 41 20 61 1 33 34 Cosmic_Gene G G A G G TARGET-20-PANNJI-09A-04D TARGET-20-PANNJI-14A-02D 1826 21 41648061 41648061 99 AML diagnosis snv C7 missense S504G NM_000587 20-PANPKN C7 MISSENSE SNP Somatic -4 0.077 SQHIGH 9 33 42 2 42 44 A A G A A TARGET-20-PANPKN-09A-03D TARGET-20-PANPKN-14A-02D 730 5 40959571 40959571 17 AML diagnosis snv FAM46B missense R325H NM_052943 20-PANPLS FAM46B MISSENSE SNP Somatic PFAM:PF07984:DUF1693 3 0.138 SQHIGH 11 37 48 0 39 39 Cosmic_Gene C C T C C TARGET-20-PANPLS-03A-05D TARGET-20-PANPLS-14A-02D 115572 1 27332739 27332739 31 AML diagnosis snv ZNF76 missense V549A NM_003427 20-PANPLS ZNF76|DEF6 MISSENSE|TSS-UPSTREAM SNP Somatic 2 0.126 SQHIGH 6 21 27 1 29 30 T T C T T TARGET-20-PANPLS-03A-05D TARGET-20-PANPLS-14A-02D 7629|50619 6 35262958 35262958 14 AML diagnosis snv PLEKHG6 silent R677R NM_018173 20-PANPLS PLEKHG6 SYNONYMOUS SNP Somatic -7 0.057 SQHIGH 10 53 63 0 69 69 Cosmic_Gene A A G A A TARGET-20-PANPLS-03A-05D TARGET-20-PANPLS-14A-02D 55200 12 6436780 6436780 34 AML diagnosis snv ALPK2 missense E572V NM_052947 20-PANPLS ALPK2 MISSENSE SNP Somatic -5 0.066 SQHIGH 4 20 24 0 32 32 Cosmic_Gene T T A T T TARGET-20-PANPLS-03A-05D TARGET-20-PANPLS-14A-02D 115701 18 56246293 56246293 15 AML diagnosis snv CD163L1 missense A1448T NM_174941 20-PANPTM CD163L1 MISSENSE SNP Somatic 7 0.232 SQHIGH 10 16 26 0 20 20 Cosmic_Gene C C T C C TARGET-20-PANPTM-09A-02D TARGET-20-PANPTM-14A-02D 283316 12 7510020 7510020 29 AML diagnosis snv KRT4 silent G504G NM_002272 20-PANPTM KRT4 SYNONYMOUS SNP Somatic -3 0.082 SQHIGH 9 60 69 1 50 51 Cosmic_Gene G G T G G TARGET-20-PANPTM-09A-02D TARGET-20-PANPTM-14A-02D 3851 12 53200904 53200904 16 AML diagnosis snv SBNO2 splice_region C569_E16splice_region NM_014963 20-PANPTM SBNO2 ACCEPTOR SNP Somatic 19 0.957 SQHIGH 20 18 38 0 30 30 C C T C C TARGET-20-PANPTM-09A-02D TARGET-20-PANPTM-14A-02D 22904 19 1116934 1116934 64 AML diagnosis snv PHACTR4 missense P343L NM_001048183 20-PANSBH PHACTR4 MISSENSE SNP Somatic 8 0.249 SQHIGH 24 37 61 0 52 52 C C T C C TARGET-20-PANSBH-09A-02D TARGET-20-PANSBH-14A-01D 65979 1 28800270 28800270 76 AML diagnosis snv SF3B1 missense M540I NM_012433 20-PANSBH SF3B1 MISSENSE SNP Somatic -5 0.064 SQHIGH 3 15 18 0 30 30 Cosmic_Gene C C A C C TARGET-20-PANSBH-09A-02D TARGET-20-PANSBH-14A-01D 23451 2 198268408 198268408 13 AML diagnosis snv ARHGAP11A silent E504E NM_014783 20-PANSBH ARHGAP11A SYNONYMOUS SNP Somatic -9 0.048 SQHIGH 5 22 27 0 49 49 Cosmic_Gene A A G A A TARGET-20-PANSBH-09A-02D TARGET-20-PANSBH-14A-01D 9824 15 32928486 32928486 24 AML diagnosis snv TPO silent P34P NM_000547 20-PANSJB TPO SYNONYMOUS SNP Somatic PFAM:PF03098:An_peroxidase 6 0.195 SQHIGH 12 34 46 0 34 34 Cosmic_Gene T T G T T TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 7173 2 1426824 1426824 32 AML diagnosis snv TMCC1 missense E11G NM_001017395 20-PANSJB TMCC1 INTRON,MISSENSE SNP Somatic -8 0.053 SQHIGH 4 22 26 0 33 33 Cosmic_Gene T T C T T TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 23023 3 129547190 129547190 15 AML diagnosis snv IQCE nonsense Q675* NM_001287499 20-PANSJB IQCE INTRON SNP Somatic -9 0.048 SQHIGH 6 15 21 1 23 24 C C T C C TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 23288 7 2646915 2646915 15 AML diagnosis snv PLCZ1 missense R197P NM_033123 20-PANSJB PLCZ1 MISSENSE SNP Somatic 0 0.108 SQHIGH 3 10 13 0 29 29 Cosmic_Gene C C G C C TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 89869 12 18865900 18865900 16 AML diagnosis snv POLR3E nonsense R353* NM_018119 20-PANSJB POLR3E NONSENSE SNP Somatic PFAM:PF04801:Sin_N -30 0.005 4 34 38 0 46 46 Cosmic_Gene C C T C C TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 55718 16 22334241 22334241 14 AML diagnosis snv DHRS7C missense A258V NM_001105571 20-PANSJB DHRS7C MISSENSE SNP Somatic 11 0.344 SQHIGH 24 23 47 0 40 40 G G A G G TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 201140 17 9674968 9674968 80 AML diagnosis snv EDN3 missense R158C NM_000114 20-PANSJB EDN3 MISSENSE SNP Somatic PFAM:PF00322:Endothelin 5 0.175 SQHIGH 13 24 37 0 33 33 Cosmic_Gene C C T C C TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 1908 20 57896178 57896178 41 AML diagnosis snv RPS19BP1 missense V86A NM_194326 20-PANSJB RPS19BP1 MISSENSE SNP Somatic 14 0.521 SQHIGH 17 13 30 0 31 31 A A G A A TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 91582 22 39925847 39925847 67 AML diagnosis snv PABPC5 silent A72A NM_080832 20-PANSJB PABPC5 SYNONYMOUS SNP Somatic 18 0.864 SQHIGH 18 3 21 0 20 20 Cosmic_Gene A T A TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 140886 X 90690792 90690792 82 AML relapse snv DDX1 silent T280T NM_004939 20-PANTNA DDX1 SYNONYMOUS SNP Somatic -4 0.084 SQHIGH 7 15 22 0 20 20 Cosmic_Gene A A G A A TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 1653 2 15747321 15747321 22 AML relapse snv DYSF silent L794L NM_001130987 20-PANTNA DYSF SYNONYMOUS SNP Somatic 5 0.221 SQHIGH 7 22 29 0 34 34 Cosmic_Gene C C G C C TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 8291 2 71789047 71789047 25 AML relapse snv TBR1 missense A119V NM_006593 20-PANTNA TBR1 MISSENSE SNP Somatic 0 0.128 SQHIGH 11 16 27 0 23 23 Cosmic_Gene C C T C C TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 10716 2 162273277 162273277 35 AML relapse snv BSN splice P3836P NM_003458 20-PANTNA BSN SYNONYMOUS SNP Somatic 0 0.128 SQHIGH 11 9 20 0 18 18 Cosmic_Gene G G A G G TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 8927 3 49701099 49701099 39 AML relapse snv GFI1B missense N290H NM_004188 20-PANTNA GFI1B MISSENSE SNP Somatic 13 0.566 SQHIGH 10 15 25 0 41 41 Cosmic_Gene A A C A A TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 8328 9 135866312 135866312 48 AML relapse snv ZBTB16 missense R28W NM_006006 20-PANTNA ZBTB16 MISSENSE SNP Somatic PFAM:PF00651:BTB -9 0.053 SQHIGH 4 21 25 0 33 33 Cosmic_Gene C C T C C TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 7704 11 113934104 113934104 15 AML relapse snv KMT2D silent Q3957Q NM_003482 20-PANTNA KMT2D SYNONYMOUS SNP Somatic -9 0.053 SQHIGH 4 16 20 0 23 23 Cosmic_Gene C C T C C TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 8085 12 49426617 49426617 14 AML relapse snv SERPINA12 silent I408I NM_173850 20-PANTNA SERPINA12 SYNONYMOUS SNP Somatic 8 0.318 SQHIGH 17 24 41 0 43 43 Cosmic_Gene A A G A A TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 145264 14 94953661 94953661 62 AML relapse snv FBN3 missense C1927S NM_032447 20-PANTNA FBN3 MISSENSE SNP Somatic -2 0.102 SQHIGH 5 35 40 0 35 35 Cosmic_Gene C C G C C TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 84467 19 8160264 8160264 14 AML relapse snv FBN3 missense N1926S NM_032447 20-PANTNA FBN3 MISSENSE SNP Somatic -2 0.102 SQHIGH 5 42 47 0 39 39 Cosmic_Gene T T C T T TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 84467 19 8160267 8160267 14 AML relapse snv BLCAP silent S78S NM_006698 20-PANTNA BLCAP|NNAT SYNONYMOUS|TSS-UPSTREAM SNP Somatic 9 0.355 SQHIGH 19 22 41 0 29 29 C C T C C TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 10904|4826 20 36147343 36147343 54 AML relapse snv MYO18B missense Y916N NM_032608 20-PANTNA MYO18B MISSENSE SNP Somatic 17 0.875 SQHIGH 22 26 48 0 55 55 Cosmic_Gene T T A T T TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 84700 22 26222426 26222426 87 AML relapse snv ATRX missense K1361E NM_000489 20-PANTNA ATRX MISSENSE SNP Somatic 18 0.916 SQHIGH 19 6 25 1 28 29 Cosmic_Gene T C T TARGET-20-PANTNA-04A-01D TARGET-20-PANTNA-14A-02D 546 X 76918910 76918910 78 AML diagnosis snv DDX1 silent T280T NM_004939 20-PANTNA DDX1 SYNONYMOUS SNP Somatic -4 0.085 SQHIGH 11 14 25 0 20 20 Cosmic_Gene A A G A A TARGET-20-PANTNA-09A-02D TARGET-20-PANTNA-14A-02D 1653 2 15747321 15747321 34 AML diagnosis snv DYSF silent L794L NM_001130987 20-PANTNA DYSF SYNONYMOUS SNP Somatic 14 0.644 SQHIGH 12 19 31 0 34 34 Cosmic_Gene C C G C C TARGET-20-PANTNA-09A-02D TARGET-20-PANTNA-14A-02D 8291 2 71789047 71789047 45 AML diagnosis snv TBR1 missense A119V NM_006593 20-PANTNA TBR1 MISSENSE SNP Somatic 0 0.130 SQHIGH 10 9 19 0 23 23 Cosmic_Gene C C T C C TARGET-20-PANTNA-09A-02D TARGET-20-PANTNA-14A-02D 10716 2 162273277 162273277 42 AML diagnosis snv ARHGEF12 missense D89H NM_015313 20-PANTNA ARHGEF12 MISSENSE SNP Somatic -2 0.104 SQHIGH 8 34 42 0 20 20 Cosmic_Gene G G C G G TARGET-20-PANTNA-09A-02D TARGET-20-PANTNA-14A-02D 23365 11 120291527 120291527 15 AML diagnosis snv SERPINA12 silent I408I NM_173850 20-PANTNA SERPINA12 SYNONYMOUS SNP Somatic 10 0.406 SQHIGH 19 12 31 0 43 43 Cosmic_Gene A A G A A TARGET-20-PANTNA-09A-02D TARGET-20-PANTNA-14A-02D 145264 14 94953661 94953661 92 AML diagnosis snv NPAP1 missense A455S NM_018958 20-PANTNA NPAP1 MISSENSE SNP Somatic -10 0.049 SQHIGH 8 54 62 1 57 58 Cosmic_Gene G G T G G TARGET-20-PANTNA-09A-02D TARGET-20-PANTNA-14A-02D 23742 15 24922377 24922377 17 AML diagnosis snv MYO18B missense Y916N NM_032608 20-PANTNA MYO18B MISSENSE SNP Somatic 15 0.718 SQHIGH 30 35 65 0 55 55 Cosmic_Gene T T A T T TARGET-20-PANTNA-09A-02D TARGET-20-PANTNA-14A-02D 84700 22 26222426 26222426 98 AML diagnosis snv ATRX missense K1361E NM_000489 20-PANTNA ATRX MISSENSE SNP Somatic 14 0.644 SQHIGH 14 2 16 1 28 29 Cosmic_Gene T C T TARGET-20-PANTNA-09A-02D TARGET-20-PANTNA-14A-02D 546 X 76918910 76918910 80 AML diagnosis snv GATA2 missense N317I NM_001145661 20-PANTPW GATA2 MISSENSE SNP Somatic 10 0.328 SQHIGH 13 33 46 1 71 72 Cosmic_Gene T T A T T TARGET-20-PANTPW-09A-03D TARGET-20-PANTPW-14A-02D 2624 3 128202770 128202770 48 AML diagnosis snv NUDCD3 silent K91K NM_015332 20-PANTPW NUDCD3 SYNONYMOUS SNP Somatic -7 0.067 SQHIGH 5 41 46 0 48 48 C C T C C TARGET-20-PANTPW-09A-03D TARGET-20-PANTPW-14A-02D 23386 7 44524803 44524803 16 AML diagnosis snv CDH23 missense C14G NM_001171935 20-PANTPW CDH23 INTRON,MISSENSE SNP Somatic 4 0.170 SQHIGH 5 23 28 0 26 26 Cosmic_Gene T T G T T TARGET-20-PANTPW-09A-03D TARGET-20-PANTPW-14A-02D 64072 10 73572088 73572088 15 AML diagnosis snv DNAH2 missense A316V NM_020877 20-PANTPW DNAH2 MISSENSE SNP dbsnp.134:rs140392785 Somatic PFAM:PF08385:DHC_N1 6 0.212 SQHIGH 12 30 42 2 49 51 Cosmic_Gene C C T C C TARGET-20-PANTPW-09A-03D TARGET-20-PANTPW-14A-02D 146754 17 7637995 7637995 30 AML diagnosis snv ALDH3A2 silent G190G NM_001031806 20-PANTPW ALDH3A2 SYNONYMOUS SNP Somatic -7 0.067 SQHIGH 8 23 31 1 31 32 Cosmic_Gene C C A C C TARGET-20-PANTPW-09A-03D TARGET-20-PANTPW-14A-02D 224 17 19559777 19559777 19 AML diagnosis snv KSR1 missense S99P NM_014238 20-PANTPW KSR1 MISSENSE SNP Somatic -7 0.067 SQHIGH 6 36 42 0 53 53 Cosmic_Gene T T C T T TARGET-20-PANTPW-09A-03D TARGET-20-PANTPW-14A-02D 8844 17 25909857 25909857 22 AML diagnosis snv SHANK1 missense F2101L NM_016148 20-PANTPW SHANK1 MISSENSE SNP Somatic -32 0.004 8 46 54 0 28 28 Cosmic_Gene G G C G G TARGET-20-PANTPW-09A-03D TARGET-20-PANTPW-14A-02D 50944 19 51165405 51165405 15 AML diagnosis snv EIF2S3 missense V151M NM_001415 20-PANTPW EIF2S3 MISSENSE SNP Somatic -6 0.072 SQHIGH 4 17 21 0 23 23 Cosmic_Gene G G A G G TARGET-20-PANTPW-09A-03D TARGET-20-PANTPW-14A-02D 1968 X 24078272 24078272 14 AML diagnosis snv CSRNP3 silent S466S NM_001172173 20-PANUTB CSRNP3 SYNONYMOUS SNP dbsnp.134:rs147846034 Somatic 2 0.208 SQHIGH 33 26 60 0 36 36 Cosmic_Gene G G A G G TARGET-20-PANUTB-09A-01D TARGET-20-PANUTB-14A-01D 80034 2 166535903 166535903 Somatic Illumina 90 1961 1773 3735 3318 0 3318 AML diagnosis snv SEBOX missense G117D NM_001080837 20-PANUTB SEBOX MISSENSE SNP Somatic -7 0.071 SQHIGH 23 13 36 0 14 14 C C T C C TARGET-20-PANUTB-09A-01D TARGET-20-PANUTB-14A-01D 645832 17 26691513 26691513 Somatic Illumina 47 12386 8974 21376 24044 12 24075 AML diagnosis snv ZNF275 missense Q256K NM_001080485 20-PANUTB ZNF275 MISSENSE SNP Somatic -7 0.071 SQHIGH 13 7 20 0 9 9 Cosmic_Gene C C A C C TARGET-20-PANUTB-09A-01D TARGET-20-PANUTB-14A-01D 10838 X 152612909 152612909 Somatic Illumina 29 9501 7737 17252 17215 0 17220 AML diagnosis snv CD1C silent G119G NM_001765 20-PANUUA CD1C SYNONYMOUS SNP Somatic 15 0.635 SQHIGH 12 11 23 0 37 37 Cosmic_Gene C C T C C TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 911 1 158261902 158261902 60 AML diagnosis snv PLXNB1 silent A906A NM_002673 20-PANUUA PLXNB1 SYNONYMOUS SNP Somatic 6 0.203 SQHIGH 22 39 61 0 22 22 Cosmic_Gene C C T C C TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 5364 3 48460767 48460767 35 AML diagnosis snv MRFAP1L1 silent I65I NM_203462 20-PANUUA MRFAP1L1 SYNONYMOUS SNP Somatic 15 0.635 SQHIGH 30 20 50 0 65 65 G G T G G TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 114932 4 6711162 6711162 139 AML diagnosis snv GNB2 missense G288V NM_005273 20-PANUUA GNB2 MISSENSE SNP Somatic 1 0.122 SQHIGH 5 29 34 0 28 28 Cosmic_Gene G G T G G TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 2783 7 100276184 100276184 14 AML diagnosis snv MMP16 missense V139I NM_005941 20-PANUUA MMP16 MISSENSE SNP dbsnp.134:rs147772248 Somatic 12 0.414 SQHIGH 14 12 27 0 31 31 Cosmic_Gene C C T C C TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 4325 8 89180192 89180192 59 AML diagnosis snv CNTLN missense Y276C NM_017738 20-PANUUA CNTLN MISSENSE SNP Somatic -5 0.071 SQHIGH 13 14 27 1 26 27 Cosmic_Gene A A G A A TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 54875 9 17236564 17236564 38 AML diagnosis snv ZBTB1 missense D287H NM_001123329 20-PANUUA ZBTB1 MISSENSE SNP Somatic -3 0.083 SQHIGH 4 21 25 0 35 35 Cosmic_Gene G G C G G TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 22890 14 64989081 64989081 16 AML diagnosis snv MYH11 silent S1519S NM_002474 20-PANUUA MYH11|NDE1 SYNONYMOUS|INTRON SNP Somatic PFAM:PF01576:Myosin_tail_1 19 0.949 SQHIGH 9 18 27 0 54 54 Cosmic_Gene G G T G G TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 4629|54820 16 15815300 15815300 47 AML diagnosis snv SLC12A3 silent T55T NM_000339 20-PANUUA SLC12A3 SYNONYMOUS SNP Somatic PFAM:PF08403:AA_permease_N 13 0.474 SQHIGH 29 21 50 0 44 44 Cosmic_Gene C C T C C TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 6559 16 56899312 56899312 103 AML diagnosis snv WFDC8 missense R162H NM_130896 20-PANUUA WFDC8 MISSENSE SNP Somatic PFAM:PF00095:WAP 15 0.635 SQHIGH 26 25 51 0 58 58 C C T C C TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 90199 20 44181876 44181876 106 AML diagnosis mnv NRAS missense G12W NM_002524 20-PANUUA NRAS MISSENSE Sub dbsnp.133:rs121913250,dbsnp.134:rs141737521 Somatic 1 0.661 SQHIGH 26 29 55 0 30 30 Cosmic_Gene ACC ACC CCA ACC ACC TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 4893 1 115258746 115258748 62 AML diagnosis snv MYLK-AS1 EXON E29_exon NM_053025 20-PANVGE MYLK|MYLK-AS1 INTRON|UTR SNP Somatic 14 0.555 SQHIGH 15 18 33 0 31 31 Cosmic_Gene C C A C C TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 4638|100506826 3 123348489 123348489 52 AML diagnosis snv LOC93432 silent A982A NM_001293626 20-PANVGE LOC100124692 TSS-UPSTREAM SNP Somatic -1 0.100 SQHIGH 8 16 24 0 34 34 C C T C C TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 100124692 7 141867205 141867205 34 AML diagnosis snv ANK1 missense T1579S NM_020476 20-PANVGE ANK1 INTRON,MISSENSE SNP Somatic -1 0.100 SQHIGH 4 18 22 0 29 29 Cosmic_Gene T T A T T TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 286 8 41530233 41530233 15 AML diagnosis snv GAD2 missense R488Q NM_000818 20-PANVGE GAD2 MISSENSE SNP Somatic 15 0.642 SQHIGH 31 32 63 0 96 96 Cosmic_Gene G G A G G TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 2572 10 26581470 26581470 150 AML diagnosis snv CRTAC1 missense V379I NM_018058 20-PANVGE CRTAC1 MISSENSE SNP Somatic 4 0.161 SQHIGH 26 46 72 1 82 83 Cosmic_Gene C C T C C TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 55118 10 99656747 99656747 87 AML diagnosis snv FLT3 missense D835Y NM_004119 20-PANVGE FLT3 MISSENSE SNP dbsnp.133:rs121913488 Somatic PFAM:PF03109:ABC1 11 0.364 SQHIGH 23 35 58 0 57 57 COSMIC:mut:783 Cosmic_Gene C C A C C TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 2322 13 28592642 28592642 80 AML diagnosis snv CSNK1A1L missense P174L NM_145203 20-PANVGE CSNK1A1L MISSENSE SNP Somatic 13 0.477 SQHIGH 24 30 54 0 54 54 Cosmic_Gene G G A G G TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 122011 13 37678873 37678873 87 AML diagnosis snv MTHFD1 silent T25T NM_005956 20-PANVGE MTHFD1 SYNONYMOUS SNP Somatic PFAM:PF00763:THF_DHG_CYH 13 0.477 SQHIGH 29 32 61 0 49 49 Cosmic_Gene T T G T T TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 4522 14 64867544 64867544 92 AML diagnosis snv CIAPIN1 silent A54A NM_020313 20-PANVGE CIAPIN1 SYNONYMOUS SNP Somatic 1 0.120 SQHIGH 29 32 61 2 51 53 G G A G G TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 57019 16 57473242 57473242 74 AML diagnosis snv ARHGEF9-IT1 EXON E6_exon NM_015185 20-PANVGE ARHGEF9 INTRON SNP Somatic 17 0.835 SQHIGH 34 6 40 0 34 34 Cosmic_Gene G A G TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 23229 X 62891363 62891363 146 AML relapse snv FAM46B missense D312N NM_052943 20-PANVGP FAM46B MISSENSE SNP Somatic PFAM:PF07984:DUF1693 20 1.000 SQHIGH 20 11 31 0 59 59 Cosmic_Gene C C T C C TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 115572 1 27332779 27332779 118 AML relapse snv SRSF4 missense E324Q NM_005626 20-PANVGP SRSF4 MISSENSE SNP Somatic 9 0.346 SQHIGH 5 10 15 0 30 30 C C G C C TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 6429 1 29475437 29475437 26 AML relapse snv ECHDC2 missense R53C NM_018281 20-PANVGP ECHDC2 MISSENSE SNP Somatic 2 0.166 SQHIGH 13 21 34 0 41 41 Cosmic_Gene G G A G G TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 55268 1 53377427 53377427 51 AML relapse snv GCFC2 missense L663F NM_003203 20-PANVGP GCFC2 MISSENSE SNP Somatic PFAM:PF07842:GCFC 6 0.252 SQHIGH 15 21 36 1 42 43 Cosmic_Gene G G A G G TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 6936 2 75897380 75897380 49 AML relapse snv FSIP2 silent H6584H NM_173651 20-PANVGP FSIP2 SYNONYMOUS SNP Somatic 6 0.252 SQHIGH 24 36 60 0 48 48 T T C T T TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 401024 2 186673518 186673518 73 AML relapse snv SEMA3F silent R150R NM_004186 20-PANVGP SEMA3F SYNONYMOUS SNP Somatic PFAM:PF01403:Sema 10 0.386 SQHIGH 14 30 44 0 53 53 Cosmic_Gene C C T C C TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 6405 3 50211777 50211777 54 AML relapse snv SPEF2 missense R337W NM_024867 20-PANVGP SPEF2 MISSENSE SNP Somatic 14 0.620 SQHIGH 12 22 34 0 31 31 Cosmic_Gene C C T C C TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 79925 5 35659151 35659151 39 AML relapse snv TMEM174 missense Y183H NM_153217 20-PANVGP TMEM174 MISSENSE SNP Somatic 3 0.183 SQHIGH 19 27 46 1 47 48 Cosmic_Gene T T C T T TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 134288 5 72469617 72469617 58 AML relapse snv GFRA3 missense G228R NM_001496 20-PANVGP GFRA3 MISSENSE SNP Somatic PFAM:PF02351:GDNF -1 0.125 SQHIGH 23 18 41 0 26 26 Cosmic_Gene C C T C C TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 2676 5 137593431 137593431 64 AML relapse snv SARDH missense A901D NM_007101 20-PANVGP SARDH MISSENSE SNP Somatic 11 0.434 SQHIGH 28 20 48 0 73 73 G G T G G TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 1757 9 136529066 136529066 141 AML relapse snv SLC16A9 silent T267T NM_194298 20-PANVGP SLC16A9 SYNONYMOUS SNP Somatic 11 0.434 SQHIGH 22 31 53 1 31 32 Cosmic_Gene C C T C C TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 220963 10 61413983 61413983 44 AML relapse snv OR56A4 missense R206Q NM_001005179 20-PANVGP OR56A4 MISSENSE SNP dbsnp.123:rs17809527 Somatic PFAM:PF00001:7tm_1 12 0.489 SQHIGH 14 27 41 0 57 57 Cosmic_Gene C C T C C TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 120793 11 6023762 6023762 60 AML relapse snv CCDC101 missense R60C NM_138414 20-PANVGP CCDC101 MISSENSE SNP Somatic 8 0.310 SQHIGH 8 11 19 0 41 41 Cosmic_Gene C C T C C TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 112869 16 28596995 28596995 45 AML relapse snv BBS2 missense H12R NM_031885 20-PANVGP BBS2 MISSENSE SNP Somatic 15 0.701 SQHIGH 13 15 28 0 52 52 Cosmic_Gene T T C T T TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 583 16 56553740 56553740 69 AML relapse snv HYDIN silent P1013P NM_001270974 20-PANVGP HYDIN SYNONYMOUS SNP Somatic 2 0.166 SQHIGH 29 83 112 0 155 155 Cosmic_Gene G G T G G TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 54768 16 71061508 71061508 120 AML relapse snv PIEZO1 silent P276P NM_001142864 20-PANVGP FLJ40448|PIEZO1|LOC100289580 TSS-UPSTREAM|SYNONYMOUS|UTR SNP Somatic 9 0.346 SQHIGH 7 15 22 1 58 59 C C T C C TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 339059|9780|100289580 16 88804655 88804655 35 AML relapse snv SUGP1 silent G578G NM_172231 20-PANVGP SUGP1|TM6SF2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF01585:G-patch 11 0.434 SQHIGH 32 40 72 2 94 96 Cosmic_Gene G G A G G TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 57794|53345 19 19388590 19388590 115 AML relapse snv ZNF91 missense S866F NM_003430 20-PANVGP ZNF91 MISSENSE SNP Somatic 16 0.767 SQHIGH 28 26 54 0 48 48 G G A G G TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 7644 19 23543184 23543184 97 AML relapse snv POP4 missense I177V NM_006627 20-PANVGP POP4 MISSENSE,UTR SNP Somatic PFAM:PF01868:UPF0086 6 0.252 SQHIGH 19 31 50 0 29 29 A A G A A TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 10775 19 30106153 30106153 45 AML relapse snv CHST8 missense L142Q NM_001127896 20-PANVGP CHST8 MISSENSE SNP Somatic 2 0.166 SQHIGH 5 20 25 0 47 47 Cosmic_Gene T T A T T TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 64377 19 34263118 34263118 24 AML relapse snv SNRPA missense I43N NM_004596 20-PANVGP SNRPA MISSENSE SNP Somatic 11 0.434 SQHIGH 18 26 44 0 75 75 Cosmic_Gene T T A T T TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 6626 19 41263291 41263291 90 AML relapse snv ELSPBP1 silent A175A NM_022142 20-PANVGP ELSPBP1 SYNONYMOUS SNP Somatic 10 0.386 SQHIGH 28 31 59 0 52 52 G G A G G TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 64100 19 48525437 48525437 94 AML relapse snv AKAP17A silent R636R NM_005088 20-PANVGP ASMT|AKAP17A INTRON|SYNONYMOUS,UTR SNP Somatic -8 0.067 SQHIGH 3 13 16 0 31 31 Cosmic_Gene G G C G G TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 438|8227 X 1720307 1720307 15 AML relapse complex PTPRF frameshift R150fs NM_002840 20-PANVGP PTPRF FRAMESHIFT Sub Somatic 4 0.933 SQHIGH 18 18 36 0 56 56 Cosmic_Gene CG CG CTTC CG CG TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 5792 1 44035329 44035330 88 AML diagnosis snv FAM46B missense D312N NM_052943 20-PANVGP FAM46B MISSENSE SNP Somatic PFAM:PF07984:DUF1693 12 0.525 SQHIGH 25 30 55 0 59 59 Cosmic_Gene C C T C C TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 115572 1 27332779 27332779 95 AML diagnosis snv ECHDC2 missense R53C NM_018281 20-PANVGP ECHDC2 MISSENSE SNP Somatic 2 0.181 SQHIGH 21 24 45 0 41 41 Cosmic_Gene G G A G G TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 55268 1 53377427 53377427 72 AML diagnosis snv SPEF2 missense R337W NM_024867 20-PANVGP SPEF2 MISSENSE SNP Somatic 12 0.525 SQHIGH 8 10 18 0 31 31 Cosmic_Gene C C T C C TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 79925 5 35659151 35659151 40 AML diagnosis snv TMEM174 missense Y183H NM_153217 20-PANVGP TMEM174 MISSENSE SNP Somatic 3 0.200 SQHIGH 22 23 45 1 47 48 Cosmic_Gene T T C T T TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 134288 5 72469617 72469617 73 AML diagnosis snv GFRA3 missense G228R NM_001496 20-PANVGP GFRA3 MISSENSE SNP Somatic PFAM:PF02351:GDNF -1 0.136 SQHIGH 16 28 44 0 26 26 Cosmic_Gene C C T C C TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 2676 5 137593431 137593431 38 AML diagnosis snv HS3ST5 missense R65H NM_153612 20-PANVGP HS3ST5 MISSENSE SNP Somatic -10 0.063 SQHIGH 8 7 15 0 14 14 Cosmic_Gene C C T C C TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 222537 6 114379268 114379268 28 AML diagnosis snv SLC16A9 silent T267T NM_194298 20-PANVGP SLC16A9 SYNONYMOUS SNP Somatic 15 0.730 SQHIGH 21 24 45 1 31 32 Cosmic_Gene C C T C C TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 220963 10 61413983 61413983 49 AML diagnosis snv OR56A4 missense R206Q NM_001005179 20-PANVGP OR56A4 MISSENSE SNP dbsnp.123:rs17809527 Somatic PFAM:PF00001:7tm_1 13 0.587 SQHIGH 17 28 45 0 57 57 Cosmic_Gene C C T C C TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 120793 11 6023762 6023762 69 AML diagnosis snv BBS2 missense H12R NM_031885 20-PANVGP BBS2 MISSENSE SNP Somatic 13 0.587 SQHIGH 21 20 41 0 52 52 Cosmic_Gene T T C T T TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 583 16 56553740 56553740 91 AML diagnosis snv PIEZO1 silent P276P NM_001142864 20-PANVGP FLJ40448|PIEZO1|LOC100289580 TSS-UPSTREAM|SYNONYMOUS|UTR SNP Somatic 17 0.875 SQHIGH 17 18 35 1 58 59 C C T C C TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 339059|9780|100289580 16 88804655 88804655 75 AML diagnosis snv SUGP1 silent G578G NM_172231 20-PANVGP SUGP1|TM6SF2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF01585:G-patch 10 0.419 SQHIGH 48 53 101 2 94 96 Cosmic_Gene G G A G G TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 57794|53345 19 19388590 19388590 144 AML diagnosis snv ZNF91 missense S866F NM_003430 20-PANVGP ZNF91 MISSENSE SNP Somatic 17 0.875 SQHIGH 20 22 42 0 48 48 G G A G G TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 7644 19 23543184 23543184 80 AML diagnosis snv POP4 missense I177V NM_006627 20-PANVGP POP4 MISSENSE,UTR SNP Somatic PFAM:PF01868:UPF0086 18 0.916 SQHIGH 17 19 36 0 29 29 A A G A A TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 10775 19 30106153 30106153 53 AML diagnosis snv SNRPA missense I43N NM_004596 20-PANVGP SNRPA MISSENSE SNP Somatic 11 0.468 SQHIGH 27 17 44 0 75 75 Cosmic_Gene T T A T T TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 6626 19 41263291 41263291 148 AML diagnosis complex PTPRF frameshift R150fs NM_002840 20-PANVGP PTPRF FRAMESHIFT Sub Somatic 1 0.727 SQHIGH 50 32 82 0 56 56 Cosmic_Gene CG CG CTTC CG CG TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 5792 1 44035329 44035330 153 AML diagnosis snv FHL3 missense R59H NM_004468 20-PANVUF FHL3 MISSENSE SNP Somatic 12 0.442 SQHIGH 17 27 44 0 39 39 C C T C C TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 2275 1 38464801 38464801 55 AML diagnosis snv NRAS missense G12A NM_002524 20-PANVUF NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 20 0.987 SQHIGH 16 19 35 0 38 38 COSMIC:mut:565 Cosmic_Gene C C G C C TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 4893 1 115258747 115258747 61 AML diagnosis snv NEB missense M3402I NM_001164507 20-PANVUF NEB MISSENSE SNP Somatic 11 0.392 SQHIGH 12 12 24 0 28 28 Cosmic_Gene C C T C C TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 4703 2 152483657 152483657 49 AML diagnosis snv KLHL6 missense A530T NM_130446 20-PANVUF KLHL6 MISSENSE SNP Somatic PFAM:PF01344:Kelch_1 12 0.442 SQHIGH 25 31 56 0 32 32 Cosmic_Gene C C T C C TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 89857 3 183209993 183209993 60 AML diagnosis snv SYNE1 missense K2559E NM_182961 20-PANVUF SYNE1 MISSENSE SNP Somatic 7 0.256 SQHIGH 7 28 35 0 29 29 Cosmic_Gene T T C T T TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 23345 6 152716688 152716688 20 AML diagnosis snv FBXL13 missense R377H NM_145032 20-PANVUF FBXL13 MISSENSE SNP dbsnp.132:rs114385222 Somatic 4 0.185 SQHIGH 11 17 28 0 36 36 C C T C C TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 222235 7 102524110 102524110 45 AML diagnosis snv HK1 silent A59A NM_000188 20-PANVUF HK1 SYNONYMOUS SNP Somatic PFAM:PF00349:Hexokinase_1 17 0.836 SQHIGH 34 33 67 0 66 66 Cosmic_Gene C C T C C TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 3098 10 71103696 71103696 126 AML diagnosis snv GPR133 missense Y509D NM_198827 20-PANVUF GPR133 MISSENSE SNP Somatic PFAM:PF01825:GPS 4 0.185 SQHIGH 4 19 23 0 32 32 Cosmic_Gene T T G T T TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 283383 12 131561397 131561397 16 AML diagnosis snv FLT3 missense D835Y NM_004119 20-PANVUF FLT3 MISSENSE SNP dbsnp.133:rs121913488 Somatic PFAM:PF03109:ABC1 -12 0.051 5 35 40 0 44 44 COSMIC:mut:783 Cosmic_Gene C C A C C TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 2322 13 28592642 28592642 17 AML diagnosis snv UNC79 missense E115K NM_020818 20-PANVUF UNC79 MISSENSE SNP Somatic 7 0.256 SQHIGH 13 13 26 0 31 31 G G A G G TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 57578 14 93963608 93963608 54 AML diagnosis snv KCTD13 missense S167P NM_178863 20-PANVUF KCTD13 MISSENSE SNP Somatic 1 0.141 SQHIGH 4 30 34 0 38 38 A A G A A TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 253980 16 29923286 29923286 13 AML diagnosis snv TRPV3 splice_region D760_E17splice_region NM_145068 20-PANVUF TRPV3 INTRON SNP Somatic 8 0.283 SQHIGH 20 18 38 0 36 36 Cosmic_Gene C C A C C TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 162514 17 3417878 3417878 72 AML diagnosis snv CELF4 missense A308G NM_020180 20-PANVUF CELF4 MISSENSE SNP Somatic -18 0.027 6 30 36 0 41 41 Cosmic_Gene G G C G G TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 56853 18 34853005 34853005 21 AML diagnosis snv PRX missense G981E NM_181882 20-PANVUF PRX UTR3,MISSENSE SNP Somatic 1 0.141 SQHIGH 11 19 30 1 20 21 Cosmic_Gene C C T C C TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 57716 19 40901317 40901317 21 AML diagnosis snv GUCD1 missense T180I NM_031444 20-PANVUF GUCD1 MISSENSE SNP Somatic PFAM:PF09778:Guanylate_cyc_2 17 0.836 SQHIGH 35 26 61 0 45 45 G G A G G TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 83606 22 24939899 24939899 110 AML diagnosis snv CACNA1F splice_region A1619_E42splice_region NM_005183 20-PANVUF CACNA1F ACCEPTOR SNP Somatic -7 0.072 SQHIGH 9 62 71 0 44 44 Cosmic_Gene G G T G G TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 778 X 49065861 49065861 20 AML diagnosis mnv MIR4274 EXON E2_exon NM_020777 20-PANVUF MIR4274|SORCS2 UTR|INTRON Sub Somatic -10 0.290 SQHIGH 9 26 35 1 29 30 Cosmic_Gene AG AG CC AG AG TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 100422826|57537 4 7461819 7461820 hsa-miR-4274:MIMAT0016906 19 AML diagnosis mnv OPRM1 missense V395_A396>VS NM_001145284 20-PANVUF OPRM1 INTRON,MISSENSE Sub Somatic -1 0.560 SQHIGH 7 27 34 0 37 37 Cosmic_Gene TGCT TGCT GTCA TGCT TGCT TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 4988 6 154428903 154428906 24 AML diagnosis snv ARHGAP29 silent E377E NM_004815 20-PANWHP ARHGAP29 SYNONYMOUS SNP Somatic PFAM:PF03114:BAR -6 0.070 SQHIGH 7 46 53 1 54 55 Cosmic_Gene C C T C C TARGET-20-PANWHP-09A-02D TARGET-20-PANWHP-14A-01D 9411 1 94668112 94668112 16 AML diagnosis snv ADCY1 nonsense E261* NM_021116 20-PANWHP ADCY1 NONSENSE SNP Somatic 7 0.235 SQHIGH 17 22 39 1 42 43 Cosmic_Gene G G T G G TARGET-20-PANWHP-09A-02D TARGET-20-PANWHP-14A-01D 107 7 45632499 45632499 54 AML diagnosis snv WBP11 missense P455L NM_016312 20-PANWHP WBP11 MISSENSE SNP Somatic 1 0.129 SQHIGH 5 26 31 0 25 25 Cosmic_Gene G G A G G TARGET-20-PANWHP-09A-02D TARGET-20-PANWHP-14A-01D 51729 12 14942013 14942013 14 AML diagnosis snv SLC8A3 missense G299E NM_033262 20-PANWHP SLC8A3 MISSENSE SNP Somatic 9 0.292 SQHIGH 31 17 48 1 42 43 Cosmic_Gene C C T C C TARGET-20-PANWHP-09A-02D TARGET-20-PANWHP-14A-01D 6547 14 70634244 70634244 103 AML relapse snv RHBDL2 missense R47S NM_017821 20-PANYCG RHBDL2 MISSENSE SNP Somatic 2 0.147 SQHIGH 11 46 57 1 40 41 C C G C C TARGET-20-PANYCG-04A-01D TARGET-20-PANYCG-14A-01D 54933 1 39384744 39384744 20 AML relapse snv RNF14 missense R361Q NM_004290 20-PANYCG RNF14 MISSENSE SNP Somatic -6 0.069 SQHIGH 6 27 33 0 32 32 G G A G G TARGET-20-PANYCG-04A-01D TARGET-20-PANYCG-14A-01D 9604 5 141362963 141362963 19 AML relapse snv PLIN2 missense P214L NM_001122 20-PANYCG PLIN2 MISSENSE,UTR SNP Somatic PFAM:PF03036:Perilipin -1 0.109 SQHIGH 6 19 25 0 19 19 Cosmic_Gene G G A G G TARGET-20-PANYCG-04A-01D TARGET-20-PANYCG-14A-01D 123 9 19119784 19119784 16 AML relapse snv CHD4 missense R975C NM_001273 20-PANYCG CHD4 MISSENSE SNP Somatic -1 0.109 SQHIGH 9 40 49 1 40 41 Cosmic_Gene G G A G G TARGET-20-PANYCG-04A-01D TARGET-20-PANYCG-14A-01D 1108 12 6701584 6701584 18 AML relapse snv ADAMTS20 missense I576T NM_025003 20-PANYCG ADAMTS20 MISSENSE SNP Somatic -22 0.013 4 12 16 0 31 31 COSMIC:mut:54388 Cosmic_Gene A A G A A TARGET-20-PANYCG-04A-01D TARGET-20-PANYCG-14A-01D 80070 12 43847743 43847743 20 AML relapse snv MAP3K12 missense E89V NM_006301 20-PANYCG MAP3K12 MISSENSE SNP Somatic -10 0.049 SQHIGH 6 48 54 0 48 48 Cosmic_Gene T T A T T TARGET-20-PANYCG-04A-01D TARGET-20-PANYCG-14A-01D 7786 12 53880811 53880811 17 AML relapse snv JPH3 missense D525G NM_020655 20-PANYCG JPH3 MISSENSE SNP Somatic -2 0.098 SQHIGH 3 8 11 0 21 21 Cosmic_Gene A A G A A TARGET-20-PANYCG-04A-01D TARGET-20-PANYCG-14A-01D 57338 16 87723540 87723540 15 AML diagnosis snv RHBDL2 missense R47S NM_017821 20-PANYCG RHBDL2 MISSENSE SNP Somatic 7 0.233 SQHIGH 18 33 51 1 40 41 C C G C C TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 54933 1 39384744 39384744 43 AML diagnosis snv CYP4A11 silent L355L NM_000778 20-PANYCG CYP4A11 SYNONYMOUS SNP Somatic PFAM:PF00067:p450 11 0.381 SQHIGH 15 26 41 0 57 57 Cosmic_Gene G G A G G TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 1579 1 47399873 47399873 65 AML diagnosis snv B3GALNT1 missense D286V NM_003781 20-PANYCG B3GALNT1 MISSENSE SNP Somatic 12 0.435 SQHIGH 15 29 44 0 41 41 Cosmic_Gene T T A T T TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 8706 3 160803686 160803686 49 AML diagnosis snv RNF14 missense R361Q NM_004290 20-PANYCG RNF14 MISSENSE SNP Somatic 9 0.297 SQHIGH 12 35 47 0 32 32 G G A G G TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 9604 5 141362963 141362963 30 AML diagnosis snv PPARGC1B silent E436E NM_133263 20-PANYCG PPARGC1B SYNONYMOUS SNP Somatic -10 0.041 SQHIGH 3 23 26 0 50 50 A A G A A TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 133522 5 149212944 149212944 14 AML diagnosis snv CELF2 missense M160V NM_001025076 20-PANYCG CELF2 MISSENSE SNP Somatic 4 0.161 SQHIGH 15 29 44 2 47 49 A A G A A TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 10659 10 11308593 11308593 38 AML diagnosis snv NOLC1 silent R7R NM_004741 20-PANYCG NOLC1 SYNONYMOUS SNP Somatic 11 0.381 SQHIGH 10 15 25 0 48 48 Cosmic_Gene C C A C C TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 9221 10 103912188 103912188 53 AML diagnosis snv CHD4 missense R975C NM_001273 20-PANYCG CHD4 MISSENSE SNP Somatic 2 0.130 SQHIGH 14 28 42 1 40 41 Cosmic_Gene G G A G G TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 1108 12 6701584 6701584 37 AML diagnosis snv UNC79 splice_region D1693_E30splice_region NM_020818 20-PANYCG UNC79 INTRON SNP Somatic 11 0.381 SQHIGH 35 34 69 2 84 86 C C T C C TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 57578 14 94089195 94089195 125 AML diagnosis snv NUTM1 silent S5S NM_001284293 20-PANYCG C15orf55|NOP10 TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 9 0.297 SQHIGH 14 23 37 1 32 33 Cosmic_Gene G G A G G TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 256646|55505 15 34635848 34635848 35 AML diagnosis snv UNC45B missense A829S NM_173167 20-PANYCG UNC45B MISSENSE SNP Somatic 1 0.119 SQHIGH 19 17 36 2 47 49 Cosmic_Gene G G T G G TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 146862 17 33510551 33510551 66 AML diagnosis snv RUNX1 missense R162K NM_001754 20-PANYCG RUNX1 MISSENSE SNP Somatic PFAM:PF00853:Runt 7 0.233 SQHIGH 16 30 46 0 23 23 Cosmic_Gene C C T C C TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 861 21 36252877 36252877 33 AML diagnosis snv FAM9A missense E192A NM_001171186 20-PANYCG FAM9A MISSENSE SNP Somatic -7 0.054 SQHIGH 6 47 53 1 59 60 T T G T T TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 171482 X 8763375 8763375 14 AML diagnosis complex CD97 frameshift I588fs NM_078481 20-PANYCG CD97 FRAMESHIFT Sub Somatic PFAM:PF00002:7tm_2 -10 0.237 SQHIGH 9 30 39 2 63 65 Cosmic_Gene CAT CAT CCTG CAT CAT TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 976 19 14516691 14516693 27 AML diagnosis snv FAM71A missense A156V NM_153606 20-PANYGP FAM71A MISSENSE SNP Somatic PFAM:PF12480:DUF3699 12 0.400 SQHIGH 19 25 44 0 53 53 Cosmic_Gene C C T C C TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 149647 1 212798686 212798686 77 AML diagnosis snv PPP2R3A missense A22E NM_181897 20-PANYGP PPP2R3A INTRON,MISSENSE SNP Somatic 16 0.706 SQHIGH 15 20 35 0 41 41 Cosmic_Gene C C A C C TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 5523 3 135741976 135741976 59 AML diagnosis snv OR2H2 missense R120H NM_007160 20-PANYGP OR2H2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 16 0.706 SQHIGH 23 26 49 0 56 56 G G A G G TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 7932 6 29556080 29556080 92 AML diagnosis snv GPR126 missense G816V NM_020455 20-PANYGP GPR126 MISSENSE SNP Somatic PFAM:PF01825:GPS -9 0.049 SQHIGH 15 11 26 0 25 25 Cosmic_Gene G G T G G TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 57211 6 142732454 142732454 56 AML diagnosis snv PON3 missense T226K NM_000940 20-PANYGP PON3 MISSENSE SNP Somatic PFAM:PF01731:Arylesterase -3 0.078 SQHIGH 4 23 27 0 32 32 Cosmic_Gene G G T G G TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 5446 7 94993193 94993193 14 AML diagnosis snv ARPC1B splice Q22_E2splice NM_005720 20-PANYGP ARPC1B DISRUPT SNP Somatic 8 0.242 SQHIGH 10 18 28 0 31 31 T T C T T TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 10095 7 98983403 98983403 37 AML diagnosis snv HYAL4 silent V242V NM_012269 20-PANYGP HYAL4 SYNONYMOUS SNP Somatic PFAM:PF01630:Glyco_hydro_56 -39 0.000 4 25 29 0 39 39 Cosmic_Gene C C G C C TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 23553 7 123509053 123509053 15 AML diagnosis snv PDLIM2 silent R230R NM_176871 20-PANYGP PDLIM2 SYNONYMOUS SNP Somatic 12 0.400 SQHIGH 24 20 44 0 22 22 C C T C C TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 64236 8 22447181 22447181 55 AML diagnosis snv SLC39A12-AS1 EXON E11_exon NM_001145195 20-PANYGP SLC39A12|LOC100129213 INTRON|UTR SNP Somatic 12 0.400 SQHIGH 14 17 31 0 24 24 Cosmic_Gene C C T C C TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 221074|100129213 10 18291428 18291428 42 AML diagnosis snv PKD2L1 missense A432T NM_016112 20-PANYGP PKD2L1 MISSENSE SNP Somatic PFAM:PF08016:PKD_channel 3 0.141 SQHIGH 14 23 37 1 43 44 Cosmic_Gene C C T C C TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 9033 10 102055941 102055941 45 AML diagnosis snv DDX10 missense V435L NM_004398 20-PANYGP DDX10 MISSENSE SNP Somatic 17 0.834 SQHIGH 13 20 33 0 26 26 Cosmic_Gene G G C G G TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 1662 11 108577545 108577545 38 AML diagnosis snv THTPA silent G100G NM_024328 20-PANYGP THTPA SYNONYMOUS,INTRON SNP Somatic 8 0.242 SQHIGH 7 30 37 0 27 27 C C G C C TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 79178 14 24026266 24026266 18 AML diagnosis snv LAMA5 silent P1752P NM_005560 20-PANYGP LAMA5 SYNONYMOUS SNP Somatic PFAM:PF00052:Laminin_B 1 0.116 SQHIGH 29 24 53 0 29 29 Cosmic_Gene G G A G G TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 3911 20 60901775 60901775 72 AML diagnosis complex ZNF148 frameshift S113fs NM_021964 20-PANYGP ZNF148 FRAMESHIFT Sub Somatic 1 0.646 SQHIGH 31 29 60 0 58 58 Cosmic_Gene CG CG CCCC CG CG TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 7707 3 125007066 125007067 114 AML diagnosis snv CSMD2 missense R2169W NM_052896 20-PANYNR CSMD2 MISSENSE SNP Somatic -2 0.092 SQHIGH 9 40 49 0 60 60 Cosmic_Gene G G A G G TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 114784 1 34070915 34070915 33 AML diagnosis snv SSR2 missense S73P NM_003145 20-PANYNR SSR2 MISSENSE SNP Somatic PFAM:PF05753:TRAP_beta 10 0.317 SQHIGH 12 32 44 0 41 41 A A G A A TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 6746 1 155988098 155988098 38 AML diagnosis snv FER1L5 silent T575T NM_001293083 20-PANYNR FER1L5 SYNONYMOUS SNP Somatic -7 0.062 SQHIGH 7 37 44 0 30 30 Cosmic_Gene C C T C C TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 90342 2 97350119 97350119 17 AML diagnosis snv CNNM4 silent E587E NM_020184 20-PANYNR CNNM4 SYNONYMOUS SNP Somatic -6 0.067 SQHIGH 9 62 71 0 90 90 Cosmic_Gene A A G A A TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 26504 2 97464873 97464873 33 AML diagnosis snv ANK2 silent E3931E NM_001148 20-PANYNR ANK2 SYNONYMOUS SNP Somatic 4 0.160 SQHIGH 13 47 60 0 52 52 Cosmic_Gene G G A G G TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 287 4 114294539 114294539 38 AML diagnosis snv RFX6 silent S854S NM_173560 20-PANYNR RFX6 SYNONYMOUS SNP Somatic 1 0.122 SQHIGH 9 38 47 0 36 36 Cosmic_Gene G G A G G TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 222546 6 117250085 117250085 24 AML diagnosis snv DGKI missense R257G NM_004717 20-PANYNR DGKI MISSENSE SNP Somatic PFAM:PF00130:C1_1 8 0.251 SQHIGH 4 24 28 0 34 34 Cosmic_Gene G G C G G TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 9162 7 137330253 137330253 14 AML diagnosis snv DENND6B missense C295G NM_001001794 20-PANYNR DENND6B MISSENSE SNP Somatic PFAM:PF02141:DENN -8 0.057 SQHIGH 9 35 44 0 27 27 A A C A A TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 414918 22 50753128 50753128 20 AML diagnosis mnv DGKI missense H255_R256>QG NM_004717 20-PANYNR DGKI MISSENSE Sub Somatic PFAM:PF00130:C1_1 -7 0.296 SQHIGH 4 23 27 0 40 40 Cosmic_Gene TG TG CT TG TG TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 9162 7 137330256 137330257 16 AML diagnosis snv CACNA2D3 missense R810W NM_018398 20-PANYSN CACNA2D3 MISSENSE SNP Somatic 15 0.650 SQHIGH 19 24 43 0 51 51 Cosmic_Gene C C T C C TARGET-20-PANYSN-03A-02D TARGET-20-PANYSN-14A-01D 55799 3 54933874 54933874 77 AML diagnosis snv LOC100506497 EXON E12_exon NM_031311 20-PANYSN CPVL|LOC100506497 INTRON|UTR SNP Somatic 1 0.132 SQHIGH 4 44 48 0 67 67 Cosmic_Gene C C A C C TARGET-20-PANYSN-03A-02D TARGET-20-PANYSN-14A-01D 54504|100506497 7 29040634 29040634 16 AML diagnosis snv PKD1L1 missense C2178S NM_138295 20-PANYSN PKD1L1 MISSENSE SNP Somatic -10 0.054 SQHIGH 5 24 29 0 20 20 Cosmic_Gene C C G C C TARGET-20-PANYSN-03A-02D TARGET-20-PANYSN-14A-01D 168507 7 47869663 47869663 12 AML diagnosis snv PIWIL2 missense P223T NM_001135721 20-PANYSN PIWIL2 MISSENSE SNP Somatic 9 0.299 SQHIGH 27 31 58 1 41 42 Cosmic_Gene C C A C C TARGET-20-PANYSN-03A-02D TARGET-20-PANYSN-14A-01D 55124 8 22141709 22141709 66 AML diagnosis snv ZSWIM8-AS1 EXON E15_exon NM_015037 20-PANYSN KIAA0913|LOC100507331 ACCEPTOR|UTR SNP Somatic -8 0.062 SQHIGH 5 33 38 0 60 60 Cosmic_Gene T T G T T TARGET-20-PANYSN-03A-02D TARGET-20-PANYSN-14A-01D 23053|100507331 10 75556524 75556524 21 AML diagnosis snv P2RY2 missense D10G NM_176072 20-PANYSN P2RY2 MISSENSE SNP Somatic 1 0.132 SQHIGH 6 27 33 1 42 43 Cosmic_Gene A A G A A TARGET-20-PANYSN-03A-02D TARGET-20-PANYSN-14A-01D 5029 11 72945233 72945233 16 AML diagnosis snv SPACA7 splice E149_E6splice NM_145248 20-PANYSN SPACA7 ACCEPTOR SNP Somatic 9 0.299 SQHIGH 32 37 69 0 65 65 Cosmic_Gene C C T C C TARGET-20-PANYSN-03A-02D TARGET-20-PANYSN-14A-01D 122258 13 113086755 113086755 112 AML diagnosis snv GLMN missense I89V NM_053274 20-PANZKA GLMN MISSENSE SNP Somatic PFAM:PF08568:Kinetochor_Ybp2 -8 0.055 SQHIGH 4 20 24 1 44 45 Cosmic_Gene T T C T T TARGET-20-PANZKA-09A-02D TARGET-20-PANZKA-14A-02D 11146 1 92756995 92756995 13 AML diagnosis snv CXCR4 nonsense R338* NM_001008540 20-PANZKA CXCR4 NONSENSE SNP dbsnp.132:rs104893624 Somatic 14 0.523 SQHIGH 9 21 30 0 33 33 Cosmic_Gene G G A G G TARGET-20-PANZKA-09A-02D TARGET-20-PANZKA-14A-02D 7852 2 136872498 136872498 32 AML diagnosis snv FNIP2 missense E903K NM_020840 20-PANZKA FNIP2 MISSENSE SNP Somatic -4 0.075 SQHIGH 13 25 38 0 21 21 G G A G G TARGET-20-PANZKA-09A-02D TARGET-20-PANZKA-14A-02D 57600 4 159790495 159790495 29 AML diagnosis snv TRPM6 missense Y1660D NM_017662 20-PANZKA TRPM6 MISSENSE SNP Somatic -7 0.060 SQHIGH 4 30 34 0 42 42 Cosmic_Gene A A C A A TARGET-20-PANZKA-09A-02D TARGET-20-PANZKA-14A-02D 140803 9 77367213 77367213 14 AML diagnosis snv DCHS1 silent D3188D NM_003737 20-PANZKA DCHS1|TPP1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -7 0.060 SQHIGH 5 33 38 0 29 29 Cosmic_Gene A A G A A TARGET-20-PANZKA-09A-02D TARGET-20-PANZKA-14A-02D 8642|1200 11 6643343 6643343 13 AML diagnosis snv TYR missense D125N NM_000372 20-PANZKA TYR MISSENSE SNP Somatic 1 0.119 SQHIGH 15 14 29 0 31 31 Cosmic_Gene G G A G G TARGET-20-PANZKA-09A-02D TARGET-20-PANZKA-14A-02D 7299 11 88911494 88911494 58 AML diagnosis snv PTPRH splice A564_E8splice NM_002842 20-PANZKA PTPRH MISSENSE SNP Somatic -7 0.060 SQHIGH 5 45 50 0 45 45 Cosmic_Gene C C G C C TARGET-20-PANZKA-09A-02D TARGET-20-PANZKA-14A-02D 5794 19 55710011 55710011 14 AML diagnosis snv PTPRH missense T563P NM_002842 20-PANZKA PTPRH MISSENSE SNP Somatic -7 0.060 SQHIGH 5 45 50 0 43 43 Cosmic_Gene T T G T T TARGET-20-PANZKA-09A-02D TARGET-20-PANZKA-14A-02D 5794 19 55710014 55710014 14 AML diagnosis mnv NBEAL2 missense L1105_S1106>LQ NM_015175 20-PANZKA NBEAL2 MISSENSE Sub Somatic 0 0.598 SQHIGH 7 26 33 0 27 27 Cosmic_Gene CTCA CTCA GCAG CTCA CTCA TARGET-20-PANZKA-09A-02D TARGET-20-PANZKA-14A-02D 23218 3 47040300 47040303 20 AML diagnosis snv CCNL2 missense V216G NM_030937 20-PANZWB CCNL2 MISSENSE SNP Somatic 11 0.380 SQHIGH 41 40 81 1 86 87 Cosmic_Gene A A C A A TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 81669 1 1328788 1328788 146 AML diagnosis snv DLGAP3 missense Q846P NM_001080418 20-PANZWB DLGAP3 MISSENSE SNP Somatic PFAM:PF03359:GKAP -8 0.063 SQHIGH 14 62 76 1 53 54 Cosmic_Gene T T G T T TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 58512 1 35333177 35333177 26 AML diagnosis snv CACNA2D1 missense R76C NM_000722 20-PANZWB CACNA2D1 MISSENSE SNP Somatic 0 0.123 SQHIGH 14 10 24 0 18 18 Cosmic_Gene G G A G G TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 781 7 81964519 81964519 44 AML diagnosis snv HSPA5 silent L416L NM_005347 20-PANZWB HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -5 0.079 SQHIGH 14 49 63 2 38 40 Cosmic_Gene C C A C C TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 3309 9 128000574 128000574 18 AML diagnosis snv HSPA5 silent V415V NM_005347 20-PANZWB HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 1 0.134 SQHIGH 14 45 59 2 41 43 Cosmic_Gene T T G T T TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 3309 9 128000577 128000577 21 AML diagnosis snv NUP160 missense N692D NM_015231 20-PANZWB NUP160 MISSENSE SNP Somatic 17 0.838 SQHIGH 37 23 60 0 51 51 Cosmic_Gene T T C T T TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 23279 11 47833860 47833860 132 AML diagnosis snv CDH24 missense P483A NM_022478 20-PANZWB CDH24 INTRON,MISSENSE SNP Somatic 2 0.147 SQHIGH 4 19 23 0 29 29 Cosmic_Gene G G C G G TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 64403 14 23521209 23521209 15 AML diagnosis snv WWP2 missense A615V NM_007014 20-PANZWB WWP2 MISSENSE SNP Somatic 14 0.567 SQHIGH 30 34 64 1 66 67 Cosmic_Gene C C T C C TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 11060 16 69969757 69969757 100 AML diagnosis mnv CHN1 nonsense P387_A389>P*T NM_001822 20-PANZWB CHN1 NONSENSE,UTR Sub Somatic -7 0.317 SQHIGH 11 52 63 1 47 48 Cosmic_Gene CAGGT CAGGT TTCAG CAGGT CAGGT TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 1123 2 175666478 175666482 21 AML diagnosis mnv PPRC1 nonsense A1087_E1088>A* NM_015062 20-PANZWB PPRC1 NONSENSE Sub Somatic -6 0.338 SQHIGH 5 32 37 0 26 26 Cosmic_Gene TG TG AT TG TG TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 23082 10 103901526 103901527 12 AML diagnosis snv SPTA1 missense L2250M NM_003126 20-PAPAWN SPTA1 MISSENSE SNP Somatic -3 0.090 SQHIGH 7 13 20 0 12 12 Cosmic_Gene A A T A A TARGET-20-PAPAWN-09A-02D TARGET-20-PAPAWN-14A-01D 6708 1 158585046 158585046 16 AML diagnosis snv PRPF4B silent P258P NM_003913 20-PAPAWN PRPF4B SYNONYMOUS SNP Somatic 14 0.559 SQHIGH 23 25 48 2 53 55 Cosmic_Gene T T A T T TARGET-20-PAPAWN-09A-02D TARGET-20-PAPAWN-14A-01D 8899 6 4032525 4032525 71 AML diagnosis snv LZTR1 missense Y759N NM_006767 20-PAPAWN LZTR1 MISSENSE SNP Somatic PFAM:PF00651:BTB 7 0.239 SQHIGH 6 30 36 0 36 36 Cosmic_Gene T T A T T TARGET-20-PAPAWN-09A-02D TARGET-20-PAPAWN-14A-01D 8216 22 21351040 21351040 19 AML diagnosis snv LZTR1 missense C760R NM_006767 20-PAPAWN LZTR1 MISSENSE SNP Somatic PFAM:PF00651:BTB 7 0.239 SQHIGH 6 29 35 0 33 33 Cosmic_Gene T T C T T TARGET-20-PAPAWN-09A-02D TARGET-20-PAPAWN-14A-01D 8216 22 21351043 21351043 18 AML relapse snv ANAPC1 silent S688S NM_022662 20-PAPBEJ ANAPC1 SYNONYMOUS SNP dbsnp.121:rs12998477 Somatic -4 0.085 SQHIGH 8 27 35 0 45 45 Cosmic_Gene A A G A A TARGET-20-PAPBEJ-04A-01D TARGET-20-PAPBEJ-14A-01D 64682 2 112596066 112596066 31 AML relapse snv PDZD2 missense L1059F NM_178140 20-PAPBEJ PDZD2 MISSENSE SNP Somatic -6 0.071 SQHIGH 6 29 35 0 39 39 Cosmic_Gene C C T C C TARGET-20-PAPBEJ-04A-01D TARGET-20-PAPBEJ-14A-01D 23037 5 32074387 32074387 21 AML relapse snv MYO6 missense R199H NM_004999 20-PAPBEJ MYO6 MISSENSE SNP dbsnp.134:rs140235734 Somatic -8 0.060 SQHIGH 8 31 39 1 34 35 Cosmic_Gene G G A G G TARGET-20-PAPBEJ-04A-01D TARGET-20-PAPBEJ-14A-01D 4646 6 76550344 76550344 17 AML relapse snv RBL2 splice_region R449_E9splice_region NM_005611 20-PAPBEJ RBL2 INTRON SNP Somatic -3 0.093 SQHIGH 9 30 39 0 35 35 Cosmic_Gene A A T A A TARGET-20-PAPBEJ-04A-01D TARGET-20-PAPBEJ-14A-01D 5934 16 53493539 53493539 27 AML relapse snv USP10 missense Q55R NM_005153 20-PAPBEJ USP10 MISSENSE SNP Somatic 0 0.126 SQHIGH 9 32 41 2 43 45 A A G A A TARGET-20-PAPBEJ-04A-01D TARGET-20-PAPBEJ-14A-01D 9100 16 84778251 84778251 18 AML relapse snv USP10 missense D62N NM_005153 20-PAPBEJ USP10 MISSENSE SNP Somatic -5 0.077 SQHIGH 11 42 53 0 44 44 G G A G G TARGET-20-PAPBEJ-04A-01D TARGET-20-PAPBEJ-14A-01D 9100 16 84778271 84778271 31 AML diagnosis snv CDC14A nonsense Q320* NM_003672 20-PAPBEJ CDC14A NONSENSE SNP Somatic PFAM:PF03162:Y_phosphatase2 7 0.296 SQHIGH 10 23 33 1 29 30 Cosmic_Gene C C T C C TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 8556 1 100933631 100933631 23 AML diagnosis snv TTN missense A31015V NM_133378 20-PAPBEJ TTN|LOC100506866 MISSENSE|INTRON SNP Somatic -4 0.085 SQHIGH 8 54 62 1 53 54 Cosmic_Gene G G A G G TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 7273|100506866 2 179400726 179400726 16 AML diagnosis snv PDCD6IP missense F696L NM_013374 20-PAPBEJ PDCD6IP MISSENSE,UTR SNP Somatic 1 0.141 SQHIGH 7 27 34 0 31 31 Cosmic_Gene T T G T T TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 10015 3 33896720 33896720 21 AML diagnosis snv PDZD2 missense L1059F NM_178140 20-PAPBEJ PDZD2 MISSENSE SNP Somatic 4 0.198 SQHIGH 14 34 48 0 39 39 Cosmic_Gene C C T C C TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 23037 5 32074387 32074387 40 AML diagnosis snv MYO6 missense R199H NM_004999 20-PAPBEJ MYO6 MISSENSE SNP dbsnp.134:rs140235734 Somatic 2 0.158 SQHIGH 11 35 46 1 34 35 Cosmic_Gene G G A G G TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 4646 6 76550344 76550344 21 AML diagnosis snv JAK2 missense V617F NM_004972 20-PAPBEJ JAK2 MISSENSE SNP dbsnp.131:rs77375493 Somatic PFAM:PF07714:Pkinase_Tyr -5 0.077 SQHIGH 8 38 46 0 30 30 COSMIC:mut:12600 Cosmic_Gene G G T G G TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 3717 9 5073770 5073770 19 AML diagnosis snv SPATA31D1 missense R523H NM_001001670 20-PAPBEJ SPATA31D1 MISSENSE SNP Somatic -8 0.061 SQHIGH 5 40 45 0 64 64 G G A G G TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 389763 9 84606953 84606953 20 AML diagnosis snv SPATA31D1 missense H525R NM_001001670 20-PAPBEJ SPATA31D1 MISSENSE SNP Somatic -7 0.066 SQHIGH 6 46 52 0 66 66 A A G A A TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 389763 9 84606959 84606959 22 AML diagnosis snv CPT1A missense L684I NM_001876 20-PAPBEJ CPT1A MISSENSE SNP Somatic PFAM:PF00755:Carn_acyltransf -9 0.056 SQHIGH 4 27 31 0 36 36 Cosmic_Gene A A T A A TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 1374 11 68527785 68527785 14 AML diagnosis snv TJP1 missense S1680N NM_003257 20-PAPBEJ TJP1 MISSENSE SNP Somatic PFAM:PF00791:ZU5 5 0.232 SQHIGH 20 45 65 0 44 44 Cosmic_Gene C C T C C TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 7082 15 29997761 29997761 51 AML diagnosis snv RBL2 splice_region R449_E9splice_region NM_005611 20-PAPBEJ RBL2 INTRON SNP Somatic -2 0.104 SQHIGH 10 22 32 0 35 35 Cosmic_Gene A A T A A TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 5934 16 53493539 53493539 36 AML diagnosis snv SH3GL1P1 EXON E7_exon NM_052888 20-PAPBEJ LRRC37B|SH3GL1P1 INTRON|UTR SNP Somatic -7 0.066 SQHIGH 6 34 40 1 44 45 Cosmic_Gene A A C A A TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 114659|6458 17 30368747 30368747 14 AML diagnosis snv GAGE10 missense R106T NM_001098413 20-PAPBEJ GAGE12J|GAGE10 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF05831:GAGE -6 0.072 SQHIGH 9 36 45 1 43 44 G G C G G TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 729396|643832 X 49173756 49173756 21 AML diagnosis snv MYSM1 missense S625T NM_001085487 20-PAPVCN MYSM1 MISSENSE SNP Somatic -6 0.062 SQHIGH 4 8 12 0 16 16 Cosmic_Gene C C G C C TARGET-20-PAPVCN-09A-03D TARGET-20-PAPVCN-14A-02D 114803 1 59132867 59132867 16 AML diagnosis snv LOC101927055 EXON E24_exon NM_133378 20-PAPVCN TTN|LOC100506892 INTRON|UTR SNP Somatic 8 0.269 SQHIGH 9 26 35 0 29 29 Cosmic_Gene T T C T T TARGET-20-PAPVCN-09A-03D TARGET-20-PAPVCN-14A-02D 7273|100506892 2 179643378 179643378 26 AML diagnosis snv RNF214 missense N202D NM_001077239 20-PAPVCN RNF214 MISSENSE SNP Somatic -10 0.045 SQHIGH 7 29 36 1 42 43 A A G A A TARGET-20-PAPVCN-09A-03D TARGET-20-PAPVCN-14A-02D 257160 11 117109813 117109813 18 AML diagnosis snv CDH7 missense L453F NM_033646 20-PAPVCN CDH7 MISSENSE SNP Somatic 12 0.447 SQHIGH 14 19 33 0 45 45 Cosmic_Gene C C T C C TARGET-20-PAPVCN-09A-03D TARGET-20-PAPVCN-14A-02D 1005 18 63525173 63525173 61 AML diagnosis snv CSMD2 silent N370N NM_052896 20-PAPVDV CSMD2 SYNONYMOUS SNP Somatic 2 0.134 SQHIGH 10 48 58 0 54 54 Cosmic_Gene G G A G G TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 114784 1 34285408 34285408 30 AML diagnosis snv NRAS missense G13D NM_002524 20-PAPVDV NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 6 0.208 SQHIGH 17 38 55 0 60 60 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 4893 1 115258744 115258744 61 AML diagnosis snv DISC2 EXON E9_exon NM_001164537 20-PAPVDV DISC1|TSNAX-DISC1|DISC2 INTRON|INTRON|UTR SNP Somatic -3 0.082 SQHIGH 6 29 35 0 21 21 Cosmic_Gene C C T C C TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 27185|100303453|27184 1 231951210 231951210 13 AML diagnosis snv PUS10 missense I511F NM_144709 20-PAPVDV PUS10 MISSENSE SNP Somatic 7 0.234 SQHIGH 11 29 40 1 30 31 Cosmic_Gene T T A T T TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 150962 2 61172164 61172164 22 AML diagnosis snv GPLD1 silent S829S NM_001503 20-PAPVDV GPLD1 SYNONYMOUS SNP dbsnp.134:rs138655717 Somatic -7 0.059 SQHIGH 6 36 42 0 43 43 Cosmic_Gene G G A G G TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 2822 6 24429296 24429296 19 AML diagnosis snv HTR1B missense V290A NM_000863 20-PAPVDV HTR1B MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -7 0.059 SQHIGH 9 20 29 0 16 16 A A G A A TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 3351 6 78172252 78172252 19 AML diagnosis snv MET missense R426C NM_001127500 20-PAPVDV MET MISSENSE SNP Somatic PFAM:PF01403:Sema 3 0.148 SQHIGH 9 33 42 0 42 42 Cosmic_Gene C C T C C TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 4233 7 116371797 116371797 29 AML diagnosis snv ROR2 silent G831G NM_004560 20-PAPVDV ROR2 SYNONYMOUS SNP Somatic 1 0.122 SQHIGH 11 38 49 1 30 31 Cosmic_Gene C C A C C TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 4920 9 94486283 94486283 18 AML diagnosis snv OR13C2 missense W3C NM_001004481 20-PAPVDV OR13C2 MISSENSE SNP Somatic -7 0.059 SQHIGH 10 52 62 0 57 57 Cosmic_Gene C C G C C TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 392376 9 107367900 107367900 30 AML diagnosis snv COL4A1 missense G1470R NM_001845 20-PAPVDV COL4A1 MISSENSE SNP Somatic PFAM:PF01413:C4 9 0.294 SQHIGH 9 26 35 0 30 30 Cosmic_Gene C C T C C TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 1282 13 110814631 110814631 27 AML diagnosis snv PLCB2 splice_region D28_E1splice_region NM_004573 20-PAPVDV PLCB2 DONOR SNP Somatic -8 0.054 SQHIGH 5 15 20 1 32 33 Cosmic_Gene T T C T T TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 5330 15 40599786 40599786 16 AML diagnosis snv ANKFN1 silent Q736Q NM_153228 20-PAPVDV ANKFN1 SYNONYMOUS SNP Somatic -10 0.047 SQHIGH 5 33 38 0 32 32 Cosmic_Gene G G A G G TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 162282 17 54559824 54559824 14 AML diagnosis snv SPHK1 missense R79Q NM_021972 20-PAPVDV SPHK1 MISSENSE SNP Somatic PFAM:PF00781:DAGK_cat 4 0.164 SQHIGH 7 28 35 0 29 29 Cosmic_Gene G G A G G TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 8877 17 74382332 74382332 20 AML diagnosis snv TBCD silent G1103G NM_005993 20-PAPVDV TBCD SYNONYMOUS SNP Somatic -8 0.054 SQHIGH 5 28 33 0 38 38 C C T C C TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 6904 17 80895952 80895952 17 AML diagnosis snv EMR3 silent L601L NM_032571 20-PAPVDV EMR3 SYNONYMOUS SNP Somatic -5 0.069 SQHIGH 6 24 30 0 28 28 Cosmic_Gene G G A G G TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 84658 19 14740860 14740860 18 AML relapse snv GALNT2 missense H492N NM_004481 20-PAPVZK GALNT2 MISSENSE SNP Somatic -2 0.100 SQHIGH 6 48 54 0 32 32 Cosmic_Gene C C A C C TARGET-20-PAPVZK-04A-01D TARGET-20-PAPVZK-14A-01D 2590 1 230410224 230410224 13 AML relapse snv USP19 silent A589A NM_006677 20-PAPVZK USP19 SYNONYMOUS SNP Somatic 0 0.123 SQHIGH 6 39 45 2 81 83 Cosmic_Gene G G T G G TARGET-20-PAPVZK-04A-01D TARGET-20-PAPVZK-14A-01D 10869 3 49152497 49152497 17 AML relapse snv WDR60 missense D682G NM_018051 20-PAPVZK WDR60 MISSENSE SNP Somatic -8 0.059 SQHIGH 8 28 36 1 58 59 Cosmic_Gene A A G A A TARGET-20-PAPVZK-04A-01D TARGET-20-PAPVZK-14A-01D 55112 7 158715191 158715191 28 AML relapse snv MAGEL2 silent P102P NM_019066 20-PAPVZK MAGEL2 SYNONYMOUS SNP Somatic -10 0.050 SQHIGH 9 23 32 0 47 47 A A G A A TARGET-20-PAPVZK-04A-01D TARGET-20-PAPVZK-14A-01D 54551 15 23892584 23892584 39 AML relapse snv C16orf92 missense L43P NM_001109660 20-PAPVZK C16orf92 ACCEPTOR,MISSENSE SNP Somatic -8 0.059 SQHIGH 6 22 28 3 61 64 T T C T T TARGET-20-PAPVZK-04A-01D TARGET-20-PAPVZK-14A-01D 146378 16 30035045 30035045 17 AML relapse snv ATF5 silent G86G NM_012068 20-PAPVZK IL4I1|ATF5|MIR4751|NUP62 TSS-UPSTREAM|SYNONYMOUS|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic -6 0.070 SQHIGH 6 27 33 0 40 40 Cosmic_Gene C C T C C TARGET-20-PAPVZK-04A-01D TARGET-20-PAPVZK-14A-01D 259307|22809|100616483|23636 19 50435758 50435758 22 AML diagnosis snv PLCH2 missense T225M NM_014638 20-PAPVZK PLCH2 MISSENSE SNP Somatic 11 0.444 SQHIGH 25 34 59 0 63 63 Cosmic_Gene C C T C C TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 9651 1 2415915 2415915 93 AML diagnosis snv SCN7A missense L151F NM_002976 20-PAPVZK SCN7A MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 8 0.311 SQHIGH 12 16 28 0 37 37 Cosmic_Gene C C A C C TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 6332 2 167328946 167328946 51 AML diagnosis snv HNRNPA0 silent E59E NM_006805 20-PAPVZK HNRNPA0 SYNONYMOUS SNP Somatic 12 0.503 SQHIGH 14 15 29 1 46 47 C C T C C TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 10949 5 137089579 137089579 59 AML diagnosis snv PCDHGB5 missense Y191D NM_018925 20-PAPVZK PCDHGA8|PCDHGA3|PCDHGB3|PCDHGB5|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 INTRON|INTRON|INTRON|MISSENSE|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 17 0.875 SQHIGH 34 34 68 0 59 59 Cosmic_Gene T T G T T TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 9708|56112|56102|56101|56111|56107|56104|56108|8641|56113|56110|56114|56109|56103 5 140778265 140778265 115 AML diagnosis snv POM121L12 missense R146H NM_182595 20-PAPVZK POM121L12 MISSENSE SNP Somatic 10 0.395 SQHIGH 18 16 34 0 44 44 G G A G G TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 285877 7 53103801 53103801 80 AML diagnosis snv TMEM62 silent L582L NM_024956 20-PAPVZK CCNDBP1|TMEM62 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -3 0.093 SQHIGH 5 29 34 0 37 37 Cosmic_Gene G G T G G TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 23582|80021 15 43476598 43476598 17 AML diagnosis snv EFTUD2 missense L868V NM_004247 20-PAPVZK EFTUD2 MISSENSE SNP Somatic 10 0.395 SQHIGH 37 37 74 0 81 81 Cosmic_Gene G G C G G TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 9343 17 42929890 42929890 146 AML diagnosis snv JPH2 missense S258R NM_020433 20-PAPVZK JPH2 MISSENSE SNP Somatic -16 0.028 3 11 14 0 23 23 G G T G G TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 57158 20 42788653 42788653 13 AML diagnosis snv SHANK3 missense S777A NM_033517 20-PAPVZK SHANK3 MISSENSE SNP Somatic -9 0.055 SQHIGH 3 8 11 0 36 36 Cosmic_Gene T T G T T TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 85358 22 51158632 51158632 20 AML diagnosis snv AGRN missense S373L NM_198576 20-PAPWHS AGRN MISSENSE SNP Somatic PFAM:PF00050:Kazal_1 2 0.151 SQHIGH 12 14 26 0 30 30 Cosmic_Gene C C T C C TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 375790 1 977023 977023 48 AML diagnosis snv TNNI3K missense Q459H NM_015978 20-PAPWHS FPGT-TNNI3K|TNNI3K MISSENSE|MISSENSE SNP Somatic -3 0.093 SQHIGH 11 14 25 0 12 12 Cosmic_Gene G G T G G TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 100526835|51086 1 74834761 74834761 23 AML diagnosis snv NRAS missense Q61K NM_002524 20-PAPWHS NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 3 0.166 SQHIGH 7 15 22 0 34 34 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 4893 1 115256530 115256530 31 AML diagnosis snv COL5A2 missense D1430Y NM_000393 20-PAPWHS COL5A2 MISSENSE SNP Somatic PFAM:PF01410:COLFI 6 0.228 SQHIGH 9 22 31 0 31 31 Cosmic_Gene C C A C C TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 1290 2 189899707 189899707 30 AML diagnosis snv BOLL missense S21Y NM_197970 20-PAPWHS BOLL MISSENSE SNP dbsnp.134:rs141986181 Somatic -1 0.113 SQHIGH 12 8 20 0 11 11 Cosmic_Gene G G T G G TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 66037 2 198646549 198646549 30 AML diagnosis snv IMPG1 missense A229V NM_001563 20-PAPWHS IMPG1 MISSENSE SNP Somatic 16 0.736 SQHIGH 32 36 68 0 50 50 Cosmic_Gene G G A G G TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 3617 6 76728556 76728556 95 AML diagnosis snv DNAH11 missense E3308G NM_001277115 20-PAPWHS DNAH11 MISSENSE SNP Somatic PFAM:PF12777:MT -8 0.061 SQHIGH 5 23 28 0 22 22 Cosmic_Gene A A G A A TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 8701 7 21827200 21827200 13 AML diagnosis snv PDHX silent R6R NM_003477 20-PAPWHS PDHX|APIP SYNONYMOUS,INTRON|TSS-UPSTREAM SNP Somatic -8 0.061 SQHIGH 4 8 12 0 19 19 Cosmic_Gene A A C A A TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 8050|51074 11 34938218 34938218 18 AML diagnosis snv CCND2 missense T280N NM_001759 20-PAPWHS CCND2 MISSENSE SNP Somatic 9 0.316 SQHIGH 11 14 25 0 31 31 Cosmic_Gene C C A C C TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 894 12 4409144 4409144 45 AML diagnosis snv PTPN6 missense R33G NM_002831 20-PAPWHS PTPN6 MISSENSE SNP Somatic 16 0.736 SQHIGH 21 16 37 0 38 38 Cosmic_Gene C C G C C TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 5777 12 7060860 7060860 82 AML diagnosis snv POLR2A missense D1203G NM_000937 20-PAPWHS POLR2A MISSENSE SNP Somatic -5 0.078 SQHIGH 9 38 47 2 54 56 Cosmic_Gene A A G A A TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 5430 17 7412405 7412405 19 AML diagnosis complex FBRS frameshift E309fs NM_001105079 20-PAPWHS FBRS FRAMESHIFT Sub Somatic -5 0.365 SQHIGH 8 16 24 0 31 31 Cosmic_Gene GGA GGA GAGC GGA GGA TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 64319 16 30680507 30680509 32 AML diagnosis snv LRP8 missense E638G NM_004631 20-PAPWIU LRP8 MISSENSE SNP Somatic -10 0.053 SQHIGH 5 27 32 0 53 53 T T C T T TARGET-20-PAPWIU-09A-03D TARGET-20-PAPWIU-14A-01D 7804 1 53727741 53727741 22 AML diagnosis snv SEMA5B missense R1138W NM_001031702 20-PAPWIU SEMA5B MISSENSE SNP Somatic 17 0.802 SQHIGH 18 16 34 1 36 37 Cosmic_Gene G G A G G TARGET-20-PAPWIU-09A-03D TARGET-20-PAPWIU-14A-01D 54437 3 122629034 122629034 60 AML diagnosis snv SHANK2 silent S633S NM_133266 20-PAPWIU SHANK2 SYNONYMOUS SNP Somatic 10 0.342 SQHIGH 15 13 28 1 45 46 Cosmic_Gene G G A G G TARGET-20-PAPWIU-09A-03D TARGET-20-PAPWIU-14A-01D 22941 11 70332735 70332735 66 AML diagnosis snv CBFA2T2 missense R318G NM_005093 20-PAPWIU CBFA2T2 MISSENSE SNP Somatic -13 0.041 5 26 31 0 42 42 Cosmic_Gene C C G C C TARGET-20-PAPWIU-09A-03D TARGET-20-PAPWIU-14A-01D 9139 20 32212802 32212802 19 AML diagnosis snv SLC13A3 missense E444G NM_022829 20-PAPWIU SLC13A3 MISSENSE SNP Somatic PFAM:PF00939:Na_sulph_symp -8 0.062 SQHIGH 7 24 31 0 22 22 Cosmic_Gene T T C T T TARGET-20-PAPWIU-09A-03D TARGET-20-PAPWIU-14A-01D 64849 20 45204213 45204213 18 AML diagnosis snv TENM1 nonsense S1349* NM_001163278 20-PAPWIU TENM1 NONSENSE SNP Somatic 14 0.558 SQHIGH 15 19 34 0 32 32 Cosmic_Gene G G T G G TARGET-20-PAPWIU-09A-03D TARGET-20-PAPWIU-14A-01D 10178 X 123587245 123587245 52 AML diagnosis snv NRAS missense Q61R NM_002524 20-PAPWYK NRAS MISSENSE SNP dbsnp.120:rs11554290 Somatic 13 0.503 SQHIGH 12 13 25 1 33 34 COSMIC:mut:584 Cosmic_Gene T T C T T TARGET-20-PAPWYK-09A-02D TARGET-20-PAPWYK-14A-01D 4893 1 115256529 115256529 43 AML diagnosis snv ACOXL silent L287L NM_001142807 20-PAPWYK ACOXL SYNONYMOUS SNP Somatic PFAM:PF02770:Acyl-CoA_dh_M 3 0.166 SQHIGH 14 15 29 0 37 37 C C T C C TARGET-20-PAPWYK-09A-02D TARGET-20-PAPWYK-14A-01D 55289 2 111666436 111666436 60 AML diagnosis snv VCAN silent G199G NM_004385 20-PAPWYK VCAN SYNONYMOUS SNP Somatic 0 0.126 SQHIGH 16 14 30 0 28 28 Cosmic_Gene C C A C C TARGET-20-PAPWYK-09A-02D TARGET-20-PAPWYK-14A-01D 1462 5 82789516 82789516 57 AML diagnosis snv SLC27A6 nonsense C278* NM_014031 20-PAPWYK SLC27A6 NONSENSE SNP Somatic -5 0.080 SQHIGH 3 2 5 1 19 20 T T A T T TARGET-20-PAPWYK-09A-02D TARGET-20-PAPWYK-14A-01D 28965 5 128324441 128324441 18 AML diagnosis snv LRP4 silent T528T NM_002334 20-PAPWYK LRP4 SYNONYMOUS SNP Somatic PFAM:PF00058:Ldl_recept_b 5 0.200 SQHIGH 20 20 40 0 40 40 Cosmic_Gene G G A G G TARGET-20-PAPWYK-09A-02D TARGET-20-PAPWYK-14A-01D 4038 11 46914637 46914637 74 AML diagnosis snv ASIC1 missense S251N NM_020039 20-PAPWYK ASIC1 MISSENSE SNP Somatic PFAM:PF00858:ASC 17 0.839 SQHIGH 41 25 66 1 59 60 Cosmic_Gene G G A G G TARGET-20-PAPWYK-09A-02D TARGET-20-PAPWYK-14A-01D 41 12 50471825 50471825 139 AML diagnosis snv BECN1 missense R36H NM_003766 20-PAPWYK BECN1 MISSENSE SNP Somatic 18 0.888 SQHIGH 15 17 32 0 26 26 Cosmic_Gene C C T C C TARGET-20-PAPWYK-09A-02D TARGET-20-PAPWYK-14A-01D 8678 17 40975789 40975789 47 AML diagnosis mnv ZCCHC11 missense R1194W NM_001009881 20-PAPWYK ZCCHC11 MISSENSE Sub Somatic PFAM:PF03828:PAP_assoc -4 0.391 SQHIGH 6 19 25 0 27 27 Cosmic_Gene ACG ACG CCA ACG ACG TARGET-20-PAPWYK-09A-02D TARGET-20-PAPWYK-14A-01D 23318 1 52912046 52912048 21 AML relapse snv HDAC4 silent A554A NM_006037 20-PAPXRJ HDAC4 SYNONYMOUS SNP Somatic -4 0.083 SQHIGH 8 30 38 1 37 38 Cosmic_Gene G G A G G TARGET-20-PAPXRJ-04A-02D TARGET-20-PAPXRJ-14A-01D 9759 2 240036863 240036863 18 AML relapse snv SKP2 silent L136L NM_005983 20-PAPXRJ SKP2 SYNONYMOUS SNP Somatic PFAM:PF00646:F-box 10 0.351 SQHIGH 14 27 41 0 35 35 Cosmic_Gene A A G A A TARGET-20-PAPXRJ-04A-02D TARGET-20-PAPXRJ-14A-01D 6502 5 36166636 36166636 43 AML relapse snv DIP2C silent D443D NM_014974 20-PAPXRJ DIP2C SYNONYMOUS SNP dbsnp.132:rs111884455 Somatic 10 0.351 SQHIGH 17 28 45 0 47 47 Cosmic_Gene G G A G G TARGET-20-PAPXRJ-04A-02D TARGET-20-PAPXRJ-14A-01D 22982 10 436735 436735 61 AML relapse snv TRIM6 silent Q325Q NM_001003818 20-PAPXRJ TRIM6|TRIM6-TRIM34 SYNONYMOUS|SYNONYMOUS SNP Somatic 1 0.134 SQHIGH 13 40 53 0 58 58 Cosmic_Gene A A G A A TARGET-20-PAPXRJ-04A-02D TARGET-20-PAPXRJ-14A-01D 117854|445372 11 5631781 5631781 46 AML relapse snv CPNE6 splice_region M260_E9splice_region NM_006032 20-PAPXRJ CPNE6 ACCEPTOR SNP Somatic 6 0.225 SQHIGH 9 30 39 0 50 50 Cosmic_Gene G G A G G TARGET-20-PAPXRJ-04A-02D TARGET-20-PAPXRJ-14A-01D 9362 14 24544705 24544705 35 AML relapse snv TOP2A splice_region E1066_E25splice_region NM_001067 20-PAPXRJ TOP2A ACCEPTOR SNP Somatic -6 0.070 SQHIGH 4 23 27 0 33 33 Cosmic_Gene T T A T T TARGET-20-PAPXRJ-04A-02D TARGET-20-PAPXRJ-14A-01D 7153 17 38555391 38555391 14 AML diagnosis snv C1orf146 missense T62I NM_001012425 20-PAPXRJ C1orf146 MISSENSE SNP Somatic 11 0.391 SQHIGH 6 5 11 0 22 22 Cosmic_Gene C C T C C TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 388649 1 92709798 92709798 34 AML diagnosis snv C4orf19 missense D309N NM_001104629 20-PAPXRJ RELL1|C4orf19 UTR3|MISSENSE SNP Somatic 5 0.204 SQHIGH 18 48 66 1 47 48 G G A G G TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 768211|55286 4 37592602 37592602 38 AML diagnosis snv SKP2 silent L136L NM_005983 20-PAPXRJ SKP2 SYNONYMOUS SNP Somatic PFAM:PF00646:F-box 16 0.748 SQHIGH 23 21 44 0 35 35 Cosmic_Gene A A G A A TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 6502 5 36166636 36166636 74 AML diagnosis snv SNAP91 missense D144G NM_014841 20-PAPXRJ SNAP91 MISSENSE SNP Somatic -10 0.055 SQHIGH 4 16 20 0 22 22 Cosmic_Gene T T C T T TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 9892 6 84371242 84371242 14 AML diagnosis snv NHSL1 missense G1546R NM_020464 20-PAPXRJ NHSL1 MISSENSE SNP Somatic 3 0.168 SQHIGH 11 15 26 0 29 29 C C T C C TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 57224 6 138745415 138745415 42 AML diagnosis snv PWWP2B missense E217Q NM_138499 20-PAPXRJ PWWP2B MISSENSE SNP Somatic -10 0.055 SQHIGH 3 5 8 0 15 15 G G C G G TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 170394 10 134218653 134218653 15 AML diagnosis snv TRIM6 silent Q325Q NM_001003818 20-PAPXRJ TRIM6|TRIM6-TRIM34 SYNONYMOUS|SYNONYMOUS SNP Somatic 9 0.311 SQHIGH 29 44 73 0 58 58 Cosmic_Gene A A G A A TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 117854|445372 11 5631781 5631781 87 AML diagnosis snv KRAS missense G12V NM_033360 20-PAPXRJ KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 16 0.748 SQHIGH 12 14 26 0 32 32 COSMIC:mut:520 Cosmic_Gene C C A C C TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 3845 12 25398284 25398284 50 AML diagnosis snv MYO15A missense Q1947E NM_016239 20-PAPXRJ MYO15A MISSENSE SNP Somatic -6 0.076 SQHIGH 6 22 28 0 19 19 Cosmic_Gene C C G C C TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 51168 17 18046083 18046083 15 AML diagnosis snv TTLL6 missense L695P NM_001130918 20-PAPXRJ TTLL6 MISSENSE SNP Somatic -6 0.076 SQHIGH 8 38 46 2 49 51 A A G A A TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 284076 17 46847416 46847416 15 AML diagnosis snv ICAM1 missense T304P NM_000201 20-PAPXRJ ICAM1|ICAM4 MISSENSE|TSS-UPSTREAM SNP Somatic -9 0.059 SQHIGH 3 15 18 0 30 30 Cosmic_Gene A A C A A TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 3383|3386 19 10394981 10394981 13 AML diagnosis snv GSPT2 missense A35V NM_018094 20-PAPXRJ GSPT2 MISSENSE SNP Somatic 13 0.507 SQHIGH 12 18 30 0 23 23 Cosmic_Gene C C T C C TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 23708 X 51486826 51486826 35 AML diagnosis snv BSN missense A2305P NM_003458 20-PAPXWI BSN MISSENSE SNP Somatic -7 0.060 SQHIGH 4 9 13 1 22 23 Cosmic_Gene G G C G G TARGET-20-PAPXWI-09A-03D TARGET-20-PAPXWI-14A-02D 8927 3 49693902 49693902 13 AML diagnosis snv CCDC180 missense R1653Q NM_020893 20-PAPXWI C9orf174|BDAG1 MISSENSE|UTR SNP Somatic -2 0.093 SQHIGH 14 20 34 0 48 48 G G A G G TARGET-20-PAPXWI-09A-03D TARGET-20-PAPXWI-14A-02D 100499483|57653 9 100137855 100137855 62 AML diagnosis snv KBTBD13 silent V26V NM_001101362 20-PAPXWI KBTBD13 SYNONYMOUS SNP Somatic PFAM:PF00651:BTB -9 0.050 SQHIGH 4 29 33 0 47 47 G G T G G TARGET-20-PAPXWI-09A-03D TARGET-20-PAPXWI-14A-02D 390594 15 65369231 65369231 16 AML diagnosis snv DLGAP3 missense Q846P NM_001080418 20-PARAHF DLGAP3 MISSENSE SNP Somatic PFAM:PF03359:GKAP 4 0.160 SQHIGH 14 44 58 0 66 66 Cosmic_Gene T T G T T TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 58512 1 35333177 35333177 50 AML diagnosis snv HHIP missense G86E NM_022475 20-PARAHF LOC646576|HHIP TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03024:Folate_rec -4 0.077 SQHIGH 6 8 14 0 26 26 Cosmic_Gene G G A G G TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 646576|64399 4 145568084 145568084 31 AML diagnosis snv TCP1 missense G89E NM_030752 20-PARAHF TCP1|MRPL18|SNORA29 UTR5,MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic PFAM:PF00118:Cpn60_TCP1 4 0.160 SQHIGH 5 27 32 0 42 42 Cosmic_Gene C C T C C TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 6950|29074|677812 6 160208788 160208788 19 AML diagnosis snv PTPN12 missense S503P NM_002835 20-PARAHF PTPN12 MISSENSE SNP Somatic -35 0.002 5 32 37 0 55 55 Cosmic_Gene T T C T T TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 5782 7 77256503 77256503 21 AML diagnosis snv SEMA3E missense D680N NM_012431 20-PARAHF SEMA3E MISSENSE SNP Somatic -3 0.084 SQHIGH 5 30 35 1 54 55 Cosmic_Gene C C T C C TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 9723 7 82997192 82997192 15 AML diagnosis snv FOXE1 missense G293R NM_004473 20-PARAHF FOXE1 MISSENSE SNP Somatic -10 0.047 SQHIGH 4 2 6 0 7 7 G G C G G TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 2304 9 100617073 100617073 17 AML diagnosis snv P2RY2 missense D10G NM_176072 20-PARAHF P2RY2 MISSENSE SNP Somatic -1 0.101 SQHIGH 5 19 24 1 38 39 Cosmic_Gene A A G A A TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 5029 11 72945233 72945233 16 AML diagnosis snv NCKAP5L missense S493P NM_001037806 20-PARAHF NCKAP5L MISSENSE SNP Somatic 5 0.175 SQHIGH 12 45 57 0 53 53 Cosmic_Gene A A G A A TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 57701 12 50190166 50190166 37 AML diagnosis snv EP400 silent A1868A NM_015409 20-PARAHF EP400|SNORA49 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 9 0.270 SQHIGH 7 31 38 0 51 51 Cosmic_Gene T T A T T TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 57634|677829 12 132514553 132514553 27 AML diagnosis snv DNAH9 missense N1098K NM_001372 20-PARAHF DNAH9 MISSENSE SNP Somatic -5 0.070 SQHIGH 3 12 15 0 25 25 Cosmic_Gene T T G T T TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 1770 17 11573052 11573052 13 AML diagnosis mnv DDX60L missense T1202_Y1203>TE NM_001012967 20-PARAHF DDX60L MISSENSE Sub Somatic -9 0.272 SQHIGH 6 29 35 0 25 25 Cosmic_Gene ATAC ATAC CTCA ATAC ATAC TARGET-20-PARAHF-09A-02D TARGET-20-PARAHF-14A-03D 91351 4 169317158 169317161 15 AML diagnosis snv CACNA1E missense R378H NM_000721 20-PARAJX CACNA1E MISSENSE SNP Somatic 0 0.124 SQHIGH 10 21 31 0 22 22 Cosmic_Gene G G A G G TARGET-20-PARAJX-09A-02D TARGET-20-PARAJX-14A-01D 777 1 181680167 181680167 26 AML diagnosis snv IKZF1 missense C175Y NM_006060 20-PARAJX IKZF1 INTRON,TSS-UPSTREAM,MISSENSE SNP Somatic 13 0.512 SQHIGH 29 27 56 0 47 47 Cosmic_Gene G G A G G TARGET-20-PARAJX-09A-02D TARGET-20-PARAJX-14A-01D 10320 7 50450340 50450340 97 AML diagnosis snv DAPK1 missense V96I NM_004938 20-PARAJX DAPK1 MISSENSE SNP Somatic PFAM:PF03109:ABC1 -30 0.006 3 18 21 0 36 36 Cosmic_Gene G G A G G TARGET-20-PARAJX-09A-02D TARGET-20-PARAJX-14A-01D 1612 9 90252859 90252859 13 AML diagnosis snv TBC1D10C missense L420P NM_198517 20-PARAJX TBC1D10C MISSENSE SNP Somatic -9 0.055 SQHIGH 5 23 28 0 33 33 T T C T T TARGET-20-PARAJX-09A-02D TARGET-20-PARAJX-14A-01D 374403 11 67177143 67177143 18 AML diagnosis snv AZU1 missense R88Q NM_001700 20-PARAJX AZU1 MISSENSE SNP Somatic 6 0.230 SQHIGH 12 21 33 0 33 33 Cosmic_Gene G G A G G TARGET-20-PARAJX-09A-02D TARGET-20-PARAJX-14A-01D 566 19 829609 829609 41 AML diagnosis snv SLC27A1 silent A115A NM_198580 20-PARAJX SLC27A1 SYNONYMOUS SNP Somatic 9 0.318 SQHIGH 19 25 44 0 43 43 G G A G G TARGET-20-PARAJX-09A-02D TARGET-20-PARAJX-14A-01D 376497 19 17597549 17597549 67 AML diagnosis snv RBMS3 silent L219L NM_001003793 20-PARANT RBMS3 SYNONYMOUS SNP Somatic 12 0.421 SQHIGH 13 31 44 0 41 41 Cosmic_Gene C C T C C TARGET-20-PARANT-09A-02D TARGET-20-PARANT-14A-01D 27303 3 29910366 29910366 42 AML diagnosis snv STX19 silent L78L NM_001001850 20-PARANT ARL13B|STX19 INTRON|SYNONYMOUS SNP Somatic 12 0.421 SQHIGH 17 29 46 0 42 42 C C T C C TARGET-20-PARANT-09A-02D TARGET-20-PARANT-14A-01D 200894|415117 3 93733880 93733880 55 AML diagnosis snv RELN missense W2906R NM_005045 20-PARANT RELN MISSENSE SNP Somatic 13 0.479 SQHIGH 13 15 28 0 31 31 Cosmic_Gene A A G A A TARGET-20-PARANT-09A-02D TARGET-20-PARANT-14A-01D 5649 7 103138651 103138651 50 AML diagnosis snv LAMC3 missense A1299V NM_006059 20-PARANT LAMC3 MISSENSE SNP Somatic 8 0.261 SQHIGH 21 21 42 1 29 30 Cosmic_Gene C C T C C TARGET-20-PARANT-09A-02D TARGET-20-PARANT-14A-01D 10319 9 133954654 133954654 50 AML diagnosis snv MUC16 splice_region G14190_E75splice_region NM_024690 20-PARANT MUC16 INTRON SNP Somatic -10 0.048 SQHIGH 6 50 56 0 70 70 Cosmic_Gene C C A C C TARGET-20-PARANT-09A-02D TARGET-20-PARANT-14A-01D 94025 19 8976253 8976253 22 AML diagnosis mnv TMC3 missense A1046_A1047>GP NM_001080532 20-PARANT LOC100506942|TMC3 INTRON|MISSENSE Sub Somatic -8 0.274 SQHIGH 4 21 25 0 36 36 Cosmic_Gene CTG CTG GTC CTG CTG TARGET-20-PARANT-09A-02D TARGET-20-PARANT-14A-01D 100506942|342125 15 81624924 81624926 16 AML diagnosis snv STOX2 missense T302M NM_020225 20-PARASV STOX2 MISSENSE SNP Somatic 11 0.392 SQHIGH 20 18 38 0 35 35 C C T C C TARGET-20-PARASV-03A-03D TARGET-20-PARASV-14A-01D 56977 4 184930896 184930896 71 AML diagnosis snv MAP7 missense R575H NM_003980 20-PARASV MAP7 MISSENSE SNP Somatic 13 0.506 SQHIGH 29 32 61 1 58 59 C C T C C TARGET-20-PARASV-03A-03D TARGET-20-PARASV-14A-01D 9053 6 136681914 136681914 91 AML diagnosis snv KRAS missense G12D NM_033360 20-PARASV KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 18 0.891 SQHIGH 11 9 20 0 27 27 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-20-PARASV-03A-03D TARGET-20-PARASV-14A-01D 3845 12 25398284 25398284 50 AML diagnosis snv TLCD1 missense K172T NM_138463 20-PARASV TLCD1|NEK8 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF03798:TRAM_LAG1_CLN8 9 0.309 SQHIGH 25 41 66 0 60 60 Cosmic_Gene T T G T T TARGET-20-PARASV-03A-03D TARGET-20-PARASV-14A-01D 116238|284086 17 27051757 27051757 82 AML relapse snv NRAS missense G12D NM_002524 20-PARASV NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -5 0.088 SQHIGH 6 29 35 0 44 44 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 4893 1 115258747 115258747 22 AML relapse snv RYR2 silent E4963E NM_001035 20-PARASV RYR2 SYNONYMOUS SNP Somatic 1 0.144 SQHIGH 7 27 34 0 33 33 Cosmic_Gene A A G A A TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 6262 1 237995932 237995932 22 AML relapse snv KCTD18 silent V13V NM_152387 20-PARASV KCTD18 SYNONYMOUS SNP Somatic -4 0.094 SQHIGH 3 14 17 0 33 33 Cosmic_Gene A A C A A TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 130535 2 201371701 201371701 15 AML relapse snv KCTD18 missense D12E NM_152387 20-PARASV KCTD18 MISSENSE SNP Somatic 2 0.158 SQHIGH 4 12 16 0 30 30 Cosmic_Gene A A C A A TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 130535 2 201371704 201371704 20 AML relapse snv PAX3 missense S326T NM_181457 20-PARASV PAX3 MISSENSE SNP Somatic -7 0.077 SQHIGH 4 8 12 1 29 30 Cosmic_Gene C C G C C TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 5077 2 223085055 223085055 17 AML relapse snv SETD2 nonsense W2016* NM_014159 20-PARASV SETD2 NONSENSE SNP Somatic 12 0.468 SQHIGH 15 34 49 0 57 57 Cosmic_Gene C C T C C TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 29072 3 47125223 47125223 56 AML relapse snv RAD54L2 missense E1446K NM_015106 20-PARASV RAD54L2 MISSENSE SNP dbsnp.134:rs149704636 Somatic 11 0.419 SQHIGH 11 13 24 0 28 28 Cosmic_Gene G G A G G TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 23132 3 51697368 51697368 44 AML relapse snv STOX2 missense T302M NM_020225 20-PARASV STOX2 MISSENSE SNP Somatic 2 0.158 SQHIGH 10 33 43 0 35 35 C C T C C TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 56977 4 184930896 184930896 28 AML relapse snv ANKRD66 missense C25Y NM_001162435 20-PARASV ANKRD66 MISSENSE SNP Somatic -10 0.062 SQHIGH 9 59 68 0 60 60 G G A G G TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 100287718 6 46717637 46717637 26 AML relapse snv MAP7 missense R575H NM_003980 20-PARASV MAP7 MISSENSE SNP Somatic 14 0.596 SQHIGH 53 34 87 1 58 59 C C T C C TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 9053 6 136681914 136681914 146 AML relapse snv MIR7160 EXON E11_exon NM_003970 20-PARASV MYOM2 INTRON SNP Somatic 1 0.144 SQHIGH 4 10 14 0 17 17 Cosmic_Gene A A T A A TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 9172 8 2024674 2024674 15 AML relapse snv VIM missense H253R NM_003380 20-PARASV LOC100652935|VIM TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00038:Filament -3 0.101 SQHIGH 5 19 24 0 38 38 Cosmic_Gene A A G A A TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 100652935|7431 10 17275806 17275806 22 AML relapse snv CALY missense G158C NM_015722 20-PARASV CALY MISSENSE SNP Somatic PFAM:PF06387:Calcyon -9 0.066 SQHIGH 8 16 24 0 16 16 C C A C C TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 50632 10 135139513 135139513 20 AML relapse snv OR5P2 silent V243V NM_153444 20-PARASV OR5P2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 6 0.254 SQHIGH 13 42 55 0 64 64 Cosmic_Gene C C T C C TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 120065 11 7817761 7817761 47 AML relapse snv CHMP1A missense A228T NM_001083314 20-PARASV CHMP1A UTR3,MISSENSE SNP Somatic -2 0.110 SQHIGH 7 32 39 0 32 32 C C T C C TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 5119 16 89712363 89712363 19 AML relapse snv TLCD1 missense K172T NM_138463 20-PARASV TLCD1|NEK8 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF03798:TRAM_LAG1_CLN8 9 0.341 SQHIGH 29 41 70 0 60 60 Cosmic_Gene T T G T T TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 116238|284086 17 27051757 27051757 93 AML diagnosis snv NRAS missense G13R NM_002524 20-PARBFJ NRAS MISSENSE SNP dbsnp.132:rs121434595 Somatic -18 0.022 3 18 21 0 41 41 COSMIC:mut:569 Cosmic_Gene C C G C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 4893 1 115258745 115258745 15 AML diagnosis snv C1orf61 splice_region E102_E5splice_region NM_006365 20-PARBFJ C1orf61 INTRON SNP Somatic -1 0.093 SQHIGH 12 32 44 1 39 40 Cosmic_Gene T T A T T TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 10485 1 156377625 156377625 28 AML diagnosis snv FOSL2 missense L206M NM_005253 20-PARBFJ FOSL2 MISSENSE SNP Somatic -40 0.000 4 17 21 0 24 24 Cosmic_Gene C C A C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 2355 2 28634950 28634950 14 AML diagnosis snv ADCY2 missense R424C NM_020546 20-PARBFJ ADCY2 MISSENSE SNP Somatic 11 0.314 SQHIGH 13 31 44 0 35 35 Cosmic_Gene C C T C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 108 5 7707820 7707820 37 AML diagnosis snv NT5E missense R395Q NM_002526 20-PARBFJ NT5E MISSENSE SNP Somatic PFAM:PF02872:5_nucleotid_C 8 0.223 SQHIGH 10 20 30 0 49 49 Cosmic_Gene G G A G G TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 4907 6 86199291 86199291 47 AML diagnosis snv LRRC4 missense V500M NM_022143 20-PARBFJ SND1|LRRC4 INTRON|MISSENSE SNP Somatic 11 0.314 SQHIGH 17 24 41 1 29 30 Cosmic_Gene C C T C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 27044|64101 7 127669196 127669196 38 AML diagnosis snv BOP1 silent V102V NM_015201 20-PARBFJ HSF1|BOP1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 12 0.360 SQHIGH 30 25 55 0 48 48 C C T C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 3297|23246 8 145512779 145512779 104 AML diagnosis snv METTL15 missense R212W NM_001297775 20-PARBFJ METTL15 SYNONYMOUS SNP Somatic PFAM:PF00398:RrnaAD 18 0.839 SQHIGH 10 18 28 1 41 42 Cosmic_Gene C C T C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 196074 11 28318378 28318378 36 AML diagnosis snv KRT84 silent G516G NM_033045 20-PARBFJ KRT84 SYNONYMOUS SNP Somatic -8 0.052 SQHIGH 4 22 26 0 34 34 Cosmic_Gene A A C A A TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 3890 12 52772073 52772073 15 AML diagnosis snv FLT3 missense D835H NM_004119 20-PARBFJ FLT3 MISSENSE SNP dbsnp.133:rs121913488 Somatic PFAM:PF03109:ABC1 14 0.485 SQHIGH 16 24 40 0 59 59 COSMIC:mut:785 Cosmic_Gene C C G C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 2322 13 28592642 28592642 73 AML diagnosis snv RTL1 missense H401N NM_001134888 20-PARBFJ RTL1|MIR136|MIR432 MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 2 0.123 SQHIGH 5 20 25 0 27 27 Cosmic_Gene G G T G G TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 388015|406927|574451 14 101349925 101349925 17 AML diagnosis snv IDH2 missense R140Q NM_002168 20-PARBFJ IDH2 MISSENSE SNP dbsnp.133:rs121913502 Somatic PFAM:PF00180:Iso_dh 14 0.485 SQHIGH 19 29 48 0 54 54 COSMIC:mut:41590 Cosmic_Gene C C T C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 3418 15 90631934 90631934 72 AML diagnosis snv ZNF764 missense V306L NM_033410 20-PARBFJ ZNF764 MISSENSE SNP Somatic 0 0.102 SQHIGH 11 12 23 0 21 21 Cosmic_Gene C C A C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 92595 16 30566826 30566826 38 AML diagnosis snv SCN4A silent L1042L NM_000334 20-PARBFJ SCN4A SYNONYMOUS SNP Somatic -3 0.077 SQHIGH 4 13 17 0 19 19 Cosmic_Gene C C A C C TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 6329 17 62025989 62025989 14 AML diagnosis snv SALL3 missense V1084I NM_171999 20-PARBFJ SALL3 MISSENSE SNP Somatic -2 0.085 SQHIGH 10 12 22 0 19 19 Cosmic_Gene G G A G G TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 27164 18 76755241 76755241 32 AML diagnosis snv NCLN missense I399F NM_020170 20-PARBFJ NCLN MISSENSE SNP Somatic 1 0.112 SQHIGH 7 6 13 0 13 13 A A T A A TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 56926 19 3204736 3204736 26 AML relapse snv PLA2R1 splice_region C969_E21splice_region NM_007366 20-PARBIU PLA2R1 ACCEPTOR SNP dbsnp.132:rs111355782 Somatic -4 0.080 SQHIGH 4 16 20 0 42 42 Cosmic_Gene A A C A A TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 22925 2 160813148 160813148 21 AML relapse snv IL5RA nonsense E335* NM_000564 20-PARBIU IL5RA NONSENSE SNP Somatic 17 0.858 SQHIGH 16 23 39 1 67 68 Cosmic_Gene C C A C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 3568 3 3118303 3118303 69 AML relapse snv SETD2 missense P1470L NM_014159 20-PARBIU SETD2 MISSENSE SNP Somatic 19 0.957 SQHIGH 12 14 26 1 59 60 Cosmic_Gene G G A G G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 29072 3 47161717 47161717 62 AML relapse snv ARHGEF38 silent D299D NM_001242729 20-PARBIU ARHGEF38 SYNONYMOUS SNP Somatic 16 0.768 SQHIGH 12 17 29 0 49 49 Cosmic_Gene C C T C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 54848 4 106569728 106569728 59 AML relapse snv CSF1R missense P510S NM_005211 20-PARBIU CSF1R MISSENSE SNP Somatic 8 0.295 SQHIGH 20 23 43 0 72 72 Cosmic_Gene G G A G G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 1436 5 149447876 149447876 101 AML relapse snv PRRC2B silent G400G NM_013318 20-PARBIU PRRC2B SYNONYMOUS SNP Somatic -1 0.110 SQHIGH 4 19 23 0 55 55 Cosmic_Gene C C A C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 84726 9 134330542 134330542 22 AML relapse snv ANK3 missense E3039K NM_020987 20-PARBIU ANK3 INTRON,MISSENSE SNP Somatic 10 0.379 SQHIGH 16 30 46 0 75 75 Cosmic_Gene C C T C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 288 10 61831524 61831524 76 AML relapse snv CDH23 silent Y2766Y NM_022124 20-PARBIU CDH23 SYNONYMOUS,TSS-UPSTREAM SNP Somatic -10 0.048 SQHIGH 3 11 14 1 44 45 Cosmic_Gene C C T C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 64072 10 73567153 73567153 14 AML relapse snv PPP1R14B missense R136W NM_138689 20-PARBIU PPP1R14B MISSENSE SNP Somatic PFAM:PF05361:PP1_inhibitor 14 0.629 SQHIGH 16 19 35 0 39 39 G G A G G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 26472 11 64012264 64012264 62 AML relapse snv P2RY2 missense L62F NM_176072 20-PARBIU P2RY2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 2 0.150 SQHIGH 5 26 31 0 78 78 Cosmic_Gene C C T C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 5029 11 72945388 72945388 28 AML relapse snv TNFSF13B missense A71G NM_006573 20-PARBIU TNFSF13B MISSENSE SNP Somatic -10 0.048 SQHIGH 4 19 23 1 46 47 C C G C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 10673 13 108922455 108922455 14 AML relapse snv CHD2 missense S866W NM_001271 20-PARBIU CHD2 MISSENSE SNP Somatic 17 0.858 SQHIGH 11 15 26 1 61 62 Cosmic_Gene C C G C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 1106 15 93521483 93521483 56 AML relapse snv WDR90 missense A429S NM_145294 20-PARBIU WDR90|LOC100507146 MISSENSE|TSS-UPSTREAM SNP Somatic 15 0.703 SQHIGH 12 19 31 0 63 63 Cosmic_Gene G G T G G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 197335|100507146 16 703576 703576 65 AML relapse snv MED1 silent A654A NM_004774 20-PARBIU MED1 SYNONYMOUS SNP Somatic 8 0.295 SQHIGH 23 33 56 0 87 87 Cosmic_Gene G G C G G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 5469 17 37566512 37566512 108 AML relapse snv BAIAP2 missense R316H NM_017450 20-PARBIU BAIAP2 MISSENSE SNP Somatic -7 0.062 SQHIGH 8 8 16 1 37 38 G G A G G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 10458 17 79077789 79077789 40 AML relapse snv HMG20B splice P50S NM_006339 20-PARBIU HMG20B MISSENSE SNP Somatic 17 0.858 SQHIGH 12 10 22 0 31 31 C C T C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 10362 19 3574381 3574381 56 AML relapse snv U2AF1 missense R156H NM_006758 20-PARBIU U2AF1 MISSENSE SNP Somatic PFAM:PF00642:zf-CCCH 10 0.379 SQHIGH 7 9 16 0 39 39 C C T C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 7307 21 44514780 44514780 42 AML relapse snv POLR2F missense R51Q NM_021974 20-PARBIU POLR2F MISSENSE SNP dbsnp.134:rs148513446 Somatic PFAM:PF01192:RNA_pol_Rpb6 15 0.703 SQHIGH 23 31 54 0 76 76 Cosmic_Gene G G A G G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 5435 22 38355414 38355414 103 AML relapse snv RHOXF1 missense R78P NM_139282 20-PARBIU RHOXF1 MISSENSE SNP Somatic -2 0.098 SQHIGH 5 32 37 0 41 41 C C G C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 158800 X 119249540 119249540 17 AML relapse snv ZBTB33 nonsense G29* NM_006777 20-PARBIU ZBTB33 NONSENSE SNP Somatic PFAM:PF00651:BTB 11 0.429 SQHIGH 15 27 42 1 53 54 Cosmic_Gene G G T G G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 10009 X 119387355 119387355 51 AML relapse complex ADRA1D frameshift V226fs NM_000678 20-PARBIU ADRA1D FRAMESHIFT Sub Somatic PFAM:PF00001:7tm_1 -9 0.288 SQHIGH 5 15 20 1 32 33 CCA CCA CGAC CCA CCA TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 146 20 4228926 4228928 16 AML diagnosis snv IL5RA nonsense E335* NM_000564 20-PARBIU IL5RA NONSENSE SNP Somatic 6 0.265 SQHIGH 22 45 67 1 67 68 Cosmic_Gene C C A C C TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 3568 3 3118303 3118303 64 AML diagnosis snv ARHGEF38 silent D299D NM_001242729 20-PARBIU ARHGEF38 SYNONYMOUS SNP Somatic 9 0.387 SQHIGH 24 28 52 0 49 49 Cosmic_Gene C C T C C TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 54848 4 106569728 106569728 84 AML diagnosis snv C6orf132 missense A542P NM_001164446 20-PARBIU C6orf132 MISSENSE SNP Somatic -2 0.100 SQHIGH 8 20 28 1 29 30 C C G C C TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 647024 6 42074026 42074026 20 AML diagnosis snv ANK3 missense E3039K NM_020987 20-PARBIU ANK3 INTRON,MISSENSE SNP Somatic 11 0.493 SQHIGH 30 24 54 0 75 75 Cosmic_Gene C C T C C TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 288 10 61831524 61831524 142 AML diagnosis snv PPP1R14B missense R136W NM_138689 20-PARBIU PPP1R14B MISSENSE SNP Somatic PFAM:PF05361:PP1_inhibitor 14 0.691 SQHIGH 9 14 23 0 39 39 G G A G G TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 26472 11 64012264 64012264 44 AML diagnosis snv CHD2 missense S866W NM_001271 20-PARBIU CHD2 MISSENSE SNP Somatic 8 0.342 SQHIGH 24 35 59 1 61 62 Cosmic_Gene C C G C C TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 1106 15 93521483 93521483 76 AML diagnosis snv MED1 silent A654A NM_004774 20-PARBIU MED1 SYNONYMOUS SNP Somatic 8 0.342 SQHIGH 37 42 79 0 87 87 Cosmic_Gene G G C G G TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 5469 17 37566512 37566512 145 AML diagnosis snv BAIAP2 missense R316H NM_017450 20-PARBIU BAIAP2 MISSENSE SNP Somatic -7 0.066 SQHIGH 27 19 46 1 37 38 G G A G G TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 10458 17 79077789 79077789 80 AML diagnosis snv HMG20B splice P50S NM_006339 20-PARBIU HMG20B MISSENSE SNP Somatic 15 0.779 SQHIGH 12 18 30 0 31 31 C C T C C TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 10362 19 3574381 3574381 43 AML diagnosis snv U2AF1 missense R156H NM_006758 20-PARBIU U2AF1 MISSENSE SNP Somatic PFAM:PF00642:zf-CCCH 15 0.779 SQHIGH 21 20 41 0 39 39 C C T C C TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 7307 21 44514780 44514780 76 AML diagnosis snv ZBTB33 nonsense G29* NM_006777 20-PARBIU ZBTB33 NONSENSE SNP Somatic PFAM:PF00651:BTB 14 0.691 SQHIGH 18 22 40 1 53 54 Cosmic_Gene G G T G G TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 10009 X 119387355 119387355 68 AML relapse snv PPIH splice_region R52_E4splice_region NM_006347 20-PARBRA PPIH ACCEPTOR SNP dbsnp.132:rs111227917 Somatic -10 0.049 SQHIGH 4 16 20 0 37 37 C C T C C TARGET-20-PARBRA-04A-02D TARGET-20-PARBRA-14A-01D 10465 1 43125184 43125184 19 AML relapse snv APEH splice_region G508_E16splice_region NM_001640 20-PARBRA APEH INTRON SNP Somatic -5 0.077 SQHIGH 7 28 35 1 39 40 Cosmic_Gene T T G T T TARGET-20-PARBRA-04A-02D TARGET-20-PARBRA-14A-01D 327 3 49719246 49719246 18 AML relapse snv COL21A1 missense D264Y NM_030820 20-PARBRA COL21A1 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin -2 0.104 SQHIGH 6 18 24 1 28 29 Cosmic_Gene C C A C C TARGET-20-PARBRA-04A-02D TARGET-20-PARBRA-14A-01D 81578 6 56035777 56035777 16 AML relapse snv KHDC3L nonsense R78* NM_001017361 20-PARBRA KHDC3L NONSENSE SNP Somatic 6 0.260 SQHIGH 22 31 53 0 73 73 Cosmic_Gene C C T C C TARGET-20-PARBRA-04A-02D TARGET-20-PARBRA-14A-01D 154288 6 74072880 74072880 96 AML relapse snv CTTNBP2 missense R283P NM_033427 20-PARBRA CTTNBP2 MISSENSE SNP Somatic 17 0.891 SQHIGH 47 57 104 0 131 131 Cosmic_Gene C C G C C TARGET-20-PARBRA-04A-02D TARGET-20-PARBRA-14A-01D 83992 7 117432402 117432402 199 AML relapse snv TAF1L missense G1803S NM_153809 20-PARBRA TAF1L MISSENSE SNP Somatic 5 0.227 SQHIGH 16 39 55 0 98 98 Cosmic_Gene C C T C C TARGET-20-PARBRA-04A-02D TARGET-20-PARBRA-14A-01D 138474 9 32630171 32630171 78 AML relapse mnv HNRNPUL1 splice_region R191_E3splice_region NM_007040 20-PARBRA HNRNPUL1 INTRON Sub Somatic -10 0.282 SQHIGH 9 46 55 1 70 71 Cosmic_Gene ATGA ATGA TAAG ATGA ATGA TARGET-20-PARBRA-04A-02D TARGET-20-PARBRA-14A-01D 11100 19 41778149 41778152 26 AML diagnosis snv NRAS missense Q61K NM_002524 20-PARBRA NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 1 0.154 SQHIGH 12 13 25 0 19 19 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 4893 1 115256530 115256530 36 AML diagnosis snv DENND1B missense G632E NM_001195215 20-PARBRA DENND1B MISSENSE SNP Somatic 13 0.621 SQHIGH 19 27 46 0 33 33 C C T C C TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 163486 1 197480023 197480023 53 AML diagnosis snv IWS1 missense R23Q NM_017969 20-PARBRA IWS1 MISSENSE SNP Somatic 5 0.239 SQHIGH 19 31 50 0 56 56 Cosmic_Gene C C T C C TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 55677 2 128281334 128281334 72 AML diagnosis snv TTN missense D29010N NM_133378 20-PARBRA TTN|LOC100506866 MISSENSE|INTRON SNP Somatic 8 0.346 SQHIGH 26 25 51 0 45 45 Cosmic_Gene C C T C C TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 7273|100506866 2 179411423 179411423 89 AML diagnosis snv SLC1A3 silent N275N NM_001166695 20-PARBRA SLC1A3 SYNONYMOUS SNP Somatic PFAM:PF00375:SDF 10 0.441 SQHIGH 15 32 47 1 46 47 C C T C C TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 6507 5 36677251 36677251 41 AML diagnosis snv COL21A1 missense D264Y NM_030820 20-PARBRA COL21A1 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin -1 0.124 SQHIGH 14 16 30 1 28 29 Cosmic_Gene C C A C C TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 81578 6 56035777 56035777 40 AML diagnosis snv KHDC3L nonsense R78* NM_001017361 20-PARBRA KHDC3L NONSENSE SNP Somatic 10 0.441 SQHIGH 13 22 35 0 73 73 Cosmic_Gene C C T C C TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 154288 6 74072880 74072880 71 AML diagnosis snv CTTNBP2 missense R283P NM_033427 20-PARBRA CTTNBP2 MISSENSE SNP Somatic 7 0.307 SQHIGH 32 41 73 0 131 131 Cosmic_Gene C C G C C TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 83992 7 117432402 117432402 167 AML diagnosis snv CCDC168 missense R2140Q NM_001146197 20-PARBRA CCDC168 MISSENSE SNP dbsnp.127:rs41281664 Somatic 3 0.191 SQHIGH 17 26 43 0 40 40 C C T C C TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 643677 13 103396628 103396628 57 AML diagnosis snv CHKB-CPT1B EXON E19_exon NM_004377 20-PARBRA CPT1B|CHKB-CPT1B UTR3|UTR SNP Somatic -6 0.074 SQHIGH 3 14 17 0 30 30 Cosmic_Gene T T A T T TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 1375|386593 22 51007363 51007363 14 AML diagnosis mnv FAM47C missense R800S NM_001013736 20-PARBRA FAM47C MISSENSE Sub Somatic -21 0.103 4 12 16 0 37 37 Cosmic_Gene CGC CGC TCT CGC CGC TARGET-20-PARBRA-09A-02D TARGET-20-PARBRA-14A-01D 442444 X 37028881 37028883 22 AML diagnosis snv PSRC1 missense L134F NM_032636 20-PARBTC PSRC1 MISSENSE SNP Somatic -8 0.049 SQHIGH 9 76 85 1 83 84 C C G C C TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 84722 1 109824358 109824358 20 AML diagnosis snv AMOTL2 silent T45T NM_016201 20-PARBTC AMOTL2 SYNONYMOUS SNP Somatic 0 0.098 SQHIGH 4 15 19 0 29 29 Cosmic_Gene A A T A A TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 51421 3 134090141 134090141 17 AML diagnosis snv NCEH1 missense D120G NM_001146276 20-PARBTC NCEH1 INTRON,UTR5,MISSENSE SNP Somatic -8 0.049 SQHIGH 12 70 82 1 60 61 T T C T T TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 57552 3 172365780 172365780 22 AML diagnosis snv LETM1 missense I416T NM_012318 20-PARBTC LETM1 MISSENSE SNP Somatic PFAM:PF07766:LETM1 -2 0.081 SQHIGH 4 23 27 0 37 37 Cosmic_Gene A A G A A TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 3954 4 1825456 1825456 16 AML diagnosis snv SYCE1 silent Q234Q NM_130784 20-PARBTC SYCE1 SYNONYMOUS SNP Somatic -1 0.089 SQHIGH 6 12 18 1 23 24 Cosmic_Gene T T C T T TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 93426 10 135369121 135369121 18 AML diagnosis snv KCNQ1OT1 EXON E11_exon NM_000218 20-PARBTC KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic -2 0.081 SQHIGH 4 31 35 0 38 38 Cosmic_Gene G G A G G TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 3784|10984 11 2712007 2712007 13 AML diagnosis snv TTC9C silent S156S NM_173810 20-PARBTC TTC9C SYNONYMOUS SNP Somatic 0 0.098 SQHIGH 8 25 33 0 18 18 Cosmic_Gene C C T C C TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 283237 11 62505806 62505806 17 AML diagnosis snv HDAC5 silent G668G NM_005474 20-PARBTC HDAC5 SYNONYMOUS SNP Somatic -10 0.042 SQHIGH 4 15 19 0 24 24 Cosmic_Gene G G A G G TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 10014 17 42163986 42163986 15 AML diagnosis complex LOC643923 EXON E1_exon NM_018712 20-PARBTC ELMOD1|LOC643923 INTRON|UTR Sub Somatic -6 0.316 SQHIGH 17 39 56 1 33 34 GCTG GCTG GTC GCTG GCTG TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 55531|643923 11 107462649 107462652 30 AML diagnosis mnv RTL1 missense Q199_L200>RI NM_001134888 20-PARBTC RTL1|MIR136|MIR432 MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM Sub Somatic -10 0.249 SQHIGH 10 77 87 0 82 82 Cosmic_Gene CAGTT CAGTT GATCC CAGTT CAGTT TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 388015|406927|574451 14 101350526 101350530 30 AML relapse snv UBXN11 missense S2T NM_145345 20-PARBXE UBXN11 MISSENSE SNP Somatic 4 0.176 SQHIGH 14 50 64 0 67 67 Cosmic_Gene C C G C C TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 91544 1 26629370 26629370 47 AML relapse snv C4orf17 missense S321F NM_032149 20-PARBXE C4orf17 MISSENSE SNP Somatic -5 0.070 SQHIGH 4 20 24 0 27 27 C C T C C TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 84103 4 100463148 100463148 14 AML relapse snv PCDHGA2 missense T475M NM_018915 20-PARBXE PCDHGA3|PCDHGA2|PCDHGA1 TSS-UPSTREAM|MISSENSE|INTRON SNP Somatic 5 0.197 SQHIGH 15 47 62 0 50 50 Cosmic_Gene C C T C C TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 56112|56113|56114 5 140719962 140719962 42 AML relapse snv CYCS silent V84V NM_018947 20-PARBXE CYCS SYNONYMOUS SNP Somatic PFAM:PF00034:Cytochrom_C -2 0.092 SQHIGH 11 34 45 1 57 58 Cosmic_Gene G G A G G TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 54205 7 25163386 25163386 34 AML relapse snv PTPN11 missense D61Y NM_002834 20-PARBXE PTPN11 MISSENSE SNP Somatic 14 0.616 SQHIGH 8 18 26 0 40 40 COSMIC:mut:13011 Cosmic_Gene G G T G G TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 5781 12 112888165 112888165 36 AML relapse snv CTSH silent A238A NM_004390 20-PARBXE CTSH SYNONYMOUS SNP Somatic 7 0.257 SQHIGH 19 60 79 0 50 50 Cosmic_Gene C C T C C TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 1512 15 79217768 79217768 45 AML relapse snv NLRP12 missense D297Y NM_001277126 20-PARBXE NLRP12 TSS-UPSTREAM,MISSENSE SNP Somatic PFAM:PF00485:PRK -38 0.001 3 14 17 0 34 34 Cosmic_Gene C C A C C TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 91662 19 54314024 54314024 15 AML relapse snv ZNF865 silent G769G NM_001195605 20-PARBXE ZNF865 SYNONYMOUS SNP Somatic 10 0.368 SQHIGH 10 16 26 0 17 17 G G A G G TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 100507290 19 56127291 56127291 26 AML relapse mnv HEATR3 missense D324_D325>EA NM_182922 20-PARBXE HEATR3 MISSENSE Sub Somatic -10 0.268 SQHIGH 5 14 19 1 40 41 Cosmic_Gene TGA TGA GGC TGA TGA TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 55027 16 50112860 50112862 20 AML diagnosis snv PTPN11 missense D61Y NM_002834 20-PARBXE PTPN11 MISSENSE SNP Somatic 14 0.573 SQHIGH 11 26 37 0 40 40 COSMIC:mut:13011 Cosmic_Gene G G T G G TARGET-20-PARBXE-09A-01D TARGET-20-PARBXE-14A-01D 5781 12 112888165 112888165 39 AML diagnosis snv C17orf74 silent S479S NM_175734 20-PARBXE C17orf74 SYNONYMOUS SNP Somatic -5 0.060 SQHIGH 6 24 30 0 38 38 A A T A A TARGET-20-PARBXE-09A-01D TARGET-20-PARBXE-14A-01D 201243 17 7330747 7330747 23 AML diagnosis mnv HDGFRP3 missense N42L NM_016073 20-PARBXE HDGFRP3 MISSENSE Sub Somatic -10 0.243 SQHIGH 8 46 54 0 31 31 TT TT AG TT TT TARGET-20-PARBXE-09A-01D TARGET-20-PARBXE-14A-01D 50810 15 83832787 83832788 17 AML diagnosis snv SCCPDH missense L241P NM_016002 20-PARCCH SCCPDH MISSENSE SNP Somatic PFAM:PF03435:Saccharop_dh -7 0.052 SQHIGH 9 34 43 1 48 49 Cosmic_Gene T T C T T TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 51097 1 246922362 246922362 24 AML diagnosis snv FER1L5 silent T575T NM_001293083 20-PARCCH FER1L5 SYNONYMOUS SNP Somatic -2 0.075 SQHIGH 15 79 94 1 35 36 Cosmic_Gene C C T C C TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 90342 2 97350119 97350119 15 AML diagnosis snv WDR55 missense T272P NM_017706 20-PARCCH WDR55 MISSENSE SNP Somatic -28 0.007 12 75 87 0 32 32 COSMIC:mut:73282 Cosmic_Gene A A C A A TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 54853 5 140048817 140048817 17 AML diagnosis snv RNF19A nonsense S787* NM_183419 20-PARCCH RNF19A NONSENSE SNP Somatic -3 0.069 SQHIGH 6 62 68 0 58 58 Cosmic_Gene G G T G G TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 25897 8 101270941 101270941 17 AML diagnosis snv TRPS1 missense Q980E NM_014112 20-PARCCH TRPS1 MISSENSE SNP Somatic -9 0.044 SQHIGH 6 30 36 0 26 26 Cosmic_Gene G G C G G TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 7227 8 116427198 116427198 15 AML diagnosis snv FGFBP3 missense S48P NM_152429 20-PARCCH FGFBP3 MISSENSE SNP Somatic PFAM:PF06473:FGF-BP1 -9 0.044 SQHIGH 4 7 11 0 15 15 A A G A A TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 143282 10 93668585 93668585 17 AML diagnosis snv NEURL4 silent G16G NM_032442 20-PARCCH NEURL4 SYNONYMOUS SNP Somatic -7 0.052 SQHIGH 6 20 26 0 17 17 Cosmic_Gene T T C T T TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 84461 17 7232584 7232584 14 AML diagnosis snv RYR1 missense R727H NM_000540 20-PARCCH RYR1 MISSENSE SNP Somatic PFAM:PF00622:SPRY 4 0.142 SQHIGH 25 46 71 0 36 36 Cosmic_Gene G G A G G TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 6261 19 38949798 38949798 52 AML diagnosis mnv FER1L5 missense S576_N577>SD NM_001293083 20-PARCCH FER1L5 MISSENSE Sub Somatic -7 0.308 SQHIGH 15 80 95 1 42 43 Cosmic_Gene CA CA AG CA CA TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 90342 2 97350122 97350123 18 AML diagnosis mnv PARK2 missense P345R NM_004562 20-PARCCH PARK2 MISSENSE Sub Somatic PFAM:PF01485:IBR 2 0.814 SQHIGH 10 26 36 0 24 24 Cosmic_Gene AG AG CC AG AG TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 5071 6 161969934 161969935 25 AML diagnosis mnv TRPS1 missense R981E NM_014112 20-PARCCH TRPS1 MISSENSE Sub Somatic -7 0.308 SQHIGH 6 32 38 0 28 28 Cosmic_Gene CT CT TC CT CT TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 7227 8 116427194 116427195 15 AML diagnosis mnv PPRC1 nonsense A1087_E1088>A* NM_015062 20-PARCCH PPRC1 NONSENSE Sub Somatic -1 0.564 SQHIGH 14 56 70 0 28 28 Cosmic_Gene TG TG AT TG TG TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 23082 10 103901526 103901527 22 AML diagnosis mnv NUDT22 missense L303_*304>AL NM_032344 20-PARCCH TRPT1|DNAJC4|NUDT22|LOC100653007|VEGFB TSS-UPSTREAM|TSS-UPSTREAM|NONSTOP|INTRON|TSS-UPSTREAM Sub Somatic -9 0.277 SQHIGH 22 139 161 0 93 93 CTCTG CTCTG GCCCT CTCTG CTCTG TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 83707|3338|84304|100653007|7423 11 63997457 63997461 46 AML diagnosis mnv HDGFRP3 missense N42L NM_016073 20-PARCCH HDGFRP3 MISSENSE Sub Somatic -8 0.292 SQHIGH 7 30 37 1 39 40 GTT GTT CAG GTT GTT TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 50810 15 83832786 83832788 17 AML relapse snv DEDD missense L89Q NM_032998 20-PARCCH DEDD|NIT1 MISSENSE|UTR3 SNP Somatic 3 0.109 SQHIGH 8 13 21 0 28 28 A A T A A TARGET-20-PARCCH-04A-02D TARGET-20-PARCCH-14A-02D 9191|4817 1 161093987 161093987 33 AML relapse snv ACKR3 missense V310F NM_020311 20-PARCCH ACKR3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -1 0.075 SQHIGH 4 20 24 0 35 35 Cosmic_Gene G G T G G TARGET-20-PARCCH-04A-02D TARGET-20-PARCCH-14A-02D 57007 2 237490036 237490036 16 AML diagnosis snv NRAS missense Q61R NM_002524 20-PARCEC NRAS MISSENSE SNP dbsnp.120:rs11554290 Somatic 6 0.205 SQHIGH 8 12 20 0 27 27 COSMIC:mut:584 Cosmic_Gene T T C T T TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 4893 1 115256529 115256529 34 AML diagnosis snv STAB1 missense G1059R NM_015136 20-PARCEC STAB1 MISSENSE SNP Somatic PFAM:PF02469:Fasciclin 12 0.401 SQHIGH 14 19 33 0 29 29 Cosmic_Gene G G C G G TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 23166 3 52547162 52547162 46 AML diagnosis snv CLDND1 missense S108G NM_001040181 20-PARCEC CLDND1 MISSENSE SNP Somatic -10 0.049 SQHIGH 4 19 23 0 39 39 Cosmic_Gene T T C T T TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 56650 3 98237810 98237810 18 AML diagnosis snv LOC101927157 EXON E1_exon NM_152995 20-PARCEC NFXL1 UTR5 SNP Somatic 12 0.401 SQHIGH 18 30 48 0 39 39 Cosmic_Gene T T C T T TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 152518 4 47916621 47916621 54 AML diagnosis snv RUFY1 missense R453H NM_025158 20-PARCEC RUFY1 MISSENSE SNP Somatic -9 0.053 SQHIGH 9 15 24 1 20 21 Cosmic_Gene G G A G G TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 80230 5 179020591 179020591 20 AML diagnosis snv ASZ1 missense D278N NM_130768 20-PARCEC ASZ1 MISSENSE,UTR SNP Somatic PFAM:PF07647:SAM_2 16 0.708 SQHIGH 12 16 28 0 24 24 Cosmic_Gene C C T C C TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 136991 7 117022179 117022179 38 AML diagnosis snv ZC2HC1C missense R132Q NM_024643 20-PARCEC ZC2HC1C MISSENSE SNP Somatic 6 0.205 SQHIGH 11 33 44 1 47 48 Cosmic_Gene G G A G G TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 79696 14 75537671 75537671 30 AML diagnosis snv BCL11B missense Q848K NM_138576 20-PARCEC BCL11B MISSENSE SNP Somatic -6 0.068 SQHIGH 3 15 18 0 32 32 Cosmic_Gene G G T G G TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 64919 14 99640631 99640631 14 AML diagnosis snv RHBDL1 missense G246D NM_001278720 20-PARCEC STUB1|RHBDL1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01694:Rhomboid 15 0.616 SQHIGH 10 13 23 0 24 24 G G A G G TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 10273|9028 16 727507 727507 37 AML diagnosis snv RANBP10 missense G239D NM_020850 20-PARCEC RANBP10 MISSENSE SNP Somatic 19 0.955 SQHIGH 18 17 35 1 61 62 Cosmic_Gene C C T C C TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 57610 16 67768821 67768821 84 AML diagnosis snv HYDIN missense D3744N NM_001270974 20-PARCEC HYDIN MISSENSE SNP Somatic 5 0.185 SQHIGH 14 70 85 0 75 75 Cosmic_Gene C C T C C TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 54768 16 70902553 70902553 41 AML diagnosis snv ADAMTS18 missense R681Q NM_199355 20-PARCEC ADAMTS18 MISSENSE SNP Somatic 16 0.708 SQHIGH 12 17 29 0 28 28 Cosmic_Gene C C T C C TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 170692 16 77356354 77356354 41 AML diagnosis snv C5AR2 silent A148A NM_018485 20-PARCEC C5AR2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 10 0.315 SQHIGH 16 25 41 0 27 27 Cosmic_Gene G G A G G TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 27202 19 47844500 47844500 42 AML relapse snv SPCS1 splice M79_E1splice NM_014041 20-PARCEC GLT8D1|SPCS1 TSS-UPSTREAM|DISRUPT SNP Somatic 6 0.206 SQHIGH 7 28 35 0 22 22 G G T G G TARGET-20-PARCEC-04A-02D TARGET-20-PARCEC-10A-01D 55830|28972 3 52740299 52740299 16 AML relapse snv LOC101927157 EXON E1_exon NM_152995 20-PARCEC NFXL1 UTR5 SNP Somatic -7 0.062 SQHIGH 7 20 27 0 39 39 Cosmic_Gene T T C T T TARGET-20-PARCEC-04A-02D TARGET-20-PARCEC-10A-01D 152518 4 47916621 47916621 29 AML relapse snv ASZ1 missense D278N NM_130768 20-PARCEC ASZ1 MISSENSE,UTR SNP Somatic PFAM:PF07647:SAM_2 -3 0.088 SQHIGH 8 25 33 0 24 24 Cosmic_Gene C C T C C TARGET-20-PARCEC-04A-02D TARGET-20-PARCEC-10A-01D 136991 7 117022179 117022179 21 AML relapse snv CAPN5 splice_region G56_E3splice_region NM_004055 20-PARCEC CAPN5 ACCEPTOR SNP Somatic 5 0.185 SQHIGH 8 21 29 0 29 29 C C T C C TARGET-20-PARCEC-04A-02D TARGET-20-PARCEC-10A-01D 726 11 76804723 76804723 26 AML relapse snv ZC2HC1C missense R132Q NM_024643 20-PARCEC ZC2HC1C MISSENSE SNP Somatic -3 0.088 SQHIGH 8 35 43 1 47 48 Cosmic_Gene G G A G G TARGET-20-PARCEC-04A-02D TARGET-20-PARCEC-10A-01D 79696 14 75537671 75537671 20 AML relapse snv RANBP10 missense G239D NM_020850 20-PARCEC RANBP10 MISSENSE SNP Somatic 7 0.226 SQHIGH 8 27 35 1 61 62 Cosmic_Gene C C T C C TARGET-20-PARCEC-04A-02D TARGET-20-PARCEC-10A-01D 57610 16 67768821 67768821 30 AML relapse snv GRIN2C missense Q779H NM_000835 20-PARCEC GRIN2C MISSENSE SNP Somatic PFAM:PF00060:Lig_chan -2 0.097 SQHIGH 9 32 41 0 46 46 Cosmic_Gene C C A C C TARGET-20-PARCEC-04A-02D TARGET-20-PARCEC-10A-01D 2905 17 72842218 72842218 32 AML relapse snv C5AR2 silent A148A NM_018485 20-PARCEC C5AR2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 -4 0.080 SQHIGH 5 18 23 0 27 27 Cosmic_Gene G G A G G TARGET-20-PARCEC-04A-02D TARGET-20-PARCEC-10A-01D 27202 19 47844500 47844500 18 AML relapse snv TBC1D17 splice_region E514_E14splice_region NM_024682 20-PARCEC MIR4750|TBC1D17 TSS-UPSTREAM|DONOR SNP Somatic -9 0.053 SQHIGH 9 31 40 0 34 34 G G A G G TARGET-20-PARCEC-04A-02D TARGET-20-PARCEC-10A-01D 100616314|79735 19 50390833 50390833 26 AML relapse snv PLXNA4 missense L1067P NM_020911 20-PARCUK PLXNA4 MISSENSE SNP Somatic -10 0.040 SQHIGH 12 40 52 2 53 55 Cosmic_Gene A A G A A TARGET-20-PARCUK-04A-02D TARGET-20-PARCUK-14A-02D 91584 7 131866908 131866908 25 AML relapse snv FLT3 missense D835Y NM_004119 20-PARCUK FLT3 MISSENSE SNP dbsnp.133:rs121913488 Somatic PFAM:PF03109:ABC1 -17 0.020 8 66 74 0 58 58 COSMIC:mut:783 Cosmic_Gene C C A C C TARGET-20-PARCUK-04A-02D TARGET-20-PARCUK-14A-02D 2322 13 28592642 28592642 21 AML diagnosis snv ERICH3 silent T1160T NM_001002912 20-PARCUK ERICH3 SYNONYMOUS SNP Somatic 4 0.148 SQHIGH 25 46 71 0 76 76 Cosmic_Gene C C T C C TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 127254 1 75037914 75037914 91 AML diagnosis snv SNTG2 missense P159L NM_018968 20-PARCUK SNTG2 MISSENSE SNP Somatic 12 0.398 SQHIGH 22 25 47 0 31 31 Cosmic_Gene C C T C C TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 54221 2 1161298 1161298 60 AML diagnosis snv EOMES silent Y636Y NM_005442 20-PARCUK EOMES SYNONYMOUS SNP Somatic 15 0.638 SQHIGH 14 19 33 0 49 49 Cosmic_Gene G G A G G TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 8320 3 27758714 27758714 64 AML diagnosis snv MGAM missense R182C NM_004668 20-PARCUK MGAM MISSENSE SNP dbsnp.134:rs146995745 Somatic 16 0.716 SQHIGH 14 10 24 1 24 25 Cosmic_Gene C C T C C TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 8972 7 141720869 141720869 45 AML diagnosis snv HIP1R silent C728C NM_003959 20-PARCUK HIP1R SYNONYMOUS SNP Somatic 11 0.346 SQHIGH 10 24 34 1 34 35 Cosmic_Gene C C T C C TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 9026 12 123343633 123343633 26 AML diagnosis snv CMIP missense E680K NM_198390 20-PARCUK CMIP MISSENSE SNP Somatic 2 0.122 SQHIGH 16 4 20 0 34 34 G G A G G TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 80790 16 81737637 81737637 96 AML diagnosis snv SEZ6 missense A848T NM_178860 20-PARCUK SEZ6 MISSENSE SNP Somatic 9 0.270 SQHIGH 20 37 57 0 52 52 Cosmic_Gene C C T C C TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 124925 17 27284213 27284213 65 AML diagnosis snv MYO18A silent P327P NM_078471 20-PARCUK MYO18A SYNONYMOUS SNP Somatic -8 0.050 SQHIGH 6 25 31 0 33 33 A A G A A TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 399687 17 27492978 27492978 20 AML diagnosis snv PHKA1 missense R497P NM_002637 20-PARCUK PHKA1 MISSENSE SNP Somatic 12 0.398 SQHIGH 13 12 25 0 26 26 Cosmic_Gene C C G C C TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 5255 X 71856206 71856206 50 AML diagnosis mnv ZCCHC11 missense G1518_S1519>GL NM_001009881 20-PARCUK ZCCHC11 MISSENSE Sub Somatic -9 0.249 SQHIGH 8 28 36 0 43 43 Cosmic_Gene ACTG ACTG CAAT ACTG ACTG TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 23318 1 52896839 52896842 29 AML diagnosis mnv FBXW4P1 EXON E4_exon NM_004327 20-PARCUK BCR|FBXW4P1 INTRON|UTR Sub Somatic 0 0.582 SQHIGH 12 59 71 1 76 77 Cosmic_Gene AGG AGG GAA AGG AGG TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 613|26226 22 23605227 23605229 32 AML diagnosis complex BRCC3 frameshift V21_C22fs NM_024332 20-PARCUK BRCC3|MTCP1|MTCP1NB FRAMESHIFT|TSS-UPSTREAM|TSS-UPSTREAM Sub Somatic 2 0.760 SQHIGH 10 25 35 0 24 24 Cosmic_Gene TTT TTT TGGTGTG TTT TTT TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 79184|4515|100272147 X 154299864 154299866 25 AML diagnosis snv COL16A1 splice_region L942_E43splice_region NM_001856 20-PARCVS COL16A1 INTRON SNP Somatic -7 0.054 SQHIGH 5 50 55 0 44 44 Cosmic_Gene T T A T T TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 1307 1 32140852 32140852 13 AML diagnosis snv SATB2 silent A82A NM_015265 20-PARCVS SATB2 SYNONYMOUS SNP dbsnp.134:rs146889022 Somatic -7 0.054 SQHIGH 9 54 63 0 78 78 Cosmic_Gene G G A G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 23314 2 200298161 200298161 33 AML diagnosis snv GPC1 silent E84E NM_002081 20-PARCVS LOC100505507|GPC1|PP14571 UTR|SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF01153:Glypican -5 0.063 SQHIGH 6 24 30 1 31 32 Cosmic_Gene G G A G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 100505507|2817|100130449 2 241398532 241398532 14 AML diagnosis snv TMEM108 missense E452K NM_023943 20-PARCVS TMEM108 MISSENSE SNP Somatic -7 0.054 SQHIGH 6 36 42 0 36 36 Cosmic_Gene G G A G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 66000 3 133099909 133099909 17 AML diagnosis snv SPSB4 silent P232P NM_080862 20-PARCVS SPSB4 SYNONYMOUS SNP Somatic 5 0.177 SQHIGH 16 49 65 1 52 53 C C T C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 92369 3 140865985 140865985 36 AML diagnosis snv ZGRF1 missense K1275R NM_018392 20-PARCVS ZGRF1 MISSENSE SNP Somatic 7 0.234 SQHIGH 6 17 23 0 23 23 T T C T T TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 55345 4 113507693 113507693 20 AML diagnosis snv RNF150 splice_region S400_E6splice_region NM_020724 20-PARCVS RNF150 INTRON SNP Somatic -8 0.049 SQHIGH 6 32 38 1 45 46 Cosmic_Gene A A G A A TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 57484 4 141832291 141832291 15 AML diagnosis snv GRIK2 silent F355F NM_021956 20-PARCVS GRIK2 SYNONYMOUS SNP Somatic PFAM:PF01094:ANF_receptor PFAM:PF02608:Bmp 8 0.264 SQHIGH 24 41 65 1 39 40 Cosmic_Gene C C T C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 2898 6 102247636 102247636 48 AML diagnosis snv GHRHR silent V290V NM_000823 20-PARCVS GHRHR SYNONYMOUS SNP Somatic PFAM:PF00002:7tm_2 3 0.142 SQHIGH 12 40 52 1 63 64 Cosmic_Gene C C T C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 2692 7 31014643 31014643 36 AML diagnosis snv ZNF804B missense N655K NM_181646 20-PARCVS ZNF804B MISSENSE SNP Somatic 15 0.694 SQHIGH 37 27 64 0 51 51 Cosmic_Gene C C A C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 219578 7 88964261 88964261 123 AML diagnosis snv CSMD1 missense G2046S NM_033225 20-PARCVS CSMD1 MISSENSE SNP Somatic 11 0.389 SQHIGH 14 27 41 0 30 30 Cosmic_Gene C C T C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 64478 8 3000092 3000092 38 AML diagnosis snv SLC7A2 missense H644N NM_003046 20-PARCVS SLC7A2 MISSENSE SNP Somatic PFAM:PF01490:Aa_trans 10 0.340 SQHIGH 11 33 44 0 55 55 Cosmic_Gene C C A C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 6542 8 17422491 17422491 42 AML diagnosis snv ATP6V0D2 missense V37L NM_152565 20-PARCVS ATP6V0D2 MISSENSE SNP Somatic PFAM:PF01992:vATP-synt_AC39 7 0.234 SQHIGH 18 43 61 0 48 48 G G C G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 245972 8 87111316 87111316 51 AML diagnosis snv TESK1 missense R595H NM_006285 20-PARCVS TESK1 MISSENSE SNP dbsnp.134:rs146243679 Somatic 5 0.177 SQHIGH 23 40 63 0 71 71 COSMIC:mut:98831 Cosmic_Gene G G A G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 7016 9 35609642 35609642 87 AML diagnosis snv ALDOB missense D156N NM_000035 20-PARCVS ALDOB MISSENSE SNP Somatic 15 0.694 SQHIGH 35 21 56 0 62 62 Cosmic_Gene C C T C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 229 9 104189838 104189838 149 AML diagnosis snv BRINP1 silent G417G NM_014618 20-PARCVS BRINP1 SYNONYMOUS SNP Somatic 17 0.879 SQHIGH 13 23 36 0 36 36 Cosmic_Gene G G T G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 1620 9 121930397 121930397 45 AML diagnosis snv ZNF37A nonsense C174* NM_001007094 20-PARCVS ZNF37A NONSENSE SNP Somatic 5 0.177 SQHIGH 11 36 47 0 49 49 Cosmic_Gene C C A C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 7587 10 38406601 38406601 37 AML diagnosis snv SLIT1 missense R476C NM_003061 20-PARCVS SLIT1 MISSENSE SNP Somatic 11 0.389 SQHIGH 46 54 100 1 94 95 Cosmic_Gene G G A G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 6585 10 98808751 98808751 147 AML diagnosis snv CCND2 missense P281T NM_001759 20-PARCVS CCND2 MISSENSE SNP Somatic -1 0.093 SQHIGH 8 19 27 0 20 20 Cosmic_Gene C C A C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 894 12 4409146 4409146 22 AML diagnosis snv KRAS missense G12D NM_033360 20-PARCVS KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 1 0.114 SQHIGH 6 33 39 0 37 37 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 3845 12 25398284 25398284 18 AML diagnosis snv HNRNPA1 missense D160E NM_002136 20-PARCVS HNRNPA1|CBX5 MISSENSE|TSS-UPSTREAM SNP Somatic 7 0.234 SQHIGH 10 28 38 2 61 63 Cosmic_Gene T T G T T TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 3178|23468 12 54676074 54676074 31 AML diagnosis snv DNAH9 splice_region Q1538_E20splice_region NM_001372 20-PARCVS DNAH9 DONOR SNP Somatic 10 0.340 SQHIGH 29 26 55 0 45 45 Cosmic_Gene C C A C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 1770 17 11593757 11593757 95 AML diagnosis snv TMEM11 missense S14R NM_003876 20-PARCVS TMEM11 MISSENSE,UTR SNP Somatic -5 0.063 SQHIGH 17 47 64 0 29 29 A A T A A TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 8834 17 21117424 21117424 31 AML diagnosis snv GAREM missense R204W NM_022751 20-PARCVS GAREM MISSENSE SNP Somatic PFAM:PF12736:CABIT 10 0.340 SQHIGH 19 26 45 1 80 81 Cosmic_Gene G G A G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 64762 18 29867950 29867950 86 AML diagnosis snv SUPT5H missense L1081Q NM_003169 20-PARCVS SUPT5H|TIMM50 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.103 SQHIGH 12 23 35 0 44 44 Cosmic_Gene T T A T T TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 6829|92609 19 39967017 39967017 48 AML diagnosis snv IGFL4 silent A33A NM_001002923 20-PARCVS IGFL4 SYNONYMOUS SNP Somatic 5 0.177 SQHIGH 23 21 44 0 52 52 C C T C C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 444882 19 46543646 46543646 96 AML diagnosis snv TMEM150B missense P50L NM_001085488 20-PARCVS TMEM150B MISSENSE SNP Somatic PFAM:PF10277:Frag1 4 0.159 SQHIGH 23 52 75 0 61 61 G G A G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 284417 19 55831806 55831806 67 AML diagnosis snv TMPRSS6 missense E697G NM_153609 20-PARCVS TMPRSS6 MISSENSE SNP Somatic -9 0.045 SQHIGH 8 26 34 0 35 35 Cosmic_Gene T T C T T TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 164656 22 37465163 37465163 27 AML diagnosis complex BSN frameshift A3814fs NM_003458 20-PARCVS BSN FRAMESHIFT Sub Somatic -8 0.300 SQHIGH 4 14 18 0 28 28 Cosmic_Gene TG TG TCA TG TG TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 8927 3 49701030 49701031 17 AML diagnosis mnv KPNA7 missense L369_P370>FS NM_001145715 20-PARCVS KPNA7 MISSENSE Sub Somatic -6 0.343 SQHIGH 11 30 41 0 36 36 Cosmic_Gene GC GC AG GC GC TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 402569 7 98782578 98782579 33 AML relapse snv USH2A splice_region A1466_E20splice_region NM_007123 20-PARCVS USH2A DONOR SNP Somatic 9 0.317 SQHIGH 8 9 17 0 20 20 Cosmic_Gene G G T G G TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 7399 1 216363559 216363559 32 AML relapse snv EPHX1 missense R98Q NM_000120 20-PARCVS EPHX1 MISSENSE SNP Somatic PFAM:PF06441:EHN 3 0.148 SQHIGH 14 58 72 0 93 93 Cosmic_Gene G G A G G TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 2052 1 226019589 226019589 54 AML relapse snv RYR2 missense Q3844K NM_001035 20-PARCVS RYR2 MISSENSE SNP Somatic PFAM:PF08454:RIH_assoc 14 0.607 SQHIGH 20 29 49 0 54 54 Cosmic_Gene C C A C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 6262 1 237934160 237934160 76 AML relapse snv PLCL1 missense L497M NM_006226 20-PARCVS PLCL1 MISSENSE SNP Somatic -8 0.051 SQHIGH 4 40 44 0 49 49 Cosmic_Gene T T A T T TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 5334 2 198949730 198949730 13 AML relapse snv PHACTR1 missense K497T NM_030948 20-PARCVS PHACTR1 MISSENSE SNP Somatic 13 0.531 SQHIGH 21 22 43 0 52 52 A A C A A TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 221692 6 13278542 13278542 88 AML relapse snv HLA-DRB1 missense V67A NM_002124 20-PARCVS HLA-DRB1 MISSENSE SNP dbsnp.124:rs17878951 Somatic PFAM:PF00969:MHC_II_beta -9 0.047 SQHIGH 4 32 36 0 40 40 Cosmic_Gene A A G A A TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 3123 6 32552056 32552056 13 AML relapse snv FAM20C silent P433P NM_020223 20-PARCVS FAM20C SYNONYMOUS SNP Somatic 8 0.280 SQHIGH 18 24 42 1 69 70 G G A G G TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 56975 7 296665 296665 77 AML relapse snv ZNF804B missense N655K NM_181646 20-PARCVS ZNF804B MISSENSE SNP Somatic 10 0.360 SQHIGH 36 38 74 0 51 51 Cosmic_Gene C C A C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 219578 7 88964261 88964261 103 AML relapse snv RNF148 missense K299N NM_198085 20-PARCVS RNF133|CADPS2|RNF148 TSS-UPSTREAM|INTRON|MISSENSE SNP Somatic 5 0.185 SQHIGH 7 21 28 0 38 38 Cosmic_Gene C C G C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 168433|93664|378925 7 122341908 122341908 28 AML relapse snv CNTNAP2 missense E1305Q NM_014141 20-PARCVS CNTNAP2 MISSENSE SNP Somatic 9 0.317 SQHIGH 22 49 71 0 57 57 Cosmic_Gene G G C G G TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 26047 7 148112625 148112625 64 AML relapse snv TESK1 missense R595H NM_006285 20-PARCVS TESK1 MISSENSE SNP dbsnp.134:rs146243679 Somatic 11 0.408 SQHIGH 21 27 48 0 71 71 COSMIC:mut:98831 Cosmic_Gene G G A G G TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 7016 9 35609642 35609642 97 AML relapse snv ALDOB missense D156N NM_000035 20-PARCVS ALDOB MISSENSE SNP Somatic 17 0.875 SQHIGH 23 22 45 0 62 62 Cosmic_Gene C C T C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 229 9 104189838 104189838 105 AML relapse snv SVEP1 silent S1504S NM_153366 20-PARCVS SVEP1 SYNONYMOUS SNP Somatic PFAM:PF00354:Pentaxin 13 0.531 SQHIGH 29 33 62 0 71 71 Cosmic_Gene C C T C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 79987 9 113205952 113205952 116 AML relapse snv MALRD1 missense L1222S NM_001142308 20-PARCVS MALRD1 MISSENSE SNP Somatic -3 0.078 SQHIGH 6 15 21 0 27 27 T T C T T TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 340895 10 19616580 19616580 24 AML relapse snv SLIT1 missense R476C NM_003061 20-PARCVS SLIT1 MISSENSE SNP Somatic 2 0.133 SQHIGH 36 54 90 1 94 95 Cosmic_Gene G G A G G TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 6585 10 98808751 98808751 118 AML relapse snv H1FNT silent N85N NM_181788 20-PARCVS H1FNT SYNONYMOUS SNP Somatic 9 0.317 SQHIGH 23 35 59 0 67 67 Cosmic_Gene C C T C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 341567 12 48723329 48723329 89 AML relapse snv HNRNPA1 missense D160E NM_002136 20-PARCVS HNRNPA1|CBX5 MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.218 SQHIGH 18 38 56 2 61 63 Cosmic_Gene T T G T T TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 3178|23468 12 54676074 54676074 47 AML relapse snv DNAH9 splice_region Q1538_E20splice_region NM_001372 20-PARCVS DNAH9 DONOR SNP Somatic 5 0.185 SQHIGH 16 35 51 0 45 45 Cosmic_Gene C C A C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 1770 17 11593757 11593757 50 AML relapse snv USP22 missense Q260R NM_015276 20-PARCVS USP22 MISSENSE SNP Somatic PFAM:PF00443:UCH 3 0.148 SQHIGH 12 14 26 0 35 35 Cosmic_Gene T T C T T TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 23326 17 20919124 20919124 53 AML relapse snv RNF213 silent A2457A NM_001256071 20-PARCVS RNF213 SYNONYMOUS SNP Somatic -7 0.056 SQHIGH 4 33 37 0 43 43 Cosmic_Gene A A G A A TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 57674 17 78319506 78319506 14 AML relapse snv GAREM missense R204W NM_022751 20-PARCVS GAREM MISSENSE SNP Somatic PFAM:PF12736:CABIT 6 0.218 SQHIGH 20 31 51 1 80 81 Cosmic_Gene G G A G G TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 64762 18 29867950 29867950 83 AML relapse snv SUPT5H missense L1081Q NM_003169 20-PARCVS SUPT5H|TIMM50 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.108 SQHIGH 9 21 30 0 44 44 Cosmic_Gene T T A T T TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 6829|92609 19 39967017 39967017 39 AML relapse snv IGFL4 silent A33A NM_001002923 20-PARCVS IGFL4 SYNONYMOUS SNP Somatic 5 0.185 SQHIGH 18 24 42 0 52 52 C C T C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 444882 19 46543646 46543646 74 AML relapse snv SCAF1 missense R648W NM_021228 20-PARCVS SCAF1 MISSENSE SNP Somatic -1 0.097 SQHIGH 11 19 30 0 42 42 C C T C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 58506 19 50155588 50155588 47 AML relapse snv AP5S1 missense R140W NM_018347 20-PARCVS AP5S1 MISSENSE SNP Somatic 15 0.701 SQHIGH 9 16 25 0 27 27 Cosmic_Gene C C T C C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 55317 20 3804759 3804759 33 AML relapse snv EP300 nonsense G1269* NM_001429 20-PARCVS EP300 NONSENSE SNP Somatic 11 0.408 SQHIGH 19 22 41 0 31 31 Cosmic_Gene G G T G G TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 2033 22 41560133 41560133 57 AML relapse snv SV2A missense S127I NM_014849 20-PARCZL SV2A MISSENSE SNP Somatic 6 0.200 SQHIGH 16 20 36 0 30 30 Cosmic_Gene C C A C C TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 9900 1 149885013 149885013 51 AML relapse snv PLXNB1 missense D2134G NM_002673 20-PARCZL PLXNB1 MISSENSE SNP Somatic 4 0.156 SQHIGH 5 18 23 0 20 20 Cosmic_Gene T T C T T TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 5364 3 48445900 48445900 15 AML relapse snv GARNL3 missense G733C NM_032293 20-PARCZL GARNL3 MISSENSE SNP Somatic PFAM:PF00780:CNH 8 0.254 SQHIGH 18 26 44 0 46 46 Cosmic_Gene G G T G G TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 84253 9 130145752 130145752 66 AML relapse snv CUBN missense P703S NM_001081 20-PARCZL CUBN MISSENSE SNP Somatic 16 0.736 SQHIGH 19 26 45 0 35 35 Cosmic_Gene G G A G G TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 8029 10 17127599 17127599 57 AML relapse snv SMC3 missense R381Q NM_005445 20-PARCZL SMC3 MISSENSE SNP Somatic 11 0.368 SQHIGH 16 26 42 0 37 37 Cosmic_Gene G G A G G TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 9126 10 112343991 112343991 51 AML relapse snv NR1H3 missense E59K NM_005693 20-PARCZL NR1H3 MISSENSE SNP Somatic 17 0.862 SQHIGH 17 20 37 0 35 35 Cosmic_Gene G G A G G TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 10062 11 47281473 47281473 59 AML relapse snv RNF169 missense Q642K NM_001098638 20-PARCZL RNF169 MISSENSE SNP Somatic 12 0.421 SQHIGH 16 29 45 0 33 33 Cosmic_Gene C C A C C TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 254225 11 74547572 74547572 44 AML relapse snv POLG missense A547T NM_002693 20-PARCZL POLG MISSENSE SNP Somatic 9 0.287 SQHIGH 24 31 55 1 41 42 Cosmic_Gene C C T C C TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 5428 15 89869916 89869916 60 AML relapse snv MYO15A missense A441V NM_016239 20-PARCZL MYO15A MISSENSE SNP Somatic 6 0.200 SQHIGH 14 28 42 0 18 18 Cosmic_Gene C C T C C TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 51168 17 18023436 18023436 25 AML relapse snv SALL3 missense T524M NM_171999 20-PARCZL SALL3 MISSENSE SNP Somatic 3 0.142 SQHIGH 5 13 18 0 17 17 Cosmic_Gene C C T C C TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 27164 18 76753562 76753562 16 AML relapse snv DENND1C splice_region R59_E4splice_region NM_024898 20-PARCZL DENND1C INTRON SNP Somatic 6 0.200 SQHIGH 24 50 74 1 82 83 Cosmic_Gene C C T C C TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 79958 19 6479670 6479670 77 AML relapse snv LILRA4 missense H171Y NM_012276 20-PARCZL LILRA4 MISSENSE SNP Somatic PFAM:PF00047:ig 6 0.200 SQHIGH 24 37 61 0 66 66 Cosmic_Gene G G A G G TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 23547 19 54849351 54849351 89 AML relapse snv MID2 missense T78N NM_012216 20-PARCZL MID2 MISSENSE SNP Somatic 11 0.368 SQHIGH 10 25 35 0 41 41 Cosmic_Gene C C A C C TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 11043 X 107084128 107084128 37 AML diagnosis snv SLC45A1 missense R705W NM_001080397 20-PARCZL SLC45A1 MISSENSE SNP Somatic 12 0.437 SQHIGH 12 10 22 1 23 24 Cosmic_Gene C C T C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 50651 1 8403837 8403837 38 AML diagnosis snv MAST2 missense T1640S NM_015112 20-PARCZL MAST2 MISSENSE SNP Somatic -10 0.049 SQHIGH 9 32 41 0 35 35 Cosmic_Gene A A T A A TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 23139 1 46501259 46501259 26 AML diagnosis snv SV2A missense S127I NM_014849 20-PARCZL SV2A MISSENSE SNP Somatic 6 0.215 SQHIGH 13 19 32 0 30 30 Cosmic_Gene C C A C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 9900 1 149885013 149885013 44 AML diagnosis snv LTBP1 missense C374S NM_206943 20-PARCZL LTBP1 MISSENSE SNP Somatic -10 0.049 SQHIGH 9 37 46 1 49 50 Cosmic_Gene T T A T T TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 4052 2 33359946 33359946 23 AML diagnosis snv WDSUB1 silent C61C NM_001128213 20-PARCZL WDSUB1 SYNONYMOUS SNP Somatic -5 0.072 SQHIGH 4 10 14 0 22 22 A A G A A TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 151525 2 160139398 160139398 18 AML diagnosis snv ASB1 missense H31L NM_001040445 20-PARCZL ASB1 MISSENSE SNP Somatic 1 0.128 SQHIGH 9 49 58 0 40 40 A A T A A TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 51665 2 239342237 239342237 22 AML diagnosis snv ASB1 missense P32Q NM_001040445 20-PARCZL ASB1 MISSENSE SNP Somatic 1 0.128 SQHIGH 9 47 56 0 38 38 C C A C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 51665 2 239342240 239342240 21 AML diagnosis snv ABCC5-AS1 EXON E2_exon NM_005688 20-PARCZL ABCC5 INTRON SNP Somatic -3 0.085 SQHIGH 4 13 17 0 25 25 Cosmic_Gene G G C G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 10057 3 183728312 183728312 17 AML diagnosis snv BTBD9 silent R388R NM_052893 20-PARCZL BTBD9 SYNONYMOUS SNP Somatic PFAM:PF00754:F5_F8_type_C -8 0.057 SQHIGH 8 23 31 2 45 47 T T C T T TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 114781 6 38312860 38312860 21 AML diagnosis snv THEMIS missense T212M NM_001164685 20-PARCZL THEMIS MISSENSE SNP Somatic PFAM:PF12736:CABIT 19 0.954 SQHIGH 17 22 39 0 37 37 Cosmic_Gene G G A G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 387357 6 128150695 128150695 59 AML diagnosis snv PPP1R14C missense R150Q NM_030949 20-PARCZL PPP1R14C MISSENSE SNP Somatic PFAM:PF05361:PP1_inhibitor 16 0.735 SQHIGH 14 22 36 0 47 47 G G A G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 81706 6 150569907 150569907 58 AML diagnosis snv CNKSR3 missense R394T NM_173515 20-PARCZL CNKSR3 MISSENSE SNP Somatic PFAM:PF06663:DUF1170 -3 0.085 SQHIGH 7 38 45 0 41 41 Cosmic_Gene C C G C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 154043 6 154732166 154732166 21 AML diagnosis snv OR1J1 missense F31Y NM_001004451 20-PARCZL OR1J1 MISSENSE SNP Somatic -2 0.094 SQHIGH 8 23 31 1 31 32 Cosmic_Gene A A T A A TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 347168 9 125240114 125240114 19 AML diagnosis snv CUBN missense P703S NM_001081 20-PARCZL CUBN MISSENSE SNP Somatic 17 0.850 SQHIGH 12 24 36 0 35 35 Cosmic_Gene G G A G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 8029 10 17127599 17127599 40 AML diagnosis snv EXOSC1 missense V52E NM_016046 20-PARCZL ZDHHC16|EXOSC1 TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.241 SQHIGH 7 31 38 1 45 46 Cosmic_Gene A A T A A TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 84287|51013 10 99203061 99203061 18 AML diagnosis snv EXOSC1 missense P51R NM_016046 20-PARCZL ZDHHC16|EXOSC1 TSS-UPSTREAM|MISSENSE SNP Somatic 8 0.269 SQHIGH 7 36 43 1 54 55 Cosmic_Gene G G C G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 84287|51013 10 99203064 99203064 19 AML diagnosis snv SMC3 missense R381Q NM_005445 20-PARCZL SMC3 MISSENSE SNP Somatic 10 0.339 SQHIGH 23 33 56 0 37 37 Cosmic_Gene G G A G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 9126 10 112343991 112343991 61 AML diagnosis snv NR1H3 missense E59K NM_005693 20-PARCZL NR1H3 MISSENSE SNP Somatic 14 0.575 SQHIGH 21 19 40 0 35 35 Cosmic_Gene G G A G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 10062 11 47281473 47281473 72 AML diagnosis snv TTC9C silent S156S NM_173810 20-PARCZL TTC9C SYNONYMOUS SNP Somatic -4 0.078 SQHIGH 5 17 22 0 19 19 Cosmic_Gene C C T C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 283237 11 62505806 62505806 15 AML diagnosis snv TCIRG1 silent L125L NM_006019 20-PARCZL TCIRG1 SYNONYMOUS,TSS-UPSTREAM SNP Somatic PFAM:PF01496:V_ATPase_I 0 0.115 SQHIGH 7 17 24 1 21 22 Cosmic_Gene G G C G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 10312 11 67810288 67810288 15 AML diagnosis snv RNF169 missense Q642K NM_001098638 20-PARCZL RNF169 MISSENSE SNP Somatic 17 0.850 SQHIGH 17 21 38 0 33 33 Cosmic_Gene C C A C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 254225 11 74547572 74547572 56 AML diagnosis snv STAT6 splice W39_E2splice NM_003153 20-PARCZL STAT6 DISRUPT,INTRON SNP Somatic 8 0.269 SQHIGH 4 18 22 0 25 25 Cosmic_Gene A A T A A TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 6778 12 57501944 57501944 14 AML diagnosis snv LOXHD1 missense G1722S NM_144612 20-PARCZL LOXHD1 MISSENSE SNP Somatic PFAM:PF01477:PLAT 15 0.664 SQHIGH 18 23 41 0 42 42 C C T C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 125336 18 44098141 44098141 66 AML diagnosis snv PCP2 silent E10E NM_174895 20-PARCZL XAB2|STXBP2|PCP2 TSS-UPSTREAM|TSS-UPSTREAM|SYNONYMOUS SNP Somatic -7 0.062 SQHIGH 5 18 23 1 35 36 Cosmic_Gene T T C T T TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 56949|6813|126006 19 7698314 7698314 15 AML diagnosis snv NOTCH3 missense C959F NM_000435 20-PARCZL NOTCH3 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA -9 0.052 SQHIGH 6 25 31 0 46 46 Cosmic_Gene C C A C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 4854 19 15291890 15291890 25 AML diagnosis snv MYH14 missense S138F NM_001077186 20-PARCZL MYH14 MISSENSE SNP Somatic 5 0.187 SQHIGH 13 41 54 0 41 41 Cosmic_Gene C C T C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 79784 19 50720879 50720879 35 AML diagnosis snv LILRA4 missense H171Y NM_012276 20-PARCZL LILRA4 MISSENSE SNP Somatic PFAM:PF00047:ig 6 0.215 SQHIGH 28 47 75 0 66 66 Cosmic_Gene G G A G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 23547 19 54849351 54849351 89 AML diagnosis snv SON missense Q225L NM_032195 20-PARCZL SON MISSENSE SNP Somatic -9 0.052 SQHIGH 3 31 34 0 61 61 Cosmic_Gene A A T A A TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 6651 21 34922211 34922211 14 AML diagnosis snv SON nonsense S226* NM_032195 20-PARCZL SON NONSENSE SNP Somatic -9 0.052 SQHIGH 3 34 37 0 63 63 Cosmic_Gene C C G C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 6651 21 34922214 34922214 13 AML diagnosis snv IL17REL missense A24V NM_001001694 20-PARCZL IL17REL MISSENSE SNP Somatic 7 0.241 SQHIGH 15 8 23 0 22 22 Cosmic_Gene G G A G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 400935 22 50439549 50439549 58 AML diagnosis snv PLXNB2 missense T1631R NM_012401 20-PARCZL PLXNB2 MISSENSE SNP Somatic PFAM:PF08337:Plexin_cytopl -3 0.085 SQHIGH 7 36 43 0 19 19 Cosmic_Gene G G C G G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 23654 22 50716438 50716438 12 AML diagnosis snv SMC1A splice_region A206_E5splice_region NM_006306 20-PARCZL SMC1A ACCEPTOR SNP Somatic 9 0.302 SQHIGH 26 19 45 0 37 37 Cosmic_Gene C C T C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 8243 X 53440098 53440098 88 AML diagnosis mnv KIF1B missense T777_V778>KK NM_015074 20-PARCZL KIF1B MISSENSE Sub Somatic -3 0.473 SQHIGH 9 38 47 1 43 44 Cosmic_Gene CAGT CAGT AGAA CAGT CAGT TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 23095 1 10384051 10384054 20 AML diagnosis mnv FLNB missense Q883_F884>PL NM_001164317 20-PARCZL FLNB MISSENSE Sub Somatic PFAM:PF00630:Filamin -4 0.426 SQHIGH 16 43 59 0 63 63 Cosmic_Gene AGT AGT CTC AGT AGT TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 2317 3 58097948 58097950 56 AML diagnosis mnv PTCD2 missense M372_V373>IF NM_024754 20-PARCZL PTCD2 MISSENSE Sub Somatic -5 0.395 SQHIGH 9 40 49 1 57 58 GG GG CT GG GG TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 79810 5 71654203 71654204 24 AML diagnosis mnv KIAA1024L missense A28G NM_001257308 20-PARCZL Sub Somatic -3 0.473 SQHIGH 17 44 61 0 42 42 CC CC GA CC CC TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 5 129083966 129083967 43 AML diagnosis mnv OR11A1 missense L115A NM_013937 20-PARCZL OR11A1 MISSENSE Sub Somatic PFAM:PF00001:7tm_1 -6 0.366 SQHIGH 12 39 51 0 36 36 Cosmic_Gene CAG CAG GGC CAG CAG TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 26531 6 29395074 29395076 30 AML diagnosis mnv OPRM1 missense V395_A396>VS NM_001145284 20-PARCZL OPRM1 INTRON,MISSENSE Sub Somatic -7 0.341 SQHIGH 14 34 48 0 26 26 Cosmic_Gene TGCT TGCT GTCA TGCT TGCT TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 4988 6 154428903 154428906 30 AML diagnosis mnv FAM102A nonsense C56_V57>*R NM_001035254 20-PARCZL FAM102A TSS-UPSTREAM,NONSENSE Sub Somatic PFAM:PF10358:Eeig1 0 0.636 SQHIGH 20 55 75 0 69 69 Cosmic_Gene ACA ACA CGT ACA ACA TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 399665 9 130716181 130716183 63 AML diagnosis mnv PCDH15 missense T605_V606>RM NM_001142763 20-PARCZL PCDH15 INTRON,MISSENSE Sub Somatic -4 0.426 SQHIGH 15 36 51 0 43 43 Cosmic_Gene CAG CAG TCC CAG CAG TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 65217 10 55892751 55892753 45 AML diagnosis mnv MLH3 missense T1132_V1133>RF NM_001040108 20-PARCZL MLH3 MISSENSE Sub Somatic -10 0.289 SQHIGH 11 47 58 3 66 69 Cosmic_Gene CAG CAG ATC CAG CAG TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 27030 14 75508386 75508388 20 AML diagnosis mnv BLM missense A679_L680>AI NM_000057 20-PARCZL BLM MISSENSE Sub Somatic -4 0.426 SQHIGH 13 44 57 0 69 69 Cosmic_Gene ACTG ACTG GATC ACTG ACTG TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 641 15 91306350 91306353 48 AML diagnosis mnv NAPSA missense R352_L353>RF NM_004851 20-PARCZL NAPSA MISSENSE Sub Somatic PFAM:PF00026:Asp PFAM:PF08284:RVP_2 -9 0.306 SQHIGH 9 48 57 0 39 39 GG GG AA GG GG TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 9476 19 50862016 50862017 22 AML relapse snv RAD54L2 silent S1213S NM_015106 20-PARDDY RAD54L2 SYNONYMOUS SNP Somatic -10 0.043 SQHIGH 5 22 27 0 19 19 Cosmic_Gene T T C T T TARGET-20-PARDDY-04A-03D TARGET-20-PARDDY-14A-01D 23132 3 51696671 51696671 12 AML relapse snv C10orf90 missense G160V NM_001004298 20-PARDDY C10orf90 MISSENSE SNP Somatic -4 0.070 SQHIGH 4 14 18 0 20 20 Cosmic_Gene C C A C C TARGET-20-PARDDY-04A-03D TARGET-20-PARDDY-14A-01D 118611 10 128193290 128193290 14 AML diagnosis snv ROCK2 missense R852C NM_004850 20-PARDDY ROCK2 MISSENSE SNP Somatic -8 0.054 SQHIGH 5 15 20 0 21 21 Cosmic_Gene G G A G G TARGET-20-PARDDY-09A-03D TARGET-20-PARDDY-14A-01D 9475 2 11342243 11342243 17 AML diagnosis snv ADCY3 missense A984V NM_004036 20-PARDDY ADCY3 MISSENSE SNP Somatic 13 0.486 SQHIGH 18 27 45 0 57 57 Cosmic_Gene G G A G G TARGET-20-PARDDY-09A-03D TARGET-20-PARDDY-14A-01D 109 2 25045432 25045432 74 AML diagnosis snv LCORL missense S119T NM_001166139 20-PARDDY LCORL MISSENSE SNP Somatic 2 0.136 SQHIGH 5 18 23 0 23 23 A A T A A TARGET-20-PARDDY-09A-03D TARGET-20-PARDDY-14A-01D 254251 4 17963601 17963601 16 AML diagnosis snv P2RY2 missense T365M NM_176072 20-PARDDY P2RY2 MISSENSE SNP dbsnp.134:rs138929283 Somatic 14 0.561 SQHIGH 14 16 30 0 23 23 Cosmic_Gene C C T C C TARGET-20-PARDDY-09A-03D TARGET-20-PARDDY-14A-01D 5029 11 72946298 72946298 42 AML diagnosis snv UBE2Z missense R164W NM_023079 20-PARDDY UBE2Z MISSENSE SNP Somatic 1 0.123 SQHIGH 12 41 53 0 47 47 C C T C C TARGET-20-PARDDY-09A-03D TARGET-20-PARDDY-14A-01D 65264 17 46990295 46990295 36 AML diagnosis snv JAK3 missense A573V NM_000215 20-PARDDY JAK3 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr -10 0.047 SQHIGH 6 31 37 0 46 46 Cosmic_Gene G G A G G TARGET-20-PARDDY-09A-03D TARGET-20-PARDDY-14A-01D 3718 19 17948006 17948006 22 AML diagnosis snv CD207 missense V42I NM_015717 20-PARDEV CD207 MISSENSE SNP Somatic -7 0.062 SQHIGH 5 38 43 0 63 63 Cosmic_Gene C C T C C TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 50489 2 71062688 71062688 20 AML diagnosis snv LRRTM1 missense D355H NM_178839 20-PARDEV LRRTM1|CTNNA2 MISSENSE|INTRON SNP Somatic 7 0.226 SQHIGH 8 16 24 0 24 24 Cosmic_Gene C C G C C TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 347730|1496 2 80529882 80529882 27 AML diagnosis snv HERC5 silent P339P NM_016323 20-PARDEV HERC5 SYNONYMOUS SNP Somatic PFAM:PF00415:RCC1 -1 0.104 SQHIGH 10 31 41 0 41 41 Cosmic_Gene G G A G G TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 51191 4 89388315 89388315 33 AML diagnosis snv OR51M1 missense R247C NM_001004756 20-PARDEV OR51M1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 0 0.113 SQHIGH 12 23 35 0 33 33 C C T C C TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 390059 11 5411367 5411367 39 AML diagnosis snv DDX6 missense G397C NM_004397 20-PARDEV DDX6 MISSENSE SNP Somatic 3 0.151 SQHIGH 8 22 30 0 20 20 Cosmic_Gene C C A C C TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 1656 11 118626198 118626198 20 AML diagnosis snv NTM silent S143S NM_016522 20-PARDEV NTM SYNONYMOUS SNP Somatic PFAM:PF00047:ig 9 0.281 SQHIGH 11 37 48 1 34 35 Cosmic_Gene A A T A A TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 50863 11 132081944 132081944 21 AML diagnosis snv PTPN11 missense E76V NM_002834 20-PARDEV PTPN11 MISSENSE SNP dbsnp.133:rs121918465 Somatic 9 0.281 SQHIGH 8 27 35 0 38 38 COSMIC:mut:13025 Cosmic_Gene A A T A A TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 5781 12 112888211 112888211 28 AML diagnosis snv PRKCH silent E555E NM_006255 20-PARDEV PRKCH SYNONYMOUS SNP Somatic 5 0.183 SQHIGH 8 19 27 0 43 43 Cosmic_Gene G G A G G TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 5583 14 61997217 61997217 36 AML diagnosis snv CACNA1H missense T1061A NM_021098 20-PARDEV CACNA1H MISSENSE SNP Somatic -1 0.104 SQHIGH 6 28 34 0 35 35 Cosmic_Gene A A G A A TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 8912 16 1258039 1258039 20 AML diagnosis snv MT1M missense T16A NM_176870 20-PARDEV MT1JP|MT1M TSS-UPSTREAM|MISSENSE SNP Somatic -2 0.093 SQHIGH 7 21 28 0 41 41 Cosmic_Gene A A G A A TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 4498|4499 16 56667269 56667269 30 AML diagnosis snv CDH2 splice E340_E7splice NM_001792 20-PARDEV CDH2 DISRUPT SNP Somatic 13 0.458 SQHIGH 10 24 34 0 37 37 Cosmic_Gene C C G C C TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 1000 18 25582960 25582960 35 AML diagnosis snv PTPRA missense D237N NM_002836 20-PARDEV PTPRA MISSENSE SNP Somatic 1 0.126 SQHIGH 10 50 60 0 48 48 Cosmic_Gene G G A G G TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 5786 20 2969091 2969091 27 AML diagnosis snv SPATA2 silent G467G NM_006038 20-PARDEV SPATA2 SYNONYMOUS SNP Somatic 3 0.151 SQHIGH 8 21 29 0 24 24 Cosmic_Gene G G A G G TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 9825 20 48522318 48522318 23 AML relapse snv UBR4 missense R2272C NM_020765 20-PARDMG UBR4 MISSENSE SNP Somatic -2 0.091 SQHIGH 4 22 26 0 43 43 Cosmic_Gene G G A G G TARGET-20-PARDMG-04A-01D TARGET-20-PARDMG-14B-01D 23352 1 19479813 19479813 18 AML relapse snv OR6Y1 silent L44L NM_001005189 20-PARDMG OR6Y1 SYNONYMOUS SNP Somatic -1 0.100 SQHIGH 4 7 11 0 22 22 Cosmic_Gene C C T C C TARGET-20-PARDMG-04A-01D TARGET-20-PARDMG-14B-01D 391112 1 158517764 158517764 21 AML relapse snv CASP10 missense L71Q NM_032977 20-PARDMG CASP10 MISSENSE SNP Somatic PFAM:PF01335:DED -7 0.060 SQHIGH 4 18 22 0 30 30 Cosmic_Gene T T A T T TARGET-20-PARDMG-04A-01D TARGET-20-PARDMG-14B-01D 843 2 202050712 202050712 16 AML relapse snv OR4S1 missense A81V NM_001004725 20-PARDMG OR4S1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -1 0.100 SQHIGH 6 33 39 0 77 77 Cosmic_Gene C C T C C TARGET-20-PARDMG-04A-01D TARGET-20-PARDMG-14B-01D 256148 11 48328016 48328016 30 AML relapse snv PIEZO2 missense T262M NM_022068 20-PARDMG PIEZO2 MISSENSE SNP Somatic -7 0.060 SQHIGH 4 9 13 0 16 16 G G A G G TARGET-20-PARDMG-04A-01D TARGET-20-PARDMG-14B-01D 63895 18 10855483 10855483 15 AML relapse snv BCL2 silent A38A NM_000633 20-PARDMG BCL2 SYNONYMOUS SNP Somatic -5 0.070 SQHIGH 6 12 18 1 24 25 Cosmic_Gene C C G C C TARGET-20-PARDMG-04A-01D TARGET-20-PARDMG-14B-01D 596 18 60985786 60985786 18 AML relapse snv ABCA7 missense P1357A NM_019112 20-PARDMG ABCA7 MISSENSE SNP Somatic -7 0.060 SQHIGH 4 8 12 0 15 15 Cosmic_Gene C C G C C TARGET-20-PARDMG-04A-01D TARGET-20-PARDMG-14B-01D 10347 19 1055214 1055214 15 AML diagnosis snv TNFRSF18 missense P176T NM_148901 20-PARDMG TNFRSF18 UTR3,MISSENSE SNP Somatic 8 0.253 SQHIGH 17 23 40 0 28 28 G G T G G TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 8784 1 1139213 1139213 47 AML diagnosis snv UBR4 missense R2272C NM_020765 20-PARDMG UBR4 MISSENSE SNP Somatic 11 0.365 SQHIGH 17 22 39 0 43 43 Cosmic_Gene G G A G G TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 23352 1 19479813 19479813 65 AML diagnosis snv MYOM3 missense G237S NM_152372 20-PARDMG MYOM3 MISSENSE SNP Somatic 11 0.365 SQHIGH 21 22 43 1 46 47 Cosmic_Gene C C T C C TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 127294 1 24424449 24424449 70 AML diagnosis snv NRAS missense Q61K NM_002524 20-PARDMG NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 7 0.226 SQHIGH 8 20 28 0 21 21 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 4893 1 115256530 115256530 22 AML diagnosis snv ZFHX4 missense R2926W NM_024721 20-PARDMG ZFHX4 MISSENSE SNP Somatic 1 0.118 SQHIGH 9 37 46 0 50 50 Cosmic_Gene C C T C C TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 79776 8 77767933 77767933 31 AML diagnosis snv OR4S1 missense A81V NM_001004725 20-PARDMG OR4S1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 12 0.419 SQHIGH 27 18 45 0 77 77 Cosmic_Gene C C T C C TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 256148 11 48328016 48328016 147 AML diagnosis snv ELMOD1 silent V119V NM_018712 20-PARDMG ELMOD1 SYNONYMOUS SNP Somatic PFAM:PF04727:ELMO_CED12 -10 0.044 SQHIGH 20 39 59 0 31 31 G G A G G TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 55531 11 107506428 107506428 43 AML diagnosis snv MTUS2-AS1 EXON E7_exon NM_001033602 20-PARDMG MTUS2 INTRON SNP Somatic 6 0.201 SQHIGH 21 36 57 0 56 56 G G A G G TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 23281 13 30051011 30051011 72 AML diagnosis snv TRIP10 missense E236G NM_004240 20-PARDMG TRIP10 MISSENSE SNP Somatic -10 0.044 SQHIGH 5 22 27 0 39 39 Cosmic_Gene A A G A A TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 9322 19 6744629 6744629 20 AML diagnosis snv COLGALT1 missense D258H NM_024656 20-PARDMG COLGALT1 MISSENSE SNP Somatic -7 0.057 SQHIGH 8 44 52 0 71 71 G G C G G TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 79709 19 17679465 17679465 31 AML diagnosis snv CST4 missense Q45E NM_001899 20-PARDMG CST4 MISSENSE SNP Somatic 13 0.480 SQHIGH 18 28 46 0 45 45 Cosmic_Gene G G C G G TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 1472 20 23669474 23669474 62 AML diagnosis snv DHRS3 missense I50S NM_004753 20-PARENB DHRS3 MISSENSE SNP Somatic -6 0.063 SQHIGH 7 14 21 0 16 16 Cosmic_Gene A A C A A TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 9249 1 12677205 12677205 19 AML diagnosis snv HRNR missense Q709K NM_001009931 20-PARENB HRNR MISSENSE SNP Somatic 14 0.483 SQHIGH 26 30 56 0 51 51 Cosmic_Gene G G T G G TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 388697 1 152191980 152191980 89 AML diagnosis snv MFSD2B missense R342C NM_001080473 20-PARENB MFSD2B MISSENSE SNP Somatic 10 0.280 SQHIGH 16 20 36 0 38 38 Cosmic_Gene C C T C C TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 388931 2 24245737 24245737 60 AML diagnosis snv GCFC2 missense A734T NM_003203 20-PARENB GCFC2 MISSENSE SNP Somatic 5 0.162 SQHIGH 11 13 24 1 22 23 Cosmic_Gene C C T C C TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 6936 2 75893083 75893083 29 AML diagnosis snv USP4 missense R426W NM_003363 20-PARENB USP4 MISSENSE SNP Somatic 13 0.411 SQHIGH 15 20 35 0 32 32 Cosmic_Gene G G A G G TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 7375 3 49339828 49339828 50 AML diagnosis snv CHRNA9 silent A149A NM_017581 20-PARENB CHRNA9 SYNONYMOUS SNP Somatic PFAM:PF02931:Neur_chan_LBD 12 0.358 SQHIGH 23 27 50 0 48 48 Cosmic_Gene C C T C C TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 55584 4 40350980 40350980 81 AML diagnosis snv GRIA2 silent S613S NM_000826 20-PARENB GRIA2 SYNONYMOUS SNP Somatic PFAM:PF00060:Lig_chan 15 0.558 SQHIGH 26 27 53 0 36 36 Cosmic_Gene G G A G G TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 2891 4 158257894 158257894 73 AML diagnosis snv GEMIN5 missense L289F NM_015465 20-PARENB GEMIN5 MISSENSE SNP Somatic PFAM:PF00400:WD40 16 0.642 SQHIGH 13 25 38 0 35 35 Cosmic_Gene G G A G G TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 25929 5 154308136 154308136 42 AML diagnosis snv LOC101928445 EXON E13_exon NM_025158 20-PARENB RUFY1 INTRON SNP Somatic -10 0.047 SQHIGH 3 18 21 0 36 36 Cosmic_Gene C C T C C TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 80230 5 179025301 179025301 13 AML diagnosis snv FBXO10 missense R717Q NM_012166 20-PARENB FBXO10 MISSENSE SNP Somatic 18 0.842 SQHIGH 17 16 33 1 40 41 Cosmic_Gene C C T C C TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 26267 9 37521616 37521616 62 AML diagnosis snv TRIM32 silent L119L NM_012210 20-PARENB ASTN2|TRIM32 INTRON|SYNONYMOUS SNP Somatic PFAM:PF00643:zf-B_box -9 0.050 SQHIGH 4 27 31 0 44 44 Cosmic_Gene A A G A A TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 23245|22954 9 119460378 119460378 16 AML diagnosis snv C10orf67 missense D132E NM_153714 20-PARENB C10orf67 MISSENSE SNP Somatic 10 0.280 SQHIGH 11 17 28 0 30 30 G G T G G TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 256815 10 23611401 23611401 40 AML diagnosis snv NEK3 silent N116N NM_002498 20-PARENB NEK3 SYNONYMOUS,UTR SNP Somatic -9 0.050 SQHIGH 7 20 27 0 31 31 Cosmic_Gene A A G A A TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 4752 13 52726789 52726789 25 AML diagnosis snv LRRN4 missense S624L NM_152611 20-PARENB LRRN4 MISSENSE SNP Somatic 17 0.778 SQHIGH 24 25 49 0 41 41 Cosmic_Gene G G A G G TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 164312 20 6022020 6022020 78 AML diagnosis snv GSPT2 missense L491P NM_018094 20-PARENB GSPT2 MISSENSE SNP Somatic -7 0.058 SQHIGH 5 21 26 1 37 38 Cosmic_Gene T T C T T TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 23708 X 51488194 51488194 14 AML diagnosis snv SMARCA1 splice A271_E7splice NM_003069 20-PARENB SMARCA1 DISRUPT SNP Somatic -25 0.010 1 5 6 0 15 15 Cosmic_Gene T T A T T TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 6594 X 128642075 128642075 5 AML diagnosis complex SP3 frameshift S403fs NM_003111 20-PARENB SP3 NONSENSE Sub Somatic -5 0.356 SQHIGH 4 15 19 0 28 28 Cosmic_Gene AG AG ACT AG AG TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 6670 2 174820031 174820032 17 AML diagnosis complex LRFN1 frameshift Y710_G711fs NM_020862 20-PARENB LRFN1 FRAMESHIFT Sub Somatic -5 0.356 SQHIGH 6 11 17 1 30 31 Cosmic_Gene CCCG CCCG CAA CCCG CCCG TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 57622 19 39798456 39798459 23 AML relapse snv GNB1 missense I80S NM_002074 20-PARFAL GNB1 MISSENSE SNP Somatic -9 0.051 SQHIGH 4 24 28 0 42 42 A A C A A TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 2782 1 1737942 1737942 17 AML relapse snv NRAS missense G12D NM_002524 20-PARFAL NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -21 0.014 4 39 43 0 49 49 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 4893 1 115258747 115258747 14 AML relapse snv MKI67 missense T2726S NM_002417 20-PARFAL MKI67 MISSENSE SNP Somatic PFAM:PF08065:K167R -3 0.087 SQHIGH 3 11 14 0 26 26 Cosmic_Gene T T A T T TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 4288 10 129901928 129901928 14 AML relapse snv GABRA5 missense R154Q NM_000810 20-PARFAL GABRA5 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD -4 0.079 SQHIGH 6 22 28 0 26 26 Cosmic_Gene G G A G G TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 2558 15 27128668 27128668 18 AML relapse snv TP53 missense R175H NM_000546 20-PARFAL TP53 MISSENSE SNP dbsnp.125:rs28934578 Somatic 1 0.135 SQHIGH 10 32 42 1 60 61 COSMIC:mut:99022,COSMIC:mut:99914,COSMIC:mut:99023,COSMIC:mut:10648,COSMIC:mut:99024 Cosmic_Gene C C T C C TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 7157 17 7578406 7578406 33 AML relapse snv PIK3R5 missense G390S NM_001142633 20-PARFAL PIK3R5 MISSENSE SNP Somatic PFAM:PF10486:PI3K_1B_p101 5 0.210 SQHIGH 14 42 56 0 41 41 Cosmic_Gene C C T C C TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 23533 17 8791936 8791936 37 AML relapse snv KCNH4 silent Q690Q NM_012285 20-PARFAL KCNH4 SYNONYMOUS SNP Somatic -2 0.097 SQHIGH 11 55 66 0 51 51 Cosmic_Gene C C T C C TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 23415 17 40317482 40317482 29 AML diagnosis snv NRAS missense G12D NM_002524 20-PARFAL NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 7 0.262 SQHIGH 13 36 49 0 49 49 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 4893 1 115258747 115258747 43 AML diagnosis snv QARS missense Y57C NM_005051 20-PARFAL QARS MISSENSE SNP Somatic PFAM:PF04558:tRNA_synt_1c_R1 -10 0.044 SQHIGH 5 24 29 0 39 39 Cosmic_Gene T T C T T TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 5859 3 49141852 49141852 19 AML diagnosis snv HMCES splice E1_splice NM_001006109 20-PARFAL C3orf37 DISRUPT SNP Somatic -2 0.092 SQHIGH 9 39 48 0 84 84 Cosmic_Gene G G C G G TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 56941 3 128998552 128998552 42 AML diagnosis snv SDK1 silent V1696V NM_152744 20-PARFAL SDK1 SYNONYMOUS,UTR SNP dbsnp.134:rs145808805 Somatic 6 0.232 SQHIGH 15 37 52 0 47 47 Cosmic_Gene C C T C C TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 221935 7 4218208 4218208 47 AML diagnosis snv EZH2 missense R685H NM_001203247 20-PARFAL EZH2 MISSENSE SNP Somatic PFAM:PF00856:SET 10 0.377 SQHIGH 12 37 49 0 52 52 COSMIC:mut:52980 Cosmic_Gene C C T C C TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 2146 7 148506443 148506443 41 AML diagnosis snv EZH2 nonsense R34* NM_001203247 20-PARFAL EZH2 NONSENSE SNP Somatic -2 0.092 SQHIGH 5 17 22 0 39 39 Cosmic_Gene G G A G G TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 2146 7 148544291 148544291 24 AML diagnosis snv RALGPS1 splice_region G399_E13splice_region NM_014636 20-PARFAL RALGPS1 INTRON SNP Somatic -2 0.092 SQHIGH 8 34 42 0 62 62 Cosmic_Gene G G A G G TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 9649 9 129958917 129958917 33 AML diagnosis snv AP2A2 missense F74I NM_012305 20-PARFAL AP2A2 MISSENSE SNP Somatic PFAM:PF01602:Adaptin_N -7 0.057 SQHIGH 4 6 10 1 24 25 T T A T T TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 161 11 970252 970252 18 AML diagnosis snv OSBPL5 splice_region K202_E6splice_region NM_020896 20-PARFAL OSBPL5 INTRON SNP Somatic 9 0.332 SQHIGH 21 25 46 1 42 43 Cosmic_Gene G G A G G TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 114879 11 3141644 3141644 61 AML diagnosis snv NPAP1 silent A134A NM_018958 20-PARFAL NPAP1 SYNONYMOUS SNP Somatic 3 0.161 SQHIGH 12 27 39 0 48 48 Cosmic_Gene G G A G G TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 23742 15 24921416 24921416 47 AML diagnosis snv GABRA5 missense R154Q NM_000810 20-PARFAL GABRA5 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 1 0.129 SQHIGH 7 13 20 0 26 26 Cosmic_Gene G G A G G TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 2558 15 27128668 27128668 28 AML diagnosis snv RASGRF1 missense K158Q NM_002891 20-PARFAL RASGRF1 MISSENSE SNP Somatic 2 0.144 SQHIGH 5 29 34 0 60 60 Cosmic_Gene T T G T T TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 5923 15 79350735 79350735 23 AML diagnosis snv PDP2 missense E392D NM_020786 20-PARFAL PDP2 MISSENSE SNP Somatic -8 0.052 SQHIGH 4 28 32 0 43 43 Cosmic_Gene G G C G G TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 57546 16 66919363 66919363 15 AML diagnosis snv RASAL1 missense Q641E NM_004658 20-PARFGK RASAL1 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 -6 0.071 SQHIGH 3 15 18 0 37 37 Cosmic_Gene G G C G G TARGET-20-PARFGK-09A-03D TARGET-20-PARFGK-14A-01D 8437 12 113542010 113542010 15 AML diagnosis snv CHP2 missense V175M NM_022097 20-PARFGK CHP2 MISSENSE SNP dbsnp.134:rs138042112 Somatic 15 0.637 SQHIGH 37 40 77 0 60 60 Cosmic_Gene G G A G G TARGET-20-PARFGK-09A-03D TARGET-20-PARFGK-14A-01D 63928 16 23768630 23768630 115 AML diagnosis snv KRTAP4-1 silent T58T NM_033060 20-PARFGK KRTAP4-1 SYNONYMOUS SNP Somatic 10 0.327 SQHIGH 4 17 21 1 39 40 A A G A A TARGET-20-PARFGK-09A-03D TARGET-20-PARFGK-14A-01D 85285 17 39340933 39340933 14 AML diagnosis snv NAPSA splice_region R264_E7splice_region NM_004851 20-PARFGK NAPSA ACCEPTOR SNP Somatic -2 0.097 SQHIGH 5 35 40 0 56 56 A A G A A TARGET-20-PARFGK-09A-03D TARGET-20-PARFGK-14A-01D 9476 19 50862914 50862914 20 AML diagnosis snv RTEL1 missense K1106M NM_016434 20-PARFGK RTEL1|TNFRSF6B|RTEL1-TNFRSF6B MISSENSE|TSS-UPSTREAM|UTR SNP Somatic 2 0.141 SQHIGH 6 22 28 0 24 24 Cosmic_Gene A A T A A TARGET-20-PARFGK-09A-03D TARGET-20-PARFGK-14A-01D 51750|8771|100533107 20 62326301 62326301 17 AML diagnosis snv UBE2J2 missense L232P NM_194315 20-PARFIW UBE2J2 MISSENSE SNP Somatic -10 0.044 SQHIGH 8 15 23 0 21 21 A A G A A TARGET-20-PARFIW-03A-01D TARGET-20-PARFIW-14A-02D 118424 1 1190716 1190716 26 AML diagnosis snv SLC41A3 missense L478P NM_001008485 20-PARFIW SLC41A3 UTR3,MISSENSE SNP Somatic -10 0.044 SQHIGH 10 41 51 0 50 50 A A G A A TARGET-20-PARFIW-03A-01D TARGET-20-PARFIW-14A-02D 54946 3 125725341 125725341 32 AML diagnosis snv MCM2 missense Q472E NM_004526 20-PARFIW MCM2 MISSENSE SNP Somatic PFAM:PF00485:PRK -5 0.065 SQHIGH 6 19 25 0 34 34 Cosmic_Gene C C G C C TARGET-20-PARFIW-03A-01D TARGET-20-PARFIW-14A-02D 4171 3 127327852 127327852 24 AML diagnosis snv LETM2 missense S382P NM_144652 20-PARFIW LETM2 MISSENSE SNP Somatic -9 0.048 SQHIGH 7 29 36 1 35 36 T T C T T TARGET-20-PARFIW-03A-01D TARGET-20-PARFIW-14A-02D 137994 8 38265745 38265745 16 AML diagnosis snv SIN3B missense E493G NM_015260 20-PARFIW SIN3B MISSENSE SNP Somatic PFAM:PF08295:HDAC_interact -7 0.056 SQHIGH 4 15 19 0 24 24 Cosmic_Gene A A G A A TARGET-20-PARFIW-03A-01D TARGET-20-PARFIW-14A-02D 23309 19 16974606 16974606 15 AML diagnosis snv CMPK2 missense V89A NM_207315 20-PARFRN CMPK2 MISSENSE SNP Somatic -10 0.047 SQHIGH 4 6 10 0 13 13 A A G A A TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 129607 2 7005562 7005562 16 AML diagnosis snv HDLBP silent L500L NM_005336 20-PARFRN HDLBP SYNONYMOUS SNP Somatic 9 0.266 SQHIGH 6 12 18 0 24 24 Cosmic_Gene A A G A A TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 3069 2 242189268 242189268 25 AML diagnosis snv ENTPD3-AS1 EXON E3_exon NM_001248 20-PARFRN ENTPD3-AS1|ENTPD3 UTR|INTRON SNP Somatic 3 0.140 SQHIGH 8 27 35 0 48 48 Cosmic_Gene G G A G G TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 285266|956 3 40433961 40433961 32 AML diagnosis snv PNPLA7 missense E1318K NM_001098537 20-PARFRN NELF|PNPLA7 TSS-UPSTREAM|MISSENSE SNP Somatic 2 0.129 SQHIGH 17 36 53 0 43 43 Cosmic_Gene C C T C C TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 26012|375775 9 140354922 140354922 50 AML diagnosis snv FLT3 missense D835H NM_004119 20-PARFRN FLT3 MISSENSE SNP dbsnp.133:rs121913488 Somatic PFAM:PF03109:ABC1 -5 0.069 SQHIGH 8 49 57 0 63 63 COSMIC:mut:785 Cosmic_Gene C C G C C TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 2322 13 28592642 28592642 27 AML diagnosis snv CDK12 missense P1262S NM_016507 20-PARFRN CDK12 ACCEPTOR,MISSENSE SNP Somatic 6 0.191 SQHIGH 16 28 44 0 27 27 Cosmic_Gene C C T C C TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 51755 17 37686880 37686880 39 AML diagnosis snv IL3RA missense F349V NM_002183 20-PARFRN IL3RA MISSENSE SNP Somatic 12 0.385 SQHIGH 17 29 46 0 51 51 Cosmic_Gene T T G T T TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 3563 X 1499980 1499980 63 AML diagnosis snv PPP2CA missense R206H NM_002715 20-PARFXF PPP2CA MISSENSE SNP Somatic 16 0.658 SQHIGH 20 21 41 1 40 41 Cosmic_Gene C C T C C TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 5515 5 133536147 133536147 62 AML diagnosis snv PCDHGA8 silent R715R NM_032088 20-PARFXF PCDHGA8|PCDHGA3|PCDHGB3|PCDHGB5|PCDHGA4|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 SYNONYMOUS|INTRON|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 10 0.305 SQHIGH 8 17 25 0 28 28 Cosmic_Gene G G A G G TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 9708|56112|56102|56101|56111|56104|56108|8641|56113|56110|56114|56109|56103 5 140774525 140774525 29 AML diagnosis snv MDC1 missense K1413E NM_014641 20-PARFXF MDC1 MISSENSE SNP Somatic -9 0.050 SQHIGH 7 22 29 0 30 30 Cosmic_Gene T T C T T TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 9656 6 30672723 30672723 23 AML diagnosis snv ZBTB24 missense H670D NM_014797 20-PARFXF ZBTB24 MISSENSE SNP Somatic -7 0.059 SQHIGH 4 31 35 0 38 38 Cosmic_Gene G G C G G TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 9841 6 109787140 109787140 13 AML diagnosis snv DOCK5 missense S1420L NM_024940 20-PARFXF DOCK5 MISSENSE SNP Somatic 18 0.845 SQHIGH 12 16 28 0 30 30 Cosmic_Gene C C T C C TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 80005 8 25246734 25246734 45 AML diagnosis snv TDRD7 silent F927F NM_014290 20-PARFXF TDRD7 SYNONYMOUS SNP Somatic PFAM:PF00567:TUDOR 9 0.270 SQHIGH 10 13 23 0 18 18 Cosmic_Gene C C T C C TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 23424 9 100245499 100245499 30 AML diagnosis snv COL13A1 missense R107H NM_001130103 20-PARFXF COL13A1 MISSENSE SNP Somatic 16 0.658 SQHIGH 23 20 43 0 38 38 Cosmic_Gene G G A G G TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 1305 10 71582150 71582150 80 AML diagnosis snv OR5J2 missense F94I NM_001005492 20-PARFXF OR5J2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 14 0.511 SQHIGH 22 26 48 0 53 53 Cosmic_Gene T T A T T TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 282775 11 55944373 55944373 85 AML diagnosis snv ITGBL1 missense E416V NM_004791 20-PARFXF ITGBL1 MISSENSE SNP Somatic 2 0.134 SQHIGH 5 26 31 0 23 23 Cosmic_Gene A A T A A TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 9358 13 102359220 102359220 13 AML diagnosis snv AKAP6 missense A2186S NM_004274 20-PARFXF AKAP6 MISSENSE SNP Somatic 13 0.440 SQHIGH 19 12 31 1 31 32 Cosmic_Gene G G T G G TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 9472 14 33293575 33293575 65 AML diagnosis snv TYRO3 missense R490C NM_006293 20-PARFXF TYRO3 MISSENSE SNP Somatic 5 0.178 SQHIGH 18 10 28 0 18 18 Cosmic_Gene C C T C C TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 7301 15 41862523 41862523 53 AML diagnosis snv FASN missense P2226L NM_004104 20-PARFXF FASN MISSENSE SNP Somatic 1 0.121 SQHIGH 5 6 11 1 22 23 Cosmic_Gene G G A G G TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 2194 17 80038717 80038717 21 AML diagnosis snv LAMA5 silent S3598S NM_005560 20-PARFXF LAMA5 SYNONYMOUS SNP Somatic 12 0.386 SQHIGH 12 14 26 0 31 31 Cosmic_Gene T T C T T TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 3911 20 60885078 60885078 49 AML diagnosis snv USP9X splice_region G108_E4splice_region NM_001039590 20-PARFXF USP9X DONOR SNP Somatic -9 0.050 SQHIGH 5 3 8 0 9 9 Cosmic_Gene G T G TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 8239 X 40990794 40990794 20 AML diagnosis snv LPHN2 missense S523P NM_012302 20-PARGDB LPHN2 MISSENSE SNP Somatic PFAM:PF02793:HRM -9 0.058 SQHIGH 3 16 19 0 31 31 Cosmic_Gene T T C T T TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 23266 1 82416776 82416776 13 AML diagnosis snv NRAS missense G13D NM_002524 20-PARGDB NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 3 0.173 SQHIGH 8 26 34 1 37 38 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 4893 1 115258744 115258744 21 AML diagnosis snv LAMC1 missense V839A NM_002293 20-PARGDB LAMC1 MISSENSE SNP Somatic 5 0.209 SQHIGH 8 15 23 1 35 36 Cosmic_Gene T T C T T TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 3915 1 183093880 183093880 28 AML diagnosis snv ARL14 missense D135E NM_025047 20-PARGDB ARL14 MISSENSE SNP Somatic 3 0.173 SQHIGH 4 19 23 0 28 28 C C G C C TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 80117 3 160395539 160395539 15 AML diagnosis snv NLN missense I100M NM_020726 20-PARGDB NLN MISSENSE SNP Somatic -33 0.004 4 18 22 0 26 26 Cosmic_Gene A A G A A TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 57486 5 65054652 65054652 14 AML diagnosis snv GPER1 silent S372S NM_001505 20-PARGDB C7orf50|GPER INTRON|SYNONYMOUS SNP Somatic -6 0.075 SQHIGH 4 10 14 0 15 15 Cosmic_Gene C C T C C TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 84310|2852 7 1132480 1132480 14 AML diagnosis snv RAPGEF5 missense G4R NM_012294 20-PARGDB RAPGEF5 MISSENSE SNP Somatic PFAM:PF00610:DEP 10 0.351 SQHIGH 9 11 20 0 19 19 Cosmic_Gene C C T C C TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 9771 7 22349630 22349630 31 AML diagnosis snv ERP44 missense R59P NM_015051 20-PARGDB ERP44 MISSENSE SNP Somatic 4 0.191 SQHIGH 18 11 29 1 33 34 C C G C C TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 23071 9 102814809 102814809 67 AML diagnosis snv OR5B21 missense S72P NM_001005218 20-PARGDB OR5B21 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -3 0.097 SQHIGH 7 33 40 0 33 33 Cosmic_Gene A A G A A TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 219968 11 58275365 58275365 19 AML diagnosis snv ASXL3 missense Q1908K NM_030632 20-PARGDB ASXL3 MISSENSE SNP Somatic 7 0.254 SQHIGH 11 13 24 0 22 22 Cosmic_Gene C C A C C TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 80816 18 31325534 31325534 37 AML diagnosis snv DLG3 missense P521T NM_021120 20-PARGDB DLG3 MISSENSE SNP Somatic 2 0.158 SQHIGH 4 27 31 0 43 43 Cosmic_Gene C C A C C TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 1741 X 69711997 69711997 16 AML relapse snv LAMC1 missense V839A NM_002293 20-PARGDB LAMC1 MISSENSE SNP Somatic 5 0.209 SQHIGH 16 19 35 1 35 36 Cosmic_Gene T T C T T TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 3915 1 183093880 183093880 48 AML relapse snv COL19A1 missense P538L NM_001858 20-PARGDB COL19A1 MISSENSE SNP dbsnp.134:rs143251981 Somatic 10 0.351 SQHIGH 10 21 31 1 23 24 Cosmic_Gene C C T C C TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 1310 6 70852699 70852699 20 AML relapse snv RAPGEF5 missense G4R NM_012294 20-PARGDB RAPGEF5 MISSENSE SNP Somatic PFAM:PF00610:DEP 10 0.351 SQHIGH 14 12 26 0 19 19 Cosmic_Gene C C T C C TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 9771 7 22349630 22349630 42 AML relapse snv ERP44 missense R59P NM_015051 20-PARGDB ERP44 MISSENSE SNP Somatic 4 0.190 SQHIGH 15 11 26 1 33 34 C C G C C TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 23071 9 102814809 102814809 57 AML relapse snv TAS2R31 missense V80L NM_176885 20-PARGDB TAS2R31|PRH1-PRR4 MISSENSE|INTRON SNP dbsnp.130:rs73049074 Somatic PFAM:PF03402:V1R -3 0.096 SQHIGH 6 28 34 0 38 38 C C A C C TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 259290|100533464 12 11183697 11183697 21 AML relapse snv SYNE2 silent N4900N NM_015180 20-PARGDB SYNE2 SYNONYMOUS SNP Somatic 8 0.282 SQHIGH 19 20 39 0 18 18 Cosmic_Gene C C T C C TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 23224 14 64604558 64604558 40 AML relapse snv FKRP missense L413V NM_024301 20-PARGDB FKRP MISSENSE SNP Somatic PFAM:PF04991:LicD 10 0.351 SQHIGH 8 13 21 0 21 21 Cosmic_Gene T T G T T TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 79147 19 47259944 47259944 28 AML relapse snv FIZ1 missense C109Y NM_032836 20-PARGDB FIZ1 MISSENSE SNP Somatic -1 0.116 SQHIGH 4 12 16 0 18 18 C C T C C TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 84922 19 56104981 56104981 14 AML relapse snv TMEM164 silent K65K NM_032227 20-PARGDB TMEM164 SYNONYMOUS,INTRON SNP Somatic 11 0.389 SQHIGH 17 23 40 0 26 26 Cosmic_Gene G G A G G TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 84187 X 109247197 109247197 45 AML diagnosis snv UBE4B missense R1191W NM_001105562 20-PARGVC UBE4B MISSENSE SNP Somatic PFAM:PF10408:Ufd2P_core 17 0.842 SQHIGH 21 19 40 0 39 39 Cosmic_Gene C C T C C TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 10277 1 10238747 10238747 78 AML diagnosis snv TRABD2A missense R198W NM_001080824 20-PARGVC TRABD2A MISSENSE SNP Somatic PFAM:PF01963:TraB 3 0.139 SQHIGH 10 37 47 2 50 52 Cosmic_Gene G G A G G TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 129293 2 85097426 85097426 21 AML diagnosis snv SATB2-AS1 EXON E1_exon NM_015265 20-PARGVC FLJ32063|SATB2 UTR|UTR5 SNP Somatic 0 0.103 SQHIGH 19 16 35 0 20 20 Cosmic_Gene G G T G G TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 150538|23314 2 200335984 200335984 48 AML diagnosis snv DAG1 missense E278G NM_001165928 20-PARGVC DAG1 MISSENSE SNP Somatic 6 0.196 SQHIGH 17 37 54 0 34 34 Cosmic_Gene A A G A A TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 1605 3 49568777 49568777 41 AML diagnosis snv SRP72 silent L578L NM_006947 20-PARGVC SRP72|ARL9 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF08492:SRP72 6 0.196 SQHIGH 12 11 23 1 22 23 Cosmic_Gene C C T C C TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 6731|132946 4 57366755 57366755 35 AML diagnosis snv KIAA1109 missense R4376K NM_015312 20-PARGVC KIAA1109 MISSENSE SNP Somatic -3 0.076 SQHIGH 5 32 37 1 54 55 Cosmic_Gene G G A G G TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 84162 4 123268932 123268932 14 AML diagnosis snv ME1 missense V276I NM_002395 20-PARGVC ME1 MISSENSE SNP Somatic 7 0.221 SQHIGH 11 18 29 0 43 43 Cosmic_Gene C C T C C TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 4199 6 83949344 83949344 49 AML diagnosis snv LRIT1 silent D306D NM_015613 20-PARGVC LRIT1 SYNONYMOUS SNP Somatic PFAM:PF00047:ig 15 0.638 SQHIGH 15 11 26 0 23 23 G G A G G TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 26103 10 85992637 85992637 53 AML diagnosis snv KRAS missense G12D NM_033360 20-PARGVC KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 16 0.715 SQHIGH 11 13 24 0 30 30 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 3845 12 25398284 25398284 46 AML diagnosis snv GPC5-AS2 EXON E7_exon NM_004466 20-PARGVC GPC5 INTRON SNP Somatic 10 0.313 SQHIGH 11 27 38 0 18 18 Cosmic_Gene G G T G G TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 2262 13 93004413 93004413 21 AML diagnosis snv LIG3 missense Y70H NM_013975 20-PARGVC LIG3 MISSENSE SNP Somatic 4 0.153 SQHIGH 13 29 42 0 54 54 Cosmic_Gene T T C T T TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 3980 17 33310232 33310232 52 AML diagnosis snv PTPRT missense V1044I NM_133170 20-PARGVC PTPRT MISSENSE SNP Somatic 14 0.544 SQHIGH 27 32 59 0 59 59 Cosmic_Gene C C T C C TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 11122 20 40743865 40743865 98 AML diagnosis snv OBSCN missense A3087S NM_052843 20-PARHVK OBSCN MISSENSE SNP Somatic PFAM:PF00047:ig 12 0.556 SQHIGH 12 14 26 1 46 47 Cosmic_Gene G G T G G TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 84033 1 228474033 228474033 Somatic Illumina 53 26848 21629 48500 50690 14 50715 AML diagnosis snv HTR2B missense K53I NM_000867 20-PARHVK PSMD1|HTR2B INTRON|MISSENSE SNP Somatic 6 0.259 SQHIGH 12 27 39 1 61 62 Cosmic_Gene T T A T T TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 5707|3357 2 231988321 231988321 Somatic Illumina 45 77893 66150 144241 165314 38 165609 AML diagnosis snv NDST4 missense R369Q NM_022569 20-PARHVK NDST4 MISSENSE SNP Somatic PFAM:PF12062:HSNSD 5 0.211 SQHIGH 15 22 37 0 37 37 Cosmic_Gene C C T C C TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 64579 4 115891701 115891701 Somatic Illumina 53 71104 40566 111689 100030 53 100102 AML diagnosis snv LRRN3 nonsense W684* NM_001099660 20-PARHVK IMMP2L|LRRN3 INTRON|NONSENSE SNP Somatic 12 0.556 SQHIGH 22 17 39 1 67 68 Cosmic_Gene G G A G G TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 83943|54674 7 110764879 110764879 Somatic Illumina 106 30092 24569 54666 70669 19 70704 AML diagnosis snv RNF148 missense R224W NM_198085 20-PARHVK RNF133|CADPS2|RNF148 TSS-UPSTREAM|INTRON|MISSENSE SNP Somatic 9 0.376 SQHIGH 22 25 47 0 69 69 Cosmic_Gene T T A T T TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 168433|93664|378925 7 122342135 122342135 Somatic Illumina 103 59951 50008 110219 115497 21 115764 AML diagnosis snv EZH2 splice R727_E20splice NM_001203247 20-PARHVK EZH2 DISRUPT SNP Somatic -7 0.061 SQHIGH 5 10 15 0 44 44 Cosmic_Gene C C G C C TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 2146 7 148504799 148504799 32 AML diagnosis snv SLC25A16 missense L236F NM_152707 20-PARHVK SLC25A16 MISSENSE SNP Somatic -8 0.056 SQHIGH 6 18 24 2 38 40 T T G T T TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 8034 10 70248289 70248289 16 AML diagnosis snv BRMS1 nonsense S281* NM_001024957 20-PARHVK BRMS1|RIN1 UTR3,NONSENSE|TSS-UPSTREAM SNP Somatic 3 0.167 SQHIGH 8 6 14 0 19 19 Cosmic_Gene G G T G G TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 25855|9610 11 66105170 66105170 Somatic Illumina 37 32102 26605 58771 49339 2 49378 AML diagnosis snv USPL1 silent E44E NM_005800 20-PARHVK USPL1 SYNONYMOUS SNP Somatic -4 0.079 SQHIGH 7 3 10 0 15 15 Cosmic_Gene G G A G G TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 10208 13 31195933 31195933 36 AML diagnosis snv GSE1 nonsense E636* NM_014615 20-PARHVK GSE1 NONSENSE SNP Somatic 13 0.625 SQHIGH 14 19 33 0 51 51 Cosmic_Gene G G T G G TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 23199 16 85695017 85695017 Somatic Illumina 66 5299 3371 8671 12991 1 12993 AML diagnosis snv DNAH9 missense L338V NM_004662 20-PARHVK DNAH9 MISSENSE SNP Somatic PFAM:PF03028:Dynein_heavy 11 0.482 SQHIGH 16 25 41 0 58 58 Cosmic_Gene C C G C C TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 1770 17 11833381 11833381 Somatic Illumina 70 12054 11548 23616 24237 5 24253 AML diagnosis snv FAM47B missense P297L NM_152631 20-PARHVK FAM47B MISSENSE SNP Somatic 1 0.133 SQHIGH 9 15 24 0 79 79 Cosmic_Gene C C T C C TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 170062 X 34961838 34961838 Somatic Illumina 63 672 1771 2444 2634 0 2636 AML diagnosis complex SETD2 frameshift R2121fs NM_014159 20-PARHVK SETD2 FRAMESHIFT Sub Somatic -1 0.569 SQHIGH 46 6 52 0 77 77 Cosmic_Gene CG CG CCC CG CG TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 29072 3 47098912 47098913 Somatic Illumina 281 11202 85569 97142 114317 32 114526 AML diagnosis complex LTBP2 frameshift D1305fs NM_000428 20-PARHVK LTBP2 FRAMESHIFT Sub Somatic PFAM:PF07645:EGF_CA -6 0.306 SQHIGH 13 12 25 0 35 35 Cosmic_Gene CG CG CTGGCC CG CG TARGET-20-PARHVK-09A-01D TARGET-20-PARHVK-14A-01D 4053 14 74973518 74973519 Somatic Sanger 60 0 0 0 0 0 0 AML diagnosis snv MEAF6 missense L88F NM_022756 20-PARIEG MEAF6 MISSENSE SNP Somatic PFAM:PF09340:NuA4 -4 0.076 SQHIGH 9 39 48 0 67 67 G G A G G TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 64769 1 37975088 37975088 36 AML diagnosis snv NRAS missense G12D NM_002524 20-PARIEG NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic 1 0.125 SQHIGH 10 34 44 0 68 68 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 4893 1 115258747 115258747 44 AML diagnosis snv RASSF5 missense R277Q NM_182663 20-PARIEG RASSF5 MISSENSE SNP Somatic PFAM:PF00789:UBX -9 0.049 SQHIGH 9 53 62 0 83 83 Cosmic_Gene G G A G G TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 83593 1 206757858 206757858 35 AML diagnosis snv SOX11 missense A186S NM_003108 20-PARIEG SOX11 MISSENSE SNP Somatic 4 0.174 SQHIGH 15 7 22 0 41 41 Cosmic_Gene G G T G G TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 6664 2 5833409 5833409 89 AML diagnosis snv ARL6IP6 missense S166P NM_152522 20-PARIEG ARL6IP6 MISSENSE,UTR SNP Somatic -7 0.059 SQHIGH 3 8 11 0 35 35 T T C T T TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 151188 2 153591549 153591549 20 AML diagnosis snv ARL6IP6 missense C167Y NM_152522 20-PARIEG ARL6IP6 MISSENSE,UTR SNP Somatic -7 0.059 SQHIGH 3 8 11 0 37 37 G G A G G TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 151188 2 153591553 153591553 20 AML diagnosis snv RAPH1 silent E265E NM_213589 20-PARIEG RAPH1 SYNONYMOUS SNP Somatic 0 0.114 SQHIGH 11 9 20 0 35 35 Cosmic_Gene C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 65059 2 204326586 204326586 59 AML diagnosis snv IQCA1 nonsense R69* NM_024726 20-PARIEG IQCA1 NONSENSE SNP Somatic 18 0.931 SQHIGH 15 11 26 1 50 51 Cosmic_Gene G G A G G TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 79781 2 237405937 237405937 75 AML diagnosis snv DNAJB8-AS1 EXON E3_exon NM_153330 20-PARIEG DNAJB8-AS1|DNAJB8 UTR|UTR5 SNP Somatic 13 0.540 SQHIGH 41 33 74 0 77 77 A A G A A TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 285224|165721 3 128182880 128182880 162 AML diagnosis snv GATA2 missense A372T NM_001145661 20-PARIEG GATA2 MISSENSE SNP Somatic 5 0.201 SQHIGH 13 14 27 0 23 23 Cosmic_Gene C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 2624 3 128200691 128200691 42 AML diagnosis snv PPP2R3A silent P321P NM_002718 20-PARIEG PPP2R3A SYNONYMOUS,INTRON SNP Somatic -8 0.054 SQHIGH 7 34 41 1 46 47 Cosmic_Gene C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 5523 3 135721303 135721303 17 AML diagnosis snv FGF5 missense H21Q NM_004464 20-PARIEG FGF5 MISSENSE SNP Somatic 0 0.114 SQHIGH 12 14 26 0 46 46 Cosmic_Gene C C A C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 2250 4 81188041 81188041 62 AML diagnosis snv SLC9B2 silent V351V NM_178833 20-PARIEG SLC9B2 SYNONYMOUS SNP Somatic -7 0.059 SQHIGH 3 10 13 0 37 37 C C A C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 133308 4 103964546 103964546 18 AML diagnosis snv FAXDC2 nonsense R114* NM_032385 20-PARIEG FAXDC2 NONSENSE SNP Somatic PFAM:PF04116:FA_hydroxylase 14 0.622 SQHIGH 26 27 53 0 90 90 Cosmic_Gene G G A G G TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 10826 5 154210387 154210387 134 AML diagnosis snv LIPN silent L346L NM_001102469 20-PARIEG LIPN SYNONYMOUS SNP Somatic 13 0.540 SQHIGH 25 29 54 1 53 54 C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 643418 10 90537840 90537840 79 AML diagnosis snv MUC5B missense T3199M NM_002458 20-PARIEG MUC5B MISSENSE SNP Somatic -8 0.054 SQHIGH 9 47 56 1 75 76 C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 727897 11 1267706 1267706 27 AML diagnosis snv KRAS missense A146T NM_033360 20-PARIEG KRAS MISSENSE SNP dbsnp.133:rs121913527 Somatic -37 0.001 2 21 23 0 44 44 COSMIC:mut:19404 Cosmic_Gene C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 3845 12 25378562 25378562 9 AML diagnosis snv AKAP5 silent A51A NM_004857 20-PARIEG AKAP5 SYNONYMOUS SNP Somatic -10 0.045 SQHIGH 4 21 25 0 55 55 T T A T T TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 9495 14 64935265 64935265 21 AML diagnosis snv PLEKHG3 missense I287N NM_015549 20-PARIEG PLEKHG3 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 11 0.419 SQHIGH 39 50 89 1 64 65 Cosmic_Gene T T A T T TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 26030 14 65198257 65198257 99 AML diagnosis snv CES4A silent A250A NM_173815 20-PARIEG CES4A SYNONYMOUS SNP Somatic PFAM:PF06342:DUF1057 14 0.622 SQHIGH 51 38 89 1 95 96 Cosmic_Gene G G A G G TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 283848 16 67037032 67037032 192 AML diagnosis snv B3GNT9 silent P39P NM_033309 20-PARIEG B3GNT9 SYNONYMOUS SNP Somatic -9 0.049 SQHIGH 4 10 14 0 24 24 C C G C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 84752 16 67184272 67184272 19 AML diagnosis snv NEURL4 silent G16G NM_032442 20-PARIEG NEURL4 SYNONYMOUS SNP Somatic -9 0.049 SQHIGH 4 13 17 0 20 20 Cosmic_Gene T T C T T TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 84461 17 7232584 7232584 14 AML diagnosis snv NEURL4 silent P15P NM_032442 20-PARIEG NEURL4 SYNONYMOUS SNP Somatic -7 0.059 SQHIGH 4 14 18 0 19 19 Cosmic_Gene A A C A A TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 84461 17 7232587 7232587 13 AML diagnosis snv MYH4 nonsense Y435* NM_017533 20-PARIEG MYH4 NONSENSE SNP Somatic 1 0.125 SQHIGH 8 36 44 0 47 47 Cosmic_Gene G G T G G TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 4622 17 10363380 10363380 27 AML diagnosis snv U2AF1 missense R156H NM_006758 20-PARIEG U2AF1 MISSENSE SNP Somatic PFAM:PF00642:zf-CCCH 3 0.155 SQHIGH 7 15 22 0 24 24 C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 7307 21 44514780 44514780 25 AML diagnosis snv MTM1 missense H312Y NM_000252 20-PARIEG MTM1 MISSENSE SNP Somatic -4 0.076 SQHIGH 4 15 19 0 43 43 Cosmic_Gene C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 4534 X 149818255 149818255 22 AML relapse snv LRP1B missense R790Q NM_018557 20-PARIHK LRP1B MISSENSE SNP Somatic 14 0.542 SQHIGH 22 19 41 0 22 22 Cosmic_Gene C C T C C TARGET-20-PARIHK-04A-02D TARGET-20-PARIHK-14A-02D 53353 2 141771136 141771136 53 AML relapse snv DOK3 missense H166D NM_024872 20-PARIHK DOK3 INTRON,MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 -2 0.082 SQHIGH 3 23 26 0 43 43 G G C G G TARGET-20-PARIHK-04A-02D TARGET-20-PARIHK-14A-02D 79930 5 176935282 176935282 13 AML relapse snv L3MBTL3 splice_region F35_E4splice_region NM_032438 20-PARIHK L3MBTL3 ACCEPTOR SNP Somatic -3 0.075 SQHIGH 7 38 45 0 44 44 Cosmic_Gene G G T G G TARGET-20-PARIHK-04A-02D TARGET-20-PARIHK-14A-02D 84456 6 130370419 130370419 22 AML relapse snv ANKRD30A missense R1233H NM_052997 20-PARIHK ANKRD30A MISSENSE SNP Somatic 8 0.247 SQHIGH 14 21 35 0 20 20 Cosmic_Gene G G A G G TARGET-20-PARIHK-04A-02D TARGET-20-PARIHK-14A-02D 91074 10 37508506 37508506 33 AML relapse snv MYO1D missense V47I NM_015194 20-PARIHK MYO1D MISSENSE SNP Somatic 11 0.355 SQHIGH 6 31 37 0 35 35 Cosmic_Gene C C T C C TARGET-20-PARIHK-04A-02D TARGET-20-PARIHK-14A-02D 4642 17 31107759 31107759 18 AML diagnosis snv EVC2 missense E926K NM_147127 20-PARIHK EVC2 MISSENSE SNP Somatic 0 0.102 SQHIGH 21 99 120 0 75 75 Cosmic_Gene C C T C C TARGET-20-PARIHK-09A-02D TARGET-20-PARIHK-14A-02D 132884 4 5617202 5617202 48 AML diagnosis snv AFM missense G392V NM_001133 20-PARIHK AFM MISSENSE SNP Somatic PFAM:PF00273:Serum_albumin -20 0.015 6 25 31 1 34 35 Cosmic_Gene G G T G G TARGET-20-PARIHK-09A-02D TARGET-20-PARIHK-14A-02D 173 4 74361133 74361133 14 AML diagnosis snv NPR3 splice_region G298_E2splice_region NM_000908 20-PARIHK NPR3 INTRON SNP Somatic -9 0.047 SQHIGH 6 56 62 0 37 37 Cosmic_Gene G G C G G TARGET-20-PARIHK-09A-02D TARGET-20-PARIHK-14A-02D 4883 5 32724935 32724935 13 AML diagnosis snv DUSP1 missense K57M NM_004417 20-PARIHK DUSP1 MISSENSE SNP Somatic -1 0.091 SQHIGH 3 9 12 0 20 20 Cosmic_Gene T T A T T TARGET-20-PARIHK-09A-02D TARGET-20-PARIHK-14A-02D 1843 5 172197786 172197786 14 AML diagnosis snv PTRH1 missense A73G NM_001002913 20-PARIHK PTRH1|TTC16 MISSENSE|TSS-UPSTREAM SNP Somatic -10 0.044 SQHIGH 7 30 37 0 16 16 G G C G G TARGET-20-PARIHK-09A-02D TARGET-20-PARIHK-14A-02D 138428|158248 9 130477352 130477352 12 AML diagnosis snv CCDC83 missense R297Q NM_173556 20-PARIHK CCDC83 MISSENSE SNP Somatic 0 0.102 SQHIGH 9 25 34 0 29 29 Cosmic_Gene G G A G G TARGET-20-PARIHK-09A-02D TARGET-20-PARIHK-14A-02D 220047 11 85626464 85626464 27 AML diagnosis snv SLC5A5 splice_region Q323_E7splice_region NM_000453 20-PARIHK SLC5A5 INTRON SNP Somatic 3 0.138 SQHIGH 6 22 28 0 23 23 Cosmic_Gene C C G C C TARGET-20-PARIHK-09A-02D TARGET-20-PARIHK-14A-02D 6528 19 17988910 17988910 17 AML diagnosis snv CELSR1 silent G1825G NM_014246 20-PARIHK CELSR1 SYNONYMOUS SNP Somatic -8 0.051 SQHIGH 7 56 63 0 43 43 Cosmic_Gene G G A G G TARGET-20-PARIHK-09A-02D TARGET-20-PARIHK-14A-02D 9620 22 46794472 46794472 16 AML relapse snv ZFHX4 missense P2842Q NM_024721 20-PARIMT ZFHX4 MISSENSE SNP Somatic -8 0.062 SQHIGH 4 27 31 0 44 44 Cosmic_Gene C C A C C TARGET-20-PARIMT-04A-01D TARGET-20-PARIMT-10A-01D 79776 8 77767682 77767682 16 AML relapse snv IL2RA missense C168F NM_000417 20-PARIMT IL2RA MISSENSE SNP Somatic -5 0.079 SQHIGH 4 26 30 0 52 52 Cosmic_Gene C C A C C TARGET-20-PARIMT-04A-01D TARGET-20-PARIMT-10A-01D 3559 10 6063521 6063521 18 AML relapse snv IL2RA missense V167D NM_000417 20-PARIMT IL2RA MISSENSE SNP Somatic -2 0.106 SQHIGH 4 20 24 0 41 41 Cosmic_Gene A A T A A TARGET-20-PARIMT-04A-01D TARGET-20-PARIMT-10A-01D 3559 10 6063524 6063524 18 AML relapse snv VSX2 silent P270P NM_182894 20-PARIMT VSX2 SYNONYMOUS SNP Somatic 1 0.145 SQHIGH 4 25 29 1 71 72 Cosmic_Gene C C A C C TARGET-20-PARIMT-04A-01D TARGET-20-PARIMT-10A-01D 338917 14 74727346 74727346 16 AML diagnosis snv TMEM57 missense R408S NM_018202 20-PARIMT TMEM57 MISSENSE SNP Somatic PFAM:PF09726:Macoilin -3 0.116 SQHIGH 4 7 11 0 12 12 C C A C C TARGET-20-PARIMT-09A-01D TARGET-20-PARIMT-10A-01D 55219 1 25810674 25810674 14 AML diagnosis snv HRNR missense G490S NM_001009931 20-PARIMT HRNR MISSENSE SNP dbsnp.134:rs138042599 Somatic -10 0.064 SQHIGH 5 35 40 0 85 85 Cosmic_Gene C C T C C TARGET-20-PARIMT-09A-01D TARGET-20-PARIMT-10A-01D 388697 1 152192637 152192637 26 AML diagnosis snv EPB41L5 splice Q669_E24splice NM_020909 20-PARIMT EPB41L5 DISRUPT,INTRON SNP Somatic 2 0.189 SQHIGH 7 15 22 0 19 19 Cosmic_Gene G G A G G TARGET-20-PARIMT-09A-01D TARGET-20-PARIMT-10A-01D 57669 2 120925452 120925452 21 AML diagnosis snv FOXP2 missense A212S NM_014491 20-PARIMT FOXP2 MISSENSE,UTR SNP Somatic 3 0.208 SQHIGH 7 22 29 0 14 14 Cosmic_Gene G G T G G TARGET-20-PARIMT-09A-01D TARGET-20-PARIMT-10A-01D 93986 7 114271619 114271619 13 AML diagnosis snv PTPRJ missense N747K NM_002843 20-PARIMT LOC100287223|PTPRJ SYNONYMOUS|MISSENSE SNP Somatic 8 0.353 SQHIGH 17 28 45 0 43 43 Cosmic_Gene T T A T T TARGET-20-PARIMT-09A-01D TARGET-20-PARIMT-10A-01D 100287223|5795 11 48161126 48161126 57 AML diagnosis snv LEMD3 missense P129S NM_014319 20-PARIMT LEMD3 MISSENSE SNP Somatic -10 0.064 SQHIGH 5 18 23 0 23 23 Cosmic_Gene C C T C C TARGET-20-PARIMT-09A-01D TARGET-20-PARIMT-10A-01D 23592 12 65563761 65563761 16 AML diagnosis snv SLC5A11 missense S607R NM_052944 20-PARIMT SLC5A11 MISSENSE SNP Somatic -24 0.016 5 24 29 0 65 65 Cosmic_Gene C C A C C TARGET-20-PARIMT-09A-01D TARGET-20-PARIMT-10A-01D 115584 16 24921797 24921797 27 AML diagnosis snv AJAP1 missense V361I NM_018836 20-PARIZR AJAP1 MISSENSE SNP Somatic 19 0.975 SQHIGH 19 13 32 0 36 36 Cosmic_Gene G G A G G TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 55966 1 4832503 4832503 80 AML diagnosis snv TPRG1 silent S30S NM_198485 20-PARIZR TPRG1 SYNONYMOUS SNP dbsnp.134:rs149852782 Somatic 19 0.975 SQHIGH 17 19 36 2 41 43 G G A G G TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 285386 3 188925263 188925263 50 AML diagnosis snv DHX15 missense R222G NM_001358 20-PARIZR DHX15 MISSENSE SNP Somatic 18 0.902 SQHIGH 16 14 30 0 32 32 Cosmic_Gene G G C G G TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 1665 4 24572314 24572314 63 AML diagnosis snv GMPR missense R39Q NM_006877 20-PARIZR GMPR MISSENSE SNP Somatic 5 0.208 SQHIGH 30 44 74 1 64 65 Cosmic_Gene G G A G G TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 2766 6 16247101 16247101 85 AML diagnosis snv THBS2 silent S994S NM_003247 20-PARIZR THBS2 SYNONYMOUS SNP Somatic PFAM:PF05735:TSP_C 6 0.234 SQHIGH 19 36 55 0 48 48 Cosmic_Gene C C T C C TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 7058 6 169623362 169623362 59 AML diagnosis snv GABBR2 missense V741M NM_005458 20-PARIZR GABBR2 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 18 0.902 SQHIGH 19 16 35 1 36 37 Cosmic_Gene C C T C C TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 9568 9 101068411 101068411 63 AML diagnosis snv ACACB silent L2448L NM_001093 20-PARIZR ACACB SYNONYMOUS SNP Somatic -4 0.090 SQHIGH 4 10 14 0 22 22 Cosmic_Gene G G C G G TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 32 12 109704134 109704134 18 AML diagnosis snv ST3GAL2 missense R162W NM_006927 20-PARIZR ST3GAL2 MISSENSE SNP Somatic PFAM:PF00777:Glyco_transf_29 12 0.457 SQHIGH 29 28 57 0 52 52 Cosmic_Gene G G A G G TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 6483 16 70428934 70428934 102 AML diagnosis snv ELAVL3 missense V13G NM_001420 20-PARIZR ELAVL3 MISSENSE SNP Somatic -6 0.076 SQHIGH 6 15 21 0 21 21 Cosmic_Gene A A C A A TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 1995 19 11577614 11577614 20 AML diagnosis snv ZNF831 missense G604S NM_178457 20-PARIZR ZNF831 MISSENSE SNP Somatic 6 0.234 SQHIGH 13 16 29 0 37 37 Cosmic_Gene G G A G G TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 128611 20 57767884 57767884 55 AML diagnosis complex ZNF687 proteinIns S759_R760>AHPLGPAPC NM_020832 20-PARIZR ZNF687 INSERT+ Sub Somatic -9 0.269 SQHIGH 26 27 53 1 66 67 Cosmic_Gene CTCTC CTCTC CGCCCACCCCCTAGGCCCCGCCCCGT CTCTC CTCTC TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 57592 1 151261162 151261166 99 AML relapse snv NBEAL2 missense A2356V NM_015175 20-PARJCR NBEAL2 MISSENSE SNP Somatic 11 0.346 SQHIGH 33 41 74 0 58 58 Cosmic_Gene C C T C C TARGET-20-PARJCR-04A-02D TARGET-20-PARJCR-14A-01D 23218 3 47047872 47047872 101 AML relapse snv CDH6 silent G242G NM_004932 20-PARJCR CDH6 SYNONYMOUS SNP dbsnp.134:rs150406388 Somatic 14 0.538 SQHIGH 8 17 25 0 33 33 Cosmic_Gene C C T C C TARGET-20-PARJCR-04A-02D TARGET-20-PARJCR-14A-01D 1004 5 31299653 31299653 32 AML relapse snv NAT10 missense R32Q NM_024662 20-PARJCR NAT10 INTRON,MISSENSE SNP Somatic 5 0.158 SQHIGH 19 36 55 1 77 78 Cosmic_Gene G G A G G TARGET-20-PARJCR-04A-02D TARGET-20-PARJCR-14A-01D 55226 11 34129867 34129867 71 AML relapse snv IKBIP silent T310T NM_201612 20-PARJCR IKBIP UTR3,SYNONYMOUS SNP Somatic 17 0.852 SQHIGH 12 25 37 0 45 45 G G A G G TARGET-20-PARJCR-04A-02D TARGET-20-PARJCR-14A-01D 121457 12 99007486 99007486 47 AML relapse snv DNAH9 silent L1097L NM_001372 20-PARJCR DNAH9 SYNONYMOUS SNP Somatic -4 0.064 SQHIGH 4 17 21 0 26 26 Cosmic_Gene G G T G G TARGET-20-PARJCR-04A-02D TARGET-20-PARJCR-14A-01D 1770 17 11573049 11573049 15 AML diagnosis snv ABI2 missense S237G NM_005759 20-PARJCR ABI2 MISSENSE SNP Somatic -8 0.045 SQHIGH 4 8 12 0 19 19 A A G A A TARGET-20-PARJCR-09A-02D TARGET-20-PARJCR-14A-01D 10152 2 204260380 204260380 18 AML diagnosis snv ACKR3 missense V310F NM_020311 20-PARJCR ACKR3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.179 SQHIGH 4 17 21 0 23 23 Cosmic_Gene G G T G G TARGET-20-PARJCR-09A-02D TARGET-20-PARJCR-14A-01D 57007 2 237490036 237490036 14 AML diagnosis snv NBEAL2 missense A2356V NM_015175 20-PARJCR NBEAL2 MISSENSE SNP Somatic 14 0.523 SQHIGH 29 25 54 0 58 58 Cosmic_Gene C C T C C TARGET-20-PARJCR-09A-02D TARGET-20-PARJCR-14A-01D 23218 3 47047872 47047872 115 AML diagnosis snv CDH6 silent G242G NM_004932 20-PARJCR CDH6 SYNONYMOUS SNP dbsnp.134:rs150406388 Somatic 14 0.523 SQHIGH 11 26 37 0 33 33 Cosmic_Gene C C T C C TARGET-20-PARJCR-09A-02D TARGET-20-PARJCR-14A-01D 1004 5 31299653 31299653 34 AML diagnosis snv NAT10 missense R32Q NM_024662 20-PARJCR NAT10 INTRON,MISSENSE SNP Somatic 10 0.293 SQHIGH 31 34 65 1 77 78 Cosmic_Gene G G A G G TARGET-20-PARJCR-09A-02D TARGET-20-PARJCR-14A-01D 55226 11 34129867 34129867 115 AML diagnosis snv IKBIP silent T310T NM_201612 20-PARJCR IKBIP UTR3,SYNONYMOUS SNP Somatic 20 0.999 SQHIGH 16 15 31 0 45 45 G G A G G TARGET-20-PARJCR-09A-02D TARGET-20-PARJCR-14A-01D 121457 12 99007486 99007486 76 AML diagnosis snv SHISA9 missense F97I NM_001145204 20-PARJCR SHISA9 MISSENSE SNP Somatic -5 0.058 SQHIGH 5 9 14 0 12 12 T T A T T TARGET-20-PARJCR-09A-02D TARGET-20-PARJCR-14A-01D 729993 16 12996210 12996210 15 AML diagnosis snv HEXIM1 missense E42K NM_006460 20-PARJCR HEXIM1 MISSENSE SNP Somatic 14 0.523 SQHIGH 10 17 27 0 26 26 Cosmic_Gene G G A G G TARGET-20-PARJCR-09A-02D TARGET-20-PARJCR-14A-01D 10614 17 43226681 43226681 34 AML diagnosis snv CA6 silent L10L NM_001215 20-PARJYP CA6 SYNONYMOUS SNP dbsnp.126:rs34649225 Somatic -2 0.094 SQHIGH 8 9 17 0 10 10 Cosmic_Gene G G A G G TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 765 1 9005975 9005975 20 AML diagnosis snv MYSM1 missense S625T NM_001085487 20-PARJYP MYSM1 MISSENSE SNP Somatic -9 0.050 SQHIGH 4 9 13 0 14 14 Cosmic_Gene C C G C C TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 114803 1 59132867 59132867 14 AML diagnosis snv SMYD5 missense C348S NM_006062 20-PARJYP SMYD5 MISSENSE SNP Somatic PFAM:PF00856:SET 18 0.896 SQHIGH 15 18 33 0 30 30 G G C G G TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 10322 2 73452766 73452766 51 AML diagnosis snv SLU7 nonsense Q574* NM_006425 20-PARJYP SLU7|C5orf54 NONSENSE|TSS-UPSTREAM SNP Somatic 12 0.399 SQHIGH 10 16 26 0 33 33 Cosmic_Gene G G A G G TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 10569|63920 5 159830333 159830333 41 AML diagnosis snv ERVFRD-1 missense S270P NM_207582 20-PARJYP ERVFRD-1|C6orf228 MISSENSE|INTRON SNP Somatic -6 0.065 SQHIGH 9 12 21 0 15 15 Cosmic_Gene A A G A A TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 405754|221710 6 11104736 11104736 25 AML diagnosis snv PTPLA missense I159V NM_014241 20-PARJYP PTPLA MISSENSE SNP Somatic PFAM:PF04387:PTPLA 2 0.137 SQHIGH 4 21 25 0 29 29 Cosmic_Gene T T C T T TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 9200 10 17645567 17645567 14 AML diagnosis snv PTPLA missense H157Q NM_014241 20-PARJYP PTPLA MISSENSE SNP Somatic PFAM:PF04387:PTPLA -1 0.102 SQHIGH 4 19 23 0 25 25 Cosmic_Gene G G T G G TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 9200 10 17645571 17645571 13 AML diagnosis snv RAB6A missense Y42H NM_002869 20-PARJYP RAB6A MISSENSE SNP Somatic -7 0.060 SQHIGH 6 16 22 0 28 28 A A G A A TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 5870 11 73441815 73441815 23 AML diagnosis snv LRP6 missense D351E NM_002336 20-PARJYP LRP6 MISSENSE SNP Somatic 1 0.124 SQHIGH 4 26 30 0 50 50 Cosmic_Gene G G T G G TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 4040 12 12334297 12334297 18 AML diagnosis snv LRP6 missense T350I NM_002336 20-PARJYP LRP6 MISSENSE SNP Somatic -1 0.102 SQHIGH 4 27 31 0 48 48 Cosmic_Gene G G A G G TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 4040 12 12334301 12334301 17 AML diagnosis snv FNDC3A missense R996W NM_001079673 20-PARJYP FNDC3A MISSENSE SNP Somatic PFAM:PF00041:fn3 17 0.803 SQHIGH 19 23 42 0 42 42 Cosmic_Gene C C T C C TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 22862 13 49772709 49772709 69 AML diagnosis snv AXIN1 missense A526G NM_003502 20-PARJYP AXIN1 MISSENSE SNP Somatic -11 0.043 5 17 22 0 25 25 Cosmic_Gene G G C G G TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 8312 16 347929 347929 18 AML diagnosis snv LOC286437 EXON E1_exon NM_001012755 20-PARJYP MCART6|LOC286437 INTRON|UTR SNP Somatic -8 0.055 SQHIGH 5 20 25 0 17 17 A A T A A TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 401612|286437 X 103368262 103368262 12 AML diagnosis snv SPANXN2 missense Q162K NM_001009615 20-PARJYP SPANXN2 MISSENSE SNP Somatic 11 0.353 SQHIGH 14 26 40 1 40 41 Cosmic_Gene G G T G G TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 494119 X 142795194 142795194 39 AML diagnosis mnv IQGAP2 missense I294R NM_006633 20-PARJYP IQGAP2 MISSENSE Sub Somatic -9 0.268 SQHIGH 4 16 20 0 28 28 Cosmic_Gene TC TC GA TC TC TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 10788 5 75888724 75888725 16 AML diagnosis snv FLT3 missense S451F NM_004119 20-PARKCX FLT3 MISSENSE SNP Somatic 8 0.297 SQHIGH 8 21 29 0 32 32 Cosmic_Gene G G A G G TARGET-20-PARKCX-09A-02D TARGET-20-PARKCX-14A-01D 2322 13 28610138 28610138 28 AML diagnosis snv BDKRB2 silent R169R NM_000623 20-PARKCX BDKRB2 SYNONYMOUS SNP dbsnp.134:rs150911844 Somatic PFAM:PF00001:7tm_1 11 0.408 SQHIGH 15 13 28 0 27 27 Cosmic_Gene C C T C C TARGET-20-PARKCX-09A-02D TARGET-20-PARKCX-14A-01D 624 14 96707172 96707172 55 AML diagnosis snv DUS3L missense S348A NM_020175 20-PARKCX DUS3L|PRR22 MISSENSE|TSS-UPSTREAM SNP Somatic 7 0.270 SQHIGH 8 19 27 0 24 24 A A C A A TARGET-20-PARKCX-09A-02D TARGET-20-PARKCX-14A-01D 56931|163154 19 5788088 5788088 25 AML diagnosis snv C21orf33 missense A210G NM_004649 20-PARKCX C21orf33 MISSENSE SNP Somatic -8 0.074 SQHIGH 5 42 47 0 44 44 Cosmic_Gene C C G C C TARGET-20-PARKCX-09A-02D TARGET-20-PARKCX-14A-01D 8209 21 45563194 45563194 15 AML diagnosis snv COL18A1 missense G78D NM_030582 20-PARKCX COL18A1 INTRON,MISSENSE SNP Somatic PFAM:PF06121:DUF959 -8 0.074 SQHIGH 5 22 27 0 21 21 Cosmic_Gene G G A G G TARGET-20-PARKCX-09A-02D TARGET-20-PARKCX-14A-01D 80781 21 46875677 46875677 13 AML relapse snv LCE3E missense C3S NM_178435 20-PARLVL LCE3E MISSENSE SNP Somatic -8 0.054 SQHIGH 6 22 28 1 78 79 Cosmic_Gene A A T A A TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 353145 1 152538678 152538678 29 AML relapse snv SPICE1 missense E215G NM_144718 20-PARLVL SPICE1 MISSENSE SNP Somatic -9 0.049 SQHIGH 4 11 15 0 18 18 Cosmic_Gene T T C T T TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 152185 3 113188053 113188053 15 AML relapse snv TNXB missense V2271M NM_019105 20-PARLVL TNXB MISSENSE SNP Somatic -1 0.111 SQHIGH 4 6 10 0 31 31 C C T C C TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 7148 6 32032628 32032628 27 AML relapse snv BMP5 missense C418R NM_021073 20-PARLVL BMP5 MISSENSE SNP Somatic PFAM:PF00019:TGF_beta -1 0.111 SQHIGH 7 17 24 0 13 13 Cosmic_Gene A A G A A TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 653 6 55620444 55620444 15 AML relapse snv SLC39A4 missense L536M NM_017767 20-PARLVL SLC39A4|CPSF1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF02535:Zip -3 0.088 SQHIGH 3 3 6 0 18 18 Cosmic_Gene G G T G G TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 55630|29894 8 145638277 145638277 20 AML relapse snv ENHO missense A33V NM_198573 20-PARLVL ENHO MISSENSE SNP Somatic -5 0.071 SQHIGH 6 25 31 1 58 59 G G A G G TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 375704 9 34521596 34521596 22 AML relapse snv C14orf93 missense E484D NM_021944 20-PARLVL C14orf93|JUB MISSENSE|TSS-UPSTREAM SNP Somatic -5 0.071 SQHIGH 3 20 23 0 49 49 Cosmic_Gene T T G T T TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 60686|84962 14 23456589 23456589 15 AML relapse snv CD19 silent N33N NM_001770 20-PARLVL CD19 SYNONYMOUS SNP Somatic 16 0.774 SQHIGH 12 23 35 0 61 61 Cosmic_Gene C C T C C TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 930 16 28943677 28943677 59 AML relapse snv NLRC5 missense P1160L NM_032206 20-PARLVL NLRC5 MISSENSE SNP Somatic -10 0.045 SQHIGH 3 13 16 0 33 33 Cosmic_Gene C C T C C TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 84166 16 57085506 57085506 15 AML relapse snv NLRC5 missense Q1161L NM_032206 20-PARLVL NLRC5 MISSENSE SNP Somatic -10 0.045 SQHIGH 3 16 19 0 37 37 Cosmic_Gene A A T A A TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 84166 16 57085509 57085509 15 AML relapse snv OR1D5 missense F31Y NM_014566 20-PARLVL OR1D5 MISSENSE SNP Somatic -8 0.054 SQHIGH 6 43 49 1 76 77 A A T A A TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 8386 17 2966810 2966810 19 AML relapse snv ME2 missense R225Q NM_002396 20-PARLVL ME2 MISSENSE SNP Somatic PFAM:PF00390:malic 0 0.123 SQHIGH 12 18 30 0 35 35 G G A G G TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 4200 18 48444523 48444523 47 AML relapse snv PNPLA6 missense I731T NM_001166111 20-PARLVL PNPLA6 MISSENSE SNP Somatic -7 0.060 SQHIGH 4 9 13 1 25 26 Cosmic_Gene T T C T T TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 10908 19 7615974 7615974 15 AML diagnosis snv ASB1 missense P32Q NM_001040445 20-PARLVL ASB1 MISSENSE SNP Somatic -5 0.074 SQHIGH 12 85 97 2 69 71 C C A C C TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 51665 2 239342240 239342240 16 AML diagnosis snv PPP2R3A silent P321P NM_002718 20-PARLVL PPP2R3A SYNONYMOUS,INTRON SNP Somatic -6 0.067 SQHIGH 7 60 67 0 51 51 Cosmic_Gene C C T C C TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 5523 3 135721303 135721303 18 AML diagnosis snv BMP5 missense C418R NM_021073 20-PARLVL BMP5 MISSENSE SNP Somatic PFAM:PF00019:TGF_beta 3 0.190 SQHIGH 14 10 24 0 13 13 Cosmic_Gene A A G A A TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 653 6 55620444 55620444 35 AML diagnosis snv SLC39A4 missense L536M NM_017767 20-PARLVL SLC39A4|CPSF1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF02535:Zip 6 0.297 SQHIGH 26 25 51 0 18 18 Cosmic_Gene G G T G G TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 55630|29894 8 145638277 145638277 45 AML diagnosis snv CCDC67 nonsense R72* NM_181645 20-PARLVL CCDC67 NONSENSE SNP Somatic 3 0.190 SQHIGH 10 19 29 0 27 27 Cosmic_Gene C C T C C TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 159989 11 93090126 93090126 32 AML diagnosis snv CD19 silent N33N NM_001770 20-PARLVL CD19 SYNONYMOUS SNP Somatic 4 0.219 SQHIGH 28 44 72 0 61 61 Cosmic_Gene C C T C C TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 930 16 28943677 28943677 88 AML diagnosis snv ME2 missense R225Q NM_002396 20-PARLVL ME2 MISSENSE SNP Somatic PFAM:PF00390:malic 0 0.130 SQHIGH 15 15 30 0 35 35 G G A G G TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 4200 18 48444523 48444523 61 AML diagnosis snv ZNF524 silent G77G NM_153219 20-PARLVL ZNF524|FIZ1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -9 0.051 SQHIGH 14 101 115 0 54 54 C C G C C TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 147807|84922 19 56113709 56113709 25 AML diagnosis mnv GRHL2 splice S298_E7splice NM_024915 20-PARLVL GRHL2 DISRUPT Sub Somatic -3 0.532 SQHIGH 15 50 65 0 56 56 Cosmic_Gene CA CA GT CA CA TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 79977 8 102589633 102589634 44 AML diagnosis snv FCRL5 missense G204R NM_031281 20-PARMGX FCRL5 MISSENSE SNP Somatic -7 0.077 SQHIGH 7 40 47 1 66 67 Cosmic_Gene C C T C C TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 83416 1 157514286 157514286 21 AML diagnosis snv HLX missense G429S NM_021958 20-PARMGX HLX MISSENSE SNP Somatic -2 0.116 SQHIGH 5 23 28 0 29 29 Cosmic_Gene G G A G G TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 3142 1 221057864 221057864 16 AML diagnosis snv HLX missense G430S NM_021958 20-PARMGX HLX MISSENSE SNP Somatic -7 0.077 SQHIGH 4 29 33 0 36 36 Cosmic_Gene G G A G G TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 3142 1 221057867 221057867 13 AML diagnosis snv ALPPL2 missense E437K NM_031313 20-PARMGX ALPPL2 MISSENSE SNP Somatic -7 0.077 SQHIGH 4 19 23 0 56 56 Cosmic_Gene G G A G G TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 251 2 233274292 233274292 22 AML diagnosis snv CASR silent D216D NM_000388 20-PARMGX CASR SYNONYMOUS SNP Somatic PFAM:PF01094:ANF_receptor 14 0.603 SQHIGH 26 14 40 1 85 86 Cosmic_Gene C C T C C TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 846 3 121980530 121980530 151 AML diagnosis snv ALG3 missense F200S NM_005787 20-PARMGX ALG3|ECE2 MISSENSE,UTR|TSS-UPSTREAM SNP dbsnp.132:rs111918145 Somatic PFAM:PF05208:ALG3 2 0.164 SQHIGH 9 46 55 0 117 117 Cosmic_Gene A A G A A TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 10195|9718 3 183962992 183962992 47 AML diagnosis snv TRAF3IP2-AS1 EXON E3_exon NM_147686 20-PARMGX TRAF3IP2|TRAF3IP2-AS1 INTRON,TSS-UPSTREAM|INTRON,UTR SNP Somatic -7 0.077 SQHIGH 7 20 27 0 29 29 Cosmic_Gene T T G T T TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 10758|643749 6 111897585 111897585 24 AML diagnosis snv ENPP1 splice_region L522_E16splice_region NM_006208 20-PARMGX ENPP1 ACCEPTOR SNP Somatic -4 0.097 SQHIGH 3 6 9 0 20 20 Cosmic_Gene C C T C C TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 5167 6 132195402 132195402 16 AML diagnosis snv PTPN12 missense S503P NM_002835 20-PARMGX PTPN12 MISSENSE SNP Somatic -12 0.052 5 24 29 1 52 53 Cosmic_Gene T T C T T TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 5782 7 77256503 77256503 17 AML diagnosis snv MUC17 silent E2767E NM_001040105 20-PARMGX MUC17 SYNONYMOUS SNP Somatic -7 0.077 SQHIGH 3 3 6 0 91 91 Cosmic_Gene G G A G G TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 140453 7 100682998 100682998 39 AML diagnosis snv MUC17 silent A2768A NM_001040105 20-PARMGX MUC17 SYNONYMOUS SNP Somatic -10 0.061 SQHIGH 3 5 8 0 85 85 Cosmic_Gene T T C T T TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 140453 7 100683001 100683001 34 AML diagnosis snv APBA1 missense I804M NM_001163 20-PARMGX APBA1 MISSENSE SNP Somatic 6 0.240 SQHIGH 25 39 64 0 79 79 Cosmic_Gene G G C G G TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 320 9 72047482 72047482 101 AML diagnosis snv NMT2 missense L497Q NM_004808 20-PARMGX NMT2 MISSENSE SNP Somatic PFAM:PF02799:NMT_C -1 0.127 SQHIGH 5 24 29 0 25 25 Cosmic_Gene A A T A A TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 9397 10 15151201 15151201 14 AML diagnosis snv NF1 splice_region E775_E19splice_region NM_000267 20-PARMGX NF1 DONOR SNP Somatic -3 0.106 SQHIGH 6 30 36 0 61 61 Cosmic_Gene A A G A A TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 4763 17 29554312 29554312 27 AML diagnosis snv NF1 splice_region E775_E19splice_region NM_000267 20-PARMGX NF1 INTRON SNP Somatic -3 0.106 SQHIGH 5 32 37 0 63 63 Cosmic_Gene C C T C C TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 4763 17 29554316 29554316 22 AML diagnosis snv VEZF1 missense R104Q NM_007146 20-PARMGX VEZF1 MISSENSE SNP Somatic -8 0.071 SQHIGH 8 50 58 2 83 85 Cosmic_Gene C C T C C TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 7716 17 56060477 56060477 20 AML diagnosis snv C17orf58 silent L51L NM_181655 20-PARMGX C17orf58 UTR3,SYNONYMOUS SNP Somatic PFAM:PF00965:TIMP -2 0.116 SQHIGH 8 12 20 1 38 39 G G A G G TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 284018 17 65988170 65988170 34 AML diagnosis snv SBNO2 missense L725V NM_014963 20-PARMGX SBNO2 MISSENSE SNP Somatic -2 0.116 SQHIGH 6 38 44 1 59 60 G G C G G TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 22904 19 1113608 1113608 17 AML diagnosis snv RYR1 missense M4038I NM_000540 20-PARMGX RYR1 MISSENSE SNP Somatic 12 0.465 SQHIGH 24 26 50 0 78 78 Cosmic_Gene G G A G G TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 6261 19 39038892 39038892 117 AML diagnosis snv SLC6A8 silent V530V NM_005629 20-PARMGX SLC6A8 SYNONYMOUS SNP Somatic PFAM:PF00209:SNF -10 0.061 SQHIGH 8 23 31 1 42 43 Cosmic_Gene C C T C C TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 6535 X 152960082 152960082 25 AML diagnosis mnv SLC6A9 nonsense S45_G46>*R NM_201649 20-PARMGX SLC6A9 INTRON,NONSENSE Sub Somatic -7 0.321 SQHIGH 13 68 81 3 99 102 CAG CAG GCT CAG CAG TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 6536 1 44477346 44477348 27 AML diagnosis complex JAM3 frameshift P285_G286fs NM_032801 20-PARMGX JAM3 FRAMESHIFT Sub Somatic -6 0.342 SQHIGH 9 34 43 1 75 76 Cosmic_Gene CCAG CCAG CTT CCAG CCAG TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 83700 11 134018669 134018672 34 AML diagnosis snv SH3BP5L silent G374G NM_030645 20-PARMZF SH3BP5L SYNONYMOUS SNP Somatic -9 0.046 SQHIGH 5 28 33 0 32 32 C C T C C TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 80851 1 249106159 249106159 15 AML diagnosis snv DAW1 missense E221K NM_178821 20-PARMZF DAW1 MISSENSE SNP Somatic 0 0.098 SQHIGH 16 15 31 0 38 38 Cosmic_Gene G G A G G TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 164781 2 228769657 228769657 68 AML diagnosis snv CLSTN2 silent I44I NM_022131 20-PARMZF CLSTN2 SYNONYMOUS SNP Somatic 15 0.625 SQHIGH 33 30 63 0 56 56 Cosmic_Gene C C T C C TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 64084 3 139894815 139894815 115 AML diagnosis snv CSN2 missense A104T NM_001891 20-PARMZF CSN2 MISSENSE SNP Somatic 12 0.377 SQHIGH 29 21 50 0 56 56 C C T C C TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 1447 4 70823357 70823357 121 AML diagnosis snv C6 missense K309T NM_000065 20-PARMZF C6 MISSENSE SNP Somatic -2 0.080 SQHIGH 13 20 33 0 23 23 Cosmic_Gene T T G T T TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 729 5 41181462 41181462 35 AML diagnosis snv MAN2A1 missense I982M NM_002372 20-PARMZF MAN2A1 MISSENSE SNP Somatic 3 0.129 SQHIGH 18 27 45 0 20 20 Cosmic_Gene A A G A A TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 4124 5 109183461 109183461 35 AML diagnosis snv ZEB1 nonsense Q324* NM_001128128 20-PARMZF ZEB1 NONSENSE SNP Somatic 12 0.377 SQHIGH 24 31 55 0 64 64 Cosmic_Gene C C T C C TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 6935 10 31809281 31809281 95 AML diagnosis snv TMEM5 missense A128V NM_014254 20-PARMZF TMEM5 MISSENSE SNP Somatic 10 0.290 SQHIGH 12 16 28 0 21 21 C C T C C TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 10329 12 64178807 64178807 35 AML diagnosis snv STAB2 missense A1792P NM_017564 20-PARMZF STAB2 MISSENSE SNP Somatic PFAM:PF02469:Fasciclin -32 0.003 6 23 29 1 36 37 Cosmic_Gene G G C G G TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 55576 12 104126874 104126874 16 AML relapse snv FAM208A silent P1004P NM_001112736 20-PARNIA FAM208A SYNONYMOUS SNP Somatic -9 0.037 SQHIGH 4 18 22 0 32 32 T T C T T TARGET-20-PARNIA-04A-01D TARGET-20-PARNIA-14A-02D 23272 3 56667807 56667807 16 AML relapse snv TMEM147 missense A11P NM_032635 20-PARNIA LOC100506469|TMEM147 INTRON|UTR5,MISSENSE SNP Somatic PFAM:PF09767:DUF2053 -10 0.034 SQHIGH 6 17 23 0 25 25 G G C G G TARGET-20-PARNIA-04A-01D TARGET-20-PARNIA-14A-02D 100506469|10430 19 36036672 36036672 21 AML diagnosis mnv UBAP2 missense Q18T NM_018449 20-PARNIA UBAP2 MISSENSE Sub Somatic -25 0.054 4 30 34 0 42 42 Cosmic_Gene CTG CTG TGT CTG CTG TARGET-20-PARNIA-09A-03D TARGET-20-PARNIA-14A-02D 55833 9 34017093 34017095 14 AML diagnosis snv MACF1 missense R1999C NM_012090 20-PARNNT MACF1 MISSENSE SNP Somatic 6 0.201 SQHIGH 24 37 61 0 33 33 Cosmic_Gene C C T C C TARGET-20-PARNNT-09A-01D TARGET-20-PARNNT-10A-02D 23499 1 39824873 39824873 54 AML diagnosis snv TTN missense R1055C NM_133378 20-PARNNT TTN MISSENSE SNP Somatic 11 0.351 SQHIGH 18 29 47 1 53 54 Cosmic_Gene G G A G G TARGET-20-PARNNT-09A-01D TARGET-20-PARNNT-10A-02D 7273 2 179647267 179647267 58 AML diagnosis snv GPR176 silent S298S NM_007223 20-PARNNT GPR176 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 4 0.162 SQHIGH 16 20 36 0 35 35 Cosmic_Gene G G A G G TARGET-20-PARNNT-09A-01D TARGET-20-PARNNT-10A-02D 11245 15 40093987 40093987 56 AML diagnosis snv MYH4 nonsense R1293* NM_017533 20-PARNNT MYH4 NONSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 17 0.807 SQHIGH 13 23 36 0 42 42 Cosmic_Gene G G A G G TARGET-20-PARNNT-09A-01D TARGET-20-PARNNT-10A-02D 4622 17 10354201 10354201 50 AML diagnosis snv LONP1 missense P227A NM_004793 20-PARNNT LONP1 MISSENSE SNP Somatic -4 0.075 SQHIGH 7 21 28 0 24 24 G G C G G TARGET-20-PARNNT-09A-01D TARGET-20-PARNNT-10A-02D 9361 19 5711973 5711973 21 AML diagnosis snv YDJC silent L238L NM_001017964 20-PARNNT YDJC|CCDC116 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF04794:YdjC 3 0.148 SQHIGH 6 17 23 0 17 17 Cosmic_Gene C C T C C TARGET-20-PARNNT-09A-01D TARGET-20-PARNNT-10A-02D 150223|164592 22 21982965 21982965 16 AML diagnosis snv RSPH14 silent S189S NM_014433 20-PARNNT RSPH14 SYNONYMOUS SNP Somatic 11 0.351 SQHIGH 16 28 44 1 48 49 Cosmic_Gene G G A G G TARGET-20-PARNNT-09A-01D TARGET-20-PARNNT-10A-02D 27156 22 23406166 23406166 49 AML diagnosis snv GREB1 missense C1469S NM_014668 20-PARNZW GREB1 MISSENSE SNP Somatic -3 0.063 SQHIGH 5 33 38 0 33 33 Cosmic_Gene T T A T T TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 9687 2 11767186 11767186 14 AML diagnosis snv TCP1 missense G89E NM_030752 20-PARNZW TCP1|MRPL18|SNORA29 UTR5,MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic PFAM:PF00118:Cpn60_TCP1 -5 0.054 SQHIGH 7 37 44 1 44 45 Cosmic_Gene C C T C C TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 6950|29074|677812 6 160208788 160208788 16 AML diagnosis snv DPP7 missense E299V NM_013379 20-PARNZW DPP7 MISSENSE SNP Somatic PFAM:PF05577:Peptidase_S28 3 0.115 SQHIGH 10 41 51 0 29 29 T T A T T TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 29952 9 140007232 140007232 21 AML diagnosis snv BTBD18 missense P134T NM_001145101 20-PARNZW TMX2-CTNND1|BTBD18 INTRON|MISSENSE SNP Somatic -10 0.037 SQHIGH 12 55 67 2 44 46 G G T G G TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 100528016|643376 11 57513345 57513345 16 AML diagnosis snv KDM5A missense E1560K NM_001042603 20-PARNZW KDM5A MISSENSE SNP Somatic -7 0.047 SQHIGH 4 37 41 0 59 59 Cosmic_Gene C C T C C TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 5927 12 402113 402113 16 AML diagnosis snv CA5A missense T223S NM_001739 20-PARNZW CA5A MISSENSE SNP Somatic -1 0.076 SQHIGH 4 14 18 0 22 22 T T A T T TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 763 16 87925512 87925512 15 AML diagnosis snv CLUH missense R931W NM_015229 20-PARNZW CLUH MISSENSE SNP Somatic PFAM:PF12807:eIF3_p135 -24 0.008 3 14 17 0 34 34 Cosmic_Gene G G A G G TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 23277 17 2597803 2597803 15 AML diagnosis snv FKRP silent A487A NM_024301 20-PARNZW FKRP SYNONYMOUS SNP Somatic -2 0.069 SQHIGH 12 37 49 1 29 30 Cosmic_Gene A A C A A TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 79147 19 47260168 47260168 19 AML diagnosis snv RANGAP1 silent V490V NM_002883 20-PARNZW RANGAP1 SYNONYMOUS SNP Somatic PFAM:PF07834:RanGAP1_C -1 0.076 SQHIGH 25 94 119 4 94 98 C C T C C TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 5905 22 41647024 41647024 38 AML relapse snv RCBTB2 missense G76R NM_001268 20-PARNZW RCBTB2 MISSENSE SNP Somatic -1 0.080 SQHIGH 4 17 21 0 27 27 Cosmic_Gene C C G C C TARGET-20-PARNZW-40A-01D TARGET-20-PARNZW-14A-02D 1102 13 49089464 49089464 15 AML relapse snv RANGAP1 silent V490V NM_002883 20-PARNZW RANGAP1 SYNONYMOUS SNP Somatic PFAM:PF07834:RanGAP1_C -8 0.045 SQHIGH 10 63 73 4 94 98 C C T C C TARGET-20-PARNZW-40A-01D TARGET-20-PARNZW-14A-02D 5905 22 41647024 41647024 16 AML relapse snv COL12A1 missense G1984E NM_004370 20-PARPDS COL12A1 MISSENSE SNP Somatic 2 0.129 SQHIGH 11 46 57 0 58 58 Cosmic_Gene C C T C C TARGET-20-PARPDS-04A-01D TARGET-20-PARPDS-14A-02D 1303 6 75840684 75840684 36 AML relapse snv PRTN3 silent P8P NM_002777 20-PARPDS PRTN3 SYNONYMOUS SNP Somatic -10 0.043 SQHIGH 4 16 20 0 28 28 Cosmic_Gene T T A T T TARGET-20-PARPDS-04A-01D TARGET-20-PARPDS-14A-02D 5657 19 841032 841032 16 AML relapse snv FMR1NB missense R58Q NM_152578 20-PARPDS FMR1NB MISSENSE SNP Somatic 7 0.230 SQHIGH 6 7 13 0 18 18 Cosmic_Gene G G A G G TARGET-20-PARPDS-04A-01D TARGET-20-PARPDS-14A-02D 158521 X 147063095 147063095 26 AML diagnosis snv KIF14 nonsense R740* NM_014875 20-PARPDS KIF14 NONSENSE SNP Somatic -5 0.072 SQHIGH 4 20 24 0 36 36 Cosmic_Gene G G A G G TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 9928 1 200569566 200569566 17 AML diagnosis snv TADA3 missense A259D NM_006354 20-PARPDS TADA3 MISSENSE SNP Somatic 10 0.340 SQHIGH 16 28 44 0 33 33 G G T G G TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 10474 3 9828724 9828724 45 AML diagnosis snv ENAM missense A297T NM_031889 20-PARPDS ENAM MISSENSE SNP Somatic -2 0.094 SQHIGH 7 24 31 1 36 37 Cosmic_Gene G G A G G TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 10117 4 71508032 71508032 18 AML diagnosis snv F11 silent S42S NM_000128 20-PARPDS F11 SYNONYMOUS SNP Somatic 17 0.848 SQHIGH 14 23 37 0 39 39 C C T C C TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 2160 4 187192833 187192833 51 AML diagnosis snv TBC1D22B missense H439Y NM_017772 20-PARPDS TBC1D22B MISSENSE SNP Somatic PFAM:PF00566:TBC 7 0.243 SQHIGH 20 54 74 0 79 79 C C T C C TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 55633 6 37284908 37284908 70 AML diagnosis snv CEP85L missense I199V NM_001042475 20-PARPDS CEP85L MISSENSE SNP Somatic -3 0.085 SQHIGH 7 46 53 0 42 42 Cosmic_Gene T T C T T TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 387119 6 118887117 118887117 19 AML diagnosis snv CACNA1B silent L618L NM_000718 20-PARPDS CACNA1B SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans -4 0.079 SQHIGH 7 45 52 1 66 67 Cosmic_Gene C C T C C TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 774 9 140880947 140880947 19 AML diagnosis snv NCAM1 missense N678K NM_000615 20-PARPDS NCAM1 MISSENSE SNP Somatic PFAM:PF00041:fn3 8 0.270 SQHIGH 20 30 50 1 43 44 Cosmic_Gene C C A C C TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 4684 11 113130978 113130978 53 AML diagnosis snv MT1F silent A53A NM_005949 20-PARPDS MT1F SYNONYMOUS SNP dbsnp.134:rs147536970 Somatic 8 0.270 SQHIGH 12 19 31 0 31 31 G G A G G TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 4494 16 56693049 56693049 42 AML diagnosis snv ZFYVE28 missense G548S NM_020972 20-PARPPY ZFYVE28 MISSENSE SNP Somatic 11 0.441 SQHIGH 14 20 34 0 47 47 Cosmic_Gene C C T C C TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 57732 4 2306425 2306425 61 AML diagnosis snv SEMA5A silent I613I NM_003966 20-PARPPY SEMA5A SYNONYMOUS SNP Somatic 9 0.341 SQHIGH 13 28 41 0 45 45 Cosmic_Gene G G A G G TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 9037 5 9119196 9119196 47 AML diagnosis snv SDK1 missense Q877E NM_152744 20-PARPPY SDK1 MISSENSE SNP Somatic -6 0.062 SQHIGH 10 43 53 0 51 51 Cosmic_Gene C C G C C TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 221935 7 4089006 4089006 31 AML diagnosis snv PTPN3 silent S819S NM_002829 20-PARPPY PTPN3 SYNONYMOUS,UTR SNP dbsnp.134:rs140717531 Somatic -2 0.089 SQHIGH 11 18 29 1 47 48 Cosmic_Gene G G A G G TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 5774 9 112144653 112144653 43 AML diagnosis snv ANKFN1 silent L515L NM_153228 20-PARPPY ANKFN1 SYNONYMOUS SNP Somatic 4 0.176 SQHIGH 12 33 45 0 50 50 Cosmic_Gene C C T C C TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 162282 17 54535319 54535319 43 AML diagnosis snv DSG2 silent C637C NM_001943 20-PARPPY DSG2 SYNONYMOUS SNP Somatic -35 0.002 3 20 23 0 40 40 COSMIC:mut:79757 Cosmic_Gene C C T C C TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 1829 18 29121187 29121187 14 AML diagnosis snv CRX missense T155M NM_000554 20-PARPPY CRX MISSENSE SNP Somatic -6 0.062 SQHIGH 7 28 35 0 52 52 Cosmic_Gene C C T C C TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 1406 19 48342788 48342788 29 AML diagnosis snv ASXL1 nonsense R404* NM_015338 20-PARPPY ASXL1 NONSENSE SNP Somatic 2 0.140 SQHIGH 12 48 60 1 48 49 Cosmic_Gene C C T C C TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 171023 20 31021211 31021211 25 AML diagnosis snv RIPK4 missense Y98F NM_020639 20-PARPPY RIPK4 MISSENSE SNP Somatic 9 0.341 SQHIGH 8 22 30 1 26 27 Cosmic_Gene T T A T T TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 54101 21 43176866 43176866 17 AML diagnosis snv U2AF1 missense S34Y NM_006758 20-PARPPY U2AF1 UTR5,MISSENSE SNP Somatic PFAM:PF00642:zf-CCCH 12 0.505 SQHIGH 10 21 31 0 37 37 G G T G G TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 7307 21 44524456 44524456 38 AML relapse snv LOC101928372 EXON E6_exon NM_080878 20-PARPPY ITLN2 INTRON SNP Somatic -1 0.110 SQHIGH 7 29 36 1 40 41 Cosmic_Gene A A G A A TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 142683 1 160919019 160919019 18 AML relapse snv ZFYVE28 missense G548S NM_020972 20-PARPPY ZFYVE28 MISSENSE SNP Somatic 9 0.363 SQHIGH 14 32 46 0 47 47 Cosmic_Gene C C T C C TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 57732 4 2306425 2306425 48 AML relapse snv EVC missense E585G NM_153717 20-PARPPY EVC MISSENSE SNP Somatic 0 0.122 SQHIGH 10 34 44 2 57 59 Cosmic_Gene A A G A A TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 2121 4 5785469 5785469 25 AML relapse snv SEMA5A silent I613I NM_003966 20-PARPPY SEMA5A SYNONYMOUS SNP Somatic 10 0.412 SQHIGH 8 28 36 0 45 45 Cosmic_Gene G G A G G TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 9037 5 9119196 9119196 30 AML relapse snv PTPN3 silent S819S NM_002829 20-PARPPY PTPN3 SYNONYMOUS,UTR SNP dbsnp.134:rs140717531 Somatic -4 0.082 SQHIGH 11 37 48 1 47 48 Cosmic_Gene G G A G G TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 5774 9 112144653 112144653 27 AML relapse snv ANKRD11 missense R372G NM_013275 20-PARPPY ANKRD11 MISSENSE SNP Somatic -4 0.082 SQHIGH 9 60 69 0 60 60 Cosmic_Gene T T C T T TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 29123 16 89351836 89351836 26 AML relapse snv KRT37 silent A182A NM_003770 20-PARPPY KRT37 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament -39 0.000 5 11 16 1 28 29 Cosmic_Gene C C G C C TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 8688 17 39580043 39580043 18 AML relapse snv CRX missense T155M NM_000554 20-PARPPY CRX MISSENSE SNP Somatic -10 0.050 SQHIGH 6 28 34 0 52 52 Cosmic_Gene C C T C C TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 1406 19 48342788 48342788 25 AML relapse snv ASXL1 nonsense R404* NM_015338 20-PARPPY ASXL1 NONSENSE SNP Somatic 2 0.151 SQHIGH 10 32 42 1 48 49 Cosmic_Gene C C T C C TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 171023 20 31021211 31021211 28 AML relapse snv U2AF1 missense S34Y NM_006758 20-PARPPY U2AF1 UTR5,MISSENSE SNP Somatic PFAM:PF00642:zf-CCCH 7 0.284 SQHIGH 11 36 47 0 37 37 G G T G G TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 7307 21 44524456 44524456 30 AML diagnosis snv NBEAL1 missense V2406I NM_001114132 20-PARPWL NBEAL1 MISSENSE SNP Somatic -7 0.079 SQHIGH 4 16 20 0 31 31 Cosmic_Gene G G A G G TARGET-20-PARPWL-09A-02D TARGET-20-PARPWL-14A-01D 65065 2 204066330 204066330 17 AML diagnosis snv ANKRD13A nonsense W75* NM_033121 20-PARPWL ANKRD13A NONSENSE SNP Somatic PFAM:PF12796:Ank_2 11 0.419 SQHIGH 14 27 41 0 35 35 G G A G G TARGET-20-PARPWL-09A-02D TARGET-20-PARPWL-14A-01D 88455 12 110449937 110449937 43 AML diagnosis snv FLT3 missense V491L NM_004119 20-PARPWL FLT3 MISSENSE SNP Somatic 7 0.275 SQHIGH 20 32 52 0 59 59 Cosmic_Gene C C G C C TARGET-20-PARPWL-09A-02D TARGET-20-PARPWL-14A-01D 2322 13 28609758 28609758 76 AML diagnosis snv ERF missense G53R NM_006494 20-PARPWL ERF MISSENSE SNP Somatic PFAM:PF00178:Ets 14 0.603 SQHIGH 24 34 58 0 62 62 Cosmic_Gene C C G C C TARGET-20-PARPWL-09A-02D TARGET-20-PARPWL-14A-01D 2077 19 42754583 42754583 89 AML diagnosis snv CELSR1 missense V1134M NM_014246 20-PARPWL CELSR1 MISSENSE SNP Somatic -2 0.120 SQHIGH 14 43 57 0 32 32 Cosmic_Gene C C T C C TARGET-20-PARPWL-09A-02D TARGET-20-PARPWL-14A-01D 9620 22 46929668 46929668 30 AML relapse snv FREM2 silent Y2677Y NM_207361 20-PARSAN FREM2 SYNONYMOUS SNP Somatic -6 0.059 SQHIGH 4 26 30 0 32 32 Cosmic_Gene T T C T T TARGET-20-PARSAN-04B-01D TARGET-20-PARSAN-14A-02D 341640 13 39446926 39446926 13 AML diagnosis snv NPHP4 missense A1242G NM_015102 20-PARSAN NPHP4|MIR4689 MISSENSE|TSS-UPSTREAM SNP Somatic 3 0.141 SQHIGH 12 13 25 0 29 29 Cosmic_Gene G G C G G TARGET-20-PARSAN-09A-01D TARGET-20-PARSAN-14A-02D 261734|100616421 1 5925253 5925253 48 AML diagnosis snv KIAA1244 missense S721N NM_020340 20-PARSAN KIAA1244 MISSENSE SNP Somatic 7 0.226 SQHIGH 26 38 64 0 60 60 Cosmic_Gene G G A G G TARGET-20-PARSAN-09A-01D TARGET-20-PARSAN-14A-02D 57221 6 138599621 138599621 88 AML diagnosis snv ACTA2-AS1 EXON E6_exon NM_001141945 20-PARSAN ACTA2 INTRON SNP Somatic 10 0.324 SQHIGH 27 31 58 0 67 67 C C T C C TARGET-20-PARSAN-09A-01D TARGET-20-PARSAN-14A-02D 59 10 90699609 90699609 108 AML diagnosis snv ACTR1A silent I185I NM_005736 20-PARSAN ACTR1A SYNONYMOUS SNP Somatic 2 0.128 SQHIGH 11 9 20 0 24 24 Cosmic_Gene G G A G G TARGET-20-PARSAN-09A-01D TARGET-20-PARSAN-14A-02D 10121 10 104244019 104244019 47 AML diagnosis snv FREM2 missense A2091V NM_207361 20-PARSAN FREM2 MISSENSE SNP Somatic PFAM:PF03160:Calx-beta 4 0.155 SQHIGH 7 13 20 0 16 16 Cosmic_Gene C C T C C TARGET-20-PARSAN-09A-01D TARGET-20-PARSAN-14A-02D 341640 13 39422700 39422700 20 AML diagnosis snv SIN3A nonsense Q567* NM_001145358 20-PARSAN SIN3A NONSENSE SNP Somatic PFAM:PF08295:HDAC_interact 2 0.128 SQHIGH 17 15 32 0 17 17 Cosmic_Gene G G A G G TARGET-20-PARSAN-09A-01D TARGET-20-PARSAN-14A-02D 25942 15 75693109 75693109 41 AML diagnosis snv CDH16 missense A577V NM_004062 20-PARSAN CDH16 MISSENSE SNP dbsnp.132:rs112079388 Somatic PFAM:PF00028:Cadherin 3 0.141 SQHIGH 4 28 32 0 54 54 Cosmic_Gene G G A G G TARGET-20-PARSAN-09A-01D TARGET-20-PARSAN-14A-02D 1014 16 66945862 66945862 18 AML diagnosis snv ZNF606 missense L415R NM_025027 20-PARSAN ZNF606|C19orf18 MISSENSE|TSS-UPSTREAM SNP Somatic 12 0.421 SQHIGH 19 29 48 0 40 40 Cosmic_Gene A A C A A TARGET-20-PARSAN-09A-01D TARGET-20-PARSAN-14A-02D 80095|147685 19 58490804 58490804 59 AML diagnosis snv NRAS missense Q61K NM_002524 20-PARSHM NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 11 0.316 SQHIGH 9 16 25 0 33 33 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PARSHM-03A-02D TARGET-20-PARSHM-14A-01D 4893 1 115256530 115256530 37 AML diagnosis snv MCM9 missense Y463C NM_017696 20-PARSHM MCM9 MISSENSE SNP dbsnp.132:rs111567589 Somatic PFAM:PF00485:PRK -1 0.079 SQHIGH 5 35 40 0 37 37 Cosmic_Gene T T C T T TARGET-20-PARSHM-03A-02D TARGET-20-PARSHM-14A-01D 254394 6 119150351 119150351 15 AML diagnosis snv MCM9 missense Q462P NM_017696 20-PARSHM MCM9 MISSENSE SNP dbsnp.132:rs112847923 Somatic PFAM:PF00485:PRK 4 0.128 SQHIGH 5 30 35 0 43 43 Cosmic_Gene T T G T T TARGET-20-PARSHM-03A-02D TARGET-20-PARSHM-14A-01D 254394 6 119150354 119150354 18 AML diagnosis snv GANC missense T589A NM_198141 20-PARSHM GANC MISSENSE SNP Somatic -9 0.040 SQHIGH 5 25 30 0 36 36 Cosmic_Gene A A G A A TARGET-20-PARSHM-03A-02D TARGET-20-PARSHM-14A-01D 2595 15 42630610 42630610 18 AML diagnosis snv CACNA1A missense E1926A NM_001127221 20-PARSHM CACNA1A MISSENSE SNP Somatic -7 0.048 SQHIGH 8 19 27 1 30 31 Cosmic_Gene T T G T T TARGET-20-PARSHM-03A-02D TARGET-20-PARSHM-14A-01D 773 19 13325380 13325380 22 AML relapse snv CTSO splice_region A82_E2splice_region NM_001334 20-PARSHM CTSO INTRON SNP Somatic -7 0.049 SQHIGH 3 17 20 0 35 35 G G A G G TARGET-20-PARSHM-04A-01D TARGET-20-PARSHM-14A-01D 1519 4 156864299 156864299 14 AML relapse snv BASP1 missense E86G NM_006317 20-PARSHM BASP1 MISSENSE SNP Somatic -9 0.042 SQHIGH 4 16 20 0 22 22 A A G A A TARGET-20-PARSHM-04A-01D TARGET-20-PARSHM-14A-01D 10409 5 17275582 17275582 14 AML relapse snv TRHDE missense R1005C NM_013381 20-PARSHM TRHDE MISSENSE SNP Somatic -7 0.049 SQHIGH 5 22 27 0 37 37 Cosmic_Gene C C T C C TARGET-20-PARSHM-04A-01D TARGET-20-PARSHM-14A-01D 29953 12 73056913 73056913 20 AML relapse snv RNF40 missense A596G NM_014771 20-PARSHM RNF40 MISSENSE SNP Somatic -39 0.000 5 20 25 0 41 41 Cosmic_Gene C C G C C TARGET-20-PARSHM-04A-01D TARGET-20-PARSHM-14A-01D 9810 16 30779659 30779659 22 AML relapse snv TMEM206 missense R180Q NM_018252 20-PARTAL TMEM206 MISSENSE SNP Somatic -9 0.053 SQHIGH 14 99 113 0 104 104 Cosmic_Gene C C T C C TARGET-20-PARTAL-04A-02D TARGET-20-PARTAL-14A-02D 55248 1 212553336 212553336 41 AML relapse snv ZNF277 missense I81T NM_021994 20-PARTAL ZNF277 MISSENSE SNP Somatic -1 0.107 SQHIGH 8 32 40 0 40 40 Cosmic_Gene T T C T T TARGET-20-PARTAL-04A-02D TARGET-20-PARTAL-14A-02D 11179 7 111927078 111927078 26 AML relapse snv NOBOX splice_region G592_E10splice_region NM_001080413 20-PARTAL NOBOX ACCEPTOR SNP Somatic -5 0.074 SQHIGH 14 64 78 0 65 65 Cosmic_Gene C C T C C TARGET-20-PARTAL-04A-02D TARGET-20-PARTAL-14A-02D 135935 7 144094644 144094644 39 AML relapse snv PLCB1 silent Q1013Q NM_015192 20-PARTAL PLCB1 SYNONYMOUS SNP dbsnp.134:rs139859188 Somatic -29 0.006 6 15 21 0 24 24 Cosmic_Gene G G A G G TARGET-20-PARTAL-04A-02D TARGET-20-PARTAL-14A-02D 23236 20 8755294 8755294 22 AML relapse snv FAM155B missense P164T NM_015686 20-PARTAL FAM155B MISSENSE SNP Somatic -4 0.081 SQHIGH 5 22 27 0 38 38 Cosmic_Gene C C A C C TARGET-20-PARTAL-04A-02D TARGET-20-PARTAL-14A-02D 27112 X 68725615 68725615 20 AML diagnosis snv DNAJB11 splice E152D NM_016306 20-PARTAL DNAJB11 MISSENSE SNP Somatic -8 0.056 SQHIGH 5 30 35 0 34 34 Cosmic_Gene A A C A A TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 51726 3 186295589 186295589 15 AML diagnosis snv ZNF277 missense I81T NM_021994 20-PARTAL ZNF277 MISSENSE SNP Somatic 13 0.558 SQHIGH 15 33 48 0 40 40 Cosmic_Gene T T C T T TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 11179 7 111927078 111927078 45 AML diagnosis snv NOBOX splice_region G592_E10splice_region NM_001080413 20-PARTAL NOBOX ACCEPTOR SNP Somatic 5 0.201 SQHIGH 31 37 68 0 65 65 Cosmic_Gene C C T C C TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 135935 7 144094644 144094644 109 AML diagnosis snv KRAS missense G12V NM_033360 20-PARTAL KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 8 0.302 SQHIGH 10 24 34 0 25 25 COSMIC:mut:520 Cosmic_Gene C C A C C TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 3845 12 25398284 25398284 27 AML diagnosis snv AKAP6 missense R1721C NM_004274 20-PARTAL AKAP6 MISSENSE SNP Somatic 13 0.558 SQHIGH 32 35 67 1 73 74 Cosmic_Gene C C T C C TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 9472 14 33292180 33292180 112 AML diagnosis snv PPP4R4 missense R558C NM_058237 20-PARTAL PPP4R4 MISSENSE SNP dbsnp.134:rs138045284 Somatic 15 0.735 SQHIGH 9 19 28 0 30 30 Cosmic_Gene C C T C C TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 57718 14 94716569 94716569 32 AML diagnosis snv FAM155B missense P164T NM_015686 20-PARTAL FAM155B MISSENSE SNP Somatic -4 0.079 SQHIGH 7 23 30 0 38 38 Cosmic_Gene C C A C C TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 27112 X 68725615 68725615 27 AML diagnosis snv ATRX silent L2112L NM_000489 20-PARTAL ATRX SYNONYMOUS SNP Somatic -3 0.085 SQHIGH 7 5 12 0 10 10 Cosmic_Gene A A G A A TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 546 X 76814310 76814310 23 AML relapse snv PRPF38B missense S473I NM_018061 20-PARUBT PRPF38B MISSENSE,UTR SNP Somatic -5 0.064 SQHIGH 7 72 79 1 83 84 G G T G G TARGET-20-PARUBT-04A-01D TARGET-20-PARUBT-14A-02D 55119 1 109242419 109242419 16 AML relapse snv SCN3A missense L1861F NM_006922 20-PARUBT SCN3A MISSENSE SNP dbsnp.134:rs146618194 Somatic -7 0.055 SQHIGH 8 40 48 0 63 63 Cosmic_Gene C C A C C TARGET-20-PARUBT-04A-01D TARGET-20-PARUBT-14A-02D 6328 2 165947080 165947080 31 AML relapse snv FRYL missense I2918M NM_015030 20-PARUBT FRYL MISSENSE SNP Somatic -1 0.092 SQHIGH 7 33 40 0 43 43 Cosmic_Gene T T C T T TARGET-20-PARUBT-04A-01D TARGET-20-PARUBT-14A-02D 285527 4 48502076 48502076 23 AML relapse snv TMEM132D missense R142W NM_133448 20-PARUBT TMEM132D MISSENSE SNP Somatic 5 0.164 SQHIGH 12 43 55 1 59 60 Cosmic_Gene G G A G G TARGET-20-PARUBT-04A-01D TARGET-20-PARUBT-14A-02D 121256 12 130184899 130184899 32 AML relapse snv ADORA2B missense R293W NM_000676 20-PARUBT ADORA2B|LOC100652851 MISSENSE|UTR5 SNP dbsnp.134:rs138464210 Somatic PFAM:PF10320:7TM_GPCR_Srsx 6 0.191 SQHIGH 19 43 62 0 47 47 Cosmic_Gene C C T C C TARGET-20-PARUBT-04A-01D TARGET-20-PARUBT-14A-02D 136|100652851 17 15878534 15878534 53 AML relapse snv TBX2 missense T528P NM_005994 20-PARUBT LOC645722|TBX2 INTRON|MISSENSE SNP Somatic -6 0.060 SQHIGH 7 20 27 0 29 29 A A C A A TARGET-20-PARUBT-04A-01D TARGET-20-PARUBT-14A-02D 645722|6909 17 59483093 59483093 24 AML relapse snv KLC3 missense R170G NM_177417 20-PARUBT KLC3 MISSENSE SNP Somatic PFAM:PF09311:Rab5-bind -6 0.060 SQHIGH 4 11 15 0 17 17 Cosmic_Gene C C G C C TARGET-20-PARUBT-04A-01D TARGET-20-PARUBT-14A-02D 147700 19 45850723 45850723 14 AML diagnosis snv MECR silent R11R NM_016011 20-PARUBT MECR SYNONYMOUS,UTR5 SNP Somatic -7 0.062 SQHIGH 9 36 45 0 36 36 Cosmic_Gene T T C T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 51102 1 29557386 29557386 25 AML diagnosis snv MAST2 missense T1640S NM_015112 20-PARUBT MAST2 MISSENSE SNP Somatic -8 0.057 SQHIGH 8 35 43 0 40 40 Cosmic_Gene A A T A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 23139 1 46501259 46501259 24 AML diagnosis snv KRTCAP2 missense L35P NM_173852 20-PARUBT KRTCAP2|TRIM46 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF09775:Keratin_assoc 2 0.130 SQHIGH 24 43 67 1 34 35 Cosmic_Gene A A G A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 200185|80128 1 155145347 155145347 41 AML diagnosis snv RTN4 silent L590L NM_020532 20-PARUBT RTN4 SYNONYMOUS,INTRON SNP Somatic -1 0.100 SQHIGH 6 33 39 0 48 48 Cosmic_Gene G G A G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 57142 2 55253465 55253465 22 AML diagnosis snv FER1L5 silent Q993Q NM_001293083 20-PARUBT FER1L5 SYNONYMOUS SNP Somatic -6 0.067 SQHIGH 11 59 70 0 37 37 Cosmic_Gene G G A G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 90342 2 97357253 97357253 22 AML diagnosis snv BIN1 missense Q540E NM_139343 20-PARUBT BIN1 MISSENSE SNP Somatic -38 0.001 3 15 18 0 53 53 Cosmic_Gene G G C G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 274 2 127808053 127808053 18 AML diagnosis snv SLC19A3 missense S239R NM_025243 20-PARUBT SLC19A3 MISSENSE SNP Somatic PFAM:PF01770:Folate_carrier 1 0.119 SQHIGH 11 67 78 0 41 41 Cosmic_Gene G G C G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 80704 2 228563714 228563714 21 AML diagnosis snv ASB1 missense H31L NM_001040445 20-PARUBT ASB1 MISSENSE SNP Somatic 1 0.119 SQHIGH 7 42 49 0 65 65 A A T A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 51665 2 239342237 239342237 27 AML diagnosis snv ASB1 missense P32Q NM_001040445 20-PARUBT ASB1 MISSENSE SNP Somatic 3 0.143 SQHIGH 7 42 49 0 62 62 C C A C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 51665 2 239342240 239342240 26 AML diagnosis snv TRAK1 missense L896V NM_001042646 20-PARUBT TRAK1 MISSENSE SNP Somatic -6 0.067 SQHIGH 5 36 41 0 34 34 Cosmic_Gene C C G C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 22906 3 42265053 42265053 14 AML diagnosis snv ATR missense M946V NM_001184 20-PARUBT ATR MISSENSE SNP Somatic -10 0.049 SQHIGH 6 27 33 0 41 41 Cosmic_Gene T T C T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 545 3 142269114 142269114 22 AML diagnosis snv LETM1 silent L417L NM_012318 20-PARUBT LETM1 SYNONYMOUS SNP Somatic PFAM:PF07766:LETM1 -8 0.057 SQHIGH 5 36 41 0 36 36 Cosmic_Gene C C G C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 3954 4 1825452 1825452 14 AML diagnosis snv LETM1 missense I416T NM_012318 20-PARUBT LETM1 MISSENSE SNP Somatic PFAM:PF07766:LETM1 -8 0.057 SQHIGH 5 41 46 0 33 33 Cosmic_Gene A A G A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 3954 4 1825456 1825456 12 AML diagnosis snv FRYL missense I2918M NM_015030 20-PARUBT FRYL MISSENSE SNP Somatic 15 0.637 SQHIGH 8 15 23 0 43 43 Cosmic_Gene T T C T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 285527 4 48502076 48502076 41 AML diagnosis snv PDZD2 silent C1624C NM_178140 20-PARUBT PDZD2 SYNONYMOUS SNP Somatic -2 0.091 SQHIGH 5 40 45 0 53 53 Cosmic_Gene T T C T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 23037 5 32088426 32088426 17 AML diagnosis snv PDZD2 silent P1625P NM_178140 20-PARUBT PDZD2 SYNONYMOUS SNP Somatic -2 0.091 SQHIGH 5 42 47 0 52 52 Cosmic_Gene T T A T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 23037 5 32088429 32088429 17 AML diagnosis snv C6orf132 missense A542P NM_001164446 20-PARUBT C6orf132 MISSENSE SNP Somatic -1 0.100 SQHIGH 13 40 53 0 33 33 C C G C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 647024 6 42074026 42074026 30 AML diagnosis snv CEP162 splice E1_splice NM_014895 20-PARUBT CEP162 DISRUPT SNP Somatic -5 0.071 SQHIGH 18 152 170 2 71 73 Cosmic_Gene C C T C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 22832 6 84937297 84937297 15 AML diagnosis snv MDN1 missense Q4406E NM_014611 20-PARUBT MDN1 MISSENSE SNP Somatic -8 0.057 SQHIGH 6 26 32 0 18 18 Cosmic_Gene G G C G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 23195 6 90383854 90383854 12 AML diagnosis snv TCP1 missense G89E NM_030752 20-PARUBT TCP1|MRPL18|SNORA29 UTR5,MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic PFAM:PF00118:Cpn60_TCP1 4 0.156 SQHIGH 11 43 54 2 39 41 Cosmic_Gene C C T C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 6950|29074|677812 6 160208788 160208788 16 AML diagnosis snv TNFRSF10B missense P63A NM_003842 20-PARUBT TNFRSF10B INTRON,MISSENSE SNP Somatic -8 0.057 SQHIGH 6 25 31 0 28 28 G G C G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 8795 8 22900714 22900714 18 AML diagnosis snv TRPS1 missense Q980E NM_014112 20-PARUBT TRPS1 MISSENSE SNP Somatic 13 0.456 SQHIGH 15 20 35 1 28 29 Cosmic_Gene G G C G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 7227 8 116427198 116427198 37 AML diagnosis snv SLC44A1 missense D564G NM_080546 20-PARUBT SLC44A1 MISSENSE SNP Somatic PFAM:PF04515:Choline_transpo -10 0.049 SQHIGH 7 29 36 0 17 17 Cosmic_Gene A A G A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 23446 9 108145462 108145462 13 AML diagnosis snv OR1J1 missense F31Y NM_001004451 20-PARUBT OR1J1 MISSENSE SNP Somatic 16 0.709 SQHIGH 9 30 39 0 25 25 Cosmic_Gene A A T A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 347168 9 125240114 125240114 21 AML diagnosis snv HSPA5 silent V415V NM_005347 20-PARUBT HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -1 0.100 SQHIGH 14 47 61 2 62 64 Cosmic_Gene T T G T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 3309 9 128000577 128000577 31 AML diagnosis snv EXD3 splice_region M499_E15splice_region NM_017820 20-PARUBT EXD3 ACCEPTOR SNP Somatic -10 0.049 SQHIGH 7 28 35 0 30 30 A A C A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 54932 9 140243990 140243990 20 AML diagnosis snv QSER1 silent G746G NM_001076786 20-PARUBT QSER1 SYNONYMOUS SNP dbsnp.134:rs147255191 Somatic 7 0.221 SQHIGH 7 26 33 1 34 35 Cosmic_Gene T T C T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 79832 11 32955429 32955429 17 AML diagnosis snv LOC101927583 EXON E1_exon NM_133489 20-PARUBT SLC26A10 INTRON SNP Somatic -6 0.067 SQHIGH 8 40 48 0 50 50 Cosmic_Gene C C T C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 65012 12 58014524 58014524 26 AML diagnosis snv LHX5 silent L21L NM_022363 20-PARUBT LOC100506452|LHX5 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -5 0.071 SQHIGH 9 20 29 0 18 18 C C A C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 100506452|64211 12 113909241 113909241 21 AML diagnosis snv LHX5 missense V20A NM_022363 20-PARUBT LOC100506452|LHX5 TSS-UPSTREAM|MISSENSE SNP Somatic -6 0.067 SQHIGH 9 18 27 0 17 17 A A G A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 100506452|64211 12 113909245 113909245 22 AML diagnosis snv MAPK8IP3 missense A1228P NM_015133 20-PARUBT MAPK8IP3|EME2 MISSENSE|TSS-UPSTREAM SNP Somatic -2 0.091 SQHIGH 7 35 42 0 29 29 Cosmic_Gene G G C G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 23162|197342 16 1818322 1818322 17 AML diagnosis snv ZNF19 splice_region D92_E5splice_region NM_006961 20-PARUBT ZNF19 DONOR SNP Somatic 7 0.221 SQHIGH 19 33 52 1 47 48 A A G A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 7567 16 71512125 71512125 52 AML diagnosis snv ADORA2B missense R293W NM_000676 20-PARUBT ADORA2B|LOC100652851 MISSENSE|UTR5 SNP dbsnp.134:rs138464210 Somatic PFAM:PF10320:7TM_GPCR_Srsx 9 0.276 SQHIGH 28 38 66 0 47 47 Cosmic_Gene C C T C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 136|100652851 17 15878534 15878534 79 AML diagnosis snv PLCG1 missense Q256H NM_002660 20-PARUBT PLCG1 MISSENSE SNP Somatic 0 0.109 SQHIGH 8 33 41 1 32 33 Cosmic_Gene G G C G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 5335 20 39791894 39791894 15 AML diagnosis snv KLHL22 missense P323S NM_032775 20-PARUBT KLHL22 MISSENSE,UTR SNP Somatic 13 0.456 SQHIGH 16 27 43 0 64 64 Cosmic_Gene G G A G G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 84861 22 20819290 20819290 72 AML diagnosis snv SLC7A4 missense H167P NM_004173 20-PARUBT SLC7A4 MISSENSE SNP Somatic PFAM:PF01490:Aa_trans 5 0.172 SQHIGH 10 37 47 1 29 30 Cosmic_Gene T T G T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 6545 22 21385602 21385602 16 AML diagnosis snv BEND2 missense A547T NM_153346 20-PARUBT BEND2 MISSENSE SNP Somatic PFAM:PF10523:BEN 3 0.143 SQHIGH 6 8 14 0 17 17 Cosmic_Gene C C T C C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 139105 X 18194205 18194205 24 AML diagnosis mnv CHD5 missense V1776S NM_015557 20-PARUBT CHD5 MISSENSE Sub Somatic PFAM:PF08074:CHDCT2 2 0.799 SQHIGH 8 28 36 0 24 24 Cosmic_Gene AC AC CT AC AC TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 26038 1 6170509 6170510 19 AML diagnosis complex NES frameshift E609_A610fs NM_006617 20-PARUBT NES FRAMESHIFT Sub Somatic -9 0.331 SQHIGH 15 84 99 2 62 64 Cosmic_Gene GCC GCC GT GCC GCC TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 10763 1 156642151 156642153 20 AML diagnosis mnv MANBA missense Q145_S146>HA NM_005908 20-PARUBT MANBA MISSENSE Sub Somatic -3 0.491 SQHIGH 10 31 41 0 41 41 Cosmic_Gene AC AC CA AC AC TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 4126 4 103644141 103644142 33 AML diagnosis mnv PTCD2 missense M372_V373>IF NM_024754 20-PARUBT PTCD2 MISSENSE Sub Somatic -5 0.416 SQHIGH 13 59 72 2 58 60 GG GG CT GG GG TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 79810 5 71654203 71654204 22 AML diagnosis complex SCGN frameshift A72fs NM_006998 20-PARUBT SCGN FRAMESHIFT Sub Somatic -9 0.331 SQHIGH 15 51 66 1 27 28 Cosmic_Gene GCC GCC GG GCC GCC TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 10590 6 25661840 25661842 17 AML diagnosis mnv PARK2 missense P345R NM_004562 20-PARUBT PARK2 MISSENSE Sub Somatic PFAM:PF01485:IBR 1 0.706 SQHIGH 8 22 30 0 26 26 Cosmic_Gene AG AG CC AG AG TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 5071 6 161969934 161969935 24 AML diagnosis mnv PUS7 missense V359_Q360>AG NM_019042 20-PARUBT PUS7 MISSENSE Sub Somatic -5 0.416 SQHIGH 12 39 51 1 54 55 Cosmic_Gene CTGTA CTGTA TCCTG CTGTA CTGTA TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 54517 7 105121594 105121598 32 AML diagnosis mnv RBM12B-AS1 EXON E1_exon NM_203390 20-PARUBT C8orf39|RBM12B UTR|INTRON Sub Somatic -5 0.416 SQHIGH 5 21 26 0 49 49 GG GG CC GG GG TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 55472|389677 8 94752668 94752669 24 AML diagnosis mnv ZNF251 missense R304_S305>LN NM_138367 20-PARUBT ZNF251 MISSENSE Sub Somatic -10 0.316 SQHIGH 12 72 84 2 83 85 CTTC CTTC TTCA CTTC CTTC TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 90987 8 145948131 145948134 23 AML diagnosis mnv MYBPC3 missense M518K NM_000256 20-PARUBT MYBPC3 MISSENSE Sub Somatic PFAM:PF00047:ig -10 0.316 SQHIGH 17 79 96 0 78 78 Cosmic_Gene CA CA TT CA CA TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 4607 11 47364199 47364200 47 AML diagnosis mnv NUDT22 missense L303_*304>AL NM_032344 20-PARUBT TRPT1|DNAJC4|NUDT22|LOC100653007|VEGFB TSS-UPSTREAM|TSS-UPSTREAM|NONSTOP|INTRON|TSS-UPSTREAM Sub Somatic -7 0.368 SQHIGH 15 81 96 1 78 79 CTCTG CTCTG GCCCT CTCTG CTCTG TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 83707|3338|84304|100653007|7423 11 63997457 63997461 32 AML diagnosis mnv WNK1 missense R1945_F1946>VP NM_018979 20-PARUBT WNK1 MISSENSE Sub Somatic -24 0.119 4 39 43 0 57 57 Cosmic_Gene CGTTT CGTTT GTGCC CGTTT CGTTT TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 65125 12 1005486 1005490 15 AML diagnosis mnv STAT6 missense L794_L795>PM NM_003153 20-PARUBT STAT6 MISSENSE,UTR Sub Somatic -9 0.331 SQHIGH 8 32 40 0 39 39 Cosmic_Gene GCA GCA TAG GCA GCA TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 6778 12 57490516 57490518 25 AML diagnosis mnv MLH3 missense T1132_V1133>RF NM_001040108 20-PARUBT MLH3 MISSENSE Sub Somatic -8 0.349 SQHIGH 9 56 65 1 57 58 Cosmic_Gene CAG CAG ATC CAG CAG TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 27030 14 75508386 75508388 19 AML diagnosis mnv HDGFRP3 missense A41V NM_016073 20-PARUBT HDGFRP3 MISSENSE Sub Somatic -2 0.539 SQHIGH 11 20 31 1 32 33 TG TG AA TG TG TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 50810 15 83832789 83832790 30 AML diagnosis mnv ZNF207 missense Q293_A294>RP NM_003457 20-PARUBT ZNF207 MISSENSE Sub Somatic -7 0.368 SQHIGH 9 45 54 0 44 44 AGG AGG GAC AGG AGG TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 7756 17 30694795 30694797 25 AML diagnosis mnv CACNG2 missense T283_P284>TA NM_006078 20-PARUBT CACNG2 MISSENSE Sub Somatic -7 0.368 SQHIGH 5 23 28 0 23 23 GC GC CG GC GC TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 10369 22 36960520 36960521 14 AML diagnosis complex TXLNG frameshift R236fs NM_018360 20-PARUBT TXLNG FRAMESHIFT Sub Somatic PFAM:PF09728:Taxilin -4 0.452 SQHIGH 13 48 61 1 43 44 Cosmic_Gene ACG ACG AGCA ACG ACG TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 55787 X 16847734 16847736 25 AML diagnosis mnv OPHN1 missense L662_E663>FW NM_002547 20-PARUBT OPHN1 MISSENSE Sub Somatic -7 0.368 SQHIGH 13 50 63 0 45 45 Cosmic_Gene TCC TCC CAA TCC TCC TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 4983 X 67283866 67283868 33 AML diagnosis snv NRAS missense Q61K NM_002524 20-PARUDL NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 8 0.264 SQHIGH 11 20 31 0 30 30 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PARUDL-09A-01D TARGET-20-PARUDL-14A-01D 4893 1 115256530 115256530 37 AML diagnosis snv CAMK1G missense A70S NM_020439 20-PARUDL CAMK1G MISSENSE SNP Somatic 8 0.264 SQHIGH 13 32 45 0 35 35 Cosmic_Gene G G T G G TARGET-20-PARUDL-09A-01D TARGET-20-PARUDL-14A-01D 57172 1 209773443 209773443 36 AML diagnosis snv ATXN7L1 missense P9L NM_020725 20-PARUDL LOC100652903|ATXN7L1 TSS-UPSTREAM|MISSENSE SNP Somatic -6 0.057 SQHIGH 12 11 23 0 10 10 G G A G G TARGET-20-PARUDL-09A-01D TARGET-20-PARUDL-14A-01D 100652903|222255 7 105516979 105516979 24 AML diagnosis snv LOC100128593 EXON E1_exon NM_198946 20-PARUDL LCN6|LCN10|LOC100128593 INTRON|TSS-UPSTREAM|UTR SNP Somatic -3 0.073 SQHIGH 9 32 41 2 39 41 Cosmic_Gene T T C T T TARGET-20-PARUDL-09A-01D TARGET-20-PARUDL-14A-01D 158062|414332|100128593 9 139642380 139642380 16 AML diagnosis mnv C7orf43 missense L490_S491>PA NM_018275 20-PARUDL C7orf43 MISSENSE Sub Somatic -10 0.225 SQHIGH 10 44 54 1 30 31 AGA AGA CCG AGA AGA TARGET-20-PARUDL-09A-01D TARGET-20-PARUDL-14A-01D 55262 7 99753003 99753005 14 AML relapse snv C1orf141 missense A288V NM_001276351 20-PARUNX C1orf141 MISSENSE SNP Somatic -8 0.069 SQHIGH 5 13 18 0 17 17 Cosmic_Gene G G A G G TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 400757 1 67559028 67559028 16 AML relapse snv ITGA2 missense G606R NM_002203 20-PARUNX ITGA2 MISSENSE SNP Somatic 11 0.425 SQHIGH 8 12 20 0 22 22 Cosmic_Gene G G C G G TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 3673 5 52361680 52361680 30 AML relapse snv CSMD3 missense S2606R NM_198123 20-PARUNX CSMD3 MISSENSE SNP Somatic PFAM:PF00084:Sushi -3 0.105 SQHIGH 4 19 23 0 24 24 Cosmic_Gene G G T G G TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 114788 8 113323274 113323274 13 AML relapse snv C11orf49 missense P113S NM_001003676 20-PARUNX C11orf49 MISSENSE SNP Somatic -4 0.097 SQHIGH 5 44 49 0 45 45 C C T C C TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 79096 11 47159252 47159252 15 AML relapse snv PRSS23 missense Q409E NM_007173 20-PARUNX PRSS23 MISSENSE SNP Somatic -1 0.128 SQHIGH 4 19 23 0 26 26 Cosmic_Gene C C G C C TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 11098 11 86519667 86519667 14 AML relapse snv CDCA3 splice_region G218_E6splice_region NM_031299 20-PARUNX CDCA3|USP5 ACCEPTOR|TSS-UPSTREAM SNP Somatic 15 0.679 SQHIGH 46 36 82 0 53 53 Cosmic_Gene C C T C C TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 83461|8078 12 6958370 6958370 131 AML relapse snv MUC16 missense S9171L NM_024690 20-PARUNX MUC16 MISSENSE SNP Somatic 1 0.154 SQHIGH 36 87 123 0 86 86 Cosmic_Gene G G A G G TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 94025 19 9059934 9059934 94 AML relapse snv RASGRP4 missense M257V NM_170604 20-PARUNX RASGRP4 INTRON,MISSENSE SNP Somatic PFAM:PF00617:RasGEF 11 0.425 SQHIGH 16 32 48 0 49 49 Cosmic_Gene T T C T T TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 115727 19 38909099 38909099 55 AML relapse snv PSG9 silent D175D NM_002784 20-PARUNX PSG9 SYNONYMOUS SNP Somatic PFAM:PF00047:ig -6 0.082 SQHIGH 21 42 63 2 54 56 Cosmic_Gene G G A G G TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 5678 19 43766196 43766196 47 AML relapse snv CCDC114 missense R48Q NM_144577 20-PARUNX CCDC114 MISSENSE SNP Somatic -2 0.116 SQHIGH 11 33 44 0 34 34 Cosmic_Gene C C T C C TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 93233 19 48821750 48821750 30 AML relapse snv COL6A1 missense V176L NM_001848 20-PARUNX COL6A1 MISSENSE SNP Somatic 12 0.477 SQHIGH 18 24 42 0 57 57 Cosmic_Gene G G T G G TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 1291 21 47406537 47406537 79 AML relapse snv FRMPD4 silent D1153D NM_014728 20-PARUNX FRMPD4 SYNONYMOUS SNP Somatic 6 0.255 SQHIGH 25 39 64 0 72 72 Cosmic_Gene C C T C C TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 9758 X 12736404 12736404 95 AML relapse snv ATRX nonsense K307* NM_000489 20-PARUNX ATRX NONSENSE SNP Somatic 18 0.891 SQHIGH 13 24 37 1 44 45 Cosmic_Gene T T A T T TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 546 X 76939829 76939829 41 AML relapse snv POF1B missense Q484H NM_024921 20-PARUNX POF1B MISSENSE SNP Somatic 1 0.154 SQHIGH 9 10 19 0 17 17 C C G C C TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 79983 X 84559463 84559463 30 AML relapse snv MAGEA10 missense T44S NM_001011543 20-PARUNX MAGEA10|MAGEA10-MAGEA5 MISSENSE|INTRON SNP Somatic PFAM:PF12440:MAGE_N 5 0.224 SQHIGH 17 52 69 0 86 86 G G C G G TARGET-20-PARUNX-04A-01D TARGET-20-PARUNX-14A-02D 4109|100533997 X 151303962 151303962 65 AML diagnosis snv DLGAP3 missense Q846P NM_001080418 20-PARUNX DLGAP3 MISSENSE SNP Somatic PFAM:PF03359:GKAP 2 0.166 SQHIGH 10 48 58 2 77 79 Cosmic_Gene T T G T T TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 58512 1 35333177 35333177 25 AML diagnosis snv NRAS missense G13D NM_002524 20-PARUNX NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic -5 0.086 SQHIGH 12 52 64 0 46 46 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 4893 1 115258744 115258744 30 AML diagnosis snv NRAS missense G12D NM_002524 20-PARUNX NRAS MISSENSE SNP dbsnp.133:rs121913237 Somatic -6 0.080 SQHIGH 9 46 55 0 46 46 COSMIC:mut:564 Cosmic_Gene C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 4893 1 115258747 115258747 25 AML diagnosis snv PLB1 missense D588E NM_153021 20-PARUNX PLB1 MISSENSE SNP Somatic -6 0.080 SQHIGH 4 36 40 0 68 68 Cosmic_Gene T T A T T TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 151056 2 28808658 28808658 18 AML diagnosis snv COL7A1 silent A1204A NM_000094 20-PARUNX COL7A1 SYNONYMOUS SNP Somatic -6 0.080 SQHIGH 8 30 38 1 48 49 Cosmic_Gene C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 1294 3 48623618 48623618 23 AML diagnosis snv SOX14 silent A44A NM_004189 20-PARUNX SOX14 SYNONYMOUS SNP Somatic 12 0.474 SQHIGH 13 11 24 0 47 47 C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 8403 3 137483758 137483758 74 AML diagnosis snv HCN1 silent D880D NM_021072 20-PARUNX HCN1 SYNONYMOUS SNP Somatic 8 0.309 SQHIGH 8 8 16 0 25 25 Cosmic_Gene G G A G G TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 348980 5 45262056 45262056 39 AML diagnosis snv MYO6 missense R1035W NM_004999 20-PARUNX MYO6 MISSENSE SNP Somatic 1 0.151 SQHIGH 10 16 26 1 20 21 Cosmic_Gene C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 4646 6 76602403 76602403 22 AML diagnosis snv IKZF1 missense N159S NM_006060 20-PARUNX IKZF1 INTRON,TSS-UPSTREAM,MISSENSE SNP Somatic 5 0.221 SQHIGH 20 41 61 0 49 49 Cosmic_Gene A A G A A TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 10320 7 50450292 50450292 58 AML diagnosis snv ZBTB26 missense S108C NM_020924 20-PARUNX ZBTB26 MISSENSE SNP Somatic PFAM:PF00651:BTB -7 0.073 SQHIGH 5 26 31 0 24 24 T T A T T TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 57684 9 125681892 125681892 13 AML diagnosis snv KCNT1 missense S729C NM_020822 20-PARUNX KCNT1 MISSENSE SNP Somatic 4 0.201 SQHIGH 8 21 29 1 37 38 Cosmic_Gene A A T A A TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 57582 9 138664737 138664737 24 AML diagnosis snv DPP7 missense E299V NM_013379 20-PARUNX DPP7 MISSENSE SNP Somatic PFAM:PF05577:Peptidase_S28 6 0.252 SQHIGH 10 35 45 0 33 33 T T A T T TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 29952 9 140007232 140007232 26 AML diagnosis snv PRKCQ silent F406F NM_006257 20-PARUNX PRKCQ SYNONYMOUS SNP Somatic PFAM:PF03109:ABC1 -1 0.125 SQHIGH 13 30 43 0 61 61 COSMIC:mut:12897 Cosmic_Gene G G A G G TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 5588 10 6521089 6521089 55 AML diagnosis snv C11orf57 missense E291D NM_018195 20-PARUNX SDHD|C11orf57 TSS-UPSTREAM|MISSENSE SNP Somatic 2 0.166 SQHIGH 7 42 49 0 40 40 Cosmic_Gene G G C G G TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 6392|55216 11 111953687 111953687 19 AML diagnosis snv ATXN2 silent A1020A NM_002973 20-PARUNX ATXN2 SYNONYMOUS SNP Somatic -4 0.094 SQHIGH 4 15 19 0 20 20 Cosmic_Gene C C G C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 6311 12 111908485 111908485 13 AML diagnosis snv PTPN11 missense G503R NM_002834 20-PARUNX PTPN11 MISSENSE SNP Somatic -11 0.053 6 39 45 0 53 53 COSMIC:mut:14259 Cosmic_Gene G G A G G TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 5781 12 112926887 112926887 21 AML diagnosis snv AKAP6 missense R1721C NM_004274 20-PARUNX AKAP6 MISSENSE SNP Somatic 7 0.280 SQHIGH 26 28 54 1 43 44 Cosmic_Gene C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 9472 14 33292180 33292180 71 AML diagnosis snv LCMT1-AS2 EXON E4_exon NM_016309 20-PARUNX LOC100506655|LCMT1 UTR|INTRON SNP Somatic -1 0.125 SQHIGH 5 31 36 0 38 38 T T A T T TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 100506655|51451 16 25159096 25159096 16 AML diagnosis snv LOC101928446 EXON E1_exon NM_001257 20-PARUNX CDH13 INTRON SNP Somatic 12 0.474 SQHIGH 14 33 47 1 63 64 Cosmic_Gene T T C T T TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 1012 16 82859104 82859104 48 AML diagnosis snv CENPBD1 missense A111T NM_145039 20-PARUNX AFG3L1P|CENPBD1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03221:HTH_Tnp_Tc5 3 0.182 SQHIGH 33 42 75 1 41 42 C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 172|92806 16 90038000 90038000 66 AML diagnosis snv MGAT5B silent E448E NM_144677 20-PARUNX MGAT5B SYNONYMOUS SNP Somatic -7 0.073 SQHIGH 10 50 60 1 51 52 Cosmic_Gene G G A G G TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 146664 17 74928779 74928779 21 AML diagnosis snv MGAT5B silent T449T NM_144677 20-PARUNX MGAT5B SYNONYMOUS SNP Somatic 1 0.151 SQHIGH 10 42 52 1 51 52 Cosmic_Gene G G C G G TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 146664 17 74928782 74928782 24 AML diagnosis snv KIRREL2 silent S234S NM_032123 20-PARUNX KIRREL2 SYNONYMOUS SNP Somatic PFAM:PF00047:ig 1 0.151 SQHIGH 15 50 65 0 55 55 Cosmic_Gene G G A G G TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 84063 19 36351227 36351227 44 AML diagnosis snv LRFN3 silent G123G NM_024509 20-PARUNX LRFN3 SYNONYMOUS SNP Somatic -8 0.067 SQHIGH 8 40 48 0 35 35 C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 79414 19 36430696 36430696 20 AML diagnosis snv COL6A1 missense V176L NM_001848 20-PARUNX COL6A1 MISSENSE SNP Somatic 12 0.474 SQHIGH 24 32 56 0 57 57 Cosmic_Gene G G T G G TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 1291 21 47406537 47406537 87 AML diagnosis snv LSS splice_region W370_E10splice_region NM_002340 20-PARUNX LSS INTRON SNP Somatic -5 0.086 SQHIGH 4 41 45 0 51 51 C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 4047 21 47633642 47633642 13 AML diagnosis snv FRMPD4 silent D1153D NM_014728 20-PARUNX FRMPD4 SYNONYMOUS SNP Somatic 14 0.608 SQHIGH 27 38 65 0 72 72 Cosmic_Gene C C T C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 9758 X 12736404 12736404 103 AML diagnosis snv POF1B missense Q484H NM_024921 20-PARUNX POF1B MISSENSE SNP Somatic -1 0.125 SQHIGH 4 10 14 0 17 17 C C G C C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 79983 X 84559463 84559463 15 AML diagnosis snv MAGEA10 missense T44S NM_001011543 20-PARUNX MAGEA10|MAGEA10-MAGEA5 MISSENSE|INTRON SNP Somatic PFAM:PF12440:MAGE_N 8 0.309 SQHIGH 13 36 49 0 86 86 G G C G G TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 4109|100533997 X 151303962 151303962 62 AML diagnosis mnv KCNT1 missense D730P NM_020822 20-PARUNX KCNT1 MISSENSE Sub Somatic -10 0.298 SQHIGH 9 25 34 2 45 47 Cosmic_Gene GA GA CC GA GA TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 57582 9 138664740 138664741 23 AML diagnosis mnv ALKBH8 missense P458R NM_138775 20-PARUNX ALKBH8 MISSENSE Sub Somatic -10 0.298 SQHIGH 6 43 49 0 42 42 TG TG CC TG TG TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 91801 11 107381676 107381677 17 AML diagnosis mnv ATXN2 missense P1019R NM_002973 20-PARUNX ATXN2 MISSENSE Sub Somatic -7 0.352 SQHIGH 4 17 21 0 32 32 Cosmic_Gene TG TG CC TG TG TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 6311 12 111908488 111908489 17 AML relapse snv NRAS missense Q61K NM_002524 20-PARUTH NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic -2 0.105 SQHIGH 5 32 37 0 33 33 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 4893 1 115256530 115256530 14 AML relapse snv PPIL6 missense E111K NM_173672 20-PARUTH PPIL6 MISSENSE SNP Somatic 4 0.209 SQHIGH 8 29 37 0 38 38 C C T C C TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 285755 6 109752449 109752449 26 AML relapse snv LRP11 missense R312C NM_032832 20-PARUTH LRP11 MISSENSE SNP Somatic 0 0.136 SQHIGH 11 22 33 0 30 30 G G A G G TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 84918 6 150158579 150158579 35 AML relapse snv ANKRD13D missense S292I NM_207354 20-PARUTH SSH3|ANKRD13D TSS-UPSTREAM|MISSENSE,UTR SNP Somatic PFAM:PF11904:DUF3424 -3 0.094 SQHIGH 4 25 29 0 31 31 Cosmic_Gene G G T G G TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 54961|338692 11 67067077 67067077 13 AML relapse snv GRIA4 missense I48N NM_000829 20-PARUTH GRIA4 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor -3 0.094 SQHIGH 8 38 46 0 39 39 Cosmic_Gene T T A T T TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 2893 11 105483057 105483057 23 AML relapse snv RPL6 silent T189T NM_001024662 20-PARUTH RPL6 SYNONYMOUS SNP Somatic PFAM:PF01159:Ribosomal_L6e -9 0.052 SQHIGH 5 28 33 0 52 52 Cosmic_Gene T T C T T TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 6128 12 112843804 112843804 21 AML relapse snv PPM1D nonsense E472* NM_003620 20-PARUTH PPM1D NONSENSE SNP Somatic 0 0.136 SQHIGH 9 34 43 0 65 65 Cosmic_Gene G G T G G TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 8493 17 58740509 58740509 38 AML relapse snv LIPE silent A351A NM_005357 20-PARUTH LIPE SYNONYMOUS SNP Somatic PFAM:PF06350:HSL_N -9 0.052 SQHIGH 4 5 9 0 17 17 Cosmic_Gene G G C G G TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 3991 19 42914825 42914825 21 AML relapse mnv EBAG9 missense L178K NM_004215 20-PARUTH EBAG9 MISSENSE Sub Somatic PFAM:PF07946:DUF1682 -7 0.393 SQHIGH 3 19 22 0 43 43 CT CT AA CT CT TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 9166 8 110576678 110576679 15 AML relapse complex LY6K frameshift G145_G146fs NM_017527 20-PARUTH LY6K|LOC100288181 UTR3,FRAMESHIFT|UTR Sub Somatic -8 0.369 SQHIGH 11 35 46 0 16 16 Cosmic_Gene GGTGG GGTGG GAGA GGTGG GGTGG TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 54742|100288181 8 143784724 143784728 16 AML diagnosis snv GEM missense R172Q NM_005261 20-PARUTH GEM MISSENSE SNP Somatic -4 0.082 SQHIGH 11 56 67 0 46 46 Cosmic_Gene C C T C C TARGET-20-PARUTH-09A-01D TARGET-20-PARUTH-14A-01D 2669 8 95264345 95264345 27 AML diagnosis snv CYLC2 silent A331A NM_001340 20-PARUTH CYLC2 SYNONYMOUS SNP Somatic 8 0.446 SQHIGH 8 27 35 0 30 30 Cosmic_Gene A A C A A TARGET-20-PARUTH-09A-01D TARGET-20-PARUTH-14A-01D 1539 9 105767906 105767906 23 AML diagnosis snv CGNL1 silent G1146G NM_032866 20-PARUTH CGNL1 SYNONYMOUS SNP Somatic PFAM:PF01576:Myosin_tail_1 5 0.278 SQHIGH 20 63 83 0 46 46 Cosmic_Gene G G A G G TARGET-20-PARUTH-09A-01D TARGET-20-PARUTH-14A-01D 84952 15 57836733 57836733 42 AML diagnosis snv BNC1 missense E390K NM_001717 20-PARUTH BNC1 MISSENSE SNP Somatic -2 0.104 SQHIGH 16 74 90 0 45 45 Cosmic_Gene C C T C C TARGET-20-PARUTH-09A-01D TARGET-20-PARUTH-14A-01D 646 15 83932835 83932835 30 AML diagnosis snv FAM83C splice T171T NM_178468 20-PARUTH FAM83C SYNONYMOUS SNP Somatic PFAM:PF07894:DUF1669 0 0.136 SQHIGH 13 45 58 0 34 34 Cosmic_Gene C C T C C TARGET-20-PARUTH-09A-01D TARGET-20-PARUTH-14A-01D 128876 20 33879595 33879595 28 AML diagnosis snv EPHB1 missense R567W NM_004441 20-PARUUB EPHB1 MISSENSE SNP Somatic 16 0.645 SQHIGH 29 22 51 0 42 42 Cosmic_Gene C C T C C TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 2047 3 134885788 134885788 98 AML diagnosis snv ATP11B missense S717G NM_014616 20-PARUUB ATP11B MISSENSE SNP dbsnp.134:rs149368463 Somatic -7 0.060 SQHIGH 6 24 30 0 39 39 Cosmic_Gene A A G A A TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 23200 3 182591700 182591700 23 AML diagnosis snv AGXT2 silent L105L NM_031900 20-PARUUB AGXT2 SYNONYMOUS SNP Somatic 13 0.420 SQHIGH 21 21 43 0 48 48 Cosmic_Gene G G A G G TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 64902 5 35039478 35039478 85 AML diagnosis snv ZSCAN23 missense K350E NM_001012455 20-PARUUB ZSCAN23 MISSENSE SNP Somatic -7 0.060 SQHIGH 5 41 46 0 48 48 T T C T T TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 222696 6 28402364 28402364 16 AML diagnosis snv EZH2 splice_region K243_E7splice_region NM_001203247 20-PARUUB EZH2 DONOR SNP Somatic 0 0.108 SQHIGH 6 15 21 0 22 22 Cosmic_Gene C C A C C TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 2146 7 148524251 148524251 21 AML diagnosis snv PDE6C missense V570M NM_006204 20-PARUUB PDE6C MISSENSE SNP Somatic PFAM:PF00233:PDEase_I PFAM:PF07514:TraI_2 4 0.154 SQHIGH 9 28 37 1 38 39 Cosmic_Gene G G A G G TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 5146 10 95400285 95400285 23 AML diagnosis snv DPYSL4 silent L215L NM_006426 20-PARUUB DPYSL4 SYNONYMOUS SNP Somatic 18 0.841 SQHIGH 18 18 36 0 34 34 Cosmic_Gene C C T C C TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 10570 10 134011942 134011942 64 AML diagnosis snv RNMT silent S14S NM_003799 20-PARUUB RNMT|C18orf19 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 19 0.935 SQHIGH 17 20 37 0 38 38 Cosmic_Gene T T G T T TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 8731|125228 18 13731558 13731558 63 AML diagnosis snv SYNGR4 missense G73S NM_012451 20-PARUUB SYNGR4 MISSENSE SNP dbsnp.134:rs151247557 Somatic PFAM:PF01284:MARVEL 10 0.289 SQHIGH 15 26 41 0 42 42 G G A G G TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 23546 19 48876897 48876897 53 AML diagnosis snv LILRA5 missense G163D NM_021250 20-PARUUB LILRA5 MISSENSE SNP Somatic 16 0.645 SQHIGH 23 19 42 0 52 52 Cosmic_Gene C C T C C TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 353514 19 54822908 54822908 100 AML diagnosis complex NCOA2 proteinDel S816_L818>PV NM_006540 20-PARUUB NCOA2 DELETE+ Sub Somatic -2 0.466 SQHIGH 26 33 59 0 49 49 Cosmic_Gene AATTGACT AATTGACT ACCGG AATTGACT AATTGACT TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 10499 8 71060660 71060667 82 AML diagnosis mnv TGM5 missense P375_A376>VS NM_201631 20-PARUUB TGM5 MISSENSE Sub Somatic -6 0.331 SQHIGH 8 41 49 0 48 48 Cosmic_Gene CAGG CAGG AGAC CAGG CAGG TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 9333 15 43531234 43531237 25 AML diagnosis snv PRRC1 silent I252I NM_130809 20-PARUWX PRRC1 SYNONYMOUS SNP Somatic -4 0.086 SQHIGH 3 8 11 0 22 22 C C T C C TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 133619 5 126866087 126866087 15 AML diagnosis snv OPN5 missense A32V NM_181744 20-PARUWX OPN5 TSS-UPSTREAM,MISSENSE SNP Somatic 10 0.342 SQHIGH 9 22 31 1 49 50 Cosmic_Gene C C T C C TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 221391 6 47749897 47749897 33 AML diagnosis snv LGSN missense S198P NM_016571 20-PARUWX LGSN INTRON,MISSENSE SNP Somatic PFAM:PF00120:Gln-synt_C -7 0.069 SQHIGH 6 35 41 0 42 42 Cosmic_Gene A A G A A TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 51557 6 63990864 63990864 19 AML diagnosis snv HK1 silent D521D NM_000188 20-PARUWX HK1 SYNONYMOUS SNP dbsnp.134:rs145919021 Somatic PFAM:PF00349:Hexokinase_1 -2 0.102 SQHIGH 6 13 19 1 36 37 Cosmic_Gene C C T C C TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 3098 10 71142540 71142540 23 AML diagnosis snv SHOC2 missense K55M NM_007373 20-PARUWX SHOC2 MISSENSE SNP Somatic -2 0.102 SQHIGH 4 28 32 0 43 43 Cosmic_Gene A A T A A TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 8036 10 112724280 112724280 15 AML diagnosis snv USP10 missense Q55R NM_005153 20-PARUWX USP10 MISSENSE SNP Somatic -6 0.074 SQHIGH 9 47 56 0 51 51 A A G A A TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 9100 16 84778251 84778251 27 AML diagnosis snv KATNAL2 missense T435N NM_031303 20-PARUWX KATNAL2 MISSENSE SNP Somatic -10 0.054 SQHIGH 4 27 31 0 34 34 Cosmic_Gene C C A C C TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 83473 18 44627279 44627279 13 AML diagnosis snv AKAP17A silent R636R NM_005088 20-PARUWX ASMT|AKAP17A INTRON|SYNONYMOUS,UTR SNP Somatic -9 0.058 SQHIGH 6 25 31 0 29 29 Cosmic_Gene G G C G G TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 438|8227 X 1720307 1720307 18 AML diagnosis mnv PRRC1 splice K253_E5splice NM_130809 20-PARUWX PRRC1 DISRUPT Sub Somatic -8 0.277 SQHIGH 3 13 16 0 28 28 TA TA AC TA TA TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 133619 5 126866090 126866091 14 AML diagnosis snv SLC6A17 missense G698D NM_001010898 20-PARVAI SLC6A17 MISSENSE SNP Somatic 5 0.186 SQHIGH 25 37 62 2 69 71 Cosmic_Gene G G A G G TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 388662 1 110740975 110740975 75 AML diagnosis snv BRINP3 missense N314S NM_199051 20-PARVAI BRINP3 MISSENSE SNP Somatic -3 0.085 SQHIGH 5 5 10 0 12 12 Cosmic_Gene T T C T T TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 339479 1 190195232 190195232 20 AML diagnosis snv BROX splice_region G70_E4splice_region NM_144695 20-PARVAI BROX ACCEPTOR SNP Somatic 13 0.495 SQHIGH 14 16 30 0 31 31 A A C A A TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 148362 1 222892601 222892601 52 AML diagnosis snv ADRA1B missense G196R NM_000679 20-PARVAI ADRA1B MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 15 0.677 SQHIGH 27 27 54 0 69 69 Cosmic_Gene G G A G G TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 147 5 159344498 159344498 118 AML diagnosis snv SYK silent Q391Q NM_003177 20-PARVAI SYK SYNONYMOUS SNP Somatic 6 0.214 SQHIGH 25 37 62 0 74 74 Cosmic_Gene A A G A A TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 6850 9 93637123 93637123 100 AML diagnosis snv ACTL7B missense V79M NM_006686 20-PARVAI ACTL7B MISSENSE SNP Somatic 16 0.744 SQHIGH 33 28 61 1 60 61 Cosmic_Gene C C T C C TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 10880 9 111617976 111617976 112 AML diagnosis snv ARHGAP19-SLIT1 EXON E4_exon NM_003061 20-PARVAI ARHGAP19-SLIT1|SLIT1 UTR|INTRON SNP Somatic 11 0.384 SQHIGH 19 29 48 0 44 44 Cosmic_Gene C C T C C TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 100533184|6585 10 98912893 98912893 63 AML diagnosis snv OR5J2 silent D296D NM_001005492 20-PARVAI OR5J2 SYNONYMOUS SNP dbsnp.134:rs142214796 Somatic 2 0.138 SQHIGH 9 43 52 0 39 39 Cosmic_Gene C C T C C TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 282775 11 55944981 55944981 23 AML diagnosis snv MLXIP missense N608T NM_014938 20-PARVAI MLXIP MISSENSE SNP Somatic -3 0.085 SQHIGH 7 29 36 1 41 42 Cosmic_Gene A A C A A TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 22877 12 122619861 122619861 18 AML diagnosis snv PFAS missense C697G NM_012393 20-PARVAI PFAS MISSENSE SNP Somatic -8 0.056 SQHIGH 4 13 17 0 22 22 Cosmic_Gene T T G T T TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 5198 17 8168252 8168252 15 AML diagnosis snv DOT1L silent F1474F NM_032482 20-PARVAI DOT1L SYNONYMOUS SNP Somatic -7 0.062 SQHIGH 6 35 41 0 31 31 Cosmic_Gene C C T C C TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 84444 19 2226942 2226942 15 AML relapse snv NCKAP5 silent P929P NM_207363 20-PARWDZ NCKAP5 SYNONYMOUS,INTRON SNP Somatic -6 0.076 SQHIGH 7 72 79 0 65 65 A A G A A TARGET-20-PARWDZ-04A-02D TARGET-20-PARWDZ-14A-01D 344148 2 133541597 133541597 19 AML relapse snv TFAP2B silent P67P NM_003221 20-PARWDZ TFAP2B SYNONYMOUS SNP Somatic -3 0.097 SQHIGH 5 41 46 0 43 43 G G C G G TARGET-20-PARWDZ-04A-02D TARGET-20-PARWDZ-14A-01D 7021 6 50791239 50791239 15 AML relapse snv USP42 missense A927P NM_032172 20-PARWDZ USP42 MISSENSE SNP Somatic -6 0.076 SQHIGH 8 33 41 3 57 60 Cosmic_Gene G G C G G TARGET-20-PARWDZ-04A-02D TARGET-20-PARWDZ-14A-01D 84132 7 6193964 6193964 16 AML relapse snv DCAF5 splice S132_E3splice NM_003861 20-PARWDZ DCAF5 MISSENSE SNP Somatic PFAM:PF00400:WD40 -3 0.097 SQHIGH 4 9 13 0 26 26 Cosmic_Gene C C A C C TARGET-20-PARWDZ-04A-02D TARGET-20-PARWDZ-14A-01D 8816 14 69585911 69585911 21 AML relapse snv TTLL12 missense H320L NM_015140 20-PARWDZ TTLL12 MISSENSE SNP Somatic 3 0.169 SQHIGH 5 15 20 1 36 37 Cosmic_Gene T T A T T TARGET-20-PARWDZ-04A-02D TARGET-20-PARWDZ-14A-01D 23170 22 43570580 43570580 18 AML diagnosis snv SMARCC1 missense S295G NM_003074 20-PARWDZ SMARCC1 MISSENSE SNP Somatic -10 0.050 SQHIGH 6 27 33 1 40 41 Cosmic_Gene T T C T T TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 6599 3 47752208 47752208 16 AML diagnosis snv PLXNB1 silent A798A NM_002673 20-PARWDZ PLXNB1 SYNONYMOUS SNP Somatic -6 0.069 SQHIGH 4 15 19 0 20 20 Cosmic_Gene T T A T T TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 5364 3 48461301 48461301 13 AML diagnosis snv AQPEP silent S142S NM_173800 20-PARWDZ AQPEP SYNONYMOUS SNP Somatic -8 0.058 SQHIGH 6 7 13 0 16 16 T T C T T TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 206338 5 115298740 115298740 24 AML diagnosis snv LIMK1 missense N471K NM_002314 20-PARWDZ LIMK1 MISSENSE SNP Somatic PFAM:PF03109:ABC1 13 0.529 SQHIGH 31 36 67 0 76 76 Cosmic_Gene C C G C C TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 3984 7 73530134 73530134 123 AML diagnosis snv NCOR2 missense P1015R NM_006312 20-PARWDZ NCOR2 MISSENSE SNP Somatic -10 0.050 SQHIGH 3 11 14 0 25 25 Cosmic_Gene G G C G G TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 9612 12 124846728 124846728 14 AML diagnosis snv FLT3 missense A680V NM_004119 20-PARWDZ FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 11 0.412 SQHIGH 8 9 17 0 29 29 Cosmic_Gene G G A G G TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 2322 13 28602329 28602329 40 AML diagnosis snv KANSL1 silent T140T NM_015443 20-PARWDZ KANSL1 SYNONYMOUS SNP Somatic 4 0.177 SQHIGH 15 54 69 0 109 110 Cosmic_Gene G G C G G TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 284058 17 44249090 44249090 66 AML diagnosis snv RHBDF2 missense L144M NM_024599 20-PARWDZ RHBDF2 MISSENSE SNP Somatic PFAM:PF12595:Rhomboid_SP 0 0.119 SQHIGH 6 32 38 0 37 37 G G T G G TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 79651 17 74475289 74475289 19 AML diagnosis snv LOC727896 EXON E4_exon NM_014646 20-PARWDZ LPIN2|LOC727896 INTRON|UTR SNP Somatic 12 0.468 SQHIGH 17 32 49 1 76 77 Cosmic_Gene C C T C C TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 9663|727896 18 2946602 2946602 67 AML diagnosis snv NOVA2 silent Q481Q NM_002516 20-PARWDZ NOVA2 SYNONYMOUS SNP Somatic 13 0.529 SQHIGH 17 26 43 0 76 76 C C T C C TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 4858 19 46443157 46443157 86 AML diagnosis snv NBPF7 silent V324V NM_001047980 20-PARXMP NBPF7 SYNONYMOUS SNP Somatic PFAM:PF06758:DUF1220 -4 0.065 SQHIGH 4 33 37 0 47 47 Cosmic_Gene A A C A A TARGET-20-PARXMP-09A-01D TARGET-20-PARXMP-14A-03D 343505 1 120378774 120378774 15 AML diagnosis snv TMEM131 missense D1851H NM_015348 20-PARXMP TMEM131 MISSENSE SNP Somatic -9 0.044 SQHIGH 5 32 37 0 26 26 Cosmic_Gene C C G C C TARGET-20-PARXMP-09A-01D TARGET-20-PARXMP-14A-03D 23505 2 98373663 98373663 12 AML diagnosis snv PCDHB3 missense T173I NM_018937 20-PARXMP PCDHB3 MISSENSE SNP Somatic 2 0.114 SQHIGH 7 45 52 1 62 63 Cosmic_Gene C C T C C TARGET-20-PARXMP-09A-01D TARGET-20-PARXMP-14A-03D 56132 5 140480751 140480751 18 AML diagnosis snv FAT2 missense Y3786S NM_001447 20-PARXMP FAT2 MISSENSE SNP Somatic -3 0.071 SQHIGH 5 23 28 1 49 50 Cosmic_Gene T T G T T TARGET-20-PARXMP-09A-01D TARGET-20-PARXMP-14A-03D 2196 5 150897287 150897287 17 AML diagnosis snv DOCK1 missense R626G NM_001380 20-PARXMP DOCK1 MISSENSE SNP Somatic -5 0.060 SQHIGH 3 4 7 0 16 16 Cosmic_Gene C C G C C TARGET-20-PARXMP-09A-01D TARGET-20-PARXMP-14A-03D 1793 10 128836009 128836009 17 AML diagnosis snv C11orf63 silent T703T NM_024806 20-PARXMP C11orf63 SYNONYMOUS SNP Somatic -3 0.071 SQHIGH 9 30 39 2 39 41 Cosmic_Gene T T C T T TARGET-20-PARXMP-09A-01D TARGET-20-PARXMP-14A-03D 79864 11 122828169 122828169 17 AML diagnosis snv CSF3R missense T618I NM_000760 20-PARXNG MRPS15|CSF3R TSS-UPSTREAM|MISSENSE SNP Somatic 10 0.306 SQHIGH 13 30 43 0 39 39 Cosmic_Gene G G A G G TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 64960|1441 1 36933434 36933434 41 AML diagnosis snv CEP350 missense S1589G NM_014810 20-PARXNG CEP350 MISSENSE SNP Somatic -7 0.060 SQHIGH 5 34 39 0 35 35 Cosmic_Gene A A G A A TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 9857 1 180017813 180017813 14 AML diagnosis snv DST missense P2440L NM_001723 20-PARXNG DST INTRON,MISSENSE SNP Somatic -1 0.103 SQHIGH 6 37 43 1 47 48 Cosmic_Gene G G A G G TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 667 6 56480946 56480946 14 AML diagnosis snv MAN1A1 missense N120S NM_005907 20-PARXNG MAN1A1 MISSENSE SNP Somatic 9 0.274 SQHIGH 15 15 30 0 35 35 Cosmic_Gene T T C T T TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 4121 6 119669872 119669872 61 AML diagnosis snv TMEM135 missense G430A NM_022918 20-PARXNG TMEM135 MISSENSE,UTR SNP dbsnp.120:rs11235097 Somatic 4 0.164 SQHIGH 8 12 20 0 13 13 G G C G G TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 65084 11 87032287 87032287 20 AML diagnosis snv PCNX missense S2236P NM_014982 20-PARXNG PCNX MISSENSE SNP Somatic -10 0.047 SQHIGH 5 20 25 0 28 28 Cosmic_Gene T T C T T TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 22990 14 71575725 71575725 17 AML diagnosis snv UNC13C missense R584Q NM_001080534 20-PARXNG UNC13C MISSENSE SNP Somatic 13 0.452 SQHIGH 18 24 42 1 45 46 Cosmic_Gene G G A G G TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 440279 15 54306851 54306851 57 AML diagnosis snv ACSM1 silent Y364Y NM_052956 20-PARXNG ACSM1 SYNONYMOUS SNP Somatic -5 0.070 SQHIGH 4 23 27 0 33 33 Cosmic_Gene G G A G G TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 116285 16 20651807 20651807 14 AML diagnosis complex SP3 frameshift S403fs NM_003111 20-PARXNG SP3 NONSENSE Sub Somatic -4 0.381 SQHIGH 5 17 22 0 34 34 Cosmic_Gene AG AG ACT AG AG TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 6670 2 174820031 174820032 22 AML diagnosis snv SPTAN1 missense D1837N NM_001130438 20-PARYFN SPTAN1 MISSENSE SNP Somatic 3 0.168 SQHIGH 17 35 52 1 33 34 Cosmic_Gene G G A G G TARGET-20-PARYFN-03A-01D TARGET-20-PARYFN-14A-01D 6709 9 131380296 131380296 33 AML diagnosis snv STAB2 silent S713S NM_017564 20-PARYFN STAB2 SYNONYMOUS SNP Somatic 1 0.137 SQHIGH 15 64 79 1 51 52 Cosmic_Gene C C T C C TARGET-20-PARYFN-03A-01D TARGET-20-PARYFN-14A-01D 55576 12 104062474 104062474 27 AML relapse snv C1orf167 missense A1384E NM_001010881 20-PARYFN LOC100506310|MTHFR MISSENSE|UTR3 SNP Somatic 0 0.105 SQHIGH 7 25 32 0 22 22 C C A C C TARGET-20-PARYFN-04A-01D TARGET-20-PARYFN-14A-01D 100506310|4524 1 11848781 11848781 17 AML diagnosis snv NRAS missense G13D NM_002524 20-PARYGA NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 16 0.682 SQHIGH 14 19 33 0 36 36 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 4893 1 115258744 115258744 53 AML diagnosis snv NMNAT2 missense I296V NM_015039 20-PARYGA NMNAT2 MISSENSE SNP Somatic PFAM:PF08218:Citrate_ly_lig -9 0.049 SQHIGH 4 26 30 0 44 44 Cosmic_Gene T T C T T TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 23057 1 183221814 183221814 16 AML diagnosis snv ENAM missense T682R NM_031889 20-PARYGA ENAM MISSENSE SNP Somatic 15 0.603 SQHIGH 20 26 46 0 41 41 Cosmic_Gene C C G C C TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 10117 4 71509188 71509188 66 AML diagnosis snv DCHS2 missense S1355L NM_001142552 20-PARYGA DCHS2 INTRON,MISSENSE SNP Somatic 13 0.454 SQHIGH 12 11 23 0 26 26 Cosmic_Gene G G A G G TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 54798 4 155244436 155244436 48 AML diagnosis snv GALNTL6 missense R321Q NM_001034845 20-PARYGA GALNTL6 MISSENSE SNP Somatic 19 0.945 SQHIGH 19 19 38 0 33 33 Cosmic_Gene G G A G G TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 442117 4 173803979 173803979 64 AML diagnosis snv MYC missense P74Q NM_002467 20-PARYGA MYC MISSENSE SNP Somatic PFAM:PF01056:Myc_N -6 0.063 SQHIGH 19 11 30 0 16 16 Cosmic_Gene C C A C C TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 4609 8 128750684 128750684 49 AML diagnosis snv ZNF462 missense R2355H NM_021224 20-PARYGA ZNF462 MISSENSE SNP Somatic 16 0.682 SQHIGH 14 23 37 0 34 34 Cosmic_Gene G G A G G TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 58499 9 109765582 109765582 46 AML diagnosis snv RALGPS1 missense R381Q NM_014636 20-PARYGA RALGPS1 INTRON,MISSENSE SNP Somatic -8 0.053 SQHIGH 14 14 28 0 17 17 Cosmic_Gene G G A G G TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 9649 9 129958857 129958857 36 AML diagnosis snv RASSF7 missense E131K NM_003475 20-PARYGA RASSF7|C11orf35 MISSENSE|TSS-UPSTREAM SNP Somatic 15 0.603 SQHIGH 25 24 49 0 42 42 Cosmic_Gene G G A G G TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 8045|256329 11 562345 562345 84 AML diagnosis snv PFKM missense S448T NM_001166686 20-PARYGA PFKM MISSENSE SNP Somatic 8 0.244 SQHIGH 22 32 54 0 39 39 Cosmic_Gene G G C G G TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 5213 12 48533634 48533634 62 AML diagnosis snv FBRS splice S49_E5splice NM_001105079 20-PARYGA FBRS ACCEPTOR SNP Somatic 12 0.396 SQHIGH 16 25 41 1 41 42 Cosmic_Gene C C G C C TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 64319 16 30676956 30676956 47 AML diagnosis snv SETBP1 missense K430N NM_015559 20-PARYGA SETBP1 MISSENSE SNP Somatic 4 0.159 SQHIGH 38 28 66 0 72 72 Cosmic_Gene G G T G G TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 26040 18 42530595 42530595 156 AML diagnosis snv IFNL3 silent P162P NM_172139 20-PARYGA IFNL3 SYNONYMOUS SNP Somatic -2 0.088 SQHIGH 18 35 53 1 34 35 T T G T T TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 282617 19 39734470 39734470 36 AML relapse snv DMBX1 silent G231G NM_172225 20-PARYVW DMBX1 SYNONYMOUS SNP Somatic 13 0.508 SQHIGH 10 27 37 0 35 35 Cosmic_Gene C C A C C TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 127343 1 46977725 46977725 32 AML relapse snv KANK4 silent L900L NM_181712 20-PARYVW KANK4 SYNONYMOUS SNP Somatic PFAM:PF12796:Ank_2 0 0.108 SQHIGH 9 32 41 0 43 43 Cosmic_Gene C C T C C TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 163782 1 62713327 62713327 30 AML relapse snv THBS2 splice_region C594_E13splice_region NM_003247 20-PARYVW THBS2 ACCEPTOR SNP Somatic -1 0.098 SQHIGH 11 23 34 0 32 32 Cosmic_Gene G G A G G TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 7058 6 169632916 169632916 36 AML relapse snv ZNF273 silent I450I NM_021148 20-PARYVW ZNF273 SYNONYMOUS,UTR SNP Somatic 1 0.120 SQHIGH 11 20 31 0 32 32 A A T A A TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 10793 7 64389056 64389056 39 AML relapse snv DGKI missense R257G NM_004717 20-PARYVW DGKI MISSENSE SNP Somatic PFAM:PF00130:C1_1 5 0.182 SQHIGH 4 23 27 0 38 38 Cosmic_Gene G G C G G TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 9162 7 137330253 137330253 16 AML relapse snv CDCA2 splice G482_E12splice NM_152562 20-PARYVW CDCA2 ACCEPTOR SNP Somatic -1 0.098 SQHIGH 18 23 41 0 30 30 C C T C C TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 157313 8 25344759 25344759 52 AML relapse snv SORCS3 silent A105A NM_014978 20-PARYVW SORCS3 SYNONYMOUS SNP Somatic -6 0.061 SQHIGH 9 21 30 1 19 20 Cosmic_Gene C C A C C TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 22986 10 106401400 106401400 15 AML relapse snv KCNC1 missense R326C NM_001112741 20-PARYVW KCNC1 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans -7 0.057 SQHIGH 6 35 41 0 41 41 Cosmic_Gene C C T C C TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 3746 11 17793617 17793617 19 AML relapse snv FOXRED1 missense V144I NM_017547 20-PARYVW SRPR|FOXRED1 TSS-UPSTREAM|MISSENSE,UTR SNP Somatic 2 0.133 SQHIGH 12 47 59 0 50 50 G G A G G TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 6734|55572 11 126143243 126143243 34 AML relapse snv ORC6 nonsense Q185* NM_014321 20-PARYVW ORC6 NONSENSE,UTR SNP Somatic 0 0.108 SQHIGH 3 14 17 0 28 28 Cosmic_Gene C C T C C TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 23594 16 46729577 46729577 13 AML relapse snv L3MBTL4-AS1 EXON E5_exon NM_173464 20-PARYVW L3MBTL4 INTRON SNP Somatic 13 0.508 SQHIGH 38 36 74 0 87 87 Cosmic_Gene A A C A A TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 91133 18 6259186 6259186 158 AML relapse snv CBFA2T2 missense E307K NM_005093 20-PARYVW CBFA2T2 MISSENSE SNP Somatic 13 0.508 SQHIGH 20 21 41 0 51 51 Cosmic_Gene G G A G G TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 9139 20 32212769 32212769 85 AML relapse snv TMPRSS15 missense C810Y NM_002772 20-PARYVW TMPRSS15 MISSENSE SNP Somatic 8 0.272 SQHIGH 8 9 17 0 23 23 Cosmic_Gene C C T C C TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 5651 21 19666644 19666644 35 AML relapse snv KCND1 nonsense Y82* NM_004979 20-PARYVW KCND1 NONSENSE SNP Somatic PFAM:PF00651:BTB 1 0.120 SQHIGH 13 49 62 0 53 53 Cosmic_Gene G G T G G TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 3750 X 48826433 48826433 38 AML relapse snv MCF2 missense L236P NM_001099855 20-PARYVW MCF2 MISSENSE SNP Somatic 0 0.108 SQHIGH 9 34 43 0 33 33 Cosmic_Gene A A G A A TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 4168 X 138708827 138708827 24 AML diagnosis snv EIF2B4 missense A77E NM_172195 20-PARYVW SNX17|EIF2B4 TSS-UPSTREAM|MISSENSE SNP Somatic -3 0.080 SQHIGH 4 22 26 0 28 28 Cosmic_Gene G G T G G TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 9784|8890 2 27592325 27592325 13 AML diagnosis snv BSN silent T3178T NM_003458 20-PARYVW BSN SYNONYMOUS SNP Somatic 6 0.210 SQHIGH 5 20 25 0 26 26 Cosmic_Gene C C G C C TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 8927 3 49698812 49698812 16 AML diagnosis snv BSN missense Y3180N NM_003458 20-PARYVW BSN MISSENSE SNP Somatic 10 0.339 SQHIGH 5 14 19 0 21 21 Cosmic_Gene T T A T T TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 8927 3 49698816 49698816 18 AML diagnosis snv MAT2B missense I244V NM_013283 20-PARYVW MAT2B MISSENSE SNP Somatic PFAM:PF04321:RmlD_sub_bind 10 0.339 SQHIGH 11 29 40 0 33 33 Cosmic_Gene A A G A A TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 27430 5 162944576 162944576 32 AML diagnosis snv DOCK4 silent L1136L NM_014705 20-PARYVW DOCK4 SYNONYMOUS SNP Somatic 0 0.109 SQHIGH 4 22 26 1 56 57 Cosmic_Gene T T C T T TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 9732 7 111424002 111424002 15 AML diagnosis snv DOCK4 silent L1135L NM_014705 20-PARYVW DOCK4 SYNONYMOUS SNP Somatic -3 0.080 SQHIGH 5 25 30 1 54 55 Cosmic_Gene T T C T T TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 9732 7 111424005 111424005 17 AML diagnosis snv CDCA2 splice G482_E12splice NM_152562 20-PARYVW CDCA2 ACCEPTOR SNP Somatic -5 0.067 SQHIGH 8 34 42 0 30 30 C C T C C TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 157313 8 25344759 25344759 20 AML diagnosis snv CBFA2T2 missense E307K NM_005093 20-PARYVW CBFA2T2 MISSENSE SNP Somatic 12 0.443 SQHIGH 18 29 47 0 51 51 Cosmic_Gene G G A G G TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 9139 20 32212769 32212769 67 AML diagnosis snv TMPRSS15 missense C810Y NM_002772 20-PARYVW TMPRSS15 MISSENSE SNP Somatic -5 0.067 SQHIGH 4 10 14 0 23 23 Cosmic_Gene C C T C C TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 5651 21 19666644 19666644 18 AML diagnosis snv CYLC1 missense Q70R NM_021118 20-PARYVW CYLC1 MISSENSE SNP Somatic 2 0.132 SQHIGH 6 20 26 0 44 44 Cosmic_Gene A A G A A TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 1538 X 83127925 83127925 28 AML diagnosis snv SPANXN1 nonsense E2* NM_001009614 20-PARYVW SPANXN1 NONSENSE SNP Somatic PFAM:PF07458:SPAN-X 4 0.162 SQHIGH 16 54 70 0 72 72 G G T G G TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 494118 X 144329110 144329110 53 AML diagnosis mnv SLC41A2 missense S88F NM_032148 20-PARYVW SLC41A2 MISSENSE Sub Somatic -10 0.245 SQHIGH 7 51 58 0 66 66 Cosmic_Gene CT CT AA CT CT TARGET-20-PARYVW-09A-01D TARGET-20-PARYVW-14A-01D 84102 12 105322043 105322044 24 AML diagnosis snv SCN7A missense G645S NM_002976 20-PARZUU SCN7A MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 11 0.424 SQHIGH 19 23 42 1 52 53 Cosmic_Gene C C T C C TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 6332 2 167298130 167298130 Somatic Illumina 68 72282 68741 141030 134837 1084 135926 AML diagnosis snv IKZF1 nonsense K380* NM_006060 20-PARZUU IKZF1 NONSENSE SNP Somatic 6 0.213 SQHIGH 8 11 19 1 30 31 Cosmic_Gene A A T A A TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 10320 7 50467903 50467903 Somatic Illumina 30 24892 22179 47099 46896 321 47239 AML diagnosis snv ASB4 missense A243T NM_016116 20-PARZUU ASB4 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 10 0.370 SQHIGH 31 41 72 1 60 61 Cosmic_Gene G G A G G TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 51666 7 95157364 95157364 Somatic Illumina 86 14399 7441 21843 27442 121 27564 AML diagnosis snv CADPS2 missense T399K NM_017954 20-PARZUU CADPS2 MISSENSE SNP Somatic PFAM:PF00168:C2 -1 0.084 SQHIGH 14 12 26 0 25 25 Cosmic_Gene G G T G G TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 93664 7 122255262 122255262 Somatic Illumina 51 12764 11309 24081 21106 142 21257 AML diagnosis snv CACNA1C-AS1 EXON E42_exon NM_199460 20-PARZUU CACNA1C INTRON SNP Somatic 9 0.324 SQHIGH 11 10 21 0 21 21 Cosmic_Gene C C A C C TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 775 12 2786679 2786679 41 AML diagnosis snv PCCA nonsense Q611* NM_000282 20-PARZUU PCCA NONSENSE SNP Somatic 20 1.000 SQHIGH 19 17 36 1 43 44 Cosmic_Gene C C T C C TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 5095 13 101077971 101077971 Somatic Illumina 70 16376 14801 31181 29620 198 29822 AML diagnosis snv ITPKA missense R228G NM_002220 20-PARZUU ITPKA MISSENSE SNP Somatic -8 0.043 SQHIGH 5 8 13 0 19 19 C C G C C TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 3706 15 41793928 41793928 22 AML diagnosis snv GSG2 silent F43F NM_031965 20-PARZUU GSG2|ITGAE SYNONYMOUS|INTRON SNP Somatic 12 0.490 SQHIGH 14 11 25 0 27 27 Cosmic_Gene C C T C C TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 83903|3682 17 3627358 3627358 Somatic Illumina 56 9306 10791 20118 69627 672 70303 AML diagnosis snv KIAA0753 silent A877A NM_014804 20-PARZUU KIAA0753 SYNONYMOUS SNP Somatic 13 0.559 SQHIGH 36 30 66 0 53 53 G G A G G TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 9851 17 6493254 6493254 Somatic Illumina 118 29816 28207 58028 55640 438 56081 AML diagnosis snv ANKFN1 splice R439_E12splice NM_153228 20-PARZUU ANKFN1 DISRUPT SNP Somatic 5 0.172 SQHIGH 23 30 53 0 49 49 Cosmic_Gene G G C G G TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 162282 17 54534617 54534617 Somatic Illumina 78 23686 20630 44336 42818 249 43099 AML diagnosis snv SEPT4 missense R3C NM_004574 20-PARZUU SEPT4 INTRON,TSS-UPSTREAM,MISSENSE,UTR SNP Somatic 3 0.133 SQHIGH 33 39 72 0 42 42 G G A G G TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 5414 17 56606529 56606529 Somatic Illumina 82 14791 12895 27687 29292 154 29448 AML diagnosis complex PML frameshift A549fs NM_033238 20-PARZUU PML INTRON,FRAMESHIFT Sub Somatic PFAM:PF12126:DUF3583 -8 0.255 SQHIGH 29 35 64 1 45 46 Cosmic_Gene CC CC CGG CC CC TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 5371 15 74325744 74325745 Somatic Illumina 71 25377 21258 47294 56436 414 57053 AML diagnosis snv CHML missense L331P NM_001821 20-PARZWH CHML|OPN3 MISSENSE|INTRON SNP Somatic PFAM:PF00996:GDI -28 0.007 5 26 31 0 39 39 Cosmic_Gene A A G A A TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 1122|23596 1 241798077 241798077 19 AML diagnosis snv PROC missense R40H NM_000312 20-PARZWH PROC MISSENSE SNP Somatic PFAM:PF00594:Gla 2 0.124 SQHIGH 8 7 15 0 12 12 G G A G G TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 5624 2 128178907 128178907 25 AML diagnosis snv TNS1 silent T1625T NM_022648 20-PARZWH TNS1 SYNONYMOUS SNP Somatic PFAM:PF00638:Ran_BP1 9 0.257 SQHIGH 12 12 24 1 29 30 Cosmic_Gene C C T C C TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 7145 2 218674632 218674632 41 AML diagnosis snv ILDR1 silent P390P NM_175924 20-PARZWH ILDR1 SYNONYMOUS SNP dbsnp.134:rs138277824 Somatic 14 0.508 SQHIGH 9 16 25 1 36 37 Cosmic_Gene C C T C C TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 286676 3 121712294 121712294 31 AML diagnosis snv ARL14 missense D135E NM_025047 20-PARZWH ARL14 MISSENSE SNP Somatic 1 0.114 SQHIGH 4 20 24 0 35 35 C C G C C TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 80117 3 160395539 160395539 16 AML diagnosis snv WDR1 silent D385D NM_017491 20-PARZWH WDR1|MIR3138 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF00400:WD40 4 0.149 SQHIGH 9 14 23 1 29 30 Cosmic_Gene G G A G G TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 9948|100423011 4 10084687 10084687 29 AML diagnosis snv AGXT2 missense G327R NM_031900 20-PARZWH AGXT2 MISSENSE SNP Somatic 17 0.803 SQHIGH 24 23 47 0 39 39 Cosmic_Gene C C T C C TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 64902 5 35014209 35014209 79 AML diagnosis snv SMNDC1 silent K155K NM_005871 20-PARZWH SMNDC1 SYNONYMOUS SNP Somatic -7 0.057 SQHIGH 4 18 22 0 26 26 Cosmic_Gene C C T C C TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 10285 10 112055100 112055100 14 AML diagnosis snv HCN2 silent P279P NM_001194 20-PARZWH HCN2 SYNONYMOUS SNP Somatic 12 0.376 SQHIGH 11 18 29 0 37 37 C C A C C TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 610 19 603748 603748 45 AML diagnosis snv BSPH1 silent S70S NM_001128326 20-PARZWH BSPH1 SYNONYMOUS SNP dbsnp.134:rs150415301 Somatic PFAM:PF00040:fn2 4 0.149 SQHIGH 10 25 35 0 42 42 C C T C C TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 100131137 19 48480676 48480676 38 AML diagnosis snv U2AF2 missense L187V NM_007279 20-PARZWH U2AF2 MISSENSE SNP Somatic 12 0.376 SQHIGH 17 5 22 0 26 26 Cosmic_Gene T T G T T TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 11338 19 56173940 56173940 82 AML diagnosis snv ZNF582 silent V97V NM_144690 20-PARZWH ZNF582 SYNONYMOUS SNP Somatic 12 0.376 SQHIGH 27 8 35 0 28 28 Cosmic_Gene G G A G G TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 147948 19 56896495 56896495 103 AML diagnosis snv PABPC1L silent T469T NM_001124756 20-PARZWH PABPC1L SYNONYMOUS SNP Somatic -2 0.085 SQHIGH 3 13 16 0 29 29 Cosmic_Gene C C G C C TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 80336 20 43561789 43561789 14 AML diagnosis mnv KMT2A missense R736_K737>KE NM_005933 20-PARZWH KMT2A MISSENSE Sub Somatic -29 0.056 5 54 59 0 76 76 Cosmic_Gene GGA GGA AGG GGA GGA TARGET-20-PARZWH-09A-03D TARGET-20-PARZWH-14A-03D 4297 11 118344081 118344083 18 AML diagnosis snv DISC1 missense E386G NM_001164537 20-PASAUT DISC1|TSNAX-DISC1 INTRON,MISSENSE|INTRON SNP Somatic -10 0.050 SQHIGH 5 21 26 0 25 25 Cosmic_Gene A A G A A TARGET-20-PASAUT-03A-01D TARGET-20-PASAUT-14A-01D 27185|100303453 1 231881189 231881189 16 AML diagnosis snv MGC2889 EXON E1_exon NM_020386 20-PASAUT MGC2889|HRASLS UTR|INTRON SNP Somatic -5 0.076 SQHIGH 5 31 36 0 33 33 C C A C C TARGET-20-PASAUT-03A-01D TARGET-20-PASAUT-14A-01D 84789|57110 3 192961656 192961656 15 AML diagnosis mnv DCC missense V1111S NM_005215 20-PASAUT DCC MISSENSE Sub Somatic -6 0.366 SQHIGH 8 34 42 0 39 39 Cosmic_Gene GT GT TC GT GT TARGET-20-PASAUT-03A-01D TARGET-20-PASAUT-14A-01D 1630 18 50976971 50976972 24 AML relapse snv SPEN silent R3168R NM_015001 20-PASBBE SPEN SYNONYMOUS SNP Somatic -5 0.094 SQHIGH 16 15 31 0 15 15 Cosmic_Gene C C A C C TARGET-20-PASBBE-04A-02D TARGET-20-PASBBE-14A-01D 23013 1 16262237 16262237 35 AML relapse snv LOXL3 missense R405W NM_032603 20-PASBBE LOXL3 MISSENSE SNP Somatic PFAM:PF00530:SRCR 9 0.377 SQHIGH 25 28 53 0 70 70 G G A G G TARGET-20-PASBBE-04A-02D TARGET-20-PASBBE-14A-01D 84695 2 74763158 74763158 110 AML relapse snv ENC1 missense R69C NM_003633 20-PASBBE ENC1 MISSENSE SNP Somatic PFAM:PF00651:BTB 2 0.181 SQHIGH 14 19 33 0 13 13 Cosmic_Gene G G A G G TARGET-20-PASBBE-04A-02D TARGET-20-PASBBE-14A-01D 8507 5 73932106 73932106 25 AML relapse snv TRIM24 missense R910L NM_015905 20-PASBBE TRIM24 MISSENSE SNP Somatic 10 0.422 SQHIGH 7 12 19 0 24 24 Cosmic_Gene G G T G G TARGET-20-PASBBE-04A-02D TARGET-20-PASBBE-14A-01D 8805 7 138266452 138266452 28 AML relapse snv ANKS4B silent A93A NM_145865 20-PASBBE ANKS4B SYNONYMOUS SNP Somatic PFAM:PF12796:Ank_2 11 0.470 SQHIGH 17 32 49 1 50 51 Cosmic_Gene C C T C C TARGET-20-PASBBE-04A-02D TARGET-20-PASBBE-14A-01D 257629 16 21261166 21261166 50 AML relapse snv MYH2 missense T356M NM_017534 20-PASBBE MYH2 MISSENSE SNP dbsnp.134:rs144860788 Somatic -2 0.123 SQHIGH 18 26 44 0 46 46 Cosmic_Gene G G A G G TARGET-20-PASBBE-04A-02D TARGET-20-PASBBE-14A-01D 4620 17 10443325 10443325 66 AML diagnosis snv SKI silent L286L NM_003036 20-PASBBE SKI SYNONYMOUS SNP Somatic PFAM:PF08782:c-SKI_SMAD_bind -6 0.092 SQHIGH 8 25 33 0 26 26 Cosmic_Gene G G C G G TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 6497 1 2161063 2161063 22 AML diagnosis snv SPEN silent R3168R NM_015001 20-PASBBE SPEN SYNONYMOUS SNP Somatic -5 0.098 SQHIGH 16 7 23 0 15 15 Cosmic_Gene C C A C C TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 23013 1 16262237 16262237 50 AML diagnosis snv CSF3R missense T618I NM_000760 20-PASBBE MRPS15|CSF3R TSS-UPSTREAM|MISSENSE SNP Somatic 1 0.168 SQHIGH 10 46 56 0 39 39 Cosmic_Gene G G A G G TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 64960|1441 1 36933434 36933434 25 AML diagnosis snv TRIM24 missense R910L NM_015905 20-PASBBE TRIM24 MISSENSE SNP Somatic 15 0.746 SQHIGH 11 15 26 0 24 24 Cosmic_Gene G G T G G TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 8805 7 138266452 138266452 37 AML diagnosis snv RUNX1T1 splice A160_E5splice NM_004349 20-PASBBE RUNX1T1 DISRUPT SNP Somatic -7 0.084 SQHIGH 10 43 53 0 21 21 Cosmic_Gene T T A T T TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 862 8 93017527 93017527 16 AML diagnosis snv ANKS4B silent A93A NM_145865 20-PASBBE ANKS4B SYNONYMOUS SNP Somatic PFAM:PF12796:Ank_2 13 0.600 SQHIGH 37 42 79 1 50 51 Cosmic_Gene C C T C C TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 257629 16 21261166 21261166 86 AML diagnosis snv MYH2 missense T356M NM_017534 20-PASBBE MYH2 MISSENSE SNP dbsnp.134:rs144860788 Somatic -2 0.127 SQHIGH 23 19 42 0 46 46 Cosmic_Gene G G A G G TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 4620 17 10443325 10443325 93 AML diagnosis snv RPRD2 splice_region G471_E9splice_region NM_015203 20-PASBHI RPRD2 DONOR SNP Somatic -3 0.093 SQHIGH 13 38 51 0 51 51 Cosmic_Gene G G C G G TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 23248 1 150432798 150432798 43 AML diagnosis snv CACNA1E missense R2040W NM_000721 20-PASBHI CACNA1E MISSENSE SNP Somatic -12 0.046 6 44 50 0 51 51 Cosmic_Gene C C T C C TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 777 1 181765842 181765842 19 AML diagnosis snv EXOC8 silent N186N NM_175876 20-PASBHI C1orf124|EXOC8 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 10 0.333 SQHIGH 17 10 27 0 39 39 Cosmic_Gene A A G A A TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 83932|149371 1 231472934 231472934 85 AML diagnosis snv GRSF1 missense G334S NM_002092 20-PASBHI GRSF1 MISSENSE SNP Somatic 13 0.483 SQHIGH 11 15 26 0 44 44 C C T C C TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 2926 4 71693704 71693704 54 AML diagnosis snv ATG12 nonsense C134* NM_004707 20-PASBHI ATG12 NONSENSE,UTR SNP Somatic 19 0.946 SQHIGH 16 21 37 0 43 43 G G T G G TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 9140 5 115167522 115167522 63 AML diagnosis snv IARS missense G286A NM_002161 20-PASBHI IARS MISSENSE SNP Somatic 14 0.557 SQHIGH 21 6 27 1 45 46 Cosmic_Gene C C G C C TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 3376 9 95040182 95040182 113 AML diagnosis snv NFKB2 silent Y85Y NM_001077494 20-PASBHI NFKB2 SYNONYMOUS SNP Somatic 9 0.297 SQHIGH 14 35 49 0 57 57 Cosmic_Gene C C T C C TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 4791 10 104156672 104156672 52 AML diagnosis snv OR8K3 silent Y120Y NM_001005202 20-PASBHI OR8K3 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 1 0.134 SQHIGH 11 40 52 0 45 45 Cosmic_Gene C C T C C TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 219473 11 56086142 56086142 33 AML diagnosis snv P2RY2 missense G155R NM_176072 20-PASBHI P2RY2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -2 0.102 SQHIGH 4 6 10 0 20 20 Cosmic_Gene G G A G G TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 5029 11 72945667 72945667 21 AML diagnosis snv FOXN4 missense D66A NM_213596 20-PASBHI FOXN4 MISSENSE SNP Somatic 10 0.333 SQHIGH 8 23 31 0 35 35 Cosmic_Gene T T G T T TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 121643 12 109727981 109727981 29 AML diagnosis snv CDK5RAP1 silent H33H NM_016408 20-PASBHI CDK5RAP1 SYNONYMOUS,INTRON SNP Somatic -7 0.068 SQHIGH 4 8 12 1 25 26 Cosmic_Gene G G A G G TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 51654 20 31984772 31984772 16 AML diagnosis snv TP53TG5 splice T41T NM_014477 20-PASBHI TP53TG5|SYS1-DBNDD2 SYNONYMOUS|INTRON SNP Somatic 7 0.240 SQHIGH 20 35 55 0 54 54 Cosmic_Gene C C T C C TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 27296|767557 20 44006179 44006179 69 AML diagnosis snv ZDHHC15 missense R96H NM_144969 20-PASBHI ZDHHC15 MISSENSE SNP Somatic 18 0.876 SQHIGH 25 1 26 0 21 21 Cosmic_Gene C T C TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 158866 X 74670729 74670729 118 AML diagnosis snv SDHA silent G206G NM_004168 20-PASBPK SDHA SYNONYMOUS SNP Somatic PFAM:PF00670:AdoHcyase_NAD -8 0.041 SQHIGH 5 35 40 0 41 41 A A G A A TARGET-20-PASBPK-09A-01D TARGET-20-PASBPK-14A-01D 6389 5 226159 226159 16 AML diagnosis snv OTULIN missense Q46E NM_138348 20-PASBPK OTULIN MISSENSE SNP Somatic -10 0.034 SQHIGH 3 5 8 0 13 13 Cosmic_Gene C C G C C TARGET-20-PASBPK-09A-01D TARGET-20-PASBPK-14A-01D 90268 5 14665070 14665070 14 AML diagnosis mnv MPND missense P210A NM_032868 20-PASBPK MPND MISSENSE Sub Somatic -9 0.212 SQHIGH 6 23 29 0 20 20 Cosmic_Gene CCA CCA GCC CCA CCA TARGET-20-PASBPK-09A-01D TARGET-20-PASBPK-14A-01D 84954 19 4352990 4352992 15 AML relapse snv UGT1A1 splice T332_E2splice NM_000463 20-PASCCS UGT1A1|UGT1A4|UGT1A9|UGT1A10|UGT1A6|UGT1A8|UGT1A7|UGT1A5|UGT1A3 DISRUPT|DISRUPT|DISRUPT|DISRUPT|DISRUPT|DISRUPT|DISRUPT|DISRUPT|DISRUPT SNP Somatic 12 0.431 SQHIGH 16 32 48 0 38 38 Cosmic_Gene T T C T T TARGET-20-PASCCS-04A-03D TARGET-20-PASCCS-14A-01D 54658|54657|54600|54575|54578|54576|54577|54579|54659 2 234675813 234675813 46 AML relapse snv QRSL1 missense A181V NM_018292 20-PASCCS QRSL1 MISSENSE SNP Somatic PFAM:PF04752:ChaC 10 0.331 SQHIGH 9 23 32 0 48 48 C C T C C TARGET-20-PASCCS-04A-03D TARGET-20-PASCCS-14A-01D 55278 6 107097061 107097061 39 AML relapse snv CSMD3 missense P2317A NM_198123 20-PASCCS CSMD3 MISSENSE SNP Somatic -3 0.075 SQHIGH 6 27 33 0 21 21 Cosmic_Gene G G C G G TARGET-20-PASCCS-04A-03D TARGET-20-PASCCS-14A-01D 114788 8 113348951 113348951 14 AML relapse snv IDH2 missense R140G NM_002168 20-PASCCS IDH2 MISSENSE SNP Somatic PFAM:PF00180:Iso_dh 4 0.151 SQHIGH 11 48 59 0 102 102 Cosmic_Gene G G C G G TARGET-20-PASCCS-04A-03D TARGET-20-PASCCS-14A-01D 3418 15 90631935 90631935 51 AML relapse snv TMEM74B missense E8G NM_018354 20-PASCCS TMEM74B MISSENSE SNP Somatic -24 0.009 9 53 62 1 64 65 Cosmic_Gene T T C T T TARGET-20-PASCCS-04A-03D TARGET-20-PASCCS-14A-01D 55321 20 1164423 1164423 22 AML diagnosis snv LOC101927907 EXON E3_exon NM_001134745 20-PASCCS LRRTM4 INTRON SNP Somatic -4 0.070 SQHIGH 6 25 31 0 22 22 Cosmic_Gene A A C A A TARGET-20-PASCCS-09A-01D TARGET-20-PASCCS-14A-01D 80059 2 77236820 77236820 15 AML diagnosis snv NUP210 silent A1477A NM_024923 20-PASCCS NUP210 SYNONYMOUS SNP Somatic -38 0.001 3 12 15 0 42 42 Cosmic_Gene G G T G G TARGET-20-PASCCS-09A-01D TARGET-20-PASCCS-14A-01D 23225 3 13368793 13368793 18 AML diagnosis snv QRSL1 missense A181V NM_018292 20-PASCCS QRSL1 MISSENSE SNP Somatic PFAM:PF04752:ChaC 13 0.495 SQHIGH 20 24 44 0 48 48 C C T C C TARGET-20-PASCCS-09A-01D TARGET-20-PASCCS-14A-01D 55278 6 107097061 107097061 77 AML diagnosis snv HNF1A silent P447P NM_000545 20-PASCCS HNF1A SYNONYMOUS SNP Somatic PFAM:PF04812:HNF-1B_C 5 0.170 SQHIGH 5 12 17 0 24 24 Cosmic_Gene G G A G G TARGET-20-PASCCS-09A-01D TARGET-20-PASCCS-14A-01D 6927 12 121435308 121435308 21 AML diagnosis snv VPS13C missense V3394A NM_017684 20-PASCCS VPS13C MISSENSE SNP Somatic -3 0.076 SQHIGH 11 22 33 0 16 16 Cosmic_Gene A A G A A TARGET-20-PASCCS-09A-01D TARGET-20-PASCCS-14A-01D 54832 15 62167959 62167959 22 AML diagnosis snv IDH2 missense R140G NM_002168 20-PASCCS IDH2 MISSENSE SNP Somatic PFAM:PF00180:Iso_dh 11 0.376 SQHIGH 26 30 56 0 102 102 Cosmic_Gene G G C G G TARGET-20-PASCCS-09A-01D TARGET-20-PASCCS-14A-01D 3418 15 90631935 90631935 138 AML diagnosis snv ABCG1 missense N442I NM_016818 20-PASCCS ABCG1 MISSENSE SNP Somatic PFAM:PF01061:ABC2_membrane -6 0.060 SQHIGH 7 51 58 0 59 59 Cosmic_Gene A A T A A TARGET-20-PASCCS-09A-01D TARGET-20-PASCCS-14A-01D 9619 21 43710260 43710260 22 AML diagnosis snv CCDC18 silent S848S NM_206886 20-PASCFW CCDC18 SYNONYMOUS SNP Somatic PFAM:PF01496:V_ATPase_I -2 0.095 SQHIGH 5 26 31 0 28 28 Cosmic_Gene A A G A A TARGET-20-PASCFW-09A-01D TARGET-20-PASCFW-14A-01D 343099 1 93701888 93701888 15 AML diagnosis snv SF3B1 missense R625L NM_012433 20-PASCFW SF3B1 MISSENSE SNP Somatic 2 0.140 SQHIGH 5 24 29 0 39 39 Cosmic_Gene C C A C C TARGET-20-PASCFW-09A-01D TARGET-20-PASCFW-14A-01D 23451 2 198267483 198267483 19 AML diagnosis snv AUTS2 silent P551P NM_015570 20-PASCFW AUTS2 SYNONYMOUS SNP Somatic -10 0.049 SQHIGH 9 44 53 2 55 57 Cosmic_Gene A A C A A TARGET-20-PASCFW-09A-01D TARGET-20-PASCFW-14A-01D 26053 7 70231284 70231284 17 AML diagnosis snv EZH2 missense R685H NM_001203247 20-PASCFW EZH2 MISSENSE SNP Somatic PFAM:PF00856:SET -23 0.013 6 24 30 0 36 36 COSMIC:mut:52980 Cosmic_Gene C C T C C TARGET-20-PASCFW-09A-01D TARGET-20-PASCFW-14A-01D 2146 7 148506443 148506443 22 AML diagnosis snv JAK2 missense M535I NM_004972 20-PASCFW JAK2 MISSENSE SNP Somatic -6 0.067 SQHIGH 4 16 20 0 29 29 Cosmic_Gene G G T G G TARGET-20-PASCFW-09A-01D TARGET-20-PASCFW-14A-01D 3717 9 5070016 5070016 16 AML diagnosis snv TLN1 missense V299M NM_006289 20-PASCFW TLN1 MISSENSE SNP Somatic PFAM:PF00373:FERM_M -7 0.063 SQHIGH 7 38 45 0 48 48 Cosmic_Gene C C T C C TARGET-20-PASCFW-09A-01D TARGET-20-PASCFW-14A-01D 7094 9 35722169 35722169 23 AML diagnosis snv WDR25 missense E170G NM_024515 20-PASCFW WDR25 MISSENSE SNP Somatic -10 0.049 SQHIGH 6 30 36 1 42 43 A A G A A TARGET-20-PASCFW-09A-01D TARGET-20-PASCFW-14A-01D 79446 14 100847770 100847770 15 AML diagnosis snv REV3L missense R1873Q NM_002912 20-PASCGR REV3L MISSENSE SNP Somatic -29 0.007 3 33 36 0 60 60 Cosmic_Gene C C T C C TARGET-20-PASCGR-03A-01D TARGET-20-PASCGR-14A-02D 5980 6 111693940 111693940 13 AML diagnosis snv IGDCC4 missense A418G NM_020962 20-PASCGR IGDCC4 MISSENSE SNP Somatic 1 0.132 SQHIGH 9 29 38 1 36 37 Cosmic_Gene G G C G G TARGET-20-PASCGR-03A-01D TARGET-20-PASCGR-14A-02D 57722 15 65688246 65688246 21 AML diagnosis snv ABCC12 silent A1026A NM_033226 20-PASCGR ABCC12 SYNONYMOUS SNP dbsnp.134:rs150779342 Somatic -3 0.089 SQHIGH 17 55 72 0 63 63 Cosmic_Gene C C T C C TARGET-20-PASCGR-03A-01D TARGET-20-PASCGR-14A-02D 94160 16 48130774 48130774 51 AML diagnosis snv MYH13 silent R1145R NM_003802 20-PASCGR MYH13 SYNONYMOUS SNP Somatic PFAM:PF01576:Myosin_tail_1 -6 0.070 SQHIGH 13 66 79 0 116 116 Cosmic_Gene T T G T T TARGET-20-PASCGR-03A-01D TARGET-20-PASCGR-14A-02D 8735 17 10222412 10222412 54 AML diagnosis snv ZNF676 silent C454C NM_001001411 20-PASCGR ZNF676 SYNONYMOUS SNP Somatic -9 0.054 SQHIGH 8 45 53 0 52 52 A A G A A TARGET-20-PASCGR-03A-01D TARGET-20-PASCGR-14A-02D 163223 19 22363157 22363157 25 AML relapse snv PAK6 nonsense *682R NM_020168 20-PASCGR PAK6 NONSTOP SNP Somatic -3 0.084 SQHIGH 5 32 37 0 48 48 Cosmic_Gene T T A T T TARGET-20-PASCGR-04A-02D TARGET-20-PASCGR-14A-02D 56924 15 40568293 40568293 19 AML diagnosis snv CYP4A11 missense R96H NM_000778 20-PASCRZ CYP4A11 MISSENSE SNP Somatic PFAM:PF00067:p450 14 0.618 SQHIGH 24 22 46 0 57 57 Cosmic_Gene C C T C C TARGET-20-PASCRZ-03A-01D TARGET-20-PASCRZ-14A-02D 1579 1 47403718 47403718 104 AML diagnosis snv EXOC8 missense H461Y NM_175876 20-PASCRZ C1orf124|EXOC8 TSS-UPSTREAM|MISSENSE SNP Somatic 14 0.618 SQHIGH 39 50 89 0 99 99 Cosmic_Gene G G A G G TARGET-20-PASCRZ-03A-01D TARGET-20-PASCRZ-14A-02D 83932|149371 1 231472111 231472111 151 AML diagnosis snv B3GALT1 missense S237L NM_020981 20-PASCRZ B3GALT1 MISSENSE SNP Somatic PFAM:PF01762:Galactosyl_T 15 0.704 SQHIGH 27 23 50 1 63 64 Cosmic_Gene C C T C C TARGET-20-PASCRZ-03A-01D TARGET-20-PASCRZ-14A-02D 8708 2 168726259 168726259 107 AML diagnosis snv SCN11A missense V566I NM_014139 20-PASCRZ SCN11A MISSENSE SNP Somatic 19 0.953 SQHIGH 17 22 39 0 57 57 Cosmic_Gene C C T C C TARGET-20-PASCRZ-03A-01D TARGET-20-PASCRZ-14A-02D 11280 3 38945502 38945502 78 AML diagnosis snv SPATA18 nonsense S213* NM_145263 20-PASCRZ SPATA18 NONSENSE SNP Somatic -8 0.061 SQHIGH 6 55 61 1 71 72 Cosmic_Gene C C G C C TARGET-20-PASCRZ-03A-01D TARGET-20-PASCRZ-14A-02D 132671 4 52938202 52938202 14 AML diagnosis snv FLT4 missense T124M NM_182925 20-PASCRZ FLT4 MISSENSE SNP Somatic 8 0.296 SQHIGH 23 32 55 1 82 83 Cosmic_Gene G G A G G TARGET-20-PASCRZ-03A-01D TARGET-20-PASCRZ-14A-02D 2324 5 180057584 180057584 94 AML diagnosis snv PKD1L1 silent N421N NM_138295 20-PASCRZ PKD1L1 SYNONYMOUS SNP Somatic 13 0.536 SQHIGH 9 23 32 0 46 46 Cosmic_Gene G G A G G TARGET-20-PASCRZ-03A-01D TARGET-20-PASCRZ-14A-02D 168507 7 47947813 47947813 38 AML diagnosis snv ARSG missense D285N NM_014960 20-PASCRZ ARSG MISSENSE SNP Somatic PFAM:PF00884:Sulfatase 15 0.704 SQHIGH 45 45 90 2 114 116 Cosmic_Gene G G A G G TARGET-20-PASCRZ-03A-01D TARGET-20-PASCRZ-14A-02D 22901 17 66364837 66364837 170 AML relapse snv MMACHC missense Q27E NM_015506 20-PASCRZ MMACHC|CCDC163P MISSENSE|TSS-UPSTREAM SNP Somatic -9 0.058 SQHIGH 5 39 44 1 68 69 C C G C C TARGET-20-PASCRZ-04A-02D TARGET-20-PASCRZ-14A-02D 25974|126661 1 45966083 45966083 15 AML relapse snv ZBED6 missense I486L NM_001174108 20-PASCRZ ZC3H11A|ZBED6 INTRON|MISSENSE SNP Somatic -4 0.088 SQHIGH 8 62 70 2 77 79 Cosmic_Gene A A T A A TARGET-20-PASCRZ-04A-02D TARGET-20-PASCRZ-14A-02D 9877|100381270 1 203768106 203768106 15 AML relapse snv ACVR1C silent A255A NM_145259 20-PASCRZ ACVR1C SYNONYMOUS,INTRON SNP Somatic PFAM:PF00069:Pkinase -24 0.013 3 14 17 0 35 35 COSMIC:mut:20673 Cosmic_Gene A A T A A TARGET-20-PASCRZ-04A-02D TARGET-20-PASCRZ-14A-02D 130399 2 158406684 158406684 15 AML relapse snv PPAP2C missense K190Q NM_003712 20-PASCRZ PPAP2C MISSENSE SNP Somatic 2 0.152 SQHIGH 4 9 13 1 22 23 Cosmic_Gene T T G T T TARGET-20-PASCRZ-04A-02D TARGET-20-PASCRZ-14A-02D 8612 19 282283 282283 13 AML relapse snv KRTAP10-4 missense C349S NM_198687 20-PASCRZ TSPEAR|KRTAP10-4 INTRON|MISSENSE SNP Somatic 0 0.127 SQHIGH 5 8 13 1 27 28 Cosmic_Gene T T A T T TARGET-20-PASCRZ-04A-02D TARGET-20-PASCRZ-14A-02D 54084|386672 21 45994680 45994680 21 AML relapse snv TCP11 missense V345I NM_001093728 20-PASFEW TCP11 MISSENSE SNP Somatic PFAM:PF05794:Tcp11 3 0.154 SQHIGH 11 37 48 2 50 52 Cosmic_Gene C C T C C TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 6954 6 35088057 35088057 23 AML relapse snv BRPF3 missense R200P NM_015695 20-PASFEW BRPF3 MISSENSE SNP Somatic -10 0.047 SQHIGH 5 38 43 0 30 30 Cosmic_Gene G G C G G TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 27154 6 36168698 36168698 12 AML relapse snv ZNF92 silent A308A NM_007139 20-PASFEW ZNF92 SYNONYMOUS SNP Somatic -3 0.084 SQHIGH 7 9 16 0 18 18 C C T C C TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 168374 7 64864158 64864158 27 AML relapse snv MIR1322 EXON E5_exon NM_017884 20-PASFEW PINX1|MIR1322 INTRON|UTR SNP Somatic 14 0.580 SQHIGH 17 21 38 0 39 39 Cosmic_Gene T T A T T TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 54984|100302166 8 10682923 10682923 hsa-mir-1322:MI0006653 62 AML relapse snv EXOSC1 missense V52E NM_016046 20-PASFEW ZDHHC16|EXOSC1 TSS-UPSTREAM|MISSENSE SNP Somatic -5 0.071 SQHIGH 6 39 45 0 44 44 Cosmic_Gene A A T A A TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 84287|51013 10 99203061 99203061 19 AML relapse snv EXOSC1 missense P51R NM_016046 20-PASFEW ZDHHC16|EXOSC1 TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.061 SQHIGH 6 47 53 0 45 45 Cosmic_Gene G G C G G TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 84287|51013 10 99203064 99203064 17 AML relapse snv VEZF1 missense P105Q NM_007146 20-PASFEW VEZF1 MISSENSE SNP Somatic 6 0.216 SQHIGH 14 65 79 0 50 50 Cosmic_Gene G G T G G TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 7716 17 56060474 56060474 32 AML relapse snv VEZF1 missense R104Q NM_007146 20-PASFEW VEZF1 MISSENSE SNP Somatic 5 0.188 SQHIGH 14 63 77 0 49 49 Cosmic_Gene C C T C C TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 7716 17 56060477 56060477 32 AML relapse snv KDM4B missense P467L NM_015015 20-PASFEW KDM4B MISSENSE SNP Somatic -8 0.055 SQHIGH 6 39 45 0 27 27 Cosmic_Gene C C T C C TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 23030 19 5131171 5131171 13 AML relapse snv INSL3 missense Y114C NM_005543 20-PASFEW INSL3 MISSENSE SNP Somatic -5 0.071 SQHIGH 6 20 26 0 18 18 T T C T T TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 3640 19 17927718 17927718 15 AML relapse snv PPM1F missense P72L NM_014634 20-PASFEW LOC100286925|PPM1F INTRON|MISSENSE SNP Somatic 2 0.139 SQHIGH 6 28 34 0 28 28 Cosmic_Gene G G A G G TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 100286925|9647 22 22294044 22294044 17 AML relapse mnv NCOR1 missense L2393T NM_006311 20-PASFEW NCOR1 MISSENSE Sub Somatic -9 0.286 SQHIGH 6 23 29 0 36 36 Cosmic_Gene AG AG GT AG AG TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 9611 17 15935755 15935756 22 AML relapse mnv XKR7 missense Q562_Y563>VG NM_001011718 20-PASFEW XKR7 MISSENSE Sub Somatic -7 0.322 SQHIGH 5 22 27 0 24 24 Cosmic_Gene CAGTA CAGTA GTGGG CAGTA CAGTA TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 343702 20 30585204 30585208 15 AML relapse mnv SLMO2 nonsense L137* NM_016045 20-PASFEW SLMO2-ATP5E|ATP5E|SLMO2 UTR|TSS-UPSTREAM|NONSENSE Sub Somatic PFAM:PF04707:PRELI -9 0.286 SQHIGH 9 28 37 0 35 35 Cosmic_Gene GAG GAG TCA GAG GAG TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 100533975|514|51012 20 57611580 57611582 28 AML diagnosis snv LRP2 missense L2558M NM_004525 20-PASFEW LRP2 MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b -9 0.051 SQHIGH 5 12 17 0 12 12 Cosmic_Gene G G T G G TARGET-20-PASFEW-09A-02D TARGET-20-PASFEW-14A-01D 4036 2 170062032 170062032 13 AML diagnosis snv DHX30 nonsense R174* NM_138615 20-PASFEW DHX30 NONSENSE SNP Somatic 11 0.391 SQHIGH 14 29 43 1 52 53 Cosmic_Gene C C T C C TARGET-20-PASFEW-09A-02D TARGET-20-PASFEW-14A-01D 22907 3 47882520 47882520 45 AML diagnosis snv MIR1322 EXON E5_exon NM_017884 20-PASFEW PINX1|MIR1322 INTRON|UTR SNP Somatic -5 0.071 SQHIGH 11 30 41 0 39 39 Cosmic_Gene T T A T T TARGET-20-PASFEW-09A-02D TARGET-20-PASFEW-14A-01D 54984|100302166 8 10682923 10682923 hsa-mir-1322:MI0006653 35 AML diagnosis snv HSPA5 silent L416L NM_005347 20-PASFEW HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -3 0.084 SQHIGH 14 43 57 1 50 51 Cosmic_Gene C C A C C TARGET-20-PASFEW-09A-02D TARGET-20-PASFEW-14A-01D 3309 9 128000574 128000574 33 AML diagnosis snv HSPA5 silent V415V NM_005347 20-PASFEW HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 3 0.154 SQHIGH 13 43 56 1 50 51 Cosmic_Gene T T G T T TARGET-20-PASFEW-09A-02D TARGET-20-PASFEW-14A-01D 3309 9 128000577 128000577 31 AML diagnosis snv ZNF541 silent R1216R NM_001277075 20-PASFEW ZNF541 SYNONYMOUS SNP Somatic -7 0.060 SQHIGH 5 45 50 0 61 61 Cosmic_Gene G G T G G TARGET-20-PASFEW-09A-02D TARGET-20-PASFEW-14A-01D 84215 19 48025176 48025176 18 AML diagnosis snv PTPRU silent H68H NM_133178 20-PASFJB PTPRU SYNONYMOUS SNP Somatic 7 0.201 SQHIGH 26 26 52 0 45 45 Cosmic_Gene C C T C C TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 10076 1 29581917 29581917 88 AML diagnosis snv PCDHA7 silent D342D NM_018910 20-PASFJB PCDHA4|PCDHA1|PCDHA5|PCDHA6|PCDHA7|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|INTRON SNP Somatic -10 0.044 SQHIGH 4 30 34 0 52 52 Cosmic_Gene T T C T T TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 56144|56147|56143|56142|56141|56145|56146 5 140214994 140214994 17 AML diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 20-PASFJB KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 6 0.180 SQHIGH 23 31 54 0 33 33 Cosmic_Gene G G A G G TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 3784|10984 11 2683151 2683151 58 AML diagnosis snv TRIP11 missense Q1059L NM_004239 20-PASFJB TRIP11 MISSENSE SNP Somatic -7 0.055 SQHIGH 4 15 19 0 30 30 Cosmic_Gene T T A T T TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 9321 14 92471144 92471144 17 AML diagnosis snv BDKRB1 missense P265L NM_000710 20-PASFJB BDKRB1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -8 0.050 SQHIGH 7 22 29 1 33 34 Cosmic_Gene C C T C C TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 623 14 96730813 96730813 18 AML diagnosis snv MGA missense T1594P NM_001164273 20-PASFJB MGA INTRON,MISSENSE SNP Somatic -6 0.060 SQHIGH 4 16 20 0 22 22 Cosmic_Gene A A C A A TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 23269 15 42034938 42034938 14 AML diagnosis snv PPL missense E1503K NM_002705 20-PASFJB PPL MISSENSE SNP Somatic 15 0.582 SQHIGH 15 23 38 1 38 39 Cosmic_Gene C C T C C TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 5493 16 4934149 4934149 43 AML diagnosis snv SNRNP70 silent P426P NM_003089 20-PASFJB SNRNP70 SYNONYMOUS SNP Somatic 7 0.201 SQHIGH 15 16 31 0 27 27 G G A G G TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 6625 19 49611664 49611664 50 AML diagnosis snv SIRPD silent L20L NM_178460 20-PASFJB SIRPD SYNONYMOUS SNP Somatic -5 0.063 SQHIGH 4 13 17 0 19 19 Cosmic_Gene C C A C C TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 128646 20 1538240 1538240 14 AML relapse snv BTBD19 missense A196V NM_001136537 20-PASFLM BTBD19 MISSENSE SNP Somatic PFAM:PF07707:BACK -8 0.046 SQHIGH 6 7 13 1 26 27 C C T C C TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 149478 1 45278913 45278913 26 AML relapse snv COL7A1 missense R1529H NM_000094 20-PASFLM MIR711|COL7A1 TSS-UPSTREAM|MISSENSE SNP Somatic 8 0.241 SQHIGH 9 25 34 0 40 40 Cosmic_Gene C C T C C TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 100313843|1294 3 48619924 48619924 33 AML relapse snv ADIPOQ-AS1 EXON E1_exon NM_004797 20-PASFLM ADIPOQ INTRON SNP Somatic 6 0.187 SQHIGH 19 39 58 1 58 59 Cosmic_Gene C C T C C TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 9370 3 186569926 186569926 55 AML relapse snv FAM151B missense A5S NM_205548 20-PASFLM FAM151B MISSENSE SNP Somatic -8 0.046 SQHIGH 4 14 18 0 31 31 G G T G G TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 167555 5 79783955 79783955 18 AML relapse snv ARRDC3 missense N360H NM_020801 20-PASFLM ARRDC3 MISSENSE SNP Somatic 16 0.727 SQHIGH 11 24 35 0 40 40 Cosmic_Gene T T G T T TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 57561 5 90669611 90669611 41 AML relapse snv FGFR4 splice_region R466_E10splice_region NM_002011 20-PASFLM FGFR4 DONOR SNP Somatic 12 0.406 SQHIGH 12 20 32 1 34 35 Cosmic_Gene C C T C C TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 2264 5 176520556 176520556 35 AML relapse snv HOXA-AS3 EXON E2_exon NM_006896 20-PASFLM HOXA7|LOC100133311 UTR3|UTR SNP Somatic -1 0.086 SQHIGH 12 33 45 0 38 38 G G A G G TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 3204|100133311 7 27194517 27194517 35 AML relapse snv GPAA1 missense E93G NM_003801 20-PASFLM GPAA1 MISSENSE SNP Somatic 10 0.310 SQHIGH 14 28 42 0 42 42 A A G A A TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 8733 8 145138315 145138315 48 AML relapse snv OR8J1 missense R122H NM_001005205 20-PASFLM OR8J1 MISSENSE SNP dbsnp.134:rs150618551 Somatic PFAM:PF00001:7tm_1 15 0.650 SQHIGH 15 20 35 1 41 42 Cosmic_Gene G G A G G TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 219477 11 56128087 56128087 50 AML relapse snv SUV420H1 missense E325V NM_017635 20-PASFLM SUV420H1 MISSENSE SNP Somatic 2 0.117 SQHIGH 14 26 40 0 46 46 Cosmic_Gene T T A T T TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 51111 11 67938485 67938485 53 AML relapse snv TRIM29 missense R209Q NM_012101 20-PASFLM TRIM29 MISSENSE SNP Somatic 1 0.106 SQHIGH 11 14 25 0 30 30 Cosmic_Gene C C T C C TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 23650 11 120008114 120008114 44 AML relapse snv NFE2 missense L326P NM_006163 20-PASFLM NFE2 MISSENSE SNP Somatic 6 0.187 SQHIGH 15 41 56 2 40 42 A A G A A TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 4778 12 54686303 54686303 25 AML relapse snv RBBP6 missense L354V NM_006910 20-PASFLM RBBP6 MISSENSE SNP Somatic 14 0.546 SQHIGH 10 26 36 0 42 42 Cosmic_Gene C C G C C TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 5930 16 24573253 24573253 37 AML relapse snv PTPRT splice_region Q162_E3splice_region NM_133170 20-PASFLM PTPRT DONOR SNP Somatic 6 0.187 SQHIGH 19 44 63 1 62 63 Cosmic_Gene C C T C C TARGET-20-PASFLM-04A-01D TARGET-20-PASFLM-14A-01D 11122 20 41419829 41419829 53 AML diagnosis snv CACHD1 missense P70H NM_020925 20-PASFLM CACHD1 MISSENSE SNP Somatic PFAM:PF08399:VWA_N 5 0.164 SQHIGH 4 18 22 0 33 33 Cosmic_Gene C C A C C TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 57685 1 65047939 65047939 17 AML diagnosis snv TNNT2 missense E155Q NM_000364 20-PASFLM TNNT2 MISSENSE SNP Somatic -6 0.057 SQHIGH 7 26 33 1 35 36 C C G C C TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 7139 1 201333452 201333452 17 AML diagnosis snv ADIPOQ-AS1 EXON E1_exon NM_004797 20-PASFLM ADIPOQ INTRON SNP Somatic 10 0.317 SQHIGH 31 33 64 1 58 59 Cosmic_Gene C C T C C TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 9370 3 186569926 186569926 95 AML diagnosis snv ARRDC3 missense N360H NM_020801 20-PASFLM ARRDC3 MISSENSE SNP Somatic 18 0.893 SQHIGH 16 22 38 0 40 40 Cosmic_Gene T T G T T TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 57561 5 90669611 90669611 59 AML diagnosis snv HOXA-AS3 EXON E2_exon NM_006896 20-PASFLM HOXA7|LOC100133311 UTR3|UTR SNP Somatic 3 0.133 SQHIGH 31 38 69 0 38 38 G G A G G TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 3204|100133311 7 27194517 27194517 73 AML diagnosis snv GPAA1 missense E93G NM_003801 20-PASFLM GPAA1 MISSENSE SNP Somatic 16 0.726 SQHIGH 14 17 31 0 42 42 A A G A A TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 8733 8 145138315 145138315 61 AML diagnosis snv OR8J1 missense R122H NM_001005205 20-PASFLM OR8J1 MISSENSE SNP dbsnp.134:rs150618551 Somatic PFAM:PF00001:7tm_1 15 0.649 SQHIGH 14 22 36 1 41 42 Cosmic_Gene G G A G G TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 219477 11 56128087 56128087 44 AML diagnosis snv RBBP6 missense L354V NM_006910 20-PASFLM RBBP6 MISSENSE SNP Somatic 7 0.219 SQHIGH 22 34 56 0 42 42 Cosmic_Gene C C G C C TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 5930 16 24573253 24573253 63 AML diagnosis snv COG8 missense V461M NM_032382 20-PASFLM NIP7|COG8|PDF TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic 16 0.726 SQHIGH 16 16 32 0 22 22 Cosmic_Gene C C T C C TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 51388|84342|64146 16 69368456 69368456 45 AML diagnosis snv DNAH17 missense V3115I NM_173628 20-PASFLM DNAH17 MISSENSE SNP Somatic PFAM:PF12777:MT 3 0.133 SQHIGH 8 25 34 0 45 45 Cosmic_Gene C C T C C TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 8632 17 76456336 76456336 32 AML diagnosis snv PTPRT splice_region Q162_E3splice_region NM_133170 20-PASFLM PTPRT DONOR SNP Somatic 15 0.649 SQHIGH 36 35 71 1 62 63 Cosmic_Gene C C T C C TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 11122 20 41419829 41419829 110 AML diagnosis snv LY9 missense L425P NM_002348 20-PASGCE LY9 MISSENSE SNP Somatic -2 0.094 SQHIGH 7 32 39 0 32 32 Cosmic_Gene T T C T T TARGET-20-PASGCE-09A-01D TARGET-20-PASGCE-14A-01D 4063 1 160786585 160786585 19 AML diagnosis snv ADAMTS4 silent R218R NM_005099 20-PASGCE ADAMTS4|NDUFS2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 5 0.178 SQHIGH 5 23 28 0 54 54 Cosmic_Gene T T G T T TARGET-20-PASGCE-09A-01D TARGET-20-PASGCE-14A-01D 9507|4720 1 161166652 161166652 24 AML diagnosis snv ADAMTS4 missense S217G NM_005099 20-PASGCE ADAMTS4|NDUFS2 MISSENSE|TSS-UPSTREAM SNP Somatic 5 0.178 SQHIGH 4 25 29 0 53 53 Cosmic_Gene T T C T T TARGET-20-PASGCE-09A-01D TARGET-20-PASGCE-14A-01D 9507|4720 1 161166655 161166655 19 AML diagnosis snv PCOLCE2 silent G218G NM_013363 20-PASGCE PCOLCE2 SYNONYMOUS SNP Somatic -6 0.067 SQHIGH 7 31 38 0 25 25 Cosmic_Gene G G A G G TARGET-20-PASGCE-09A-01D TARGET-20-PASGCE-14A-01D 26577 3 142557668 142557668 16 AML diagnosis snv MARCH10 nonsense *800W NM_001288780 20-PASGCE MARCH10 INTRON SNP Somatic -7 0.062 SQHIGH 7 32 39 1 49 50 T T C T T TARGET-20-PASGCE-09A-01D TARGET-20-PASGCE-14A-01D 162333 17 60782868 60782868 19 AML diagnosis mnv PFKP missense N166M NM_002627 20-PASGCE PFKP MISSENSE Sub Somatic -4 0.384 SQHIGH 6 31 37 0 53 53 Cosmic_Gene AC AC TG AC AC TARGET-20-PASGCE-09A-01D TARGET-20-PASGCE-14A-01D 5214 10 3146013 3146014 24 AML relapse snv GPR153 silent G173G NM_207370 20-PASGCE GPR153 SYNONYMOUS SNP Somatic 7 0.215 SQHIGH 10 8 18 0 20 20 G G C G G TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 387509 1 6314045 6314045 40 AML relapse snv NLRP3 missense C958S NM_004895 20-PASGCE NLRP3 MISSENSE SNP Somatic -6 0.066 SQHIGH 6 16 22 1 25 26 Cosmic_Gene G G C G G TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 114548 1 247607985 247607985 15 AML relapse snv IMP4 missense I187T NM_033416 20-PASGCE IMP4|CCDC115 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF04427:Brix -6 0.066 SQHIGH 4 22 26 0 37 37 Cosmic_Gene T T C T T TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 92856|84317 2 131103472 131103472 16 AML relapse snv RAD54L2 missense S187R NM_015106 20-PASGCE RAD54L2 MISSENSE SNP Somatic -2 0.092 SQHIGH 3 16 19 0 44 44 Cosmic_Gene T T G T T TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 23132 3 51664367 51664367 16 AML relapse snv TKT missense R617G NM_001064 20-PASGCE TKT MISSENSE SNP Somatic -8 0.056 SQHIGH 8 45 53 0 55 55 Cosmic_Gene T T C T T TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 7086 3 53259795 53259795 26 AML relapse snv ASIC5 missense E186G NM_017419 20-PASGCE ASIC5 MISSENSE SNP Somatic PFAM:PF00858:ASC -4 0.075 SQHIGH 8 29 37 1 32 33 Cosmic_Gene T T C T T TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 51802 4 156775257 156775257 17 AML relapse snv TSPYL4 silent G51G NM_021648 20-PASGCE TSPYL4|LOC100506496 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 11 0.339 SQHIGH 14 13 27 0 29 29 C C A C C TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 23270|100506496 6 116575019 116575019 55 AML relapse snv KRAS missense K117N NM_033360 20-PASGCE KRAS MISSENSE SNP Somatic 10 0.300 SQHIGH 13 17 30 0 20 20 COSMIC:mut:28519 Cosmic_Gene T T A T T TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 3845 12 25378647 25378647 35 AML relapse snv TMEM8A splice_region K408_E6splice_region NM_021259 20-PASGCE TMEM8A DONOR SNP Somatic -3 0.083 SQHIGH 12 6 18 0 16 16 Cosmic_Gene G G A G G TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 58986 16 426132 426132 45 AML relapse snv AP2A1 splice_region L884_E21splice_region NM_014203 20-PASGCE AP2A1 DONOR SNP Somatic -5 0.070 SQHIGH 7 18 25 1 27 28 Cosmic_Gene A A G A A TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 160 19 50309038 50309038 18 AML diagnosis snv MAST2 missense T1640S NM_015112 20-PASGGK MAST2 MISSENSE SNP Somatic -8 0.059 SQHIGH 5 24 29 0 35 35 Cosmic_Gene A A T A A TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 23139 1 46501259 46501259 18 AML diagnosis snv NRAS missense Q61K NM_002524 20-PASGGK NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic -2 0.103 SQHIGH 5 13 18 0 21 21 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 4893 1 115256530 115256530 18 AML diagnosis snv NOTCH2 silent L1150L NM_024408 20-PASGGK NOTCH2 SYNONYMOUS SNP Somatic -6 0.070 SQHIGH 9 68 77 0 49 49 Cosmic_Gene G G A G G TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 4853 1 120479977 120479977 20 AML diagnosis snv YPEL5 missense E85G NM_001127401 20-PASGGK YPEL5 MISSENSE SNP Somatic PFAM:PF03226:Yippee -6 0.070 SQHIGH 8 28 36 0 25 25 A A G A A TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 51646 2 30381597 30381597 20 AML diagnosis snv GRIA1 splice_region K840_E15splice_region NM_000827 20-PASGGK GRIA1 INTRON SNP Somatic 14 0.599 SQHIGH 30 22 52 0 55 55 Cosmic_Gene G G A G G TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 2890 5 153182059 153182059 121 AML diagnosis snv CLIC5 missense D184N NM_001114086 20-PASGGK CLIC5 MISSENSE SNP dbsnp.134:rs145250435 Somatic 8 0.289 SQHIGH 20 35 55 0 52 52 Cosmic_Gene C C T C C TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 53405 6 45922972 45922972 67 AML diagnosis snv KRAS missense G12V NM_033360 20-PASGGK KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic -33 0.003 3 27 30 0 31 31 COSMIC:mut:520 Cosmic_Gene C C A C C TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 3845 12 25398284 25398284 9 AML diagnosis snv PTPRB missense Q1114H NM_001109754 20-PASGGK PTPRB MISSENSE SNP Somatic -3 0.092 SQHIGH 3 6 9 0 14 14 Cosmic_Gene C C A C C TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 5787 12 70964834 70964834 13 AML diagnosis snv EP400 silent A1868A NM_015409 20-PASGGK EP400|SNORA49 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -8 0.059 SQHIGH 7 44 51 0 38 38 Cosmic_Gene T T A T T TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 57634|677829 12 132514553 132514553 18 AML diagnosis snv RNF17 missense E959D NM_031277 20-PASGGK RNF17 MISSENSE SNP Somatic PFAM:PF00567:TUDOR 5 0.209 SQHIGH 12 28 40 2 45 47 Cosmic_Gene A A T A A TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 56163 13 25418835 25418835 29 AML diagnosis snv RNF113B missense D194E NM_178861 20-PASGGK FARP1|RNF113B INTRON|MISSENSE SNP Somatic PFAM:PF00642:zf-CCCH 17 0.840 SQHIGH 13 19 32 0 42 42 Cosmic_Gene G G T G G TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 10160|140432 13 98828909 98828909 55 AML diagnosis snv DLGAP5 missense A577T NM_014750 20-PASGGK DLGAP5 MISSENSE SNP Somatic PFAM:PF03359:GKAP 10 0.364 SQHIGH 6 8 14 0 25 25 Cosmic_Gene C C T C C TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 9787 14 55625384 55625384 30 AML diagnosis snv SHC4 missense L117P NM_203349 20-PASGGK SHC4 MISSENSE SNP Somatic -4 0.084 SQHIGH 18 45 63 0 39 39 Cosmic_Gene A A G A A TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 399694 15 49254863 49254863 42 AML diagnosis snv SLA2 missense L110S NM_032214 20-PASGGK SLA2 MISSENSE SNP Somatic -4 0.084 SQHIGH 7 40 47 0 35 35 A A G A A TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 84174 20 35261051 35261051 18 AML relapse snv SUCO silent P65P NM_014283 20-PASGMZ SUCO SYNONYMOUS,INTRON SNP Somatic -9 0.053 SQHIGH 4 23 27 0 32 32 Cosmic_Gene T T C T T TARGET-20-PASGMZ-04A-02D TARGET-20-PASGMZ-14A-02D 51430 1 172522417 172522417 14 AML relapse snv NUPL2 missense G221S NM_007342 20-PASGMZ NUPL2 MISSENSE SNP Somatic -6 0.068 SQHIGH 5 21 26 0 18 18 Cosmic_Gene G G A G G TARGET-20-PASGMZ-04A-02D TARGET-20-PASGMZ-14A-02D 11097 7 23239128 23239128 12 AML relapse snv AEBP2 silent G72G NM_153207 20-PASGMZ AEBP2 SYNONYMOUS SNP Somatic -10 0.049 SQHIGH 4 17 21 0 25 25 Cosmic_Gene A A G A A TARGET-20-PASGMZ-04A-02D TARGET-20-PASGMZ-14A-02D 121536 12 19592849 19592849 14 AML relapse snv FLT3 missense D835Y NM_004119 20-PASGMZ FLT3 MISSENSE SNP dbsnp.133:rs121913488 Somatic PFAM:PF03109:ABC1 -31 0.004 5 57 62 0 79 79 COSMIC:mut:783 Cosmic_Gene C C A C C TARGET-20-PASGMZ-04A-02D TARGET-20-PASGMZ-14A-02D 2322 13 28592642 28592642 18 AML diagnosis snv NIPAL3 missense M1V NM_020448 20-PASGMZ NIPAL3|C1orf201 MISSTART|TSS-UPSTREAM SNP Somatic -2 0.104 SQHIGH 9 32 41 0 59 59 Cosmic_Gene A A G A A TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 57185|90529 1 24746038 24746038 37 AML diagnosis snv RIT1 missense G78E NM_006912 20-PASGMZ RIT1 MISSENSE SNP Somatic 6 0.231 SQHIGH 9 38 47 0 39 39 Cosmic_Gene C C T C C TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 6016 1 155874526 155874526 25 AML diagnosis snv ANO7 missense R493H NM_001001891 20-PASGMZ ANO7 MISSENSE SNP Somatic PFAM:PF04547:Anoctamin 1 0.137 SQHIGH 33 48 82 0 81 81 Cosmic_Gene G G A G G TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 50636 2 242149007 242149007 117 AML diagnosis snv TET2 missense F1287S NM_001127208 20-PASGMZ TET2 MISSENSE SNP Somatic PFAM:PF12880:TET_Cys_rich 5 0.202 SQHIGH 13 24 37 0 33 33 Cosmic_Gene T T C T T TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 54790 4 106180832 106180832 41 AML diagnosis snv TIMD4 silent N121N NM_138379 20-PASGMZ TIMD4 SYNONYMOUS SNP Somatic 6 0.231 SQHIGH 20 57 77 0 58 58 Cosmic_Gene G G A G G TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 91937 5 156381463 156381463 54 AML diagnosis snv CYP11B2 missense T34M NM_000498 20-PASGMZ CYP11B2 MISSENSE SNP Somatic 7 0.258 SQHIGH 24 39 63 0 58 58 G G A G G TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 1585 8 143999156 143999156 79 AML diagnosis snv PTPN11 missense A72P NM_002834 20-PASGMZ PTPN11 MISSENSE SNP Somatic -14 0.037 4 36 40 0 44 44 Cosmic_Gene G G C G G TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 5781 12 112888198 112888198 13 AML diagnosis snv CES3 missense G217R NM_024922 20-PASGMZ CES3 TSS-UPSTREAM,MISSENSE SNP Somatic PFAM:PF00135:COesterase 7 0.258 SQHIGH 37 47 84 3 86 89 Cosmic_Gene G G A G G TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 23491 16 66998348 66998348 104 AML diagnosis snv CTAGE1 missense R732C NM_172241 20-PASGMZ CTAGE1 MISSENSE SNP Somatic 3 0.166 SQHIGH 12 32 44 0 51 51 Cosmic_Gene G G A G G TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 64693 18 19995581 19995581 44 AML diagnosis snv ZNF709 missense E277K NM_152601 20-PASGMZ ZNF709 MISSENSE SNP dbsnp.134:rs148352272 Somatic -32 0.004 4 45 49 0 53 53 C C T C C TARGET-20-PASGMZ-09A-01D TARGET-20-PASGMZ-14A-02D 163051 19 12575907 12575907 13 AML relapse snv CNKSR1 missense E5D NM_006314 20-PASGWH CNKSR1 MISSENSE,UTR SNP Somatic 14 0.484 SQHIGH 13 23 36 0 29 29 Cosmic_Gene G G C G G TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 10256 1 26504053 26504053 39 AML relapse snv NRAS missense G13V NM_002524 20-PASGWH NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 14 0.484 SQHIGH 28 31 59 0 46 46 COSMIC:mut:574 Cosmic_Gene C C A C C TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 4893 1 115258744 115258744 86 AML relapse snv THRB missense G111V NM_000461 20-PASGWH THRB MISSENSE SNP Somatic 1 0.091 SQHIGH 19 24 43 1 29 30 Cosmic_Gene C C A C C TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 7068 3 24193933 24193933 42 AML relapse snv SLC7A14 nonsense Y627* NM_020949 20-PASGWH SLC7A14 NONSENSE SNP Somatic PFAM:PF01490:Aa_trans 12 0.353 SQHIGH 16 33 49 0 51 51 Cosmic_Gene G G T G G TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 57709 3 170198190 170198190 56 AML relapse snv TMEM168 silent L52L NM_022484 20-PASGWH TMEM168 SYNONYMOUS SNP Somatic -2 0.069 SQHIGH 6 33 39 0 41 41 Cosmic_Gene G G A G G TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 64418 7 112424727 112424727 20 AML relapse snv UBN2 silent L1126L NM_173569 20-PASGWH UBN2 SYNONYMOUS SNP Somatic -10 0.037 SQHIGH 7 20 27 1 36 37 Cosmic_Gene T T C T T TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 254048 7 138969027 138969027 21 AML relapse snv PPP1R3B silent K58K NM_024607 20-PASGWH PPP1R3B SYNONYMOUS SNP Somatic 3 0.111 SQHIGH 17 31 48 0 44 44 Cosmic_Gene C C T C C TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 79660 8 8998988 8998988 55 AML relapse snv RIMS2 missense G148A NM_001100117 20-PASGWH RIMS2 MISSENSE SNP Somatic 13 0.409 SQHIGH 16 29 45 0 44 44 Cosmic_Gene G G C G G TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 9699 8 104778510 104778510 54 AML relapse snv SMAD9 missense R415W NM_001127217 20-PASGWH SMAD9 MISSENSE SNP Somatic -3 0.063 SQHIGH 8 46 54 0 48 48 G G A G G TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 4093 13 37427573 37427573 23 AML relapse snv KIF26A silent Y792Y NM_015656 20-PASGWH KIF26A SYNONYMOUS SNP Somatic 8 0.207 SQHIGH 8 21 29 1 48 49 Cosmic_Gene C C T C C TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 26153 14 104641501 104641501 29 AML relapse snv TBL3 nonsense W180* NM_006453 20-PASGWH TBL3 NONSENSE SNP Somatic -3 0.063 SQHIGH 6 27 33 0 28 28 G G A G G TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 10607 16 2025004 2025004 17 AML relapse snv RYR1 missense R109W NM_000540 20-PASGWH RYR1 MISSENSE SNP dbsnp.132:rs118192173 Somatic PFAM:PF08709:Ins145_P3_rec 13 0.409 SQHIGH 19 25 44 0 37 37 Cosmic_Gene C C T C C TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 6261 19 38934252 38934252 60 AML relapse snv PTPRT missense A978V NM_133170 20-PASGWH PTPRT MISSENSE SNP Somatic -10 0.037 SQHIGH 6 46 52 0 65 65 Cosmic_Gene G G A G G TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 11122 20 40748583 40748583 22 AML relapse snv SIM2 silent H270H NM_005069 20-PASGWH SIM2 SYNONYMOUS SNP dbsnp.134:rs149786959 Somatic PFAM:PF08447:PAS_3 13 0.409 SQHIGH 25 21 46 0 48 48 Cosmic_Gene C C T C C TARGET-20-PASGWH-04A-02D TARGET-20-PASGWH-14A-02D 6493 21 38103412 38103412 98 AML diagnosis snv CNKSR1 missense E5D NM_006314 20-PASGWH CNKSR1 MISSENSE,UTR SNP Somatic 13 0.476 SQHIGH 13 22 35 0 29 29 Cosmic_Gene G G C G G TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 10256 1 26504053 26504053 39 AML diagnosis snv NRAS missense G13V NM_002524 20-PASGWH NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 12 0.417 SQHIGH 14 18 32 0 46 46 COSMIC:mut:574 Cosmic_Gene C C A C C TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 4893 1 115258744 115258744 63 AML diagnosis snv LAMC2 silent L1122L NM_005562 20-PASGWH LAMC2 SYNONYMOUS SNP Somatic 1 0.127 SQHIGH 5 30 35 0 45 45 Cosmic_Gene A A G A A TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 3918 1 183212319 183212319 19 AML diagnosis snv SCN2A silent K454K NM_021007 20-PASGWH SCN2A SYNONYMOUS SNP Somatic 11 0.364 SQHIGH 6 25 31 1 41 42 Cosmic_Gene A A G A A TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 6326 2 166170597 166170597 17 AML diagnosis snv THRB missense G111V NM_000461 20-PASGWH THRB MISSENSE SNP Somatic 1 0.127 SQHIGH 15 19 34 1 29 30 Cosmic_Gene C C A C C TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 7068 3 24193933 24193933 39 AML diagnosis snv SLC7A14 nonsense Y627* NM_020949 20-PASGWH SLC7A14 NONSENSE SNP Somatic PFAM:PF01490:Aa_trans 18 0.873 SQHIGH 17 15 32 0 51 51 Cosmic_Gene G G T G G TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 57709 3 170198190 170198190 86 AML diagnosis snv MATR3 missense M1V NM_199189 20-PASGWH MATR3 MISSTART,INTRON SNP Somatic -2 0.099 SQHIGH 4 19 23 0 31 31 Cosmic_Gene A A G A A TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 9782 5 138643105 138643105 16 AML diagnosis snv PPP1R3B silent K58K NM_024607 20-PASGWH PPP1R3B SYNONYMOUS SNP Somatic 3 0.151 SQHIGH 15 17 32 0 44 44 Cosmic_Gene C C T C C TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 79660 8 8998988 8998988 67 AML diagnosis snv RIMS2 missense G148A NM_001100117 20-PASGWH RIMS2 MISSENSE SNP Somatic 10 0.324 SQHIGH 8 11 19 0 44 44 Cosmic_Gene G G C G G TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 9699 8 104778510 104778510 47 AML diagnosis snv BTBD18 missense P134T NM_001145101 20-PASGWH TMX2-CTNND1|BTBD18 INTRON|MISSENSE SNP Somatic -6 0.073 SQHIGH 8 35 43 1 45 46 G G T G G TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 100528016|643376 11 57513345 57513345 19 AML diagnosis snv GPC5 missense V466I NM_004466 20-PASGWH GPC5 MISSENSE SNP Somatic PFAM:PF01153:Glypican -5 0.078 SQHIGH 5 19 24 1 38 39 Cosmic_Gene G G A G G TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 2262 13 92560306 92560306 16 AML diagnosis snv KIF26A silent Y792Y NM_015656 20-PASGWH KIF26A SYNONYMOUS SNP Somatic 8 0.259 SQHIGH 14 30 44 1 48 49 Cosmic_Gene C C T C C TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 26153 14 104641501 104641501 41 AML diagnosis snv SMG1 missense S753C NM_015092 20-PASGWH SMG1 MISSENSE SNP Somatic 0 0.118 SQHIGH 8 27 35 0 49 49 Cosmic_Gene G G C G G TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 23049 16 18882730 18882730 33 AML diagnosis snv GSG2 missense Q24H NM_031965 20-PASGWH GSG2|ITGAE MISSENSE|INTRON SNP Somatic 3 0.151 SQHIGH 8 23 31 0 33 33 Cosmic_Gene G G T G G TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 83903|3682 17 3627301 3627301 27 AML diagnosis snv RYR1 missense R109W NM_000540 20-PASGWH RYR1 MISSENSE SNP dbsnp.132:rs118192173 Somatic PFAM:PF08709:Ins145_P3_rec 6 0.207 SQHIGH 14 25 39 0 37 37 Cosmic_Gene C C T C C TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 6261 19 38934252 38934252 47 AML diagnosis snv SIM2 silent H270H NM_005069 20-PASGWH SIM2 SYNONYMOUS SNP dbsnp.134:rs149786959 Somatic PFAM:PF08447:PAS_3 14 0.555 SQHIGH 25 24 49 0 48 48 Cosmic_Gene C C T C C TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 6493 21 38103412 38103412 92 AML diagnosis complex RNASEH2A frameshift D9_N10fs NM_006397 20-PASGWH PRDX2|RNASEH2A TSS-UPSTREAM|FRAMESHIFT Sub Somatic -9 0.260 SQHIGH 10 55 65 0 85 85 Cosmic_Gene ACAAT ACAAT AGAGAG ACAAT ACAAT TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 7001|10535 19 12917513 12917517 38 AML diagnosis snv EPHA10 silent T723T NM_001099439 20-PASHBI EPHA10 SYNONYMOUS SNP Somatic 17 0.791 SQHIGH 13 19 32 0 39 39 Cosmic_Gene G G C G G TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 284656 1 38186494 38186494 52 AML diagnosis snv MARCH1 missense R48Q NM_001166373 20-PASHBI MARCH1 MISSENSE SNP Somatic -1 0.103 SQHIGH 17 16 33 1 24 25 Cosmic_Gene C C T C C TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 55016 4 164621984 164621984 42 AML diagnosis snv RASGRF2 silent A964A NM_006909 20-PASHBI RASGRF2 SYNONYMOUS SNP Somatic PFAM:PF00618:RasGEF_N 2 0.138 SQHIGH 6 18 24 0 27 27 Cosmic_Gene C C T C C TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 5924 5 80497247 80497247 21 AML diagnosis snv NOTCH4 splice Q842_E16splice NM_004557 20-PASHBI NOTCH4 DISRUPT SNP Somatic 11 0.349 SQHIGH 14 17 31 0 43 43 Cosmic_Gene C C T C C TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 4855 6 32180600 32180600 62 AML diagnosis snv POM121L12 silent D27D NM_182595 20-PASHBI POM121L12 SYNONYMOUS SNP Somatic 17 0.791 SQHIGH 10 13 23 0 28 28 C C T C C TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 285877 7 53103445 53103445 40 AML diagnosis snv ZFHX4 silent G556G NM_024721 20-PASHBI ZFHX4 SYNONYMOUS SNP Somatic 10 0.312 SQHIGH 19 21 40 0 29 29 Cosmic_Gene C C A C C TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 79776 8 77617991 77617991 55 AML diagnosis snv MLLT10 missense R688S NM_004641 20-PASHBI MLLT10 MISSENSE SNP Somatic -5 0.073 SQHIGH 6 19 25 0 23 23 Cosmic_Gene C C A C C TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 8028 10 22016808 22016808 18 AML diagnosis snv CCND2 nonsense Q277* NM_001759 20-PASHBI CCND2 NONSENSE SNP Somatic -9 0.053 SQHIGH 5 12 17 0 31 31 Cosmic_Gene C C T C C TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 894 12 4409134 4409134 24 AML diagnosis snv SOX5 missense R235C NM_006940 20-PASHBI SOX5 MISSENSE SNP Somatic -4 0.079 SQHIGH 5 16 21 0 25 25 Cosmic_Gene G G A G G TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 6660 12 23893839 23893839 18 AML diagnosis snv ZNF764 missense D53E NM_033410 20-PASHBI ZNF764 MISSENSE SNP Somatic 17 0.791 SQHIGH 23 26 49 0 37 37 Cosmic_Gene G G C G G TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 92595 16 30569345 30569345 69 AML diagnosis snv TBX4 silent L455L NM_018488 20-PASHBI TBX4 SYNONYMOUS SNP Somatic 6 0.203 SQHIGH 8 30 38 1 43 44 Cosmic_Gene G G T G G TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 9496 17 59560604 59560604 21 AML diagnosis snv DAZAP1 nonsense R406* NM_018959 20-PASHBI RPS15|DAZAP1 TSS-UPSTREAM|UTR3,NONSENSE SNP Somatic -2 0.095 SQHIGH 6 23 29 0 21 21 Cosmic_Gene C C T C C TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 6209|26528 19 1434903 1434903 15 AML diagnosis snv ZBTB7A nonsense R399* NM_015898 20-PASHBI ZBTB7A NONSENSE SNP Somatic -4 0.079 SQHIGH 8 15 23 0 10 10 Cosmic_Gene G G A G G TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 51341 19 4054036 4054036 15 AML diagnosis complex FXN splice_region S56_E2splice_region NM_000144 20-PASHBI FXN ACCEPTOR Sub Somatic -3 0.455 SQHIGH 25 33 58 0 38 38 TT TT TCCTC TT TT TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 2395 9 71661295 71661296 66 AML diagnosis snv UPK1B splice_region A90_E3splice_region NM_006952 20-PASHHH UPK1B INTRON SNP Somatic -9 0.051 SQHIGH 6 24 30 1 35 36 T T C T T TARGET-20-PASHHH-09A-01D TARGET-20-PASHHH-14A-02D 7348 3 118906831 118906831 15 AML diagnosis snv PRKAR1B missense S71P NM_001164761 20-PASHHH PRKAR1B MISSENSE SNP Somatic -9 0.051 SQHIGH 6 33 39 0 32 32 A A G A A TARGET-20-PASHHH-09A-01D TARGET-20-PASHHH-14A-02D 5575 7 720330 720330 16 AML diagnosis snv ZNF667 missense R454H NM_022103 20-PASHHH ZNF667 MISSENSE,UTR SNP Somatic -35 0.002 4 26 30 0 45 45 Cosmic_Gene C C T C C TARGET-20-PASHHH-09A-01D TARGET-20-PASHHH-14A-02D 63934 19 56953003 56953003 16 AML diagnosis mnv MAMDC4 missense R510_L511>RV NM_206920 20-PASHHH MAMDC4 MISSENSE Sub Somatic PFAM:PF00629:MAM -9 0.281 SQHIGH 5 12 17 0 21 21 Cosmic_Gene GC GC TG GC GC TARGET-20-PASHHH-09A-01D TARGET-20-PASHHH-14A-02D 158056 9 139750242 139750243 19 AML diagnosis snv NSD1 missense H1917P NM_172349 20-PASHLE NSD1 MISSENSE SNP Somatic -10 0.052 SQHIGH 4 28 32 0 34 34 Cosmic_Gene A A C A A TARGET-20-PASHLE-03A-02D TARGET-20-PASHLE-14A-02D 64324 5 176720926 176720926 13 AML diagnosis snv VSX2 missense E261Q NM_182894 20-PASHLE VSX2 MISSENSE SNP Somatic -7 0.068 SQHIGH 5 25 30 0 27 27 Cosmic_Gene G G C G G TARGET-20-PASHLE-03A-02D TARGET-20-PASHLE-14A-02D 338917 14 74727317 74727317 15 AML relapse snv SARS missense R390C NM_006513 20-PASHYZ SARS MISSENSE,UTR SNP Somatic 12 0.475 SQHIGH 18 31 49 0 54 54 Cosmic_Gene C C T C C TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 6301 1 109779081 109779081 67 AML relapse snv HTRA2 missense Y451C NM_013247 20-PASHYZ LOXL3|AUP1|HTRA2 UTR3|TSS-UPSTREAM|MISSENSE SNP Somatic 16 0.762 SQHIGH 14 21 35 0 37 37 Cosmic_Gene A A G A A TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 84695|550|27429 2 74760087 74760087 51 AML relapse snv FAT1 missense G4182V NM_005245 20-PASHYZ FAT1 MISSENSE SNP Somatic 5 0.197 SQHIGH 17 41 58 0 74 74 Cosmic_Gene C C A C C TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 2195 4 187518149 187518149 67 AML relapse snv MEF2C missense D105N NM_002397 20-PASHYZ MEF2C INTRON,MISSENSE SNP Somatic PFAM:PF12347:HJURP_C -4 0.083 SQHIGH 5 7 12 0 17 17 Cosmic_Gene C C T C C TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 4208 5 88057091 88057091 22 AML relapse snv SDK1 splice_region E1475_E29splice_region NM_152744 20-PASHYZ SDK1 INTRON SNP Somatic 1 0.132 SQHIGH 18 49 67 1 45 46 Cosmic_Gene C C A C C TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 221935 7 4185555 4185555 36 AML relapse snv KCNQ1OT1 EXON E11_exon NM_000218 20-PASHYZ KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 9 0.330 SQHIGH 12 30 42 0 43 43 Cosmic_Gene C C T C C TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 3784|10984 11 2696500 2696500 41 AML relapse snv C14orf93 missense E484D NM_021944 20-PASHYZ C14orf93|JUB MISSENSE|TSS-UPSTREAM SNP Somatic 1 0.132 SQHIGH 5 32 37 0 33 33 Cosmic_Gene T T G T T TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 60686|84962 14 23456589 23456589 14 AML relapse snv FAM63B silent L459L NM_001040450 20-PASHYZ FAM63B SYNONYMOUS SNP Somatic -5 0.077 SQHIGH 7 23 30 0 48 48 Cosmic_Gene C C T C C TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 54629 15 59139502 59139502 31 AML relapse snv TEX13A nonsense R286* NM_031274 20-PASHYZ TEX13A|IL1RAPL2 NONSENSE|INTRON SNP Somatic 10 0.370 SQHIGH 14 27 41 0 54 54 Cosmic_Gene T T A T T TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 56157|26280 X 104464020 104464020 58 AML relapse mnv USP51 missense S469_G470>DS NM_201286 20-PASHYZ USP51 MISSENSE Sub Somatic PFAM:PF00443:UCH -6 0.313 SQHIGH 8 26 34 1 39 40 Cosmic_Gene CACT CACT TATC CACT CACT TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 158880 X 55513965 55513968 22 AML diagnosis snv SARS missense R390C NM_006513 20-PASHYZ SARS MISSENSE,UTR SNP Somatic 16 0.755 SQHIGH 30 34 64 0 54 54 Cosmic_Gene C C T C C TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 6301 1 109779081 109779081 98 AML diagnosis snv HTRA2 missense Y451C NM_013247 20-PASHYZ LOXL3|AUP1|HTRA2 UTR3|TSS-UPSTREAM|MISSENSE SNP Somatic 6 0.216 SQHIGH 17 33 50 0 37 37 Cosmic_Gene A A G A A TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 84695|550|27429 2 74760087 74760087 47 AML diagnosis snv SLC41A3 missense A465G NM_001008485 20-PASHYZ SLC41A3 UTR3,MISSENSE SNP Somatic -5 0.075 SQHIGH 5 27 32 0 22 22 G G C G G TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 54946 3 125725380 125725380 12 AML diagnosis snv FAT1 missense G4182V NM_005245 20-PASHYZ FAT1 MISSENSE SNP Somatic -7 0.066 SQHIGH 8 59 67 0 74 74 Cosmic_Gene C C A C C TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 2195 4 187518149 187518149 27 AML diagnosis snv MEF2C missense D105N NM_002397 20-PASHYZ MEF2C INTRON,MISSENSE SNP Somatic PFAM:PF12347:HJURP_C 2 0.135 SQHIGH 12 12 24 0 17 17 Cosmic_Gene C C T C C TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 4208 5 88057091 88057091 35 AML diagnosis snv TM2D2 nonsense Y10* NM_078473 20-PASHYZ TM2D2|ADAM9 INTRON,UTR5,NONSENSE|TSS-UPSTREAM SNP Somatic -4 0.080 SQHIGH 8 48 56 0 36 36 Cosmic_Gene G G C G G TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 83877|8754 8 38853929 38853929 18 AML diagnosis snv KCNQ1OT1 EXON E11_exon NM_000218 20-PASHYZ KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 14 0.593 SQHIGH 20 23 43 0 43 43 Cosmic_Gene C C T C C TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 3784|10984 11 2696500 2696500 73 AML diagnosis snv FAM186A silent A1596A NM_001145475 20-PASHYZ FAM186A SYNONYMOUS SNP Somatic PFAM:PF03157:Glutenin_hmw -2 0.094 SQHIGH 6 29 35 0 36 36 C C G C C TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 121006 12 50745827 50745827 19 AML diagnosis snv FAM63B silent L459L NM_001040450 20-PASHYZ FAM63B SYNONYMOUS SNP Somatic 14 0.593 SQHIGH 18 23 41 0 48 48 Cosmic_Gene C C T C C TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 54629 15 59139502 59139502 72 AML diagnosis snv ZNF18 missense E19K NM_144680 20-PASHYZ ZNF18 MISSENSE SNP Somatic -4 0.080 SQHIGH 11 53 64 0 47 47 Cosmic_Gene C C T C C TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 7566 17 11896092 11896092 28 AML diagnosis snv TEX13A nonsense R286* NM_031274 20-PASHYZ TEX13A|IL1RAPL2 NONSENSE|INTRON SNP Somatic 14 0.593 SQHIGH 14 21 35 0 54 54 Cosmic_Gene T T A T T TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 56157|26280 X 104464020 104464020 65 AML diagnosis snv C2orf91 missense G29R NM_001242815 20-PASIBG C2orf91 MISSENSE SNP Somatic 7 0.250 SQHIGH 19 32 51 0 53 53 C C T C C TARGET-20-PASIBG-09A-01D TARGET-20-PASIBG-14A-01D 400950 2 42180351 42180351 Somatic Illumina 68 119968 61940 181925 161231 79 161319 AML diagnosis snv P2RY14 silent Y49Y NM_001081455 20-PASIBG P2RY14|MED12L SYNONYMOUS|INTRON SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 9 0.325 SQHIGH 38 37 75 1 92 93 Cosmic_Gene G G A G G TARGET-20-PASIBG-09A-01D TARGET-20-PASIBG-14A-01D 9934|116931 3 150931958 150931958 Somatic Illumina 149 47162 30058 77238 62899 64 62972 AML diagnosis snv ANK2 silent N392N NM_001148 20-PASIBG ANK2 SYNONYMOUS SNP Somatic PFAM:PF12796:Ank_2 12 0.487 SQHIGH 15 30 45 0 32 32 Cosmic_Gene C C T C C TARGET-20-PASIBG-09A-01D TARGET-20-PASIBG-14A-01D 287 4 114177076 114177076 Somatic Illumina 40 89264 57621 146895 110583 53 110639 AML diagnosis snv TBC1D30 missense F414Y NM_015279 20-PASIBG TBC1D30 MISSENSE SNP Somatic 15 0.723 SQHIGH 14 21 35 0 34 34 Cosmic_Gene T T A T T TARGET-20-PASIBG-09A-01D TARGET-20-PASIBG-14A-01D 23329 12 65260633 65260633 Somatic Illumina 48 11469 8571 20045 25405 25 25434 AML diagnosis snv PTPN11 missense E69K NM_002834 20-PASIBG PTPN11 MISSENSE SNP Somatic 7 0.250 SQHIGH 14 29 43 0 48 48 COSMIC:mut:13013 Cosmic_Gene G G A G G TARGET-20-PASIBG-09A-01D TARGET-20-PASIBG-14A-01D 5781 12 112888189 112888189 Somatic Illumina 51 35772 16465 52239 51204 10 51217 AML diagnosis snv ATP8B3 nonsense Q730* NM_138813 20-PASIBG ATP8B3 NONSENSE SNP Somatic -4 0.061 SQHIGH 7 31 38 1 42 43 G G A G G TARGET-20-PASIBG-09A-01D TARGET-20-PASIBG-14A-01D 148229 19 1792002 1792002 Somatic Illumina 17 12315 4786 17101 21697 194 21892 AML diagnosis snv CCDC94 missense A37T NM_018074 20-PASIBG CCDC94 MISSENSE SNP Somatic PFAM:PF04502:DUF572 11 0.419 SQHIGH 44 28 72 2 49 51 G G A G G TARGET-20-PASIBG-09A-01D TARGET-20-PASIBG-14A-01D 55702 19 4249309 4249309 Somatic Illumina 112 65624 83756 149529 91685 50 91890 AML relapse snv RAB44 splice R894_E11splice NM_001257357 20-PASIEJ RAB44 ACCEPTOR SNP Somatic -2 0.088 SQHIGH 11 56 67 0 62 62 C C T C C TARGET-20-PASIEJ-04A-01D TARGET-20-PASIEJ-14A-02D 401258 6 36695351 36695351 33 AML relapse snv SLC6A12 missense R570C NM_003044 20-PASIEJ SLC6A12 MISSENSE SNP Somatic 2 0.131 SQHIGH 14 53 67 2 52 54 Cosmic_Gene G G A G G TARGET-20-PASIEJ-04A-01D TARGET-20-PASIEJ-14A-02D 6539 12 300371 300371 23 AML diagnosis snv RAB44 splice R894_E11splice NM_001257357 20-PASIEJ RAB44 ACCEPTOR SNP Somatic -3 0.077 SQHIGH 13 52 65 0 62 62 C C T C C TARGET-20-PASIEJ-09A-02D TARGET-20-PASIEJ-14A-02D 401258 6 36695351 36695351 41 AML diagnosis snv ACTR8 silent G474G NM_022899 20-PASIEP ACTR8 SYNONYMOUS SNP Somatic 14 0.521 SQHIGH 14 14 28 0 29 29 Cosmic_Gene C C T C C TARGET-20-PASIEP-09A-05D TARGET-20-PASIEP-14A-01D 93973 3 53905404 53905404 53 AML diagnosis snv STAU2-AS1 EXON E13_exon NM_001164380 20-PASIEP STAU2|LOC100128126 INTRON|UTR SNP Somatic 1 0.120 SQHIGH 15 45 60 0 60 60 G G A G G TARGET-20-PASIEP-09A-05D TARGET-20-PASIEP-14A-01D 27067|100128126 8 74351291 74351291 49 AML diagnosis snv RUSC2 missense T799P NM_001135999 20-PASIEP RUSC2 MISSENSE SNP Somatic -4 0.076 SQHIGH 5 49 54 0 41 41 Cosmic_Gene A A C A A TARGET-20-PASIEP-09A-05D TARGET-20-PASIEP-14A-01D 9853 9 35555437 35555437 13 AML diagnosis snv KREMEN1 missense V296I NM_032045 20-PASIEP KREMEN1 MISSENSE SNP Somatic 7 0.219 SQHIGH 24 38 62 1 57 58 Cosmic_Gene G G A G G TARGET-20-PASIEP-09A-05D TARGET-20-PASIEP-14A-01D 83999 22 29533584 29533584 69 AML relapse snv RERE silent T466T NM_012102 20-PASINN RERE SYNONYMOUS,UTR5 SNP dbsnp.134:rs139017986 Somatic 6 0.220 SQHIGH 19 39 58 0 65 65 Cosmic_Gene G G A G G TARGET-20-PASINN-04A-02D TARGET-20-PASINN-14A-01D 473 1 8425921 8425921 70 AML relapse snv EVC silent S158S NM_153717 20-PASINN EVC SYNONYMOUS SNP Somatic 7 0.247 SQHIGH 12 31 43 0 38 38 Cosmic_Gene C C A C C TARGET-20-PASINN-04A-02D TARGET-20-PASINN-14A-01D 2121 4 5733241 5733241 37 AML relapse snv SLC5A11 missense R409L NM_052944 20-PASINN SLC5A11 MISSENSE SNP Somatic PFAM:PF00474:SSF 5 0.191 SQHIGH 20 43 63 1 77 78 Cosmic_Gene G G T G G TARGET-20-PASINN-04A-02D TARGET-20-PASINN-14A-01D 115584 16 24918457 24918457 67 AML relapse snv LAMA1 missense T2617M NM_005559 20-PASINN LAMA1 MISSENSE SNP Somatic 11 0.393 SQHIGH 13 30 43 0 38 38 Cosmic_Gene G G A G G TARGET-20-PASINN-04A-02D TARGET-20-PASINN-14A-01D 284217 18 6958590 6958590 40 AML diagnosis snv RERE silent T466T NM_012102 20-PASINN RERE SYNONYMOUS,UTR5 SNP dbsnp.134:rs139017986 Somatic 2 0.138 SQHIGH 37 54 91 0 65 65 Cosmic_Gene G G A G G TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 473 1 8425921 8425921 104 AML diagnosis snv EVC silent S158S NM_153717 20-PASINN EVC SYNONYMOUS SNP Somatic 14 0.581 SQHIGH 27 24 51 0 38 38 Cosmic_Gene C C A C C TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 2121 4 5733241 5733241 83 AML diagnosis snv SLIT2 missense A706V NM_004787 20-PASINN SLIT2 MISSENSE SNP Somatic -4 0.079 SQHIGH 8 49 57 0 53 53 Cosmic_Gene C C T C C TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 9353 4 20543216 20543216 24 AML diagnosis snv SLC17A2 missense S204P NM_005835 20-PASINN SLC17A2 MISSENSE SNP Somatic -10 0.049 SQHIGH 11 38 49 1 28 29 Cosmic_Gene A A G A A TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 10246 6 25918754 25918754 17 AML diagnosis snv NAV2 missense R1165Q NM_182964 20-PASINN NAV2 MISSENSE SNP dbsnp.134:rs141834826 Somatic -2 0.095 SQHIGH 7 45 52 0 52 52 Cosmic_Gene G G A G G TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 89797 11 20066808 20066808 22 AML diagnosis snv PPP6R3 missense P844R NM_001164162 20-PASINN PPP6R3 MISSENSE SNP Somatic -8 0.057 SQHIGH 7 33 40 0 17 17 Cosmic_Gene C C G C C TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 55291 11 68377470 68377470 12 AML diagnosis snv C11orf53 missense P88L NM_198498 20-PASINN C11orf53 MISSENSE SNP Somatic 7 0.239 SQHIGH 32 44 76 0 57 57 C C T C C TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 341032 11 111155056 111155056 93 AML diagnosis snv C16orf59 silent L377L NM_025108 20-PASINN C16orf59 SYNONYMOUS SNP Somatic -7 0.062 SQHIGH 5 48 53 0 45 45 C C T C C TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 80178 16 2514204 2514204 14 AML diagnosis snv SLC5A11 missense R409L NM_052944 20-PASINN SLC5A11 MISSENSE SNP Somatic PFAM:PF00474:SSF 6 0.213 SQHIGH 31 43 74 1 77 78 Cosmic_Gene G G T G G TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 115584 16 24918457 24918457 101 AML diagnosis snv LAMA1 missense T2617M NM_005559 20-PASINN LAMA1 MISSENSE SNP Somatic 14 0.581 SQHIGH 19 30 49 0 38 38 Cosmic_Gene G G A G G TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 284217 18 6958590 6958590 56 AML diagnosis snv NETO1 nonsense Y237* NM_001201465 20-PASINN NETO1 NONSENSE SNP Somatic -3 0.086 SQHIGH 5 46 51 0 41 41 Cosmic_Gene A A C A A TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 81832 18 70451070 70451070 13 AML diagnosis snv BCOR missense N1425S NM_017745 20-PASINN BCOR MISSENSE SNP Somatic 18 0.904 SQHIGH 22 5 27 0 19 19 Cosmic_Gene T C T TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 54880 X 39921444 39921444 80 AML relapse snv RAB40B silent T168T NM_006822 20-PASJGZ RAB40B SYNONYMOUS SNP Somatic 2 0.146 SQHIGH 5 28 33 0 31 31 Cosmic_Gene C C T C C TARGET-20-PASJGZ-04A-02D TARGET-20-PASJGZ-14A-01D 10966 17 80616428 80616428 15 AML diagnosis snv TTN missense K4604E NM_133379 20-PASJGZ TTN INTRON,MISSENSE SNP Somatic -8 0.058 SQHIGH 5 18 23 0 17 17 Cosmic_Gene T T C T T TARGET-20-PASJGZ-09A-02D TARGET-20-PASJGZ-14A-01D 7273 2 179613317 179613317 13 AML diagnosis snv WWC1 nonsense Q297* NM_001161661 20-PASJGZ WWC1 NONSENSE SNP Somatic -8 0.058 SQHIGH 8 41 49 0 28 28 Cosmic_Gene C C T C C TARGET-20-PASJGZ-09A-02D TARGET-20-PASJGZ-14A-01D 23286 5 167836948 167836948 17 AML diagnosis snv PUS7 missense T432S NM_019042 20-PASJGZ PUS7 MISSENSE SNP Somatic 2 0.149 SQHIGH 3 15 18 0 31 31 Cosmic_Gene G G C G G TARGET-20-PASJGZ-09A-02D TARGET-20-PASJGZ-14A-01D 54517 7 105111238 105111238 14 AML diagnosis snv PTPRT silent Y412Y NM_133170 20-PASJGZ PTPRT SYNONYMOUS SNP Somatic PFAM:PF00041:fn3 -4 0.082 SQHIGH 5 25 30 0 29 29 Cosmic_Gene G G A G G TARGET-20-PASJGZ-09A-02D TARGET-20-PASJGZ-14A-01D 11122 20 41101120 41101120 15 AML relapse snv ZFHX2 silent V1255V NM_033400 20-PASJIM ZFHX2 SYNONYMOUS SNP Somatic -10 0.054 SQHIGH 5 41 46 0 44 44 G G C G G TARGET-20-PASJIM-04A-01D TARGET-20-PASJIM-10A-02D 85446 14 23995386 23995386 15 AML relapse snv MYO9A missense R1114H NM_006901 20-PASJIM MYO9A MISSENSE SNP Somatic 7 0.252 SQHIGH 4 9 13 0 22 22 Cosmic_Gene C C T C C TARGET-20-PASJIM-04A-01D TARGET-20-PASJIM-10A-02D 4649 15 72192157 72192157 19 AML diagnosis snv HRNR silent H322H NM_001009931 20-PASJIM HRNR SYNONYMOUS SNP Somatic -3 0.095 SQHIGH 13 55 69 1 64 65 Cosmic_Gene G G A G G TARGET-20-PASJIM-09A-02D TARGET-20-PASJIM-10A-02D 388697 1 152193139 152193139 32 AML diagnosis snv SMIM4 silent Q6Q NM_001124767 20-PASJIM C3orf78|NT5DC2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 5 0.200 SQHIGH 19 68 87 0 71 71 G G A G G TARGET-20-PASJIM-09A-02D TARGET-20-PASJIM-10A-02D 440957|64943 3 52570789 52570789 54 AML diagnosis snv TRPC3 silent N316N NM_001130698 20-PASJIM TRPC3 SYNONYMOUS SNP Somatic PFAM:PF08344:TRP_2 -9 0.059 SQHIGH 7 30 37 0 30 30 Cosmic_Gene G G A G G TARGET-20-PASJIM-09A-02D TARGET-20-PASJIM-10A-02D 7222 4 122853465 122853465 19 AML diagnosis snv EPHA7 missense L177F NM_004440 20-PASJIM EPHA7 MISSENSE SNP Somatic -3 0.095 SQHIGH 8 49 57 0 65 65 Cosmic_Gene C C G C C TARGET-20-PASJIM-09A-02D TARGET-20-PASJIM-10A-02D 2045 6 94120520 94120520 28 AML diagnosis snv CDK8 missense N390K NM_001260 20-PASJIM CDK8 MISSENSE SNP Somatic 0 0.124 SQHIGH 4 18 22 0 33 33 Cosmic_Gene T T A T T TARGET-20-PASJIM-09A-02D TARGET-20-PASJIM-10A-02D 1024 13 26975662 26975662 17 AML diagnosis snv ATP10A missense C233W NM_024490 20-PASJIM ATP10A MISSENSE SNP Somatic PFAM:PF00122:E1-E2_ATPase -6 0.075 SQHIGH 8 51 59 0 61 61 Cosmic_Gene G G C G G TARGET-20-PASJIM-09A-02D TARGET-20-PASJIM-10A-02D 57194 15 25981244 25981244 26 AML diagnosis mnv SYNE1 missense S7506_R7507>ST NM_182961 20-PASJIM SYNE1 MISSENSE Sub Somatic -26 0.119 3 8 11 0 21 21 Cosmic_Gene CGA CGA GTG CGA CGA TARGET-20-PASJIM-09A-02D TARGET-20-PASJIM-10A-02D 23345 6 152532698 152532700 15 AML diagnosis snv MACF1 splice_region Q1979_E41splice_region NM_012090 20-PASJTM MACF1 ACCEPTOR SNP Somatic -3 0.087 SQHIGH 6 21 27 1 44 45 Cosmic_Gene A A G A A TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 23499 1 39824807 39824807 20 AML diagnosis snv DST missense P2440L NM_001723 20-PASJTM DST INTRON,MISSENSE SNP Somatic 0 0.115 SQHIGH 4 31 35 0 40 40 Cosmic_Gene G G A G G TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 667 6 56480946 56480946 14 AML diagnosis snv CSMD3 splice S1454_E27splice NM_198123 20-PASJTM CSMD3 ACCEPTOR SNP Somatic -1 0.105 SQHIGH 4 8 12 0 19 19 Cosmic_Gene G G T G G TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 114788 8 113563105 113563105 18 AML diagnosis snv RRAGA missense E207D NM_006570 20-PASJTM RRAGA MISSENSE SNP Somatic -7 0.063 SQHIGH 4 31 35 0 44 44 A A T A A TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 10670 9 19050278 19050278 15 AML diagnosis snv HSPA5 silent V415V NM_005347 20-PASJTM HSPA5 SYNONYMOUS SNP Somatic PFAM:PF00012:HSP70 -7 0.063 SQHIGH 6 34 40 0 43 43 Cosmic_Gene T T G T T TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 3309 9 128000577 128000577 20 AML diagnosis snv EP400 silent A1868A NM_015409 20-PASJTM EP400|SNORA49 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -2 0.095 SQHIGH 6 41 48 0 42 42 Cosmic_Gene T T A T T TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 57634|677829 12 132514553 132514553 17 AML diagnosis snv MGAT5B missense E92A NM_144677 20-PASJTM MGAT5B MISSENSE SNP Somatic -7 0.063 SQHIGH 7 15 22 0 21 21 Cosmic_Gene A A C A A TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 146664 17 74878326 74878326 23 AML diagnosis snv SGSM1 splice_region C223_E7splice_region NM_001039948 20-PASJTM SGSM1 DONOR SNP Somatic -9 0.053 SQHIGH 6 30 36 1 42 43 Cosmic_Gene A A G A A TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 129049 22 25251401 25251401 15 AML diagnosis complex DSG1-AS1 EXON E12_exon NM_001942 20-PASJTM DSG1 INTRON Sub Somatic -10 0.285 SQHIGH 8 23 31 0 25 25 Cosmic_Gene GTT GTT GA GTT GTT TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 1828 18 28923643 28923645 23 AML diagnosis snv LAMB3 silent P641P NM_000228 20-PASLSD MIR4260|LAMB3 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 0 0.141 SQHIGH 18 15 33 0 24 24 Cosmic_Gene G G A G G TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 100422894|3914 1 209799046 209799046 55 AML diagnosis snv EML4 silent D136D NM_019063 20-PASLSD EML4 SYNONYMOUS,INTRON SNP Somatic 4 0.212 SQHIGH 18 20 38 0 34 34 Cosmic_Gene T T C T T TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 27436 2 42488330 42488330 61 AML diagnosis snv RAB11FIP5 missense I647T NM_015470 20-PASLSD RAB11FIP5|SFXN5 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF09457:RBD-FIP -4 0.093 SQHIGH 9 21 30 0 40 40 Cosmic_Gene A A G A A TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 26056|94097 2 73302671 73302671 37 AML diagnosis snv LRP1B missense L1430I NM_018557 20-PASLSD LRP1B MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b 7 0.292 SQHIGH 8 9 17 0 15 15 Cosmic_Gene G G T G G TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 53353 2 141625714 141625714 26 AML diagnosis snv CLIP2 missense A104S NM_003388 20-PASLSD CLIP2 MISSENSE SNP Somatic PFAM:PF01302:CAP_GLY 7 0.292 SQHIGH 16 13 29 0 37 37 Cosmic_Gene G G T G G TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 7461 7 73752966 73752966 71 AML diagnosis snv GNGT1 missense D20Y NM_021955 20-PASLSD GNGT1 MISSENSE SNP Somatic 7 0.292 SQHIGH 16 19 35 0 43 43 G G T G G TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 2792 7 93536116 93536116 66 AML diagnosis snv ADRA2A missense T161M NM_000681 20-PASLSD ADRA2A MISSENSE SNP Somatic PFAM:PF10320:7TM_GPCR_Srsx 5 0.234 SQHIGH 10 6 16 0 21 21 C C T C C TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 150 10 112838236 112838236 46 AML diagnosis snv PHF21A missense P69Q NM_001101802 20-PASLSD PHF21A MISSENSE SNP Somatic 8 0.324 SQHIGH 9 27 36 1 32 33 Cosmic_Gene G G T G G TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 51317 11 46001465 46001465 20 AML diagnosis snv ACSS3 missense A570T NM_024560 20-PASLSD ACSS3 MISSENSE SNP Somatic PFAM:PF04443:LuxE 4 0.212 SQHIGH 8 13 21 0 26 26 Cosmic_Gene G G A G G TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 79611 12 81627239 81627239 32 AML diagnosis snv SACS-AS1 EXON E1_exon NM_014363 20-PASLSD SACS|SACS-AS1 INTRON|UTR SNP Somatic 15 0.707 SQHIGH 20 21 41 0 36 36 Cosmic_Gene A A G A A TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 26278|100506680 13 24002195 24002195 67 AML diagnosis snv CD300LF missense R188C NM_001289083 20-PASLSD CD300LF|RAB37 SYNONYMOUS|INTRON SNP dbsnp.132:rs111797936 Somatic -2 0.114 SQHIGH 5 4 9 0 23 23 Cosmic_Gene G G A G G TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 146722|326624 17 72694551 72694551 32 AML diagnosis snv SPTBN4 silent A1549A NM_020971 20-PASLSD SPTBN4 SYNONYMOUS SNP Somatic 14 0.643 SQHIGH 11 10 21 0 22 22 Cosmic_Gene G G A G G TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 57731 19 41056206 41056206 42 AML relapse snv LAMB3 silent P641P NM_000228 20-PASLSD MIR4260|LAMB3 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 0 0.150 SQHIGH 10 18 28 0 24 24 Cosmic_Gene G G A G G TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 100422894|3914 1 209799046 209799046 31 AML relapse snv EML4 silent D136D NM_019063 20-PASLSD EML4 SYNONYMOUS,INTRON SNP Somatic -1 0.135 SQHIGH 7 21 28 0 34 34 Cosmic_Gene T T C T T TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 27436 2 42488330 42488330 26 AML relapse snv RAB11FIP5 missense I647T NM_015470 20-PASLSD RAB11FIP5|SFXN5 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF09457:RBD-FIP -3 0.111 SQHIGH 17 32 49 0 40 40 Cosmic_Gene A A G A A TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 26056|94097 2 73302671 73302671 51 AML relapse snv CLIP2 missense A104S NM_003388 20-PASLSD CLIP2 MISSENSE SNP Somatic PFAM:PF01302:CAP_GLY 6 0.276 SQHIGH 10 26 36 0 37 37 Cosmic_Gene G G T G G TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 7461 7 73752966 73752966 34 AML relapse snv GNGT1 missense D20Y NM_021955 20-PASLSD GNGT1 MISSENSE SNP Somatic 6 0.276 SQHIGH 10 18 28 0 43 43 G G T G G TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 2792 7 93536116 93536116 45 AML relapse snv ADRA2A missense T161M NM_000681 20-PASLSD ADRA2A MISSENSE SNP Somatic PFAM:PF10320:7TM_GPCR_Srsx 6 0.276 SQHIGH 14 15 29 0 21 21 C C T C C TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 150 10 112838236 112838236 41 AML relapse snv DNHD1 silent L2425L NM_144666 20-PASLSD DNHD1 SYNONYMOUS SNP Somatic -5 0.093 SQHIGH 4 33 37 0 49 49 Cosmic_Gene G G C G G TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 144132 11 6570051 6570051 15 AML relapse snv MCAM splice_region V65_E3splice_region NM_006500 20-PASLSD MCAM ACCEPTOR SNP Somatic 5 0.243 SQHIGH 9 26 35 2 39 41 Cosmic_Gene A A T A A TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 4162 11 119185759 119185759 19 AML relapse snv ACSS3 missense A570T NM_024560 20-PASLSD ACSS3 MISSENSE SNP Somatic PFAM:PF04443:LuxE -1 0.135 SQHIGH 7 15 22 0 26 26 Cosmic_Gene G G A G G TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 79611 12 81627239 81627239 26 AML relapse snv SACS-AS1 EXON E1_exon NM_014363 20-PASLSD SACS|SACS-AS1 INTRON|UTR SNP Somatic 11 0.477 SQHIGH 13 29 42 0 36 36 Cosmic_Gene A A G A A TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 26278|100506680 13 24002195 24002195 39 AML relapse snv HERC2 missense D1946G NM_004667 20-PASLSD HERC2 MISSENSE SNP Somatic -7 0.079 SQHIGH 14 45 59 2 43 45 Cosmic_Gene T T C T T TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 8924 15 28465606 28465606 22 AML relapse snv CD300LF missense R188C NM_001289083 20-PASLSD CD300LF|RAB37 SYNONYMOUS|INTRON SNP dbsnp.132:rs111797936 Somatic 3 0.199 SQHIGH 10 14 24 0 23 23 Cosmic_Gene G G A G G TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 146722|326624 17 72694551 72694551 34 AML relapse snv ZNF253 missense R308G NM_021047 20-PASLSD ZNF253 MISSENSE SNP Somatic -9 0.067 SQHIGH 11 26 37 1 29 30 A A G A A TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 56242 19 20002978 20002978 23 AML relapse snv ZNF253 missense N313K NM_021047 20-PASLSD ZNF253 MISSENSE SNP Somatic -9 0.067 SQHIGH 10 23 33 1 38 39 C C A C C TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 56242 19 20002995 20002995 29 AML relapse snv SPTBN4 silent A1549A NM_020971 20-PASLSD SPTBN4 SYNONYMOUS SNP Somatic 11 0.477 SQHIGH 12 19 31 0 22 22 Cosmic_Gene G G A G G TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 57731 19 41056206 41056206 33 AML diagnosis snv EPHA6 missense A614V NM_001080448 20-PASMGW EPHA6 UTR5,MISSENSE SNP Somatic 4 0.148 SQHIGH 18 22 40 0 31 31 Cosmic_Gene C C T C C TARGET-20-PASMGW-09A-01D TARGET-20-PASMGW-14A-01D 285220 3 97167521 97167521 54 AML diagnosis snv MYC silent L164L NM_002467 20-PASMGW MYC SYNONYMOUS SNP Somatic PFAM:PF01056:Myc_N -6 0.057 SQHIGH 5 22 27 0 25 25 Cosmic_Gene C C T C C TARGET-20-PASMGW-09A-01D TARGET-20-PASMGW-14A-01D 4609 8 128750953 128750953 15 AML diagnosis snv AMBRA1 missense H146L NM_017749 20-PASMGW AMBRA1 MISSENSE SNP Somatic PFAM:PF00400:WD40 -1 0.089 SQHIGH 4 21 25 0 28 28 Cosmic_Gene T T A T T TARGET-20-PASMGW-09A-01D TARGET-20-PASMGW-14A-01D 55626 11 46567268 46567268 14 AML diagnosis snv C11orf57 missense E291D NM_018195 20-PASMGW SDHD|C11orf57 TSS-UPSTREAM|MISSENSE SNP Somatic -2 0.081 SQHIGH 7 53 60 0 47 47 Cosmic_Gene G G C G G TARGET-20-PASMGW-09A-01D TARGET-20-PASMGW-14A-01D 6392|55216 11 111953687 111953687 18 AML diagnosis snv KRAS missense G13D NM_033360 20-PASMGW KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic 2 0.121 SQHIGH 11 30 41 0 32 32 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-20-PASMGW-09A-01D TARGET-20-PASMGW-14A-01D 3845 12 25398281 25398281 31 AML relapse snv LANCL1 silent K123K NM_006055 20-PASMGW LANCL1 SYNONYMOUS SNP Somatic -7 0.058 SQHIGH 4 28 32 0 55 55 C C T C C TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 10314 2 211319869 211319869 18 AML relapse snv VPRBP missense S1041C NM_014703 20-PASMGW VPRBP MISSENSE SNP Somatic PFAM:PF00400:WD40 8 0.287 SQHIGH 10 17 27 1 26 27 Cosmic_Gene T T A T T TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 9730 3 51456287 51456287 26 AML relapse snv ZNF654 missense A57D NM_018293 20-PASMGW ZNF654|CGGBP1 MISSENSE|INTRON SNP Somatic -25 0.009 6 35 41 0 38 38 Cosmic_Gene C C A C C TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 55279|8545 3 88188630 88188630 18 AML relapse snv EPHA6 missense A614V NM_001080448 20-PASMGW EPHA6 UTR5,MISSENSE SNP Somatic 0 0.111 SQHIGH 15 43 58 0 31 31 Cosmic_Gene C C T C C TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 285220 3 97167521 97167521 31 AML relapse snv KLHL2 missense M292R NM_007246 20-PASMGW KLHL2 MISSENSE SNP Somatic 10 0.355 SQHIGH 34 38 72 1 35 36 T T G T T TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 11275 4 166220762 166220762 63 AML relapse snv NUDT12 missense V377I NM_031438 20-PASMGW NUDT12 MISSENSE SNP Somatic -6 0.064 SQHIGH 6 53 59 0 44 44 C C T C C TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 83594 5 102888067 102888067 15 AML relapse snv NUDT12 missense G376R NM_031438 20-PASMGW NUDT12 MISSENSE SNP Somatic -6 0.064 SQHIGH 6 54 60 0 46 46 C C T C C TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 83594 5 102888070 102888070 15 AML relapse snv ANKHD1 silent I968I NM_017747 20-PASMGW ANKHD1-EIF4EBP3|ANKHD1 SYNONYMOUS|SYNONYMOUS SNP Somatic -1 0.100 SQHIGH 7 40 47 0 39 41 Cosmic_Gene T T C T T TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 404734|54882 5 139876763 139876763 19 AML relapse snv UNC5A silent A821A NM_133369 20-PASMGW UNC5A SYNONYMOUS SNP Somatic -7 0.058 SQHIGH 12 32 44 1 22 23 Cosmic_Gene T T G T T TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 90249 5 176306821 176306821 17 AML relapse snv SDK1 missense Q877E NM_152744 20-PASMGW SDK1 MISSENSE SNP Somatic -4 0.075 SQHIGH 12 66 78 0 53 53 Cosmic_Gene C C G C C TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 221935 7 4089006 4089006 29 AML relapse snv OR1Q1 missense R261W NM_012364 20-PASMGW OR1Q1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 8 0.287 SQHIGH 19 32 51 0 46 46 Cosmic_Gene C C T C C TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 158131 9 125377797 125377797 62 AML relapse snv SLC6A12 missense F397C NM_003044 20-PASMGW SLC6A12 MISSENSE SNP Somatic PFAM:PF00209:SNF 1 0.123 SQHIGH 8 42 50 0 35 35 Cosmic_Gene A A C A A TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 6539 12 305426 305426 20 AML relapse snv KRAS missense G13D NM_033360 20-PASMGW KRAS MISSENSE SNP dbsnp.132:rs112445441 Somatic 4 0.172 SQHIGH 10 29 39 0 32 32 COSMIC:mut:532 Cosmic_Gene C C T C C TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 3845 12 25398281 25398281 29 AML relapse snv FAM109A missense A74V NM_144671 20-PASMGW FAM109A MISSENSE SNP Somatic 0 0.111 SQHIGH 4 20 24 0 30 30 G G A G G TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 144717 12 111801011 111801011 15 AML relapse snv EP400 silent A1868A NM_015409 20-PASMGW EP400|SNORA49 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -7 0.058 SQHIGH 8 38 46 0 43 43 Cosmic_Gene T T A T T TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 57634|677829 12 132514553 132514553 24 AML relapse snv ATP8B1 splice_region G233_E8splice_region NM_005603 20-PASMGW ATP8B1 INTRON SNP Somatic 15 0.669 SQHIGH 11 28 39 1 28 29 Cosmic_Gene A A C A A TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 5205 18 55364842 55364842 21 AML relapse snv CFAP61 silent H254H NM_015585 20-PASMGW CFAP61 SYNONYMOUS SNP Somatic -7 0.058 SQHIGH 5 21 27 0 35 35 Cosmic_Gene T T C T T TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 26074 20 20079361 20079361 20 AML relapse snv PPM1F missense P72L NM_014634 20-PASMGW LOC100286925|PPM1F INTRON|MISSENSE SNP Somatic -7 0.058 SQHIGH 6 37 43 0 30 30 Cosmic_Gene G G A G G TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 100286925|9647 22 22294044 22294044 14 AML relapse mnv CD163 missense H250_E252>QHK NM_004244 20-PASMGW CD163 MISSENSE Sub Somatic PFAM:PF00530:SRCR -3 0.443 SQHIGH 17 90 107 2 74 76 Cosmic_Gene CAGCA CAGCA TATGC CAGCA CAGCA TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 9332 12 7651488 7651492 26 AML relapse mnv ERBB3 missense T169_L170>TT NM_001005915 20-PASMGW ERBB3 INTRON,MISSENSE Sub Somatic -10 0.258 SQHIGH 15 66 81 3 60 63 Cosmic_Gene TCT TCT GAC TCT TCT TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 2065 12 56479051 56479053 20 AML diagnosis snv CEP350 missense R253Q NM_014810 20-PASMHY CEP350 MISSENSE SNP Somatic 6 0.201 SQHIGH 21 43 64 0 61 61 Cosmic_Gene G G A G G TARGET-20-PASMHY-03A-01D TARGET-20-PASMHY-10A-01D 9857 1 179966050 179966050 69 AML diagnosis snv CLASP1 missense S1223Y NM_015282 20-PASMHY CLASP1 MISSENSE SNP Somatic -4 0.066 SQHIGH 16 18 34 0 25 25 Cosmic_Gene G G T G G TARGET-20-PASMHY-03A-01D TARGET-20-PASMHY-10A-01D 23332 2 122125382 122125382 47 AML diagnosis snv AGAP1 silent C627C NM_001037131 20-PASMHY AGAP1 SYNONYMOUS SNP Somatic PFAM:PF01412:ArfGap 17 0.867 SQHIGH 21 16 37 0 34 34 Cosmic_Gene C C T C C TARGET-20-PASMHY-03A-01D TARGET-20-PASMHY-10A-01D 116987 2 236949475 236949475 76 AML diagnosis snv NADSYN1 missense V86M NM_018161 20-PASMHY NADSYN1 MISSENSE SNP dbsnp.126:rs35588716 Somatic 9 0.296 SQHIGH 22 25 47 0 46 46 Cosmic_Gene G G A G G TARGET-20-PASMHY-03A-01D TARGET-20-PASMHY-10A-01D 55191 11 71169583 71169583 79 AML diagnosis snv GART silent L525L NM_000819 20-PASMHY GART SYNONYMOUS SNP Somatic -20 0.014 3 25 28 0 58 58 Cosmic_Gene G G A G G TARGET-20-PASMHY-03A-01D TARGET-20-PASMHY-10A-01D 2618 21 34892800 34892800 15 AML relapse snv NRAS missense G13D NM_002524 20-PASMHY NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic 12 0.455 SQHIGH 15 27 42 0 39 39 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 4893 1 115258744 115258744 49 AML relapse snv S100A7L2 silent S84S NM_001045479 20-PASMHY S100A7L2 SYNONYMOUS SNP Somatic 7 0.238 SQHIGH 20 56 76 1 91 92 Cosmic_Gene A A T A A TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 645922 1 153409621 153409621 64 AML relapse snv CEP350 missense R253Q NM_014810 20-PASMHY CEP350 MISSENSE SNP Somatic 10 0.345 SQHIGH 29 38 67 0 61 61 Cosmic_Gene G G A G G TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 9857 1 179966050 179966050 98 AML relapse snv CLASP1 missense S1223Y NM_015282 20-PASMHY CLASP1 MISSENSE SNP Somatic -4 0.068 SQHIGH 17 17 34 0 25 25 Cosmic_Gene G G T G G TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 23332 2 122125382 122125382 51 AML relapse snv ROBO1 splice K814K NM_002941 20-PASMHY ROBO1 SYNONYMOUS SNP Somatic 8 0.269 SQHIGH 8 0 8 0 16 16 Cosmic_Gene C T T C C TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 6091 3 78708836 78708836 59 AML relapse snv MBOAT1 nonsense Y388* NM_001080480 20-PASMHY MBOAT1 NONSENSE SNP Somatic PFAM:PF03062:MBOAT 10 0.345 SQHIGH 13 31 44 0 62 62 A A T A A TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 154141 6 20113152 20113152 55 AML relapse snv NADSYN1 missense V86M NM_018161 20-PASMHY NADSYN1 MISSENSE SNP dbsnp.126:rs35588716 Somatic 10 0.345 SQHIGH 15 19 34 0 46 46 Cosmic_Gene G G A G G TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 55191 11 71169583 71169583 66 AML relapse snv SERPINH1 silent T355T NM_001235 20-PASMHY SERPINH1 SYNONYMOUS SNP Somatic PFAM:PF00079:Serpin 15 0.681 SQHIGH 11 21 32 0 34 34 Cosmic_Gene C C T C C TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 871 11 75282936 75282936 39 AML relapse snv PSKH1 missense S142L NM_006742 20-PASMHY PSKH1 MISSENSE SNP Somatic 13 0.519 SQHIGH 23 21 44 1 44 45 C C T C C TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 5681 16 67943077 67943077 75 AML relapse snv BCAR1 missense L86P NM_001170714 20-PASMHY BCAR1 TSS-UPSTREAM,MISSENSE SNP Somatic -10 0.043 SQHIGH 7 21 28 1 28 29 Cosmic_Gene A A G A A TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 9564 16 75276882 75276882 16 AML relapse snv NCOR1 nonsense R1028* NM_006311 20-PASMHY NCOR1 NONSENSE SNP Somatic 3 0.138 SQHIGH 11 25 36 0 30 30 Cosmic_Gene G G A G G TARGET-20-PASMHY-04A-02D TARGET-20-PASMHY-10A-01D 9611 17 15989691 15989691 33 AML relapse snv KLHL17 missense R104P NM_198317 20-PASMYS KLHL17|NOC2L MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00651:BTB 12 0.597 SQHIGH 22 22 44 0 45 45 Cosmic_Gene G G C G G TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 339451|26155 1 896876 896876 83 AML relapse snv KALRN missense L1171Q NM_001024660 20-PASMYS KALRN MISSENSE SNP Somatic PFAM:PF00435:Spectrin -10 0.052 SQHIGH 6 32 38 0 42 42 Cosmic_Gene T T A T T TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 8997 3 124165698 124165698 20 AML relapse snv GHR missense R231K NM_000163 20-PASMYS GHR MISSENSE SNP Somatic 12 0.597 SQHIGH 18 30 48 0 34 34 Cosmic_Gene G G A G G TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 2690 5 42711382 42711382 49 AML relapse snv TRAPPC9 silent Y1173Y NM_031466 20-PASMYS TRAPPC9 SYNONYMOUS SNP dbsnp.129:rs58740567 Somatic PFAM:PF08626:TRAPPC9-Trs120 1 0.148 SQHIGH 16 59 75 0 75 75 Cosmic_Gene G G A G G TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 83696 8 140744276 140744276 52 AML relapse snv TOPORS missense S675R NM_005802 20-PASMYS TOPORS MISSENSE SNP Somatic 6 0.293 SQHIGH 24 41 65 1 63 64 Cosmic_Gene A A T A A TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 10210 9 32542498 32542498 71 AML relapse snv SORCS3 silent A105A NM_014978 20-PASMYS SORCS3 SYNONYMOUS SNP Somatic -2 0.105 SQHIGH 7 13 20 0 26 26 Cosmic_Gene C C A C C TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 22986 10 106401400 106401400 28 AML relapse snv HSPA12A missense P551L NM_025015 20-PASMYS HSPA12A MISSENSE SNP Somatic 7 0.333 SQHIGH 22 30 52 0 57 57 Cosmic_Gene G G A G G TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 259217 10 118434668 118434668 84 AML relapse snv SUV420H1 nonsense R812* NM_017635 20-PASMYS SUV420H1 NONSENSE SNP Somatic 8 0.376 SQHIGH 20 31 51 0 48 48 Cosmic_Gene G G A G G TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 51111 11 67925379 67925379 67 AML relapse snv THSD4 silent G416G NM_024817 20-PASMYS THSD4 SYNONYMOUS SNP Somatic PFAM:PF05986:ADAM_spacer1 3 0.189 SQHIGH 18 26 44 0 33 33 Cosmic_Gene C C T C C TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 79875 15 71952964 71952964 52 AML relapse snv ZNF236 silent T524T NM_007345 20-PASMYS ZNF236 SYNONYMOUS SNP Somatic 6 0.293 SQHIGH 21 36 57 0 64 64 Cosmic_Gene G G A G G TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 7776 18 74607129 74607129 79 AML relapse snv MUM1L1 missense A274S NM_152423 20-PASMYS MUM1L1 MISSENSE SNP Somatic 2 0.167 SQHIGH 24 36 60 1 34 35 Cosmic_Gene G G T G G TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 139221 X 105450245 105450245 46 AML diagnosis snv KLHL17 missense R104P NM_198317 20-PASMYS KLHL17|NOC2L MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00651:BTB 10 0.475 SQHIGH 18 29 47 0 45 45 Cosmic_Gene G G C G G TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 339451|26155 1 896876 896876 61 AML diagnosis snv SLC45A3 missense S236C NM_033102 20-PASMYS SLC45A3 MISSENSE SNP Somatic 6 0.294 SQHIGH 7 11 18 0 21 21 Cosmic_Gene G G C G G TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 85414 1 205632212 205632212 27 AML diagnosis snv GHR missense R231K NM_000163 20-PASMYS GHR MISSENSE SNP Somatic 12 0.595 SQHIGH 11 24 35 0 34 34 Cosmic_Gene G G A G G TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 2690 5 42711382 42711382 36 AML diagnosis snv BRD8 missense E1077D NM_139199 20-PASMYS BRD8 MISSENSE SNP Somatic -8 0.061 SQHIGH 4 24 28 0 40 40 Cosmic_Gene C C A C C TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 10902 5 137485376 137485376 16 AML diagnosis snv TRAPPC9 silent Y1173Y NM_031466 20-PASMYS TRAPPC9 SYNONYMOUS SNP dbsnp.129:rs58740567 Somatic PFAM:PF08626:TRAPPC9-Trs120 5 0.246 SQHIGH 21 62 83 0 75 75 Cosmic_Gene G G A G G TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 83696 8 140744276 140744276 65 AML diagnosis snv TOPORS missense S675R NM_005802 20-PASMYS TOPORS MISSENSE SNP Somatic 4 0.216 SQHIGH 17 43 60 1 63 64 Cosmic_Gene A A T A A TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 10210 9 32542498 32542498 49 AML diagnosis snv HSPA12A missense P551L NM_025015 20-PASMYS HSPA12A MISSENSE SNP Somatic 5 0.246 SQHIGH 17 37 54 0 57 57 Cosmic_Gene G G A G G TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 259217 10 118434668 118434668 60 AML diagnosis snv SUV420H1 nonsense R812* NM_017635 20-PASMYS SUV420H1 NONSENSE SNP Somatic 11 0.533 SQHIGH 13 27 40 0 48 48 Cosmic_Gene G G A G G TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 51111 11 67925379 67925379 50 AML diagnosis snv THSD4 silent G416G NM_024817 20-PASMYS THSD4 SYNONYMOUS SNP Somatic PFAM:PF05986:ADAM_spacer1 3 0.190 SQHIGH 19 27 46 0 33 33 Cosmic_Gene C C T C C TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 79875 15 71952964 71952964 53 AML diagnosis snv ZNF236 silent T524T NM_007345 20-PASMYS ZNF236 SYNONYMOUS SNP Somatic 7 0.333 SQHIGH 23 35 58 0 64 64 Cosmic_Gene G G A G G TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 7776 18 74607129 74607129 87 AML diagnosis snv RHD missense E193K NM_016124 20-PASPGA RHD MISSENSE SNP dbsnp.86:rs1053352,dbsnp.123:rs17418091 Somatic PFAM:PF00909:Ammonium_transp -9 0.052 SQHIGH 6 14 20 1 20 21 Cosmic_Gene G G A G G TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 6007 1 25627527 25627527 14 AML diagnosis snv FOXN2 missense D48E NM_002158 20-PASPGA FOXN2 MISSENSE SNP Somatic -8 0.056 SQHIGH 5 12 17 0 17 17 C C A C C TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 3344 2 48573497 48573497 17 AML diagnosis snv ETAA1 silent P62P NM_019002 20-PASPGA ETAA1 SYNONYMOUS SNP Somatic -9 0.052 SQHIGH 5 13 18 0 18 18 Cosmic_Gene T T G T T TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 54465 2 67624766 67624766 16 AML diagnosis snv LRRFIP1 missense R606C NM_001137550 20-PASPGA LRRFIP1 MISSENSE SNP Somatic -2 0.094 SQHIGH 8 21 29 0 40 40 Cosmic_Gene C C T C C TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 9208 2 238688068 238688068 33 AML diagnosis snv PDGFRA missense R383H NM_006206 20-PASPGA PDGFRA MISSENSE SNP Somatic 9 0.294 SQHIGH 23 34 57 0 43 43 Cosmic_Gene G G A G G TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 5156 4 55136826 55136826 67 AML diagnosis snv TAS2R46 missense T274A NM_176887 20-PASPGA TAS2R46|PRH1-PRR4 MISSENSE|INTRON SNP dbsnp.134:rs149976176 Somatic PFAM:PF03402:V1R -6 0.067 SQHIGH 10 41 51 2 58 60 Cosmic_Gene T T C T T TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 259292|100533464 12 11214074 11214074 22 AML diagnosis snv DTX1 missense S465T NM_004416 20-PASPGA DTX1 MISSENSE SNP Somatic -10 0.048 SQHIGH 4 22 26 0 30 30 Cosmic_Gene G G C G G TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 1840 12 113532854 113532854 14 AML diagnosis snv TJP1 missense Q1160K NM_003257 20-PASPGA TJP1 MISSENSE SNP Somatic 8 0.263 SQHIGH 15 28 43 1 26 27 Cosmic_Gene G G T G G TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 7082 15 30010868 30010868 28 AML diagnosis snv TMEM74B missense E8G NM_018354 20-PASPGA TMEM74B MISSENSE SNP Somatic -19 0.020 6 37 43 0 36 36 Cosmic_Gene T T C T T TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 55321 20 1164423 1164423 17 AML diagnosis snv MAP7D3 silent R834R NM_024597 20-PASPGA MAP7D3 SYNONYMOUS SNP Somatic -2 0.094 SQHIGH 20 28 48 1 45 46 Cosmic_Gene T T G T T TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 79649 X 135301817 135301817 58 AML diagnosis snv QPCT missense R292W NM_012413 20-PASPKE QPCT MISSENSE SNP Somatic -2 0.099 SQHIGH 20 30 50 1 32 33 Cosmic_Gene C C T C C TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 25797 2 37599549 37599549 42 AML diagnosis snv SLC8A1 missense A175D NM_021097 20-PASPKE SLC8A1 MISSENSE SNP Somatic PFAM:PF01699:Na_Ca_ex 3 0.160 SQHIGH 15 32 47 1 32 33 Cosmic_Gene G G T G G TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 6546 2 40656897 40656897 30 AML diagnosis snv PDLIM3 missense P268L NM_014476 20-PASPKE PDLIM3 MISSENSE SNP Somatic 8 0.268 SQHIGH 18 23 41 1 25 26 Cosmic_Gene G G A G G TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 27295 4 186425731 186425731 36 AML diagnosis snv ICE1 silent P2077P NM_015325 20-PASPKE ICE1 SYNONYMOUS SNP Somatic 4 0.176 SQHIGH 9 28 37 0 34 34 Cosmic_Gene G G A G G TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 23379 5 5473679 5473679 28 AML diagnosis snv CLDN23 silent F122F NM_194284 20-PASPKE CLDN23 SYNONYMOUS SNP Somatic -4 0.081 SQHIGH 12 21 33 0 14 14 C C T C C TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 137075 8 8560274 8560274 22 AML diagnosis snv PHRF1 missense A359T NM_020901 20-PASPKE PHRF1 MISSENSE SNP Somatic 17 0.815 SQHIGH 20 25 45 1 44 45 G G A G G TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 57661 11 601624 601624 61 AML diagnosis snv GANAB missense R610C NM_198334 20-PASPKE GANAB MISSENSE SNP Somatic -2 0.099 SQHIGH 17 22 39 1 44 45 Cosmic_Gene G G A G G TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 23193 11 62397066 62397066 56 AML diagnosis snv NRXN2 silent G422G NM_015080 20-PASPKE NRXN2 SYNONYMOUS SNP Somatic 14 0.559 SQHIGH 19 27 46 1 40 41 Cosmic_Gene G G A G G TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 9379 11 64436008 64436008 51 AML diagnosis snv ESPL1 missense V884L NM_012291 20-PASPKE ESPL1 MISSENSE SNP Somatic -2 0.099 SQHIGH 5 22 27 0 20 20 Cosmic_Gene G G T G G TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 9700 12 53676078 53676078 13 AML diagnosis snv KLHL1 silent L143L NM_020866 20-PASPKE ATXN8OS|KLHL1 UTR|SYNONYMOUS SNP Somatic 17 0.815 SQHIGH 22 25 47 0 43 43 C C T C C TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 6315|57626 13 70681403 70681403 76 AML diagnosis snv RYR1 silent R2403R NM_000540 20-PASPKE RYR1 SYNONYMOUS SNP dbsnp.131:rs78795178 Somatic 8 0.268 SQHIGH 10 20 30 0 22 22 Cosmic_Gene C C T C C TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 6261 19 38990456 38990456 27 AML diagnosis snv KRTAP19-7 missense C39Y NM_181614 20-PASPKE KRTAP19-7 MISSENSE SNP Somatic -10 0.049 SQHIGH 4 11 15 0 18 18 C C T C C TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 337974 21 31933493 31933493 15 AML diagnosis snv CDR1 missense G210R NM_004065 20-PASPKE CDR1 MISSENSE SNP dbsnp.134:rs143948461 Somatic 5 0.195 SQHIGH 20 19 39 1 53 54 C C T C C TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 1038 X 139865904 139865904 80 AML diagnosis mnv GON4L missense Q283_H284>QC NM_001282856 20-PASPKE GON4L MISSENSE Sub Somatic -8 0.326 SQHIGH 5 18 23 0 23 23 Cosmic_Gene TGC TGC CAT TGC TGC TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 54856 1 155792114 155792116 16 AML diagnosis mnv ACTA2 missense F354Y NM_001141945 20-PASPKE ACTA2 MISSENSE Sub Somatic PFAM:PF00022:Actin -6 0.374 SQHIGH 4 10 14 0 21 21 GA GA AT GA GA TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 59 10 90695052 90695053 17 AML relapse snv ALDH4A1 silent G318G NM_001161504 20-PASPLU ALDH4A1 SYNONYMOUS SNP Somatic PFAM:PF00171:Aldedh 3 0.126 SQHIGH 10 21 31 0 34 34 G G A G G TARGET-20-PASPLU-04A-01D TARGET-20-PASPLU-14A-01D 8659 1 19203913 19203913 36 AML relapse snv RYR2 missense R2805P NM_001035 20-PASPLU RYR2 MISSENSE SNP Somatic -18 0.017 2 21 23 0 18 18 Cosmic_Gene G G C G G TARGET-20-PASPLU-04A-01D TARGET-20-PASPLU-14A-01D 6262 1 237824225 237824225 5 AML relapse snv ADCYAP1R1 missense R416Q NM_001118 20-PASPLU ADCYAP1R1 MISSENSE SNP Somatic 9 0.250 SQHIGH 40 46 86 1 75 76 Cosmic_Gene G G A G G TARGET-20-PASPLU-04A-01D TARGET-20-PASPLU-14A-01D 117 7 31146138 31146138 120 AML relapse snv INSR silent N179N NM_000208 20-PASPLU INSR SYNONYMOUS SNP Somatic PFAM:PF00757:Furin-like 15 0.586 SQHIGH 26 28 54 0 62 62 Cosmic_Gene G G A G G TARGET-20-PASPLU-04A-01D TARGET-20-PASPLU-14A-01D 3643 19 7267471 7267471 105 AML diagnosis snv ALDH4A1 silent G318G NM_001161504 20-PASPLU ALDH4A1 SYNONYMOUS SNP Somatic PFAM:PF00171:Aldedh 11 0.363 SQHIGH 14 35 49 0 34 34 G G A G G TARGET-20-PASPLU-09A-02D TARGET-20-PASPLU-14A-01D 8659 1 19203913 19203913 36 AML diagnosis snv ADCYAP1R1 missense R416Q NM_001118 20-PASPLU ADCYAP1R1 MISSENSE SNP Somatic 9 0.280 SQHIGH 39 45 84 1 75 76 Cosmic_Gene G G A G G TARGET-20-PASPLU-09A-02D TARGET-20-PASPLU-14A-01D 117 7 31146138 31146138 119 AML diagnosis snv INSR silent N179N NM_000208 20-PASPLU INSR SYNONYMOUS SNP Somatic PFAM:PF00757:Furin-like 15 0.660 SQHIGH 37 42 79 0 62 62 Cosmic_Gene G G A G G TARGET-20-PASPLU-09A-02D TARGET-20-PASPLU-14A-01D 3643 19 7267471 7267471 115 AML diagnosis snv PRDM16 splice_region V345_E8splice_region NM_022114 20-PASPTM PRDM16 ACCEPTOR SNP Somatic 8 0.261 SQHIGH 12 33 45 0 51 51 Cosmic_Gene G G A G G TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 63976 1 3322049 3322049 43 AML diagnosis snv FCRL3 silent A312A NM_052939 20-PASPTM FCRL3 SYNONYMOUS SNP Somatic PFAM:PF00047:ig -10 0.051 SQHIGH 4 31 35 0 48 48 Cosmic_Gene G G A G G TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 115352 1 157666026 157666026 15 AML diagnosis snv BOLA3 splice_region Q86_E3splice_region NM_212552 20-PASPTM BOLA3 INTRON,DONOR SNP Somatic -5 0.075 SQHIGH 3 9 12 0 27 27 C C A C C TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 388962 2 74369394 74369394 16 AML diagnosis snv GATA2 missense A318V NM_001145661 20-PASPTM GATA2 MISSENSE SNP Somatic 11 0.369 SQHIGH 14 26 40 0 49 50 Cosmic_Gene G G A G G TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 2624 3 128202767 128202767 55 AML diagnosis snv GATA2 missense A318T NM_001145661 20-PASPTM GATA2 MISSENSE SNP Somatic 11 0.369 SQHIGH 9 33 42 0 49 49 Cosmic_Gene C C T C C TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 2624 3 128202768 128202768 32 AML diagnosis snv STOX2 missense R694S NM_020225 20-PASPTM STOX2 MISSENSE SNP Somatic 7 0.234 SQHIGH 8 26 34 1 46 47 G G C G G TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 56977 4 184932073 184932073 25 AML diagnosis snv HECW1 silent S701S NM_015052 20-PASPTM HECW1 SYNONYMOUS SNP Somatic -9 0.054 SQHIGH 5 23 28 0 19 19 Cosmic_Gene G G C G G TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 23072 7 43484874 43484874 12 AML diagnosis snv PUS7 missense T432S NM_019042 20-PASPTM PUS7 MISSENSE SNP Somatic -7 0.063 SQHIGH 4 16 20 0 28 28 Cosmic_Gene G G C G G TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 54517 7 105111238 105111238 16 AML diagnosis snv TRPS1 missense Q980E NM_014112 20-PASPTM TRPS1 MISSENSE SNP Somatic 3 0.153 SQHIGH 7 21 28 0 16 16 Cosmic_Gene G G C G G TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 7227 8 116427198 116427198 15 AML diagnosis snv APLNR silent P354P NM_005161 20-PASPTM APLNR SYNONYMOUS,UTR SNP Somatic -10 0.051 SQHIGH 6 31 37 0 53 53 Cosmic_Gene G G A G G TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 187 11 57003417 57003417 24 AML diagnosis snv ST3GAL4-AS1 EXON E4_exon NM_014026 20-PASPTM FLJ39051|DCPS UTR|INTRON SNP Somatic -9 0.054 SQHIGH 6 21 27 0 25 25 T T G T T TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 399972|28960 11 126211988 126211988 18 AML diagnosis snv ATXN2 silent A1020A NM_002973 20-PASPTM ATXN2 SYNONYMOUS SNP Somatic 2 0.139 SQHIGH 3 12 15 0 28 28 Cosmic_Gene C C G C C TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 6311 12 111908485 111908485 14 AML diagnosis snv SAMD4A silent A427A NM_015589 20-PASPTM SAMD4A SYNONYMOUS SNP Somatic -9 0.054 SQHIGH 15 56 71 3 66 69 T T C T T TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 23034 14 55226983 55226983 26 AML diagnosis snv NCLN missense Q59R NM_020170 20-PASPTM NCLN MISSENSE SNP Somatic -6 0.070 SQHIGH 6 24 30 0 23 23 A A G A A TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 56926 19 3186204 3186204 16 AML diagnosis snv SCN1B missense S116L NM_001037 20-PASPTM SCN1B MISSENSE SNP Somatic PFAM:PF00047:ig 2 0.139 SQHIGH 14 70 84 0 53 53 Cosmic_Gene C C T C C TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 6324 19 35524542 35524542 32 AML diagnosis snv MYH14 missense S138F NM_001077186 20-PASPTM MYH14 MISSENSE SNP Somatic 4 0.168 SQHIGH 8 56 64 0 26 26 Cosmic_Gene C C T C C TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 79784 19 50720879 50720879 12 AML diagnosis snv NKX2-4 missense P325T NM_033176 20-PASPTM NKX2-4 MISSENSE SNP Somatic -5 0.075 SQHIGH 6 13 19 0 20 20 G G T G G TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 644524 20 21376641 21376641 21 AML diagnosis snv TOP1 missense F278L NM_003286 20-PASPTM TOP1 MISSENSE SNP Somatic -2 0.097 SQHIGH 9 11 20 0 18 18 Cosmic_Gene C C A C C TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 7150 20 39725963 39725963 30 AML diagnosis snv KRTAP10-4 silent R393R NM_198687 20-PASPTM TSPEAR|KRTAP10-4 INTRON|SYNONYMOUS SNP Somatic -1 0.106 SQHIGH 5 12 17 0 22 22 Cosmic_Gene C C A C C TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 54084|386672 21 45994814 45994814 20 AML diagnosis snv CXorf67 missense H107Q NM_203407 20-PASPTM CXorf67 UTR SNP Somatic 8 0.261 SQHIGH 16 26 42 0 42 42 Cosmic_Gene C C A C C TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 340602 X 51150189 51150189 56 AML diagnosis mnv VSNL1 missense L185I NM_003385 20-PASPTM VSNL1 MISSENSE Sub Somatic -10 0.285 SQHIGH 10 39 49 2 53 55 Cosmic_Gene CTG CTG ATC CTG CTG TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 7447 2 17836638 17836640 21 AML diagnosis mnv ZXDC missense S496Q NM_025112 20-PASPTM ZXDC MISSENSE Sub Somatic -9 0.301 SQHIGH 6 23 29 0 23 23 Cosmic_Gene ACT ACT CTG ACT ACT TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 79364 3 126181017 126181019 16 AML diagnosis mnv ARHGAP12 missense S513Q NM_018287 20-PASPTM ARHGAP12 MISSENSE Sub Somatic -5 0.382 SQHIGH 4 10 14 0 27 27 ACT ACT TTG ACT ACT TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 94134 10 32109408 32109410 20 AML diagnosis mnv CNNM1 missense D574V NM_020348 20-PASPTM CNNM1 MISSENSE Sub Somatic -8 0.316 SQHIGH 10 45 55 1 54 55 AC AC TG AC AC TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 26507 10 101120595 101120596 24 AML diagnosis complex LOC643923 EXON E1_exon NM_018712 20-PASPTM ELMOD1|LOC643923 INTRON|UTR Sub Somatic -2 0.500 SQHIGH 10 28 38 1 34 35 GCTG GCTG GTC GCTG GCTG TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 55531|643923 11 107462649 107462652 23 AML diagnosis mnv NRSN2 missense E167A NM_024958 20-PASPTM NRSN2 MISSENSE Sub Somatic 0 0.611 SQHIGH 8 27 35 0 40 40 AG AG CC AG AG TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 80023 20 334164 334165 29 AML diagnosis mnv KRTAP10-4 missense P394_A395>PT NM_198687 20-PASPTM TSPEAR|KRTAP10-4 INTRON|MISSENSE Sub Somatic -7 0.333 SQHIGH 5 11 16 0 21 21 Cosmic_Gene AG AG CA AG AG TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 54084|386672 21 45994817 45994818 20 AML diagnosis snv SRRM1 silent T385T NM_005839 20-PASRLS SRRM1 SYNONYMOUS SNP Somatic -6 0.067 SQHIGH 6 20 26 2 44 46 Cosmic_Gene T T C T T TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 10250 1 24981460 24981460 16 AML diagnosis snv NPC1L1 missense H842P NM_013389 20-PASRLS NPC1L1 MISSENSE SNP Somatic -3 0.084 SQHIGH 4 23 27 0 32 32 Cosmic_Gene T T G T T TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 29881 7 44571701 44571701 14 AML diagnosis snv SYK nonsense G618* NM_003177 20-PASRLS SYK NONSENSE SNP Somatic 7 0.221 SQHIGH 6 33 39 0 26 26 Cosmic_Gene G G T G G TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 6850 9 93657826 93657826 14 AML diagnosis snv SLC37A2 missense D341G NM_198277 20-PASRLS SLC37A2 MISSENSE SNP Somatic -7 0.062 SQHIGH 16 52 68 1 39 40 Cosmic_Gene A A G A A TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 219855 11 124953756 124953756 26 AML diagnosis snv CREBL2 missense E95K NM_001310 20-PASRLS CREBL2 MISSENSE SNP Somatic -7 0.062 SQHIGH 5 14 19 0 15 15 G G A G G TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 1389 12 12790573 12790573 14 AML diagnosis snv BAIAP3 splice_region Q171_E5splice_region NM_003933 20-PASRLS BAIAP3 INTRON SNP Somatic -2 0.092 SQHIGH 4 11 15 0 16 16 Cosmic_Gene C C G C C TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 8938 16 1389612 1389612 14 AML diagnosis mnv PLXNA1 missense N572_V573>ML NM_032242 20-PASRLS PLXNA1 MISSENSE Sub Somatic -8 0.338 SQHIGH 8 31 39 0 36 36 Cosmic_Gene ATG ATG TGT ATG ATG TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 5361 3 126723823 126723825 24 AML diagnosis mnv RNF169 missense D502_H503>DY NM_001098638 20-PASRLS RNF169 MISSENSE Sub Somatic -10 0.309 SQHIGH 7 29 36 0 32 32 Cosmic_Gene TC TC CT TC TC TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 254225 11 74547154 74547155 21 AML diagnosis mnv CDK3 missense R65_L66>RP NM_001258 20-PASRLS C17orf106-CDK3|CDK3 UTR|MISSENSE Sub Somatic -10 0.309 SQHIGH 6 15 21 0 22 22 Cosmic_Gene ACTG ACTG TCCA ACTG ACTG TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 100529145|1018 17 73998103 73998106 21 AML diagnosis snv SLC30A7 missense F39L NM_133496 20-PASSSI EXTL2|SLC30A7 TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.217 SQHIGH 33 43 76 1 66 67 Cosmic_Gene T T C T T TARGET-20-PASSSI-09A-01D TARGET-20-PASSSI-14A-01D 2135|148867 1 101362160 101362160 96 AML diagnosis snv TAGAP missense F306V NM_152133 20-PASSSI TAGAP MISSENSE SNP Somatic -7 0.060 SQHIGH 3 8 11 0 18 18 Cosmic_Gene A A C A A TARGET-20-PASSSI-09A-01D TARGET-20-PASSSI-14A-01D 117289 6 159457605 159457605 13 AML diagnosis snv KRAS missense K117N NM_033360 20-PASSSI KRAS MISSENSE SNP Somatic 5 0.176 SQHIGH 6 17 23 0 30 30 COSMIC:mut:19940 Cosmic_Gene T T G T T TARGET-20-PASSSI-09A-01D TARGET-20-PASSSI-14A-01D 3845 12 25378647 25378647 24 AML diagnosis snv ZNF222 splice_region E14_E1splice_region NM_001129996 20-PASSSI ZNF222 INTRON SNP Somatic 17 0.783 SQHIGH 10 18 28 1 39 40 Cosmic_Gene G G T G G TARGET-20-PASSSI-09A-01D TARGET-20-PASSSI-14A-01D 7673 19 44529639 44529639 34 AML diagnosis snv MAN1A2 missense R371C NM_006699 20-PASTTW MAN1A2 MISSENSE SNP Somatic PFAM:PF01532:Glyco_hydro_47 -1 0.099 SQHIGH 5 28 33 0 25 25 C C T C C TARGET-20-PASTTW-09A-01D TARGET-20-PASTTW-14A-01D 10905 1 118008992 118008992 13 AML diagnosis snv ECT2 missense D622G NM_018098 20-PASTTW ECT2 MISSENSE SNP Somatic -8 0.054 SQHIGH 5 21 26 0 22 22 Cosmic_Gene A A G A A TARGET-20-PASTTW-09A-01D TARGET-20-PASTTW-14A-01D 1894 3 172520456 172520456 14 AML diagnosis snv DNAH5 missense G2923D NM_001369 20-PASTTW DNAH5 MISSENSE SNP Somatic PFAM:PF00485:PRK -2 0.089 SQHIGH 7 29 36 0 33 33 Cosmic_Gene C C T C C TARGET-20-PASTTW-09A-01D TARGET-20-PASTTW-14A-01D 1767 5 13786340 13786340 21 AML diagnosis snv CACNA2D3-AS1 EXON E27_exon NM_018398 20-PASTUH CACNA2D3 INTRON SNP Somatic 12 0.389 SQHIGH 24 26 50 1 57 58 Cosmic_Gene C C T C C TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 55799 3 54935193 54935193 85 AML diagnosis snv DCHS2 silent I2834I NM_017639 20-PASTUH DCHS2 SYNONYMOUS SNP Somatic -3 0.077 SQHIGH 5 27 32 0 30 30 Cosmic_Gene A A G A A TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 54798 4 155155937 155155937 15 AML diagnosis snv DSP missense Q2215K NM_004415 20-PASTUH DSP MISSENSE SNP Somatic 14 0.522 SQHIGH 28 36 64 0 58 58 Cosmic_Gene C C A C C TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 1832 6 7584138 7584138 94 AML diagnosis snv FANCE missense S52G NM_021922 20-PASTUH FANCE MISSENSE SNP Somatic -6 0.061 SQHIGH 11 17 28 0 16 16 Cosmic_Gene A A G A A TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 2178 6 35420476 35420476 26 AML diagnosis snv ARMC2 missense E287K NM_032131 20-PASTUH ARMC2 MISSENSE SNP Somatic -8 0.052 SQHIGH 5 38 43 0 43 43 G G A G G TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 84071 6 109225444 109225444 16 AML diagnosis snv LOC100507346 EXON E15_exon NM_000264 20-PASTUH PTCH1|LOC100507346 INTRON|UTR SNP Somatic 8 0.238 SQHIGH 20 30 50 0 62 62 Cosmic_Gene G G A G G TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 5727|100507346 9 98229367 98229367 81 AML diagnosis snv CARD9 missense L54M NM_052813 20-PASTUH CARD9 MISSENSE SNP Somatic 13 0.447 SQHIGH 28 38 66 0 62 62 Cosmic_Gene G G T G G TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 64170 9 139266371 139266371 96 AML diagnosis snv KRAS missense G12D NM_033360 20-PASTUH KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 18 0.890 SQHIGH 18 21 39 0 34 34 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 3845 12 25398284 25398284 59 AML diagnosis snv FAM186B missense L510Q NM_032130 20-PASTUH FAM186B MISSENSE,UTR SNP Somatic -3 0.077 SQHIGH 6 13 19 1 21 22 Cosmic_Gene A A T A A TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 84070 12 49993894 49993894 15 AML diagnosis snv ILVBL missense T474P NM_006844 20-PASTUH ILVBL MISSENSE SNP Somatic -9 0.049 SQHIGH 4 21 25 0 29 30 Cosmic_Gene T T G T T TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 10994 19 15227014 15227014 14 AML diagnosis snv FKBP8 missense K176N NM_012181 20-PASTUH FKBP8 MISSENSE SNP Somatic PFAM:PF00254:FKBP_C 8 0.238 SQHIGH 10 11 21 0 25 25 Cosmic_Gene C C G C C TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 23770 19 18650204 18650204 41 AML diagnosis snv ASB9 silent G31G NM_001031739 20-PASTUH ASB9 SYNONYMOUS SNP Somatic 10 0.301 SQHIGH 28 30 58 1 49 50 G G A G G TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 140462 X 15287904 15287904 81 AML diagnosis snv PAK3 silent R498R NM_001128166 20-PASTUH PAK3 SYNONYMOUS SNP Somatic 12 0.389 SQHIGH 18 28 46 0 34 34 Cosmic_Gene C C G C C TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 5063 X 110459735 110459735 51 AML diagnosis snv STAG2 splice_region G129_E7splice_region NM_001042749 20-PASTUH STAG2 ACCEPTOR SNP Somatic 2 0.124 SQHIGH 17 20 37 0 28 28 Cosmic_Gene A A G A A TARGET-20-PASTUH-03A-01D TARGET-20-PASTUH-14A-01D 10735 X 123176411 123176411 51 AML relapse snv ATF3 missense C113S NM_001674 20-PASTUH ATF3 INTRON,MISSENSE SNP Somatic PFAM:PF00170:bZIP_1 -2 0.084 SQHIGH 7 36 43 3 66 69 T T A T T TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 467 1 212791565 212791565 14 AML relapse snv CACNA2D3-AS1 EXON E27_exon NM_018398 20-PASTUH CACNA2D3 INTRON SNP Somatic 16 0.713 SQHIGH 45 22 67 1 57 58 Cosmic_Gene C C T C C TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 55799 3 54935193 54935193 154 AML relapse snv DSP missense Q2215K NM_004415 20-PASTUH DSP MISSENSE SNP Somatic 13 0.456 SQHIGH 30 39 69 0 58 58 Cosmic_Gene C C A C C TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 1832 6 7584138 7584138 96 AML relapse snv LOC100507346 EXON E15_exon NM_000264 20-PASTUH PTCH1|LOC100507346 INTRON|UTR SNP Somatic 15 0.639 SQHIGH 37 34 71 0 62 62 Cosmic_Gene G G A G G TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 5727|100507346 9 98229367 98229367 127 AML relapse snv CARD9 missense L54M NM_052813 20-PASTUH CARD9 MISSENSE SNP Somatic 15 0.639 SQHIGH 31 37 68 0 62 62 Cosmic_Gene G G T G G TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 64170 9 139266371 139266371 106 AML relapse snv DGKZ splice L139_E3splice NM_201532 20-PASTUH DGKZ DISRUPT SNP Somatic 7 0.224 SQHIGH 6 18 24 0 23 23 Cosmic_Gene G G A G G TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 8525 11 46389298 46389298 19 AML relapse snv UPK2 silent L19L NM_006760 20-PASTUH UPK2 SYNONYMOUS SNP Somatic -10 0.044 SQHIGH 5 19 24 0 17 17 Cosmic_Gene G G T G G TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 7379 11 118827117 118827117 12 AML relapse snv FLT3 missense F594L NM_004119 20-PASTUH FLT3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 10 0.312 SQHIGH 25 37 62 0 59 59 Cosmic_Gene A A G A A TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 2322 13 28608276 28608276 86 AML relapse snv BCL11B missense R309C NM_138576 20-PASTUH BCL11B MISSENSE SNP Somatic 3 0.140 SQHIGH 10 8 18 0 24 24 Cosmic_Gene G G A G G TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 64919 14 99642248 99642248 45 AML relapse snv FKBP8 missense K176N NM_012181 20-PASTUH FKBP8 MISSENSE SNP Somatic PFAM:PF00254:FKBP_C 7 0.224 SQHIGH 8 16 24 0 25 25 Cosmic_Gene C C G C C TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 23770 19 18650204 18650204 28 AML relapse snv GGT7 missense E6Q NM_178026 20-PASTUH ACSS2|GGT7 TSS-UPSTREAM|MISSENSE SNP Somatic 17 0.851 SQHIGH 14 25 39 0 41 41 Cosmic_Gene C C G C C TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 55902|2686 20 33460603 33460603 50 AML relapse snv ASB9 silent G31G NM_001031739 20-PASTUH ASB9 SYNONYMOUS SNP Somatic 12 0.399 SQHIGH 22 18 40 1 49 50 G G A G G TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 140462 X 15287904 15287904 84 AML relapse snv PAK3 silent R498R NM_001128166 20-PASTUH PAK3 SYNONYMOUS SNP Somatic 15 0.639 SQHIGH 19 20 39 0 34 34 Cosmic_Gene C C G C C TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 5063 X 110459735 110459735 64 AML relapse snv STAG2 splice_region G129_E7splice_region NM_001042749 20-PASTUH STAG2 ACCEPTOR SNP Somatic 2 0.126 SQHIGH 14 16 30 0 28 28 Cosmic_Gene A A G A A TARGET-20-PASTUH-04A-01D TARGET-20-PASTUH-14A-01D 10735 X 123176411 123176411 48 AML relapse snv CCSER1 missense T629M NM_001145065 20-PASVVS CCSER1 MISSENSE SNP Somatic 0 0.106 SQHIGH 7 20 27 0 29 29 Cosmic_Gene C C T C C TARGET-20-PASVVS-04A-01D TARGET-20-PASVVS-14A-01D 401145 4 91549337 91549337 24 AML relapse snv HDAC9 nonsense R660* NM_058176 20-PASVVS HDAC9 NONSENSE SNP Somatic PFAM:PF00850:Hist_deacetyl 16 0.732 SQHIGH 13 14 27 0 24 24 Cosmic_Gene C C T C C TARGET-20-PASVVS-04A-01D TARGET-20-PASVVS-14A-01D 9734 7 18788705 18788705 44 AML relapse snv ATP8A2 nonsense R586* NM_016529 20-PASVVS ATP8A2 NONSENSE SNP Somatic 8 0.256 SQHIGH 18 25 43 0 40 40 Cosmic_Gene C C T C C TARGET-20-PASVVS-04A-01D TARGET-20-PASVVS-14A-01D 51761 13 26151250 26151250 61 AML relapse snv CA4 splice_region I249_E8splice_region NM_000717 20-PASVVS CA4 ACCEPTOR SNP Somatic 8 0.256 SQHIGH 24 30 54 2 50 52 G G A G G TARGET-20-PASVVS-04A-01D TARGET-20-PASVVS-14A-01D 762 17 58236587 58236587 63 AML relapse snv ZNF470 splice G63_E5splice NM_001001668 20-PASVVS ZNF470 ACCEPTOR SNP Somatic 4 0.156 SQHIGH 28 50 78 0 79 79 Cosmic_Gene C C T C C TARGET-20-PASVVS-04A-01D TARGET-20-PASVVS-14A-01D 388566 19 57086004 57086004 98 AML relapse snv SEC14L4 silent A399A NM_174977 20-PASVVS SEC14L4 SYNONYMOUS,INTRON SNP Somatic 11 0.370 SQHIGH 15 25 40 0 55 55 Cosmic_Gene C C T C C TARGET-20-PASVVS-04A-01D TARGET-20-PASVVS-14A-01D 284904 22 30886118 30886118 64 AML relapse mnv ARL14 missense A133G NM_025047 20-PASVVS ARL14 MISSENSE Sub Somatic -6 0.308 SQHIGH 7 19 26 0 33 33 CT CT GA CT CT TARGET-20-PASVVS-04A-01D TARGET-20-PASVVS-14A-01D 80117 3 160395532 160395533 27 AML diagnosis snv OR10R2 missense I201F NM_001004472 20-PASVVS OR10R2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -7 0.055 SQHIGH 4 24 28 0 40 40 Cosmic_Gene A A T A A TARGET-20-PASVVS-09A-01D TARGET-20-PASVVS-14A-01D 343406 1 158450268 158450268 16 AML diagnosis snv KIF1A silent D1663D NM_004321 20-PASVVS KIF1A SYNONYMOUS SNP Somatic -1 0.093 SQHIGH 12 60 72 0 44 44 Cosmic_Gene G G A G G TARGET-20-PASVVS-09A-01D TARGET-20-PASVVS-14A-01D 547 2 241657508 241657508 27 AML diagnosis snv MORC1 silent S651S NM_014429 20-PASVVS MORC1 SYNONYMOUS SNP Somatic -3 0.077 SQHIGH 3 13 16 0 29 29 Cosmic_Gene A A G A A TARGET-20-PASVVS-09A-01D TARGET-20-PASVVS-14A-01D 27136 3 108723977 108723977 14 AML diagnosis snv HDAC9 nonsense R660* NM_058176 20-PASVVS HDAC9 NONSENSE SNP Somatic PFAM:PF00850:Hist_deacetyl 15 0.657 SQHIGH 10 14 24 0 24 24 Cosmic_Gene C C T C C TARGET-20-PASVVS-09A-01D TARGET-20-PASVVS-14A-01D 9734 7 18788705 18788705 35 AML diagnosis snv ATP8A2 nonsense R586* NM_016529 20-PASVVS ATP8A2 NONSENSE SNP Somatic 6 0.199 SQHIGH 12 37 49 0 40 40 Cosmic_Gene C C T C C TARGET-20-PASVVS-09A-01D TARGET-20-PASVVS-14A-01D 51761 13 26151250 26151250 34 AML diagnosis mnv KIF23 missense S249L NM_138555 20-PASVVS KIF23 MISSENSE Sub Somatic -10 0.236 SQHIGH 3 15 18 0 30 30 TCT TCT CTG TCT TCT TARGET-20-PASVVS-09A-01D TARGET-20-PASVVS-14A-01D 9493 15 69718419 69718421 13 AML relapse snv LZTS1 missense Q220H NM_021020 20-PASVYA LZTS1 MISSENSE SNP Somatic -7 0.053 SQHIGH 5 26 31 0 26 26 Cosmic_Gene C C G C C TARGET-20-PASVYA-04A-02D TARGET-20-PASVYA-14A-01D 11178 8 20110782 20110782 14 AML relapse snv DUSP15 missense Q198P NM_080611 20-PASVYA DUSP15 MISSENSE SNP Somatic 0 0.098 SQHIGH 6 9 15 0 15 15 Cosmic_Gene T T G T T TARGET-20-PASVYA-04A-02D TARGET-20-PASVYA-14A-01D 128853 20 30449321 30449321 21 AML diagnosis snv MACF1 silent V4868V NM_012090 20-PASVYA MACF1 SYNONYMOUS SNP Somatic -9 0.046 SQHIGH 6 26 32 0 37 37 Cosmic_Gene T T G T T TARGET-20-PASVYA-09A-01D TARGET-20-PASVYA-14A-01D 23499 1 39919417 39919417 21 AML diagnosis snv GRPEL1 missense E69K NM_025196 20-PASVYA GRPEL1 MISSENSE SNP Somatic 6 0.190 SQHIGH 8 28 36 2 43 45 C C T C C TARGET-20-PASVYA-09A-01D TARGET-20-PASVYA-14A-01D 80273 4 7065808 7065808 17 AML diagnosis snv DPP7 missense R489S NM_013379 20-PASVYA DPP7 MISSENSE SNP Somatic 7 0.220 SQHIGH 6 15 21 1 26 27 T T G T T TARGET-20-PASVYA-09A-01D TARGET-20-PASVYA-14A-01D 29952 9 140005112 140005112 17 AML relapse snv GPR87 silent K247K NM_023915 20-PASVYL GPR87|MED12L SYNONYMOUS|INTRON SNP Somatic PFAM:PF00001:7tm_1 7 0.230 SQHIGH 6 23 29 1 55 56 Cosmic_Gene C C T C C TARGET-20-PASVYL-04A-02D TARGET-20-PASVYL-10A-02D 53836|116931 3 151012293 151012293 22 AML relapse snv ANKRD17 missense E120D NM_032217 20-PASVYL ANKRD17 MISSENSE SNP Somatic -5 0.065 SQHIGH 5 28 33 0 29 29 Cosmic_Gene C C G C C TARGET-20-PASVYL-04A-02D TARGET-20-PASVYL-10A-02D 26057 4 74124026 74124026 14 AML diagnosis snv NRAS missense Q61K NM_002524 20-PASVYL NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 18 0.898 SQHIGH 14 13 27 0 26 26 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 4893 1 115256530 115256530 51 AML diagnosis snv WDR26 missense E156Q NM_025160 20-PASVYL LOC100506354|WDR26 TSS-UPSTREAM|MISSENSE SNP Somatic 16 0.739 SQHIGH 14 17 31 0 34 34 C C G C C TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 100506354|80232 1 224619440 224619440 54 AML diagnosis snv CNTNAP5 missense R878W NM_130773 20-PASVYL CNTNAP5 MISSENSE SNP Somatic 8 0.261 SQHIGH 22 32 54 1 63 64 Cosmic_Gene C C T C C TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 129684 2 125530477 125530477 75 AML diagnosis snv ASB18 silent P345P NM_212556 20-PASVYL ASB18 SYNONYMOUS SNP Somatic -8 0.051 SQHIGH 10 6 16 0 17 17 Cosmic_Gene C C T C C TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 401036 2 237123071 237123071 41 AML diagnosis snv IQCA1 silent Q446Q NM_024726 20-PASVYL IQCA1 SYNONYMOUS SNP Somatic 11 0.377 SQHIGH 45 45 90 1 62 63 Cosmic_Gene C C T C C TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 79781 2 237300694 237300694 117 AML diagnosis snv TRIM26 missense V34I NM_003449 20-PASVYL TRIM26 MISSENSE SNP Somatic 2 0.129 SQHIGH 19 30 49 0 44 44 Cosmic_Gene C C T C C TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 7726 6 30166781 30166781 62 AML diagnosis snv ZNF277 splice D290_E9splice NM_021994 20-PASVYL ZNF277 DISRUPT SNP Somatic 15 0.664 SQHIGH 21 21 42 0 54 54 Cosmic_Gene A A G A A TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 11179 7 111977783 111977783 92 AML diagnosis snv OR52W1 silent A49A NM_001005178 20-PASVYL OR52W1 SYNONYMOUS SNP Somatic -10 0.044 SQHIGH 5 21 26 0 20 20 A A C A A TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 120787 11 6220600 6220600 13 AML diagnosis snv IQSEC3 silent P1082P NM_001170738 20-PASVYL IQSEC3 SYNONYMOUS SNP Somatic -4 0.072 SQHIGH 3 2 5 0 9 9 Cosmic_Gene G G C G G TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 440073 12 283896 283896 16 AML diagnosis snv NUTM1 missense G1047V NM_175741 20-PASVYL NUTM1 MISSENSE SNP Somatic -1 0.095 SQHIGH 8 32 40 1 44 45 Cosmic_Gene G G T G G TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 256646 15 34649433 34649433 20 AML diagnosis snv TTC19 silent A92A NM_017775 20-PASVYL ZSWIM7|TTC19 TSS-UPSTREAM|SYNONYMOUS,UTR SNP Somatic 3 0.142 SQHIGH 5 13 18 0 14 14 Cosmic_Gene C C G C C TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 125150|54902 17 15903523 15903523 14 AML diagnosis snv MYO1D missense V47I NM_015194 20-PASVYL MYO1D MISSENSE SNP Somatic -1 0.095 SQHIGH 5 20 25 1 41 42 Cosmic_Gene C C T C C TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 4642 17 31107759 31107759 16 AML diagnosis snv EVPL silent T596T NM_001988 20-PASVYL EVPL SYNONYMOUS SNP dbsnp.134:rs146194499 Somatic 18 0.898 SQHIGH 16 15 31 0 33 33 Cosmic_Gene C C T C C TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 2125 17 74011632 74011632 62 AML diagnosis snv GPI nonsense R96* NM_000175 20-PASVYL GPI NONSENSE SNP Somatic 13 0.495 SQHIGH 20 19 39 1 29 30 Cosmic_Gene C C T C C TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 2821 19 34859491 34859491 51 AML diagnosis snv RBM10 nonsense W756* NM_005676 20-PASVYL RBM10 NONSENSE SNP Somatic 19 0.954 SQHIGH 28 0 28 0 25 25 Cosmic_Gene G A G TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 8241 X 47044942 47044942 150 AML relapse snv PLEKHM3 missense E745K NM_001080475 20-PASWAJ PLEKHM3 MISSENSE SNP Somatic -1 0.104 SQHIGH 5 12 17 0 24 24 Cosmic_Gene C C T C C TARGET-20-PASWAJ-04A-01D TARGET-20-PASWAJ-14A-02D 389072 2 208693096 208693096 21 AML relapse snv SLC27A6 missense F33L NM_014031 20-PASWAJ SLC27A6 MISSENSE SNP Somatic -5 0.070 SQHIGH 9 52 61 0 50 50 C C G C C TARGET-20-PASWAJ-04A-01D TARGET-20-PASWAJ-14A-02D 28965 5 128301929 128301929 25 AML relapse snv CACNG5 silent L145L NM_145811 20-PASWAJ CACNG5 SYNONYMOUS SNP Somatic PFAM:PF00822:PMP22_Claudin -3 0.083 SQHIGH 9 34 43 0 28 28 Cosmic_Gene C C T C C TARGET-20-PASWAJ-04A-01D TARGET-20-PASWAJ-14A-02D 27091 17 64880643 64880643 21 AML relapse snv FAM104B nonsense Q79* NM_138362 20-PASWAJ FAM104B UTR3,NONSENSE,UTR SNP dbsnp.132:rs113263757 Somatic -3 0.083 SQHIGH 8 29 37 0 39 39 G G A G G TARGET-20-PASWAJ-04A-01D TARGET-20-PASWAJ-14A-02D 90736 X 55172630 55172630 27 AML diagnosis snv PLEKHM3 missense E745K NM_001080475 20-PASWAJ PLEKHM3 MISSENSE SNP Somatic -4 0.097 SQHIGH 4 11 15 0 24 24 Cosmic_Gene C C T C C TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 389072 2 208693096 208693096 18 AML diagnosis snv ROBO1 silent G1000G NM_002941 20-PASWAJ ROBO1 SYNONYMOUS SNP Somatic -8 0.070 SQHIGH 3 7 10 0 23 23 Cosmic_Gene T T G T T TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 6091 3 78688931 78688931 17 AML diagnosis snv CEP72 silent Q485Q NM_018140 20-PASWAJ CEP72 SYNONYMOUS SNP Somatic -10 0.060 SQHIGH 3 11 14 0 28 28 Cosmic_Gene A A G A A TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 55722 5 640635 640635 15 AML diagnosis snv SLC27A6 missense F33L NM_014031 20-PASWAJ SLC27A6 MISSENSE SNP Somatic 15 0.716 SQHIGH 24 21 45 0 50 50 C C G C C TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 28965 5 128301929 128301929 97 AML diagnosis snv SLC45A4 missense S138T NM_001080431 20-PASWAJ SLC45A4 MISSENSE SNP Somatic -7 0.076 SQHIGH 4 20 24 0 30 30 Cosmic_Gene C C G C C TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 57210 8 142229793 142229793 15 AML diagnosis snv SMC3 missense R381Q NM_005445 20-PASWAJ SMC3 MISSENSE SNP Somatic 2 0.172 SQHIGH 6 22 28 1 34 35 Cosmic_Gene G G A G G TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 9126 10 112343991 112343991 16 AML diagnosis snv CACNG5 silent L145L NM_145811 20-PASWAJ CACNG5 SYNONYMOUS SNP Somatic PFAM:PF00822:PMP22_Claudin -7 0.076 SQHIGH 8 24 32 0 28 28 Cosmic_Gene C C T C C TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 27091 17 64880643 64880643 24 AML diagnosis snv KIAA0195 missense R486C NM_014738 20-PASWAJ KIAA0195 MISSENSE SNP Somatic -8 0.070 SQHIGH 6 33 39 0 34 34 Cosmic_Gene C C T C C TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 9772 17 73487841 73487841 17 AML diagnosis snv SREBF2 silent P1075P NM_004599 20-PASWAJ SREBF2 SYNONYMOUS SNP Somatic 4 0.208 SQHIGH 11 31 42 1 22 23 Cosmic_Gene C C T C C TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 6721 22 42301463 42301463 16 AML relapse snv SCN3A missense D1593G NM_006922 20-PASWAT SCN3A MISSENSE SNP Somatic PFAM:PF00520:Ion_trans -8 0.051 SQHIGH 7 25 32 0 36 36 Cosmic_Gene T T C T T TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 6328 2 165948793 165948793 25 AML relapse snv PACRG missense E124G NM_152410 20-PASWAT PACRG MISSENSE SNP Somatic PFAM:PF10274:ParcG -10 0.044 SQHIGH 7 32 39 1 48 49 A A G A A TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 135138 6 163483261 163483261 19 AML relapse snv TM7SF2 missense Y373S NM_003273 20-PASWAT TM7SF2 MISSENSE SNP Somatic PFAM:PF04140:ICMT -7 0.056 SQHIGH 4 8 12 0 34 34 Cosmic_Gene A A C A A TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 7108 11 64883386 64883386 25 AML relapse snv FXR2 splice_region L181_E6splice_region NM_004860 20-PASWAT FXR2 INTRON SNP Somatic -2 0.085 SQHIGH 5 31 36 0 54 54 T T G T T TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 9513 17 7506218 7506218 21 AML relapse snv HDAC5 splice_region D8_E3splice_region NM_005474 20-PASWAT HDAC5 ACCEPTOR SNP Somatic -4 0.071 SQHIGH 3 26 29 0 54 54 Cosmic_Gene A A T A A TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 10014 17 42188175 42188175 14 AML relapse snv HDAC5 splice_region D8_E3splice_region NM_005474 20-PASWAT HDAC5 ACCEPTOR SNP Somatic -4 0.071 SQHIGH 3 26 29 0 53 53 Cosmic_Gene A A C A A TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 10014 17 42188178 42188178 14 AML relapse snv ANKFN1 missense L107P NM_153228 20-PASWAT ANKFN1 MISSENSE SNP Somatic -7 0.056 SQHIGH 9 27 36 0 44 44 Cosmic_Gene T T C T T TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 162282 17 54428249 54428249 34 AML relapse snv NCOA6 missense P458L NM_014071 20-PASWAT NCOA6 MISSENSE SNP Somatic PFAM:PF09770:PAT1 5 0.170 SQHIGH 6 19 25 2 41 43 Cosmic_Gene G G A G G TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 23054 20 33345178 33345178 16 AML relapse snv MORC2 nonsense R28* NM_014941 20-PASWAT MORC2 NONSENSE SNP Somatic -4 0.071 SQHIGH 4 18 22 0 26 26 Cosmic_Gene G G A G G TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 22880 22 31345787 31345787 14 AML relapse complex CLTCL1 frameshift I559_Q560fs NM_007098 20-PASWAT CLTCL1 FRAMESHIFT Sub Somatic -8 0.284 SQHIGH 5 29 34 0 63 63 Cosmic_Gene TGAAT TGAAT TAAGGA TGAAT TGAAT TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 8218 22 19217464 19217468 24 AML diagnosis snv HMCN1 silent N3084N NM_031935 20-PASWAT HMCN1 SYNONYMOUS SNP Somatic PFAM:PF00047:ig 14 0.516 SQHIGH 18 16 34 0 35 35 Cosmic_Gene C C T C C TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 83872 1 186056666 186056666 69 AML diagnosis snv MFSD4 missense L240M NM_181644 20-PASWAT MFSD4 MISSENSE SNP Somatic -6 0.061 SQHIGH 4 5 9 0 10 10 Cosmic_Gene C C A C C TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 148808 1 205553110 205553110 15 AML diagnosis snv MYLK silent N428N NM_053025 20-PASWAT MYLK SYNONYMOUS SNP Somatic PFAM:PF00047:ig -8 0.052 SQHIGH 7 37 44 3 80 83 Cosmic_Gene A A G A A TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 4638 3 123452559 123452559 17 AML diagnosis snv HEG1 missense Q683H NM_020733 20-PASWAT HEG1 MISSENSE SNP Somatic 14 0.516 SQHIGH 26 29 55 1 54 55 Cosmic_Gene T T A T T TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 57493 3 124732374 124732374 83 AML diagnosis snv ADH1B missense V319L NM_000668 20-PASWAT ADH1B MISSENSE SNP Somatic 8 0.234 SQHIGH 18 21 39 1 48 49 Cosmic_Gene C C G C C TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 125 4 100232687 100232687 65 AML diagnosis snv CSMD1 missense E552G NM_033225 20-PASWAT CSMD1 MISSENSE SNP Somatic -7 0.056 SQHIGH 6 20 26 0 23 23 Cosmic_Gene T T C T T TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 64478 8 3267034 3267034 18 AML diagnosis snv CTNNA3 missense A315G NM_013266 20-PASWAT CTNNA3 MISSENSE SNP Somatic PFAM:PF01044:Vinculin -9 0.048 SQHIGH 5 26 31 0 26 26 Cosmic_Gene G G C G G TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 29119 10 68940178 68940178 14 AML diagnosis snv EAPP missense N2S NM_018453 20-PASWAT EAPP|LOC100506143 MISSENSE|TSS-UPSTREAM SNP Somatic 10 0.296 SQHIGH 8 21 29 0 27 27 Cosmic_Gene T T C T T TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 55837|100506143 14 35008830 35008830 25 AML diagnosis snv SHC4 missense L117P NM_203349 20-PASWAT SHC4 MISSENSE SNP Somatic -7 0.056 SQHIGH 13 39 52 2 39 41 Cosmic_Gene A A G A A TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 399694 15 49254863 49254863 21 AML diagnosis snv ZNF646 missense P1160T NM_014699 20-PASWAT ZNF646 MISSENSE SNP Somatic -4 0.071 SQHIGH 6 43 49 1 58 59 Cosmic_Gene C C A C C TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 9726 16 31091123 31091123 15 AML diagnosis snv PLEKHA4 splice_region K28_E2splice_region NM_020904 20-PASWAT PPP1R15A|PLEKHA4 TSS-UPSTREAM|DONOR SNP Somatic -5 0.066 SQHIGH 6 23 29 0 28 28 Cosmic_Gene T T C T T TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 23645|57664 19 49370788 49370788 19 AML diagnosis snv RRBP1 missense Q480R NM_001042576 20-PASWAT RRBP1 MISSENSE SNP Somatic -8 0.052 SQHIGH 4 10 14 0 19 19 Cosmic_Gene T T C T T TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 6238 20 17610479 17610479 16 AML diagnosis snv ZNF334 missense S669P NM_018102 20-PASWAT ZNF334 MISSENSE SNP Somatic -11 0.041 7 32 39 1 44 45 Cosmic_Gene A A G A A TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 55713 20 45129973 45129973 18 AML diagnosis mnv ZNF592 nonsense Y768_C769>*S NM_014630 20-PASWAT ZNF592 NONSENSE Sub Somatic -9 0.276 SQHIGH 7 21 28 1 33 34 Cosmic_Gene CTG CTG GTC CTG CTG TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 9640 15 85334019 85334021 19 AML relapse snv AGO4 missense M90I NM_017629 20-PASWLN AGO4 MISSENSE SNP Somatic 14 0.568 SQHIGH 11 22 33 0 26 26 Cosmic_Gene G G T G G TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 192670 1 36288547 36288547 32 AML relapse snv PTGFRN missense V393M NM_020440 20-PASWLN PTGFRN MISSENSE SNP Somatic 10 0.334 SQHIGH 25 28 53 0 37 37 Cosmic_Gene G G A G G TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 5738 1 117492158 117492158 71 AML relapse snv GATA2 missense R396Q NM_001145661 20-PASWLN GATA2 MISSENSE SNP Somatic 11 0.377 SQHIGH 16 26 42 0 55 55 Cosmic_Gene C C T C C TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 2624 3 128200118 128200118 67 AML relapse snv IFT122 missense L1025I NM_052985 20-PASWLN IFT122 MISSENSE SNP Somatic 8 0.264 SQHIGH 17 16 33 0 30 30 Cosmic_Gene C C A C C TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 55764 3 129231188 129231188 59 AML relapse snv PTTG2 missense I11M NM_006607 20-PASWLN TBC1D1|PTTG2 INTRON|MISSENSE SNP Somatic PFAM:PF04856:Securin 15 0.661 SQHIGH 22 21 43 1 54 55 Cosmic_Gene T T G T T TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 23216|10744 4 37962088 37962088 84 AML relapse snv PANO missense R17L NM_001293167 20-PASWLN SLC25A22 INTRON,TSS-UPSTREAM,UTR5 SNP Somatic 7 0.236 SQHIGH 17 25 42 0 34 34 G G T G G TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 79751 11 797675 797675 52 AML relapse snv SLC1A2 missense R36G NM_004171 20-PASWLN SLC1A2 MISSENSE SNP Somatic 1 0.124 SQHIGH 5 26 31 0 32 32 Cosmic_Gene G G C G G TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 6506 11 35338975 35338975 16 AML relapse snv RCE1 missense T123P NM_005133 20-PASWLN RCE1 MISSENSE SNP Somatic 7 0.236 SQHIGH 5 23 28 0 28 28 Cosmic_Gene A A C A A TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 9986 11 66611505 66611505 16 AML relapse snv STAT6 splice W39_E2splice NM_003153 20-PASWLN STAT6 DISRUPT,INTRON SNP Somatic -5 0.073 SQHIGH 3 15 18 0 31 31 Cosmic_Gene A A T A A TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 6778 12 57501944 57501944 14 AML relapse snv RHBDF1 silent F781F NM_022450 20-PASWLN POLR3K|RHBDF1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF01694:Rhomboid 20 0.994 SQHIGH 19 17 36 0 67 67 Cosmic_Gene G G A G G TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 51728|64285 16 108564 108564 105 AML relapse snv CLEC4M missense T338R NM_014257 20-PASWLN CLEC4M INTRON,MISSENSE,UTR SNP Somatic -3 0.085 SQHIGH 11 45 56 0 53 53 Cosmic_Gene C C G C C TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 10332 19 7832478 7832478 34 AML relapse mnv IGSF22 missense G1227_Q1228>VK NM_173588 20-PASWLN IGSF22 MISSENSE Sub Somatic -8 0.301 SQHIGH 17 55 72 0 38 38 Cosmic_Gene GGC GGC TCA GGC GGC TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 283284 11 18727592 18727594 35 AML relapse mnv VWCE missense C739_S740>FP NM_152718 20-PASWLN VWCE MISSENSE Sub Somatic -8 0.301 SQHIGH 7 21 28 1 36 37 Cosmic_Gene AGC AGC GGA AGC AGC TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 220001 11 61031971 61031973 20 AML relapse mnv MYO15A missense D915_S916>DG NM_016239 20-PASWLN MYO15A MISSENSE Sub Somatic -9 0.285 SQHIGH 4 18 22 0 23 23 Cosmic_Gene CTC CTC TGG CTC CTC TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 51168 17 18024859 18024861 13 AML relapse mnv CHADL missense S628_G629>RS NM_138481 20-PASWLN CHADL MISSENSE Sub Somatic -6 0.341 SQHIGH 5 22 27 0 22 22 CA CA TC CA CA TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 150356 22 41633191 41633192 14 AML diagnosis snv AGO4 missense M90I NM_017629 20-PASWLN AGO4 MISSENSE SNP Somatic 11 0.373 SQHIGH 15 25 40 0 26 26 Cosmic_Gene G G T G G TARGET-20-PASWLN-09A-01D TARGET-20-PASWLN-14A-01D 192670 1 36288547 36288547 38 AML diagnosis snv PTGFRN missense V393M NM_020440 20-PASWLN PTGFRN MISSENSE SNP Somatic 10 0.329 SQHIGH 16 28 44 0 37 37 Cosmic_Gene G G A G G TARGET-20-PASWLN-09A-01D TARGET-20-PASWLN-14A-01D 5738 1 117492158 117492158 49 AML diagnosis snv CLEC4F missense V451F NM_173535 20-PASWLN CLEC4F MISSENSE SNP Somatic 2 0.131 SQHIGH 15 65 80 1 50 51 Cosmic_Gene C C A C C TARGET-20-PASWLN-09A-01D TARGET-20-PASWLN-14A-01D 165530 2 71043162 71043162 26 AML diagnosis snv GATA2 missense R396Q NM_001145661 20-PASWLN GATA2 MISSENSE SNP Somatic 10 0.329 SQHIGH 25 31 56 0 55 55 Cosmic_Gene C C T C C TARGET-20-PASWLN-09A-01D TARGET-20-PASWLN-14A-01D 2624 3 128200118 128200118 89 AML diagnosis snv IFT122 missense L1025I NM_052985 20-PASWLN IFT122 MISSENSE SNP Somatic 8 0.259 SQHIGH 25 14 39 0 30 30 Cosmic_Gene C C A C C TARGET-20-PASWLN-09A-01D TARGET-20-PASWLN-14A-01D 55764 3 129231188 129231188 84 AML diagnosis snv SOD3 silent R232R NM_003102 20-PASWLN SOD3 SYNONYMOUS SNP Somatic -7 0.058 SQHIGH 4 13 17 0 25 25 G G C G G TARGET-20-PASWLN-09A-01D TARGET-20-PASWLN-14A-01D 6649 4 24801839 24801839 17 AML diagnosis snv PANO missense R17L NM_001293167 20-PASWLN SLC25A22 INTRON,TSS-UPSTREAM,UTR5 SNP Somatic 7 0.231 SQHIGH 21 21 42 0 34 34 G G T G G TARGET-20-PASWLN-09A-01D TARGET-20-PASWLN-14A-01D 79751 11 797675 797675 67 AML diagnosis snv RHBDF1 silent F781F NM_022450 20-PASWLN POLR3K|RHBDF1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF01694:Rhomboid 7 0.231 SQHIGH 20 31 51 0 67 67 Cosmic_Gene G G A G G TARGET-20-PASWLN-09A-01D TARGET-20-PASWLN-14A-01D 51728|64285 16 108564 108564 84 AML relapse snv DPYSL5 missense A291V NM_020134 20-PASWPD DPYSL5 MISSENSE SNP Somatic 3 0.170 SQHIGH 10 34 44 1 55 56 Cosmic_Gene C C T C C TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 56896 2 27157527 27157527 30 AML relapse snv C6orf118 silent C30C NM_144980 20-PASWPD C6orf118 SYNONYMOUS SNP Somatic 5 0.206 SQHIGH 20 30 50 2 45 47 G G A G G TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 168090 6 165715721 165715721 48 AML relapse snv FLNC missense R334C NM_001458 20-PASWPD FLNC MISSENSE SNP Somatic PFAM:PF00630:Filamin 1 0.141 SQHIGH 11 52 63 0 59 59 Cosmic_Gene C C T C C TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 2318 7 128478071 128478071 34 AML relapse snv CTSF missense G306S NM_003793 20-PASWPD CTSF MISSENSE SNP Somatic -10 0.052 SQHIGH 8 45 53 0 60 60 C C T C C TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 8722 11 66333350 66333350 28 AML relapse snv SCAF11 missense T282N NM_004719 20-PASWPD SCAF11 MISSENSE SNP Somatic 10 0.365 SQHIGH 10 32 42 0 23 23 Cosmic_Gene G G T G G TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 9169 12 46322639 46322639 21 AML relapse snv TP53 missense R248W NM_000546 20-PASWPD TP53 MISSENSE SNP dbsnp.133:rs121912651 Somatic -2 0.105 SQHIGH 7 33 40 0 62 62 COSMIC:mut:10656 Cosmic_Gene G G A G G TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 7157 17 7577539 7577539 30 AML relapse snv ARHGAP44 silent G627G NM_014859 20-PASWPD ARHGAP44 SYNONYMOUS SNP Somatic -6 0.074 SQHIGH 10 38 48 0 38 38 Cosmic_Gene C C T C C TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 9912 17 12883492 12883492 27 AML relapse complex TEX264 proteinIns S106>SF NM_015926 20-PASWPD TEX264 INSERT+,UTR Sub Somatic -5 0.365 SQHIGH 25 75 100 2 89 91 CG CG CTTCC CG CG TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 51368 3 51718487 51718488 57 AML diagnosis snv DPYSL5 missense A291V NM_020134 20-PASWPD DPYSL5 MISSENSE SNP Somatic -9 0.053 SQHIGH 7 43 50 1 55 56 Cosmic_Gene C C T C C TARGET-20-PASWPD-09A-01D TARGET-20-PASWPD-14A-02D 56896 2 27157527 27157527 17 AML diagnosis snv TLR9 silent L952L NM_017442 20-PASWPD TLR9 SYNONYMOUS SNP Somatic PFAM:PF01582:TIR -2 0.097 SQHIGH 7 11 18 0 16 16 Cosmic_Gene G G A G G TARGET-20-PASWPD-09A-01D TARGET-20-PASWPD-14A-02D 54106 3 52255478 52255478 22 AML diagnosis snv LOC101928052 EXON E2_exon NM_020116 20-PASWPT FSTL5 INTRON SNP Somatic 11 0.344 SQHIGH 11 30 41 0 25 25 Cosmic_Gene C C T C C TARGET-20-PASWPT-09A-01D TARGET-20-PASWPT-14A-01D 56884 4 162963170 162963170 25 AML diagnosis snv STEAP1B silent N25N NM_001164460 20-PASWPT STEAP1B SYNONYMOUS SNP Somatic -2 0.090 SQHIGH 6 14 20 0 30 30 G G A G G TARGET-20-PASWPT-09A-01D TARGET-20-PASWPT-14A-01D 256227 7 22534400 22534400 26 AML diagnosis snv INPP5A missense S364L NM_005539 20-PASWPT INPP5A MISSENSE SNP Somatic 19 0.924 SQHIGH 17 17 34 0 26 26 Cosmic_Gene C C T C C TARGET-20-PASWPT-09A-01D TARGET-20-PASWPT-14A-01D 3632 10 134594354 134594354 52 AML diagnosis snv OTOG silent F463F NM_001277269 20-PASWPT OTOG SYNONYMOUS SNP Somatic PFAM:PF01826:TIL 9 0.273 SQHIGH 18 28 46 0 69 69 Cosmic_Gene C C T C C TARGET-20-PASWPT-09A-01D TARGET-20-PASWPT-14A-01D 340990 11 17582266 17582266 82 AML diagnosis snv SLC7A7 silent V423V NM_001126105 20-PASWPT SLC7A7 SYNONYMOUS SNP Somatic PFAM:PF01490:Aa_trans -21 0.015 4 50 54 0 59 59 Cosmic_Gene G G A G G TARGET-20-PASWPT-09A-01D TARGET-20-PASWPT-14A-01D 9056 14 23243302 23243302 13 AML diagnosis snv BTBD17 nonsense W16* NM_001080466 20-PASWPT BTBD17 NONSENSE SNP Somatic 10 0.307 SQHIGH 18 30 48 0 51 51 C C T C C TARGET-20-PASWPT-09A-01D TARGET-20-PASWPT-14A-01D 388419 17 72357912 72357912 65 AML diagnosis snv LOC101928295 EXON E4_exon NM_014419 20-PASWPT DKKL1 INTRON SNP Somatic 16 0.668 SQHIGH 12 26 38 0 38 38 G G T G G TARGET-20-PASWPT-09A-01D TARGET-20-PASWPT-14A-01D 27120 19 49872697 49872697 41 AML relapse snv DCAF4L1 missense H269P NM_001029955 20-PASXNR DCAF4L1 MISSENSE SNP Somatic PFAM:PF00400:WD40 6 0.215 SQHIGH 7 25 32 1 39 40 Cosmic_Gene A A C A A TARGET-20-PASXNR-04A-01D TARGET-20-PASXNR-14A-01D 285429 4 41984615 41984615 19 AML relapse snv BAIAP2L2 missense V459A NM_025045 20-PASXNR SLC16A8|BAIAP2L2 TSS-UPSTREAM|MISSENSE SNP Somatic -8 0.050 SQHIGH 5 17 22 0 19 19 Cosmic_Gene A A G A A TARGET-20-PASXNR-04A-01D TARGET-20-PASXNR-14A-01D 23539|80115 22 38482340 38482340 15 AML diagnosis snv ADAMTS9-AS1 EXON E30_exon NM_182920 20-PASXNR ADAMTS9-AS1|ADAMTS9 TSS-UPSTREAM|INTRON SNP Somatic -1 0.117 SQHIGH 26 42 68 0 42 42 Cosmic_Gene G G A G G TARGET-20-PASXNR-09A-03D TARGET-20-PASXNR-14A-01D 100507082|56999 3 64547055 64547055 64 AML diagnosis snv GSDMD missense Q165R NM_024736 20-PASXNR GSDMD MISSENSE SNP Somatic PFAM:PF04598:Gasdermin -6 0.078 SQHIGH 4 11 15 0 16 16 A A G A A TARGET-20-PASXNR-09A-03D TARGET-20-PASXNR-14A-01D 79792 8 144642856 144642856 14 AML diagnosis snv KCNK10 missense G30R NM_021161 20-PASXNR KCNK10 MISSENSE SNP Somatic 4 0.188 SQHIGH 21 20 41 0 19 19 Cosmic_Gene C C T C C TARGET-20-PASXNR-09A-03D TARGET-20-PASXNR-14A-01D 54207 14 88729845 88729845 45 AML diagnosis snv FGGY silent H276H NM_001113411 20-PASXYG FGGY SYNONYMOUS SNP dbsnp.134:rs148643213 Somatic 6 0.209 SQHIGH 20 32 52 0 42 42 Cosmic_Gene C C T C C TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 55277 1 60019824 60019824 60 AML diagnosis snv RCSD1 missense Q194K NM_052862 20-PASXYG RCSD1 MISSENSE SNP Somatic -8 0.058 SQHIGH 4 18 22 0 26 26 Cosmic_Gene C C A C C TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 92241 1 167666441 167666441 14 AML diagnosis snv C2orf43 missense R74H NM_021925 20-PASXYG C2orf43 MISSENSE SNP Somatic PFAM:PF06342:DUF1057 PFAM:PF12697:Abhydrolase_6 5 0.187 SQHIGH 20 27 47 0 34 34 C C T C C TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 60526 2 20990092 20990092 57 AML diagnosis snv LOC101929570 EXON E2_exon NM_033272 20-PASXYG KCNH7 INTRON SNP Somatic 11 0.363 SQHIGH 13 13 26 0 22 22 Cosmic_Gene C C T C C TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 90134 2 163641167 163641167 43 AML diagnosis snv ITGA1 nonsense R315* NM_181501 20-PASXYG ITGA1 NONSENSE SNP Somatic 3 0.155 SQHIGH 7 15 22 0 34 34 Cosmic_Gene C C T C C TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 3672 5 52189524 52189524 31 AML diagnosis snv FOXP2 missense A680E NM_014491 20-PASXYG FOXP2 MISSENSE,UTR SNP Somatic 14 0.542 SQHIGH 19 22 41 0 29 29 Cosmic_Gene C C A C C TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 93986 7 114329872 114329872 54 AML diagnosis snv TBX10 missense R30Q NM_005995 20-PASXYG TBX10 MISSENSE SNP Somatic 9 0.288 SQHIGH 14 31 45 0 37 37 C C T C C TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 347853 11 67402653 67402653 41 AML diagnosis snv MANSC1 silent T164T NM_018050 20-PASXYG MANSC1 SYNONYMOUS SNP Somatic 12 0.411 SQHIGH 16 24 40 0 37 37 G G A G G TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 54682 12 12483765 12483765 53 AML diagnosis snv FLT3 missense D835N NM_004119 20-PASXYG FLT3 MISSENSE SNP dbsnp.133:rs121913488 Somatic PFAM:PF03109:ABC1 -7 0.064 SQHIGH 5 29 34 0 51 51 COSMIC:mut:789 Cosmic_Gene C C T C C TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 2322 13 28592642 28592642 21 AML diagnosis snv VPS33B missense F3L NM_018668 20-PASXYG VPS33B MISSENSE SNP Somatic 3 0.155 SQHIGH 15 27 42 0 33 33 Cosmic_Gene A A T A A TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 26276 15 91565471 91565471 44 AML diagnosis snv CHGB missense D145G NM_001819 20-PASXYG CHGB MISSENSE SNP Somatic PFAM:PF01271:Granin 13 0.469 SQHIGH 19 28 47 0 52 52 Cosmic_Gene A A G A A TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 1114 20 5903224 5903224 72 AML relapse snv PGA5 splice_region S258_E7splice_region NM_014224 20-PASYJI PGA5 ACCEPTOR SNP Somatic -4 0.093 SQHIGH 11 43 54 2 56 58 Cosmic_Gene A A G A A TARGET-20-PASYJI-04A-01D TARGET-20-PASYJI-14A-02D 5222 11 61017133 61017133 23 AML relapse snv PGA5 missense T265A NM_014224 20-PASYJI PGA5 MISSENSE SNP dbsnp.83:rs470947 Somatic PFAM:PF00026:Asp -3 0.101 SQHIGH 8 41 49 0 52 52 Cosmic_Gene A A G A A TARGET-20-PASYJI-04A-01D TARGET-20-PASYJI-14A-02D 5222 11 61017160 61017160 27 AML relapse mnv VRTN missense R528_F529>RP NM_018228 20-PASYJI VRTN MISSENSE Sub Somatic -10 0.293 SQHIGH 7 33 40 0 41 41 Cosmic_Gene CTT CTT ACC CTT CTT TARGET-20-PASYJI-04A-01D TARGET-20-PASYJI-14A-02D 55237 14 74825070 74825072 23 AML diagnosis snv FAM111A silent S178S NM_022074 20-PASYJI FAM111A SYNONYMOUS SNP Somatic 16 0.798 SQHIGH 27 32 59 0 40 40 Cosmic_Gene G G A G G TARGET-20-PASYJI-09A-03D TARGET-20-PASYJI-14A-02D 63901 11 58919675 58919675 75 AML diagnosis snv LOC100335030 EXON E2_exon NM_023071 20-PASYJI SPATS2|LOC100335030 INTRON|UTR SNP Somatic 3 0.170 SQHIGH 4 14 18 0 24 24 Cosmic_Gene G G A G G TARGET-20-PASYJI-09A-03D TARGET-20-PASYJI-14A-02D 65244|100335030 12 49783674 49783674 16 AML diagnosis snv LOC100335030 EXON E2_exon NM_023071 20-PASYJI SPATS2|LOC100335030 INTRON|UTR SNP Somatic 2 0.152 SQHIGH 4 12 16 0 26 26 Cosmic_Gene A A G A A TARGET-20-PASYJI-09A-03D TARGET-20-PASYJI-14A-02D 65244|100335030 12 49783677 49783677 18 AML diagnosis snv RFX4 missense M50K NM_032491 20-PASYJI LOC100505978|RFX4|LOC100287944 TSS-UPSTREAM|MISSENSE|INTRON SNP Somatic 14 0.651 SQHIGH 27 27 54 0 44 44 Cosmic_Gene T T A T T TARGET-20-PASYJI-09A-03D TARGET-20-PASYJI-14A-02D 100505978|5992|100287944 12 107080715 107080715 87 AML diagnosis snv CDK5RAP1 silent H33H NM_016408 20-PASYJI CDK5RAP1 SYNONYMOUS,INTRON SNP Somatic -7 0.060 SQHIGH 4 11 15 0 18 18 Cosmic_Gene G G A G G TARGET-20-PASYJI-09A-03D TARGET-20-PASYJI-14A-02D 51654 20 31984772 31984772 15 AML diagnosis snv CDCP2 missense G372R NM_201546 20-PASZLJ CDCP2 MISSENSE SNP dbsnp.134:rs146671242 Somatic 14 0.681 SQHIGH 14 10 24 0 33 33 Cosmic_Gene C C T C C TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 200008 1 54605429 54605429 66 AML diagnosis snv NRAS missense G13D NM_002524 20-PASZLJ NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic -4 0.105 SQHIGH 17 20 37 4 37 41 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 4893 1 115258744 115258744 35 AML diagnosis snv PSD4 missense E426Q NM_012455 20-PASZLJ PSD4 MISSENSE SNP Somatic 16 0.803 SQHIGH 23 20 43 0 53 53 Cosmic_Gene G G C G G TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 23550 2 113943480 113943480 100 AML diagnosis snv ALS2CL missense M693I NM_147129 20-PASZLJ ALS2CL MISSENSE,UTR SNP Somatic 14 0.681 SQHIGH 16 23 39 0 59 59 Cosmic_Gene C C T C C TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 259173 3 46717842 46717842 74 AML diagnosis snv ARHGAP24 missense P330T NM_001025616 20-PASZLJ ARHGAP24 MISSENSE SNP Somatic -32 0.007 3 13 16 0 40 40 C C A C C TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 83478 4 86915795 86915795 17 AML diagnosis snv KLKB1 missense Q473P NM_000892 20-PASZLJ KLKB1 MISSENSE SNP Somatic -10 0.065 SQHIGH 7 37 44 0 43 43 Cosmic_Gene A A C A A TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 3818 4 187175846 187175846 22 AML diagnosis snv LOC101927870 EXON E1_exon NM_198999 20-PASZLJ SLC26A5 INTRON SNP Somatic -10 0.065 SQHIGH 4 8 12 0 19 19 Cosmic_Gene C C T C C TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 375611 7 103086476 103086476 18 AML diagnosis snv SLC13A4 missense V17I NM_012450 20-PASZLJ SLC13A4 MISSENSE SNP Somatic 4 0.227 SQHIGH 13 5 18 0 16 16 C C T C C TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 26266 7 135412196 135412196 50 AML diagnosis snv SOX5 missense R118Q NM_006940 20-PASZLJ SOX5 MISSENSE SNP Somatic 12 0.544 SQHIGH 15 11 26 0 26 26 Cosmic_Gene C C T C C TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 6660 12 23999045 23999045 58 AML diagnosis snv CATSPERB missense R917W NM_024764 20-PASZLJ CATSPERB MISSENSE SNP Somatic -23 0.019 3 13 16 0 35 35 Cosmic_Gene G G A G G TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 79820 14 92058307 92058307 16 AML diagnosis snv A1BG missense M123I NM_130786 20-PASZLJ A1BG|A1BG-AS1 MISSENSE|UTR SNP Somatic PFAM:PF00047:ig 12 0.544 SQHIGH 8 4 12 0 24 24 C C T C C TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 1|503538 19 58863893 58863893 48 AML relapse snv ARHGEF16 missense Q661E NM_014448 20-PASZZE ARHGEF16 MISSENSE SNP Somatic -1 0.130 SQHIGH 4 21 25 0 35 35 Cosmic_Gene C C G C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 27237 1 3396468 3396468 16 AML relapse snv EPHA8 missense R448H NM_001006943 20-PASZZE EPHA8 INTRON,MISSENSE SNP Somatic 8 0.337 SQHIGH 24 28 52 1 45 46 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 2046 1 22915727 22915727 68 AML relapse snv PRPF38B missense S473I NM_018061 20-PASZZE PRPF38B MISSENSE,UTR SNP Somatic -6 0.084 SQHIGH 7 53 60 2 74 76 G G T G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 55119 1 109242419 109242419 14 AML relapse snv ZBTB41 missense F513V NM_194314 20-PASZZE ZBTB41 MISSENSE SNP Somatic 14 0.659 SQHIGH 11 16 27 0 35 35 Cosmic_Gene A A C A A TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 360023 1 197157431 197157431 46 AML relapse snv APOB silent N2785N NM_000384 20-PASZZE APOB SYNONYMOUS SNP Somatic 6 0.271 SQHIGH 26 40 66 0 75 75 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 338 2 21231385 21231385 100 AML relapse snv CCDC85A missense G385S NM_001080433 20-PASZZE CCDC85A MISSENSE SNP Somatic -7 0.076 SQHIGH 7 41 48 0 49 49 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 114800 2 56420488 56420488 22 AML relapse snv CCDC142 silent V181V NM_032779 20-PASZZE CCDC142|TTC31 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 6 0.271 SQHIGH 22 22 44 0 35 35 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 84865|64427 2 74709422 74709422 70 AML relapse snv ARL5A nonsense R179* NM_012097 20-PASZZE ARL5A NONSENSE SNP Somatic 11 0.466 SQHIGH 9 11 20 0 34 34 T T A T T TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 26225 2 152659795 152659795 45 AML relapse snv CELSR3 missense A2552S NM_001407 20-PASZZE CELSR3|MIR4793 MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.144 SQHIGH 7 27 34 0 37 37 Cosmic_Gene C C A C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 1951|100616112 3 48683019 48683019 24 AML relapse snv GC missense R21Q NM_000583 20-PASZZE GC MISSENSE SNP dbsnp.132:rs117925738 Somatic 6 0.271 SQHIGH 15 37 52 0 36 36 Cosmic_Gene C C T C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 2638 4 72635114 72635114 39 AML relapse snv PCDH10 silent N624N NM_032961 20-PASZZE PCDH10 SYNONYMOUS SNP Somatic -7 0.076 SQHIGH 9 68 77 1 57 58 Cosmic_Gene C C T C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 57575 4 134073167 134073167 16 AML relapse snv FAT1 missense R3053C NM_005245 20-PASZZE FAT1 MISSENSE SNP Somatic 6 0.271 SQHIGH 10 28 38 0 24 24 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 2195 4 187535417 187535417 24 AML relapse snv HLA-DRB5 missense Y61H NM_002125 20-PASZZE HLA-DRB5 MISSENSE SNP dbsnp.134:rs137863146 Somatic PFAM:PF00969:MHC_II_beta 3 0.192 SQHIGH 8 3 11 1 37 38 A A G A A TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 3127 6 32489871 32489871 55 AML relapse snv CNR1 missense A248T NM_016083 20-PASZZE CNR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 4 0.213 SQHIGH 14 42 56 0 51 51 Cosmic_Gene C C T C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 1268 6 88854252 88854252 43 AML relapse snv MLLT4 nonsense R1625* NM_001040000 20-PASZZE MLLT4 NONSENSE SNP Somatic -2 0.118 SQHIGH 8 32 40 0 41 41 Cosmic_Gene C C T C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 4301 6 168363179 168363179 26 AML relapse snv TRRAP missense E3107K NM_003496 20-PASZZE TRRAP MISSENSE SNP Somatic PFAM:PF02259:FAT 4 0.213 SQHIGH 19 31 50 0 44 44 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 8295 7 98586392 98586392 61 AML relapse snv AKR1B10 missense T82S NM_020299 20-PASZZE AKR1B10 MISSENSE SNP Somatic PFAM:PF00248:Aldo_ket_red -1 0.130 SQHIGH 6 33 39 0 62 62 Cosmic_Gene C C G C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 57016 7 134216670 134216670 26 AML relapse snv LOC100132891 EXON E12_exon NM_007332 20-PASZZE TRPA1|LOC100132891 INTRON|UTR SNP Somatic -10 0.061 SQHIGH 4 14 18 0 26 26 Cosmic_Gene C C T C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 8989|100132891 8 72967456 72967456 16 AML relapse snv GPR158 missense R1065H NM_020752 20-PASZZE GPR158 MISSENSE SNP Somatic 1 0.157 SQHIGH 29 43 72 1 42 43 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 57512 10 25887749 25887749 59 AML relapse snv GRID1 missense G503R NM_017551 20-PASZZE GRID1 MISSENSE SNP Somatic 7 0.303 SQHIGH 22 53 75 1 69 70 Cosmic_Gene C C T C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 2894 10 87487638 87487638 59 AML relapse snv GPR123 silent F301F NM_001083909 20-PASZZE GPR123 SYNONYMOUS SNP dbsnp.134:rs138862408 Somatic 12 0.524 SQHIGH 11 20 31 0 42 42 C C T C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 84435 10 134942235 134942235 46 AML relapse snv OR51G1 missense V128I NM_001005237 20-PASZZE OR51G1 MISSENSE SNP dbsnp.132:rs111446872 Somatic PFAM:PF00001:7tm_1 6 0.271 SQHIGH 19 37 56 0 55 55 Cosmic_Gene C C T C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 79324 11 4945188 4945188 64 AML relapse snv EFS missense E410K NM_005864 20-PASZZE EFS MISSENSE SNP Somatic PFAM:PF12026:DUF3513 15 0.730 SQHIGH 12 21 33 0 47 47 Cosmic_Gene C C T C C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 10278 14 23828108 23828108 52 AML relapse snv RYR3 silent L379L NM_001036 20-PASZZE RYR3 SYNONYMOUS SNP Somatic PFAM:PF02815:MIR 0 0.144 SQHIGH 13 20 33 0 49 49 Cosmic_Gene A A G A A TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 6263 15 33855202 33855202 59 AML relapse snv MVD missense F271V NM_002461 20-PASZZE MVD|CYBA MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00288:GHMP_kinases_N 10 0.418 SQHIGH 11 31 42 0 61 61 A A C A A TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 4597|1535 16 88721693 88721693 47 AML relapse snv TP53 missense R248W NM_000546 20-PASZZE TP53 MISSENSE SNP dbsnp.133:rs121912651 Somatic 15 0.730 SQHIGH 16 10 26 0 54 54 COSMIC:mut:10656 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 7157 17 7577539 7577539 97 AML relapse snv DNAH2 missense V3443M NM_020877 20-PASZZE DNAH2 MISSENSE SNP Somatic PFAM:PF12781:AAA_9 18 0.916 SQHIGH 23 5 28 0 66 66 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 146754 17 7721354 7721354 167 AML relapse snv LAMA1 missense C1434G NM_005559 20-PASZZE LAMA1 MISSENSE SNP Somatic PFAM:PF00053:Laminin_EGF 13 0.585 SQHIGH 10 20 30 0 32 32 Cosmic_Gene A A C A A TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 284217 18 7002345 7002345 36 AML relapse snv PIWIL3 missense N202D NM_001008496 20-PASZZE PIWIL3 MISSENSE SNP Somatic 0 0.144 SQHIGH 6 16 22 0 37 37 Cosmic_Gene T T C T T TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 440822 22 25151839 25151839 28 AML relapse snv CELSR1 missense R376C NM_014246 20-PASZZE CELSR1 MISSENSE SNP Somatic 12 0.524 SQHIGH 13 25 38 0 78 78 Cosmic_Gene G G A G G TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 9620 22 46931942 46931942 70 AML relapse snv TBX22 splice H211H NM_001109878 20-PASZZE TBX22 SYNONYMOUS SNP Somatic PFAM:PF00907:T-box 19 0.966 SQHIGH 26 4 30 0 28 28 Cosmic_Gene C T C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 50945 X 79281276 79281276 119 AML diagnosis snv EPHA8 missense R448H NM_001006943 20-PASZZE EPHA8 INTRON,MISSENSE SNP Somatic 15 0.723 SQHIGH 21 18 39 1 45 46 Cosmic_Gene G G A G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 2046 1 22915727 22915727 76 AML diagnosis snv ZBTB41 missense F513V NM_194314 20-PASZZE ZBTB41 MISSENSE SNP Somatic 16 0.787 SQHIGH 21 14 35 0 35 35 Cosmic_Gene A A C A A TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 360023 1 197157431 197157431 82 AML diagnosis snv OR2M4 missense R234L NM_017504 20-PASZZE OR2M4 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -4 0.096 SQHIGH 4 28 32 0 37 37 Cosmic_Gene G G T G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 26245 1 248402931 248402931 14 AML diagnosis snv APOB silent N2785N NM_000384 20-PASZZE APOB SYNONYMOUS SNP Somatic 10 0.414 SQHIGH 26 17 43 0 75 75 Cosmic_Gene G G A G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 338 2 21231385 21231385 143 AML diagnosis snv CCDC142 silent V181V NM_032779 20-PASZZE CCDC142|TTC31 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 5 0.234 SQHIGH 12 23 35 0 35 35 Cosmic_Gene G G A G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 84865|64427 2 74709422 74709422 41 AML diagnosis snv ARL5A nonsense R179* NM_012097 20-PASZZE ARL5A NONSENSE SNP Somatic 8 0.335 SQHIGH 6 5 11 0 34 34 T T A T T TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 26225 2 152659795 152659795 42 AML diagnosis snv GC missense R21Q NM_000583 20-PASZZE GC MISSENSE SNP dbsnp.132:rs117925738 Somatic -1 0.128 SQHIGH 14 49 63 0 36 36 Cosmic_Gene C C T C C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 2638 4 72635114 72635114 30 AML diagnosis snv FAT1 missense R3053C NM_005245 20-PASZZE FAT1 MISSENSE SNP Somatic -4 0.096 SQHIGH 7 35 42 0 24 24 Cosmic_Gene G G A G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 2195 4 187535417 187535417 15 AML diagnosis snv HLA-DRB5 silent Q63Q NM_002125 20-PASZZE HLA-DRB5 SYNONYMOUS SNP dbsnp.86:rs1059348,dbsnp.134:rs143442815 Somatic PFAM:PF00969:MHC_II_beta 11 0.463 SQHIGH 8 0 8 0 31 31 T C C T T TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 3127 6 32489863 32489863 78 AML diagnosis snv CNR1 missense A248T NM_016083 20-PASZZE CNR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 3 0.190 SQHIGH 31 49 80 0 51 51 Cosmic_Gene C C T C C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 1268 6 88854252 88854252 79 AML diagnosis snv MLLT4 nonsense R1625* NM_001040000 20-PASZZE MLLT4 NONSENSE SNP Somatic 2 0.173 SQHIGH 17 27 44 0 41 41 Cosmic_Gene C C T C C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 4301 6 168363179 168363179 57 AML diagnosis snv MYO1G silent G512G NM_033054 20-PASZZE MYO1G SYNONYMOUS SNP Somatic -4 0.096 SQHIGH 4 21 25 0 31 31 Cosmic_Gene G G T G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 64005 7 45009050 45009050 15 AML diagnosis snv TRRAP missense E3107K NM_003496 20-PASZZE TRRAP MISSENSE SNP Somatic PFAM:PF02259:FAT 8 0.335 SQHIGH 32 23 55 0 44 44 Cosmic_Gene G G A G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 8295 7 98586392 98586392 107 AML diagnosis snv PSD3 silent R411R NM_015310 20-PASZZE PSD3 SYNONYMOUS SNP Somatic 8 0.335 SQHIGH 8 16 24 1 30 31 Cosmic_Gene C C T C C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 23362 8 18729141 18729141 24 AML diagnosis snv GPR158 missense R1065H NM_020752 20-PASZZE GPR158 MISSENSE SNP Somatic 2 0.173 SQHIGH 26 31 57 1 42 43 Cosmic_Gene G G A G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 57512 10 25887749 25887749 66 AML diagnosis snv GRID1 missense G503R NM_017551 20-PASZZE GRID1 MISSENSE SNP Somatic 10 0.414 SQHIGH 30 31 61 1 69 70 Cosmic_Gene C C T C C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 2894 10 87487638 87487638 108 AML diagnosis snv GPR123 silent F301F NM_001083909 20-PASZZE GPR123 SYNONYMOUS SNP dbsnp.134:rs138862408 Somatic 14 0.655 SQHIGH 19 16 35 0 42 42 C C T C C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 84435 10 134942235 134942235 81 AML diagnosis snv OR51G1 missense V128I NM_001005237 20-PASZZE OR51G1 MISSENSE SNP dbsnp.132:rs111446872 Somatic PFAM:PF00001:7tm_1 13 0.581 SQHIGH 28 40 68 0 55 55 Cosmic_Gene C C T C C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 79324 11 4945188 4945188 86 AML diagnosis snv TRIM49B missense Q137R NM_001206626 20-PASZZE TRIM49B MISSENSE SNP Somatic -6 0.082 SQHIGH 12 50 62 3 62 65 A A G A A TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 283116 11 49053561 49053561 20 AML diagnosis snv ARHGEF7 missense P462L NM_003899 20-PASZZE ARHGEF7 MISSENSE SNP Somatic -10 0.059 SQHIGH 6 18 24 0 33 33 Cosmic_Gene C C T C C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 8874 13 111935616 111935616 24 AML diagnosis snv EFS missense E410K NM_005864 20-PASZZE EFS MISSENSE SNP Somatic PFAM:PF12026:DUF3513 16 0.787 SQHIGH 26 14 40 0 47 47 Cosmic_Gene C C T C C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 10278 14 23828108 23828108 116 AML diagnosis snv RYR3 silent L379L NM_001036 20-PASZZE RYR3 SYNONYMOUS SNP Somatic PFAM:PF02815:MIR 0 0.142 SQHIGH 23 23 46 0 49 49 Cosmic_Gene A A G A A TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 6263 15 33855202 33855202 89 AML diagnosis snv TP53 missense R248W NM_000546 20-PASZZE TP53 MISSENSE SNP dbsnp.133:rs121912651 Somatic 13 0.581 SQHIGH 14 25 39 0 54 54 COSMIC:mut:10656 Cosmic_Gene G G A G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 7157 17 7577539 7577539 60 AML diagnosis snv DNAH2 missense V3443M NM_020877 20-PASZZE DNAH2 MISSENSE SNP Somatic PFAM:PF12781:AAA_9 16 0.787 SQHIGH 25 20 45 0 66 66 Cosmic_Gene G G A G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 146754 17 7721354 7721354 122 AML diagnosis snv LAMA1 missense C1434G NM_005559 20-PASZZE LAMA1 MISSENSE SNP Somatic PFAM:PF00053:Laminin_EGF 16 0.787 SQHIGH 19 15 34 0 32 32 Cosmic_Gene A A C A A TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 284217 18 7002345 7002345 70 AML diagnosis snv CELSR1 missense R376C NM_014246 20-PASZZE CELSR1 MISSENSE SNP Somatic 15 0.723 SQHIGH 16 21 37 0 78 78 Cosmic_Gene G G A G G TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 9620 22 46931942 46931942 91 AML diagnosis snv TBX22 splice H211H NM_001109878 20-PASZZE TBX22 SYNONYMOUS SNP Somatic PFAM:PF00907:T-box 18 0.913 SQHIGH 22 0 22 0 28 28 Cosmic_Gene C T C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 50945 X 79281276 79281276 139 AML diagnosis mnv AKR1E2 missense N166_I167>NA NM_001040177 20-PASZZE AKR1E2 MISSENSE Sub Somatic PFAM:PF00248:Aldo_ket_red -9 0.308 SQHIGH 5 22 27 0 44 44 CATC CATC TGCT CATC CATC TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 83592 10 4879689 4879692 22 AML diagnosis complex SPOP frameshift F102fs NM_001007226 20-PASZZE SPOP FRAMESHIFT Sub Somatic -30 0.056 4 39 43 0 56 56 Cosmic_Gene GAA GAA GGAT GAA GAA TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 8405 17 47696642 47696644 15 AML relapse snv PINK1 silent D375D NM_032409 20-PATAST PINK1 SYNONYMOUS SNP Somatic 5 0.222 SQHIGH 13 43 56 0 47 47 Cosmic_Gene C C T C C TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 65018 1 20974999 20974999 38 AML relapse snv PAPPA2 silent S568S NM_020318 20-PATAST PAPPA2 SYNONYMOUS SNP Somatic 3 0.178 SQHIGH 14 41 55 0 48 48 Cosmic_Gene C C T C C TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 60676 1 176564444 176564444 42 AML relapse snv MAP10 missense D325G NM_019090 20-PATAST MAP10 MISSENSE SNP Somatic 4 0.198 SQHIGH 6 13 19 1 20 21 Cosmic_Gene A A G A A TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 54627 1 232941743 232941743 15 AML relapse snv CEP72 missense E390G NM_018140 20-PATAST CEP72 MISSENSE SNP Somatic -1 0.115 SQHIGH 8 25 33 0 37 37 Cosmic_Gene A A G A A TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 55722 5 637896 637896 28 AML relapse snv KLC4 missense R380W NM_201521 20-PATAST KLC4 MISSENSE SNP Somatic -5 0.076 SQHIGH 6 20 26 0 37 37 Cosmic_Gene C C T C C TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 89953 6 43038586 43038586 25 AML relapse snv GABBR2 missense A662T NM_005458 20-PATAST GABBR2 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 4 0.198 SQHIGH 30 52 82 2 77 79 Cosmic_Gene C C T C C TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 9568 9 101073397 101073397 79 AML relapse snv NEU3 silent G416G NM_006656 20-PATAST NEU3 SYNONYMOUS SNP Somatic 0 0.129 SQHIGH 9 37 46 1 46 47 Cosmic_Gene G G A G G TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 10825 11 74717399 74717399 22 AML relapse snv CNTN5 missense V659M NM_014361 20-PATAST CNTN5 MISSENSE SNP Somatic PFAM:PF00047:ig 10 0.409 SQHIGH 10 12 22 0 22 22 Cosmic_Gene G G A G G TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 53942 11 100095514 100095514 36 AML relapse snv TAS2R30 silent P136P NM_001097643 20-PATAST PRH1-PRR4|TAS2R30 INTRON|SYNONYMOUS SNP Somatic PFAM:PF03402:V1R 6 0.255 SQHIGH 18 48 66 0 57 57 A A C A A TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 100533464|259293 12 11286436 11286436 54 AML relapse snv IDH2 missense R140Q NM_002168 20-PATAST IDH2 MISSENSE SNP dbsnp.133:rs121913502 Somatic PFAM:PF00180:Iso_dh 6 0.255 SQHIGH 15 43 58 0 78 78 COSMIC:mut:41590 Cosmic_Gene C C T C C TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 3418 15 90631934 90631934 61 AML relapse snv KIAA1755 missense S285R NM_001029864 20-PATAST KIAA1755 MISSENSE SNP Somatic 6 0.255 SQHIGH 24 42 66 1 69 70 Cosmic_Gene G G T G G TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 85449 20 36869678 36869678 75 AML relapse snv FAM65C silent L537L NM_080829 20-PATAST FAM65C SYNONYMOUS SNP Somatic -8 0.058 SQHIGH 5 36 41 0 59 59 Cosmic_Gene G G A G G TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 140876 20 49218647 49218647 20 AML relapse snv TRO missense A347S NM_177556 20-PATAST TRO MISSENSE SNP Somatic 18 0.922 SQHIGH 18 9 27 0 25 25 Cosmic_Gene G T G TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 7216 X 54950004 54950004 70 AML diagnosis snv PINK1 silent D375D NM_032409 20-PATAST PINK1 SYNONYMOUS SNP Somatic 15 0.748 SQHIGH 22 23 45 0 47 47 Cosmic_Gene C C T C C TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 65018 1 20974999 20974999 84 AML diagnosis snv NRAS missense G13D NM_002524 20-PATAST NRAS MISSENSE SNP dbsnp.132:rs121434596 Somatic -26 0.010 5 40 45 0 28 28 COSMIC:mut:573 Cosmic_Gene C C T C C TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 4893 1 115258744 115258744 11 AML diagnosis snv PAPPA2 silent S568S NM_020318 20-PATAST PAPPA2 SYNONYMOUS SNP Somatic -1 0.124 SQHIGH 14 37 51 0 48 48 Cosmic_Gene C C T C C TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 60676 1 176564444 176564444 45 AML diagnosis snv CEP72 missense E390G NM_018140 20-PATAST CEP72 MISSENSE SNP Somatic 6 0.270 SQHIGH 20 30 50 0 37 37 Cosmic_Gene A A G A A TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 55722 5 637896 637896 57 AML diagnosis snv GABBR2 missense A662T NM_005458 20-PATAST GABBR2 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 8 0.340 SQHIGH 38 48 86 2 77 79 Cosmic_Gene C C T C C TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 9568 9 101073397 101073397 105 AML diagnosis snv C10orf71 missense R1236H NM_001135196 20-PATAST C10orf71 INTRON,MISSENSE SNP Somatic 2 0.171 SQHIGH 12 42 54 0 54 54 G G A G G TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 118461 10 50534297 50534297 39 AML diagnosis snv NEU3 silent G416G NM_006656 20-PATAST NEU3 SYNONYMOUS SNP Somatic 11 0.480 SQHIGH 23 26 49 1 46 47 Cosmic_Gene G G A G G TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 10825 11 74717399 74717399 70 AML diagnosis snv JPH4 missense S297G NM_032452 20-PATAST JPH4 MISSENSE SNP Somatic -9 0.060 SQHIGH 6 18 24 0 25 25 Cosmic_Gene T T C T T TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 84502 14 24045156 24045156 20 AML diagnosis snv IDH2 missense R140Q NM_002168 20-PATAST IDH2 MISSENSE SNP dbsnp.133:rs121913502 Somatic PFAM:PF00180:Iso_dh 6 0.270 SQHIGH 28 48 76 0 78 78 COSMIC:mut:41590 Cosmic_Gene C C T C C TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 3418 15 90631934 90631934 99 AML diagnosis snv TSHZ3 missense V953M NM_020856 20-PATAST TSHZ3 MISSENSE SNP Somatic PFAM:PF00046:Homeobox 5 0.235 SQHIGH 14 45 59 0 71 71 Cosmic_Gene C C T C C TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 57616 19 31767842 31767842 52 AML diagnosis snv SPATA2 missense S233L NM_006038 20-PATAST SPATA2 MISSENSE SNP Somatic 3 0.190 SQHIGH 11 13 24 1 30 31 Cosmic_Gene G G A G G TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 9825 20 48523021 48523021 37 AML relapse snv TIFAB silent R104R NM_001099221 20-PATDHA C5orf20|TIFAB TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF00498:FHA -7 0.054 SQHIGH 8 51 59 0 57 57 C C T C C TARGET-20-PATDHA-04A-01D TARGET-20-PATDHA-14A-01D 140947|497189 5 134785318 134785318 25 AML relapse snv IDH2 missense R140Q NM_002168 20-PATDHA IDH2 MISSENSE SNP dbsnp.133:rs121913502 Somatic PFAM:PF00180:Iso_dh -17 0.020 6 53 59 0 52 52 COSMIC:mut:41590 Cosmic_Gene C C T C C TARGET-20-PATDHA-04A-01D TARGET-20-PATDHA-14A-01D 3418 15 90631934 90631934 17 AML relapse snv TEX33 missense R81K NM_001163857 20-PATDHA C22orf33 UTR5,MISSENSE SNP Somatic -10 0.041 SQHIGH 4 6 10 0 12 12 C C T C C TARGET-20-PATDHA-04A-01D TARGET-20-PATDHA-14A-01D 339669 22 37398125 37398125 15 AML diagnosis snv CAPSL missense D54N NM_144647 20-PATDHA CAPSL MISSENSE SNP Somatic 7 0.229 SQHIGH 19 19 38 0 37 37 Cosmic_Gene C C T C C TARGET-20-PATDHA-09A-01D TARGET-20-PATDHA-14A-01D 133690 5 35910623 35910623 69 AML diagnosis snv TIFAB silent R104R NM_001099221 20-PATDHA C5orf20|TIFAB TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF00498:FHA 12 0.433 SQHIGH 23 28 51 0 57 57 C C T C C TARGET-20-PATDHA-09A-01D TARGET-20-PATDHA-14A-01D 140947|497189 5 134785318 134785318 90 AML diagnosis snv TRIM10 missense C383S NM_052828 20-PATDHA TRIM10 UTR3,MISSENSE SNP Somatic -10 0.042 SQHIGH 6 26 32 1 35 36 A A T A A TARGET-20-PATDHA-09A-01D TARGET-20-PATDHA-14A-01D 10107 6 30121506 30121506 14 AML diagnosis snv GPR126 missense R1135W NM_020455 20-PATDHA GPR126 MISSENSE SNP Somatic -2 0.086 SQHIGH 8 16 24 1 23 24 Cosmic_Gene C C T C C TARGET-20-PATDHA-09A-01D TARGET-20-PATDHA-14A-01D 57211 6 142758654 142758654 19 AML diagnosis snv KLC2 missense V159I NM_022822 20-PATDHA KLC2 MISSENSE SNP Somatic PFAM:PF09311:Rab5-bind 4 0.157 SQHIGH 29 33 62 0 53 53 G G A G G TARGET-20-PATDHA-09A-01D TARGET-20-PATDHA-14A-01D 64837 11 66029609 66029609 95 AML diagnosis snv PPFIA2 missense A161S NM_003625 20-PATDHA PPFIA2 MISSENSE,UTR SNP Somatic 6 0.204 SQHIGH 8 22 30 0 22 22 Cosmic_Gene C C A C C TARGET-20-PATDHA-09A-01D TARGET-20-PATDHA-14A-01D 8499 12 81839424 81839424 21 AML diagnosis snv IDH2 missense R140Q NM_002168 20-PATDHA IDH2 MISSENSE SNP dbsnp.133:rs121913502 Somatic PFAM:PF00180:Iso_dh 14 0.575 SQHIGH 18 26 44 0 52 52 COSMIC:mut:41590 Cosmic_Gene C C T C C TARGET-20-PATDHA-09A-01D TARGET-20-PATDHA-14A-01D 3418 15 90631934 90631934 71 AML diagnosis snv C22orf42 missense D212N NM_001010859 20-PATDHA C22orf42 MISSENSE SNP Somatic 11 0.378 SQHIGH 20 23 43 0 46 46 Cosmic_Gene C C T C C TARGET-20-PATDHA-09A-01D TARGET-20-PATDHA-14A-01D 150297 22 32546326 32546326 76 AML diagnosis snv TEX33 missense R81K NM_001163857 20-PATDHA C22orf33 UTR5,MISSENSE SNP Somatic -9 0.046 SQHIGH 8 6 14 0 12 12 C C T C C TARGET-20-PATDHA-09A-01D TARGET-20-PATDHA-14A-01D 339669 22 37398125 37398125 27 AML relapse snv MSH6 missense K247N NM_000179 20-PATDNN MSH6 MISSENSE SNP Somatic 3 0.178 SQHIGH 19 46 65 0 52 52 Cosmic_Gene A A C A A TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 2956 2 48025863 48025863 54 AML relapse snv TENM4 silent P867P NM_001098816 20-PATDNN TENM4 SYNONYMOUS SNP Somatic 8 0.317 SQHIGH 14 32 46 0 45 45 Cosmic_Gene C C A C C TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 26011 11 78468005 78468005 46 AML relapse snv CSRNP2 missense S7P NM_030809 20-PATDNN CSRNP2 MISSENSE SNP Somatic 9 0.356 SQHIGH 11 33 44 1 29 30 A A G A A TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 81566 12 51470326 51470326 19 AML relapse snv PTPRQ silent A353A NM_001145026 20-PATDNN PTPRQ SYNONYMOUS SNP Somatic -8 0.061 SQHIGH 4 7 11 0 12 12 A A C A A TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 374462 12 80888746 80888746 14 AML relapse snv PTPN11 missense E76K NM_002834 20-PATDNN PTPN11 MISSENSE SNP dbsnp.133:rs121918464 Somatic 4 0.198 SQHIGH 13 24 37 0 30 30 COSMIC:mut:13000 Cosmic_Gene G G A G G TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 5781 12 112888210 112888210 39 AML relapse snv APEX1 silent Y257Y NM_001641 20-PATDNN APEX1|OSGEP SYNONYMOUS|TSS-UPSTREAM SNP Somatic 6 0.252 SQHIGH 19 45 64 0 71 71 Cosmic_Gene C C T C C TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 328|55644 14 20925481 20925481 69 AML relapse snv LRRC36 nonsense S365* NM_018296 20-PATDNN LRRC36 NONSENSE SNP Somatic 8 0.317 SQHIGH 14 35 49 0 44 44 C C A C C TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 55282 16 67401259 67401259 43 AML relapse snv SLC43A2 missense T162I NM_152346 20-PATDNN SLC43A2 MISSENSE SNP Somatic 10 0.402 SQHIGH 24 42 66 0 59 59 G G A G G TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 124935 17 1516505 1516505 77 AML relapse snv TGM6 missense R252C NM_198994 20-PATDNN TGM6 MISSENSE SNP Somatic 14 0.648 SQHIGH 11 16 27 1 36 37 Cosmic_Gene C C T C C TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 343641 20 2380288 2380288 38 AML diagnosis snv ZBTB17 missense L732P NM_003443 20-PATDNN ZBTB17 MISSENSE SNP Somatic -9 0.052 SQHIGH 3 6 9 0 15 15 A A G A A TARGET-20-PATDNN-09A-01D TARGET-20-PATDNN-10A-01D 7709 1 16268681 16268681 14 AML diagnosis snv TENM4 silent P867P NM_001098816 20-PATDNN TENM4 SYNONYMOUS SNP Somatic 11 0.435 SQHIGH 19 21 40 0 45 45 Cosmic_Gene C C A C C TARGET-20-PATDNN-09A-01D TARGET-20-PATDNN-10A-01D 26011 11 78468005 78468005 75 AML diagnosis snv PTPN11 missense E76K NM_002834 20-PATDNN PTPN11 MISSENSE SNP dbsnp.133:rs121918464 Somatic 4 0.190 SQHIGH 21 20 41 0 30 30 COSMIC:mut:13000 Cosmic_Gene G G A G G TARGET-20-PATDNN-09A-01D TARGET-20-PATDNN-10A-01D 5781 12 112888210 112888210 63 AML diagnosis snv APEX1 silent Y257Y NM_001641 20-PATDNN APEX1|OSGEP SYNONYMOUS|TSS-UPSTREAM SNP Somatic -1 0.111 SQHIGH 15 45 60 0 71 71 Cosmic_Gene C C T C C TARGET-20-PATDNN-09A-01D TARGET-20-PATDNN-10A-01D 328|55644 14 20925481 20925481 56 AML diagnosis snv MTSS1L missense T539S NM_138383 20-PATDNN MTSS1L MISSENSE SNP Somatic -5 0.074 SQHIGH 3 9 12 0 23 23 Cosmic_Gene G G C G G TARGET-20-PATDNN-09A-01D TARGET-20-PATDNN-10A-01D 92154 16 70698208 70698208 15 AML diagnosis snv KIAA1522 missense S1089P NM_020888 20-PATELT KIAA1522 MISSENSE SNP Somatic -32 0.004 6 30 36 1 40 41 T T C T T TARGET-20-PATELT-03A-02D TARGET-20-PATELT-14A-01D 57648 1 33238468 33238468 14 AML diagnosis snv KIAA1614 missense R463H NM_020950 20-PATELT KIAA1614 MISSENSE SNP Somatic -1 0.101 SQHIGH 8 32 40 1 48 49 Cosmic_Gene G G A G G TARGET-20-PATELT-03A-02D TARGET-20-PATELT-14A-01D 57710 1 180904433 180904433 22 AML diagnosis snv CACNA1E missense S1029G NM_000721 20-PATELT CACNA1E MISSENSE SNP Somatic 0 0.111 SQHIGH 4 11 15 0 21 21 Cosmic_Gene A A G A A TARGET-20-PATELT-03A-02D TARGET-20-PATELT-14A-01D 777 1 181702709 181702709 16 AML relapse snv MAN1A1 missense L36R NM_005907 20-PATIAK MAN1A1 MISSENSE SNP Somatic 1 0.127 SQHIGH 4 8 12 1 22 23 Cosmic_Gene A A C A A TARGET-20-PATIAK-04A-02D TARGET-20-PATIAK-14A-01D 4121 6 119670124 119670124 14 AML relapse snv TAS2R60 missense A289P NM_177437 20-PATIAK LOC285965|TAS2R60 INTRON|MISSENSE SNP Somatic PFAM:PF03402:V1R 0 0.117 SQHIGH 4 33 37 0 57 57 Cosmic_Gene G G C G G TARGET-20-PATIAK-04A-02D TARGET-20-PATIAK-14A-01D 285965|338398 7 143141410 143141410 17 AML relapse snv CSMD1 silent P428P NM_033225 20-PATIAK CSMD1 SYNONYMOUS SNP Somatic 4 0.172 SQHIGH 23 31 54 0 40 40 Cosmic_Gene C C T C C TARGET-20-PATIAK-04A-02D TARGET-20-PATIAK-14A-01D 64478 8 3432527 3432527 67 AML relapse snv ABCA1 silent S1169S NM_005502 20-PATIAK ABCA1 SYNONYMOUS SNP Somatic 11 0.403 SQHIGH 25 26 51 0 56 56 Cosmic_Gene G G A G G TARGET-20-PATIAK-04A-02D TARGET-20-PATIAK-14A-01D 19 9 107579641 107579641 98 AML relapse snv IFT140 missense R1403Q NM_014714 20-PATIAK IFT140 MISSENSE SNP dbsnp.132:rs113216558 Somatic 2 0.141 SQHIGH 7 21 28 0 31 31 Cosmic_Gene C C T C C TARGET-20-PATIAK-04A-02D TARGET-20-PATIAK-14A-01D 9742 16 1561126 1561126 25 AML relapse snv IL21R silent S358S NM_021798 20-PATIAK LOC283888|IL21R UTR|SYNONYMOUS SNP Somatic 13 0.524 SQHIGH 18 21 39 1 39 40 Cosmic_Gene G G A G G TARGET-20-PATIAK-04A-02D TARGET-20-PATIAK-14A-01D 283888|50615 16 27460061 27460061 55 AML diagnosis snv CSMD1 silent P428P NM_033225 20-PATIAK CSMD1 SYNONYMOUS SNP Somatic -6 0.064 SQHIGH 12 40 52 0 40 40 Cosmic_Gene C C T C C TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 64478 8 3432527 3432527 32 AML diagnosis snv KCNB2 missense S608I NM_004770 20-PATIAK KCNB2 MISSENSE SNP Somatic PFAM:PF03521:Kv2channel 3 0.153 SQHIGH 7 41 48 1 48 49 Cosmic_Gene G G T G G TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 9312 8 73849413 73849413 16 AML diagnosis snv ABCA1 silent S1169S NM_005502 20-PATIAK ABCA1 SYNONYMOUS SNP Somatic 2 0.139 SQHIGH 11 44 55 0 56 56 Cosmic_Gene G G A G G TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 19 9 107579641 107579641 36 AML diagnosis snv IL21R silent S358S NM_021798 20-PATIAK LOC283888|IL21R UTR|SYNONYMOUS SNP Somatic 10 0.349 SQHIGH 25 25 50 1 39 40 Cosmic_Gene G G A G G TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 283888|50615 16 27460061 27460061 67 AML diagnosis snv NSF missense R607T NM_006178 20-PATIAK NSF MISSENSE,UTR SNP Somatic -3 0.083 SQHIGH 5 30 35 0 26 26 Cosmic_Gene G G C G G TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 4905 17 44803973 44803973 13 AML diagnosis snv USHBP1 missense Q672E NM_031941 20-PATIAK NR2F6|USHBP1 TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.058 SQHIGH 5 17 22 0 21 21 Cosmic_Gene G G C G G TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 2063|83878 19 17361132 17361132 16 AML diagnosis snv SLC1A5 splice_region S203_E2splice_region NM_005628 20-PATIAK SLC1A5 INTRON SNP Somatic -10 0.045 SQHIGH 5 19 24 0 30 30 G G C G G TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 6510 19 47287764 47287764 19 AML diagnosis snv SAP130 silent P435P NM_001145928 20-PATJHJ SAP130 SYNONYMOUS SNP Somatic -5 0.069 SQHIGH 5 24 29 1 44 45 Cosmic_Gene G G T G G TARGET-20-PATJHJ-09A-01D TARGET-20-PATJHJ-14A-01D 79595 2 128754052 128754052 15 AML diagnosis snv EEF1D missense S437R NM_032378 20-PATJHJ NAPRT1|EEF1D TSS-UPSTREAM|MISSENSE SNP Somatic -4 0.077 SQHIGH 4 16 20 0 27 27 Cosmic_Gene G G C G G TARGET-20-PATJHJ-09A-01D TARGET-20-PATJHJ-14A-01D 93100|1936 8 144663475 144663475 16 AML diagnosis snv EEF1D silent S436S NM_032378 20-PATJHJ NAPRT1|EEF1D TSS-UPSTREAM|SYNONYMOUS SNP Somatic -7 0.059 SQHIGH 4 15 19 0 27 27 Cosmic_Gene G G C G G TARGET-20-PATJHJ-09A-01D TARGET-20-PATJHJ-14A-01D 93100|1936 8 144663478 144663478 16 AML relapse snv OR4A16 missense P236S NM_001005274 20-PATJHJ OR4A16 MISSENSE SNP dbsnp.131:rs78913302 Somatic PFAM:PF00001:7tm_1 2 0.140 SQHIGH 10 48 58 0 52 52 Cosmic_Gene C C T C C TARGET-20-PATJHJ-40A-02D TARGET-20-PATJHJ-14A-01D 81327 11 55111382 55111382 30 AML relapse snv KRT10 silent S494S NM_000421 20-PATJHJ KRT10|TMEM99 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -9 0.049 SQHIGH 4 10 14 0 17 17 Cosmic_Gene A A G A A TARGET-20-PATJHJ-40A-02D TARGET-20-PATJHJ-14A-01D 3858|147184 17 38975305 38975305 15 AML relapse snv KRT10 silent G493G NM_000421 20-PATJHJ KRT10|TMEM99 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -4 0.076 SQHIGH 4 10 14 0 16 16 Cosmic_Gene G G T G G TARGET-20-PATJHJ-40A-02D TARGET-20-PATJHJ-14A-01D 3858|147184 17 38975308 38975308 14 AML diagnosis snv EDRF1 missense N97K NM_015608 20-PATKJB C10orf137|FLJ37035 MISSENSE|TSS-UPSTREAM SNP Somatic 2 0.145 SQHIGH 7 19 26 2 40 42 Cosmic_Gene C C A C C TARGET-20-PATKJB-09A-04D TARGET-20-PATKJB-14A-02D 26098|399821 10 127409955 127409955 19 AML diagnosis ins GSE1 frameshift T120fs NM_014615 20-PADZCG GSE1 FRAMESHIFT Ins Somatic PFAM:PF12540:DUF3736 -9 0.225 SQHIGH 13 12 25 2 23 25 COSMIC:mut:33384 Cosmic_Gene C TARGET-20-PADZCG-09A-01D TARGET-20-PADZCG-14A-01D 23199 16 85682289 85682289 31 AML diagnosis ins ASXL1 frameshift P698fs NM_015338 20-PAEAKL ASXL1 FRAMESHIFT Ins Somatic -1 0.664 SQHIGH 36 48 84 0 55 55 Cosmic_Gene C TARGET-20-PAEAKL-09A-01D TARGET-20-PAEAKL-10A-01D 171023 20 31022606 31022606 Somatic Illumina 96 47659 39693 87461 87781 6 87894 AML relapse ins JMJD1C frameshift A829fs NM_032776 20-PAEDKB JMJD1C FRAMESHIFT Ins Somatic -3 0.441 SQHIGH 8 20 28 1 27 28 Cosmic_Gene T TARGET-20-PAEDKB-04A-01D TARGET-20-PAEDKB-10A-01D 221037 10 64973439 64973439 19 AML diagnosis ins EGLN1 frameshift G219fs NM_022051 20-PAEDKB EGLN1 FRAMESHIFT Ins Somatic -6 0.315 SQHIGH 5 26 31 0 36 36 C TARGET-20-PAEDKB-09A-01D TARGET-20-PAEDKB-10A-01D 54583 1 231556978 231556978 18 AML relapse ins XRN2 splice_region Q555_E17splice_region NM_012255 20-PAEERJ XRN2 DONOR Ins Somatic -6 0.351 SQHIGH 5 23 28 0 31 31 Cosmic_Gene A TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 22803 20 21327192 21327192 17 AML relapse ins SST frameshift A77fs NM_001048 20-PAEFGR SST FRAMESHIFT Ins Somatic -9 0.196 SQHIGH 3 5 8 0 14 14 Cosmic_Gene A TARGET-20-PAEFGR-04A-01D TARGET-20-PAEFGR-14A-01D 6750 3 187386974 187386974 14 AML diagnosis del EXD1 frameshift L63fs NM_152596 20-PAEFGR EXD1 FRAMESHIFT Del Somatic -1 0.479 SQHIGH 5 34 39 0 28 28 Cosmic_Gene C C C C TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 161829 15 41508891 41508891 12 AML relapse ins NPM1 frameshift L287fs NM_002520 20-PAEFGT NPM1 FRAMESHIFT Ins Somatic 1 0.663 SQHIGH 18 15 33 0 32 32 COSMIC:mut:17571 Cosmic_Gene TGCA TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 4869 5 170837545 170837545 67 AML relapse del POLR2J4 EXON E7_exon NM_015983 20-PAEFGT UBE2D4|POLR2J4 UTR3|UTR Del Somatic -2 0.389 SQHIGH 6 44 50 0 32 32 G G G G TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 51619|84820 7 43992766 43992766 13 AML diagnosis ins SCAP frameshift E145fs NM_012235 20-PAEFGT SCAP FRAMESHIFT Ins Somatic 0 0.609 SQHIGH 4 23 27 0 42 42 Cosmic_Gene G TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 22937 3 47469132 47469132 17 AML diagnosis del IQCF3 frameshift V47fs NM_001085479 20-PAEFGT IQCF3 FRAMESHIFT Del Somatic -4 0.341 SQHIGH 7 20 27 0 21 21 Cosmic_Gene T T T T TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 401067 3 51864492 51864492 19 AML diagnosis ins NPM1 frameshift L287fs NM_002520 20-PAEFGT NPM1 FRAMESHIFT Ins Somatic 1 0.668 SQHIGH 20 12 32 0 31 32 COSMIC:mut:17571 Cosmic_Gene TGCA TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 4869 5 170837545 170837545 78 AML diagnosis ins COL6A3 frameshift G275fs NM_004369 20-PAKERZ COL6A3 INTRON,FRAMESHIFT Ins Somatic PFAM:PF04811:Sec23_trunk -7 0.277 SQHIGH 4 24 28 0 31 31 Cosmic_Gene A TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 1293 2 238296713 238296713 13 AML diagnosis ins ANKRD12 frameshift N2054fs NM_015208 20-PAKERZ ANKRD12 NONSENSE Ins Somatic -9 0.190 SQHIGH 4 20 24 0 26 26 Cosmic_Gene T TARGET-20-PAKERZ-09A-01D TARGET-20-PAKERZ-14A-01D 23253 18 9281097 9281097 13 AML diagnosis ins SCARNA12 EXON E6_exon NM_001144831 20-PAKIYW PHB2|EMG1|SCARNA12 INTRON|TSS-UPSTREAM|UTR Ins Somatic -6 0.325 SQHIGH 7 19 26 0 15 15 Cosmic_Gene G TARGET-20-PAKIYW-09A-01D TARGET-20-PAKIYW-14A-01D 11331|10436|677777 12 7076557 7076557 15 AML diagnosis ins SECISBP2 frameshift R789fs NM_024077 20-PAKLPD SECISBP2 FRAMESHIFT Ins Somatic -8 0.235 SQHIGH 6 21 27 1 32 33 Cosmic_Gene CA TARGET-20-PAKLPD-09A-03D TARGET-20-PAKLPD-14A-02D 79048 9 91973012 91973012 16 AML relapse ins NPM1 frameshift L287fs NM_002520 20-PAKRZG NPM1 FRAMESHIFT Ins Somatic -7 0.307 SQHIGH 13 19 32 0 22 22 Cosmic_Gene TGCT TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 4869 5 170837545 170837545 35 AML relapse ins RRP12 frameshift F113fs NM_015179 20-PAKRZG RRP12 FRAMESHIFT Ins Somatic 0 0.690 SQHIGH 4 30 34 0 54 54 Cosmic_Gene T TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 23223 10 99160092 99160092 17 AML diagnosis ins NPM1 frameshift L287fs NM_002520 20-PAKSMZ NPM1 FRAMESHIFT Ins Somatic 3 0.816 SQHIGH 18 12 33 0 38 38 COSMIC:mut:17559 Cosmic_Gene TCTG TARGET-20-PAKSMZ-03A-01D TARGET-20-PAKSMZ-10A-01D 4869 5 170837543 170837543 82 AML relapse del EHBP1L1 splice_region W35_E1splice_region NM_001099409 20-PAKTCX EHBP1L1 DONOR Del Somatic -10 0.225 SQHIGH 5 39 44 0 34 34 Cosmic_Gene T T T T TARGET-20-PAKTCX-04A-01D TARGET-20-PAKTCX-14A-01D 254102 11 65343883 65343883 13 AML diagnosis del SLC13A1 frameshift L87_L88fs NM_022444 20-PALGKX SLC13A1 NONSENSE Del Somatic PFAM:PF00939:Na_sulph_symp -3 0.353 SQHIGH 3 18 21 0 44 44 Cosmic_Gene CAGT CAGT CAGT CAGT TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 6561 7 122811923 122811926 15 AML diagnosis del LOC102724719 EXON E1_exon NM_001098512 20-PALGKX PRKG1 INTRON Del Somatic -3 0.353 SQHIGH 14 18 32 0 30 30 Cosmic_Gene T T T T TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 5592 10 52822380 52822380 48 AML diagnosis del SEMA6C frameshift L59fs NM_030913 20-PAMVKZ SEMA6C FRAMESHIFT Del Somatic 3 0.763 SQHIGH 31 26 57 0 87 87 Cosmic_Gene G G G G TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 10500 1 151112510 151112510 154 AML diagnosis del ABCA10 frameshift A7fs NM_080282 20-PAMVKZ ABCA10 FRAMESHIFT Del Somatic 2 0.666 SQHIGH 28 23 51 0 36 36 Cosmic_Gene C C C C TARGET-20-PAMVKZ-09A-03D TARGET-20-PAMVKZ-14A-01D 10349 17 67221481 67221481 84 AML relapse ins USP9X frameshift I2120fs NM_001039590 20-PAMYAS USP9X NONSENSE Ins Somatic 2 0.850 SQHIGH 11 3 14 0 26 26 Cosmic_Gene GGCCT TARGET-20-PAMYAS-04A-01D TARGET-20-PAMYAS-14A-02D 8239 X 41077773 41077773 68 AML diagnosis ins EFHC1 frameshift P405fs NM_018100 20-PAMYAS EFHC1 FRAMESHIFT,UTR Ins Somatic -9 0.194 SQHIGH 6 22 28 0 31 31 Cosmic_Gene A TARGET-20-PAMYAS-09A-02D TARGET-20-PAMYAS-14A-02D 114327 6 52334207 52334207 21 AML diagnosis ins ZNF608 frameshift N728fs NM_020747 20-PAMYJX ZNF608 FRAMESHIFT Ins Somatic -4 0.397 SQHIGH 9 54 63 1 57 58 Cosmic_Gene T TARGET-20-PAMYJX-09A-02D TARGET-20-PAMYJX-14A-01D 57507 5 123983893 123983893 19 AML diagnosis del MYO10 frameshift S175fs NM_012334 20-PANAEV MYO10 FRAMESHIFT Del Somatic 0 0.475 SQHIGH 8 66 74 0 48 48 Cosmic_Gene T T T T TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 4651 5 16783521 16783521 18 AML diagnosis ins NPM1 frameshift L287fs NM_002520 20-PANAEV NPM1 FRAMESHIFT Ins Somatic -1 0.584 SQHIGH 20 11 31 0 23 23 COSMIC:mut:17571 Cosmic_Gene TGCA TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 4869 5 170837545 170837545 66 AML diagnosis ins B3GAT2 splice_region G246_E2splice_region NM_080742 20-PANAEV B3GAT2 INTRON Ins Somatic -9 0.235 SQHIGH 6 20 26 0 23 23 Cosmic_Gene C TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 135152 6 71603822 71603822 18 AML diagnosis del PACRG frameshift K16fs NM_152410 20-PANAEV PACRG|PARK2 FRAMESHIFT|TSS-UPSTREAM Del Somatic -9 0.234 SQHIGH 4 26 30 0 38 38 Cosmic_Gene G G G G TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 135138|5071 6 163149315 163149315 15 AML diagnosis del CTCF splice_region P667_E11splice_region NM_006565 20-PANAEV CTCF DONOR Del Somatic -4 0.312 SQHIGH 7 13 20 0 16 16 Cosmic_Gene A A A A TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 10664 16 67670757 67670757 20 AML diagnosis ins ALMS1-IT1 EXON E9_exon NM_015120 20-PANBZH ALMS1 INTRON Ins Somatic -5 0.415 SQHIGH 6 22 28 0 24 24 Cosmic_Gene A TARGET-20-PANBZH-09A-03D TARGET-20-PANBZH-14A-02D 7840 2 73685185 73685185 17 AML diagnosis del VRTN frameshift L332fs NM_018228 20-PANBZH VRTN FRAMESHIFT Del Somatic -6 0.274 SQHIGH 6 19 25 0 20 20 Cosmic_Gene T T T T TARGET-20-PANBZH-09A-03D TARGET-20-PANBZH-14A-02D 55237 14 74824481 74824481 17 AML diagnosis ins DEGS2 proteinIns L273>LGRTNL NM_206918 20-PANBZH DEGS2 INSERT Ins Somatic -4 0.455 SQHIGH 13 23 36 0 28 28 CAGGTTGGTTCGCCC TARGET-20-PANBZH-09A-03D TARGET-20-PANBZH-14A-02D 123099 14 100615310 100615310 38 AML relapse del UBL7 frameshift A254fs NM_032907 20-PANCSC UBL7 FRAMESHIFT Del Somatic -2 0.427 SQHIGH 5 16 21 0 38 38 Cosmic_Gene G G G G TARGET-20-PANCSC-04A-01D TARGET-20-PANCSC-14A-01D 84993 15 74741647 74741647 24 AML diagnosis del MYO9A proteinDel R1275_R1276>R NM_006901 20-PANCSC MYO9A DELETE Del Somatic 1 0.609 SQHIGH 20 26 46 1 49 50 Cosmic_Gene CTC CTC CTC CTC TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 4649 15 72191017 72191019 64 AML diagnosis del PPP1R32 frameshift D23fs NM_145017 20-PANDER PPP1R32 NONSENSE Del Somatic -2 0.399 SQHIGH 6 51 58 0 48 48 Cosmic_Gene C C C C TARGET-20-PANDER-09A-02D TARGET-20-PANDER-14A-01D 220004 11 61249350 61249350 16 AML diagnosis ins AACS frameshift N100fs NM_023928 20-PANFMG AACS FRAMESHIFT Ins Somatic PFAM:PF11930:DUF3448 -10 0.214 SQHIGH 6 47 53 0 50 50 Cosmic_Gene AG TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 65985 12 125561097 125561097 18 AML diagnosis del PHF6 frameshift E27fs NM_001015877 20-PANFMG PHF6 FRAMESHIFT Del Somatic -6 0.277 SQHIGH 8 1 9 0 11 11 Cosmic_Gene A A TARGET-20-PANFMG-09A-03D TARGET-20-PANFMG-14A-01D 84295 X 133511727 133511727 41 AML relapse ins PPP1CB splice_region G62_E3splice_region NM_002709 20-PANGDN PPP1CB ACCEPTOR Ins Somatic -3 0.502 SQHIGH 6 34 42 1 60 61 Cosmic_Gene T TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 5500 2 29001667 29001667 18 AML relapse del B3GNT5 frameshift R144_L146fs NM_032047 20-PANGDN MCF2L2|B3GNT5 INTRON|FRAMESHIFT Del Somatic PFAM:PF01762:Galactosyl_T 5 0.977 SQHIGH 18 46 64 0 85 85 Cosmic_Gene AAAAC AAAAC AAAAC AAAAC TARGET-20-PANGDN-04A-02D TARGET-20-PANGDN-14A-02D 23101|84002 3 182988018 182988022 73 AML diagnosis ins MLLT1 proteinIns R118>RHLR NM_005934 20-PANGJY MLLT1 INSERT Ins Somatic -6 0.323 SQHIGH 13 11 24 0 29 29 Cosmic_Gene GCGCAGGTG TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 4298 19 6230646 6230646 55 AML diagnosis ins FSIP2 frameshift K5439fs NM_173651 20-PANINI FSIP2 FRAMESHIFT Ins Somatic -5 0.387 SQHIGH 8 41 51 1 40 42 A TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 401024 2 186670080 186670080 15 AML diagnosis ins CEBPA proteinIns Q312>QQ NM_004364 20-PANINI LOC80054|CEBPA TSS-UPSTREAM|INSERT Ins Somatic PFAM:PF00170:bZIP_1 -8 0.256 SQHIGH 6 12 18 0 13 13 COSMIC:mut:18466,COSMIC:mut:20920,COSMIC:mut:36271 Cosmic_Gene CTG TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 80054|1050 19 33792384 33792384 16 AML diagnosis del SNED1 frameshift S231fs NM_001080437 20-PANJGR SNED1 FRAMESHIFT Del Somatic PFAM:PF06119:NIDO -1 0.380 SQHIGH 5 13 18 0 29 29 Cosmic_Gene G G G G TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 25992 2 241974035 241974035 23 AML diagnosis ins IKZF1 frameshift L192fs NM_006060 20-PANJGR IKZF1 INTRON,FRAMESHIFT,TSS-UPSTREAM Ins Somatic -6 0.321 SQHIGH 12 28 40 0 49 49 Cosmic_Gene GG TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 10320 7 50450391 50450391 46 AML diagnosis ins DMXL2 frameshift K302fs NM_015263 20-PANJGR DMXL2 FRAMESHIFT Ins Somatic -8 0.228 SQHIGH 7 15 22 2 26 28 Cosmic_Gene C TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 23312 15 51837805 51837805 15 AML diagnosis ins KDR frameshift F752fs NM_002253 20-PANKFZ KDR FRAMESHIFT Ins Somatic -4 0.388 SQHIGH 5 55 60 0 47 47 Cosmic_Gene A TARGET-20-PANKFZ-09A-02D TARGET-20-PANKFZ-14A-02D 3791 4 55968074 55968074 13 AML diagnosis del DNAJC5B frameshift C136fs NM_033105 20-PANKFZ DNAJC5B FRAMESHIFT Del Somatic -6 0.288 SQHIGH 3 14 17 0 31 31 C C C C TARGET-20-PANKFZ-09A-02D TARGET-20-PANKFZ-14A-02D 85479 8 66992686 66992686 14 AML diagnosis ins SYCE1 frameshift K213fs NM_130784 20-PANKFZ SYCE1 FRAMESHIFT Ins Somatic 0 0.598 SQHIGH 5 17 22 0 34 34 Cosmic_Gene T TARGET-20-PANKFZ-09A-02D TARGET-20-PANKFZ-14A-02D 93426 10 135369183 135369183 22 AML diagnosis ins FGF20 frameshift Y70fs NM_019851 20-PANKNB FGF20 FRAMESHIFT Ins Somatic -5 0.383 SQHIGH 4 29 33 0 41 41 Cosmic_Gene G TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 26281 8 16859331 16859331 14 AML diagnosis ins JMJD1C frameshift V1380fs NM_032776 20-PANKNB JMJD1C FRAMESHIFT Ins Somatic -7 0.306 SQHIGH 3 20 23 0 39 39 Cosmic_Gene G TARGET-20-PANKNB-09A-02D TARGET-20-PANKNB-14A-01D 221037 10 64967289 64967289 13 AML relapse ins PSMC3IP frameshift A112fs NM_013290 20-PANLIR PSMC3IP FRAMESHIFT Ins Somatic PFAM:PF07106:TBPIP -2 0.517 SQHIGH 8 25 33 1 27 28 Cosmic_Gene T TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 29893 17 40726119 40726119 16 AML diagnosis ins CEBPA proteinIns K313>TQQK NM_004364 20-PANLIR LOC80054|CEBPA TSS-UPSTREAM|INSERT Ins Somatic PFAM:PF00170:bZIP_1 0 0.628 SQHIGH 11 12 23 0 23 23 Cosmic_Gene TCTGCTGCG TARGET-20-PANLIR-09A-02D TARGET-20-PANLIR-14A-02D 80054|1050 19 33792383 33792383 40 AML relapse del ROR1 proteinDel L421_F422>L NM_005012 20-PANLIZ ROR1 DELETE Del Somatic -1 0.487 SQHIGH 15 20 35 0 56 56 Cosmic_Gene TCT TCT TCT TCT TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 4919 1 64624751 64624753 72 AML relapse del DHX15 proteinDel T743_K744>K NM_001358 20-PANLIZ DHX15 DELETE Del Somatic PFAM:PF07717:OB_NTP_bind -2 0.410 SQHIGH 22 35 57 0 62 62 Cosmic_Gene TTG TTG TTG TTG TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 1665 4 24531264 24531266 82 AML relapse ins EZH2 proteinIns V737>VNPL NM_001203247 20-PANLIZ EZH2 INSERT Ins Somatic 4 0.932 SQHIGH 23 29 52 0 43 43 Cosmic_Gene GAGGGGATT TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 2146 7 148504767 148504767 73 AML relapse ins PPFIBP1 frameshift G460fs NM_003622 20-PANLIZ PPFIBP1 FRAMESHIFT Ins Somatic -10 0.171 SQHIGH 5 23 28 0 29 29 Cosmic_Gene GGGT TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 8496 12 27826758 27826758 16 AML relapse ins ACACA frameshift S173fs NM_198834 20-PANLIZ ACACA FRAMESHIFT Ins Somatic PFAM:PF00289:CPSase_L_chain -9 0.209 SQHIGH 5 34 39 0 31 31 Cosmic_Gene A TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 31 17 35640258 35640258 13 AML relapse ins SLC1A5 frameshift P343fs NM_005628 20-PANLIZ SLC1A5 FRAMESHIFT Ins Somatic PFAM:PF00375:SDF -5 0.386 SQHIGH 8 19 27 2 30 32 G TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 6510 19 47281961 47281961 17 AML diagnosis ins GATA2 proteinIns N363>RN NM_001145661 20-PANLJN GATA2 INSERT Ins Somatic -2 0.528 SQHIGH 12 15 27 0 35 35 Cosmic_Gene TCC TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 2624 3 128200717 128200717 51 AML diagnosis ins NPM1 frameshift W288fs NM_002520 20-PANLJN NPM1 FRAMESHIFT Ins Somatic -3 0.472 SQHIGH 19 14 33 0 27 27 Cosmic_Gene GCCG TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 4869 5 170837546 170837546 64 AML diagnosis ins ABCA1 splice_region R1531_E34splice_region NM_005502 20-PANLJN ABCA1 ACCEPTOR Ins Somatic -3 0.472 SQHIGH 17 26 43 0 52 52 Cosmic_Gene AGCGGACC TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 19 9 107564449 107564449 68 AML diagnosis ins SIN3B frameshift F775fs NM_015260 20-PANLJN SIN3B FRAMESHIFT Ins Somatic -8 0.250 SQHIGH 8 44 66 0 48 56 Cosmic_Gene T TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 23309 19 16980690 16980690 24 AML diagnosis ins ACTG1P4 EXON E2_exon NM_020978 20-PANLKB LOC648740|AMY2B UTR|INTRON Ins Somatic -8 0.263 SQHIGH 8 26 34 0 17 17 T TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 648740|280 1 104113637 104113637 15 AML diagnosis ins KIAA0907 frameshift V62fs NM_014949 20-PANLKB KIAA0907 FRAMESHIFT Ins Somatic -7 0.309 SQHIGH 13 35 48 0 25 25 A TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 22889 1 155903492 155903492 27 AML diagnosis ins NFX1 frameshift C542fs NM_002504 20-PANLKB NFX1 FRAMESHIFT Ins Somatic -2 0.532 SQHIGH 7 52 59 0 41 41 Cosmic_Gene A TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 4799 9 33318766 33318766 17 AML diagnosis ins FEM1B frameshift N511fs NM_015322 20-PANLKB FEM1B FRAMESHIFT Ins Somatic 0 0.647 SQHIGH 6 20 26 0 38 38 TC TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 10116 15 68583228 68583228 25 AML diagnosis ins LLGL1 frameshift A194fs NM_004140 20-PANLKB LLGL1 FRAMESHIFT Ins Somatic -6 0.354 SQHIGH 8 57 65 1 51 52 Cosmic_Gene G TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 3996 17 18137356 18137356 14 AML diagnosis del LLGL1 frameshift L195fs NM_004140 20-PANLKB LLGL1 FRAMESHIFT Del Somatic -6 0.278 SQHIGH 8 59 67 1 56 57 Cosmic_Gene G G G G TARGET-20-PANLKB-09A-03D TARGET-20-PANLKB-14A-02D 3996 17 18137360 18137360 15 AML diagnosis del LOC101928333 EXON E1_exon NM_000845 20-PANLLX GRM8 INTRON Del Somatic -9 0.230 SQHIGH 16 28 44 0 36 36 Cosmic_Gene T T T T TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 2918 7 126859663 126859663 48 AML diagnosis ins KRTAP10-5 frameshift Q206fs NM_198694 20-PANLLX TSPEAR|KRTAP10-5 INTRON|FRAMESHIFT Ins Somatic -8 0.255 SQHIGH 7 19 26 0 17 17 Cosmic_Gene A TARGET-20-PANLLX-09A-01D TARGET-20-PANLLX-14A-01D 54084|386680 21 45999839 45999839 17 AML diagnosis ins PIK3R1 frameshift I82fs NM_181523 20-PANNHB PIK3R1 FRAMESHIFT Ins Somatic -8 0.342 SQHIGH 16 35 51 0 57 57 Cosmic_Gene GGCC TARGET-20-PANNHB-09A-03D TARGET-20-PANNHB-14A-01D 5295 5 67522748 67522748 59 AML diagnosis ins MFSD5 frameshift A56fs NM_001170790 20-PANPTM MFSD5 FRAMESHIFT,TSS-UPSTREAM Ins Somatic 0 0.663 SQHIGH 22 29 51 0 35 35 Cosmic_Gene C TARGET-20-PANPTM-09A-02D TARGET-20-PANPTM-14A-02D 84975 12 53645682 53645682 60 AML diagnosis del NAPRT proteinDel A423_F424>A NM_145201 20-PANSBH C8orf73|NAPRT1 TSS-UPSTREAM|DELETE+ Del Somatic -4 0.294 SQHIGH 7 54 61 0 32 32 Cosmic_Gene AAA AAA AAA AAA TARGET-20-PANSBH-09A-02D TARGET-20-PANSBH-14A-01D 642475|93100 8 144657613 144657615 13 AML diagnosis ins CCND3 frameshift Q276fs NM_001760 20-PANSJB CCND3 FRAMESHIFT Ins Somatic -6 0.337 SQHIGH 6 8 14 1 21 22 TC TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 896 6 41903730 41903730 21 AML diagnosis ins FARSA frameshift G146fs NM_004461 20-PANSJB FARSA FRAMESHIFT Ins Somatic -5 0.377 SQHIGH 18 28 46 1 35 36 Cosmic_Gene C TARGET-20-PANSJB-09A-01D TARGET-20-PANSJB-14A-01D 2193 19 13041102 13041102 43 AML diagnosis ins TRIM8 frameshift A427fs NM_030912 20-PANTNA TRIM8 FRAMESHIFT Ins Somatic -8 0.305 SQHIGH 5 27 32 0 28 28 Cosmic_Gene C TARGET-20-PANTNA-09A-02D TARGET-20-PANTNA-14A-02D 81603 10 104416734 104416734 14 AML diagnosis ins ZBTB1 frameshift R285fs NM_001123329 20-PANUUA ZBTB1 FRAMESHIFT Ins Somatic -4 0.425 SQHIGH 4 23 27 0 36 36 Cosmic_Gene C TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 22890 14 64989077 64989077 15 AML diagnosis ins SMG1 frameshift L580fs NM_015092 20-PANUUA SMG1 FRAMESHIFT Ins Somatic -10 0.187 SQHIGH 6 26 32 1 36 37 Cosmic_Gene GC TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 23049 16 18887596 18887596 15 AML diagnosis ins STAU1 frameshift V4fs NM_017453 20-PANUUA STAU1 FRAMESHIFT,INTRON Ins Somatic 1 0.701 SQHIGH 6 22 28 1 34 35 Cosmic_Gene G TARGET-20-PANUUA-09A-03D TARGET-20-PANUUA-14A-01D 6780 20 47782727 47782727 16 AML diagnosis ins MN1 frameshift A1294fs NM_002430 20-PANVGE MN1 FRAMESHIFT Ins Somatic -2 0.523 SQHIGH 30 18 48 0 39 39 Cosmic_Gene AA TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 4330 22 28146983 28146983 104 AML relapse ins SRSF4 frameshift E324fs NM_005626 20-PANVGP SRSF4 FRAMESHIFT Ins Somatic 1 0.799 SQHIGH 5 18 23 0 42 42 G TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 6429 1 29475434 29475434 24 AML diagnosis ins CCND3 frameshift R271fs NM_001760 20-PANVUF CCND3 FRAMESHIFT Ins Somatic -7 0.298 SQHIGH 16 15 31 0 34 34 G TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 896 6 41903745 41903745 63 AML diagnosis ins EP300 frameshift E1678fs NM_001429 20-PANVUF EP300 FRAMESHIFT Ins Somatic -6 0.352 SQHIGH 25 28 53 0 44 44 Cosmic_Gene AGAC TARGET-20-PANVUF-09A-03D TARGET-20-PANVUF-14A-01D 2033 22 41572503 41572503 80 AML diagnosis del RUNX1 frameshift P125fs NM_001754 20-PANYCG RUNX1 FRAMESHIFT Del Somatic PFAM:PF00853:Runt 3 0.845 SQHIGH 11 17 28 2 42 44 Cosmic_Gene G G G G TARGET-20-PANYCG-09A-01D TARGET-20-PANYCG-14A-01D 861 21 36252988 36252988 35 AML diagnosis del THTPA frameshift D99fs NM_024328 20-PANYGP THTPA INTRON,FRAMESHIFT Del Somatic 0 0.500 SQHIGH 7 30 37 0 23 23 A A A A TARGET-20-PANYGP-09A-02D TARGET-20-PANYGP-14A-01D 79178 14 24026262 24026262 16 AML diagnosis ins DPP3 frameshift F331fs NM_005700 20-PANYSN DPP3 FRAMESHIFT Ins Somatic PFAM:PF03571:Peptidase_M49 -3 0.483 SQHIGH 18 49 67 0 50 50 Cosmic_Gene CGGGTCC TARGET-20-PANYSN-03A-02D TARGET-20-PANYSN-14A-01D 10072 11 66260190 66260190 49 AML diagnosis ins LLGL1 frameshift A194fs NM_004140 20-PANZWB LLGL1 FRAMESHIFT Ins Somatic 1 0.698 SQHIGH 8 38 46 0 60 60 Cosmic_Gene G TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 3996 17 18137356 18137356 31 AML diagnosis del LLGL1 frameshift L195fs NM_004140 20-PANZWB LLGL1 FRAMESHIFT Del Somatic -2 0.363 SQHIGH 8 41 49 0 62 62 Cosmic_Gene G G G G TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 3996 17 18137360 18137360 30 AML diagnosis del RIPK4 frameshift Y98fs NM_020639 20-PANZWB RIPK4 FRAMESHIFT Del Somatic -1 0.409 SQHIGH 11 45 56 1 40 41 Cosmic_Gene T T T T TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 54101 21 43176866 43176866 20 AML diagnosis ins MIR6750 EXON E32_exon NM_015104 20-PAPBEJ MIR6750 ACCEPTOR Ins Somatic -4 0.480 SQHIGH 11 43 54 1 28 29 Cosmic_Gene T TARGET-20-PAPBEJ-09A-02D TARGET-20-PAPBEJ-14A-01D 23130 11 64665838 64665838 15 AML diagnosis ins RCSD1 frameshift E226fs NM_052862 20-PAPVCN RCSD1 FRAMESHIFT Ins Somatic 1 0.721 SQHIGH 9 43 52 1 38 39 Cosmic_Gene C TARGET-20-PAPVCN-09A-03D TARGET-20-PAPVCN-14A-02D 92241 1 167666537 167666537 16 AML diagnosis del SYNE2 frameshift A1748fs NM_015180 20-PAPVCN SYNE2 FRAMESHIFT Del Somatic -5 0.284 SQHIGH 5 22 27 0 20 20 Cosmic_Gene C C C C TARGET-20-PAPVCN-09A-03D TARGET-20-PAPVCN-14A-02D 23224 14 64488124 64488124 13 AML diagnosis del ASXL2 frameshift P424fs NM_018263 20-PAPVDV ASXL2 FRAMESHIFT Del Somatic 1 0.601 SQHIGH 11 32 43 2 53 55 Cosmic_Gene G G G G TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 55252 2 25973154 25973154 28 AML diagnosis ins BTN3A1 proteinIns K284>KKR NM_007048 20-PAPVDV BTN3A1 INSERT Ins Somatic 1 0.718 SQHIGH 12 74 88 2 54 56 Cosmic_Gene AAAGAG TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 11119 6 26409896 26409896 14 AML diagnosis ins GSTA2 splice_region L91_E4splice_region NM_000846 20-PAPVDV GSTA2 DONOR Ins Somatic -5 0.392 SQHIGH 17 48 65 1 87 88 Cosmic_Gene T TARGET-20-PAPVDV-09A-03D TARGET-20-PAPVDV-14A-01D 2939 6 52619737 52619737 58 AML diagnosis ins C1orf112 frameshift A610fs NM_018186 20-PAPWHS C1orf112 FRAMESHIFT Ins Somatic -5 0.414 SQHIGH 15 12 27 2 23 25 T TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 55732 1 169811661 169811661 36 AML diagnosis ins ASXL2 frameshift T740fs NM_018263 20-PAPWHS ASXL2 FRAMESHIFT Ins Somatic 0 0.675 SQHIGH 33 43 76 1 69 70 Cosmic_Gene GCTT TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 55252 2 25966987 25966987 99 AML diagnosis ins SPRED2 frameshift R175fs NM_181784 20-PAPWHS SPRED2 FRAMESHIFT Ins Somatic -4 0.458 SQHIGH 19 32 51 3 45 48 Cosmic_Gene T TARGET-20-PAPWHS-09A-03D TARGET-20-PAPWHS-14A-02D 200734 2 65543932 65543932 38 AML diagnosis ins CPZ frameshift F478fs NM_001014447 20-PAPWIU CPZ FRAMESHIFT Ins Somatic -7 0.332 SQHIGH 5 25 33 0 41 43 Cosmic_Gene C TARGET-20-PAPWIU-09A-03D TARGET-20-PAPWIU-14A-01D 8532 4 8616155 8616155 20 AML diagnosis ins PTK2B frameshift E970fs NM_173174 20-PAPWIU PTK2B FRAMESHIFT Ins Somatic PFAM:PF03623:Focal_AT 2 0.792 SQHIGH 4 21 25 0 46 46 Cosmic_Gene C TARGET-20-PAPWIU-09A-03D TARGET-20-PAPWIU-14A-01D 2185 8 27315904 27315904 19 AML relapse ins PTK6 frameshift E76fs NM_005975 20-PAPXRJ PTK6 FRAMESHIFT Ins Somatic -6 0.355 SQHIGH 7 27 34 1 39 40 Cosmic_Gene C TARGET-20-PAPXRJ-04A-02D TARGET-20-PAPXRJ-14A-01D 5753 20 62168440 62168440 18 AML diagnosis ins CSPG4 proteinIns E93>EE NM_001897 20-PAPXRJ CSPG4 INSERT Ins Somatic -10 0.185 SQHIGH 6 17 23 0 22 22 Cosmic_Gene CTC TARGET-20-PAPXRJ-09A-02D TARGET-20-PAPXRJ-14A-01D 1464 15 75983126 75983126 19 AML diagnosis del RUSC2 frameshift G724_C725fs NM_001135999 20-PARANT RUSC2 FRAMESHIFT Del Somatic -10 0.213 SQHIGH 3 12 15 0 33 33 Cosmic_Gene GGCT GGCT GGCT GGCT TARGET-20-PARANT-09A-02D TARGET-20-PARANT-14A-01D 9853 9 35555212 35555215 16 AML diagnosis ins CBFB proteinIns D87>GDSY NM_022845 20-PARANT CBFB INSERT+ Ins Somatic PFAM:PF02312:CBF_beta -1 0.565 SQHIGH 9 25 34 0 27 27 Cosmic_Gene GAGATTCCT TARGET-20-PARANT-09A-02D TARGET-20-PARANT-14A-01D 865 16 67070635 67070635 25 AML relapse del MIR7160 EXON E11_exon NM_003970 20-PARASV MYOM2 INTRON Del Somatic -7 0.264 SQHIGH 4 14 18 0 23 23 Cosmic_Gene C C C C TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 9172 8 2024678 2024678 15 AML relapse del CNP proteinDel T45_G60>T NM_033133 20-PARASV LOC100652963|CNP TSS-UPSTREAM|DELETE+ Del Somatic PFAM:PF00485:PRK -1 0.442 SQHIGH 11 89 100 0 136 136 GCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGG GCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGG GCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGG GCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGG TARGET-20-PARASV-04A-02D TARGET-20-PARASV-14A-01D 100652963|1267 17 40120217 40120261 42 AML diagnosis del TAPT1 frameshift R231fs NM_153365 20-PARBFJ TAPT1 FRAMESHIFT Del Somatic PFAM:PF05346:DUF747 -4 0.336 SQHIGH 8 10 18 0 20 20 TC TC TC TC TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 202018 4 16189898 16189899 30 AML diagnosis ins NPM1 frameshift L287fs NM_002520 20-PARBFJ NPM1 FRAMESHIFT Ins Somatic 3 0.805 SQHIGH 17 15 32 0 36 37 COSMIC:mut:17571 Cosmic_Gene TGCA TARGET-20-PARBFJ-09A-02D TARGET-20-PARBFJ-14A-01D 4869 5 170837545 170837545 69 AML relapse del SETD2 frameshift Q2314fs NM_014159 20-PARBIU SETD2 FRAMESHIFT Del Somatic 1 0.625 SQHIGH 21 30 51 2 61 63 Cosmic_Gene T T T T TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 29072 3 47098333 47098333 65 AML relapse ins MUC22 frameshift T389fs NM_001198815 20-PARBIU MUC22 FRAMESHIFT Ins Somatic -7 0.335 SQHIGH 7 31 38 0 58 58 G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 100507679 6 30994373 30994373 30 AML relapse del PRRC2B frameshift D399fs NM_013318 20-PARBIU PRRC2B FRAMESHIFT Del Somatic 0 0.544 SQHIGH 4 20 24 0 56 56 Cosmic_Gene C C C C TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 84726 9 134330539 134330539 22 AML relapse ins TTC28 frameshift A1000fs NM_001145418 20-PARBIU TTC28 FRAMESHIFT Ins Somatic -8 0.261 SQHIGH 9 63 72 1 83 84 G TARGET-20-PARBIU-04A-01D TARGET-20-PARBIU-14A-01D 23331 22 28501573 28501573 24 AML diagnosis ins ZNF407 frameshift E1861fs NM_017757 20-PARBIU ZNF407 FRAMESHIFT Ins Somatic -7 0.339 SQHIGH 9 34 43 2 41 43 Cosmic_Gene C TARGET-20-PARBIU-09A-02D TARGET-20-PARBIU-14A-01D 55628 18 72775258 72775258 16 AML relapse ins PUS10 frameshift G310fs NM_144709 20-PARBRA PUS10 FRAMESHIFT Ins Somatic 3 0.939 SQHIGH 12 22 34 0 41 41 Cosmic_Gene GAGA TARGET-20-PARBRA-04A-02D TARGET-20-PARBRA-14A-01D 150962 2 61187598 61187598 47 AML relapse del CDC34 frameshift K152_E153fs NM_004359 20-PARBRA CDC34 FRAMESHIFT Del Somatic -1 0.526 SQHIGH 17 60 77 2 93 95 AG AG AG AG TARGET-20-PARBRA-04A-02D TARGET-20-PARBRA-14A-01D 997 19 537106 537107 46 AML diagnosis ins BTBD18 frameshift K132fs NM_001145101 20-PARBTC TMX2-CTNND1|BTBD18 INTRON|FRAMESHIFT Ins Somatic -7 0.280 SQHIGH 12 76 88 1 51 52 A TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 100528016|643376 11 57513348 57513348 18 AML diagnosis del TBCB frameshift S29fs NM_001281 20-PARBTC POLR2I|TBCB TSS-UPSTREAM|FRAMESHIFT Del Somatic -5 0.278 SQHIGH 6 20 26 0 23 23 GC GC GC GC TARGET-20-PARBTC-03A-01D TARGET-20-PARBTC-10A-01D 5438|1155 19 36606548 36606549 18 AML relapse del HFM1 frameshift L1373fs NM_001017975 20-PARBXE HFM1 FRAMESHIFT Del Somatic -9 0.225 SQHIGH 4 7 11 0 33 33 A A A A TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 164045 1 91727918 91727918 26 AML relapse ins LCE2A frameshift P35fs NM_178428 20-PARBXE LCE2A FRAMESHIFT Ins Somatic -9 0.221 SQHIGH 4 7 11 0 25 25 G TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 353139 1 152671482 152671482 23 AML relapse ins C4orf17 frameshift N320fs NM_032149 20-PARBXE C4orf17 FRAMESHIFT Ins Somatic -9 0.221 SQHIGH 4 23 27 0 37 37 T TARGET-20-PARBXE-04A-02D TARGET-20-PARBXE-14A-01D 84103 4 100463144 100463144 16 AML diagnosis del DYNC2H1 frameshift L3291fs NM_001377 20-PARBXE DYNC2H1 FRAMESHIFT Del Somatic PFAM:PF12781:AAA_9 -8 0.228 SQHIGH 7 13 20 0 27 27 A A A A TARGET-20-PARBXE-09A-01D TARGET-20-PARBXE-14A-01D 79659 11 103114475 103114475 29 AML diagnosis del MST1R splice_region N1179_E17splice_region NM_002447 20-PARCCH MST1R ACCEPTOR Del Somatic -4 0.283 SQHIGH 10 72 82 0 40 40 Cosmic_Gene ACA ACA ACA ACA TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 4486 3 49928748 49928750 18 AML diagnosis del HMX2 proteinDel T224del NM_005519 20-PARCCH BUB3|HMX2 TSS-UPSTREAM|DELETE Del Somatic 0 0.458 SQHIGH 17 85 102 0 40 40 Cosmic_Gene ACT ACT ACT ACT TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 9184|3167 10 124909487 124909489 26 AML diagnosis ins SACS frameshift K955fs NM_014363 20-PARCCH SACS FRAMESHIFT Ins Somatic -6 0.309 SQHIGH 7 31 38 0 41 41 Cosmic_Gene C TARGET-20-PARCCH-03A-02D TARGET-20-PARCCH-14A-02D 26278 13 23915150 23915150 24 AML diagnosis ins HRASLS2 frameshift P8fs NM_017878 20-PARCEC HRASLS2 FRAMESHIFT Ins Somatic 3 0.843 SQHIGH 25 33 58 1 51 52 GCTCTGAGGA TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 54979 11 63327651 63327651 71 AML diagnosis ins CBFB proteinIns D87>GDSY NM_022845 20-PARCEC CBFB INSERT+ Ins Somatic PFAM:PF02312:CBF_beta 2 0.806 SQHIGH 15 17 32 0 33 33 Cosmic_Gene GAGACTCCT TARGET-20-PARCEC-03A-02D TARGET-20-PARCEC-10A-01D 865 16 67070635 67070635 56 AML relapse del CORO1B frameshift Q111_I112fs NM_020441 20-PARCUK CORO1B|PTPRCAP FRAMESHIFT|TSS-UPSTREAM Del Somatic PFAM:PF00400:WD40 -10 0.214 SQHIGH 5 40 45 0 34 34 Cosmic_Gene ATCT ATCT ATCT ATCT TARGET-20-PARCUK-04A-02D TARGET-20-PARCUK-14A-02D 57175|5790 11 67209323 67209326 13 AML diagnosis del PDLIM2 frameshift S209_E210fs NM_176871 20-PARCUK PDLIM2 FRAMESHIFT Del Somatic -2 0.359 SQHIGH 12 6 18 0 30 30 GGAA GGAA GGAA GGAA TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 64236 8 22447118 22447121 66 AML diagnosis ins SACS frameshift K955fs NM_014363 20-PARCUK SACS FRAMESHIFT Ins Somatic -7 0.282 SQHIGH 10 41 51 1 30 31 Cosmic_Gene C TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 26278 13 23915150 23915150 15 AML diagnosis ins IRF8 frameshift P394fs NM_002163 20-PARCUK IRF8 FRAMESHIFT Ins Somatic -7 0.282 SQHIGH 34 9 43 0 47 47 Cosmic_Gene CCCCG TARGET-20-PARCUK-09A-03D TARGET-20-PARCUK-14A-02D 3394 16 85954789 85954789 161 AML diagnosis del ZBTB17 proteinDel F747_G760del NM_003443 20-PARCVS ZBTB17 DELETE Del Somatic -3 0.322 SQHIGH 14 96 110 2 104 106 ACCTGGCCCATACTGCTGATAGAAGTCCGCGTCTGTCTGGAA ACCTGGCCCATACTGCTGATAGAAGTCCGCGTCTGTCTGGAA ACCTGGCCCATACTGCTGATAGAAGTCCGCGTCTGTCTGGAA ACCTGGCCCATACTGCTGATAGAAGTCCGCGTCTGTCTGGAA TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 7709 1 16268596 16268637 27 AML diagnosis ins ZNF687 frameshift D1187fs NM_020832 20-PARCVS ZNF687 FRAMESHIFT Ins Somatic -7 0.317 SQHIGH 14 24 38 1 35 36 Cosmic_Gene C TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 57592 1 151263530 151263530 37 AML diagnosis ins TNK1 frameshift L253fs NM_003985 20-PARCVS TNK1 FRAMESHIFT Ins Somatic PFAM:PF03109:ABC1 -5 0.420 SQHIGH 11 34 45 0 30 30 Cosmic_Gene T TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 8711 17 7287465 7287465 27 AML diagnosis del ZNF571 proteinDel M65_E66del NM_016536 20-PARCVS ZNF571|LOC100507433 DELETE|INTRON Del Somatic 2 0.698 SQHIGH 19 29 48 0 76 76 TTCCAT TTCCAT TTCCAT TTCCAT TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 51276|100507433 19 38057132 38057137 90 AML relapse ins ZNF687 frameshift D1187fs NM_020832 20-PARCVS ZNF687 FRAMESHIFT Ins Somatic -7 0.302 SQHIGH 14 20 34 1 35 36 Cosmic_Gene C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 57592 1 151263530 151263530 41 AML relapse del HNRNPA2B1 proteinDel E109_D110>D NM_002137 20-PARCVS CBX3|HNRNPA2B1 TSS-UPSTREAM|DELETE Del Somatic -1 0.425 SQHIGH 7 26 33 0 39 39 Cosmic_Gene TCT TCT TCT TCT TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 11335|3181 7 26236573 26236575 25 AML relapse del ZNF571 proteinDel M65_E66del NM_016536 20-PARCVS ZNF571|LOC100507433 DELETE|INTRON Del Somatic 1 0.596 SQHIGH 15 43 58 0 76 76 TTCCAT TTCCAT TTCCAT TTCCAT TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 51276|100507433 19 38057132 38057137 60 AML relapse ins ZNF687 frameshift P937fs NM_020832 20-PARCZL ZNF687 FRAMESHIFT Ins Somatic -6 0.347 SQHIGH 19 38 57 1 35 36 Cosmic_Gene C TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 57592 1 151262327 151262327 36 AML relapse ins H2AFZ proteinIns L77>LGS NM_002106 20-PARCZL LOC256880|H2AFZ|DNAJB14 TSS-UPSTREAM|INSERT+|TSS-UPSTREAM Ins Somatic 1 0.724 SQHIGH 22 45 67 0 61 61 GACCCC TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 256880|3015|79982 4 100870062 100870062 70 AML relapse ins KMT2D frameshift K4756fs NM_003482 20-PARCZL KMT2D FRAMESHIFT Ins Somatic -4 0.435 SQHIGH 20 48 68 1 72 73 Cosmic_Gene T TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 8085 12 49422724 49422724 60 AML diagnosis ins DPCR1 frameshift E227fs NM_080870 20-PARCZL DPCR1 FRAMESHIFT Ins Somatic -7 0.301 SQHIGH 6 10 16 0 15 15 A TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 135656 6 30916920 30916920 20 AML diagnosis ins OR52L1 frameshift K313fs NM_001005173 20-PARCZL OR52L1 FRAMESHIFT Ins Somatic -10 0.185 SQHIGH 5 31 36 0 37 37 Cosmic_Gene G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 338751 11 6007223 6007223 16 AML diagnosis ins CRY2 frameshift S85fs NM_021117 20-PARCZL CRY2 FRAMESHIFT,INTRON Ins Somatic PFAM:PF00875:DNA_photolyase -4 0.436 SQHIGH 9 37 46 0 44 44 Cosmic_Gene G TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 1408 11 45869231 45869231 28 AML diagnosis del F10 nonsense Y203_D204>* NM_000504 20-PARCZL F10 NONSENSE Del Somatic 0 0.521 SQHIGH 20 67 87 0 57 57 Cosmic_Gene TGAT TGAT TGAT TGAT TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 2159 13 113798271 113798274 48 AML diagnosis del FTO-IT1 EXON E8_exon NM_001080432 20-PARCZL FTO|LOC100505692 INTRON|UTR Del Somatic -6 0.277 SQHIGH 9 17 26 1 23 24 C C C C TARGET-20-PARCZL-09A-02D TARGET-20-PARCZL-14A-02D 79068|100505692 16 54073858 54073858 21 AML relapse ins PHF2 frameshift A751fs NM_005392 20-PARDDY PHF2 FRAMESHIFT Ins Somatic -8 0.240 SQHIGH 4 8 15 0 13 15 Cosmic_Gene AGAGTCAAGAAGG TARGET-20-PARDDY-04A-03D TARGET-20-PARDDY-14A-01D 5253 9 96429427 96429427 14 AML diagnosis del MYC proteinDel D278_V279>D NM_002467 20-PARDDY MYC DELETE Del Somatic PFAM:PF01056:Myc_N 5 0.984 SQHIGH 22 45 67 0 83 83 Cosmic_Gene TGT TGT TGT TGT TARGET-20-PARDDY-09A-03D TARGET-20-PARDDY-14A-01D 4609 8 128752673 128752675 87 AML diagnosis del GATA1 frameshift S72_V74fs NM_002049 20-PARDDY GATA1 SPAN3 Del Somatic 5 0.984 SQHIGH 18 8 26 0 28 28 Cosmic_Gene CCCAGGTAACT CCCAGGTAACT TARGET-20-PARDDY-09A-03D TARGET-20-PARDDY-14A-01D 2623 X 48649732 48649742 78 AML diagnosis ins TEDDM1 frameshift M196fs NM_172000 20-PARDEV TEDDM1 FRAMESHIFT Ins Somatic PFAM:PF04819:DUF716 3 0.843 SQHIGH 10 33 43 1 44 45 Cosmic_Gene C TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 127670 1 182369034 182369034 25 AML diagnosis ins PSG8 frameshift T146fs NM_182707 20-PARDEV PSG8|LOC100505701 FRAMESHIFT|TSS-UPSTREAM Ins Somatic -2 0.543 SQHIGH 7 32 39 1 42 44 T TARGET-20-PARDEV-03A-01D TARGET-20-PARDEV-10A-01D 440533|100505701 19 43262426 43262426 17 AML relapse del IL10RA frameshift T368_D369fs NM_001558 20-PARDMG IL10RA FRAMESHIFT,UTR Del Somatic -5 0.323 SQHIGH 3 16 19 0 46 46 Cosmic_Gene ACAG ACAG ACAG ACAG TARGET-20-PARDMG-04A-01D TARGET-20-PARDMG-14B-01D 3587 11 117869721 117869724 17 AML relapse ins FRMD7 frameshift R703fs NM_194277 20-PARDMG FRMD7 FRAMESHIFT Ins Somatic -5 0.368 SQHIGH 5 25 30 0 49 49 Cosmic_Gene T TARGET-20-PARDMG-04A-01D TARGET-20-PARDMG-14B-01D 90167 X 131211937 131211937 22 AML diagnosis del SRCAP frameshift G1359_R1362fs NM_006662 20-PARDMG SRCAP FRAMESHIFT Del Somatic -1 0.432 SQHIGH 20 28 48 0 50 50 Cosmic_Gene TACTGCTC TACTGCTC TACTGCTC TACTGCTC TARGET-20-PARDMG-09A-01D TARGET-20-PARDMG-14B-01D 10847 16 30734468 30734475 73 AML relapse ins BHLHE22 frameshift L200fs NM_152414 20-PARFAL BHLHE22|LOC401463 FRAMESHIFT|TSS-UPSTREAM Ins Somatic -10 0.188 SQHIGH 3 8 11 0 21 21 C TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 27319|401463 8 65493947 65493947 15 AML relapse ins MUC5B frameshift A3181fs NM_002458 20-PARFAL MUC5B FRAMESHIFT Ins Somatic -2 0.612 SQHIGH 20 52 72 3 30 33 AT TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 727897 11 1267651 1267651 16 AML diagnosis ins GOLGA3 frameshift K1493fs NM_005895 20-PARFAL GOLGA3 FRAMESHIFT Ins Somatic -6 0.407 SQHIGH 4 22 26 0 41 41 Cosmic_Gene C TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 2802 12 133349709 133349709 17 AML diagnosis ins LOC101928103 EXON E39_exon NM_173076 20-PARFIW ABCA12 INTRON Ins Somatic -9 0.186 SQHIGH 5 12 17 0 25 25 Cosmic_Gene A TARGET-20-PARFIW-03A-01D TARGET-20-PARFIW-14A-02D 26154 2 215828144 215828144 21 AML diagnosis ins CMPK2 frameshift A91fs NM_207315 20-PARFRN CMPK2 FRAMESHIFT Ins Somatic -9 0.192 SQHIGH 4 6 10 0 15 15 A TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 129607 2 7005556 7005556 18 AML diagnosis del WAC frameshift A127fs NM_016628 20-PARFRN WAC SPAN3 Del Somatic -5 0.279 SQHIGH 5 14 19 0 16 16 Cosmic_Gene AGTA AGTA AGTA AGTA TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 51322 10 28872434 28872437 14 AML diagnosis ins KANSL1 frameshift P758fs NM_015443 20-PARFRN KANSL1 FRAMESHIFT Ins Somatic 3 0.836 SQHIGH 21 35 56 0 63 63 Cosmic_Gene GCACTGGA TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 284058 17 44116512 44116512 79 AML diagnosis ins SLC36A2 splice_region M86_E3splice_region NM_181776 20-PARFXF SLC36A2 ACCEPTOR Ins Somatic -7 0.300 SQHIGH 8 25 33 1 29 30 Cosmic_Gene C TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 153201 5 150723166 150723166 17 AML diagnosis ins ZNF618 proteinIns L265>LGDP NM_133374 20-PARFXF ZNF618 INSERT Ins Somatic 2 0.765 SQHIGH 27 30 57 0 66 66 GGAGACCCC TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 114991 9 116779051 116779051 109 AML diagnosis ins TET2 frameshift G645fs NM_001127208 20-PARGDB TET2 FRAMESHIFT Ins Somatic 0 0.654 SQHIGH 5 21 26 0 44 44 Cosmic_Gene G TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 54790 4 106157031 106157031 23 AML diagnosis del MICALL2 frameshift R200_H201fs NM_182924 20-PARGDB MICALL2 FRAMESHIFT Del Somatic -5 0.335 SQHIGH 3 8 11 0 19 19 Cosmic_Gene GTGCC GTGCC GTGCC GTGCC TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 79778 7 1486387 1486391 14 AML diagnosis ins POTEH frameshift T475fs NM_001136213 20-PARGDB POTEH FRAMESHIFT Ins Somatic -5 0.396 SQHIGH 5 20 25 0 26 26 Cosmic_Gene C TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 23784 22 16267024 16267024 16 AML relapse del ATP6V0A2 frameshift M554_V556fs NM_012463 20-PARGDB ATP6V0A2 NONSENSE Del Somatic PFAM:PF01496:V_ATPase_I -4 0.372 SQHIGH 15 35 50 0 35 35 Cosmic_Gene ATGTCCG ATGTCCG ATGTCCG ATGTCCG TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 23545 12 124232208 124232214 39 AML diagnosis ins SH3BP2 frameshift A30fs NM_003023 20-PARGVC SH3BP2 FRAMESHIFT Ins Somatic -6 0.322 SQHIGH 10 26 36 0 38 38 Cosmic_Gene CTGGCTAC TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 6452 4 2822432 2822432 35 AML diagnosis ins TRERF1 frameshift Q380fs NM_033502 20-PARGVC TRERF1 FRAMESHIFT Ins Somatic 1 0.696 SQHIGH 24 18 42 0 40 40 Cosmic_Gene GGAG TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 55809 6 42236188 42236188 90 AML diagnosis del RWDD2A proteinDel R180_L181>R NM_033411 20-PARGVC RWDD2A|PGM3 DELETE+|TSS-UPSTREAM Del Somatic PFAM:PF06544:DUF1115 -4 0.305 SQHIGH 7 73 80 0 76 76 GTT GTT GTT GTT TARGET-20-PARGVC-03A-04D TARGET-20-PARGVC-14A-02D 112611|5238 6 83905652 83905654 21 AML diagnosis ins TEDDM1 frameshift M196fs NM_172000 20-PARIEG TEDDM1 FRAMESHIFT Ins Somatic PFAM:PF04819:DUF716 -7 0.284 SQHIGH 8 54 62 1 51 52 Cosmic_Gene C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 127670 1 182369034 182369034 15 AML diagnosis ins EGLN1 frameshift G219fs NM_022051 20-PARIEG EGLN1 FRAMESHIFT Ins Somatic -6 0.332 SQHIGH 7 34 41 0 73 73 C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 54583 1 231556978 231556978 33 AML relapse ins HNRNPD splice_region V208_E5splice_region NM_031370 20-PARIHK HNRNPD ACCEPTOR Ins Somatic -8 0.262 SQHIGH 6 13 19 1 22 23 A TARGET-20-PARIHK-04A-02D TARGET-20-PARIHK-14A-02D 3184 4 83278605 83278605 16 AML relapse del FLJ13224 EXON E1_exon NM_001135811 20-PARIHK FLJ13224|FAM60A UTR|INTRON Del Somatic -1 0.434 SQHIGH 19 85 104 0 73 73 CACTAAACACGAGCGTAC CACTAAACACGAGCGTAC CACTAAACACGAGCGTAC CACTAAACACGAGCGTAC TARGET-20-PARIHK-04A-02D TARGET-20-PARIHK-14A-02D 79857|58516 12 31478752 31478769 47 AML relapse del HECW1 proteinDel S701_C702>S NM_015052 20-PARIMT HECW1 DELETE+ Del Somatic -3 0.400 SQHIGH 5 13 18 3 65 68 Cosmic_Gene GTG GTG GTG GTG TARGET-20-PARIMT-04A-01D TARGET-20-PARIMT-10A-01D 23072 7 43484874 43484876 20 AML relapse ins USP29 frameshift M369fs NM_020903 20-PARIMT USP29 FRAMESHIFT Ins Somatic -8 0.272 SQHIGH 8 26 34 2 34 36 Cosmic_Gene A TARGET-20-PARIMT-04A-01D TARGET-20-PARIMT-10A-01D 57663 19 57641150 57641150 15 AML diagnosis del FCRLB frameshift P347fs NM_001002901 20-PARIMT FCRLB FRAMESHIFT Del Somatic -10 0.234 SQHIGH 3 5 8 0 18 18 G G G G TARGET-20-PARIMT-09A-01D TARGET-20-PARIMT-10A-01D 127943 1 161697212 161697212 17 AML diagnosis ins PKD1L2 frameshift C778fs NM_001076780 20-PARIZR PKD1L2 FRAMESHIFT Ins Somatic PFAM:PF02010:REJ -9 0.242 SQHIGH 4 29 54 0 40 52 Cosmic_Gene GCAG TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 114780 16 81211514 81211514 14 AML relapse del KAT6A frameshift V1538fs NM_001099412 20-PARJCR KAT6A FRAMESHIFT Del Somatic 1 0.599 SQHIGH 7 21 28 0 40 40 AC AC AC AC TARGET-20-PARJCR-04A-02D TARGET-20-PARJCR-14A-01D 7994 8 41791125 41791126 29 AML relapse ins LPHN1 frameshift K1102fs NM_001008701 20-PARJCR LOC100507373|LPHN1 UTR|FRAMESHIFT Ins Somatic -3 0.457 SQHIGH 20 47 67 0 55 55 Cosmic_Gene T TARGET-20-PARJCR-04A-02D TARGET-20-PARJCR-14A-01D 100507373|22859 19 14266174 14266174 59 AML diagnosis del DENND4B frameshift L513fs NM_014856 20-PARKCX DENND4B FRAMESHIFT Del Somatic 0 0.497 SQHIGH 8 22 30 1 29 30 Cosmic_Gene C C C C TARGET-20-PARKCX-09A-02D TARGET-20-PARKCX-14A-01D 9909 1 153912696 153912696 19 AML diagnosis ins GALC splice_region G251_E8splice_region NM_000153 20-PARKCX GALC ACCEPTOR Ins Somatic -9 0.248 SQHIGH 5 10 15 0 21 21 A TARGET-20-PARKCX-09A-02D TARGET-20-PARKCX-14A-01D 2581 14 88434838 88434838 21 AML relapse ins SLC36A2 splice_region M86_E3splice_region NM_181776 20-PARLVL SLC36A2 ACCEPTOR Ins Somatic -5 0.487 SQHIGH 6 26 32 1 49 50 Cosmic_Gene C TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 153201 5 150723166 150723166 19 AML relapse ins KIF16B frameshift L586fs NM_024704 20-PARLVL KIF16B FRAMESHIFT Ins Somatic -6 0.427 SQHIGH 4 25 29 1 53 54 Cosmic_Gene A TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 55614 20 16385484 16385484 13 AML diagnosis ins SMARCA5-AS1 EXON E1_exon NM_003601 20-PARLVL SMARCA5-AS1|SMARCA5 UTR|UTR5 Ins Somatic -7 0.362 SQHIGH 22 39 61 2 53 55 Cosmic_Gene A TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 100128055|8467 4 144434632 144434632 51 AML diagnosis ins CEBPA proteinIns K313>KK NM_004364 20-PARLVL LOC80054|CEBPA TSS-UPSTREAM|INSERT Ins Somatic PFAM:PF00170:bZIP_1 -5 0.496 SQHIGH 18 17 35 0 21 21 COSMIC:mut:18099,COSMIC:mut:18447 Cosmic_Gene CTT TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 80054|1050 19 33792381 33792381 47 AML diagnosis del EP300 splice T1224_E20splice NM_001429 20-PARLVL EP300 DISRUPT Del Somatic 2 0.759 SQHIGH 13 34 47 1 38 39 Cosmic_Gene G G G G TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 2033 22 41556727 41556727 29 AML diagnosis ins KRTAP10-3 frameshift L197fs NM_198696 20-PARMGX TSPEAR|KRTAP10-3 INTRON|FRAMESHIFT Ins Somatic 2 0.741 SQHIGH 4 20 24 1 49 50 Cosmic_Gene C TARGET-20-PARMGX-09A-02D TARGET-20-PARMGX-14A-02D 54084|386682 21 45978008 45978008 14 AML diagnosis ins DPY19L4 splice F545_E16splice NM_181787 20-PARNIA DPY19L4 SPAN5 Ins Somatic PFAM:PF10034:Dpy19 -6 0.300 SQHIGH 5 20 25 0 32 32 Cosmic_Gene T TARGET-20-PARNIA-09A-03D TARGET-20-PARNIA-14A-02D 286148 8 95793311 95793311 19 AML diagnosis ins SECISBP2 frameshift R789fs NM_024077 20-PARNZW SECISBP2 FRAMESHIFT Ins Somatic -8 0.238 SQHIGH 5 22 27 1 41 42 Cosmic_Gene CA TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 79048 9 91973012 91973012 15 AML diagnosis ins BTBD18 frameshift K132fs NM_001145101 20-PARNZW TMX2-CTNND1|BTBD18 INTRON|FRAMESHIFT Ins Somatic -8 0.238 SQHIGH 12 57 69 2 46 48 A TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 100528016|643376 11 57513348 57513348 16 AML diagnosis del SLC22A6 frameshift V308fs NM_004790 20-PARNZW SLC22A6 FRAMESHIFT Del Somatic -10 0.206 SQHIGH 4 26 30 0 32 32 C C C C TARGET-20-PARNZW-03A-03D TARGET-20-PARNZW-14A-02D 9356 11 62748572 62748572 13 AML relapse ins FRAS1 frameshift L456fs NM_025074 20-PARNZW FRAS1 FRAMESHIFT Ins Somatic -8 0.240 SQHIGH 3 24 27 0 47 47 Cosmic_Gene G TARGET-20-PARNZW-40A-01D TARGET-20-PARNZW-14A-02D 80144 4 79205670 79205670 13 AML relapse ins EML5 splice_region G915_E19splice_region NM_183387 20-PARNZW EML5 ACCEPTOR Ins Somatic -6 0.322 SQHIGH 7 13 20 2 26 28 Cosmic_Gene A TARGET-20-PARNZW-40A-01D TARGET-20-PARNZW-14A-02D 161436 14 89153677 89153677 17 AML relapse ins LLGL1 frameshift A194fs NM_004140 20-PARNZW LLGL1 FRAMESHIFT Ins Somatic -3 0.441 SQHIGH 8 36 44 1 60 61 Cosmic_Gene G TARGET-20-PARNZW-40A-01D TARGET-20-PARNZW-14A-02D 3996 17 18137356 18137356 24 AML relapse del LLGL1 frameshift L195fs NM_004140 20-PARNZW LLGL1 FRAMESHIFT Del Somatic -2 0.353 SQHIGH 8 38 46 1 68 69 Cosmic_Gene G G G G TARGET-20-PARNZW-40A-01D TARGET-20-PARNZW-14A-02D 3996 17 18137360 18137360 26 AML diagnosis ins BZRAP1 splice_region L340_E6splice_region NM_004758 20-PARPDS BZRAP1|LOC100506779 DONOR|TSS-UPSTREAM Ins Somatic -9 0.194 SQHIGH 5 19 24 0 23 23 Cosmic_Gene ACCAGCTG TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 9256|100506779 17 56400826 56400826 16 AML diagnosis del MYO5B splice Q1771_E38splice NM_001080467 20-PARPDS MYO5B DISRUPT Del Somatic -8 0.246 SQHIGH 3 10 13 0 21 21 Cosmic_Gene C C C C TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 4645 18 47363080 47363080 13 AML diagnosis ins FSIP2 proteinIns E81>EGAE NM_173651 20-PARPPY FSIP2 INSERT Ins Somatic -7 0.296 SQHIGH 5 25 31 0 30 38 GGGGCTGAG TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 401024 2 186603597 186603597 16 AML diagnosis ins SUPT5H proteinIns R652>RAGG NM_003169 20-PARPPY SUPT5H INSERT+ Ins Somatic -4 0.495 SQHIGH 27 47 74 0 89 89 Cosmic_Gene GGGCAGGAG TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 6829 19 39963052 39963052 106 AML diagnosis ins PEG3 frameshift E1362fs NM_006210 20-PARPPY ZIM2|PEG3 INTRON|FRAMESHIFT Ins Somatic -10 0.176 SQHIGH 4 16 20 0 44 44 Cosmic_Gene G TARGET-20-PARPPY-09A-02D TARGET-20-PARPPY-14A-01D 23619|5178 19 57325724 57325724 21 AML relapse del GATA2 frameshift T80_G82fs NM_001145661 20-PARPPY LOC100506995|GATA2 TSS-UPSTREAM|FRAMESHIFT Del Somatic 1 0.588 SQHIGH 11 48 59 0 59 59 Cosmic_Gene CCTCCGGT CCTCCGGT CCTCCGGT CCTCCGGT TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 100506995|2624 3 128205196 128205203 35 AML relapse ins EVC frameshift F583fs NM_153717 20-PARPPY EVC FRAMESHIFT Ins Somatic -9 0.202 SQHIGH 11 42 53 2 54 56 Cosmic_Gene C TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 2121 4 5785463 5785463 22 AML relapse ins ZBTB7A frameshift F356fs NM_015898 20-PARPPY ZBTB7A FRAMESHIFT Ins Somatic -6 0.366 SQHIGH 9 17 26 1 26 27 Cosmic_Gene GG TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 51341 19 4054162 4054162 23 AML relapse del OSBP frameshift S385fs NM_002556 20-PARSAN OSBP FRAMESHIFT Del Somatic -8 0.237 SQHIGH 5 15 20 0 16 16 Cosmic_Gene T T T T TARGET-20-PARSAN-04B-01D TARGET-20-PARSAN-14A-02D 5007 11 59368318 59368318 14 AML diagnosis ins NEIL2 frameshift H282fs NM_145043 20-PARSHM NEIL2 FRAMESHIFT Ins Somatic -8 0.230 SQHIGH 5 39 44 0 39 39 G TARGET-20-PARSHM-03A-02D TARGET-20-PARSHM-14A-01D 252969 8 11643628 11643628 14 AML relapse del SARM1 proteinDel N382_G383>S NM_015077 20-PARSHM SARM1 DELETE+ Del Somatic 0 0.505 SQHIGH 7 53 60 1 62 63 ATG ATG ATG ATG TARGET-20-PARSHM-04A-01D TARGET-20-PARSHM-14A-01D 23098 17 26711434 26711436 16 AML diagnosis del MYBBP1A proteinDel T1075_Q1078del NM_001105538 20-PARTAL MYBBP1A DELETE Del Somatic -1 0.439 SQHIGH 10 23 33 0 57 57 Cosmic_Gene CTGCGCCTTGGT CTGCGCCTTGGT CTGCGCCTTGGT CTGCGCCTTGGT TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 10514 17 4444821 4444832 48 AML relapse ins CCND3 frameshift R271fs NM_001760 20-PARUBT CCND3 FRAMESHIFT Ins Somatic -8 0.234 SQHIGH 11 10 21 1 19 20 G TARGET-20-PARUBT-04A-01D TARGET-20-PARUBT-14A-02D 896 6 41903745 41903745 30 AML diagnosis ins MYLK-AS2 EXON E19_exon NM_053025 20-PARUBT MYLK INTRON Ins Somatic 5 0.953 SQHIGH 30 37 67 0 51 51 Cosmic_Gene CGTC TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 4638 3 123411151 123411151 90 AML diagnosis ins KIAA1109 frameshift L459fs NM_015312 20-PARUBT KIAA1109 FRAMESHIFT Ins Somatic PFAM:PF10229:DUF2246 -4 0.411 SQHIGH 8 27 35 0 34 34 Cosmic_Gene G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 84162 4 123120600 123120600 26 AML diagnosis del MYO10 frameshift S175fs NM_012334 20-PARUBT MYO10 FRAMESHIFT Del Somatic -1 0.430 SQHIGH 10 85 95 0 53 53 Cosmic_Gene T T T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 4651 5 16783521 16783521 20 AML diagnosis ins CCND3 frameshift R271fs NM_001760 20-PARUBT CCND3 FRAMESHIFT Ins Somatic -8 0.249 SQHIGH 15 13 28 1 19 20 G TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 896 6 41903745 41903745 35 AML diagnosis del LGI3 frameshift T407_Q408fs NM_139278 20-PARUBT LGI3 FRAMESHIFT Del Somatic -3 0.341 SQHIGH 18 57 75 2 43 45 Cosmic_Gene GG GG GG GG TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 203190 8 22006098 22006099 24 AML diagnosis del INSC frameshift F556fs NM_001031853 20-PARUBT INSC FRAMESHIFT Del Somatic -7 0.265 SQHIGH 7 18 25 0 16 16 Cosmic_Gene T T T T TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 387755 11 15267512 15267512 17 AML diagnosis ins BTBD18 frameshift K132fs NM_001145101 20-PARUBT TMX2-CTNND1|BTBD18 INTRON|FRAMESHIFT Ins Somatic -7 0.297 SQHIGH 22 73 95 3 56 59 A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 100528016|643376 11 57513348 57513348 27 AML diagnosis del ATF7IP frameshift D198fs NM_018179 20-PARUBT ATF7IP FRAMESHIFT Del Somatic -2 0.367 SQHIGH 9 84 93 0 47 47 Cosmic_Gene A A A A TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 55729 12 14577442 14577442 17 AML diagnosis ins CDX2 frameshift Q174fs NM_001265 20-PARUBT CDX2 FRAMESHIFT Ins Somatic PFAM:PF04731:Caudal_act -9 0.211 SQHIGH 7 18 25 0 15 15 Cosmic_Gene C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 1045 13 28542621 28542621 16 AML diagnosis ins PCNX frameshift L842fs NM_014982 20-PARUBT PCNX FRAMESHIFT Ins Somatic -2 0.511 SQHIGH 10 39 49 1 42 43 Cosmic_Gene C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 22990 14 71462536 71462536 21 AML diagnosis ins ZNF19 splice_region D92_E5splice_region NM_006961 20-PARUBT ZNF19 DONOR Ins Somatic 5 0.953 SQHIGH 19 41 60 1 50 51 C TARGET-20-PARUBT-09A-02D TARGET-20-PARUBT-14A-02D 7567 16 71512128 71512128 47 AML diagnosis ins LDLRAD2 frameshift W39fs NM_001013693 20-PARUNX LDLRAD2 FRAMESHIFT Ins Somatic -4 0.420 SQHIGH 4 7 11 1 21 22 T TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 401944 1 22140921 22140921 15 AML diagnosis ins DUSP10 frameshift R69fs NM_007207 20-PARUNX DUSP10 INTRON,FRAMESHIFT,TSS-UPSTREAM Ins Somatic -8 0.234 SQHIGH 13 50 63 0 32 32 Cosmic_Gene GCGG TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 11221 1 221912879 221912879 25 AML diagnosis ins YEATS2 frameshift Q1126fs NM_018023 20-PARUNX YEATS2 FRAMESHIFT Ins Somatic -7 0.282 SQHIGH 7 30 37 0 34 34 Cosmic_Gene C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 55689 3 183518303 183518303 21 AML diagnosis ins SACS frameshift K955fs NM_014363 20-PARUNX SACS FRAMESHIFT Ins Somatic -5 0.375 SQHIGH 6 22 28 0 26 26 Cosmic_Gene C TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 26278 13 23915150 23915150 18 AML diagnosis ins MLYCD frameshift G150fs NM_012213 20-PARUNX MLYCD FRAMESHIFT Ins Somatic PFAM:PF05292:MCD -8 0.234 SQHIGH 6 13 19 1 20 21 A TARGET-20-PARUNX-09A-01D TARGET-20-PARUNX-14A-02D 23417 16 83933199 83933199 15 AML relapse ins PGBD3 frameshift K394fs NM_170753 20-PARUTH ERCC6|PGBD3 INTRON|FRAMESHIFT Ins Somatic -6 0.428 SQHIGH 5 35 40 0 31 31 Cosmic_Gene T TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 2074|267004 10 50723978 50723978 13 AML relapse ins CBFB proteinIns D87>GDSY NM_022845 20-PARUTH CBFB INSERT+ Ins Somatic PFAM:PF02312:CBF_beta -6 0.428 SQHIGH 17 18 35 0 59 59 Cosmic_Gene GGGACTCCT TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 865 16 67070635 67070635 87 AML relapse del TRIOBP frameshift T873fs NM_001039141 20-PARUTH TRIOBP FRAMESHIFT Del Somatic -1 0.500 SQHIGH 6 49 56 0 69 69 Cosmic_Gene C C C C TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 11078 22 38121181 38121181 22 AML diagnosis ins EZH2 frameshift I739fs NM_001203247 20-PARUUB EZH2 FRAMESHIFT Ins Somatic -5 0.363 SQHIGH 10 25 35 1 53 54 Cosmic_Gene T TARGET-20-PARUUB-09A-02D TARGET-20-PARUUB-14A-01D 2146 7 148504762 148504762 35 AML diagnosis del MYO7B frameshift G1922fs NM_001080527 20-PARUWX MYO7B FRAMESHIFT Del Somatic PFAM:PF00373:FERM_M 3 0.706 SQHIGH 24 28 52 2 76 78 Cosmic_Gene G G G G TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 4648 2 128393318 128393318 91 AML diagnosis ins PRICKLE2-AS1 EXON E8_exon NM_198859 20-PARUWX LOC100652759|PRICKLE2 UTR|UTR3 Ins Somatic -3 0.445 SQHIGH 5 25 30 1 49 50 Cosmic_Gene A TARGET-20-PARUWX-09A-01D TARGET-20-PARUWX-14A-01D 100652759|166336 3 64084535 64084535 16 AML diagnosis del ZNF112 frameshift S171fs NM_001083335 20-PARVAI ZNF112 FRAMESHIFT Del Somatic -3 0.367 SQHIGH 6 41 47 0 36 36 Cosmic_Gene T T T T TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 7771 19 44833817 44833817 15 AML diagnosis del PDE5A frameshift K287fs NM_001083 20-PARWDZ PDE5A FRAMESHIFT Del Somatic PFAM:PF01590:GAF 0 0.487 SQHIGH 14 22 36 0 44 44 T T T T TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 8654 4 120488271 120488271 56 AML diagnosis ins NIPAL4 splice_region G75_E1splice_region NM_001099287 20-PARWDZ NIPAL4 DONOR Ins Somatic -4 0.395 SQHIGH 8 11 19 2 20 22 CGTA TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 348938 5 156887368 156887368 18 AML diagnosis del C16orf95 frameshift W184fs NM_001195124 20-PARWDZ C16orf95 FRAMESHIFT Del Somatic -6 0.295 SQHIGH 4 32 36 0 41 41 C C C C TARGET-20-PARWDZ-09A-03D TARGET-20-PARWDZ-14A-01D 100506581 16 87339474 87339474 14 AML diagnosis ins PUSL1 splice_region R215_E6splice_region NM_153339 20-PARXMP PUSL1|ACAP3 ACCEPTOR|TSS-UPSTREAM Ins Somatic -5 0.351 SQHIGH 7 28 35 1 41 42 Cosmic_Gene C TARGET-20-PARXMP-09A-01D TARGET-20-PARXMP-14A-03D 126789|116983 1 1246009 1246009 18 AML diagnosis ins CXCL11 frameshift N95fs NM_001302123 20-PARXMP CXCL11|ART3 UTR3|INTRON Ins Somatic -7 0.269 SQHIGH 4 29 33 0 36 37 Cosmic_Gene T TARGET-20-PARXMP-09A-01D TARGET-20-PARXMP-14A-03D 6373|419 4 76955942 76955942 13 AML diagnosis del ARVCF frameshift G52_G53fs NM_001670 20-PARXMP ARVCF FRAMESHIFT Del Somatic -1 0.447 SQHIGH 7 25 32 0 28 28 Cosmic_Gene CA CA CA CA TARGET-20-PARXMP-09A-01D TARGET-20-PARXMP-14A-03D 421 22 19978161 19978162 21 AML diagnosis ins IKZF1 frameshift K136fs NM_006060 20-PARXNG IKZF1 INTRON,FRAMESHIFT Ins Somatic 4 0.879 SQHIGH 11 18 29 0 53 53 Cosmic_Gene G TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 10320 7 50444478 50444478 56 AML diagnosis ins CEBPA proteinIns K313>KK NM_004364 20-PARXNG LOC80054|CEBPA TSS-UPSTREAM|INSERT Ins Somatic PFAM:PF00170:bZIP_1 -9 0.203 SQHIGH 12 7 19 0 18 18 COSMIC:mut:18099,COSMIC:mut:18447 Cosmic_Gene CTT TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 80054|1050 19 33792381 33792381 46 AML diagnosis del UBAP2L proteinDel T909_S910>T NM_014847 20-PARYFN UBAP2L DELETE Del Somatic -10 0.234 SQHIGH 4 25 29 0 32 32 Cosmic_Gene CAG CAG CAG CAG TARGET-20-PARYFN-03A-01D TARGET-20-PARYFN-14A-01D 9898 1 154233516 154233518 13 AML diagnosis del FKRP frameshift A455_G456fs NM_024301 20-PARYGA FKRP FRAMESHIFT Del Somatic PFAM:PF04991:LicD -5 0.349 SQHIGH 7 6 13 0 19 19 Cosmic_Gene GCCG GCCG GCCG GCCG TARGET-20-PARYGA-09A-04D TARGET-20-PARYGA-14A-02D 79147 19 47260070 47260073 33 AML relapse ins PIKFYVE frameshift K944fs NM_015040 20-PARYVW PIKFYVE FRAMESHIFT Ins Somatic -5 0.384 SQHIGH 10 44 60 3 60 67 Cosmic_Gene A TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 200576 2 209190364 209190364 17 AML relapse ins PTMA frameshift E93fs NM_001099285 20-PARYVW PTMA|MIR1244-1 FRAMESHIFT|TSS-UPSTREAM Ins Somatic 4 0.917 SQHIGH 27 29 56 0 40 40 TC TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 5757|100302285 2 232577215 232577215 79 AML relapse ins SLC25A53 proteinIns T223>TR NM_001012755 20-PARYVW MCART6 INSERT Ins Somatic 2 0.798 SQHIGH 30 52 82 0 87 87 ACG TARGET-20-PARYVW-04A-02D TARGET-20-PARYVW-14A-01D 401612 X 103349271 103349271 109 AML diagnosis ins SH3TC1 frameshift R1294fs NM_018986 20-PARZUU SH3TC1 NONSENSE Ins Somatic -8 0.178 SQHIGH 22 22 44 1 25 26 Cosmic_Gene T TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 54436 4 8242552 8242552 Somatic Illumina 45 13273 11365 24699 23211 117 23390 AML diagnosis del LITAF splice_region G126_E3splice_region NM_004862 20-PARZUU LITAF DONOR Del Somatic -1 0.377 SQHIGH 5 32 37 0 26 26 Cosmic_Gene C C C C TARGET-20-PARZUU-09A-01D TARGET-20-PARZUU-14A-01D 9516 16 11647384 11647384 TumorFP Illumina 12 56439 0 56448 55240 0 55259 AML diagnosis ins TBC1D13 frameshift L325fs NM_018201 20-PASAUT TBC1D13 FRAMESHIFT Ins Somatic PFAM:PF00566:TBC -9 0.250 SQHIGH 4 19 23 0 24 24 G TARGET-20-PASAUT-03A-01D TARGET-20-PASAUT-14A-01D 54662 9 131568193 131568193 13 AML diagnosis del RTEL1 proteinDel V1253_P1254>A NM_001283009 20-PASAUT RTEL1|TNFRSF6B|RTEL1-TNFRSF6B INTRON|TSS-UPSTREAM|UTR Del Somatic -5 0.357 SQHIGH 7 33 40 0 35 35 Cosmic_Gene TGC TGC TGC TGC TARGET-20-PASAUT-03A-01D TARGET-20-PASAUT-14A-01D 51750|8771|100533107 20 62326939 62326941 20 AML relapse del SUMF1 frameshift L21_L25fs NM_182760 20-PASBBE SUMF1 FRAMESHIFT Del Somatic -4 0.339 SQHIGH 11 22 33 0 25 25 Cosmic_Gene AGCAGCAGCAGCA AGCAGCAGCAGCA AGCAGCAGCAGCA AGCAGCAGCAGCA TARGET-20-PASBBE-04A-02D TARGET-20-PASBBE-14A-01D 285362 3 4508856 4508868 31 AML relapse ins MSH3 frameshift E251fs NM_002439 20-PASBBE MSH3 FRAMESHIFT Ins Somatic PFAM:PF01624:MutS_I 0 0.712 SQHIGH 4 20 24 0 28 28 Cosmic_Gene T TARGET-20-PASBBE-04A-02D TARGET-20-PASBBE-14A-01D 4437 5 79966088 79966088 14 AML relapse ins CEBPA proteinIns V314>VV NM_004364 20-PASBBE LOC80054|CEBPA TSS-UPSTREAM|INSERT Ins Somatic PFAM:PF00170:bZIP_1 -8 0.255 SQHIGH 7 24 31 0 14 14 Cosmic_Gene CAC TARGET-20-PASBBE-04A-02D TARGET-20-PASBBE-14A-01D 80054|1050 19 33792378 33792378 12 AML diagnosis ins USP53 frameshift G543fs NM_019050 20-PASBBE USP53 NONSENSE Ins Somatic -5 0.484 SQHIGH 6 28 34 0 26 26 Cosmic_Gene AT TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 54532 4 120192643 120192643 16 AML diagnosis ins BDP1 frameshift A2101fs NM_018429 20-PASBBE BDP1 NONSENSE Ins Somatic -5 0.484 SQHIGH 4 18 22 0 33 33 Cosmic_Gene A TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 55814 5 70837982 70837982 17 AML diagnosis del MIR1322 EXON E5_exon NM_017884 20-PASBBE PINX1|MIR1322 INTRON|UTR Del Somatic 0 0.531 SQHIGH 14 29 43 2 42 44 Cosmic_Gene AC AC AC AC TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 54984|100302166 8 10682919 10682920 hsa-mir-1322:MI0006653 32 AML diagnosis ins CEBPA proteinIns V314>VV NM_004364 20-PASBBE LOC80054|CEBPA TSS-UPSTREAM|INSERT Ins Somatic PFAM:PF00170:bZIP_1 -8 0.312 SQHIGH 15 13 28 0 14 14 Cosmic_Gene CAC TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 80054|1050 19 33792378 33792378 34 AML diagnosis ins LAMA5 frameshift N351fs NM_005560 20-PASBBE LAMA5 FRAMESHIFT Ins Somatic -6 0.433 SQHIGH 6 28 34 1 39 40 Cosmic_Gene C TARGET-20-PASBBE-09A-01D TARGET-20-PASBBE-14A-01D 3911 20 60921987 60921987 15 AML diagnosis ins ATP13A2 frameshift V465fs NM_022089 20-PASBHI ATP13A2 FRAMESHIFT Ins Somatic PFAM:PF00122:E1-E2_ATPase 2 0.761 SQHIGH 6 22 28 1 34 35 Cosmic_Gene G TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 23400 1 17322618 17322618 16 AML diagnosis ins GREB1 frameshift L189fs NM_014668 20-PASBHI GREB1 NONSENSE Ins Somatic -6 0.358 SQHIGH 11 40 51 0 53 53 Cosmic_Gene T TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 9687 2 11716591 11716591 37 AML diagnosis del LLGL2 frameshift Q540_V542fs NM_004524 20-PASBHI LLGL2 FRAMESHIFT Del Somatic -4 0.310 SQHIGH 6 15 21 0 20 20 Cosmic_Gene AGGCTGT AGGCTGT AGGCTGT AGGCTGT TARGET-20-PASBHI-09A-01D TARGET-20-PASBHI-14A-01D 3993 17 73566081 73566087 19 AML diagnosis ins IFI27 frameshift V18fs NM_001288954 20-PASBPK IFI27 FRAMESHIFT Ins Somatic -10 0.137 SQHIGH 7 17 24 0 20 20 CC TARGET-20-PASBPK-09A-01D TARGET-20-PASBPK-14A-01D 3429 14 94578080 94578080 20 AML diagnosis ins NPM1 frameshift L287fs NM_002520 20-PASCCS NPM1 FRAMESHIFT Ins Somatic -8 0.260 SQHIGH 21 20 41 0 16 16 COSMIC:mut:17559 Cosmic_Gene TCTG TARGET-20-PASCCS-09A-01D TARGET-20-PASCCS-14A-01D 4869 5 170837543 170837543 39 AML diagnosis del IRF7 frameshift A387fs NM_001572 20-PASCCS IRF7 FRAMESHIFT Del Somatic PFAM:PF10401:IRF-3 -10 0.212 SQHIGH 4 10 14 0 19 19 C C C C TARGET-20-PASCCS-09A-01D TARGET-20-PASCCS-14A-01D 3665 11 613284 613284 16 AML diagnosis ins SLC15A5 frameshift L484fs NM_001170798 20-PASCGR SLC15A5 FRAMESHIFT Ins Somatic -2 0.496 SQHIGH 4 15 19 0 23 23 T TARGET-20-PASCGR-03A-01D TARGET-20-PASCGR-14A-02D 729025 12 16369859 16369859 15 AML relapse ins PTPRO splice_region R594_E10splice_region NM_030667 20-PASCGR PTPRO ACCEPTOR Ins Somatic -8 0.223 SQHIGH 10 20 30 0 21 21 Cosmic_Gene G TARGET-20-PASCGR-04A-02D TARGET-20-PASCGR-14A-02D 5800 12 15673125 15673125 26 AML diagnosis ins CNTRL frameshift R1027fs NM_007018 20-PASCRZ CNTRL FRAMESHIFT Ins Somatic -3 0.426 SQHIGH 4 12 16 0 26 26 Cosmic_Gene C TARGET-20-PASCRZ-03A-01D TARGET-20-PASCRZ-14A-02D 11064 9 123907148 123907148 18 AML relapse ins MLLT6 frameshift Q976fs NM_005937 20-PASCRZ MLLT6 FRAMESHIFT Ins Somatic -5 0.327 SQHIGH 5 9 14 2 31 33 Cosmic_Gene T TARGET-20-PASCRZ-04A-02D TARGET-20-PASCRZ-14A-02D 4302 17 36880915 36880915 17 AML relapse ins NOP14 frameshift F165fs NM_003703 20-PASFEW NOP14 FRAMESHIFT Ins Somatic PFAM:PF04147:Nop14 -10 0.181 SQHIGH 6 36 42 0 34 34 Cosmic_Gene C TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 8602 4 2956268 2956268 16 AML relapse del MIR1322 EXON E5_exon NM_017884 20-PASFEW PINX1|MIR1322 INTRON|UTR Del Somatic 2 0.701 SQHIGH 17 25 42 1 39 40 Cosmic_Gene AC AC AC AC TARGET-20-PASFEW-04A-02D TARGET-20-PASFEW-14A-01D 54984|100302166 8 10682919 10682920 hsa-mir-1322:MI0006653 47 AML diagnosis del MIR1322 EXON E5_exon NM_017884 20-PASFEW PINX1|MIR1322 INTRON|UTR Del Somatic 2 0.704 SQHIGH 11 31 42 1 39 40 Cosmic_Gene AC AC AC AC TARGET-20-PASFEW-09A-02D TARGET-20-PASFEW-14A-01D 54984|100302166 8 10682919 10682920 hsa-mir-1322:MI0006653 27 AML diagnosis del FOCAD splice_region R96_E6splice_region NM_017794 20-PASFJB FOCAD DONOR Del Somatic 0 0.532 SQHIGH 24 24 48 3 52 55 Cosmic_Gene T T T T TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 54914 9 20720538 20720538 67 AML diagnosis ins KCNQ1OT1 EXON E10_exon NM_000218 20-PASGCE KCNQ1 INTRON Ins Somatic -6 0.349 SQHIGH 6 41 47 0 35 35 Cosmic_Gene T TARGET-20-PASGCE-09A-01D TARGET-20-PASGCE-14A-01D 3784 11 2654535 2654535 15 AML relapse del SETD2 frameshift I649fs NM_014159 20-PASGCE SETD2 NONSENSE Del Somatic -1 0.498 SQHIGH 14 52 66 1 60 61 Cosmic_Gene AT AT AT AT TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 29072 3 47164180 47164181 34 AML diagnosis del SERINC2 frameshift L48fs NM_178865 20-PASGGK SERINC2 FRAMESHIFT,UTR5 Del Somatic PFAM:PF03348:Serinc -4 0.373 SQHIGH 38 62 100 3 47 50 G G G G TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 347735 1 31896644 31896644 50 AML diagnosis del PDE4DIP splice G1694_E31splice NM_014644 20-PASGGK PDE4DIP DISRUPT Del Somatic 1 0.707 SQHIGH 17 61 78 3 75 78 Cosmic_Gene C C C C TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 9659 1 144873876 144873876 32 AML diagnosis del DUSP6 frameshift C39fs NM_001946 20-PASGGK DUSP6 FRAMESHIFT Del Somatic -8 0.282 SQHIGH 7 12 19 1 23 24 C C C C TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 1848 12 89745701 89745701 21 AML diagnosis del NONO proteinDel P199_K203>Q NM_001145408 20-PASGGK NONO DELETE+ Del Somatic -2 0.482 SQHIGH 21 46 67 0 73 73 Cosmic_Gene CAGCTGCTCGGA CAGCTGCTCGGA CAGCTGCTCGGA CAGCTGCTCGGA TARGET-20-PASGGK-09A-03D TARGET-20-PASGGK-14A-01D 4841 X 70514324 70514335 76 AML diagnosis ins C1orf116 frameshift P396fs NM_023938 20-PASGWH C1orf116 FRAMESHIFT Ins Somatic -5 0.363 SQHIGH 5 25 30 0 27 27 Cosmic_Gene CA TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 79098 1 207195922 207195922 15 AML diagnosis del CYP26A1 frameshift C170fs NM_000783 20-PASGWH CYP26A1 FRAMESHIFT Del Somatic PFAM:PF00067:p450 -5 0.283 SQHIGH 6 12 18 0 21 21 Cosmic_Gene T T T T TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 1592 10 94834629 94834629 22 AML diagnosis ins BTBD18 frameshift K132fs NM_001145101 20-PASGWH TMX2-CTNND1|BTBD18 INTRON|FRAMESHIFT Ins Somatic -1 0.536 SQHIGH 8 41 49 1 46 47 A TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 100528016|643376 11 57513348 57513348 17 AML diagnosis ins INTS2 frameshift C48fs NM_020748 20-PASGWH INTS2 FRAMESHIFT,UTR Ins Somatic -10 0.222 SQHIGH 11 18 29 2 41 43 Cosmic_Gene AGGGCAGA TARGET-20-PASGWH-09A-03D TARGET-20-PASGWH-14A-02D 57508 17 60003887 60003887 33 AML diagnosis ins FXN splice S56_E2splice NM_000144 20-PASHBI FXN ACCEPTOR Ins Somatic 0 0.663 SQHIGH 22 33 55 0 39 39 CGGGGGGGGGGGAG TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 2395 9 71661298 71661298 61 AML diagnosis del OR51B5 frameshift L73fs NM_001005567 20-PASHBI OR51B5 INTRON,NONSENSE Del Somatic PFAM:PF00001:7tm_1 4 0.886 SQHIGH 15 33 48 2 44 46 Cosmic_Gene G G G G TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 282763 11 5364538 5364538 32 AML diagnosis ins CBL frameshift L500fs NM_005188 20-PASHBI CBL FRAMESHIFT Ins Somatic -5 0.401 SQHIGH 24 16 40 0 41 41 Cosmic_Gene TGACCTGG TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 867 11 119155746 119155746 96 AML diagnosis del NUMA1 frameshift M1439fs NM_006185 20-PASHHH NUMA1 FRAMESHIFT Del Somatic -10 0.252 SQHIGH 6 12 18 2 31 33 Cosmic_Gene A A A A TARGET-20-PASHHH-09A-01D TARGET-20-PASHHH-14A-02D 4926 11 71724233 71724233 18 AML relapse ins HHLA2 frameshift I282fs NM_007072 20-PASHYZ HHLA2 FRAMESHIFT Ins Somatic PFAM:PF00047:ig PFAM:PF07686:V-set 0 0.619 SQHIGH 12 35 47 2 50 52 Cosmic_Gene T TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 11148 3 108076849 108076849 27 AML diagnosis ins ASXL2 frameshift S524fs NM_018263 20-PASHYZ ASXL2 FRAMESHIFT Ins Somatic 4 0.906 SQHIGH 10 35 45 0 45 45 Cosmic_Gene GG TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 55252 2 25972853 25972853 33 AML diagnosis ins IKZF1 frameshift E77fs NM_006060 20-PASIBG IKZF1 INTRON,FRAMESHIFT Ins Somatic 0 0.597 SQHIGH 21 30 51 1 67 68 Cosmic_Gene A TARGET-20-PASIBG-09A-01D TARGET-20-PASIBG-14A-01D 10320 7 50444299 50444299 Somatic Illumina 78 16055 9850 25910 29836 0 29859 AML diagnosis ins TFF1 frameshift R36fs NM_003225 20-PASIBG TFF1 FRAMESHIFT Ins Somatic -1 0.531 SQHIGH 13 17 30 1 36 37 G TARGET-20-PASIBG-09A-01D TARGET-20-PASIBG-14A-01D 7031 21 43783495 43783495 Somatic Illumina 43 24645 15042 40498 44846 304 45381 AML diagnosis ins UBTF proteinIns N446>ISKQARMWN NM_014233 20-PASIEJ UBTF INSERT Ins Somatic PFAM:PF00505:HMG_box -6 0.326 SQHIGH 27 23 50 3 35 38 TCCACATTCGGGCCTGCTTGGAGA TARGET-20-PASIEJ-09A-02D TARGET-20-PASIEJ-14A-02D 7343 17 42288182 42288182 55 AML diagnosis ins CEBPA proteinIns K313>KK NM_004364 20-PASIEP LOC80054|CEBPA TSS-UPSTREAM|INSERT Ins Somatic PFAM:PF00170:bZIP_1 -8 0.254 SQHIGH 11 7 18 0 15 15 COSMIC:mut:18099,COSMIC:mut:18447 Cosmic_Gene CTT TARGET-20-PASIEP-09A-05D TARGET-20-PASIEP-14A-01D 80054|1050 19 33792381 33792381 38 AML relapse del BTBD3 frameshift A96fs NM_014962 20-PASINN BTBD3 FRAMESHIFT Del Somatic -10 0.250 SQHIGH 6 16 22 1 33 34 Cosmic_Gene C C C C TARGET-20-PASINN-04A-02D TARGET-20-PASINN-14A-01D 22903 20 11899210 11899210 19 AML diagnosis ins KIAA0907 frameshift V62fs NM_014949 20-PASINN KIAA0907 FRAMESHIFT Ins Somatic -2 0.495 SQHIGH 10 25 35 0 34 34 A TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 22889 1 155903492 155903492 33 AML diagnosis ins TNK1 frameshift L253fs NM_003985 20-PASINN TNK1 FRAMESHIFT Ins Somatic PFAM:PF03109:ABC1 -7 0.264 SQHIGH 14 35 49 0 21 21 Cosmic_Gene T TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 8711 17 7287465 7287465 25 AML diagnosis del RUNDC1 frameshift S312fs NM_173079 20-PASINN RUNDC1 FRAMESHIFT Del Somatic -8 0.278 SQHIGH 6 35 41 0 27 27 C C C C TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 146923 17 41142413 41142413 14 AML diagnosis del ABCA9 proteinDel K858_K859>K NM_080283 20-PASINN ABCA9 DELETE Del Somatic -3 0.364 SQHIGH 5 14 19 0 32 32 Cosmic_Gene TTC TTC TTC TTC TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 10350 17 67016553 67016555 23 AML diagnosis del CCDC80 frameshift D44fs NM_199511 20-PASJGZ CCDC80 FRAMESHIFT Del Somatic 1 0.625 SQHIGH 7 31 38 0 37 37 Cosmic_Gene G G G G TARGET-20-PASJGZ-09A-02D TARGET-20-PASJGZ-14A-01D 151887 3 112358621 112358621 22 AML diagnosis del MAGEA11 frameshift E24fs NM_005366 20-PASJGZ MAGEA11 FRAMESHIFT,INTRON Del Somatic -2 0.396 SQHIGH 6 60 66 0 51 51 Cosmic_Gene G G G G TARGET-20-PASJGZ-09A-02D TARGET-20-PASJGZ-14A-01D 4110 X 148794891 148794891 15 AML diagnosis ins MAGEA11 frameshift S26fs NM_005366 20-PASJGZ MAGEA11 FRAMESHIFT,INTRON Ins Somatic -9 0.195 SQHIGH 6 61 67 0 57 57 Cosmic_Gene A TARGET-20-PASJGZ-09A-02D TARGET-20-PASJGZ-14A-01D 4110 X 148794895 148794895 17 AML relapse ins GBP3 frameshift I509fs NM_018284 20-PASJIM GBP3 FRAMESHIFT Ins Somatic PFAM:PF02841:GBP_C -10 0.188 SQHIGH 4 45 49 0 59 59 Cosmic_Gene C TARGET-20-PASJIM-04A-01D TARGET-20-PASJIM-10A-02D 2635 1 89474762 89474762 14 AML relapse ins MYO9A frameshift R1115fs NM_006901 20-PASJIM MYO9A FRAMESHIFT Ins Somatic -4 0.393 SQHIGH 4 13 17 0 24 24 Cosmic_Gene A TARGET-20-PASJIM-04A-01D TARGET-20-PASJIM-10A-02D 4649 15 72192154 72192154 16 AML diagnosis del CNTN6 frameshift K416fs NM_014461 20-PASLSD CNTN6 FRAMESHIFT Del Somatic -4 0.359 SQHIGH 11 10 21 1 22 23 Cosmic_Gene A A A A TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 27255 3 1371501 1371501 34 AML diagnosis del PTPRR frameshift F7_L13fs NM_002849 20-PASLSD PTPRR FRAMESHIFT Del Somatic -1 0.498 SQHIGH 7 22 29 0 37 37 Cosmic_Gene AGCAGGCACAGCGCAGGGA AGCAGGCACAGCGCAGGGA AGCAGGCACAGCGCAGGGA AGCAGGCACAGCGCAGGGA TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 5801 12 71314133 71314151 27 AML relapse ins ALX4 frameshift S79fs NM_021926 20-PASLSD ALX4 FRAMESHIFT Ins Somatic -3 0.586 SQHIGH 7 24 31 0 23 23 G TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 60529 11 44331376 44331376 18 AML relapse ins ADAMTS10 proteinIns N506>KSN NM_030957 20-PASLSD ADAMTS10 INSERT Ins Somatic -9 0.268 SQHIGH 7 41 48 0 56 56 Cosmic_Gene TTGCTC TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 81794 19 8657716 8657716 25 AML diagnosis ins PITX1 frameshift T97fs NM_002653 20-PASMGW PITX1 FRAMESHIFT Ins Somatic -2 0.513 SQHIGH 4 34 38 0 48 48 Cosmic_Gene C TARGET-20-PASMGW-09A-01D TARGET-20-PASMGW-14A-01D 5307 5 134367076 134367076 15 AML diagnosis del NLRP8 frameshift V590fs NM_176811 20-PASMGW NLRP8 FRAMESHIFT Del Somatic -6 0.260 SQHIGH 7 47 54 0 53 53 Cosmic_Gene T T T T TARGET-20-PASMGW-09A-01D TARGET-20-PASMGW-14A-01D 126205 19 56467193 56467193 22 AML relapse ins CEP41 frameshift V142fs NM_018718 20-PASMGW CEP41 FRAMESHIFT Ins Somatic -2 0.518 SQHIGH 8 30 38 1 53 54 A TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 95681 7 130042637 130042637 25 AML relapse ins FAM89B frameshift S140fs NM_001098785 20-PASMYS LOC254100|FAM89B|EHBP1L1 TSS-UPSTREAM|FRAMESHIFT|TSS-UPSTREAM Ins Somatic -3 0.579 SQHIGH 38 58 96 1 89 90 Cosmic_Gene T TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 254100|23625|254102 11 65340961 65340961 115 AML diagnosis ins FAM89B frameshift S140fs NM_001098785 20-PASMYS LOC254100|FAM89B|EHBP1L1 TSS-UPSTREAM|FRAMESHIFT|TSS-UPSTREAM Ins Somatic -3 0.576 SQHIGH 32 43 75 1 89 90 Cosmic_Gene T TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 254100|23625|254102 11 65340961 65340961 116 AML diagnosis ins NPM1 frameshift L287fs NM_002520 20-PASPGA NPM1 FRAMESHIFT Ins Somatic -1 0.630 SQHIGH 12 19 31 0 32 32 COSMIC:mut:17559 Cosmic_Gene TCTG TARGET-20-PASPGA-09A-05D TARGET-20-PASPGA-14A-01D 4869 5 170837543 170837543 43 AML diagnosis del KIAA1244 frameshift G917fs NM_020340 20-PASPKE KIAA1244 FRAMESHIFT Del Somatic -9 0.278 SQHIGH 4 22 26 0 34 34 Cosmic_Gene G G G G TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 57221 6 138608017 138608017 15 AML diagnosis del TANGO6 frameshift T241fs NM_024562 20-PASPKE TANGO6 FRAMESHIFT Del Somatic -9 0.278 SQHIGH 5 43 48 0 37 37 C C C C TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 79613 16 68894414 68894414 13 AML relapse ins HRASLS2 frameshift P8fs NM_017878 20-PASPLU HRASLS2 FRAMESHIFT Ins Somatic -7 0.309 SQHIGH 26 37 63 1 59 60 GGGTGGTT TARGET-20-PASPLU-04A-01D TARGET-20-PASPLU-14A-01D 54979 11 63327651 63327651 77 AML diagnosis ins HRASLS2 frameshift P8fs NM_017878 20-PASPLU HRASLS2 FRAMESHIFT Ins Somatic -7 0.288 SQHIGH 41 53 94 1 59 60 GGGTGGTT TARGET-20-PASPLU-09A-02D TARGET-20-PASPLU-14A-01D 54979 11 63327651 63327651 94 AML diagnosis del ASXL2 frameshift K444_E445fs NM_018263 20-PASPTM ASXL2 NONSENSE Del Somatic 4 0.847 SQHIGH 25 37 62 0 56 56 Cosmic_Gene TTCTT TTCTT TTCTT TTCTT TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 55252 2 25973090 25973094 82 AML diagnosis ins AFF3 splice_region K347_E10splice_region NM_002285 20-PASPTM AFF3 ACCEPTOR Ins Somatic -3 0.448 SQHIGH 5 40 45 0 34 34 Cosmic_Gene T TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 3899 2 100343600 100343600 13 AML diagnosis del LRRC31 frameshift M224fs NM_024727 20-PASPTM LRRC31 FRAMESHIFT Del Somatic 0 0.479 SQHIGH 5 21 26 0 36 36 Cosmic_Gene A A A A TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 79782 3 169574276 169574276 20 AML diagnosis ins YEATS2 frameshift Q1126fs NM_018023 20-PASPTM YEATS2 FRAMESHIFT Ins Somatic -4 0.404 SQHIGH 9 44 53 0 39 39 Cosmic_Gene C TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 55689 3 183518303 183518303 23 AML diagnosis ins C9orf41 frameshift E302fs NM_152420 20-PASPTM C9orf41 FRAMESHIFT Ins Somatic PFAM:PF07942:N2227 -6 0.321 SQHIGH 3 14 17 0 28 28 Cosmic_Gene A TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 138199 9 77613519 77613519 13 AML diagnosis del GRB7 frameshift A399_A401fs NM_005310 20-PASPTM GRB7 FRAMESHIFT Del Somatic PFAM:PF08947:BPS -4 0.311 SQHIGH 8 26 34 1 33 34 Cosmic_Gene CCAGG CCAGG CCAGG CCAGG TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 2886 17 37901779 37901783 19 AML diagnosis del HECTD4 frameshift N2635fs NM_001109662 20-PASRLS HECTD4 FRAMESHIFT Del Somatic -6 0.329 SQHIGH 4 16 20 0 22 22 Cosmic_Gene T T T T TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 283450 12 112641540 112641540 14 AML diagnosis ins LLGL1 frameshift A194fs NM_004140 20-PASRLS LLGL1 FRAMESHIFT Ins Somatic -1 0.598 SQHIGH 6 51 57 0 52 52 Cosmic_Gene G TARGET-20-PASRLS-09A-01D TARGET-20-PASRLS-14A-01D 3996 17 18137356 18137356 17 AML diagnosis ins SPICE1 frameshift P501fs NM_144718 20-PASSSI SPICE1 FRAMESHIFT Ins Somatic 2 0.777 SQHIGH 4 28 32 0 45 45 Cosmic_Gene G TARGET-20-PASSSI-09A-01D TARGET-20-PASSSI-14A-01D 152185 3 113176137 113176137 16 AML diagnosis ins BAMBI frameshift I242fs NM_012342 20-PASSSI BAMBI FRAMESHIFT Ins Somatic 5 0.928 SQHIGH 19 19 38 2 38 40 Cosmic_Gene CT TARGET-20-PASSSI-09A-01D TARGET-20-PASSSI-14A-01D 25805 10 28971273 28971273 53 AML relapse ins BTRC frameshift I275fs NM_033637 20-PASVVS BTRC FRAMESHIFT Ins Somatic -6 0.322 SQHIGH 10 15 25 0 20 20 Cosmic_Gene T TARGET-20-PASVVS-04A-01D TARGET-20-PASVVS-14A-01D 8945 10 103291073 103291073 30 AML diagnosis del HHLA1 frameshift E419fs NM_001145095 20-PASVVS HHLA1 FRAMESHIFT Del Somatic -7 0.249 SQHIGH 4 16 20 0 21 21 T T T T TARGET-20-PASVVS-09A-01D TARGET-20-PASVVS-14A-01D 10086 8 133088361 133088361 13 AML diagnosis ins BTRC frameshift I275fs NM_033637 20-PASVVS BTRC FRAMESHIFT Ins Somatic -6 0.320 SQHIGH 16 20 36 0 20 20 Cosmic_Gene T TARGET-20-PASVVS-09A-01D TARGET-20-PASVVS-14A-01D 8945 10 103291073 103291073 38 AML diagnosis ins SLFN12L frameshift V320fs NM_001195790 20-PASVVS SLFN12L FRAMESHIFT Ins Somatic PFAM:PF04326:AAA_4 -6 0.320 SQHIGH 9 34 43 0 28 28 Cosmic_Gene TC TARGET-20-PASVVS-09A-01D TARGET-20-PASVVS-14A-01D 100506736 17 33806268 33806268 21 AML diagnosis ins DSC1 proteinIns D381>DQD NM_024421 20-PASVYA DSC1 INSERT Ins Somatic 1 0.688 SQHIGH 4 27 31 0 38 38 Cosmic_Gene ATCCTG TARGET-20-PASVYA-09A-01D TARGET-20-PASVYA-14A-01D 1823 18 28722078 28722078 14 AML relapse ins EPHA5 splice_region F563_E8splice_region NM_004439 20-PASVYL EPHA5 ACCEPTOR Ins Somatic -9 0.184 SQHIGH 5 16 21 0 29 29 Cosmic_Gene G TARGET-20-PASVYL-04A-02D TARGET-20-PASVYL-10A-02D 2044 4 66270202 66270202 20 AML diagnosis ins CCDC47 frameshift T309fs NM_020198 20-PASVYL CCDC47 FRAMESHIFT Ins Somatic PFAM:PF07946:DUF1682 6 0.989 SQHIGH 26 18 44 0 50 50 TGACT TARGET-20-PASVYL-09A-01D TARGET-20-PASVYL-10A-02D 57003 17 61833622 61833622 110 AML relapse ins GCLC frameshift I593fs NM_001498 20-PASWAJ GCLC FRAMESHIFT Ins Somatic PFAM:PF03074:GCS 1 0.773 SQHIGH 16 31 47 2 59 61 Cosmic_Gene A TARGET-20-PASWAJ-04A-01D TARGET-20-PASWAJ-14A-02D 2729 6 53363689 53363689 47 AML diagnosis ins GCLC frameshift I593fs NM_001498 20-PASWAJ GCLC FRAMESHIFT Ins Somatic PFAM:PF03074:GCS 2 0.822 SQHIGH 11 22 33 2 59 61 Cosmic_Gene A TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 2729 6 53363689 53363689 39 AML diagnosis ins RSPO2 splice_region A32_E3splice_region NM_178565 20-PASWAJ RSPO2 ACCEPTOR Ins Somatic -7 0.329 SQHIGH 5 11 16 1 27 28 Cosmic_Gene A TARGET-20-PASWAJ-09A-02D TARGET-20-PASWAJ-14A-02D 340419 8 109001481 109001481 17 AML relapse ins PHLDB1 frameshift K768fs NM_015157 20-PASWAT PHLDB1 FRAMESHIFT Ins Somatic 6 0.983 SQHIGH 5 33 38 0 39 39 G TARGET-20-PASWAT-04A-01D TARGET-20-PASWAT-14A-03D 23187 11 118502936 118502936 16 AML diagnosis ins KIAA0907 frameshift V62fs NM_014949 20-PASWAT KIAA0907 FRAMESHIFT Ins Somatic -4 0.436 SQHIGH 7 30 37 0 29 29 A TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 22889 1 155903492 155903492 19 AML relapse del ULK4 frameshift K593fs NM_017886 20-PASWLN ULK4 FRAMESHIFT Del dbsnp.131:rs76318575 Somatic -1 0.424 SQHIGH 6 19 25 0 16 16 T T T T TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 54986 3 41860985 41860985 14 AML relapse ins HTR3A frameshift P328fs NM_213621 20-PASWLN HTR3A FRAMESHIFT,INTRON Ins Somatic PFAM:PF02932:Neur_chan_memb -7 0.285 SQHIGH 8 43 51 1 50 51 A TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 3359 11 113857498 113857498 18 AML relapse ins DLK1 frameshift K286fs NM_003836 20-PASWLN DLK1 FRAMESHIFT Ins Somatic -7 0.285 SQHIGH 24 62 86 3 41 44 Cosmic_Gene A TARGET-20-PASWLN-04A-02D TARGET-20-PASWLN-14A-01D 8788 14 101200936 101200936 25 AML relapse del AVIL proteinDel W414_Y428del NM_006576 20-PASWPD AVIL DELETE Del Somatic PFAM:PF00626:Gelsolin 5 0.969 SQHIGH 21 150 171 0 225 225 Cosmic_Gene GTAGAGGACCAGATAACAGTCTCCCCCATAAAAGAAGCCATACCA GTAGAGGACCAGATAACAGTCTCCCCCATAAAAGAAGCCATACCA GTAGAGGACCAGATAACAGTCTCCCCCATAAAAGAAGCCATACCA GTAGAGGACCAGATAACAGTCTCCCCCATAAAAGAAGCCATACCA TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 10677 12 58201421 58201465 80 AML relapse del AVIL frameshift E411_Q413fs NM_006576 20-PASWPD AVIL FRAMESHIFT Del Somatic PFAM:PF00626:Gelsolin 5 0.969 SQHIGH 21 88 109 0 119 119 Cosmic_Gene GATACTC GATACTC GATACTC GATACTC TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 10677 12 58201468 58201474 72 AML diagnosis ins FAM114A1 frameshift I538fs NM_138389 20-PASWPD FAM114A1 FRAMESHIFT,UTR Ins Somatic -8 0.254 SQHIGH 6 18 24 1 24 25 Cosmic_Gene A TARGET-20-PASWPD-09A-01D TARGET-20-PASWPD-14A-02D 92689 4 38945097 38945097 14 AML diagnosis ins ZNF333 frameshift A171fs NM_032433 20-PASWPD ZNF333 SPAN3 Ins Somatic -7 0.303 SQHIGH 6 13 19 0 19 19 Cosmic_Gene GTGA TARGET-20-PASWPD-09A-01D TARGET-20-PASWPD-14A-02D 84449 19 14817585 14817585 20 AML diagnosis ins TADA1 frameshift T68fs NM_053053 20-PASXYG TADA1 FRAMESHIFT Ins Somatic PFAM:PF12767:SAGA-Tad1 -4 0.463 SQHIGH 18 18 36 0 34 34 Cosmic_Gene T TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 117143 1 166838711 166838711 64 AML diagnosis ins RCSD1 frameshift S193fs NM_052862 20-PASXYG RCSD1 FRAMESHIFT Ins Somatic -10 0.197 SQHIGH 4 22 26 0 28 28 Cosmic_Gene G TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 92241 1 167666438 167666438 13 AML diagnosis ins ASXL2 frameshift D398fs NM_018263 20-PASXYG ASXL2 FRAMESHIFT Ins Somatic -7 0.331 SQHIGH 25 23 48 0 46 46 Cosmic_Gene AAGTGAA TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 55252 2 25973230 25973230 91 AML diagnosis ins PITRM1 splice_region D336_E10splice_region NM_014889 20-PASXYG PITRM1 ACCEPTOR Ins Somatic -10 0.197 SQHIGH 7 15 22 2 28 30 Cosmic_Gene A TARGET-20-PASXYG-09A-05D TARGET-20-PASXYG-14A-02D 10531 10 3201242 3201242 16 AML relapse ins RASGRP4 frameshift S167fs NM_170604 20-PASYJI RASGRP4 FRAMESHIFT Ins Somatic -5 0.461 SQHIGH 11 47 58 0 38 38 Cosmic_Gene C TARGET-20-PASYJI-04A-01D TARGET-20-PASYJI-14A-02D 115727 19 38910780 38910780 26 AML diagnosis del PPP1R15B frameshift C339_R340fs NM_032833 20-PASYJI PPP1R15B FRAMESHIFT Del Somatic PFAM:PF10472:CReP_N -7 0.261 SQHIGH 3 26 29 0 58 58 Cosmic_Gene TCTG TCTG TCTG TCTG TARGET-20-PASYJI-09A-03D TARGET-20-PASYJI-14A-02D 84919 1 204379520 204379523 15 AML diagnosis ins DCTN1 frameshift L178fs NM_004082 20-PASZLJ DCTN1 FRAMESHIFT,UTR Ins Somatic -10 0.205 SQHIGH 3 12 15 0 28 28 Cosmic_Gene G TARGET-20-PASZLJ-09A-01D TARGET-20-PASZLJ-10A-01D 1639 2 74598774 74598774 14 AML relapse ins IL11RA frameshift S24fs NM_001142784 20-PASZZE IL11RA FRAMESHIFT Ins Somatic -6 0.404 SQHIGH 10 15 25 1 38 39 Cosmic_Gene C TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 3590 9 34655284 34655284 38 AML relapse ins MAPK7 frameshift G315fs NM_139033 20-PASZZE MAPK7 FRAMESHIFT Ins Somatic PFAM:PF03109:ABC1 -1 0.668 SQHIGH 7 25 32 3 52 55 Cosmic_Gene T TARGET-20-PASZZE-04A-01D TARGET-20-PASZZE-10A-01D 5598 17 19284465 19284465 16 AML diagnosis ins IL11RA frameshift S24fs NM_001142784 20-PASZZE IL11RA FRAMESHIFT Ins Somatic -4 0.507 SQHIGH 17 13 30 1 38 39 Cosmic_Gene C TARGET-20-PASZZE-09A-01D TARGET-20-PASZZE-10A-01D 3590 9 34655284 34655284 66 AML relapse ins CSMD2 frameshift D3463fs NM_052896 20-PATAST CSMD2 FRAMESHIFT Ins Somatic -2 0.653 SQHIGH 10 47 57 2 63 65 Cosmic_Gene CC TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 114784 1 33985193 33985193 21 AML relapse ins ZNF366 frameshift P433fs NM_152625 20-PATAST ZNF366 FRAMESHIFT Ins Somatic -7 0.370 SQHIGH 9 25 34 3 40 43 Cosmic_Gene GGCTG TARGET-20-PATAST-04A-01D TARGET-20-PATAST-10A-01D 167465 5 71756025 71756025 17 AML diagnosis ins KIF7 frameshift E526fs NM_198525 20-PATAST KIF7 FRAMESHIFT Ins Somatic -8 0.273 SQHIGH 5 23 28 0 33 33 Cosmic_Gene G TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 374654 15 90190272 90190272 18 AML relapse ins SETD2 frameshift E1899fs NM_014159 20-PATDNN SETD2 FRAMESHIFT Ins Somatic 1 0.795 SQHIGH 16 39 55 1 57 58 Cosmic_Gene G TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 29072 3 47125573 47125573 45 AML relapse ins ZWILCH frameshift T316fs NM_017975 20-PATDNN ZWILCH FRAMESHIFT,UTR Ins Somatic PFAM:PF09817:DUF2352 -9 0.222 SQHIGH 7 9 16 1 16 17 Cosmic_Gene A TARGET-20-PATDNN-04A-01D TARGET-20-PATDNN-10A-01D 55055 15 66820228 66820228 18 AML diagnosis ins SETD2 frameshift E1899fs NM_014159 20-PATDNN SETD2 FRAMESHIFT Ins Somatic 1 0.796 SQHIGH 16 34 50 1 57 58 Cosmic_Gene G TARGET-20-PATDNN-09A-01D TARGET-20-PATDNN-10A-01D 29072 3 47125573 47125573 50 AML diagnosis ins PCNX frameshift L842fs NM_014982 20-PATELT PCNX FRAMESHIFT Ins Somatic -7 0.317 SQHIGH 4 25 29 0 31 31 Cosmic_Gene C TARGET-20-PATELT-03A-02D TARGET-20-PATELT-14A-01D 22990 14 71462536 71462536 13 AML relapse ins BAI3 frameshift K143fs NM_001704 20-PATIAK LOC728052|BAI3 TSS-UPSTREAM|FRAMESHIFT Ins Somatic -7 0.327 SQHIGH 23 24 47 2 37 39 Cosmic_Gene A TARGET-20-PATIAK-04A-02D TARGET-20-PATIAK-14A-01D 728052|577 6 69348993 69348993 54 AML diagnosis ins FAM84A frameshift H199fs NM_145175 20-PATIAK FAM84A FRAMESHIFT Ins Somatic PFAM:PF04970:NC -10 0.177 SQHIGH 4 12 16 0 19 19 Cosmic_Gene G TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 151354 2 14774699 14774699 15 AML diagnosis ins BAI3 frameshift K143fs NM_001704 20-PATIAK LOC728052|BAI3 TSS-UPSTREAM|FRAMESHIFT Ins Somatic -7 0.327 SQHIGH 9 24 33 2 37 39 Cosmic_Gene A TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 728052|577 6 69348993 69348993 20 AML diagnosis del PLEKHJ1 proteinDel A106_S107>A NM_018049 20-PATIAK PLEKHJ1|MIR1227|SF3A2 DELETE|TSS-UPSTREAM|TSS-UPSTREAM Del Somatic -6 0.274 SQHIGH 8 27 35 0 28 28 CTG CTG CTG CTG TARGET-20-PATIAK-09A-01D TARGET-20-PATIAK-14A-01D 55111|100302283|8175 19 2234149 2234151 22 AML relapse del SPAG5 frameshift E801_T802fs NM_006461 20-PATJHJ SPAG5 FRAMESHIFT Del Somatic -3 0.351 SQHIGH 6 60 66 0 63 63 Cosmic_Gene GTCT GTCT GTCT GTCT TARGET-20-PATJHJ-40A-02D TARGET-20-PATJHJ-14A-01D 10615 17 26911175 26911178 18 AML diagnosis Del CREBBP frameshift H1804_K1811>Pfs NM_004380 20-PANGJY CREBBP FRAMESHIFT Del Somatic PFAM:PF02135:zf-TAZ 0 0.512 SQHIGH 11 28 39 0 39 39 Cosmic_Gene TTGCGTTTGCAGCCCTTGGTGT TTGCGTTTGCAGCCCTTGGTGT TGG TTGCGTTTGCAGCCCTTGGTGT TTGCGTTTGCAGCCCTTGGTGT TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 1387 16 3779616 3779631 37 AML diagnosis del CREBBP proteinDel H1804_T1805>P NM_004380 20-PANGJY CREBBP DELETE+ Del Somatic PFAM:PF02135:zf-TAZ -2 0.393 SQHIGH 10 18 28 0 27 27 Cosmic_Gene TGT TGT TGT TGT TARGET-20-PANGJY-09A-03D TARGET-20-PANGJY-14A-02D 1387 16 3779635 3779637 33 AML relapse ins CREBBP frameshift G587fs NM_004380 20-PARCVS CREBBP FRAMESHIFT Ins Somatic PFAM:PF02172:KIX -8 0.234 SQHIGH 9 21 30 1 19 20 Cosmic_Gene C TARGET-20-PARCVS-04A-01D TARGET-20-PARCVS-14A-01D 1387 16 3830795 3830795 15 AML diagnosis snv CREBBP silent P930P NM_004380 20-PARNIA CREBBP SYNONYMOUS SNP Somatic -9 0.035 SQHIGH 7 27 34 0 45 45 Cosmic_Gene A A G A A TARGET-20-PARNIA-09A-03D TARGET-20-PARNIA-14A-02D 1387 16 3820661 3820661 27 AML diagnosis del ETV6 frameshift G91_L95fs NM_001987 20-PANJGR ETV6 NONSENSE Del Somatic 0 0.457 SQHIGH 12 24 36 0 48 48 Cosmic_Gene GCAAAGCTCTCCT GCAAAGCTCTCCT GCAAAGCTCTCCT GCAAAGCTCTCCT TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 2120 12 11992182 11992194 50 AML diagnosis complex ETV6 frameshift F102_R103fs NM_001987 20-PANVGP ETV6 FRAMESHIFT Sub Somatic 4 0.928 SQHIGH 17 24 41 0 75 75 Cosmic_Gene TTCGC TTCGC CCTGGGCCT TTCGC TTCGC TARGET-20-PANVGP-09A-03D TARGET-20-PANVGP-14A-02D 2120 12 11992215 11992219 88 AML diagnosis snv ETV6 missense P214L NM_001987 20-PARIEG ETV6 MISSENSE SNP Somatic -10 0.045 SQHIGH 6 48 54 0 76 76 Cosmic_Gene C C T C C TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 2120 12 12022535 12022535 24 AML diagnosis del ETV6 frameshift G110fs NM_001987 20-PARIEG ETV6 SPAN3 Del Somatic 3 0.826 SQHIGH 23 45 68 0 99 99 Cosmic_Gene GGT GGT GGT GGT TARGET-20-PARIEG-09A-04D TARGET-20-PARIEG-14A-02D 2120 12 11992238 11992240 101 AML diagnosis del KIT proteinDel T417_D419>Y NM_000222 20-PAEFGR KIT DELETE Del Somatic -1 0.479 SQHIGH 17 35 52 0 53 53 Cosmic_Gene ACTTACG ACTTACG T ACTTACG ACTTACG TARGET-20-PAEFGR-09A-01D TARGET-20-PAEFGR-14A-01D 3815 4 55589766 55589773 59 AML diagnosis snv KIT missense N822K NM_000222 20-PALGKX KIT MISSENSE SNP dbsnp.133:rs121913514 Somatic 6 0.211 SQHIGH 11 14 25 0 18 18 Cosmic_Gene T T A T T TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 3815 4 55599340 55599340 31 AML diagnosis snv KIT missense D816V NM_000222 20-PAMYAS KIT MISSENSE SNP dbsnp.133:rs121913507 Somatic -6 0.07 SQHIGH 5 18 23 0 28 28 COSMIC:mut:1314 Cosmic_Gene A A T A A TARGET-20-PAMYAS-09A-02D TARGET-20-PAMYAS-14A-02D 3815 4 55599321 55599321 18 AML diagnosis snv KIT missense N822K NM_000222 20-PANHYK KIT MISSENSE SNP dbsnp.133:rs121913514 Somatic -2 0.1 SQHIGH 6 22 28 0 15 15 Cosmic_Gene T T A T T TARGET-20-PANHYK-09A-03D TARGET-20-PANHYK-14A-02D 3815 4 55599340 55599340 12 AML diagnosis del KIT proteinDel Y418_D419>Y NM_000222 20-PANJGR KIT DELETE Del Somatic 3 0.732 SQHIGH 13 40 53 0 55 55 COSMIC:mut:29014 Cosmic_Gene ACG ACG ACG ACG TARGET-20-PANJGR-09A-03D TARGET-20-PANJGR-14A-02D 3815 4 55589771 55589773 44 AML relapse complex KIT frameshift Y418_R420fs NM_000222 20-PANLIZ KIT FRAMESHIFT Sub Somatic -4 0.369 SQHIGH 32 35 67 0 73 73 Cosmic_Gene TACGACAGG TACGACAGG TCCCCCGT TACGACAGG TACGACAGG TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 3815 4 55589770 55589778 125 AML relapse del KIT frameshift T417fs NM_000222 20-PANLIZ KIT FRAMESHIFT Del Somatic -1 0.487 SQHIGH 27 30 57 0 57 57 Cosmic_Gene AC AC AC AC TARGET-20-PANLIZ-04A-02D TARGET-20-PANLIZ-14A-02D 3815 4 55589767 55589768 99 AML diagnosis snv KIT missense V560D NM_000222 20-PANPLS KIT MISSENSE SNP dbsnp.133:rs121913521 Somatic 6 0.195 SQHIGH 16 52 68 0 61 61 COSMIC:mut:1257 Cosmic_Gene T T A T T TARGET-20-PANPLS-03A-05D TARGET-20-PANPLS-14A-02D 3815 4 55593613 55593613 49 AML relapse complex KIT proteinDel T417_D419>KG NM_000222 20-PANVGP KIT DELETE+ Sub Somatic -3 0.477 SQHIGH 17 27 44 0 57 57 Cosmic_Gene ACTTACGA ACTTACGA AAGGG ACTTACGA ACTTACGA TARGET-20-PANVGP-04A-03D TARGET-20-PANVGP-14A-02D 3815 4 55589767 55589774 71 AML diagnosis snv KIT missense D816V NM_000222 20-PANWHP KIT MISSENSE SNP dbsnp.133:rs121913507 Somatic 10 0.329 SQHIGH 11 16 27 0 18 18 COSMIC:mut:1314 Cosmic_Gene A A T A A TARGET-20-PANWHP-09A-02D TARGET-20-PANWHP-14A-01D 3815 4 55599321 55599321 29 AML diagnosis snv KIT missense D816V NM_000222 20-PANYNR KIT MISSENSE SNP dbsnp.133:rs121913507 Somatic 15 0.634 SQHIGH 13 14 27 0 28 28 COSMIC:mut:1314 Cosmic_Gene A A T A A TARGET-20-PANYNR-09A-01D TARGET-20-PANYNR-14A-01D 3815 4 55599321 55599321 49 AML diagnosis complex KIT frameshift T417_R420fs NM_000222 20-PANZWB KIT FRAMESHIFT Sub Somatic -3 0.438 SQHIGH 22 38 60 0 65 65 Cosmic_Gene ACTTACGACA ACTTACGACA CTTC ACTTACGACA ACTTACGACA TARGET-20-PANZWB-09A-03D TARGET-20-PANZWB-14A-02D 3815 4 55589767 55589776 81 AML diagnosis ins KIT proteinIns Y418>YFF NM_000222 20-PAPVZK KIT INSERT Ins Somatic 6 0.992 SQHIGH 21 23 44 0 46 46 Cosmic_Gene CTTCTT TARGET-20-PAPVZK-09A-03D TARGET-20-PAPVZK-14A-01D 3815 4 55589771 55589771 79 AML diagnosis snv KIT missense D816Y NM_000222 20-PAPXWI KIT MISSENSE SNP dbsnp.133:rs121913506 Somatic -5 0.071 SQHIGH 6 17 23 0 40 40 COSMIC:mut:1310 Cosmic_Gene G G T G G TARGET-20-PAPXWI-09A-03D TARGET-20-PAPXWI-14A-02D 3815 4 55599320 55599320 28 AML relapse snv KIT missense D816V NM_000222 20-PARCZL KIT MISSENSE SNP dbsnp.133:rs121913507 Somatic 4 0.156 SQHIGH 6 17 23 0 31 31 COSMIC:mut:1314 Cosmic_Gene A A T A A TARGET-20-PARCZL-04A-02D TARGET-20-PARCZL-14A-02D 3815 4 55599321 55599321 24 AML diagnosis snv KIT missense N822K NM_000222 20-PARENB KIT MISSENSE SNP Somatic 16 0.642 SQHIGH 13 20 33 0 32 32 COSMIC:mut:1322 Cosmic_Gene T T G T T TARGET-20-PARENB-09A-02D TARGET-20-PARENB-14A-02D 3815 4 55599340 55599340 45 AML diagnosis snv KIT missense D816Y NM_000222 20-PARIMT KIT MISSENSE SNP dbsnp.133:rs121913506 Somatic 3 0.208 SQHIGH 9 12 21 0 17 17 COSMIC:mut:1310 Cosmic_Gene G G T G G TARGET-20-PARIMT-09A-01D TARGET-20-PARIMT-10A-01D 3815 4 55599320 55599320 27 AML diagnosis snv KIT missense A533D NM_000222 20-PARIZR KIT MISSENSE SNP Somatic 10 0.359 SQHIGH 15 28 43 0 64 64 Cosmic_Gene C C A C C TARGET-20-PARIZR-09A-02D TARGET-20-PARIZR-14A-01D 3815 4 55593441 55593441 67 AML diagnosis snv KIT missense D816Y NM_000222 20-PARJYP KIT MISSENSE SNP dbsnp.133:rs121913506 Somatic 17 0.803 SQHIGH 14 19 33 0 28 28 COSMIC:mut:1310 Cosmic_Gene G G T G G TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 3815 4 55599320 55599320 44 AML diagnosis complex KIT proteinDel L416_R420>LLA NM_000222 20-PARMZF KIT DELETE+ Sub Somatic -6 0.302 SQHIGH 24 45 69 0 91 91 Cosmic_Gene TGACTTACGACAG TGACTTACGACAG TCCTGGC TGACTTACGACAG TGACTTACGACAG TARGET-20-PARMZF-09A-02D TARGET-20-PARMZF-14A-01D 3815 4 55589765 55589777 100 AML diagnosis del KIT proteinDel T417_D419>Y NM_000222 20-PARYFN KIT DELETE+ Del Somatic 2 0.724 SQHIGH 18 23 41 0 40 40 Cosmic_Gene GACTTACG GACTTACG GACTTACG GACTTACG TARGET-20-PARYFN-03A-01D TARGET-20-PARYFN-14A-01D 3815 4 55589766 55589773 64 AML diagnosis snv KIT missense D816H NM_000222 20-PASFJB KIT MISSENSE SNP dbsnp.133:rs121913506 Somatic 14 0.502 SQHIGH 14 22 36 0 26 26 COSMIC:mut:1311 Cosmic_Gene G G C G G TARGET-20-PASFJB-09A-04D TARGET-20-PASFJB-14A-02D 3815 4 55599320 55599320 39 AML relapse mnv KIT missense D820_N822>ETF NM_000222 20-PASHYZ KIT MISSENSE Sub Somatic 3 0.839 SQHIGH 7 16 23 0 42 42 Cosmic_Gene TTCTAA TTCTAA GACTTT TTCTAA TTCTAA TARGET-20-PASHYZ-04A-03D TARGET-20-PASHYZ-14A-03D 3815 4 55599334 55599339 35 AML diagnosis mnv KIT missense D820_S821>ET NM_000222 20-PASHYZ KIT MISSENSE Sub Somatic 5 0.991 SQHIGH 15 12 27 0 42 42 Cosmic_Gene TT TT GA TT TT TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 3815 4 55599334 55599335 75 AML diagnosis mnv KIT missense N822F NM_000222 20-PASHYZ KIT MISSENSE Sub Somatic -11 0.235 14 13 27 0 36 36 Cosmic_Gene AA AA TT AA AA TARGET-20-PASHYZ-09A-03D TARGET-20-PASHYZ-14A-03D 3815 4 55599338 55599339 63 AML diagnosis snv KIT missense D816Y NM_000222 20-PASMHY KIT MISSENSE SNP dbsnp.133:rs121913506 Somatic 10 0.335 SQHIGH 16 16 32 0 31 31 COSMIC:mut:1310 Cosmic_Gene G G T G G TARGET-20-PASMHY-03A-01D TARGET-20-PASMHY-10A-01D 3815 4 55599320 55599320 58 AML relapse complex KIT frameshift T417_D419>Y NM_000222 20-PASMYS KIT FRAMESHIFT Sub Somatic 2 0.854 SQHIGH 28 33 61 0 72 72 Cosmic_Gene ACTTACG ACTTACG T ACTTACG ACTTACG TARGET-20-PASMYS-04A-02D TARGET-20-PASMYS-14A-02D 3815 4 55589767 55589773 114 AML diagnosis complex KIT frameshift T417_D419>Y NM_000222 20-PASMYS KIT FRAMESHIFT Sub Somatic 1 0.766 SQHIGH 27 30 57 0 72 72 Cosmic_Gene ACTTACG ACTTACG T ACTTACG ACTTACG TARGET-20-PASMYS-09A-02D TARGET-20-PASMYS-14A-02D 3815 4 55589767 55589773 115 AML diagnosis complex KIT missense T417_D419>YG NM_000222 20-PASPKE KIT MISSENSE SNP Somatic 9 0.299 SQHIGH 14 15 29 0 32 32 Cosmic_Gene CTTACGA CTTACGA ACGG CTTACGA CTTACGA TARGET-20-PASPKE-09A-03D TARGET-20-PASPKE-14A-01D 3815 4 55589768 55589774 55 AML diagnosis snv KIT missense D816Y NM_000222 20-PASWPT KIT MISSENSE SNP dbsnp.133:rs121913506 Somatic 17 0.783 SQHIGH 18 10 28 0 25 25 COSMIC:mut:1310 Cosmic_Gene G G T G G TARGET-20-PASWPT-09A-01D TARGET-20-PASWPT-14A-01D 3815 4 55599320 55599320 67 AML diagnosis complex KIT frameshift Y418_D419fs NM_000222 20-PASYJI KIT FRAMESHIFT Sub Somatic -3 0.481 SQHIGH 12 24 36 0 40 40 Cosmic_Gene ACG ACG AT ACG ACG TARGET-20-PASYJI-09A-03D TARGET-20-PASYJI-14A-02D 3815 4 55589771 55589773 44 AML diagnosis del KIT frameshift I415_T417fs NM_000222 20-PASYJI KIT FRAMESHIFT Del Somatic 0 0.601 SQHIGH 12 28 40 0 36 36 Cosmic_Gene CCTGA CCTGA CCTGA CCTGA TARGET-20-PASYJI-09A-03D TARGET-20-PASYJI-14A-02D 3815 4 55589763 55589767 37 AML relapse ins KIT proteinIns Y418>YFF NM_000222 20-PATIAK KIT INSERT Ins Somatic 5 0.988 SQHIGH 32 27 59 0 49 49 Cosmic_Gene CTTTTT TARGET-20-PATIAK-04A-02D TARGET-20-PATIAK-14A-01D 3815 4 55589771 55589771 107 AML diagnosis snv PIGW missense R446T NM_178517 20-PANLJN PIGW|MYO19 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF06423:GWT1 3 0.141 SQHIGH 13 32 45 0 30 30 Cosmic_Gene G G C G G TARGET-20-PANLJN-09A-03D TARGET-20-PANLJN-14A-02D 284098|80179 17 34894287 34894287 32 AML relapse snv WT1 missense R445P NM_000378 20-PABLDZ WT1 MISSENSE SNP dbsnp.132:rs121907903 Somatic 11 0.338 SQHIGH 20 29 49 0 48 48 Cosmic_Gene C C G C C TARGET-20-PABLDZ-04A-01D TARGET-20-PABLDZ-14A-01D 7490 11 32413565 32413565 70 AML diagnosis snv WT1 missense R445P NM_000378 20-PABLDZ WT1 MISSENSE SNP dbsnp.132:rs121907903 Somatic 12 0.382 SQHIGH 48 4 52 0 48 48 Cosmic_Gene C C G C C TARGET-20-PABLDZ-09A-02D TARGET-20-PABLDZ-14A-01D 7490 11 32413565 32413565 235 AML relapse del WT1 frameshift R363fs NM_000378 20-PAEERJ WT1 FRAMESHIFT Del Somatic PFAM:PF02165:WT1 1 0.607 SQHIGH 9 25 34 1 34 35 Cosmic_Gene C C C C TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 7490 11 32417912 32417912 22 AML relapse ins WT1 frameshift R353fs NM_000378 20-PAEERJ WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 6 0.978 SQHIGH 13 23 36 1 37 38 Cosmic_Gene A TARGET-20-PAEERJ-04A-01D TARGET-20-PAEERJ-14A-02D 7490 11 32417941 32417941 37 AML diagnosis del WT1 frameshift R363fs NM_000378 20-PAEERJ WT1 FRAMESHIFT Del Somatic PFAM:PF02165:WT1 2 0.678 SQHIGH 10 16 26 1 34 35 Cosmic_Gene C C C C TARGET-20-PAEERJ-09A-01D TARGET-20-PAEERJ-14A-02D 7490 11 32417912 32417912 33 AML relapse del WT1 frameshift S364_S366fs NM_000378 20-PAEFGT WT1 NONSENSE Del Somatic PFAM:PF02165:WT1 -1 0.441 SQHIGH 28 37 65 0 60 60 Cosmic_Gene ATGCC ATGCC ATGCC ATGCC TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 7490 11 32417905 32417909 95 AML relapse ins WT1 frameshift R363fs NM_000378 20-PAEFGT WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 5 0.9 SQHIGH 26 22 56 1 45 52 Cosmic_Gene GTACAAGA TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 7490 11 32417913 32417913 83 AML relapse complex WT1 frameshift S363_S366fs NM_000378 20-PAEFGT WT1 FRAMESHIFT Sub Somatic PFAM:PF02165:WT1 -1 0.441 SQHIGH 28 37 65 0 60 60 Cosmic_Gene GATGCCGACC GATGCCGACC GGACCGTACAAGA GGACCGTACAAGA TARGET-20-PAEFGT-04A-01D TARGET-20-PAEFGT-14A-01D 7490 11 32417905 32417909 95 AML diagnosis ins WT1 frameshift R363fs NM_000378 20-PAEFGT WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 6 0.979 SQHIGH 16 17 33 1 45 46 Cosmic_Gene GTACAAGA TARGET-20-PAEFGT-09A-01D TARGET-20-PAEFGT-14A-01D 7490 11 32417913 32417913 62 AML relapse ins WT1 frameshift Y217fs NM_000378 20-PAKRZG WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -2 0.58 SQHIGH 44 2 46 0 24 24 Cosmic_Gene TA TA TARGET-20-PAKRZG-04A-01D TARGET-20-PAKRZG-14A-01D 7490 11 32450161 32450161 160 AML diagnosis ins WT1 frameshift Y217fs NM_000378 20-PAKRZG WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -1 0.593 SQHIGH 31 6 37 0 24 24 Cosmic_Gene TA TARGET-20-PAKRZG-09A-01D TARGET-20-PAKRZG-14A-01D 7490 11 32450161 32450161 110 AML diagnosis ins WT1 frameshift R417fs NM_000378 20-PANCSC WT1 FRAMESHIFT Ins Somatic -6 0.356 SQHIGH 37 30 67 2 49 51 Cosmic_Gene CA TARGET-20-PANCSC-09A-01D TARGET-20-PANCSC-14A-01D 7490 11 32414250 32414250 93 AML relapse del WT1 frameshift R427_G430fs NM_000378 20-PANLXM WT1 SPAN3 Del Somatic -2 0.398 SQHIGH 20 51 71 0 71 71 Cosmic_Gene AACCTGTATGT AACCTGTATGT AACCTGTATGT AACCTGTATGT TARGET-20-PANLXM-04A-01D TARGET-20-PANLXM-14A-01D 7490 11 32414209 32414219 67 AML diagnosis ins WT1 frameshift S364fs NM_000378 20-PANVGE WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 2 0.766 SQHIGH 24 22 46 1 48 49 Cosmic_Gene G TARGET-20-PANVGE-09A-02D TARGET-20-PANVGE-14A-01D 7490 11 32417909 32417909 82 AML diagnosis snv WT1 missense D447N NM_000378 20-PAPWIU WT1 MISSENSE SNP dbsnp.125:rs28941778 Somatic 14 0.558 SQHIGH 12 21 33 0 49 49 COSMIC:mut:27370 Cosmic_Gene C C T C C TARGET-20-PAPWIU-09A-03D TARGET-20-PAPWIU-14A-01D 7490 11 32413560 32413560 54 AML diagnosis snv WT1 missense V362I NM_000378 20-PARFXF WT1 MISSENSE SNP Somatic PFAM:PF02165:WT1 14 0.511 SQHIGH 14 19 33 0 42 42 Cosmic_Gene C C T C C TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 7490 11 32417917 32417917 58 AML diagnosis complex WT1 nonsense T360_R363>* NM_000378 20-PARFXF WT1 FRAMESHIFT Sub Somatic PFAM:PF02165:WT1 3 0.789 SQHIGH 12 23 37 0 38 39 COSMIC:mut:41864 Cosmic_Gene GTACAAGAGT GTACAAGAGT CCTATAATCCCCCTA GTACAAGAGT GTACAAGAGT TARGET-20-PARFXF-09A-01D TARGET-20-PARFXF-14A-01D 7490 11 32417913 32417923 43 AML relapse mnv WT1 splice_region D350_E6splice_region NM_000378 20-PARGDB WT1 ACCEPTOR Sub Somatic 4 0.904 SQHIGH 14 20 34 0 47 47 Cosmic_Gene CA CA GC CA CA TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 7490 11 32417957 32417958 61 AML diagnosis ins WT1 frameshift P359fs NM_000378 20-PARGDB WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -3 0.487 SQHIGH 9 26 35 0 33 34 Cosmic_Gene C TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 7490 11 32417923 32417923 28 AML relapse snv WT1 splice G430_E8splice NM_000378 20-PARIHK WT1 DISRUPT SNP Somatic 1 0.11 SQHIGH 46 12 58 2 47 49 Cosmic_Gene T T A T T TARGET-20-PARIHK-04A-02D TARGET-20-PARIHK-14A-02D 7490 11 32413612 32413612 158 AML diagnosis snv WT1 splice G430_E8splice NM_000378 20-PARIHK WT1 DISRUPT SNP Somatic 0 0.102 SQHIGH 12 43 55 2 47 49 Cosmic_Gene T T A T T TARGET-20-PARIHK-09A-02D TARGET-20-PARIHK-14A-02D 7490 11 32413612 32413612 21 AML relapse del WT1 frameshift T231fs NM_000378 20-PARLVL WT1 FRAMESHIFT Del Somatic PFAM:PF02165:WT1 -1 0.518 SQHIGH 9 26 35 2 70 72 Cosmic_Gene C C C C TARGET-20-PARLVL-04A-01D TARGET-20-PARLVL-14A-02D 7490 11 32450119 32450119 32 AML diagnosis del WT1 frameshift T231fs NM_000378 20-PARLVL WT1 FRAMESHIFT Del Somatic PFAM:PF02165:WT1 3 0.875 SQHIGH 19 83 102 2 70 72 Cosmic_Gene C C C C TARGET-20-PARLVL-09A-03D TARGET-20-PARLVL-14A-02D 7490 11 32450119 32450119 30 AML diagnosis ins WT1 frameshift F386fs NM_000378 20-PARVAI WT1 FRAMESHIFT Ins Somatic 2 0.771 SQHIGH 36 48 84 0 77 77 Cosmic_Gene AAATATCT TARGET-20-PARVAI-09A-02D TARGET-20-PARVAI-14A-01D 7490 11 32417843 32417843 122 AML diagnosis ins WT1 frameshift L391fs NM_000378 20-PARXNG WT1 FRAMESHIFT Ins Somatic 0 0.641 SQHIGH 8 24 32 1 31 32 Cosmic_Gene T TARGET-20-PARXNG-09A-04D TARGET-20-PARXNG-14A-02D 7490 11 32417827 32417827 19 AML relapse ins WT1 frameshift A365fs NM_000378 20-PASGCE WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -1 0.601 SQHIGH 8 16 24 0 30 30 COSMIC:mut:21392 Cosmic_Gene CCGA TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 7490 11 32417907 32417907 32 AML diagnosis ins WT1 frameshift R441fs NM_000378 20-PASHBI WT1 FRAMESHIFT Ins Somatic 3 0.844 SQHIGH 12 24 36 0 35 35 Cosmic_Gene TCCC TARGET-20-PASHBI-09A-01D TARGET-20-PASHBI-14A-01D 7490 11 32413575 32413575 40 AML diagnosis snv WT1 nonsense Q440* NM_000378 20-PASIEJ WT1 NONSENSE SNP Somatic -1 0.092 SQHIGH 11 52 63 0 40 40 Cosmic_Gene G G A G G TARGET-20-PASIEJ-09A-02D TARGET-20-PASIEJ-14A-02D 7490 11 32413581 32413581 25 AML diagnosis snv WT1 missense R445W NM_000378 20-PASIEP WT1 MISSENSE SNP dbsnp.132:rs121907900 Somatic 19 0.944 SQHIGH 21 16 37 0 36 36 COSMIC:mut:21417 Cosmic_Gene G G A G G TARGET-20-PASIEP-09A-05D TARGET-20-PASIEP-14A-01D 7490 11 32413566 32413566 79 AML relapse ins WT1 frameshift L361fs NM_000378 20-PASINN WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -6 0.303 SQHIGH 16 43 59 1 49 50 Cosmic_Gene AGAG TARGET-20-PASINN-04A-02D TARGET-20-PASINN-14A-01D 7490 11 32417918 32417918 38 AML diagnosis ins WT1 frameshift L361fs NM_000378 20-PASINN WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -6 0.316 SQHIGH 32 32 64 1 49 50 Cosmic_Gene AGAG TARGET-20-PASINN-09A-01D TARGET-20-PASINN-14A-01D 7490 11 32417918 32417918 87 AML diagnosis snv WT1 missense D447N NM_000378 20-PASJTM WT1 MISSENSE SNP dbsnp.125:rs28941778 Somatic -8 0.057 SQHIGH 6 38 44 0 41 41 COSMIC:mut:27370 Cosmic_Gene C C T C C TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 7490 11 32413560 32413560 18 AML diagnosis snv WT1 nonsense R441* NM_000378 20-PASJTM WT1 NONSENSE SNP dbsnp.132:rs121907909 Somatic 2 0.139 SQHIGH 8 31 39 0 29 29 COSMIC:mut:21397 Cosmic_Gene G G A G G TARGET-20-PASJTM-09A-01D TARGET-20-PASJTM-14A-01D 7490 11 32413578 32413578 21 AML diagnosis snv WT1 missense R481H NM_000378 20-PASLSD WT1 MISSENSE SNP Somatic 12 0.509 SQHIGH 16 30 46 0 59 59 Cosmic_Gene C C T C C TARGET-20-PASLSD-03A-01D TARGET-20-PASLSD-14A-01D 7490 11 32410656 32410656 65 AML relapse snv WT1 missense R481H NM_000378 20-PASLSD WT1 MISSENSE SNP Somatic 12 0.535 SQHIGH 16 29 45 0 59 59 Cosmic_Gene C C T C C TARGET-20-PASLSD-04A-02D TARGET-20-PASLSD-14A-01D 7490 11 32410656 32410656 66 AML relapse snv WT1 missense D447N NM_000378 20-PASPLU WT1 MISSENSE SNP dbsnp.125:rs28941778 Somatic 20 0.999 SQHIGH 15 22 37 0 43 43 COSMIC:mut:27370 Cosmic_Gene C C T C C TARGET-20-PASPLU-04A-01D TARGET-20-PASPLU-14A-01D 7490 11 32413560 32413560 59 AML diagnosis snv WT1 missense D447N NM_000378 20-PASPLU WT1 MISSENSE SNP dbsnp.125:rs28941778 Somatic 14 0.556 SQHIGH 29 35 64 0 43 43 COSMIC:mut:27370 Cosmic_Gene C C T C C TARGET-20-PASPLU-09A-02D TARGET-20-PASPLU-14A-01D 7490 11 32413560 32413560 79 AML diagnosis ins WT1 frameshift S364fs NM_000378 20-PASPLU WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -4 0.412 SQHIGH 21 27 48 0 47 47 Cosmic_Gene ACCGTACA TARGET-20-PASPLU-09A-02D TARGET-20-PASPLU-14A-01D 7490 11 32417910 32417910 74 AML relapse ins WT1 frameshift A365fs NM_000378 20-PASWPD WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -6 0.337 SQHIGH 28 31 59 1 38 39 COSMIC:mut:21392 Cosmic_Gene CCGA TARGET-20-PASWPD-04A-02D TARGET-20-PASWPD-14A-02D 7490 11 32417907 32417907 64 AML diagnosis ins WT1 frameshift S364fs NM_000378 20-PATKJB WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 -9 0.2 SQHIGH 4 21 25 0 29 29 Cosmic_Gene G TARGET-20-PATKJB-09A-04D TARGET-20-PATKJB-14A-02D 7490 11 32417909 32417909 14 AML diagnosis ins SETD2 frameshift E1518fs NM_014159 20-PANKKE SETD2 FRAMESHIFT Ins somatic 3 32 35 0 33 33 Cosmic_Gene C TARGET-20-PANKKE-09A-03D TARGET-20-PANKKE-14A-02D 29072 3 47158146 47158146 9 AML diagnosis ins KRAS proteinIns G13>GG NM_033360 20-PANLIZ KRAS INSERT Ins somatic 8 27 35 0 25 25 COSMIC:mut:12655 Cosmic_Gene CCA TARGET-20-PANLIZ-09A-02D TARGET-20-PANLIZ-14A-02D 3845 12 25398280 25398280 20 AML diagnosis ins NCOR1 frameshift K638fs NM_006311 20-PANMEM NCOR1 FRAMESHIFT Ins somatic SQHIGH 6 24 30 0 40 40 Cosmic_Gene T TARGET-20-PANMEM-03A-01D TARGET-20-PANMEM-14A-03D 9611 17 16022737 16022737 23 AML diagnosis ins CEBPA proteinIns E309>VE NM_004364 20-PANTPW CEBPA TSS-UPSTREAM|INSERT Ins somatic 20 21 41 0 17 17 Cosmic_Gene CCA TARGET-20-PANTPW-09A-03D TARGET-20-PANTPW-14A-02D 80054|1050 19 33792395 33792395 38 AML diagnosis ins TET2 frameshift V927fs NM_001127208 20-PARFAL TET2 FRAMESHIFT Ins somatic 7 35 42 0 46 46 Cosmic_Gene T TARGET-20-PARFAL-09A-03D TARGET-20-PARFAL-14A-02D 54790 4 106157878 106157878 24 AML diagnosis ins CSF3R frameshift R64fs NM_000760 20-PARGDB CSF3R FRAMESHIFT Ins somatic 5 31 36 0 34 34 Cosmic_Gene T TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 1441 1 36941146 36941146 15 AML diagnosis del ATRX frameshift N1495fs NM_000489 20-PARJYP ATRX FRAMESHIFT Del somatic 5 25 30 0 21 21 Cosmic_Gene T T T T TARGET-20-PARJYP-03A-01D TARGET-20-PARJYP-14A-02D 546 X 76907677 76907677 12 AML diagnosis ins NCOR1 frameshift K351fs NM_006311 20-PARTAL NCOR1 FRAMESHIFT Ins somatic 5 13 18 0 20 20 Cosmic_Gene T TARGET-20-PARTAL-09A-01D TARGET-20-PARTAL-14A-02D 9611 17 16049718 16049718 18 AML diagnosis del SETD2 frameshift D1788fs NM_014159 20-PASPTM SETD2 FRAMESHIFT Del somatic 5 23 28 0 32 32 Cosmic_Gene T T T T TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 29072 3 47127719 47127719 17 AML diagnosis ins WT1 frameshift A365fs NM_000378 20-PASWAT WT1 FRAMESHIFT Ins somatic 10 26 36 0 39 39 COSMIC:mut:21392 Cosmic_Gene CCGA TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 7490 11 32417907 32417907 35 AML diagnosis snv CCND2 missense P281S NM_001759 20-PALGKX CCND2 MISSENSE SNP somatic 3 19 22 0 35 35 Cosmic_Gene C C T C C TARGET-20-PALGKX-09A-01D TARGET-20-PALGKX-14A-01D 894 12 4409146 4409146 13 AML diagnosis snv IDH2 missense R140Q NM_002168 20-PANAEV IDH2 MISSENSE SNP somatic 4 67 71 0 46 46 COSMIC:mut:41590 Cosmic_Gene C C T C C TARGET-20-PANAEV-09A-03D TARGET-20-PANAEV-14A-01D 3418 15 90631934 90631934 9 AML diagnosis mnv CEBPA nonsense R86_Q87>R* NM_004364 20-PANINI CEBPA TSS-UPSTREAM|NONSENSE Sub somatic SQHIGH 3 5 8 0 6 6 Cosmic_Gene GC GC AT GC GC TARGET-20-PANINI-09A-03D TARGET-20-PANINI-14A-02D 80054|1050 19 33793062 33793063 8 AML diagnosis snv NRAS missense Q61K NM_002524 20-PAPVCN NRAS MISSENSE SNP somatic 4 21 25 0 24 24 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-20-PAPVCN-09A-03D TARGET-20-PAPVCN-14A-02D 4893 1 115256530 115256530 12 AML diagnosis snv KIT missense D816H NM_000222 20-PARCVS KIT MISSENSE SNP somatic 3 20 23 0 29 29 COSMIC:mut:1311 Cosmic_Gene G G C G G TARGET-20-PARCVS-03A-01D TARGET-20-PARCVS-14A-01D 3815 4 55599320 55599320 11 AML diagnosis snv KRAS missense I24N NM_033360 20-PARFRN KRAS MISSENSE SNP somatic 4 28 32 0 23 23 Cosmic_Gene A A T A A TARGET-20-PARFRN-09A-03D TARGET-20-PARFRN-14A-01D 3845 12 25398248 25398248 10 AML diagnosis snv ASXL2 splice K85E NM_018263 20-PARGDB ASXL2 MISSENSE SNP somatic SQHIGH 4 16 20 0 20 20 Cosmic_Gene T T C T T TARGET-20-PARGDB-03A-01D TARGET-20-PARGDB-10A-02D 55252 2 26022404 26022404 13 AML diagnosis snv PTPN11 missense G503V NM_002834 20-PARPDS PTPN11 MISSENSE SNP somatic 36 20 56 0 52 52 COSMIC:mut:14271 Cosmic_Gene G G T G G TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 5781 12 112926888 112926888 139 AML diagnosis snv JAK3 missense M511I NM_000215 20-PARPDS JAK3 MISSENSE SNP somatic 5 30 35 0 23 23 Cosmic_Gene C C A C C TARGET-20-PARPDS-09A-01D TARGET-20-PARPDS-14A-02D 3718 19 17949108 17949108 11 AML diagnosis snv CSF3R nonsense Y787* NM_000760 20-PASFLM CSF3R TSS-UPSTREAM|INTRON,NONSENSE SNP somatic 4 41 45 0 69 69 Cosmic_Gene A A T A A TARGET-20-PASFLM-09A-01D TARGET-20-PASFLM-14A-01D 64960|1441 1 36932108 36932108 17 AML diagnosis snv KIT missense D816V NM_000222 20-PASPTM KIT MISSENSE SNP somatic SQHIGH 3 18 21 0 32 32 COSMIC:mut:1314 Cosmic_Gene A A T A A TARGET-20-PASPTM-09A-01D TARGET-20-PASPTM-14A-02D 3815 4 55599321 55599321 12 AML diagnosis snv KRAS missense K117N NM_033360 20-PASWAT KRAS MISSENSE SNP somatic 4 29 33 0 19 19 COSMIC:mut:19940 Cosmic_Gene T T G T T TARGET-20-PASWAT-09A-01D TARGET-20-PASWAT-14A-03D 3845 12 25378647 25378647 8 AML diagnosis snv FLT3 missense D835H NM_004119 20-PATAST FLT3 MISSENSE SNP somatic 5 41 46 0 40 40 COSMIC:mut:785 Cosmic_Gene C C G C C TARGET-20-PATAST-09A-01D TARGET-20-PATAST-10A-01D 2322 13 28592642 28592642 14 AML relapse del CSF3R frameshift L821fs NM_000760 20-PAECCE CSF3R TSS-UPSTREAM|INTRON,FRAMESHIFT Del somatic 4 40 44 0 37 37 Cosmic_Gene G G G G TARGET-20-PAECCE-04A-01D TARGET-20-PAECCE-14A-01D 64960|1441 1 36932008 36932008 11 AML relapse ins TET2 frameshift F1164fs NM_017628 20-PANCSC TET2 INTRON,NONSTOP Ins somatic 4 18 22 0 11 11 Cosmic_Gene T TARGET-20-PANCSC-04A-01D TARGET-20-PANCSC-14A-01D 54790 4 106158588 106158588 7 AML relapse ins EP300 frameshift R1234fs NM_001429 20-PANCSC EP300 NONSENSE Ins somatic 5 25 30 0 19 19 Cosmic_Gene A TARGET-20-PANCSC-04A-01D TARGET-20-PANCSC-14A-01D 2033 22 41558756 41558756 11 AML relapse ins TET2 frameshift R1543fs NM_001127208 20-PANLIR TET2 FRAMESHIFT Ins somatic 3 7 10 0 17 17 Cosmic_Gene C TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 54790 4 106196294 106196294 14 AML relapse del CEBPA frameshift A94fs NM_004364 20-PANLIR CEBPA TSS-UPSTREAM|FRAMESHIFT Del somatic 3 4 7 0 6 6 Cosmic_Gene G G G G TARGET-20-PANLIR-04A-01D TARGET-20-PANLIR-14A-02D 80054|1050 19 33793039 33793039 9 AML relapse del ASXL2 frameshift K527fs NM_018263 20-PANLLX ASXL2 FRAMESHIFT Del somatic 6 24 30 0 30 30 Cosmic_Gene T T T T TARGET-20-PANLLX-04A-01D TARGET-20-PANLLX-14A-01D 55252 2 25972844 25972844 19 AML relapse del PTPN11 frameshift D146fs NM_002834 20-PAPXRJ PTPN11 FRAMESHIFT Del somatic 3 11 14 0 16 16 Cosmic_Gene T T T T TARGET-20-PAPXRJ-04A-02D TARGET-20-PAPXRJ-14A-01D 5781 12 112891104 112891104 10 AML relapse del EP300 frameshift R1137fs NM_001429 20-PARGDB EP300 FRAMESHIFT Del somatic 3 22 25 0 30 30 Cosmic_Gene G G G G TARGET-20-PARGDB-04A-03D TARGET-20-PARGDB-10A-02D 2033 22 41553321 41553321 11 AML relapse del EP300 proteinDel P889_T890>P NM_001429 20-PARPPY EP300 DELETE Del somatic 3 40 43 0 51 51 Cosmic_Gene CAA CAA CAA CAA TARGET-20-PARPPY-40A-01D TARGET-20-PARPPY-14A-01D 2033 22 41546051 41546053 10 AML relapse ins ETV6 frameshift F102fs NM_001987 20-PARUTH ETV6 FRAMESHIFT Ins somatic 5 29 34 0 46 46 Cosmic_Gene TAAGGAGG TARGET-20-PARUTH-04A-01D TARGET-20-PARUTH-14A-01D 2120 12 11992215 11992215 19 AML relapse del ATRX splice G1567_E17splice NM_000489 20-PASCGR ATRX ACCEPTOR Del somatic 5 27 32 0 21 21 Cosmic_Gene A A A A TARGET-20-PASCGR-04A-02D TARGET-20-PASCGR-14A-02D 546 X 76890197 76890197 12 AML relapse del SMC3 frameshift T1174fs NM_005445 20-PASCGR SMC3 FRAMESHIFT Del somatic 3 18 21 0 26 26 Cosmic_Gene T T T T TARGET-20-PASCGR-04A-02D TARGET-20-PASCGR-14A-02D 9126 10 112362988 112362988 11 AML relapse del GATA2 frameshift F171fs NM_001145661 20-PASGCE GATA2 TSS-UPSTREAM|FRAMESHIFT Del somatic 4 23 28 0 28 30 Cosmic_Gene G G G G TARGET-20-PASGCE-40A-01D TARGET-20-PASGCE-14A-01D 100506995|2624 3 128204928 128204928 13 AML relapse ins EZH2 frameshift K318fs NM_001203247 20-PASINN EZH2 FRAMESHIFT Ins somatic 4 32 36 0 37 37 Cosmic_Gene T TARGET-20-PASINN-04A-02D TARGET-20-PASINN-14A-01D 2146 7 148516717 148516717 13 AML relapse del EP300 frameshift A1902fs NM_001429 20-PASMGW EP300 FRAMESHIFT Del somatic 4 24 28 0 19 19 Cosmic_Gene A A A A TARGET-20-PASMGW-40A-01D TARGET-20-PASMGW-14A-01D 2033 22 41573421 41573421 9 AML relapse snv PTPN11 missense G503V NM_002834 20-PAECCE PTPN11 MISSENSE SNP somatic 11 42 53 0 47 47 COSMIC:mut:14271 Cosmic_Gene G G T G G TARGET-20-PAECCE-04A-01D TARGET-20-PAECCE-14A-01D 5781 12 112926888 112926888 33 AML relapse snv EZH2 nonsense R34* NM_001203247 20-PARFAL EZH2 NONSENSE SNP somatic 6 24 30 0 39 39 Cosmic_Gene G G A G G TARGET-20-PARFAL-04A-01D TARGET-20-PARFAL-14A-02D 2146 7 148544291 148544291 23 AML relapse snv PTPN11 missense G503V NM_002834 20-PARPDS PTPN11 MISSENSE SNP somatic 4 38 42 0 52 52 COSMIC:mut:14271 Cosmic_Gene G G T G G TARGET-20-PARPDS-04A-01D TARGET-20-PARPDS-14A-02D 5781 12 112926888 112926888 14 NBL diagnosis snv MIR1976 EXON E8_exon NM_002953 30-PAISNS MIR1976|RPS6KA1 UTR|INTRON SNP Somatic 6 0.187 SQHIGH 19 35 54 0 67 67 Cosmic_Gene G G T G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 100302190|6195 1 26881041 26881041 hsa-mir-1976:MI0009986 76 NBL diagnosis snv COL16A1 splice G541_E24splice NM_001856 30-PAISNS COL16A1 ACCEPTOR SNP Somatic 6 0.187 SQHIGH 38 55 93 1 69 70 Cosmic_Gene G G T G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 1307 1 32154689 32154689 97 NBL diagnosis snv SEC16B silent R892R NM_033127 30-PAISNS SEC16B SYNONYMOUS SNP Somatic 7 0.212 SQHIGH 21 32 53 0 45 45 Cosmic_Gene G G T G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 89866 1 177902669 177902669 66 NBL diagnosis snv OR14I1 missense G39W NM_001004734 30-PAISNS OR14I1 MISSENSE SNP Somatic 2 0.113 SQHIGH 21 21 42 0 36 37 C C A C C TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 401994 1 248845491 248845491 70 NBL diagnosis snv NBEAL2 missense I1042V NM_015175 30-PAISNS NBEAL2 MISSENSE SNP Somatic -10 0.041 SQHIGH 4 18 22 0 59 59 Cosmic_Gene A A G A A TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 23218 3 47039958 47039958 24 NBL diagnosis snv ZNF131 missense R265Q NM_003432 30-PAISNS ZNF131 MISSENSE SNP Somatic 15 0.617 SQHIGH 22 27 49 0 58 58 G G A G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 7690 5 43161875 43161875 89 NBL diagnosis snv RPS16P5 EXON E1_exon NM_021814 30-PAISNS ELOVL5 INTRON SNP Somatic 10 0.293 SQHIGH 25 36 61 0 99 99 A A T A A TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 60481 6 53202366 53202366 121 NBL diagnosis snv SENP6 nonsense Q794* NM_015571 30-PAISNS SENP6 NONSENSE SNP Somatic PFAM:PF02902:Peptidase_C48 17 0.838 SQHIGH 12 16 28 0 26 26 Cosmic_Gene C C T C C TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 26054 6 76412452 76412452 41 NBL diagnosis snv KATNBL1P6 EXON E35_exon NM_024694 30-PAISNS LOC729176|C6orf103 UTR|INTRON SNP Somatic 15 0.617 SQHIGH 31 21 52 0 41 41 Cosmic_Gene A A T A A TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 729176|79747 6 147124874 147124874 104 NBL diagnosis snv GSR missense L230F NM_000637 30-PAISNS GSR MISSENSE SNP Somatic 9 0.262 SQHIGH 12 28 40 0 41 41 Cosmic_Gene C C A C C TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 2936 8 30557603 30557603 41 NBL diagnosis snv RMDN1 silent Y62Y NM_016033 30-PAISNS RMDN1 SYNONYMOUS SNP Somatic 8 0.237 SQHIGH 16 23 39 0 44 44 Cosmic_Gene A A G A A TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 51115 8 87519285 87519285 61 NBL diagnosis snv OR1B1 missense Y258N NM_001004450 30-PAISNS OR1B1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 10 0.293 SQHIGH 18 20 38 0 34 34 A A T A A TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 347169 9 125391043 125391043 61 NBL diagnosis snv ANKRD30A splice P469A NM_052997 30-PAISNS ANKRD30A MISSENSE SNP Somatic 16 0.696 SQHIGH 15 22 37 1 36 37 Cosmic_Gene C C G C C TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 91074 10 37438705 37438705 43 NBL diagnosis snv SPRNP1 EXON E2_exon NM_130784 30-PAISNS SPRNP1|SYCE1 UTR|INTRON,TSS-UPSTREAM SNP Somatic 7 0.212 SQHIGH 6 33 39 0 38 38 Cosmic_Gene G G T G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 399833|93426 10 135381492 135381492 19 NBL diagnosis snv RTN4RL2 missense Q142R NM_178570 30-PAISNS RTN4RL2 MISSENSE SNP Somatic -2 0.075 SQHIGH 6 19 25 0 36 36 A A G A A TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 349667 11 57235475 57235475 25 NBL diagnosis snv ALG1L9P EXON E3_exon NM_018172 30-PAISNS FAM86C1 INTRON SNP Somatic 0 0.090 SQHIGH 24 31 55 0 73 73 C C A C C TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 55199 11 71505544 71505544 104 NBL diagnosis snv TPTE2P5 EXON E3_exon NM_014252 30-PAISNS SLC25A15|LOC100616668 INTRON|UTR SNP Somatic -8 0.047 SQHIGH 7 43 50 0 66 66 G G T G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 10166|100616668 13 41374287 41374287 27 NBL diagnosis snv FAM179B silent G1671G NM_015091 30-PAISNS FAM179B SYNONYMOUS SNP Somatic 14 0.506 SQHIGH 14 18 32 1 32 33 Cosmic_Gene A A T A A TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 23116 14 45542614 45542614 41 NBL diagnosis snv TUBGCP5 missense A433S NM_052903 30-PAISNS TUBGCP5 MISSENSE SNP Somatic PFAM:PF04130:Spc97_Spc98 -4 0.063 SQHIGH 5 32 37 0 40 40 Cosmic_Gene G G T G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 114791 15 22851035 22851035 17 NBL diagnosis snv UBR1 splice_region G1457_E39splice_region NM_174916 30-PAISNS UBR1 DONOR SNP Somatic 16 0.696 SQHIGH 15 20 35 0 24 24 Cosmic_Gene T T A T T TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 197131 15 43268911 43268911 41 NBL diagnosis snv CARHSP1 missense K117R NM_014316 30-PAISNS CARHSP1 MISSENSE SNP Somatic 16 0.696 SQHIGH 24 16 40 0 54 54 T T C T T TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 23589 16 8949115 8949115 114 NBL diagnosis snv RNF135 silent V142V NM_032322 30-PAISNS RNF135 SYNONYMOUS SNP Somatic 9 0.262 SQHIGH 22 40 62 0 63 63 Cosmic_Gene G G A G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 84282 17 29311688 29311688 77 NBL diagnosis snv KRT15 silent Q142Q NM_002275 30-PAISNS KRT15 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament 4 0.141 SQHIGH 16 55 71 0 40 40 C C T C C TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 3866 17 39674654 39674654 34 NBL diagnosis snv GRIN2C splice_region E497_E6splice_region NM_000835 30-PAISNS GRIN2C INTRON SNP Somatic -8 0.047 SQHIGH 38 87 125 1 54 55 Cosmic_Gene G G T G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 2905 17 72846337 72846337 57 NBL diagnosis snv ITGB4 silent T309T NM_000213 30-PAISNS ITGB4 SYNONYMOUS SNP Somatic PFAM:PF04811:Sec23_trunk -5 0.059 SQHIGH 10 67 77 0 37 37 Cosmic_Gene C C A C C TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 3691 17 73726510 73726510 18 NBL diagnosis snv GDF1 silent L306L NM_001492 30-PAISNS GDF1|CERS1 SYNONYMOUS|UTR3 SNP Somatic PFAM:PF00019:TGF_beta -6 0.055 SQHIGH 7 6 13 0 13 13 G G A G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 2657|10715 19 18979609 18979609 26 NBL diagnosis snv LIPE silent A351A NM_005357 30-PAISNS LIPE SYNONYMOUS SNP Somatic PFAM:PF06350:HSL_N -7 0.051 SQHIGH 3 4 7 1 25 26 Cosmic_Gene G G C G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 3991 19 42914825 42914825 16 NBL diagnosis snv SIGLEC5 missense L265M NM_003830 30-PAISNS SIGLEC5 MISSENSE SNP Somatic PFAM:PF00047:ig 5 0.157 SQHIGH 26 4 30 0 44 44 Cosmic_Gene G G T G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 8778 19 52131291 52131291 154 NBL diagnosis snv SYCP2 missense E479K NM_014258 30-PAISNS SYCP2 MISSENSE SNP Somatic 11 0.333 SQHIGH 9 21 30 0 35 35 Cosmic_Gene C C T C C TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 10388 20 58471553 58471553 33 NBL diagnosis snv SLC35E4 missense R342Q NM_001001479 30-PAISNS SLC35E4 MISSENSE SNP Somatic 10 0.293 SQHIGH 11 35 46 0 34 34 G G A G G TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 339665 22 31042990 31042990 29 NBL diagnosis snv BRWD3 missense A166S NM_153252 30-PAISNS BRWD3 MISSENSE SNP Somatic 13 0.433 SQHIGH 8 2 10 0 19 19 Cosmic_Gene C A C TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 254065 X 80001163 80001163 50 NBL diagnosis snv ATXN7 silent V566V NM_000333 30-PAIVZR ATXN7 SYNONYMOUS SNP Somatic 7 0.260 SQHIGH 24 39 63 0 58 58 G G T G G TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 6314 3 63981196 63981196 79 NBL diagnosis snv STX18 nonsense E69* NM_016930 30-PAIVZR STX18 NONSENSE SNP Somatic PFAM:PF10496:Syntaxin-18_N 11 0.407 SQHIGH 11 22 33 0 40 40 C C A C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 53407 4 4473397 4473397 43 NBL diagnosis snv DOPEY1 missense N2283Y NM_015018 30-PAIVZR DOPEY1 MISSENSE SNP Somatic PFAM:PF04118:Dopey_N 14 0.608 SQHIGH 8 21 29 0 37 37 Cosmic_Gene A A T A A TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 23033 6 83869564 83869564 31 NBL diagnosis snv SASH1 missense L911M NM_015278 30-PAIVZR SASH1 MISSENSE SNP Somatic 7 0.260 SQHIGH 24 37 61 0 98 98 Cosmic_Gene C C A C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 23328 6 148865337 148865337 115 NBL diagnosis snv AKAP9 missense Q1476K NM_005751 30-PAIVZR AKAP9 MISSENSE SNP Somatic 0 0.135 SQHIGH 6 13 19 0 22 22 Cosmic_Gene C C A C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 10142 7 91667820 91667820 22 NBL diagnosis snv SPIDR silent P717P NM_001080394 30-PAIVZR SPIDR SYNONYMOUS SNP Somatic -10 0.058 SQHIGH 6 30 36 2 57 59 T T C T T TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 23514 8 48625397 48625397 15 NBL diagnosis snv FBXO43 silent K96K NM_001029860 30-PAIVZR FBXO43 SYNONYMOUS,UTR SNP Somatic 2 0.159 SQHIGH 8 17 25 0 32 32 Cosmic_Gene C C T C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 286151 8 101154194 101154194 32 NBL diagnosis snv RMI1 missense E332K NM_024945 30-PAIVZR RMI1 MISSENSE SNP Somatic 12 0.462 SQHIGH 16 24 40 1 53 54 G G A G G TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 80010 9 86616895 86616895 58 NBL diagnosis snv PPRC1 missense R763C NM_015062 30-PAIVZR PPRC1 MISSENSE SNP Somatic 9 0.323 SQHIGH 24 35 59 1 79 80 Cosmic_Gene C C T C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 23082 10 103900552 103900552 91 NBL diagnosis snv PVRL1 missense G350W NM_002855 30-PAIVZR PVRL1 INTRON,MISSENSE SNP Somatic 7 0.260 SQHIGH 12 12 24 0 31 31 C C A C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 5818 11 119535963 119535963 52 NBL diagnosis snv TMTC1 missense T422K NM_175861 30-PAIVZR TMTC1 MISSENSE SNP Somatic -3 0.103 SQHIGH 4 15 19 0 22 22 G G T G G TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 83857 12 29709877 29709877 14 NBL diagnosis snv ZFHX2 nonsense C764* NM_033400 30-PAIVZR ZFHX2 NONSENSE SNP Somatic -9 0.063 SQHIGH 7 52 59 0 88 88 G G T G G TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 85446 14 24002043 24002043 29 NBL diagnosis snv HSP90AB4P EXON E2_exon NM_001110 30-PAIVZR ADAM10|HSP90AB4P INTRON|TSS-UPSTREAM SNP Somatic 15 0.684 SQHIGH 8 16 24 0 46 46 Cosmic_Gene C C A C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 102|664618 15 58985528 58985528 41 NBL diagnosis snv CRAMP1L silent L244L NM_020825 30-PAIVZR CRAMP1L SYNONYMOUS SNP Somatic 6 0.235 SQHIGH 20 38 58 0 77 77 G G C G G TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 57585 16 1687862 1687862 83 NBL diagnosis snv CREBBP splice G1465_E27splice NM_004380 30-PAIVZR CREBBP DISRUPT SNP Somatic 7 0.260 SQHIGH 27 39 66 0 71 71 Cosmic_Gene C C T C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 1387 16 3786817 3786817 101 NBL diagnosis snv MYH3 silent P137P NM_002470 30-PAIVZR MYH3 SYNONYMOUS SNP Somatic 9 0.323 SQHIGH 9 14 23 0 41 41 Cosmic_Gene G G A G G TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 4621 17 10554923 10554923 45 NBL diagnosis snv DLL3 missense R160P NM_016941 30-PAIVZR DLL3 MISSENSE SNP Somatic -3 0.103 SQHIGH 3 17 20 0 44 44 Cosmic_Gene G G C G G TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 10683 19 39993524 39993524 16 NBL diagnosis snv VPS16 missense R152C NM_022575 30-PAIVZR PTPRA|VPS16 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF04841:Vps16_N -2 0.113 SQHIGH 10 39 49 0 81 81 Cosmic_Gene C C T C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 5786|64601 20 2841179 2841179 45 NBL diagnosis snv CXorf67 missense A245D NM_203407 30-PAIVZR CXorf67 UTR SNP Somatic 8 0.289 SQHIGH 14 33 47 0 68 68 Cosmic_Gene C C A C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 340602 X 51150602 51150602 60 NBL diagnosis snv DKC1 missense F216L NM_001363 30-PAIVZR DKC1|SNORA36A MISSENSE|TSS-UPSTREAM SNP Somatic 7 0.260 SQHIGH 10 35 45 1 60 61 T T C T T TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 1736|677817 X 153996582 153996582 31 NBL diagnosis mnv SMAD7 missense R106L NM_005904 30-PAIVZR SMAD7 TSS-UPSTREAM,MISSENSE Sub Somatic -10 0.307 SQHIGH 3 16 19 0 46 46 CC CC AA CC CC TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 4092 18 46476477 46476478 17 NBL diagnosis snv PLCD1 missense F736L NM_001130964 30-PAIXFZ PLCD1 MISSENSE,UTR SNP Somatic 9 0.289 SQHIGH 14 34 48 1 47 48 Cosmic_Gene G G T G G TARGET-30-PAIXFZ-01A-01D TARGET-30-PAIXFZ-10A-01D 5333 3 38049545 38049545 37 NBL diagnosis snv CCRL2 missense I295T NM_003965 30-PAIXFZ CCRL2 MISSENSE SNP Somatic 4 0.172 SQHIGH 8 16 24 1 36 37 Cosmic_Gene T T C T T TARGET-30-PAIXFZ-01A-01D TARGET-30-PAIXFZ-10A-01D 9034 3 46450454 46450454 28 NBL diagnosis snv AASDH missense T354S NM_181806 30-PAIXFZ AASDH MISSENSE SNP Somatic PFAM:PF04443:LuxE 2 0.142 SQHIGH 5 22 27 0 21 21 Cosmic_Gene G G C G G TARGET-30-PAIXFZ-01A-01D TARGET-30-PAIXFZ-10A-01D 132949 4 57221390 57221390 13 NBL diagnosis snv FCHSD1 missense P611T NM_033449 30-PAIXFZ FCHSD1 MISSENSE SNP Somatic 6 0.211 SQHIGH 13 24 37 1 32 33 Cosmic_Gene G G T G G TARGET-30-PAIXFZ-01A-01D TARGET-30-PAIXFZ-10A-01D 89848 5 141023817 141023817 32 NBL diagnosis snv SDK2 missense G41V NM_001144952 30-PAIXFZ SDK2 MISSENSE SNP Somatic PFAM:PF00047:ig 18 0.862 SQHIGH 17 15 32 0 40 40 Cosmic_Gene C C A C C TARGET-30-PAIXFZ-01A-01D TARGET-30-PAIXFZ-10A-01D 54549 17 71503679 71503679 74 NBL diagnosis snv CACNA1I missense E1444K NM_021096 30-PAIXFZ CACNA1I MISSENSE SNP Somatic 2 0.142 SQHIGH 12 9 21 0 29 29 Cosmic_Gene G G A G G TARGET-30-PAIXFZ-01A-01D TARGET-30-PAIXFZ-10A-01D 8911 22 40066178 40066178 56 NBL diagnosis snv PLXNB1 missense P192T NM_002673 30-PAKZRH PLXNB1 MISSENSE SNP Somatic PFAM:PF01403:Sema -10 0.046 SQHIGH 8 33 41 2 40 42 Cosmic_Gene G G T G G TARGET-30-PAKZRH-01A-01D TARGET-30-PAKZRH-10A-01D 5364 3 48465447 48465447 14 NBL diagnosis snv B4GALNT1 missense L184R NM_001478 30-PAKZRH B4GALNT1 MISSENSE SNP Somatic -9 0.051 SQHIGH 5 26 31 0 31 31 A A C A A TARGET-30-PAKZRH-01A-01D TARGET-30-PAKZRH-10A-01D 2583 12 58024096 58024096 16 NBL diagnosis snv F2RL2 missense A9V NM_004101 30-PALKXJ F2RL2|IQGAP2 MISSENSE|INTRON SNP Somatic -6 0.073 SQHIGH 4 13 17 0 27 27 Cosmic_Gene G G A G G TARGET-30-PALKXJ-01A-01D TARGET-30-PALKXJ-10A-01D 2151|10788 5 75919030 75919030 18 NBL diagnosis snv C2orf71 silent Q1027Q NM_001029883 30-PALNVP C2orf71 SYNONYMOUS SNP Somatic 5 0.187 SQHIGH 5 15 20 0 23 23 Cosmic_Gene C C T C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 388939 2 29294047 29294047 18 NBL diagnosis snv ALK missense F1245V NM_004304 30-PALNVP ALK MISSENSE SNP Somatic 6 0.226 SQHIGH 15 50 65 0 47 47 COSMIC:mut:28499 Cosmic_Gene A A C A A TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 238 2 29436860 29436860 39 NBL diagnosis snv NBEAL2 missense Q1608H NM_015175 30-PALNVP NBEAL2 MISSENSE SNP Somatic -28 0.006 5 17 22 1 49 50 Cosmic_Gene G G C G G TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 23218 3 47043451 47043451 21 NBL diagnosis snv ARL14 missense D135E NM_025047 30-PALNVP ARL14 MISSENSE SNP Somatic -3 0.079 SQHIGH 3 14 17 0 39 39 C C G C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 80117 3 160395539 160395539 16 NBL diagnosis snv FGFRL1 silent P129P NM_001004356 30-PALNVP FGFRL1 SYNONYMOUS SNP Somatic -8 0.052 SQHIGH 6 9 15 0 8 8 C C T C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 53834 4 1017463 1017463 13 NBL diagnosis snv RFC1 missense A304T NM_002913 30-PALNVP RFC1 MISSENSE SNP Somatic 7 0.253 SQHIGH 6 29 35 0 28 28 Cosmic_Gene C C T C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 5981 4 39322188 39322188 16 NBL diagnosis snv TAP1 splice G260_E2splice NM_000593 30-PALNVP TAP1|PSMB9 MISSENSE|TSS-UPSTREAM SNP Somatic 7 0.253 SQHIGH 20 64 84 2 55 57 Cosmic_Gene C C A C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 6890|5698 6 32820279 32820279 32 NBL diagnosis snv KIAA1244 missense T1157K NM_020340 30-PALNVP KIAA1244 MISSENSE SNP Somatic -3 0.079 SQHIGH 11 40 51 0 32 32 Cosmic_Gene C C A C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 57221 6 138615231 138615231 25 NBL diagnosis snv TMEM67 splice_region G654_E19splice_region NM_153704 30-PALNVP TMEM67 DONOR SNP Somatic 11 0.383 SQHIGH 11 21 32 0 36 36 Cosmic_Gene A A C A A TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 91147 8 94809464 94809464 41 NBL diagnosis snv PPP1R3C missense P227L NM_005398 30-PALNVP PPP1R3C MISSENSE SNP Somatic PFAM:PF03370:CBM_21 -1 0.098 SQHIGH 13 69 82 0 56 56 Cosmic_Gene G G A G G TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 5507 10 93389958 93389958 31 NBL diagnosis snv DTX4 missense W93L NM_015177 30-PALNVP DTX4 MISSENSE SNP Somatic PFAM:PF02825:WWE -2 0.088 SQHIGH 10 43 53 0 48 48 Cosmic_Gene G G T G G TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 23220 11 58949278 58949278 30 NBL diagnosis snv TENM4 silent N2646N NM_001098816 30-PALNVP TENM4 SYNONYMOUS SNP Somatic 6 0.226 SQHIGH 13 37 50 0 57 57 Cosmic_Gene G G A G G TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 26011 11 78369475 78369475 47 NBL diagnosis snv BIRC2 silent A5A NM_001166 30-PALNVP BIRC2 SYNONYMOUS SNP Somatic 12 0.433 SQHIGH 14 25 39 0 37 37 Cosmic_Gene C C T C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 329 11 102220600 102220600 47 NBL diagnosis snv CD27-AS1 EXON E2_exon NM_001242 30-PALNVP LOC678655|CD27|TAPBPL UTR|INTRON|TSS-UPSTREAM SNP Somatic -2 0.088 SQHIGH 5 19 24 0 25 25 C C T C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 678655|939|55080 12 6557903 6557903 17 NBL diagnosis snv CLEC2A missense R150Q NM_207375 30-PALNVP SNP Somatic -4 0.073 SQHIGH 8 2 10 0 15 15 C C T C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 12 10051537 10051537 44 NBL diagnosis snv CALML4 missense Q66K NM_033429 30-PALNVP CALML4 INTRON,MISSENSE SNP Somatic -5 0.066 SQHIGH 4 28 32 0 38 38 G G T G G TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 91860 15 68491987 68491987 14 NBL diagnosis snv MYH8 missense I1022T NM_002472 30-PALNVP MYH8 MISSENSE SNP Somatic -8 0.052 SQHIGH 9 40 49 0 37 37 Cosmic_Gene A A G A A TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 4626 17 10304635 10304635 23 NBL diagnosis snv HNF1B missense M546V NM_000458 30-PALNVP HNF1B MISSENSE SNP Somatic 6 0.226 SQHIGH 11 30 41 1 30 31 Cosmic_Gene T T C T T TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 6928 17 36059099 36059099 22 NBL diagnosis snv RHPN2 silent L43L NM_033103 30-PALNVP RHPN2 SYNONYMOUS SNP Somatic 4 0.167 SQHIGH 6 23 29 0 23 23 Cosmic_Gene C C T C C TARGET-30-PALNVP-01A-01D TARGET-30-PALNVP-10A-01D 85415 19 33535211 33535211 16 NBL diagnosis snv SLC45A3 missense D491Y NM_033102 30-PALXTB SLC45A3 MISSENSE SNP Somatic 17 0.807 SQHIGH 13 21 34 0 36 36 Cosmic_Gene C C A C C TARGET-30-PALXTB-01A-01D TARGET-30-PALXTB-10A-01D 85414 1 205628553 205628553 47 NBL diagnosis snv EPHA4 splice R327_E4splice NM_004438 30-PALXTB EPHA4 MISSENSE SNP Somatic -5 0.065 SQHIGH 7 52 59 0 57 57 Cosmic_Gene G G A G G TARGET-30-PALXTB-01A-01D TARGET-30-PALXTB-10A-01D 2043 2 222365737 222365737 21 NBL diagnosis snv SCRIB missense S547R NM_182706 30-PALXTB SCRIB MISSENSE SNP Somatic 2 0.124 SQHIGH 6 20 26 0 20 20 Cosmic_Gene G G C G G TARGET-30-PALXTB-01A-01D TARGET-30-PALXTB-10A-01D 23513 8 144891778 144891778 16 NBL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 30-PALXTB KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 19 0.936 SQHIGH 17 18 35 0 37 37 Cosmic_Gene A A G A A TARGET-30-PALXTB-01A-01D TARGET-30-PALXTB-10A-01D 3784|10984 11 2665051 2665051 65 NBL diagnosis snv TSNAXIP1 silent G332G NM_018430 30-PALXTB TSNAXIP1 SYNONYMOUS SNP Somatic 12 0.377 SQHIGH 16 24 40 0 38 38 G G C G G TARGET-30-PALXTB-01A-01D TARGET-30-PALXTB-10A-01D 55815 16 67860068 67860068 54 NBL diagnosis snv DRAXIN silent P72P NM_198545 30-PAMNLH DRAXIN SYNONYMOUS SNP Somatic 11 0.374 SQHIGH 12 30 42 0 36 36 C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 374946 1 11766531 11766531 36 NBL diagnosis snv PODN missense P400Q NM_153703 30-PAMNLH PODN MISSENSE SNP Somatic 16 0.708 SQHIGH 23 18 41 0 40 40 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 127435 1 53544237 53544237 87 NBL diagnosis snv FAM73A splice_region N561_E16splice_region NM_198549 30-PAMNLH FAM73A ACCEPTOR SNP Somatic 9 0.303 SQHIGH 9 22 31 0 36 36 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 374986 1 78340527 78340527 33 NBL diagnosis snv RPTN missense Q680K NM_001122965 30-PAMNLH RPTN MISSENSE SNP Somatic 7 0.248 SQHIGH 19 45 64 0 66 66 G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 126638 1 152127537 152127537 65 NBL diagnosis snv HAX1 splice_region D186_E4splice_region NM_006118 30-PAMNLH HAX1 DONOR SNP Somatic 8 0.274 SQHIGH 17 29 46 0 44 44 A A G A A TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 10456 1 154247481 154247481 57 NBL diagnosis snv CAMK1G missense Q172H NM_020439 30-PAMNLH CAMK1G MISSENSE SNP Somatic 9 0.303 SQHIGH 19 25 44 0 40 40 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 57172 1 209779745 209779745 64 NBL diagnosis snv OR13G1 missense P259H NM_001005487 30-PAMNLH OR13G1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 14 0.548 SQHIGH 11 23 34 0 55 55 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 441933 1 247835568 247835568 51 NBL diagnosis snv OR2T10 missense T44S NM_001004693 30-PAMNLH OR2T10 MISSENSE SNP Somatic 18 0.876 SQHIGH 14 23 37 0 53 53 Cosmic_Gene T T A T T TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 127069 1 248756940 248756940 62 NBL diagnosis snv ITGA4 missense C144F NM_000885 30-PAMNLH ITGA4 MISSENSE SNP Somatic 5 0.187 SQHIGH 20 46 66 0 53 53 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 3676 2 182339890 182339890 58 NBL diagnosis snv COL5A2 silent E1250E NM_000393 30-PAMNLH COL5A2 SYNONYMOUS SNP Somatic 6 0.219 SQHIGH 14 38 52 0 37 37 Cosmic_Gene C C T C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 1290 2 189904173 189904173 36 NBL diagnosis snv ERBB4 splice_region A333_E8splice_region NM_005235 30-PAMNLH ERBB4 INTRON SNP Somatic 9 0.303 SQHIGH 21 17 38 0 33 33 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 2066 2 212578253 212578253 73 NBL diagnosis snv DMP1 silent D316D NM_004407 30-PAMNLH DMP1 SYNONYMOUS SNP Somatic PFAM:PF07263:DMP1 1 0.121 SQHIGH 12 41 53 1 46 47 Cosmic_Gene C C T C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 1758 4 88583878 88583878 27 NBL diagnosis snv QRFPR missense N395I NM_198179 30-PAMNLH QRFPR MISSENSE SNP Somatic 12 0.424 SQHIGH 11 20 31 0 45 45 T T A T T TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 84109 4 122250581 122250581 48 NBL diagnosis snv LOC100288152 EXON E12_exon NM_004174 30-PAMNLH SLC9A3|LOC100288152|PP7080 INTRON|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 0 0.110 SQHIGH 6 22 28 0 24 24 G G A G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 6550|100288152|25845 5 476607 476607 17 NBL diagnosis snv GPR98 missense P2799Q NM_032119 30-PAMNLH GPR98 MISSENSE,UTR SNP Somatic 8 0.274 SQHIGH 10 25 35 0 20 20 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 84059 5 90001226 90001226 22 NBL diagnosis snv LOC100505841 nonsense S5* NM_001195535 30-PAMNLH LOC100505841 NONSENSE SNP Somatic 16 0.708 SQHIGH 15 18 33 0 34 34 C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 100505841 5 121495938 121495938 55 NBL diagnosis snv JAKMIP2 missense E593D NM_014790 30-PAMNLH LOC153469|JAKMIP2 INTRON|MISSENSE SNP Somatic 6 0.219 SQHIGH 25 18 43 0 40 40 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 153469|9832 5 147011072 147011072 93 NBL diagnosis snv G3BP1 splice R32_E3splice NM_005754 30-PAMNLH G3BP1 ACCEPTOR SNP Somatic 17 0.825 SQHIGH 21 17 38 0 27 27 Cosmic_Gene C C G C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 10146 5 151169881 151169881 63 NBL diagnosis snv PRR7-AS1 EXON E13_exon NM_001004106 30-PAMNLH GRK6|LOC340037 INTRON|UTR SNP Somatic 1 0.121 SQHIGH 10 43 53 0 32 32 Cosmic_Gene C C T C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 2870|340037 5 176865621 176865621 22 NBL diagnosis snv MICB silent P232P NM_005931 30-PAMNLH MICB SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 29 50 79 0 52 52 C C T C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 4277 6 31474881 31474881 75 NBL diagnosis snv COL21A1 splice_region S270_E4splice_region NM_030820 30-PAMNLH COL21A1 DONOR SNP Somatic 13 0.477 SQHIGH 7 6 13 0 23 23 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 81578 6 56035752 56035752 37 NBL diagnosis snv FNDC1 missense S237T NM_032532 30-PAMNLH FNDC1 MISSENSE SNP Somatic -7 0.058 SQHIGH 3 12 15 0 33 33 Cosmic_Gene T T A T T TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 84624 6 159642671 159642671 16 NBL diagnosis snv KLHL7 missense V176F NM_001031710 30-PAMNLH KLHL7 MISSENSE,UTR SNP Somatic PFAM:PF07707:BACK -6 0.064 SQHIGH 8 27 35 0 37 37 G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 55975 7 23180471 23180471 27 NBL diagnosis snv MAGI2 missense D358Y NM_012301 30-PAMNLH MAGI2 MISSENSE SNP Somatic PFAM:PF00397:WW -7 0.058 SQHIGH 6 30 36 0 28 28 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 9863 7 77998504 77998504 16 NBL diagnosis snv DBF4 silent E39E NM_006716 30-PAMNLH DBF4|SLC25A40 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 3 0.151 SQHIGH 22 36 58 0 47 47 Cosmic_Gene A A G A A TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 10926|55972 7 87507438 87507438 66 NBL diagnosis snv ZKSCAN5 silent E40E NM_014569 30-PAMNLH ZKSCAN5 SYNONYMOUS SNP Somatic 6 0.219 SQHIGH 15 44 59 0 32 32 Cosmic_Gene G G A G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 23660 7 99103787 99103787 31 NBL diagnosis snv NAPEPLD missense A118D NM_001122838 30-PAMNLH NAPEPLD MISSENSE SNP Somatic 3 0.151 SQHIGH 11 44 55 0 31 31 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 222236 7 102760612 102760612 23 NBL diagnosis snv RNF32 missense E48A NM_030936 30-PAMNLH C7orf13|RNF32 TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.058 SQHIGH 7 39 46 0 35 35 A A C A A TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 129790|140545 7 156437320 156437320 18 NBL diagnosis snv ZNF707 missense A203G NM_173831 30-PAMNLH BREA2|ZNF707 TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.248 SQHIGH 4 22 26 0 31 31 Cosmic_Gene C C G C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 286076|286075 8 144776192 144776192 14 NBL diagnosis snv DOCK8 silent G144G NM_203447 30-PAMNLH DOCK8 SYNONYMOUS SNP Somatic PFAM:PF11878:DUF3398 14 0.548 SQHIGH 10 29 39 0 38 38 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 81704 9 304608 304608 32 NBL diagnosis snv ZER1 silent L578L NM_006336 30-PAMNLH ZER1 SYNONYMOUS SNP Somatic 8 0.274 SQHIGH 11 32 43 0 53 53 Cosmic_Gene G G A G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 10444 9 131503819 131503819 42 NBL diagnosis snv SEC16A silent L428L NM_014866 30-PAMNLH SEC16A SYNONYMOUS SNP Somatic -6 0.064 SQHIGH 4 22 26 0 31 31 G G C G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 9919 9 139370784 139370784 14 NBL diagnosis snv WDFY4 missense F2358L NM_020945 30-PAMNLH WDFY4 MISSENSE SNP Somatic 6 0.219 SQHIGH 16 35 51 0 58 58 C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 57705 10 50085151 50085151 59 NBL diagnosis snv A1CF missense V107L NM_014576 30-PAMNLH A1CF MISSENSE SNP Somatic 0 0.110 SQHIGH 5 12 17 0 27 27 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 29974 10 52601668 52601668 22 NBL diagnosis snv PLCE1 missense M1092I NM_016341 30-PAMNLH PLCE1 MISSENSE SNP Somatic 9 0.303 SQHIGH 12 28 40 0 58 58 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 51196 10 96012252 96012252 52 NBL diagnosis snv OR56A4 missense I147T NM_001005179 30-PAMNLH OR56A4 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.219 SQHIGH 24 59 83 0 77 77 Cosmic_Gene A A G A A TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 120793 11 6023939 6023939 77 NBL diagnosis snv KRT85 missense C44S NM_002283 30-PAMNLH KRT85 MISSENSE SNP Somatic 5 0.187 SQHIGH 8 19 27 0 18 18 Cosmic_Gene C C G C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 3891 12 52761059 52761059 20 NBL diagnosis snv DTX3 missense E101D NM_178502 30-PAMNLH DTX3|ARHGEF25 MISSENSE|TSS-UPSTREAM SNP Somatic 9 0.303 SQHIGH 12 20 32 0 19 19 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 196403|115557 12 58000949 58000949 28 NBL diagnosis snv FRY missense P37A NM_023037 30-PAMNLH FRY MISSENSE SNP Somatic 19 0.941 SQHIGH 20 15 35 0 27 27 Cosmic_Gene C C G C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 10129 13 32653009 32653009 65 NBL diagnosis snv MYO16 splice_region M1125_E29splice_region NM_015011 30-PAMNLH MYO16 ACCEPTOR SNP Somatic 3 0.151 SQHIGH 11 37 48 0 28 28 Cosmic_Gene G G A G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 23026 13 109772709 109772709 24 NBL diagnosis snv COQ6 nonsense Y167* NM_182476 30-PAMNLH COQ6 NONSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD 11 0.374 SQHIGH 12 31 43 1 53 54 C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 51004 14 74424869 74424869 37 NBL diagnosis snv CIPC missense R316C NM_033426 30-PAMNLH CIPC MISSENSE SNP Somatic 15 0.633 SQHIGH 30 33 63 0 54 54 C C T C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 85457 14 77580407 77580407 99 NBL diagnosis snv DNAH3 missense P3215Q NM_017539 30-PAMNLH DNAH3 MISSENSE SNP Somatic PFAM:PF12781:AAA_9 6 0.219 SQHIGH 16 52 68 0 62 62 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 55567 16 20975562 20975562 49 NBL diagnosis snv PHOSPHO1 silent P37P NM_001143804 30-PAMNLH PHOSPHO1 SYNONYMOUS,ACCEPTOR SNP Somatic 0 0.110 SQHIGH 11 31 42 0 19 19 G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 162466 17 47302376 47302376 20 NBL diagnosis snv IMPA2 splice D164_E6splice NM_014214 30-PAMNLH IMPA2 DISRUPT SNP Somatic 16 0.708 SQHIGH 24 23 47 0 50 50 Cosmic_Gene A A C A A TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 3613 18 12028040 12028040 93 NBL diagnosis snv RBBP8 missense A741S NM_002894 30-PAMNLH RBBP8 MISSENSE SNP Somatic -1 0.099 SQHIGH 8 37 45 0 32 32 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 5932 18 20581626 20581626 20 NBL diagnosis snv FHOD3 missense S129A NM_025135 30-PAMNLH FHOD3 MISSENSE SNP Somatic -9 0.050 SQHIGH 5 33 38 0 31 31 Cosmic_Gene T T G T T TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 80206 18 34081942 34081942 14 NBL diagnosis snv CSNK1G2 missense L411P NM_001319 30-PAMNLH CSNK1G2 MISSENSE SNP Somatic 16 0.708 SQHIGH 14 8 22 1 40 41 Cosmic_Gene T T C T T TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 1455 19 1980186 1980186 70 NBL diagnosis snv MUC16 missense S10118Y NM_024690 30-PAMNLH MUC16 MISSENSE SNP Somatic 6 0.219 SQHIGH 16 38 54 0 73 73 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 94025 19 9057093 9057093 66 NBL diagnosis snv DMRTC2 missense S39A NM_001040283 30-PAMNLH LYPD4|DMRTC2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00751:DM -6 0.064 SQHIGH 3 22 25 0 46 46 Cosmic_Gene T T G T T TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 147719|63946 19 42351611 42351611 14 NBL diagnosis snv DMRTC2 missense P40A NM_001040283 30-PAMNLH LYPD4|DMRTC2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00751:DM -6 0.064 SQHIGH 4 24 28 0 48 48 Cosmic_Gene C C G C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 147719|63946 19 42351614 42351614 18 NBL diagnosis snv CBLC missense A240T NM_012116 30-PAMNLH CBLC MISSENSE SNP Somatic 7 0.248 SQHIGH 8 20 28 0 31 31 Cosmic_Gene G G A G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 23624 19 45285687 45285687 29 NBL diagnosis snv HIF3A missense D473Y NM_152794 30-PAMNLH HIF3A MISSENSE SNP Somatic 19 0.941 SQHIGH 14 11 25 0 38 38 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 64344 19 46828879 46828879 69 NBL diagnosis snv DZANK1 missense G522D NM_001099407 30-PAMNLH DZANK1 MISSENSE SNP Somatic 15 0.633 SQHIGH 27 25 52 1 55 56 C C T C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 55184 20 18377162 18377162 93 NBL diagnosis snv REM1 missense A257S NM_014012 30-PAMNLH LINC00028|REM1 TSS-UPSTREAM|MISSENSE SNP Somatic 6 0.219 SQHIGH 25 25 50 0 26 26 Cosmic_Gene G G T G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 140875|28954 20 30072105 30072105 58 NBL diagnosis snv TRPM2 silent T740T NM_003307 30-PAMNLH TRPM2 SYNONYMOUS,UTR SNP Somatic -8 0.054 SQHIGH 7 39 46 0 26 26 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 7226 21 45820153 45820153 14 NBL diagnosis snv COL6A2 splice_region K372_E12splice_region NM_001849 30-PAMNLH COL6A2 DONOR SNP Somatic 7 0.248 SQHIGH 15 35 50 0 35 35 Cosmic_Gene G G A G G TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 1292 21 47537855 47537855 39 NBL diagnosis snv CHEK2 silent V300V NM_007194 30-PAMNLH CHEK2 SYNONYMOUS SNP Somatic PFAM:PF03109:ABC1 3 0.151 SQHIGH 25 20 45 0 44 44 Cosmic_Gene A A C A A TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 11200 22 29099501 29099501 94 NBL diagnosis snv EDA2R splice_region C118_E5splice_region NM_021783 30-PAMNLH EDA2R ACCEPTOR SNP Somatic 7 0.248 SQHIGH 11 30 41 0 37 37 Cosmic_Gene C C A C C TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 60401 X 65822648 65822648 34 NBL diagnosis mnv VPS13B silent S2645S NM_152564 30-PAMNLH VPS13B SYNONYMOUS Sub Somatic PFAM:PF06650:DUF1162 3 0.830 SQHIGH 9 21 30 0 40 40 Cosmic_Gene TC TC AG TC TC TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 157680 8 100796696 100796697 37 NBL diagnosis snv PRDM16 missense R173C NM_022114 30-PANLET PRDM16 MISSENSE SNP Somatic PFAM:PF00856:SET 14 0.563 SQHIGH 18 22 40 0 40 40 Cosmic_Gene C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 63976 1 3301794 3301794 65 NBL diagnosis snv C1orf228 silent L231L NM_001145636 30-PANLET C1orf228 SYNONYMOUS SNP Somatic 13 0.491 SQHIGH 10 16 26 0 24 24 C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 339541 1 45169812 45169812 33 NBL diagnosis snv OVGP1 missense V569L NM_002557 30-PANLET OVGP1 MISSENSE SNP Somatic 17 0.822 SQHIGH 24 19 43 0 59 59 Cosmic_Gene C C A C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 5016 1 111957418 111957418 112 NBL diagnosis snv FLG missense G466E NM_002016 30-PANLET FLG MISSENSE SNP Somatic 11 0.387 SQHIGH 22 16 38 0 54 54 Cosmic_Gene C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 2312 1 152285965 152285965 106 NBL diagnosis snv RXRG silent P459P NM_006917 30-PANLET RXRG SYNONYMOUS SNP dbsnp.134:rs149087358 Somatic 2 0.151 SQHIGH 16 16 32 0 31 31 C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 6258 1 165370515 165370515 58 NBL diagnosis snv ILDR2 silent V377V NM_199351 30-PANLET ILDR2 SYNONYMOUS SNP Somatic 10 0.349 SQHIGH 12 16 28 0 26 26 Cosmic_Gene G G A G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 387597 1 166891910 166891910 41 NBL diagnosis snv RNF149 silent P373P NM_173647 30-PANLET RNF149 SYNONYMOUS SNP Somatic 15 0.639 SQHIGH 28 15 43 0 44 44 Cosmic_Gene G G T G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 284996 2 101898361 101898361 115 NBL diagnosis snv IL1A missense H27N NM_000575 30-PANLET IL1A MISSENSE SNP Somatic PFAM:PF02394:IL1_propep 11 0.387 SQHIGH 22 28 50 0 62 62 Cosmic_Gene G G T G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 3552 2 113540310 113540310 91 NBL diagnosis snv BAP1 missense R617S NM_004656 30-PANLET BAP1 MISSENSE SNP Somatic 0 0.124 SQHIGH 4 4 8 0 24 24 Cosmic_Gene C C G C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 8314 3 52437193 52437193 27 NBL diagnosis snv BAP1 missense V616A NM_004656 30-PANLET BAP1 MISSENSE SNP Somatic -1 0.115 SQHIGH 4 8 12 0 32 32 Cosmic_Gene A A G A A TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 8314 3 52437197 52437197 24 NBL diagnosis snv FGFR3 missense I201T NM_000142 30-PANLET FGFR3 MISSENSE SNP Somatic 6 0.229 SQHIGH 7 11 18 0 18 18 Cosmic_Gene T T C T T TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 2261 4 1803250 1803250 24 NBL diagnosis snv FGFR3 splice_region K205_E5splice_region NM_000142 30-PANLET FGFR3 DONOR SNP Somatic 2 0.151 SQHIGH 8 12 20 0 22 22 Cosmic_Gene G G C G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 2261 4 1803268 1803268 30 NBL diagnosis snv FRAS1 missense V2023F NM_025074 30-PANLET FRAS1 MISSENSE SNP Somatic 16 0.711 SQHIGH 17 16 33 1 34 35 Cosmic_Gene G G T G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 80144 4 79369263 79369263 55 NBL diagnosis snv C4orf36 missense A40G NM_144645 30-PANLET C4orf36 MISSENSE SNP Somatic 17 0.822 SQHIGH 16 19 36 0 32 32 G G C G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 132989 4 87809375 87809375 54 NBL diagnosis snv MCIDAS missense S349I NM_001190787 30-PANLET MCIDAS MISSENSE SNP Somatic 5 0.202 SQHIGH 16 20 36 0 39 39 C C A C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 345643 5 54516306 54516306 61 NBL diagnosis snv ISOC1 silent V69V NM_016048 30-PANLET MIR4633|ISOC1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 7 0.260 SQHIGH 16 17 33 0 23 23 G G T G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 100616175|51015 5 128430666 128430666 46 NBL diagnosis snv RFPL4B missense P176H NM_001013734 30-PANLET RFPL4B MISSENSE SNP Somatic PFAM:PF00622:SPRY 10 0.349 SQHIGH 39 47 86 0 58 58 C C A C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 442247 6 112671437 112671437 107 NBL diagnosis snv IPCEF1 nonsense Y391* NM_001130699 30-PANLET OPRM1|IPCEF1 INTRON|NONSENSE SNP Somatic 14 0.563 SQHIGH 16 13 29 0 20 20 Cosmic_Gene G G C G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 4988|26034 6 154481107 154481107 47 NBL diagnosis snv PHF10 missense D148H NM_018288 30-PANLET PHF10 MISSENSE SNP Somatic -3 0.097 SQHIGH 18 15 33 0 28 28 Cosmic_Gene C C G C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 55274 6 170116152 170116152 61 NBL diagnosis snv IQUB missense D402Y NM_178827 30-PANLET IQUB MISSENSE SNP Somatic 12 0.436 SQHIGH 18 25 43 0 25 25 Cosmic_Gene C C A C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 154865 7 123136780 123136780 43 NBL diagnosis snv TEX15 silent S1551S NM_031271 30-PANLET TEX15 SYNONYMOUS SNP Somatic 13 0.491 SQHIGH 36 21 57 1 38 39 Cosmic_Gene C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 56154 8 30701881 30701881 98 NBL diagnosis snv SH3GL2 missense H335L NM_003026 30-PANLET SH3GL2 MISSENSE SNP Somatic 7 0.260 SQHIGH 24 31 55 0 70 70 Cosmic_Gene A A T A A TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 6456 9 17795686 17795686 101 NBL diagnosis snv CACNA1B missense T133M NM_000718 30-PANLET CACNA1B|LOC100133077 MISSENSE|INTRON SNP Somatic 12 0.436 SQHIGH 17 27 44 0 48 48 Cosmic_Gene C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 774|100133077 9 140777203 140777203 63 NBL diagnosis snv NCAM1 missense E671G NM_000615 30-PANLET NCAM1 MISSENSE SNP Somatic PFAM:PF00041:fn3 1 0.137 SQHIGH 8 21 29 1 45 46 Cosmic_Gene A A G A A TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 4684 11 113130956 113130956 28 NBL diagnosis snv LOC102724050 EXON E2_exon NM_144594 30-PANLET GTSF1 INTRON SNP Somatic 14 0.563 SQHIGH 11 22 33 0 29 29 G G T G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 121355 12 54860797 54860797 34 NBL diagnosis snv FAM19A2 missense V28L NM_178539 30-PANLET FAM19A2 MISSENSE SNP Somatic 9 0.316 SQHIGH 14 11 25 0 18 18 Cosmic_Gene C C A C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 338811 12 62261125 62261125 42 NBL diagnosis snv PCDH9 missense S1081P NM_203487 30-PANLET PCDH9 MISSENSE SNP Somatic -9 0.063 SQHIGH 7 33 40 1 43 44 Cosmic_Gene A A G A A TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 5101 13 67205441 67205441 17 NBL diagnosis snv CLEC16A nonsense Q456* NM_015226 30-PANLET CLEC16A NONSENSE SNP Somatic 13 0.491 SQHIGH 18 22 40 1 35 36 Cosmic_Gene C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 23274 16 11114112 11114112 50 NBL diagnosis snv ZNF19 missense E326V NM_006961 30-PANLET ZNF19 MISSENSE SNP Somatic 8 0.286 SQHIGH 21 60 81 0 52 52 T T A T T TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 7567 16 71509473 71509473 50 NBL diagnosis snv MYO1C missense E111G NM_001080779 30-PANLET MYO1C MISSENSE SNP Somatic -8 0.067 SQHIGH 8 31 39 0 33 33 T T C T T TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 4641 17 1386919 1386919 23 NBL diagnosis snv PFAS splice G359_E10splice NM_012393 30-PANLET PFAS ACCEPTOR SNP Somatic 15 0.639 SQHIGH 22 21 43 1 37 38 Cosmic_Gene C C A C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 5198 17 8161122 8161122 64 NBL diagnosis snv MYH10 missense L218H NM_005964 30-PANLET MYH10 MISSENSE SNP Somatic 6 0.229 SQHIGH 18 14 32 1 29 30 Cosmic_Gene A A T A A TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 4628 17 8473111 8473111 55 NBL diagnosis snv GOSR1 missense D145Y NM_004871 30-PANLET GOSR1 MISSENSE SNP Somatic 7 0.260 SQHIGH 18 24 42 0 28 28 G G T G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 9527 17 28817228 28817228 48 NBL diagnosis snv WNK4 silent E559E NM_032387 30-PANLET WNK4 SYNONYMOUS SNP Somatic -1 0.115 SQHIGH 22 83 105 0 66 66 Cosmic_Gene G G A G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 65266 17 40939496 40939496 51 NBL diagnosis snv LPO missense A361S NM_006151 30-PANLET LPO MISSENSE,UTR SNP Somatic 4 0.183 SQHIGH 19 75 94 0 53 53 Cosmic_Gene G G T G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 4025 17 56329843 56329843 40 NBL diagnosis snv CEP192 missense R1568W NM_032142 30-PANLET CEP192 MISSENSE SNP Somatic 10 0.349 SQHIGH 19 19 38 0 18 18 Cosmic_Gene C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 55125 18 13068180 13068180 41 NBL diagnosis snv NCAN missense P1218L NM_004386 30-PANLET NCAN MISSENSE SNP Somatic -3 0.097 SQHIGH 17 18 35 0 48 48 Cosmic_Gene C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 1463 19 19359524 19359524 77 NBL diagnosis snv GGN missense G274D NM_152657 30-PANLET GGN|SPRED3 MISSENSE|TSS-UPSTREAM SNP Somatic -38 0.001 3 14 17 0 28 28 Cosmic_Gene C C T C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 199720|399473 19 38877081 38877081 13 NBL diagnosis snv ZNF575 missense P59H NM_174945 30-PANLET ZNF575 MISSENSE SNP Somatic 21 1.000 SQHIGH 20 19 39 0 42 42 C C A C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 284346 19 44039277 44039277 78 NBL diagnosis snv C21orf62-AS1 EXON E3_exon NM_001162495 30-PANLET C21orf62|C21orf49 INTRON|UTR SNP Somatic -1 0.115 SQHIGH 18 20 38 0 44 44 Cosmic_Gene T T G T T TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 56245|54067 21 34169732 34169732 72 NBL diagnosis snv RNF215 missense R298W NM_001017981 30-PANLET RNF215 MISSENSE SNP dbsnp.134:rs145777306 Somatic 19 0.943 SQHIGH 20 19 39 0 54 54 Cosmic_Gene G G A G G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 200312 22 30776167 30776167 92 NBL diagnosis snv RAB40A missense S6I NM_080879 30-PANLET RAB40A MISSENSE SNP Somatic -3 0.097 SQHIGH 4 10 14 0 32 32 C C A C C TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 142684 X 102755668 102755668 22 NBL diagnosis snv RAP2C-AS1 EXON E1_exon NM_018388 30-PANLET MBNL3|LOC100652838 INTRON|UTR SNP Somatic -9 0.063 SQHIGH 5 27 32 0 27 27 T T C T T TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 55796|100652838 X 131564149 131564149 14 NBL diagnosis snv PDZD4 missense E129G NM_032512 30-PANLET PDZD4 MISSENSE SNP Somatic -2 0.104 SQHIGH 5 17 22 1 39 40 Cosmic_Gene T T C T T TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 57595 X 153072735 153072735 17 NBL diagnosis complex C4orf36 frameshift L44fs NM_144645 30-PANLET C4orf36 FRAMESHIFT Sub Somatic -1 0.556 SQHIGH 19 25 44 0 43 43 CAA CAA CT CAA CAA TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 132989 4 87809362 87809364 67 NBL diagnosis snv MUL1 missense K273M NM_024544 30-PANNMS MUL1 MISSENSE SNP Somatic -23 0.011 4 13 17 0 26 26 T T A T T TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 79594 1 20827424 20827424 17 NBL diagnosis snv CSMD2 silent C2900C NM_001281956 30-PANNMS CSMD2 INTRON SNP Somatic 13 0.443 SQHIGH 29 26 55 0 44 44 Cosmic_Gene G G A G G TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 114784 1 34023377 34023377 94 NBL diagnosis snv VANGL1 nonsense Q415* NM_138959 30-PANNMS VANGL1 NONSENSE SNP Somatic PFAM:PF06638:Strabismus 13 0.443 SQHIGH 9 19 28 0 26 26 Cosmic_Gene C C T C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 81839 1 116228077 116228077 29 NBL diagnosis snv METTL11B splice_region G194_E3splice_region NM_001136107 30-PANNMS METTL11B INTRON SNP Somatic 10 0.300 SQHIGH 22 23 45 0 37 37 G G T G G TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 149281 1 170135902 170135902 71 NBL diagnosis snv BOC missense D762E NM_033254 30-PANNMS BOC MISSENSE SNP Somatic 13 0.443 SQHIGH 16 32 48 0 57 57 Cosmic_Gene C C G C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 91653 3 112999488 112999488 61 NBL diagnosis snv TBCCD1 silent L65L NM_001134415 30-PANNMS TBCCD1 SYNONYMOUS SNP Somatic -2 0.085 SQHIGH 7 29 36 0 47 47 Cosmic_Gene C C A C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 55171 3 186281924 186281924 27 NBL diagnosis snv AFM splice_region I46_E3splice_region NM_001133 30-PANNMS AFM ACCEPTOR SNP Somatic 1 0.115 SQHIGH 5 22 27 0 39 39 Cosmic_Gene G G T G G TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 173 4 74349971 74349971 20 NBL diagnosis snv BMP3 missense A130T NM_001201 30-PANNMS BMP3 MISSENSE SNP Somatic PFAM:PF00688:TGFb_propeptide 3 0.140 SQHIGH 7 27 34 0 43 43 Cosmic_Gene G G A G G TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 651 4 81966963 81966963 27 NBL diagnosis snv CLPTM1L splice A473_E16splice NM_030782 30-PANNMS CLPTM1L DISRUPT SNP Somatic 6 0.194 SQHIGH 16 34 50 0 43 43 Cosmic_Gene C C A C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 81037 5 1320847 1320847 49 NBL diagnosis snv ELP3 silent D445D NM_018091 30-PANNMS ELP3 SYNONYMOUS SNP dbsnp.134:rs146192185 Somatic -6 0.061 SQHIGH 7 38 45 0 42 42 C C T C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 55140 8 28017823 28017823 21 NBL diagnosis snv PPFIBP2 missense L243V NM_003621 30-PANNMS PPFIBP2 MISSENSE SNP Somatic PFAM:PF02920:Integrase_DNA 4 0.154 SQHIGH 17 62 79 1 49 50 Cosmic_Gene C C G C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 8495 11 7647023 7647023 30 NBL diagnosis snv LRRC55 missense G181E NM_001005210 30-PANNMS LRRC55 MISSENSE SNP Somatic 2 0.126 SQHIGH 13 41 54 0 29 29 G G A G G TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 219527 11 56949909 56949909 27 NBL diagnosis snv ZC3H10 nonsense K107* NM_032786 30-PANNMS ZC3H10|LOC100653008 NONSENSE|TSS-UPSTREAM SNP Somatic 15 0.600 SQHIGH 27 27 54 0 62 62 A A T A A TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 84872|100653008 12 56514665 56514665 110 NBL diagnosis snv SOHLH2 missense A356T NM_017826 30-PANNMS CCDC169-SOHLH2|SOHLH2 MISSENSE|MISSENSE SNP Somatic 20 1.000 SQHIGH 19 19 38 2 48 50 C C T C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 100526761|54937 13 36744859 36744859 63 NBL diagnosis snv ACTN1 silent E407E NM_001130004 30-PANNMS ACTN1 SYNONYMOUS SNP Somatic 19 0.938 SQHIGH 17 12 29 0 38 38 Cosmic_Gene C C T C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 87 14 69356869 69356869 78 NBL diagnosis snv MYO5C silent H408H NM_018728 30-PANNMS MYO5C SYNONYMOUS SNP Somatic 13 0.443 SQHIGH 16 30 46 0 57 57 Cosmic_Gene G G A G G TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 55930 15 52553148 52553148 64 NBL diagnosis snv C15orf39 missense G972S NM_015492 30-PANNMS C15orf39 MISSENSE SNP Somatic 10 0.300 SQHIGH 12 20 32 0 32 32 G G A G G TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 56905 15 75503227 75503227 42 NBL diagnosis snv ZNF500 missense L10P NM_021646 30-PANNMS ZNF500 MISSENSE SNP Somatic 7 0.217 SQHIGH 20 10 30 0 33 33 Cosmic_Gene A A G A A TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 26048 16 4815951 4815951 87 NBL diagnosis snv ZNF560 missense G746W NM_152476 30-PANNMS ZNF560 MISSENSE SNP Somatic 13 0.443 SQHIGH 9 17 26 0 41 41 Cosmic_Gene C C A C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 147741 19 9577387 9577387 41 NBL diagnosis snv BRSK1 silent V452V NM_032430 30-PANNMS BRSK1 SYNONYMOUS SNP Somatic -10 0.044 SQHIGH 4 11 15 0 16 16 Cosmic_Gene C C T C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 84446 19 55815927 55815927 14 NBL diagnosis snv FAM47C missense P404Q NM_001013736 30-PANNMS FAM47C MISSENSE SNP Somatic -4 0.071 SQHIGH 11 67 78 0 57 57 Cosmic_Gene C C A C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 442444 X 37027694 37027694 28 NBL diagnosis snv EFHC2 missense F74V NM_025184 30-PANNMS EFHC2 MISSENSE SNP Somatic 13 0.443 SQHIGH 17 26 43 0 43 43 Cosmic_Gene A A C A A TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 80258 X 44171825 44171825 60 NBL diagnosis snv FOXP3 splice_region K382_E11splice_region NM_014009 30-PANNMS FOXP3 DONOR SNP Somatic -4 0.071 SQHIGH 5 17 22 0 38 38 G G T G G TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 50943 X 49108119 49108119 23 NBL diagnosis snv ETV3 missense E401G NM_001145312 30-PANRVJ ETV3|CYCSP52 MISSENSE|TSS-UPSTREAM SNP Somatic 3 0.150 SQHIGH 13 38 51 0 39 39 T T C T T TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 2117|360155 1 157094970 157094970 35 NBL diagnosis snv FCRL3 splice_region E187_E6splice_region NM_052939 30-PANRVJ FCRL3 ACCEPTOR SNP Somatic 2 0.137 SQHIGH 12 51 63 0 66 66 Cosmic_Gene A A G A A TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 115352 1 157667221 157667221 40 NBL diagnosis snv SUCO missense S53N NM_016227 30-PANRVJ SUCO TSS-UPSTREAM SNP Somatic 14 0.540 SQHIGH 20 22 42 0 57 57 Cosmic_Gene G G A G G TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 51430 1 172501770 172501770 89 NBL diagnosis snv ALK missense F1174I NM_004304 30-PANRVJ ALK MISSENSE SNP Somatic 3 0.150 SQHIGH 10 38 48 0 50 50 Cosmic_Gene A A T A A TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 238 2 29443697 29443697 33 NBL diagnosis snv PASK splice I144_E4splice NM_015148 30-PANRVJ PASK DISRUPT SNP Somatic 13 0.469 SQHIGH 18 29 47 1 64 65 Cosmic_Gene T T G T T TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 23178 2 242079472 242079472 67 NBL diagnosis snv HIST1H2BG silent K17K NM_003518 30-PANRVJ HIST1H2BG|HIST1H2AE SYNONYMOUS|TSS-UPSTREAM SNP Somatic 4 0.167 SQHIGH 13 48 61 0 51 51 Cosmic_Gene C C T C C TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 8339|3012 6 26216821 26216821 37 NBL diagnosis snv HLA-DRB1 missense V73M NM_002124 30-PANRVJ HLA-DRB1 MISSENSE SNP dbsnp.134:rs150747106 Somatic PFAM:PF00969:MHC_II_beta -6 0.072 SQHIGH 5 14 19 0 26 26 Cosmic_Gene C C T C C TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 3123 6 32552039 32552039 20 NBL diagnosis snv SVEP1 missense P1586T NM_153366 30-PANRVJ SVEP1 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin 9 0.302 SQHIGH 10 15 25 0 19 19 Cosmic_Gene G G T G G TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 79987 9 113198668 113198668 29 NBL diagnosis snv MCMBP missense L482P NM_024834 30-PANRVJ MCMBP MISSENSE SNP Somatic PFAM:PF09739:DUF2044 -10 0.054 SQHIGH 5 27 32 0 37 37 Cosmic_Gene A A G A A TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 79892 10 121596511 121596511 17 NBL diagnosis snv WDR11 missense S172P NM_018117 30-PANRVJ WDR11 MISSENSE SNP Somatic -9 0.058 SQHIGH 4 22 26 0 33 33 T T C T T TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 55717 10 122619782 122619782 15 NBL diagnosis snv CCDC83 missense R117L NM_173556 30-PANRVJ CCDC83 MISSENSE SNP Somatic 7 0.250 SQHIGH 11 18 29 0 32 32 Cosmic_Gene G G T G G TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 220047 11 85597249 85597249 41 NBL diagnosis snv APOLD1 silent L55L NM_001130415 30-PANRVJ APOLD1 SYNONYMOUS SNP Somatic -3 0.088 SQHIGH 4 8 12 0 18 18 Cosmic_Gene G G T G G TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 81575 12 12939911 12939911 17 NBL diagnosis snv MCF2L missense A786T NM_001112732 30-PANRVJ MCF2L MISSENSE SNP Somatic 8 0.275 SQHIGH 18 70 88 0 59 59 Cosmic_Gene G G A G G TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 23263 13 113740546 113740546 44 NBL diagnosis snv SERPINA10 splice_region R331_E3splice_region NM_016186 30-PANRVJ SERPINA10 INTRON SNP Somatic 17 0.818 SQHIGH 13 20 33 1 57 58 Cosmic_Gene A A G A A TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 51156 14 94754615 94754615 55 NBL diagnosis snv KANSL1 silent A670A NM_015443 30-PANRVJ KANSL1 SYNONYMOUS SNP Somatic -10 0.054 SQHIGH 9 77 86 0 62 62 Cosmic_Gene T T C T T TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 284058 17 44127909 44127909 22 NBL diagnosis snv AP5S1 missense C21F NM_018347 30-PANRVJ AP5S1 MISSENSE SNP Somatic 12 0.418 SQHIGH 9 29 38 0 39 39 Cosmic_Gene G G T G G TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 55317 20 3802826 3802826 30 NBL diagnosis snv ATRX missense R2197C NM_000489 30-PANRVJ ATRX MISSENSE SNP Somatic -7 0.067 SQHIGH 3 1 4 0 5 5 Cosmic_Gene G A G TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 546 X 76813032 76813032 13 NBL diagnosis snv ADCY10 nonsense C832* NM_018417 30-PAPCTS ADCY10 NONSENSE SNP Somatic 7 0.231 SQHIGH 19 32 51 2 47 49 Cosmic_Gene A A T A A TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 55811 1 167815443 167815443 45 NBL diagnosis snv APLF missense E6G NM_173545 30-PAPCTS APLF|FBXO48 MISSENSE|TSS-UPSTREAM SNP Somatic -7 0.067 SQHIGH 6 22 28 0 45 45 Cosmic_Gene A A G A A TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 200558|554251 2 68694880 68694880 27 NBL diagnosis snv SPEG missense C1452F NM_005876 30-PAPCTS SPEG MISSENSE SNP Somatic PFAM:PF00047:ig 6 0.209 SQHIGH 10 32 42 0 44 44 Cosmic_Gene G G T G G TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 10290 2 220338533 220338533 34 NBL diagnosis snv CTTNBP2 missense D32G NM_033427 30-PAPCTS CTTNBP2 MISSENSE SNP Somatic PFAM:PF09727:CortBP2 -6 0.071 SQHIGH 5 28 33 0 55 55 Cosmic_Gene T T C T T TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 83992 7 117501357 117501357 22 NBL diagnosis snv EIF3E splice_region N199_E6splice_region NM_001568 30-PAPCTS EIF3E DONOR SNP Somatic -3 0.090 SQHIGH 6 18 24 1 30 31 Cosmic_Gene T T C T T TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 3646 8 109241295 109241295 17 NBL diagnosis snv MLANA missense C68R NM_005511 30-PAPCTS MLANA MISSENSE SNP Somatic 13 0.464 SQHIGH 10 17 27 0 22 22 T T C T T TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 2315 9 5906912 5906912 30 NBL diagnosis snv FRMPD1 silent D1113D NM_014907 30-PAPCTS FRMPD1 SYNONYMOUS SNP Somatic 5 0.187 SQHIGH 22 38 60 0 53 53 Cosmic_Gene C C T C C TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 22844 9 37745368 37745368 70 NBL diagnosis snv COL15A1 missense L489P NM_001855 30-PAPCTS COL15A1 MISSENSE SNP Somatic -2 0.097 SQHIGH 9 38 47 2 51 53 Cosmic_Gene T T C T T TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 1306 9 101777811 101777811 18 NBL diagnosis snv ENO4 missense K210N NM_001242699 30-PAPCTS ENO4 MISSENSE SNP Somatic -5 0.077 SQHIGH 4 12 16 0 32 32 Cosmic_Gene G G T G G TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 387712 10 118618645 118618645 20 NBL diagnosis snv ITGA2B silent P414P NM_000419 30-PAPCTS ITGA2B SYNONYMOUS SNP Somatic PFAM:PF01839:FG-GAP 3 0.152 SQHIGH 21 42 63 0 50 50 Cosmic_Gene G G A G G TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 3674 17 42458398 42458398 61 NBL diagnosis snv ACE missense T906N NM_000789 30-PAPCTS ACE MISSENSE SNP Somatic PFAM:PF01401:Peptidase_M2 5 0.187 SQHIGH 20 45 65 0 43 43 Cosmic_Gene C C A C C TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 1636 17 61568390 61568390 50 NBL diagnosis snv MUC16 missense E13695D NM_024690 30-PAPCTS MUC16 MISSENSE SNP Somatic PFAM:PF01390:SEA 17 0.827 SQHIGH 33 36 69 1 63 64 Cosmic_Gene T T G T T TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 94025 19 8996487 8996487 102 NBL diagnosis snv PDCD2L missense D149E NM_032346 30-PAPCTS PDCD2L MISSENSE SNP Somatic -8 0.062 SQHIGH 3 9 12 0 26 26 Cosmic_Gene T T G T T TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 84306 19 34900176 34900176 16 NBL diagnosis snv RYR1 splice_region M1939_E36splice_region NM_000540 30-PAPCTS RYR1 ACCEPTOR SNP Somatic -5 0.077 SQHIGH 3 16 19 0 31 31 Cosmic_Gene T T C T T TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 6261 19 38980709 38980709 13 NBL diagnosis snv SLC6A16 silent F141F NM_014037 30-PAPCTS SLC6A16|MIR4324 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF00209:SNF 10 0.317 SQHIGH 39 11 50 1 83 84 Cosmic_Gene G G A G G TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 28968|100422979 19 49813760 49813760 219 NBL diagnosis snv KIAA1755 silent T953T NM_001029864 30-PAPCTS KIAA1755 SYNONYMOUS SNP Somatic 10 0.317 SQHIGH 8 11 19 0 17 17 Cosmic_Gene C C T C C TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 85449 20 36845697 36845697 26 NBL diagnosis snv PMEPA1 missense V55M NM_020182 30-PAPCTS PMEPA1 MISSENSE SNP Somatic -9 0.058 SQHIGH 6 17 23 0 23 23 Cosmic_Gene C C T C C TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 56937 20 56234700 56234700 20 NBL diagnosis snv CABIN1 missense D1425N NM_012295 30-PAPCTS CABIN1 MISSENSE SNP Somatic 8 0.256 SQHIGH 28 37 65 0 52 52 Cosmic_Gene G G A G G TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 23523 22 24509688 24509688 86 NBL diagnosis snv MUM1L1 missense Y492N NM_152423 30-PAPCTS MUM1L1 MISSENSE SNP Somatic 13 0.464 SQHIGH 13 2 15 0 13 13 Cosmic_Gene T A T TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 139221 X 105450899 105450899 56 NBL diagnosis snv MUTYH silent Q379Q NM_001128425 30-PAPEAV MUTYH SYNONYMOUS SNP Somatic 11 0.406 SQHIGH 22 9 31 0 28 28 C C T C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 4595 1 45797382 45797382 86 NBL diagnosis snv ATF6 splice_region E602_E15splice_region NM_007348 30-PAPEAV ATF6 DONOR SNP Somatic 5 0.233 SQHIGH 8 30 38 0 38 38 Cosmic_Gene G G T G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 22926 1 161882175 161882175 26 NBL diagnosis snv NAT8 missense Q181K NM_003960 30-PAPEAV NAT8|ALMS1P MISSENSE|TSS-UPSTREAM SNP Somatic 10 0.370 SQHIGH 10 26 36 0 52 52 Cosmic_Gene G G T G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 9027|200420 2 73868215 73868215 42 NBL diagnosis snv TTN missense R27798I NM_133378 30-PAPEAV TTN|LOC100506866 MISSENSE|INTRON SNP Somatic -8 0.072 SQHIGH 6 37 43 0 51 51 Cosmic_Gene C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 7273|100506866 2 179416530 179416530 21 NBL diagnosis snv ZNF589 missense A140T NM_016089 30-PAPEAV ZNF589 MISSENSE SNP Somatic 11 0.406 SQHIGH 12 33 45 0 39 39 Cosmic_Gene G G A G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 51385 3 48309599 48309599 36 NBL diagnosis snv SLIT2 missense R1427K NM_004787 30-PAPEAV SLIT2 MISSENSE SNP Somatic -9 0.066 SQHIGH 4 19 23 0 40 40 Cosmic_Gene G G A G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 9353 4 20619205 20619205 18 NBL diagnosis snv DCHS2 nonsense S9* NM_017639 30-PAPEAV DCHS2 INTRON,NONSENSE SNP Somatic 21 1.000 SQHIGH 17 17 34 1 42 43 Cosmic_Gene G G T G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 54798 4 155312424 155312424 62 NBL diagnosis snv SLC22A7 silent P86P NM_006672 30-PAPEAV SLC22A7 SYNONYMOUS SNP Somatic -1 0.135 SQHIGH 10 36 46 0 47 47 C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 10864 6 43266354 43266354 33 NBL diagnosis snv TDRD6 missense S47I NM_001010870 30-PAPEAV TDRD6|LOC100131283 MISSENSE|TSS-UPSTREAM SNP Somatic -2 0.123 SQHIGH 7 33 40 0 20 20 Cosmic_Gene G G T G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 221400|100131283 6 46656005 46656005 13 NBL diagnosis snv MUC12 missense E4821G NM_001164462 30-PAPEAV MUC12 MISSENSE SNP Somatic 7 0.288 SQHIGH 26 60 86 0 59 59 A A G A A TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 10071 7 100648306 100648306 67 NBL diagnosis snv NOS3 missense Q888R NM_000603 30-PAPEAV NOS3 MISSENSE SNP Somatic PFAM:PF00175:NAD_binding_1 3 0.196 SQHIGH 7 21 28 0 28 28 Cosmic_Gene A A G A A TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 4846 7 150707353 150707353 23 NBL diagnosis snv LOC100996348 EXON E2_exon NM_005181 30-PAPEAV CA3 INTRON SNP Somatic 11 0.406 SQHIGH 9 25 34 0 46 46 C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 761 8 86354190 86354190 36 NBL diagnosis snv GRHL2 missense Q495K NM_024915 30-PAPEAV GRHL2 MISSENSE SNP Somatic 9 0.339 SQHIGH 7 23 30 0 44 44 Cosmic_Gene C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 79977 8 102644591 102644591 29 NBL diagnosis snv GPAA1 missense P115Q NM_003801 30-PAPEAV GPAA1 MISSENSE SNP Somatic 11 0.406 SQHIGH 24 12 36 0 49 49 C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 8733 8 145138381 145138381 119 NBL diagnosis snv PKN3 splice_region E138_E4splice_region NM_013355 30-PAPEAV PKN3 ACCEPTOR SNP Somatic 20 0.994 SQHIGH 16 22 38 0 38 38 Cosmic_Gene G G A G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 29941 9 131468982 131468982 57 NBL diagnosis snv PTPN11 missense E69K NM_002834 30-PAPEAV PTPN11 MISSENSE SNP Somatic 4 0.215 SQHIGH 11 28 39 0 29 29 COSMIC:mut:13013 Cosmic_Gene G G A G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 5781 12 112888189 112888189 30 NBL diagnosis snv KLHL1 silent P675P NM_020866 30-PAPEAV KLHL1 SYNONYMOUS SNP Somatic PFAM:PF01344:Kelch_1 19 0.943 SQHIGH 13 14 27 0 39 39 G G T G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 57626 13 70281919 70281919 60 NBL diagnosis snv MAX nonsense Q54* NM_002382 30-PAPEAV MAX|LOC100506321 NONSENSE|UTR SNP Somatic PFAM:PF00010:HLH 17 0.820 SQHIGH 23 12 35 0 47 47 Cosmic_Gene G G A G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 4149|100506321 14 65560437 65560437 112 NBL diagnosis snv C15orf27 missense E491D NM_152335 30-PAPEAV C15orf27 MISSENSE SNP Somatic 13 0.499 SQHIGH 19 30 49 0 66 66 G G T G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 123591 15 76496533 76496533 81 NBL diagnosis snv PTX4 missense A161S NM_001013658 30-PAPEAV PTX4 MISSENSE SNP Somatic 0 0.149 SQHIGH 9 19 28 0 26 26 C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 390667 16 1537617 1537617 29 NBL diagnosis snv IFT140 missense T1231M NM_014714 30-PAPEAV IFT140 MISSENSE SNP Somatic 3 0.196 SQHIGH 12 38 50 0 48 48 Cosmic_Gene G G A G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 9742 16 1570313 1570313 38 NBL diagnosis snv SBK1 silent I139I NM_001024401 30-PAPEAV SBK1 SYNONYMOUS SNP Somatic 1 0.162 SQHIGH 7 19 26 0 24 24 Cosmic_Gene C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 388228 16 28330506 28330506 22 NBL diagnosis snv CD19 missense E229D NM_001770 30-PAPEAV CD19 MISSENSE SNP Somatic PFAM:PF00047:ig 9 0.339 SQHIGH 13 23 36 1 39 40 Cosmic_Gene G G T G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 930 16 28944682 28944682 39 NBL diagnosis snv SHISA6 nonsense S340* NM_207386 30-PAPEAV SHISA6 NONSENSE SNP Somatic -7 0.078 SQHIGH 6 43 49 0 50 50 Cosmic_Gene C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 388336 17 11459123 11459123 19 NBL diagnosis snv LYZL6 missense Y140H NM_020426 30-PAPEAV LYZL6|RDM1 MISSENSE|TSS-UPSTREAM SNP Somatic -6 0.087 SQHIGH 9 33 42 0 34 34 Cosmic_Gene A A G A A TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 57151|201299 17 34261829 34261829 25 NBL diagnosis snv RFX2 missense Q98H NM_000635 30-PAPEAV RFX2 MISSENSE SNP Somatic PFAM:PF04589:RFX1_trans_act 2 0.178 SQHIGH 8 16 24 0 29 29 Cosmic_Gene C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 5990 19 6040219 6040219 31 NBL diagnosis snv ACP5 missense F75Y NM_001111035 30-PAPEAV ACP5 MISSENSE SNP Somatic PFAM:PF00149:Metallophos 8 0.313 SQHIGH 8 28 36 1 51 52 Cosmic_Gene A A T A A TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 54 19 11687909 11687909 25 NBL diagnosis snv ZNF534 silent G388G NM_001143938 30-PAPEAV ZNF534 SYNONYMOUS SNP Somatic 14 0.567 SQHIGH 20 27 47 0 40 40 C C A C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 147658 19 52941877 52941877 64 NBL diagnosis snv FIGF missense H186N NM_004469 30-PAPEAV FIGF|PIR-FIGF MISSENSE|UTR SNP Somatic 18 0.872 SQHIGH 11 12 23 0 35 35 Cosmic_Gene G G T G G TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 2277|100532742 X 15373357 15373357 52 NBL diagnosis complex SETD1A frameshift L795_A796fs NM_014712 30-PAPEAV SETD1A FRAMESHIFT Sub Somatic -7 0.345 SQHIGH 8 19 27 1 39 40 Cosmic_Gene TCG TCG TGGT TCG TCG TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 9739 16 30977586 30977588 27 NBL diagnosis snv HYDIN missense N5058H NM_001270974 30-PAPICY HYDIN MISSENSE SNP Somatic -7 0.064 SQHIGH 6 31 37 0 45 45 Cosmic_Gene T T G T T TARGET-30-PAPICY-01A-01D TARGET-30-PAPICY-10A-01D 54768 16 70841677 70841677 22 NBL diagnosis snv MYOM3 splice R657_E17splice NM_152372 30-PAPKXS MYOM3 DISRUPT SNP Somatic 4 0.182 SQHIGH 14 59 73 0 66 66 Cosmic_Gene C C T C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 127294 1 24409205 24409205 42 NBL diagnosis snv TBX15 missense Q234L NM_152380 30-PAPKXS TBX15 MISSENSE SNP Somatic 11 0.381 SQHIGH 11 20 31 0 31 31 Cosmic_Gene T T A T T TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 6913 1 119441656 119441656 38 NBL diagnosis snv PAPPA2 silent A930A NM_020318 30-PAPKXS PAPPA2 SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 18 20 38 0 34 34 Cosmic_Gene C C T C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 60676 1 176668279 176668279 61 NBL diagnosis snv AVPR1B missense R364C NM_000707 30-PAPKXS AVPR1B MISSENSE SNP Somatic 5 0.200 SQHIGH 15 21 36 1 26 27 Cosmic_Gene C C T C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 553 1 206230957 206230957 34 NBL diagnosis snv OR2G2 missense L50M NM_001001915 30-PAPKXS OR2G2 MISSENSE SNP Somatic 4 0.182 SQHIGH 24 48 72 0 52 52 C C A C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 81470 1 247751809 247751809 65 NBL diagnosis snv LTBP1 missense D1185Y NM_206943 30-PAPKXS LTBP1 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 6 0.231 SQHIGH 8 26 34 0 25 25 Cosmic_Gene G G T G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 4052 2 33534572 33534572 21 NBL diagnosis snv WBP1 missense G260V NM_012477 30-PAPKXS INO80B-WBP1|WBP1 UTR|MISSENSE SNP Somatic 7 0.259 SQHIGH 16 49 65 0 46 46 G G T G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 100532735|23559 2 74687777 74687777 41 NBL diagnosis snv DNAH7 silent S1808S NM_018897 30-PAPKXS DNAH7 SYNONYMOUS SNP Somatic 17 0.822 SQHIGH 18 16 34 0 32 32 Cosmic_Gene G G T G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 56171 2 196750979 196750979 65 NBL diagnosis snv KIAA2012 nonsense E418* NM_001277372 30-PAPKXS KIAA2012 NONSENSE SNP Somatic 1 0.134 SQHIGH 6 28 34 0 42 42 G G T G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 100652824 2 202967765 202967765 22 NBL diagnosis snv PTPRN missense V953F NM_002846 30-PAPKXS PTPRN MISSENSE SNP Somatic 14 0.548 SQHIGH 31 41 72 0 68 68 Cosmic_Gene C C A C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 5798 2 220155271 220155271 107 NBL diagnosis snv CASR splice_region D578_E7splice_region NM_000388 30-PAPKXS CASR ACCEPTOR SNP Somatic 1 0.134 SQHIGH 11 37 48 0 51 51 Cosmic_Gene C C T C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 846 3 122002524 122002524 37 NBL diagnosis snv TF silent P602P NM_001063 30-PAPKXS TF SYNONYMOUS SNP Somatic PFAM:PF00405:Transferrin 9 0.311 SQHIGH 29 28 57 1 43 44 Cosmic_Gene G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 7018 3 133494395 133494395 78 NBL diagnosis snv PLSCR4 missense P297L NM_020353 30-PAPKXS PLSCR4 MISSENSE,UTR SNP Somatic PFAM:PF03803:Scramblase 20 0.980 SQHIGH 20 18 38 0 39 39 G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 57088 3 145912966 145912966 76 NBL diagnosis snv BMP3 silent A305A NM_001201 30-PAPKXS BMP3 SYNONYMOUS SNP Somatic 9 0.311 SQHIGH 16 32 48 1 59 60 Cosmic_Gene A A T A A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 651 4 81967490 81967490 53 NBL diagnosis snv GPRIN3 missense H393Q NM_198281 30-PAPKXS GPRIN3 MISSENSE SNP Somatic 10 0.343 SQHIGH 29 27 56 0 41 41 Cosmic_Gene G G C G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 285513 4 90170083 90170083 88 NBL diagnosis snv IL21 splice K146N NM_021803 30-PAPKXS IL21 MISSENSE SNP Somatic PFAM:PF02372:IL15 8 0.284 SQHIGH 10 15 25 1 23 24 C C A C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 59067 4 123534006 123534006 25 NBL diagnosis snv FYB missense E815D NM_001465 30-PAPKXS FYB MISSENSE SNP Somatic 11 0.381 SQHIGH 8 11 19 0 24 24 Cosmic_Gene C C A C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 2533 5 39108355 39108355 33 NBL diagnosis snv KIAA1024L missense K59N NM_001257308 30-PAPKXS SNP Somatic 16 0.703 SQHIGH 11 18 29 0 33 33 G G T G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 5 129096082 129096082 42 NBL diagnosis snv HSPA4 missense P835R NM_002154 30-PAPKXS HSPA4 MISSENSE SNP Somatic 16 0.703 SQHIGH 21 25 46 0 24 24 Cosmic_Gene C C G C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 3308 5 132440109 132440109 47 NBL diagnosis snv GALNT10 silent S172S NM_198321 30-PAPKXS GALNT10 SYNONYMOUS SNP dbsnp.134:rs138449388 Somatic 12 0.424 SQHIGH 24 27 51 1 56 57 Cosmic_Gene G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 55568 5 153709246 153709246 82 NBL diagnosis snv TAPBP silent T160T NM_003190 30-PAPKXS TAPBP SYNONYMOUS SNP Somatic 12 0.424 SQHIGH 18 25 43 0 39 39 Cosmic_Gene A A G A A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 6892 6 33273154 33273154 60 NBL diagnosis snv CDHR3 silent D489D NM_152750 30-PAPKXS CDHR3 SYNONYMOUS SNP Somatic 8 0.284 SQHIGH 21 62 83 0 41 41 Cosmic_Gene C C T C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 222256 7 105658332 105658332 41 NBL diagnosis snv NUP205 missense E1844V NM_015135 30-PAPKXS NUP205 MISSENSE SNP Somatic 15 0.633 SQHIGH 72 10 82 0 43 43 Cosmic_Gene A A T A A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 23165 7 135328078 135328078 235 NBL diagnosis snv ZNF786 silent V632V NM_152411 30-PAPKXS ZNF786 SYNONYMOUS SNP Somatic 10 0.343 SQHIGH 47 15 62 0 26 26 Cosmic_Gene C C A C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 136051 7 148767968 148767968 114 NBL diagnosis snv ANK1 missense H409Y NM_020476 30-PAPKXS ANK1 MISSENSE SNP Somatic 17 0.822 SQHIGH 15 13 28 0 22 22 Cosmic_Gene G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 286 8 41575202 41575202 48 NBL diagnosis snv GLIS3 silent H561H NM_001042413 30-PAPKXS GLIS3 SYNONYMOUS SNP Somatic -7 0.072 SQHIGH 3 12 15 0 35 35 Cosmic_Gene G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 169792 9 4117795 4117795 16 NBL diagnosis snv OTUD1 missense R254M NM_001145373 30-PAPKXS OTUD1 MISSENSE SNP Somatic 5 0.200 SQHIGH 11 3 14 0 29 29 Cosmic_Gene G G T G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 220213 10 23729147 23729147 72 NBL diagnosis snv MYO3A silent R675R NM_017433 30-PAPKXS MYO3A SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 7 15 22 0 26 26 Cosmic_Gene A A C A A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 53904 10 26414446 26414446 26 NBL diagnosis snv MYPN silent P649P NM_032578 30-PAPKXS MYPN SYNONYMOUS SNP Somatic 16 0.703 SQHIGH 20 25 45 0 61 61 Cosmic_Gene C C A C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 84665 10 69926397 69926397 88 NBL diagnosis snv LIPM missense S223I NM_001128215 30-PAPKXS LIPM MISSENSE SNP Somatic 8 0.284 SQHIGH 9 7 16 0 37 37 Cosmic_Gene G G T G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 340654 10 90574938 90574938 56 NBL diagnosis snv CCDC88B splice_region L274_E8splice_region NM_032251 30-PAPKXS CCDC88B DONOR SNP Somatic -7 0.072 SQHIGH 8 33 41 2 49 51 Cosmic_Gene A A G A A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 283234 11 64109615 64109615 17 NBL diagnosis snv PGM2L1 missense L464P NM_173582 30-PAPKXS PGM2L1 MISSENSE SNP Somatic 20 0.980 SQHIGH 22 12 34 0 42 42 Cosmic_Gene A A G A A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 283209 11 74053981 74053981 101 NBL diagnosis snv CCDC89 missense R13W NM_152723 30-PAPKXS CCDC89 MISSENSE SNP Somatic 6 0.231 SQHIGH 17 14 31 0 30 30 T T A T T TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 220388 11 85397137 85397137 63 NBL diagnosis snv ROBO3 splice D1266_E25splice NM_022370 30-PAPKXS ROBO3 MISSENSE SNP Somatic 12 0.424 SQHIGH 17 23 40 0 33 33 Cosmic_Gene G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 64221 11 124749471 124749471 53 NBL diagnosis snv ARHGAP32 missense P953S NM_001142685 30-PAPKXS ARHGAP32 MISSENSE SNP Somatic 15 0.633 SQHIGH 38 45 83 0 78 78 Cosmic_Gene G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 9743 11 128844193 128844193 133 NBL diagnosis snv ENDOU missense G48R NM_001172439 30-PAPKXS ENDOU INTRON,MISSENSE SNP Somatic PFAM:PF01033:Somatomedin_B -1 0.112 SQHIGH 10 42 52 0 29 29 Cosmic_Gene C C T C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 8909 12 48114572 48114572 21 NBL diagnosis snv KRT79 missense R143Q NM_175834 30-PAPKXS KRT79 MISSENSE SNP Somatic PFAM:PF00038:Filament 6 0.231 SQHIGH 22 43 65 0 55 55 Cosmic_Gene C C T C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 338785 12 53227617 53227617 67 NBL diagnosis snv ANKRD52 splice L569_E17splice NM_173595 30-PAPKXS ANKRD52 ACCEPTOR SNP Somatic 12 0.424 SQHIGH 63 36 99 0 72 72 Cosmic_Gene G G T G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 283373 12 56642353 56642353 206 NBL diagnosis snv N4BP2L1 silent P113P NM_052818 30-PAPKXS N4BP2L1 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 15 0.633 SQHIGH 20 23 43 0 43 43 Cosmic_Gene G G C G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 90634 13 32981444 32981444 73 NBL diagnosis snv NEK5 missense E44V NM_199289 30-PAPKXS NEK5 MISSENSE SNP Somatic 3 0.164 SQHIGH 11 15 26 0 37 37 Cosmic_Gene T T A T T TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 341676 13 52693538 52693538 49 NBL diagnosis snv MGA missense T2239A NM_001164273 30-PAPKXS MGA MISSENSE SNP Somatic 9 0.311 SQHIGH 34 26 60 1 48 49 Cosmic_Gene A A G A A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 23269 15 42042520 42042520 101 NBL diagnosis snv USP3 missense E275A NM_006537 30-PAPKXS USP3 MISSENSE SNP Somatic PFAM:PF00443:UCH 16 0.703 SQHIGH 24 18 42 0 38 38 Cosmic_Gene A A C A A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 9960 15 63862694 63862694 87 NBL diagnosis snv ANKS4B missense G56V NM_145865 30-PAPKXS ANKS4B MISSENSE SNP Somatic PFAM:PF12796:Ank_2 12 0.424 SQHIGH 32 27 59 0 62 62 Cosmic_Gene G G T G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 257629 16 21261054 21261054 126 NBL diagnosis snv KIF2B silent S104S NM_032559 30-PAPKXS KIF2B SYNONYMOUS SNP Somatic 5 0.200 SQHIGH 20 72 92 0 42 42 Cosmic_Gene G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 84643 17 51900706 51900706 36 NBL diagnosis snv TRIM47 missense A368T NM_033452 30-PAPKXS TRIM47 MISSENSE SNP Somatic -4 0.088 SQHIGH 24 108 132 0 62 62 Cosmic_Gene C C T C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 91107 17 73872081 73872081 43 NBL diagnosis snv MAP2K7 missense T103M NM_145185 30-PAPKXS MAP2K7 MISSENSE SNP Somatic 14 0.548 SQHIGH 11 27 38 1 37 38 Cosmic_Gene C C T C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 5609 19 7974989 7974989 28 NBL diagnosis snv ZNF653 missense A341G NM_138783 30-PAPKXS ZNF653 MISSENSE SNP Somatic -9 0.063 SQHIGH 4 17 21 0 27 27 G G C G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 115950 19 11598256 11598256 15 NBL diagnosis snv NCAN missense A654T NM_004386 30-PAPKXS NCAN MISSENSE SNP Somatic 16 0.703 SQHIGH 19 20 39 0 46 46 Cosmic_Gene G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 1463 19 19338389 19338389 78 NBL diagnosis snv URI1 silent E118E NM_003796 30-PAPKXS URI1 SYNONYMOUS SNP Somatic 12 0.424 SQHIGH 17 15 32 0 30 30 Cosmic_Gene G G A G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 8725 19 30477311 30477311 61 NBL diagnosis snv ICOSLG silent L8L NM_015259 30-PAPKXS ICOSLG SYNONYMOUS SNP Somatic -4 0.088 SQHIGH 23 13 36 1 52 53 C C A C C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 23308 21 45658362 45658362 104 NBL diagnosis snv EIF4ENIF1 silent S342S NM_019843 30-PAPKXS EIF4ENIF1 SYNONYMOUS SNP Somatic 16 0.703 SQHIGH 11 11 22 0 28 28 Cosmic_Gene A A C A A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 56478 22 31851911 31851911 47 NBL diagnosis snv PPP1R3F silent N703N NM_033215 30-PAPKXS PPP1R3F SYNONYMOUS SNP Somatic -8 0.067 SQHIGH 7 19 26 3 63 66 Cosmic_Gene T T C T T TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 89801 X 49143261 49143261 23 NBL diagnosis snv LAMP2 silent L282L NM_002294 30-PAPKXS LAMP2 SYNONYMOUS SNP Somatic PFAM:PF01299:Lamp 18 0.875 SQHIGH 22 2 24 0 55 55 Cosmic_Gene T T A T T TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 3920 X 119580178 119580178 169 NBL diagnosis snv SAGE1 silent T579T NM_018666 30-PAPKXS SAGE1 SYNONYMOUS SNP Somatic -10 0.059 SQHIGH 4 15 19 1 57 58 Cosmic_Gene T T C T T TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 55511 X 134992202 134992202 19 NBL diagnosis mnv RELN missense A3317R NM_005045 30-PAPKXS RELN MISSENSE Sub Somatic -5 0.375 SQHIGH 69 22 91 0 49 49 Cosmic_Gene GC GC CT GC GC TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 5649 7 103126677 103126678 201 NBL diagnosis mnv GPR20 missense A169S NM_005293 30-PAPKXS GPR20 MISSENSE Sub Somatic PFAM:PF00001:7tm_1 4 0.917 SQHIGH 19 8 27 0 30 30 Cosmic_Gene GC GC CT GC GC TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 2843 8 142367518 142367519 85 NBL diagnosis mnv IL1RAPL1 missense R626H NM_014271 30-PAPKXS IL1RAPL1 MISSENSE Sub Somatic 6 1.000 SQHIGH 35 4 39 0 67 67 Cosmic_Gene GA GA AT GA GA TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 11141 X 29973723 29973724 232 NBL diagnosis snv PHACTR4 missense S410C NM_001048183 30-PAPSEI PHACTR4 MISSENSE SNP Somatic -5 0.074 SQHIGH 4 37 41 0 61 61 C C G C C TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 65979 1 28800471 28800471 16 NBL diagnosis snv SLC45A3 missense L260M NM_033102 30-PAPSEI SLC45A3 MISSENSE SNP Somatic 5 0.193 SQHIGH 15 36 51 1 50 51 Cosmic_Gene G G T G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 85414 1 205632141 205632141 40 NBL diagnosis snv PUS10 nonsense E359* NM_144709 30-PAPSEI PUS10 NONSENSE SNP Somatic 14 0.620 SQHIGH 27 29 56 0 85 85 Cosmic_Gene C C A C C TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 150962 2 61181276 61181276 130 NBL diagnosis snv SOX17 missense A190P NM_022454 30-PAPSEI SOX17 MISSENSE SNP Somatic 1 0.126 SQHIGH 14 7 21 0 27 27 Cosmic_Gene G G C G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 64321 8 55371878 55371878 66 NBL diagnosis snv OC90 missense H430Q NM_001080399 30-PAPSEI OC90 MISSENSE SNP Somatic -5 0.074 SQHIGH 10 40 50 2 53 55 Cosmic_Gene G G C G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 729330 8 133036872 133036872 20 NBL diagnosis snv OC90 missense L429P NM_001080399 30-PAPSEI OC90 MISSENSE SNP Somatic -5 0.074 SQHIGH 11 43 54 2 51 53 Cosmic_Gene A A G A A TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 729330 8 133036876 133036876 21 NBL diagnosis snv TYSND1 silent Q555Q NM_173555 30-PAPSEI TYSND1 UTR3,SYNONYMOUS SNP Somatic 4 0.174 SQHIGH 14 43 57 1 60 61 Cosmic_Gene C C T C C TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 219743 10 71899716 71899716 39 NBL diagnosis snv KCNK18 missense V125I NM_181840 30-PAPSEI KCNK18 MISSENSE SNP dbsnp.134:rs141958329 Somatic PFAM:PF07885:Ion_trans_2 2 0.140 SQHIGH 35 58 93 1 103 104 Cosmic_Gene G G A G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 338567 10 118969028 118969028 118 NBL diagnosis snv SFXN4 missense Q309H NM_213649 30-PAPSEI SFXN4 MISSENSE SNP Somatic PFAM:PF03820:Mtc 5 0.193 SQHIGH 16 49 65 0 75 75 Cosmic_Gene C C A C C TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 119559 10 120905757 120905757 58 NBL diagnosis snv TMPRSS4 missense D225E NM_019894 30-PAPSEI TMPRSS4 MISSENSE SNP Somatic 12 0.476 SQHIGH 36 36 72 0 84 84 Cosmic_Gene C C A C C TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 56649 11 117982547 117982547 148 NBL diagnosis snv ANO2 silent T714T NM_001278596 30-PAPSEI ANO2 SYNONYMOUS SNP Somatic PFAM:PF04547:Anoctamin 3 0.155 SQHIGH 9 40 49 0 57 57 Cosmic_Gene G G A G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 57101 12 5708756 5708756 32 NBL diagnosis snv FLRT2 missense R646G NM_013231 30-PAPSEI FLRT2 MISSENSE SNP Somatic 17 0.879 SQHIGH 14 19 33 0 36 36 Cosmic_Gene C C G C C TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 23768 14 86089794 86089794 53 NBL diagnosis snv SPTBN5 splice_region K2383_E41splice_region NM_016642 30-PAPSEI SPTBN5 DONOR SNP Somatic 10 0.368 SQHIGH 55 72 127 0 106 106 Cosmic_Gene G G T G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 51332 15 42155898 42155898 175 NBL diagnosis snv CREBBP nonsense R1341* NM_004380 30-PAPSEI CREBBP NONSENSE SNP Somatic -12 0.043 9 60 69 0 64 64 COSMIC:mut:79348 Cosmic_Gene G G A G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 1387 16 3790512 3790512 27 NBL diagnosis snv SLC12A3 splice_region L816_E21splice_region NM_000339 30-PAPSEI SLC12A3 ACCEPTOR SNP Somatic -8 0.058 SQHIGH 7 45 52 1 71 72 Cosmic_Gene G G T G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 6559 16 56926861 56926861 20 NBL diagnosis snv PEMT splice G156_E5splice NM_148172 30-PAPSEI PEMT ACCEPTOR SNP Somatic 2 0.140 SQHIGH 30 115 145 0 146 146 G G T G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 10400 17 17412862 17412862 98 NBL diagnosis snv MRPS23 splice_region Q141_E5splice_region NM_016070 30-PAPSEI MRPS23 ACCEPTOR SNP Somatic 3 0.155 SQHIGH 26 54 80 0 63 63 G G T G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 51649 17 55917304 55917304 75 NBL diagnosis snv LILRB1 missense V419I NM_006669 30-PAPSEI LILRB1 MISSENSE SNP Somatic PFAM:PF00047:ig -9 0.054 SQHIGH 12 78 90 0 95 95 Cosmic_Gene G G A G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 10859 19 55144763 55144763 39 NBL diagnosis snv SUV39H1 silent G171G NM_003173 30-PAPSEI SUV39H1 SYNONYMOUS SNP Somatic PFAM:PF05033:Pre-SET 10 0.368 SQHIGH 40 45 85 0 92 92 C C A C C TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 6839 X 48558829 48558829 155 NBL diagnosis snv SLC6A14 silent V54V NM_007231 30-PAPSEI SLC6A14 SYNONYMOUS SNP Somatic PFAM:PF00209:SNF 12 0.476 SQHIGH 22 21 43 1 48 49 Cosmic_Gene G G T G G TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 11254 X 115569071 115569071 77 NBL diagnosis mnv MAP2 missense A1820E NM_002374 30-PAPSEI MAP2 MISSENSE Sub Somatic -23 0.126 7 30 37 1 42 43 Cosmic_Gene CT CT AG CT CT TARGET-30-PAPSEI-01A-01D TARGET-30-PAPSEI-10A-01D 4133 2 210595096 210595097 18 NBL diagnosis snv OR14A16 silent K225K NM_001001966 30-PAPSKM OR14A16 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 7 0.378 SQHIGH 13 16 29 0 26 26 C C T C C TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 284532 1 247978357 247978357 Somatic Illumina 43 52512 34078 86617 75479 63 75557 NBL diagnosis snv FMNL2 splice_region K95_E4splice_region NM_052905 30-PAPSKM FMNL2 ACCEPTOR SNP Somatic 3 0.226 SQHIGH 5 18 23 0 29 29 Cosmic_Gene T T G T T TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 114793 2 153405529 153405529 19 NBL diagnosis snv LAMB2 splice V1409_E27splice NM_002292 30-PAPSKM USP19|LAMB2 TSS-UPSTREAM|DISRUPT SNP Somatic 4 0.253 SQHIGH 12 8 20 0 29 29 Cosmic_Gene C C A C C TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 10869|3913 3 49160486 49160486 Somatic Illumina 59 66217 23987 90250 98224 6 98255 NBL diagnosis snv GIMD1 missense S36N NM_001195138 30-PAPSKM GIMD1 MISSENSE SNP Somatic PFAM:PF02263:GBP 5 0.283 SQHIGH 13 27 40 0 27 27 C C T C C TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 100507096 4 107288486 107288486 Somatic Illumina 33 91219 16811 108034 111258 99 111368 NBL diagnosis snv DNAH5 missense E2693V NM_001369 30-PAPSKM DNAH5 MISSENSE SNP Somatic PFAM:PF00485:PRK 9 0.453 SQHIGH 13 28 41 0 58 58 Cosmic_Gene T T A T T TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 1767 5 13793770 13793770 Somatic Illumina 55 41869 13452 55420 56573 6 56673 NBL diagnosis snv MRPS27 splice G232_E9splice NM_015084 30-PAPSKM MRPS27 DISRUPT SNP Somatic 8 0.415 SQHIGH 27 43 70 0 46 46 C C T C C TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 23107 5 71522027 71522027 Somatic Illumina 70 57745 31972 90114 93918 65 94415 NBL diagnosis snv MRPS27 splice_region G232_E9splice_region NM_015084 30-PAPSKM MRPS27 ACCEPTOR SNP Somatic 7 0.378 SQHIGH 28 44 72 0 45 45 G G A G G TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 23107 5 71522032 71522032 Somatic Sanger 70 0 0 0 0 0 0 NBL diagnosis snv GLI3 silent G727G NM_000168 30-PAPSKM GLI3 SYNONYMOUS SNP Somatic 5 0.283 SQHIGH 9 26 35 0 23 23 Cosmic_Gene C C T C C TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 2737 7 42007444 42007444 Somatic Illumina 22 19265 3774 23042 24045 17 24067 NBL diagnosis snv HR missense H464Q NM_005144 30-PAPSKM HR MISSENSE SNP Somatic 0 0.160 SQHIGH 5 16 21 0 16 16 Cosmic_Gene A A C A A TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 55806 8 21984563 21984563 13 NBL diagnosis snv OMD missense S347N NM_005014 30-PAPSKM OMD|CENPP MISSENSE|INTRON SNP Somatic -1 0.142 SQHIGH 5 8 13 0 13 13 Cosmic_Gene C C T C C TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 4958|401541 9 95177660 95177660 17 NBL diagnosis snv OMD silent L342L NM_005014 30-PAPSKM OMD|CENPP SYNONYMOUS|INTRON SNP Somatic -9 0.064 SQHIGH 5 5 10 0 16 16 Cosmic_Gene T T C T T TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 4958|401541 9 95177674 95177674 24 NBL diagnosis snv OR56A3 silent T197T NM_001003443 30-PAPSKM OR56A3 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 4 0.253 SQHIGH 17 45 62 0 52 52 C C A C C TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 390083 11 5969167 5969167 Somatic Illumina 50 90448 22948 113527 119624 46 119771 NBL diagnosis snv OR5L1 nonsense *312Y NM_001004738 30-PAPSKM OR5L1 NONSTOP SNP Somatic 6 0.339 SQHIGH 13 33 46 2 51 53 Cosmic_Gene G G T G G TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 219437 11 55579878 55579878 Somatic Illumina 31 23718 5589 29329 32546 4 32572 NBL diagnosis snv MUC16 missense P10458H NM_024690 30-PAPSKM MUC16 MISSENSE SNP Somatic -10 0.059 SQHIGH 11 45 56 0 58 58 Cosmic_Gene G G T G G TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 94025 19 9054249 9054249 36 NBL diagnosis snv PLXNB2 missense L446P NM_012401 30-PAPSKM PLXNB2 MISSENSE SNP Somatic 2 0.200 SQHIGH 12 46 58 0 62 62 Cosmic_Gene A A G A A TARGET-30-PAPSKM-01A-01D TARGET-30-PAPSKM-10A-01D 23654 22 50727215 50727215 Somatic Illumina 41 112727 21233 133970 145622 189 145823 NBL diagnosis snv CA6 missense N208K NM_001215 30-PAPTAN CA6 MISSENSE SNP Somatic 14 0.615 SQHIGH 12 22 34 0 32 32 Cosmic_Gene C C G C C TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 765 1 9027770 9027770 40 NBL diagnosis snv TCEA3 missense M297I NM_003196 30-PAPTAN TCEA3 MISSENSE SNP Somatic -2 0.122 SQHIGH 9 41 50 0 39 39 C C A C C TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 6920 1 23713841 23713841 24 NBL diagnosis snv R3HDM1 missense L459I NM_015361 30-PAPTAN R3HDM1 MISSENSE SNP Somatic 16 0.763 SQHIGH 12 17 29 0 28 28 Cosmic_Gene C C A C C TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 23518 2 136399261 136399261 41 NBL diagnosis snv SETMAR missense F2L NM_006515 30-PAPTAN SETMAR TSS-UPSTREAM,MISSENSE SNP Somatic 18 0.898 SQHIGH 11 15 26 0 37 37 Cosmic_Gene T T C T T TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 6419 3 4345058 4345058 49 NBL diagnosis snv DOCK3 missense D1326Y NM_004947 30-PAPTAN DOCK3 MISSENSE SNP Somatic 19 0.962 SQHIGH 18 20 38 0 43 43 G G T G G TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 1795 3 51386343 51386343 71 NBL diagnosis snv ATP13A5 missense E1003G NM_198505 30-PAPTAN ATP13A5 MISSENSE SNP Somatic -10 0.062 SQHIGH 5 18 23 0 20 20 Cosmic_Gene T T C T T TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 344905 3 193007689 193007689 15 NBL diagnosis snv ABCA13 missense S80L NM_152701 30-PAPTAN ABCA13 MISSENSE SNP Somatic -3 0.110 SQHIGH 6 17 23 0 28 28 Cosmic_Gene C C T C C TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 154664 7 48237909 48237909 23 NBL diagnosis snv TNFRSF11B missense A133V NM_002546 30-PAPTAN TNFRSF11B MISSENSE SNP Somatic PFAM:PF00020:TNFR_c6 7 0.298 SQHIGH 18 25 43 0 31 31 Cosmic_Gene G G A G G TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 4982 8 119945172 119945172 51 NBL diagnosis snv GAL3ST3 silent G194G NM_033036 30-PAPTAN GAL3ST3 SYNONYMOUS SNP Somatic PFAM:PF03567:Sulfotransfer_2 3 0.197 SQHIGH 10 13 23 0 17 17 Cosmic_Gene G G T G G TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 89792 11 65810692 65810692 29 NBL diagnosis snv SIK2 missense T878M NM_015191 30-PAPTAN SIK2 MISSENSE SNP Somatic -6 0.085 SQHIGH 11 0 11 0 16 16 Cosmic_Gene C T T C C TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 23235 11 111594705 111594705 71 NBL diagnosis snv MIR8073 EXON E3_exon NM_001846 30-PAPTAN COL4A2 INTRON SNP Somatic 12 0.486 SQHIGH 26 30 56 0 55 55 Cosmic_Gene G G A G G TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 1284 13 110993305 110993305 94 NBL diagnosis snv MYH7 silent L1100L NM_000257 30-PAPTAN MYH7|MIR208B SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF01576:Myosin_tail_1 12 0.486 SQHIGH 18 26 44 2 51 53 Cosmic_Gene G G A G G TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 4625|100126336 14 23890203 23890203 53 NBL diagnosis snv KIF26A missense E1288G NM_015656 30-PAPTAN KIF26A MISSENSE SNP Somatic -8 0.073 SQHIGH 5 24 29 0 20 20 Cosmic_Gene A A G A A TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 26153 14 104642988 104642988 12 NBL diagnosis snv TMC5 missense N604Y NM_001105248 30-PAPTAN TMC5 MISSENSE SNP Somatic 8 0.327 SQHIGH 7 10 17 0 26 26 Cosmic_Gene A A T A A TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 79838 16 19483437 19483437 32 NBL diagnosis snv ABCC12 missense A191T NM_033226 30-PAPTAN ABCC12 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane -27 0.012 4 22 26 0 38 38 Cosmic_Gene C C T C C TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 94160 16 48174684 48174684 16 NBL diagnosis snv SETBP1 missense E1202G NM_015559 30-PAPTAN SETBP1 MISSENSE SNP Somatic 1 0.162 SQHIGH 27 84 111 0 54 54 Cosmic_Gene A A G A A TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 26040 18 42532910 42532910 52 NBL diagnosis snv NEDD4L silent D95D NM_001144967 30-PAPTAN NEDD4L SYNONYMOUS,UTR5 SNP Somatic 12 0.486 SQHIGH 29 22 51 0 23 23 Cosmic_Gene C C T C C TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 23327 18 55919274 55919274 63 NBL diagnosis snv DYRK1B splice_region R269_E6splice_region NM_004714 30-PAPTDH DYRK1B INTRON SNP Somatic 0 0.122 SQHIGH 5 15 20 0 20 20 Cosmic_Gene C C A C C TARGET-30-PAPTDH-01A-01D TARGET-30-PAPTDH-10A-01D 9149 19 40318929 40318929 16 NBL diagnosis mnv BBS9 splice G110_E4splice NM_014451 30-PAPTDH BBS9 DISRUPT Sub Somatic -6 0.343 SQHIGH 4 11 15 0 26 26 Cosmic_Gene TA TA CC TA TA TARGET-30-PAPTDH-01A-01D TARGET-30-PAPTDH-10A-01D 27241 7 33195316 33195317 19 NBL diagnosis snv ALK missense R1275Q NM_004304 30-PAPTFZ ALK MISSENSE SNP dbsnp.132:rs113994087 Somatic 7 0.268 SQHIGH 17 16 33 0 43 43 COSMIC:mut:28056 Cosmic_Gene C C T C C TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 238 2 29432664 29432664 75 NBL diagnosis snv FRAS1 splice_region T1475_E32splice_region NM_025074 30-PAPTFZ FRAS1 DONOR SNP Somatic -8 0.066 SQHIGH 7 37 44 0 35 35 Cosmic_Gene A A G A A TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 80144 4 79334243 79334243 19 NBL diagnosis snv C4orf51 silent G103G NM_001080531 30-PAPTFZ C4orf51 SYNONYMOUS SNP Somatic 17 0.837 SQHIGH 18 20 38 0 26 26 A A G A A TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 646603 4 146648064 146648064 50 NBL diagnosis snv FAM160A1 missense E1036G NM_001109977 30-PAPTFZ FAM160A1 MISSENSE SNP Somatic -8 0.066 SQHIGH 6 15 21 1 29 30 A A G A A TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 729830 4 152583890 152583890 18 NBL diagnosis snv EIF3B missense G435S NM_003751 30-PAPTFZ EIF3B MISSENSE SNP Somatic 12 0.465 SQHIGH 17 22 39 0 35 35 G G A G G TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 8662 7 2406173 2406173 57 NBL diagnosis snv SLC12A9 silent S763S NM_020246 30-PAPTFZ TRIP6|SLC12A9 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 8 0.297 SQHIGH 15 13 28 0 28 28 Cosmic_Gene C C T C C TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 7205|56996 7 100463771 100463771 56 NBL diagnosis snv CDKN2A silent A4A NM_000077 30-PAPTFZ CDKN2A SYNONYMOUS,INTRON SNP Somatic -18 0.027 3 13 16 0 33 33 Cosmic_Gene C C A C C TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 1029 9 21974815 21974815 15 NBL diagnosis snv RARRES3 missense D30Y NM_004585 30-PAPTFZ RARRES3 MISSENSE SNP Somatic PFAM:PF08405:Calici_PP_N 12 0.465 SQHIGH 28 30 58 0 34 34 Cosmic_Gene G G T G G TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 5920 11 63307066 63307066 70 NBL diagnosis snv PCF11 missense R393G NM_015885 30-PAPTFZ PCF11 MISSENSE SNP Somatic -8 0.066 SQHIGH 10 38 48 1 41 42 Cosmic_Gene A A G A A TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 51585 11 82877116 82877116 21 NBL diagnosis snv TROAP missense S213L NM_005480 30-PAPTFZ TROAP MISSENSE SNP Somatic -3 0.102 SQHIGH 12 60 72 0 103 103 Cosmic_Gene C C T C C TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 10024 12 49719863 49719863 49 NBL diagnosis snv PROSER1 missense T563S NM_025138 30-PAPTFZ PROSER1 MISSENSE SNP Somatic -6 0.077 SQHIGH 4 24 28 0 33 33 T T A T T TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 80209 13 39587702 39587702 14 NBL diagnosis snv MAP4K1 missense M414T NM_001042600 30-PAPTFZ MAP4K1 MISSENSE SNP Somatic -10 0.057 SQHIGH 10 4 14 0 11 11 Cosmic_Gene A A G A A TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 11184 19 39096330 39096330 35 NBL diagnosis snv C1orf116 silent P262P NM_023938 30-PAPTIP C1orf116 SYNONYMOUS SNP Somatic 5 0.240 SQHIGH 35 49 84 0 58 58 Cosmic_Gene G G A G G TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 79098 1 207196323 207196323 96 NBL diagnosis snv TBCE splice E372_E12splice NM_001079515 30-PAPTIP TBCE DISRUPT SNP Somatic 12 0.510 SQHIGH 12 24 36 0 48 48 G G T G G TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 6905 1 235600790 235600790 50 NBL diagnosis snv TMF1 missense L856M NM_007114 30-PAPTIP TMF1 MISSENSE SNP Somatic 17 0.865 SQHIGH 17 16 33 1 35 36 G G T G G TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 7110 3 69078994 69078994 56 NBL diagnosis snv MUC17 missense A3731S NM_001040105 30-PAPTIP MUC17 MISSENSE SNP Somatic 7 0.309 SQHIGH 23 57 80 0 64 64 Cosmic_Gene G G T G G TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 140453 7 100685888 100685888 66 NBL diagnosis snv C1QL3 nonsense Q99* NM_001010908 30-PAPTIP C1QL3 NONSENSE SNP Somatic -6 0.086 SQHIGH 5 8 13 0 13 13 Cosmic_Gene G G A G G TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 389941 10 16562770 16562770 17 NBL diagnosis snv CYP2E1 missense S256Y NM_000773 30-PAPTIP CYP2E1 MISSENSE SNP Somatic PFAM:PF00067:p450 7 0.309 SQHIGH 21 33 54 0 51 51 Cosmic_Gene C C A C C TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 1571 10 135346314 135346314 71 NBL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 30-PAPTIP KCNQ1 INTRON SNP Somatic 5 0.240 SQHIGH 13 12 25 0 26 26 Cosmic_Gene G G T G G TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 3784 11 2638774 2638774 50 NBL diagnosis snv OR4C16 missense F62L NM_001004701 30-PAPTIP OR4C16 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 12 0.510 SQHIGH 17 29 46 0 53 53 Cosmic_Gene C C A C C TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 219428 11 55339789 55339789 65 NBL diagnosis snv KCNA5 silent R186R NM_002234 30-PAPTIP KCNA5 SYNONYMOUS SNP Somatic PFAM:PF00651:BTB -3 0.111 SQHIGH 15 38 53 0 47 47 Cosmic_Gene G G C G G TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 3741 12 5153871 5153871 46 NBL diagnosis snv GRIP1 silent L321L NM_021150 30-PAPTIP GRIP1 SYNONYMOUS SNP Somatic 9 0.375 SQHIGH 14 30 44 0 51 51 Cosmic_Gene C C T C C TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 23426 12 66856783 66856783 52 NBL diagnosis snv GPR133 splice M844_E25splice NM_198827 30-PAPTIP GPR133 DISRUPT SNP Somatic -5 0.094 SQHIGH 20 120 140 0 65 65 Cosmic_Gene G G T G G TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 283383 12 131623712 131623712 35 NBL diagnosis snv GGA3 silent T529T NM_138619 30-PAPTIP GGA3 SYNONYMOUS,UTR SNP Somatic -3 0.111 SQHIGH 23 103 126 2 69 71 Cosmic_Gene G G C G G TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 23163 17 73235649 73235649 31 NBL diagnosis snv ZNF761 silent L341L NM_001008401 30-PAPTIP ZNF761 SYNONYMOUS SNP Somatic 18 0.906 SQHIGH 15 20 35 0 60 60 Cosmic_Gene T T A T T TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 388561 19 53958784 53958784 75 NBL diagnosis snv LOC101927051 EXON E3_exon NM_018957 30-PAPTIP SH3BP1 INTRON SNP Somatic 15 0.719 SQHIGH 45 28 73 0 68 68 Cosmic_Gene C C T C C TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 23616 22 38038512 38038512 171 NBL diagnosis snv FLG2 missense Q1060K NM_001014342 30-PAPTLD LOC339400|FLG2 INTRON|MISSENSE SNP Somatic 2 0.248 SQHIGH 33 47 80 0 72 72 Cosmic_Gene G G T G G TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 339400|388698 1 152327084 152327084 Somatic Illumina 109 1276 488 1764 7622 2 7631 NBL diagnosis snv PPP1R12B missense I507V NM_001167857 30-PAPTLD PPP1R12B UTR3,INTRON,MISSENSE SNP Somatic 0 0.203 SQHIGH 8 26 34 0 45 45 Cosmic_Gene A A G A A TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 4660 1 202407213 202407213 32 NBL diagnosis snv MYO7B splice_region L1576_E34splice_region NM_001080527 30-PAPTLD MYO7B DONOR SNP Somatic -4 0.134 SQHIGH 6 12 18 0 22 22 Cosmic_Gene C C T C C TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 4648 2 128387406 128387406 23 NBL diagnosis snv RAD54L2 missense G207A NM_015106 30-PAPTLD RAD54L2 MISSENSE SNP Somatic 16 0.832 SQHIGH 21 12 33 0 43 43 Cosmic_Gene G G C G G TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 23132 3 51664742 51664742 Somatic Illumina 99 17657 28082 45771 83133 48 83219 NBL diagnosis snv PKHD1 missense P371T NM_138694 30-PAPTLD PKHD1 MISSENSE SNP Somatic 7 0.410 SQHIGH 11 20 31 0 30 30 Cosmic_Gene G G T G G TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 5314 6 51927324 51927324 Somatic Illumina 37 22796 6463 29276 46525 18 46556 NBL diagnosis snv VPS37C missense F344S NM_017966 30-PAPTLD VPS37C MISSENSE SNP Somatic -1 0.183 SQHIGH 5 9 14 0 19 19 A A G A A TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 55048 11 60899329 60899329 21 NBL diagnosis snv ATM missense K2717R NM_000051 30-PAPTLD ATM MISSENSE SNP Somatic -32 0.006 3 5 8 0 47 47 Cosmic_Gene A A G A A TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 472 11 108205835 108205835 27 NBL diagnosis snv PCED1B-AS1 EXON E2_exon NM_138371 30-PAPTLD LOC100233209 UTR SNP Somatic -6 0.112 SQHIGH 7 33 40 0 34 34 C C G C C TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 100233209 12 47604089 47604089 20 NBL diagnosis snv MGA missense A3019S NM_001164273 30-PAPTLD MGA MISSENSE SNP Somatic 6 0.370 SQHIGH 20 36 56 1 32 33 Cosmic_Gene G G T G G TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 23269 15 42059335 42059335 Somatic Illumina 37 32195 9605 41823 64286 17 64335 NBL diagnosis snv U2AF2 silent Y409Y NM_007279 30-PAPTLD U2AF2 SYNONYMOUS SNP dbsnp.134:rs149002438 Somatic PFAM:PF04059:RRM_2 1 0.224 SQHIGH 9 18 27 0 29 29 Cosmic_Gene C C T C C TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 11338 19 56180992 56180992 Somatic Illumina 32 32131 14778 46911 79084 77 79188 NBL diagnosis snv PTK6 missense D369E NM_005975 30-PAPTLD PTK6 MISSENSE SNP Somatic 6 0.370 SQHIGH 13 15 28 0 26 26 Cosmic_Gene G G C G G TARGET-30-PAPTLD-01A-01D TARGET-30-PAPTLD-10A-01D 5753 20 62161492 62161492 Somatic Illumina 45 29752 32015 61792 88076 121 88256 NBL diagnosis snv ZNF683 missense A278D NM_001114759 30-PAPTLV ZNF683 MISSENSE SNP Somatic 12 0.459 SQHIGH 8 16 24 0 26 26 G G T G G TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 257101 1 26691204 26691204 29 NBL diagnosis snv ALK missense R1275Q NM_004304 30-PAPTLV ALK MISSENSE SNP dbsnp.132:rs113994087 Somatic 3 0.179 SQHIGH 17 18 35 1 30 31 COSMIC:mut:28056 Cosmic_Gene C C T C C TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 238 2 29432664 29432664 47 NBL diagnosis snv STK36 missense R40C NM_015690 30-PAPTLV RNF25|STK36 TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.270 SQHIGH 15 27 42 0 37 37 Cosmic_Gene C C T C C TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 64320|27148 2 219538381 219538381 47 NBL diagnosis snv GPR62 silent A96A NM_080865 30-PAPTLV GPR62 SYNONYMOUS SNP Somatic 5 0.216 SQHIGH 7 6 13 0 18 18 Cosmic_Gene C C A C C TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 118442 3 51989956 51989956 32 NBL diagnosis snv IL12B missense D287Y NM_002187 30-PAPTLV IL12B MISSENSE SNP Somatic 8 0.298 SQHIGH 23 32 55 0 63 63 C C A C C TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 3593 5 158743821 158743821 90 NBL diagnosis snv DOK3 missense Q452H NM_024872 30-PAPTLV DOK3 INTRON,MISSENSE SNP Somatic -1 0.123 SQHIGH 7 3 10 0 13 13 C C G C C TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 79930 5 176931119 176931119 33 NBL diagnosis snv VNN3 missense Q186H NM_001291702 30-PAPTLV VNN3 UTR SNP Somatic -4 0.094 SQHIGH 7 20 27 0 25 25 C C A C C TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 55350 6 133044918 133044918 22 NBL diagnosis snv GRID2IP missense L983H NM_001145118 30-PAPTLV GRID2IP MISSENSE SNP Somatic PFAM:PF02181:FH2 -7 0.074 SQHIGH 6 19 25 0 24 24 A A T A A TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 392862 7 6542754 6542754 19 NBL diagnosis snv EPHB6 missense E73G NM_004445 30-PAPTLV EPHB6 MISSENSE SNP Somatic -7 0.074 SQHIGH 7 33 40 1 46 47 Cosmic_Gene A A G A A TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 2051 7 142561776 142561776 18 NBL diagnosis snv ANKRD26 missense K514N NM_014915 30-PAPTLV ANKRD26 MISSENSE SNP Somatic 9 0.330 SQHIGH 10 15 25 0 16 16 Cosmic_Gene C C A C C TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 22852 10 27349296 27349296 25 NBL diagnosis snv EFTUD1 silent R619R NM_024580 30-PAPTLV EFTUD1 SYNONYMOUS SNP Somatic -10 0.059 SQHIGH 6 30 36 1 42 43 Cosmic_Gene T T C T T TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 79631 15 82456219 82456219 15 NBL diagnosis snv SEC14L5 splice A21A NM_014692 30-PAPTLV SEC14L5 SYNONYMOUS SNP Somatic PFAM:PF04707:PRELI -5 0.086 SQHIGH 6 41 47 0 52 52 G G A G G TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 9717 16 5009387 5009387 20 NBL diagnosis snv MUC16 missense C12718R NM_024690 30-PAPTLV MUC16 MISSENSE SNP dbsnp.132:rs114264815 Somatic PFAM:PF01390:SEA -2 0.112 SQHIGH 4 12 16 0 25 25 Cosmic_Gene A A G A A TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 94025 19 9015671 9015671 17 NBL diagnosis snv PDXK missense F90I NM_003681 30-PAPTLV PDXK MISSENSE SNP Somatic PFAM:PF00294:PfkB -3 0.101 SQHIGH 4 14 18 0 27 27 T T A T T TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 8566 21 45163625 45163625 17 NBL diagnosis snv RAB41 silent F92F NM_001032726 30-PAPTLV RAB41 SYNONYMOUS SNP Somatic -10 0.059 SQHIGH 7 37 44 1 44 45 Cosmic_Gene T T C T T TARGET-30-PAPTLV-01A-01D TARGET-30-PAPTLV-10A-01D 347517 X 69503159 69503159 16 NBL diagnosis snv GSTM5 splice_region G12_E1splice_region NM_000851 30-PAPTLY GSTM5 DONOR SNP Somatic 1 0.156 SQHIGH 14 36 50 0 58 58 Cosmic_Gene G G A G G TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 2949 1 110254975 110254975 52 NBL diagnosis snv ADAMTS4 missense H659N NM_005099 30-PAPTLY ADAMTS4 MISSENSE SNP Somatic 3 0.188 SQHIGH 15 38 53 0 53 53 Cosmic_Gene G G T G G TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 9507 1 161161967 161161967 50 NBL diagnosis snv HEATR5B silent E809E NM_019024 30-PAPTLY HEATR5B SYNONYMOUS SNP Somatic 2 0.172 SQHIGH 6 10 16 0 16 16 Cosmic_Gene T T C T T TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 54497 2 37280723 37280723 21 NBL diagnosis snv MRPS30 missense C6F NM_016640 30-PAPTLY LOC100506674|MRPS30 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF07147:PDCD9 6 0.262 SQHIGH 16 43 59 1 43 44 G G T G G TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 100506674|10884 5 44809081 44809081 34 NBL diagnosis snv PDLIM7 splice_region K93_E4splice_region NM_005451 30-PAPTLY PDLIM7 DONOR SNP Somatic 8 0.322 SQHIGH 22 50 72 0 56 56 Cosmic_Gene C C T C C TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 9260 5 176919401 176919401 62 NBL diagnosis snv EXOC4 missense M145V NM_021807 30-PAPTLY EXOC4 MISSENSE SNP Somatic 15 0.705 SQHIGH 19 13 32 0 46 46 Cosmic_Gene A A G A A TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 60412 7 132973832 132973832 93 NBL diagnosis snv SNTB1 splice_region R263_E3splice_region NM_021021 30-PAPTLY SNTB1 ACCEPTOR SNP Somatic 7 0.292 SQHIGH 20 31 51 0 37 37 Cosmic_Gene G G T G G TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 6641 8 121644900 121644900 56 NBL diagnosis snv NRIP3 missense R139I NM_020645 30-PAPTLY NRIP3 MISSENSE SNP Somatic 15 0.705 SQHIGH 26 32 58 0 72 72 C C A C C TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 56675 11 9009101 9009101 108 NBL diagnosis snv ABCC8 missense P436Q NM_000352 30-PAPTLY ABCC8 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane 8 0.322 SQHIGH 15 30 45 0 54 54 Cosmic_Gene G G T G G TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 6833 11 17470088 17470088 58 NBL diagnosis snv ADAMTS8 missense Q325K NM_007037 30-PAPTLY ADAMTS8 MISSENSE SNP Somatic 14 0.624 SQHIGH 14 17 31 0 33 33 Cosmic_Gene G G T G G TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 11095 11 130286958 130286958 53 NBL diagnosis snv DGKA missense E542D NM_201444 30-PAPTLY DGKA MISSENSE SNP Somatic PFAM:PF00609:DAGK_acc 4 0.208 SQHIGH 36 56 92 0 103 103 Cosmic_Gene G G T G G TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 1606 12 56345857 56345857 137 NBL diagnosis snv CUX2 missense H1332N NM_015267 30-PAPTLY CUX2 MISSENSE SNP Somatic 8 0.322 SQHIGH 31 39 70 0 68 68 Cosmic_Gene C C A C C TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 23316 12 111785662 111785662 110 NBL diagnosis snv CDH24 silent G87G NM_022478 30-PAPTLY CDH24 SYNONYMOUS SNP Somatic 8 0.322 SQHIGH 28 30 58 2 67 69 Cosmic_Gene C C T C C TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 64403 14 23524503 23524503 92 NBL diagnosis snv FBF1 missense Q292H NM_001080542 30-PAPTLY FBF1 MISSENSE SNP Somatic 6 0.262 SQHIGH 24 39 63 1 59 60 C C A C C TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 85302 17 73921478 73921478 69 NBL diagnosis snv SLC1A5 splice_region S203_E2splice_region NM_005628 30-PAPTLY SLC1A5 INTRON SNP Somatic -3 0.109 SQHIGH 5 37 42 0 28 28 G G C G G TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 6510 19 47287764 47287764 12 NBL diagnosis snv ATRN missense G1386V NM_139321 30-PAPTLY ATRN MISSENSE SNP Somatic 6 0.262 SQHIGH 18 32 50 0 65 65 Cosmic_Gene G G T G G TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 8455 20 3624907 3624907 74 NBL diagnosis snv RTN4R silent S70S NM_023004 30-PAPTLY LOC100652746|RTN4R UTR|SYNONYMOUS SNP Somatic 11 0.436 SQHIGH 20 26 46 2 71 73 C C T C C TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 100652746|65078 22 20230446 20230446 75 NBL diagnosis snv SLC2A11 nonsense C367* NM_030807 30-PAPTLY SLC2A11 NONSENSE SNP Somatic PFAM:PF00083:Sugar_tr 14 0.624 SQHIGH 18 26 44 0 50 50 Cosmic_Gene C C A C C TARGET-30-PAPTLY-01A-01D TARGET-30-PAPTLY-10A-01D 66035 22 24226054 24226054 69 NBL diagnosis snv NRAS missense Q61K NM_002524 30-PAPTMM NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 6 0.241 SQHIGH 23 23 46 0 34 34 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 4893 1 115256530 115256530 Somatic Illumina 69 49203 41964 91716 119415 164 120264 NBL diagnosis snv HMCN1 missense Q1586K NM_031935 30-PAPTMM HMCN1 MISSENSE SNP Somatic PFAM:PF00047:ig 16 0.825 SQHIGH 26 23 49 0 53 53 Cosmic_Gene C C A C C TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 83872 1 185984416 185984416 Somatic Illumina 103 24276 23365 47697 62665 61 62795 NBL diagnosis snv MFAP3L silent T133T NM_021647 30-PAPTMM MFAP3L SYNONYMOUS SNP Somatic PFAM:PF00047:ig 12 0.541 SQHIGH 32 31 63 1 59 60 Cosmic_Gene G G A G G TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 9848 4 170913360 170913360 102 NBL diagnosis snv MOCS1 missense D252Y NM_005943 30-PAPTMM MOCS1 MISSENSE,UTR SNP Somatic PFAM:PF06463:Mob_synth_C 14 0.679 SQHIGH 28 24 52 1 52 53 Cosmic_Gene C C A C C TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 4337 6 39881064 39881064 Somatic Illumina 95 18863 16725 35651 37115 36 37177 NBL diagnosis snv GAL3ST3 missense R85C NM_033036 30-PAPTMM GAL3ST3 MISSENSE SNP Somatic PFAM:PF03567:Sulfotransfer_2 12 0.541 SQHIGH 20 16 36 0 44 44 Cosmic_Gene G G A G G TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 89792 11 65811021 65811021 Somatic Illumina 87 53929 45758 99693 108573 152 108729 NBL diagnosis snv PANX1 nonsense G99* NM_015368 30-PAPTMM PANX1 NONSENSE SNP Somatic 2 0.127 SQHIGH 15 15 30 0 22 22 G G T G G TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 24145 11 93886770 93886770 Somatic Illumina 45 15716 14811 30555 38025 64 38118 NBL diagnosis snv B4GALNT3 missense R844Q NM_173593 30-PAPTMM B4GALNT3 MISSENSE SNP dbsnp.134:rs146146897 Somatic PFAM:PF01644:Chitin_synth_1 17 0.913 SQHIGH 20 16 36 0 24 24 Cosmic_Gene G G A G G TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 283358 12 666924 666924 Somatic Illumina 58 21184 18474 39668 38630 72 38711 NBL diagnosis snv DEFB115 nonsense G11* NM_001037730 30-PAPTMM DEFB115 NONSENSE SNP Somatic 8 0.320 SQHIGH 33 34 67 1 39 40 Cosmic_Gene G G T G G TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 245929 20 29845497 29845497 Somatic Illumina 72 21916 21481 43429 51698 74 51788 NBL diagnosis snv LRRC74B silent L54L NM_001291006 30-PAPTMM LOC400891|P2RX6P UTR|TSS-UPSTREAM SNP Somatic 13 0.609 SQHIGH 14 17 31 0 42 42 G G T G G TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 400891|440799 22 21401667 21401667 Somatic Illumina 61 24714 21889 46634 44557 68 44663 NBL diagnosis snv GRIPAP1 splice K424_E15splice NM_020137 30-PAPTMM GRIPAP1 DISRUPT SNP Somatic 6 0.241 SQHIGH 17 33 50 0 33 33 Cosmic_Gene C C A C C TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 56850 X 48840186 48840186 Somatic Illumina 43 22240 12223 34486 33764 31 33822 NBL diagnosis snv MME missense G715A NM_000902 30-PAPUAR MME MISSENSE SNP Somatic 2 0.152 SQHIGH 8 24 32 0 31 31 Cosmic_Gene G G C G G TARGET-30-PAPUAR-01A-01D TARGET-30-PAPUAR-10A-01D 4311 3 154890392 154890392 26 NBL diagnosis snv WDR19 missense L214F NM_025132 30-PAPUAR WDR19 MISSENSE SNP Somatic PFAM:PF00400:WD40 -27 0.009 3 10 13 0 26 26 COSMIC:mut:50853 Cosmic_Gene A A T A A TARGET-30-PAPUAR-01A-01D TARGET-30-PAPUAR-10A-01D 57728 4 39206812 39206812 15 NBL diagnosis snv PI16 missense A237V NM_153370 30-PAPUAR PI16 MISSENSE SNP Somatic 7 0.265 SQHIGH 20 68 88 0 86 86 C C T C C TARGET-30-PAPUAR-01A-01D TARGET-30-PAPUAR-10A-01D 221476 6 36930828 36930828 64 NBL diagnosis snv THNSL1 silent I305I NM_024838 30-PAPUAR THNSL1 SYNONYMOUS SNP Somatic 4 0.185 SQHIGH 4 19 23 0 34 34 Cosmic_Gene A A T A A TARGET-30-PAPUAR-01A-01D TARGET-30-PAPUAR-10A-01D 79896 10 25313067 25313067 16 NBL diagnosis snv LRRC37A3 silent A1585A NM_199340 30-PAPUAR LRRC37A3 SYNONYMOUS SNP Somatic 5 0.205 SQHIGH 18 51 69 1 60 61 C C G C C TARGET-30-PAPUAR-01A-01D TARGET-30-PAPUAR-10A-01D 374819 17 62854951 62854951 44 NBL diagnosis snv MZF1 missense R297G NM_003422 30-PAPUAR MZF1|LOC100131691|UBE2M MISSENSE|INTRON|TSS-UPSTREAM SNP Somatic 5 0.205 SQHIGH 10 36 46 1 58 59 Cosmic_Gene G G C G G TARGET-30-PAPUAR-01A-01D TARGET-30-PAPUAR-10A-01D 7593|100131691|9040 19 59074755 59074755 30 NBL diagnosis snv EP300 nonsense Q898* NM_001429 30-PAPUAR EP300 NONSENSE SNP Somatic -2 0.105 SQHIGH 5 31 36 0 32 32 Cosmic_Gene C C T C C TARGET-30-PAPUAR-01A-01D TARGET-30-PAPUAR-10A-01D 2033 22 41546077 41546077 14 NBL diagnosis snv EIF2AK3 missense D190Y NM_004836 30-PAPUNH EIF2AK3 MISSENSE SNP Somatic 16 0.758 SQHIGH 11 10 21 0 22 22 Cosmic_Gene C C A C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 9451 2 88895052 88895052 42 NBL diagnosis snv SRP72 splice G547_E16splice NM_006947 30-PAPUNH SRP72 DISRUPT SNP Somatic 16 0.758 SQHIGH 10 15 25 0 27 27 Cosmic_Gene G G A G G TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 6731 4 57357735 57357735 37 NBL diagnosis snv KRIT1 missense N192S NM_194456 30-PAPUNH KRIT1 MISSENSE SNP Somatic -3 0.111 SQHIGH 6 10 16 0 11 11 Cosmic_Gene T T C T T TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 889 7 91864871 91864871 16 NBL diagnosis snv MAMDC2 missense R82P NM_153267 30-PAPUNH MAMDC2 MISSENSE SNP Somatic 14 0.612 SQHIGH 42 30 72 0 54 54 Cosmic_Gene G G C G G TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 256691 9 72723223 72723223 135 NBL diagnosis snv TRIM21 missense L110F NM_003141 30-PAPUNH TRIM21 MISSENSE SNP Somatic PFAM:PF00643:zf-B_box 13 0.534 SQHIGH 15 32 47 0 72 72 Cosmic_Gene G G A G G TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 6737 11 4411312 4411312 67 NBL diagnosis snv ACCSL silent L438L NM_001031854 30-PAPUNH ACCSL SYNONYMOUS SNP Somatic 16 0.758 SQHIGH 24 25 49 0 39 39 Cosmic_Gene G G T G G TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 390110 11 44077863 44077863 76 NBL diagnosis snv CPNE6 missense D263E NM_006032 30-PAPUNH CPNE6 MISSENSE SNP Somatic 14 0.612 SQHIGH 45 26 71 0 92 92 Cosmic_Gene C C A C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 9362 14 24544725 24544725 213 NBL diagnosis snv C14orf183 silent A36A NM_001014830 30-PAPUNH C14orf183 SYNONYMOUS SNP Somatic 0 0.141 SQHIGH 5 22 27 0 33 33 A A G A A TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 196913 14 50558460 50558460 18 NBL diagnosis snv SMG6 silent V1071V NM_017575 30-PAPUNH SMG6 SYNONYMOUS SNP Somatic 6 0.247 SQHIGH 20 43 63 0 65 65 Cosmic_Gene C C T C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 23293 17 2076096 2076096 69 NBL diagnosis snv SLFN13 nonsense E691* NM_144682 30-PAPUNH SLFN13 NONSENSE SNP Somatic 14 0.612 SQHIGH 29 20 49 0 52 52 Cosmic_Gene C C A C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 146857 17 33768237 33768237 118 NBL diagnosis snv CA10 missense W325C NM_001082533 30-PAPUNH CA10 MISSENSE SNP Somatic 6 0.247 SQHIGH 29 48 77 0 40 40 Cosmic_Gene C C A C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 56934 17 49708957 49708957 63 NBL diagnosis snv KIF2B silent Y31Y NM_032559 30-PAPUNH KIF2B SYNONYMOUS SNP Somatic 7 0.286 SQHIGH 23 57 80 0 48 48 Cosmic_Gene C C T C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 84643 17 51900487 51900487 53 NBL diagnosis snv DOCK6 splice_region K906_E22splice_region NM_020812 30-PAPUNH DOCK6 DONOR SNP Somatic 15 0.698 SQHIGH 43 31 74 0 75 75 Cosmic_Gene C C T C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 57572 19 11343873 11343873 169 NBL diagnosis snv KIR3DL1 missense H67Q NM_013289 30-PAPUNH KIR3DL1 MISSENSE SNP Somatic -6 0.091 SQHIGH 57 69 127 1 114 115 Cosmic_Gene C C A C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 3811 19 55329900 55329900 179 NBL diagnosis snv KCNS1 silent S289S NM_002251 30-PAPUNH KCNS1 SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans -5 0.097 SQHIGH 6 16 22 0 14 14 C C A C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 3787 20 43726546 43726546 14 NBL diagnosis snv LAS1L missense C306Y NM_031206 30-PAPUNH LAS1L MISSENSE SNP Somatic 13 0.534 SQHIGH 59 8 67 0 82 82 Cosmic_Gene C C T C C TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 81887 X 64748179 64748179 325 NBL diagnosis snv IGBP1 missense R190H NM_001551 30-PAPUNH IGBP1 MISSENSE SNP Somatic PFAM:PF04177:TAP42 10 0.384 SQHIGH 13 31 44 0 47 47 Cosmic_Gene G G A G G TARGET-30-PAPUNH-01A-01D TARGET-30-PAPUNH-10A-01D 3476 X 69366569 69366569 46 NBL diagnosis snv IFFO2 missense L227I NM_001136265 30-PAPUTN IFFO2 MISSENSE SNP Somatic PFAM:PF00038:Filament 6 0.224 SQHIGH 68 8 76 0 50 50 G G T G G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 126917 1 19247602 19247602 263 NBL diagnosis snv ITGA4 missense P510S NM_000885 30-PAPUTN ITGA4 MISSENSE SNP Somatic PFAM:PF08441:Integrin_alpha2 15 0.685 SQHIGH 18 28 46 1 55 56 Cosmic_Gene C C T C C TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 3676 2 182360652 182360652 61 NBL diagnosis snv DLG1 missense V382I NM_001098424 30-PAPUTN DLG1 MISSENSE SNP Somatic 19 0.956 SQHIGH 17 14 31 0 25 25 Cosmic_Gene C C T C C TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 1739 3 196857518 196857518 56 NBL diagnosis snv FAM160A1 silent L996L NM_001109977 30-PAPUTN FAM160A1 SYNONYMOUS SNP Somatic 4 0.177 SQHIGH 35 34 69 0 64 64 G G T G G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 729830 4 152583771 152583771 124 NBL diagnosis snv MARCH1 silent E90E NM_001166373 30-PAPUTN MARCH1 SYNONYMOUS SNP Somatic 17 0.858 SQHIGH 40 29 69 0 71 71 Cosmic_Gene C C T C C TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 55016 4 164507054 164507054 159 NBL diagnosis snv SLC12A7 missense M81R NM_006598 30-PAPUTN SLC12A7 MISSENSE SNP Somatic 10 0.351 SQHIGH 231 96 327 0 78 78 Cosmic_Gene A A C A A TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 10723 5 1093748 1093748 341 NBL diagnosis snv FASTKD3 silent L609L NM_024091 30-PAPUTN FASTKD3|LOC100288963 SYNONYMOUS,UTR|INTRON SNP Somatic PFAM:PF08373:RAP 8 0.280 SQHIGH 9 9 18 0 20 20 Cosmic_Gene C C A C C TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 79072|100288963 5 7861319 7861319 35 NBL diagnosis snv HINT2 missense L115I NM_032593 30-PAPUTN HINT2|SPAG8 MISSENSE|TSS-UPSTREAM SNP Somatic 17 0.858 SQHIGH 34 9 43 1 54 55 Cosmic_Gene G G T G G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 84681|26206 9 35813320 35813320 162 NBL diagnosis snv GRAMD1B missense C632F NM_020716 30-PAPUTN GRAMD1B MISSENSE SNP Somatic 2 0.146 SQHIGH 33 91 124 0 88 88 Cosmic_Gene G G T G G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 57476 11 123489058 123489058 86 NBL diagnosis snv LOC101929427 EXON E1_exon NM_032531 30-PAPUTN KIRREL3 INTRON SNP Somatic 7 0.251 SQHIGH 22 68 90 0 65 65 Cosmic_Gene C C A C C TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 84623 11 126551896 126551896 57 NBL diagnosis snv PRDM10 silent D154D NM_020228 30-PAPUTN PRDM10 SYNONYMOUS SNP Somatic 3 0.160 SQHIGH 48 115 163 0 98 98 Cosmic_Gene G G A G G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 56980 11 129817098 129817098 112 NBL diagnosis snv EP400 missense Q816K NM_015409 30-PAPUTN EP400 MISSENSE SNP Somatic PFAM:PF07529:HSA 7 0.251 SQHIGH 20 43 63 0 63 63 Cosmic_Gene C C A C C TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 57634 12 132474545 132474545 68 NBL diagnosis snv CCDC168 missense A5803S NM_001146197 30-PAPUTN CCDC168 MISSENSE SNP Somatic 7 0.251 SQHIGH 21 40 61 0 65 65 C C A C C TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 643677 13 103385640 103385640 75 NBL diagnosis snv AP1G1 splice_region G670_E21splice_region NM_001030007 30-PAPUTN AP1G1 ACCEPTOR SNP Somatic 5 0.195 SQHIGH 4 12 16 0 24 24 Cosmic_Gene A A T A A TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 164 16 71773249 71773249 17 NBL diagnosis snv USP6 silent V148V NM_004505 30-PAPUTN USP6 SYNONYMOUS SNP dbsnp.134:rs117611547 Somatic PFAM:PF00566:TBC -28 0.008 8 57 65 4 107 111 COSMIC:mut:106706 Cosmic_Gene G G A G G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 9098 17 5037241 5037241 15 NBL diagnosis snv TP53 missense P250L NM_000546 30-PAPUTN TP53 MISSENSE SNP Somatic 18 0.901 SQHIGH 30 8 38 1 53 54 COSMIC:mut:10771 Cosmic_Gene G G A G G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 7157 17 7577532 7577532 151 NBL diagnosis snv KRT37 nonsense Y355* NM_003770 30-PAPUTN KRT37 NONSENSE SNP Somatic PFAM:PF00038:Filament 11 0.395 SQHIGH 46 49 95 0 81 81 Cosmic_Gene G G T G G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 8688 17 39577795 39577795 153 NBL diagnosis snv MUC16 silent A6084A NM_024690 30-PAPUTN MUC16 SYNONYMOUS SNP Somatic 5 0.195 SQHIGH 29 41 70 0 63 63 Cosmic_Gene G G T G G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 94025 19 9069194 9069194 96 NBL diagnosis snv CEP250 silent D1841D NM_007186 30-PAPUTN CEP250 SYNONYMOUS SNP Somatic 3 0.160 SQHIGH 35 61 96 0 78 78 Cosmic_Gene C C T C C TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 11190 20 34091720 34091720 105 NBL diagnosis snv FTH1P18 silent A181A NM_001271682 30-PAPUTN SNP Somatic 10 0.351 SQHIGH 18 5 23 0 12 12 G T G TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D X 37061219 37061219 51 NBL diagnosis snv FRMPD3 missense S928T NM_032428 30-PAPUTN FRMPD3 MISSENSE SNP Somatic 14 0.586 SQHIGH 14 3 17 0 13 13 Cosmic_Gene T A T TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 84443 X 106843952 106843952 53 NBL diagnosis snv MAGEA10 missense A28S NM_001011543 30-PAPUTN MAGEA10|MAGEA10-MAGEA5 MISSENSE|INTRON SNP Somatic PFAM:PF12440:MAGE_N 20 0.997 SQHIGH 29 3 32 0 27 27 C A C TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 4109|100533997 X 151304011 151304011 131 NBL diagnosis mnv SLC12A7 missense S78_N79>RD NM_006598 30-PAPUTN SLC12A7 MISSENSE Sub Somatic -4 0.399 SQHIGH 157 112 269 0 90 90 Cosmic_Gene TA TA CC TA TA TARGET-30-PAPUTN-01A-01D TARGET-30-PAPUTN-10A-01D 10723 5 1093755 1093756 274 NBL diagnosis snv SKI missense E655G NM_003036 30-PAPUWY SKI MISSENSE SNP Somatic -5 0.093 SQHIGH 7 14 22 0 17 17 Cosmic_Gene A A G A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 6497 1 2237655 2237655 20 NBL diagnosis snv LURAP1 missense K75R NM_001013615 30-PAPUWY C1orf190|POMGNT1 MISSENSE|UTR SNP Somatic 13 0.530 SQHIGH 10 24 34 0 28 28 Cosmic_Gene A A G A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 541468|55624 1 46685396 46685396 29 NBL diagnosis snv LRRC7 missense E60A NM_020794 30-PAPUWY LRRC7 MISSENSE SNP Somatic 14 0.605 SQHIGH 15 23 38 0 30 30 Cosmic_Gene A A C A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 57554 1 70226066 70226066 45 NBL diagnosis snv PEAR1 splice_region S34_E2splice_region NM_001080471 30-PAPUWY PEAR1 DONOR SNP Somatic -9 0.069 SQHIGH 7 21 28 0 26 26 Cosmic_Gene A A G A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 375033 1 156873825 156873825 22 NBL diagnosis snv MNDA missense L175Q NM_002432 30-PAPUWY MNDA MISSENSE SNP Somatic 5 0.228 SQHIGH 11 29 40 0 43 43 Cosmic_Gene T T A T T TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 4332 1 158813866 158813866 38 NBL diagnosis snv SLC45A3 nonsense W90* NM_033102 30-PAPUWY SLC45A3 NONSENSE SNP Somatic 5 0.228 SQHIGH 9 21 30 0 25 25 Cosmic_Gene C C T C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 85414 1 205632649 205632649 26 NBL diagnosis snv USH2A missense L2120I NM_206933 30-PAPUWY USH2A MISSENSE SNP Somatic 9 0.345 SQHIGH 7 19 26 0 24 24 Cosmic_Gene G G T G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 7399 1 216173872 216173872 22 NBL diagnosis snv GREB1 splice_region R1041_E19splice_region NM_014668 30-PAPUWY GREB1 DONOR SNP Somatic 8 0.313 SQHIGH 14 29 43 0 47 47 Cosmic_Gene G G T G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 9687 2 11752739 11752739 51 NBL diagnosis snv KIAA2018 missense A907E NM_001009899 30-PAPUWY KIAA2018 MISSENSE SNP dbsnp.119:rs9852318 Somatic 4 0.208 SQHIGH 16 30 46 0 57 57 Cosmic_Gene G G T G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 205717 3 113377809 113377809 64 NBL diagnosis snv HERC3 missense E93D NM_014606 30-PAPUWY HERC3 MISSENSE SNP Somatic PFAM:PF00415:RCC1 15 0.674 SQHIGH 10 14 24 0 33 33 Cosmic_Gene G G T G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 8916 4 89571043 89571043 43 NBL diagnosis snv ETFDH silent G170G NM_004453 30-PAPUWY ETFDH SYNONYMOUS SNP Somatic PFAM:PF00670:AdoHcyase_NAD -7 0.081 SQHIGH 9 9 18 0 13 13 Cosmic_Gene C C A C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 2110 4 159606275 159606275 26 NBL diagnosis snv CMYA5 nonsense S741* NM_153610 30-PAPUWY CMYA5 NONSENSE SNP Somatic 13 0.530 SQHIGH 24 30 54 0 57 57 Cosmic_Gene C C A C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 202333 5 79026810 79026810 90 NBL diagnosis snv BAI3 splice_region G1063_E25splice_region NM_001704 30-PAPUWY BAI3 ACCEPTOR SNP dbsnp.131:rs76401347 Somatic -1 0.132 SQHIGH 5 23 28 0 25 25 Cosmic_Gene G G T G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 577 6 70048804 70048804 15 NBL diagnosis snv FILIP1 missense F936I NM_015687 30-PAPUWY FILIP1 MISSENSE SNP Somatic 6 0.258 SQHIGH 15 39 54 0 49 49 Cosmic_Gene A A T A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 27145 6 76022742 76022742 47 NBL diagnosis snv CLVS2 missense V159F NM_001010852 30-PAPUWY CLVS2 MISSENSE SNP Somatic 14 0.605 SQHIGH 14 23 37 0 34 34 Cosmic_Gene G G T G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 134829 6 123332215 123332215 46 NBL diagnosis snv KIAA1244 missense T125K NM_020340 30-PAPUWY KIAA1244 MISSENSE SNP Somatic 12 0.473 SQHIGH 13 27 40 0 36 36 Cosmic_Gene C C A C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 57221 6 138550943 138550943 41 NBL diagnosis snv KDELR2 silent S128S NM_006854 30-PAPUWY KDELR2 SYNONYMOUS,INTRON SNP Somatic PFAM:PF00810:ER_lumen_recept 4 0.208 SQHIGH 11 34 45 0 48 48 Cosmic_Gene G G A G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 11014 7 6505922 6505922 38 NBL diagnosis snv SLC13A1 missense T520N NM_022444 30-PAPUWY SLC13A1 MISSENSE SNP Somatic PFAM:PF00939:Na_sulph_symp 13 0.530 SQHIGH 10 22 32 0 29 29 Cosmic_Gene G G T G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 6561 7 122757616 122757616 31 NBL diagnosis snv C8orf33 missense N79Y NM_023080 30-PAPUWY C8orf33 MISSENSE SNP Somatic 10 0.382 SQHIGH 27 38 65 0 56 56 A A T A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 65265 8 146278200 146278200 87 NBL diagnosis snv SORCS3 splice P544_E11splice NM_014978 30-PAPUWY SORCS3 DISRUPT SNP Somatic 5 0.228 SQHIGH 21 42 63 0 71 71 Cosmic_Gene A A C A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 22986 10 106918648 106918648 78 NBL diagnosis snv OR10V1 missense G89V NM_001005324 30-PAPUWY OR10V1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 9 0.345 SQHIGH 23 41 64 0 58 58 C C A C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 390201 11 59481053 59481053 74 NBL diagnosis snv INTS5 missense E54G NM_030628 30-PAPUWY INTS5|GANAB MISSENSE|TSS-UPSTREAM SNP Somatic 11 0.423 SQHIGH 10 13 23 0 21 21 Cosmic_Gene T T C T T TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 80789|23193 11 62417391 62417391 33 NBL diagnosis snv PPP1CA silent S325S NM_002708 30-PAPUWY PPP1CA SYNONYMOUS SNP Somatic 8 0.313 SQHIGH 17 25 42 0 49 49 Cosmic_Gene G G A G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 5499 11 67166024 67166024 67 NBL diagnosis snv LRIG3 missense C757F NM_001136051 30-PAPUWY LRIG3 MISSENSE SNP Somatic 9 0.345 SQHIGH 13 31 44 0 32 32 Cosmic_Gene C C A C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 121227 12 59271268 59271268 35 NBL diagnosis snv LATS2 silent D1048D NM_014572 30-PAPUWY LATS2 SYNONYMOUS SNP Somatic 13 0.530 SQHIGH 23 32 55 1 68 69 Cosmic_Gene G G A G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 26524 13 21549132 21549132 83 NBL diagnosis snv AP4E1 missense N923H NM_007347 30-PAPUWY AP4E1 MISSENSE SNP Somatic PFAM:PF07718:Coatamer_beta_C 12 0.473 SQHIGH 10 25 35 0 36 36 A A C A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 23431 15 51289943 51289943 34 NBL diagnosis snv TP53 missense D281N NM_000546 30-PAPUWY TP53 MISSENSE SNP Somatic -1 0.132 SQHIGH 7 28 35 0 30 30 Cosmic_Gene C C T C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 7157 17 7577097 7577097 20 NBL diagnosis snv MYH8 missense I1022T NM_002472 30-PAPUWY MYH8 MISSENSE SNP Somatic -8 0.074 SQHIGH 7 30 37 0 31 31 Cosmic_Gene A A G A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 4626 17 10304635 10304635 20 NBL diagnosis snv ZNF286B silent F108F NM_001145045 30-PAPUWY ZNF286B SYNONYMOUS SNP Somatic 7 0.285 SQHIGH 11 20 31 1 35 36 G G A G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 729288 17 18566495 18566495 33 NBL diagnosis snv INTS2 splice_region R1149_E24splice_region NM_020748 30-PAPUWY INTS2|BRIP1 INTRON|TSS-UPSTREAM SNP Somatic 7 0.285 SQHIGH 11 34 45 0 34 34 Cosmic_Gene A A G A A TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 57508|83990 17 59945185 59945185 29 NBL diagnosis snv LOC388780 missense P72S NM_001287682 30-PAPUWY LOC388780 UTR SNP Somatic 10 0.382 SQHIGH 11 18 29 1 26 27 C C T C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 388780 20 2188004 2188004 28 NBL diagnosis snv ZNF341 missense S173R NM_032819 30-PAPUWY ZNF341 MISSENSE SNP Somatic 8 0.313 SQHIGH 23 41 64 0 45 45 Cosmic_Gene C C A C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 84905 20 32341007 32341007 62 NBL diagnosis snv TTI1 silent T24T NM_014657 30-PAPUWY TTI1 SYNONYMOUS SNP Somatic 11 0.423 SQHIGH 14 31 45 0 48 48 Cosmic_Gene G G C G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 9675 20 36642147 36642147 49 NBL diagnosis snv AMELX missense Q64K NM_001142 30-PAPUWY ARHGAP6|AMELX INTRON|MISSENSE SNP Somatic PFAM:PF02948:Amelogenin 12 0.473 SQHIGH 15 29 44 0 31 31 Cosmic_Gene C C A C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 395|265 X 11316713 11316713 40 NBL diagnosis snv PDHA1 silent A353A NM_000284 30-PAPUWY PDHA1 SYNONYMOUS SNP Somatic 0 0.145 SQHIGH 8 35 43 0 40 40 Cosmic_Gene C C A C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 5160 X 19377657 19377657 24 NBL diagnosis snv HEPH missense G627V NM_138737 30-PAPUWY HEPH MISSENSE SNP Somatic 9 0.345 SQHIGH 11 24 35 0 49 49 Cosmic_Gene G G T G G TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 9843 X 65418724 65418724 46 NBL diagnosis snv DGAT2L6 missense Y218H NM_198512 30-PAPUWY DGAT2L6 MISSENSE SNP Somatic 9 0.345 SQHIGH 21 37 58 1 66 67 Cosmic_Gene T T C T T TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 347516 X 69424159 69424159 69 NBL diagnosis snv CENPI missense A246D NM_006733 30-PAPUWY CENPI MISSENSE SNP Somatic PFAM:PF07778:Mis6 7 0.285 SQHIGH 8 24 32 0 28 28 Cosmic_Gene C C A C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 2491 X 100381747 100381747 24 NBL diagnosis snv ECE1 silent D222D NM_001397 30-PAPVEB ECE1 SYNONYMOUS SNP Somatic -1 0.113 SQHIGH 6 16 22 0 36 36 Cosmic_Gene G G A G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 1889 1 21585282 21585282 27 NBL diagnosis snv RNF220 nonsense W358* NM_018150 30-PAPVEB RNF220 NONSENSE SNP Somatic 19 0.948 SQHIGH 11 9 20 0 41 41 Cosmic_Gene G G A G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 55182 1 45101781 45101781 64 NBL diagnosis snv EDARADD missense D85Y NM_145861 30-PAPVEB EDARADD MISSENSE SNP Somatic 17 0.790 SQHIGH 13 18 31 0 41 41 G G T G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 128178 1 236631564 236631564 55 NBL diagnosis snv APOB missense S2947C NM_000384 30-PAPVEB APOB MISSENSE SNP Somatic 16 0.689 SQHIGH 25 24 49 0 58 58 Cosmic_Gene T T A T T TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 338 2 21230901 21230901 104 NBL diagnosis snv MPHOSPH10 silent E426E NM_005791 30-PAPVEB MPHOSPH10 SYNONYMOUS SNP Somatic PFAM:PF04006:Mpp10 -2 0.102 SQHIGH 8 37 45 0 34 34 Cosmic_Gene A A G A A TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 10199 2 71366962 71366962 21 NBL diagnosis snv UBE2F splice E40_E3splice NM_080678 30-PAPVEB UBE2F|UBE2F-SCLY DISRUPT|DISRUPT SNP Somatic -2 0.102 SQHIGH 5 9 14 0 27 27 G G T G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 140739|100533179 2 238896604 238896604 26 NBL diagnosis snv PCOLCE2 missense P269T NM_013363 30-PAPVEB PCOLCE2 MISSENSE SNP Somatic -1 0.113 SQHIGH 14 12 26 0 31 31 Cosmic_Gene G G T G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 26577 3 142548594 142548594 59 NBL diagnosis snv PLSCR2 missense G192V NM_001199978 30-PAPVEB PLSCR2 MISSENSE SNP Somatic PFAM:PF03803:Scramblase 0 0.124 SQHIGH 15 11 26 1 19 20 C C A C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 57047 3 146171916 146171916 38 NBL diagnosis snv LRBA missense S1436A NM_006726 30-PAPVEB LRBA MISSENSE SNP Somatic -10 0.052 SQHIGH 5 14 19 0 38 38 Cosmic_Gene A A C A A TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 987 4 151770003 151770003 26 NBL diagnosis snv ANKHD1 missense G87R NM_017747 30-PAPVEB ANKHD1-EIF4EBP3|ANKHD1 MISSENSE|MISSENSE SNP Somatic 4 0.183 SQHIGH 9 12 21 0 36 36 Cosmic_Gene G G A G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 404734|54882 5 139781811 139781811 45 NBL diagnosis snv ADAMTS2 splice_region V917_E19splice_region NM_014244 30-PAPVEB ADAMTS2 ACCEPTOR SNP Somatic 5 0.201 SQHIGH 11 15 26 0 30 30 Cosmic_Gene C C A C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 9509 5 178552191 178552191 43 NBL diagnosis snv ABCA13 missense L1777V NM_152701 30-PAPVEB ABCA13 MISSENSE SNP Somatic 13 0.480 SQHIGH 17 21 38 0 46 46 Cosmic_Gene C C G C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 154664 7 48314592 48314592 69 NBL diagnosis snv CUL1 missense M1I NM_003592 30-PAPVEB CUL1 MISSTART SNP Somatic 17 0.790 SQHIGH 13 18 31 0 32 32 Cosmic_Gene G G T G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 8454 7 148427217 148427217 47 NBL diagnosis snv PDLIM2 missense P12T NM_176871 30-PAPVEB PDLIM2 MISSENSE SNP Somatic -7 0.066 SQHIGH 9 28 37 0 35 35 C C A C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 64236 8 22438151 22438151 28 NBL diagnosis snv MYBL1 missense M307I NM_001080416 30-PAPVEB MYBL1 MISSENSE SNP Somatic 7 0.250 SQHIGH 7 19 26 0 32 32 Cosmic_Gene C C A C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 4603 8 67492548 67492548 27 NBL diagnosis snv MROH5 splice_region K1026_E23splice_region NM_207414 30-PAPVEB FLJ43860 INTRON SNP Somatic -3 0.093 SQHIGH 7 33 40 0 27 27 T T C T T TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 389690 8 142451236 142451236 17 NBL diagnosis snv NTRK2 missense W753L NM_006180 30-PAPVEB NTRK2 MISSENSE SNP Somatic 14 0.553 SQHIGH 17 19 36 1 34 35 Cosmic_Gene G G T G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 4915 9 87635206 87635206 50 NBL diagnosis snv PHF19 silent K79K NM_015651 30-PAPVEB PHF19 SYNONYMOUS SNP Somatic 3 0.166 SQHIGH 11 38 49 1 47 48 Cosmic_Gene T T C T T TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 26147 9 123636288 123636288 27 NBL diagnosis snv RC3H2 silent T1066T NM_001100588 30-PAPVEB RC3H2 SYNONYMOUS SNP Somatic 6 0.225 SQHIGH 21 37 58 0 28 28 Cosmic_Gene A A C A A TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 54542 9 125613635 125613635 42 NBL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 30-PAPVEB KCNQ1 INTRON SNP Somatic 4 0.183 SQHIGH 18 18 36 0 28 28 Cosmic_Gene T T A T T TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 3784 11 2640182 2640182 56 NBL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 30-PAPVEB KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 0 0.124 SQHIGH 6 18 24 0 40 40 Cosmic_Gene C C A C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 3784|10984 11 2673995 2673995 27 NBL diagnosis snv KDM5A missense S803T NM_001042603 30-PAPVEB KDM5A MISSENSE SNP Somatic PFAM:PF08429:PLU-1 -5 0.079 SQHIGH 6 32 38 0 34 34 Cosmic_Gene C C G C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 5927 12 431601 431601 18 NBL diagnosis snv KRAS missense G12D NM_033360 30-PAPVEB KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 10 0.341 SQHIGH 8 14 22 0 27 27 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 3845 12 25398284 25398284 31 NBL diagnosis snv SPRYD3 missense Q249H NM_032840 30-PAPVEB SPRYD3 MISSENSE SNP Somatic 11 0.379 SQHIGH 14 21 35 0 32 32 Cosmic_Gene C C A C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 84926 12 53462035 53462035 46 NBL diagnosis snv HIF1A silent Y279Y NM_001530 30-PAPVEB HIF1A SYNONYMOUS SNP Somatic PFAM:PF08447:PAS_3 11 0.379 SQHIGH 8 13 21 0 31 31 Cosmic_Gene T T C T T TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 3091 14 62199199 62199199 36 NBL diagnosis snv THBS1 missense A574T NM_003246 30-PAPVEB THBS1 MISSENSE SNP Somatic 8 0.275 SQHIGH 21 10 31 0 24 24 Cosmic_Gene G G A G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 7057 15 39881234 39881234 73 NBL diagnosis snv CGNL1 missense L130I NM_032866 30-PAPVEB CGNL1 MISSENSE SNP Somatic 12 0.427 SQHIGH 17 25 42 0 30 30 Cosmic_Gene C C A C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 84952 15 57730585 57730585 47 NBL diagnosis snv MTFMT missense C37S NM_139242 30-PAPVEB MTFMT MISSENSE SNP Somatic 10 0.341 SQHIGH 10 8 18 0 23 23 Cosmic_Gene A A T A A TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 123263 15 65321843 65321843 44 NBL diagnosis snv STXBP4 missense S416P NM_178509 30-PAPVEB STXBP4 MISSENSE SNP Somatic PFAM:PF09726:Macoilin 8 0.275 SQHIGH 9 20 29 0 25 25 Cosmic_Gene T T C T T TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 252983 17 53155496 53155496 27 NBL diagnosis snv HGS nonsense E373* NM_004712 30-PAPVEB HGS NONSENSE SNP Somatic 1 0.137 SQHIGH 13 45 58 0 47 47 Cosmic_Gene G G T G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 9146 17 79662095 79662095 36 NBL diagnosis snv STXBP2 missense K403N NM_006949 30-PAPVEB STXBP2 MISSENSE SNP Somatic PFAM:PF00995:Sec1 -3 0.093 SQHIGH 4 19 23 0 28 28 Cosmic_Gene G G C G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 6813 19 7709601 7709601 15 NBL diagnosis snv TRMT1 missense D231E NM_017722 30-PAPVEB TRMT1 MISSENSE SNP Somatic PFAM:PF00398:RrnaAD -8 0.061 SQHIGH 6 31 37 0 34 34 Cosmic_Gene A A C A A TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 55621 19 13223774 13223774 18 NBL diagnosis snv ILVBL missense R190W NM_006844 30-PAPVEB ILVBL MISSENSE SNP Somatic 10 0.341 SQHIGH 14 18 32 0 46 46 Cosmic_Gene T T A T T TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 10994 19 15233739 15233739 63 NBL diagnosis snv RPS19 missense G127E NM_001022 30-PAPVEB RPS19 MISSENSE SNP Somatic PFAM:PF01090:Ribosomal_S19e -6 0.072 SQHIGH 8 30 38 1 36 37 G G A G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 6223 19 42373792 42373792 18 NBL diagnosis snv HIF3A silent P490P NM_152794 30-PAPVEB HIF3A SYNONYMOUS,INTRON SNP Somatic PFAM:PF11413:HIF-1 9 0.306 SQHIGH 29 27 56 0 50 50 Cosmic_Gene C C A C C TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 64344 19 46832499 46832499 101 NBL diagnosis snv SLC2A10 missense G204V NM_030777 30-PAPVEB SLC2A10 MISSENSE SNP Somatic 2 0.151 SQHIGH 9 21 30 0 26 26 Cosmic_Gene G G T G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 81031 20 45354286 45354286 27 NBL diagnosis snv ABCG1 nonsense *667Q NM_016818 30-PAPVEB ABCG1 NONSTOP SNP Somatic 9 0.306 SQHIGH 15 22 37 0 33 33 Cosmic_Gene T T C T T TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 9619 21 43716500 43716500 49 NBL diagnosis snv ZC3H7B missense D259H NM_017590 30-PAPVEB ZC3H7B MISSENSE SNP Somatic 9 0.306 SQHIGH 8 23 31 0 40 40 Cosmic_Gene G G C G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 23264 22 41735154 41735154 31 NBL diagnosis snv ZC3H7B missense W857C NM_017590 30-PAPVEB ZC3H7B MISSENSE SNP Somatic 6 0.225 SQHIGH 6 20 26 0 33 33 Cosmic_Gene G G T G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 23264 22 41752702 41752702 23 NBL diagnosis mnv HFE2 missense A301_E302>AQ NM_213653 30-PAPVEB HFE2 MISSENSE Sub Somatic PFAM:PF06534:RGM_C -7 0.330 SQHIGH 28 28 56 0 47 47 Cosmic_Gene AG AG CC AG AG TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 148738 1 145416558 145416559 92 NBL relapse snv SSU72 missense M168T NM_014188 30-PAPVEB SSU72|C1orf70 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF04722:Ssu72 -1 0.110 SQHIGH 5 13 18 1 26 27 A A G A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 29101|339453 1 1477528 1477528 15 NBL relapse snv PADI2 silent T468T NM_007365 30-PAPVEB PADI2 SYNONYMOUS SNP Somatic PFAM:PF03068:PAD -1 0.110 SQHIGH 11 2 13 0 16 16 Cosmic_Gene A A T A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 11240 1 17402225 17402225 56 NBL relapse snv ZNF648 missense D143E NM_001009992 30-PAPVEB ZNF648 MISSENSE SNP Somatic 14 0.548 SQHIGH 17 15 32 0 23 23 Cosmic_Gene G G T G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 127665 1 182026717 182026717 51 NBL relapse snv APOB missense S2947C NM_000384 30-PAPVEB APOB MISSENSE SNP Somatic 12 0.425 SQHIGH 17 26 43 0 58 58 Cosmic_Gene T T A T T TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 338 2 21230901 21230901 73 NBL relapse snv APLF missense S246T NM_173545 30-PAPVEB APLF MISSENSE SNP Somatic -4 0.084 SQHIGH 5 12 17 0 19 19 Cosmic_Gene T T A T T TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 200558 2 68753306 68753306 18 NBL relapse snv UNC80 missense T1011S NM_032504 30-PAPVEB UNC80 MISSENSE SNP Somatic -4 0.084 SQHIGH 3 13 16 0 26 26 A A T A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 285175 2 210699724 210699724 13 NBL relapse snv PLSCR2 missense G192V NM_001199978 30-PAPVEB PLSCR2 MISSENSE SNP Somatic PFAM:PF03803:Scramblase 0 0.122 SQHIGH 11 14 25 1 19 20 C C A C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 57047 3 146171916 146171916 25 NBL relapse snv MUC4 missense W5355L NM_018406 30-PAPVEB MUC4 MISSENSE SNP Somatic 3 0.165 SQHIGH 22 39 61 0 40 40 C C A C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 4585 3 195474222 195474222 56 NBL relapse snv CSN3 missense A68S NM_005212 30-PAPVEB CSN3 MISSENSE SNP Somatic PFAM:PF00997:Casein_kappa 10 0.342 SQHIGH 8 15 23 0 25 25 Cosmic_Gene G G T G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 1448 4 71114829 71114829 29 NBL relapse snv C4orf36 splice_region V22_E2splice_region NM_144645 30-PAPVEB C4orf36 INTRON SNP Somatic -7 0.066 SQHIGH 9 14 23 1 23 25 A A T A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 132989 4 87812600 87812600 24 NBL relapse snv SMARCAD1 splice V727I NM_001128429 30-PAPVEB SMARCAD1 MISSENSE SNP Somatic PFAM:PF00176:SNF2_N 14 0.548 SQHIGH 10 24 34 0 24 24 Cosmic_Gene G G A G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 56916 4 95199767 95199767 26 NBL relapse snv LRBA missense S1436A NM_006726 30-PAPVEB LRBA MISSENSE SNP Somatic 14 0.548 SQHIGH 11 7 18 0 38 38 Cosmic_Gene A A C A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 987 4 151770003 151770003 67 NBL relapse snv DNAH5 missense Y596S NM_001369 30-PAPVEB DNAH5 MISSENSE SNP Somatic PFAM:PF08385:DHC_N1 1 0.135 SQHIGH 11 24 35 0 19 19 Cosmic_Gene T T G T T TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 1767 5 13901626 13901626 24 NBL relapse snv ANKHD1 missense G87R NM_017747 30-PAPVEB ANKHD1-EIF4EBP3|ANKHD1 MISSENSE|MISSENSE SNP Somatic 5 0.200 SQHIGH 25 25 50 0 36 36 Cosmic_Gene G G A G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 404734|54882 5 139781811 139781811 74 NBL relapse snv MMS22L missense D333E NM_198468 30-PAPVEB MMS22L MISSENSE SNP Somatic 3 0.165 SQHIGH 13 17 30 0 22 22 Cosmic_Gene G G T G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 253714 6 97702553 97702553 37 NBL relapse snv CUL1 missense M1I NM_003592 30-PAPVEB CUL1 MISSTART SNP Somatic 20 0.973 SQHIGH 17 21 38 0 32 32 Cosmic_Gene G G T G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 8454 7 148427217 148427217 54 NBL relapse snv MYBL1 missense M307I NM_001080416 30-PAPVEB MYBL1 MISSENSE SNP Somatic 11 0.378 SQHIGH 10 10 20 0 32 32 Cosmic_Gene C C A C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 4603 8 67492548 67492548 49 NBL relapse snv PARP10 silent G969G NM_032789 30-PAPVEB PLEC|PARP10 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -10 0.051 SQHIGH 8 6 14 0 9 9 Cosmic_Gene G G A G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 5339|84875 8 145051823 145051823 22 NBL relapse snv PRPF4 nonsense C111* NM_004697 30-PAPVEB CDC26|PRPF4 TSS-UPSTREAM|NONSENSE SNP Somatic PFAM:PF08799:PRP4 6 0.224 SQHIGH 17 18 35 1 21 22 Cosmic_Gene C C A C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 246184|9128 9 116041349 116041349 35 NBL relapse snv GBGT1 missense P151T NM_021996 30-PAPVEB RALGDS|GBGT1 TSS-UPSTREAM|MISSENSE SNP Somatic 12 0.425 SQHIGH 26 26 52 0 41 41 Cosmic_Gene G G T G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 5900|26301 9 136029557 136029557 82 NBL relapse snv MRGPRX4 missense L227H NM_054032 30-PAPVEB MRGPRX4 MISSENSE SNP Somatic 12 0.425 SQHIGH 16 24 40 1 40 41 Cosmic_Gene T T A T T TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 117196 11 18195483 18195483 47 NBL relapse snv OR5T2 missense P221H NM_001004746 30-PAPVEB OR5T2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 13 0.478 SQHIGH 25 23 48 0 44 44 Cosmic_Gene G G T G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 219464 11 56000000 56000000 89 NBL relapse snv MS4A14 missense G140A NM_001261827 30-PAPVEB MS4A14 INTRON SNP Somatic -4 0.084 SQHIGH 21 41 62 0 43 43 Cosmic_Gene G G C G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 84689 11 60173363 60173363 55 NBL relapse snv GPR152 missense S350T NM_206997 30-PAPVEB CABP4|GPR152 TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.253 SQHIGH 17 35 52 0 30 30 A A T A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 57010|390212 11 67219148 67219148 39 NBL relapse snv KRAS missense G12D NM_033360 30-PAPVEB KRAS MISSENSE SNP dbsnp.133:rs121913529 Somatic 11 0.378 SQHIGH 32 11 43 0 27 27 COSMIC:mut:521 Cosmic_Gene C C T C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 3845 12 25398284 25398284 102 NBL relapse snv CPNE6 missense Q247P NM_006032 30-PAPVEB CPNE6 MISSENSE SNP Somatic 6 0.224 SQHIGH 17 38 55 0 43 43 Cosmic_Gene A A C A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 9362 14 24544448 24544448 48 NBL relapse snv LRFN5 missense R516C NM_152447 30-PAPVEB LRFN5 MISSENSE SNP Somatic 15 0.612 SQHIGH 16 16 32 1 29 30 Cosmic_Gene C C T C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 145581 14 42360613 42360613 46 NBL relapse snv HIF1A silent Y279Y NM_001530 30-PAPVEB HIF1A SYNONYMOUS SNP Somatic PFAM:PF08447:PAS_3 13 0.478 SQHIGH 19 8 27 0 31 31 Cosmic_Gene T T C T T TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 3091 14 62199199 62199199 86 NBL relapse snv THBS1 missense A574T NM_003246 30-PAPVEB THBS1 MISSENSE SNP Somatic 8 0.277 SQHIGH 14 24 38 0 24 24 Cosmic_Gene G G A G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 7057 15 39881234 39881234 35 NBL relapse snv CGNL1 missense L130I NM_032866 30-PAPVEB CGNL1 MISSENSE SNP Somatic 12 0.425 SQHIGH 19 26 45 0 30 30 Cosmic_Gene C C A C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 84952 15 57730585 57730585 51 NBL relapse snv MTFMT missense C37S NM_139242 30-PAPVEB MTFMT MISSENSE SNP Somatic 7 0.253 SQHIGH 7 6 13 0 23 23 Cosmic_Gene A A T A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 123263 15 65321843 65321843 37 NBL relapse snv PLCG2 missense P640T NM_002661 30-PAPVEB PLCG2 MISSENSE SNP Somatic 2 0.148 SQHIGH 17 37 54 0 33 33 Cosmic_Gene C C A C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 5336 16 81944309 81944309 40 NBL relapse snv OSGIN1 nonsense K331* NM_182981 30-PAPVEB NECAB2|OSGIN1 TSS-UPSTREAM|NONSENSE SNP Somatic PFAM:PF07992:Pyr_redox_2 7 0.253 SQHIGH 17 49 66 0 40 40 Cosmic_Gene A A T A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 54550|29948 16 83999169 83999169 39 NBL relapse snv MED1 missense R1355C NM_004774 30-PAPVEB MED1 MISSENSE SNP dbsnp.134:rs144700985 Somatic 10 0.342 SQHIGH 22 35 57 0 57 57 Cosmic_Gene G G A G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 5469 17 37564411 37564411 77 NBL relapse snv ILVBL splice_region R434_E11splice_region NM_006844 30-PAPVEB ILVBL INTRON SNP Somatic -1 0.110 SQHIGH 23 18 41 0 30 30 Cosmic_Gene C C A C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 10994 19 15227209 15227209 71 NBL relapse snv A1BG-AS1 EXON E3_exon NM_198458 30-PAPVEB A1BG|ZNF497|A1BG-AS1 TSS-UPSTREAM|UTR3|UTR SNP Somatic -9 0.056 SQHIGH 3 18 21 0 44 44 Cosmic_Gene A A C A A TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 1|162968|503538 19 58866213 58866213 15 NBL relapse snv SIRPB1 missense L346M NM_006065 30-PAPVEB SIRPB1 INTRON,MISSENSE SNP Somatic 17 0.790 SQHIGH 14 16 30 0 20 20 Cosmic_Gene G G T G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 10326 20 1551499 1551499 38 NBL relapse snv TGM6 silent Q75Q NM_198994 30-PAPVEB TGM6 SYNONYMOUS SNP Somatic PFAM:PF00868:Transglut_N 0 0.122 SQHIGH 20 26 46 0 30 30 Cosmic_Gene G G A G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 343641 20 2375883 2375883 53 NBL relapse snv SPEF1 missense Q63K NM_015417 30-PAPVEB SPEF1 MISSENSE SNP Somatic PFAM:PF00307:CH 7 0.253 SQHIGH 18 13 31 0 15 15 G G T G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 25876 20 3760345 3760345 41 NBL relapse snv TNFRSF6B silent T117T NM_003823 30-PAPVEB TNFRSF6B|RTEL1-TNFRSF6B SYNONYMOUS|UTR SNP Somatic 11 0.378 SQHIGH 12 19 31 0 22 22 Cosmic_Gene C C G C C TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 8771|100533107 20 62328471 62328471 33 NBL relapse snv ABCG1 nonsense *667Q NM_016818 30-PAPVEB ABCG1 NONSTOP SNP Somatic 9 0.306 SQHIGH 27 21 48 0 33 33 Cosmic_Gene T T C T T TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 9619 21 43716500 43716500 80 NBL relapse snv ARSH missense L203H NM_001011719 30-PAPVEB ARSH MISSENSE SNP Somatic 21 1.000 SQHIGH 29 1 30 0 26 26 Cosmic_Gene T A T TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 347527 X 2933278 2933278 144 NBL relapse mnv HFE2 missense A301_E302>AQ NM_213653 30-PAPVEB HFE2 MISSENSE Sub Somatic PFAM:PF06534:RGM_C -7 0.330 SQHIGH 23 25 48 0 47 47 Cosmic_Gene AG AG CC AG AG TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 148738 1 145416558 145416559 83 NBL diagnosis snv SRRM1 missense S420P NM_005839 30-PAPVFD SRRM1 MISSENSE SNP Somatic -7 0.077 SQHIGH 5 10 15 1 23 24 Cosmic_Gene T T C T T TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 10250 1 24981563 24981563 16 NBL diagnosis snv CLCA4 missense G682E NM_012128 30-PAPVFD CLCA4 MISSENSE,UTR SNP Somatic 11 0.387 SQHIGH 20 12 32 0 30 30 Cosmic_Gene G G A G G TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 22802 1 87043678 87043678 76 NBL diagnosis snv CFHR5 missense Q399R NM_030787 30-PAPVFD CFHR5 MISSENSE SNP Somatic PFAM:PF00084:Sushi 13 0.484 SQHIGH 8 9 17 0 24 24 Cosmic_Gene A A G A A TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 81494 1 196971660 196971660 36 NBL diagnosis snv DRC1 missense A100D NM_145038 30-PAPVFD DRC1 MISSENSE SNP Somatic 19 0.939 SQHIGH 24 14 38 0 25 25 Cosmic_Gene C C A C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 92749 2 26644211 26644211 72 NBL diagnosis snv TGFA missense V16A NM_003236 30-PAPVFD TGFA MISSENSE SNP Somatic 3 0.173 SQHIGH 19 22 41 0 35 35 Cosmic_Gene A A G A A TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 7039 2 70742038 70742038 62 NBL diagnosis snv STAMBP silent E361E NM_006463 30-PAPVFD STAMBP SYNONYMOUS SNP Somatic 15 0.629 SQHIGH 9 15 24 0 35 35 Cosmic_Gene G G A G G TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 10617 2 74086458 74086458 40 NBL diagnosis snv STAM2 missense N201S NM_005843 30-PAPVFD STAM2 MISSENSE SNP Somatic -4 0.094 SQHIGH 8 6 14 0 14 14 Cosmic_Gene T T C T T TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 10254 2 153000443 153000443 30 NBL diagnosis snv OXTR missense V314I NM_000916 30-PAPVFD OXTR MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -9 0.067 SQHIGH 4 7 11 0 31 31 C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 5021 3 8794893 8794893 25 NBL diagnosis snv ACKR2 missense E285G NM_001296 30-PAPVFD ACKR2 MISSENSE SNP Somatic -10 0.062 SQHIGH 6 17 23 0 35 35 Cosmic_Gene A A G A A TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 1238 3 42906848 42906848 26 NBL diagnosis snv MECOM missense R440K NM_001105077 30-PAPVFD MECOM MISSENSE SNP Somatic 20 0.974 SQHIGH 17 19 36 0 41 41 Cosmic_Gene C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 2122 3 168833972 168833972 68 NBL diagnosis snv PPA2 missense G143D NM_176869 30-PAPVFD PPA2 INTRON,MISSENSE SNP Somatic 14 0.558 SQHIGH 10 9 19 0 27 27 Cosmic_Gene C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 27068 4 106367553 106367553 46 NBL diagnosis snv SLC12A7 missense V1026I NM_006598 30-PAPVFD SLC12A7 MISSENSE SNP Somatic 12 0.432 SQHIGH 22 15 37 0 31 31 Cosmic_Gene C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 10723 5 1053548 1053548 76 NBL diagnosis snv C7 missense H210Y NM_000587 30-PAPVFD C7 MISSENSE SNP Somatic -2 0.110 SQHIGH 5 7 12 0 19 19 C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 730 5 40945360 40945360 23 NBL diagnosis snv POM121L12 silent P219P NM_182595 30-PAPVFD POM121L12 SYNONYMOUS SNP Somatic 5 0.208 SQHIGH 26 51 77 0 57 57 C C A C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 285877 7 53104021 53104021 72 NBL diagnosis snv ST18 missense A983S NM_014682 30-PAPVFD ST18 MISSENSE SNP Somatic PFAM:PF06133:DUF964 20 0.974 SQHIGH 20 15 35 0 35 35 Cosmic_Gene C C A C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 9705 8 53028891 53028891 77 NBL diagnosis snv CTNNA3 missense D387E NM_013266 30-PAPVFD CTNNA3 MISSENSE SNP Somatic PFAM:PF01044:Vinculin 2 0.158 SQHIGH 9 20 29 0 28 28 Cosmic_Gene G G T G G TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 29119 10 68526142 68526142 30 NBL diagnosis snv INPPL1 missense R479C NM_001567 30-PAPVFD INPPL1 MISSENSE SNP Somatic 2 0.158 SQHIGH 10 38 48 0 26 26 Cosmic_Gene C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 3636 11 71942171 71942171 20 NBL diagnosis snv CSAD missense A342V NM_015989 30-PAPVFD CSAD MISSENSE SNP Somatic -3 0.102 SQHIGH 6 10 16 0 26 26 Cosmic_Gene G G A G G TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 51380 12 53554569 53554569 28 NBL diagnosis snv ZDHHC17 missense P608R NM_015336 30-PAPVFD ZDHHC17 MISSENSE SNP Somatic 18 0.868 SQHIGH 13 13 26 0 35 35 C C G C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 23390 12 77244689 77244689 58 NBL diagnosis snv HAL splice_region V552_E18splice_region NM_002108 30-PAPVFD HAL DONOR SNP Somatic 13 0.484 SQHIGH 28 25 53 0 46 46 Cosmic_Gene C C A C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 3034 12 96371716 96371716 96 NBL diagnosis snv HCFC2 missense W330R NM_013320 30-PAPVFD HCFC2 MISSENSE SNP Somatic -1 0.121 SQHIGH 7 20 27 0 32 32 Cosmic_Gene T T C T T TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 29915 12 104476604 104476604 26 NBL diagnosis snv DOCK9 silent V507V NM_001130049 30-PAPVFD DOCK9 SYNONYMOUS SNP Somatic 15 0.629 SQHIGH 14 19 33 0 52 52 Cosmic_Gene C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 23348 13 99550501 99550501 67 NBL diagnosis snv PPP2R5E silent L242L NM_006246 30-PAPVFD PPP2R5E SYNONYMOUS SNP Somatic PFAM:PF01603:B56 -3 0.102 SQHIGH 7 6 13 0 12 12 Cosmic_Gene C C A C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 5529 14 63861958 63861958 24 NBL diagnosis snv HERC2 missense A4523P NM_004667 30-PAPVFD HERC2 MISSENSE SNP Somatic 15 0.629 SQHIGH 8 12 20 0 27 27 Cosmic_Gene C C G C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 8924 15 28361853 28361853 34 NBL diagnosis snv MYO1E missense Q1046K NM_004998 30-PAPVFD MYO1E MISSENSE SNP Somatic -6 0.082 SQHIGH 6 14 20 1 23 24 Cosmic_Gene G G T G G TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 4643 15 59430511 59430511 16 NBL diagnosis snv ANKRD34C silent P112P NM_001146341 30-PAPVFD ANKRD34C SYNONYMOUS SNP Somatic 7 0.266 SQHIGH 22 51 73 0 59 59 C C A C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 390616 15 79585962 79585962 64 NBL diagnosis snv MAPK3 missense E353G NM_001040056 30-PAPVFD GDPD3|MAPK3 TSS-UPSTREAM|INTRON,MISSENSE SNP Somatic -5 0.089 SQHIGH 5 12 17 0 12 12 T T C T T TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 79153|5595 16 30128174 30128174 13 NBL diagnosis snv EFCAB5 silent H1128H NM_198529 30-PAPVFD EFCAB5 SYNONYMOUS SNP dbsnp.134:rs143114099 Somatic PFAM:PF01590:GAF 11 0.387 SQHIGH 26 26 52 0 50 50 Cosmic_Gene C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 374786 17 28407957 28407957 94 NBL diagnosis snv FAM171A2 missense R186W NM_198475 30-PAPVFD FAM171A2 MISSENSE SNP Somatic PFAM:PF10577:UPF0560 3 0.173 SQHIGH 21 34 55 0 27 27 G G A G G TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 284069 17 42433840 42433840 43 NBL diagnosis snv ACBD4 missense N208H NM_001135705 30-PAPVFD ACBD4 SYNONYMOUS,MISSENSE SNP Somatic 2 0.158 SQHIGH 31 109 140 0 53 53 Cosmic_Gene A A C A A TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 79777 17 43215328 43215328 48 NBL diagnosis snv HOXB6 missense E117K NM_018952 30-PAPVFD HOXB5|LOC404266|HOXB6 TSS-UPSTREAM|INTRON|MISSENSE SNP Somatic 0 0.131 SQHIGH 14 56 70 0 47 47 C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 3215|404266|3216 17 46675164 46675164 34 NBL diagnosis snv NETO1 missense P155L NM_138999 30-PAPVFD NETO1 MISSENSE SNP Somatic 7 0.266 SQHIGH 17 36 53 0 34 34 Cosmic_Gene G G A G G TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 81832 18 70526063 70526063 42 NBL diagnosis snv DOT1L silent G91G NM_032482 30-PAPVFD DOT1L SYNONYMOUS SNP Somatic -2 0.110 SQHIGH 4 16 20 0 39 39 Cosmic_Gene C C A C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 84444 19 2191019 2191019 20 NBL diagnosis snv TSPEAR-AS1 EXON E9_exon NM_144991 30-PAPVFD TSPEAR|C21orf90 INTRON|TSS-UPSTREAM SNP Somatic 2 0.158 SQHIGH 16 16 32 0 29 29 Cosmic_Gene G G T G G TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 54084|114043 21 45935799 45935799 55 NBL diagnosis snv KLHDC7B missense L577F NM_138433 30-PAPVFD KLHDC7B MISSENSE SNP Somatic 8 0.291 SQHIGH 9 20 29 0 31 31 Cosmic_Gene C C T C C TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 113730 22 50988324 50988324 32 NBL diagnosis snv PCDHGA2 missense A793V NM_018915 30-PAPVRN PCDHGA3|PCDHGA2|PCDHGA1 TSS-UPSTREAM|MISSENSE|INTRON SNP Somatic -1 0.117 SQHIGH 6 31 37 0 24 24 Cosmic_Gene C C T C C TARGET-30-PAPVRN-01A-01D TARGET-30-PAPVRN-10A-01D 56112|56113|56114 5 140720916 140720916 14 NBL diagnosis snv SHC4 missense S511P NM_203349 30-PAPVRN SHC4 MISSENSE SNP Somatic -9 0.061 SQHIGH 7 32 39 1 43 44 Cosmic_Gene A A G A A TARGET-30-PAPVRN-01A-01D TARGET-30-PAPVRN-10A-01D 399694 15 49127172 49127172 17 NBL diagnosis snv MOCS3 missense I212T NM_014484 30-PAPVRN MOCS3|DPM1 MISSENSE|TSS-UPSTREAM SNP Somatic -10 0.057 SQHIGH 8 38 46 0 34 34 Cosmic_Gene T T C T T TARGET-30-PAPVRN-01A-01D TARGET-30-PAPVRN-10A-01D 27304|8813 20 49576014 49576014 20 NBL diagnosis snv SPOCD1 silent V741V NM_144569 30-PAPVXS SPOCD1 SYNONYMOUS SNP Somatic 13 0.543 SQHIGH 28 38 66 0 61 61 Cosmic_Gene C C A C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 90853 1 32262239 32262239 95 NBL diagnosis snv CCDC17 silent S361S NM_001114938 30-PAPVXS CCDC17 SYNONYMOUS SNP Somatic -5 0.093 SQHIGH 7 29 36 0 26 26 Cosmic_Gene C C T C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 149483 1 46087552 46087552 18 NBL diagnosis snv SPTA1 missense H123N NM_003126 30-PAPVXS SPTA1 MISSENSE SNP Somatic -8 0.073 SQHIGH 8 55 63 0 53 53 Cosmic_Gene G G T G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 6708 1 158653184 158653184 22 NBL diagnosis snv CFH missense V1060A NM_000186 30-PAPVXS CFH MISSENSE SNP Somatic 9 0.349 SQHIGH 7 12 19 0 23 23 Cosmic_Gene T T C T T TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 3075 1 196712627 196712627 27 NBL diagnosis snv TTN missense T5299A NM_133379 30-PAPVXS TTN INTRON,MISSENSE SNP Somatic 14 0.617 SQHIGH 26 30 56 0 56 56 Cosmic_Gene T T C T T TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 7273 2 179611232 179611232 95 NBL diagnosis snv BTD silent L521L NM_000060 30-PAPVXS BTD|LOC100505737 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 1 0.157 SQHIGH 29 54 83 0 69 69 G G T G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 686|100505737 3 15686926 15686926 88 NBL diagnosis snv FLNB missense R2187Q NM_001164317 30-PAPVXS FLNB MISSENSE SNP Somatic PFAM:PF00630:Filamin -4 0.100 SQHIGH 8 35 43 0 49 49 Cosmic_Gene G G A G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 2317 3 58139201 58139201 28 NBL diagnosis snv KCNMB3 silent V68V NM_171828 30-PAPVXS KCNMB3 SYNONYMOUS,UTR SNP Somatic PFAM:PF03185:CaKB -8 0.073 SQHIGH 9 48 57 0 50 50 G G T G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 27094 3 178968581 178968581 26 NBL diagnosis snv TET2 missense N715S NM_001127208 30-PAPVXS TET2 MISSENSE SNP Somatic 12 0.482 SQHIGH 15 34 49 0 66 66 Cosmic_Gene A A G A A TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 54790 4 106157243 106157243 62 NBL diagnosis snv MYO10 missense G1223R NM_012334 30-PAPVXS MYO10 MISSENSE SNP Somatic -38 0.001 4 24 28 1 54 55 Cosmic_Gene C C T C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 4651 5 16694613 16694613 14 NBL diagnosis snv RXFP3 missense F150L NM_016568 30-PAPVXS RXFP3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -23 0.017 4 28 32 0 44 44 Cosmic_Gene C C A C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 51289 5 33937295 33937295 16 NBL diagnosis snv JARID2 missense E186D NM_004973 30-PAPVXS JARID2 MISSENSE SNP Somatic 2 0.172 SQHIGH 9 42 51 0 31 31 Cosmic_Gene G G T G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 3720 6 15468837 15468837 20 NBL diagnosis snv DGKI missense F270L NM_004717 30-PAPVXS DGKI MISSENSE SNP Somatic PFAM:PF00130:C1_1 11 0.432 SQHIGH 35 38 73 0 34 34 Cosmic_Gene G G C G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 9162 7 137308295 137308295 74 NBL diagnosis snv UG0898H09 EXON E5_exon NM_173688 30-PAPVXS NKAIN3|UG0898H09 INTRON|UTR SNP Somatic 0 0.143 SQHIGH 10 41 51 0 35 35 C C T C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 286183|643763 8 63892418 63892418 24 NBL diagnosis snv MYO3A missense R275P NM_017433 30-PAPVXS MYO3A MISSENSE SNP Somatic -5 0.093 SQHIGH 5 26 31 0 26 26 Cosmic_Gene G G C G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 53904 10 26315332 26315332 14 NBL diagnosis snv FUT4 missense A234T NM_002033 30-PAPVXS FUT4 MISSENSE SNP Somatic PFAM:PF00852:Glyco_transf_10 9 0.349 SQHIGH 11 17 28 0 41 41 Cosmic_Gene G G A G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 2526 11 94277999 94277999 49 NBL diagnosis snv STARD9 missense S3346Y NM_020759 30-PAPVXS STARD9 MISSENSE SNP Somatic -2 0.119 SQHIGH 9 52 61 0 58 58 C C A C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 57519 15 42983813 42983813 27 NBL diagnosis snv OTOA nonsense Q306* NM_144672 30-PAPVXS OTOA TSS-UPSTREAM,NONSENSE SNP Somatic 9 0.349 SQHIGH 9 18 27 0 51 51 Cosmic_Gene C C T C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 146183 16 21712284 21712284 46 NBL diagnosis snv PIK3R5 missense D385Y NM_001142633 30-PAPVXS PIK3R5 MISSENSE SNP Somatic PFAM:PF10486:PI3K_1B_p101 -1 0.131 SQHIGH 5 19 24 0 34 34 Cosmic_Gene C C A C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 23533 17 8791951 8791951 20 NBL diagnosis snv ATP13A1 missense R680W NM_020410 30-PAPVXS ATP13A1 MISSENSE SNP Somatic 11 0.432 SQHIGH 19 28 47 0 59 59 Cosmic_Gene G G A G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 57130 19 19764655 19764655 78 NBL diagnosis snv WDR87 missense V505A NM_031951 30-PAPVXS WDR87 MISSENSE SNP Somatic 12 0.482 SQHIGH 15 21 36 0 65 65 A A G A A TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 83889 19 38384712 38384712 77 NBL diagnosis snv NUMBL missense G550A NM_004756 30-PAPVXS NUMBL MISSENSE SNP Somatic 17 0.868 SQHIGH 14 14 28 0 35 35 Cosmic_Gene C C G C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 9253 19 41173554 41173554 60 NBL diagnosis snv VN1R2 nonsense C216* NM_173856 30-PAPVXS ZNF677|VN1R2 TSS-UPSTREAM|NONSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF03402:V1R 14 0.617 SQHIGH 18 11 29 1 45 46 Cosmic_Gene C C A C C TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 342926|317701 19 53762276 53762276 83 NBL diagnosis snv NFATC2 missense P285H NM_012340 30-PAPVXS NFATC2 MISSENSE SNP Somatic 18 0.905 SQHIGH 17 20 37 0 31 31 Cosmic_Gene G G T G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 4773 20 50139926 50139926 55 NBL diagnosis snv HLCS silent I498I NM_000411 30-PAPVXS HLCS SYNONYMOUS SNP Somatic PFAM:PF03099:BPL_LplA_LipB -7 0.080 SQHIGH 12 36 48 0 65 65 Cosmic_Gene G G A G G TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 3141 21 38139544 38139544 49 NBL diagnosis snv NOTO silent L181L NM_001134462 30-PAPWUC NOTO SYNONYMOUS SNP Somatic 6 0.214 SQHIGH 14 39 53 0 51 51 G G T G G TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 344022 2 73435688 73435688 45 NBL diagnosis snv SP100 missense S626L NM_001080391 30-PAPWUC SP100 MISSENSE SNP Somatic PFAM:PF01342:SAND 11 0.377 SQHIGH 14 29 43 0 42 42 Cosmic_Gene C C T C C TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 6672 2 231371024 231371024 47 NBL diagnosis snv UROC1 splice_region L503_E15splice_region NM_144639 30-PAPWUC UROC1 INTRON SNP Somatic 0 0.110 SQHIGH 8 25 33 0 30 30 Cosmic_Gene G G C G G TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 131669 3 126214871 126214871 24 NBL diagnosis snv IL1RAP missense W70R NM_002182 30-PAPWUC IL1RAP MISSENSE SNP Somatic PFAM:PF00047:ig 0 0.110 SQHIGH 7 36 43 0 38 38 Cosmic_Gene T T A T T TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 3556 3 190322060 190322060 20 NBL diagnosis snv DNAH5 splice_region G2021_E37splice_region NM_001369 30-PAPWUC DNAH5 ACCEPTOR SNP dbsnp.134:rs143392650 Somatic -8 0.052 SQHIGH 8 43 51 0 44 44 Cosmic_Gene C C T C C TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 1767 5 13830326 13830326 23 NBL diagnosis snv DROSHA missense E1358K NM_013235 30-PAPWUC DROSHA MISSENSE SNP Somatic -4 0.074 SQHIGH 5 18 23 0 38 38 Cosmic_Gene C C T C C TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 29102 5 31401592 31401592 22 NBL diagnosis snv VCAN missense M535I NM_004385 30-PAPWUC VCAN INTRON,MISSENSE SNP Somatic -3 0.080 SQHIGH 9 45 54 0 67 67 Cosmic_Gene G G T G G TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 1462 5 82815730 82815730 33 NBL diagnosis snv PCDHGA10 missense L332I NM_018913 30-PAPWUC PCDHGB5|PCDHGB4|PCDHGA6|PCDHGB7|PCDHGB2|PCDHGA10|PCDHGA8|PCDHGA3|PCDHGB3|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGB6 INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 4 0.167 SQHIGH 11 30 41 0 44 44 Cosmic_Gene C C A C C TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 56101|8641|56109|56099|56103|56106|9708|56112|56102|56111|56107|56104|56108|56113|56110|56114|56100 5 140793736 140793736 38 NBL diagnosis snv HBS1L splice_region G533_E14splice_region NM_006620 30-PAPWUC HBS1L ACCEPTOR SNP Somatic -7 0.057 SQHIGH 8 30 38 0 48 48 Cosmic_Gene A A C A A TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 10767 6 135300416 135300416 30 NBL diagnosis snv AMPH silent R290R NM_001635 30-PAPWUC AMPH SYNONYMOUS SNP dbsnp.134:rs145345136 Somatic -2 0.089 SQHIGH 7 39 46 1 56 57 Cosmic_Gene C C T C C TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 273 7 38502593 38502593 19 NBL diagnosis snv SH2D3C missense R445H NM_170600 30-PAPWUC SH2D3C MISSENSE SNP Somatic -1 0.098 SQHIGH 6 30 36 0 28 28 Cosmic_Gene C C T C C TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 10044 9 130507309 130507309 16 NBL diagnosis snv AQP11 silent S222S NM_173039 30-PAPWUC AQP11 SYNONYMOUS SNP Somatic PFAM:PF00230:MIP 10 0.335 SQHIGH 7 17 24 0 35 35 G G C G G TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 282679 11 77314647 77314647 30 NBL diagnosis snv AQP6 missense F233L NM_001652 30-PAPWUC AQP6 MISSENSE SNP Somatic -6 0.062 SQHIGH 7 40 47 0 47 47 C C G C C TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 363 12 50369304 50369304 22 NBL diagnosis snv KHNYN splice E494_E4splice NM_015299 30-PAPWUC CBLN3|KHNYN TSS-UPSTREAM|DISRUPT SNP Somatic -2 0.089 SQHIGH 5 37 42 0 37 37 Cosmic_Gene T T A T T TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 643866|23351 14 24902060 24902060 14 NBL diagnosis snv LOC727896 EXON E4_exon NM_014646 30-PAPWUC LPIN2|LOC727896 INTRON|UTR SNP Somatic -5 0.067 SQHIGH 5 31 36 0 27 27 Cosmic_Gene G G T G G TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 9663|727896 18 2945559 2945559 13 NBL diagnosis snv ATP13A2 missense G49S NM_022089 30-PAPZYP ATP13A2 MISSENSE SNP dbsnp.129:rs56379718 Somatic PFAM:PF12409:P5-ATPase 20 0.999 SQHIGH 29 8 37 0 52 52 Cosmic_Gene C C T C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 23400 1 17332012 17332012 158 NBL diagnosis snv CD84 missense R84W NM_003874 30-PAPZYP CD84 INTRON,MISSENSE SNP Somatic 13 0.480 SQHIGH 12 27 39 0 25 25 COSMIC:mut:70096 Cosmic_Gene G G A G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 8832 1 160535332 160535332 29 NBL diagnosis snv KIF26B nonsense E278* NM_018012 30-PAPZYP KIF26B NONSENSE SNP Somatic 4 0.164 SQHIGH 22 43 65 0 49 49 Cosmic_Gene G G T G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 55083 1 245530502 245530502 62 NBL diagnosis snv SMC6 missense D1069N NM_001142286 30-PAPZYP SMC6 MISSENSE SNP Somatic -4 0.077 SQHIGH 622 18 640 0 15 15 Cosmic_Gene C T T C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 79677 2 17846837 17846837 210 NBL diagnosis snv SULT1C2 splice_region D200_E7splice_region NM_001056 30-PAPZYP SULT1C2 ACCEPTOR SNP Somatic 17 0.861 SQHIGH 39 30 69 0 59 59 Cosmic_Gene G G A G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 6819 2 108921867 108921867 136 NBL diagnosis snv NGEF missense P215L NM_019850 30-PAPZYP NGEF MISSENSE SNP Somatic 11 0.372 SQHIGH 46 34 80 0 58 58 Cosmic_Gene G G A G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 25791 2 233785178 233785178 144 NBL diagnosis snv DNAJB11 nonsense R206* NM_016306 30-PAPZYP DNAJB11 NONSENSE SNP Somatic 0 0.111 SQHIGH 16 17 33 1 22 23 Cosmic_Gene C C T C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 51726 3 186299800 186299800 35 NBL diagnosis snv MUC4 silent V4597V NM_018406 30-PAPZYP MUC4 SYNONYMOUS SNP Somatic PFAM:PF03782:AMOP 15 0.669 SQHIGH 35 24 59 0 51 51 G G T G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 4585 3 195492148 195492148 125 NBL diagnosis snv PCDHGA3 silent P584P NM_018916 30-PAPZYP PCDHGA3|PCDHGB1|PCDHGA2|PCDHGA1 SYNONYMOUS|TSS-UPSTREAM|INTRON|INTRON SNP Somatic 13 0.480 SQHIGH 25 24 49 0 29 29 Cosmic_Gene C C T C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 56112|56104|56113|56114 5 140725352 140725352 64 NBL diagnosis snv CTD-2270F17.1 EXON E1_exon NM_004137 30-PAPZYP KCNMB1|KCNIP1 UTR5|INTRON SNP Somatic -5 0.071 SQHIGH 12 69 81 0 62 62 Cosmic_Gene G G A G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 3779|30820 5 169816584 169816584 31 NBL diagnosis snv GNB2L1 missense D294G NM_006098 30-PAPZYP LOC100289627|GNB2L1 TSS-UPSTREAM|MISSENSE SNP Somatic 6 0.210 SQHIGH 6 30 36 0 27 27 T T C T T TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 100289627|10399 5 180664616 180664616 15 NBL diagnosis snv CUL9 missense A447G NM_015089 30-PAPZYP CUL9 MISSENSE SNP Somatic 11 0.372 SQHIGH 30 23 53 0 34 34 Cosmic_Gene C C G C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 23113 6 43154786 43154786 85 NBL diagnosis snv TINAG silent P96P NM_014464 30-PAPZYP TINAG SYNONYMOUS SNP Somatic PFAM:PF01033:Somatomedin_B 17 0.861 SQHIGH 26 17 43 0 64 64 Cosmic_Gene T T C T T TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 27283 6 54173636 54173636 131 NBL diagnosis snv RPS6KA2 missense A338S NM_021135 30-PAPZYP RPS6KA2 MISSENSE SNP Somatic -2 0.091 SQHIGH 9 40 49 0 37 37 Cosmic_Gene C C A C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 6196 6 166873000 166873000 23 NBL diagnosis snv SAMD9L missense W1133L NM_152703 30-PAPZYP SAMD9L MISSENSE SNP Somatic 6 0.210 SQHIGH 21 40 61 0 57 57 Cosmic_Gene C C A C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 219285 7 92761887 92761887 69 NBL diagnosis snv CHRNA2 missense L222M NM_000742 30-PAPZYP CHRNA2 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 14 0.560 SQHIGH 31 27 58 1 52 53 Cosmic_Gene G G T G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 1135 8 27321296 27321296 97 NBL diagnosis snv LOC102723701 EXON E1_exon NM_007175 30-PAPZYP ERLIN2 UTR5,TSS-UPSTREAM SNP Somatic 3 0.149 SQHIGH 12 39 51 0 52 52 C C A C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 11160 8 37594167 37594167 40 NBL diagnosis snv ALAD splice_region G311_E12splice_region NM_000031 30-PAPZYP ALAD ACCEPTOR SNP Somatic 6 0.210 SQHIGH 21 41 62 0 64 64 G G T G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 210 9 116150649 116150649 74 NBL diagnosis snv LOC100129034 EXON E8_exon NM_002799 30-PAPZYP PSMB7|LOC100129034 UTR3|UTR SNP Somatic 14 0.560 SQHIGH 28 36 64 0 61 61 G G A G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 5695|100129034 9 127115792 127115792 98 NBL diagnosis snv LRSAM1 missense T145I NM_138361 30-PAPZYP LRSAM1 MISSENSE SNP Somatic -5 0.071 SQHIGH 8 50 58 0 81 81 C C T C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 90678 9 130224558 130224558 32 NBL diagnosis snv KIF20B missense R953H NM_016195 30-PAPZYP KIF20B MISSENSE SNP Somatic PFAM:PF12128:DUF3584 -5 0.071 SQHIGH 6 24 30 1 54 55 Cosmic_Gene G G A G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 9585 10 91497576 91497576 22 NBL diagnosis snv LRP4 silent R1170R NM_002334 30-PAPZYP LRP4 SYNONYMOUS SNP Somatic 11 0.372 SQHIGH 38 45 83 0 67 67 Cosmic_Gene G G T G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 4038 11 46898045 46898045 119 NBL diagnosis snv RBM14 missense Y635C NM_006328 30-PAPZYP RBM14-RBM4|RBM14 INTRON|UTR3,MISSENSE SNP Somatic 4 0.164 SQHIGH 28 43 71 0 67 67 Cosmic_Gene A A G A A TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 100526737|10432 11 66394033 66394033 95 NBL diagnosis snv LRFN4 missense Q194H NM_024036 30-PAPZYP LRFN4|PC MISSENSE|INTRON SNP Somatic 16 0.736 SQHIGH 33 26 59 1 40 41 Cosmic_Gene G G T G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 78999|5091 11 66625797 66625797 85 NBL diagnosis snv CCDC88C missense D1694G NM_001080414 30-PAPZYP CCDC88C MISSENSE SNP Somatic -6 0.066 SQHIGH 5 27 32 0 22 22 Cosmic_Gene T T C T T TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 440193 14 91739975 91739975 12 NBL diagnosis snv PRM2 silent H29H NM_002762 30-PAPZYP PRM2|PRM3 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 8 0.262 SQHIGH 20 27 47 0 18 18 G G A G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 5620|58531 16 11370141 11370141 35 NBL diagnosis snv CHST4 missense A280D NM_005769 30-PAPZYP CHST4 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 1 0.123 SQHIGH 10 41 51 0 55 55 C C A C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 10164 16 71571419 71571419 34 NBL diagnosis snv KARS silent L29L NM_001130089 30-PAPZYP KARS|TERF2IP SYNONYMOUS,INTRON|TSS-UPSTREAM SNP Somatic 7 0.235 SQHIGH 34 27 61 1 63 64 Cosmic_Gene C C T C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 3735|54386 16 75678240 75678240 121 NBL diagnosis snv ERBB2 missense P1149S NM_004448 30-PAPZYP ERBB2 MISSENSE SNP Somatic 7 0.235 SQHIGH 23 22 45 0 43 43 Cosmic_Gene C C T C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 2064 17 37883974 37883974 83 NBL diagnosis snv CACNA1G missense L465P NM_018896 30-PAPZYP CACNA1G MISSENSE SNP Somatic 0 0.111 SQHIGH 8 13 21 0 18 18 Cosmic_Gene T T C T T TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 8913 17 48653157 48653157 25 NBL diagnosis snv EVPL silent V1465V NM_001988 30-PAPZYP EVPL SYNONYMOUS SNP Somatic 1 0.123 SQHIGH 33 68 101 0 61 61 Cosmic_Gene C C A C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 2125 17 74004891 74004891 78 NBL diagnosis snv VSIG10L missense P736S NM_001163922 30-PAPZYP VSIG10L MISSENSE SNP Somatic -10 0.048 SQHIGH 10 11 21 0 18 18 G G A G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 147645 19 51840591 51840591 33 NBL diagnosis snv LPIN3 missense T136K NM_022896 30-PAPZYP LPIN3 MISSENSE SNP Somatic 5 0.182 SQHIGH 27 38 65 0 48 48 Cosmic_Gene C C A C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 64900 20 39977377 39977377 78 NBL diagnosis snv RFPL1 missense S93I NM_021026 30-PAPZYP RFPL1-AS1|RFPL1 UTR|MISSENSE SNP dbsnp.129:rs61739565 Somatic PFAM:PF11002:RDM 15 0.669 SQHIGH 34 38 72 0 62 62 G G T G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 10740|5988 22 29835058 29835058 113 NBL diagnosis snv CACNA1I missense R1934W NM_021096 30-PAPZYP CACNA1I MISSENSE SNP Somatic 3 0.149 SQHIGH 11 51 62 0 52 52 Cosmic_Gene C C T C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 8911 22 40078636 40078636 31 NBL diagnosis snv CACNA1F missense A769D NM_005183 30-PAPZYP CACNA1F MISSENSE SNP Somatic 17 0.861 SQHIGH 28 17 45 0 41 41 Cosmic_Gene G G T G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 778 X 49078996 49078996 105 NBL diagnosis snv NAP1L2 missense L287Q NM_021963 30-PAPZYP NAP1L2 MISSENSE SNP Somatic -4 0.077 SQHIGH 7 48 55 0 85 85 Cosmic_Gene A A T A A TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 4674 X 72433469 72433469 29 NBL diagnosis snv OCRL missense N454Y NM_000276 30-PAPZYP OCRL MISSENSE SNP Somatic 8 0.262 SQHIGH 15 14 29 1 20 21 Cosmic_Gene A A T A A TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 4952 X 128701234 128701234 35 NBL diagnosis mnv TMEM164 missense S71_P72>RT NM_032227 30-PAPZYP TMEM164 INTRON,MISSENSE Sub Somatic 0 0.616 SQHIGH 28 44 72 0 66 66 Cosmic_Gene CC CC AA CC CC TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 84187 X 109247215 109247216 93 NBL diagnosis snv ACAP3 splice_region S605_E20splice_region NM_030649 30-PAPZYZ ACAP3 ACCEPTOR SNP Somatic 3 0.188 SQHIGH 6 9 15 0 31 31 C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 116983 1 1230205 1230205 33 NBL diagnosis snv CEP350 missense R460I NM_014810 30-PAPZYZ CEP350 MISSENSE SNP Somatic 0 0.140 SQHIGH 9 35 44 0 41 41 Cosmic_Gene G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 9857 1 179981196 179981196 28 NBL diagnosis snv IGFN1 silent V87V NM_001164586 30-PAPZYZ IGFN1 SYNONYMOUS SNP Somatic PFAM:PF00047:ig 15 0.716 SQHIGH 12 26 38 0 30 30 Cosmic_Gene G G A G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 91156 1 201165100 201165100 34 NBL diagnosis snv EFCAB2 splice G125_E8splice NM_032328 30-PAPZYZ EFCAB2 INTRON,MISSENSE,UTR SNP Somatic -9 0.061 SQHIGH 5 40 45 0 50 50 G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 84288 1 245250547 245250547 17 NBL diagnosis snv TACR1 missense N50H NM_001058 30-PAPZYZ TACR1 MISSENSE SNP Somatic 14 0.631 SQHIGH 36 43 79 0 66 66 Cosmic_Gene T T G T T TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 6869 2 75425913 75425913 116 NBL diagnosis snv DNAH6 nonsense E2988* NM_001370 30-PAPZYZ DNAH6 NONSENSE SNP Somatic PFAM:PF12777:MT -7 0.072 SQHIGH 8 44 52 0 65 65 Cosmic_Gene G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 1768 2 84934754 84934754 30 NBL diagnosis snv KCTD8 missense S367I NM_198353 30-PAPZYZ KCTD8 MISSENSE SNP Somatic 10 0.402 SQHIGH 19 27 46 0 33 33 Cosmic_Gene C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 386617 4 44177129 44177129 53 NBL diagnosis snv EXOC1 silent E247E NM_018261 30-PAPZYZ EXOC1 SYNONYMOUS SNP Somatic PFAM:PF09763:Sec3 4 0.208 SQHIGH 14 46 60 0 44 44 Cosmic_Gene A A G A A TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 55763 4 56736981 56736981 37 NBL diagnosis snv DNAH5 missense L313M NM_001369 30-PAPZYZ DNAH5 MISSENSE SNP Somatic PFAM:PF08385:DHC_N1 -4 0.093 SQHIGH 5 12 17 0 20 20 Cosmic_Gene G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 1767 5 13919323 13919323 18 NBL diagnosis snv CAMK2A missense D156Y NM_015981 30-PAPZYZ CAMK2A MISSENSE SNP Somatic 17 0.865 SQHIGH 14 24 38 2 39 41 Cosmic_Gene C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 815 5 149633055 149633055 34 NBL diagnosis snv TIAM2 missense Q1311K NM_012454 30-PAPZYZ TIAM2 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 11 0.450 SQHIGH 16 15 31 0 33 33 Cosmic_Gene C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 26230 6 155571083 155571083 62 NBL diagnosis snv NPSR1 missense Q162K NM_207172 30-PAPZYZ AAA1|NPSR1 INTRON|MISSENSE SNP Somatic PFAM:PF00001:7tm_1 1 0.153 SQHIGH 11 40 51 0 58 58 Cosmic_Gene C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 404744|387129 7 34867018 34867018 39 NBL diagnosis snv CNTNAP2 nonsense E733* NM_014141 30-PAPZYZ CNTNAP2 NONSENSE SNP Somatic 5 0.240 SQHIGH 10 20 30 0 19 19 Cosmic_Gene G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 26047 7 147600755 147600755 24 NBL diagnosis snv MLLT10 missense E488D NM_004641 30-PAPZYZ MLLT10 MISSENSE SNP Somatic 8 0.327 SQHIGH 21 14 35 0 40 40 Cosmic_Gene G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 8028 10 21962691 21962691 90 NBL diagnosis snv KIF20B splice M1_E2splice NM_016195 30-PAPZYZ KIF20B DISRUPT SNP Somatic 16 0.781 SQHIGH 18 12 30 0 32 32 Cosmic_Gene G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 9585 10 91465050 91465050 73 NBL diagnosis snv DMBT1 splice_region D1122_E29splice_region NM_004406 30-PAPZYZ DMBT1 INTRON SNP Somatic 4 0.208 SQHIGH 15 41 56 0 47 47 Cosmic_Gene C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 1755 10 124384829 124384829 44 NBL diagnosis snv FADS2 splice L360_E10splice NM_004265 30-PAPZYZ FADS2 DISRUPT SNP Somatic -1 0.126 SQHIGH 9 32 41 1 59 60 Cosmic_Gene G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 9415 11 61631178 61631178 29 NBL diagnosis snv RSRC2 missense R136H NM_023012 30-PAPZYZ RSRC2 MISSENSE,UTR SNP Somatic 14 0.631 SQHIGH 12 24 36 0 44 44 Cosmic_Gene C C T C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 65117 12 123001969 123001969 47 NBL diagnosis snv KBTBD7 missense P445S NM_032138 30-PAPZYZ KBTBD7 MISSENSE SNP Somatic PFAM:PF01344:Kelch_1 -3 0.103 SQHIGH 14 41 55 0 54 54 Cosmic_Gene G G A G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 84078 13 41767061 41767061 46 NBL diagnosis snv TNRC6A silent P1438P NM_014494 30-PAPZYZ TNRC6A SYNONYMOUS SNP Somatic -7 0.072 SQHIGH 5 7 12 0 20 20 Cosmic_Gene G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 27327 16 24817589 24817589 24 NBL diagnosis snv AIPL1 splice_region V33_E2splice_region NM_014336 30-PAPZYZ AIPL1 ACCEPTOR,INTRON SNP Somatic 8 0.327 SQHIGH 12 24 36 0 35 35 C C G C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 23746 17 6337426 6337426 40 NBL diagnosis snv FXR2 missense S210C NM_004860 30-PAPZYZ FXR2 MISSENSE SNP Somatic 12 0.502 SQHIGH 10 19 29 0 39 39 G G C G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 9513 17 7504758 7504758 42 NBL diagnosis snv KRT12 missense E270D NM_000223 30-PAPZYZ KRT12 MISSENSE SNP Somatic PFAM:PF00038:Filament -1 0.126 SQHIGH 8 34 42 0 29 29 Cosmic_Gene C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 3859 17 39020114 39020114 20 NBL diagnosis snv LLGL2 silent S171S NM_004524 30-PAPZYZ LLGL2 SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 17 0.865 SQHIGH 19 19 38 0 31 31 Cosmic_Gene G G T G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 3993 17 73555474 73555474 61 NBL diagnosis snv SLC26A11 splice_region R432_E13splice_region NM_001166347 30-PAPZYZ SLC26A11 INTRON SNP Somatic -3 0.103 SQHIGH 10 38 48 0 22 22 C C G C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 284129 17 78220456 78220456 18 NBL diagnosis snv DTNA missense N282K NM_001390 30-PAPZYZ DTNA INTRON,TSS-UPSTREAM,UTR5,MISSENSE SNP Somatic 17 0.865 SQHIGH 37 23 60 0 73 73 C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 1837 18 32398264 32398264 167 NBL diagnosis snv TUBB4A missense E27K NM_006087 30-PAPZYZ TUBB4A MISSENSE SNP Somatic 6 0.269 SQHIGH 17 43 60 0 82 82 Cosmic_Gene C C T C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 10382 19 6501613 6501613 70 NBL diagnosis snv MARK4 missense G234R NM_031417 30-PAPZYZ MARK4 MISSENSE SNP Somatic PFAM:PF03109:ABC1 2 0.171 SQHIGH 8 25 33 1 38 39 Cosmic_Gene G G A G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 57787 19 45774880 45774880 22 NBL diagnosis snv GAL3ST1 missense H310D NM_004861 30-PAPZYZ GAL3ST1 MISSENSE SNP Somatic PFAM:PF03567:Sulfotransfer_2 6 0.269 SQHIGH 15 29 44 1 35 36 G G C G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 9514 22 30951284 30951284 35 NBL diagnosis snv TCEANC missense D33H NM_152634 30-PAPZYZ TCEANC MISSENSE SNP Somatic 7 0.297 SQHIGH 25 35 60 1 53 54 Cosmic_Gene G G C G G TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 170082 X 13680634 13680634 71 NBL diagnosis snv FRMPD3 silent R1308R NM_032428 30-PAPZYZ FRMPD3 SYNONYMOUS SNP Somatic 1 0.153 SQHIGH 5 21 26 0 27 27 Cosmic_Gene C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 84443 X 106845094 106845094 16 NBL diagnosis snv OCRL missense P873H NM_000276 30-PAPZYZ OCRL MISSENSE SNP Somatic 5 0.240 SQHIGH 21 39 60 0 52 52 Cosmic_Gene C C A C C TARGET-30-PAPZYZ-01A-01D TARGET-30-PAPZYZ-10A-01D 4952 X 128724159 128724159 66 NBL diagnosis snv PTPN22 missense D249Y NM_015967 30-PARABN PTPN22|LOC100287722 MISSENSE|TSS-UPSTREAM SNP Somatic 4 0.174 SQHIGH 7 25 32 0 32 32 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 26191|100287722 1 114397098 114397098 23 NBL diagnosis snv S100A12 silent Y87Y NM_005621 30-PARABN S100A12 SYNONYMOUS SNP Somatic 5 0.192 SQHIGH 16 53 69 0 47 47 G G A G G TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 6283 1 153346321 153346321 40 NBL diagnosis snv FCRL1 splice_region A396_E9splice_region NM_052938 30-PARABN FCRL1 INTRON,DONOR SNP Somatic 2 0.142 SQHIGH 31 68 99 0 40 40 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 115350 1 157767655 157767655 53 NBL diagnosis snv RABGAP1L splice_region K608_E14splice_region NM_014857 30-PARABN RABGAP1L INTRON SNP Somatic 6 0.221 SQHIGH 16 49 65 0 50 50 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 9910 1 174606635 174606635 44 NBL diagnosis snv SMYD2 missense Q361K NM_020197 30-PARABN SMYD2 MISSENSE SNP Somatic 2 0.142 SQHIGH 12 54 66 0 51 51 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 56950 1 214505504 214505504 32 NBL diagnosis snv PROKR1 silent I272I NM_138964 30-PARABN PROKR1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 2 0.142 SQHIGH 7 32 39 0 28 28 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 10887 2 68882342 68882342 18 NBL diagnosis snv FHL2 missense S25I NM_001450 30-PARABN FHL2 MISSENSE SNP Somatic PFAM:PF00412:LIM 14 0.561 SQHIGH 18 27 45 0 47 47 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 2274 2 106002900 106002900 65 NBL diagnosis snv LRP2 silent P4194P NM_004525 30-PARABN LRP2 SYNONYMOUS SNP Somatic PFAM:PF00058:Ldl_recept_b 1 0.128 SQHIGH 9 31 40 0 46 46 Cosmic_Gene G G T G G TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 4036 2 170007416 170007416 32 NBL diagnosis snv INPP1 nonsense Y305* NM_001128928 30-PARABN INPP1 NONSENSE SNP Somatic -7 0.062 SQHIGH 9 55 64 0 53 53 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 3628 2 191235843 191235843 25 NBL diagnosis snv KLC4 missense P302L NM_138343 30-PARABN KLC4 INTRON,MISSENSE SNP Somatic -5 0.073 SQHIGH 5 40 45 0 35 35 Cosmic_Gene C C T C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 89953 6 43034847 43034847 13 NBL diagnosis snv PHF3 silent Q1070Q NM_015153 30-PARABN PHF3 SYNONYMOUS SNP Somatic 5 0.192 SQHIGH 6 26 32 0 45 45 Cosmic_Gene G G A G G TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 23469 6 64412508 64412508 24 NBL diagnosis snv SLC18B1 missense G419V NM_052831 30-PARABN SLC18B1 MISSENSE SNP Somatic 4 0.174 SQHIGH 8 30 38 0 35 35 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 116843 6 133092077 133092077 24 NBL diagnosis snv CRB2 missense A471S NM_173689 30-PARABN CRB2 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin 8 0.274 SQHIGH 12 26 38 0 33 33 Cosmic_Gene G G T G G TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 286204 9 126132743 126132743 37 NBL diagnosis snv LAMC3 missense R1073W NM_006059 30-PARABN LAMC3 MISSENSE SNP Somatic -3 0.087 SQHIGH 7 29 36 1 43 44 Cosmic_Gene C C T C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 10319 9 133948022 133948022 19 NBL diagnosis snv PRKCQ missense E40D NM_006257 30-PARABN PRKCQ MISSENSE SNP Somatic PFAM:PF00168:C2 7 0.247 SQHIGH 8 26 34 0 36 36 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 5588 10 6553155 6553155 27 NBL diagnosis snv MYPN missense S1008C NM_032578 30-PARABN MYPN MISSENSE SNP Somatic 20 0.994 SQHIGH 20 14 34 0 38 38 Cosmic_Gene C C G C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 84665 10 69954217 69954217 84 NBL diagnosis snv FAS missense A70D NM_000043 30-PARABN FAS INTRON,MISSENSE,UTR SNP Somatic -2 0.096 SQHIGH 7 35 42 0 48 48 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 355 10 90767469 90767469 24 NBL diagnosis snv HSP90B1 splice E703_E16splice NM_003299 30-PARABN HSP90B1 ACCEPTOR SNP Somatic 0 0.117 SQHIGH 9 39 48 0 34 34 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 7184 12 104340561 104340561 22 NBL diagnosis snv TRPC4 silent P128P NM_016179 30-PARABN TRPC4 SYNONYMOUS,INTRON SNP Somatic 4 0.174 SQHIGH 9 31 40 0 36 36 Cosmic_Gene A A T A A TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 7223 13 38320587 38320587 27 NBL diagnosis snv CHRM5 missense A366E NM_012125 30-PARABN CHRM5 MISSENSE SNP Somatic -1 0.105 SQHIGH 18 25 43 0 24 24 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 1133 15 34356015 34356015 42 NBL diagnosis snv PDPR missense D364Y NM_017990 30-PARABN PDPR MISSENSE SNP Somatic 4 0.174 SQHIGH 14 41 55 1 62 63 Cosmic_Gene G G T G G TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 55066 16 70170189 70170189 41 NBL diagnosis snv ACSF3 silent S73S NM_174917 30-PARABN ACSF3 SYNONYMOUS,INTRON SNP Somatic PFAM:PF04443:LuxE 11 0.379 SQHIGH 15 16 31 0 39 39 C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 197322 16 89167308 89167308 64 NBL diagnosis snv DNAH9 missense V1459F NM_001372 30-PARABN DNAH9 MISSENSE SNP Somatic PFAM:PF08393:DHC_N2 0 0.117 SQHIGH 9 44 53 0 68 68 Cosmic_Gene G G T G G TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 1770 17 11593514 11593514 34 NBL diagnosis snv COX11 silent G8G NM_004375 30-PARABN COX11|STXBP4 SYNONYMOUS,UTR|TSS-UPSTREAM SNP Somatic -6 0.068 SQHIGH 9 45 54 1 54 55 Cosmic_Gene T T C T T TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 1353|252983 17 53045984 53045984 21 NBL diagnosis snv ATP5A1 missense I408V NM_001001937 30-PARABN ATP5A1 MISSENSE SNP Somatic 10 0.339 SQHIGH 11 20 31 0 29 29 T T C T T TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 498 18 43666415 43666415 36 NBL diagnosis snv ACSBG2 silent G75G NM_030924 30-PARABN ACSBG2 SYNONYMOUS SNP Somatic 4 0.174 SQHIGH 40 13 53 0 50 50 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 81616 19 6147614 6147614 169 NBL diagnosis snv ANKRD27 silent L312L NM_032139 30-PARABN ANKRD27 SYNONYMOUS SNP Somatic PFAM:PF02204:VPS9 -10 0.049 SQHIGH 6 31 37 0 40 40 Cosmic_Gene C C A C C TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 84079 19 33131260 33131260 20 NBL diagnosis mnv TSHZ1 missense P64V NM_005786 30-PARABN TSHZ1 MISSENSE Sub Somatic -8 0.289 SQHIGH 3 10 13 0 30 30 CC CC GT CC CC TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 10194 18 72997687 72997688 16 NBL diagnosis snv BAI2 missense A483T NM_001294335 30-PARACM BAI2 MISSENSE SNP Somatic 13 0.586 SQHIGH 13 26 39 0 32 32 Cosmic_Gene C C T C C TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 576 1 32207539 32207539 39 NBL diagnosis snv TCHH missense R986W NM_007113 30-PARACM TCHH MISSENSE SNP Somatic -9 0.064 SQHIGH 6 16 22 0 22 22 Cosmic_Gene G G A G G TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 7062 1 152082737 152082737 20 NBL diagnosis snv F5 missense W306C NM_000130 30-PARACM F5 MISSENSE SNP Somatic 3 0.210 SQHIGH 11 37 48 0 22 22 Cosmic_Gene C C A C C TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 2153 1 169525918 169525918 20 NBL diagnosis snv SPHKAP missense M1103I NM_001142644 30-PARACM SPHKAP MISSENSE SNP Somatic 3 0.210 SQHIGH 9 14 23 0 23 23 Cosmic_Gene C C A C C TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 80309 2 228882261 228882261 31 NBL diagnosis snv PPEF2 nonsense E437* NM_006239 30-PARACM PPEF2 NONSENSE SNP Somatic PFAM:PF09587:PGA_cap 3 0.210 SQHIGH 11 30 41 0 22 22 Cosmic_Gene C C A C C TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 5470 4 76797451 76797451 23 NBL diagnosis snv TTC29 silent A253A NM_031956 30-PARACM TTC29 SYNONYMOUS SNP Somatic -6 0.085 SQHIGH 5 27 32 0 33 34 G G T G G TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 83894 4 147795908 147795908 16 NBL diagnosis snv NR3C2 silent V372V NM_000901 30-PARACM NR3C2 SYNONYMOUS SNP Somatic 2 0.192 SQHIGH 9 32 41 0 36 36 Cosmic_Gene G G C G G TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 4306 4 149356897 149356897 27 NBL diagnosis snv ARMC12 nonsense C337* NM_145028 30-PARACM ARMC12 NONSENSE SNP Somatic 4 0.233 SQHIGH 15 29 44 0 33 33 Cosmic_Gene C C A C C TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 221481 6 35716554 35716554 42 NBL diagnosis snv ADAMTS14 missense R1150P NM_139155 30-PARACM ADAMTS14 MISSENSE SNP Somatic 7 0.317 SQHIGH 21 17 38 1 33 34 Cosmic_Gene G G C G G TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 140766 10 72520377 72520377 63 NBL diagnosis snv OR8B12 missense F93L NM_001005195 30-PARACM OR8B12 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 10 0.426 SQHIGH 20 35 55 0 65 65 Cosmic_Gene G G T G G TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 219858 11 124413272 124413272 78 NBL diagnosis snv OR8B12 silent S92S NM_001005195 30-PARACM OR8B12 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 9 0.387 SQHIGH 20 31 51 0 64 64 Cosmic_Gene G G A G G TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 219858 11 124413275 124413275 82 NBL diagnosis snv NCOR2 missense D663N NM_006312 30-PARACM NCOR2 MISSENSE SNP Somatic -2 0.127 SQHIGH 8 32 40 0 38 38 Cosmic_Gene C C T C C TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 9612 12 124870323 124870323 25 NBL diagnosis snv HS6ST3 missense D413H NM_153456 30-PARACM HS6ST3 MISSENSE SNP Somatic -8 0.070 SQHIGH 6 42 48 0 40 40 Cosmic_Gene G G C G G TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 266722 13 97485273 97485273 16 NBL diagnosis snv STAT5B nonsense G452* NM_012448 30-PARACM STAT5B NONSENSE SNP Somatic PFAM:PF02864:STAT_bind 8 0.350 SQHIGH 12 36 48 0 28 28 Cosmic_Gene C C A C C TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 6777 17 40369204 40369204 26 NBL diagnosis snv CHST8 missense Q153K NM_001127896 30-PARACM CHST8 MISSENSE SNP Somatic -2 0.127 SQHIGH 14 10 24 0 17 17 Cosmic_Gene C C A C C TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 64377 19 34263150 34263150 43 NBL diagnosis snv LILRB4 missense G42E NM_001278426 30-PARACM LILRB4 MISSENSE SNP Somatic 3 0.210 SQHIGH 17 33 50 0 32 32 Cosmic_Gene G G A G G TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 11006 19 55175266 55175266 42 NBL diagnosis snv ALAS2 missense A519P NM_000032 30-PARACM ALAS2 MISSENSE SNP Somatic -2 0.127 SQHIGH 14 14 28 0 19 19 Cosmic_Gene C C G C C TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 212 X 55039964 55039964 39 NBL diagnosis snv SPANXN2 missense Y55H NM_001009615 30-PARACM SPANXN2 MISSENSE SNP Somatic PFAM:PF07458:SPAN-X 18 0.940 SQHIGH 20 17 37 0 34 34 Cosmic_Gene A A G A A TARGET-30-PARACM-01A-01D TARGET-30-PARACM-10A-01D 494119 X 142795515 142795515 72 NBL diagnosis snv CROCC missense D1144Y NM_014675 30-PARACS CROCC MISSENSE SNP Somatic 1 0.126 SQHIGH 9 32 41 0 29 29 Cosmic_Gene G G T G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 9696 1 17281337 17281337 23 NBL diagnosis snv KIF21B silent T1483T NM_017596 30-PARACS KIF21B SYNONYMOUS SNP Somatic -8 0.061 SQHIGH 11 47 58 1 66 67 Cosmic_Gene A A G A A TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 23046 1 200944753 200944753 30 NBL diagnosis snv ENAH missense S125P NM_001008493 30-PARACS ENAH MISSENSE SNP Somatic -8 0.061 SQHIGH 5 20 25 0 27 27 Cosmic_Gene A A G A A TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 55740 1 225718317 225718317 17 NBL diagnosis snv EDAR missense G338E NM_022336 30-PARACS EDAR MISSENSE SNP Somatic 6 0.223 SQHIGH 18 43 61 0 45 45 Cosmic_Gene C C T C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 10913 2 109522775 109522775 49 NBL diagnosis snv NXPH2 missense P227H NM_007226 30-PARACS NXPH2 MISSENSE SNP Somatic PFAM:PF06312:Neurexophilin 5 0.190 SQHIGH 16 34 50 0 54 54 Cosmic_Gene G G T G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 11249 2 139428607 139428607 57 NBL diagnosis snv CACNB4 missense E113G NM_001005747 30-PARACS CACNB4 MISSENSE SNP Somatic PFAM:PF00018:SH3_1 -5 0.076 SQHIGH 6 23 29 1 33 34 Cosmic_Gene T T C T T TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 785 2 152733021 152733021 15 NBL diagnosis snv SDPR nonsense Q328* NM_004657 30-PARACS SDPR NONSENSE SNP Somatic 11 0.381 SQHIGH 30 38 68 1 70 71 Cosmic_Gene G G A G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 8436 2 192700945 192700945 98 NBL diagnosis snv SATB2 missense S39G NM_015265 30-PARACS SATB2|LOC100288092 MISSENSE|TSS-UPSTREAM SNP Somatic -1 0.105 SQHIGH 9 8 17 1 27 28 Cosmic_Gene T T C T T TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 23314|100288092 2 200320646 200320646 37 NBL diagnosis snv FBLN2 missense E995G NM_001004019 30-PARACS FBLN2 MISSENSE SNP Somatic -8 0.061 SQHIGH 6 26 32 0 35 35 Cosmic_Gene A A G A A TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 2199 3 13672214 13672214 20 NBL diagnosis snv VILL missense Q440K NM_015873 30-PARACS VILL MISSENSE SNP Somatic PFAM:PF00626:Gelsolin 6 0.223 SQHIGH 16 37 53 0 58 58 C C A C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 50853 3 38043082 38043082 57 NBL diagnosis snv NPFFR2 missense L331M NM_004885 30-PARACS NPFFR2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 12 0.432 SQHIGH 25 28 53 0 67 67 Cosmic_Gene C C A C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 10886 4 73012951 73012951 107 NBL diagnosis snv ARHGEF28 missense A293G NM_001080479 30-PARACS ARHGEF28 MISSENSE SNP Somatic 13 0.487 SQHIGH 30 31 61 1 57 58 C C G C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 64283 5 73076538 73076538 94 NBL diagnosis snv PKD2L2 missense I248F NM_014386 30-PARACS PKD2L2 MISSENSE SNP Somatic PFAM:PF08016:PKD_channel 7 0.251 SQHIGH 14 17 31 1 27 28 A A T A A TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 27039 5 137235422 137235422 37 NBL diagnosis snv PDGFRB missense L454P NM_002609 30-PARACS PDGFRB MISSENSE SNP Somatic PFAM:PF00047:ig -6 0.071 SQHIGH 6 34 40 0 53 53 Cosmic_Gene A A G A A TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 5159 5 149510108 149510108 23 NBL diagnosis snv HOXA10-AS EXON E2_exon NM_018951 30-PARACS HOXA10-HOXA9|MIR196B|HOXA10 INTRON|TSS-UPSTREAM|UTR3,UTR SNP Somatic 16 0.721 SQHIGH 12 27 39 0 36 36 C C G C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 100534589|442920|3206 7 27211173 27211173 38 NBL diagnosis snv CYP3A5 splice_region R418_E11splice_region NM_000777 30-PARACS CYP3A5 INTRON SNP Somatic 5 0.190 SQHIGH 15 18 33 1 38 39 G G T G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 1577 7 99250167 99250167 50 NBL diagnosis snv GIMAP8 missense M8I NM_175571 30-PARACS GIMAP8 MISSENSE SNP Somatic 4 0.173 SQHIGH 17 46 63 1 48 49 Cosmic_Gene G G A G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 155038 7 150163810 150163810 37 NBL diagnosis snv NPY4R missense V306L NM_005972 30-PARACS NPY4R MISSENSE SNP Somatic PFAM:PF00001:7tm_1 0 0.115 SQHIGH 26 176 202 0 207 207 Cosmic_Gene G G C G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 5540 10 47087699 47087699 83 NBL diagnosis snv SORCS3 silent K880K NM_014978 30-PARACS SORCS3 SYNONYMOUS SNP Somatic PFAM:PF00801:PKD -7 0.065 SQHIGH 10 55 65 1 47 48 Cosmic_Gene G G A G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 22986 10 106976786 106976786 18 NBL diagnosis snv OR52N2 missense L202M NM_001005174 30-PARACS OR52N2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 11 0.381 SQHIGH 24 28 52 2 59 61 Cosmic_Gene C C A C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 390077 11 5842169 5842169 75 NBL diagnosis snv OR4A5 missense T189I NM_001005272 30-PARACS OR4A5 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 3 0.155 SQHIGH 22 46 68 0 42 42 Cosmic_Gene G G A G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 81318 11 51411830 51411830 53 NBL diagnosis snv NFRKB silent T1157T NM_001143835 30-PARACS NFRKB SYNONYMOUS SNP Somatic 12 0.432 SQHIGH 27 5 32 1 44 45 Cosmic_Gene T T A T T TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 4798 11 129739449 129739449 139 NBL diagnosis snv SGCG splice_region V99_E3splice_region NM_000231 30-PARACS SGCG DONOR SNP Somatic 12 0.432 SQHIGH 8 9 17 0 21 21 G G T G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 6445 13 23808856 23808856 33 NBL diagnosis snv UGGT2 nonsense Q96* NM_020121 30-PARACS UGGT2 NONSENSE SNP Somatic 1 0.126 SQHIGH 9 13 22 1 20 21 Cosmic_Gene G G A G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 55757 13 96675969 96675969 22 NBL diagnosis snv LUC7L silent A74A NM_018032 30-PARACS LUC7L SYNONYMOUS SNP Somatic PFAM:PF03194:LUC7 9 0.306 SQHIGH 26 34 60 0 58 58 Cosmic_Gene T T A T T TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 55692 16 270681 270681 91 NBL diagnosis snv TMC8 missense P524H NM_152468 30-PARACS TMC8 MISSENSE SNP Somatic 3 0.155 SQHIGH 18 65 83 2 40 42 C C A C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 147138 17 76134467 76134467 20 NBL diagnosis snv VAPA missense E89K NM_003574 30-PARACS VAPA MISSENSE SNP Somatic PFAM:PF00635:Motile_Sperm 4 0.173 SQHIGH 14 16 30 0 33 33 G G A G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 9218 18 9936139 9936139 54 NBL diagnosis snv KATNAL2 missense M287I NM_031303 30-PARACS KATNAL2 MISSENSE SNP Somatic 12 0.432 SQHIGH 15 25 40 0 46 46 Cosmic_Gene G G C G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 83473 18 44601716 44601716 57 NBL diagnosis snv PNPLA6 silent G1160G NM_001166111 30-PARACS PNPLA6 SYNONYMOUS SNP Somatic 4 0.173 SQHIGH 23 22 45 0 30 30 Cosmic_Gene G G T G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 10908 19 7623788 7623788 65 NBL diagnosis snv KCNA7 missense V335L NM_031886 30-PARACS KCNA7 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans PFAM:PF07885:Ion_trans_2 10 0.340 SQHIGH 23 29 52 1 34 35 Cosmic_Gene C C G C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 3743 19 49573688 49573688 51 NBL diagnosis snv KLK14 missense S158T NM_022046 30-PARACS KLK14 MISSENSE SNP Somatic 11 0.381 SQHIGH 20 25 45 0 46 46 Cosmic_Gene A A T A A TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 43847 19 51582748 51582748 73 NBL diagnosis snv SIM2 splice E153_E4splice NM_005069 30-PARACS SIM2 DISRUPT SNP Somatic 17 0.836 SQHIGH 20 26 46 0 58 58 Cosmic_Gene G G T G G TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 6493 21 38092231 38092231 84 NBL diagnosis snv KRTAP10-4 missense S286C NM_198687 30-PARACS TSPEAR|KRTAP10-4 INTRON|MISSENSE SNP Somatic -2 0.096 SQHIGH 6 16 22 1 30 31 Cosmic_Gene C C G C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 54084|386672 21 45994492 45994492 18 NBL diagnosis snv AMPD2 missense A479V NM_004037 30-PARAHE AMPD2 MISSENSE SNP Somatic 14 0.597 SQHIGH 34 24 58 1 52 53 Cosmic_Gene C C T C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 271 1 110170898 110170898 111 NBL diagnosis snv SPATA45 missense P66A NM_001024601 30-PARAHE SPATA45 MISSENSE SNP Somatic 2 0.154 SQHIGH 11 53 64 0 66 66 G G C G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 149643 1 213009296 213009296 36 NBL diagnosis snv PRR30 missense N135K NM_178553 30-PARAHE C2orf53|PREB MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.241 SQHIGH 27 75 102 0 87 87 Cosmic_Gene G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 339779|10113 2 27360793 27360793 80 NBL diagnosis snv C2orf42 silent R411R NM_017880 30-PARAHE C2orf42 SYNONYMOUS SNP Somatic 9 0.330 SQHIGH 14 21 35 0 24 24 C C T C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 54980 2 70392679 70392679 38 NBL diagnosis snv MBD5 missense E1058G NM_018328 30-PARAHE MBD5 MISSENSE SNP Somatic -9 0.058 SQHIGH 9 49 58 1 67 68 Cosmic_Gene A A G A A TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 55777 2 149247073 149247073 24 NBL diagnosis snv RIF1 missense H2434Y NM_018151 30-PARAHE RIF1 MISSENSE SNP Somatic 6 0.241 SQHIGH 7 18 25 1 33 34 Cosmic_Gene C C T C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 55183 2 152331466 152331466 21 NBL diagnosis snv TTN missense S4290I NM_133378 30-PARAHE TTN INTRON,MISSENSE SNP Somatic PFAM:PF00047:ig 12 0.461 SQHIGH 13 35 48 0 51 51 Cosmic_Gene C C A C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 7273 2 179597187 179597187 45 NBL diagnosis snv BMP3 missense R66M NM_001201 30-PARAHE BMP3 MISSENSE SNP Somatic PFAM:PF00688:TGFb_propeptide 1 0.138 SQHIGH 11 51 62 0 65 65 Cosmic_Gene G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 651 4 81952635 81952635 36 NBL diagnosis snv BBS12 missense L169F NM_152618 30-PARAHE BBS12 MISSENSE SNP Somatic 10 0.368 SQHIGH 13 35 48 0 35 35 Cosmic_Gene G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 166379 4 123663554 123663554 34 NBL diagnosis snv PDZD2 silent G843G NM_178140 30-PARAHE PDZD2 SYNONYMOUS SNP dbsnp.134:rs147422972 Somatic 5 0.208 SQHIGH 16 44 60 1 70 71 Cosmic_Gene C C T C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 23037 5 32069752 32069752 49 NBL diagnosis snv PCDHB8 missense D324H NM_019120 30-PARAHE PCDHB16|PCDHB8 TSS-UPSTREAM|MISSENSE SNP Somatic -2 0.103 SQHIGH 30 164 194 0 204 204 Cosmic_Gene G G C G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 57717|56128 5 140558585 140558585 99 NBL diagnosis snv PHACTR1 missense S95Y NM_030948 30-PARAHE PHACTR1 MISSENSE SNP Somatic 8 0.299 SQHIGH 20 65 85 0 57 57 C C A C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 221692 6 13053630 13053630 49 NBL diagnosis snv ZNF165 splice D184_E4splice NM_003447 30-PARAHE ZSCAN12P1|ZNF165 TSS-UPSTREAM|DISRUPT SNP Somatic -6 0.075 SQHIGH 9 18 27 0 40 40 G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 221584|7718 6 28056340 28056340 40 NBL diagnosis snv PSMB8-AS1 EXON E10_exon NM_000593 30-PARAHE TAP1|PSMB8|LOC100507463 INTRON|TSS-UPSTREAM|UTR SNP Somatic -4 0.087 SQHIGH 4 20 24 0 29 29 Cosmic_Gene G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 6890|5696|100507463 6 32814193 32814193 14 NBL diagnosis snv TDRD6 missense A1329S NM_001010870 30-PARAHE TDRD6|LOC100131283 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00567:TUDOR 12 0.461 SQHIGH 12 28 40 0 46 46 Cosmic_Gene G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 221400|100131283 6 46659850 46659850 44 NBL diagnosis snv LOC101926962 EXON E1_exon NM_015234 30-PARAHE GPR116 INTRON SNP Somatic 3 0.170 SQHIGH 10 33 43 0 29 29 Cosmic_Gene G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 221395 6 46876733 46876733 24 NBL diagnosis snv GRB10 missense V433M NM_005311 30-PARAHE GRB10 MISSENSE SNP Somatic PFAM:PF08947:BPS 4 0.189 SQHIGH 23 49 72 0 78 78 Cosmic_Gene C C T C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 2887 7 50673079 50673079 83 NBL diagnosis snv OR2A14 missense T239I NM_001001659 30-PARAHE OR2A14 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -1 0.113 SQHIGH 19 100 119 0 87 87 C C T C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 135941 7 143826921 143826921 48 NBL diagnosis snv ADAMTSL1 silent A1102A NM_001040272 30-PARAHE ADAMTSL1 SYNONYMOUS SNP Somatic -2 0.103 SQHIGH 11 45 56 0 37 37 Cosmic_Gene C C G C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 92949 9 18777533 18777533 26 NBL diagnosis snv SCN4B missense A75T NM_174934 30-PARAHE SCN4B INTRON,UTR5,MISSENSE,UTR SNP Somatic PFAM:PF00047:ig -1 0.113 SQHIGH 6 33 39 1 57 58 Cosmic_Gene C C T C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 6330 11 118015783 118015783 18 NBL diagnosis snv TAS2R19 missense N31I NM_176888 30-PARAHE TAS2R19|PRH1-PRR4 MISSENSE|INTRON SNP Somatic PFAM:PF03402:V1R 7 0.270 SQHIGH 25 32 57 0 54 54 Cosmic_Gene T T A T T TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 259294|100533464 12 11175079 11175079 87 NBL diagnosis snv PPM1H missense A286V NM_020700 30-PARAHE PPM1H MISSENSE SNP Somatic -2 0.103 SQHIGH 12 68 80 0 60 60 Cosmic_Gene G G A G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 57460 12 63182018 63182018 31 NBL diagnosis snv PTPRQ silent Y1606Y NM_001145026 30-PARAHE PTPRQ SYNONYMOUS SNP Somatic PFAM:PF07353:Uroplakin_II -6 0.075 SQHIGH 11 17 28 0 13 13 C C T C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 374462 12 81013266 81013266 22 NBL diagnosis snv MIR4497 EXON E1_exon NM_021625 30-PARAHE TRPV4|MIR4497 UTR5|UTR SNP Somatic 3 0.170 SQHIGH 12 55 67 0 55 55 Cosmic_Gene G G C G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 59341|100616454 12 110271193 110271193 33 NBL diagnosis snv CCDC62 missense K244N NM_201435 30-PARAHE CCDC62 MISSENSE,UTR SNP Somatic 1 0.138 SQHIGH 35 64 99 0 66 66 Cosmic_Gene G G C G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 84660 12 123276628 123276628 91 NBL diagnosis snv DNAH10 missense E3635K NM_207437 30-PARAHE DNAH10 MISSENSE SNP Somatic -1 0.113 SQHIGH 25 144 169 0 100 100 Cosmic_Gene G G A G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 196385 12 124403247 124403247 54 NBL diagnosis snv CCDC175 missense L656M NM_001164399 30-PARAHE CCDC175 MISSENSE SNP Somatic 13 0.517 SQHIGH 7 21 28 0 32 32 Cosmic_Gene G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 729665 14 59992029 59992029 25 NBL diagnosis snv PPL silent R252R NM_002705 30-PARAHE PPL SYNONYMOUS SNP Somatic 9 0.330 SQHIGH 12 32 44 1 68 69 Cosmic_Gene G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 5493 16 4949238 4949238 44 NBL diagnosis snv DNAH3 missense T2948N NM_017539 30-PARAHE DNAH3 MISSENSE SNP Somatic PFAM:PF12777:MT 7 0.270 SQHIGH 47 77 124 1 125 126 Cosmic_Gene G G T G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 55567 16 20976363 20976363 152 NBL diagnosis snv NOD2 missense E843Q NM_022162 30-PARAHE NOD2 MISSENSE SNP Somatic 7 0.270 SQHIGH 38 27 65 0 65 65 Cosmic_Gene G G C G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 64127 16 50750562 50750562 148 NBL diagnosis snv KRT23 missense S58P NM_015515 30-PARAHE KRT23 MISSENSE SNP Somatic 5 0.208 SQHIGH 17 44 61 1 69 70 Cosmic_Gene A A G A A TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 25984 17 39092684 39092684 52 NBL diagnosis snv FEM1A silent C190C NM_018708 30-PARAHE FEM1A SYNONYMOUS SNP Somatic -8 0.063 SQHIGH 5 15 20 2 48 50 C C T C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 55527 19 4792436 4792436 18 NBL diagnosis snv MUC16 missense M10148I NM_024690 30-PARAHE MUC16 MISSENSE SNP Somatic 18 0.904 SQHIGH 24 18 42 0 110 110 Cosmic_Gene C C A C C TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 94025 19 9057002 9057002 162 NBL diagnosis snv CC2D1A missense F638V NM_017721 30-PARAHE CC2D1A MISSENSE SNP Somatic 7 0.270 SQHIGH 20 49 69 1 62 63 T T G T T TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 54862 19 14034596 14034596 52 NBL diagnosis snv NOTCH3 silent C311C NM_000435 30-PARAHE NOTCH3 SYNONYMOUS SNP Somatic PFAM:PF07645:EGF_CA 7 0.270 SQHIGH 19 48 67 0 83 83 Cosmic_Gene G G A G G TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 4854 19 15302338 15302338 74 NBL diagnosis mnv LYPD6B missense S188H NM_177964 30-PARAHE LYPD6B MISSENSE Sub Somatic -10 0.273 SQHIGH 6 26 32 1 38 39 AG AG CA AG AG TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 130576 2 150071162 150071163 15 NBL diagnosis snv CLCA1 missense S229Y NM_001285 30-PARAMT CLCA1 MISSENSE SNP Somatic PFAM:PF08434:CLCA_N -4 0.083 SQHIGH 8 53 61 0 51 51 Cosmic_Gene C C A C C TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 1179 1 86948016 86948016 22 NBL diagnosis snv PIFO splice K86_E3splice NM_181643 30-PARAMT C1orf88 DISRUPT SNP Somatic 11 0.383 SQHIGH 14 31 45 0 41 41 Cosmic_Gene T T A T T TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 128344 1 111890396 111890396 44 NBL diagnosis snv DCST2 splice_region R90_E2splice_region NM_144622 30-PARAMT DCST1|DCST2 TSS-UPSTREAM|ACCEPTOR SNP Somatic 6 0.220 SQHIGH 20 31 51 1 37 38 Cosmic_Gene C C T C C TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 149095|127579 1 155005748 155005748 46 NBL diagnosis snv MRPL55 missense R25C NM_181454 30-PARAMT MRPL55|C1orf35 MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs141113330 Somatic PFAM:PF09776:Mitoc_L55 14 0.567 SQHIGH 20 20 40 0 45 45 Cosmic_Gene G G A G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 128308|79169 1 228295524 228295524 80 NBL diagnosis snv RTN4 missense P1152L NM_020532 30-PARAMT RTN4 MISSENSE SNP Somatic PFAM:PF02453:Reticulon 20 0.994 SQHIGH 16 23 39 0 39 39 Cosmic_Gene G G A G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 57142 2 55200979 55200979 57 NBL diagnosis snv TSL EXON E4_exon NM_152740 30-PARAMT HIBADH INTRON SNP Somatic 13 0.492 SQHIGH 19 28 47 0 71 71 Cosmic_Gene C C A C C TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 11112 7 27666892 27666892 88 NBL diagnosis snv AGPAT5 missense R342G NM_018361 30-PARAMT AGPAT5 MISSENSE SNP Somatic -5 0.077 SQHIGH 6 30 36 1 63 64 A A G A A TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 55326 8 6614838 6614838 21 NBL diagnosis snv KIAA1958 missense H267Q NM_133465 30-PARAMT KIAA1958 MISSENSE SNP Somatic -1 0.106 SQHIGH 8 38 46 0 64 64 Cosmic_Gene C C G C C TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 158405 9 115337161 115337161 32 NBL diagnosis snv PAPPA missense S1241G NM_002581 30-PARAMT PAPPA MISSENSE SNP Somatic PFAM:PF00084:Sushi -10 0.053 SQHIGH 6 24 30 0 35 35 Cosmic_Gene A A G A A TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 5069 9 119106931 119106931 21 NBL diagnosis snv COL5A1 splice G1195R NM_000093 30-PARAMT COL5A1 MISSENSE SNP Somatic 7 0.248 SQHIGH 8 16 24 0 31 31 Cosmic_Gene G G C G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 1289 9 137703338 137703338 32 NBL diagnosis snv UNC5B missense G420S NM_170744 30-PARAMT UNC5B MISSENSE SNP Somatic 20 0.994 SQHIGH 20 19 39 0 42 42 Cosmic_Gene G G A G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 219699 10 73050830 73050830 78 NBL diagnosis snv VWA5A missense A770P NM_014622 30-PARAMT VWA5A MISSENSE SNP Somatic 4 0.172 SQHIGH 15 53 68 0 48 48 Cosmic_Gene G G C G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 4013 11 124016599 124016599 38 NBL diagnosis snv ADAMTS20 missense T792R NM_025003 30-PARAMT ADAMTS20 MISSENSE SNP Somatic PFAM:PF05986:ADAM_spacer1 3 0.155 SQHIGH 8 31 39 0 22 22 Cosmic_Gene G G C G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 80070 12 43833788 43833788 17 NBL diagnosis snv MAP3K12 missense K267N NM_006301 30-PARAMT MAP3K12 MISSENSE SNP Somatic PFAM:PF03109:ABC1 12 0.435 SQHIGH 14 30 44 0 70 70 Cosmic_Gene C C G C C TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 7786 12 53879181 53879181 64 NBL diagnosis snv IFT88 missense D829Y NM_175605 30-PARAMT IFT88 MISSENSE SNP Somatic 11 0.383 SQHIGH 15 29 44 0 41 41 Cosmic_Gene G G T G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 8100 13 21265297 21265297 49 NBL diagnosis snv PTGDR missense P179T NM_000953 30-PARAMT PTGDR MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -2 0.098 SQHIGH 9 22 31 0 33 33 Cosmic_Gene C C A C C TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 5729 14 52735067 52735067 31 NBL diagnosis snv DUOX1 missense Y472D NM_017434 30-PARAMT DUOX1 MISSENSE SNP Somatic -6 0.072 SQHIGH 5 45 50 0 40 40 Cosmic_Gene T T G T T TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 53905 15 45433117 45433117 13 NBL diagnosis snv UNC13C silent V1316V NM_001080534 30-PARAMT UNC13C SYNONYMOUS SNP Somatic 3 0.155 SQHIGH 6 24 30 0 49 49 Cosmic_Gene G G T G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 440279 15 54586222 54586222 27 NBL diagnosis snv COMMD4 missense S105C NM_017828 30-PARAMT COMMD4 MISSENSE SNP Somatic 7 0.248 SQHIGH 24 41 65 0 51 51 A A T A A TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 54939 15 75631616 75631616 70 NBL diagnosis snv FBXO15 missense H310N NM_152676 30-PARAMT FBXO15 MISSENSE SNP Somatic 5 0.189 SQHIGH 9 27 36 0 15 15 Cosmic_Gene G G T G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 201456 18 71749269 71749269 15 NBL diagnosis snv ABCA7 silent G1384G NM_019112 30-PARAMT ABCA7 SYNONYMOUS SNP Somatic 4 0.172 SQHIGH 17 35 52 0 54 54 Cosmic_Gene C C T C C TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 10347 19 1055297 1055297 59 NBL diagnosis snv LRRC8E silent A313A NM_025061 30-PARAMT MAP2K7|LRRC8E TSS-UPSTREAM|SYNONYMOUS SNP Somatic 9 0.306 SQHIGH 31 40 71 1 51 52 Cosmic_Gene C C T C C TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 5609|80131 19 7964346 7964346 77 NBL diagnosis snv SCAF1 silent P385P NM_021228 30-PARAMT SCAF1 SYNONYMOUS SNP Somatic -10 0.053 SQHIGH 5 12 17 0 19 19 G G C G G TARGET-30-PARAMT-01A-01D TARGET-30-PARAMT-10A-01D 58506 19 50154801 50154801 18 NBL diagnosis snv FBXO17 silent V38V NM_148169 30-PARBAJ FBXO17 SYNONYMOUS SNP Somatic PFAM:PF00646:F-box -2 0.096 SQHIGH 5 20 25 0 18 18 C C G C C TARGET-30-PARBAJ-01A-01D TARGET-30-PARBAJ-10A-01D 115290 19 39440873 39440873 13 NBL relapse snv MRPL24 nonsense E66* NM_145729 30-PARBAJ MRPL24 NONSENSE SNP Somatic PFAM:PF00467:KOW 11 0.349 SQHIGH 10 30 40 0 58 58 C C A C C TARGET-30-PARBAJ-02A-01D TARGET-30-PARBAJ-10A-01D 79590 1 156708218 156708218 42 NBL relapse snv SFTPB silent R224R NM_000542 30-PARBAJ SFTPB SYNONYMOUS SNP Somatic 14 0.523 SQHIGH 14 16 30 0 27 27 Cosmic_Gene C C T C C TARGET-30-PARBAJ-02A-01D TARGET-30-PARBAJ-10A-01D 6439 2 85892448 85892448 47 NBL relapse snv COBLL1 missense N94S NM_014900 30-PARBAJ COBLL1 MISSENSE SNP Somatic PFAM:PF09469:Cobl -6 0.065 SQHIGH 5 31 36 0 39 39 Cosmic_Gene T T C T T TARGET-30-PARBAJ-02A-01D TARGET-30-PARBAJ-10A-01D 22837 2 165586575 165586575 17 NBL relapse snv HERC6 missense Q910L NM_017912 30-PARBAJ HERC6 MISSENSE SNP Somatic -5 0.070 SQHIGH 8 20 28 0 29 29 Cosmic_Gene A A T A A TARGET-30-PARBAJ-02A-01D TARGET-30-PARBAJ-10A-01D 55008 4 89361199 89361199 27 NBL relapse snv ZGRF1 silent E806E NM_018392 30-PARBAJ ZGRF1 SYNONYMOUS SNP Somatic 14 0.523 SQHIGH 8 13 21 0 25 25 T T C T T TARGET-30-PARBAJ-02A-01D TARGET-30-PARBAJ-10A-01D 55345 4 113538780 113538780 31 NBL relapse snv HRAS missense Q61K NM_005343 30-PARBAJ LRRC56|HRAS TSS-UPSTREAM|MISSENSE SNP dbsnp.125:rs28933406 Somatic 12 0.396 SQHIGH 17 21 38 0 34 34 COSMIC:mut:496 Cosmic_Gene G G T G G TARGET-30-PARBAJ-02A-01D TARGET-30-PARBAJ-10A-01D 115399|3265 11 533875 533875 57 NBL relapse snv KIF7 silent A202A NM_198525 30-PARBAJ KIF7 SYNONYMOUS SNP Somatic 8 0.250 SQHIGH 13 16 29 1 34 35 Cosmic_Gene C C T C C TARGET-30-PARBAJ-02A-01D TARGET-30-PARBAJ-10A-01D 374654 15 90192522 90192522 43 NBL relapse snv ZNF791 missense A504V NM_153358 30-PARBAJ ZNF791 MISSENSE SNP Somatic 10 0.314 SQHIGH 13 13 26 0 46 46 Cosmic_Gene C C T C C TARGET-30-PARBAJ-02A-01D TARGET-30-PARBAJ-10A-01D 163049 19 12739854 12739854 68 NBL relapse snv ISM1-AS1 EXON E1_exon NM_080826 30-PARBAJ ISM1|LOC100505536 INTRON|UTR SNP Somatic -10 0.046 SQHIGH 5 20 25 0 23 23 G G A G G TARGET-30-PARBAJ-02A-01D TARGET-30-PARBAJ-10A-01D 140862|100505536 20 13218606 13218606 15 NBL diagnosis snv KLHDC7A missense S298P NM_152375 30-PARBGP KLHDC7A MISSENSE SNP Somatic -10 0.052 SQHIGH 10 53 63 2 61 63 Cosmic_Gene T T C T T TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 127707 1 18808367 18808367 18 NBL diagnosis snv COL11A1 missense M792I NM_001854 30-PARBGP COL11A1 MISSENSE SNP Somatic PFAM:PF01391:Collagen -5 0.075 SQHIGH 7 6 13 0 12 12 Cosmic_Gene C C A C C TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 1301 1 103455092 103455092 24 NBL diagnosis snv OR2T1 missense S280L NM_030904 30-PARBGP OR2T1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 9 0.319 SQHIGH 23 29 52 1 56 57 Cosmic_Gene C C T C C TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 26696 1 248570134 248570134 76 NBL diagnosis snv RAF1 missense L397V NM_002880 30-PARBGP RAF1 MISSENSE SNP Somatic PFAM:PF00069:Pkinase PFAM:PF03109:ABC1 10 0.356 SQHIGH 17 3 20 0 49 49 Cosmic_Gene G C C G G TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 5894 3 12633211 12633211 127 NBL diagnosis snv LOC100507291 EXON E2_exon NM_178177 30-PARBGP NMNAT3 INTRON SNP Somatic 9 0.319 SQHIGH 23 18 41 0 43 43 G G T G G TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 349565 3 139302151 139302151 91 NBL diagnosis snv KIAA1109 silent L1353L NM_015312 30-PARBGP KIAA1109 SYNONYMOUS SNP Somatic -6 0.069 SQHIGH 7 24 31 0 42 42 Cosmic_Gene A A G A A TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 84162 4 123160896 123160896 28 NBL diagnosis snv HCN1 missense F483V NM_021072 30-PARBGP HCN1 MISSENSE SNP Somatic 14 0.598 SQHIGH 14 18 32 0 25 25 Cosmic_Gene A A C A A TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 348980 5 45303872 45303872 42 NBL diagnosis snv MAPK9 splice_region D151_E6splice_region NM_139068 30-PARBGP MAPK9 ACCEPTOR SNP Somatic 11 0.405 SQHIGH 34 40 74 0 60 60 Cosmic_Gene A A G A A TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 5601 5 179676148 179676148 107 NBL diagnosis snv COL12A1 missense T978N NM_004370 30-PARBGP COL12A1 INTRON,MISSENSE SNP Somatic 7 0.254 SQHIGH 11 8 19 0 31 31 Cosmic_Gene G G T G G TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 1303 6 75875273 75875273 57 NBL diagnosis snv GLIS3 missense I331T NM_001042413 30-PARBGP GLIS3 MISSENSE SNP Somatic -3 0.089 SQHIGH 9 31 40 0 50 50 Cosmic_Gene A A G A A TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 169792 9 4118486 4118486 34 NBL diagnosis snv STAMBPL1 silent N123N NM_020799 30-PARBGP STAMBPL1 SYNONYMOUS SNP Somatic -1 0.107 SQHIGH 9 11 20 0 18 18 Cosmic_Gene C C T C C TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 57559 10 90670717 90670717 30 NBL diagnosis snv ALDH18A1 missense M577K NM_002860 30-PARBGP ALDH18A1 MISSENSE SNP Somatic -1 0.107 SQHIGH 20 21 41 0 43 43 Cosmic_Gene A A T A A TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 5832 10 97373794 97373794 76 NBL diagnosis snv TRIM5 splice_region T172_E4splice_region NM_033034 30-PARBGP TRIM5 ACCEPTOR SNP Somatic 7 0.254 SQHIGH 21 37 58 0 64 64 Cosmic_Gene G G T G G TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 85363 11 5699670 5699670 78 NBL diagnosis snv PHF21A missense V234A NM_001101802 30-PARBGP PHF21A MISSENSE SNP Somatic 14 0.598 SQHIGH 33 34 67 1 61 62 Cosmic_Gene A A G A A TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 51317 11 45987158 45987158 103 NBL diagnosis snv AMBRA1 missense R303H NM_017749 30-PARBGP AMBRA1 MISSENSE SNP Somatic 16 0.770 SQHIGH 24 17 41 0 49 49 Cosmic_Gene C C T C C TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 55626 11 46564389 46564389 105 NBL diagnosis snv RTN4RL2 silent P386P NM_178570 30-PARBGP RTN4RL2 SYNONYMOUS SNP Somatic -5 0.075 SQHIGH 8 15 23 0 38 38 C C G C C TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 349667 11 57244279 57244279 38 NBL diagnosis snv LOC101929173 EXON E7_exon NM_024817 30-PARBGP THSD4 INTRON SNP Somatic 8 0.284 SQHIGH 20 33 53 0 60 60 Cosmic_Gene C C G C C TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 79875 15 71982266 71982266 76 NBL diagnosis snv CCNF missense S758R NM_001761 30-PARBGP CCNF|C16orf59 MISSENSE|TSS-UPSTREAM SNP Somatic 8 0.284 SQHIGH 29 34 63 0 76 76 Cosmic_Gene C C G C C TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 899|80178 16 2506934 2506934 120 NBL diagnosis snv OR3A1 silent G44G NM_002550 30-PARBGP OR3A1 SYNONYMOUS SNP Somatic 11 0.405 SQHIGH 30 28 58 2 48 50 Cosmic_Gene G G T G G TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 4994 17 3195745 3195745 79 NBL diagnosis snv TJP3 missense Q317K NM_001267560 30-PARBGP TJP3 MISSENSE SNP Somatic 6 0.229 SQHIGH 24 33 57 1 44 45 Cosmic_Gene C C A C C TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 27134 19 3734396 3734396 61 NBL diagnosis snv RHBG splice_region V437_E11splice_region NM_020407 30-PARBLH RHBG ACCEPTOR SNP Somatic -8 0.051 SQHIGH 6 32 38 0 31 31 Cosmic_Gene C C T C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 57127 1 156354565 156354565 16 NBL diagnosis snv CEBPZOS EXON E16_exon NM_005760 30-PARBLH CEBPZ|LOC100505876 UTR3|UTR SNP Somatic -1 0.093 SQHIGH 6 16 22 0 27 27 Cosmic_Gene G G T G G TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 10153|100505876 2 37428867 37428867 23 NBL diagnosis snv IFIH1 missense D615N NM_022168 30-PARBLH IFIH1 MISSENSE SNP Somatic 12 0.376 SQHIGH 14 30 44 0 44 44 Cosmic_Gene C C T C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 64135 2 163134126 163134126 47 NBL diagnosis snv UNC80 missense M1557I NM_032504 30-PARBLH UNC80 MISSENSE SNP Somatic -2 0.084 SQHIGH 6 23 29 0 28 28 G G C G G TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 285175 2 210777370 210777370 19 NBL diagnosis snv WNT7A missense C8Y NM_004625 30-PARBLH WNT7A MISSENSE SNP Somatic 10 0.293 SQHIGH 9 16 25 0 31 31 Cosmic_Gene C C T C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 7476 3 13921291 13921291 36 NBL diagnosis snv EXOSC7 missense G281E NM_015004 30-PARBLH EXOSC7 MISSENSE,UTR SNP Somatic 3 0.137 SQHIGH 12 16 28 0 28 28 G G A G G TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 23016 3 45052797 45052797 43 NBL diagnosis snv FREM3 missense P748Q NM_001168235 30-PARBLH FREM3 MISSENSE SNP Somatic 6 0.192 SQHIGH 17 37 54 0 42 42 G G T G G TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 166752 4 144619586 144619586 48 NBL diagnosis snv KMT2E missense F1133I NM_182931 30-PARBLH KMT2E MISSENSE SNP Somatic 8 0.236 SQHIGH 11 37 48 0 52 52 Cosmic_Gene T T A T T TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 55904 7 104748301 104748301 38 NBL diagnosis snv PDLIM2 silent G54G NM_176871 30-PARBLH PDLIM2 SYNONYMOUS SNP Somatic 4 0.151 SQHIGH 12 31 43 0 35 35 G G T G G TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 64236 8 22438960 22438960 35 NBL diagnosis snv ALDH18A1 missense V325I NM_002860 30-PARBLH ALDH18A1 MISSENSE SNP Somatic 16 0.679 SQHIGH 12 26 38 0 37 37 Cosmic_Gene C C T C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 5832 10 97387304 97387304 40 NBL diagnosis snv OR52K1 missense A53D NM_001005171 30-PARBLH OR52K1 MISSENSE SNP Somatic 3 0.137 SQHIGH 13 56 69 0 55 55 C C A C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 390036 11 4510288 4510288 36 NBL diagnosis snv HECTD4 missense V2483M NM_001109662 30-PARBLH HECTD4 MISSENSE SNP Somatic -2 0.084 SQHIGH 4 25 29 0 39 39 Cosmic_Gene C C T C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 283450 12 112647837 112647837 15 NBL diagnosis snv FLT3 silent A506A NM_004119 30-PARBLH FLT3 SYNONYMOUS SNP Somatic 7 0.213 SQHIGH 18 33 51 0 55 55 Cosmic_Gene G G A G G TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 2322 13 28609711 28609711 65 NBL diagnosis snv LECT1 missense A110E NM_007015 30-PARBLH LECT1 MISSENSE SNP Somatic PFAM:PF04089:BRICHOS 5 0.167 SQHIGH 13 41 54 1 49 50 Cosmic_Gene G G T G G TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 11061 13 53307379 53307379 31 NBL diagnosis snv MMP14 splice_region K434_E8splice_region NM_004995 30-PARBLH MMP14 INTRON SNP Somatic 2 0.124 SQHIGH 12 46 58 0 71 71 C C A C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 4323 14 23313997 23313997 45 NBL diagnosis snv MTMR10 missense K117E NM_017762 30-PARBLH MTMR10 MISSENSE SNP Somatic 14 0.506 SQHIGH 15 22 37 0 33 33 Cosmic_Gene T T C T T TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 54893 15 31266642 31266642 49 NBL diagnosis snv BNIP2 silent V125V NM_004330 30-PARBLH BNIP2 SYNONYMOUS SNP Somatic 7 0.213 SQHIGH 8 29 37 0 27 27 Cosmic_Gene C C A C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 663 15 59974645 59974645 21 NBL diagnosis snv PMFBP1 missense R260L NM_031293 30-PARBLH PMFBP1 MISSENSE SNP Somatic 9 0.263 SQHIGH 8 31 39 0 53 53 Cosmic_Gene C C A C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 83449 16 72174339 72174339 32 NBL diagnosis snv TACO1 missense H181P NM_016360 30-PARBLH TACO1 MISSENSE SNP Somatic PFAM:PF01709:DUF28 3 0.137 SQHIGH 17 79 96 1 43 44 A A C A A TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 51204 17 61684673 61684673 21 NBL diagnosis snv MLLT1 silent N111N NM_005934 30-PARBLH MLLT1 SYNONYMOUS SNP Somatic PFAM:PF03366:YEATS 13 0.431 SQHIGH 13 25 38 0 41 41 Cosmic_Gene G G A G G TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 4298 19 6230668 6230668 47 NBL diagnosis snv NLRP8 missense W73L NM_176811 30-PARBLH NLRP8 MISSENSE SNP Somatic -9 0.047 SQHIGH 5 27 32 0 44 44 Cosmic_Gene G G T G G TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 126205 19 56459486 56459486 20 NBL diagnosis snv TEF splice_region D23_E1splice_region NM_001145398 30-PARBLH TEF INTRON SNP Somatic 12 0.376 SQHIGH 15 29 44 0 58 58 Cosmic_Gene C C G C C TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 7008 22 41763613 41763613 62 NBL diagnosis mnv BAP1 missense I32R NM_004656 30-PARBLH PHF7|BAP1 TSS-UPSTREAM|MISSENSE Sub Somatic -7 0.306 SQHIGH 6 39 45 1 66 67 Cosmic_Gene GA GA CC GA GA TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 51533|8314 3 52443596 52443597 18 NBL diagnosis mnv STAU2 missense K229_E230>NI NM_001164380 30-PARBLH STAU2 MISSENSE Sub Somatic -31 0.031 3 14 17 0 30 30 TCT TCT ATA TCT TCT TARGET-30-PARBLH-01A-01D TARGET-30-PARBLH-10A-01D 27067 8 74526181 74526183 14 NBL diagnosis snv SPTA1 missense A1863T NM_003126 30-PARCWT SPTA1 MISSENSE SNP Somatic 3 0.169 SQHIGH 9 36 45 1 56 57 Cosmic_Gene C C T C C TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 6708 1 158597492 158597492 26 NBL diagnosis snv ALK missense R1275L NM_004304 30-PARCWT ALK MISSENSE SNP Somatic 14 0.602 SQHIGH 12 20 32 0 50 50 Cosmic_Gene C C A C C TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 238 2 29432664 29432664 56 NBL diagnosis snv BARD1 missense S330R NM_000465 30-PARCWT BARD1 MISSENSE SNP Somatic 5 0.206 SQHIGH 15 39 54 0 69 69 Cosmic_Gene T T G T T TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 580 2 215645610 215645610 59 NBL diagnosis snv GPD1L missense T37A NM_015141 30-PARCWT GPD1L MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD 8 0.296 SQHIGH 9 28 37 0 54 54 A A G A A TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 23171 3 32169629 32169629 38 NBL diagnosis snv CEP70 nonsense E120* NM_024491 30-PARCWT CEP70 NONSENSE SNP Somatic -1 0.115 SQHIGH 9 32 41 0 56 56 Cosmic_Gene C C A C C TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 80321 3 138289267 138289267 36 NBL diagnosis snv TBX18 splice_region G367_E8splice_region NM_001080508 30-PARCWT TBX18 ACCEPTOR SNP Somatic 6 0.239 SQHIGH 22 59 81 0 94 94 Cosmic_Gene G G C G G TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 9096 6 85447136 85447136 81 NBL diagnosis snv TRHR nonsense W150* NM_003301 30-PARCWT TRHR NONSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx -9 0.059 SQHIGH 6 57 63 0 74 74 Cosmic_Gene G G A G G TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 7201 8 110100190 110100190 21 NBL diagnosis snv SEC16A missense A1724D NM_014866 30-PARCWT SEC16A MISSENSE SNP Somatic 3 0.169 SQHIGH 25 48 73 0 72 72 G G T G G TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 9919 9 139354229 139354229 85 NBL diagnosis snv PAX6 missense Q174K NM_000280 30-PARCWT PAX6 MISSENSE SNP Somatic 3 0.169 SQHIGH 15 60 75 0 75 75 Cosmic_Gene G G T G G TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 5080 11 31822242 31822242 49 NBL diagnosis snv MADD missense V1129M NM_003682 30-PARCWT MADD INTRON,MISSENSE SNP Somatic 2 0.154 SQHIGH 29 101 130 0 104 104 Cosmic_Gene G G A G G TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 8567 11 47314117 47314117 81 NBL diagnosis snv FEM1A missense L102P NM_018708 30-PARCWT FEM1A MISSENSE SNP Somatic PFAM:PF12796:Ank_2 3 0.169 SQHIGH 11 8 19 0 9 9 T T C T T TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 55527 19 4792171 4792171 25 NBL diagnosis snv NCR1 missense N52S NM_004829 30-PARCWT NCR1 INTRON,MISSENSE SNP Somatic 3 0.169 SQHIGH 20 76 96 0 78 78 Cosmic_Gene A A G A A TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 9437 19 55417965 55417965 56 NBL diagnosis snv HDAC1 silent P56P NM_004964 30-PARDCK HDAC1 SYNONYMOUS SNP dbsnp.134:rs141080688 Somatic PFAM:PF00850:Hist_deacetyl -4 0.093 SQHIGH 9 30 39 1 45 46 Cosmic_Gene T T C T T TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 3065 1 32782271 32782271 25 NBL diagnosis snv USP24 missense A1637T NM_015306 30-PARDCK USP24 MISSENSE SNP Somatic -4 0.093 SQHIGH 6 25 31 0 25 25 Cosmic_Gene C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 23358 1 55569665 55569665 16 NBL diagnosis snv UCHL5 nonsense E215* NM_015984 30-PARDCK UCHL5 NONSENSE,UTR SNP Somatic 12 0.486 SQHIGH 11 11 22 0 22 22 Cosmic_Gene C C A C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 51377 1 192993063 192993063 40 NBL diagnosis snv CCDC142 missense L599P NM_032779 30-PARDCK CCDC142|MRPL53 MISSENSE|TSS-UPSTREAM SNP Somatic -8 0.067 SQHIGH 9 33 42 1 29 30 Cosmic_Gene A A G A A TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 84865|116540 2 74702222 74702222 16 NBL diagnosis snv PIKFYVE missense K1462N NM_015040 30-PARDCK PIKFYVE MISSENSE SNP Somatic -2 0.111 SQHIGH 7 13 20 0 17 17 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 200576 2 209200790 209200790 21 NBL diagnosis snv SLC4A3 missense D688V NM_005070 30-PARDCK SLC4A3 MISSENSE SNP Somatic PFAM:PF00955:HCO3_cotransp 10 0.386 SQHIGH 12 23 35 0 44 44 Cosmic_Gene A A T A A TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 6508 2 220500485 220500485 48 NBL diagnosis snv TATDN2 silent P218P NM_014760 30-PARDCK TATDN2 SYNONYMOUS SNP Somatic 4 0.200 SQHIGH 5 8 13 0 24 24 Cosmic_Gene C C A C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 9797 3 10302060 10302060 25 NBL diagnosis snv EOMES missense H394Y NM_005442 30-PARDCK EOMES MISSENSE SNP Somatic 1 0.148 SQHIGH 6 22 28 0 57 57 Cosmic_Gene G G A G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 8320 3 27760363 27760363 31 NBL diagnosis snv IQCF1 missense I203K NM_152397 30-PARDCK IQCF1 MISSENSE SNP Somatic 9 0.347 SQHIGH 17 26 43 0 81 81 Cosmic_Gene A A T A A TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 132141 3 51928916 51928916 89 NBL diagnosis snv STAG1 missense L961R NM_005862 30-PARDCK STAG1 MISSENSE SNP Somatic 10 0.386 SQHIGH 7 17 24 0 21 21 Cosmic_Gene A A C A A TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 10274 3 136078044 136078044 21 NBL diagnosis snv ATP13A4-AS1 EXON E1_exon NM_032279 30-PARDCK ATP13A4 INTRON SNP Somatic 15 0.695 SQHIGH 13 24 37 0 39 39 Cosmic_Gene G G A G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 84239 3 193272193 193272193 46 NBL diagnosis snv NEIL3 missense C554F NM_018248 30-PARDCK NEIL3 MISSENSE SNP Somatic PFAM:PF06839:zf-GRF 12 0.486 SQHIGH 21 19 40 0 49 49 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 55247 4 178283468 178283468 90 NBL diagnosis snv CLINT1 missense A194G NM_014666 30-PARDCK CLINT1 MISSENSE SNP Somatic 14 0.618 SQHIGH 31 24 55 0 37 37 Cosmic_Gene G G C G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 9685 5 157236750 157236750 91 NBL diagnosis snv PRSS16 missense L20F NM_005865 30-PARDCK PRSS16 MISSENSE SNP Somatic 8 0.313 SQHIGH 36 33 69 0 70 70 Cosmic_Gene C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 10279 6 27215574 27215574 137 NBL diagnosis snv CDC40 missense A33P NM_015891 30-PARDCK CDC40|WASF1 MISSENSE|TSS-UPSTREAM SNP Somatic -5 0.085 SQHIGH 4 22 26 0 36 36 G G C G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 51362|8936 6 110501744 110501744 16 NBL diagnosis snv VNN1 missense A67E NM_004666 30-PARDCK VNN1 MISSENSE SNP Somatic -6 0.079 SQHIGH 10 11 21 0 16 16 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 8876 6 133034975 133034975 30 NBL diagnosis snv SASH1 missense L275V NM_015278 30-PARDCK SASH1 MISSENSE SNP Somatic 5 0.220 SQHIGH 11 12 23 0 27 27 Cosmic_Gene C C G C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 23328 6 148835553 148835553 44 NBL diagnosis snv PLG splice_region A561_E13splice_region NM_000301 30-PARDCK PLG INTRON SNP Somatic 11 0.431 SQHIGH 15 30 45 0 49 49 Cosmic_Gene C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 5340 6 161155129 161155129 54 NBL diagnosis snv ADAM28 silent L11L NM_014265 30-PARDCK ADAM28 SYNONYMOUS SNP Somatic 11 0.431 SQHIGH 22 24 46 0 43 43 Cosmic_Gene C C A C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 10863 8 24151695 24151695 77 NBL diagnosis snv ZFHX4 silent A2563A NM_024721 30-PARDCK ZFHX4 SYNONYMOUS SNP Somatic -5 0.085 SQHIGH 8 52 60 0 39 39 Cosmic_Gene C C A C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 79776 8 77766846 77766846 18 NBL diagnosis snv TOP1MT missense N266Y NM_052963 30-PARDCK TOP1MT MISSENSE SNP Somatic 0 0.135 SQHIGH 10 40 50 0 46 46 Cosmic_Gene T T A T T TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 116447 8 144406675 144406675 30 NBL diagnosis snv FREM1 silent P2170P NM_144966 30-PARDCK FREM1 SYNONYMOUS SNP Somatic 0 0.135 SQHIGH 6 22 28 0 35 35 Cosmic_Gene A A G A A TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 158326 9 14737424 14737424 23 NBL diagnosis snv OR1J2 silent S72S NM_054107 30-PARDCK OR1J2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 12 0.486 SQHIGH 33 40 73 0 46 46 Cosmic_Gene C C A C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 26740 9 125273296 125273296 86 NBL diagnosis snv UBQLNL missense N25I NM_145053 30-PARDCK UBQLNL MISSENSE SNP Somatic -1 0.122 SQHIGH 14 30 44 1 43 44 Cosmic_Gene T T A T T TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 143630 11 5537598 5537598 38 NBL diagnosis snv PSMC3 missense E402K NM_002804 30-PARDCK PSMC3 MISSENSE SNP Somatic 0 0.135 SQHIGH 14 42 56 1 40 41 Cosmic_Gene C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 5702 11 47440672 47440672 28 NBL diagnosis snv OR4X1 silent V13V NM_001004726 30-PARDCK OR4X1 SYNONYMOUS SNP Somatic 11 0.431 SQHIGH 23 24 47 1 49 50 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 390113 11 48285451 48285451 76 NBL diagnosis snv OR8I2 missense V108L NM_001003750 30-PARDCK OR8I2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -9 0.062 SQHIGH 6 49 55 0 53 53 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 120586 11 55861105 55861105 18 NBL diagnosis snv STX5 missense A184D NM_003164 30-PARDCK STX5 MISSENSE SNP Somatic PFAM:PF00804:Syntaxin -6 0.079 SQHIGH 10 50 60 0 55 55 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 6811 11 62592801 62592801 30 NBL diagnosis snv SLC22A24 missense P106L NM_001136506 30-PARDCK SLC22A24 MISSENSE SNP Somatic 3 0.181 SQHIGH 14 45 59 0 40 40 G G A G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 283238 11 62910935 62910935 35 NBL diagnosis snv IGHMBP2 silent S287S NM_002180 30-PARDCK IGHMBP2 SYNONYMOUS SNP Somatic 1 0.148 SQHIGH 15 52 67 0 30 30 C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 3508 11 68682440 68682440 27 NBL diagnosis snv IZUMO1R silent L82L NM_001199206 30-PARDCK IZUMO1R SYNONYMOUS SNP Somatic PFAM:PF03024:Folate_rec -2 0.111 SQHIGH 3 8 11 0 27 27 Cosmic_Gene C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 390243 11 94039784 94039784 17 NBL diagnosis snv MAGOHB silent F7F NM_018048 30-PARDCK MAGOHB SYNONYMOUS SNP Somatic PFAM:PF02792:Mago_nashi 6 0.254 SQHIGH 8 25 33 0 45 45 Cosmic_Gene G G A G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 55110 12 10766111 10766111 32 NBL diagnosis snv PTPRQ missense V1927L NM_001145026 30-PARDCK PTPRQ MISSENSE SNP Somatic 11 0.431 SQHIGH 12 17 29 0 19 19 G G C G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 374462 12 81062888 81062888 31 NBL diagnosis snv ASB2 missense R557Q NM_016150 30-PARDCK ASB2 MISSENSE SNP Somatic 10 0.386 SQHIGH 12 29 41 0 60 60 Cosmic_Gene C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 51676 14 94401096 94401096 52 NBL diagnosis snv CYP46A1 missense D346V NM_006668 30-PARDCK CYP46A1 MISSENSE SNP Somatic PFAM:PF00067:p450 19 0.961 SQHIGH 13 8 21 0 35 35 A A T A A TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 10858 14 100187632 100187632 70 NBL diagnosis snv TNFAIP8L3 silent R197R NM_207381 30-PARDCK TNFAIP8L3 SYNONYMOUS SNP Somatic PFAM:PF05527:DUF758 6 0.254 SQHIGH 18 59 77 0 49 49 G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 388121 15 51350368 51350368 42 NBL diagnosis snv TNRC6A silent P443P NM_014494 30-PARDCK TNRC6A SYNONYMOUS SNP Somatic -7 0.073 SQHIGH 8 39 47 1 49 50 Cosmic_Gene T T C T T TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 27327 16 24801292 24801292 19 NBL diagnosis snv ITGAD missense R894G NM_005353 30-PARDCK ITGAD MISSENSE SNP Somatic PFAM:PF08441:Integrin_alpha2 -9 0.062 SQHIGH 7 29 36 1 38 39 Cosmic_Gene A A G A A TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 3681 16 31429685 31429685 17 NBL diagnosis snv GPR56 silent D114D NM_005682 30-PARDCK GPR56 SYNONYMOUS SNP Somatic -5 0.085 SQHIGH 8 55 63 0 57 57 C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 9289 16 57685389 57685389 23 NBL diagnosis snv ST3GAL2 missense R151C NM_006927 30-PARDCK ST3GAL2 MISSENSE SNP Somatic PFAM:PF00777:Glyco_transf_29 -4 0.093 SQHIGH 9 24 33 0 47 47 Cosmic_Gene G G A G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 6483 16 70428967 70428967 38 NBL diagnosis snv POLR2A missense R985W NM_000937 30-PARDCK POLR2A MISSENSE SNP Somatic PFAM:PF04992:RNA_pol_Rpb1_6 7 0.283 SQHIGH 12 5 17 2 41 43 Cosmic_Gene C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 5430 17 7406728 7406728 65 NBL diagnosis snv HOXB5 missense E132A NM_002147 30-PARDCK HOXB5|LOC404266 MISSENSE|INTRON,TSS-UPSTREAM SNP Somatic 3 0.181 SQHIGH 22 69 91 0 35 35 T T G T T TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 3215|404266 17 46670650 46670650 35 NBL diagnosis snv PRX missense A1069S NM_181882 30-PARDCK HIPK4|PRX TSS-UPSTREAM|UTR3,MISSENSE SNP Somatic -1 0.122 SQHIGH 20 24 44 1 36 37 Cosmic_Gene C C A C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 147746|57716 19 40901054 40901054 53 NBL diagnosis snv ZNF233 nonsense Y297* NM_181756 30-PARDCK ZNF233 NONSENSE SNP Somatic 7 0.283 SQHIGH 30 46 76 0 59 59 Cosmic_Gene C C G C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 353355 19 44777704 44777704 89 NBL diagnosis snv C5AR2 missense A91E NM_018485 30-PARDCK C5AR2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 11 0.431 SQHIGH 17 25 42 0 39 39 Cosmic_Gene C C A C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 27202 19 47844328 47844328 57 NBL diagnosis snv PRKCG missense W539C NM_002739 30-PARDCK PRKCG MISSENSE SNP Somatic 18 0.905 SQHIGH 14 9 23 0 24 24 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 5582 19 54406368 54406368 56 NBL diagnosis snv NLRP11 missense Q850K NM_145007 30-PARDCK NLRP11 MISSENSE SNP Somatic 4 0.200 SQHIGH 14 52 66 1 62 63 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 204801 19 56300731 56300731 35 NBL diagnosis snv NLRP11 missense F37L NM_145007 30-PARDCK NLRP11 MISSENSE SNP dbsnp.131:rs74865045 Somatic 5 0.220 SQHIGH 14 33 47 0 58 58 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 204801 19 56329430 56329430 54 NBL diagnosis snv ZNF543 missense L146M NM_213598 30-PARDCK ZNF543 MISSENSE SNP Somatic -1 0.122 SQHIGH 8 15 23 0 20 20 Cosmic_Gene C C A C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 125919 19 57839266 57839266 25 NBL diagnosis snv ZNF543 missense V312M NM_213598 30-PARDCK ZNF543 MISSENSE SNP Somatic 6 0.254 SQHIGH 31 40 71 0 67 67 Cosmic_Gene G G A G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 125919 19 57839764 57839764 107 NBL diagnosis snv NPEPL1 silent T194T NM_024663 30-PARDCK STX16-NPEPL1|NPEPL1 UTR|SYNONYMOUS SNP Somatic 5 0.220 SQHIGH 22 55 77 1 66 67 C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 100534593|79716 20 57273814 57273814 56 NBL diagnosis snv PI4KA missense L1546F NM_058004 30-PARDCK PI4KA MISSENSE SNP Somatic 16 0.764 SQHIGH 26 21 47 0 57 57 Cosmic_Gene G G A G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 5297 22 21083647 21083647 113 NBL diagnosis snv TMPRSS6 silent G753G NM_153609 30-PARDCK TMPRSS6 SYNONYMOUS SNP Somatic 11 0.431 SQHIGH 26 33 59 0 67 67 Cosmic_Gene G G A G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 164656 22 37462884 37462884 102 NBL diagnosis snv CACNA1I splice_region V1595_E29splice_region NM_021096 30-PARDCK CACNA1I ACCEPTOR SNP Somatic 17 0.863 SQHIGH 15 15 30 0 31 31 Cosmic_Gene C C T C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 8911 22 40069959 40069959 57 NBL diagnosis snv FGD1 missense R90S NM_004463 30-PARDCK FGD1 MISSENSE SNP Somatic 12 0.486 SQHIGH 10 10 20 0 25 25 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 2245 X 54521598 54521598 42 NBL diagnosis snv ATRX nonsense E990* NM_000489 30-PARDCK ATRX NONSENSE SNP Somatic 11 0.431 SQHIGH 18 27 45 1 43 44 Cosmic_Gene C C A C C TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 546 X 76937780 76937780 52 NBL diagnosis snv MAGEC1 missense R1057L NM_005462 30-PARDCK MAGEC1 MISSENSE SNP Somatic PFAM:PF01454:MAGE -1 0.122 SQHIGH 11 62 73 0 48 48 Cosmic_Gene G G T G G TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 9947 X 140996360 140996360 26 NBL diagnosis snv MAGEA3 missense I164S NM_005362 30-PARDCK MAGEA3 MISSENSE SNP Somatic PFAM:PF01454:MAGE 6 0.254 SQHIGH 26 35 61 0 42 42 A A C A A TARGET-30-PARDCK-01A-01D TARGET-30-PARDCK-10A-01D 4102 X 151935676 151935676 71 NBL diagnosis snv MYT1L missense G273S NM_015025 30-PARDIW MYT1L MISSENSE SNP Somatic 7 0.314 SQHIGH 20 39 59 0 54 54 Cosmic_Gene C C T C C TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 23040 2 1926724 1926724 65 NBL diagnosis snv HDLBP missense R470C NM_005336 30-PARDIW HDLBP MISSENSE SNP Somatic 7 0.314 SQHIGH 18 45 63 1 59 60 Cosmic_Gene G G A G G TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 3069 2 242189360 242189360 48 NBL diagnosis snv USP19 missense P226S NM_001199160 30-PARDIW USP19 INTRON,MISSENSE SNP Somatic 2 0.176 SQHIGH 10 33 43 0 59 59 Cosmic_Gene G G A G G TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 10869 3 49154725 49154725 40 NBL diagnosis snv PLSCR1 missense D244E NM_021105 30-PARDIW PLSCR1 MISSENSE SNP Somatic PFAM:PF03803:Scramblase 5 0.236 SQHIGH 13 18 31 0 40 40 Cosmic_Gene A A C A A TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 5359 3 146239337 146239337 54 NBL diagnosis snv ACTL6A missense P78L NM_004301 30-PARDIW ACTL6A MISSENSE SNP Somatic -4 0.106 SQHIGH 4 17 21 0 31 31 Cosmic_Gene C C T C C TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 86 3 179287985 179287985 17 NBL diagnosis snv CDYL missense T60M NM_004824 30-PARDIW CDYL UTR5,MISSENSE,UTR SNP Somatic 3 0.193 SQHIGH 9 35 44 0 48 48 C C T C C TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 9425 6 4892101 4892101 31 NBL diagnosis snv KCNQ5 missense S724P NM_019842 30-PARDIW KCNQ5 MISSENSE SNP Somatic 2 0.176 SQHIGH 5 17 22 0 33 33 Cosmic_Gene T T C T T TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 56479 6 73904508 73904508 21 NBL diagnosis snv HECW1 missense N1497S NM_015052 30-PARDIW HECW1 MISSENSE SNP Somatic -2 0.125 SQHIGH 9 47 56 0 50 50 Cosmic_Gene A A G A A TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 23072 7 43591915 43591915 26 NBL diagnosis snv ABCA13 missense L3452F NM_152701 30-PARDIW ABCA13 MISSENSE SNP Somatic -4 0.106 SQHIGH 5 40 45 0 36 36 Cosmic_Gene C C T C C TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 154664 7 48390389 48390389 13 NBL diagnosis snv MUC17 missense A64V NM_001040105 30-PARDIW MUC17 MISSENSE SNP Somatic 6 0.282 SQHIGH 27 77 104 2 48 50 Cosmic_Gene C C T C C TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 140453 7 100674888 100674888 33 NBL diagnosis snv YIF1A missense L199M NM_020470 30-PARDIW YIF1A MISSENSE SNP Somatic PFAM:PF03878:YIF1 17 0.864 SQHIGH 14 21 35 0 34 34 G G T G G TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 10897 11 66052898 66052898 48 NBL diagnosis snv SLC24A1 missense S658R NM_004727 30-PARDIW SLC24A1 MISSENSE SNP Somatic 11 0.448 SQHIGH 14 31 45 1 47 48 C C A C C TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 9187 15 65931962 65931962 40 NBL diagnosis snv NKD1 missense R347G NM_033119 30-PARDIW NKD1 MISSENSE SNP Somatic 0 0.148 SQHIGH 5 20 25 0 38 38 A A G A A TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 85407 16 50667318 50667318 21 NBL diagnosis snv SYNRG missense P381Q NM_007247 30-PARDIW SYNRG INTRON,MISSENSE SNP Somatic 4 0.215 SQHIGH 8 19 27 0 29 29 Cosmic_Gene G G T G G TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 11276 17 35930941 35930941 28 NBL diagnosis snv ZNF98 missense M42V NM_001098626 30-PARDIW ZNF98 MISSENSE SNP Somatic -10 0.068 SQHIGH 5 11 16 0 17 17 Cosmic_Gene T T C T T TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 148198 19 22586221 22586221 17 NBL diagnosis snv KIR3DL2 silent T397T NM_006737 30-PARDIW KIR3DL2 SYNONYMOUS SNP Somatic -8 0.078 SQHIGH 9 56 65 2 78 81 Cosmic_Gene G G A G G TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 3812 19 55378009 55378009 19 NBL diagnosis snv SLC25A43 missense A211S NM_145305 30-PARDIW SLC25A43 MISSENSE SNP Somatic PFAM:PF00153:Mito_carr -3 0.115 SQHIGH 7 3 10 0 18 18 Cosmic_Gene G T G TARGET-30-PARDIW-01A-01D TARGET-30-PARDIW-10A-01D 203427 X 118544266 118544266 40 NBL diagnosis snv MTTP missense G655W NM_000253 30-PARDUJ MTTP MISSENSE SNP Somatic 4 0.225 SQHIGH 10 32 42 0 48 48 Cosmic_Gene G G T G G TARGET-30-PARDUJ-01A-01D TARGET-30-PARDUJ-10A-01D 4547 4 100532584 100532584 Somatic Illumina 36 85690 15195 100939 103977 29 104057 NBL diagnosis snv PLEKHG1 splice_region S171_E4splice_region NM_001029884 30-PARDUJ PLEKHG1 DONOR SNP Somatic 5 0.270 SQHIGH 29 45 74 0 65 65 Cosmic_Gene A A T A A TARGET-30-PARDUJ-01A-01D TARGET-30-PARDUJ-10A-01D 57480 6 151089878 151089878 Somatic Illumina 93 31770 18964 50816 46409 5 46504 NBL diagnosis snv RHBDF2 missense L144M NM_024599 30-PARDUJ RHBDF2 MISSENSE SNP Somatic PFAM:PF12595:Rhomboid_SP 2 0.179 SQHIGH 9 45 54 0 33 33 G G T G G TARGET-30-PARDUJ-01A-01D TARGET-30-PARDUJ-10A-01D 79651 17 74475289 74475289 20 NBL diagnosis snv SETBP1 missense P299A NM_015559 30-PARDUJ SETBP1 MISSENSE SNP Somatic 7 0.347 SQHIGH 6 24 30 0 20 20 Cosmic_Gene C C G C C TARGET-30-PARDUJ-01A-01D TARGET-30-PARDUJ-10A-01D 26040 18 42530200 42530200 14 NBL diagnosis snv ZNF57 missense D31V NM_173480 30-PARDUJ ZNF57 MISSENSE SNP Somatic 5 0.270 SQHIGH 22 40 62 1 74 75 Cosmic_Gene A A T A A TARGET-30-PARDUJ-01A-01D TARGET-30-PARDUJ-10A-01D 126295 19 2915608 2915608 Somatic Illumina 75 19305 10923 30253 32884 8 32932 NBL diagnosis snv TJP3 missense R385H NM_001267560 30-PARDUJ TJP3 MISSENSE SNP dbsnp.134:rs138412311 Somatic 12 0.601 SQHIGH 17 23 40 0 35 35 Cosmic_Gene G G A G G TARGET-30-PARDUJ-01A-01D TARGET-30-PARDUJ-10A-01D 27134 19 3736189 3736189 Somatic Illumina 55 94781 54295 149085 126378 110 126518 NBL diagnosis snv HSPG2 missense D230N NM_005529 30-PARDYU HSPG2 MISSENSE SNP Somatic PFAM:PF00057:Ldl_recept_a 14 0.521 SQHIGH 16 1 17 0 39 39 Cosmic_Gene C T T C C TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 3339 1 22214446 22214446 124 NBL diagnosis snv LY9 missense K5E NM_002348 30-PARDYU LY9 MISSENSE SNP Somatic 16 0.659 SQHIGH 21 19 40 0 46 46 Cosmic_Gene A A G A A TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 4063 1 160765990 160765990 86 NBL diagnosis snv TMEM63A nonsense W116* NM_014698 30-PARDYU TMEM63A NONSENSE SNP Somatic 16 0.659 SQHIGH 12 18 30 0 28 28 Cosmic_Gene C C T C C TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 9725 1 226058799 226058799 40 NBL diagnosis snv ALK missense T1151M NM_004304 30-PARDYU ALK MISSENSE SNP dbsnp.132:rs113994091 Somatic -5 0.076 SQHIGH 7 42 49 0 46 46 COSMIC:mut:98478 Cosmic_Gene G G A G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 238 2 29445273 29445273 21 NBL diagnosis snv ERC2-IT1 EXON E16_exon NM_015576 30-PARDYU ERC2|C3orf51 INTRON|UTR SNP Somatic 17 0.772 SQHIGH 23 21 44 0 58 58 Cosmic_Gene G G T G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 26059|711 3 55692199 55692199 103 NBL diagnosis snv PTPN13 missense L556F NM_080683 30-PARDYU PTPN13 MISSENSE SNP Somatic -8 0.060 SQHIGH 5 27 32 0 32 32 Cosmic_Gene G G C G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 5783 4 87653612 87653612 16 NBL diagnosis snv TNRC18P1 EXON E13_exon NM_015130 30-PARDYU TBC1D9 INTRON SNP Somatic -4 0.081 SQHIGH 4 11 15 0 28 28 Cosmic_Gene G G C G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 23158 4 141563000 141563000 20 NBL diagnosis snv DIAPH1 missense P695H NM_005219 30-PARDYU DIAPH1 MISSENSE SNP Somatic 4 0.168 SQHIGH 8 8 16 0 17 17 Cosmic_Gene G G T G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 1729 5 140953333 140953333 30 NBL diagnosis snv THBS2 missense G735R NM_003247 30-PARDYU THBS2 MISSENSE SNP dbsnp.134:rs140600818 Somatic -6 0.070 SQHIGH 6 36 42 0 62 62 Cosmic_Gene C C T C C TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 7058 6 169629723 169629723 25 NBL diagnosis snv PREX2 missense G1178V NM_024870 30-PARDYU PREX2 MISSENSE SNP Somatic -8 0.060 SQHIGH 8 7 15 0 14 14 Cosmic_Gene G G T G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 80243 8 69032459 69032459 28 NBL diagnosis snv WWP1 missense R662H NM_007013 30-PARDYU WWP1 MISSENSE SNP Somatic 8 0.248 SQHIGH 7 10 17 0 20 20 Cosmic_Gene G G A G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 11059 8 87454994 87454994 27 NBL diagnosis snv NIPAL2 splice R356_E12splice NM_024759 30-PARDYU NIPAL2 ACCEPTOR SNP Somatic 15 0.586 SQHIGH 27 20 47 0 52 52 G G T G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 79815 8 99205321 99205321 112 NBL diagnosis snv MAF1 splice R71_E4splice NM_032272 30-PARDYU KIAA1875|SHARPIN|MAF1 TSS-UPSTREAM|TSS-UPSTREAM|DISRUPT SNP Somatic -7 0.065 SQHIGH 6 34 40 1 43 44 Cosmic_Gene G G A G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 340390|81858|84232 8 145160978 145160978 14 NBL diagnosis snv AGTPBP1 missense S570L NM_015239 30-PARDYU AGTPBP1 MISSENSE SNP Somatic 6 0.204 SQHIGH 19 26 45 1 46 47 Cosmic_Gene G G A G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 23287 9 88247763 88247763 59 NBL diagnosis snv ZNF483 missense S554R NM_133464 30-PARDYU ZNF483 INTRON,MISSENSE SNP Somatic 15 0.586 SQHIGH 25 29 54 0 61 61 Cosmic_Gene C C A C C TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 158399 9 114304877 114304877 99 NBL diagnosis snv CD151 nonsense R195* NM_004357 30-PARDYU CD151 NONSENSE SNP Somatic PFAM:PF00335:Tetraspannin 5 0.183 SQHIGH 3 26 29 0 55 55 C C T C C TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 977 11 837586 837586 14 NBL diagnosis snv MUC6 missense V223I NM_005961 30-PARDYU MUC6 MISSENSE SNP Somatic 10 0.310 SQHIGH 11 7 18 0 23 23 Cosmic_Gene C C T C C TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 4588 11 1030964 1030964 50 NBL diagnosis snv SHANK2 missense P472Q NM_133266 30-PARDYU SHANK2 MISSENSE SNP Somatic 4 0.168 SQHIGH 12 11 23 0 16 16 Cosmic_Gene G G T G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 22941 11 70333219 70333219 35 NBL diagnosis snv KDM5A missense F1675L NM_001042603 30-PARDYU KDM5A MISSENSE SNP Somatic 12 0.390 SQHIGH 25 26 51 0 55 55 Cosmic_Gene G G T G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 5927 12 394670 394670 97 NBL diagnosis snv SENP8 silent K63K NM_001166340 30-PARDYU SENP8 SYNONYMOUS SNP Somatic PFAM:PF02902:Peptidase_C48 -4 0.081 SQHIGH 4 16 20 0 30 30 Cosmic_Gene G G A G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 123228 15 72432153 72432153 17 NBL diagnosis snv ABHD2 silent G313G NM_007011 30-PARDYU ABHD2 SYNONYMOUS SNP Somatic 8 0.248 SQHIGH 25 23 48 0 45 45 Cosmic_Gene C C A C C TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 11057 15 89734323 89734323 90 NBL diagnosis snv SEC14L5 missense R563L NM_014692 30-PARDYU SEC14L5 MISSENSE SNP Somatic -3 0.089 SQHIGH 6 12 18 0 18 18 G G T G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 9717 16 5058537 5058537 20 NBL diagnosis snv ATP9B splice_region G1024_E27splice_region NM_198531 30-PARDYU ATP9B INTRON SNP Somatic 13 0.442 SQHIGH 22 28 50 0 53 53 Cosmic_Gene G G C G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 374868 18 77132892 77132892 82 NBL diagnosis snv ZNF486 missense G272V NM_052852 30-PARDYU ZNF486 MISSENSE SNP Somatic 13 0.442 SQHIGH 7 21 28 0 37 37 Cosmic_Gene G G T G G TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 90649 19 20308334 20308334 28 NBL diagnosis snv TBC1D22A silent D510D NM_014346 30-PARDYU TBC1D22A SYNONYMOUS SNP Somatic -3 0.089 SQHIGH 8 28 36 0 41 41 Cosmic_Gene C C T C C TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 25771 22 47569245 47569245 28 NBL diagnosis snv ALK missense F1174L NM_004304 30-PAREGK ALK MISSENSE SNP Somatic 4 0.196 SQHIGH 18 12 30 0 21 21 Cosmic_Gene G G C G G TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 238 2 29443695 29443695 Somatic Illumina 55 19732 17857 37602 30259 1 30278 NBL diagnosis snv ERBB4 missense V849I NM_005235 30-PAREGK ERBB4 MISSENSE SNP Somatic 5 0.227 SQHIGH 15 59 74 0 37 37 Cosmic_Gene C C T C C TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 2066 2 212295768 212295768 BadAssay Illumina 29 63 17 80 26 0 26 NBL diagnosis snv POU1F1 nonsense G147* NM_000306 30-PAREGK POU1F1 NONSENSE SNP Somatic PFAM:PF00157:Pou -1 0.097 SQHIGH 9 27 36 0 22 22 Cosmic_Gene C C A C C TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 5449 3 87313438 87313438 21 NBL diagnosis snv TMEM150C silent V249V NM_001080506 30-PAREGK TMEM150C SYNONYMOUS SNP Somatic -1 0.097 SQHIGH 14 50 64 0 83 83 Cosmic_Gene C C A C C TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 441027 4 83406667 83406667 54 NBL diagnosis snv HMGCLL1 missense A317T NM_019036 30-PAREGK HMGCLL1 MISSENSE SNP Somatic 7 0.336 SQHIGH 19 50 69 0 55 55 Cosmic_Gene C C T C C TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 54511 6 55304294 55304294 Somatic Illumina 54 130666 44501 175233 156280 127 156459 NBL diagnosis snv PLAG1 missense P458Q NM_002655 30-PAREGK PLAG1 MISSENSE SNP Somatic 2 0.144 SQHIGH 14 37 51 0 37 37 Cosmic_Gene G G T G G TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 5324 8 57078932 57078932 Somatic Illumina 37 33594 9036 43146 40972 2 41453 NBL diagnosis snv LPAR5 silent A65A NM_020400 30-PAREGK LPAR5 SYNONYMOUS SNP dbsnp.132:rs116577757 Somatic PFAM:PF00001:7tm_1 0 0.109 SQHIGH 8 39 47 0 33 33 Cosmic_Gene C C T C C TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 57121 12 6730220 6730220 20 NBL diagnosis snv STAB2 splice_region S303_E9splice_region NM_017564 30-PAREGK STAB2 ACCEPTOR SNP Somatic 3 0.167 SQHIGH 10 30 40 0 22 22 Cosmic_Gene C C T C C TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 55576 12 104033895 104033895 Somatic Illumina 21 76156 19610 95768 88336 59 88400 NBL diagnosis snv STAB2 missense T1068K NM_017564 30-PAREGK STAB2 MISSENSE SNP Somatic PFAM:PF02469:Fasciclin 6 0.293 SQHIGH 25 53 78 0 46 46 Cosmic_Gene C C A C C TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 55576 12 104084222 104084222 Somatic Illumina 58 44171 14202 58413 52071 1 52090 NBL diagnosis snv UNC45B missense D613G NM_173167 30-PAREGK UNC45B MISSENSE SNP Somatic -5 0.064 SQHIGH 8 61 69 0 43 43 Cosmic_Gene A A G A A TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 146862 17 33501262 33501262 18 NBL diagnosis snv DSG4 missense G629V NM_001134453 30-PAREGK DSG4 MISSENSE SNP Somatic -8 0.048 SQHIGH 12 26 38 1 40 41 Cosmic_Gene G G T G G TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 147409 18 28986289 28986289 Somatic Illumina 34 26538 9377 35939 32057 2 32073 NBL diagnosis snv PAPL silent G316G NM_001004318 30-PAREGK PAPL SYNONYMOUS SNP Somatic PFAM:PF00149:Metallophos -10 0.041 SQHIGH 6 33 39 0 37 37 G G T G G TARGET-30-PAREGK-01A-01D TARGET-30-PAREGK-10A-01D 390928 19 39591822 39591822 18 NBL diagnosis snv MAGI3 silent P1446P NM_001142782 30-PARETE MAGI3 UTR3,SYNONYMOUS SNP Somatic 3 0.173 SQHIGH 13 40 53 1 46 47 Cosmic_Gene G G T G G TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 260425 1 114226528 114226528 30 NBL diagnosis snv HGFAC missense P35T NM_001528 30-PARETE HGFAC MISSENSE SNP Somatic 13 0.511 SQHIGH 13 22 35 0 30 30 Cosmic_Gene C C A C C TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 3083 4 3443831 3443831 40 NBL diagnosis snv PTCHD4 missense F226I NM_001013732 30-PARETE PTCHD4 MISSENSE SNP Somatic PFAM:PF02460:Patched -10 0.054 SQHIGH 4 29 33 0 46 46 Cosmic_Gene A A T A A TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 442213 6 47976601 47976601 16 NBL diagnosis snv LPA missense V1259A NM_005577 30-PARETE LPA MISSENSE SNP Somatic 16 0.722 SQHIGH 11 23 34 0 56 56 Cosmic_Gene A A G A A TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 4018 6 161011987 161011987 52 NBL diagnosis snv RGR missense S142Y NM_002921 30-PARETE RGR MISSENSE SNP Somatic PFAM:PF00001:7tm_1 17 0.825 SQHIGH 22 18 40 0 57 57 Cosmic_Gene C C A C C TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 5995 10 86012667 86012667 105 NBL diagnosis snv BDNF missense A119T NM_170735 30-PARETE BDNF|BDNF-AS1 MISSENSE|INTRON SNP Somatic -7 0.069 SQHIGH 3 18 21 0 43 43 C C T C C TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 627|497258 11 27679757 27679757 15 NBL diagnosis snv LGR5 silent I599I NM_003667 30-PARETE LGR5 SYNONYMOUS SNP Somatic 2 0.156 SQHIGH 4 25 29 0 31 31 Cosmic_Gene C C T C C TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 8549 12 71977587 71977587 13 NBL diagnosis snv APAF1 missense G148V NM_013229 30-PARETE IKBIP|APAF1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00485:PRK 8 0.304 SQHIGH 11 35 46 1 32 33 Cosmic_Gene G G T G G TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 121457|317 12 99043412 99043412 20 NBL diagnosis snv FANCM nonsense E1651* NM_020937 30-PARETE FANCM NONSENSE SNP Somatic 6 0.245 SQHIGH 13 17 30 0 39 39 Cosmic_Gene G G T G G TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 57697 14 45658176 45658176 55 NBL diagnosis snv PLIN5 missense Q228K NM_001013706 30-PARETE PLIN5 MISSENSE SNP Somatic PFAM:PF03036:Perilipin 9 0.335 SQHIGH 11 32 43 0 50 50 G G T G G TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 440503 19 4525683 4525683 40 NBL diagnosis mnv ERCC5 missense E358V NM_000123 30-PARETE BIVM-ERCC5|ERCC5 MISSENSE|MISSENSE Sub Somatic 1 0.697 SQHIGH 5 19 24 0 28 28 Cosmic_Gene AA AA TG AA AA TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 100533467|2073 13 103514572 103514573 18 NBL diagnosis snv HERPUD2 missense N335D NM_022373 30-PARFRE HERPUD2 MISSENSE SNP Somatic -6 0.096 SQHIGH 5 14 19 0 16 16 Cosmic_Gene T T C T T TARGET-30-PARFRE-01A-01D TARGET-30-PARFRE-10A-01D 64224 7 35673978 35673978 14 NBL diagnosis snv GRTP1 missense R66Q NM_024719 30-PARFRE GRTP1 MISSENSE SNP Somatic PFAM:PF00566:TBC 16 0.768 SQHIGH 11 9 20 0 24 24 C C T C C TARGET-30-PARFRE-01A-01D TARGET-30-PARFRE-10A-01D 79774 13 114009781 114009781 47 NBL diagnosis snv VWA1 missense R54Q NM_022834 30-PARFWB VWA1 INTRON,MISSENSE SNP Somatic 19 0.944 SQHIGH 23 6 29 0 67 67 G G A G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 64856 1 1372394 1372394 163 NBL diagnosis snv PRAMEF12 missense L31M NM_001080830 30-PARFWB PRAMEF12 MISSENSE SNP Somatic 18 0.883 SQHIGH 34 3 37 0 53 53 Cosmic_Gene C A A C C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 390999 1 12835101 12835101 210 NBL diagnosis snv DUSP2 missense Q228H NM_004418 30-PARFWB DUSP2 MISSENSE SNP Somatic PFAM:PF00782:DSPc 17 0.832 SQHIGH 33 34 67 0 67 67 Cosmic_Gene C C A C C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 1844 2 96809939 96809939 122 NBL diagnosis snv ARID5A missense K10E NM_212481 30-PARFWB ARID5A MISSENSE SNP Somatic 4 0.171 SQHIGH 5 26 31 0 35 35 A A G A A TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 10865 2 97213162 97213162 17 NBL diagnosis snv ARAP2 missense Q1321K NM_015230 30-PARFWB ARAP2 MISSENSE SNP Somatic 14 0.567 SQHIGH 9 2 11 0 27 27 Cosmic_Gene G G T G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 116984 4 36121274 36121274 65 NBL diagnosis snv ITGA2 missense L1179F NM_002203 30-PARFWB ITGA2 MISSENSE SNP Somatic 4 0.171 SQHIGH 8 8 16 0 18 18 Cosmic_Gene C C T C C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 3673 5 52386418 52386418 31 NBL diagnosis snv SPINK5 silent D1093D NM_001127698 30-PARFWB SPINK5 SYNONYMOUS SNP Somatic 2 0.142 SQHIGH 9 22 31 1 39 40 Cosmic_Gene C C T C C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 11005 5 147516548 147516548 27 NBL diagnosis snv TNXB missense P176L NM_019105 30-PARFWB TNXB MISSENSE SNP Somatic 5 0.189 SQHIGH 16 46 62 0 67 67 G G A G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 7148 6 32065103 32065103 56 NBL diagnosis snv MTERF1 missense F97S NM_006980 30-PARFWB MTERF1 MISSENSE SNP Somatic PFAM:PF02536:mTERF 9 0.304 SQHIGH 19 24 43 0 36 36 A A G A A TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 7978 7 91503818 91503818 60 NBL diagnosis snv RIMS2 missense K497N NM_001100117 30-PARFWB RIMS2 MISSENSE SNP Somatic 17 0.832 SQHIGH 19 24 43 0 56 56 Cosmic_Gene G G C G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 9699 8 104898318 104898318 81 NBL diagnosis snv CSMD3 missense S400C NM_198123 30-PARFWB CSMD3 INTRON,MISSENSE SNP Somatic 12 0.432 SQHIGH 27 20 47 0 50 50 Cosmic_Gene T T A T T TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 114788 8 113988210 113988210 109 NBL diagnosis snv TET1 silent R1427R NM_030625 30-PARFWB TET1 SYNONYMOUS SNP Somatic PFAM:PF12880:TET_Cys_rich 15 0.650 SQHIGH 19 21 40 1 54 55 Cosmic_Gene C C A C C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 80312 10 70411605 70411605 74 NBL diagnosis snv IDE missense A12T NM_004969 30-PARFWB IDE MISSENSE SNP Somatic 10 0.339 SQHIGH 12 12 24 0 42 42 Cosmic_Gene C C T C C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 3416 10 94333743 94333743 63 NBL diagnosis snv TM9SF3 nonsense Y60* NM_020123 30-PARFWB TM9SF3 NONSENSE SNP Somatic PFAM:PF02990:EMP70 17 0.832 SQHIGH 24 24 48 1 46 47 G G T G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 56889 10 98336509 98336509 76 NBL diagnosis snv MUC5B silent T4866T NM_002458 30-PARFWB MUC5B SYNONYMOUS SNP Somatic -7 0.068 SQHIGH 9 7 16 0 32 32 C C T C C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 727897 11 1272708 1272708 52 NBL diagnosis snv OSBPL5 silent I542I NM_020896 30-PARFWB OSBPL5 SYNONYMOUS SNP Somatic PFAM:PF01237:Oxysterol_BP 18 0.883 SQHIGH 21 6 27 0 62 62 Cosmic_Gene G G T G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 114879 11 3115560 3115560 146 NBL diagnosis snv OR5B3 missense S72Y NM_001005469 30-PARFWB OR5B3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.189 SQHIGH 18 23 41 0 37 37 G G T G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 441608 11 58170668 58170668 60 NBL diagnosis snv DYNC1H1 silent R4638R NM_001376 30-PARFWB DYNC1H1 SYNONYMOUS SNP Somatic PFAM:PF03028:Dynein_heavy 2 0.142 SQHIGH 7 18 25 0 40 40 Cosmic_Gene G G A G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 1778 14 102516873 102516873 32 NBL diagnosis snv SLFN14 missense L630I NM_001129820 30-PARFWB SLFN14 MISSENSE SNP Somatic -10 0.056 SQHIGH 12 23 35 0 15 15 Cosmic_Gene G G T G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 342618 17 33879765 33879765 22 NBL diagnosis snv ZNF652 missense P546S NM_001145365 30-PARFWB ZNF652 MISSENSE SNP Somatic 11 0.379 SQHIGH 65 34 99 0 52 52 Cosmic_Gene G G A G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 22834 17 47375960 47375960 171 NBL diagnosis snv GREB1L missense Q459H NM_001142966 30-PARFWB GREB1L MISSENSE SNP Somatic 15 0.650 SQHIGH 28 30 58 1 66 67 G G C G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 80000 18 19024354 19024354 100 NBL diagnosis snv COL5A3 missense I1228M NM_015719 30-PARFWB COL5A3 MISSENSE SNP Somatic 10 0.339 SQHIGH 15 25 40 0 51 51 Cosmic_Gene A A C A A TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 50509 19 10083685 10083685 61 NBL diagnosis snv POP4 missense L135I NM_006627 30-PARFWB POP4 MISSENSE,UTR SNP Somatic PFAM:PF01868:UPF0086 15 0.650 SQHIGH 31 26 57 0 70 70 C C A C C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 10775 19 30103064 30103064 135 NBL diagnosis snv BCAT2 missense S179L NM_001190 30-PARFWB BCAT2 MISSENSE,UTR SNP Somatic PFAM:PF01063:Aminotran_4 8 0.274 SQHIGH 10 11 21 0 41 41 Cosmic_Gene G G A G G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 587 19 49303091 49303091 55 NBL diagnosis snv ATRX missense R2188Q NM_000489 30-PARFWB ATRX MISSENSE SNP Somatic 9 0.304 SQHIGH 9 1 10 0 9 9 Cosmic_Gene C T C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 546 X 76813058 76813058 40 NBL diagnosis snv DRP2 silent C379C NM_001939 30-PARFWB DRP2 SYNONYMOUS SNP Somatic PFAM:PF00397:WW 18 0.883 SQHIGH 21 1 22 0 23 23 Cosmic_Gene C T C TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 1821 X 100500398 100500398 112 NBL diagnosis mnv NUDT17 nonsense S193_Q194>S* NM_001012758 30-PARFWB NUDT17 NONSENSE Sub Somatic -10 0.271 SQHIGH 5 28 33 0 23 23 GT GT AC GT GT TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 200035 1 145587734 145587735 12 NBL diagnosis mnv KCNA5 missense S599C NM_002234 30-PARFWB KCNA5 MISSENSE Sub Somatic -1 0.544 SQHIGH 25 37 62 0 60 60 Cosmic_Gene CC CC GT CC CC TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 3741 12 5155109 5155110 87 NBL diagnosis snv SPEN splice_region S294_E4splice_region NM_015001 30-PARGDJ SPEN ACCEPTOR SNP Somatic 6 0.274 SQHIGH 7 4 11 0 23 23 Cosmic_Gene G G T G G TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 23013 1 16235812 16235812 42 NBL diagnosis snv KHDRBS1 missense H228Y NM_006559 30-PARGDJ KHDRBS1 MISSENSE SNP Somatic 18 0.905 SQHIGH 18 17 35 0 36 36 Cosmic_Gene C C T C C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 10657 1 32498846 32498846 68 NBL diagnosis snv MACF1 missense A2885D NM_012090 30-PARGDJ MACF1 MISSENSE SNP Somatic 13 0.561 SQHIGH 12 21 33 0 39 39 Cosmic_Gene C C A C C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 23499 1 39853354 39853354 46 NBL diagnosis snv WNT2B missense T278P NM_024494 30-PARGDJ WNT2B MISSENSE SNP Somatic PFAM:PF00110:wnt 7 0.303 SQHIGH 25 31 56 2 41 43 Cosmic_Gene A A C A A TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 7482 1 113059893 113059893 54 NBL diagnosis snv XDH missense G1194E NM_000379 30-PARGDJ XDH MISSENSE SNP Somatic PFAM:PF02738:Ald_Xan_dh_C2 -1 0.126 SQHIGH 25 22 47 1 26 27 Cosmic_Gene C C T C C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 7498 2 31564199 31564199 52 NBL diagnosis snv FER1L5 missense P273S NM_001293083 30-PARGDJ FER1L5 MISSENSE SNP Somatic PFAM:PF00168:C2 PFAM:PF08151:FerI -2 0.113 SQHIGH 13 45 58 0 50 50 Cosmic_Gene C C T C C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 90342 2 97327100 97327100 38 NBL diagnosis snv SPINK5 splice_region Q564_E18splice_region NM_001127698 30-PARGDJ SPINK5 INTRON SNP Somatic 5 0.245 SQHIGH 18 32 50 0 52 52 Cosmic_Gene T T G T T TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 11005 5 147488408 147488408 64 NBL diagnosis snv ZFP57 missense L80Q NM_001109809 30-PARGDJ ZFP57 MISSENSE SNP Somatic 11 0.451 SQHIGH 49 27 76 0 56 56 Cosmic_Gene A A T A A TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 346171 6 29643721 29643721 162 NBL diagnosis snv HIVEP2 splice_region G1781_E7splice_region NM_006734 30-PARGDJ HIVEP2 ACCEPTOR SNP Somatic 1 0.156 SQHIGH 24 23 47 0 36 36 Cosmic_Gene A A C A A TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 3097 6 143086120 143086120 75 NBL diagnosis snv KANK1 missense S846R NM_015158 30-PARGDJ KANK1 MISSENSE SNP Somatic -10 0.053 SQHIGH 3 12 15 0 26 26 Cosmic_Gene T T A T T TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 23189 9 713304 713304 14 NBL diagnosis snv TMEM132D missense R241M NM_133448 30-PARGDJ TMEM132D MISSENSE SNP Somatic -3 0.103 SQHIGH 11 38 49 0 43 43 Cosmic_Gene C C A C C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 121256 12 130184601 130184601 33 NBL diagnosis snv COG3 silent S536S NM_031431 30-PARGDJ COG3 SYNONYMOUS SNP Somatic 8 0.332 SQHIGH 11 22 33 1 29 30 Cosmic_Gene C C T C C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 83548 13 46083840 46083840 26 NBL diagnosis snv SENP3 missense D278G NM_015670 30-PARGDJ SENP3-EIF4A1|SENP3 UTR|MISSENSE SNP Somatic 14 0.629 SQHIGH 15 21 36 0 39 39 Cosmic_Gene A A G A A TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 100533955|26168 17 7468059 7468059 56 NBL diagnosis snv KRT16 splice E258_E4splice NM_005557 30-PARGDJ KRT16 ACCEPTOR SNP Somatic 20 1.000 SQHIGH 22 14 36 0 36 36 Cosmic_Gene G G T G G TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 3868 17 39767485 39767485 87 NBL diagnosis snv OXLD1 missense G58V NM_001039842 30-PARGDJ C17orf90|CCDC137 MISSENSE|TSS-UPSTREAM SNP Somatic -6 0.076 SQHIGH 10 63 73 0 49 49 Cosmic_Gene C C A C C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 339229|339230 17 79632502 79632502 23 NBL diagnosis snv C19orf35 silent P323P NM_198532 30-PARGDJ C19orf35 SYNONYMOUS SNP Somatic 3 0.194 SQHIGH 12 8 20 0 23 23 Cosmic_Gene G G T G G TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 374872 19 2276132 2276132 51 NBL diagnosis snv UBA2 missense W284L NM_005499 30-PARGDJ UBA2 MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD 8 0.332 SQHIGH 8 11 19 0 33 33 Cosmic_Gene G G T G G TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 10054 19 34941249 34941249 40 NBL diagnosis snv ZNF781 silent L140L NM_152605 30-PARGDJ ZNF781 SYNONYMOUS SNP Somatic 3 0.194 SQHIGH 9 34 43 1 46 47 C C A C C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 163115 19 38160630 38160630 23 NBL diagnosis snv ZNF551 splice_region G69_E3splice_region NM_138347 30-PARGDJ ZNF551 ACCEPTOR SNP Somatic -5 0.084 SQHIGH 7 37 44 0 37 37 Cosmic_Gene C C A C C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 90233 19 58197839 58197839 20 NBL diagnosis snv TMPRSS15 silent G459G NM_002772 30-PARGDJ TMPRSS15 SYNONYMOUS SNP Somatic 16 0.779 SQHIGH 17 22 39 1 35 36 Cosmic_Gene T T C T T TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 5651 21 19715874 19715874 47 NBL diagnosis mnv TRIP12 missense D1793I NM_004238 30-PARGDJ TRIP12 MISSENSE Sub Somatic -4 0.408 SQHIGH 11 31 42 0 40 40 Cosmic_Gene TC TC AT TC TC TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 9320 2 230638904 230638905 35 NBL diagnosis snv SV2A missense D404V NM_014849 30-PARGUX SV2A MISSENSE SNP Somatic 14 0.691 SQHIGH 22 24 46 1 34 35 Cosmic_Gene T T A T T TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 9900 1 149881092 149881092 55 NBL diagnosis snv CACNA1S splice Q609_E12splice NM_000069 30-PARGUX CACNA1S DISRUPT SNP Somatic 8 0.355 SQHIGH 14 21 35 0 48 48 Cosmic_Gene C C T C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 779 1 201046047 201046047 Somatic Illumina 61 68610 48507 117125 115820 34 115873 NBL diagnosis snv LEMD1-AS1 EXON E3_exon NM_001001552 30-PARGUX LEMD1|LOC284576 INTRON|UTR SNP Somatic 12 0.558 SQHIGH 19 30 49 0 56 56 T T G T T TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 93273|284576 1 205354768 205354768 73 NBL diagnosis snv CR2 silent T45T NM_001006658 30-PARGUX CR2 SYNONYMOUS SNP dbsnp.134:rs139230710 Somatic 13 0.622 SQHIGH 14 19 33 0 44 44 Cosmic_Gene C C T C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 1380 1 207639947 207639947 60 NBL diagnosis snv SPATA17-AS1 EXON E8_exon NM_138796 30-PARGUX SPATA17 INTRON SNP Somatic 10 0.443 SQHIGH 30 35 65 0 69 69 Cosmic_Gene A A G A A TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 128153 1 217958371 217958371 114 NBL diagnosis snv TRIM11 missense Q255K NM_145214 30-PARGUX TRIM11 MISSENSE SNP Somatic -5 0.088 SQHIGH 4 15 19 0 76 76 Cosmic_Gene G G T G G TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 81559 1 228584744 228584744 29 NBL diagnosis snv OR14C36 silent V297V NM_001001918 30-PARGUX OR14C36 SYNONYMOUS SNP Somatic 14 0.691 SQHIGH 23 6 29 1 33 34 Cosmic_Gene G G T G G TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 127066 1 248512967 248512967 100 NBL diagnosis snv SERPINE2 silent L293L NM_006216 30-PARGUX SERPINE2 SYNONYMOUS SNP Somatic 3 0.191 SQHIGH 23 29 52 0 56 56 Cosmic_Gene C C G C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 5270 2 224849474 224849474 87 NBL diagnosis snv ANK2 missense T1189S NM_001148 30-PARGUX ANK2 MISSENSE SNP Somatic -10 0.058 SQHIGH 6 23 29 0 46 46 Cosmic_Gene C C G C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 287 4 114257188 114257188 26 NBL diagnosis snv MARCH6 missense R748S NM_005885 30-PARGUX MARCH6 MISSENSE SNP Somatic 6 0.286 SQHIGH 26 43 69 0 72 72 Cosmic_Gene G G T G G TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 10299 5 10417477 10417477 Somatic Illumina 94 59401 9908 69362 92627 28 92702 NBL diagnosis snv SV2C missense D130E NM_014979 30-PARGUX SV2C MISSENSE SNP Somatic 5 0.247 SQHIGH 15 38 53 0 79 80 Cosmic_Gene C C G C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 22987 5 75427965 75427965 65 NBL diagnosis snv PCDHB11 missense K198E NM_018931 30-PARGUX PCDHB11 MISSENSE SNP Somatic 1 0.156 SQHIGH 13 52 65 0 76 76 Cosmic_Gene A A G A A TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 56125 5 140579939 140579939 BadAssay Illumina 47 0 0 0 0 0 0 NBL diagnosis snv FAT2 missense C1014F NM_001447 30-PARGUX FAT2 MISSENSE SNP Somatic -4 0.095 SQHIGH 17 36 53 0 53 53 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 2196 5 150945452 150945452 58 NBL diagnosis snv GRM6 splice K812_E9splice NM_000843 30-PARGUX GRM6 DISRUPT SNP Somatic 10 0.443 SQHIGH 13 28 41 0 46 46 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 2916 5 178409910 178409910 Somatic Illumina 48 14996 5749 20752 26798 1 26809 NBL diagnosis snv MUC21 missense A135V NM_001010909 30-PARGUX MUC21 MISSENSE SNP dbsnp.134:rs138756149 Somatic 1 0.156 SQHIGH 15 35 50 0 91 91 Cosmic_Gene C C T C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 394263 6 30954356 30954356 74 NBL diagnosis snv C6orf25 missense R85H NM_025260 30-PARGUX LY6G6C|C6orf25 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF07686:V-set 13 0.622 SQHIGH 13 20 33 0 51 51 G G A G G TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 80740|80739 6 31691608 31691608 Somatic Sanger 60 91 161 253 170 0 172 NBL diagnosis snv TNFRSF10A missense W415C NM_003844 30-PARGUX TNFRSF10A MISSENSE SNP dbsnp.134:rs150893670 Somatic 4 0.213 SQHIGH 9 24 33 0 30 30 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 8797 8 23049369 23049369 28 NBL diagnosis snv GLDC missense I933F NM_000170 30-PARGUX GLDC MISSENSE SNP Somatic 15 0.776 SQHIGH 13 22 35 0 57 57 Cosmic_Gene T T A T T TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 2731 9 6536105 6536105 62 NBL diagnosis snv COL13A1 silent F602F NM_001130103 30-PARGUX COL13A1 SYNONYMOUS SNP Somatic 7 0.319 SQHIGH 31 43 74 0 97 97 Cosmic_Gene C C T C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 1305 10 71697432 71697432 132 NBL diagnosis snv KNDC1 missense G709V NM_152643 30-PARGUX KNDC1 MISSENSE SNP Somatic 13 0.622 SQHIGH 12 22 34 0 42 42 Cosmic_Gene G G T G G TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 85442 10 135012138 135012138 Somatic Illumina 48 2424 1669 4095 2287 0 2287 NBL diagnosis snv CYP2E1 missense S223R NM_000773 30-PARGUX CYP2E1 MISSENSE SNP Somatic PFAM:PF00067:p450 4 0.213 SQHIGH 18 33 51 0 44 44 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 1571 10 135346216 135346216 Somatic Illumina 56 37282 15207 52504 55960 10 55992 NBL diagnosis snv AMPD3 silent L620L NM_000480 30-PARGUX AMPD3 SYNONYMOUS SNP Somatic 12 0.558 SQHIGH 25 21 46 0 46 46 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 272 11 10523128 10523128 95 NBL diagnosis snv ATM missense L1702S NM_000051 30-PARGUX ATM MISSENSE SNP Somatic -8 0.069 SQHIGH 3 12 15 0 27 27 Cosmic_Gene T T C T T TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 472 11 108170540 108170540 14 NBL diagnosis snv AMHR2 silent A309A NM_020547 30-PARGUX AMHR2 SYNONYMOUS SNP Somatic PFAM:PF00069:Pkinase 13 0.622 SQHIGH 15 21 36 0 40 40 Cosmic_Gene C C G C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 269 12 53822754 53822754 57 NBL diagnosis snv GLI1 missense L1040P NM_005269 30-PARGUX GLI1 MISSENSE SNP Somatic -7 0.075 SQHIGH 8 51 59 0 73 73 Cosmic_Gene T T C T T TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 2735 12 57865642 57865642 29 NBL diagnosis snv LRRC16B missense V59F NM_138360 30-PARGUX LRRC16B MISSENSE SNP Somatic 11 0.499 SQHIGH 14 24 38 0 50 50 Cosmic_Gene G G T G G TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 90668 14 24523336 24523336 58 NBL diagnosis snv KTN1 missense Q618L NM_001079521 30-PARGUX KTN1 MISSENSE SNP Somatic -1 0.127 SQHIGH 15 20 35 0 31 31 Cosmic_Gene A A T A A TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 3895 14 56106660 56106660 Somatic Illumina 49 89647 66816 156585 178329 64 178538 NBL diagnosis snv FOXN3-AS2 EXON E1_exon NM_001085471 30-PARGUX FOXN3|PRO1768 INTRON|UTR SNP Somatic 14 0.691 SQHIGH 18 16 34 0 34 34 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 1112|29018 14 90043147 90043147 68 NBL diagnosis snv UBE3A missense V360L NM_130838 30-PARGUX UBE3A MISSENSE SNP Somatic -9 0.063 SQHIGH 7 51 58 0 65 65 Cosmic_Gene C C G C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 7337 15 25616183 25616183 24 NBL diagnosis snv CSPG4 missense G1910E NM_001897 30-PARGUX CSPG4 MISSENSE SNP Somatic 11 0.499 SQHIGH 12 15 27 0 44 44 Cosmic_Gene C C T C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 1464 15 75969131 75969131 Somatic Illumina 59 35578 23796 59379 60228 12 60242 NBL diagnosis snv CSPG4 splice_region Q1483_E5splice_region NM_001897 30-PARGUX CSPG4 INTRON SNP Somatic -1 0.127 SQHIGH 21 16 37 0 40 40 Cosmic_Gene A A T A A TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 1464 15 75977067 75977067 85 NBL diagnosis snv IFT140 splice_region G212_E6splice_region NM_014714 30-PARGUX LOC100507235|IFT140 INTRON|DONOR SNP Somatic 18 0.938 SQHIGH 18 17 35 0 64 64 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 100507235|9742 16 1642171 1642171 97 NBL diagnosis snv TOX3 missense M154I NM_001080430 30-PARGUX TOX3 MISSENSE SNP Somatic 0 0.140 SQHIGH 13 18 31 0 44 44 C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 27324 16 52484405 52484405 58 NBL diagnosis snv NLRC5 missense L1489H NM_032206 30-PARGUX NLRC5 MISSENSE SNP Somatic 13 0.622 SQHIGH 16 19 35 0 45 45 Cosmic_Gene T T A T T TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 84166 16 57101707 57101707 68 NBL diagnosis snv PIEZO1 silent A198A NM_001142864 30-PARGUX FLJ40448|PIEZO1|LOC100289580 TSS-UPSTREAM|SYNONYMOUS|UTR SNP Somatic -2 0.115 SQHIGH 10 21 31 1 46 47 C C T C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 339059|9780|100289580 16 88805016 88805016 36 NBL diagnosis snv WDR81 missense G673W NM_001163809 30-PARGUX WDR81 INTRON,MISSENSE SNP Somatic 8 0.355 SQHIGH 36 27 63 0 58 58 Cosmic_Gene G G T G G TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 124997 17 1630270 1630270 132 NBL diagnosis snv LAMA3 missense P724Q NM_198129 30-PARGUX LAMA3 MISSENSE SNP Somatic 11 0.499 SQHIGH 34 25 59 0 47 47 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 3909 18 21399828 21399828 Somatic Illumina 113 69305 45855 115199 99706 4 99733 NBL diagnosis snv NCLN silent G167G NM_020170 30-PARGUX NCLN SYNONYMOUS SNP Somatic -10 0.058 SQHIGH 4 4 8 0 13 13 C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 56926 19 3193407 3193407 19 NBL diagnosis snv ZNF780B missense R717P NM_001005851 30-PARGUX ZNF780B MISSENSE SNP Somatic 8 0.355 SQHIGH 35 40 75 0 82 82 Cosmic_Gene C C G C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 163131 19 40540616 40540616 Somatic Illumina 136 24096 16847 41044 43028 3 43284 NBL diagnosis snv ZNF225 missense Q279E NM_013362 30-PARGUX ZNF225 MISSENSE SNP Somatic 9 0.397 SQHIGH 25 27 52 0 78 78 C C G C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 7768 19 44635602 44635602 119 NBL diagnosis snv RAD21L1 silent I355I NM_001136566 30-PARGUX RAD21L1 SYNONYMOUS SNP Somatic -2 0.115 SQHIGH 6 22 28 0 20 20 T T C T T TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 642636 20 1223471 1223471 15 NBL diagnosis snv SEMG2 missense S315Y NM_003008 30-PARGUX SEMG2 MISSENSE SNP Somatic PFAM:PF05474:Semenogelin 12 0.558 SQHIGH 64 34 98 1 74 75 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 6407 20 43851217 43851217 203 NBL diagnosis snv HLCS silent L371L NM_000411 30-PARGUX HLCS SYNONYMOUS SNP Somatic PFAM:PF09825:BPL_N 3 0.191 SQHIGH 19 36 55 0 36 36 Cosmic_Gene A A C A A TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 3141 21 38302617 38302617 48 NBL diagnosis snv GTPBP1 missense T249N NM_004286 30-PARGUX GTPBP1 MISSENSE SNP Somatic 6 0.286 SQHIGH 21 40 61 1 66 67 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 9567 22 39112917 39112917 Somatic Illumina 66 47404 30823 78301 92227 3 92253 NBL diagnosis snv PLXNB2 missense E654A NM_012401 30-PARGUX PLXNB2 MISSENSE SNP Somatic 6 0.286 SQHIGH 10 18 28 0 43 43 Cosmic_Gene T T G T T TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 23654 22 50724444 50724444 Somatic Illumina 45 16448 8744 25229 23122 1 23166 NBL diagnosis snv SUV39H1 silent D111D NM_003173 30-PARGUX SUV39H1 SYNONYMOUS SNP Somatic -1 0.127 SQHIGH 6 14 20 0 52 52 C C T C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 6839 X 48558649 48558649 36 NBL diagnosis snv MIR767 EXON E1_exon NM_000808 30-PARGUX MIR767|MIR105-1|GABRA3 UTR|TSS-UPSTREAM|INTRON SNP Somatic -6 0.081 SQHIGH 7 31 38 0 45 45 Cosmic_Gene C C A C C TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 768215|406897|2556 X 151561980 151561980 hsa-mir-767:MI0003763 25 NBL diagnosis snv RBBP4 missense E275D NM_005610 30-PARHAM RBBP4 MISSENSE SNP Somatic -8 0.060 SQHIGH 5 18 23 0 25 25 Cosmic_Gene A A T A A TARGET-30-PARHAM-01A-01D TARGET-30-PARHAM-10A-01D 5928 1 33134895 33134895 17 NBL diagnosis snv ALK missense R1275Q NM_004304 30-PARHAM ALK MISSENSE SNP dbsnp.132:rs113994087 Somatic -5 0.077 SQHIGH 13 15 28 0 35 35 COSMIC:mut:28056 Cosmic_Gene C C T C C TARGET-30-PARHAM-01A-01D TARGET-30-PARHAM-10A-01D 238 2 29432664 29432664 54 NBL diagnosis snv ANKRD66 missense S130T NM_001162435 30-PARHAM ANKRD66 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 0 0.127 SQHIGH 7 27 34 0 33 33 G G C G G TARGET-30-PARHAM-01A-01D TARGET-30-PARHAM-10A-01D 100287718 6 46721519 46721519 22 NBL diagnosis snv VNN1 missense A496T NM_004666 30-PARHAM VNN1 MISSENSE SNP Somatic -2 0.103 SQHIGH 6 20 26 0 25 25 Cosmic_Gene C C T C C TARGET-30-PARHAM-01A-01D TARGET-30-PARHAM-10A-01D 8876 6 133004335 133004335 19 NBL diagnosis snv SMARCA4 missense S140T NM_001128849 30-PARHAM SMARCA4 MISSENSE SNP Somatic -6 0.072 SQHIGH 5 13 18 1 27 28 Cosmic_Gene T T A T T TARGET-30-PARHAM-01A-01D TARGET-30-PARHAM-10A-01D 6597 19 11096927 11096927 16 NBL diagnosis snv TMEM190 silent E34E NM_139172 30-PARHAM TMEM190 SYNONYMOUS SNP Somatic -7 0.066 SQHIGH 3 13 16 0 33 33 G G A G G TARGET-30-PARHAM-01A-01D TARGET-30-PARHAM-10A-01D 147744 19 55888968 55888968 15 NBL diagnosis snv COL4A6 missense P677A NM_001847 30-PARHAM COL4A6 MISSENSE SNP Somatic 4 0.188 SQHIGH 8 18 26 1 32 33 Cosmic_Gene G G C G G TARGET-30-PARHAM-01A-01D TARGET-30-PARHAM-10A-01D 1288 X 107423850 107423850 24 NBL relapse snv ALK missense R1275Q NM_004304 30-PARHAM ALK MISSENSE SNP dbsnp.132:rs113994087 Somatic -5 0.075 SQHIGH 10 13 23 0 35 35 COSMIC:mut:28056 Cosmic_Gene C C T C C TARGET-30-PARHAM-02A-01D TARGET-30-PARHAM-10A-01D 238 2 29432664 29432664 47 NBL relapse snv ANKRD66 missense S130T NM_001162435 30-PARHAM ANKRD66 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 5 0.204 SQHIGH 9 21 30 0 33 33 G G C G G TARGET-30-PARHAM-02A-01D TARGET-30-PARHAM-10A-01D 100287718 6 46721519 46721519 32 NBL relapse snv POSTN missense L503I NM_006475 30-PARHAM POSTN MISSENSE SNP Somatic 5 0.204 SQHIGH 7 21 28 0 23 23 Cosmic_Gene A A T A A TARGET-30-PARHAM-02A-01D TARGET-30-PARHAM-10A-01D 10631 13 38154720 38154720 20 NBL relapse snv SMARCA4 missense S140T NM_001128849 30-PARHAM SMARCA4 MISSENSE SNP Somatic 10 0.353 SQHIGH 7 15 22 1 27 28 Cosmic_Gene T T A T T TARGET-30-PARHAM-02A-01D TARGET-30-PARHAM-10A-01D 6597 19 11096927 11096927 20 NBL diagnosis snv MIB2 missense T924M NM_080875 30-PARHYL MIB2|MMP23B INTRON,MISSENSE,UTR|TSS-UPSTREAM SNP Somatic 4 0.214 SQHIGH 6 15 21 0 28 28 C C T C C TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 142678|8510 1 1564809 1564809 24 NBL diagnosis snv CNTN4-AS1 EXON E19_exon NM_175607 30-PARHYL CNTN4 INTRON SNP Somatic -4 0.097 SQHIGH 9 27 36 1 32 33 Cosmic_Gene C C A C C TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 152330 3 3081486 3081486 20 NBL diagnosis snv LRRC3B missense S20R NM_052953 30-PARHYL LRRC3B MISSENSE SNP Somatic -1 0.130 SQHIGH 13 34 47 0 43 43 Cosmic_Gene A A C A A TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 116135 3 26751221 26751221 41 NBL diagnosis snv LARS2 missense R103C NM_015340 30-PARHYL LARS2 MISSENSE SNP Somatic -5 0.089 SQHIGH 8 22 30 0 28 28 Cosmic_Gene C C T C C TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 23395 3 45441809 45441809 25 NBL diagnosis snv GLYCTK-AS1 EXON E1_exon NM_145262 30-PARHYL GLYCTK INTRON SNP Somatic 19 0.969 SQHIGH 20 12 32 0 29 29 G G A G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 132158 3 52322829 52322829 74 NBL diagnosis snv WDR36 missense D318H NM_139281 30-PARHYL WDR36 MISSENSE SNP Somatic PFAM:PF00400:WD40 16 0.778 SQHIGH 10 18 28 0 27 27 Cosmic_Gene G G C G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 134430 5 110439929 110439929 33 NBL diagnosis snv MEGF10 missense A874S NM_032446 30-PARHYL MEGF10 MISSENSE SNP Somatic 6 0.276 SQHIGH 19 33 52 0 37 37 Cosmic_Gene G G T G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 84466 5 126781277 126781277 52 NBL diagnosis snv PCDHAC1 silent G887G NM_018898 30-PARHYL PCDHA4|PCDHA11|PCDHAC2|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHAC1|PCDHA7|PCDHA10|PCDHA13|PCDHA12|PCDHA3|PCDHA2 SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS|SYNONYMOUS SNP Somatic 8 0.334 SQHIGH 19 33 52 0 40 40 Cosmic_Gene C C A C C TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 56144|56138|56134|56147|9752|56143|56140|56142|56135|56141|56139|56136|56137|56145|56146 5 140389291 140389291 55 NBL diagnosis snv ABLIM3 missense L56P NM_014945 30-PARHYL ABLIM3 MISSENSE SNP Somatic -8 0.070 SQHIGH 10 24 34 1 37 38 Cosmic_Gene T T C T T TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 22885 5 148577797 148577797 28 NBL diagnosis snv USP45 missense T790I NM_001080481 30-PARHYL USP45 MISSENSE SNP Somatic 5 0.243 SQHIGH 8 12 20 0 19 19 Cosmic_Gene G G A G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 85015 6 99883668 99883668 27 NBL diagnosis snv STAG3 silent L1011L NM_012447 30-PARHYL STAG3|GATS SYNONYMOUS|INTRON SNP Somatic 5 0.243 SQHIGH 21 42 63 0 58 58 Cosmic_Gene C C A C C TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 10734|352954 7 99802709 99802709 68 NBL diagnosis snv TMEM72 missense R81S NM_001123376 30-PARHYL TMEM72 MISSENSE SNP Somatic 12 0.504 SQHIGH 13 14 27 0 36 36 G G T G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 643236 10 45429118 45429118 57 NBL diagnosis snv RCN1 missense D92E NM_002901 30-PARHYL RCN1 MISSENSE SNP Somatic 15 0.708 SQHIGH 12 21 33 0 44 44 Cosmic_Gene C C A C C TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 5954 11 32118711 32118711 50 NBL diagnosis snv WNT11 missense R81S NM_004626 30-PARHYL WNT11 MISSENSE SNP Somatic PFAM:PF00110:wnt -1 0.130 SQHIGH 8 16 24 0 43 43 Cosmic_Gene G G T G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 7481 11 75907605 75907605 39 NBL diagnosis snv FAR2 missense I167M NM_018099 30-PARHYL LOC100506606|FAR2 INTRON|MISSENSE SNP Somatic 1 0.159 SQHIGH 12 29 41 0 47 47 C C G C C TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 100506606|55711 12 29450089 29450089 44 NBL diagnosis snv RABEP2 missense L518P NM_024816 30-PARHYL RABEP2 MISSENSE SNP Somatic -8 0.070 SQHIGH 5 23 28 0 34 34 Cosmic_Gene A A G A A TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 79874 16 28916773 28916773 18 NBL diagnosis snv FAM57B missense A256G NM_031478 30-PARHYL FAM57B MISSENSE SNP Somatic PFAM:PF03798:TRAM_LAG1_CLN8 18 0.903 SQHIGH 14 13 27 0 28 28 G G C G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 83723 16 30036562 30036562 53 NBL diagnosis snv SPPL2C missense V505A NM_175882 30-PARHYL IMP5|LOC100128977 MISSENSE|INTRON SNP Somatic -1 0.130 SQHIGH 11 54 65 0 44 44 Cosmic_Gene T T C T T TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 162540|100128977 17 43923786 43923786 26 NBL diagnosis snv ZNF674 nonsense S426* NM_001039891 30-PARHYL ZNF674 NONSENSE SNP Somatic 14 0.628 SQHIGH 13 15 28 0 37 37 Cosmic_Gene G G T G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 641339 X 46359747 46359747 56 NBL diagnosis snv FTSJ1 silent T279T NM_012280 30-PARHYL FTSJ1 SYNONYMOUS SNP Somatic 8 0.334 SQHIGH 7 17 24 1 45 46 G G A G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 24140 X 48341062 48341062 28 NBL diagnosis snv STARD8 missense S690Y NM_001142503 30-PARHYL STARD8 MISSENSE SNP Somatic PFAM:PF00620:RhoGAP 14 0.628 SQHIGH 21 23 44 0 42 42 Cosmic_Gene C C A C C TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 9754 X 67940785 67940785 75 NBL diagnosis snv TBX22 silent T115T NM_001109878 30-PARHYL TBX22 SYNONYMOUS,UTR5 SNP Somatic 14 0.628 SQHIGH 10 19 29 0 54 54 Cosmic_Gene T T G T T TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 50945 X 79278728 79278728 51 NBL diagnosis snv TBC1D8B silent G296G NM_017752 30-PARHYL TBC1D8B SYNONYMOUS SNP Somatic PFAM:PF02893:GRAM 3 0.195 SQHIGH 8 16 24 0 26 26 Cosmic_Gene A A T A A TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 54885 X 106069320 106069320 29 NBL diagnosis snv GPR101 nonsense C211* NM_054021 30-PARHYL GPR101 NONSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.304 SQHIGH 10 16 26 0 42 42 Cosmic_Gene G G T G G TARGET-30-PARHYL-01A-01D TARGET-30-PARHYL-10A-01D 83550 X 136113201 136113201 47 NBL diagnosis snv KCNA10 missense K435N NM_005549 30-PARIKF KCNA10 MISSENSE SNP Somatic PFAM:PF00520:Ion_trans PFAM:PF07885:Ion_trans_2 18 0.880 SQHIGH 34 29 63 0 119 119 Cosmic_Gene C C A C C TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 3744 1 111060105 111060105 191 NBL diagnosis snv C4BPA silent R87R NM_000715 30-PARIKF C4BPA SYNONYMOUS SNP Somatic PFAM:PF00084:Sushi 12 0.455 SQHIGH 10 15 25 1 37 38 Cosmic_Gene A A G A A TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 722 1 207287563 207287563 37 NBL diagnosis snv XDH missense C48F NM_000379 30-PARIKF XDH MISSENSE SNP Somatic 8 0.284 SQHIGH 24 32 56 0 76 76 Cosmic_Gene C C A C C TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 7498 2 31625968 31625968 105 NBL diagnosis snv B3GNT7 missense R312C NM_145236 30-PARIKF B3GNT7 MISSENSE SNP Somatic PFAM:PF01762:Galactosyl_T 10 0.355 SQHIGH 10 12 22 0 37 37 C C T C C TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 93010 2 232263364 232263364 50 NBL diagnosis snv CSPG5 missense E282Q NM_006574 30-PARIKF CSPG5 MISSENSE SNP Somatic 12 0.455 SQHIGH 27 35 62 0 109 109 Cosmic_Gene C C G C C TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 10675 3 47618672 47618672 139 NBL diagnosis snv XXYLT1 missense A299D NM_152531 30-PARIKF XXYLT1 MISSENSE SNP Somatic PFAM:PF01644:Chitin_synth_1 8 0.284 SQHIGH 18 14 32 0 72 72 G G T G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 152002 3 194790730 194790730 111 NBL diagnosis snv METAP1 missense S101I NM_015143 30-PARIKF METAP1 MISSENSE SNP Somatic 0 0.131 SQHIGH 5 3 8 0 18 18 G G T G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 23173 4 99956573 99956573 31 NBL diagnosis snv GCM2 missense A417S NM_004752 30-PARIKF GCM2 MISSENSE SNP Somatic 9 0.316 SQHIGH 29 43 72 1 104 105 Cosmic_Gene C C A C C TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 9247 6 10874500 10874500 118 NBL diagnosis snv ZSCAN31 missense P104Q NM_030899 30-PARIKF ZNF323 INTRON,MISSENSE SNP Somatic 14 0.602 SQHIGH 8 20 28 0 60 60 Cosmic_Gene G G T G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 64288 6 28297150 28297150 43 NBL diagnosis snv SLC22A1 silent G553G NM_003057 30-PARIKF SLC22A1 UTR3,SYNONYMOUS SNP Somatic 12 0.455 SQHIGH 9 14 23 0 38 38 C C A C C TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 6580 6 160579608 160579608 43 NBL diagnosis snv EPHA1 silent G162G NM_005232 30-PARIKF EPHA1 SYNONYMOUS SNP Somatic 10 0.355 SQHIGH 11 24 35 0 75 76 Cosmic_Gene G G A G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 2041 7 143097093 143097093 60 NBL diagnosis snv KIAA0020 missense P552A NM_014878 30-PARIKF KIAA0020 MISSENSE SNP Somatic PFAM:PF08144:CPL 8 0.284 SQHIGH 10 26 36 0 47 47 Cosmic_Gene G G C G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 9933 9 2810413 2810413 40 NBL diagnosis snv OR1B1 silent P181P NM_001004450 30-PARIKF OR1B1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 15 0.672 SQHIGH 38 38 76 1 125 126 A A G A A TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 347169 9 125391272 125391272 180 NBL diagnosis snv GPR162 missense A63S NM_019858 30-PARIKF LEPREL2|GPR162 TSS-UPSTREAM|INTRON,MISSENSE SNP Somatic PFAM:PF00001:7tm_1 0 0.131 SQHIGH 4 17 21 0 43 43 Cosmic_Gene G G T G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 10536|27239 12 6933251 6933251 20 NBL diagnosis snv ANKS1B missense S274Y NM_152788 30-PARIKF ANKS1B MISSENSE SNP Somatic 10 0.355 SQHIGH 8 9 17 1 42 43 G G T G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 56899 12 100173675 100173675 41 NBL diagnosis snv ZC2HC1C missense R456K NM_024643 30-PARIKF ZC2HC1C UTR3,MISSENSE SNP Somatic 12 0.455 SQHIGH 20 25 45 1 83 84 Cosmic_Gene G G A G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 79696 14 75544263 75544263 94 NBL diagnosis snv PAPOLA missense G95E NM_032632 30-PARIKF PAPOLA MISSENSE SNP Somatic PFAM:PF04928:PAP_central -6 0.079 SQHIGH 3 10 13 0 23 23 G G A G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 10914 14 96991681 96991681 14 NBL diagnosis snv DYNC1H1 missense R3140L NM_001376 30-PARIKF DYNC1H1 MISSENSE SNP Somatic PFAM:PF00485:PRK 8 0.284 SQHIGH 29 26 55 0 69 69 Cosmic_Gene G G T G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 1778 14 102494429 102494429 127 NBL diagnosis snv AHNAK2 missense L2881V NM_138420 30-PARIKF AHNAK2 MISSENSE SNP Somatic -1 0.121 SQHIGH 21 24 45 0 82 82 Cosmic_Gene G G C G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 113146 14 105413147 105413147 111 NBL diagnosis snv HERC1 missense E4746G NM_003922 30-PARIKF HERC1 MISSENSE SNP Somatic 14 0.602 SQHIGH 31 28 59 1 82 83 Cosmic_Gene T T C T T TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 8925 15 63904613 63904613 131 NBL diagnosis snv EXOC3L2 missense R113L NM_138568 30-PARIKF EXOC3L2 MISSENSE SNP Somatic PFAM:PF06046:Sec6 7 0.255 SQHIGH 12 13 25 0 52 52 Cosmic_Gene C C A C C TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 90332 19 45730986 45730986 68 NBL diagnosis snv MYH14 silent L1780L NM_001077186 30-PARIKF MYH14 SYNONYMOUS SNP Somatic PFAM:PF01576:Myosin_tail_1 5 0.203 SQHIGH 13 11 24 1 58 59 Cosmic_Gene C C A C C TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 79784 19 50796914 50796914 72 NBL diagnosis snv RBCK1 silent S289S NM_006462 30-PARIKF RBCK1 SYNONYMOUS SNP Somatic 14 0.602 SQHIGH 17 12 29 0 43 43 G G A G G TARGET-30-PARIKF-01A-01D TARGET-30-PARIKF-10A-01D 10616 20 402846 402846 84 NBL diagnosis snv TTN missense T27702N NM_133378 30-PARIRD TTN|LOC100506866 MISSENSE|INTRON SNP Somatic 4 0.246 SQHIGH 21 42 63 0 54 54 Cosmic_Gene G G T G G TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 7273|100506866 2 179416818 179416818 Somatic Illumina 65 15662 6925 22592 32984 2 32993 NBL diagnosis snv SPHKAP missense P1443L NM_001142644 30-PARIRD SPHKAP MISSENSE SNP Somatic -4 0.100 SQHIGH 8 35 43 0 46 46 Cosmic_Gene G G A G G TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 80309 2 228881242 228881242 Somatic Illumina 27 68720 29572 98320 160287 26 160363 NBL diagnosis snv SRA1 missense A213E NM_001035235 30-PARIRD SRA1 MISSENSE SNP Somatic 7 0.358 SQHIGH 13 23 36 0 24 24 G G T G G TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 10011 5 139930358 139930358 Somatic Illumina 33 92022 52477 144608 248145 31 248363 NBL diagnosis snv ZNF679 missense Y189H NM_153363 30-PARIRD ZNF679 MISSENSE SNP Somatic 0 0.158 SQHIGH 17 41 58 2 39 41 Cosmic_Gene T T C T T TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 168417 7 63726576 63726576 BadAssay Illumina 28 0 0 0 0 0 0 NBL diagnosis snv GOT1L1 missense H343D NM_152413 30-PARIRD GOT1L1 MISSENSE SNP Somatic 4 0.246 SQHIGH 8 30 38 0 46 46 Cosmic_Gene G G C G G TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 137362 8 37792636 37792636 Somatic Illumina 30 29075 3119 32198 51390 0 51403 NBL diagnosis snv SEC14L1P1 EXON E7_exon NM_139178 30-PARIRD ALKBH3|LOC729799 INTRON|UTR SNP Somatic 4 0.246 SQHIGH 12 24 36 1 30 31 G G T G G TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 221120|729799 11 43921152 43921152 28 NBL diagnosis snv ATG2A splice A883_E19splice NM_015104 30-PARIRD MIR6750 ACCEPTOR SNP Somatic 6 0.323 SQHIGH 8 16 24 0 21 21 Cosmic_Gene G G T G G TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 23130 11 64674914 64674914 Somatic Illumina 25 6028 2863 8893 15854 2 15860 NBL diagnosis snv DNM1L nonsense S526* NM_012062 30-PARIRD DNM1L NONSENSE SNP Somatic 11 0.546 SQHIGH 10 23 33 0 33 33 Cosmic_Gene C C A C C TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 10059 12 32890076 32890076 Somatic Illumina 34 66804 9565 76380 132151 59 132238 NBL diagnosis snv HSP90B1 missense V433F NM_003299 30-PARIRD HSP90B1 MISSENSE SNP Somatic -10 0.056 SQHIGH 5 28 33 0 28 28 Cosmic_Gene G G T G G TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 7184 12 104335473 104335473 14 NBL diagnosis snv TLN2 missense R76W NM_015059 30-PARIRD MGC15885|TLN2 TSS-UPSTREAM|MISSENSE SNP Somatic 10 0.489 SQHIGH 16 30 46 1 51 52 Cosmic_Gene C C T C C TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 197003|83660 15 62942372 62942372 Somatic Illumina 49 41483 19408 60900 115181 127 115329 NBL diagnosis snv TMPRSS3 silent R109R NM_024022 30-PARIRD TMPRSS3 SYNONYMOUS,UTR SNP Somatic PFAM:PF00530:SRCR 5 0.279 SQHIGH 24 34 58 0 39 39 Cosmic_Gene G G T G G TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 64699 21 43808633 43808633 Somatic Illumina 64 18843 9714 28581 45247 17 45285 NBL diagnosis snv IL17RA missense H747Q NM_014339 30-PARIRD IL17RA MISSENSE SNP Somatic 5 0.279 SQHIGH 11 11 22 0 15 15 Cosmic_Gene C C A C C TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 23765 22 17590350 17590350 BadAssay Illumina 31 278 11 289 2458 0 2458 NBL diagnosis snv ELFN2 silent S744S NM_052906 30-PARIRD ELFN2 SYNONYMOUS SNP Somatic 2 0.198 SQHIGH 7 10 17 0 16 16 Cosmic_Gene C C T C C TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 114794 22 37769343 37769343 23 NBL diagnosis snv GABRQ missense L598I NM_018558 30-PARIRD GABRQ MISSENSE SNP Somatic 19 0.977 SQHIGH 19 8 27 0 28 28 Cosmic_Gene C A C TARGET-30-PARIRD-01A-01D TARGET-30-PARIRD-10A-01D 55879 X 151821637 151821637 Somatic Illumina 81 20302 41312 61654 111668 9 111745 NBL diagnosis snv MAST4 silent C37C NM_015183 30-PARJVP MAST4 SYNONYMOUS SNP Somatic 9 0.370 SQHIGH 9 21 30 0 24 24 Cosmic_Gene C C T C C TARGET-30-PARJVP-01A-01D TARGET-30-PARJVP-10A-01D 375449 5 66350235 66350235 26 NBL diagnosis snv MUC17 missense P1849L NM_001040105 30-PARJVP MUC17 MISSENSE SNP dbsnp.134:rs143391199 Somatic -7 0.079 SQHIGH 6 9 15 0 9 9 Cosmic_Gene C C T C C TARGET-30-PARJVP-01A-01D TARGET-30-PARJVP-10A-01D 140453 7 100680243 100680243 14 NBL diagnosis snv LOC254896 EXON E1_exon NM_003841 30-PARJVP TNFRSF10C INTRON SNP dbsnp.134:rs144215650 Somatic -2 0.125 SQHIGH 9 14 24 0 10 12 G G T G G TARGET-30-PARJVP-01A-01D TARGET-30-PARJVP-10A-01D 8794 8 22960711 22960711 17 NBL diagnosis snv ELTD1 silent F355F NM_022159 30-PARJXH ELTD1 SYNONYMOUS SNP Somatic 7 0.236 SQHIGH 8 26 34 0 62 62 Cosmic_Gene A A G A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 64123 1 79392589 79392589 39 NBL diagnosis snv LRIF1 nonsense E694* NM_018372 30-PARJXH LOC100506293|LRIF1 INTRON|NONSENSE SNP Somatic 20 0.981 SQHIGH 17 17 34 0 61 61 Cosmic_Gene C C A C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 100506293|55791 1 111490811 111490811 90 NBL diagnosis snv PROM2 splice E372_E10splice NM_001165978 30-PARJXH PROM2 ACCEPTOR SNP Somatic 10 0.317 SQHIGH 7 21 28 0 34 34 Cosmic_Gene C C A C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 150696 2 95944730 95944730 26 NBL diagnosis snv UGGT1 missense T820A NM_020120 30-PARJXH UGGT1 MISSENSE,UTR SNP Somatic -1 0.082 SQHIGH 5 35 40 0 46 46 Cosmic_Gene A A G A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 56886 2 128917190 128917190 17 NBL diagnosis snv TTN silent A24996A NM_133378 30-PARJXH TTN|LOC100506866 SYNONYMOUS|INTRON SNP Somatic 3 0.134 SQHIGH 28 36 64 0 36 36 Cosmic_Gene C C T C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 7273|100506866 2 179428167 179428167 67 NBL diagnosis snv PPP1R1C splice L61_E4splice NM_001080545 30-PARJXH PPP1R1C DISRUPT SNP Somatic 12 0.399 SQHIGH 22 28 50 0 54 54 G G T G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 151242 2 182928457 182928457 83 NBL diagnosis snv MOGAT1 missense L221V NM_058165 30-PARJXH MOGAT1 MISSENSE SNP Somatic 15 0.626 SQHIGH 25 28 53 0 56 56 Cosmic_Gene C C G C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 116255 2 223559815 223559815 95 NBL diagnosis snv BSN missense A1083D NM_003458 30-PARJXH BSN MISSENSE SNP Somatic 9 0.287 SQHIGH 15 3 18 0 20 20 Cosmic_Gene C C A C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 8927 3 49690237 49690237 73 NBL diagnosis snv MYLK-AS2 EXON E19_exon NM_053025 30-PARJXH MYLK INTRON SNP Somatic 12 0.399 SQHIGH 16 27 43 0 31 31 Cosmic_Gene C C T C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 4638 3 123410559 123410559 44 NBL diagnosis snv PODXL2 silent F120F NM_015720 30-PARJXH PODXL2 SYNONYMOUS SNP Somatic 16 0.697 SQHIGH 20 23 43 1 58 59 Cosmic_Gene T T C T T TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 50512 3 127379231 127379231 78 NBL diagnosis snv DAB2 splice G502_E12splice NM_001343 30-PARJXH DAB2 ACCEPTOR SNP Somatic 12 0.399 SQHIGH 28 22 50 1 46 47 Cosmic_Gene G G T G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 1601 5 39377387 39377387 90 NBL diagnosis snv SNCAIP silent L799L NM_005460 30-PARJXH SNCAIP SYNONYMOUS SNP Somatic 17 0.833 SQHIGH 30 33 63 0 60 60 Cosmic_Gene C C A C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 9627 5 121786939 121786939 107 NBL diagnosis snv JADE2 missense R370C NM_015288 30-PARJXH JADE2 MISSENSE SNP dbsnp.134:rs137957798 Somatic 13 0.450 SQHIGH 15 15 30 0 27 27 C C T C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 23338 5 133901944 133901944 52 NBL diagnosis snv CTD-2270F17.1 EXON E1_exon NM_004137 30-PARJXH KCNMB1|KCNIP1 UTR5|INTRON SNP Somatic -8 0.046 SQHIGH 8 89 97 0 47 47 Cosmic_Gene G G A G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 3779|30820 5 169816500 169816500 14 NBL diagnosis snv OR2V2 missense I18F NM_206880 30-PARJXH OR2V2 MISSENSE SNP Somatic 6 0.200 SQHIGH 6 33 39 0 20 20 Cosmic_Gene A A T A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 285659 5 180581994 180581994 11 NBL diagnosis snv SIM1 silent V55V NM_005068 30-PARJXH SIM1 SYNONYMOUS SNP Somatic 15 0.626 SQHIGH 27 23 50 0 57 57 Cosmic_Gene C C T C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 6492 6 100911180 100911180 112 NBL diagnosis snv BVES-AS1 EXON E1_exon NM_022361 30-PARJXH C6orf112|POPDC3 UTR|INTRON SNP Somatic 14 0.519 SQHIGH 11 7 18 0 32 32 Cosmic_Gene G G T G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 154442|64208 6 105617100 105617100 61 NBL diagnosis snv LTV1 missense D187N NM_032860 30-PARJXH LTV1 MISSENSE SNP Somatic PFAM:PF04180:LTV 9 0.287 SQHIGH 27 19 46 1 48 49 Cosmic_Gene G G A G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 84946 6 144178908 144178908 97 NBL diagnosis snv PCLO missense G2725A NM_033026 30-PARJXH PCLO MISSENSE SNP Somatic 3 0.134 SQHIGH 31 59 90 0 45 45 Cosmic_Gene C C G C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 27445 7 82582095 82582095 64 NBL diagnosis snv GIMAP8 missense A303S NM_175571 30-PARJXH GIMAP8 MISSENSE SNP Somatic 6 0.200 SQHIGH 22 70 92 1 75 76 Cosmic_Gene G G T G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 155038 7 150171324 150171324 52 NBL diagnosis snv IDI2-AS1 EXON E2_exon NM_004508 30-PARJXH IDI2-AS1|IDI1 UTR|INTRON SNP Somatic -7 0.050 SQHIGH 3 23 26 0 70 70 C C A C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 55853|3422 10 1089521 1089521 17 NBL diagnosis snv OR5AR1 missense R80G NM_001004730 30-PARJXH OR5AR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 4 0.151 SQHIGH 24 52 76 0 52 52 A A G A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 219493 11 56431399 56431399 62 NBL diagnosis snv PRG2 missense K85R NM_002728 30-PARJXH PRG2 MISSENSE SNP Somatic 3 0.134 SQHIGH 31 53 84 0 37 37 Cosmic_Gene T T C T T TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 5553 11 57156595 57156595 58 NBL diagnosis snv XPO4 missense A818G NM_022459 30-PARJXH XPO4 MISSENSE SNP Somatic -2 0.074 SQHIGH 4 19 23 0 46 46 Cosmic_Gene G G C G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 64328 13 21371066 21371066 20 NBL diagnosis snv OR4N5 silent F113F NM_001004724 30-PARJXH OR4N5 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 9 0.287 SQHIGH 11 30 41 0 83 83 Cosmic_Gene C C T C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 390437 14 20612233 20612233 57 NBL diagnosis snv KIAA0586 missense N387Y NM_014749 30-PARJXH KIAA0586 MISSENSE SNP Somatic 2 0.119 SQHIGH 7 11 18 0 48 48 Cosmic_Gene A A T A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 9786 14 58920097 58920097 44 NBL diagnosis snv DPF3 missense T23K NM_001280544 30-PARJXH DPF3 INTRON SNP Somatic 11 0.354 SQHIGH 19 23 42 0 20 20 Cosmic_Gene G G T G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 8110 14 73358984 73358984 40 NBL diagnosis snv ATP10A missense R754W NM_024490 30-PARJXH ATP10A MISSENSE SNP Somatic 14 0.519 SQHIGH 18 30 48 0 37 37 Cosmic_Gene G G A G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 57194 15 25958905 25958905 52 NBL diagnosis snv PLCB2 missense T329S NM_004573 30-PARJXH PLCB2 MISSENSE SNP Somatic 12 0.399 SQHIGH 29 25 54 0 48 48 Cosmic_Gene G G C G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 5330 15 40590774 40590774 102 NBL diagnosis snv GRAMD2 missense G195E NM_001012642 30-PARJXH GRAMD2 MISSENSE SNP Somatic 19 0.935 SQHIGH 20 15 35 0 30 30 C C T C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 196996 15 72457711 72457711 69 NBL diagnosis snv FAM117A silent T165T NM_030802 30-PARJXH FAM117A SYNONYMOUS SNP Somatic 8 0.261 SQHIGH 19 61 80 0 27 27 Cosmic_Gene C C T C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 81558 17 47797766 47797766 27 NBL diagnosis snv CTAGE1 nonsense L642* NM_172241 30-PARJXH CTAGE1 NONSENSE SNP Somatic -1 0.082 SQHIGH 24 35 59 0 56 56 Cosmic_Gene A A T A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 64693 18 19995850 19995850 82 NBL diagnosis snv ILF3 missense K348R NM_012218 30-PARJXH ILF3 MISSENSE SNP Somatic 11 0.354 SQHIGH 27 30 57 0 36 36 Cosmic_Gene A A G A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 3609 19 10791780 10791780 71 NBL diagnosis snv LSR missense H21Q NM_015925 30-PARJXH LSR MISSENSE SNP Somatic 10 0.317 SQHIGH 19 26 45 0 35 35 C C A C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 51599 19 35739844 35739844 57 NBL diagnosis snv PSG4 missense W273L NM_002780 30-PARJXH PSG4 INTRON,MISSENSE SNP Somatic PFAM:PF00047:ig 13 0.450 SQHIGH 33 0 33 0 28 28 Cosmic_Gene C A A C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 5672 19 43699317 43699317 173 NBL diagnosis snv BIRC8 missense Y29N NM_033341 30-PARJXH BIRC8 MISSENSE SNP Somatic 10 0.317 SQHIGH 27 18 45 0 55 55 Cosmic_Gene A A T A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 112401 19 53793543 53793543 120 NBL diagnosis snv LILRA2 missense P427T NM_001290271 30-PARJXH LILRA2 INTRON SNP Somatic 14 0.519 SQHIGH 18 31 49 1 54 55 Cosmic_Gene C C A C C TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 11027 19 55088955 55088955 57 NBL diagnosis snv CPXM1 missense M670K NM_019609 30-PARJXH CPXM1 MISSENSE SNP Somatic PFAM:PF00246:Peptidase_M14 9 0.287 SQHIGH 23 36 59 0 21 21 Cosmic_Gene A A T A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 56265 20 2775032 2775032 37 NBL diagnosis snv ELTD1 silent F355F NM_022159 30-PARKGJ ELTD1 SYNONYMOUS SNP Somatic 1 0.137 SQHIGH 7 13 20 0 29 29 Cosmic_Gene A A G A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 64123 1 79392589 79392589 30 NBL diagnosis snv LRIF1 nonsense E694* NM_018372 30-PARKGJ LOC100506293|LRIF1 INTRON|NONSENSE SNP Somatic 19 0.942 SQHIGH 19 18 37 0 51 51 Cosmic_Gene C C A C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 100506293|55791 1 111490811 111490811 87 NBL diagnosis snv PAQR6 missense R326G NM_024897 30-PARKGJ PAQR6 UTR3,MISSENSE SNP Somatic -8 0.064 SQHIGH 9 36 45 1 30 31 T T C T T TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 79957 1 156213732 156213732 15 NBL diagnosis snv PROM2 splice E372_E10splice NM_001165978 30-PARKGJ PROM2 ACCEPTOR SNP Somatic 14 0.581 SQHIGH 11 21 32 0 25 25 Cosmic_Gene C C A C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 150696 2 95944730 95944730 32 NBL diagnosis snv TTN silent A24996A NM_133378 30-PARKGJ TTN|LOC100506866 SYNONYMOUS|INTRON SNP Somatic 15 0.662 SQHIGH 31 24 55 1 26 27 Cosmic_Gene C C T C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 7273|100506866 2 179428167 179428167 59 NBL diagnosis snv PPP1R1C splice L61_E4splice NM_001080545 30-PARKGJ PPP1R1C DISRUPT SNP Somatic 0 0.123 SQHIGH 9 12 21 0 37 37 G G T G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 151242 2 182928457 182928457 46 NBL diagnosis snv MOGAT1 missense L221V NM_058165 30-PARKGJ MOGAT1 MISSENSE SNP Somatic 2 0.153 SQHIGH 22 23 45 0 31 31 Cosmic_Gene C C G C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 116255 2 223559815 223559815 62 NBL diagnosis snv CHL1 silent V881V NM_006614 30-PARKGJ CHL1 SYNONYMOUS SNP Somatic 17 0.839 SQHIGH 21 1 22 0 51 51 Cosmic_Gene G T T G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 10752 3 432694 432694 167 NBL diagnosis snv EPHA6 missense S250G NM_001080448 30-PARKGJ EPHA6 MISSENSE SNP Somatic 3 0.170 SQHIGH 7 20 27 0 40 40 Cosmic_Gene A A G A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 285220 3 96706471 96706471 30 NBL diagnosis snv MYLK-AS2 EXON E19_exon NM_053025 30-PARKGJ MYLK INTRON SNP Somatic 8 0.309 SQHIGH 21 30 51 0 34 34 Cosmic_Gene C C T C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 4638 3 123410559 123410559 56 NBL diagnosis snv PODXL2 silent F120F NM_015720 30-PARKGJ PODXL2 SYNONYMOUS SNP Somatic 6 0.242 SQHIGH 14 21 35 1 47 48 Cosmic_Gene T T C T T TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 50512 3 127379231 127379231 50 NBL diagnosis snv DAB2 splice G502_E12splice NM_001343 30-PARKGJ DAB2 ACCEPTOR SNP Somatic 8 0.309 SQHIGH 14 26 40 0 44 44 Cosmic_Gene G G T G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 1601 5 39377387 39377387 51 NBL diagnosis snv SNCAIP silent L799L NM_005460 30-PARKGJ SNCAIP SYNONYMOUS SNP Somatic 11 0.411 SQHIGH 15 27 42 0 50 50 Cosmic_Gene C C A C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 9627 5 121786939 121786939 58 NBL diagnosis snv JADE2 missense R370C NM_015288 30-PARKGJ JADE2 MISSENSE SNP dbsnp.134:rs137957798 Somatic 6 0.242 SQHIGH 16 19 35 0 22 22 C C T C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 23338 5 133901944 133901944 42 NBL diagnosis snv SIM1 silent V55V NM_005068 30-PARKGJ SIM1 SYNONYMOUS SNP Somatic 10 0.373 SQHIGH 17 26 43 0 44 44 Cosmic_Gene C C T C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 6492 6 100911180 100911180 61 NBL diagnosis snv LTV1 missense D187N NM_032860 30-PARKGJ LTV1 MISSENSE SNP Somatic PFAM:PF04180:LTV 14 0.581 SQHIGH 19 22 41 0 46 46 Cosmic_Gene G G A G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 84946 6 144178908 144178908 75 NBL diagnosis snv PCLO missense G2725A NM_033026 30-PARKGJ PCLO MISSENSE SNP Somatic 4 0.189 SQHIGH 12 40 52 0 47 47 Cosmic_Gene C C G C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 27445 7 82582095 82582095 37 NBL diagnosis snv LUC7L2 silent G217G NM_016019 30-PARKGJ LUC7L2 SYNONYMOUS SNP Somatic PFAM:PF03194:LUC7 -6 0.075 SQHIGH 12 57 69 0 29 29 A A G A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 51631 7 139092060 139092060 20 NBL diagnosis snv GIMAP8 missense A303S NM_175571 30-PARKGJ GIMAP8 MISSENSE SNP Somatic 7 0.281 SQHIGH 20 59 79 0 50 50 Cosmic_Gene G G T G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 155038 7 150171324 150171324 47 NBL diagnosis snv SFTPC missense A172G NM_003018 30-PARKGJ SFTPC|BMP1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF04089:BRICHOS -7 0.069 SQHIGH 9 33 42 0 20 20 Cosmic_Gene C C G C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 6440|649 8 22021475 22021475 17 NBL diagnosis snv OR5AR1 missense R80G NM_001004730 30-PARKGJ OR5AR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.211 SQHIGH 18 36 54 0 43 43 A A G A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 219493 11 56431399 56431399 52 NBL diagnosis snv PRG2 missense K85R NM_002728 30-PARKGJ PRG2 MISSENSE SNP Somatic 9 0.338 SQHIGH 31 46 77 0 35 35 Cosmic_Gene T T C T T TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 5553 11 57156595 57156595 61 NBL diagnosis snv CCER1 silent V314V NM_152638 30-PARKGJ CCER1 SYNONYMOUS SNP Somatic -10 0.056 SQHIGH 5 45 50 0 55 55 Cosmic_Gene G G A G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 196477 12 91347578 91347578 17 NBL diagnosis snv OR4N5 silent F113F NM_001004724 30-PARKGJ OR4N5 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 12 0.459 SQHIGH 21 25 46 2 78 80 Cosmic_Gene C C T C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 390437 14 20612233 20612233 86 NBL diagnosis snv KIAA0586 missense N387Y NM_014749 30-PARKGJ KIAA0586 MISSENSE SNP Somatic 2 0.153 SQHIGH 5 4 9 0 25 25 Cosmic_Gene A A T A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 9786 14 58920097 58920097 33 NBL diagnosis snv DPF3 missense T23K NM_001280544 30-PARKGJ DPF3 INTRON SNP Somatic -2 0.102 SQHIGH 13 23 36 0 16 16 Cosmic_Gene G G T G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 8110 14 73358984 73358984 24 NBL diagnosis snv ATP10A missense R754W NM_024490 30-PARKGJ ATP10A MISSENSE SNP Somatic 10 0.373 SQHIGH 14 28 42 1 40 41 Cosmic_Gene G G A G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 57194 15 25958905 25958905 37 NBL diagnosis snv PLCB2 missense T329S NM_004573 30-PARKGJ PLCB2 MISSENSE SNP Somatic 17 0.839 SQHIGH 23 23 46 0 40 40 Cosmic_Gene G G C G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 5330 15 40590774 40590774 78 NBL diagnosis snv GRAMD2 missense G195E NM_001012642 30-PARKGJ GRAMD2 MISSENSE SNP Somatic 1 0.137 SQHIGH 10 15 25 1 23 24 C C T C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 196996 15 72457711 72457711 25 NBL diagnosis snv FXR2 silent R327R NM_004860 30-PARKGJ FXR2|SOX15 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -6 0.075 SQHIGH 10 42 52 0 38 38 Cosmic_Gene T T C T T TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 9513|6665 17 7497595 7497595 26 NBL diagnosis snv CTAGE1 nonsense L642* NM_172241 30-PARKGJ CTAGE1 NONSENSE SNP Somatic 7 0.281 SQHIGH 26 35 61 0 63 63 Cosmic_Gene A A T A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 64693 18 19995850 19995850 95 NBL diagnosis snv ILF3 missense K348R NM_012218 30-PARKGJ ILF3 MISSENSE SNP Somatic 17 0.839 SQHIGH 32 30 62 0 39 39 Cosmic_Gene A A G A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 3609 19 10791780 10791780 87 NBL diagnosis snv ZNF700 silent T383T NM_144566 30-PARKGJ ZNF700 SYNONYMOUS SNP Somatic -9 0.060 SQHIGH 10 42 52 1 56 57 T T C T T TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 90592 19 12059988 12059988 26 NBL diagnosis snv LSR missense H21Q NM_015925 30-PARKGJ LSR MISSENSE SNP Somatic 5 0.211 SQHIGH 21 19 40 0 28 28 C C A C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 51599 19 35739844 35739844 62 NBL diagnosis snv BIRC8 missense Y29N NM_033341 30-PARKGJ BIRC8 MISSENSE SNP Somatic 8 0.309 SQHIGH 19 26 46 0 47 47 Cosmic_Gene A A T A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 112401 19 53793543 53793543 70 NBL diagnosis snv LILRA2 missense P427T NM_001290271 30-PARKGJ LILRA2 INTRON SNP Somatic 9 0.338 SQHIGH 13 21 34 0 36 36 Cosmic_Gene C C A C C TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 11027 19 55088955 55088955 47 NBL diagnosis snv CPXM1 missense M670K NM_019609 30-PARKGJ CPXM1 MISSENSE SNP Somatic PFAM:PF00246:Peptidase_M14 6 0.242 SQHIGH 20 37 57 0 30 30 Cosmic_Gene A A T A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 56265 20 2775032 2775032 43 NBL diagnosis snv CLCNKA silent E390E NM_004070 30-PARMFA CLCNKA SYNONYMOUS SNP Somatic PFAM:PF00654:Voltage_CLC 13 0.524 SQHIGH 18 23 41 1 50 51 Cosmic_Gene A A G A A TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 1187 1 16355737 16355737 63 NBL diagnosis snv PADI4 nonsense W466* NM_012387 30-PARMFA PADI4 NONSENSE SNP Somatic PFAM:PF03068:PAD 11 0.418 SQHIGH 16 25 41 0 51 51 Cosmic_Gene G G A G G TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 23569 1 17682565 17682565 65 NBL diagnosis snv AGO4 silent P614P NM_017629 30-PARMFA AGO4 SYNONYMOUS SNP Somatic 13 0.524 SQHIGH 15 17 32 0 52 52 Cosmic_Gene C C A C C TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 192670 1 36306883 36306883 74 NBL diagnosis snv TNR missense C1138Y NM_003285 30-PARMFA TNR MISSENSE SNP Somatic 8 0.303 SQHIGH 23 57 80 0 58 58 Cosmic_Gene C C T C C TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 7143 1 175306785 175306785 61 NBL diagnosis snv OR2M5 missense S242F NM_001004690 30-PARMFA OR2M5 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 19 0.954 SQHIGH 14 19 33 1 63 64 Cosmic_Gene C C T C C TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 127059 1 248309174 248309174 65 NBL diagnosis snv ANKRD36 splice_region A1031_E52splice_region NM_001164315 30-PARMFA ANKRD36 ACCEPTOR SNP Somatic -10 0.056 SQHIGH 8 30 38 0 45 45 T T G T T TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 375248 2 97871795 97871795 29 NBL diagnosis snv IL5RA splice_region E392_E12splice_region NM_000564 30-PARMFA IL5RA INTRON SNP Somatic 15 0.697 SQHIGH 14 11 25 0 50 50 Cosmic_Gene A A C A A TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 3568 3 3116458 3116458 81 NBL diagnosis snv FBXO40 missense A4S NM_016298 30-PARMFA FBXO40 MISSENSE SNP Somatic 2 0.160 SQHIGH 17 19 36 2 52 54 Cosmic_Gene G G T G G TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 51725 3 121340286 121340286 60 NBL diagnosis snv GRPEL1 missense R204C NM_025196 30-PARMFA GRPEL1 MISSENSE SNP Somatic -39 0.000 4 20 24 1 56 57 G G A G G TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 80273 4 7062633 7062633 16 NBL diagnosis snv MARCH1 missense W171C NM_001166373 30-PARMFA MARCH1 MISSENSE SNP Somatic 16 0.759 SQHIGH 9 27 36 1 36 37 Cosmic_Gene C C G C C TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 55016 4 164466806 164466806 22 NBL diagnosis snv CMYA5 missense E1952A NM_153610 30-PARMFA CMYA5 MISSENSE SNP Somatic -1 0.118 SQHIGH 4 25 29 0 36 36 Cosmic_Gene A A C A A TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 202333 5 79030443 79030443 15 NBL diagnosis snv PCDHA10 missense V397G NM_018901 30-PARMFA PCDHA4|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA10|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON SNP Somatic 13 0.524 SQHIGH 16 32 48 0 59 59 Cosmic_Gene T T G T T TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 56144|56147|9752|56143|56140|56142|56141|56139|56145|56146 5 140236823 140236823 63 NBL diagnosis snv SLC22A3 silent V198V NM_021977 30-PARMFA SLC22A3 SYNONYMOUS SNP Somatic 0 0.130 SQHIGH 5 15 20 0 24 24 Cosmic_Gene G G A G G TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 6581 6 160828133 160828133 18 NBL diagnosis snv KIAA1549 missense P1005T NM_020910 30-PARMFA KIAA1549 MISSENSE SNP Somatic 5 0.214 SQHIGH 8 24 32 0 17 17 Cosmic_Gene G G T G G TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 57670 7 138596024 138596024 16 NBL diagnosis snv CTTN splice_region D301_E12splice_region NM_005231 30-PARMFA CTTN ACCEPTOR SNP Somatic 6 0.245 SQHIGH 26 48 74 0 90 90 Cosmic_Gene C C T C C TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 2017 11 70269036 70269036 103 NBL diagnosis snv STAT6 missense P309L NM_003153 30-PARMFA STAT6 MISSENSE,UTR SNP Somatic PFAM:PF02864:STAT_bind -1 0.118 SQHIGH 15 52 67 1 86 87 Cosmic_Gene G G A G G TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 6778 12 57499009 57499009 48 NBL diagnosis snv DNAH10 silent R2796R NM_207437 30-PARMFA DNAH10 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 3 0.176 SQHIGH 10 14 24 0 22 22 Cosmic_Gene C C T C C TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 196385 12 124366279 124366279 33 NBL diagnosis snv NIN missense L1347V NM_182944 30-PARMFA NIN INTRON,MISSENSE SNP Somatic 4 0.194 SQHIGH 4 25 29 0 39 39 Cosmic_Gene A A C A A TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 51199 14 51223709 51223709 15 NBL diagnosis snv VANGL1 missense A229T NM_138959 30-PARMTT VANGL1 MISSENSE SNP dbsnp.134:rs143956994 Somatic PFAM:PF06638:Strabismus -4 0.087 SQHIGH 12 61 73 0 84 84 Cosmic_Gene G G A G G TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 81839 1 116206762 116206762 42 NBL diagnosis snv MERTK missense L814I NM_006343 30-PARMTT MERTK MISSENSE SNP Somatic 15 0.699 SQHIGH 38 25 63 0 98 98 Cosmic_Gene C C A C C TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 10461 2 112779925 112779925 197 NBL diagnosis snv RGS12 missense D1388V NM_198229 30-PARMTT RGS12|HGFAC MISSENSE|TSS-UPSTREAM SNP Somatic 0 0.126 SQHIGH 10 37 47 0 72 72 Cosmic_Gene A A T A A TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 6002|3083 4 3441230 3441230 43 NBL diagnosis snv ANKRD31 missense H927Y NM_001164443 30-PARMTT ANKRD31 MISSENSE SNP Somatic 4 0.190 SQHIGH 13 27 40 0 26 26 G G A G G TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 256006 5 74442457 74442457 32 NBL diagnosis snv SERINC5 silent A99A NM_178276 30-PARMTT SERINC5 SYNONYMOUS SNP Somatic PFAM:PF03348:Serinc 2 0.154 SQHIGH 10 32 42 0 60 60 Cosmic_Gene A A G A A TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 256987 5 79473785 79473785 42 NBL diagnosis snv RELN silent L364L NM_005045 30-PARMTT RELN SYNONYMOUS SNP Somatic 2 0.154 SQHIGH 7 18 25 0 21 21 Cosmic_Gene G G C G G TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 5649 7 103338351 103338351 20 NBL diagnosis snv CPNE6 missense S170I NM_006032 30-PARMTT CPNE6 MISSENSE SNP Somatic 7 0.275 SQHIGH 18 61 79 0 81 81 Cosmic_Gene G G T G G TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 9362 14 24543750 24543750 60 NBL diagnosis snv CDAN1 missense R863C NM_138477 30-PARMTT CDAN1 MISSENSE SNP Somatic 17 0.861 SQHIGH 25 24 49 0 60 60 Cosmic_Gene G G A G G TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 146059 15 43021279 43021279 106 NBL diagnosis snv GDPD3 missense R171L NM_024307 30-PARMTT GDPD3|LOC100271831 MISSENSE|INTRON SNP Somatic PFAM:PF03009:GDPD 6 0.245 SQHIGH 17 37 54 0 61 61 C C A C C TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 79153|100271831 16 30123514 30123514 63 NBL diagnosis snv ZNF689 missense E426K NM_138447 30-PARMTT ZNF689 MISSENSE SNP Somatic -9 0.058 SQHIGH 7 43 50 0 53 53 C C T C C TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 115509 16 30615812 30615812 23 NBL diagnosis snv ETV4 missense P171L NM_001986 30-PARMTT ETV4 MISSENSE SNP Somatic PFAM:PF04621:ETS_PEA3_N 8 0.304 SQHIGH 40 44 84 0 81 81 Cosmic_Gene G G A G G TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 2118 17 41610588 41610588 144 NBL diagnosis snv MC2R missense H238Q NM_000529 30-PARMTT MC2R MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 2 0.154 SQHIGH 30 56 86 0 84 84 Cosmic_Gene A A C A A TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 4158 18 13884804 13884804 102 NBL diagnosis snv PIGU missense V344M NM_080476 30-PARMTT PIGU MISSENSE SNP dbsnp.134:rs145381370 Somatic PFAM:PF06728:PIG-U -5 0.081 SQHIGH 9 58 67 1 79 80 C C T C C TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 128869 20 33169373 33169373 24 NBL diagnosis snv IQSEC2 splice K766_E6splice NM_001111125 30-PARMTT IQSEC2 ACCEPTOR SNP Somatic -8 0.063 SQHIGH 13 86 99 0 110 110 Cosmic_Gene G G T G G TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 23096 X 53278067 53278067 44 NBL diagnosis snv TAF1 missense Q126H NM_004606 30-PARMTT TAF1 MISSENSE SNP Somatic 3 0.170 SQHIGH 9 30 39 0 59 59 Cosmic_Gene G G T G G TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 6872 X 70587986 70587986 39 NBL diagnosis snv AFF2 silent D41D NM_002025 30-PARMTT AFF2 SYNONYMOUS SNP Somatic PFAM:PF05110:AF-4 19 0.955 SQHIGH 13 19 32 0 46 46 Cosmic_Gene C C T C C TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 2334 X 147733595 147733595 58 NBL diagnosis mnv OR4A16 missense V11_L12>VI NM_001005274 30-PARMTT OR4A16 MISSENSE Sub Somatic -9 0.301 SQHIGH 10 40 50 0 81 81 Cosmic_Gene CC CC AA CC CC TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 81327 11 55110709 55110710 44 NBL diagnosis mnv P2RY10 missense K145_R146>NC NM_014499 30-PARMTT P2RY10 MISSENSE Sub Somatic PFAM:PF00001:7tm_1 -3 0.465 SQHIGH 12 54 66 0 66 66 Cosmic_Gene GC GC TT GC GC TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 27334 X 78216452 78216453 39 NBL diagnosis snv NDC1 nonsense K673* NM_018087 30-PARNCW TMEM48 NONSENSE,UTR SNP Somatic 3 0.202 SQHIGH 8 12 20 0 18 18 Cosmic_Gene T T A T T TARGET-30-PARNCW-01A-01D TARGET-30-PARNCW-10A-01D 55706 1 54233651 54233651 26 NBL diagnosis snv DIRAS3 missense K56N NM_004675 30-PARNCW DIRAS3|LOC100289178 MISSENSE|INTRON SNP Somatic 7 0.309 SQHIGH 21 27 48 0 43 43 Cosmic_Gene C C A C C TARGET-30-PARNCW-01A-01D TARGET-30-PARNCW-10A-01D 9077|100289178 1 68512813 68512813 70 NBL diagnosis snv EPHA6 missense R182H NM_001080448 30-PARNCW EPHA6 MISSENSE SNP Somatic 5 0.254 SQHIGH 15 41 56 1 52 53 COSMIC:mut:98980,COSMIC:mut:98979 Cosmic_Gene G G A G G TARGET-30-PARNCW-01A-01D TARGET-30-PARNCW-10A-01D 285220 3 96706268 96706268 38 NBL diagnosis snv TRIM38 splice E1_splice NM_006355 30-PARNCW TRIM38 DISRUPT SNP Somatic 1 0.165 SQHIGH 13 41 54 1 44 45 G G C G G TARGET-30-PARNCW-01A-01D TARGET-30-PARNCW-10A-01D 10475 6 25963276 25963276 29 NBL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 30-PARNCW KCNQ1 INTRON SNP Somatic -3 0.112 SQHIGH 14 21 35 1 31 32 Cosmic_Gene C C A C C TARGET-30-PARNCW-01A-01D TARGET-30-PARNCW-10A-01D 3784 11 2660131 2660131 36 NBL diagnosis snv FOXN1 missense R128W NM_003593 30-PARNCW FOXN1 MISSENSE SNP dbsnp.134:rs144301161 Somatic 5 0.254 SQHIGH 20 44 64 0 55 55 Cosmic_Gene C C T C C TARGET-30-PARNCW-01A-01D TARGET-30-PARNCW-10A-01D 8456 17 26851779 26851779 61 NBL diagnosis snv ZNF420 silent Y125Y NM_144689 30-PARNCW ZNF420 SYNONYMOUS SNP Somatic 10 0.411 SQHIGH 10 26 36 0 32 32 C C T C C TARGET-30-PARNCW-01A-01D TARGET-30-PARNCW-10A-01D 147923 19 37618268 37618268 31 NBL diagnosis snv PDPN missense T146K NM_006474 30-PARNEE PDPN MISSENSE SNP Somatic PFAM:PF05808:Podoplanin 18 0.893 SQHIGH 18 11 29 0 61 61 Cosmic_Gene C C A C C TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 10630 1 13936889 13936889 110 NBL diagnosis snv ZFYVE9 missense G1315C NM_007324 30-PARNEE ZFYVE9 MISSENSE SNP Somatic PFAM:PF11979:DUF3480 -7 0.061 SQHIGH 115 21 136 2 54 56 Cosmic_Gene G G T G G TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 9372 1 52811735 52811735 270 NBL diagnosis snv PRR21 missense F28L NM_001080835 30-PARNEE PRR21 MISSENSE SNP Somatic 11 0.366 SQHIGH 59 51 110 0 126 126 Cosmic_Gene A A G A A TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 643905 2 240982318 240982318 245 NBL diagnosis snv PCOLCE2 missense L85M NM_013363 30-PARNEE PCOLCE2 MISSENSE SNP Somatic 15 0.658 SQHIGH 19 29 48 0 73 73 Cosmic_Gene G G T G G TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 26577 3 142567254 142567254 88 NBL diagnosis snv PDGFRB missense D850Y NM_002609 30-PARNEE PDGFRB MISSENSE SNP Somatic PFAM:PF03109:ABC1 15 0.658 SQHIGH 28 30 58 1 101 102 Cosmic_Gene C C A C C TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 5159 5 149500489 149500489 133 NBL diagnosis snv HIST1H3C missense K28M NM_003531 30-PARNEE HIST1H3C|HIST1H2BB MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00808:CBFD_NFYB_HMF 17 0.843 SQHIGH 27 13 40 0 60 60 Cosmic_Gene A A T A A TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 8352|3018 6 26045721 26045721 142 NBL diagnosis snv BRAF missense L588P NM_004333 30-PARNEE BRAF MISSENSE SNP Somatic PFAM:PF03109:ABC1 -19 0.020 4 10 14 0 15 15 COSMIC:mut:21610 Cosmic_Gene A A G A A TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 673 7 140453172 140453172 14 NBL diagnosis snv OPRK1 missense W287L NM_000912 30-PARNEE OPRK1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 4 0.162 SQHIGH 31 9 40 2 41 43 Cosmic_Gene C C A C C TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 4986 8 54142140 54142140 118 NBL diagnosis snv IARS missense L776I NM_002161 30-PARNEE IARS MISSENSE SNP Somatic 12 0.416 SQHIGH 40 38 78 0 92 92 Cosmic_Gene G G T G G TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 3376 9 95013098 95013098 167 NBL diagnosis snv HBB missense G30S NM_000518 30-PARNEE HBB MISSENSE SNP dbsnp.133:rs121909831,dbsnp.126:rs33974277 Somatic 14 0.554 SQHIGH 29 37 66 2 97 99 Cosmic_Gene C C T C C TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 3043 11 5248164 5248164 112 NBL diagnosis snv CAPZA3 missense A239E NM_033328 30-PARNEE PLCZ1|CAPZA3 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01267:F-actin_cap_A 17 0.843 SQHIGH 23 19 42 0 51 51 Cosmic_Gene C C A C C TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 89869|93661 12 18891918 18891918 99 NBL diagnosis snv TSFM missense E325Q NM_005726 30-PARNEE TSFM UTR3,INTRON,MISSENSE SNP Somatic 11 0.366 SQHIGH 8 7 15 0 22 22 G G C G G TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 10102 12 58190361 58190361 38 NBL diagnosis snv CHST11 missense G55V NM_018413 30-PARNEE CHST11 MISSENSE SNP Somatic 14 0.554 SQHIGH 17 10 27 0 32 32 G G T G G TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 50515 12 104995729 104995729 75 NBL diagnosis snv FAM124A silent S398S NM_145019 30-PARNEE FAM124A SYNONYMOUS SNP Somatic 14 0.554 SQHIGH 34 37 71 0 128 128 Cosmic_Gene C C A C C TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 220108 13 51854837 51854837 181 NBL diagnosis snv PCDH9 missense D278N NM_203487 30-PARNEE LOC730236|PCDH9 TSS-UPSTREAM|MISSENSE SNP Somatic 14 0.554 SQHIGH 42 38 80 0 86 86 Cosmic_Gene C C T C C TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 730236|5101 13 67801741 67801741 166 NBL diagnosis snv KRTAP9-1 missense S104I NM_001190460 30-PARNEE KRTAP9-1 MISSENSE SNP Somatic 17 0.843 SQHIGH 16 16 32 1 37 38 G G T G G TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 728318 17 39346449 39346449 55 NBL diagnosis snv NLRP5 missense R1168M NM_153447 30-PARNEE NLRP5 MISSENSE SNP Somatic 10 0.324 SQHIGH 15 14 29 0 42 42 Cosmic_Gene G G T G G TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 126206 19 56572794 56572794 71 NBL diagnosis snv ISM1 splice_region G263_E4splice_region NM_080826 30-PARNEE ISM1 DONOR SNP Somatic 14 0.554 SQHIGH 38 28 66 0 85 85 G G A G G TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 140862 20 13269335 13269335 173 NBL diagnosis snv CELSR1 silent A716A NM_014246 30-PARNEE CELSR1 SYNONYMOUS SNP Somatic 8 0.257 SQHIGH 21 34 55 0 114 114 Cosmic_Gene G G C G G TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 9620 22 46930920 46930920 116 NBL diagnosis snv AZU1 missense R60H NM_001700 30-PARNNC AZU1 MISSENSE SNP Somatic -7 0.081 SQHIGH 6 4 10 0 11 11 Cosmic_Gene G G A G G TARGET-30-PARNNC-01A-01D TARGET-30-PARNNC-10A-01D 566 19 828350 828350 24 NBL diagnosis snv PKLR missense A417V NM_000298 30-PARNTS PKLR MISSENSE SNP Somatic 3 0.174 SQHIGH 12 38 50 0 32 32 Cosmic_Gene G G A G G TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 5313 1 155263248 155263248 28 NBL diagnosis snv TOP1P1 EXON E9_exon NM_002022 30-PARNTS TOP1P1|FMO4 UTR|INTRON SNP Somatic 11 0.392 SQHIGH 15 34 49 0 53 53 Cosmic_Gene G G A G G TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 7151|2329 1 171309389 171309389 53 NBL diagnosis snv PLOD2 splice_region C113_E4splice_region NM_182943 30-PARNTS PLOD2 ACCEPTOR SNP Somatic 14 0.554 SQHIGH 8 12 20 0 28 28 Cosmic_Gene C C A C C TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 5352 3 145828241 145828241 35 NBL diagnosis snv HACE1 silent Q264Q NM_020771 30-PARNTS HACE1 SYNONYMOUS SNP Somatic 4 0.192 SQHIGH 7 23 30 0 32 32 Cosmic_Gene C C T C C TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 57531 6 105244554 105244554 24 NBL diagnosis snv HOXA10-HOXA9 EXON E2_exon NM_152739 30-PARNTS HOXA10-HOXA9|HOXA9 UTR|UTR3 SNP Somatic 2 0.159 SQHIGH 10 36 46 1 47 48 Cosmic_Gene C C A C C TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 100534589|3205 7 27202122 27202122 25 NBL diagnosis snv TMEM67 missense F672S NM_153704 30-PARNTS TMEM67 MISSENSE,UTR SNP Somatic PFAM:PF09773:Meckelin 11 0.392 SQHIGH 12 20 32 0 34 34 Cosmic_Gene T T C T T TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 91147 8 94809613 94809613 43 NBL diagnosis snv INTS8 silent G737G NM_017864 30-PARNTS INTS8 SYNONYMOUS SNP Somatic -1 0.121 SQHIGH 5 29 34 0 40 40 C C A C C TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 55656 8 95877868 95877868 18 NBL diagnosis snv TRIM22 missense Q203K NM_006074 30-PARNTS TRIM22 MISSENSE SNP Somatic 8 0.299 SQHIGH 15 23 38 1 65 66 C C A C C TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 10346 11 5719632 5719632 64 NBL diagnosis snv FREM2 splice_region G1755_E2splice_region NM_207361 30-PARNTS FREM2 INTRON SNP Somatic 3 0.174 SQHIGH 14 39 53 0 52 52 Cosmic_Gene C C T C C TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 341640 13 39271934 39271934 46 NBL diagnosis snv CATSPERD splice_region L456_E14splice_region NM_152784 30-PARNTS TMEM146 INTRON SNP Somatic 6 0.246 SQHIGH 8 29 37 0 32 32 Cosmic_Gene C C T C C TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 257062 19 5757952 5757952 23 NBL diagnosis snv CIB3 splice_region R29_E2splice_region NM_054113 30-PARNTS CIB3 DONOR SNP Somatic 4 0.192 SQHIGH 15 73 88 0 62 62 Cosmic_Gene G G T G G TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 117286 19 16283970 16283970 37 NBL diagnosis snv SUSD2 missense A800V NM_019601 30-PARNTS SUSD2 MISSENSE SNP Somatic -2 0.111 SQHIGH 5 25 30 0 20 20 Cosmic_Gene C C T C C TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 56241 22 24584250 24584250 12 NBL diagnosis snv SEPT3 missense N147H NM_145733 30-PARNTS SEPT3 MISSENSE SNP Somatic PFAM:PF00735:Septin 13 0.485 SQHIGH 9 28 37 0 38 38 A A C A A TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 55964 22 42383651 42383651 30 NBL diagnosis mnv LOC100507530 EXON E12_exon NM_024596 30-PARNTS MCPH1|LOC100507530 INTRON|UTR Sub Somatic -8 0.302 SQHIGH 6 36 42 0 43 43 Cosmic_Gene TC TC CT TC TC TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 79648|100507530 8 6474309 6474310 19 NBL diagnosis mnv ANK3 missense L2639S NM_020987 30-PARNTS ANK3 INTRON,MISSENSE Sub Somatic -5 0.369 SQHIGH 5 17 22 0 31 31 Cosmic_Gene CAG CAG ACT CAG CAG TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 288 10 61832722 61832724 20 NBL diagnosis complex PGPEP1L frameshift E184_E185fs NM_001102612 30-PARNTS PGPEP1L FRAMESHIFT Sub Somatic -31 0.030 4 33 37 0 57 57 TCTTC TCTTC TTTCTT TCTTC TCTTC TARGET-30-PARNTS-01A-01D TARGET-30-PARNTS-10A-01D 145814 15 99511744 99511748 17 NBL diagnosis snv ABCG8 silent V586V NM_022437 30-PARSEA ABCG8 SYNONYMOUS SNP Somatic PFAM:PF01061:ABC2_membrane 3 0.152 SQHIGH 17 59 76 0 57 57 Cosmic_Gene G G T G G TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 64241 2 44104701 44104701 45 NBL diagnosis snv RBM47 missense V148M NM_001098634 30-PARSEA RBM47 MISSENSE SNP Somatic -6 0.067 SQHIGH 9 35 44 0 43 43 Cosmic_Gene C C T C C TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 54502 4 40440469 40440469 29 NBL diagnosis snv SMR3A missense P124Q NM_012390 30-PARSEA SMR3A MISSENSE SNP Somatic -3 0.085 SQHIGH 12 62 74 0 54 54 C C A C C TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 26952 4 71232677 71232677 30 NBL diagnosis snv AGXT2 missense M358K NM_031900 30-PARSEA AGXT2 MISSENSE SNP Somatic 1 0.124 SQHIGH 7 30 37 0 25 25 Cosmic_Gene A A T A A TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 64902 5 35014115 35014115 17 NBL diagnosis snv PRRC2A missense D222E NM_080686 30-PARSEA PRRC2A MISSENSE SNP Somatic -3 0.085 SQHIGH 10 62 72 0 63 63 Cosmic_Gene C C G C C TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 7916 6 31593295 31593295 29 NBL diagnosis snv ATP6V0E2 missense R169G NM_001100592 30-PARSEA ATP6V0E2 UTR3,MISSENSE SNP Somatic 1 0.124 SQHIGH 18 42 60 0 44 44 C C G C C TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 155066 7 149576629 149576629 49 NBL diagnosis snv GIMAP5 silent L290L NM_018384 30-PARSEA GIMAP5|GIMAP1-GIMAP5 SYNONYMOUS|SYNONYMOUS SNP Somatic -5 0.072 SQHIGH 18 116 134 0 111 111 Cosmic_Gene G G A G G TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 55340|100527949 7 150440097 150440097 50 NBL diagnosis snv PSD3 silent S147S NM_015310 30-PARSEA PSD3 SYNONYMOUS SNP Somatic -3 0.085 SQHIGH 14 66 80 0 80 80 Cosmic_Gene G G A G G TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 23362 8 18729933 18729933 45 NBL diagnosis snv TUSC5 silent R80R NM_172367 30-PARSEA TUSC5 SYNONYMOUS SNP Somatic -1 0.102 SQHIGH 6 32 38 0 59 59 Cosmic_Gene C C A C C TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 286753 17 1183533 1183533 26 NBL diagnosis snv KLK5 missense G246W NM_012427 30-PARSEA KLK5 MISSENSE SNP Somatic -4 0.079 SQHIGH 10 75 85 0 77 77 C C A C C TARGET-30-PARSEA-01A-01D TARGET-30-PARSEA-10A-01D 25818 19 51447033 51447033 29 NBL diagnosis snv ARHGEF11 silent P780P NM_014784 30-PARSRJ ARHGEF11 SYNONYMOUS SNP Somatic -3 0.097 SQHIGH 10 55 65 0 60 60 Cosmic_Gene C C T C C TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 9826 1 156917124 156917124 30 NBL diagnosis snv CFAP45 missense D442E NM_012337 30-PARSRJ CFAP45 MISSENSE SNP Somatic 13 0.502 SQHIGH 23 29 52 0 35 35 Cosmic_Gene G G C G G TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 25790 1 159846372 159846372 63 NBL diagnosis snv KCNH8 missense L15V NM_144633 30-PARSRJ KCNH8 MISSENSE SNP Somatic 13 0.502 SQHIGH 8 6 14 0 36 36 Cosmic_Gene C C G C C TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 131096 3 19190254 19190254 53 NBL diagnosis snv OTOL1 missense P72T NM_001080440 30-PARSRJ OTOL1 MISSENSE SNP Somatic -3 0.097 SQHIGH 6 10 16 0 20 20 C C A C C TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 131149 3 161214809 161214809 24 NBL diagnosis snv SEC24D nonsense Y659* NM_014822 30-PARSRJ SEC24D NONSENSE SNP Somatic 8 0.299 SQHIGH 9 23 32 0 20 20 G G T G G TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 9871 4 119665161 119665161 21 NBL diagnosis snv DEPDC1B splice_region F477_E11splice_region NM_018369 30-PARSRJ DEPDC1B ACCEPTOR SNP Somatic 8 0.299 SQHIGH 16 17 33 0 37 37 Cosmic_Gene A A C A A TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 55789 5 59893748 59893748 63 NBL diagnosis snv ANKDD1B missense D56E NM_001276713 30-PARSRJ SNP Somatic -2 0.106 SQHIGH 4 22 26 0 44 44 C C G C C TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 5 74907627 74907627 18 NBL diagnosis snv HTR1B missense T315I NM_000863 30-PARSRJ HTR1B MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.244 SQHIGH 16 38 54 0 46 46 G G A G G TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 3351 6 78172177 78172177 48 NBL diagnosis snv C7orf57 missense T211I NM_001100159 30-PARSRJ C7orf57 MISSENSE SNP Somatic 6 0.244 SQHIGH 13 43 56 0 43 43 Cosmic_Gene C C T C C TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 136288 7 48092323 48092323 35 NBL diagnosis snv DEPTOR missense K48Q NM_022783 30-PARSRJ DEPTOR MISSENSE SNP Somatic 17 0.814 SQHIGH 13 23 36 0 42 42 Cosmic_Gene A A C A A TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 64798 8 120940659 120940659 50 NBL diagnosis snv ROBO3 silent L29L NM_022370 30-PARSRJ ROBO3 SYNONYMOUS SNP Somatic 2 0.156 SQHIGH 6 21 27 0 43 43 Cosmic_Gene C C T C C TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 64221 11 124735558 124735558 26 NBL diagnosis snv TDP1 missense I339L NM_018319 30-PARSRJ TDP1 MISSENSE SNP Somatic PFAM:PF06087:Tyr-DNA_phospho -4 0.089 SQHIGH 9 50 59 0 75 75 Cosmic_Gene A A T A A TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 55775 14 90450990 90450990 34 NBL diagnosis snv PKD1L2 missense S499N NM_001076780 30-PARSRJ PKD1L2 MISSENSE SNP Somatic 5 0.209 SQHIGH 13 40 53 0 51 51 Cosmic_Gene C C T C C TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 114780 16 81232314 81232314 42 NBL diagnosis snv TEN1-CDK3 EXON E8_exon NM_001258 30-PARSRJ C17orf106-CDK3|CDK3 UTR|UTR3 SNP Somatic -6 0.077 SQHIGH 8 43 51 0 38 38 Cosmic_Gene G G C G G TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 100529145|1018 17 74001716 74001716 20 NBL diagnosis snv DYRK1B silent P5P NM_004714 30-PARSRJ DYRK1B SYNONYMOUS SNP Somatic -4 0.089 SQHIGH 4 9 13 0 34 34 Cosmic_Gene C C A C C TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 9149 19 40322493 40322493 24 NBL diagnosis snv FOXA3 missense S58F NM_004497 30-PARSRJ FOXA3 MISSENSE SNP Somatic 1 0.141 SQHIGH 10 23 33 0 39 39 Cosmic_Gene C C T C C TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 3171 19 46375436 46375436 38 NBL diagnosis snv FAM71A silent A311A NM_153606 30-PARUXY FAM71A SYNONYMOUS SNP Somatic 5 0.214 SQHIGH 22 38 60 0 34 34 Cosmic_Gene C C G C C TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 149647 1 212799152 212799152 50 NBL diagnosis snv ABCB10 silent L339L NM_012089 30-PARUXY ABCB10 SYNONYMOUS SNP Somatic PFAM:PF00664:ABC_membrane 7 0.279 SQHIGH 11 37 48 0 30 30 Cosmic_Gene C C T C C TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 23456 1 229678023 229678023 25 NBL diagnosis snv BIRC6 missense G714R NM_016252 30-PARUXY BIRC6 MISSENSE SNP Somatic 7 0.279 SQHIGH 16 45 61 1 37 38 Cosmic_Gene G G C G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 57448 2 32640499 32640499 28 NBL diagnosis snv COL5A2 missense Q610H NM_000393 30-PARUXY COL5A2 MISSENSE SNP Somatic -8 0.058 SQHIGH 4 20 24 0 26 26 Cosmic_Gene C C A C C TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 1290 2 189927937 189927937 13 NBL diagnosis snv COL5A2 splice_region G108_E2splice_region NM_000393 30-PARUXY COL5A2 DONOR SNP Somatic 0 0.123 SQHIGH 11 39 50 2 41 43 Cosmic_Gene T T A T T TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 1290 2 189974945 189974945 18 NBL diagnosis snv PTH2R missense D110E NM_005048 30-PARUXY PTH2R MISSENSE SNP Somatic PFAM:PF02793:HRM -3 0.090 SQHIGH 5 22 27 0 36 36 Cosmic_Gene T T A T T TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 5746 2 209302525 209302525 19 NBL diagnosis snv ADAMTS3 missense W557C NM_014243 30-PARUXY ADAMTS3 MISSENSE SNP Somatic 3 0.171 SQHIGH 6 24 30 0 32 32 Cosmic_Gene C C A C C TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 9508 4 73179468 73179468 20 NBL diagnosis snv PRKAA1 silent C117C NM_006251 30-PARUXY PRKAA1 SYNONYMOUS SNP Somatic 2 0.154 SQHIGH 7 23 30 0 32 32 Cosmic_Gene A A G A A TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 5562 5 40775524 40775524 24 NBL diagnosis snv CDC23 missense T13K NM_004661 30-PARUXY CDC23 MISSENSE SNP Somatic 1 0.136 SQHIGH 12 66 78 1 106 107 G G T G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 8697 5 137548964 137548964 38 NBL diagnosis snv BRPF3 missense G808R NM_015695 30-PARUXY BRPF3 MISSENSE SNP Somatic 6 0.248 SQHIGH 7 19 26 0 25 25 Cosmic_Gene G G C G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 27154 6 36179277 36179277 22 NBL diagnosis snv TAAR1 missense E86G NM_138327 30-PARUXY TAAR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 1 0.136 SQHIGH 5 17 22 1 31 32 T T C T T TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 134864 6 132966886 132966886 14 NBL diagnosis snv SSPO missense Q3194H NM_198455 30-PARUXY SSPO MISSENSE SNP Somatic 11 0.435 SQHIGH 43 43 86 0 26 26 G G T G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 23145 7 149509036 149509036 65 NBL diagnosis snv LHX6 missense S77C NM_014368 30-PARUXY LHX6 MISSENSE SNP Somatic -5 0.075 SQHIGH 9 55 64 0 41 41 T T A T T TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 26468 9 124989237 124989237 20 NBL diagnosis snv SLC39A12-AS1 EXON E12_exon NM_001145195 30-PARUXY SLC39A12|LOC100129213 INTRON|UTR SNP Somatic -1 0.110 SQHIGH 6 16 22 0 33 33 Cosmic_Gene G G T G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 221074|100129213 10 18292312 18292312 26 NBL diagnosis snv MYOF splice G528R NM_013451 30-PARUXY MYOF MISSENSE SNP Somatic 6 0.248 SQHIGH 21 39 60 1 44 45 Cosmic_Gene C C T C C TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 26509 10 95147670 95147670 48 NBL diagnosis snv DMBT1 silent S54S NM_004406 30-PARUXY DMBT1 SYNONYMOUS SNP Somatic -7 0.064 SQHIGH 8 51 59 0 22 22 Cosmic_Gene G G A G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 1755 10 124330428 124330428 12 NBL diagnosis snv PHC1 nonsense R34* NM_004426 30-PARUXY PHC1 NONSENSE SNP Somatic -4 0.082 SQHIGH 7 44 51 0 26 26 Cosmic_Gene C C T C C TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 1911 12 9070373 9070373 13 NBL diagnosis snv MTUS2 silent P610P NM_001033602 30-PARUXY MTUS2 SYNONYMOUS SNP Somatic 8 0.311 SQHIGH 20 59 79 0 57 57 T T G T T TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 23281 13 29600635 29600635 52 NBL diagnosis snv LMO7 silent L911L NM_005358 30-PARUXY LMO7 SYNONYMOUS SNP Somatic 1 0.136 SQHIGH 9 36 45 0 33 33 Cosmic_Gene G G T G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 4008 13 76414628 76414628 23 NBL diagnosis snv OR5AU1 nonsense C261* NM_001004731 30-PARUXY OR5AU1 NONSENSE SNP Somatic PFAM:PF00001:7tm_1 -3 0.090 SQHIGH 11 66 77 0 59 59 Cosmic_Gene G G T G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 390445 14 21623402 21623402 29 NBL diagnosis snv C14orf93 silent S512S NM_021944 30-PARUXY C14orf93|JUB SYNONYMOUS|TSS-UPSTREAM SNP Somatic -2 0.100 SQHIGH 14 40 54 0 30 30 Cosmic_Gene G G T G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 60686|84962 14 23456505 23456505 30 NBL diagnosis snv TP53BP1 missense S248N NM_001141980 30-PARUXY TP53BP1 MISSENSE SNP dbsnp.134:rs147151977 Somatic 8 0.311 SQHIGH 10 24 34 0 29 29 Cosmic_Gene C C T C C TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 7158 15 43771640 43771640 30 NBL diagnosis snv ALDH1A2 splice W186_E6splice NM_003888 30-PARUXY ALDH1A2 ACCEPTOR SNP Somatic -3 0.090 SQHIGH 5 40 45 0 34 34 Cosmic_Gene G G C G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 8854 15 58285274 58285274 13 NBL diagnosis snv CDIPT missense H120Q NM_006319 30-PARUXY LOC440356|CDIPT TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.064 SQHIGH 15 82 97 0 57 57 G G C G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 440356|10423 16 29871956 29871956 32 NBL diagnosis snv TANC2 missense E535V NM_025185 30-PARUXY TANC2 MISSENSE SNP Somatic 1 0.136 SQHIGH 5 22 27 0 26 26 Cosmic_Gene A A T A A TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 26115 17 61428629 61428629 16 NBL diagnosis snv SEPT9 splice R492_E9splice NM_001113491 30-PARUXY SEPT9 DISRUPT SNP Somatic 4 0.192 SQHIGH 90 96 186 1 37 38 Cosmic_Gene G G T G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 10801 17 75488799 75488799 81 NBL diagnosis snv USP36 missense N358K NM_025090 30-PARUXY USP36 MISSENSE SNP Somatic PFAM:PF00443:UCH -3 0.090 SQHIGH 20 128 148 1 42 43 Cosmic_Gene A A T A A TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 57602 17 76810584 76810584 16 NBL diagnosis snv RPTOR missense A1165T NM_020761 30-PARUXY RPTOR MISSENSE SNP Somatic PFAM:PF00400:WD40 -1 0.110 SQHIGH 33 136 169 1 39 40 Cosmic_Gene G G A G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 57521 17 78933893 78933893 24 NBL diagnosis snv ZNF610 silent R447R NM_001161425 30-PARUXY ZNF880|ZNF610 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 5 0.214 SQHIGH 14 24 38 0 30 30 Cosmic_Gene G G C G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 400713|162963 19 52869972 52869972 41 NBL diagnosis snv ZNF665 missense L193I NM_024733 30-PARUXY ZNF665 MISSENSE SNP Somatic 4 0.192 SQHIGH 25 21 46 1 28 29 Cosmic_Gene G G T G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 79788 19 53669166 53669166 57 NBL diagnosis snv RTN4R missense H202Y NM_023004 30-PARUXY LOC100652746|RTN4R UTR|MISSENSE SNP Somatic 0 0.123 SQHIGH 17 39 56 0 43 43 G G A G G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 100652746|65078 22 20230052 20230052 48 NBL diagnosis mnv CROCC missense L548_L549>LM NM_014675 30-PARUXY CROCC MISSENSE Sub Somatic -6 0.393 SQHIGH 15 71 86 1 62 63 Cosmic_Gene AC AC TA AC AC TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 9696 1 17266424 17266425 29 NBL diagnosis mnv RNFT1 missense D128_T129>EA NM_016125 30-PARUXY RNFT1 MISSENSE Sub Somatic 1 0.738 SQHIGH 22 54 76 1 41 42 TA TA CC TA TA TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 51136 17 58040317 58040318 37 NBL diagnosis snv CCNL2 missense V216I NM_030937 30-PARVME CCNL2 MISSENSE SNP Somatic 0 0.123 SQHIGH 37 96 133 0 102 102 Cosmic_Gene C C T C C TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 81669 1 1328789 1328789 103 NBL diagnosis snv C1QC silent V187V NM_001114101 30-PARVME C1QC SYNONYMOUS SNP Somatic PFAM:PF00386:C1q 10 0.363 SQHIGH 25 28 53 0 46 46 C C A C C TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 714 1 22974099 22974099 83 NBL diagnosis snv LCE1B nonsense *119E NM_178349 30-PARVME LCE1B NONSTOP SNP Somatic -1 0.110 SQHIGH 18 26 44 0 49 49 T T G T T TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 353132 1 152785277 152785277 68 NBL diagnosis snv ARHGEF11 silent A335A NM_014784 30-PARVME ARHGEF11 SYNONYMOUS SNP Somatic 6 0.241 SQHIGH 18 45 63 0 41 41 Cosmic_Gene C C T C C TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 9826 1 156933010 156933010 44 NBL diagnosis snv MNDA missense M348I NM_002432 30-PARVME MNDA MISSENSE SNP Somatic PFAM:PF02760:HIN 5 0.209 SQHIGH 27 42 69 0 73 73 Cosmic_Gene G G T G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 4332 1 158817574 158817574 99 NBL diagnosis snv UGT2B7 missense L362I NM_001074 30-PARVME UGT2B7 MISSENSE SNP Somatic PFAM:PF00201:UDPGT 13 0.506 SQHIGH 8 9 17 0 27 27 Cosmic_Gene C C A C C TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 7364 4 69972974 69972974 39 NBL diagnosis snv SORBS2 missense D510N NM_001145674 30-PARVME SORBS2 INTRON,MISSENSE SNP Somatic 12 0.452 SQHIGH 34 39 73 2 72 74 Cosmic_Gene C C T C C TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 8470 4 186544755 186544755 101 NBL diagnosis snv GPR126 missense V519G NM_020455 30-PARVME GPR126 MISSENSE SNP Somatic -1 0.110 SQHIGH 14 14 28 0 17 17 Cosmic_Gene T T G T T TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 57211 6 142718881 142718881 36 NBL diagnosis snv PMS2 missense Q145H NM_000535 30-PARVME PMS2 MISSENSE,UTR SNP Somatic 3 0.171 SQHIGH 42 48 90 0 28 28 Cosmic_Gene C C A C C TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 5395 7 6042186 6042186 63 NBL diagnosis snv DNAH11 missense H2836N NM_001277115 30-PARVME DNAH11 MISSENSE SNP Somatic PFAM:PF00485:PRK 6 0.241 SQHIGH 21 85 106 0 64 64 Cosmic_Gene C C A C C TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 8701 7 21784677 21784677 47 NBL diagnosis snv PGM5 missense G23C NM_021965 30-PARVME PGM5|LOC572558 MISSENSE|INTRON SNP Somatic PFAM:PF02880:PGM_PMM_III 1 0.137 SQHIGH 14 11 25 0 28 28 Cosmic_Gene G G T G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 5239|572558 9 70972110 70972110 57 NBL diagnosis snv SVEP1 missense A2397D NM_153366 30-PARVME SVEP1 MISSENSE SNP Somatic 6 0.241 SQHIGH 33 52 85 0 78 78 Cosmic_Gene G G T G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 79987 9 113170690 113170690 109 NBL diagnosis snv CNTRL silent E1923E NM_007018 30-PARVME CNTRL SYNONYMOUS SNP Somatic 17 0.860 SQHIGH 34 34 68 0 72 72 Cosmic_Gene G G A G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 11064 9 123929880 123929880 131 NBL diagnosis snv MKX nonsense E261* NM_173576 30-PARVME MKX NONSENSE SNP Somatic 19 0.955 SQHIGH 16 17 33 0 44 44 Cosmic_Gene C C A C C TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 283078 10 28023442 28023442 71 NBL diagnosis snv PLCE1 missense E521D NM_016341 30-PARVME PLCE1 MISSENSE SNP Somatic 13 0.506 SQHIGH 24 25 49 0 90 90 Cosmic_Gene G G T G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 51196 10 95931007 95931007 129 NBL diagnosis snv SERPINA10 silent S28S NM_016186 30-PARVME SERPINA10 SYNONYMOUS SNP Somatic 13 0.506 SQHIGH 18 29 47 0 61 61 Cosmic_Gene C C T C C TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 51156 14 94756847 94756847 75 NBL diagnosis snv ACAN silent V780V NM_001135 30-PARVME ACAN SYNONYMOUS SNP Somatic 6 0.241 SQHIGH 22 30 52 0 63 63 Cosmic_Gene G G T G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 176 15 89398156 89398156 89 NBL diagnosis snv KIF22 silent P464P NM_007317 30-PARVME KIF22|MAZ SYNONYMOUS|TSS-UPSTREAM SNP Somatic 6 0.241 SQHIGH 17 29 46 1 73 74 Cosmic_Gene A A C A A TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 3835|4150 16 29814201 29814201 69 NBL diagnosis snv DLG4 splice_region A733_E22splice_region NM_001365 30-PARVME DLG4 ACCEPTOR SNP Somatic 10 0.363 SQHIGH 14 31 45 0 49 49 Cosmic_Gene G G C G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 1742 17 7094137 7094137 50 NBL diagnosis snv ZNF729 nonsense E744* NM_001242680 30-PARVME ZNF729 NONSENSE SNP Somatic 16 0.748 SQHIGH 14 21 35 0 25 25 Cosmic_Gene G G T G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 100287226 19 22498449 22498449 39 NBL diagnosis snv PPFIA3 missense D752Y NM_003660 30-PARVME PPFIA3 MISSENSE SNP Somatic 7 0.270 SQHIGH 18 42 60 0 71 71 Cosmic_Gene G G T G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 8541 19 49643231 49643231 68 NBL diagnosis snv FCAR missense E247K NM_002000 30-PARVME FCAR SYNONYMOUS,MISSENSE SNP dbsnp.131:rs75257909 Somatic 5 0.209 SQHIGH 15 43 58 0 58 58 Cosmic_Gene G G A G G TARGET-30-PARVME-01A-01D TARGET-30-PARVME-10A-01D 2204 19 55401104 55401104 50 NBL diagnosis snv PHC2 missense S621T NM_198040 30-PARXLM PHC2 MISSENSE SNP Somatic -1 0.112 SQHIGH 4 18 22 0 26 26 Cosmic_Gene A A T A A TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 1912 1 33797903 33797903 14 NBL diagnosis snv INPP5B splice_region R210_E8splice_region NM_005540 30-PARXLM INPP5B INTRON SNP Somatic 15 0.669 SQHIGH 13 21 34 0 52 52 Cosmic_Gene G G A G G TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 3633 1 38357020 38357020 60 NBL diagnosis snv FAM161A missense I620V NM_032180 30-PARXLM FAM161A MISSENSE,UTR SNP Somatic 15 0.669 SQHIGH 17 16 33 0 36 36 Cosmic_Gene T T C T T TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 84140 2 62053715 62053715 67 NBL diagnosis snv PCDHA12 missense V667M NM_018903 30-PARXLM PCDHA4|PCDHA11|PCDHA1|PCDHA9|PCDHA5|PCDHA8|PCDHA6|PCDHA7|PCDHA10|PCDHA13|PCDHA12|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM|MISSENSE|INTRON|INTRON SNP Somatic 7 0.256 SQHIGH 9 18 27 0 25 25 Cosmic_Gene G G A G G TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 56144|56138|56147|9752|56143|56140|56142|56141|56139|56136|56137|56145|56146 5 140257056 140257056 29 NBL diagnosis snv HIST1H2BA missense R35H NM_170610 30-PARXLM HIST1H2BA|HIST1H2AA MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.229 SQHIGH 21 46 67 0 67 67 Cosmic_Gene G G A G G TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 255626|221613 6 25727240 25727240 71 NBL diagnosis snv HEATR2 silent S442S NM_017802 30-PARXLM HEATR2 SYNONYMOUS SNP Somatic 8 0.284 SQHIGH 21 53 74 0 59 59 Cosmic_Gene G G A G G TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 54919 7 796487 796487 60 NBL diagnosis snv KIAA1549 missense V1013I NM_020910 30-PARXLM KIAA1549 MISSENSE SNP Somatic -5 0.079 SQHIGH 9 10 19 0 11 11 Cosmic_Gene C C T C C TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 57670 7 138596000 138596000 22 NBL diagnosis snv CPNE3 silent K257K NM_003909 30-PARXLM CPNE3 SYNONYMOUS SNP dbsnp.134:rs146245622 Somatic -39 0.000 5 22 27 0 29 29 COSMIC:mut:106394 Cosmic_Gene G G A G G TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 8895 8 87558861 87558861 17 NBL diagnosis snv OR10G7 silent D265D NM_001004463 30-PARXLM OR10G7 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 11 0.394 SQHIGH 10 26 36 0 35 35 Cosmic_Gene G G A G G TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 390265 11 123908914 123908914 33 NBL diagnosis snv LRP1 missense A2737P NM_002332 30-PARXLM LRP1 MISSENSE SNP Somatic 14 0.582 SQHIGH 10 19 29 0 47 47 Cosmic_Gene G G C G G TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 4035 12 57588785 57588785 47 NBL diagnosis snv FBXW8 missense A244G NM_153348 30-PARXLM FBXW8 MISSENSE SNP Somatic PFAM:PF00400:WD40 15 0.669 SQHIGH 24 24 48 0 66 66 Cosmic_Gene C C G C C TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 26259 12 117402555 117402555 109 NBL diagnosis snv ADAM11 missense H689N NM_002390 30-PARXLM ADAM11 MISSENSE SNP Somatic 2 0.149 SQHIGH 36 55 91 0 54 55 Cosmic_Gene C C A C C TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 4185 17 42855226 42855226 87 NBL diagnosis snv PNPLA6 splice_region P247_E7splice_region NM_001166111 30-PARXLM PNPLA6 DONOR SNP Somatic 6 0.229 SQHIGH 7 17 24 0 28 28 Cosmic_Gene A A C A A TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 10908 19 7605198 7605198 26 NBL diagnosis snv HMGN5 missense A70E NM_030763 30-PARXLM HMGN5 MISSENSE SNP Somatic PFAM:PF01101:HMG14_17 -5 0.079 SQHIGH 4 7 11 0 22 22 Cosmic_Gene G G T G G TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 79366 X 80371761 80371761 21 NBL diagnosis mnv MRVI1-AS1 EXON E17_exon NM_001098579 30-PARXLM MRVI1|LOC100129827 INTRON|INTRON Sub Somatic -4 0.402 SQHIGH 5 13 18 1 28 29 Cosmic_Gene GAGTG GAGTG TCCTT GAGTG GAGTG TARGET-30-PARXLM-01A-01D TARGET-30-PARXLM-10A-01D 10335|100129827 11 10607597 10607601 16 NBL diagnosis snv LRIF1 nonsense E443* NM_018372 30-PARYNK LOC100506293|LRIF1 INTRON|INTRON,NONSENSE SNP Somatic 11 0.379 SQHIGH 14 31 45 0 63 63 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 100506293|55791 1 111494179 111494179 59 NBL diagnosis snv EPHA3 missense K444N NM_005233 30-PARYNK EPHA3 MISSENSE SNP Somatic -9 0.059 SQHIGH 7 47 54 0 50 50 Cosmic_Gene G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 2042 3 89445012 89445012 21 NBL diagnosis snv LRCH3 missense G359R NM_032773 30-PARYNK LRCH3 MISSENSE SNP Somatic 15 0.641 SQHIGH 17 22 39 0 44 44 Cosmic_Gene G G C G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 84859 3 197559161 197559161 66 NBL diagnosis snv ARAP2 splice G725_E11splice NM_015230 30-PARYNK ARAP2 DISRUPT SNP Somatic 14 0.551 SQHIGH 11 27 38 0 53 53 Cosmic_Gene C C T C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 116984 4 36166535 36166535 46 NBL diagnosis snv FAM114A1 missense H377Q NM_138389 30-PARYNK FAM114A1 MISSENSE,UTR SNP Somatic 11 0.379 SQHIGH 17 23 40 0 30 30 Cosmic_Gene T T A T T TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 92689 4 38930924 38930924 49 NBL diagnosis snv ADAMTS3 missense A397D NM_014243 30-PARYNK ADAMTS3 MISSENSE SNP Somatic 9 0.308 SQHIGH 9 21 30 0 25 25 Cosmic_Gene G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 9508 4 73185593 73185593 26 NBL diagnosis snv WDFY3 splice_region A2407_E44splice_region NM_014991 30-PARYNK WDFY3 DONOR SNP Somatic 6 0.229 SQHIGH 17 36 53 0 56 56 Cosmic_Gene A A G A A TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 23001 4 85654529 85654529 60 NBL diagnosis snv DCHS2 missense L49F NM_017639 30-PARYNK DCHS2 INTRON,MISSENSE SNP Somatic 6 0.229 SQHIGH 17 37 54 1 49 50 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 54798 4 155305607 155305607 44 NBL diagnosis snv CDH6 missense R638Q NM_004932 30-PARYNK CDH6 MISSENSE SNP Somatic PFAM:PF01049:Cadherin_C 8 0.279 SQHIGH 8 28 36 0 47 47 Cosmic_Gene G G A G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 1004 5 31322955 31322955 31 NBL diagnosis snv NNT missense R27S NM_012343 30-PARYNK NNT MISSENSE SNP Somatic 11 0.379 SQHIGH 13 27 40 0 52 52 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 23530 5 43609376 43609376 53 NBL diagnosis snv IQGAP2 splice_region E843_E21splice_region NM_006633 30-PARYNK IQGAP2 INTRON SNP Somatic 2 0.147 SQHIGH 7 28 35 0 37 37 Cosmic_Gene G G C G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 10788 5 75954500 75954500 23 NBL diagnosis snv SH3TC2 missense A803S NM_024577 30-PARYNK SH3TC2 MISSENSE SNP Somatic 4 0.179 SQHIGH 31 57 88 0 60 60 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 79628 5 148406888 148406888 81 NBL diagnosis snv BTNL8 splice_region K306_E4splice_region NM_024850 30-PARYNK BTNL8 INTRON,DONOR SNP Somatic -5 0.080 SQHIGH 14 48 62 0 41 41 Cosmic_Gene A A T A A TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 79908 5 180374758 180374758 34 NBL diagnosis snv PKD1L1 missense P1020T NM_138295 30-PARYNK PKD1L1 MISSENSE SNP Somatic -7 0.069 SQHIGH 5 36 41 0 47 47 Cosmic_Gene G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 168507 7 47925431 47925431 17 NBL diagnosis snv WBSCR17 missense P522T NM_022479 30-PARYNK WBSCR17 MISSENSE SNP Somatic -9 0.059 SQHIGH 6 44 50 0 52 52 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 64409 7 71175809 71175809 19 NBL diagnosis snv ZNF277 silent G8G NM_021994 30-PARYNK DOCK4|ZNF277 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 1 0.134 SQHIGH 11 45 56 0 44 44 Cosmic_Gene G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 9732|11179 7 111846795 111846795 30 NBL diagnosis snv AP3M2 splice_region N224_E7splice_region NM_001134296 30-PARYNK AP3M2 ACCEPTOR SNP Somatic 15 0.641 SQHIGH 18 28 46 0 43 43 G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 10947 8 42022937 42022937 60 NBL diagnosis snv LRRC18 silent T235T NM_001006939 30-PARYNK WDFY4|LRRC18 INTRON|SYNONYMOUS SNP Somatic 5 0.197 SQHIGH 28 50 78 0 76 76 Cosmic_Gene G G C G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 57705|474354 10 50121496 50121496 95 NBL diagnosis snv OR4C12 missense A76D NM_001005270 30-PARYNK OR4C12 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.229 SQHIGH 20 52 72 0 50 50 Cosmic_Gene G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 283093 11 50003811 50003811 51 NBL diagnosis snv ATL3 missense P114L NM_015459 30-PARYNK ATL3 MISSENSE SNP Somatic 15 0.641 SQHIGH 10 21 31 0 44 44 Cosmic_Gene G G A G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 25923 11 63426297 63426297 43 NBL diagnosis snv RBM14 missense G10R NM_006328 30-PARYNK RBM14-RBM4|RBM14 MISSENSE|MISSENSE SNP Somatic -6 0.074 SQHIGH 8 43 51 0 35 35 Cosmic_Gene G G A G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 100526737|10432 11 66384219 66384219 19 NBL diagnosis snv DSCAML1 missense I574T NM_020693 30-PARYNK DSCAML1 MISSENSE SNP Somatic -8 0.064 SQHIGH 5 17 22 0 25 25 Cosmic_Gene A A G A A TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 57453 11 117387424 117387424 18 NBL diagnosis snv RAB3IP missense F472L NM_175623 30-PARYNK RAB3IP UTR3,MISSENSE SNP Somatic 8 0.279 SQHIGH 10 26 36 0 45 45 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 117177 12 70209211 70209211 39 NBL diagnosis snv FAM109A missense L138Q NM_144671 30-PARYNK FAM109A MISSENSE SNP Somatic -10 0.056 SQHIGH 7 17 24 0 14 14 A A T A A TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 144717 12 111800819 111800819 16 NBL diagnosis snv FAM109A missense A137P NM_144671 30-PARYNK FAM109A MISSENSE SNP Somatic -10 0.056 SQHIGH 6 15 21 0 15 15 C C G C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 144717 12 111800823 111800823 16 NBL diagnosis snv ENOX1 splice G197_E7splice NM_017993 30-PARYNK ENOX1 MISSENSE SNP Somatic -2 0.101 SQHIGH 9 42 51 0 54 54 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 55068 13 43933987 43933987 30 NBL diagnosis snv TMEM63C splice N589_E20splice NM_020431 30-PARYNK TMEM63C ACCEPTOR SNP Somatic -7 0.069 SQHIGH 7 46 53 0 45 45 C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 57156 14 77715107 77715107 20 NBL diagnosis snv TPSD1 silent T125T NM_012217 30-PARYNK TPSD1 SYNONYMOUS SNP dbsnp.131:rs74470113 Somatic -2 0.101 SQHIGH 4 17 21 0 26 26 C C T C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 23430 16 1306918 1306918 15 NBL diagnosis snv NLRC3 missense L161F NM_178844 30-PARYNK NLRC3 MISSENSE SNP Somatic PFAM:PF00485:PRK 0 0.121 SQHIGH 14 29 43 0 42 42 Cosmic_Gene G G A G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 197358 16 3614457 3614457 47 NBL diagnosis snv ITGAX missense L239F NM_000887 30-PARYNK ITGAX MISSENSE SNP Somatic 11 0.379 SQHIGH 13 28 41 0 62 62 Cosmic_Gene G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 3687 16 31371640 31371640 58 NBL diagnosis snv SNX20 missense L165M NM_182854 30-PARYNK SNX20 INTRON,MISSENSE SNP Somatic 16 0.711 SQHIGH 10 19 29 0 36 36 Cosmic_Gene G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 124460 16 50707775 50707775 40 NBL diagnosis snv CDH5 missense A395G NM_001795 30-PARYNK CDH5 MISSENSE SNP Somatic 9 0.308 SQHIGH 23 32 55 0 51 51 Cosmic_Gene C C G C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 1003 16 66426253 66426253 78 NBL diagnosis snv CYB5D2 missense C189F NM_144611 30-PARYNK CYB5D2 MISSENSE,UTR SNP Somatic 3 0.163 SQHIGH 12 57 69 1 55 56 Cosmic_Gene G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 124936 17 4058142 4058142 25 NBL diagnosis snv SREBF1 missense A789V NM_001005291 30-PARYNK MIR33B|SREBF1 TSS-UPSTREAM|MISSENSE SNP Somatic 8 0.279 SQHIGH 11 16 27 0 27 27 Cosmic_Gene G G A G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 693120|6720 17 17719281 17719281 39 NBL diagnosis snv ANKRD24 missense G668V NM_133475 30-PARYNK ANKRD24 MISSENSE SNP Somatic 12 0.424 SQHIGH 16 32 48 0 56 56 G G T G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 170961 19 4217160 4217160 61 NBL diagnosis snv MUC16 missense E8343G NM_024690 30-PARYNK MUC16 MISSENSE SNP Somatic 13 0.477 SQHIGH 13 19 32 0 50 50 Cosmic_Gene T T C T T TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 94025 19 9062418 9062418 61 NBL diagnosis snv XRCC1 silent T279T NM_006297 30-PARYNK XRCC1 SYNONYMOUS SNP Somatic -9 0.059 SQHIGH 13 43 56 2 43 45 Cosmic_Gene A A G A A TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 7515 19 44056414 44056414 21 NBL diagnosis snv TMC4 missense R106I NM_001145303 30-PARYNK TMC4 MISSENSE SNP Somatic 0 0.121 SQHIGH 6 8 14 0 16 16 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 147798 19 54673393 54673393 23 NBL diagnosis snv LILRA4 missense K434N NM_012276 30-PARYNK LILRA4 MISSENSE SNP Somatic 5 0.197 SQHIGH 17 40 57 0 55 55 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 23547 19 54845190 54845190 56 NBL diagnosis snv TGM6 missense Q237K NM_198994 30-PARYNK TGM6 MISSENSE SNP Somatic 14 0.551 SQHIGH 29 26 55 0 31 31 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 343641 20 2380243 2380243 73 NBL diagnosis snv KRTAP19-4 missense G14V NM_181610 30-PARYNK KRTAP19-4 MISSENSE SNP Somatic 13 0.477 SQHIGH 16 31 47 0 63 63 Cosmic_Gene C C A C C TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 337971 21 31869388 31869388 67 NBL diagnosis snv LIMK2 silent E621E NM_005569 30-PARYNK LIMK2 SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 13 37 50 0 42 42 Cosmic_Gene G G A G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 3985 22 31674373 31674373 38 NBL diagnosis snv NLGN3 missense S842P NM_181303 30-PARYNK NLGN3 MISSENSE SNP Somatic -5 0.080 SQHIGH 7 27 34 2 49 51 Cosmic_Gene T T C T T TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 54413 X 70389924 70389924 17 NBL diagnosis snv SOX3 silent P338P NM_005634 30-PARYNK SOX3 SYNONYMOUS SNP Somatic 0 0.121 SQHIGH 4 5 9 0 17 17 Cosmic_Gene G G A G G TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 6658 X 139586212 139586212 21 NBL diagnosis mnv C11orf30 missense Q434L NM_020193 30-PARYNK C11orf30 MISSENSE Sub Somatic -28 0.078 3 10 13 0 24 24 Cosmic_Gene CA CA TT CA CA TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 56946 11 76207450 76207451 14 NBL diagnosis snv NPR3 splice_region G298_E2splice_region NM_000908 30-PARZCJ NPR3 INTRON SNP Somatic -1 0.123 SQHIGH 6 30 36 1 43 44 Cosmic_Gene G G C G G TARGET-30-PARZCJ-01A-01D TARGET-30-PARZCJ-10A-01D 4883 5 32724935 32724935 15 NBL diagnosis snv C6orf223 missense L38P NM_001171992 30-PARZHA C6orf223 ACCEPTOR,MISSENSE SNP Somatic -9 0.063 SQHIGH 6 29 35 0 29 29 T T C T T TARGET-30-PARZHA-01A-01D TARGET-30-PARZHA-10A-01D 221416 6 43968742 43968742 17 NBL diagnosis snv DMPK missense F146L NM_001081563 30-PARZHA DMPK MISSENSE SNP Somatic 11 0.463 SQHIGH 17 21 38 1 41 42 Cosmic_Gene G G C G G TARGET-30-PARZHA-01A-01D TARGET-30-PARZHA-10A-01D 1760 19 46282546 46282546 55 NBL diagnosis snv BAIAP2L2 missense S68P NM_025045 30-PARZHA BAIAP2L2 MISSENSE SNP Somatic PFAM:PF08397:IMD -6 0.084 SQHIGH 7 16 23 0 39 39 Cosmic_Gene A A G A A TARGET-30-PARZHA-01A-01D TARGET-30-PARZHA-10A-01D 80115 22 38504274 38504274 33 NBL diagnosis snv RCAN3 missense R131Q NM_013441 30-PARZIP RCAN3 MISSENSE SNP Somatic PFAM:PF04847:Calcipressin -6 0.087 SQHIGH 7 25 32 0 27 27 G G A G G TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 11123 1 24859595 24859595 20 NBL diagnosis snv KCNJ9 missense E327G NM_004983 30-PARZIP KCNJ9 MISSENSE SNP Somatic PFAM:PF07885:Ion_trans_2 -9 0.069 SQHIGH 5 31 36 0 28 28 Cosmic_Gene A A G A A TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 3765 1 160057405 160057405 13 NBL diagnosis snv NFASC missense G390R NM_001005388 30-PARZIP NFASC MISSENSE SNP Somatic -1 0.130 SQHIGH 13 42 55 2 42 44 Cosmic_Gene G G A G G TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 23114 1 204942436 204942436 21 NBL diagnosis snv ALK missense F1174C NM_004304 30-PARZIP ALK MISSENSE SNP Somatic 15 0.693 SQHIGH 23 33 56 0 33 33 COSMIC:mut:28059 Cosmic_Gene A A C A A TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 238 2 29443696 29443696 56 NBL diagnosis snv STAG1 missense R347K NM_005862 30-PARZIP STAG1 MISSENSE SNP Somatic -1 0.130 SQHIGH 4 14 18 0 27 27 Cosmic_Gene C C T C C TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 10274 3 136192466 136192466 17 NBL diagnosis snv LRRC34 missense D360G NM_153353 30-PARZIP LRRC34 MISSENSE SNP Somatic -9 0.069 SQHIGH 5 21 26 0 28 28 T T C T T TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 151827 3 169513289 169513289 17 NBL diagnosis snv C1QTNF7 missense D139H NM_001135170 30-PARZIP C1QTNF7 MISSENSE SNP Somatic 7 0.312 SQHIGH 17 44 61 0 49 49 G G C G G TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 114905 4 15443947 15443947 49 NBL diagnosis snv PPEF2 missense G4A NM_006239 30-PARZIP PPEF2 MISSENSE SNP Somatic 7 0.312 SQHIGH 16 49 65 0 56 56 Cosmic_Gene C C G C C TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 5470 4 76817468 76817468 47 NBL diagnosis snv LOC100128176 EXON E4_exon NM_005715 30-PARZIP UST|LOC100128176 INTRON|UTR SNP Somatic 3 0.191 SQHIGH 8 22 30 0 32 32 Cosmic_Gene A A G A A TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 10090|100128176 6 149275957 149275957 28 NBL diagnosis snv TNC missense V1402L NM_002160 30-PARZIP TNC MISSENSE SNP Somatic PFAM:PF00041:fn3 3 0.191 SQHIGH 9 31 40 0 37 37 Cosmic_Gene C C A C C TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 3371 9 117822111 117822111 28 NBL diagnosis snv FBXW2 missense F374L NM_012164 30-PARZIP FBXW2 MISSENSE SNP Somatic -5 0.093 SQHIGH 6 17 23 1 34 35 Cosmic_Gene A A G A A TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 26190 9 123527082 123527082 19 NBL diagnosis snv KCNQ1OT1 EXON E11_exon NM_000218 30-PARZIP KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 9 0.372 SQHIGH 10 29 39 0 31 31 Cosmic_Gene A A G A A TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 3784|10984 11 2715297 2715297 28 NBL diagnosis snv OR4A47 silent L185L NM_001005512 30-PARZIP OR4A47 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 17 0.867 SQHIGH 9 17 26 0 44 44 Cosmic_Gene G G T G G TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 403253 11 48510899 48510899 43 NBL diagnosis snv GAPDH missense G115R NM_002046 30-PARZIP GAPDH MISSENSE SNP Somatic PFAM:PF00044:Gp_dh_N 3 0.191 SQHIGH 17 39 56 0 47 47 G G A G G TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 2597 12 6646282 6646282 51 NBL diagnosis snv MAP3K9 missense E764G NM_033141 30-PARZIP MAP3K9 MISSENSE SNP Somatic -7 0.080 SQHIGH 11 24 35 0 38 38 Cosmic_Gene T T C T T TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 4293 14 71199837 71199837 39 NBL diagnosis snv YLPM1 missense E1954G NM_019589 30-PARZIP YLPM1 MISSENSE SNP Somatic -6 0.087 SQHIGH 5 29 34 0 41 41 Cosmic_Gene A A G A A TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 56252 14 75283809 75283809 18 NBL diagnosis snv SERPINA5 missense L34F NM_000624 30-PARZIP SERPINA5 MISSENSE SNP Somatic 13 0.544 SQHIGH 19 26 45 0 58 58 Cosmic_Gene C C T C C TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 5104 14 95053799 95053799 80 NBL diagnosis snv ADCY9 missense M1219V NM_001116 30-PARZIP ADCY9 MISSENSE SNP Somatic 7 0.312 SQHIGH 22 33 55 0 55 55 Cosmic_Gene T T C T T TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 115 16 4016183 4016183 78 NBL diagnosis snv G6PC3 missense S131L NM_138387 30-PARZIP G6PC3 MISSENSE,UTR SNP Somatic 8 0.342 SQHIGH 34 38 72 1 42 43 Cosmic_Gene C C T C C TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 92579 17 42152114 42152114 74 NBL diagnosis snv ASXL3 silent L1191L NM_030632 30-PARZIP ASXL3 SYNONYMOUS SNP Somatic 7 0.312 SQHIGH 4 14 18 0 20 20 Cosmic_Gene T T G T T TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 80816 18 31323385 31323385 14 NBL diagnosis snv APC2 missense S1722P NM_005883 30-PARZIP APC2 MISSENSE SNP Somatic 8 0.342 SQHIGH 9 25 34 0 30 30 Cosmic_Gene T T C T T TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 10297 19 1468464 1468464 27 NBL diagnosis snv C19orf80 missense L166P NM_018687 30-PARZIP DOCK6|C19orf80 INTRON|MISSENSE SNP Somatic -9 0.069 SQHIGH 9 23 32 1 38 39 Cosmic_Gene T T C T T TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 57572|55908 19 11352158 11352158 26 NBL diagnosis snv ZNF835 missense G480R NM_001005850 30-PARZIP ZNF835 MISSENSE SNP Somatic -1 0.130 SQHIGH 14 25 39 0 31 31 Cosmic_Gene C C T C C TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 90485 19 57175129 57175129 41 NBL diagnosis snv ARFGEF2 missense D1411G NM_006420 30-PARZIP ARFGEF2 MISSENSE SNP Somatic -10 0.064 SQHIGH 9 31 40 0 27 27 Cosmic_Gene A A G A A TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 10564 20 47632869 47632869 22 NBL diagnosis snv CECR5 missense R29Q NM_017829 30-PARZIP CECR5 MISSENSE SNP Somatic 2 0.173 SQHIGH 7 29 36 0 23 23 C C T C C TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 27440 22 17630586 17630586 16 NBL diagnosis snv THNSL2 silent L310L NM_018271 30-PASATK THNSL2 SYNONYMOUS SNP Somatic -2 0.103 SQHIGH 20 27 47 0 36 36 Cosmic_Gene G G A G G TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 55258 2 88482345 88482345 59 NBL diagnosis snv INSIG2 missense G176S NM_016133 30-PASATK INSIG2 MISSENSE SNP Somatic PFAM:PF07281:INSIG -3 0.095 SQHIGH 5 21 26 1 47 48 Cosmic_Gene G G A G G TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 51141 2 118864469 118864469 17 NBL diagnosis snv ULK4 missense R40T NM_017886 30-PASATK ULK4 MISSENSE SNP Somatic PFAM:PF03109:ABC1 0 0.125 SQHIGH 10 5 15 0 21 21 C C G C C TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 54986 3 41996133 41996133 49 NBL diagnosis snv FGFR3 missense R571W NM_000142 30-PASATK FGFR3 MISSENSE SNP Somatic PFAM:PF03109:ABC1 -1 0.114 SQHIGH 17 22 39 0 38 38 Cosmic_Gene C C T C C TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 2261 4 1807542 1807542 60 NBL diagnosis snv RGL2 missense A168S NM_004761 30-PASATK RGL2 MISSENSE,UTR SNP Somatic 10 0.363 SQHIGH 30 36 66 0 40 40 Cosmic_Gene C C A C C TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 5863 6 33264071 33264071 76 NBL diagnosis snv SDK1 silent P1761P NM_152744 30-PASATK SDK1 SYNONYMOUS,UTR SNP Somatic 8 0.293 SQHIGH 34 38 72 0 61 61 Cosmic_Gene C C G C C TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 221935 7 4247799 4247799 111 NBL diagnosis snv USP42 missense H1152Q NM_032172 30-PASATK USP42 MISSENSE SNP Somatic 7 0.264 SQHIGH 39 51 90 0 52 52 Cosmic_Gene C C G C C TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 84132 7 6194641 6194641 95 NBL diagnosis snv SP4 missense S292N NM_003112 30-PASATK SP4 MISSENSE SNP Somatic 7 0.264 SQHIGH 24 23 47 0 37 37 Cosmic_Gene G G A G G TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 6671 7 21469658 21469658 76 NBL diagnosis snv ABCA13 silent A2102A NM_152701 30-PASATK ABCA13 SYNONYMOUS SNP Somatic 17 0.861 SQHIGH 22 26 48 0 53 53 Cosmic_Gene C C A C C TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 154664 7 48315569 48315569 85 NBL diagnosis snv PUF60 missense I475V NM_078480 30-PASATK SCRIB|PUF60|MIR937 TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic 10 0.363 SQHIGH 15 22 37 0 25 25 Cosmic_Gene T T C T T TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 23513|22827|100126338 8 144898947 144898947 40 NBL diagnosis snv FOXI2 missense P277Q NM_207426 30-PASATK FOXI2 MISSENSE SNP Somatic 4 0.185 SQHIGH 13 24 37 0 35 35 C C A C C TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 399823 10 129537102 129537102 43 NBL diagnosis snv OSBPL5 nonsense Q377* NM_020896 30-PASATK OSBPL5 NONSENSE SNP Somatic 2 0.153 SQHIGH 10 18 28 1 34 35 Cosmic_Gene G G A G G TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 114879 11 3125538 3125538 31 NBL diagnosis snv CHEK1 missense L144P NM_001114122 30-PASATK CHEK1 MISSENSE SNP Somatic -3 0.095 SQHIGH 7 16 23 0 19 19 Cosmic_Gene T T C T T TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 1111 11 125503064 125503064 20 NBL diagnosis snv PYROXD1 missense R455L NM_024854 30-PASATK PYROXD1 MISSENSE SNP Somatic 13 0.514 SQHIGH 14 7 21 0 23 23 Cosmic_Gene G G T G G TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 79912 12 21621549 21621549 60 NBL diagnosis snv SPERT missense N397K NM_152719 30-PASATK SPERT MISSENSE SNP Somatic 6 0.234 SQHIGH 27 51 78 0 69 69 Cosmic_Gene C C A C C TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 220082 13 46288351 46288351 85 NBL diagnosis snv ARHGAP23 silent A1380A NM_001199417 30-PASATK ARHGAP23 SYNONYMOUS SNP Somatic -10 0.055 SQHIGH 8 11 19 0 11 11 Cosmic_Gene G G A G G TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 57636 17 36666872 36666872 19 NBL diagnosis snv MPP2 nonsense E423* NM_005374 30-PASATK MPP2 NONSENSE SNP Somatic 2 0.153 SQHIGH 32 101 133 0 55 55 C C A C C TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 4355 17 41957236 41957236 54 NBL diagnosis snv OR7G1 missense K16N NM_001005192 30-PASATK OR7G1 MISSENSE SNP Somatic 14 0.593 SQHIGH 24 22 46 0 44 44 Cosmic_Gene T T A T T TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 125962 19 9226392 9226392 87 NBL diagnosis snv CCDC151 nonsense R292* NM_145045 30-PASATK CCDC151 NONSENSE SNP Somatic 11 0.407 SQHIGH 20 17 37 0 31 31 Cosmic_Gene G G A G G TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 115948 19 11537053 11537053 67 NBL diagnosis mnv PHRF1 missense Q1582L NM_020901 30-PASATK PHRF1 MISSENSE Sub Somatic 2 0.798 SQHIGH 28 41 69 0 62 62 AG AG TA AG AG TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 57661 11 611024 611025 92 NBL diagnosis snv ELTD1 splice K132_E4splice NM_022159 30-PASAZJ ELTD1 DISRUPT SNP Somatic 0 0.127 SQHIGH 8 23 31 1 28 29 Cosmic_Gene C C T C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 64123 1 79404872 79404872 Somatic Illumina 18 54521 12377 66909 85407 19 85439 NBL diagnosis snv TRIM11 missense L188F NM_145214 30-PASAZJ TRIM11 MISSENSE SNP Somatic 7 0.346 SQHIGH 9 21 30 0 20 20 Cosmic_Gene C C A C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 81559 1 228588836 228588836 22 NBL diagnosis snv AHCTF1 missense C1637S NM_015446 30-PASAZJ AHCTF1 MISSENSE SNP Somatic 2 0.168 SQHIGH 21 42 63 0 39 39 Cosmic_Gene A A T A A TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 25909 1 247014426 247014426 Somatic Illumina 51 29691 9613 39335 52225 2 52252 NBL diagnosis snv ALK missense R1275L NM_004304 30-PASAZJ ALK MISSENSE SNP Somatic -1 0.112 SQHIGH 15 45 60 1 35 36 Cosmic_Gene C C A C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 238 2 29432664 29432664 Somatic Illumina 25 12717 3212 15938 7890 3 7897 NBL diagnosis snv ACOXL splice_region Q82_E4splice_region NM_001142807 30-PASAZJ ACOXL DONOR SNP Somatic 8 0.387 SQHIGH 21 52 73 1 58 59 A A G A A TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 55289 2 111551316 111551316 TumorFP Illumina 50 43193 1047 44261 47261 18 47299 NBL diagnosis snv CLASP1 missense V922M NM_015282 30-PASAZJ CLASP1 MISSENSE SNP Somatic 2 0.168 SQHIGH 8 28 36 0 29 29 Cosmic_Gene C C T C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 23332 2 122159221 122159221 22 NBL diagnosis snv KAT2B missense K442E NM_003884 30-PASAZJ KAT2B MISSENSE SNP Somatic -2 0.099 SQHIGH 6 21 27 0 27 27 Cosmic_Gene A A G A A TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 8850 3 20164207 20164207 19 NBL diagnosis snv KIAA1524 silent V204V NM_020890 30-PASAZJ KIAA1524 SYNONYMOUS SNP Somatic 9 0.430 SQHIGH 14 26 40 0 28 28 Cosmic_Gene C C A C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 57650 3 108298473 108298473 37 NBL diagnosis snv PXYLP1 silent S418S NM_152282 30-PASAZJ PXYLP1 SYNONYMOUS SNP Somatic PFAM:PF00328:His_Phos_2 5 0.252 SQHIGH 12 37 49 0 52 52 Cosmic_Gene C C T C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 92370 3 141011858 141011858 41 NBL diagnosis snv P2RY14 missense F101L NM_001081455 30-PASAZJ P2RY14|MED12L MISSENSE|INTRON SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx -6 0.065 SQHIGH 10 37 47 0 27 27 Cosmic_Gene G G C G G TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 9934|116931 3 150931802 150931802 21 NBL diagnosis snv NFKB1 missense H433D NM_003998 30-PASAZJ NFKB1 MISSENSE SNP Somatic 1 0.147 SQHIGH 10 31 41 0 24 24 Cosmic_Gene C C G C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 4790 4 103516135 103516135 Somatic Illumina 22 21127 3775 24921 30039 9 30070 NBL diagnosis snv GLRA3 missense L217F NM_006529 30-PASAZJ GLRA3 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 9 0.430 SQHIGH 13 32 45 1 37 38 Cosmic_Gene C C A C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 8001 4 175604014 175604014 Somatic Illumina 30 11285 25877 37173 36382 1 36399 NBL diagnosis snv CTB-113P19.1 EXON E1_exon NM_003118 30-PASAZJ SPARC INTRON SNP Somatic -3 0.087 SQHIGH 18 45 63 0 29 29 Cosmic_Gene C C A C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 6678 5 151065452 151065452 34 NBL diagnosis snv RIMS1 silent Q1255Q NM_014989 30-PASAZJ RIMS1 SYNONYMOUS SNP Somatic -10 0.044 SQHIGH 5 49 54 0 36 36 Cosmic_Gene A A G A A TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 22999 6 73001664 73001664 11 NBL diagnosis snv HDDC2 missense E153V NM_016063 30-PASAZJ HDDC2 MISSENSE SNP Somatic PFAM:PF07514:TraI_2 2 0.168 SQHIGH 17 49 66 1 47 48 T T A T T TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 51020 6 125598307 125598307 Somatic Illumina 35 47317 30551 77962 96994 6 97118 NBL diagnosis snv NMBR missense R263C NM_002511 30-PASAZJ NMBR MISSENSE SNP Somatic PFAM:PF00001:7tm_1 12 0.591 SQHIGH 16 33 49 1 40 41 Cosmic_Gene G G A G G TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 4829 6 142397171 142397171 Somatic Illumina 38 72027 15076 87121 100764 34 100831 NBL diagnosis snv CALN1 missense L103V NM_031468 30-PASAZJ CALN1 MISSENSE SNP Somatic 3 0.192 SQHIGH 19 40 59 0 27 27 Cosmic_Gene G G C G G TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 83698 7 71571217 71571217 Somatic Illumina 36 24474 4828 29326 33957 8 33992 NBL diagnosis snv MOSPD3 missense L41V NM_023948 30-PASAZJ MOSPD3 MISSENSE SNP Somatic 11 0.532 SQHIGH 13 34 47 0 22 22 Cosmic_Gene C C G C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 64598 7 100210535 100210535 Somatic Illumina 24 63325 13941 77275 88243 2 88320 NBL diagnosis snv TES missense K88Q NM_015641 30-PASAZJ TES MISSENSE SNP Somatic 0 0.127 SQHIGH 10 48 58 0 32 32 A A C A A TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 26136 7 115889222 115889222 20 NBL diagnosis snv MET missense R359Q NM_001127500 30-PASAZJ MET MISSENSE SNP Somatic PFAM:PF01403:Sema 1 0.147 SQHIGH 16 68 84 0 45 45 Cosmic_Gene G G A G G TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 4233 7 116340214 116340214 Somatic Illumina 32 23118 4536 27666 36825 17 36855 NBL diagnosis snv VDAC3 missense S35C NM_005662 30-PASAZJ VDAC3 MISSENSE SNP Somatic 0 0.127 SQHIGH 9 27 36 0 31 31 Cosmic_Gene C C G C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 7419 8 42252638 42252638 27 NBL diagnosis snv NCBP1 missense T513S NM_002486 30-PASAZJ NCBP1 MISSENSE SNP Somatic PFAM:PF09090:MIF4G_like_2 -3 0.087 SQHIGH 11 32 43 0 27 27 Cosmic_Gene C C G C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 4686 9 100423288 100423288 Somatic Illumina 26 21412 4085 25512 21390 1 21396 NBL diagnosis snv SVEP1 silent P3126P NM_153366 30-PASAZJ SVEP1 SYNONYMOUS SNP Somatic PFAM:PF00084:Sushi -6 0.065 SQHIGH 11 30 41 0 41 41 Cosmic_Gene C C T C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 79987 9 113168502 113168502 36 NBL diagnosis snv PLA2G12B splice_region S100_E2splice_region NM_032562 30-PASAZJ PLA2G12B INTRON SNP Somatic -2 0.099 SQHIGH 12 68 80 1 41 42 Cosmic_Gene C C A C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 84647 10 74702400 74702400 16 NBL diagnosis snv KIAA1377 missense P823T NM_020802 30-PASAZJ KIAA1377 MISSENSE SNP Somatic 3 0.192 SQHIGH 11 47 58 0 51 51 Cosmic_Gene C C A C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 57562 11 101834233 101834233 Somatic Illumina 32 89901 21089 111124 138112 13 138253 NBL diagnosis snv PTPRQ missense V751A NM_001145026 30-PASAZJ PTPRQ MISSENSE SNP Somatic 0 0.127 SQHIGH 14 42 56 0 24 24 T T C T T TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 374462 12 80927883 80927883 Somatic Illumina 24 35872 6380 42278 51108 22 51161 NBL diagnosis snv UTP20 missense C232F NM_014503 30-PASAZJ UTP20 MISSENSE SNP Somatic -8 0.053 SQHIGH 7 31 38 0 39 39 Cosmic_Gene G G T G G TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 27340 12 101684012 101684012 23 NBL diagnosis snv C12orf42 silent P75P NM_198521 30-PASAZJ C12orf42 SYNONYMOUS SNP Somatic -7 0.059 SQHIGH 7 50 57 0 48 48 Cosmic_Gene A A T A A TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 374470 12 103762699 103762699 19 NBL diagnosis snv ACACB splice_region V828_E16splice_region NM_001093 30-PASAZJ ACACB ACCEPTOR SNP Somatic -1 0.112 SQHIGH 20 25 45 0 28 28 Cosmic_Gene C C T C C TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 32 12 109634806 109634806 Somatic Illumina 51 51283 7577 58865 59121 10 59135 NBL diagnosis snv GRTP1 missense R202G NM_001286733 30-PASAZJ GRTP1 SYNONYMOUS SNP Somatic -1 0.112 SQHIGH 7 23 30 0 15 15 G G C G G TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 79774 13 113978851 113978851 13 NBL diagnosis snv CTDSPL2 missense V320D NM_016396 30-PASAZJ CTDSPL2 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 3 0.192 SQHIGH 8 14 22 0 21 21 T T A T T TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 51496 15 44792001 44792001 27 NBL diagnosis snv CYP1A1 missense L217Q NM_000499 30-PASAZJ CYP1A1 MISSENSE SNP Somatic PFAM:PF00067:p450 4 0.220 SQHIGH 14 52 66 0 46 46 Cosmic_Gene A A T A A TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 1543 15 75014789 75014789 Somatic Illumina 35 121886 32947 154937 193592 3 193784 NBL diagnosis snv SYNRG missense Q57L NM_007247 30-PASAZJ SYNRG MISSENSE SNP Somatic 1 0.147 SQHIGH 14 39 53 0 24 24 Cosmic_Gene T T A T T TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 11276 17 35956340 35956340 Somatic Illumina 25 13289 44901 58261 61844 26 61903 NBL diagnosis snv CIDEA missense Q186H NM_001279 30-PASAZJ CIDEA MISSENSE,UTR SNP Somatic 0 0.127 SQHIGH 6 29 35 0 19 19 Cosmic_Gene G G T G G TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 1149 18 12277167 12277167 12 NBL diagnosis snv CLDN17 silent I144I NM_012131 30-PASAZJ CLDN17 SYNONYMOUS SNP Somatic PFAM:PF00822:PMP22_Claudin -10 0.044 SQHIGH 5 34 39 0 48 48 Cosmic_Gene G G A G G TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 26285 21 31538504 31538504 18 NBL diagnosis snv APOL5 silent K423K NM_030642 30-PASAZJ APOL5 SYNONYMOUS SNP Somatic 2 0.168 SQHIGH 17 40 57 0 44 44 G G A G G TARGET-30-PASAZJ-01A-01D TARGET-30-PASAZJ-10A-01D 80831 22 36124912 36124912 48 NBL diagnosis snv SDHB silent R12R NM_003000 30-PASBEN SDHB SYNONYMOUS SNP Somatic -3 0.087 SQHIGH 9 50 59 1 57 58 Cosmic_Gene G G T G G TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 6390 1 17380481 17380481 21 NBL diagnosis snv LHX8 missense E176K NM_001001933 30-PASBEN LHX8 MISSENSE SNP Somatic -6 0.068 SQHIGH 5 29 34 0 25 25 Cosmic_Gene G G A G G TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 431707 1 75608939 75608939 13 NBL diagnosis snv KCNAB1-AS1 EXON E2_exon NM_172160 30-PASBEN KCNAB1 INTRON SNP Somatic -1 0.105 SQHIGH 5 18 24 0 17 17 Cosmic_Gene T T C T T TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 7881 3 156159112 156159112 13 NBL diagnosis snv ADAM29 silent G491G NM_014269 30-PASBEN ADAM29 SYNONYMOUS SNP Somatic 2 0.146 SQHIGH 25 60 85 0 77 77 Cosmic_Gene C C A C C TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 11086 4 175898149 175898149 79 NBL diagnosis snv C6 splice S794_E17splice NM_000065 30-PASBEN C6 DISRUPT SNP Somatic 6 0.234 SQHIGH 17 43 60 0 58 58 Cosmic_Gene C C G C C TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 729 5 41149585 41149585 56 NBL diagnosis snv FSTL4 missense V450M NM_015082 30-PASBEN LOC100506120|FSTL4 INTRON|MISSENSE SNP Somatic -4 0.080 SQHIGH 16 55 71 2 71 73 Cosmic_Gene C C T C C TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 100506120|23105 5 132556550 132556550 36 NBL diagnosis snv ZNF713 missense K355I NM_182633 30-PASBEN ZNF713 MISSENSE SNP Somatic -8 0.057 SQHIGH 4 33 37 0 45 45 Cosmic_Gene A A T A A TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 349075 7 56007470 56007470 14 NBL diagnosis snv DOCK8 nonsense K1612* NM_203447 30-PASBEN DOCK8 NONSENSE SNP Somatic -1 0.105 SQHIGH 7 39 46 0 35 35 Cosmic_Gene A A T A A TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 81704 9 433923 433923 18 NBL diagnosis snv STOML2 splice_region Q193_E6splice_region NM_013442 30-PASBEN PIGO|STOML2 TSS-UPSTREAM|DONOR SNP Somatic 2 0.146 SQHIGH 15 61 76 0 60 60 Cosmic_Gene C C T C C TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 84720|30968 9 35101420 35101420 41 NBL diagnosis snv PARD3 missense R637P NM_019619 30-PASBEN PARD3 MISSENSE SNP Somatic 13 0.520 SQHIGH 14 20 34 0 22 22 Cosmic_Gene C C G C C TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 56288 10 34648232 34648232 36 NBL diagnosis snv NAALADL1 missense D324Y NM_005468 30-PASBEN NAALADL1 MISSENSE SNP Somatic 4 0.181 SQHIGH 43 66 109 2 69 71 C C A C C TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 10004 11 64821744 64821744 87 NBL diagnosis snv TBC1D30 silent L604L NM_015279 30-PASBEN TBC1D30 SYNONYMOUS SNP Somatic 2 0.146 SQHIGH 17 34 51 0 67 67 Cosmic_Gene G G T G G TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 23329 12 65269094 65269094 70 NBL diagnosis snv ACSM1 missense S370W NM_052956 30-PASBEN ACSM1 MISSENSE SNP Somatic 3 0.162 SQHIGH 8 46 54 2 55 57 Cosmic_Gene G G C G G TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 116285 16 20651790 20651790 14 NBL diagnosis snv RBM38 silent A194A NM_017495 30-PASBEN RBM38 UTR3,SYNONYMOUS SNP Somatic 3 0.162 SQHIGH 17 60 77 3 75 78 C C T C C TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 55544 20 55982764 55982764 32 NBL diagnosis snv BRD1 silent A535A NM_014577 30-PASBEN BRD1 SYNONYMOUS SNP Somatic -6 0.068 SQHIGH 3 8 11 0 19 19 Cosmic_Gene A A T A A TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 23774 22 50192687 50192687 14 NBL diagnosis mnv TTN missense V24124E NM_133378 30-PASBEN TTN|LOC100506866 MISSENSE|INTRON Sub Somatic -4 0.405 SQHIGH 12 67 79 3 68 71 Cosmic_Gene GA GA TT GA GA TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 7273|100506866 2 179430783 179430784 16 NBL diagnosis mnv FOXP4 missense Q188_L189>SW NM_001012426 30-PASBEN FOXP4 MISSENSE Sub Somatic 2 0.801 SQHIGH 9 25 34 1 25 26 Cosmic_Gene CAGTT CAGTT AGCTG CAGTT CAGTT TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 116113 6 41554798 41554802 17 NBL diagnosis mnv RNFT1 missense D128_T129>EA NM_016125 30-PASBEN RNFT1 MISSENSE Sub Somatic -5 0.375 SQHIGH 28 72 100 2 41 43 TA TA CC TA TA TARGET-30-PASBEN-01A-01D TARGET-30-PASBEN-10A-01D 51136 17 58040317 58040318 31 NBL diagnosis snv MAP3K19 missense Q918K NM_025052 30-PASCFC YSK4 INTRON,MISSENSE SNP Somatic -6 0.081 SQHIGH 7 35 42 0 39 39 Cosmic_Gene G G T G G TARGET-30-PASCFC-01A-01D TARGET-30-PASCFC-10A-01D 80122 2 135743690 135743690 21 NBL diagnosis snv DLX5 silent P273P NM_005221 30-PASCFC DLX5 SYNONYMOUS SNP Somatic -34 0.003 5 19 24 0 23 23 Cosmic_Gene C C G C C TARGET-30-PASCFC-01A-01D TARGET-30-PASCFC-10A-01D 1749 7 96650099 96650099 16 NBL diagnosis snv ABCA10 silent P1164P NM_080282 30-PASCFC ABCA10 SYNONYMOUS SNP Somatic -6 0.081 SQHIGH 4 19 23 0 36 36 Cosmic_Gene C C T C C TARGET-30-PASCFC-01A-01D TARGET-30-PASCFC-10A-01D 10349 17 67152030 67152030 17 NBL diagnosis snv ZNF574 missense T2P NM_022752 30-PASCFC ZNF574 MISSENSE SNP Somatic -1 0.129 SQHIGH 6 40 46 0 41 41 A A C A A TARGET-30-PASCFC-01A-01D TARGET-30-PASCFC-10A-01D 64763 19 42582762 42582762 17 NBL diagnosis snv ZNF574 nonsense E3* NM_022752 30-PASCFC ZNF574 NONSENSE SNP Somatic -4 0.096 SQHIGH 6 48 54 0 49 49 G G T G G TARGET-30-PASCFC-01A-01D TARGET-30-PASCFC-10A-01D 64763 19 42582765 42582765 17 NBL diagnosis snv CSMD2 missense E75D NM_052896 30-PASCKI CSMD2 MISSENSE SNP Somatic 7 0.317 SQHIGH 25 46 71 0 53 53 Cosmic_Gene C C G C C TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 114784 1 34554637 34554637 Somatic Illumina 70 38637 17345 55996 49581 4 49594 NBL diagnosis snv SERPINC1 missense A99E NM_000488 30-PASCKI SERPINC1 MISSENSE SNP Somatic -5 0.068 SQHIGH 12 85 97 0 74 74 Cosmic_Gene G G T G G TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 462 1 173883803 173883803 31 NBL diagnosis snv LOC100133077 EXON E3_exon NM_000718 30-PASCKI CACNA1B|LOC100133077 INTRON|UTR SNP Somatic 5 0.229 SQHIGH 17 34 51 0 27 27 Cosmic_Gene G G T G G TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 774|100133077 9 140785966 140785966 36 NBL diagnosis snv WDR11 missense I431F NM_018117 30-PASCKI WDR11 MISSENSE SNP Somatic 3 0.174 SQHIGH 12 32 44 0 34 34 A A T A A TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 55717 10 122626678 122626678 Somatic Illumina 33 47338 24170 71643 62640 9 62760 NBL diagnosis snv KDM5A missense P215Q NM_001042603 30-PASCKI KDM5A MISSENSE SNP Somatic -9 0.046 SQHIGH 6 43 49 0 41 41 Cosmic_Gene G G T G G TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 5927 12 472157 472157 16 NBL diagnosis snv SMCO3 missense S118L NM_001013698 30-PASCKI WBP11|C12orf69|C12orf60 TSS-UPSTREAM|MISSENSE|INTRON SNP Somatic 4 0.199 SQHIGH 30 50 80 0 65 65 Cosmic_Gene G G A G G TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 51729|440087|144608 12 14959262 14959262 Somatic Illumina 91 55842 23037 78915 69929 21 69990 NBL diagnosis snv WDR73 missense H347Q NM_032856 30-PASCKI WDR73 MISSENSE SNP Somatic 6 0.277 SQHIGH 15 36 51 0 41 41 G G C G G TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 84942 15 85186797 85186797 Somatic Illumina 43 103565 46749 150359 144287 2 144335 NBL diagnosis snv TRIM37 silent K254K NM_015294 30-PASCKI TRIM37 SYNONYMOUS SNP Somatic 7 0.317 SQHIGH 20 67 87 1 44 45 Cosmic_Gene C C T C C TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 4591 17 57148231 57148231 Somatic Illumina 30 49550 10730 60292 52129 31 52162 NBL diagnosis snv RFX1 missense A83T NM_002918 30-PASCKI RFX1 MISSENSE SNP Somatic -5 0.068 SQHIGH 8 5 13 0 9 9 Cosmic_Gene C C T C C TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 5989 19 14104409 14104409 BadAssay Illumina 24 22 0 22 1484 0 1486 NBL diagnosis snv CEACAM5 missense W67R NM_004363 30-PASCKI CEACAM5 MISSENSE SNP Somatic PFAM:PF07686:V-set 6 0.277 SQHIGH 21 34 55 1 34 35 Cosmic_Gene T T A T T TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 1048 19 42213733 42213733 Somatic Illumina 42 58488 26083 84659 98234 38 98361 NBL diagnosis snv MYCN missense P44L NM_005378 30-PASCTR MYCNOS|MYCN TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01056:Myc_N -5 0.077 SQHIGH 13 12 25 0 22 22 COSMIC:mut:35624 Cosmic_Gene C C T C C TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 10408|4613 2 16082317 16082317 44 NBL diagnosis snv MPHOSPH10 missense K189Q NM_005791 30-PASCTR MCEE|MPHOSPH10 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF04006:Mpp10 6 0.226 SQHIGH 6 25 31 0 24 24 Cosmic_Gene A A C A A TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 84693|10199 2 71360503 71360503 16 NBL diagnosis snv OR9A4 nonsense K296* NM_001001656 30-PASCTR OR9A4 NONSENSE SNP Somatic -1 0.112 SQHIGH 13 15 28 0 27 27 Cosmic_Gene A A T A A TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 130075 7 141619561 141619561 46 NBL diagnosis snv TNC missense F1012L NM_002160 30-PASCTR TNC MISSENSE SNP Somatic -6 0.072 SQHIGH 7 26 33 1 36 37 Cosmic_Gene A A G A A TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 3371 9 117836062 117836062 17 NBL diagnosis snv OR5I1 silent L117L NM_006637 30-PASCTR OR5I1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 1 0.136 SQHIGH 10 40 50 0 49 49 Cosmic_Gene G G A G G TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 10798 11 55703528 55703528 32 NBL diagnosis snv PGM2L1 missense R620H NM_173582 30-PASCTR PGM2L1 MISSENSE SNP Somatic 12 0.430 SQHIGH 8 15 23 0 27 27 Cosmic_Gene C C T C C TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 283209 11 74047707 74047707 30 NBL diagnosis snv HEATR5A missense A477T NM_015473 30-PASCTR HEATR5A MISSENSE SNP Somatic -4 0.085 SQHIGH 5 13 18 0 12 12 Cosmic_Gene C C T C C TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 25938 14 31852894 31852894 12 NBL diagnosis snv KIAA0753 nonsense R781* NM_014804 30-PASCTR KIAA0753 NONSENSE SNP Somatic 10 0.344 SQHIGH 13 15 28 0 17 17 G G A G G TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 9851 17 6499495 6499495 33 NBL diagnosis snv ENDOV silent G94G NM_173627 30-PASCTR ENDOV SYNONYMOUS,INTRON SNP Somatic 14 0.557 SQHIGH 11 14 25 0 23 23 Cosmic_Gene C C A C C TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 284131 17 78395681 78395681 37 NBL diagnosis snv GABRD missense M354K NM_000815 30-PASCUF GABRD MISSENSE SNP Somatic PFAM:PF02932:Neur_chan_memb 2 0.182 SQHIGH 17 55 72 0 40 40 Cosmic_Gene T T A T T TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 2563 1 1961423 1961423 36 NBL diagnosis snv PDE4B silent T535T NM_002600 30-PASCUF PDE4B SYNONYMOUS SNP Somatic PFAM:PF00233:PDEase_I PFAM:PF07514:TraI_2 7 0.317 SQHIGH 9 24 33 0 32 32 Cosmic_Gene G G A G G TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 5142 1 66833691 66833691 29 NBL diagnosis snv UTRN missense M2528L NM_007124 30-PASCUF UTRN MISSENSE SNP Somatic 7 0.317 SQHIGH 8 14 22 0 21 21 Cosmic_Gene A A T A A TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 7402 6 144999644 144999644 27 NBL diagnosis snv MICALL2 silent P519P NM_182924 30-PASCUF MICALL2 SYNONYMOUS SNP Somatic -1 0.132 SQHIGH 8 39 47 0 21 21 Cosmic_Gene C C T C C TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 79778 7 1481982 1481982 14 NBL diagnosis snv MLLT3 splice R444_E7splice NM_004529 30-PASCUF MLLT3 DISRUPT SNP Somatic 0 0.146 SQHIGH 5 33 38 0 37 37 Cosmic_Gene A A G A A TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 4300 9 20363472 20363472 15 NBL diagnosis snv RASA3 silent D220D NM_007368 30-PASCUF RASA3 SYNONYMOUS SNP Somatic 0 0.146 SQHIGH 14 48 62 0 62 62 Cosmic_Gene G G A G G TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 22821 13 114789775 114789775 46 NBL diagnosis snv SERINC4 missense R50G NM_001258031 30-PASCUF SERINC4|SERF2-C15ORF63|C15orf63 UTR5|INTRON|TSS-UPSTREAM SNP Somatic 2 0.182 SQHIGH 6 28 34 1 62 63 T T C T T TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 619189|100529067|25764 15 44091639 44091639 22 NBL diagnosis snv MUC16 missense L7829M NM_024690 30-PASCUF MUC16 MISSENSE SNP Somatic 7 0.317 SQHIGH 20 61 81 0 66 66 Cosmic_Gene G G T G G TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 94025 19 9063961 9063961 57 NBL diagnosis snv OR10H2 missense C127F NM_013939 30-PASCUF OR10H2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -9 0.065 SQHIGH 9 47 56 0 44 44 Cosmic_Gene G G T G G TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 26538 19 15839233 15839233 24 NBL diagnosis snv NAPB missense D150Y NM_022080 30-PASCUF NAPB MISSENSE SNP Somatic 2 0.182 SQHIGH 4 19 23 0 37 37 Cosmic_Gene C C A C C TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 63908 20 23370874 23370874 17 NBL diagnosis snv DEPDC5 missense R674H NM_014662 30-PASCUF DEPDC5 INTRON,MISSENSE SNP Somatic 1 0.163 SQHIGH 14 68 82 0 69 69 Cosmic_Gene G G A G G TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 9681 22 32218693 32218693 40 NBL diagnosis snv SCNN1D missense G244R NM_001130413 30-PASEGA SCNN1D MISSENSE,UTR SNP Somatic PFAM:PF00858:ASC 2 0.127 SQHIGH 7 15 22 0 19 19 G G A G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 6339 1 1221477 1221477 21 NBL diagnosis snv NPPB silent A35A NM_002521 30-PASEGA NPPB SYNONYMOUS SNP Somatic 6 0.195 SQHIGH 4 20 24 0 31 31 Cosmic_Gene G G C G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 4879 1 11918786 11918786 15 NBL diagnosis snv CACHD1 missense S1138A NM_020925 30-PASEGA CACHD1 MISSENSE SNP Somatic 12 0.393 SQHIGH 15 33 48 0 62 62 Cosmic_Gene T T G T T TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 57685 1 65147768 65147768 60 NBL diagnosis snv IGSF3 missense D1143E NM_001542 30-PASEGA IGSF3 MISSENSE SNP Somatic 7 0.219 SQHIGH 17 56 73 0 64 64 Cosmic_Gene G G C G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 3321 1 117120150 117120150 51 NBL diagnosis snv SPTA1 nonsense E2157* NM_003126 30-PASEGA SPTA1 NONSENSE SNP Somatic -3 0.081 SQHIGH 12 63 75 0 65 65 Cosmic_Gene C C A C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 6708 1 158589073 158589073 34 NBL diagnosis snv SPTA1 silent V31V NM_003126 30-PASEGA SPTA1 SYNONYMOUS SNP Somatic -2 0.088 SQHIGH 7 27 34 0 23 23 Cosmic_Gene C C G C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 6708 1 158655069 158655069 17 NBL diagnosis snv OR14A16 missense L4P NM_001001966 30-PASEGA OR14A16 MISSENSE SNP Somatic -10 0.050 SQHIGH 8 34 42 1 34 35 A A G A A TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 284532 1 247979021 247979021 15 NBL diagnosis snv IMMT missense A424S NM_006839 30-PASEGA IMMT MISSENSE SNP Somatic PFAM:PF09731:Mitofilin 10 0.306 SQHIGH 11 29 40 1 36 37 Cosmic_Gene C C A C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 10989 2 86378551 86378551 26 NBL diagnosis snv SCN3A missense C1173R NM_006922 30-PASEGA SCN3A MISSENSE SNP Somatic PFAM:PF06512:Na_trans_assoc -6 0.066 SQHIGH 4 24 28 0 46 46 Cosmic_Gene A A G A A TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 6328 2 165970478 165970478 17 NBL diagnosis snv SF3B1 missense L1065I NM_012433 30-PASEGA SF3B1 MISSENSE SNP Somatic -6 0.066 SQHIGH 8 9 17 0 17 17 Cosmic_Gene G G T G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 23451 2 198262782 198262782 29 NBL diagnosis snv ALS2CR12 silent H299H NM_139163 30-PASEGA ALS2CR12 SYNONYMOUS SNP Somatic -2 0.088 SQHIGH 5 19 24 2 44 46 Cosmic_Gene A A G A A TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 130540 2 202164006 202164006 14 NBL diagnosis snv EGOT EXON E41_exon NM_001099952 30-PASEGA EGOT|ITPR1 UTR|INTRON SNP Somatic -7 0.061 SQHIGH 8 33 41 2 41 43 Cosmic_Gene T T C T T TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 100126791|3708 3 4791523 4791523 14 NBL diagnosis snv ERC2-IT1 EXON E16_exon NM_015576 30-PASEGA ERC2|C3orf51 INTRON|UTR SNP Somatic 5 0.169 SQHIGH 13 45 58 0 57 57 Cosmic_Gene G G A G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 26059|711 3 55691912 55691912 42 NBL diagnosis snv FRYL missense G797D NM_015030 30-PASEGA FRYL MISSENSE SNP Somatic -1 0.096 SQHIGH 5 26 31 0 34 34 Cosmic_Gene C C T C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 285527 4 48581128 48581128 17 NBL diagnosis snv CNOT6 silent K438K NM_015455 30-PASEGA CNOT6 SYNONYMOUS SNP Somatic 5 0.169 SQHIGH 7 28 35 0 36 36 G G A G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 57472 5 179998285 179998285 23 NBL diagnosis snv FZD6 missense H568R NM_003506 30-PASEGA FZD6 MISSENSE SNP Somatic 3 0.139 SQHIGH 6 26 32 0 36 36 Cosmic_Gene A A G A A TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 8323 8 104342044 104342044 21 NBL diagnosis snv TGFBR1 missense F393L NM_004612 30-PASEGA TGFBR1 MISSENSE SNP Somatic PFAM:PF00069:Pkinase PFAM:PF03109:ABC1 7 0.219 SQHIGH 16 36 52 0 59 59 Cosmic_Gene T T G T T TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 7046 9 101908815 101908815 59 NBL diagnosis snv TGFBR1 missense D400H NM_004612 30-PASEGA TGFBR1 MISSENSE SNP Somatic PFAM:PF00069:Pkinase PFAM:PF03109:ABC1 17 0.835 SQHIGH 17 31 48 0 49 49 Cosmic_Gene G G C G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 7046 9 101908834 101908834 59 NBL diagnosis snv HEPACAM splice_region R237_E3splice_region NM_152722 30-PASEGA HEPACAM DONOR SNP Somatic 6 0.195 SQHIGH 20 48 68 0 100 100 Cosmic_Gene C C G C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 220296 11 124793620 124793620 87 NBL diagnosis snv ING4 missense G210S NM_016162 30-PASEGA ACRBP|ING4 TSS-UPSTREAM|INTRON,MISSENSE SNP Somatic 6 0.195 SQHIGH 17 37 54 0 46 46 Cosmic_Gene C C T C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 84519|51147 12 6761454 6761454 51 NBL diagnosis snv HELB splice_region K766_E9splice_region NM_033647 30-PASEGA HELB DONOR SNP Somatic -1 0.096 SQHIGH 5 12 17 0 32 32 Cosmic_Gene G G C G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 92797 12 66716568 66716568 25 NBL diagnosis snv COX6A1 missense R15W NM_004373 30-PASEGA COX6A1 MISSENSE SNP Somatic -10 0.050 SQHIGH 5 21 26 0 30 30 C C T C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 1337 12 120875972 120875972 18 NBL diagnosis snv DGKH silent P851P NM_152910 30-PASEGA DGKH SYNONYMOUS SNP Somatic PFAM:PF00609:DAGK_acc 4 0.153 SQHIGH 8 13 21 1 27 28 Cosmic_Gene C C A C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 160851 13 42780234 42780234 25 NBL diagnosis snv RNF31 missense D755Y NM_017999 30-PASEGA RNF31 MISSENSE SNP Somatic 7 0.219 SQHIGH 18 42 60 0 64 64 Cosmic_Gene G G T G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 55072 14 24624498 24624498 63 NBL diagnosis snv MTHFSD silent V138V NM_001159377 30-PASEGA MTHFSD SYNONYMOUS,UTR SNP Somatic PFAM:PF01812:5-FTHF_cyc-lig 6 0.195 SQHIGH 17 35 52 0 41 41 C C G C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 64779 16 86580193 86580193 49 NBL diagnosis snv SMIM6 missense V44M NM_001162997 30-PASEGA C17orf110|RECQL5 MISSENSE|INTRON SNP Somatic -2 0.088 SQHIGH 19 91 110 0 55 55 Cosmic_Gene G G A G G TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 100130933|9400 17 73643586 73643586 36 NBL diagnosis snv FZR1 missense T233N NM_001136198 30-PASEGA FZR1 MISSENSE SNP Somatic 4 0.153 SQHIGH 26 45 71 1 79 80 Cosmic_Gene C C A C C TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 51343 19 3530833 3530833 86 NBL diagnosis snv MUC16 missense N5863H NM_024690 30-PASEGA MUC16 MISSENSE SNP Somatic 5 0.169 SQHIGH 12 42 55 0 48 48 Cosmic_Gene T T G T T TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 94025 19 9069859 9069859 36 NBL diagnosis mnv BCAN missense E385_T386>DS NM_021948 30-PASEGA BCAN MISSENSE Sub Somatic -2 0.466 SQHIGH 21 63 84 0 64 64 Cosmic_Gene GA GA TT GA GA TARGET-30-PASEGA-01A-01D TARGET-30-PASEGA-10A-01D 63827 1 156621339 156621340 57 NBL diagnosis snv GJB3 missense I92T NM_024009 30-PASFGG GJB3 MISSENSE SNP Somatic PFAM:PF00029:Connexin 3 0.142 SQHIGH 4 23 27 0 30 30 T T C T T TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 2707 1 35250638 35250638 14 NBL diagnosis snv VAV3 silent V23V NM_006113 30-PASFGG VAV3 SYNONYMOUS SNP Somatic 0 0.107 SQHIGH 7 29 36 0 28 28 Cosmic_Gene C C T C C TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 10451 1 108507423 108507423 19 NBL diagnosis snv LRRN1 missense L268V NM_020873 30-PASFGG LRRN1 MISSENSE SNP Somatic 6 0.198 SQHIGH 7 31 38 0 63 63 Cosmic_Gene T T G T T TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 57633 3 3887127 3887127 31 NBL diagnosis snv GORASP1 missense G424W NM_031899 30-PASFGG GORASP1 MISSENSE SNP Somatic -6 0.067 SQHIGH 7 36 43 0 52 52 Cosmic_Gene C C A C C TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 64689 3 39139780 39139780 25 NBL diagnosis snv UPK1B silent R85R NM_006952 30-PASFGG UPK1B SYNONYMOUS SNP Somatic PFAM:PF00335:Tetraspannin 1 0.119 SQHIGH 6 18 24 0 26 26 G G A G G TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 7348 3 118906807 118906807 21 NBL diagnosis snv OR14J1 missense E256D NM_030946 30-PASFGG OR14J1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 4 0.156 SQHIGH 12 49 61 0 52 52 Cosmic_Gene G G T G G TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 442191 6 29275234 29275234 35 NBL diagnosis snv TRAF3IP2 missense P28S NM_147686 30-PASFGG TRAF3IP2|TRAF3IP2-AS1 MISSENSE,UTR|INTRON SNP Somatic -4 0.077 SQHIGH 12 58 70 0 54 54 Cosmic_Gene G G A G G TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 10758|643749 6 111913208 111913208 32 NBL diagnosis snv USP6NL missense N478H NM_014688 30-PASFGG USP6NL MISSENSE SNP Somatic 7 0.221 SQHIGH 18 59 77 0 69 69 T T G T T TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 9712 10 11505495 11505495 55 NBL diagnosis snv SYTL2 missense S50G NM_001162951 30-PASFGG SYTL2 MISSENSE SNP Somatic -6 0.067 SQHIGH 5 13 18 0 32 32 Cosmic_Gene T T C T T TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 54843 11 85459420 85459420 24 NBL diagnosis snv DCT silent A148A NM_001922 30-PASFGG DCT SYNONYMOUS SNP Somatic -1 0.099 SQHIGH 8 36 44 0 54 54 Cosmic_Gene C C T C C TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 1638 13 95121151 95121151 29 NBL diagnosis snv BPTF silent P2109P NM_182641 30-PASFGG BPTF SYNONYMOUS SNP Somatic -2 0.090 SQHIGH 7 32 39 0 31 31 Cosmic_Gene T T C T T TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 2186 17 65936622 65936622 19 NBL diagnosis snv RNF125 silent G53G NM_017831 30-PASFGG RNF125 SYNONYMOUS SNP Somatic 2 0.129 SQHIGH 7 29 36 1 37 38 C C A C C TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 54941 18 29598985 29598985 16 NBL diagnosis snv NFATC1 splice P653P NM_172390 30-PASFGG NFATC1 SYNONYMOUS SNP Somatic 12 0.391 SQHIGH 18 29 47 0 52 52 Cosmic_Gene G G A G G TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 4772 18 77221366 77221366 67 NBL diagnosis snv PSENEN silent L29L NM_172341 30-PASFGG U2AF1L4|IGFLR1|PSENEN|LIN37 TSS-UPSTREAM|TSS-UPSTREAM|SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF10251:PEN-2 -7 0.062 SQHIGH 16 75 91 0 87 87 Cosmic_Gene C C A C C TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 199746|79713|55851|55957 19 36237345 36237345 50 NBL diagnosis snv CRNKL1 missense R361L NM_016652 30-PASFGG C20orf26|CRNKL1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF02184:HAT -3 0.082 SQHIGH 6 29 35 0 43 43 Cosmic_Gene C C A C C TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 26074|51340 20 20028432 20028432 22 NBL diagnosis snv TOP1P2 EXON E1_exon NM_001008496 30-PASFGG PIWIL3|TOP1P2 INTRON|UTR SNP Somatic 7 0.221 SQHIGH 7 21 28 0 25 25 Cosmic_Gene T T C T T TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 440822|7152 22 25160692 25160692 21 NBL diagnosis snv HCFC1 splice_region G1648_E20splice_region NM_005334 30-PASFGG HCFC1 ACCEPTOR SNP Somatic 10 0.305 SQHIGH 9 23 32 0 50 50 Cosmic_Gene T T C T T TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 3054 X 153217614 153217614 40 NBL diagnosis snv OPN1LW missense A298P NM_020061 30-PASFGG OPN1LW MISSENSE SNP dbsnp.86:rs1065440 Somatic PFAM:PF00001:7tm_1 -30 0.007 6 37 43 0 41 41 G G C G G TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 5956 X 153421916 153421916 18 NBL diagnosis mnv FOXK1 missense H514_V515>PP NM_001037165 30-PASFGG FOXK1 MISSENSE Sub Somatic -10 0.255 SQHIGH 5 13 18 0 21 21 Cosmic_Gene ACGT ACGT CCCC ACGT ACGT TARGET-30-PASFGG-01A-01D TARGET-30-PASFGG-10A-01D 221937 7 4799071 4799074 18 NBL diagnosis snv PPP6C missense T187K NM_001123355 30-PASFIC PPP6C MISSENSE SNP Somatic 1 0.174 SQHIGH 4 25 29 0 33 33 Cosmic_Gene G G T G G TARGET-30-PASFIC-01A-01D TARGET-30-PASFIC-10A-01D 5537 9 127916195 127916195 14 NBL diagnosis snv FSIP2 missense I3211T NM_173651 30-PASGAP FSIP2 MISSENSE SNP Somatic -8 0.062 SQHIGH 7 35 42 0 32 32 T T C T T TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 401024 2 186661228 186661228 18 NBL diagnosis snv BSN missense P325Q NM_003458 30-PASGAP BSN MISSENSE SNP Somatic 2 0.164 SQHIGH 7 18 25 0 25 25 Cosmic_Gene C C A C C TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 8927 3 49680041 49680041 23 NBL diagnosis snv PIK3CA nonsense E888* NM_006218 30-PASGAP PIK3CA NONSENSE SNP Somatic -1 0.121 SQHIGH 7 26 33 0 39 39 Cosmic_Gene G G T G G TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 5290 3 178947226 178947226 25 NBL diagnosis snv TINAG silent V302V NM_014464 30-PASGAP TINAG SYNONYMOUS SNP Somatic -4 0.088 SQHIGH 4 10 14 0 19 19 Cosmic_Gene A A T A A TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 27283 6 54214520 54214520 16 NBL diagnosis snv HCRTR2 splice_region G216_E3splice_region NM_001526 30-PASGAP HCRTR2 DONOR SNP Somatic 12 0.460 SQHIGH 8 16 24 0 32 32 Cosmic_Gene A A T A A TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 3062 6 55120181 55120181 33 NBL diagnosis snv SEC61A2 missense V327I NM_018144 30-PASGAP SEC61A2 MISSENSE,UTR SNP Somatic PFAM:PF00344:SecY 3 0.180 SQHIGH 6 20 26 0 26 26 Cosmic_Gene G G A G G TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 55176 10 12202932 12202932 19 NBL diagnosis snv ST5 silent P388P NM_005418 30-PASGAP ST5 SYNONYMOUS,INTRON SNP Somatic -2 0.109 SQHIGH 15 22 37 0 30 30 Cosmic_Gene G G T G G TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 6764 11 8751673 8751673 46 NBL diagnosis snv ZC3H12C missense N468K NM_033390 30-PASGAP ZC3H12C MISSENSE SNP Somatic 13 0.524 SQHIGH 8 15 23 1 45 46 C C A C C TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 85463 11 110035214 110035214 34 NBL diagnosis snv SLC30A4 nonsense G280* NM_013309 30-PASGAP SLC30A4 NONSENSE SNP Somatic PFAM:PF01545:Cation_efflux -4 0.088 SQHIGH 5 14 19 0 19 19 C C A C C TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 7782 15 45781095 45781095 16 NBL diagnosis snv MTCL1 missense G376W NM_015210 30-PASGAP MTCL1 MISSENSE SNP Somatic 4 0.199 SQHIGH 8 10 18 0 18 18 Cosmic_Gene G G T G G TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 23255 18 8784236 8784236 28 NBL relapse snv ZMYM1 nonsense E300* NM_024772 30-PASGAP ZMYM1 NONSENSE SNP Somatic 3 0.188 SQHIGH 4 8 12 0 16 16 G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 79830 1 35575985 35575985 16 NBL relapse snv COL24A1 missense G525C NM_152890 30-PASGAP COL24A1 MISSENSE SNP Somatic 11 0.415 SQHIGH 8 18 26 0 26 26 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 255631 1 86578276 86578276 27 NBL relapse snv STXBP3 splice E483E NM_007269 30-PASGAP STXBP3 SYNONYMOUS SNP Somatic PFAM:PF00995:Sec1 2 0.172 SQHIGH 7 10 17 0 33 33 Cosmic_Gene G G A G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 6814 1 109340859 109340859 37 NBL relapse snv IGFN1 missense A1107G NM_001164586 30-PASGAP IGFN1 MISSENSE SNP Somatic 6 0.251 SQHIGH 25 38 63 0 53 53 Cosmic_Gene C C G C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 91156 1 201177341 201177341 78 NBL relapse snv PKP1 missense A655S NM_001005337 30-PASGAP PKP1 MISSENSE SNP Somatic 15 0.662 SQHIGH 11 15 26 1 28 29 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 5317 1 201294197 201294197 33 NBL relapse snv TMEM81 missense R118Q NM_203376 30-PASGAP TMEM81 MISSENSE SNP dbsnp.134:rs146591308 Somatic 17 0.821 SQHIGH 23 14 37 0 28 28 C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 388730 1 205053096 205053096 76 NBL relapse snv PM20D1 silent G446G NM_152491 30-PASGAP PM20D1 SYNONYMOUS SNP Somatic 15 0.662 SQHIGH 14 18 32 0 35 35 Cosmic_Gene G G A G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 148811 1 205799455 205799455 53 NBL relapse snv KIAA1804 silent V939V NM_032435 30-PASGAP KIAA1804 SYNONYMOUS SNP Somatic 19 0.966 SQHIGH 16 13 29 0 36 36 Cosmic_Gene C C G C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 84451 1 233518163 233518163 70 NBL relapse snv OR2B11 missense L220I NM_001004492 30-PASGAP OR2B11 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 11 0.415 SQHIGH 16 27 43 0 48 48 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 127623 1 247614627 247614627 60 NBL relapse snv OR2T1 silent T101T NM_030904 30-PASGAP OR2T1 SYNONYMOUS SNP Somatic 8 0.305 SQHIGH 12 28 40 1 35 36 Cosmic_Gene A A C A A TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 26696 1 248569598 248569598 29 NBL relapse snv ROCK2 splice I445_E12splice NM_004850 30-PASGAP ROCK2 DISRUPT SNP Somatic 11 0.415 SQHIGH 9 13 22 0 21 21 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 9475 2 11357296 11357296 31 NBL relapse snv DNMT3A splice F827_E22splice NM_175629 30-PASGAP DNMT3A DISRUPT SNP Somatic 2 0.172 SQHIGH 10 35 45 0 43 43 Cosmic_Gene C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 1788 2 25458695 25458695 32 NBL relapse snv POLR1A silent L351L NM_015425 30-PASGAP POLR1A SYNONYMOUS SNP Somatic PFAM:PF00623:RNA_pol_Rpb1_2 PFAM:PF04997:RNA_pol_Rpb1_1 12 0.463 SQHIGH 18 27 45 0 36 36 Cosmic_Gene C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 25885 2 86307972 86307972 54 NBL relapse snv MYO7B silent G161G NM_001080527 30-PASGAP MYO7B SYNONYMOUS SNP Somatic PFAM:PF00225:Kinesin 14 0.595 SQHIGH 11 17 28 0 31 31 Cosmic_Gene G G C G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 4648 2 128327376 128327376 41 NBL relapse snv LY75 missense P1478Q NM_002349 30-PASGAP LY75|LY75-CD302 MISSENSE|MISSENSE SNP Somatic 13 0.526 SQHIGH 8 12 20 0 28 28 G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 4065|100526664 2 160672032 160672032 35 NBL relapse snv SCN2A missense A1841G NM_021007 30-PASGAP SCN2A MISSENSE SNP Somatic 8 0.305 SQHIGH 16 13 29 0 21 21 Cosmic_Gene C C G C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 6326 2 166245838 166245838 49 NBL relapse snv FSIP2 missense I3211T NM_173651 30-PASGAP FSIP2 MISSENSE SNP Somatic 5 0.229 SQHIGH 18 37 55 0 32 32 T T C T T TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 401024 2 186661228 186661228 41 NBL relapse snv FARSB splice T203_E7splice NM_005687 30-PASGAP FARSB DISRUPT SNP Somatic 14 0.595 SQHIGH 13 17 30 0 37 37 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 10056 2 223498027 223498027 53 NBL relapse snv UGT1A1 nonsense R523* NM_000463 30-PASGAP UGT1A1|UGT1A4|UGT1A9|UGT1A10|UGT1A6|UGT1A8|UGT1A7|UGT1A5|HEATR7B1|UGT1A3 NONSENSE|NONSENSE|NONSENSE|NONSENSE|NONSENSE|NONSENSE|NONSENSE|NONSENSE|TSS-UPSTREAM|NONSENSE SNP Somatic PFAM:PF00201:UDPGT 18 0.899 SQHIGH 14 16 30 0 38 38 Cosmic_Gene C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 54658|54657|54600|54575|54578|54576|54577|54579|339766|54659 2 234681170 234681170 59 NBL relapse snv CNTN6 silent V718V NM_014461 30-PASGAP CNTN6 SYNONYMOUS SNP Somatic 15 0.662 SQHIGH 13 17 30 0 26 26 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 27255 3 1418747 1418747 42 NBL relapse snv FAM198A missense W370S NM_001129908 30-PASGAP FAM198A MISSENSE SNP Somatic 9 0.339 SQHIGH 12 27 40 0 38 38 G G C G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 729085 3 43074864 43074864 40 NBL relapse snv CELSR3 missense A48T NM_001407 30-PASGAP CELSR3 MISSENSE SNP Somatic 3 0.188 SQHIGH 8 8 16 0 14 14 Cosmic_Gene C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 1951 3 48699926 48699926 27 NBL relapse snv BSN missense P325Q NM_003458 30-PASGAP BSN MISSENSE SNP Somatic 3 0.188 SQHIGH 12 21 33 0 25 25 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 8927 3 49680041 49680041 34 NBL relapse snv UBA7 missense K804N NM_003335 30-PASGAP UBA7 MISSENSE SNP Somatic 10 0.373 SQHIGH 16 14 30 0 34 34 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 7318 3 49845837 49845837 65 NBL relapse snv PAQR9 missense A208D NM_198504 30-PASGAP PAQR9 MISSENSE SNP Somatic PFAM:PF03006:HlyIII 7 0.277 SQHIGH 10 16 26 0 22 22 G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 344838 3 142681556 142681556 31 NBL relapse snv SERPINI2 missense P392T NM_006217 30-PASGAP SERPINI2 MISSENSE SNP Somatic PFAM:PF00079:Serpin 9 0.339 SQHIGH 8 11 19 0 22 22 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 5276 3 167159941 167159941 31 NBL relapse snv PIK3CA nonsense E888* NM_006218 30-PASGAP PIK3CA NONSENSE SNP Somatic 12 0.463 SQHIGH 16 33 49 0 39 39 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 5290 3 178947226 178947226 46 NBL relapse snv DCAF4L1 missense H269P NM_001029955 30-PASGAP DCAF4L1 MISSENSE SNP Somatic PFAM:PF00400:WD40 1 0.157 SQHIGH 3 12 15 0 27 27 Cosmic_Gene A A C A A TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 285429 4 41984615 41984615 14 NBL relapse snv CORIN missense A708D NM_006587 30-PASGAP CORIN MISSENSE SNP Somatic PFAM:PF00530:SRCR -3 0.108 SQHIGH 11 5 16 0 25 25 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 10699 4 47644012 47644012 59 NBL relapse snv FRYL missense D2459E NM_015030 30-PASGAP FRYL MISSENSE SNP Somatic -1 0.130 SQHIGH 16 5 21 1 28 29 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 285527 4 48525062 48525062 72 NBL relapse snv TMPRSS11F missense P416H NM_207407 30-PASGAP TMPRSS11F MISSENSE SNP Somatic 5 0.229 SQHIGH 13 27 40 0 36 36 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 389208 4 68919697 68919697 41 NBL relapse snv UGT2A3 missense D82E NM_024743 30-PASGAP UGT2A3 MISSENSE,UTR SNP Somatic PFAM:PF00201:UDPGT -4 0.098 SQHIGH 18 24 42 0 49 49 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 79799 4 69817233 69817233 71 NBL relapse snv TLL1 missense P484T NM_012464 30-PASGAP TLL1 MISSENSE SNP Somatic 14 0.595 SQHIGH 10 23 33 0 28 28 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 7092 4 166964497 166964497 30 NBL relapse snv CMYA5 missense G1795D NM_153610 30-PASGAP CMYA5 MISSENSE SNP Somatic 9 0.339 SQHIGH 20 19 39 1 44 45 Cosmic_Gene G G A G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 202333 5 79029972 79029972 70 NBL relapse snv KIF3A missense K182R NM_007054 30-PASGAP KIF3A MISSENSE SNP Somatic 4 0.206 SQHIGH 9 24 33 0 27 27 Cosmic_Gene T T C T T TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 11127 5 132056372 132056372 26 NBL relapse snv SH3TC2 missense L676F NM_024577 30-PASGAP SH3TC2 MISSENSE SNP Somatic 6 0.251 SQHIGH 18 36 54 0 57 57 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 79628 5 148407267 148407267 64 NBL relapse snv HCRTR2 splice_region G216_E3splice_region NM_001526 30-PASGAP HCRTR2 DONOR SNP Somatic 14 0.595 SQHIGH 9 16 25 0 32 32 Cosmic_Gene A A T A A TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 3062 6 55120181 55120181 36 NBL relapse snv NR2E1 missense V30I NM_003269 30-PASGAP NR2E1 MISSENSE SNP Somatic -2 0.117 SQHIGH 9 14 23 0 17 17 Cosmic_Gene G G A G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 7101 6 108492724 108492724 25 NBL relapse snv ANKMY2 silent A192A NM_020319 30-PASGAP ANKMY2 SYNONYMOUS SNP Somatic -8 0.069 SQHIGH 9 16 25 0 27 27 Cosmic_Gene T T G T T TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 57037 7 16650344 16650344 33 NBL relapse snv NPC1L1 missense A195D NM_013389 30-PASGAP NPC1L1 MISSENSE SNP Somatic 8 0.305 SQHIGH 15 27 42 0 29 29 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 29881 7 44579412 44579412 40 NBL relapse snv GS1-259H13.2 missense F145L NM_001195541 30-PASGAP GS1-259H13.2 MISSENSE SNP Somatic 5 0.229 SQHIGH 16 40 56 0 43 43 C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 100289187 7 99205375 99205375 44 NBL relapse snv CYP3A7 missense E374D NM_000765 30-PASGAP CYP3A7 MISSENSE SNP Somatic PFAM:PF00067:p450 6 0.251 SQHIGH 18 45 63 0 30 30 Cosmic_Gene C C G C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 1551 7 99306789 99306789 34 NBL relapse snv LRGUK nonsense E778* NM_144648 30-PASGAP LRGUK NONSENSE SNP Somatic 9 0.339 SQHIGH 16 32 48 0 26 26 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 136332 7 133943142 133943142 35 NBL relapse snv ABCF2 splice_region T273_E6splice_region NM_007189 30-PASGAP ABCF2 DONOR SNP Somatic 1 0.157 SQHIGH 11 43 54 0 36 36 Cosmic_Gene T T C T T TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 10061 7 150919601 150919601 26 NBL relapse snv TAF1L missense P1000Q NM_153809 30-PASGAP TAF1L MISSENSE SNP Somatic PFAM:PF12157:DUF3591 12 0.463 SQHIGH 13 23 36 1 33 34 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 138474 9 32632579 32632579 34 NBL relapse snv ZNF484 missense H738D NM_031486 30-PASGAP ZNF484 MISSENSE SNP Somatic 5 0.229 SQHIGH 12 17 29 0 31 31 G G C G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 83744 9 95608857 95608857 44 NBL relapse snv C9orf3 missense A314S NM_032823 30-PASGAP C9orf3 MISSENSE SNP Somatic PFAM:PF05299:Peptidase_M61 12 0.463 SQHIGH 8 15 23 0 23 23 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 84909 9 97535426 97535426 27 NBL relapse snv PALM2 nonsense *412S NM_053016 30-PASGAP PALM2-AKAP2|PALM2 INTRON|NONSTOP SNP Somatic 17 0.821 SQHIGH 32 37 69 0 66 66 Cosmic_Gene G G C G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 445815|114299 9 112705704 112705704 113 NBL relapse snv IL15RA missense P34H NM_002189 30-PASGAP IL15RA MISSENSE,UTR SNP Somatic PFAM:PF00084:Sushi 19 0.966 SQHIGH 17 18 35 0 39 39 G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 3601 10 6008290 6008290 67 NBL relapse snv SEC61A2 missense V327I NM_018144 30-PASGAP SEC61A2 MISSENSE,UTR SNP Somatic PFAM:PF00344:SecY 0 0.142 SQHIGH 9 25 34 0 26 26 Cosmic_Gene G G A G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 55176 10 12202932 12202932 25 NBL relapse snv BMI1 missense F137L NM_005180 30-PASGAP COMMD3-BMI1|BMI1 MISSENSE|MISSENSE SNP Somatic -3 0.108 SQHIGH 4 19 23 0 24 24 Cosmic_Gene T T C T T TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 100532731|648 10 22616971 22616971 13 NBL relapse snv PRTFDC1 missense R148K NM_020200 30-PASGAP PRTFDC1 MISSENSE SNP Somatic PFAM:PF00156:Pribosyltran 8 0.305 SQHIGH 25 38 63 0 52 52 Cosmic_Gene C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 56952 10 25145905 25145905 77 NBL relapse snv DNMBP missense A1494S NM_015221 30-PASGAP DNMBP MISSENSE SNP Somatic 12 0.463 SQHIGH 19 29 48 0 48 48 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 23268 10 101639636 101639636 67 NBL relapse snv SORCS1 missense T216A NM_052918 30-PASGAP SORCS1 MISSENSE SNP Somatic 11 0.415 SQHIGH 14 24 38 0 26 26 Cosmic_Gene T T C T T TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 114815 10 108589412 108589412 37 NBL relapse snv ST5 silent P388P NM_005418 30-PASGAP ST5 SYNONYMOUS,INTRON SNP Somatic 0 0.142 SQHIGH 27 13 40 0 30 30 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 6764 11 8751673 8751673 92 NBL relapse snv MPEG1 missense T247S NM_001039396 30-PASGAP MPEG1 MISSENSE SNP Somatic PFAM:PF01823:MACPF 8 0.305 SQHIGH 19 57 76 0 58 58 Cosmic_Gene G G C G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 219972 11 58979599 58979599 52 NBL relapse snv MIR3162 EXON E7_exon NM_002556 30-PASGAP MIR3162|OSBP UTR|INTRON SNP Somatic -3 0.108 SQHIGH 11 31 42 0 26 26 Cosmic_Gene T T A T T TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 100422880|5007 11 59362558 59362558 hsa-mir-3162:MI0014192 26 NBL relapse snv ZC3H12C missense N468K NM_033390 30-PASGAP ZC3H12C MISSENSE SNP Somatic 19 0.966 SQHIGH 20 8 28 1 45 46 C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 85463 11 110035214 110035214 100 NBL relapse snv DSCAML1 missense S98Y NM_020693 30-PASGAP DSCAML1 MISSENSE SNP Somatic 0 0.142 SQHIGH 9 6 15 0 16 16 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 57453 11 117651459 117651459 36 NBL relapse snv HIF1A-AS2 EXON E15_exon NM_001530 30-PASGAP HIF1A UTR3 SNP Somatic 17 0.821 SQHIGH 17 4 21 0 24 24 Cosmic_Gene T T A T T TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 3091 14 62214413 62214413 83 NBL relapse snv GPR176 missense D399H NM_007223 30-PASGAP GPR176 MISSENSE SNP Somatic 16 0.743 SQHIGH 16 21 37 1 28 29 Cosmic_Gene C C G C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 11245 15 40093686 40093686 38 NBL relapse snv VPS18 missense G179V NM_020857 30-PASGAP VPS18 MISSENSE SNP Somatic 10 0.373 SQHIGH 11 23 34 0 40 40 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 57617 15 41191552 41191552 42 NBL relapse snv HAUS2 silent R49R NM_018097 30-PASGAP HAUS2 SYNONYMOUS,INTRON SNP Somatic 1 0.157 SQHIGH 5 2 7 0 16 16 A A G A A TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 55142 15 42850449 42850449 32 NBL relapse snv SLC30A4 nonsense G280* NM_013309 30-PASGAP SLC30A4 NONSENSE SNP Somatic PFAM:PF01545:Cation_efflux 0 0.142 SQHIGH 8 12 20 0 20 20 C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 7782 15 45781095 45781095 28 NBL relapse snv FURIN missense T336S NM_002569 30-PASGAP FURIN MISSENSE SNP Somatic -2 0.117 SQHIGH 8 12 20 0 11 11 Cosmic_Gene A A T A A TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 5045 15 91422159 91422159 18 NBL relapse snv EDC4 splice I80_E2splice NM_014329 30-PASGAP EDC4 DISRUPT SNP Somatic 13 0.526 SQHIGH 18 25 43 0 48 48 Cosmic_Gene T T G T T TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 23644 16 67910006 67910006 69 NBL relapse snv ZFHX3 silent P387P NM_006885 30-PASGAP ZFHX3 SYNONYMOUS,INTRON SNP Somatic 13 0.526 SQHIGH 11 10 21 0 20 20 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 463 16 72992884 72992884 40 NBL relapse snv ZNF778 missense P61L NM_182531 30-PASGAP ZNF778 INTRON,MISSENSE SNP Somatic 10 0.373 SQHIGH 17 25 42 0 47 47 C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 197320 16 89289629 89289629 65 NBL relapse snv MED11 nonsense *118L NM_001001683 30-PASGAP MED11 NONSTOP SNP Somatic -9 0.063 SQHIGH 6 30 36 0 36 36 A A T A A TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 400569 17 4636481 4636481 19 NBL relapse snv KIF1C missense D197E NM_006612 30-PASGAP KIF1C MISSENSE SNP Somatic -5 0.090 SQHIGH 20 31 51 0 29 29 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 10749 17 4905920 4905920 47 NBL relapse snv ALOX12B missense H393Q NM_001139 30-PASGAP ALOX12B MISSENSE SNP Somatic PFAM:PF00305:Lipoxygenase 16 0.743 SQHIGH 12 26 38 0 32 32 G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 242 17 7980404 7980404 36 NBL relapse snv DNAH9 missense H1407Y NM_001372 30-PASGAP DNAH9 MISSENSE SNP Somatic PFAM:PF08393:DHC_N2 -3 0.108 SQHIGH 6 5 11 0 17 17 Cosmic_Gene C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 1770 17 11593358 11593358 29 NBL relapse snv DNAH9 missense D3424Y NM_001372 30-PASGAP DNAH9 MISSENSE SNP Somatic 20 1.000 SQHIGH 19 19 38 0 43 43 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 1770 17 11778293 11778293 76 NBL relapse snv NF1 splice E2193_E42splice NM_000267 30-PASGAP NF1 DISRUPT SNP Somatic 7 0.277 SQHIGH 10 5 15 0 25 25 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 4763 17 29664601 29664601 55 NBL relapse snv LYZL6 missense R130K NM_020426 30-PASGAP LYZL6|RDM1 MISSENSE|TSS-UPSTREAM SNP Somatic 4 0.206 SQHIGH 17 28 45 0 38 38 Cosmic_Gene C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 57151|201299 17 34261858 34261858 53 NBL relapse snv CCL4 missense R69I NM_002984 30-PASGAP CCL4 MISSENSE SNP Somatic 3 0.188 SQHIGH 19 26 45 0 45 45 G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 6351 17 34432632 34432632 68 NBL relapse snv MTCL1 missense G376W NM_015210 30-PASGAP MTCL1 MISSENSE SNP Somatic -2 0.117 SQHIGH 8 18 26 0 18 18 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 23255 18 8784236 8784236 21 NBL relapse snv DSG1 missense N327Y NM_001942 30-PASGAP DSG1 MISSENSE SNP Somatic 5 0.229 SQHIGH 8 17 25 0 34 34 Cosmic_Gene A A T A A TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 1828 18 28914139 28914139 33 NBL relapse snv ZNF317 silent N429N NM_020933 30-PASGAP ZNF317 SYNONYMOUS SNP Somatic 2 0.172 SQHIGH 6 16 22 0 28 28 C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 57693 19 9271608 9271608 23 NBL relapse snv ATP4A silent Y570Y NM_000704 30-PASGAP ATP4A SYNONYMOUS SNP Somatic 6 0.251 SQHIGH 28 27 55 0 35 35 Cosmic_Gene G G A G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 495 19 36047974 36047974 76 NBL relapse snv ZNF566 missense D353N NM_001145345 30-PASGAP ZNF566 MISSENSE SNP Somatic 3 0.188 SQHIGH 17 21 38 1 24 25 C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 84924 19 36940079 36940079 35 NBL relapse snv SIRPG-AS1 EXON E2_exon NM_018556 30-PASGAP SIRPG INTRON SNP Somatic 8 0.305 SQHIGH 14 13 27 0 33 33 Cosmic_Gene C C A C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 55423 20 1628915 1628915 59 NBL relapse snv CEP250 missense E845D NM_007186 30-PASGAP CEP250 MISSENSE SNP Somatic 2 0.172 SQHIGH 15 22 37 0 22 22 Cosmic_Gene G G T G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 11190 20 34067919 34067919 36 NBL relapse snv SLC2A10 missense S436R NM_030777 30-PASGAP SLC2A10 MISSENSE SNP Somatic -1 0.130 SQHIGH 16 28 44 1 28 29 Cosmic_Gene C C G C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 81031 20 45355522 45355522 31 NBL relapse snv PI4KA splice_region Q263_E6splice_region NM_058004 30-PASGAP PI4KA DONOR SNP Somatic 2 0.172 SQHIGH 7 18 25 0 13 13 Cosmic_Gene C C T C C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 5297 22 21173924 21173924 14 NBL relapse snv POLDIP3 missense L6V NM_032311 30-PASGAP POLDIP3|RNU12 MISSENSE|TSS-UPSTREAM SNP Somatic 16 0.743 SQHIGH 12 13 25 0 25 25 G G C G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 84271|267010 22 43010848 43010848 44 NBL relapse snv SMC1A missense L940F NM_006306 30-PASGAP SMC1A MISSENSE SNP Somatic PFAM:PF02463:SMC_N 13 0.526 SQHIGH 11 2 13 0 21 21 Cosmic_Gene C A C TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 8243 X 53423189 53423189 66 NBL relapse snv SAGE1 missense Q433H NM_018666 30-PASGAP SAGE1 MISSENSE SNP Somatic 12 0.463 SQHIGH 12 6 18 0 20 20 Cosmic_Gene G T G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 55511 X 134990387 134990387 52 NBL diagnosis snv TNFRSF9 missense P162L NM_001561 30-PASGUT TNFRSF9 MISSENSE SNP Somatic 14 0.529 SQHIGH 19 27 46 0 53 53 Cosmic_Gene G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 3604 1 7995132 7995132 74 NBL diagnosis snv SLC2A7 missense T170I NM_207420 30-PASGUT SLC2A7 MISSENSE SNP Somatic PFAM:PF00083:Sugar_tr 9 0.280 SQHIGH 25 39 64 0 47 47 G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 155184 1 9078362 9078362 71 NBL diagnosis snv ZNF687 silent R730R NM_020832 30-PASGUT ZNF687 SYNONYMOUS SNP Somatic 12 0.399 SQHIGH 16 20 36 0 48 48 Cosmic_Gene C C A C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 57592 1 151261076 151261076 69 NBL diagnosis snv RGS8 missense D76G NM_033345 30-PASGUT RGS8 MISSENSE SNP Somatic -7 0.064 SQHIGH 7 32 39 3 59 62 Cosmic_Gene T T C T T TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 85397 1 182635124 182635124 14 NBL diagnosis snv OBSCN silent A1624A NM_001271223 30-PASGUT OBSCN INTRON SNP Somatic 3 0.146 SQHIGH 17 53 70 0 49 49 Cosmic_Gene G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 84033 1 228447212 228447212 43 NBL diagnosis snv GALNT14 missense V82L NM_001253826 30-PASGUT GALNT14 INTRON SNP Somatic 13 0.454 SQHIGH 18 29 47 0 57 57 Cosmic_Gene C C A C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 79623 2 31337679 31337679 72 NBL diagnosis snv CNNM4 missense A624E NM_020184 30-PASGUT CNNM4 MISSENSE SNP Somatic -7 0.064 SQHIGH 6 47 53 0 53 53 Cosmic_Gene C C A C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 26504 2 97465308 97465308 19 NBL diagnosis snv TLK1 missense R185Q NM_012290 30-PASGUT TLK1 MISSENSE SNP Somatic 8 0.252 SQHIGH 9 14 23 0 21 21 Cosmic_Gene C C T C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 9874 2 171911678 171911678 29 NBL diagnosis snv UNC80 missense S735G NM_032504 30-PASGUT UNC80 MISSENSE SNP Somatic -2 0.092 SQHIGH 6 10 16 1 27 28 A A G A A TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 285175 2 210685275 210685275 22 NBL diagnosis snv COL4A3 missense L1111F NM_000091 30-PASGUT LOC654841|COL4A3 INTRON|MISSENSE SNP Somatic 12 0.399 SQHIGH 10 21 31 0 30 30 Cosmic_Gene C C T C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 654841|1285 2 228158027 228158027 33 NBL diagnosis snv PTPN23 missense A1581V NM_015466 30-PASGUT PTPN23 MISSENSE SNP Somatic 4 0.161 SQHIGH 10 4 14 0 20 20 Cosmic_Gene C C T C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 25930 3 47454506 47454506 51 NBL diagnosis snv NMD3 missense V398G NM_015938 30-PASGUT NMD3 MISSENSE SNP Somatic 15 0.620 SQHIGH 11 25 36 1 29 30 Cosmic_Gene T T G T T TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 51068 3 160965108 160965108 24 NBL diagnosis snv PEX5L silent I586I NM_016559 30-PASGUT PEX5L SYNONYMOUS SNP Somatic 4 0.161 SQHIGH 6 18 24 1 28 29 Cosmic_Gene G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 51555 3 179519739 179519739 16 NBL diagnosis snv TP63 missense S92R NM_003722 30-PASGUT TP63 MISSENSE SNP Somatic 4 0.161 SQHIGH 9 28 37 0 39 39 Cosmic_Gene A A C A A TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 8626 3 189456513 189456513 31 NBL diagnosis snv SLC4A4 missense R943H NM_001098484 30-PASGUT SLC4A4 MISSENSE SNP Somatic PFAM:PF00955:HCO3_cotransp 7 0.228 SQHIGH 9 33 42 0 43 43 Cosmic_Gene G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 8671 4 72423493 72423493 30 NBL diagnosis snv ARHGEF38 silent R623R NM_001242729 30-PASGUT ARHGEF38 SYNONYMOUS SNP Somatic 2 0.133 SQHIGH 11 36 47 0 48 48 Cosmic_Gene G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 54848 4 106588465 106588465 37 NBL diagnosis snv NDST4 missense D733E NM_022569 30-PASGUT NDST4 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 6 0.205 SQHIGH 7 19 26 0 19 19 Cosmic_Gene G G C G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 64579 4 115760621 115760621 18 NBL diagnosis snv LRBA missense Q831K NM_006726 30-PASGUT LRBA MISSENSE SNP Somatic 6 0.205 SQHIGH 11 24 35 0 23 23 Cosmic_Gene G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 987 4 151789416 151789416 27 NBL diagnosis snv DCHS2 missense G712R NM_017639 30-PASGUT DCHS2 MISSENSE SNP Somatic 3 0.146 SQHIGH 13 48 61 0 29 29 Cosmic_Gene C C G C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 54798 4 155253729 155253729 24 NBL diagnosis snv DNAH5 missense F2755L NM_001369 30-PASGUT DNAH5 MISSENSE SNP Somatic PFAM:PF00485:PRK 7 0.228 SQHIGH 9 11 20 0 17 17 Cosmic_Gene G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 1767 5 13792286 13792286 29 NBL diagnosis snv ISL1 missense H39Y NM_002202 30-PASGUT ISL1|LOC642366 MISSENSE|TSS-UPSTREAM SNP Somatic 13 0.454 SQHIGH 22 14 36 0 30 30 Cosmic_Gene C C T C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 3670|642366 5 50680461 50680461 77 NBL diagnosis snv HLA-C splice_region A366_E8splice_region NM_002117 30-PASGUT HLA-C ACCEPTOR SNP Somatic -9 0.055 SQHIGH 9 42 51 0 31 31 G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 3107 6 31236956 31236956 20 NBL diagnosis snv BTNL2 splice_region E237_E3splice_region NM_019602 30-PASGUT BTNL2 DONOR SNP Somatic 6 0.205 SQHIGH 20 41 61 0 46 46 Cosmic_Gene G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 56244 6 32370709 32370709 56 NBL diagnosis snv FBXO9 missense P262L NM_012347 30-PASGUT FBXO9 MISSENSE SNP Somatic 12 0.399 SQHIGH 12 15 27 0 21 21 Cosmic_Gene C C T C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 26268 6 52957328 52957328 36 NBL diagnosis snv GCM1 missense D278Y NM_003643 30-PASGUT GCM1 MISSENSE SNP Somatic 17 0.831 SQHIGH 22 24 46 0 62 62 Cosmic_Gene C C A C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 8521 6 52993483 52993483 98 NBL diagnosis snv CREB5 missense T150I NM_182898 30-PASGUT CREB5 MISSENSE SNP Somatic 9 0.280 SQHIGH 25 42 67 0 45 45 Cosmic_Gene C C T C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 9586 7 28610140 28610140 66 NBL diagnosis snv CCT6A missense M321I NM_001762 30-PASGUT SNORA15|CCT6A TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00118:Cpn60_TCP1 1 0.120 SQHIGH 5 22 27 0 42 42 Cosmic_Gene G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 677803|908 7 56126390 56126390 21 NBL diagnosis snv ABCB1 missense V321L NM_000927 30-PASGUT ABCB1 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane 14 0.529 SQHIGH 11 28 39 0 37 37 Cosmic_Gene C C G C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 5243 7 87183115 87183115 35 NBL diagnosis snv RELN silent G3311G NM_005045 30-PASGUT RELN SYNONYMOUS SNP Somatic 6 0.205 SQHIGH 17 52 69 0 37 37 Cosmic_Gene G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 5649 7 103126694 103126694 35 NBL diagnosis snv KCND2 silent L45L NM_012281 30-PASGUT KCND2 SYNONYMOUS SNP Somatic PFAM:PF00651:BTB 1 0.120 SQHIGH 24 90 114 0 69 69 Cosmic_Gene G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 3751 7 119914821 119914821 54 NBL diagnosis snv CADPS2 missense V582F NM_017954 30-PASGUT CADPS2 MISSENSE SNP Somatic PFAM:PF00638:Ran_BP1 3 0.146 SQHIGH 13 44 57 1 44 45 Cosmic_Gene C C A C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 93664 7 122130243 122130243 27 NBL diagnosis snv CPA1 splice_region Q49_E2splice_region NM_001868 30-PASGUT CPA1 DONOR SNP Somatic -5 0.073 SQHIGH 20 101 121 0 80 80 Cosmic_Gene G G C G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 1357 7 130021025 130021025 47 NBL diagnosis snv MGAM splice Q1832_E47splice NM_004668 30-PASGUT MGAM DISRUPT SNP Somatic 5 0.177 SQHIGH 23 66 89 0 52 52 Cosmic_Gene G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 8972 7 141803240 141803240 51 NBL diagnosis snv FAM135B missense E1109Q NM_015912 30-PASGUT FAM135B MISSENSE SNP Somatic -2 0.092 SQHIGH 5 14 19 0 27 27 Cosmic_Gene C C G C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 51059 8 139160886 139160886 21 NBL diagnosis snv CNTRL missense S1537I NM_007018 30-PASGUT CNTRL MISSENSE SNP Somatic 13 0.454 SQHIGH 21 21 42 0 55 55 Cosmic_Gene G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 11064 9 123920131 123920131 93 NBL diagnosis snv MORN4 splice R61_E3splice NM_178832 30-PASGUT MORN4 DISRUPT SNP Somatic 15 0.620 SQHIGH 26 30 56 0 45 45 C C G C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 118812 10 99376964 99376964 82 NBL diagnosis snv IQSEC3 missense D466H NM_001170738 30-PASGUT IQSEC3|LOC574538 MISSENSE|INTRON SNP Somatic 9 0.280 SQHIGH 13 16 29 0 19 19 Cosmic_Gene G G C G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 440073|574538 12 247925 247925 35 NBL diagnosis snv CD4 missense P158S NM_000616 30-PASGUT CD4 UTR5,MISSENSE,UTR SNP Somatic 10 0.311 SQHIGH 35 40 75 0 80 80 C C T C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 920 12 6924023 6924023 134 NBL diagnosis snv LRCOL1 missense P148L NM_001195520 30-PASGUT LRCOL1 MISSENSE SNP Somatic 2 0.133 SQHIGH 18 32 50 1 43 44 G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 100507055 12 133180874 133180874 46 NBL diagnosis snv MTUS2 missense D368Y NM_001033602 30-PASGUT MTUS2 MISSENSE SNP Somatic 14 0.529 SQHIGH 14 13 27 0 31 31 G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 23281 13 29599907 29599907 57 NBL diagnosis snv KLHL33 missense R504P NM_001109997 30-PASGUT KLHL33 MISSENSE SNP Somatic 10 0.311 SQHIGH 12 32 44 0 42 42 C C G C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 123103 14 20897099 20897099 39 NBL diagnosis snv ZC3H7A missense R175T NM_014153 30-PASGUT ZC3H7A MISSENSE SNP Somatic 7 0.228 SQHIGH 12 19 31 1 35 36 Cosmic_Gene C C G C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 29066 16 11870330 11870330 37 NBL diagnosis snv ZFPM1 missense Q375R NM_153813 30-PASGUT ZFPM1 MISSENSE SNP Somatic 11 0.351 SQHIGH 14 30 44 0 37 37 Cosmic_Gene A A G A A TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 161882 16 88599278 88599278 42 NBL diagnosis snv RAP1GAP2 missense E656D NM_015085 30-PASGUT RAP1GAP2 MISSENSE SNP Somatic -6 0.068 SQHIGH 6 24 30 0 24 24 Cosmic_Gene G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 23108 17 2929746 2929746 16 NBL diagnosis snv USP6 missense D778H NM_004505 30-PASGUT USP6 MISSENSE SNP Somatic 19 0.944 SQHIGH 21 14 35 0 37 37 Cosmic_Gene G G C G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 9098 17 5050390 5050390 85 NBL diagnosis snv SLC13A2 silent K465K NM_001145975 30-PASGUT SLC13A2 SYNONYMOUS,UTR SNP Somatic 17 0.831 SQHIGH 57 37 94 1 79 80 G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 9058 17 26821470 26821470 187 NBL diagnosis snv SLC4A1 missense Y347F NM_000342 30-PASGUT SLC4A1 MISSENSE SNP Somatic 6 0.205 SQHIGH 20 43 63 0 50 50 Cosmic_Gene T T A T T TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 6521 17 42335828 42335828 58 NBL diagnosis snv NGFR silent P370P NM_002507 30-PASGUT LOC100288866|NGFR INTRON|SYNONYMOUS SNP Somatic -1 0.101 SQHIGH 22 115 137 0 49 49 Cosmic_Gene C C A C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 100288866|4804 17 47590197 47590197 31 NBL diagnosis snv TMC6 missense T654S NM_001127198 30-PASGUT TMC6 MISSENSE SNP Somatic 6 0.205 SQHIGH 15 64 79 0 58 58 T T A T T TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 11322 17 76113944 76113944 39 NBL diagnosis snv SERPINB5 missense D95E NM_002639 30-PASGUT SERPINB5 MISSENSE SNP Somatic 6 0.205 SQHIGH 20 30 50 0 48 48 Cosmic_Gene C C A C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 5268 18 61154295 61154295 69 NBL diagnosis snv MYO1F splice_region G952_E25splice_region NM_012335 30-PASGUT MYO1F INTRON SNP Somatic 9 0.280 SQHIGH 20 25 45 1 47 48 Cosmic_Gene C C T C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 4542 19 8590355 8590355 64 NBL diagnosis snv MUC16 missense C13707F NM_024690 30-PASGUT MUC16 MISSENSE SNP Somatic PFAM:PF01390:SEA 15 0.620 SQHIGH 27 32 59 0 59 59 Cosmic_Gene C C A C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 94025 19 8996452 8996452 98 NBL diagnosis snv MUC16 silent I6262I NM_024690 30-PASGUT MUC16 SYNONYMOUS SNP Somatic 16 0.700 SQHIGH 20 27 47 0 58 58 Cosmic_Gene G G T G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 94025 19 9068660 9068660 82 NBL diagnosis snv ZNF625 missense P330A NM_145233 30-PASGUT ZNF625|ZNF625-ZNF20 MISSENSE,UTR|INTRON SNP Somatic 15 0.620 SQHIGH 26 28 54 0 69 69 G G C G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 90589|100529855 19 12256243 12256243 112 NBL diagnosis snv SULT2A1 silent P143P NM_003167 30-PASGUT SULT2A1 SYNONYMOUS SNP Somatic PFAM:PF00685:Sulfotransfer_1 11 0.351 SQHIGH 26 37 63 0 61 61 Cosmic_Gene T T C T T TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 6822 19 48385384 48385384 90 NBL diagnosis snv TULP2 missense A241S NM_003323 30-PASGUT TULP2 MISSENSE SNP Somatic 10 0.311 SQHIGH 13 21 34 1 28 29 Cosmic_Gene C C A C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 7288 19 49391434 49391434 31 NBL diagnosis snv ENTPD6 missense V450M NM_001247 30-PASGUT ENTPD6 MISSENSE SNP Somatic PFAM:PF01150:GDA1_CD39 9 0.280 SQHIGH 24 31 55 0 53 53 G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 955 20 25205945 25205945 84 NBL diagnosis snv IFNAR1 missense A424V NM_000629 30-PASGUT IFNAR1 MISSENSE SNP Somatic PFAM:PF09294:Interfer-bind 7 0.228 SQHIGH 9 9 18 0 21 21 Cosmic_Gene C C T C C TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 3454 21 34725191 34725191 36 NBL diagnosis snv SON missense H524L NM_032195 30-PASGUT SON MISSENSE SNP Somatic 17 0.831 SQHIGH 26 21 47 0 71 71 Cosmic_Gene A A T A A TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 6651 21 34923108 34923108 129 NBL diagnosis snv MN1 missense S126L NM_002430 30-PASGUT MN1 MISSENSE SNP Somatic 19 0.944 SQHIGH 19 13 32 0 28 28 Cosmic_Gene G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 4330 22 28196155 28196155 68 NBL diagnosis snv SBF1 missense P1575L NM_002972 30-PASGUT SBF1 MISSENSE SNP Somatic 7 0.228 SQHIGH 15 25 40 0 26 26 G G A G G TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 6305 22 50893331 50893331 38 NBL diagnosis mnv NCAM1 splice V210_E7splice NM_000615 30-PASGUT NCAM1 DISRUPT Sub Somatic -7 0.293 SQHIGH 16 8 24 0 54 54 Cosmic_Gene AG AG TA AG AG TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 4684 11 113077981 113077982 104 NBL diagnosis snv SPRR2G missense Q6H NM_001014291 30-PASHFA SPRR2G MISSENSE SNP Somatic -7 0.069 SQHIGH 6 19 25 0 14 14 C C A C C TARGET-30-PASHFA-01A-01D TARGET-30-PASHFA-10A-01D 6706 1 153122569 153122569 13 NBL diagnosis snv STK10 silent A604A NM_005990 30-PASHFA STK10 SYNONYMOUS SNP Somatic PFAM:PF12474:PKK -3 0.098 SQHIGH 8 43 51 0 44 44 Cosmic_Gene G G C G G TARGET-30-PASHFA-01A-01D TARGET-30-PASHFA-10A-01D 6793 5 171509507 171509507 23 NBL diagnosis snv POU5F1 missense R275Q NM_002701 30-PASHFA POU5F1 MISSENSE SNP Somatic 1 0.148 SQHIGH 6 27 33 0 34 34 Cosmic_Gene C C T C C TARGET-30-PASHFA-01A-01D TARGET-30-PASHFA-10A-01D 5460 6 31132637 31132637 20 NBL diagnosis snv OR4B1 missense P181H NM_001005470 30-PASHFA OR4B1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 3 0.180 SQHIGH 11 29 40 0 32 32 Cosmic_Gene C C A C C TARGET-30-PASHFA-01A-01D TARGET-30-PASHFA-10A-01D 119765 11 48238903 48238903 31 NBL diagnosis snv TPM1 silent D42D NM_001018007 30-PASHFA TPM1 SYNONYMOUS,INTRON,TSS-UPSTREAM SNP Somatic 0 0.134 SQHIGH 6 14 20 0 23 23 C C T C C TARGET-30-PASHFA-01A-01D TARGET-30-PASHFA-10A-01D 7168 15 63335916 63335916 22 NBL diagnosis snv SMTN silent I115I NM_134270 30-PASHFA SMTN SYNONYMOUS SNP Somatic PFAM:PF12510:Smoothelin 3 0.180 SQHIGH 9 27 36 0 48 48 Cosmic_Gene C C A C C TARGET-30-PASHFA-01A-01D TARGET-30-PASHFA-10A-01D 6525 22 31484735 31484735 36 NBL relapse snv MFN2 silent S431S NM_014874 30-PASHFA MFN2 SYNONYMOUS SNP Somatic 17 0.797 SQHIGH 15 5 20 0 30 30 Cosmic_Gene G G C G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 9927 1 12064571 12064571 82 NBL relapse snv RHBDL2 splice G132_E3splice NM_017821 30-PASHFA RHBDL2 DISRUPT SNP Somatic -3 0.099 SQHIGH 7 20 27 0 39 39 A A T A A TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 54933 1 39381232 39381232 29 NBL relapse snv SPRR2G missense Q6H NM_001014291 30-PASHFA SPRR2G MISSENSE SNP Somatic -2 0.109 SQHIGH 12 8 20 0 14 14 C C A C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 6706 1 153122569 153122569 36 NBL relapse snv ARID4B silent S1088S NM_016374 30-PASHFA ARID4B SYNONYMOUS SNP Somatic 4 0.198 SQHIGH 8 22 30 0 19 19 Cosmic_Gene C C A C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 51742 1 235344970 235344970 19 NBL relapse snv FSIP2 missense S4328N NM_173651 30-PASHFA FSIP2 MISSENSE SNP Somatic -9 0.058 SQHIGH 5 22 27 0 28 28 G G A G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 401024 2 186666749 186666749 16 NBL relapse snv OSBPL10 silent L131L NM_017784 30-PASHFA OSBPL10 SYNONYMOUS SNP Somatic 6 0.242 SQHIGH 9 16 25 0 31 31 Cosmic_Gene C C A C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 114884 3 31921211 31921211 36 NBL relapse snv LRRC31 missense P16H NM_024727 30-PASHFA LRRC31 MISSENSE SNP Somatic 5 0.217 SQHIGH 12 14 26 0 32 32 Cosmic_Gene G G T G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 79782 3 169587549 169587549 50 NBL relapse snv MUC4 missense P222L NM_018406 30-PASHFA MUC4 INTRON,MISSENSE SNP Somatic 16 0.706 SQHIGH 19 14 33 0 37 37 G G A G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 4585 3 195517786 195517786 79 NBL relapse snv TFRC nonsense G744* NM_003234 30-PASHFA TFRC NONSENSE SNP Somatic PFAM:PF04253:TFR_dimer 4 0.198 SQHIGH 12 10 22 0 24 24 Cosmic_Gene C C A C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 7037 3 195778866 195778866 48 NBL relapse snv NFKB1 missense L950V NM_003998 30-PASHFA NFKB1 MISSENSE SNP Somatic 1 0.147 SQHIGH 7 23 30 0 37 37 Cosmic_Gene C C G C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 4790 4 103537689 103537689 26 NBL relapse snv FAT2 nonsense Q1323* NM_001447 30-PASHFA FAT2 NONSENSE SNP Somatic 10 0.365 SQHIGH 13 23 36 0 49 49 Cosmic_Gene G G A G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 2196 5 150932927 150932927 55 NBL relapse snv STK10 silent A604A NM_005990 30-PASHFA STK10 SYNONYMOUS SNP Somatic PFAM:PF12474:PKK 8 0.295 SQHIGH 13 18 31 0 44 44 Cosmic_Gene G G C G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 6793 5 171509507 171509507 58 NBL relapse snv FLT4 missense G933R NM_182925 30-PASHFA FLT4 MISSENSE SNP Somatic PFAM:PF07714:Pkinase_Tyr 8 0.295 SQHIGH 11 9 20 0 19 19 Cosmic_Gene C C G C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 2324 5 180046074 180046074 40 NBL relapse snv POU5F1 missense R275Q NM_002701 30-PASHFA POU5F1 MISSENSE SNP Somatic 13 0.503 SQHIGH 12 11 23 1 27 28 Cosmic_Gene C C T C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 5460 6 31132637 31132637 41 NBL relapse snv TBC1D22B nonsense E4* NM_017772 30-PASHFA TMEM217|TBC1D22B TSS-UPSTREAM,UTR5|NONSENSE SNP Somatic -6 0.076 SQHIGH 14 13 27 0 30 30 G G T G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 221468|55633 6 37225703 37225703 56 NBL relapse snv AP5Z1 missense A487E NM_014855 30-PASHFA AP5Z1 MISSENSE SNP Somatic 4 0.198 SQHIGH 7 19 26 0 21 21 Cosmic_Gene C C A C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 9907 7 4827790 4827790 20 NBL relapse snv ZNF462 silent P545P NM_021224 30-PASHFA ZNF462 SYNONYMOUS SNP Somatic -3 0.099 SQHIGH 4 17 21 0 24 24 Cosmic_Gene A A G A A TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 58499 9 109687828 109687828 14 NBL relapse snv TTC17 missense R206K NM_018259 30-PASHFA TTC17 MISSENSE SNP Somatic 11 0.403 SQHIGH 9 23 32 0 31 31 Cosmic_Gene G G A G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 55761 11 43413456 43413456 29 NBL relapse snv OR4B1 missense P181H NM_001005470 30-PASHFA OR4B1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 15 0.633 SQHIGH 13 19 32 0 32 32 Cosmic_Gene C C A C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 119765 11 48238903 48238903 46 NBL relapse snv STYK1 missense L146I NM_018423 30-PASHFA STYK1 MISSENSE SNP Somatic 19 0.960 SQHIGH 17 12 29 0 37 37 Cosmic_Gene G G T G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 55359 12 10783659 10783659 77 NBL relapse snv KRT75 silent L314L NM_004693 30-PASHFA KRT75 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament 20 0.994 SQHIGH 17 21 38 0 65 65 G G A G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 9119 12 52824420 52824420 86 NBL relapse snv MON2 missense A952G NM_015026 30-PASHFA MON2 MISSENSE SNP Somatic 16 0.706 SQHIGH 13 17 30 0 32 32 Cosmic_Gene C C G C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 23041 12 62943549 62943549 48 NBL relapse snv MYCBP2 missense I667F NM_015057 30-PASHFA MYCBP2 MISSENSE SNP Somatic 13 0.503 SQHIGH 13 17 30 0 32 32 Cosmic_Gene T T A T T TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 23077 13 77834581 77834581 48 NBL relapse snv MYCBP2 silent P629P NM_015057 30-PASHFA MYCBP2 SYNONYMOUS SNP Somatic 4 0.198 SQHIGH 14 18 32 0 33 33 Cosmic_Gene A A T A A TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 23077 13 77834693 77834693 51 NBL relapse snv MGA missense G2881V NM_001164273 30-PASHFA MGA MISSENSE SNP Somatic 4 0.198 SQHIGH 9 31 40 0 34 34 Cosmic_Gene G G T G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 23269 15 42058922 42058922 26 NBL relapse snv HOXB7 missense E213D NM_004502 30-PASHFA HOXB7|HOXB6 MISSENSE|TSS-UPSTREAM SNP Somatic 1 0.147 SQHIGH 17 35 52 0 26 26 C C G C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 3217|3216 17 46685219 46685219 35 NBL relapse snv DSEL silent E157E NM_032160 30-PASHFA DSEL|LOC643542 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 17 0.797 SQHIGH 12 20 32 1 47 48 Cosmic_Gene T T C T T TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 92126|643542 18 65181405 65181405 44 NBL relapse snv JAK3 missense A1032D NM_000215 30-PASHFA JAK3 MISSENSE SNP Somatic -5 0.082 SQHIGH 4 3 7 0 10 10 Cosmic_Gene G G T G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 3718 19 17941313 17941313 18 NBL relapse snv UBA52 silent I3I NM_001033930 30-PASHFA UBA52 SYNONYMOUS SNP Somatic 17 0.797 SQHIGH 12 17 29 0 33 33 C C A C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 7311 19 18684119 18684119 46 NBL relapse snv ZNF728 missense H451P NM_001267716 30-PASHFA SNP Somatic -10 0.054 SQHIGH 9 21 30 1 31 32 T T G T T TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 19 23158787 23158787 23 NBL relapse snv SMTN silent I115I NM_134270 30-PASHFA SMTN SYNONYMOUS SNP Somatic PFAM:PF12510:Smoothelin 9 0.326 SQHIGH 17 20 37 0 48 48 Cosmic_Gene C C A C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 6525 22 31484735 31484735 73 NBL relapse snv PHF8 missense S760N NM_015107 30-PASHFA PHF8 MISSENSE SNP Somatic -8 0.064 SQHIGH 10 13 23 0 25 25 Cosmic_Gene C C T C C TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 23133 X 54011511 54011511 38 NBL relapse snv PLXNA3 missense G727R NM_017514 30-PASHFA PLXNA3 MISSENSE SNP Somatic 5 0.217 SQHIGH 7 10 17 0 30 30 Cosmic_Gene G G A G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 55558 X 153693496 153693496 35 NBL diagnosis snv SYTL1 silent V335V NM_032872 30-PASJYB SYTL1 SYNONYMOUS SNP Somatic -2 0.100 SQHIGH 4 16 20 1 58 59 Cosmic_Gene G G C G G TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 84958 1 27677320 27677320 19 NBL diagnosis snv INPP5B silent E151E NM_005540 30-PASJYB INPP5B SYNONYMOUS SNP Somatic -10 0.052 SQHIGH 3 9 12 0 23 23 Cosmic_Gene C C T C C TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 3633 1 38397664 38397664 15 NBL diagnosis snv ZBTB18 silent L490L NM_205768 30-PASJYB ZBTB18 SYNONYMOUS SNP Somatic -8 0.061 SQHIGH 3 12 15 0 36 36 Cosmic_Gene G G A G G TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 10472 1 244218546 244218546 17 NBL diagnosis snv MRPS9 splice_region D105_E2splice_region NM_182640 30-PASJYB MRPS9 INTRON SNP Somatic 17 0.847 SQHIGH 9 12 21 0 29 29 A A G A A TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 64965 2 105665817 105665817 39 NBL diagnosis snv PCDHA3 missense L580Q NM_018906 30-PASJYB PCDHA4|PCDHA1|PCDHA3|PCDHA2 TSS-UPSTREAM|INTRON|MISSENSE|INTRON SNP Somatic 7 0.262 SQHIGH 24 28 52 0 53 53 Cosmic_Gene T T A T T TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 56144|56147|56145|56146 5 140182521 140182521 88 NBL diagnosis snv LOC101926915 EXON E1_exon NM_005822 30-PASJYB RCAN2 INTRON SNP Somatic 15 0.677 SQHIGH 29 23 52 0 69 69 C C A C C TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 10231 6 46244120 46244120 133 NBL diagnosis snv C6orf141 missense V224G NM_001145652 30-PASJYB C6orf141 MISSENSE SNP Somatic 7 0.262 SQHIGH 19 14 33 1 29 30 T T G T T TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 135398 6 49519176 49519176 57 NBL diagnosis snv ESR1 missense M517I NM_000125 30-PASJYB ESR1 MISSENSE SNP Somatic 17 0.847 SQHIGH 28 32 60 0 67 67 Cosmic_Gene G G T G G TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 2099 6 152415701 152415701 110 NBL diagnosis snv GALT missense A20T NM_000155 30-PASJYB GALT MISSENSE SNP Somatic 5 0.203 SQHIGH 11 8 19 0 19 19 G G A G G TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 2592 9 34646759 34646759 42 NBL diagnosis snv ALOX5 missense Y661N NM_000698 30-PASJYB ALOX5 MISSENSE SNP Somatic PFAM:PF00305:Lipoxygenase 14 0.586 SQHIGH 38 32 70 0 88 88 Cosmic_Gene T T A T T TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 240 10 45941091 45941091 168 NBL diagnosis snv NRG3 missense L310V NM_001010848 30-PASJYB NRG3 MISSENSE SNP Somatic 15 0.677 SQHIGH 31 26 57 0 60 60 Cosmic_Gene C C G C C TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 10718 10 84118599 84118599 122 NBL diagnosis snv TRIM6 missense D139Y NM_001003818 30-PASJYB TRIM6|TRIM6-TRIM34 INTRON,MISSENSE|MISSENSE SNP Somatic PFAM:PF00643:zf-B_box 11 0.402 SQHIGH 36 44 80 0 97 97 Cosmic_Gene G G T G G TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 117854|445372 11 5624873 5624873 148 NBL diagnosis snv NCR3LG1 missense A294G NM_001202439 30-PASJYB NCR3LG1 MISSENSE SNP Somatic 12 0.451 SQHIGH 43 41 84 0 88 88 C C G C C TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 374383 11 17393575 17393575 166 NBL diagnosis snv XRCC3 missense W288L NM_001100119 30-PASJYB KLC1|XRCC3 INTRON|MISSENSE SNP Somatic -1 0.110 SQHIGH 8 40 48 1 43 44 C C A C C TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 3831|7517 14 104165313 104165313 17 NBL diagnosis snv USP29 missense W117C NM_020903 30-PASJYB USP29 MISSENSE SNP Somatic 17 0.847 SQHIGH 22 18 40 1 55 56 Cosmic_Gene G G C G G TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 57663 19 57640394 57640394 91 NBL diagnosis snv URB1 missense K616N NM_014825 30-PASJYB URB1 MISSENSE SNP Somatic 17 0.847 SQHIGH 20 25 45 0 54 54 C C A C C TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 9875 21 33732126 33732126 81 NBL diagnosis snv NSDHL silent T143T NM_015922 30-PASJYB NSDHL SYNONYMOUS SNP Somatic PFAM:PF01073:3Beta_HSD 1 0.135 SQHIGH 5 11 16 0 21 21 C C A C C TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 50814 X 152031154 152031154 20 NBL diagnosis snv DENND5A silent S846S NM_015213 30-PASJZC DENND5A SYNONYMOUS SNP Somatic -8 0.071 SQHIGH 3 14 17 0 42 42 Cosmic_Gene T T A T T TARGET-30-PASJZC-01A-01D TARGET-30-PASJZC-10A-01D 23258 11 9172295 9172295 17 NBL diagnosis snv SLC24A4 silent P395P NM_153646 30-PASJZC SLC24A4 SYNONYMOUS SNP Somatic -1 0.134 SQHIGH 5 16 21 0 20 20 Cosmic_Gene G G A G G TARGET-30-PASJZC-01A-01D TARGET-30-PASJZC-10A-01D 123041 14 92922882 92922882 16 NBL diagnosis snv SLC24A4 silent P396P NM_153646 30-PASJZC SLC24A4 SYNONYMOUS SNP Somatic -5 0.091 SQHIGH 5 12 17 0 23 23 Cosmic_Gene G G A G G TARGET-30-PASJZC-01A-01D TARGET-30-PASJZC-10A-01D 123041 14 92922885 92922885 20 NBL diagnosis snv SETD6 missense E35G NM_001160305 30-PASJZC SETD6 MISSENSE SNP Somatic -10 0.060 SQHIGH 4 4 8 0 9 9 Cosmic_Gene A A G A A TARGET-30-PASJZC-01A-01D TARGET-30-PASJZC-10A-01D 79918 16 58549771 58549771 15 NBL diagnosis snv KCND1 missense L577P NM_004979 30-PASJZC OTUD5|KCND1 TSS-UPSTREAM|MISSENSE SNP Somatic -6 0.085 SQHIGH 4 16 20 1 41 42 Cosmic_Gene A A G A A TARGET-30-PASJZC-01A-01D TARGET-30-PASJZC-10A-01D 55593|3750 X 48820056 48820056 15 NBL diagnosis snv KCND1 missense S576N NM_004979 30-PASJZC OTUD5|KCND1 TSS-UPSTREAM|MISSENSE SNP Somatic -6 0.085 SQHIGH 3 17 20 0 46 46 Cosmic_Gene C C T C C TARGET-30-PASJZC-01A-01D TARGET-30-PASJZC-10A-01D 55593|3750 X 48820059 48820059 16 NBL diagnosis snv MAP7D1 missense R404C NM_018067 30-PASKJX MAP7D1 MISSENSE SNP Somatic 8 0.288 SQHIGH 22 11 33 1 41 42 Cosmic_Gene C C T C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 55700 1 36642159 36642159 92 NBL diagnosis snv GNL2 nonsense G8* NM_013285 30-PASKJX GNL2 NONSENSE SNP Somatic 7 0.261 SQHIGH 25 38 63 0 73 73 Cosmic_Gene C C A C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 29889 1 38061402 38061402 97 NBL diagnosis snv ARNT missense R100Q NM_001668 30-PASKJX ARNT MISSENSE SNP Somatic 16 0.739 SQHIGH 30 36 66 0 73 73 Cosmic_Gene C C T C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 405 1 150812104 150812104 117 NBL diagnosis snv LY9 missense E409Q NM_002348 30-PASKJX LY9 MISSENSE SNP Somatic 15 0.677 SQHIGH 27 28 55 1 62 63 Cosmic_Gene G G C G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 4063 1 160786536 160786536 96 NBL diagnosis snv VIT missense V387L NM_053276 30-PASKJX VIT MISSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 14 0.577 SQHIGH 11 19 30 0 34 34 Cosmic_Gene G G T G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 5212 2 37028544 37028544 41 NBL diagnosis snv PTCD3 missense A300T NM_017952 30-PASKJX PTCD3 MISSENSE SNP Somatic 18 0.895 SQHIGH 18 20 38 0 59 59 Cosmic_Gene G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 55037 2 86352950 86352950 87 NBL diagnosis snv TTN missense P14802L NM_133378 30-PASKJX TTN|LOC100506866 MISSENSE|INTRON SNP Somatic 7 0.261 SQHIGH 20 35 55 0 45 45 Cosmic_Gene G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 7273|100506866 2 179473629 179473629 60 NBL diagnosis snv CCR2 missense L84M NM_001123041 30-PASKJX CCR2 MISSENSE SNP Somatic 12 0.444 SQHIGH 36 11 47 0 80 80 Cosmic_Gene C C A C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 729230 3 46399268 46399268 215 NBL diagnosis snv MCCC1 silent R18R NM_020166 30-PASKJX MCCC1 SYNONYMOUS SNP Somatic 7 0.261 SQHIGH 22 34 56 0 85 85 Cosmic_Gene C C G C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 56922 3 182817175 182817175 102 NBL diagnosis snv GABRA4 missense G183V NM_000809 30-PASKJX GABRA4 MISSENSE SNP Somatic PFAM:PF02931:Neur_chan_LBD 0 0.125 SQHIGH 5 7 12 0 17 17 Cosmic_Gene C C A C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 2557 4 46979107 46979107 22 NBL diagnosis snv FSTL4 missense S57N NM_015082 30-PASKJX FSTL4 MISSENSE SNP Somatic -5 0.085 SQHIGH 6 30 36 0 34 34 Cosmic_Gene C C T C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 23105 5 132736669 132736669 18 NBL diagnosis snv MAML1 missense V232I NM_014757 30-PASKJX MAML1 MISSENSE SNP Somatic -10 0.058 SQHIGH 8 58 66 0 67 67 Cosmic_Gene G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 9794 5 179192705 179192705 25 NBL diagnosis snv OR2J3 missense Y14D NM_001005216 30-PASKJX OR2J3 MISSENSE SNP Somatic 14 0.577 SQHIGH 30 26 56 0 58 58 T T G T T TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 442186 6 29079707 29079707 116 NBL diagnosis snv TAP1 silent P599P NM_000593 30-PASKJX TAP1|PSMB8 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 10 0.353 SQHIGH 23 31 54 0 40 40 Cosmic_Gene G G T G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 6890|5696 6 32815819 32815819 67 NBL diagnosis snv EYS missense S807I NM_001142800 30-PASKJX EYS MISSENSE SNP Somatic 15 0.677 SQHIGH 11 19 30 0 25 25 Cosmic_Gene C C A C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 346007 6 65622598 65622598 33 NBL diagnosis snv COL12A1 missense L1093P NM_004370 30-PASKJX COL12A1 INTRON,MISSENSE SNP Somatic -6 0.079 SQHIGH 6 22 28 1 35 36 Cosmic_Gene A A G A A TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 1303 6 75865543 75865543 16 NBL diagnosis snv VNN1 missense E371D NM_004666 30-PASKJX VNN1 MISSENSE SNP Somatic 14 0.577 SQHIGH 13 10 23 0 20 20 Cosmic_Gene C C A C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 8876 6 133013437 133013437 45 NBL diagnosis snv TAB2 missense T104R NM_015093 30-PASKJX TAB2 MISSENSE SNP Somatic 15 0.677 SQHIGH 25 31 56 2 56 58 C C G C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 23118 6 149699362 149699362 71 NBL diagnosis snv SNX13 missense R160H NM_015132 30-PASKJX SNX13 MISSENSE SNP Somatic PFAM:PF02194:PXA -6 0.079 SQHIGH 6 34 40 0 22 22 Cosmic_Gene C C T C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 23161 7 17915375 17915375 12 NBL diagnosis snv FLNC missense A1081T NM_001458 30-PASKJX FLNC MISSENSE SNP Somatic PFAM:PF00630:Filamin 0 0.125 SQHIGH 42 98 140 2 86 88 Cosmic_Gene G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 2318 7 128484760 128484760 78 NBL diagnosis snv LMBR1 splice_region G332_E13splice_region NM_022458 30-PASKJX LMBR1 ACCEPTOR SNP Somatic 3 0.169 SQHIGH 15 50 65 0 41 41 G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 64327 7 156518541 156518541 35 NBL diagnosis snv COL14A1 missense E1156D NM_021110 30-PASKJX COL14A1 MISSENSE SNP Somatic 6 0.231 SQHIGH 6 5 11 0 28 28 Cosmic_Gene G G T G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 7373 8 121290804 121290804 38 NBL diagnosis snv RECQL4 silent P1125P NM_004260 30-PASKJX RECQL4 SYNONYMOUS SNP Somatic 12 0.444 SQHIGH 18 31 49 0 57 57 Cosmic_Gene G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 9401 8 145737312 145737312 69 NBL diagnosis snv VAV2 silent L619L NM_001134398 30-PASKJX VAV2 SYNONYMOUS SNP Somatic 14 0.577 SQHIGH 30 24 54 0 35 35 Cosmic_Gene C C T C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 7410 9 136643917 136643917 85 NBL diagnosis snv DHTKD1 silent L887L NM_018706 30-PASKJX DHTKD1 SYNONYMOUS SNP Somatic 7 0.261 SQHIGH 10 15 25 0 35 35 Cosmic_Gene C C T C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 55526 10 12162788 12162788 44 NBL diagnosis snv KCNQ1 splice_region R562_E13splice_region NM_000218 30-PASKJX KCNQ1 INTRON SNP Somatic 15 0.677 SQHIGH 29 30 59 1 58 59 Cosmic_Gene C C T C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 3784 11 2797292 2797292 94 NBL diagnosis snv OR56B4 missense L291H NM_001005181 30-PASKJX OR56B4 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 8 0.288 SQHIGH 12 30 42 0 51 51 Cosmic_Gene T T A T T TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 196335 11 6129880 6129880 46 NBL diagnosis snv ABCC8 missense Q416E NM_000352 30-PASKJX ABCC8 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane -3 0.098 SQHIGH 4 26 30 0 36 36 Cosmic_Gene G G C G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 6833 11 17470149 17470149 14 NBL diagnosis snv VSTM5 missense S128I NM_001144871 30-PASKJX VSTM5 MISSENSE SNP Somatic PFAM:PF00047:ig 17 0.851 SQHIGH 19 21 40 1 66 67 C C A C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 387804 11 93554198 93554198 84 NBL diagnosis snv TMPRSS4 missense G412C NM_019894 30-PASKJX TMPRSS4 MISSENSE SNP Somatic -35 0.002 4 24 29 0 53 53 Cosmic_Gene G G T G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 56649 11 117988101 117988101 19 NBL diagnosis snv CREBL2 silent R106R NM_001310 30-PASKJX CREBL2 SYNONYMOUS SNP Somatic 3 0.169 SQHIGH 13 13 26 0 29 29 G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 1389 12 12790608 12790608 51 NBL diagnosis snv ALDH1L2 nonsense S173* NM_001034173 30-PASKJX ALDH1L2 NONSENSE,UTR SNP Somatic 8 0.288 SQHIGH 7 11 18 0 22 22 Cosmic_Gene G G T G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 160428 12 105462573 105462573 28 NBL diagnosis snv SSH1 missense S428N NM_018984 30-PASKJX SSH1 MISSENSE SNP Somatic PFAM:PF00782:DSPc -2 0.106 SQHIGH 13 43 56 0 67 67 Cosmic_Gene C C T C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 54434 12 109192842 109192842 48 NBL diagnosis snv MTIF3 missense S244R NM_001166263 30-PASKJX MTIF3 MISSENSE SNP Somatic 4 0.186 SQHIGH 14 46 60 0 51 51 Cosmic_Gene G G T G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 219402 13 28009917 28009917 41 NBL diagnosis snv TTC7B missense E77D NM_001010854 30-PASKJX TTC7B MISSENSE SNP Somatic 17 0.851 SQHIGH 23 22 45 0 68 68 Cosmic_Gene C C A C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 145567 14 91252563 91252563 111 NBL diagnosis snv ODF3L1 splice_region R77_E3splice_region NM_175881 30-PASKJX ODF3L1 ACCEPTOR SNP Somatic 16 0.739 SQHIGH 19 3 22 0 40 40 T T G T T TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 161753 15 76018389 76018389 124 NBL diagnosis snv SLC5A2 missense V467L NM_003041 30-PASKJX SLC5A2 MISSENSE SNP Somatic PFAM:PF00474:SSF 12 0.444 SQHIGH 17 32 49 0 54 54 Cosmic_Gene G G C G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 6524 16 31500319 31500319 62 NBL diagnosis snv NOG silent T201T NM_005450 30-PASKJX NOG SYNONYMOUS SNP Somatic PFAM:PF05806:Noggin 1 0.138 SQHIGH 8 29 37 0 24 24 G G C G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 9241 17 54672187 54672187 19 NBL diagnosis snv ZNF358 missense C265Y NM_018083 30-PASKJX ZNF358|MCOLN1 MISSENSE|TSS-UPSTREAM SNP Somatic 14 0.577 SQHIGH 10 9 19 0 38 38 Cosmic_Gene G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 140467|57192 19 7584922 7584922 57 NBL diagnosis snv COL5A3 missense V1543E NM_015719 30-PASKJX COL5A3 MISSENSE SNP Somatic PFAM:PF01410:COLFI -1 0.115 SQHIGH 14 17 31 1 29 30 Cosmic_Gene A A T A A TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 50509 19 10077253 10077253 39 NBL diagnosis snv CYP4F12 missense T496P NM_023944 30-PASKJX CYP4F12 MISSENSE SNP Somatic PFAM:PF00067:p450 -6 0.079 SQHIGH 8 64 72 0 82 82 Cosmic_Gene A A C A A TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 66002 19 15807806 15807806 27 NBL diagnosis snv FFAR1 nonsense W124* NM_005303 30-PASKJX FFAR1 NONSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.204 SQHIGH 22 45 67 0 60 60 Cosmic_Gene G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 2864 19 35842825 35842825 70 NBL diagnosis snv SAMD4B nonsense Y545* NM_018028 30-PASKJX SAMD4B NONSENSE SNP Somatic -10 0.058 SQHIGH 8 26 34 1 34 35 C C A C C TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 55095 19 39870710 39870710 19 NBL diagnosis snv PLEKHA4 missense P574A NM_020904 30-PASKJX PLEKHA4 MISSENSE SNP Somatic 13 0.498 SQHIGH 10 16 26 0 27 27 Cosmic_Gene G G C G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 57664 19 49348650 49348650 36 NBL diagnosis snv MCM8 missense V329M NM_032485 30-PASKJX MCM8 MISSENSE SNP Somatic 7 0.261 SQHIGH 18 15 33 0 26 26 Cosmic_Gene G G A G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 84515 20 5948191 5948191 58 NBL diagnosis snv CHRNA4 missense L558M NM_000744 30-PASKJX CHRNA4 MISSENSE SNP Somatic 9 0.318 SQHIGH 9 19 28 0 33 33 Cosmic_Gene G G T G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 1137 20 61981091 61981091 34 NBL diagnosis snv TAB3 missense A2V NM_152787 30-PASKJX TAB3 MISSENSE SNP Somatic 18 0.895 SQHIGH 19 2 21 0 21 21 Cosmic_Gene G A G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 257397 X 30877701 30877701 93 NBL diagnosis snv SPIN3 missense H20Y NM_001010862 30-PASKJX SPIN3 MISSENSE,UTR SNP Somatic 18 0.895 SQHIGH 19 6 25 1 25 26 Cosmic_Gene G A G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 169981 X 57021323 57021323 72 NBL diagnosis snv ADAM30 missense K72N NM_021794 30-PASLGS ADAM30 MISSENSE SNP Somatic PFAM:PF01562:Pep_M12B_propep -4 0.086 SQHIGH 8 39 47 0 37 37 Cosmic_Gene C C A C C TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 11085 1 120438744 120438744 21 NBL diagnosis snv TTC24 missense Y523C NM_001105669 30-PASLGS TTC24 MISSENSE SNP Somatic -7 0.065 SQHIGH 17 42 59 0 36 36 Cosmic_Gene A A G A A TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 164118 1 156555616 156555616 Somatic Illumina 40 50625 32741 83492 104161 233 104652 NBL diagnosis snv FCRL6 missense T67I NM_001004310 30-PASLGS FCRL6 MISSENSE SNP dbsnp.134:rs150017462 Somatic 12 0.602 SQHIGH 18 29 47 0 45 45 Cosmic_Gene C C T C C TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 343413 1 159778115 159778115 Somatic Illumina 61 29850 17011 46865 60846 28 60881 NBL diagnosis snv MYCN missense P44L NM_005378 30-PASLGS MYCNOS|MYCN TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01056:Myc_N -6 0.072 SQHIGH 16 8 24 0 13 13 COSMIC:mut:35624 Cosmic_Gene C C T C C TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 10408|4613 2 16082317 16082317 Somatic Illumina 42 17472 18070 35567 41023 161 41186 NBL diagnosis snv APOB missense S3503L NM_000384 30-PASLGS APOB MISSENSE SNP Somatic 7 0.366 SQHIGH 24 66 90 0 52 52 Cosmic_Gene G G A G G TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 338 2 21229232 21229232 Somatic Illumina 53 31810 12537 44349 50589 46 50643 NBL diagnosis snv LOC100132215 EXON E23_exon NM_015252 30-PASLGS LOC100132215|EHBP1 UTR|INTRON SNP Somatic -4 0.086 SQHIGH 10 44 54 0 24 24 Cosmic_Gene G G A G G TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 100132215|23301 2 63271764 63271764 17 NBL diagnosis snv KLF15 silent C323C NM_014079 30-PASLGS KLF15 SYNONYMOUS SNP Somatic 6 0.324 SQHIGH 19 41 60 0 46 46 Cosmic_Gene A A G A A TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 28999 3 126070797 126070797 53 NBL diagnosis snv AGXT2 missense L303I NM_031900 30-PASLGS AGXT2 MISSENSE SNP Somatic 6 0.324 SQHIGH 7 19 26 0 28 28 Cosmic_Gene G G T G G TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 64902 5 35025924 35025924 Somatic Illumina 24 50003 28069 78100 103952 29 104005 NBL diagnosis snv GABRB2 silent R5R NM_021911 30-PASLGS GABRB2 SYNONYMOUS SNP Somatic 3 0.205 SQHIGH 16 42 58 0 31 31 C C T C C TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 2561 5 160973635 160973635 33 NBL diagnosis snv BTNL3 missense A181E NM_197975 30-PASLGS BTNL3 MISSENSE SNP Somatic -6 0.072 SQHIGH 7 35 42 0 60 60 C C A C C TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 10917 5 180424357 180424357 28 NBL diagnosis snv TBC1D32 silent V122V NM_152730 30-PASLGS TBC1D32 SYNONYMOUS SNP Somatic 2 0.180 SQHIGH 12 41 53 0 17 17 Cosmic_Gene G G A G G TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 221322 6 121638770 121638770 Somatic Illumina 16 37397 9629 47034 69069 43 69117 NBL diagnosis snv RGS17 silent R54R NM_012419 30-PASLGS RGS17 SYNONYMOUS SNP Somatic -1 0.121 SQHIGH 10 26 36 0 22 22 Cosmic_Gene T T C T T TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 26575 6 153347636 153347636 23 NBL diagnosis snv PDE6C splice_region M715_E18splice_region NM_006204 30-PASLGS PDE6C ACCEPTOR SNP Somatic -1 0.121 SQHIGH 12 31 43 0 24 24 Cosmic_Gene C C A C C TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 5146 10 95418852 95418852 Somatic Illumina 26 26901 16799 43705 66737 24 66781 NBL diagnosis snv NLRP14 silent L288L NM_176822 30-PASLGS NLRP14 SYNONYMOUS SNP Somatic PFAM:PF00485:PRK 10 0.492 SQHIGH 16 28 44 0 40 40 Cosmic_Gene C C A C C TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 338323 11 7064121 7064121 52 NBL diagnosis snv DSC3 missense G561V NM_001941 30-PASLGS DSC3 MISSENSE SNP Somatic -3 0.095 SQHIGH 12 32 44 0 19 19 Cosmic_Gene C C A C C TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 1825 18 28587079 28587079 Somatic Illumina 21 24935 8977 33954 47953 14 48018 NBL diagnosis snv KIR3DL1 missense S161P NM_013289 30-PASLGS KIR3DL1 MISSENSE SNP Somatic 7 0.366 SQHIGH 24 36 60 1 55 56 Cosmic_Gene T T C T T TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 3811 19 55331293 55331293 Somatic Sanger 69 2701 283 2991 5284 9 5307 NBL diagnosis snv OPHN1 splice_region N234_E8splice_region NM_002547 30-PASLGS OPHN1 INTRON SNP Somatic 17 0.936 SQHIGH 14 6 20 0 11 11 Cosmic_Gene C A C TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 4983 X 67431941 67431941 38 NBL diagnosis complex MAP3K9 frameshift A455fs NM_033141 30-PASLGS MAP3K9 FRAMESHIFT Sub Somatic -4 0.452 SQHIGH 8 26 34 1 32 33 Cosmic_Gene GT GT GCCC GT GT TARGET-30-PASLGS-01A-01D TARGET-30-PASLGS-10A-01D 4293 14 71209269 71209270 18 NBL diagnosis snv RSC1A1 missense H80Q NM_006511 30-PASMDM RSC1A1|DDI2 MISSENSE|UTR3 SNP Somatic -3 0.096 SQHIGH 4 18 22 0 23 23 Cosmic_Gene T T A T T TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 6248|84301 1 15986603 15986603 13 NBL diagnosis snv SCAP silent S173S NM_012235 30-PASMDM SCAP SYNONYMOUS SNP Somatic -1 0.116 SQHIGH 4 19 23 0 31 31 Cosmic_Gene G G A G G TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 22937 3 47469049 47469049 16 NBL diagnosis snv IMPG2 nonsense Y849* NM_016247 30-PASMDM IMPG2 NONSENSE SNP Somatic 3 0.171 SQHIGH 6 30 36 0 39 39 Cosmic_Gene G G C G G TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 50939 3 100962628 100962628 20 NBL diagnosis snv BANK1 silent P526P NM_017935 30-PASMDM BANK1 SYNONYMOUS SNP Somatic -9 0.059 SQHIGH 5 23 28 0 57 57 Cosmic_Gene T T A T T TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 55024 4 102946650 102946650 25 NBL diagnosis snv ARHGEF37 missense Q411R NM_001001669 30-PASMDM ARHGEF37 MISSENSE SNP Somatic 6 0.240 SQHIGH 13 49 62 1 46 47 A A G A A TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 389337 5 149001522 149001522 26 NBL diagnosis snv NAA35 silent R192R NM_024635 30-PASMDM NAA35 SYNONYMOUS SNP Somatic PFAM:PF04112:Mak10 -9 0.059 SQHIGH 9 29 38 0 22 22 Cosmic_Gene A A G A A TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 60560 9 88589941 88589941 20 NBL diagnosis snv LHX6 missense T78S NM_014368 30-PASMDM LHX6 MISSENSE SNP Somatic 7 0.268 SQHIGH 6 33 39 0 28 28 T T A T T TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 26468 9 124989234 124989234 15 NBL diagnosis snv LHX6 missense S77C NM_014368 30-PASMDM LHX6 MISSENSE SNP Somatic 1 0.141 SQHIGH 6 35 41 0 30 30 T T A T T TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 26468 9 124989237 124989237 15 NBL diagnosis snv SGPL1 missense D338G NM_003901 30-PASMDM SGPL1 MISSENSE SNP Somatic -9 0.059 SQHIGH 9 40 49 0 25 25 A A G A A TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 8879 10 72631697 72631697 17 NBL diagnosis snv OR51B6 missense L113F NM_001004750 30-PASMDM OR51B5|OR51B6 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.240 SQHIGH 15 37 52 0 66 66 Cosmic_Gene G G T G G TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 282763|390058 11 5373076 5373076 59 NBL diagnosis snv PHC1 nonsense R34* NM_004426 30-PASMDM PHC1 NONSENSE SNP Somatic -4 0.089 SQHIGH 7 48 55 0 44 44 Cosmic_Gene C C T C C TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 1911 12 9070373 9070373 19 NBL diagnosis snv PHC1 missense Q35E NM_004426 30-PASMDM PHC1 MISSENSE SNP Somatic 4 0.190 SQHIGH 7 53 60 0 46 46 Cosmic_Gene C C G C C TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 1911 12 9070376 9070376 18 NBL diagnosis snv ESPL1 silent L1129L NM_012291 30-PASMDM ESPL1 SYNONYMOUS SNP Somatic -9 0.059 SQHIGH 14 61 75 1 39 40 Cosmic_Gene T T C T T TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 9700 12 53679905 53679905 20 NBL diagnosis snv FAM109A missense A74G NM_144671 30-PASMDM FAM109A MISSENSE SNP Somatic -9 0.059 SQHIGH 6 16 22 1 24 25 G G C G G TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 144717 12 111801011 111801011 15 NBL diagnosis snv SLC12A3 silent L648L NM_000339 30-PASMDM SLC12A3 SYNONYMOUS SNP Somatic -6 0.075 SQHIGH 6 29 35 0 35 35 Cosmic_Gene C C G C C TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 6559 16 56920294 56920294 19 NBL diagnosis snv TEPP silent L14L NM_199046 30-PASMDM TEPP SYNONYMOUS SNP Somatic -10 0.055 SQHIGH 3 17 20 0 40 40 Cosmic_Gene C C T C C TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 374739 16 58010415 58010415 15 NBL diagnosis snv C17orf50 missense E44D NM_145272 30-PASMDM C17orf50 MISSENSE SNP Somatic 0 0.128 SQHIGH 3 5 8 0 17 17 G G C G G TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 146853 17 34091144 34091144 16 NBL diagnosis snv CSNK1G2-AS1 EXON E1_exon NM_001319 30-PASMDM CSNK1G2|C19orf34 INTRON|UTR SNP Somatic -6 0.075 SQHIGH 6 40 46 0 41 41 Cosmic_Gene C C G C C TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 1455|255193 19 1954007 1954007 17 NBL diagnosis snv TOP3B missense N33Y NM_003935 30-PASMDM TOP3B MISSENSE SNP Somatic -2 0.105 SQHIGH 5 38 43 0 48 48 Cosmic_Gene T T A T T TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 8940 22 22328834 22328834 17 NBL diagnosis snv GRAP2 missense E283G NM_004810 30-PASMDM GRAP2 MISSENSE SNP Somatic -6 0.075 SQHIGH 7 20 27 0 34 34 Cosmic_Gene A A G A A TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 9402 22 40366943 40366943 27 NBL diagnosis mnv EPHB2 missense A854_L855>AW NM_017449 30-PASMDM EPHB2 MISSENSE Sub Somatic -3 0.517 SQHIGH 15 41 56 0 45 45 Cosmic_Gene CCT CCT ATG CCT CCT TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 2048 1 23236934 23236936 43 NBL diagnosis mnv C1orf111 nonsense T39_A40>T* NM_182581 30-PASMDM C1orf111|C1orf226 NONSENSE|TSS-UPSTREAM Sub Somatic -3 0.517 SQHIGH 5 18 23 0 27 27 Cosmic_Gene GCT GCT CAG GCT GCT TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 284680|400793 1 162345178 162345180 18 NBL diagnosis mnv ATRIP missense V744G NM_130384 30-PASMDM ATRIP|TREX1 MISSENSE|TSS-UPSTREAM Sub Somatic -29 0.071 6 65 71 0 52 52 Cosmic_Gene TC TC GA TC TC TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 84126|11277 3 48506405 48506406 15 NBL diagnosis mnv ANK2 nonsense S1929* NM_001148 30-PASMDM ANK2 INTRON,NONSENSE Sub Somatic PFAM:PF04621:ETS_PEA3_N -13 0.291 9 42 51 1 34 35 Cosmic_Gene CG CG AA CG CG TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 287 4 114275560 114275561 15 NBL diagnosis mnv COL6A1 missense G553R NM_001848 30-PASMDM COL6A1 MISSENSE Sub Somatic -5 0.445 SQHIGH 9 19 28 0 24 24 Cosmic_Gene GGG GGG CGA GGG GGG TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 1291 21 47418856 47418858 27 NBL diagnosis snv KIF21B missense V1602I NM_017596 30-PASNEF KIF21B MISSENSE SNP Somatic 1 0.156 SQHIGH 11 30 41 1 51 52 Cosmic_Gene C C T C C TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 23046 1 200943294 200943294 34 NBL diagnosis snv PITX2 silent T17T NM_000325 30-PASNEF PITX2 SYNONYMOUS,INTRON SNP Somatic 15 0.654 SQHIGH 13 15 28 0 38 38 G G T G G TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 5308 4 111543566 111543566 57 NBL diagnosis snv CYP17A1 silent A398A NM_000102 30-PASNEF CYP17A1-AS1|CYP17A1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF00067:p450 1 0.156 SQHIGH 6 19 25 0 40 40 C C T C C TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 414269|1586 10 104591314 104591314 27 NBL diagnosis snv ARL2 missense S83N NM_001667 30-PASNEF ARL2|ARL2-SNX15 MISSENSE|UTR SNP Somatic 3 0.190 SQHIGH 15 55 70 0 47 47 G G A G G TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 402|100528018 11 64786114 64786114 36 NBL diagnosis snv GDF3 missense Q158K NM_020634 30-PASNEF GDF3 MISSENSE SNP Somatic PFAM:PF00688:TGFb_propeptide 0 0.140 SQHIGH 8 31 39 0 39 39 Cosmic_Gene G G T G G TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 9573 12 7843097 7843097 26 NBL diagnosis snv CLEC14A missense P440Q NM_175060 30-PASNEF CLEC14A MISSENSE SNP Somatic 9 0.342 SQHIGH 7 22 29 1 35 36 Cosmic_Gene G G T G G TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 161198 14 38723909 38723909 19 NBL diagnosis snv MYH3 missense A519V NM_002470 30-PASNEF MYH3 MISSENSE SNP Somatic 15 0.654 SQHIGH 10 22 32 1 37 38 Cosmic_Gene G G A G G TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 4621 17 10546168 10546168 29 NBL diagnosis snv PRKCSH missense R271H NM_002743 30-PASNEF PRKCSH MISSENSE SNP dbsnp.134:rs150738221 Somatic -6 0.079 SQHIGH 7 16 23 0 17 17 G G A G G TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 5589 19 11557938 11557938 19 NBL diagnosis snv RYR1 missense Y3933C NM_000540 30-PASNEF RYR1 MISSENSE SNP dbsnp.134:rs147136339 Somatic PFAM:PF08454:RIH_assoc 10 0.375 SQHIGH 7 13 20 1 26 27 Cosmic_Gene A A G A A TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 6261 19 39034191 39034191 22 NBL diagnosis snv LPA silent I1820I NM_005577 30-PASNML LPA SYNONYMOUS SNP Somatic -2 0.129 SQHIGH 6 26 32 0 35 35 Cosmic_Gene A A G A A TARGET-30-PASNML-01A-01D TARGET-30-PASNML-10A-01D 4018 6 160963779 160963779 20 NBL diagnosis snv RAB40B silent T168T NM_006822 30-PASNML RAB40B SYNONYMOUS SNP Somatic -3 0.118 SQHIGH 3 14 17 0 33 33 Cosmic_Gene C C T C C TARGET-30-PASNML-01A-01D TARGET-30-PASNML-10A-01D 10966 17 80616428 80616428 15 NBL diagnosis snv TMEM82 missense S156N NM_001013641 30-PASNPG TMEM82 MISSENSE SNP Somatic -10 0.060 SQHIGH 3 5 8 0 14 14 Cosmic_Gene G G A G G TARGET-30-PASNPG-01A-01D TARGET-30-PASNPG-10A-01D 388595 1 16070785 16070785 14 NBL diagnosis snv ALK missense F1174I NM_004304 30-PASNPG ALK MISSENSE SNP Somatic 15 0.699 SQHIGH 25 27 52 0 36 36 Cosmic_Gene A A T A A TARGET-30-PASNPG-01A-01D TARGET-30-PASNPG-10A-01D 238 2 29443697 29443697 71 NBL diagnosis snv TMPRSS11B missense L322F NM_182502 30-PASNPG TMPRSS11B MISSENSE SNP Somatic 7 0.320 SQHIGH 10 25 35 1 33 34 Cosmic_Gene G G A G G TARGET-30-PASNPG-01A-01D TARGET-30-PASNPG-10A-01D 132724 4 69094585 69094585 24 NBL diagnosis snv SV2C missense R471K NM_014979 30-PASNPG SV2C MISSENSE SNP Somatic 4 0.237 SQHIGH 9 28 37 0 44 44 Cosmic_Gene G G A G G TARGET-30-PASNPG-01A-01D TARGET-30-PASNPG-10A-01D 22987 5 75591677 75591677 33 NBL diagnosis snv STEAP4 silent D103D NM_024636 30-PASNPG STEAP4 SYNONYMOUS SNP Somatic PFAM:PF00670:AdoHcyase_NAD 6 0.292 SQHIGH 11 33 44 0 46 46 G G A G G TARGET-30-PASNPG-01A-01D TARGET-30-PASNPG-10A-01D 79689 7 87913276 87913276 37 NBL diagnosis snv NRXN2 missense C1403W NM_015080 30-PASNPG NRXN2 MISSENSE SNP Somatic 5 0.264 SQHIGH 5 13 18 0 19 19 Cosmic_Gene A A C A A TARGET-30-PASNPG-01A-01D TARGET-30-PASNPG-10A-01D 9379 11 64387809 64387809 17 NBL diagnosis snv RPL6 silent L174L NM_001024662 30-PASNPG RPL6 SYNONYMOUS SNP Somatic -9 0.066 SQHIGH 9 34 43 2 42 44 Cosmic_Gene A A G A A TARGET-30-PASNPG-01A-01D TARGET-30-PASNPG-10A-01D 6128 12 112844105 112844105 17 NBL relapse snv ALK missense F1174I NM_004304 30-PASNPG ALK MISSENSE SNP Somatic 17 0.832 SQHIGH 22 26 48 0 36 36 Cosmic_Gene A A T A A TARGET-30-PASNPG-02A-01D TARGET-30-PASNPG-10A-01D 238 2 29443697 29443697 65 NBL relapse snv TMPRSS11B missense L322F NM_182502 30-PASNPG TMPRSS11B MISSENSE SNP Somatic 7 0.309 SQHIGH 18 30 48 1 33 34 Cosmic_Gene G G A G G TARGET-30-PASNPG-02A-01D TARGET-30-PASNPG-10A-01D 132724 4 69094585 69094585 39 NBL relapse snv SV2C missense R471K NM_014979 30-PASNPG SV2C MISSENSE SNP Somatic 4 0.231 SQHIGH 6 19 25 0 44 44 Cosmic_Gene G G A G G TARGET-30-PASNPG-02A-01D TARGET-30-PASNPG-10A-01D 22987 5 75591677 75591677 28 NBL relapse snv STEAP4 silent D103D NM_024636 30-PASNPG STEAP4 SYNONYMOUS SNP Somatic PFAM:PF00670:AdoHcyase_NAD 2 0.192 SQHIGH 9 36 45 0 46 46 G G A G G TARGET-30-PASNPG-02A-01D TARGET-30-PASNPG-10A-01D 79689 7 87913276 87913276 29 NBL relapse snv ABCC8 missense Q416E NM_000352 30-PASNPG ABCC8 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane -1 0.143 SQHIGH 4 19 23 0 24 24 Cosmic_Gene G G C G G TARGET-30-PASNPG-02A-01D TARGET-30-PASNPG-10A-01D 6833 11 17470149 17470149 13 NBL diagnosis snv CTPS1 silent Q403Q NM_001905 30-PASNZU CTPS1 SYNONYMOUS SNP Somatic -5 0.075 SQHIGH 3 24 27 0 58 58 G G A G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 1503 1 41468805 41468805 15 NBL diagnosis snv CC2D1B nonsense *859W NM_032449 30-PASNZU CC2D1B NONSTOP SNP Somatic -7 0.065 SQHIGH 5 20 25 2 47 49 Cosmic_Gene T T C T T TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 200014 1 52819191 52819191 14 NBL diagnosis snv GNAI3 missense D200G NM_006496 30-PASNZU GNAI3 MISSENSE SNP Somatic -10 0.052 SQHIGH 4 16 20 1 37 38 Cosmic_Gene A A G A A TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 2773 1 110128846 110128846 14 NBL diagnosis snv CASQ1 missense E86G NM_001231 30-PASNZU CASQ1 MISSENSE SNP Somatic PFAM:PF01216:Calsequestrin -6 0.069 SQHIGH 7 29 36 2 55 57 Cosmic_Gene A A G A A TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 844 1 160160798 160160798 18 NBL diagnosis snv ZDBF2 missense T1677N NM_020923 30-PASNZU ZDBF2 MISSENSE SNP Somatic 17 0.817 SQHIGH 20 26 46 0 39 39 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 57683 2 207174282 207174282 64 NBL diagnosis snv MTMR14 splice H140_E4splice NM_001077526 30-PASNZU MTMR14 ACCEPTOR SNP dbsnp.134:rs150367672 Somatic 11 0.356 SQHIGH 21 30 51 0 51 51 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 64419 3 9710400 9710400 75 NBL diagnosis snv IQCF5 missense L52M NM_001145059 30-PASNZU IQCF5 MISSENSE SNP Somatic 11 0.356 SQHIGH 20 18 38 0 34 34 G G T G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 389124 3 51908042 51908042 70 NBL diagnosis snv MITF splice_region S35_E2splice_region NM_198159 30-PASNZU MITF ACCEPTOR SNP Somatic -10 0.052 SQHIGH 16 17 33 0 31 31 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 4286 3 69928280 69928280 56 NBL diagnosis snv PGM2 silent S165S NM_018290 30-PASNZU PGM2 SYNONYMOUS SNP Somatic -5 0.075 SQHIGH 6 21 27 1 38 39 Cosmic_Gene T T C T T TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 55276 4 37841523 37841523 18 NBL diagnosis snv KDR missense L252I NM_002253 30-PASNZU KDR MISSENSE SNP Somatic PFAM:PF07686:V-set 10 0.315 SQHIGH 16 24 40 0 46 46 Cosmic_Gene G G T G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 3791 4 55980337 55980337 62 NBL diagnosis snv OR2W1 missense M250R NM_030903 30-PASNZU LOC100129636|OR2W1 INTRON|MISSENSE SNP Somatic PFAM:PF00001:7tm_1 12 0.403 SQHIGH 11 16 27 0 31 31 Cosmic_Gene A A C A A TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 100129636|26692 6 29012204 29012204 42 NBL diagnosis snv FUT10 missense L68F NM_032664 30-PASNZU FUT10 MISSENSE SNP Somatic 7 0.229 SQHIGH 14 27 41 0 48 48 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 84750 8 33310906 33310906 53 NBL diagnosis snv SBF1P1 EXON E2_exon NM_052898 30-PASNZU SBF1P1|XKR4 UTR|INTRON SNP Somatic 13 0.463 SQHIGH 24 32 56 0 57 57 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 100133234|114786 8 56362483 56362483 87 NBL diagnosis snv TMEM249 missense R128L NM_001252402 30-PASNZU GPR172A|C8ORFK29 TSS-UPSTREAM|UTR SNP Somatic 12 0.403 SQHIGH 29 18 47 0 45 45 C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 79581|340393 8 145577673 145577673 112 NBL diagnosis snv ZNF462 silent S1737S NM_021224 30-PASNZU ZNF462 SYNONYMOUS SNP Somatic 12 0.403 SQHIGH 24 26 50 0 66 66 Cosmic_Gene C C T C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 58499 9 109691404 109691404 106 NBL diagnosis snv PRR26 EXON E1_exon NM_014974 30-PASNZU DIP2C|C10orf108 INTRON|UTR SNP Somatic 6 0.207 SQHIGH 19 16 35 1 36 37 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 22982|414235 10 707981 707981 63 NBL diagnosis snv LIPM missense E420G NM_001128215 30-PASNZU ANKRD22|LIPM UTR3|MISSENSE SNP Somatic -9 0.056 SQHIGH 4 11 15 1 38 39 Cosmic_Gene A A G A A TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 118932|340654 10 90580245 90580245 18 NBL diagnosis snv OPALIN missense A33E NM_033207 30-PASNZU OPALIN MISSENSE SNP Somatic 12 0.403 SQHIGH 7 2 9 0 26 26 G G T G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 93377 10 98109558 98109558 53 NBL diagnosis snv DCHS1 missense L2309M NM_003737 30-PASNZU DCHS1 MISSENSE SNP Somatic 16 0.710 SQHIGH 24 25 49 0 48 48 Cosmic_Gene G G T G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 8642 11 6646650 6646650 87 NBL diagnosis snv OR4A5 silent L12L NM_001005272 30-PASNZU OR4A5 SYNONYMOUS SNP Somatic 9 0.283 SQHIGH 20 21 41 0 60 60 Cosmic_Gene G G T G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 81318 11 51412360 51412360 94 NBL diagnosis snv ARL2-SNX15 EXON E8_exon NM_013306 30-PASNZU SNX15|SAC3D1|ARL2-SNX15 UTR3|TSS-UPSTREAM|UTR SNP Somatic 4 0.165 SQHIGH 24 22 46 1 49 50 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 29907|29901|100528018 11 64807316 64807316 83 NBL diagnosis snv FCHSD2 missense S681Y NM_014824 30-PASNZU FCHSD2 MISSENSE SNP Somatic 16 0.710 SQHIGH 19 23 42 1 69 70 Cosmic_Gene G G T G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 9873 11 72552513 72552513 83 NBL diagnosis snv ATP12A silent I387I NM_001676 30-PASNZU ATP12A SYNONYMOUS SNP Somatic 15 0.630 SQHIGH 18 27 45 0 58 58 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 479 13 25266659 25266659 75 NBL diagnosis snv MAP1A missense L1091F NM_002373 30-PASNZU MAP1A MISSENSE SNP Somatic 1 0.126 SQHIGH 12 69 81 2 75 77 Cosmic_Gene G G T G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 4130 15 43816944 43816944 22 NBL diagnosis snv SIN3A missense Q264H NM_001145358 30-PASNZU SIN3A MISSENSE SNP Somatic -3 0.088 SQHIGH 4 13 17 0 23 23 Cosmic_Gene C C G C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 25942 15 75704049 75704049 16 NBL diagnosis snv MAN2A2 silent P106P NM_006122 30-PASNZU MAN2A2 SYNONYMOUS SNP Somatic 11 0.356 SQHIGH 15 30 45 0 53 53 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 4122 15 91448666 91448666 57 NBL diagnosis snv MEFV missense G185W NM_000243 30-PASNZU MEFV INTRON,MISSENSE SNP Somatic -4 0.081 SQHIGH 6 18 24 0 15 15 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 4210 16 3304515 3304515 14 NBL diagnosis snv GAN splice_region R458_E8splice_region NM_022041 30-PASNZU GAN INTRON SNP Somatic 13 0.463 SQHIGH 27 27 54 0 32 32 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 8139 16 81398724 81398724 69 NBL diagnosis snv CDK10 missense P191Q NM_052988 30-PASNZU CDK10 MISSENSE,UTR SNP Somatic PFAM:PF03109:ABC1 13 0.463 SQHIGH 19 26 45 0 52 52 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 8558 16 89759839 89759839 75 NBL diagnosis snv LOC101928266 EXON E3_exon NM_004822 30-PASNZU NTN1 INTRON SNP Somatic 15 0.630 SQHIGH 26 25 51 0 61 61 C C T C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 9423 17 9077648 9077648 109 NBL diagnosis snv TMEM99 missense Q230K NM_145274 30-PASNZU TMEM99 MISSENSE SNP Somatic -5 0.075 SQHIGH 17 21 38 0 21 21 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 147184 17 38991456 38991456 40 NBL diagnosis snv HSD17B1 missense P27T NM_000413 30-PASNZU HSD17B1|LOC100290566 MISSENSE|UTR SNP Somatic 13 0.463 SQHIGH 35 17 52 0 45 45 C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 3292|100290566 17 40705030 40705030 131 NBL diagnosis snv ZNF560 missense R621I NM_152476 30-PASNZU ZNF560 MISSENSE SNP Somatic 17 0.817 SQHIGH 25 23 48 0 56 56 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 147741 19 9577761 9577761 104 NBL diagnosis snv NOTCH3 missense G1689C NM_000435 30-PASNZU NOTCH3 MISSENSE SNP Somatic -3 0.088 SQHIGH 5 10 15 0 10 10 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 4854 19 15281191 15281191 12 NBL diagnosis snv SALL4 missense Q632H NM_020436 30-PASNZU SALL4 MISSENSE SNP Somatic 7 0.229 SQHIGH 13 35 48 0 56 56 Cosmic_Gene C C A C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 57167 20 50407126 50407126 48 NBL diagnosis snv SLC37A1 splice E1_splice NM_018964 30-PASNZU RSPH1|SLC37A1 TSS-UPSTREAM|DISRUPT SNP Somatic 2 0.138 SQHIGH 16 62 78 0 66 66 Cosmic_Gene G G A G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 89765|54020 21 43919854 43919854 46 NBL diagnosis snv SEC14L6 missense G221R NM_001193336 30-PASNZU SEC14L6 MISSENSE SNP Somatic 14 0.539 SQHIGH 32 35 67 0 83 83 C C T C C TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 730005 22 30925077 30925077 135 NBL diagnosis snv CPT1B missense Q617K NM_004377 30-PASNZU CPT1B|CHKB-CPT1B MISSENSE|UTR SNP Somatic PFAM:PF00755:Carn_acyltransf 13 0.463 SQHIGH 18 24 42 1 61 62 Cosmic_Gene G G T G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 1375|386593 22 51009613 51009613 71 NBL diagnosis snv LRP2 missense L2558M NM_004525 30-PASPBZ LRP2 MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b 2 0.176 SQHIGH 6 13 19 0 20 20 Cosmic_Gene G G T G G TARGET-30-PASPBZ-01A-01D TARGET-30-PASPBZ-10A-01D 4036 2 170062032 170062032 21 NBL diagnosis snv ZC3H15 splice E322D NM_018471 30-PASPBZ ZC3H15 MISSENSE SNP Somatic 9 0.352 SQHIGH 16 31 47 0 47 47 Cosmic_Gene G G C G G TARGET-30-PASPBZ-01A-01D TARGET-30-PASPBZ-10A-01D 55854 2 187370568 187370568 55 NBL diagnosis snv UCHL1 missense L118I NM_004181 30-PASPBZ UCHL1 MISSENSE SNP Somatic 12 0.484 SQHIGH 25 24 49 0 42 42 Cosmic_Gene C C A C C TARGET-30-PASPBZ-01A-01D TARGET-30-PASPBZ-10A-01D 7345 4 41263758 41263758 84 NBL diagnosis snv MEF2C missense G448A NM_002397 30-PASPBZ MEF2C MISSENSE SNP Somatic 16 0.763 SQHIGH 13 25 38 0 44 44 Cosmic_Gene C C G C C TARGET-30-PASPBZ-01A-01D TARGET-30-PASPBZ-10A-01D 4208 5 88018500 88018500 49 NBL diagnosis snv ODF1 splice_region K107_E2splice_region NM_024410 30-PASPBZ ODF1 ACCEPTOR SNP Somatic -2 0.118 SQHIGH 11 21 32 0 34 34 Cosmic_Gene C C T C C TARGET-30-PASPBZ-01A-01D TARGET-30-PASPBZ-10A-01D 4956 8 103572671 103572671 39 NBL diagnosis snv GDI1 missense E95K NM_001493 30-PASPBZ GDI1 MISSENSE SNP Somatic PFAM:PF00996:GDI 10 0.389 SQHIGH 10 4 14 0 20 20 G A G TARGET-30-PASPBZ-01A-01D TARGET-30-PASPBZ-10A-01D 2664 X 153667381 153667381 51 NBL diagnosis snv ZBTB40 missense S130F NM_001083621 30-PASPER ZBTB40 MISSENSE SNP Somatic 11 0.341 SQHIGH 10 24 34 0 51 51 Cosmic_Gene C C T C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 9923 1 22816830 22816830 44 NBL diagnosis snv SELENBP1 silent L99L NM_003944 30-PASPER SELENBP1 SYNONYMOUS SNP Somatic PFAM:PF05694:SBP56 3 0.144 SQHIGH 11 47 58 0 29 29 G G T G G TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 8991 1 151341543 151341543 21 NBL diagnosis snv RUSC1-AS1 missense A177S NM_001039517 30-PASPER RUSC1|RUSC1-AS1 TSS-UPSTREAM,UTR5|MISSENSE SNP Somatic 16 0.687 SQHIGH 12 24 36 0 37 37 Cosmic_Gene C C A C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 23623|284618 1 155290751 155290751 42 NBL diagnosis snv DDR2 silent I112I NM_001014796 30-PASPER DDR2 SYNONYMOUS SNP dbsnp.134:rs146276174 Somatic 3 0.144 SQHIGH 12 54 66 0 62 62 Cosmic_Gene C C T C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 4921 1 162724564 162724564 37 NBL diagnosis snv USP40 missense D302E NM_018218 30-PASPER USP40 MISSENSE SNP Somatic -4 0.078 SQHIGH 5 14 19 0 17 17 Cosmic_Gene G G T G G TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 55230 2 234457843 234457843 15 NBL diagnosis snv GRAMD1C missense S588F NM_017577 30-PASPER GRAMD1C MISSENSE SNP Somatic -7 0.064 SQHIGH 5 24 29 0 29 29 Cosmic_Gene C C T C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 54762 3 113658804 113658804 16 NBL diagnosis snv ADRA2C missense F107L NM_000683 30-PASPER ADRA2C|LOC100507150 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00001:7tm_1 -2 0.092 SQHIGH 6 19 25 1 36 37 C C A C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 152|100507150 4 3768654 3768654 18 NBL diagnosis snv MUC17 missense S726T NM_001040105 30-PASPER MUC17 MISSENSE SNP Somatic -9 0.055 SQHIGH 6 17 23 0 14 14 Cosmic_Gene G G C G G TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 140453 7 100676874 100676874 14 NBL diagnosis snv KCNQ3 missense E414Q NM_004519 30-PASPER KCNQ3 MISSENSE SNP Somatic -3 0.085 SQHIGH 12 43 55 0 41 41 Cosmic_Gene C C G C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 3786 8 133175737 133175737 32 NBL diagnosis snv OR5C1 missense L249P NM_001001923 30-PASPER OR5C1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -8 0.059 SQHIGH 7 24 31 2 39 41 Cosmic_Gene T T C T T TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 392391 9 125551957 125551957 15 NBL diagnosis snv CNGA4 missense E353G NM_001037329 30-PASPER CNGA4 MISSENSE SNP Somatic 0 0.110 SQHIGH 5 17 22 0 26 26 Cosmic_Gene A A G A A TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 1262 11 6262801 6262801 18 NBL diagnosis snv CLNS1A missense L4P NM_001293 30-PASPER CLNS1A MISSENSE SNP Somatic -8 0.059 SQHIGH 6 32 38 0 23 23 Cosmic_Gene A A G A A TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 1207 11 77348749 77348749 13 NBL diagnosis snv CCDC153 missense R187S NM_001145018 30-PASPER CCDC153 MISSENSE SNP Somatic 9 0.269 SQHIGH 7 16 23 0 26 26 C C A C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 283152 11 119061081 119061081 25 NBL diagnosis snv SLC8B1 missense L340P NM_024959 30-PASPER SLC8B1 MISSENSE SNP Somatic -8 0.059 SQHIGH 7 29 36 1 41 42 Cosmic_Gene A A G A A TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 80024 12 113753256 113753256 18 NBL diagnosis snv CSPG4 missense V656L NM_001897 30-PASPER CSPG4 MISSENSE SNP Somatic 1 0.120 SQHIGH 8 21 29 1 36 37 Cosmic_Gene C C A C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 1464 15 75981440 75981440 23 NBL diagnosis snv NEURL4 splice_region K1228_E22splice_region NM_032442 30-PASPER NEURL4|GPS2 INTRON|TSS-UPSTREAM SNP Somatic 2 0.132 SQHIGH 12 39 51 0 41 41 Cosmic_Gene C C A C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 84461|2874 17 7222360 7222360 34 NBL diagnosis snv POLR2A missense R532L NM_000937 30-PASPER POLR2A MISSENSE SNP Somatic PFAM:PF00623:RNA_pol_Rpb1_2 PFAM:PF04983:RNA_pol_Rpb1_3 5 0.172 SQHIGH 11 35 46 0 53 53 Cosmic_Gene G G T G G TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 5430 17 7402734 7402734 40 NBL diagnosis snv ZNF682 nonsense E457* NM_033196 30-PASPER ZNF682 NONSENSE SNP Somatic 17 0.817 SQHIGH 14 24 38 0 41 41 Cosmic_Gene C C A C C TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 91120 19 20116942 20116942 51 NBL diagnosis snv CLTCL1 missense P965S NM_007098 30-PASPER CLTCL1 MISSENSE SNP Somatic 9 0.269 SQHIGH 11 32 43 0 77 77 Cosmic_Gene G G A G G TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 8218 22 19207420 19207420 53 NBL diagnosis snv CELSR1 silent T625T NM_014246 30-PASPER CELSR1 SYNONYMOUS SNP Somatic -8 0.059 SQHIGH 5 54 59 0 60 60 Cosmic_Gene G G A G G TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 9620 22 46931193 46931193 16 NBL diagnosis snv ZNF630 missense P648R NM_001037735 30-PASPER ZNF630 MISSENSE,UTR SNP Somatic -2 0.092 SQHIGH 8 37 45 0 56 56 Cosmic_Gene G G C G G TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 57232 X 47917888 47917888 30 NBL diagnosis mnv NFAT5 splice_region T363_E8splice_region NM_138714 30-PASPER NFAT5 DONOR Sub Somatic -4 0.377 SQHIGH 6 19 25 0 26 26 AG AG TT AG AG TARGET-30-PASPER-01A-01D TARGET-30-PASPER-10A-01D 10725 16 69693806 69693807 20 NBL diagnosis snv ZNF44 silent T575T NM_001164276 30-PASREY ZNF44 SYNONYMOUS SNP Somatic -1 0.113 SQHIGH 5 19 24 0 30 30 Cosmic_Gene C C T C C TARGET-30-PASREY-01A-01D TARGET-30-PASREY-10A-01D 51710 19 12383489 12383489 19 NBL diagnosis snv STAG2 silent G1051G NM_001042749 30-PASREY STAG2 SYNONYMOUS SNP Somatic 19 0.955 SQHIGH 11 17 28 0 43 43 Cosmic_Gene T T G T T TARGET-30-PASREY-01A-01D TARGET-30-PASREY-10A-01D 10735 X 123220496 123220496 51 NBL diagnosis mnv WDR33 missense A1268_Q1269>AK NM_018383 30-PASREY WDR33 MISSENSE Sub Somatic -9 0.291 SQHIGH 8 45 53 0 50 50 GA GA TT GA GA TARGET-30-PASREY-01A-01D TARGET-30-PASREY-10A-01D 55339 2 128464103 128464104 24 NBL diagnosis snv VCAM1 missense S124G NM_001078 30-PASRFS VCAM1 MISSENSE SNP Somatic -8 0.076 SQHIGH 4 23 27 0 31 31 Cosmic_Gene A A G A A TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 7412 1 101188605 101188605 14 NBL diagnosis snv CSF1 missense A453E NM_000757 30-PASRFS CSF1 INTRON,MISSENSE SNP Somatic PFAM:PF05337:CSF-1 4 0.187 SQHIGH 14 46 60 0 54 54 Cosmic_Gene C C A C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 1435 1 110466601 110466601 43 NBL diagnosis snv TDRD5 missense D501Y NM_173533 30-PASRFS TDRD5 MISSENSE SNP Somatic PFAM:PF00567:TUDOR 17 0.836 SQHIGH 15 13 28 1 23 24 Cosmic_Gene G G T G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 163589 1 179605003 179605003 40 NBL diagnosis snv APOB silent K3155K NM_000384 30-PASRFS APOB SYNONYMOUS SNP Somatic 3 0.171 SQHIGH 10 30 40 0 71 71 Cosmic_Gene T T C T T TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 338 2 21230275 21230275 48 NBL diagnosis snv CCDC88A missense V1834G NM_001135597 30-PASRFS CCDC88A MISSENSE SNP Somatic 12 0.430 SQHIGH 7 14 21 0 27 27 Cosmic_Gene A A C A A TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 55704 2 55522780 55522780 28 NBL diagnosis snv LOC100507600 EXON E4_exon NM_002299 30-PASRFS LCT|LOC100507600 INTRON|UTR SNP Somatic 7 0.258 SQHIGH 28 37 65 0 64 64 Cosmic_Gene G G A G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 3938|100507600 2 136580456 136580456 99 NBL diagnosis snv NR4A2 missense R310C NM_006186 30-PASRFS NR4A2 MISSENSE SNP Somatic 9 0.311 SQHIGH 19 25 44 2 48 50 Cosmic_Gene G G A G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 4929 2 157184982 157184982 54 NBL diagnosis snv EXOG missense N221H NM_005107 30-PASRFS EXOG MISSENSE SNP Somatic -1 0.122 SQHIGH 4 20 24 0 46 46 A A C A A TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 9941 3 38565407 38565407 19 NBL diagnosis snv SPEF2 missense G1581A NM_024867 30-PASRFS SPEF2 MISSENSE SNP Somatic 16 0.725 SQHIGH 21 28 49 0 52 52 Cosmic_Gene G G C G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 79925 5 35795809 35795809 78 NBL diagnosis snv BDP1 missense M2468I NM_018429 30-PASRFS BDP1 MISSENSE SNP Somatic 14 0.566 SQHIGH 8 9 17 0 40 40 Cosmic_Gene G G T G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 55814 5 70855972 70855972 48 NBL diagnosis snv ABLIM3 missense L105R NM_001301027 30-PASRFS ABLIM3 INTRON SNP Somatic 2 0.158 SQHIGH 5 59 65 0 63 63 Cosmic_Gene T T G T T TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 22885 5 148578640 148578640 15 NBL diagnosis snv CLK4 silent I148I NM_020666 30-PASRFS CLK4 SYNONYMOUS SNP Somatic 10 0.344 SQHIGH 12 33 45 0 46 46 Cosmic_Gene G G T G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 57396 5 178044376 178044376 40 NBL diagnosis snv LSM2 missense N59S NM_021177 30-PASRFS VARS|LSM2 TSS-UPSTREAM|MISSENSE SNP Somatic 5 0.204 SQHIGH 17 71 88 0 60 60 Cosmic_Gene T T C T T TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 7407|57819 6 31765646 31765646 41 NBL diagnosis snv RHAG missense Q35K NM_000324 30-PASRFS RHAG MISSENSE SNP Somatic PFAM:PF00909:Ammonium_transp 9 0.311 SQHIGH 11 29 40 0 49 49 Cosmic_Gene G G T G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 6005 6 49604423 49604423 42 NBL diagnosis snv THBS2 missense G1086E NM_003247 30-PASRFS THBS2 MISSENSE SNP Somatic PFAM:PF05735:TSP_C -10 0.067 SQHIGH 3 15 18 0 46 46 Cosmic_Gene C C T C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 7058 6 169622308 169622308 17 NBL diagnosis snv GLI3 silent G1153G NM_000168 30-PASRFS GLI3 SYNONYMOUS SNP Somatic 14 0.566 SQHIGH 8 15 23 0 27 27 Cosmic_Gene G G T G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 2737 7 42005212 42005212 30 NBL diagnosis snv MUC17 silent P2039P NM_001040105 30-PASRFS MUC17 SYNONYMOUS SNP Somatic 2 0.158 SQHIGH 29 57 86 0 50 50 Cosmic_Gene T T C T T TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 140453 7 100680814 100680814 67 NBL diagnosis snv LOC100132891 EXON E13_exon NM_007332 30-PASRFS TRPA1|LOC100132891 INTRON|UTR SNP dbsnp.132:rs117786400 Somatic 4 0.187 SQHIGH 6 27 33 0 48 48 Cosmic_Gene G G C G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 8989|100132891 8 72965722 72965722 25 NBL diagnosis snv VPS13B missense D3375G NM_152564 30-PASRFS VPS13B MISSENSE SNP Somatic -5 0.092 SQHIGH 6 22 28 2 49 51 Cosmic_Gene A A G A A TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 157680 8 100865741 100865741 17 NBL diagnosis snv PIP4K2A silent Y210Y NM_005028 30-PASRFS PIP4K2A SYNONYMOUS SNP dbsnp.134:rs141629755 Somatic PFAM:PF01504:PIP5K 5 0.204 SQHIGH 6 26 32 0 38 38 Cosmic_Gene G G A G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 5305 10 22862249 22862249 22 NBL diagnosis snv ASAH2 missense T37A NM_019893 30-PASRFS ASAH2 MISSENSE SNP Somatic 15 0.656 SQHIGH 19 17 36 0 31 31 T T C T T TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 56624 10 52008262 52008262 64 NBL diagnosis snv OR5T1 missense P5A NM_001004745 30-PASRFS OR5T1 MISSENSE SNP Somatic 15 0.656 SQHIGH 12 13 25 0 31 31 Cosmic_Gene C C G C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 390155 11 56043127 56043127 50 NBL diagnosis snv OR5T1 missense V189L NM_001004745 30-PASRFS OR5T1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -3 0.104 SQHIGH 8 25 33 0 54 54 Cosmic_Gene G G C G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 390155 11 56043679 56043679 36 NBL diagnosis snv CASC1 splice G2_E2splice NM_018272 30-PASRFS CASC1|LYRM5 DISRUPT,INTRON|TSS-UPSTREAM SNP Somatic -1 0.122 SQHIGH 6 11 17 1 27 28 Cosmic_Gene T T C T T TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 55259|144363 12 25343567 25343567 21 NBL diagnosis snv FICD missense R118H NM_007076 30-PASRFS FICD MISSENSE SNP dbsnp.134:rs150847777 Somatic 1 0.143 SQHIGH 35 68 103 0 59 59 G G A G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 11153 12 108912228 108912228 80 NBL diagnosis snv WDHD1 missense S383A NM_007086 30-PASRFS WDHD1 MISSENSE SNP Somatic 8 0.283 SQHIGH 12 12 24 0 25 25 Cosmic_Gene A A C A A TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 11169 14 55462327 55462327 45 NBL diagnosis snv ZNF770 missense C29F NM_014106 30-PASRFS ZNF770 MISSENSE SNP Somatic 7 0.258 SQHIGH 11 8 19 0 18 18 Cosmic_Gene C C A C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 54989 15 35275550 35275550 41 NBL diagnosis snv TLN2 silent L1133L NM_015059 30-PASRFS TLN2 SYNONYMOUS SNP Somatic 8 0.283 SQHIGH 20 33 53 0 41 41 Cosmic_Gene G G A G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 83660 15 63029117 63029117 58 NBL diagnosis snv UMOD missense S16P NM_003361 30-PASRFS UMOD MISSENSE SNP Somatic 15 0.656 SQHIGH 22 19 41 0 51 51 Cosmic_Gene A A G A A TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 7369 16 20362014 20362014 96 NBL diagnosis snv ANKS4B missense E151G NM_145865 30-PASRFS ANKS4B MISSENSE SNP Somatic -7 0.081 SQHIGH 10 43 53 1 41 42 Cosmic_Gene A A G A A TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 257629 16 21261339 21261339 19 NBL diagnosis snv SALL1 missense A652T NM_002968 30-PASRFS SALL1 MISSENSE SNP Somatic 3 0.171 SQHIGH 25 28 53 0 31 31 Cosmic_Gene C C T C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 6299 16 51174179 51174179 62 NBL diagnosis snv SPIRE2 nonsense E349* NM_032451 30-PASRFS SPIRE2 NONSENSE SNP Somatic 12 0.430 SQHIGH 13 6 19 0 23 23 Cosmic_Gene G G T G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 84501 16 89922587 89922587 60 NBL diagnosis snv MYO15A silent R938R NM_016239 30-PASRFS MYO15A SYNONYMOUS SNP Somatic 1 0.143 SQHIGH 14 16 30 1 20 21 Cosmic_Gene C C A C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 51168 17 18024928 18024928 30 NBL diagnosis snv WIPF2 missense R184W NM_133264 30-PASRFS WIPF2 MISSENSE SNP Somatic 6 0.232 SQHIGH 9 26 35 0 21 21 Cosmic_Gene C C T C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 147179 17 38420978 38420978 20 NBL diagnosis snv TEX14 missense A357S NM_198393 30-PASRFS TEX14 MISSENSE SNP Somatic PFAM:PF03109:ABC1 10 0.344 SQHIGH 51 63 114 0 53 53 Cosmic_Gene C C A C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 56155 17 56688637 56688637 105 NBL diagnosis snv FOXK2 silent V557V NM_004514 30-PASRFS FOXK2 SYNONYMOUS SNP Somatic 6 0.232 SQHIGH 26 81 107 0 30 30 G G T G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 3607 17 80545033 80545033 31 NBL diagnosis snv LOXHD1 missense E806K NM_144612 30-PASRFS LOXHD1 MISSENSE SNP Somatic 13 0.483 SQHIGH 24 29 53 0 43 43 C C T C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 125336 18 44146241 44146241 75 NBL diagnosis snv MBD1 missense K109N NM_015846 30-PASRFS MBD1 MISSENSE SNP Somatic 9 0.311 SQHIGH 22 33 55 0 34 34 Cosmic_Gene C C A C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 4152 18 47803267 47803267 55 NBL diagnosis snv ARRDC2 missense A281T NM_015683 30-PASRFS ARRDC2 MISSENSE SNP Somatic PFAM:PF00339:Arrestin_N -4 0.098 SQHIGH 6 28 34 0 20 20 Cosmic_Gene G G A G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 27106 19 18120840 18120840 13 NBL diagnosis snv NUDT19 missense H340Q NM_001105570 30-PASRFS NUDT19 MISSENSE SNP Somatic 19 0.950 SQHIGH 15 17 32 0 38 38 C C A C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 390916 19 33202755 33202755 61 NBL diagnosis snv CSNK2A1 missense S277F NM_177559 30-PASRFS CSNK2A1 MISSENSE SNP Somatic PFAM:PF03109:ABC1 6 0.232 SQHIGH 21 40 61 0 54 54 Cosmic_Gene G G A G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 1457 20 468214 468214 66 NBL diagnosis snv KIF16B missense E1203G NM_024704 30-PASRFS KIF16B MISSENSE SNP Somatic -10 0.067 SQHIGH 10 44 54 0 52 52 Cosmic_Gene T T C T T TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 55614 20 16336988 16336988 31 NBL diagnosis snv SOGA1 missense E340K NM_080627 30-PASRFS SOGA1 MISSENSE SNP Somatic 17 0.836 SQHIGH 23 23 46 0 39 39 Cosmic_Gene C C T C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 140710 20 35457510 35457510 76 NBL diagnosis snv SLCO4A1 nonsense Q651* NM_016354 30-PASRFS LOC100127888|SLCO4A1 TSS-UPSTREAM|NONSENSE SNP Somatic PFAM:PF03137:OATP 7 0.258 SQHIGH 16 13 29 0 18 18 Cosmic_Gene C C T C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 100127888|28231 20 61300356 61300356 43 NBL diagnosis snv MAOB missense A439T NM_000898 30-PASRFS MAOB MISSENSE SNP Somatic 9 0.311 SQHIGH 13 24 37 0 49 49 Cosmic_Gene C C T C C TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 4129 X 43628586 43628586 54 NBL diagnosis mnv GRHL2 splice S298_E7splice NM_024915 30-PASRFS GRHL2 DISRUPT Sub Somatic -9 0.316 SQHIGH 9 60 69 0 35 35 Cosmic_Gene CA CA GT CA CA TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 79977 8 102589633 102589634 17 NBL diagnosis snv PCSK9 missense P445L NM_174936 30-PASSRN PCSK9 MISSENSE SNP Somatic 7 0.240 SQHIGH 9 3 12 0 19 19 Cosmic_Gene C C T C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 255738 1 55523862 55523862 50 NBL diagnosis snv SPAG17 missense A897T NM_206996 30-PASSRN SPAG17 MISSENSE SNP Somatic 11 0.366 SQHIGH 7 15 22 1 43 44 Cosmic_Gene C C T C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 200162 1 118598389 118598389 29 NBL diagnosis snv TP63 missense D121N NM_003722 30-PASSRN TP63 MISSENSE SNP dbsnp.132:rs111466227 Somatic -1 0.116 SQHIGH 3 18 21 0 37 37 Cosmic_Gene G G A G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 8626 3 189526097 189526097 14 NBL diagnosis snv TMPRSS11E missense Q47K NM_014058 30-PASSRN TMPRSS11E MISSENSE SNP Somatic 11 0.366 SQHIGH 19 17 36 0 50 50 Cosmic_Gene C C A C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 28983 4 69332351 69332351 88 NBL diagnosis snv KIAA1109 missense R3648H NM_015312 30-PASSRN KIAA1109 MISSENSE SNP Somatic 20 0.974 SQHIGH 12 16 28 0 45 45 Cosmic_Gene G G A G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 84162 4 123246423 123246423 58 NBL diagnosis snv MAML1 missense S838F NM_014757 30-PASSRN MAML1 MISSENSE SNP Somatic -9 0.060 SQHIGH 4 15 19 0 24 24 Cosmic_Gene C C T C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 9794 5 179201340 179201340 15 NBL diagnosis snv MUC22 missense E1424D NM_001198815 30-PASSRN MUC22 MISSENSE SNP Somatic -5 0.082 SQHIGH 4 6 10 0 15 15 G G C G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 100507679 6 30997480 30997480 18 NBL diagnosis snv GSTA1 nonsense Y79* NM_145740 30-PASSRN GSTA1 NONSENSE SNP Somatic -10 0.055 SQHIGH 5 14 19 0 16 16 Cosmic_Gene G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 2938 6 52661015 52661015 14 NBL diagnosis snv GJB7 silent P163P NM_198568 30-PASSRN GJB7 SYNONYMOUS SNP Somatic PFAM:PF10582:Connexin_CCC 11 0.366 SQHIGH 11 17 28 0 43 43 G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 375519 6 87994142 87994142 51 NBL diagnosis snv RSPH4A missense R352I NM_001010892 30-PASSRN RSPH4A MISSENSE SNP Somatic PFAM:PF04712:Radial_spoke 16 0.667 SQHIGH 12 20 32 0 57 57 G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 345895 6 116948925 116948925 60 NBL diagnosis snv GPRC6A splice V167M NM_148963 30-PASSRN GPRC6A MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor 15 0.597 SQHIGH 21 21 42 0 33 33 Cosmic_Gene C C T C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 222545 6 117128369 117128369 66 NBL diagnosis snv THSD7A missense R462L NM_015204 30-PASSRN THSD7A MISSENSE SNP Somatic 11 0.366 SQHIGH 14 8 22 0 37 37 Cosmic_Gene C C A C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 221981 7 11630155 11630155 76 NBL diagnosis snv CPVL missense Q306K NM_031311 30-PASSRN CPVL MISSENSE SNP Somatic PFAM:PF00450:Peptidase_S10 14 0.543 SQHIGH 12 23 35 0 29 29 Cosmic_Gene G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 54504 7 29105686 29105686 36 NBL diagnosis snv MRPL32 missense H115R NM_031903 30-PASSRN MRPL32 MISSENSE SNP Somatic PFAM:PF01783:Ribosomal_L32p 11 0.366 SQHIGH 12 21 33 0 32 32 A A G A A TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 64983 7 42976952 42976952 41 NBL diagnosis snv ZPBP missense N264Y NM_007009 30-PASSRN ZPBP MISSENSE SNP Somatic PFAM:PF07354:Sp38 0 0.127 SQHIGH 9 4 13 0 23 23 T T A T T TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 11055 7 50023109 50023109 51 NBL diagnosis snv PCLO missense R4350I NM_033026 30-PASSRN PCLO MISSENSE SNP Somatic 20 0.974 SQHIGH 21 17 38 0 58 58 Cosmic_Gene C C A C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 27445 7 82544253 82544253 104 NBL diagnosis snv ARPC1A silent V222V NM_006409 30-PASSRN ARPC1A SYNONYMOUS SNP Somatic PFAM:PF00400:WD40 3 0.167 SQHIGH 6 10 16 0 22 22 Cosmic_Gene C C G C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 10552 7 98951697 98951697 25 NBL diagnosis snv SND1 missense Y394C NM_014390 30-PASSRN SND1 MISSENSE SNP Somatic 4 0.182 SQHIGH 13 19 32 0 28 28 Cosmic_Gene A A G A A TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 27044 7 127447566 127447566 42 NBL diagnosis snv ZFAT missense C911F NM_020863 30-PASSRN ZFAT MISSENSE SNP Somatic 15 0.597 SQHIGH 9 16 25 0 37 37 Cosmic_Gene C C A C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 57623 8 135596230 135596230 40 NBL diagnosis snv PLEC missense E2865D NM_000445 30-PASSRN PLEC MISSENSE SNP Somatic PFAM:PF00681:Plectin -2 0.105 SQHIGH 6 7 13 0 13 13 Cosmic_Gene C C A C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 5339 8 144995475 144995475 21 NBL diagnosis snv RCL1 nonsense R63* NM_005772 30-PASSRN RCL1 NONSENSE SNP Somatic 5 0.199 SQHIGH 6 10 16 0 29 29 C C T C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 10171 9 4823598 4823598 30 NBL diagnosis snv SPATA31E1 missense A235E NM_178828 30-PASSRN SPATA31E1 MISSENSE SNP Somatic 7 0.240 SQHIGH 8 27 35 0 38 38 Cosmic_Gene C C A C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 286234 9 90500106 90500106 28 NBL diagnosis snv OR13C4 silent P21P NM_001001919 30-PASSRN OR13C4 SYNONYMOUS SNP Somatic 2 0.153 SQHIGH 22 16 38 0 45 45 Cosmic_Gene G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 138804 9 107289428 107289428 95 NBL diagnosis snv MCMBP silent L626L NM_024834 30-PASSRN MCMBP SYNONYMOUS SNP Somatic PFAM:PF09739:DUF2044 3 0.167 SQHIGH 7 7 14 0 14 14 Cosmic_Gene T T C T T TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 79892 10 121591037 121591037 25 NBL diagnosis snv PHC1 silent L155L NM_004426 30-PASSRN PHC1 SYNONYMOUS SNP Somatic 16 0.667 SQHIGH 20 16 36 0 41 41 Cosmic_Gene G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 1911 12 9075237 9075237 83 NBL diagnosis snv KIAA1033 missense R533H NM_015275 30-PASSRN KIAA1033 MISSENSE SNP Somatic -26 0.011 4 35 39 0 43 43 Cosmic_Gene G G A G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 23325 12 105534714 105534714 13 NBL diagnosis snv ZNF664 silent L214L NM_152437 30-PASSRN ZNF664-FAM101A|ZNF664 INTRON|SYNONYMOUS SNP Somatic -35 0.003 6 22 28 1 37 38 G G C G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 100533183|144348 12 124497333 124497333 17 NBL diagnosis snv PATL2 silent S107S NM_001145112 30-PASSRN PATL2 SYNONYMOUS SNP Somatic 6 0.218 SQHIGH 13 19 32 0 24 24 C C A C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 197135 15 44965558 44965558 37 NBL diagnosis snv PRSS8 missense P316Q NM_002773 30-PASSRN PRSS8 MISSENSE SNP Somatic -3 0.096 SQHIGH 6 14 20 0 29 29 G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 5652 16 31143415 31143415 26 NBL diagnosis snv IRF8 missense T80M NM_002163 30-PASSRN IRF8 MISSENSE SNP Somatic 17 0.760 SQHIGH 16 21 37 0 39 39 Cosmic_Gene C C T C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 3394 16 85942660 85942660 59 NBL diagnosis snv OR4D1 silent I126I NM_012374 30-PASSRN OR4D1|MSX2P1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF00001:7tm_1 13 0.462 SQHIGH 29 29 58 0 36 36 Cosmic_Gene C C A C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 26689|55545 17 56232892 56232892 77 NBL diagnosis snv SMG8 missense S366F NM_018149 30-PASSRN SMG8 MISSENSE SNP Somatic PFAM:PF10220:DUF2146 20 0.974 SQHIGH 15 24 39 0 43 43 Cosmic_Gene C C T C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 55181 17 57288509 57288509 56 NBL diagnosis snv RALBP1 splice Q485_E7splice NM_006788 30-PASSRN RALBP1 DISRUPT SNP Somatic 16 0.667 SQHIGH 10 19 29 0 41 41 Cosmic_Gene G G C G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 10928 18 9530940 9530940 43 NBL diagnosis snv SERPINB8 missense T236M NM_002640 30-PASSRN SERPINB8 MISSENSE SNP Somatic PFAM:PF00079:Serpin 3 0.167 SQHIGH 8 17 25 1 20 21 Cosmic_Gene C C T C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 5271 18 61652466 61652466 16 NBL diagnosis snv MCOLN1 silent R270R NM_020533 30-PASSRN MCOLN1 SYNONYMOUS SNP Somatic 14 0.543 SQHIGH 19 21 40 1 35 36 Cosmic_Gene G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 57192 19 7593076 7593076 54 NBL diagnosis snv MUC16 silent G12409G NM_024690 30-PASSRN MUC16 SYNONYMOUS SNP Somatic PFAM:PF01390:SEA -4 0.088 SQHIGH 4 13 17 0 18 18 Cosmic_Gene G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 94025 19 9021096 9021096 13 NBL diagnosis snv IGFL3 silent I111I NM_207393 30-PASSRN IGFL3 SYNONYMOUS SNP Somatic 11 0.366 SQHIGH 14 15 29 0 37 37 G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 388555 19 46627160 46627160 60 NBL diagnosis snv KCNJ14 silent G151G NM_013348 30-PASSRN KCNJ14 SYNONYMOUS SNP Somatic PFAM:PF07885:Ion_trans_2 6 0.218 SQHIGH 6 5 11 0 12 12 Cosmic_Gene C C T C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 3770 19 48965434 48965434 23 NBL diagnosis snv DNMT3B missense S52R NM_006892 30-PASSRN DNMT3B MISSENSE SNP Somatic 12 0.410 SQHIGH 9 9 18 0 24 24 Cosmic_Gene A A C A A TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 1789 20 31369170 31369170 40 NBL diagnosis snv ZNF217 missense S906R NM_006526 30-PASSRN ZNF217 MISSENSE SNP Somatic 8 0.264 SQHIGH 12 14 26 0 23 23 Cosmic_Gene G G T G G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 7764 20 52192585 52192585 40 NBL diagnosis snv TAS1R1 missense V393M NM_138697 30-PASSRS TAS1R1|ZBTB48 INTRON,MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF01094:ANF_receptor 6 0.234 SQHIGH 17 33 50 0 58 58 Cosmic_Gene G G A G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 80835|3104 1 6635369 6635369 64 NBL diagnosis snv MACF1 missense Q3604K NM_012090 30-PASSRS MACF1 MISSENSE SNP Somatic 13 0.489 SQHIGH 13 20 33 0 39 39 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 23499 1 39895606 39895606 51 NBL diagnosis snv ACOT11 silent G235G NM_015547 30-PASSRS ACOT11 SYNONYMOUS SNP Somatic 10 0.350 SQHIGH 23 42 65 0 65 65 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 26027 1 55063029 55063029 80 NBL diagnosis snv FLG2 missense Q989H NM_001014342 30-PASSRS LOC339400|FLG2 INTRON|MISSENSE SNP Somatic 5 0.202 SQHIGH 22 59 81 0 63 63 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 339400|388698 1 152327295 152327295 61 NBL diagnosis snv SPTA1 missense V1685E NM_003126 30-PASSRS SPTA1 MISSENSE SNP Somatic 2 0.152 SQHIGH 17 65 82 0 77 77 Cosmic_Gene A A T A A TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 6708 1 158607958 158607958 53 NBL diagnosis snv HMCN1 missense A962S NM_031935 30-PASSRS HMCN1 MISSENSE SNP Somatic PFAM:PF00047:ig 18 0.886 SQHIGH 20 16 36 0 27 27 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 83872 1 185953394 185953394 63 NBL diagnosis snv CNST splice_region D658_E11splice_region NM_152609 30-PASSRS CNST ACCEPTOR SNP Somatic -2 0.105 SQHIGH 10 39 49 1 30 31 G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 163882 1 246828998 246828998 16 NBL diagnosis snv OR11L1 missense L267F NM_001001959 30-PASSRS OR11L1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.234 SQHIGH 20 35 55 0 39 39 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 391189 1 248004398 248004398 54 NBL diagnosis snv PXDN missense R933C NM_012293 30-PASSRS PXDN MISSENSE SNP Somatic -3 0.097 SQHIGH 4 13 17 0 22 22 Cosmic_Gene G G A G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 7837 2 1652755 1652755 15 NBL diagnosis snv TTC27 missense A674E NM_017735 30-PASSRS TTC27 MISSENSE SNP dbsnp.131:rs79084280 Somatic -7 0.073 SQHIGH 6 56 62 0 60 60 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 55622 2 33036113 33036113 18 NBL diagnosis snv CNTNAP5 nonsense E1281* NM_130773 30-PASSRS CNTNAP5 NONSENSE SNP Somatic 9 0.318 SQHIGH 23 41 64 0 64 64 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 129684 2 125671785 125671785 80 NBL diagnosis snv TTN missense P12151T NM_001267550 30-PASSRS TTN INTRON SNP Somatic 4 0.185 SQHIGH 5 19 24 0 42 42 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 7273 2 179528435 179528435 23 NBL diagnosis snv FSIP2 missense M4266I NM_173651 30-PASSRS FSIP2 MISSENSE SNP Somatic 5 0.202 SQHIGH 6 23 29 0 28 28 G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 401024 2 186666564 186666564 19 NBL diagnosis snv CYP27A1 silent G122G NM_000784 30-PASSRS CYP27A1 SYNONYMOUS SNP dbsnp.86:rs1051087 Somatic PFAM:PF00067:p450 12 0.437 SQHIGH 22 32 54 0 64 64 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 1593 2 219674410 219674410 87 NBL diagnosis snv CAB39 missense S212N NM_016289 30-PASSRS CAB39 MISSENSE SNP Somatic PFAM:PF08569:Mo25 12 0.437 SQHIGH 9 27 36 0 59 59 Cosmic_Gene G G A G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 51719 2 231678771 231678771 41 NBL diagnosis snv DGKG nonsense E715* NM_001346 30-PASSRS DGKG NONSENSE SNP Somatic PFAM:PF00609:DAGK_acc 5 0.202 SQHIGH 11 37 48 0 50 50 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 1608 3 185882760 185882760 37 NBL diagnosis snv EVC2 silent T313T NM_147127 30-PASSRS EVC2 SYNONYMOUS SNP Somatic PFAM:PF12297:EVC2_like 13 0.489 SQHIGH 17 31 48 0 53 53 Cosmic_Gene G G A G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 132884 4 5667308 5667308 63 NBL diagnosis snv DSPP nonsense E397* NM_014208 30-PASSRS DSPP NONSENSE SNP Somatic 6 0.234 SQHIGH 15 46 61 1 41 42 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 1834 4 88535003 88535003 29 NBL diagnosis snv ARSJ silent G22G NM_024590 30-PASSRS ARSJ SYNONYMOUS SNP Somatic 7 0.264 SQHIGH 17 43 60 0 49 49 Cosmic_Gene T T C T T TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 79642 4 114899925 114899925 49 NBL diagnosis snv SEC24D missense N528K NM_014822 30-PASSRS SEC24D MISSENSE SNP Somatic -4 0.090 SQHIGH 8 24 32 0 29 29 G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 9871 4 119673881 119673881 24 NBL diagnosis snv ACSL1 missense T433K NM_001995 30-PASSRS ACSL1 MISSENSE SNP Somatic -3 0.097 SQHIGH 9 47 56 0 65 65 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 2180 4 185687106 185687106 32 NBL diagnosis snv BRD9 silent R127R NM_023924 30-PASSRS BRD9|TRIP13 SYNONYMOUS,UTR|TSS-UPSTREAM SNP Somatic -1 0.115 SQHIGH 10 30 40 1 36 37 G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 65980|9319 5 891291 891291 23 NBL diagnosis snv TERT missense A417S NM_198253 30-PASSRS TERT MISSENSE SNP Somatic -9 0.064 SQHIGH 7 15 22 0 12 12 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 7015 5 1293752 1293752 15 NBL diagnosis snv PDZD2 missense C1415F NM_178140 30-PASSRS PDZD2 MISSENSE SNP Somatic 11 0.388 SQHIGH 37 16 53 0 35 35 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 23037 5 32087798 32087798 118 NBL diagnosis snv VCAN silent P1753P NM_004385 30-PASSRS VCAN SYNONYMOUS,INTRON SNP Somatic 9 0.318 SQHIGH 22 31 53 1 70 71 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 1462 5 82834081 82834081 83 NBL diagnosis snv DIAPH1 missense M1199V NM_005219 30-PASSRS DIAPH1 MISSENSE SNP Somatic -9 0.064 SQHIGH 7 26 33 0 46 46 Cosmic_Gene T T C T T TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 1729 5 140903776 140903776 28 NBL diagnosis snv SKIV2L missense Q103R NM_006929 30-PASSRS SKIV2L|RDBP|MIR1236 MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 7 0.264 SQHIGH 28 42 70 0 59 59 Cosmic_Gene A A G A A TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 6499|7936|100302242 6 31928068 31928068 88 NBL diagnosis snv CRISP3 missense G164V NM_006061 30-PASSRS CRISP3 MISSENSE SNP Somatic 7 0.264 SQHIGH 11 31 42 0 32 32 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 10321 6 49700977 49700977 30 NBL diagnosis snv HYMAI EXON E1_exon NM_002656 30-PASSRS PLAGL1|HYMAI INTRON|UTR SNP Somatic -6 0.079 SQHIGH 6 27 33 0 32 32 Cosmic_Gene C C T C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 5325|57061 6 144329126 144329126 19 NBL diagnosis snv SDK1 silent L366L NM_152744 30-PASSRS SDK1 SYNONYMOUS SNP Somatic -7 0.073 SQHIGH 9 39 48 0 29 29 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 221935 7 3991500 3991500 20 NBL diagnosis snv SDK1 missense S1990R NM_152744 30-PASSRS SDK1 MISSENSE,UTR SNP Somatic -6 0.079 SQHIGH 15 50 65 0 55 55 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 221935 7 4273029 4273029 44 NBL diagnosis snv ZNF479 missense H371P NM_033273 30-PASSRS ZNF479 MISSENSE SNP Somatic -8 0.068 SQHIGH 15 77 92 0 53 53 Cosmic_Gene T T G T T TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 90827 7 57188010 57188010 32 NBL diagnosis snv C7orf62 missense L88F NM_152706 30-PASSRS ZNF804B|C7orf62 INTRON|MISSENSE SNP Somatic -6 0.079 SQHIGH 11 53 64 0 46 46 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 219578|219557 7 88423993 88423993 28 NBL diagnosis snv SSPO missense Q1008K NM_198455 30-PASSRS SSPO MISSENSE SNP Somatic PFAM:PF00094:VWD 13 0.489 SQHIGH 8 15 23 0 38 38 C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 23145 7 149482606 149482606 38 NBL diagnosis snv PCM1 missense L134V NM_006197 30-PASSRS PCM1 MISSENSE SNP Somatic 8 0.290 SQHIGH 14 23 37 0 29 29 Cosmic_Gene C C G C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 5108 8 17796306 17796306 41 NBL diagnosis snv EXTL3 missense V274I NM_001440 30-PASSRS EXTL3 MISSENSE SNP Somatic PFAM:PF03016:Exostosin 6 0.234 SQHIGH 16 60 76 0 63 63 Cosmic_Gene G G A G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 2137 8 28574396 28574396 45 NBL diagnosis snv ATP6V1H missense H370Q NM_015941 30-PASSRS ATP6V1H MISSENSE SNP Somatic 5 0.202 SQHIGH 7 28 35 0 39 39 G G C G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 51606 8 54682243 54682243 24 NBL diagnosis snv NDUFB9 missense W72R NM_005005 30-PASSRS NDUFB9|TATDN1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF05347:Complex1_LYR -2 0.105 SQHIGH 9 48 57 0 35 35 Cosmic_Gene T T C T T TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 4715|83940 8 125555440 125555440 20 NBL diagnosis snv GNA14 missense R23Q NM_004297 30-PASSRS GNA14 MISSENSE SNP Somatic 8 0.290 SQHIGH 10 33 43 1 27 28 Cosmic_Gene C C T C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 9630 9 80262642 80262642 16 NBL diagnosis snv OR13C5 missense P262H NM_001004482 30-PASSRS OR13C5 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -5 0.084 SQHIGH 7 34 41 0 44 44 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 138799 9 107360910 107360910 23 NBL diagnosis snv WAC silent P458P NM_016628 30-PASSRS WAC SYNONYMOUS,UTR SNP Somatic -7 0.073 SQHIGH 5 33 38 1 54 55 Cosmic_Gene T T C T T TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 51322 10 28900788 28900788 14 NBL diagnosis snv BMS1 missense L247V NM_014753 30-PASSRS BMS1 MISSENSE SNP Somatic PFAM:PF08142:AARP2CN 6 0.234 SQHIGH 11 29 40 0 61 61 Cosmic_Gene C C G C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 9790 10 43287177 43287177 48 NBL diagnosis snv SUPV3L1 silent L748L NM_003171 30-PASSRS SUPV3L1 SYNONYMOUS SNP Somatic -1 0.115 SQHIGH 4 33 37 0 48 48 Cosmic_Gene G G C G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 6832 10 70968674 70968674 15 NBL diagnosis snv MAT1A missense A118V NM_000429 30-PASSRS MAT1A MISSENSE SNP Somatic 6 0.234 SQHIGH 17 33 50 0 81 81 G G A G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 4143 10 82040488 82040488 80 NBL diagnosis snv ADD3 silent R463R NM_016824 30-PASSRS ADD3 SYNONYMOUS SNP Somatic 8 0.290 SQHIGH 11 31 42 0 43 43 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 120 10 111884018 111884018 37 NBL diagnosis snv ACSL5 silent A130A NM_016234 30-PASSRS ACSL5 SYNONYMOUS SNP Somatic 6 0.234 SQHIGH 16 39 55 0 50 50 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 51703 10 114158724 114158724 50 NBL diagnosis snv KIAA1598 missense L306P NM_001127211 30-PASSRS KIAA1598 MISSENSE SNP Somatic -8 0.068 SQHIGH 4 14 18 0 34 34 A A G A A TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 57698 10 118689455 118689455 19 NBL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 30-PASSRS KCNQ1 INTRON SNP Somatic -7 0.073 SQHIGH 6 24 30 1 41 42 Cosmic_Gene A A G A A TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 3784 11 2661543 2661543 17 NBL diagnosis snv OR51B4 missense L279I NM_033179 30-PASSRS OR51B4 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 15 0.655 SQHIGH 11 18 29 0 48 48 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 79339 11 5322342 5322342 53 NBL diagnosis snv TPP1 missense L47R NM_000391 30-PASSRS TPP1 MISSENSE SNP Somatic PFAM:PF09286:Pro-kuma_activ 2 0.152 SQHIGH 12 34 46 0 60 60 A A C A A TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 1200 11 6640096 6640096 48 NBL diagnosis snv SLC22A6 missense A238V NM_004790 30-PASSRS SLC22A6 MISSENSE SNP Somatic 19 0.947 SQHIGH 17 21 38 0 56 56 G G A G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 9356 11 62749398 62749398 79 NBL diagnosis snv GUCY2C missense E742A NM_004963 30-PASSRS GUCY2C MISSENSE SNP Somatic 10 0.350 SQHIGH 8 26 34 0 39 39 Cosmic_Gene T T G T T TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 2984 12 14781604 14781604 29 NBL diagnosis snv PCBP2-OT1 EXON E9_exon NM_005016 30-PASSRS PCBP2 INTRON SNP Somatic 3 0.167 SQHIGH 7 23 30 0 40 40 G G A G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 5094 12 53858689 53858689 28 NBL diagnosis snv GPR182 silent L245L NM_007264 30-PASSRS GPR182|HBCBP SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF00001:7tm_1 3 0.167 SQHIGH 11 37 48 1 41 42 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 11318|100130083 12 57389728 57389728 24 NBL diagnosis snv B4GALNT1 missense R366Q NM_001478 30-PASSRS B4GALNT1 MISSENSE SNP Somatic PFAM:PF01644:Chitin_synth_1 -4 0.090 SQHIGH 10 27 37 0 26 26 C C T C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 2583 12 58021951 58021951 26 NBL diagnosis snv VPS29 silent S113S NM_016226 30-PASSRS VPS29 SYNONYMOUS SNP Somatic PFAM:PF00149:Metallophos 3 0.167 SQHIGH 13 37 50 0 48 48 C C T C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 51699 12 110930893 110930893 42 NBL diagnosis snv EP400 missense A2873S NM_015409 30-PASSRS EP400 MISSENSE SNP Somatic 15 0.655 SQHIGH 48 28 76 0 61 61 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 57634 12 132551382 132551382 167 NBL diagnosis snv CCDC175 missense E417Q NM_001164399 30-PASSRS CCDC175 MISSENSE SNP Somatic 8 0.290 SQHIGH 6 14 20 0 48 48 Cosmic_Gene C C G C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 729665 14 60010096 60010096 35 NBL diagnosis snv HERC1 missense E4732D NM_003922 30-PASSRS HERC1 MISSENSE SNP Somatic 5 0.202 SQHIGH 14 64 78 0 84 84 Cosmic_Gene C C G C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 8925 15 63904654 63904654 47 NBL diagnosis snv HYDIN missense T2125S NM_001270974 30-PASSRS HYDIN MISSENSE SNP Somatic -6 0.079 SQHIGH 10 77 87 0 91 91 Cosmic_Gene G G C G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 54768 16 70986481 70986481 32 NBL diagnosis snv KCNH4 silent A236A NM_012285 30-PASSRS KCNH4 SYNONYMOUS SNP Somatic 4 0.185 SQHIGH 14 61 75 1 49 50 Cosmic_Gene G G C G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 23415 17 40328193 40328193 25 NBL diagnosis snv DDX42 missense Y844S NM_007372 30-PASSRS DDX42 MISSENSE SNP Somatic 11 0.388 SQHIGH 12 37 49 1 48 49 Cosmic_Gene A A C A A TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 11325 17 61895472 61895472 31 NBL diagnosis snv LPIN2 missense E312D NM_014646 30-PASSRS LPIN2 MISSENSE SNP Somatic 7 0.264 SQHIGH 8 26 34 0 33 33 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 9663 18 2937922 2937922 26 NBL diagnosis snv PTPRS missense S708C NM_002850 30-PASSRS PTPRS INTRON,MISSENSE SNP Somatic 0 0.125 SQHIGH 4 12 16 0 26 26 Cosmic_Gene T T A T T TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 5802 19 5231354 5231354 18 NBL diagnosis snv MUC16 silent S4159S NM_024690 30-PASSRS MUC16 SYNONYMOUS SNP Somatic -7 0.073 SQHIGH 10 54 64 0 77 77 Cosmic_Gene G G C G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 94025 19 9074969 9074969 36 NBL diagnosis snv MUC16 silent P1280P NM_024690 30-PASSRS MUC16 SYNONYMOUS SNP Somatic -7 0.073 SQHIGH 11 59 70 3 60 63 Cosmic_Gene A A G A A TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 94025 19 9087975 9087975 14 NBL diagnosis snv TYK2 missense E967K NM_003331 30-PASSRS TYK2 MISSENSE SNP Somatic 0 0.125 SQHIGH 6 25 31 0 30 30 Cosmic_Gene C C T C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 7297 19 10464727 10464727 19 NBL diagnosis snv ZNF613 missense K230N NM_001031721 30-PASSRS ZNF613 MISSENSE SNP Somatic 6 0.234 SQHIGH 17 45 62 0 49 49 Cosmic_Gene A A T A A TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 79898 19 52447826 52447826 48 NBL diagnosis snv ZNF808 missense T366N NM_001039886 30-PASSRS ZNF808 MISSENSE SNP Somatic 0 0.125 SQHIGH 10 37 47 0 37 37 C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 388558 19 53057266 53057266 27 NBL diagnosis snv PHF20 silent V857V NM_016436 30-PASSRS PHF20 SYNONYMOUS SNP Somatic -10 0.060 SQHIGH 8 66 74 0 44 44 Cosmic_Gene G G T G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 51230 20 34526889 34526889 17 NBL diagnosis snv SCAND1 silent G103G NM_016558 30-PASSRS SCAND1 SYNONYMOUS SNP Somatic -4 0.090 SQHIGH 8 54 62 0 53 53 A A G A A TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 51282 20 34541898 34541898 22 NBL diagnosis snv ADNP missense A677V NM_015339 30-PASSRS ADNP MISSENSE SNP Somatic 0 0.125 SQHIGH 13 72 85 1 50 51 Cosmic_Gene G G A G G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 23394 20 49509221 49509221 20 NBL diagnosis snv SLCO4A1 splice A266_E3splice NM_016354 30-PASSRS SLCO4A1 ACCEPTOR SNP Somatic -2 0.105 SQHIGH 8 47 55 0 39 39 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 28231 20 61290026 61290026 20 NBL diagnosis snv SLCO4A1 missense F268L NM_016354 30-PASSRS SLCO4A1 MISSENSE SNP Somatic PFAM:PF03137:OATP 3 0.167 SQHIGH 9 46 55 0 40 40 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 28231 20 61290036 61290036 23 NBL diagnosis snv CRLF2 missense A48S NM_022148 30-PASSRS CRLF2 INTRON,MISSENSE SNP Somatic 9 0.318 SQHIGH 7 14 21 0 51 51 Cosmic_Gene C C A C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 64109 X 1327739 1327739 41 NBL diagnosis snv ASMTL splice_region D134_E5splice_region NM_004192 30-PASSRS ASMTL INTRON SNP Somatic 17 0.839 SQHIGH 10 13 23 0 35 35 C C T C C TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 8623 X 1553906 1553906 47 NBL diagnosis snv SSX7 missense T77K NM_173358 30-PASSRS SSX7 MISSENSE SNP Somatic 7 0.264 SQHIGH 10 7 17 0 16 16 Cosmic_Gene G T G TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 280658 X 52681352 52681352 37 NBL diagnosis mnv SV2A splice_region G319_E4splice_region NM_014849 30-PASSRS SV2A DONOR Sub Somatic -5 0.361 SQHIGH 10 34 44 0 42 42 Cosmic_Gene GC GC AT GC GC TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 9900 1 149882372 149882373 32 NBL diagnosis mnv NAV3 missense T1080_S1081>TT NM_014903 30-PASSRS NAV3 MISSENSE Sub Somatic -5 0.361 SQHIGH 5 34 39 0 33 33 Cosmic_Gene CAG CAG AAC CAG CAG TARGET-30-PASSRS-01A-01D TARGET-30-PASSRS-10A-01D 89795 12 78513216 78513218 14 NBL diagnosis snv RNF212 missense R136Q NM_001193318 30-PASSWW RNF212 INTRON,MISSENSE SNP Somatic 4 0.173 SQHIGH 13 12 25 0 17 17 C C T C C TARGET-30-PASSWW-01A-01D TARGET-30-PASSWW-10A-01D 285498 4 1087642 1087642 37 NBL diagnosis snv HLA-DRA silent D184D NM_019111 30-PASSWW HLA-DRA SYNONYMOUS SNP Somatic 12 0.417 SQHIGH 20 14 34 1 28 29 Cosmic_Gene C C T C C TARGET-30-PASSWW-01A-01D TARGET-30-PASSWW-10A-01D 3122 6 32411185 32411185 58 NBL diagnosis snv SPI1 splice_region V112_E4splice_region NM_001080547 30-PASSWW SPI1 ACCEPTOR SNP Somatic 7 0.236 SQHIGH 10 11 21 1 20 21 Cosmic_Gene C C T C C TARGET-30-PASSWW-01A-01D TARGET-30-PASSWW-10A-01D 6688 11 47380563 47380563 27 NBL diagnosis snv TTLL9 missense S349I NM_001008409 30-PASSWW TTLL9 MISSENSE SNP Somatic PFAM:PF03133:TTL -3 0.085 SQHIGH 13 9 22 0 15 15 Cosmic_Gene G G T G G TARGET-30-PASSWW-01A-01D TARGET-30-PASSWW-10A-01D 164395 20 30525240 30525240 39 NBL diagnosis snv RIF1 splice_region T231_E7splice_region NM_018151 30-PASTCN RIF1 DONOR SNP Somatic -6 0.071 SQHIGH 9 29 38 1 51 52 Cosmic_Gene A A G A A TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 55183 2 152276897 152276897 28 NBL diagnosis snv SPEG missense R2745G NM_005876 30-PASTCN LOC100507611|SPEG INTRON|MISSENSE SNP Somatic 0 0.112 SQHIGH 5 20 25 0 33 33 Cosmic_Gene A A G A A TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 100507611|10290 2 220353859 220353859 19 NBL diagnosis snv ASIC4 missense L201Q NM_182847 30-PASTCN LOC100507611|ACCN4 INTRON|MISSENSE SNP Somatic PFAM:PF00858:ASC 20 0.999 SQHIGH 17 21 38 1 38 39 Cosmic_Gene T T A T T TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 100507611|55515 2 220379667 220379667 52 NBL diagnosis snv DCP1A silent V125V NM_018403 30-PASTCN DCP1A SYNONYMOUS SNP Somatic 12 0.403 SQHIGH 23 5 28 0 74 74 C C A C C TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 55802 3 53346406 53346406 176 NBL diagnosis snv ABI3BP missense T566S NM_015429 30-PASTCN ABI3BP MISSENSE SNP Somatic 10 0.318 SQHIGH 13 17 30 0 39 39 Cosmic_Gene G G C G G TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 25890 3 100523686 100523686 55 NBL diagnosis snv PDGFC silent V84V NM_016205 30-PASTCN PDGFC SYNONYMOUS,UTR SNP Somatic 8 0.258 SQHIGH 5 5 10 0 34 34 Cosmic_Gene T T C T T TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 56034 4 157771435 157771435 36 NBL diagnosis snv MROH2B missense S1515I NM_173489 30-PASTCN MROH2B MISSENSE SNP Somatic 14 0.534 SQHIGH 19 27 46 0 51 51 Cosmic_Gene C C A C C TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 133558 5 40999820 40999820 72 NBL diagnosis snv SLC22A2 missense V450I NM_003058 30-PASTCN SLC22A2 MISSENSE SNP Somatic 9 0.285 SQHIGH 23 30 53 0 52 52 Cosmic_Gene C C T C C TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 6582 6 160663366 160663366 81 NBL diagnosis snv CHMP4C missense K72N NM_152284 30-PASTCN CHMP4C MISSENSE SNP Somatic PFAM:PF03357:Snf7 17 0.829 SQHIGH 29 34 63 0 57 57 Cosmic_Gene G G T G G TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 92421 8 82665324 82665324 99 NBL diagnosis snv GLI4 missense E9D NM_138465 30-PASTCN GLI4 MISSENSE SNP Somatic 13 0.457 SQHIGH 23 27 50 0 38 38 G G T G G TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 2738 8 144351593 144351593 69 NBL diagnosis snv TET1 missense I306M NM_030625 30-PASTCN TET1 MISSENSE SNP Somatic 17 0.829 SQHIGH 21 28 49 0 59 59 Cosmic_Gene A A G A A TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 80312 10 70333013 70333013 85 NBL diagnosis snv ARHGAP20 silent C577C NM_020809 30-PASTCN ARHGAP20 SYNONYMOUS SNP Somatic 17 0.829 SQHIGH 24 8 32 0 50 50 Cosmic_Gene G G A G G TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 57569 11 110451939 110451939 135 NBL diagnosis snv ISL2 splice_region D171_E4splice_region NM_145805 30-PASTCN ISL2 ACCEPTOR SNP Somatic 18 0.878 SQHIGH 17 18 35 0 33 33 G G A G G TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 64843 15 76632613 76632613 60 NBL diagnosis snv MYO1F silent G670G NM_012335 30-PASTCN MYO1F SYNONYMOUS SNP Somatic 3 0.149 SQHIGH 13 17 30 0 45 45 Cosmic_Gene C C G C C TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 4542 19 8601169 8601169 60 NBL diagnosis snv AXL missense V98L NM_021913 30-PASTCN AXL MISSENSE SNP Somatic 15 0.628 SQHIGH 32 38 70 0 59 59 Cosmic_Gene G G T G G TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 558 19 41726747 41726747 104 NBL diagnosis snv GAB4 splice_region R229_E3splice_region NM_001037814 30-PASTCN GAB4 DONOR SNP Somatic 7 0.233 SQHIGH 9 24 33 0 41 41 Cosmic_Gene C C A C C TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 128954 22 17468846 17468846 35 NBL diagnosis snv AKAP4 missense C43Y NM_003886 30-PASTCN AKAP4 MISSENSE SNP Somatic PFAM:PF05716:AKAP_110 14 0.534 SQHIGH 8 1 9 1 22 23 Cosmic_Gene C T C TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 8852 X 49962241 49962241 51 NBL diagnosis snv SH3BGRL nonsense Y63* NM_003022 30-PASTCN SH3BGRL NONSENSE SNP Somatic 18 0.878 SQHIGH 21 5 26 0 26 26 Cosmic_Gene C A C TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 6451 X 80532626 80532626 95 NBL diagnosis mnv HYKK missense G103D NM_001013619 30-PASTCN HYKK MISSENSE Sub Somatic PFAM:PF03109:ABC1 -3 0.429 SQHIGH 13 37 50 0 45 45 GA GA AT GA GA TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 123688 15 78805738 78805739 40 NBL diagnosis snv UBR4 missense E2768G NM_020765 30-PASTKC UBR4 MISSENSE SNP Somatic -6 0.085 SQHIGH 12 40 52 1 46 47 Cosmic_Gene T T C T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 23352 1 19468148 19468148 28 NBL diagnosis snv ASAP3 splice_region L116_E3splice_region NM_017707 30-PASTKC ASAP3 DONOR SNP Somatic 5 0.205 SQHIGH 22 45 67 0 48 48 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 55616 1 23782368 23782368 59 NBL diagnosis snv ZDHHC18 silent R262R NM_032283 30-PASTKC ZDHHC18 SYNONYMOUS SNP Somatic 13 0.482 SQHIGH 28 34 62 0 55 55 C C G C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 84243 1 27177050 27177050 94 NBL diagnosis snv GDAP2 silent P131P NM_017686 30-PASTKC GDAP2 SYNONYMOUS SNP Somatic -3 0.104 SQHIGH 5 20 25 0 39 39 Cosmic_Gene A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 54834 1 118455229 118455229 22 NBL diagnosis snv ARNT missense Q162P NM_001668 30-PASTKC ARNT MISSENSE SNP Somatic 12 0.428 SQHIGH 15 25 40 1 38 39 Cosmic_Gene T T G T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 405 1 150811918 150811918 41 NBL diagnosis snv MUC1 silent V58V NM_002456 30-PASTKC MUC1|MIR92B SYNONYMOUS,INTRON|TSS-UPSTREAM SNP Somatic PFAM:PF01390:SEA 3 0.171 SQHIGH 14 22 36 0 26 26 Cosmic_Gene G G C G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 4582|693235 1 155160747 155160747 39 NBL diagnosis snv CD1D splice V203_E5splice NM_001766 30-PASTKC CD1D DISRUPT SNP Somatic 18 0.877 SQHIGH 18 19 37 0 40 40 Cosmic_Gene G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 912 1 158152667 158152667 70 NBL diagnosis snv DDR2 silent V643V NM_001014796 30-PASTKC DDR2 SYNONYMOUS SNP Somatic -1 0.121 SQHIGH 9 48 57 0 68 68 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 4921 1 162745514 162745514 32 NBL diagnosis snv C1orf105 missense R168G NM_139240 30-PASTKC C1orf105 MISSENSE SNP Somatic 6 0.233 SQHIGH 14 37 51 0 32 32 Cosmic_Gene C C G C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 92346 1 172437684 172437684 33 NBL diagnosis snv DHX9 missense A484D NM_001357 30-PASTKC DHX9 MISSENSE,UTR SNP Somatic 17 0.822 SQHIGH 24 23 47 0 38 38 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 1660 1 182835697 182835697 77 NBL diagnosis snv HMCN1 silent Q2205Q NM_031935 30-PASTKC HMCN1 SYNONYMOUS SNP Somatic 5 0.205 SQHIGH 9 24 33 0 20 20 Cosmic_Gene A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 83872 1 186022121 186022121 21 NBL diagnosis snv PIGR missense Y166H NM_002644 30-PASTKC PIGR MISSENSE SNP Somatic 6 0.233 SQHIGH 21 61 82 2 43 45 Cosmic_Gene A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 5284 1 207110989 207110989 27 NBL diagnosis snv USH2A missense L2015P NM_206933 30-PASTKC USH2A MISSENSE SNP Somatic PFAM:PF00041:fn3 -7 0.078 SQHIGH 10 57 67 0 28 28 Cosmic_Gene A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7399 1 216243448 216243448 16 NBL diagnosis snv PGBD2 nonsense Q167* NM_170725 30-PASTKC PGBD2 INTRON,NONSENSE SNP Somatic 5 0.205 SQHIGH 16 57 73 0 31 31 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 267002 1 249211282 249211282 27 NBL diagnosis snv BIRC6 missense E875G NM_016252 30-PASTKC BIRC6 MISSENSE SNP Somatic -23 0.021 5 28 33 0 49 49 Cosmic_Gene A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 57448 2 32640983 32640983 21 NBL diagnosis snv VIT missense E561Q NM_053276 30-PASTKC VIT MISSENSE SNP Somatic 10 0.345 SQHIGH 13 35 48 0 35 35 Cosmic_Gene G G C G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 5212 2 37035906 37035906 34 NBL diagnosis snv PLEKHH2 silent A558A NM_172069 30-PASTKC PLEKHH2 SYNONYMOUS SNP Somatic 17 0.822 SQHIGH 20 25 45 0 38 38 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 130271 2 43931143 43931143 64 NBL diagnosis snv SRBD1 missense G970V NM_018079 30-PASTKC SRBD1 MISSENSE SNP Somatic 9 0.311 SQHIGH 11 38 49 0 51 51 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 55133 2 45616528 45616528 37 NBL diagnosis snv CLHC1 missense N485S NM_152385 30-PASTKC CLHC1 MISSENSE SNP Somatic 14 0.556 SQHIGH 13 24 37 0 31 31 Cosmic_Gene T T C T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 130162 2 55404848 55404848 39 NBL diagnosis snv LRP1B missense R3361L NM_018557 30-PASTKC LRP1B MISSENSE SNP Somatic PFAM:PF00057:Ldl_recept_a 5 0.205 SQHIGH 7 16 23 0 22 22 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 53353 2 141202224 141202224 23 NBL diagnosis snv ZEB2 missense H1076Q NM_014795 30-PASTKC ZEB2 MISSENSE SNP Somatic 11 0.381 SQHIGH 13 29 42 0 47 47 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9839 2 145147435 145147435 47 NBL diagnosis snv NKTR nonsense Q508* NM_005385 30-PASTKC NKTR NONSENSE SNP Somatic 18 0.877 SQHIGH 15 18 33 0 34 34 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 4820 3 42678718 42678718 55 NBL diagnosis snv CCDC13 missense Q229H NM_144719 30-PASTKC CCDC13 MISSENSE SNP Somatic 18 0.877 SQHIGH 20 6 26 0 57 57 Cosmic_Gene C C G C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 152206 3 42788782 42788782 136 NBL diagnosis snv TRMT10C missense L91I NM_017819 30-PASTKC TRMT10C MISSENSE SNP Somatic -4 0.097 SQHIGH 7 20 27 0 22 22 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 54931 3 101283896 101283896 20 NBL diagnosis snv NWD2 missense H840Y NM_001144990 30-PASTKC NWD2 MISSENSE SNP Somatic 17 0.822 SQHIGH 31 11 42 0 59 59 C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 57495 4 37446128 37446128 163 NBL diagnosis snv LNX1 nonsense W483* NM_001126328 30-PASTKC LNX1 NONSENSE SNP Somatic 4 0.188 SQHIGH 17 39 56 0 29 29 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 84708 4 54347923 54347923 35 NBL diagnosis snv SORBS2 missense R62S NM_001145673 30-PASTKC SORBS2 INTRON,MISSENSE SNP Somatic 11 0.381 SQHIGH 21 32 53 0 48 48 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 8470 4 186598457 186598457 69 NBL diagnosis snv TRIO missense D194E NM_007118 30-PASTKC TRIO MISSENSE SNP Somatic 13 0.482 SQHIGH 11 20 31 0 36 36 Cosmic_Gene T T G T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7204 5 14290866 14290866 42 NBL diagnosis snv ADAMTS12 missense I1576T NM_030955 30-PASTKC ADAMTS12 MISSENSE SNP Somatic -7 0.078 SQHIGH 6 38 44 0 37 37 Cosmic_Gene A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 81792 5 33527351 33527351 17 NBL diagnosis snv WDR70 nonsense G344* NM_018034 30-PASTKC WDR70 NONSENSE SNP Somatic PFAM:PF00400:WD40 6 0.233 SQHIGH 7 17 24 0 16 16 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 55100 5 37605278 37605278 17 NBL diagnosis snv JAKMIP2 splice M1_E1splice NM_001282282 30-PASTKC JAKMIP2 DISRUPT SNP Somatic 16 0.710 SQHIGH 18 24 42 0 41 41 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9832 5 147162018 147162018 63 NBL diagnosis snv FAT2 silent R2560R NM_001447 30-PASTKC FAT2 SYNONYMOUS SNP Somatic 8 0.283 SQHIGH 19 36 55 0 52 52 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 2196 5 150923010 150923010 63 NBL diagnosis snv DPCR1 missense N351K NM_080870 30-PASTKC DPCR1 MISSENSE SNP Somatic 7 0.257 SQHIGH 20 31 51 0 30 30 T T A T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 135656 6 30917294 30917294 48 NBL diagnosis snv PRRC2A nonsense E107* NM_080686 30-PASTKC PRRC2A NONSENSE SNP Somatic PFAM:PF07001:BAT2_N 9 0.311 SQHIGH 14 27 41 0 29 29 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7916 6 31592066 31592066 37 NBL diagnosis snv MRPS18A silent V86V NM_018135 30-PASTKC MRPS18A SYNONYMOUS SNP Somatic PFAM:PF01084:Ribosomal_S18 15 0.635 SQHIGH 17 20 37 0 27 27 A A C A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 55168 6 43643349 43643349 49 NBL diagnosis snv HCRTR2 missense L150F NM_001526 30-PASTKC HCRTR2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -4 0.097 SQHIGH 5 11 16 0 17 17 Cosmic_Gene G G C G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 3062 6 55119981 55119981 17 NBL diagnosis snv SLC22A1 splice_region I224_E3splice_region NM_003057 30-PASTKC SLC22A1 INTRON SNP Somatic 3 0.171 SQHIGH 10 15 25 0 25 25 A A T A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 6580 6 160553428 160553428 35 NBL diagnosis snv AP5Z1 silent C86C NM_014855 30-PASTKC AP5Z1 SYNONYMOUS SNP Somatic 7 0.257 SQHIGH 11 20 31 1 26 27 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9907 7 4821277 4821277 26 NBL diagnosis snv PAPOLB missense G443A NM_020144 30-PASTKC RADIL|PAPOLB INTRON|MISSENSE SNP Somatic PFAM:PF04926:PAP_RNA-bind 19 0.947 SQHIGH 13 21 34 0 45 45 Cosmic_Gene C C G C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 55698|56903 7 4900114 4900114 55 NBL diagnosis snv DNAH11 missense L1656V NM_001277115 30-PASTKC DNAH11 MISSENSE SNP Somatic PFAM:PF08393:DHC_N2 5 0.205 SQHIGH 11 31 42 0 35 35 Cosmic_Gene C C G C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 8701 7 21695471 21695471 32 NBL diagnosis snv NACAD missense Q505H NM_001146334 30-PASTKC LOC100128364|NACAD TSS-UPSTREAM|MISSENSE SNP Somatic 0 0.132 SQHIGH 10 35 45 0 39 39 C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 100128364|23148 7 45124264 45124264 29 NBL diagnosis snv SAMD9L missense T508R NM_152703 30-PASTKC SAMD9L MISSENSE SNP Somatic 1 0.143 SQHIGH 11 55 66 0 65 65 Cosmic_Gene G G C G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 219285 7 92763762 92763762 35 NBL diagnosis snv MUC17 silent E763E NM_001040105 30-PASTKC MUC17 SYNONYMOUS SNP Somatic 7 0.257 SQHIGH 21 51 72 1 39 40 Cosmic_Gene G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 140453 7 100676986 100676986 36 NBL diagnosis snv MUC17 missense T2018I NM_001040105 30-PASTKC MUC17 MISSENSE SNP Somatic 5 0.205 SQHIGH 22 41 63 0 31 31 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 140453 7 100680750 100680750 45 NBL diagnosis snv PPP1R3A missense M545T NM_002711 30-PASTKC PPP1R3A MISSENSE SNP Somatic 6 0.233 SQHIGH 15 48 63 1 64 65 Cosmic_Gene A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 5506 7 113519513 113519513 41 NBL diagnosis snv GRM8 missense C538F NM_000845 30-PASTKC GRM8 MISSENSE,UTR SNP Somatic PFAM:PF07562:NCD3G -2 0.113 SQHIGH 5 40 45 0 35 35 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 2918 7 126173823 126173823 13 NBL diagnosis snv GRM8 missense H537P NM_000845 30-PASTKC GRM8 MISSENSE,UTR SNP Somatic PFAM:PF07562:NCD3G 2 0.157 SQHIGH 5 34 39 0 31 31 Cosmic_Gene T T G T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 2918 7 126173826 126173826 13 NBL diagnosis snv FBXO25 missense W269L NM_183421 30-PASTKC FBXO25 MISSENSE SNP Somatic -2 0.113 SQHIGH 11 52 63 1 44 45 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 26260 8 408514 408514 20 NBL diagnosis snv ASH2L nonsense G255* NM_004674 30-PASTKC ASH2L NONSENSE SNP Somatic 19 0.947 SQHIGH 14 15 29 0 44 44 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9070 8 37972504 37972504 67 NBL diagnosis snv PXDNL silent R1293R NM_144651 30-PASTKC PXDNL SYNONYMOUS SNP Somatic -9 0.069 SQHIGH 6 23 29 1 30 31 Cosmic_Gene T T C T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 137902 8 52284455 52284455 14 NBL diagnosis snv CSMD3 splice_region P2872_E54splice_region NM_198123 30-PASTKC CSMD3 INTRON SNP Somatic -7 0.078 SQHIGH 6 6 12 0 9 9 Cosmic_Gene G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 114788 8 113308052 113308052 18 NBL diagnosis snv COL14A1 missense G269E NM_021110 30-PASTKC COL14A1 MISSENSE SNP Somatic 11 0.381 SQHIGH 9 14 23 0 34 34 Cosmic_Gene G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7373 8 121211734 121211734 40 NBL diagnosis snv GSDMC silent P260P NM_031415 30-PASTKC GSDMC SYNONYMOUS SNP Somatic PFAM:PF04598:Gasdermin 6 0.233 SQHIGH 16 40 56 0 57 57 Cosmic_Gene T T C T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 56169 8 130765008 130765008 54 NBL diagnosis snv NOL6 missense G743D NM_022917 30-PASTKC NOL6 INTRON,MISSENSE SNP Somatic PFAM:PF03813:Nrap 0 0.132 SQHIGH 19 17 36 0 24 24 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 65083 9 33466205 33466205 54 NBL diagnosis snv HINT2 silent V145V NM_032593 30-PASTKC HINT2|SPAG8 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 11 0.381 SQHIGH 21 32 53 0 38 38 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 84681|26206 9 35813108 35813108 58 NBL diagnosis snv BAAT missense A134S NM_001701 30-PASTKC BAAT MISSENSE SNP Somatic PFAM:PF04775:Bile_Hydr_Trans -7 0.078 SQHIGH 5 32 37 0 32 32 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 570 9 104133287 104133287 14 NBL diagnosis snv KIAA0368 missense L1299I NM_001080398 30-PASTKC KIAA0368 MISSENSE SNP Somatic 7 0.257 SQHIGH 13 30 43 0 34 34 G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 23392 9 114151922 114151922 37 NBL diagnosis snv LCN12 missense I96M NM_178536 30-PASTKC LCN12 MISSENSE SNP Somatic PFAM:PF00061:Lipocalin 3 0.171 SQHIGH 13 33 46 0 42 42 A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 286256 9 139848188 139848188 41 NBL diagnosis snv ZNF248 silent T578T NM_021045 30-PASTKC ZNF248 SYNONYMOUS SNP Somatic 3 0.171 SQHIGH 9 36 45 0 60 60 Cosmic_Gene T T A T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 57209 10 38120549 38120549 35 NBL diagnosis snv FAM133CP EXON E3_exon NM_001080512 30-PASTKC LOC728640|BICC1 UTR|INTRON SNP Somatic -6 0.085 SQHIGH 6 15 21 0 14 14 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 728640|80114 10 60476662 60476662 15 NBL diagnosis snv BLNK missense D94E NM_013314 30-PASTKC BLNK MISSENSE SNP Somatic 6 0.233 SQHIGH 9 26 35 0 42 42 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 29760 10 97987245 97987245 34 NBL diagnosis snv CNNM1 missense H659D NM_020348 30-PASTKC CNNM1 MISSENSE SNP Somatic 12 0.428 SQHIGH 23 36 59 0 52 52 C C G C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 26507 10 101122100 101122100 74 NBL diagnosis snv ZRANB1 missense L521V NM_017580 30-PASTKC ZRANB1 MISSENSE SNP Somatic PFAM:PF02338:OTU 10 0.345 SQHIGH 17 27 44 1 33 34 Cosmic_Gene T T G T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 54764 10 126671756 126671756 39 NBL diagnosis snv TRIM3 silent P265P NM_006458 30-PASTKC TRIM3 SYNONYMOUS SNP Somatic 6 0.233 SQHIGH 17 38 55 0 23 23 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 10612 11 6478161 6478161 30 NBL diagnosis snv CAT silent K96K NM_001752 30-PASTKC CAT SYNONYMOUS SNP Somatic 4 0.188 SQHIGH 13 56 69 0 39 39 Cosmic_Gene G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 847 11 34472584 34472584 27 NBL diagnosis snv TCN1 missense E344K NM_001062 30-PASTKC TCN1 MISSENSE SNP Somatic 3 0.171 SQHIGH 16 37 53 0 28 28 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 6947 11 59622216 59622216 34 NBL diagnosis snv BEST1 silent G286G NM_004183 30-PASTKC BEST1 SYNONYMOUS SNP Somatic PFAM:PF01062:Bestrophin 11 0.381 SQHIGH 14 33 47 0 37 37 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7439 11 61725761 61725761 40 NBL diagnosis snv SSH3 nonsense E371* NM_017857 30-PASTKC SSH3 NONSENSE SNP Somatic PFAM:PF00782:DSPc 5 0.205 SQHIGH 17 44 61 0 42 42 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 54961 11 67076917 67076917 43 NBL diagnosis snv SUV420H1 silent V800V NM_017635 30-PASTKC SUV420H1 SYNONYMOUS SNP Somatic 3 0.171 SQHIGH 13 67 80 0 51 51 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 51111 11 67925413 67925413 30 NBL diagnosis snv FGF3 silent E116E NM_005247 30-PASTKC FGF3 SYNONYMOUS SNP Somatic -1 0.121 SQHIGH 11 63 74 0 26 26 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 2248 11 69625445 69625445 15 NBL diagnosis snv POU2AF1 missense A39D NM_006235 30-PASTKC POU2AF1 MISSENSE SNP Somatic PFAM:PF09310:PD-C2-AF1 6 0.233 SQHIGH 9 4 13 0 17 17 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 5450 11 111229544 111229544 43 NBL diagnosis snv SLC6A13 nonsense R251* NM_016615 30-PASTKC SLC6A13 NONSENSE SNP Somatic PFAM:PF00209:SNF 14 0.556 SQHIGH 20 25 45 0 41 41 G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 6540 12 344336 344336 68 NBL diagnosis snv HOXC11 missense S14L NM_014212 30-PASTKC HOXC11|HOTAIR MISSENSE|TSS-UPSTREAM SNP Somatic 11 0.381 SQHIGH 18 18 37 0 38 38 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 3227|100124700 12 54367066 54367066 69 NBL diagnosis snv SDR9C7 missense L4P NM_148897 30-PASTKC SDR9C7 MISSENSE SNP Somatic -6 0.085 SQHIGH 9 48 57 1 56 57 Cosmic_Gene A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 121214 12 57328035 57328035 21 NBL diagnosis snv NR2C1 missense V320I NM_003297 30-PASTKC NR2C1 MISSENSE SNP Somatic -2 0.113 SQHIGH 9 38 47 0 41 41 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7181 12 95445545 95445545 26 NBL diagnosis snv FGD6 missense Q257E NM_018351 30-PASTKC FGD6 MISSENSE SNP Somatic 4 0.188 SQHIGH 15 66 81 0 50 50 Cosmic_Gene G G C G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 55785 12 95604291 95604291 34 NBL diagnosis snv FGD6 missense P227A NM_018351 30-PASTKC FGD6 MISSENSE SNP Somatic 6 0.233 SQHIGH 15 40 55 1 48 49 Cosmic_Gene G G C G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 55785 12 95604381 95604381 36 NBL diagnosis snv MYBPC1 missense G211V NM_002465 30-PASTKC MYBPC1 MISSENSE SNP Somatic 6 0.233 SQHIGH 23 38 61 0 30 30 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 4604 12 102030473 102030473 47 NBL diagnosis snv TRPV4 missense N445K NM_021625 30-PASTKC TRPV4 MISSENSE SNP Somatic 1 0.143 SQHIGH 12 28 40 0 20 20 Cosmic_Gene G G C G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 59341 12 110232290 110232290 24 NBL diagnosis snv FZD10 missense T248S NM_007197 30-PASTKC FLJ31485|FZD10 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01534:Frizzled 4 0.188 SQHIGH 13 50 63 0 43 43 Cosmic_Gene C C G C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 440119|11211 12 130648230 130648230 32 NBL diagnosis snv CTSG missense G222E NM_001911 30-PASTKC CTSG MISSENSE SNP Somatic 15 0.635 SQHIGH 12 24 36 0 43 43 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 1511 14 25042946 25042946 46 NBL diagnosis snv AREL1 missense E553G NM_001039479 30-PASTKC AREL1 MISSENSE SNP Somatic -7 0.078 SQHIGH 5 32 37 0 27 27 Cosmic_Gene T T C T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9870 14 75136780 75136780 12 NBL diagnosis snv CIPC nonsense E308* NM_033426 30-PASTKC CIPC NONSENSE SNP Somatic 3 0.171 SQHIGH 20 37 57 0 42 42 G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 85457 14 77580383 77580383 55 NBL diagnosis snv NRXN3 missense D454Y NM_001272020 30-PASTKC NRXN3 INTRON SNP Somatic 4 0.188 SQHIGH 21 29 50 0 45 45 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9369 14 80327753 80327753 70 NBL diagnosis snv NDN missense P48Q NM_002487 30-PASTKC NDN MISSENSE SNP Somatic 2 0.157 SQHIGH 8 13 21 0 17 17 G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 4692 15 23932222 23932222 24 NBL diagnosis snv DPP8 missense Y839F NM_130434 30-PASTKC DPP8 MISSENSE SNP Somatic PFAM:PF06342:DUF1057 15 0.635 SQHIGH 13 23 36 1 36 37 Cosmic_Gene T T A T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 54878 15 65743347 65743347 36 NBL diagnosis snv TLE3 splice E193_E8splice NM_005078 30-PASTKC TLE3 DISRUPT SNP Somatic -7 0.078 SQHIGH 8 44 52 0 37 37 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7090 15 70356810 70356810 20 NBL diagnosis snv AKAP13 missense V2185L NM_006738 30-PASTKC AKAP13 MISSENSE SNP Somatic 11 0.381 SQHIGH 13 33 46 0 34 34 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 11214 15 86266347 86266347 35 NBL diagnosis snv IGFALS missense Q418P NM_001146006 30-PASTKC IGFALS MISSENSE,UTR SNP Somatic 8 0.283 SQHIGH 9 17 26 1 20 21 T T G T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 3483 16 1841280 1841280 19 NBL diagnosis snv ANKS3 splice_region G192_E7splice_region NM_133450 30-PASTKC ANKS3 ACCEPTOR SNP Somatic -6 0.085 SQHIGH 9 57 66 0 52 52 T T C T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 124401 16 4764195 4764195 24 NBL diagnosis snv SEC14L5 missense L393M NM_014692 30-PASTKC SEC14L5 MISSENSE SNP Somatic 6 0.233 SQHIGH 6 15 21 1 21 22 C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9717 16 5053449 5053449 14 NBL diagnosis snv ZFHX3 missense S3004Y NM_006885 30-PASTKC ZFHX3 MISSENSE SNP Somatic 16 0.710 SQHIGH 29 39 68 0 45 45 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 463 16 72827570 72827570 77 NBL diagnosis snv MIR3182 EXON E7_exon NM_001257 30-PASTKC MIR3182|CDH13 UTR|INTRON SNP Somatic 8 0.283 SQHIGH 9 28 37 0 38 38 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 100422853|1012 16 83541986 83541986 hsa-mir-3182:MI0014224 30 NBL diagnosis snv PFAS missense A1251T NM_012393 30-PASTKC PFAS MISSENSE SNP Somatic 12 0.428 SQHIGH 15 33 48 0 33 33 Cosmic_Gene G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 5198 17 8172316 8172316 39 NBL diagnosis snv EPN2 missense F482L NM_148921 30-PASTKC EPN2 MISSENSE SNP Somatic 10 0.345 SQHIGH 22 25 47 0 42 42 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 22905 17 19235371 19235371 74 NBL diagnosis snv ASIC2 missense Q269H NM_001094 30-PASTKC ASIC2 MISSENSE SNP Somatic PFAM:PF00858:ASC 6 0.233 SQHIGH 14 38 52 0 35 35 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 40 17 31415908 31415908 35 NBL diagnosis snv C17orf98 nonsense Y131* NM_001080465 30-PASTKC C17orf98 NONSENSE SNP Somatic 5 0.205 SQHIGH 13 42 55 0 47 47 G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 388381 17 36991514 36991514 38 NBL diagnosis snv MPP3 splice K48_E4splice NM_001932 30-PASTKC MPP3 DISRUPT SNP Somatic 8 0.283 SQHIGH 17 55 72 0 49 49 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 4356 17 41908926 41908926 42 NBL diagnosis snv RNF43 missense W726L NM_017763 30-PASTKC RNF43 MISSENSE SNP Somatic 6 0.233 SQHIGH 44 80 124 0 39 39 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 54894 17 56434960 56434960 62 NBL diagnosis snv LLGL2 missense R748H NM_004524 30-PASTKC LLGL2 MISSENSE SNP dbsnp.126:rs35474687 Somatic -9 0.069 SQHIGH 14 87 101 0 35 35 Cosmic_Gene G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 3993 17 73567814 73567814 19 NBL diagnosis snv WBP2 splice_region E178_E6splice_region NM_012478 30-PASTKC UNC13D|WBP2 TSS-UPSTREAM|ACCEPTOR SNP dbsnp.134:rs143823210 Somatic 1 0.143 SQHIGH 32 60 92 0 48 48 Cosmic_Gene G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 201294|23558 17 73843697 73843697 68 NBL diagnosis snv DLGAP1-AS2 EXON E7_exon NM_004746 30-PASTKC DLGAP1 INTRON SNP Somatic -2 0.113 SQHIGH 4 16 20 0 33 33 Cosmic_Gene C C G C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9229 18 3609808 3609808 18 NBL diagnosis snv CXXC1 missense E173G NM_001101654 30-PASTKC MBD1|CXXC1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF02008:zf-CXXC -7 0.078 SQHIGH 8 35 43 2 43 45 Cosmic_Gene T T C T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 4152|30827 18 47812240 47812240 14 NBL diagnosis snv COL5A3 missense Q138K NM_015719 30-PASTKC COL5A3 MISSENSE SNP Somatic PFAM:PF00354:Pentaxin -10 0.065 SQHIGH 8 16 24 0 13 13 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 50509 19 10116497 10116497 17 NBL diagnosis snv CACNA1A missense R813W NM_001127221 30-PASTKC CACNA1A MISSENSE SNP Somatic 15 0.635 SQHIGH 17 19 36 0 20 20 Cosmic_Gene G G A G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 773 19 13410013 13410013 41 NBL diagnosis snv TMEM161A silent T394T NM_017814 30-PASTKC TMEM161A SYNONYMOUS SNP Somatic PFAM:PF10268:Tmemb_161AB -4 0.097 SQHIGH 6 10 16 0 12 12 Cosmic_Gene C C T C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 54929 19 19231578 19231578 17 NBL diagnosis snv CEACAM1 missense E397G NM_001712 30-PASTKC CEACAM1 INTRON,MISSENSE SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set -9 0.069 SQHIGH 5 34 39 0 42 42 Cosmic_Gene T T C T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 634 19 43023156 43023156 16 NBL diagnosis snv KCNN4 missense D404H NM_002250 30-PASTKC KCNN4 MISSENSE SNP Somatic 7 0.257 SQHIGH 18 43 61 0 49 49 Cosmic_Gene C C G C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 3783 19 44271769 44271769 52 NBL diagnosis snv CD33 silent G207G NM_001772 30-PASTKC CD33 SYNONYMOUS SNP Somatic PFAM:PF00047:ig 1 0.143 SQHIGH 11 50 61 0 49 49 C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 945 19 51729261 51729261 30 NBL diagnosis snv ZNF845 missense D246G NM_138374 30-PASTKC ZNF845 MISSENSE SNP Somatic -8 0.074 SQHIGH 11 43 54 2 44 46 A A G A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 91664 19 53854665 53854665 18 NBL diagnosis snv DUXA missense T13K NM_001012729 30-PASTKC DUXA MISSENSE SNP Somatic 15 0.635 SQHIGH 8 19 27 0 39 39 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 503835 19 57672153 57672153 34 NBL diagnosis snv PLCG1 missense V1139L NM_002660 30-PASTKC PLCG1 MISSENSE SNP Somatic 16 0.710 SQHIGH 15 22 37 1 50 51 Cosmic_Gene G G T G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 5335 20 39802312 39802312 55 NBL diagnosis snv SLC13A3 splice_region R307_E7splice_region NM_022829 30-PASTKC SLC13A3 ACCEPTOR SNP Somatic 9 0.311 SQHIGH 20 34 54 1 61 62 Cosmic_Gene A A C A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 64849 20 45217900 45217900 65 NBL diagnosis snv LAMA5 missense C859F NM_005560 30-PASTKC MIR4758|LAMA5 TSS-UPSTREAM|MISSENSE SNP Somatic -1 0.121 SQHIGH 19 18 37 1 32 33 Cosmic_Gene C C A C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 100616340|3911 20 60909584 60909584 54 NBL diagnosis snv RBM11 missense E61A NM_144770 30-PASTKC RBM11 MISSENSE SNP Somatic -8 0.074 SQHIGH 3 13 16 0 33 33 A A C A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 54033 21 15591969 15591969 15 NBL diagnosis snv KRTAP20-1 missense G17R NM_181615 30-PASTKC KRTAP20-1|KRTAP20-4|KRTAP6-1 MISSENSE|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 0 0.132 SQHIGH 6 28 34 0 60 60 Cosmic_Gene G G C G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 337975|100151643|337966 21 31988822 31988822 28 NBL diagnosis snv CELSR1 missense I515S NM_014246 30-PASTKC CELSR1 MISSENSE SNP Somatic 6 0.233 SQHIGH 14 45 59 0 33 33 Cosmic_Gene A A C A A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9620 22 46931524 46931524 30 NBL diagnosis snv FAM47C missense D873E NM_001013736 30-PASTKC FAM47C MISSENSE SNP Somatic 2 0.157 SQHIGH 7 1 8 0 10 10 Cosmic_Gene C A C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 442444 X 37029102 37029102 36 NBL diagnosis snv VSIG4 missense G333W NM_001257403 30-PASTKC VSIG4 UTR3 SNP Somatic 18 0.877 SQHIGH 16 4 20 0 23 23 C A C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 11326 X 65241974 65241974 77 NBL diagnosis snv RNF128 silent K131K NM_194463 30-PASTKC RNF128 SYNONYMOUS,INTRON SNP Somatic 9 0.311 SQHIGH 7 1 8 0 15 15 Cosmic_Gene G A G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 79589 X 105970536 105970536 45 NBL diagnosis snv TRPC5 silent L255L NM_012471 30-PASTKC TRPC5 SYNONYMOUS SNP Somatic 9 0.311 SQHIGH 6 0 6 0 3 3 Cosmic_Gene C G C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7224 X 111155654 111155654 19 NBL diagnosis mnv SLC34A2 missense Q25P NM_006424 30-PASTKC SLC34A2 MISSENSE Sub Somatic -9 0.341 SQHIGH 5 11 16 0 26 26 Cosmic_Gene AG AG CC AG AG TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 10568 4 25664196 25664197 23 NBL diagnosis complex PURG frameshift S169_L171fs NM_013357 30-PASTKC WRN|PURG TSS-UPSTREAM|NONSENSE Sub Somatic PFAM:PF04845:PurA PFAM:PF11680:DUF3276 -2 0.538 SQHIGH 20 34 54 0 90 90 Cosmic_Gene AGGACA AGGACA AT AGGACA AGGACA TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7486|29942 8 30889787 30889792 97 NBL diagnosis mnv IPO5 missense D156F NM_002271 30-PASTKC IPO5 MISSENSE Sub Somatic 0 0.640 SQHIGH 8 24 32 0 24 24 Cosmic_Gene GA GA TT GA GA TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 3843 13 98641363 98641364 21 NBL diagnosis mnv AKAP1 splice_region I761_E6splice_region NM_003488 30-PASTKC AKAP1 INTRON Sub Somatic -7 0.373 SQHIGH 35 62 97 0 54 54 Cosmic_Gene GC GC TT GC GC TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 8165 17 55192007 55192008 79 NBL diagnosis snv SLC41A1 missense K131N NM_173854 30-PASUCB SLC41A1 MISSENSE SNP Somatic 4 0.191 SQHIGH 32 51 83 0 55 55 Cosmic_Gene C C A C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 254428 1 205770168 205770168 84 NBL diagnosis snv CNTN6 missense T374M NM_014461 30-PASUCB CNTN6 MISSENSE SNP Somatic PFAM:PF00047:ig 8 0.291 SQHIGH 7 20 27 0 29 29 Cosmic_Gene C C T C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 27255 3 1369178 1369178 24 NBL diagnosis snv NUP210 missense Q1266H NM_024923 30-PASUCB NUP210 MISSENSE SNP Somatic -6 0.079 SQHIGH 6 38 44 0 33 33 Cosmic_Gene C C A C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 23225 3 13376999 13376999 15 NBL diagnosis snv RFTN1 missense R39G NM_015150 30-PASUCB RFTN1 MISSENSE SNP Somatic 9 0.321 SQHIGH 13 13 26 0 19 19 Cosmic_Gene G G C G G TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 23180 3 16535262 16535262 38 NBL diagnosis snv HPS3 missense L880F NM_032383 30-PASUCB HPS3 MISSENSE SNP Somatic 16 0.725 SQHIGH 16 15 31 1 38 39 Cosmic_Gene G G T G G TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 84343 3 148884871 148884871 58 NBL diagnosis snv OTOL1 silent G80G NM_001080440 30-PASUCB OTOL1 SYNONYMOUS SNP Somatic -4 0.092 SQHIGH 10 6 16 0 15 15 C C T C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 131149 3 161214835 161214835 37 NBL diagnosis snv MARVELD2 missense Q341K NM_001038603 30-PASUCB MARVELD2 MISSENSE SNP Somatic PFAM:PF01284:MARVEL -1 0.120 SQHIGH 11 45 56 0 37 37 C C A C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 153562 5 68716233 68716233 26 NBL diagnosis snv ZNF292 missense P2113T NM_015021 30-PASUCB ZNF292 MISSENSE SNP Somatic 17 0.829 SQHIGH 15 24 39 0 53 53 Cosmic_Gene C C A C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 23036 6 87969684 87969684 64 NBL diagnosis snv LOC101928140 EXON E9_exon NM_001135648 30-PASUCB PTPRK INTRON SNP Somatic 18 0.884 SQHIGH 18 17 35 0 26 26 Cosmic_Gene C C A C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 5796 6 128404833 128404833 55 NBL diagnosis snv WBSCR27 silent L125L NM_152559 30-PASUCB WBSCR27 SYNONYMOUS SNP Somatic 12 0.450 SQHIGH 17 24 41 0 45 45 Cosmic_Gene C C A C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 155368 7 73254757 73254757 64 NBL diagnosis snv ARHGEF10 missense D1218E NM_014629 30-PASUCB ARHGEF10 MISSENSE SNP Somatic 15 0.651 SQHIGH 13 26 39 0 44 44 Cosmic_Gene C C G C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 9639 8 1905048 1905048 48 NBL diagnosis snv TONSL splice E494_E11splice NM_013432 30-PASUCB TONSL MISSENSE SNP Somatic 5 0.210 SQHIGH 10 15 25 0 22 22 Cosmic_Gene C C T C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 4796 8 145665404 145665404 32 NBL diagnosis snv OR52D1 missense L119P NM_001005163 30-PASUCB OR52D1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 12 0.450 SQHIGH 27 28 56 0 81 82 Cosmic_Gene T T C T T TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 390066 11 5510292 5510292 128 NBL diagnosis snv OR5R1 silent A125A NM_001004744 30-PASUCB OR5R1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 -2 0.109 SQHIGH 9 41 50 0 48 48 Cosmic_Gene G G T G G TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 219479 11 56185334 56185334 28 NBL diagnosis snv MS4A7 missense L101P NM_021201 30-PASUCB MS4A7 MISSENSE SNP Somatic PFAM:PF04103:CD20 -29 0.009 6 36 42 0 41 41 Cosmic_Gene T T C T T TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 58475 11 60154209 60154209 19 NBL diagnosis snv LOC100129203 EXON E1_exon NM_144665 30-PASUCB LOC100129203|SESN3 TSS-UPSTREAM|INTRON SNP Somatic 13 0.507 SQHIGH 19 18 37 0 52 52 C C A C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 100129203|143686 11 94963619 94963619 88 NBL diagnosis snv PXN silent P322P NM_001243756 30-PASUCB PXN ACCEPTOR SNP Somatic 8 0.291 SQHIGH 16 24 40 0 44 44 Cosmic_Gene C C T C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 5829 12 120653086 120653086 60 NBL diagnosis snv KL missense A881G NM_004795 30-PASUCB KL MISSENSE SNP Somatic 16 0.725 SQHIGH 29 21 50 0 40 40 Cosmic_Gene C C G C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 9365 13 33635858 33635858 97 NBL diagnosis snv KCNK10 splice_region E332_E6splice_region NM_021161 30-PASUCB KCNK10 INTRON SNP Somatic 0 0.132 SQHIGH 18 2 20 2 40 42 Cosmic_Gene G T T G G TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 54207 14 88654302 88654302 107 NBL diagnosis snv GPR176 silent L308L NM_007223 30-PASUCB GPR176 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 -9 0.063 SQHIGH 4 18 22 0 25 25 Cosmic_Gene C C G C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 11245 15 40093957 40093957 14 NBL diagnosis snv PRSS27 splice G227_E6splice NM_031948 30-PASUCB PRSS27 ACCEPTOR SNP Somatic -3 0.100 SQHIGH 7 17 24 0 46 46 Cosmic_Gene G G T G G TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 83886 16 2762818 2762818 35 NBL diagnosis snv HEATR6 missense R930W NM_022070 30-PASUCB MIR4737|HEATR6 TSS-UPSTREAM|MISSENSE SNP Somatic -4 0.092 SQHIGH 14 59 73 0 21 21 Cosmic_Gene G G A G G TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 100616210|63897 17 58123572 58123572 17 NBL diagnosis snv FAM69C missense D299A NM_001044369 30-PASUCB LOC100505838|FAM69C TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF12260:PIP49_C 6 0.238 SQHIGH 19 34 53 0 60 60 T T G T T TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 100505838|125704 18 72109332 72109332 72 NBL diagnosis snv SIN3B missense R935S NM_015260 30-PASUCB SIN3B MISSENSE SNP Somatic 0 0.132 SQHIGH 10 13 23 0 23 23 Cosmic_Gene G G C G G TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 23309 19 16986982 16986982 36 NBL diagnosis snv LTBP4 splice_region E297_E6splice_region NM_001042544 30-PASUCB LTBP4 DONOR SNP Somatic -10 0.059 SQHIGH 8 31 39 2 40 42 Cosmic_Gene A A G A A TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 8425 19 41111564 41111564 15 NBL diagnosis snv CLPTM1 missense R447M NM_001294 30-PASUCB CLPTM1 MISSENSE,UTR SNP Somatic PFAM:PF05602:CLPTM1 12 0.450 SQHIGH 14 18 32 0 42 42 Cosmic_Gene G G T G G TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 1209 19 45494124 45494124 60 NBL diagnosis snv SIGLEC1 missense D53N NM_023068 30-PASUCB SIGLEC1 MISSENSE SNP Somatic PFAM:PF00047:ig PFAM:PF07686:V-set 2 0.158 SQHIGH 13 8 21 1 30 31 Cosmic_Gene C C T C C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 6614 20 3687246 3687246 54 NBL diagnosis snv PCNT nonsense E2053* NM_006031 30-PASUCB PCNT NONSENSE SNP Somatic -8 0.068 SQHIGH 7 32 39 0 43 43 Cosmic_Gene G G T G G TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 5116 21 47835989 47835989 24 NBL diagnosis snv LOC100129534 EXON E10_exon NM_024848 30-PASUML MORN1|LOC100129534 INTRON|UTR SNP Somatic -6 0.068 SQHIGH 10 32 42 1 58 59 Cosmic_Gene G G A G G TARGET-30-PASUML-01A-01D TARGET-30-PASUML-10A-01D 79906|100129534 1 2283585 2283585 32 NBL diagnosis snv DNAJC6 missense E487D NM_014787 30-PASUML DNAJC6 MISSENSE SNP Somatic -5 0.075 SQHIGH 4 10 14 0 16 16 Cosmic_Gene G G C G G TARGET-30-PASUML-01A-01D TARGET-30-PASUML-10A-01D 9829 1 65858277 65858277 14 NBL diagnosis snv CR2 missense P441T NM_001006658 30-PASUYG CR2 MISSENSE SNP Somatic -3 0.149 SQHIGH 9 58 67 0 44 44 Cosmic_Gene C C A C C TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 1380 1 207644180 207644180 21 NBL diagnosis snv CASR missense W675C NM_000388 30-PASUYG CASR MISSENSE SNP Somatic PFAM:PF00003:7tm_3 -3 0.149 SQHIGH 7 33 40 0 38 38 Cosmic_Gene G G C G G TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 846 3 122002826 122002826 22 NBL diagnosis snv VWA5B2 missense S413N NM_138345 30-PASUYG VWA5B2 MISSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 5 0.301 SQHIGH 15 36 51 0 33 33 G G A G G TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 90113 3 183954156 183954156 37 NBL diagnosis snv FAT2 missense E64V NM_001447 30-PASUYG FAT2 MISSENSE SNP Somatic -6 0.116 SQHIGH 9 42 51 2 52 54 Cosmic_Gene T T A T T TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 2196 5 150948302 150948302 17 NBL diagnosis snv TULP1 splice_region R371_E11splice_region NM_003322 30-PASUYG TULP1 DONOR SNP Somatic -1 0.178 SQHIGH 9 44 53 0 39 39 Cosmic_Gene C C A C C TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 7287 6 35473512 35473512 23 NBL diagnosis snv DBF4 silent S465S NM_006716 30-PASUYG DBF4 SYNONYMOUS SNP Somatic 2 0.232 SQHIGH 12 43 55 2 42 44 Cosmic_Gene C C T C C TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 10926 7 87536848 87536848 19 NBL diagnosis snv AK3 missense E119G NM_016282 30-PASUYG AK3 MISSENSE SNP Somatic PFAM:PF00406:ADK -10 0.082 SQHIGH 4 9 13 1 25 26 Cosmic_Gene T T C T T TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 50808 9 4719223 4719223 15 NBL diagnosis snv GNE silent A122A NM_001128227 30-PASUYG GNE SYNONYMOUS SNP Somatic PFAM:PF02350:Epimerase_2 -10 0.082 SQHIGH 4 13 17 0 32 32 G G T G G TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 10020 9 36246371 36246371 19 NBL diagnosis snv RORB-AS1 EXON E1_exon NM_006914 30-PASUYG RORB INTRON SNP Somatic -2 0.163 SQHIGH 5 29 34 0 39 39 Cosmic_Gene G G A G G TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 6096 9 77113220 77113220 17 NBL diagnosis snv RRM1 missense L692F NM_001033 30-PASUYG RRM1 MISSENSE SNP Somatic -9 0.089 SQHIGH 8 38 46 0 47 47 Cosmic_Gene C C T C C TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 6240 11 4156384 4156384 26 NBL diagnosis snv PACSIN3 silent A83A NM_016223 30-PASUYG PACSIN3|ARFGAP2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 1 0.212 SQHIGH 5 22 27 0 33 33 Cosmic_Gene G G C G G TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 29763|84364 11 47202204 47202204 18 NBL diagnosis snv STAB2 missense C1970R NM_017564 30-PASUYG STAB2 MISSENSE SNP Somatic -4 0.137 SQHIGH 9 33 42 0 48 48 Cosmic_Gene T T C T T TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 55576 12 104136209 104136209 32 NBL diagnosis snv RASGRP1 missense G457E NM_005739 30-PASUYG RASGRP1 INTRON,MISSENSE SNP Somatic -7 0.107 SQHIGH 4 23 27 0 46 46 Cosmic_Gene C C T C C TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 10125 15 38795531 38795531 18 NBL diagnosis snv PAFAH1B1 missense K163N NM_000430 30-PASUYG PAFAH1B1 MISSENSE SNP Somatic 2 0.232 SQHIGH 4 25 29 0 39 39 Cosmic_Gene G G T G G TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 5048 17 2573546 2573546 15 NBL diagnosis snv PSMF1 splice_region W184_E5splice_region NM_006814 30-PASUYG PSMF1 ACCEPTOR SNP Somatic 9 0.428 SQHIGH 7 25 32 0 26 26 G G C G G TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 9491 20 1143767 1143767 20 NBL diagnosis snv FKBP1A-SDCBP2 EXON E1_exon NM_000801 30-PASUYG FKBP1A|FKBP1A-SDCBP2 UTR5|UTR SNP Somatic -2 0.163 SQHIGH 5 6 11 0 14 14 C C G C C TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 2280|100528031 20 1373764 1373764 21 NBL diagnosis mnv WDR36 missense T251G NM_139281 30-PASUYG WDR36 MISSENSE Sub Somatic PFAM:PF00400:WD40 -9 0.313 SQHIGH 5 13 18 0 23 23 Cosmic_Gene AC AC GG AC AC TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 134430 5 110438084 110438085 19 NBL diagnosis mnv BTBD10 missense S106_S107>RT NM_032320 30-PASUYG BTBD10 MISSENSE Sub Somatic -8 0.333 SQHIGH 5 32 37 0 32 32 AACT AACT TGCG AACT AACT TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 84280 11 13441272 13441275 14 NBL diagnosis snv OLFML3 missense A340S NM_020190 30-PASVRU OLFML3 MISSENSE SNP Somatic PFAM:PF02191:OLF -9 0.060 SQHIGH 5 38 43 0 44 44 G G T G G TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 56944 1 114524188 114524188 16 NBL diagnosis snv ITGA10 missense A600S NM_003637 30-PASVRU ITGA10 MISSENSE SNP Somatic 2 0.153 SQHIGH 5 14 19 0 25 25 Cosmic_Gene G G T G G TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 8515 1 145534895 145534895 20 NBL diagnosis snv GABPB2 missense S179G NM_144618 30-PASVRU GABPB2 MISSENSE SNP Somatic -8 0.064 SQHIGH 6 28 34 0 32 32 A A G A A TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 126626 1 151070391 151070391 18 NBL diagnosis snv ALK missense F1174L NM_004304 30-PASVRU ALK MISSENSE SNP Somatic 5 0.203 SQHIGH 21 39 60 0 40 40 COSMIC:mut:28055 Cosmic_Gene G G T G G TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 238 2 29443695 29443695 54 NBL diagnosis snv COL5A2 missense G1369V NM_000393 30-PASVRU COL5A2 MISSENSE SNP Somatic PFAM:PF01410:COLFI -1 0.115 SQHIGH 4 12 16 0 31 31 Cosmic_Gene C C A C C TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 1290 2 189901349 189901349 20 NBL diagnosis snv ATG16L1 splice_region Y39_E1splice_region NM_030803 30-PASVRU ATG16L1 DONOR SNP Somatic -3 0.096 SQHIGH 7 17 24 1 35 36 A A G A A TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 55054 2 234160592 234160592 23 NBL diagnosis snv SDAD1 splice_region T99_E4splice_region NM_018115 30-PASVRU SDAD1 ACCEPTOR SNP Somatic 13 0.504 SQHIGH 23 23 46 0 29 29 Cosmic_Gene G G T G G TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 55153 4 76898913 76898913 62 NBL diagnosis snv PDE4D missense R8I NM_001197220 30-PASVRU PDE4D INTRON,MISSENSE SNP Somatic 17 0.827 SQHIGH 26 20 46 1 35 36 Cosmic_Gene C C A C C TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 5144 5 58571206 58571206 72 NBL diagnosis snv GALNT10 missense R214W NM_198321 30-PASVRU GALNT10 MISSENSE SNP Somatic 6 0.229 SQHIGH 18 36 54 0 50 50 Cosmic_Gene C C T C C TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 55568 5 153755908 153755908 58 NBL diagnosis snv SDK1 missense T567M NM_152744 30-PASVRU SDK1 MISSENSE SNP dbsnp.134:rs145189416 Somatic PFAM:PF00047:ig 14 0.580 SQHIGH 14 13 27 0 27 27 Cosmic_Gene C C T C C TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 221935 7 4009042 4009042 52 NBL diagnosis snv RELN missense H984N NM_005045 30-PASVRU RELN MISSENSE SNP Somatic 8 0.282 SQHIGH 9 14 23 0 32 32 Cosmic_Gene G G T G G TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 5649 7 103251200 103251200 39 NBL diagnosis snv SPAM1 missense D310Y NM_003117 30-PASVRU SPAM1 MISSENSE SNP Somatic PFAM:PF01630:Glyco_hydro_56 10 0.351 SQHIGH 10 19 29 0 32 32 Cosmic_Gene G G T G G TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 6677 7 123594552 123594552 37 NBL diagnosis snv HDHD3 missense R22S NM_031219 30-PASVRU HDHD3 MISSENSE SNP Somatic 10 0.351 SQHIGH 21 16 37 0 40 40 G G T G G TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 81932 9 116136571 116136571 85 NBL diagnosis snv PDE6C missense T573S NM_006204 30-PASVRU PDE6C MISSENSE SNP Somatic PFAM:PF00233:PDEase_I PFAM:PF07514:TraI_2 15 0.651 SQHIGH 14 18 32 0 40 40 Cosmic_Gene C C G C C TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 5146 10 95400295 95400295 58 NBL diagnosis snv CCKBR missense E305D NM_176875 30-PASVRU CCKBR MISSENSE SNP Somatic -4 0.088 SQHIGH 16 11 27 0 23 23 Cosmic_Gene G G T G G TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 887 11 6292344 6292344 56 NBL diagnosis snv KIAA1549L missense P1621S NM_012194 30-PASVRU KIAA1549L MISSENSE SNP Somatic -5 0.081 SQHIGH 8 52 60 0 61 61 Cosmic_Gene C C T C C TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 25758 11 33667574 33667574 25 NBL diagnosis snv TTC36 silent I78I NM_001080441 30-PASVRU TMEM25|TTC36 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 6 0.229 SQHIGH 9 12 21 0 22 22 C C A C C TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 84866|143941 11 118399433 118399433 33 NBL diagnosis snv RHCG silent T160T NM_016321 30-PASVRU RHCG SYNONYMOUS SNP Somatic PFAM:PF00909:Ammonium_transp 10 0.351 SQHIGH 22 28 50 0 60 60 Cosmic_Gene G G A G G TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 51458 15 90026340 90026340 89 NBL diagnosis snv TMEM159 missense E15G NM_020422 30-PASVRU DNAH3|TMEM159 TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.069 SQHIGH 3 14 17 0 36 36 Cosmic_Gene A A G A A TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 55567|57146 16 21172547 21172547 15 NBL diagnosis mnv KEAP1 missense S35I NM_203500 30-PASVRU KEAP1 MISSENSE Sub Somatic -3 0.445 SQHIGH 27 27 54 0 42 42 Cosmic_Gene GA GA AT GA GA TARGET-30-PASVRU-01A-01D TARGET-30-PASVRU-10A-01D 9817 19 10610606 10610607 84 NBL diagnosis snv CELSR2 missense W1627C NM_001408 30-PASWIJ CELSR2 MISSENSE SNP Somatic 16 0.712 SQHIGH 12 12 24 0 23 23 Cosmic_Gene G G T G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 1952 1 109806279 109806279 43 NBL diagnosis snv KCNN3 silent K550K NM_002249 30-PASWIJ KCNN3 SYNONYMOUS SNP Somatic -2 0.113 SQHIGH 12 31 43 0 29 29 Cosmic_Gene T T C T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 3782 1 154698443 154698443 30 NBL diagnosis snv THADA splice E1722_E35splice NM_022065 30-PASWIJ THADA DISRUPT SNP Somatic 2 0.167 SQHIGH 8 33 41 0 28 28 Cosmic_Gene C C T C C TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 63892 2 43514046 43514046 19 NBL diagnosis snv NPHP1 missense R669C NM_000272 30-PASWIJ NPHP1 MISSENSE SNP Somatic 12 0.456 SQHIGH 9 15 24 0 28 28 Cosmic_Gene G G A G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 4867 2 110881565 110881565 34 NBL diagnosis snv SAG missense Y372N NM_000541 30-PASWIJ SAG MISSENSE SNP Somatic 9 0.334 SQHIGH 22 31 53 0 51 51 Cosmic_Gene T T A T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 6295 2 234255454 234255454 76 NBL diagnosis snv STAB1 missense E2231K NM_015136 30-PASWIJ STAB1 MISSENSE SNP Somatic 2 0.167 SQHIGH 7 7 14 0 14 14 Cosmic_Gene G G A G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 23166 3 52556651 52556651 25 NBL diagnosis snv PRR23A missense R184S NM_001134659 30-PASWIJ PRR23A MISSENSE SNP Somatic PFAM:PF10630:DUF2476 16 0.712 SQHIGH 13 14 27 0 38 38 T T A T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 729627 3 138724559 138724559 59 NBL diagnosis snv UGT2A2 nonsense S333* NM_001105677 30-PASWIJ UGT2A1|UGT2A2 NONSENSE|NONSENSE SNP Somatic PFAM:PF00201:UDPGT 11 0.410 SQHIGH 9 22 31 0 37 37 Cosmic_Gene G G T G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 10941|574537 4 70461993 70461993 34 NBL diagnosis snv FAT1 missense E1776D NM_005245 30-PASWIJ FAT1 MISSENSE SNP Somatic -7 0.072 SQHIGH 5 40 45 0 36 36 Cosmic_Gene T T A T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 2195 4 187542412 187542412 13 NBL diagnosis snv SLC22A5 missense S362L NM_003060 30-PASWIJ SLC22A5 MISSENSE SNP Somatic 7 0.276 SQHIGH 10 38 48 1 46 47 C C T C C TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 6584 5 131726414 131726414 24 NBL diagnosis snv FLT4 silent S692S NM_182925 30-PASWIJ FLT4 SYNONYMOUS SNP Somatic 0 0.138 SQHIGH 8 24 32 0 19 19 Cosmic_Gene G G A G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 2324 5 180048197 180048197 18 NBL diagnosis snv EPB41L2 silent E618E NM_001431 30-PASWIJ EPB41L2 SYNONYMOUS,INTRON SNP Somatic 2 0.167 SQHIGH 10 19 29 0 27 27 Cosmic_Gene T T C T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 2037 6 131201326 131201326 32 NBL diagnosis snv CTGF missense Y182H NM_001901 30-PASWIJ CTGF MISSENSE SNP Somatic -4 0.094 SQHIGH 4 22 26 0 40 40 A A G A A TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 1490 6 132271298 132271298 17 NBL diagnosis snv TNRC18 missense P833A NM_001080495 30-PASWIJ TNRC18 MISSENSE SNP Somatic 4 0.202 SQHIGH 8 16 24 0 26 26 G G C G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 84629 7 5416589 5416589 29 NBL diagnosis snv FEZF1 missense S152T NM_001024613 30-PASWIJ FEZF1|LOC154860 INTRON,MISSENSE|UTR SNP Somatic 7 0.276 SQHIGH 7 26 33 0 43 43 Cosmic_Gene A A T A A TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 389549|154860 7 121944038 121944038 27 NBL diagnosis snv ZMAT4 missense H99Q NM_024645 30-PASWIJ ZMAT4 MISSENSE SNP Somatic PFAM:PF12874:zf-met -9 0.060 SQHIGH 5 27 32 0 28 28 Cosmic_Gene G G T G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 79698 8 40554816 40554816 14 NBL diagnosis snv PDP1 missense W330L NM_001161779 30-PASWIJ PDP1 MISSENSE SNP Somatic 7 0.276 SQHIGH 3 12 15 0 24 24 Cosmic_Gene G G T G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 54704 8 94935201 94935201 13 NBL diagnosis snv OR52E2 missense F265Y NM_001005164 30-PASWIJ OR52E2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 9 0.334 SQHIGH 12 32 44 1 29 30 Cosmic_Gene A A T A A TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 119678 11 5080064 5080064 22 NBL diagnosis snv OR52E8 missense A123T NM_001005168 30-PASWIJ OR52E8 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.250 SQHIGH 27 35 62 0 40 40 Cosmic_Gene C C T C C TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 390079 11 5878566 5878566 71 NBL diagnosis snv DNHD1 silent G4544G NM_144666 30-PASWIJ DNHD1 SYNONYMOUS SNP Somatic -5 0.085 SQHIGH 5 26 31 0 25 25 Cosmic_Gene T T G T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 144132 11 6592374 6592374 14 NBL diagnosis snv PKP2 missense D540H NM_001005242 30-PASWIJ PKP2 MISSENSE SNP Somatic -3 0.102 SQHIGH 6 31 37 0 41 41 Cosmic_Gene C C G C C TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 5318 12 32977035 32977035 20 NBL diagnosis snv TROAP missense G745V NM_005480 30-PASWIJ TROAP MISSENSE SNP Somatic 6 0.250 SQHIGH 17 44 61 1 49 50 Cosmic_Gene G G T G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 10024 12 49725132 49725132 39 NBL diagnosis snv FREM2 missense S1416N NM_207361 30-PASWIJ FREM2 MISSENSE SNP Somatic 8 0.303 SQHIGH 12 35 47 0 36 36 Cosmic_Gene G G A G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 341640 13 39265728 39265728 33 NBL diagnosis snv MAGEL2 missense P78T NM_019066 30-PASWIJ MAGEL2 MISSENSE SNP Somatic 12 0.456 SQHIGH 7 21 28 0 39 39 G G T G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 54551 15 23892658 23892658 29 NBL diagnosis snv ATP8B4 missense T514A NM_024837 30-PASWIJ ATP8B4 MISSENSE SNP Somatic 0 0.138 SQHIGH 7 29 36 0 48 48 Cosmic_Gene T T C T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 79895 15 50223418 50223418 27 NBL diagnosis snv KRT20 missense A73S NM_019010 30-PASWIJ KRT20 MISSENSE SNP Somatic PFAM:PF00038:Filament -3 0.102 SQHIGH 8 45 53 0 51 51 Cosmic_Gene C C A C C TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 54474 17 39041221 39041221 25 NBL diagnosis snv SLC35G4 silent G164G NM_001282300 30-PASWIJ SLC35G4 SYNONYMOUS SNP Somatic -4 0.094 SQHIGH 9 25 34 0 35 35 C C A C C TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 646000 18 11610086 11610086 30 NBL diagnosis snv TNFRSF11A missense A221V NM_003839 30-PASWIJ TNFRSF11A MISSENSE SNP Somatic 9 0.334 SQHIGH 10 24 34 1 32 33 Cosmic_Gene C C T C C TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 8792 18 60028958 60028958 24 NBL diagnosis snv EIF3G silent R225R NM_003755 30-PASWIJ EIF3G SYNONYMOUS SNP Somatic 10 0.371 SQHIGH 7 10 17 0 24 24 G G C G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 8666 19 10226671 10226671 31 NBL diagnosis snv GTPBP3 silent S4S NM_001195422 30-PASWIJ GTPBP3|ANO8 SYNONYMOUS,TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic -2 0.113 SQHIGH 4 24 28 0 39 39 Cosmic_Gene T T A T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 84705|57719 19 17445824 17445824 16 NBL diagnosis snv NCOA6 silent Q265Q NM_014071 30-PASWIJ NCOA6 SYNONYMOUS SNP Somatic -21 0.016 3 6 9 0 16 16 Cosmic_Gene T T C T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 23054 20 33345756 33345756 14 NBL diagnosis snv MYH7B splice_region N209_E9splice_region NM_020884 30-PASWIJ MYH7B ACCEPTOR SNP Somatic 11 0.410 SQHIGH 24 31 55 0 58 58 Cosmic_Gene T T G T T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 57644 20 33568831 33568831 89 NBL diagnosis snv MX2 missense R655Q NM_002463 30-PASWIJ MX2 MISSENSE SNP Somatic PFAM:PF02212:GED 6 0.250 SQHIGH 23 38 61 0 47 47 Cosmic_Gene G G A G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 4600 21 42779976 42779976 67 NBL diagnosis snv HSPG2 missense E1680K NM_005529 30-PASWVY HSPG2 MISSENSE SNP Somatic 0 0.154 SQHIGH 14 28 42 1 29 30 Cosmic_Gene C C T C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 3339 1 22186472 22186472 28 NBL diagnosis snv EPB41 splice_region R375_E7splice_region NM_001166005 30-PASWVY EPB41 INTRON SNP Somatic 12 0.486 SQHIGH 21 24 45 1 50 51 Cosmic_Gene G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 2035 1 29344963 29344963 71 NBL diagnosis snv SELE missense D293E NM_000450 30-PASWVY SELE MISSENSE SNP Somatic 20 0.993 SQHIGH 18 19 37 1 37 38 Cosmic_Gene G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 6401 1 169698651 169698651 56 NBL diagnosis snv C1orf186 silent P55P NM_001007544 30-PASWVY C1orf186 SYNONYMOUS SNP Somatic -6 0.093 SQHIGH 4 18 22 0 25 25 G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 440712 1 206241624 206241624 14 NBL diagnosis snv ZEB2 silent G963G NM_014795 30-PASWVY ZEB2 SYNONYMOUS SNP Somatic 6 0.279 SQHIGH 7 22 29 0 48 48 Cosmic_Gene T T G T T TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 9839 2 145154157 145154157 32 NBL diagnosis snv SLC4A3 splice_region L1208_E23splice_region NM_005070 30-PASWVY SLC4A3 ACCEPTOR SNP Somatic 7 0.307 SQHIGH 23 37 60 0 64 64 Cosmic_Gene C C G C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 6508 2 220506364 220506364 84 NBL diagnosis snv SLC19A3 missense W265L NM_025243 30-PASWVY SLC19A3 MISSENSE SNP Somatic PFAM:PF01770:Folate_carrier -6 0.093 SQHIGH 5 27 32 0 40 40 Cosmic_Gene C C A C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 80704 2 228563637 228563637 18 NBL diagnosis snv CNTN4 missense G151V NM_175607 30-PASWVY CNTN4 MISSENSE SNP Somatic PFAM:PF00047:ig -2 0.128 SQHIGH 6 22 28 0 36 36 Cosmic_Gene G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 152330 3 2861263 2861263 23 NBL diagnosis snv MRPS25 silent S94S NM_022497 30-PASWVY MRPS25 SYNONYMOUS SNP Somatic PFAM:PF05047:L51_S25_CI-B8 16 0.742 SQHIGH 28 24 52 0 42 42 G G A G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 64432 3 15094934 15094934 92 NBL diagnosis snv LAMB2 missense A1446V NM_002292 30-PASWVY USP19|LAMB2 TSS-UPSTREAM|MISSENSE SNP Somatic 6 0.279 SQHIGH 18 19 37 0 33 33 Cosmic_Gene G G A G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 10869|3913 3 49160373 49160373 61 NBL diagnosis snv FLNB missense Y2283S NM_001164317 30-PASWVY FLNB MISSENSE SNP Somatic PFAM:PF00630:Filamin 3 0.204 SQHIGH 7 29 36 1 67 68 Cosmic_Gene A A C A A TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 2317 3 58140638 58140638 26 NBL diagnosis snv DZIP3 silent N781N NM_014648 30-PASWVY DZIP3 SYNONYMOUS SNP Somatic 8 0.335 SQHIGH 14 17 31 0 37 37 Cosmic_Gene C C T C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 9666 3 108381024 108381024 57 NBL diagnosis snv SPICE1 missense D698Y NM_144718 30-PASWVY SPICE1 MISSENSE SNP Somatic 16 0.742 SQHIGH 12 13 25 0 36 36 Cosmic_Gene C C A C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 152185 3 113172363 113172363 55 NBL diagnosis snv PARP14 silent V1243V NM_017554 30-PASWVY PARP14 SYNONYMOUS SNP Somatic 10 0.400 SQHIGH 10 35 45 0 41 41 Cosmic_Gene G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 54625 3 122432380 122432380 30 NBL diagnosis snv ANK2 silent A2211A NM_001148 30-PASWVY ANK2 SYNONYMOUS,INTRON SNP Somatic 2 0.186 SQHIGH 10 28 38 0 36 36 Cosmic_Gene C C A C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 287 4 114276407 114276407 32 NBL diagnosis snv CREBRF missense S637T NM_153607 30-PASWVY CREBRF MISSENSE SNP Somatic -9 0.073 SQHIGH 4 30 34 0 38 38 T T A T T TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 153222 5 172560737 172560737 13 NBL diagnosis snv LRFN2 silent N760N NM_020737 30-PASWVY LRFN2 SYNONYMOUS SNP Somatic 12 0.486 SQHIGH 21 19 40 0 31 31 Cosmic_Gene G G A G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 57497 6 40359772 40359772 66 NBL diagnosis snv GLTSCR1L missense V869L NM_015349 30-PASWVY GLTSCR1L MISSENSE SNP Somatic 6 0.279 SQHIGH 20 41 61 0 34 34 Cosmic_Gene G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 23506 6 42832549 42832549 44 NBL diagnosis snv CEP162 silent L1111L NM_014895 30-PASWVY CEP162 SYNONYMOUS SNP Somatic -2 0.128 SQHIGH 6 30 36 0 27 27 Cosmic_Gene A A T A A TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 22832 6 84862560 84862560 15 NBL diagnosis snv TBX18 missense V270L NM_001080508 30-PASWVY TBX18 MISSENSE SNP Somatic 3 0.204 SQHIGH 12 9 21 0 16 16 Cosmic_Gene C C A C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 9096 6 85457769 85457769 38 NBL diagnosis snv CCDC183 missense M378I NM_001039374 30-PASWVY KIAA1984|LOC100131193|C9orf86 MISSENSE|UTR|TSS-UPSTREAM SNP Somatic 7 0.307 SQHIGH 19 35 54 0 60 60 Cosmic_Gene G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 84960|100131193|55684 9 139700980 139700980 70 NBL diagnosis snv CACNA1B missense L1268V NM_000718 30-PASWVY CACNA1B MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 13 0.537 SQHIGH 10 5 15 0 30 30 Cosmic_Gene C C G C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 774 9 140946635 140946635 60 NBL diagnosis snv PRR26 EXON E1_exon NM_014974 30-PASWVY DIP2C|C10orf108 INTRON|INTRON,UTR SNP Somatic 12 0.486 SQHIGH 17 24 41 0 49 49 Cosmic_Gene C C T C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 22982|414235 10 698346 698346 68 NBL diagnosis snv FAM208B missense G1549E NM_017782 30-PASWVY FAM208B MISSENSE SNP Somatic 11 0.439 SQHIGH 23 21 44 1 44 45 G G A G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 54906 10 5790030 5790030 75 NBL diagnosis snv DHTKD1 missense Q673H NM_018706 30-PASWVY DHTKD1 MISSENSE SNP Somatic PFAM:PF01855:POR_N 11 0.439 SQHIGH 9 29 38 0 53 53 Cosmic_Gene G G C G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 55526 10 12148367 12148367 37 NBL diagnosis snv OR5T1 missense I323T NM_001004745 30-PASWVY OR5T1 MISSENSE SNP Somatic 6 0.279 SQHIGH 7 17 24 0 36 36 Cosmic_Gene T T C T T TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 390155 11 56044082 56044082 30 NBL diagnosis snv ATF7IP missense A196G NM_018179 30-PASWVY ATF7IP MISSENSE SNP Somatic -7 0.085 SQHIGH 5 36 41 0 30 30 Cosmic_Gene C C G C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 55729 12 14577436 14577436 12 NBL diagnosis snv GNPTAB silent A662A NM_024312 30-PASWVY GNPTAB SYNONYMOUS SNP dbsnp.132:rs112000802 Somatic -15 0.045 10 66 76 0 52 52 Cosmic_Gene C C T C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 79158 12 102158709 102158709 24 NBL diagnosis snv ATP2A2 missense A718T NM_001681 30-PASWVY ATP2A2 MISSENSE SNP Somatic 15 0.675 SQHIGH 34 22 56 0 37 37 Cosmic_Gene G G A G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 488 12 110780087 110780087 101 NBL diagnosis snv LMO7 silent T278T NM_005358 30-PASWVY LMO7 SYNONYMOUS,UTR5 SNP Somatic -4 0.108 SQHIGH 5 22 27 0 46 46 Cosmic_Gene A A T A A TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 4008 13 76378441 76378441 23 NBL diagnosis snv PAX9 silent L228L NM_006194 30-PASWVY PAX9 SYNONYMOUS SNP Somatic -4 0.108 SQHIGH 7 28 35 1 37 38 Cosmic_Gene G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 5083 14 37135719 37135719 17 NBL diagnosis snv FOXA1 silent S472S NM_004496 30-PASWVY FOXA1 SYNONYMOUS SNP Somatic 15 0.675 SQHIGH 23 17 40 0 33 33 G G C G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 3169 14 38060573 38060573 78 NBL diagnosis snv SERPINA11 silent L377L NM_001080451 30-PASWVY SERPINA11 SYNONYMOUS SNP Somatic 14 0.609 SQHIGH 31 24 55 0 61 61 Cosmic_Gene G G A G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 256394 14 94909081 94909081 128 NBL diagnosis snv VPS9D1 missense L373F NM_004913 30-PASWVY LOC100128881|C16orf7 TSS-UPSTREAM|MISSENSE SNP Somatic 11 0.439 SQHIGH 7 15 22 0 27 27 C C A C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 100128881|9605 16 89777133 89777133 27 NBL diagnosis snv PITPNM3 splice_region G76_E3splice_region NM_031220 30-PASWVY PITPNM3 INTRON SNP dbsnp.134:rs145880642 Somatic 1 0.168 SQHIGH 13 49 62 1 39 40 Cosmic_Gene G G C G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 83394 17 6428667 6428667 22 NBL diagnosis snv SMARCE1 splice_region K123_E6splice_region NM_003079 30-PASWVY SMARCE1 INTRON SNP Somatic 2 0.186 SQHIGH 13 55 68 0 55 55 C C T C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 6605 17 38792638 38792638 36 NBL diagnosis snv NFATC1 missense C868F NM_001278669 30-PASWVY NFATC1 INTRON,MISSENSE SNP Somatic 9 0.365 SQHIGH 10 12 22 1 27 28 Cosmic_Gene G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 4772 18 77246758 77246758 33 NBL diagnosis snv RYR1 silent L3799L NM_000540 30-PASWVY RYR1 SYNONYMOUS SNP Somatic 4 0.225 SQHIGH 7 21 28 0 45 45 Cosmic_Gene G G T G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 6261 19 39025818 39025818 31 NBL diagnosis snv C19orf68 silent A783A NM_199341 30-PASWVY C19orf68 INTRON SNP Somatic 9 0.365 SQHIGH 12 19 31 0 64 64 G G A G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 374920 19 48699670 48699670 66 NBL diagnosis snv PTPRH missense N256S NM_002842 30-PASWVY PTPRH INTRON,MISSENSE SNP Somatic 2 0.186 SQHIGH 7 26 33 0 35 35 Cosmic_Gene T T C T T TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 5794 19 55715269 55715269 24 NBL diagnosis snv ATRN silent T937T NM_139321 30-PASWVY ATRN SYNONYMOUS SNP Somatic -10 0.068 SQHIGH 5 28 33 0 41 41 Cosmic_Gene A A T A A TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 8455 20 3564591 3564591 18 NBL diagnosis snv EVA1C missense S306R NM_058187 30-PASWVY EVA1C MISSENSE SNP Somatic 1 0.168 SQHIGH 10 35 45 0 35 35 Cosmic_Gene C C A C C TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 59271 21 33876294 33876294 27 NBL diagnosis snv TAF1B splice_region V134_E6splice_region NM_005680 30-PASWYR TAF1B ACCEPTOR SNP Somatic 6 0.217 SQHIGH 11 36 47 0 36 36 Cosmic_Gene C C A C C TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 9014 2 10008398 10008398 30 NBL diagnosis snv PRSS56 missense R453W NM_001195129 30-PASWYR PRSS56|CHRND MISSENSE|TSS-UPSTREAM SNP Somatic 11 0.372 SQHIGH 19 12 31 0 34 34 Cosmic_Gene C C T C C TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 646960|1144 2 233389022 233389022 79 NBL diagnosis snv FANCD2 missense Q320K NM_033084 30-PASWYR FANCD2 MISSENSE SNP Somatic 14 0.554 SQHIGH 13 23 36 0 31 31 Cosmic_Gene C C A C C TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 2177 3 10084803 10084803 40 NBL diagnosis snv LARS2-AS1 EXON E13_exon NM_015340 30-PASWYR LARS2 INTRON SNP Somatic -9 0.054 SQHIGH 5 33 38 0 48 48 Cosmic_Gene C C G C C TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 23395 3 45536794 45536794 18 NBL diagnosis snv ZNF141 missense R303Q NM_003441 30-PASWYR ZNF141 MISSENSE SNP Somatic -4 0.081 SQHIGH 6 37 43 0 52 52 G G A G G TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 7700 4 367134 367134 22 NBL diagnosis snv ADAMTS16 silent A1160A NM_139056 30-PASWYR ADAMTS16 SYNONYMOUS SNP Somatic -6 0.069 SQHIGH 5 24 29 0 28 28 Cosmic_Gene C C T C C TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 170690 5 5318315 5318315 15 NBL diagnosis snv NOD1 missense R333C NM_006092 30-PASWYR NOD1 MISSENSE SNP Somatic PFAM:PF00485:PRK 7 0.240 SQHIGH 10 19 29 0 47 47 Cosmic_Gene G G A G G TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 10392 7 30492036 30492036 47 NBL diagnosis snv DOCK5 silent P1694P NM_024940 30-PASWYR DOCK5 SYNONYMOUS SNP Somatic -2 0.097 SQHIGH 7 37 44 0 47 47 Cosmic_Gene G G T G G TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 80005 8 25261229 25261229 23 NBL diagnosis snv CDH23 missense A1871S NM_022124 30-PASWYR CDH23 MISSENSE SNP Somatic 6 0.217 SQHIGH 7 22 29 0 24 24 Cosmic_Gene G G T G G TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 64072 10 73544756 73544756 20 NBL diagnosis snv NR1H3 missense R253P NM_005693 30-PASWYR NR1H3 INTRON,MISSENSE SNP Somatic -37 0.001 5 11 16 0 21 21 Cosmic_Gene G G C G G TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 10062 11 47283147 47283147 20 NBL diagnosis snv MS4A3 missense S128R NM_006138 30-PASWYR MS4A3 MISSENSE SNP Somatic PFAM:PF04103:CD20 -7 0.063 SQHIGH 6 26 32 1 34 35 Cosmic_Gene T T G T T TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 932 11 59834456 59834456 14 NBL diagnosis snv CLEC4C missense S89P NM_130441 30-PASWYR CLEC4C MISSENSE SNP Somatic 8 0.267 SQHIGH 7 12 19 0 33 33 Cosmic_Gene A A G A A TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 170482 12 7890141 7890141 34 NBL diagnosis snv KLRG1 splice_region G63_E2splice_region NM_005810 30-PASWYR KLRG1 INTRON SNP Somatic -6 0.069 SQHIGH 7 41 48 1 50 51 Cosmic_Gene C C G C C TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 10219 12 9144914 9144914 16 NBL diagnosis snv GRTP1 nonsense E188* NM_001286733 30-PASWYR GRTP1 MISSENSE SNP Somatic PFAM:PF00566:TBC -10 0.050 SQHIGH 6 33 39 0 43 43 C C A C C TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 79774 13 113999178 113999178 20 NBL diagnosis snv CSPG4 missense S2141T NM_001897 30-PASWYR CSPG4 MISSENSE SNP Somatic 5 0.192 SQHIGH 13 14 27 0 32 32 Cosmic_Gene C C G C C TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 1464 15 75968438 75968438 53 NBL diagnosis snv ZNF700 missense G437S NM_144566 30-PASWYR ZNF700 MISSENSE SNP Somatic 0 0.119 SQHIGH 9 37 46 0 40 40 G G A G G TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 90592 19 12060148 12060148 26 NBL diagnosis snv NLRP11 missense S869R NM_145007 30-PASWYR NLRP11 MISSENSE SNP Somatic 3 0.159 SQHIGH 12 47 59 0 48 48 Cosmic_Gene G G T G G TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 204801 19 56300672 56300672 33 NBL diagnosis snv MORC2 missense T494M NM_014941 30-PASWYR MORC2 MISSENSE SNP Somatic -4 0.081 SQHIGH 7 28 35 0 40 40 Cosmic_Gene G G A G G TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 22880 22 31332568 31332568 25 NBL diagnosis snv PER3 silent E336E NM_016831 30-PASXHE PER3 SYNONYMOUS SNP Somatic PFAM:PF08447:PAS_3 4 0.209 SQHIGH 23 49 72 0 48 48 Cosmic_Gene A A G A A TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 8863 1 7863783 7863783 58 NBL diagnosis snv SLC26A9 missense N273K NM_052934 30-PASXHE SLC26A9 MISSENSE SNP Somatic PFAM:PF00916:Sulfate_transp 9 0.361 SQHIGH 23 27 50 0 56 56 Cosmic_Gene A A C A A TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 115019 1 205898383 205898383 90 NBL diagnosis snv RRP15 missense M26T NM_016052 30-PASXHE RRP15 MISSENSE SNP Somatic 19 0.963 SQHIGH 17 19 36 0 40 40 T T C T T TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 51018 1 218458735 218458735 66 NBL diagnosis snv RAB3GAP2 missense L1104F NM_012414 30-PASXHE RAB3GAP2 MISSENSE SNP Somatic 12 0.488 SQHIGH 11 21 32 0 25 25 Cosmic_Gene C C A C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 25782 1 220331168 220331168 32 NBL diagnosis snv PROC missense P210L NM_000312 30-PASXHE MIR4783|PROC TSS-UPSTREAM|MISSENSE SNP dbsnp.133:rs121918145 Somatic 14 0.616 SQHIGH 19 21 40 0 39 39 C C T C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 100616187|5624 2 128183754 128183754 68 NBL diagnosis snv MYO7B splice Q2016_E45splice NM_001080527 30-PASXHE MYO7B ACCEPTOR SNP Somatic 8 0.328 SQHIGH 18 25 43 0 51 51 Cosmic_Gene C C A C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 4648 2 128394117 128394117 72 NBL diagnosis snv MYO3B missense V1050D NM_001083615 30-PASXHE MYO3B MISSENSE SNP Somatic 18 0.900 SQHIGH 13 16 29 0 32 32 Cosmic_Gene T T A T T TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 140469 2 171356178 171356178 50 NBL diagnosis snv PF4V1 missense K65R NM_002620 30-PASXHE PF4V1 MISSENSE SNP Somatic -7 0.074 SQHIGH 6 16 22 0 18 18 A A G A A TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 5197 4 74719593 74719593 17 NBL diagnosis snv CCDC158 missense R424W NM_001042784 30-PASXHE CCDC158 MISSENSE SNP Somatic 9 0.361 SQHIGH 6 8 14 1 23 24 Cosmic_Gene G G A G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 339965 4 77290656 77290656 22 NBL diagnosis snv NDST3 silent Q93Q NM_004784 30-PASXHE NDST3 SYNONYMOUS SNP Somatic PFAM:PF12062:HSNSD 5 0.235 SQHIGH 17 31 48 0 33 33 Cosmic_Gene A A G A A TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 9348 4 118975344 118975344 45 NBL diagnosis snv FNIP2 missense H445Y NM_020840 30-PASXHE FNIP2 MISSENSE SNP Somatic 6 0.272 SQHIGH 19 35 54 0 41 41 C C T C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 57600 4 159782796 159782796 54 NBL diagnosis snv PDZD2 missense E2085K NM_178140 30-PASXHE PDZD2 MISSENSE SNP dbsnp.134:rs140544837 Somatic 11 0.440 SQHIGH 25 33 58 0 49 49 Cosmic_Gene G G A G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 23037 5 32089807 32089807 80 NBL diagnosis snv ADAMTS6 splice P310_E7splice NM_197941 30-PASXHE ADAMTS6 DISRUPT SNP Somatic 13 0.547 SQHIGH 19 0 19 0 26 26 C A A C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 11174 5 64747448 64747448 124 NBL diagnosis snv PCDHGC4 missense L865I NM_032406 30-PASXHE PCDHGB5|PCDHGC3|PCDHGB4|PCDHGA6|PCDHGB7|PCDHGB2|PCDHGA10|PCDHGA8|PCDHGA3|PCDHGC5|PCDHGB3|PCDHGA4|PCDHGA11|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGA2|PCDHGC4|PCDHGA5|PCDHGA1|PCDHGA12|PCDHGB6 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON,MISSENSE|INTRON|INTRON|INTRON|INTRON SNP Somatic 17 0.851 SQHIGH 20 18 38 0 47 47 Cosmic_Gene C C A C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 56101|5098|8641|56109|56099|56103|56106|9708|56112|56097|56102|56111|56105|56107|56104|56108|56113|56098|56110|56114|26025|56100 5 140867333 140867333 86 NBL diagnosis snv RBM22 missense A345T NM_018047 30-PASXHE RBM22 MISSENSE SNP Somatic -2 0.115 SQHIGH 8 8 16 0 24 24 C C T C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 55696 5 150072556 150072556 38 NBL diagnosis snv PRDM13 missense T476N NM_021620 30-PASXHE PRDM13 MISSENSE SNP Somatic -4 0.095 SQHIGH 13 12 25 0 14 14 C C A C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 59336 6 100061938 100061938 32 NBL diagnosis snv REV3L missense P45T NM_002912 30-PASXHE REV3L|TRAF3IP2-AS1 MISSENSE|TSS-UPSTREAM SNP Somatic 12 0.488 SQHIGH 10 13 23 0 25 25 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 5980|643749 6 111803959 111803959 38 NBL diagnosis snv MKX splice_region V117_E4splice_region NM_173576 30-PASXHE MKX ACCEPTOR SNP Somatic 9 0.361 SQHIGH 10 13 23 0 27 27 Cosmic_Gene C C A C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 283078 10 28024310 28024310 40 NBL diagnosis snv UNC5B silent V739V NM_170744 30-PASXHE UNC5B SYNONYMOUS SNP Somatic 13 0.547 SQHIGH 20 23 43 0 39 39 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 219699 10 73055609 73055609 68 NBL diagnosis snv PYROXD2 missense I406L NM_032709 30-PASXHE PYROXD2 MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD 11 0.440 SQHIGH 28 32 60 0 49 49 Cosmic_Gene T T G T T TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 84795 10 100150431 100150431 89 NBL diagnosis snv OR51V1 missense H253N NM_001004760 30-PASXHE OR51V1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 17 0.851 SQHIGH 15 18 33 0 37 37 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 283111 11 5221174 5221174 58 NBL diagnosis snv LOC101929517 EXON E3_exon NM_001143820 30-PASXHE ETS1 INTRON,TSS-UPSTREAM SNP Somatic 8 0.328 SQHIGH 17 4 21 0 46 47 Cosmic_Gene T T C T T TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 2113 11 128396805 128396805 118 NBL diagnosis snv CD163L1 nonsense C16* NM_174941 30-PASXHE CD163L1 NONSENSE SNP Somatic -1 0.126 SQHIGH 10 19 29 0 16 16 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 283316 12 7593826 7593826 22 NBL diagnosis snv MRPS35 missense C130F NM_021821 30-PASXHE MRPS35 MISSENSE SNP Somatic -3 0.104 SQHIGH 7 28 35 0 24 24 G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 60488 12 27876986 27876986 17 NBL diagnosis snv ERBB3 missense F340S NM_001982 30-PASXHE ERBB3 MISSENSE SNP Somatic 5 0.235 SQHIGH 21 34 55 0 47 47 Cosmic_Gene T T C T T TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 2065 12 56482562 56482562 66 NBL diagnosis snv ZC3H10 missense V397L NM_032786 30-PASXHE ZC3H10|LOC100653008 MISSENSE|TSS-UPSTREAM SNP Somatic 3 0.188 SQHIGH 15 38 53 0 26 26 G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 84872|100653008 12 56515535 56515535 29 NBL diagnosis snv CYP27B1 missense P438H NM_000785 30-PASXHE CYP27B1 MISSENSE SNP Somatic PFAM:PF00067:p450 6 0.272 SQHIGH 23 58 81 0 45 45 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 1594 12 58157494 58157494 50 NBL diagnosis snv HNF1A silent S337S NM_000545 30-PASXHE HNF1A SYNONYMOUS SNP Somatic PFAM:PF04812:HNF-1B_C 6 0.272 SQHIGH 13 23 36 1 29 30 Cosmic_Gene C C T C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 6927 12 121434120 121434120 30 NBL diagnosis snv PCDH9 missense H51N NM_203487 30-PASXHE LOC730236|PCDH9 TSS-UPSTREAM|MISSENSE SNP Somatic 13 0.547 SQHIGH 16 22 38 0 51 51 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 730236|5101 13 67802422 67802422 69 NBL diagnosis snv IQGAP1 missense R755H NM_003870 30-PASXHE IQGAP1 MISSENSE SNP Somatic 20 1.000 SQHIGH 20 15 35 1 40 41 Cosmic_Gene G G A G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 8826 15 91016157 91016157 73 NBL diagnosis snv ITGAM splice A10_E2splice NM_001145808 30-PASXHE ITGAM DISRUPT SNP Somatic 18 0.900 SQHIGH 21 11 32 0 37 37 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 3684 16 31273012 31273012 93 NBL diagnosis snv PMFBP1 nonsense Q847* NM_031293 30-PASXHE PMFBP1 NONSENSE SNP Somatic 12 0.488 SQHIGH 47 37 84 0 41 41 Cosmic_Gene G G A G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 83449 16 72158716 72158716 108 NBL diagnosis snv MYH8 silent I935I NM_002472 30-PASXHE MYH8 SYNONYMOUS SNP Somatic 14 0.616 SQHIGH 13 20 33 0 36 36 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 4626 17 10304986 10304986 48 NBL diagnosis snv EVI2B nonsense S150* NM_006495 30-PASXHE EVI2B|NF1 NONSENSE|INTRON SNP Somatic 6 0.272 SQHIGH 17 34 51 0 52 52 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 2124|4763 17 29632179 29632179 59 NBL diagnosis snv PLXDC1 missense Y235C NM_020405 30-PASXHE PLXDC1 MISSENSE SNP Somatic PFAM:PF06119:NIDO 1 0.153 SQHIGH 11 50 61 0 46 46 Cosmic_Gene T T C T T TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 57125 17 37263667 37263667 29 NBL diagnosis snv OR4D1 missense G204V NM_012374 30-PASXHE OR4D1|MSX2P1 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00001:7tm_1 1 0.153 SQHIGH 28 92 120 0 51 51 Cosmic_Gene G G T G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 26689|55545 17 56233125 56233125 48 NBL diagnosis snv DNAH17 missense A2362V NM_173628 30-PASXHE DNAH17 MISSENSE SNP Somatic 6 0.272 SQHIGH 19 44 63 0 35 35 Cosmic_Gene G G A G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 8632 17 76482322 76482322 42 NBL diagnosis snv PGLYRP2 silent L243L NM_052890 30-PASXHE PGLYRP2 SYNONYMOUS SNP Somatic 3 0.188 SQHIGH 12 20 32 0 24 24 Cosmic_Gene C C A C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 114770 19 15586752 15586752 34 NBL diagnosis snv PPP1R16B silent I553I NM_015568 30-PASXHE PPP1R16B SYNONYMOUS SNP Somatic 20 1.000 SQHIGH 16 23 39 0 41 41 Cosmic_Gene A A T A A TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 26051 20 37547264 37547264 59 NBL diagnosis snv MAGEB1 missense S319Y NM_002363 30-PASXHE MAGEB1 MISSENSE SNP Somatic 13 0.547 SQHIGH 16 2 18 0 30 30 C A C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 4112 X 30269566 30269566 102 NBL diagnosis snv FAM19A3 missense T132K NM_182759 30-PASXIE FAM19A3 MISSENSE SNP Somatic 16 0.646 SQHIGH 20 25 45 0 51 51 C C A C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 284467 1 113269255 113269255 78 NBL diagnosis snv CENPF missense A2246S NM_016343 30-PASXIE CENPF MISSENSE SNP Somatic PFAM:PF10473:Cenp-F_leu_zip 12 0.351 SQHIGH 31 30 61 2 51 53 Cosmic_Gene G G T G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 1063 1 214819649 214819649 82 NBL diagnosis snv LRP1B missense R3248T NM_018557 30-PASXIE LRP1B MISSENSE SNP Somatic 20 0.998 SQHIGH 21 16 37 1 45 46 Cosmic_Gene C C G C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 53353 2 141215103 141215103 81 NBL diagnosis snv ABCB11 missense Q989K NM_003742 30-PASXIE ABCB11 MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane 6 0.171 SQHIGH 20 45 65 0 68 68 Cosmic_Gene G G T G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 8647 2 169791785 169791785 70 NBL diagnosis snv DGKG missense V246F NM_001346 30-PASXIE DGKG MISSENSE SNP Somatic 8 0.215 SQHIGH 21 26 47 0 47 47 Cosmic_Gene C C A C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 1608 3 185997696 185997696 76 NBL diagnosis snv FAM71B nonsense E388* NM_130899 30-PASXIE FAM71B NONSENSE SNP Somatic 13 0.405 SQHIGH 14 22 36 0 35 35 Cosmic_Gene C C A C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 153745 5 156590114 156590114 48 NBL diagnosis snv IRF4 splice A73S NM_002460 30-PASXIE IRF4 MISSENSE,UTR SNP Somatic 13 0.405 SQHIGH 22 23 45 1 50 51 Cosmic_Gene G G T G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 3662 6 394821 394821 76 NBL diagnosis snv SYCP2L missense R60C NM_001040274 30-PASXIE SYCP2L MISSENSE SNP Somatic 9 0.239 SQHIGH 13 20 33 0 28 28 Cosmic_Gene C C T C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 221711 6 10894199 10894199 41 NBL diagnosis snv NPSR1-AS1 EXON E2_exon NM_207172 30-PASXIE AAA1|NPSR1 INTRON,UTR|INTRON SNP Somatic 8 0.215 SQHIGH 10 10 20 1 35 36 Cosmic_Gene C C A C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 404744|387129 7 34758651 34758651 43 NBL diagnosis snv INPP5F missense V843A NM_014937 30-PASXIE INPP5F MISSENSE,UTR SNP Somatic -4 0.062 SQHIGH 9 47 56 1 46 47 Cosmic_Gene T T C T T TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 22876 10 121586421 121586421 18 NBL diagnosis snv OTOG silent G973G NM_001277269 30-PASXIE OTOG SYNONYMOUS SNP Somatic 14 0.477 SQHIGH 22 22 44 0 50 50 Cosmic_Gene C C A C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 340990 11 17613012 17613012 89 NBL diagnosis snv NAV2 silent L2187L NM_182964 30-PASXIE NAV2 SYNONYMOUS SNP Somatic 15 0.561 SQHIGH 29 29 58 0 71 71 Cosmic_Gene C C A C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 89797 11 20124935 20124935 123 NBL diagnosis snv LRP4-AS1 EXON E29_exon NM_002334 30-PASXIE LOC100507401|LRP4 UTR|INTRON SNP Somatic 16 0.646 SQHIGH 33 15 48 0 34 34 Cosmic_Gene G G T G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 100507401|4038 11 46894909 46894909 109 NBL diagnosis snv ZFP91 missense D228N NM_053023 30-PASXIE ZFP91-CNTF|ZFP91 UTR|MISSENSE SNP Somatic 13 0.405 SQHIGH 16 20 36 0 47 47 Cosmic_Gene G G A G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 386607|80829 11 58378487 58378487 68 NBL diagnosis snv ARAP1 nonsense W275* NM_015242 30-PASXIE ARAP1 NONSENSE SNP Somatic PFAM:PF00638:Ran_BP1 -7 0.049 SQHIGH 3 22 25 0 45 45 Cosmic_Gene C C T C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 116985 11 72418384 72418384 14 NBL diagnosis snv TUBA1B missense E446V NM_006082 30-PASXIE TUBA1B|LOC100288366 MISSENSE|UTR SNP Somatic 8 0.215 SQHIGH 27 28 55 0 47 47 T T A T T TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 10376|100288366 12 49521760 49521760 90 NBL diagnosis snv ITGA5 silent G150G NM_002205 30-PASXIE ITGA5 SYNONYMOUS SNP Somatic 12 0.351 SQHIGH 13 30 43 1 59 60 Cosmic_Gene G G T G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 3678 12 54803281 54803281 45 NBL diagnosis snv MON2 nonsense E303* NM_015026 30-PASXIE MON2 NONSENSE SNP Somatic PFAM:PF12783:Sec7_N 4 0.135 SQHIGH 11 34 45 0 27 27 Cosmic_Gene G G T G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 23041 12 62902183 62902183 25 NBL diagnosis snv PPP2R5E missense S18F NM_006246 30-PASXIE PPP2R5E MISSENSE SNP Somatic -30 0.004 5 36 41 0 42 42 Cosmic_Gene G G A G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 5529 14 64006351 64006351 16 NBL diagnosis snv ITGA11 splice S931_E23splice NM_001004439 30-PASXIE ITGA11 DISRUPT SNP Somatic 13 0.405 SQHIGH 19 26 45 0 48 48 Cosmic_Gene T T A T T TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 22801 15 68606208 68606208 71 NBL diagnosis snv ABCA7 missense V1260M NM_019112 30-PASXIE ABCA7 MISSENSE SNP Somatic 17 0.788 SQHIGH 29 15 44 0 45 45 Cosmic_Gene G G A G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 10347 19 1054620 1054620 120 NBL diagnosis snv UNC13A missense K1204N NM_001080421 30-PASXIE UNC13A MISSENSE SNP Somatic 16 0.646 SQHIGH 38 30 68 0 51 51 Cosmic_Gene C C A C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 23025 19 17741011 17741011 120 NBL diagnosis snv ZNF226 missense P459H NM_001032372 30-PASXIE ZNF226 MISSENSE SNP Somatic 3 0.122 SQHIGH 27 24 51 2 43 45 C C A C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 7769 19 44680791 44680791 71 NBL diagnosis snv GPR112 silent L1726L NM_153834 30-PASXIE GPR112 SYNONYMOUS SNP Somatic 19 0.927 SQHIGH 26 4 30 0 30 30 Cosmic_Gene A T A TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 139378 X 135431043 135431043 124 NBL diagnosis snv OBSCN missense H3363N NM_052843 30-PASXRG OBSCN MISSENSE SNP Somatic PFAM:PF00047:ig 0 0.131 SQHIGH 16 57 73 0 43 43 Cosmic_Gene C C A C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 84033 1 228476337 228476337 35 NBL diagnosis snv GMCL1 nonsense E512* NM_178439 30-PASXRG GMCL1 NONSENSE SNP Somatic 3 0.172 SQHIGH 12 14 26 0 23 23 Cosmic_Gene G G T G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 64395 2 70106122 70106122 40 NBL diagnosis snv SPATA16 missense T270A NM_031955 30-PASXRG SPATA16 MISSENSE SNP Somatic 11 0.379 SQHIGH 11 27 38 0 26 26 Cosmic_Gene T T C T T TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 83893 3 172737316 172737316 28 NBL diagnosis snv PDCL2 missense K74N NM_152401 30-PASXRG PDCL2 MISSENSE SNP Somatic -4 0.093 SQHIGH 6 26 32 0 34 34 C C A C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 132954 4 56436025 56436025 20 NBL diagnosis snv CTNND2 missense Q1175K NM_001332 30-PASXRG CTNND2 MISSENSE SNP Somatic 0 0.131 SQHIGH 11 31 42 1 41 42 Cosmic_Gene G G T G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 1501 5 10973720 10973720 28 NBL diagnosis snv JADE2 missense Q507K NM_015288 30-PASXRG JADE2 MISSENSE SNP Somatic -5 0.087 SQHIGH 9 32 41 0 67 67 C C A C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 23338 5 133909419 133909419 40 NBL diagnosis snv STK32A silent P222P NM_001112724 30-PASXRG STK32A SYNONYMOUS SNP Somatic -4 0.093 SQHIGH 5 26 31 0 46 46 Cosmic_Gene G G A G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 202374 5 146750222 146750222 21 NBL diagnosis snv ATP10B missense M451I NM_025153 30-PASXRG ATP10B MISSENSE SNP Somatic 17 0.816 SQHIGH 22 22 44 0 62 62 Cosmic_Gene C C A C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 23120 5 160061389 160061389 102 NBL diagnosis snv MAPK9 missense H318Q NM_139068 30-PASXRG MAPK9 MISSENSE SNP Somatic -9 0.063 SQHIGH 4 12 16 0 47 47 Cosmic_Gene G G C G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 5601 5 179668073 179668073 25 NBL diagnosis snv ZBTB2 silent G31G NM_020861 30-PASXRG ZBTB2 SYNONYMOUS SNP Somatic PFAM:PF00651:BTB -9 0.063 SQHIGH 4 27 31 0 36 36 Cosmic_Gene G G T G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 57621 6 151694680 151694680 14 NBL diagnosis snv HOXA-AS2 EXON E2_exon NM_002141 30-PASXRG HOXA4|HOXA3 UTR3|TSS-UPSTREAM SNP Somatic 9 0.313 SQHIGH 14 28 42 0 47 47 Cosmic_Gene G G T G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 3201|3200 7 27168170 27168170 52 NBL diagnosis snv AASS missense A300S NM_005763 30-PASXRG AASS MISSENSE SNP Somatic PFAM:PF00670:AdoHcyase_NAD PFAM:PF01262:AlaDh_PNT_C 14 0.544 SQHIGH 23 31 54 0 47 47 Cosmic_Gene C C A C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 10157 7 121755273 121755273 75 NBL diagnosis snv CHPF2 missense P644L NM_019015 30-PASXRG MIR671|CHPF2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01644:Chitin_synth_1 11 0.379 SQHIGH 11 14 25 0 23 23 Cosmic_Gene C C T C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 768213|54480 7 150935379 150935379 37 NBL diagnosis snv FAM83H missense H188Y NM_198488 30-PASXRG LOC100128338|FAM83H TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF07894:DUF1669 5 0.206 SQHIGH 7 30 37 0 41 41 Cosmic_Gene G G A G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 100128338|286077 8 144811379 144811379 24 NBL diagnosis snv CYP2C9 missense R377G NM_000771 30-PASXRG CYP2C9 MISSENSE SNP Somatic PFAM:PF00067:p450 15 0.628 SQHIGH 31 2 33 1 51 52 Cosmic_Gene A G G A A TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 1559 10 96741107 96741107 190 NBL diagnosis snv PDCD11 missense G192C NM_014976 30-PASXRG PDCD11 MISSENSE SNP Somatic -1 0.120 SQHIGH 5 28 33 0 37 37 Cosmic_Gene G G T G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 22984 10 105165751 105165751 17 NBL diagnosis snv LRRIQ1 missense S1372F NM_001079910 30-PASXRG LRRIQ1 MISSENSE SNP Somatic -2 0.110 SQHIGH 5 32 37 0 34 34 Cosmic_Gene C C T C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 84125 12 85521717 85521717 15 NBL diagnosis snv FAM71C missense M6T NM_153364 30-PASXRG FAM71C|ANKS1B MISSENSE|INTRON SNP Somatic -6 0.081 SQHIGH 6 21 27 0 23 23 T T C T T TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 196472|56899 12 100041969 100041969 17 NBL diagnosis snv FANCM missense M1397L NM_020937 30-PASXRG FANCM MISSENSE SNP Somatic 1 0.143 SQHIGH 9 34 43 0 37 37 Cosmic_Gene A A C A A TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 57697 14 45646146 45646146 26 NBL diagnosis snv MFGE8 missense C216F NM_005928 30-PASXRG MFGE8 MISSENSE SNP Somatic -5 0.087 SQHIGH 5 33 38 0 40 40 Cosmic_Gene C C A C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 4240 15 89449026 89449026 16 NBL diagnosis snv RANBP10 silent G503G NM_020850 30-PASXRG RANBP10 SYNONYMOUS SNP Somatic 3 0.172 SQHIGH 15 37 52 0 58 58 Cosmic_Gene G G T G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 57610 16 67761765 67761765 54 NBL diagnosis snv PITPNM3 splice_region A477_E12splice_region NM_031220 30-PASXRG PITPNM3 ACCEPTOR SNP Somatic -10 0.059 SQHIGH 9 35 44 0 45 45 Cosmic_Gene G G T G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 83394 17 6374684 6374684 30 NBL diagnosis snv IGF2BP1 silent S436S NM_006546 30-PASXRG IGF2BP1 SYNONYMOUS SNP dbsnp.134:rs142465987 Somatic -7 0.074 SQHIGH 12 81 93 0 52 52 Cosmic_Gene C C T C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 10642 17 47121436 47121436 24 NBL diagnosis snv LENG8 missense H720Y NM_052925 30-PASXRG LENG8 MISSENSE SNP Somatic PFAM:PF01399:PCI -2 0.110 SQHIGH 5 20 25 0 60 60 Cosmic_Gene C C T C C TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 114823 19 54969618 54969618 28 NBL diagnosis snv CECR2 silent R44R NM_001290046 30-PASXRG CECR2 SYNONYMOUS SNP Somatic 10 0.344 SQHIGH 16 28 44 0 44 44 Cosmic_Gene G G A G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 27443 22 17979738 17979738 55 NBL diagnosis snv MAGEB2 missense L123F NM_002364 30-PASXRG MAGEB2 MISSENSE SNP Somatic PFAM:PF01454:MAGE -1 0.120 SQHIGH 6 23 29 0 57 57 Cosmic_Gene G G T G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 4113 X 30237066 30237066 30 NBL diagnosis snv FTH1P18 silent G189G NM_001271682 30-PASXRG SNP Somatic 19 0.922 SQHIGH 13 11 24 0 33 33 G G T G G TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D X 37061195 37061195 60 NBL diagnosis snv INPP5B missense E319D NM_005540 30-PASYLD INPP5B MISSENSE SNP Somatic -7 0.046 SQHIGH 8 57 65 0 46 46 Cosmic_Gene C C G C C TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 3633 1 38353080 38353080 19 NBL diagnosis snv AXDND1 silent S893S NM_144696 30-PASYLD AXDND1 SYNONYMOUS SNP Somatic -4 0.059 SQHIGH 9 62 71 0 52 52 Cosmic_Gene C C A C C TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 126859 1 179497530 179497530 22 NBL diagnosis snv NID1 silent S85S NM_002508 30-PASYLD NID1 SYNONYMOUS SNP Somatic -5 0.054 SQHIGH 5 31 36 0 40 40 Cosmic_Gene A A G A A TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 4811 1 236212260 236212260 17 NBL diagnosis snv BCL11A missense P646L NM_022893 30-PASYLD BCL11A INTRON,MISSENSE SNP Somatic 2 0.109 SQHIGH 7 31 38 0 45 45 Cosmic_Gene G G A G G TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 53335 2 60688110 60688110 25 NBL diagnosis snv HK2 missense V22D NM_000189 30-PASYLD HK2 MISSENSE SNP Somatic PFAM:PF00349:Hexokinase_1 -8 0.043 SQHIGH 6 41 47 0 70 70 Cosmic_Gene T T A T T TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 3099 2 75081421 75081421 25 NBL diagnosis snv SPEG missense S821T NM_005876 30-PASYLD SPEG UTR5,MISSENSE SNP Somatic -5 0.054 SQHIGH 4 24 28 0 40 40 Cosmic_Gene G G C G G TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 10290 2 220326625 220326625 16 NBL diagnosis snv HPSE missense N439I NM_006665 30-PASYLD HPSE MISSENSE SNP Somatic -10 0.036 SQHIGH 5 39 44 0 37 37 Cosmic_Gene T T A T T TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 10855 4 84223312 84223312 14 NBL diagnosis snv SAR1B missense F12Y NM_001033503 30-PASYLD SAR1B MISSENSE SNP Somatic 11 0.332 SQHIGH 6 26 32 0 36 36 A A T A A TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 51128 5 133959675 133959675 21 NBL diagnosis snv TRPC7 splice_region T615_E7splice_region NM_020389 30-PASYLD TRPC7 INTRON SNP Somatic -9 0.039 SQHIGH 7 49 56 0 67 67 T T A T T TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 57113 5 135583152 135583152 25 NBL diagnosis snv DAB2IP missense S477R NM_032552 30-PASYLD DAB2IP MISSENSE SNP Somatic -8 0.043 SQHIGH 6 32 38 0 33 33 Cosmic_Gene A A C A A TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 153090 9 124528825 124528825 17 NBL diagnosis snv ARAP1 silent R983R NM_015242 30-PASYLD ARAP1 SYNONYMOUS SNP Somatic PFAM:PF00789:UBX 5 0.153 SQHIGH 17 57 74 0 108 108 Cosmic_Gene C C T C C TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 116985 11 72406035 72406035 72 NBL diagnosis snv E2F7 missense D74G NM_203394 30-PASYLD E2F7 MISSENSE SNP Somatic 6 0.174 SQHIGH 10 28 39 0 50 50 Cosmic_Gene T T C T T TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 144455 12 77449783 77449783 40 NBL diagnosis snv ACTN1 missense R816G NM_001130004 30-PASYLD ACTN1 MISSENSE SNP Somatic 5 0.153 SQHIGH 14 44 58 0 65 65 Cosmic_Gene G G C G G TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 87 14 69343939 69343939 50 NBL diagnosis snv MAGEL2 missense L51F NM_019066 30-PASYLD MAGEL2 MISSENSE SNP Somatic 3 0.119 SQHIGH 16 50 66 0 63 63 C C G C C TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 54551 15 23892737 23892737 51 NBL diagnosis snv BLM missense I892T NM_000057 30-PASYLD BLM MISSENSE SNP Somatic 8 0.221 SQHIGH 11 38 49 0 39 39 Cosmic_Gene T T C T T TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 641 15 91328163 91328163 30 NBL diagnosis snv SULT1A2 missense L189F NM_001054 30-PASYLD SULT1A2 MISSENSE SNP Somatic PFAM:PF00685:Sulfotransfer_1 3 0.119 SQHIGH 13 66 79 0 53 53 G G A G G TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 6799 16 28604602 28604602 31 NBL diagnosis snv SLFN11 missense P12L NM_001104587 30-PASYLD SLFN11 MISSENSE SNP Somatic 8 0.221 SQHIGH 11 32 43 1 51 52 Cosmic_Gene G G A G G TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 91607 17 33690792 33690792 32 NBL diagnosis snv TMEM241 splice_region S128_E6splice_region NM_032933 30-PASYLD TMEM241 DONOR SNP Somatic -2 0.072 SQHIGH 5 28 33 0 43 43 C C T C C TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 85019 18 20957605 20957605 19 NBL diagnosis snv WDR62 missense V465M NM_001083961 30-PASYLD WDR62 MISSENSE SNP Somatic PFAM:PF00400:WD40 18 0.918 SQHIGH 11 18 29 0 37 37 G G A G G TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 284403 19 36573986 36573986 45 NBL diagnosis snv CENPB nonsense E464* NM_001810 30-PASYLD SPEF1|CENPB TSS-UPSTREAM|NONSENSE SNP Somatic 1 0.097 SQHIGH 17 68 85 0 72 72 C C A C C TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 25876|1059 20 3765741 3765741 49 NBL diagnosis snv MYH7B missense G796D NM_020884 30-PASYLD MYH7B|MIR499A MISSENSE|TSS-UPSTREAM SNP Somatic 3 0.119 SQHIGH 9 14 23 1 22 23 Cosmic_Gene G G A G G TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 57644|100616134 20 33580982 33580982 23 NBL diagnosis snv PMEPA1 missense V55M NM_020182 30-PASYLD PMEPA1 MISSENSE SNP Somatic -8 0.043 SQHIGH 6 23 29 1 31 32 Cosmic_Gene C C T C C TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 56937 20 56234700 56234700 14 NBL diagnosis snv DRG1 missense Q197R NM_004147 30-PASYLD DRG1 MISSENSE SNP Somatic -5 0.054 SQHIGH 9 41 50 0 46 46 Cosmic_Gene A A G A A TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 4733 22 31819273 31819273 27 NBL diagnosis snv POF1B missense N268S NM_024921 30-PASYLD POF1B MISSENSE SNP Somatic 4 0.132 SQHIGH 9 6 15 0 14 14 T C T TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 79983 X 84586006 84586006 33 NBL diagnosis complex HIST1H2BD frameshift K86_R87fs NM_021063 30-PASYLD HIST1H2BD FRAMESHIFT Sub Somatic PFAM:PF00808:CBFD_NFYB_HMF -10 0.230 SQHIGH 7 44 51 0 47 47 Cosmic_Gene AAGCG AAGCG AGTA AAGCG AAGCG TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 3017 6 26158653 26158657 21 NBL diagnosis snv DHRS3 silent L165L NM_004753 30-PASYPX DHRS3 SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 18 35 53 0 46 46 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 9249 1 12638949 12638949 56 NBL diagnosis snv EPHA8 missense P789T NM_020526 30-PASYPX EPHA8 MISSENSE SNP Somatic PFAM:PF03109:ABC1 -2 0.099 SQHIGH 10 30 40 0 53 53 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 2046 1 22925517 22925517 40 NBL diagnosis snv ZMYM1 missense R814H NM_024772 30-PASYPX ZMYM1 MISSENSE SNP Somatic 3 0.154 SQHIGH 8 26 34 0 56 56 G G A G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 79830 1 35579872 35579872 36 NBL diagnosis snv EPRS missense A280P NM_004446 30-PASYPX EPRS MISSENSE SNP Somatic PFAM:PF08218:Citrate_ly_lig 12 0.400 SQHIGH 15 30 45 0 43 43 Cosmic_Gene C C G C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 2058 1 220197711 220197711 50 NBL diagnosis snv RAB11FIP5 silent P651P NM_015470 30-PASYPX RAB11FIP5|SFXN5 SYNONYMOUS|TSS-UPSTREAM SNP dbsnp.134:rs138778775 Somatic 6 0.217 SQHIGH 20 40 60 0 62 62 Cosmic_Gene G G A G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 26056|94097 2 73302658 73302658 70 NBL diagnosis snv STAT1 silent L484L NM_007315 30-PASYPX STAT1 SYNONYMOUS SNP Somatic PFAM:PF02864:STAT_bind 17 0.838 SQHIGH 10 18 28 0 42 42 Cosmic_Gene C C T C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 6772 2 191847239 191847239 45 NBL diagnosis snv C2orf66 missense A102S NM_213608 30-PASYPX C2orf66 MISSENSE SNP dbsnp.132:rs113537603 Somatic 4 0.169 SQHIGH 6 33 39 0 33 33 C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 401027 2 197672217 197672217 17 NBL diagnosis snv C2orf66 missense S101T NM_213608 30-PASYPX C2orf66 MISSENSE SNP dbsnp.132:rs111570616 Somatic 1 0.128 SQHIGH 7 33 40 0 34 34 A A T A A TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 401027 2 197672220 197672220 20 NBL diagnosis snv PRKAG3 missense D312E NM_017431 30-PASYPX PRKAG3 MISSENSE SNP Somatic 1 0.128 SQHIGH 27 56 83 1 62 63 Cosmic_Gene G G C G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 53632 2 219692036 219692036 64 NBL diagnosis snv SCN5A missense T1858N NM_198056 30-PASYPX SCN5A MISSENSE SNP Somatic 10 0.319 SQHIGH 22 34 56 0 63 63 Cosmic_Gene G G T G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 6331 3 38592290 38592290 84 NBL diagnosis snv FAM131A silent P298P NM_144635 30-PASYPX FAM131A SYNONYMOUS SNP Somatic 11 0.355 SQHIGH 14 31 45 1 53 54 Cosmic_Gene A A C A A TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 131408 3 184062551 184062551 44 NBL diagnosis snv ATP13A5 missense N853K NM_198505 30-PASYPX ATP13A5 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase 9 0.290 SQHIGH 12 30 42 0 51 51 Cosmic_Gene G G T G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 344905 3 193025125 193025125 46 NBL diagnosis snv JAKMIP1 missense A587T NM_001099433 30-PASYPX JAKMIP1 MISSENSE SNP Somatic 16 0.699 SQHIGH 19 21 40 0 58 58 Cosmic_Gene C C T C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 152789 4 6055824 6055824 88 NBL diagnosis snv LEF1 missense V318F NM_016269 30-PASYPX LEF1 MISSENSE SNP Somatic 17 0.838 SQHIGH 19 26 45 0 55 55 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 51176 4 108999432 108999432 77 NBL diagnosis snv TMCO6 missense T78R NM_018502 30-PASYPX TMCO6 MISSENSE SNP Somatic 7 0.241 SQHIGH 18 41 59 0 69 69 C C G C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 55374 5 140021284 140021284 68 NBL diagnosis snv PCDHGA11 silent T268T NM_018914 30-PASYPX PCDHGB5|PCDHGB4|PCDHGA6|PCDHGB7|PCDHGB2|PCDHGA10|PCDHGA8|PCDHGA3|PCDHGB3|PCDHGA4|PCDHGA11|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGB8P|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGB6 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON SNP dbsnp.134:rs142786204 Somatic 9 0.290 SQHIGH 29 45 74 0 66 66 Cosmic_Gene G G A G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 56101|8641|56109|56099|56103|56106|9708|56112|56102|56111|56105|56107|56104|56108|56120|56113|56110|56114|56100 5 140801598 140801598 94 NBL diagnosis snv NKX2-5 silent G227G NM_004387 30-PASYPX NKX2-5 UTR3,SYNONYMOUS SNP Somatic 4 0.169 SQHIGH 19 23 42 2 45 47 Cosmic_Gene G G A G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 1482 5 172659866 172659866 54 NBL diagnosis snv DEFB113 nonsense W49* NM_001037729 30-PASYPX DEFB114|DEFB113 TSS-UPSTREAM|NONSENSE SNP Somatic -3 0.090 SQHIGH 4 17 21 0 32 32 Cosmic_Gene C C T C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 245928|245927 6 49936492 49936492 17 NBL diagnosis snv KIAA1919 missense A325E NM_153369 30-PASYPX KIAA1919 MISSENSE SNP Somatic PFAM:PF07690:MFS_1 14 0.521 SQHIGH 13 21 34 0 54 54 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 91749 6 111587739 111587739 61 NBL diagnosis snv AHR missense S534C NM_001621 30-PASYPX AHR MISSENSE SNP Somatic 12 0.400 SQHIGH 23 36 59 0 62 62 Cosmic_Gene A A T A A TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 196 7 17379049 17379049 84 NBL diagnosis snv NACAD silent I465I NM_001146334 30-PASYPX LOC100128364|NACAD TSS-UPSTREAM|SYNONYMOUS SNP Somatic 5 0.186 SQHIGH 26 66 92 0 72 72 G G T G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 100128364|23148 7 45124384 45124384 73 NBL diagnosis snv SSC4D missense V497F NM_080744 30-PASYPX SSC4D MISSENSE SNP Somatic PFAM:PF00530:SRCR 1 0.128 SQHIGH 28 73 101 0 79 79 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 136853 7 76019615 76019615 79 NBL diagnosis snv ACTL6B missense Q411K NM_016188 30-PASYPX ACTL6B|TFR2 MISSENSE|TSS-UPSTREAM SNP Somatic 11 0.355 SQHIGH 11 34 45 0 24 24 Cosmic_Gene G G T G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 51412|7036 7 100240919 100240919 23 NBL diagnosis snv LAMC3 silent E653E NM_006059 30-PASYPX LAMC3 SYNONYMOUS SNP Somatic PFAM:PF00052:Laminin_B 9 0.290 SQHIGH 23 47 70 0 58 58 Cosmic_Gene G G A G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 10319 9 133932335 133932335 69 NBL diagnosis snv OR51S1 missense S150R NM_001004758 30-PASYPX OR51S1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 6 0.217 SQHIGH 20 71 91 0 52 52 Cosmic_Gene G G T G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 119692 11 4869989 4869989 43 NBL diagnosis snv OR6C70 missense C177F NM_001005499 30-PASYPX OR6C70 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 2 0.140 SQHIGH 14 52 66 0 45 45 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 390327 12 55863393 55863393 34 NBL diagnosis snv SSH1 missense D991E NM_018984 30-PASYPX SSH1 MISSENSE SNP Somatic 1 0.128 SQHIGH 33 72 105 0 45 45 Cosmic_Gene G G T G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 54434 12 109181941 109181941 59 NBL diagnosis snv SCARB1 silent S4S NM_005505 30-PASYPX SCARB1 SYNONYMOUS SNP dbsnp.96:rs2070242 Somatic -9 0.057 SQHIGH 10 12 22 0 14 14 Cosmic_Gene G G A G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 949 12 125348255 125348255 26 NBL diagnosis snv TTC5 silent V433V NM_138376 30-PASYPX TTC5 SYNONYMOUS SNP Somatic 16 0.699 SQHIGH 11 15 26 0 25 25 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 91875 14 20757810 20757810 38 NBL diagnosis snv SYNE2 silent G1415G NM_015180 30-PASYPX SYNE2 SYNONYMOUS SNP Somatic 8 0.264 SQHIGH 23 43 66 0 65 65 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 23224 14 64469896 64469896 79 NBL diagnosis snv EIF2AK4 missense E1591K NM_001013703 30-PASYPX EIF2AK4 MISSENSE SNP Somatic PFAM:PF12745:HGTP_anticodon2 11 0.355 SQHIGH 13 30 43 0 50 50 Cosmic_Gene G G A G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 440275 15 40325000 40325000 49 NBL diagnosis snv DUOX1 silent R1294R NM_017434 30-PASYPX DUOX1 SYNONYMOUS SNP Somatic 15 0.623 SQHIGH 22 24 46 1 44 45 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 53905 15 45453959 45453959 68 NBL diagnosis snv HCN4 missense P873A NM_005477 30-PASYPX HCN4 MISSENSE SNP Somatic 17 0.838 SQHIGH 12 16 28 0 39 39 Cosmic_Gene G G C G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 10021 15 73615817 73615817 53 NBL diagnosis snv SEZ6L2 nonsense C729* NM_012410 30-PASYPX SEZ6L2 NONSENSE SNP Somatic 4 0.169 SQHIGH 22 50 72 0 51 51 Cosmic_Gene G G T G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 26470 16 29884652 29884652 58 NBL diagnosis snv TEX2 missense G757V NM_018469 30-PASYPX TEX2 MISSENSE SNP Somatic 5 0.186 SQHIGH 15 37 52 0 24 24 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 55852 17 62265703 62265703 28 NBL diagnosis snv EPG5 missense C1173R NM_020964 30-PASYPX EPG5 MISSENSE SNP Somatic 14 0.521 SQHIGH 11 28 39 0 51 51 Cosmic_Gene A A G A A TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 57724 18 43496039 43496039 44 NBL diagnosis snv FBXO15 silent P158P NM_152676 30-PASYPX FBXO15 SYNONYMOUS SNP Somatic 1 0.128 SQHIGH 17 26 43 0 45 45 Cosmic_Gene T T A T T TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 201456 18 71796723 71796723 62 NBL diagnosis snv PTPRH nonsense E714* NM_002842 30-PASYPX PTPRH NONSENSE SNP Somatic 9 0.290 SQHIGH 9 30 39 1 52 53 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 5794 19 55708007 55708007 28 NBL diagnosis snv BPIFB2 missense A118P NM_025227 30-PASYPX BPIFB2 MISSENSE SNP Somatic PFAM:PF02886:LBP_BPI_CETP_C -6 0.073 SQHIGH 4 19 23 0 37 37 G G C G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 80341 20 31601659 31601659 17 NBL diagnosis snv DBNDD2 missense R17Q NM_001048221 30-PASYPX LOC100128997|DBNDD2|SYS1-DBNDD2 TSS-UPSTREAM|MISSENSE|UTR SNP Somatic PFAM:PF04440:Dysbindin 14 0.521 SQHIGH 11 14 25 0 24 24 G G A G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 100128997|55861|767557 20 44037157 44037157 38 NBL diagnosis snv SREBF2 missense G65S NM_004599 30-PASYPX SREBF2 MISSENSE SNP dbsnp.134:rs149228318 Somatic -8 0.061 SQHIGH 4 7 11 0 12 12 Cosmic_Gene G G A G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 6721 22 42262939 42262939 14 NBL diagnosis snv SREBF2 silent A1107A NM_004599 30-PASYPX SREBF2 SYNONYMOUS SNP Somatic 10 0.319 SQHIGH 9 7 16 1 22 23 Cosmic_Gene C C T C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 6721 22 42301559 42301559 34 NBL diagnosis snv SYP missense G138W NM_003179 30-PASYPX SYP MISSENSE SNP Somatic PFAM:PF01284:MARVEL 7 0.241 SQHIGH 20 38 58 1 91 92 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 6855 X 49050634 49050634 81 NBL diagnosis snv AKAP4 missense D527Y NM_003886 30-PASYPX AKAP4 MISSENSE SNP Somatic PFAM:PF05716:AKAP_110 4 0.169 SQHIGH 24 56 80 0 91 91 Cosmic_Gene C C A C C TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 8852 X 49957785 49957785 89 NBL diagnosis snv IL9R missense W38L NM_176786 30-PASYPX IL9R INTRON,UTR SNP Somatic -6 0.073 SQHIGH 7 30 37 0 52 52 G G T G G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 3581 X 155231141 155231141 28 NBL diagnosis mnv MTM1 nonsense S370_V371>*R NM_000252 30-PASYPX MTM1 NONSENSE Sub Somatic PFAM:PF03162:Y_phosphatase2 -4 0.383 SQHIGH 4 14 18 1 40 41 Cosmic_Gene CAGT CAGT GACG CAGT CAGT TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 4534 X 149826349 149826352 16 NBL diagnosis snv NT5C1B missense R392G NM_001002006 30-PASZKE NT5C1B-RDH14|NT5C1B MISSENSE|MISSENSE SNP Somatic PFAM:PF06189:5-nucleotidase -34 0.003 7 36 43 0 46 46 Cosmic_Gene G G C G G TARGET-30-PASZKE-01A-01D TARGET-30-PASZKE-10A-01D 100526794|93034 2 18764161 18764161 23 NBL diagnosis snv USP6 missense L1123P NM_004505 30-PASZKE USP6 MISSENSE SNP Somatic -9 0.064 SQHIGH 5 26 31 0 26 26 Cosmic_Gene T T C T T TARGET-30-PASZKE-01A-01D TARGET-30-PASZKE-10A-01D 9098 17 5072201 5072201 14 NBL diagnosis snv PABPC1L silent T469T NM_001124756 30-PASZKE PABPC1L SYNONYMOUS SNP Somatic 0 0.147 SQHIGH 3 5 8 0 17 17 Cosmic_Gene C C G C C TARGET-30-PASZKE-01A-01D TARGET-30-PASZKE-10A-01D 80336 20 43561789 43561789 16 NBL diagnosis complex TMEM173 frameshift L51_A52fs NM_198282 30-PASZKE TMEM173 FRAMESHIFT Sub Somatic -10 0.295 SQHIGH 8 28 36 0 36 36 Cosmic_Gene GCT GCT GACC GCT GCT TARGET-30-PASZKE-01A-01D TARGET-30-PASZKE-10A-01D 340061 5 138861135 138861137 26 NBL diagnosis complex RIPK4 nonsense Y98* NM_020639 30-PASZKE RIPK4 FRAMESHIFT Sub Somatic -6 0.373 SQHIGH 6 24 30 1 31 32 Cosmic_Gene GT GT GAC GT GT TARGET-30-PASZKE-01A-01D TARGET-30-PASZKE-10A-01D 54101 21 43176865 43176866 14 NBL diagnosis snv PLXNA1 missense V1201L NM_032242 30-PATAYJ PLXNA1 MISSENSE SNP Somatic 0 0.118 SQHIGH 5 17 22 0 22 22 Cosmic_Gene G G C G G TARGET-30-PATAYJ-01A-01D TARGET-30-PATAYJ-10A-01D 5361 3 126736676 126736676 16 NBL diagnosis snv DCHS2 missense D1589G NM_017639 30-PATAYJ DCHS2 MISSENSE SNP Somatic -10 0.048 SQHIGH 7 35 42 1 44 45 Cosmic_Gene T T C T T TARGET-30-PATAYJ-01A-01D TARGET-30-PATAYJ-10A-01D 54798 4 155219335 155219335 16 NBL diagnosis snv CSAD silent V158V NM_015989 30-PATAYJ CSAD SYNONYMOUS SNP Somatic -2 0.097 SQHIGH 6 52 58 0 49 49 Cosmic_Gene C C G C C TARGET-30-PATAYJ-01A-01D TARGET-30-PATAYJ-10A-01D 51380 12 53565724 53565724 16 NBL diagnosis snv CROCC missense R1143G NM_014675 30-PATBMM CROCC MISSENSE SNP Somatic 1 0.165 SQHIGH 6 12 18 0 40 40 Cosmic_Gene C C G C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 9696 1 17281334 17281334 33 NBL diagnosis snv PDE4B splice_region C94_E4splice_region NM_002600 30-PATBMM PDE4B ACCEPTOR SNP Somatic 11 0.433 SQHIGH 10 27 37 0 71 71 Cosmic_Gene T T G T T TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 5142 1 66713138 66713138 50 NBL diagnosis snv SELL missense A362S NM_000655 30-PATBMM SELL MISSENSE,UTR SNP Somatic 3 0.198 SQHIGH 11 39 50 0 56 56 C C A C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 6402 1 169670737 169670737 39 NBL diagnosis snv LAMC2 missense C470F NM_005562 30-PATBMM LAMC2 MISSENSE SNP Somatic 2 0.181 SQHIGH 11 40 51 0 45 45 Cosmic_Gene G G T G G TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 3918 1 183196773 183196773 33 NBL diagnosis snv CR2 nonsense E456* NM_001006658 30-PATBMM CR2 NONSENSE SNP Somatic -3 0.116 SQHIGH 8 39 47 0 32 32 Cosmic_Gene G G T G G TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 1380 1 207644225 207644225 19 NBL diagnosis snv ARPC2 missense R300C NM_152862 30-PATBMM ARPC2 MISSENSE SNP Somatic 1 0.165 SQHIGH 10 30 40 0 49 49 Cosmic_Gene C C T C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 10109 2 219118633 219118633 38 NBL diagnosis snv TMPRSS11F splice G387_E10splice NM_207407 30-PATBMM TMPRSS11F DISRUPT SNP Somatic 4 0.217 SQHIGH 9 32 41 0 48 48 Cosmic_Gene C C A C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 389208 4 68919786 68919786 33 NBL diagnosis snv AMACR missense A190S NM_203382 30-PATBMM C1QTNF3-AMACR|AMACR UTR|SYNONYMOUS,MISSENSE SNP Somatic PFAM:PF02515:CoA_transf_3 -1 0.139 SQHIGH 5 14 19 0 15 15 C C A C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 100534612|23600 5 33998756 33998756 14 NBL diagnosis snv ACOT12 splice R327_E10splice NM_130767 30-PATBMM ACOT12 DISRUPT SNP Somatic -6 0.092 SQHIGH 8 44 52 0 43 43 Cosmic_Gene C C A C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 134526 5 80639701 80639701 22 NBL diagnosis snv PCDHGB5 silent L167L NM_018925 30-PATBMM PCDHGA8|PCDHGA3|PCDHGB3|PCDHGB5|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 INTRON|INTRON|INTRON|SYNONYMOUS|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 3 0.198 SQHIGH 12 33 45 0 44 44 Cosmic_Gene G G T G G TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 9708|56112|56102|56101|56111|56107|56104|56108|8641|56113|56110|56114|56109|56103 5 140778195 140778195 39 NBL diagnosis snv LATS1 missense S272P NM_004690 30-PATBMM LATS1 MISSENSE SNP Somatic -10 0.067 SQHIGH 5 34 39 0 50 50 Cosmic_Gene A A G A A TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 9113 6 150005411 150005411 19 NBL diagnosis snv LOC729658 EXON E5_exon NM_152410 30-PATBMM PACRG|LOC729658 INTRON|INTRON SNP Somatic -7 0.084 SQHIGH 5 14 19 0 26 26 A A T A A TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 135138|729658 6 163603628 163603628 20 NBL diagnosis snv BMPER silent G491G NM_133468 30-PATBMM BMPER SYNONYMOUS SNP Somatic PFAM:PF00094:VWD -4 0.106 SQHIGH 9 62 71 0 43 43 Cosmic_Gene C C A C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 168667 7 34125432 34125432 19 NBL diagnosis snv CLEC5A missense W3L NM_013252 30-PATBMM CLEC5A MISSENSE SNP Somatic 3 0.198 SQHIGH 33 64 97 0 55 55 C C A C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 23601 7 141646085 141646085 75 NBL diagnosis snv NAT2 missense R165W NM_000015 30-PATBMM NAT2 MISSENSE SNP Somatic PFAM:PF00797:Acetyltransf_2 -7 0.084 SQHIGH 7 42 49 0 40 41 Cosmic_Gene A A T A A TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 10 8 18258006 18258006 19 NBL diagnosis snv EXD3 silent A57A NM_017820 30-PATBMM EXD3 SYNONYMOUS SNP Somatic 15 0.679 SQHIGH 11 15 26 0 46 46 G G C G G TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 54932 9 140268001 140268001 56 NBL diagnosis snv DKK1 silent P100P NM_012242 30-PATBMM LOC100506939|DKK1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF04706:Dickkopf_N 0 0.151 SQHIGH 7 8 15 0 16 16 Cosmic_Gene C C A C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 100506939|22943 10 54074739 54074739 26 NBL diagnosis snv OR8I2 missense A202D NM_001003750 30-PATBMM OR8I2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 6 0.267 SQHIGH 13 44 57 1 48 49 Cosmic_Gene C C A C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 120586 11 55861388 55861388 29 NBL diagnosis snv ULK1 splice_region C1033_E27splice_region NM_003565 30-PATBMM ULK1 DONOR SNP Somatic 1 0.165 SQHIGH 8 21 29 0 23 23 Cosmic_Gene A A G A A TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 8408 12 132405784 132405784 22 NBL diagnosis snv UNC79 missense R816I NM_020818 30-PATBMM UNC79 MISSENSE SNP Somatic 7 0.297 SQHIGH 7 6 13 0 29 29 G G T G G TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 57578 14 94053200 94053200 42 NBL diagnosis snv RSL1D1 missense Q354K NM_015659 30-PATBMM RSL1D1 MISSENSE SNP Somatic 15 0.679 SQHIGH 21 28 49 1 40 41 G G T G G TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 26156 16 11933638 11933638 55 NBL diagnosis snv DCAKD missense R36Q NM_024819 30-PATBMM DCAKD MISSENSE SNP Somatic 5 0.237 SQHIGH 12 32 44 1 31 32 C C T C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 79877 17 43112147 43112147 23 NBL diagnosis snv ZNF556 missense R112I NM_024967 30-PATBMM ZNF556 MISSENSE SNP Somatic -6 0.092 SQHIGH 7 48 55 0 44 44 Cosmic_Gene G G T G G TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 80032 19 2877291 2877291 19 NBL diagnosis snv ZNF556 missense R164M NM_024967 30-PATBMM ZNF556 MISSENSE SNP Somatic 4 0.217 SQHIGH 8 27 35 0 41 41 Cosmic_Gene G G T G G TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 80032 19 2877447 2877447 29 NBL diagnosis snv ZNF208 missense W212L NM_007153 30-PATBMM ZNF208 MISSENSE SNP Somatic -2 0.126 SQHIGH 7 29 36 0 30 30 Cosmic_Gene C C A C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 7757 19 22157201 22157201 20 NBL diagnosis snv BMP2 silent S184S NM_001200 30-PATBMM BMP2 SYNONYMOUS SNP Somatic PFAM:PF00688:TGFb_propeptide -8 0.078 SQHIGH 10 42 52 0 41 41 Cosmic_Gene G G T G G TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 650 20 6759097 6759097 27 NBL diagnosis snv OPRL1 missense R259W NM_182647 30-PATBMM OPRL1 MISSENSE SNP dbsnp.134:rs148484121 Somatic PFAM:PF00001:7tm_1 -3 0.116 SQHIGH 10 27 37 0 22 22 Cosmic_Gene C C T C C TARGET-30-PATBMM-01A-01D TARGET-30-PATBMM-10A-01D 4987 20 62729814 62729814 23 NBL diagnosis snv TMEM63A splice Q599_E19splice NM_014698 30-PATCFL TMEM63A DISRUPT SNP Somatic -10 0.050 SQHIGH 5 31 36 0 31 31 Cosmic_Gene C C T C C TARGET-30-PATCFL-01A-01D TARGET-30-PATCFL-10A-01D 9725 1 226041329 226041329 14 NBL diagnosis snv ZNF462 silent P545P NM_021224 30-PATCFL ZNF462 SYNONYMOUS SNP Somatic -3 0.091 SQHIGH 4 21 25 0 30 30 Cosmic_Gene A A G A A TARGET-30-PATCFL-01A-01D TARGET-30-PATCFL-10A-01D 58499 9 109687828 109687828 14 NBL diagnosis snv CDH13 silent Y517Y NM_001257 30-PATCFL CDH13 SYNONYMOUS SNP Somatic -2 0.101 SQHIGH 3 13 16 0 26 26 Cosmic_Gene C C T C C TARGET-30-PATCFL-01A-01D TARGET-30-PATCFL-10A-01D 1012 16 83781725 83781725 13 NBL diagnosis mnv PCDHB15 missense N447_A448>KN NM_018935 30-PATCFL PCDHB15 MISSENSE Sub Somatic -21 0.136 6 22 28 1 33 34 Cosmic_Gene CGC CGC AAA CGC CGC TARGET-30-PATCFL-01A-01D TARGET-30-PATCFL-10A-01D 56121 5 140626487 140626489 15 NBL diagnosis snv GJB3 missense R22H NM_024009 30-PATDXC GJB3 MISSENSE SNP Somatic PFAM:PF00029:Connexin 16 0.695 SQHIGH 20 26 46 0 58 58 G G A G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 2707 1 35250428 35250428 84 NBL diagnosis snv CSF3R missense E145D NM_000760 30-PATDXC CSF3R MISSENSE SNP Somatic 14 0.505 SQHIGH 7 20 27 2 38 40 Cosmic_Gene C C G C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 1441 1 36939415 36939415 17 NBL diagnosis snv CYP4A11 silent G13G NM_000778 30-PATDXC CYP4A11 SYNONYMOUS SNP Somatic 6 0.186 SQHIGH 9 20 29 1 42 43 Cosmic_Gene A A G A A TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 1579 1 47407067 47407067 31 NBL diagnosis snv PPAP2B nonsense W220* NM_003713 30-PATDXC PPAP2B NONSENSE SNP Somatic 13 0.433 SQHIGH 15 17 32 1 38 39 C C T C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 8613 1 56977799 56977799 52 NBL diagnosis snv APOB missense Q3595K NM_000384 30-PATDXC APOB MISSENSE SNP Somatic 11 0.331 SQHIGH 70 40 110 0 69 69 Cosmic_Gene G G T G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 338 2 21228957 21228957 206 NBL diagnosis snv LTBP1 missense A267V NM_206943 30-PATDXC LTBP1 MISSENSE SNP Somatic 15 0.612 SQHIGH 45 31 76 0 58 58 Cosmic_Gene C C T C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 4052 2 33246210 33246210 147 NBL diagnosis snv LRP1B missense D3260Y NM_018557 30-PATDXC LRP1B MISSENSE SNP Somatic -1 0.077 SQHIGH 8 36 44 0 40 40 Cosmic_Gene C C A C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 53353 2 141215068 141215068 24 NBL diagnosis snv STK36 missense A923E NM_015690 30-PATDXC STK36 MISSENSE SNP Somatic 9 0.263 SQHIGH 13 22 35 0 32 32 Cosmic_Gene C C A C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 27148 2 219562192 219562192 42 NBL diagnosis snv B3GNT7 missense V245I NM_145236 30-PATDXC B3GNT7 MISSENSE SNP Somatic PFAM:PF01762:Galactosyl_T 11 0.331 SQHIGH 9 14 23 0 30 30 G G A G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 93010 2 232263163 232263163 37 NBL diagnosis snv PSMD2 missense D638E NM_002808 30-PATDXC PSMD2 MISSENSE SNP Somatic -10 0.036 SQHIGH 8 51 59 1 54 55 C C A C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 5708 3 184024247 184024247 17 NBL diagnosis snv UNC5C missense K872T NM_003728 30-PATDXC UNC5C MISSENSE SNP Somatic -4 0.058 SQHIGH 5 35 40 0 39 39 Cosmic_Gene T T G T T TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 8633 4 96091320 96091320 15 NBL diagnosis snv MFAP3L splice_region G100_E3splice_region NM_021647 30-PATDXC MFAP3L ACCEPTOR SNP Somatic 7 0.213 SQHIGH 15 25 40 1 43 44 Cosmic_Gene G G A G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 9848 4 170913466 170913466 45 NBL diagnosis snv WWC2 missense H146Q NM_024949 30-PATDXC WWC2 MISSENSE SNP Somatic 4 0.136 SQHIGH 22 47 69 2 50 52 Cosmic_Gene C C A C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 80014 4 184129302 184129302 42 NBL diagnosis snv TSPAN17 missense T304S NM_012171 30-PATDXC TSPAN17 UTR3,MISSENSE SNP Somatic -3 0.063 SQHIGH 6 9 15 0 19 19 C C G C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 26262 5 176084611 176084611 24 NBL diagnosis snv FRS3 silent P125P NM_006653 30-PATDXC FRS3 SYNONYMOUS SNP Somatic 10 0.294 SQHIGH 10 28 38 0 57 57 Cosmic_Gene G G A G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 10817 6 41740576 41740576 43 NBL diagnosis snv TDRD6 missense E1207V NM_001010870 30-PATDXC TDRD6|LOC100131283 MISSENSE|TSS-UPSTREAM SNP Somatic 12 0.378 SQHIGH 10 20 30 0 40 40 Cosmic_Gene A A T A A TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 221400|100131283 6 46659485 46659485 41 NBL diagnosis snv REV3L splice_region R1920_E15splice_region NM_002912 30-PATDXC REV3L ACCEPTOR SNP Somatic 7 0.213 SQHIGH 18 35 53 1 52 53 Cosmic_Gene T T A T T TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 5980 6 111689238 111689238 51 NBL diagnosis snv MLXIPL missense I828N NM_032951 30-PATDXC MLXIPL MISSENSE SNP Somatic 16 0.695 SQHIGH 19 24 43 0 67 67 Cosmic_Gene A A T A A TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 51085 7 73008271 73008271 91 NBL diagnosis snv XKR5 missense G355W NM_207411 30-PATDXC XKR5 MISSENSE SNP Somatic 9 0.263 SQHIGH 31 44 75 1 60 61 C C A C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 389610 8 6669717 6669717 83 NBL diagnosis snv CA1 nonsense E107* NM_001128829 30-PATDXC CA1 NONSENSE SNP Somatic 6 0.186 SQHIGH 16 40 56 0 55 55 Cosmic_Gene C C A C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 759 8 86249209 86249209 53 NBL diagnosis snv VPS13B silent E857E NM_152564 30-PATDXC VPS13B SYNONYMOUS SNP Somatic -1 0.077 SQHIGH 9 17 26 0 34 34 Cosmic_Gene A A G A A TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 157680 8 100286481 100286481 37 NBL diagnosis snv TOPORS missense R126H NM_005802 30-PATDXC TOPORS MISSENSE SNP Somatic 11 0.331 SQHIGH 12 29 41 0 44 44 Cosmic_Gene C C T C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 10210 9 32544146 32544146 42 NBL diagnosis snv SARDH missense A271S NM_007101 30-PATDXC SARDH MISSENSE SNP Somatic PFAM:PF06039:Mqo 6 0.186 SQHIGH 18 23 41 0 42 42 C C A C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 1757 9 136595189 136595189 66 NBL diagnosis snv OR5B21 missense I279T NM_001005218 30-PATDXC OR5B21 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -4 0.058 SQHIGH 7 44 51 0 46 46 Cosmic_Gene A A G A A TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 219968 11 58274743 58274743 20 NBL diagnosis snv LRRIQ1 nonsense E1111* NM_001079910 30-PATDXC LRRIQ1 NONSENSE SNP Somatic 10 0.294 SQHIGH 12 34 46 0 43 43 Cosmic_Gene G G T G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 84125 12 85500347 85500347 38 NBL diagnosis snv WDR72 nonsense Q171* NM_182758 30-PATDXC WDR72 NONSENSE SNP Somatic PFAM:PF00400:WD40 10 0.294 SQHIGH 13 31 44 0 44 44 Cosmic_Gene G G A G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 256764 15 54007393 54007393 44 NBL diagnosis snv BPTF silent P226P NM_182641 30-PATDXC BPTF SYNONYMOUS SNP Somatic 0 0.085 SQHIGH 9 35 44 0 45 45 Cosmic_Gene C C G C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 2186 17 65850120 65850120 30 NBL diagnosis snv MUC16 missense G2293W NM_024690 30-PATDXC MUC16 MISSENSE SNP Somatic 3 0.120 SQHIGH 12 57 69 0 68 68 Cosmic_Gene C C A C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 94025 19 9084938 9084938 38 NBL diagnosis snv GCDH silent F287F NM_000159 30-PATDXC GCDH SYNONYMOUS SNP Somatic 10 0.294 SQHIGH 15 27 42 2 47 49 C C T C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 2639 19 13007732 13007732 40 NBL diagnosis snv RYR1 missense R1015C NM_000540 30-PATDXC RYR1 MISSENSE SNP dbsnp.134:rs139006437 Somatic PFAM:PF02026:RyR 17 0.843 SQHIGH 15 19 34 0 30 30 Cosmic_Gene C C T C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 6261 19 38956903 38956903 49 NBL diagnosis snv CEACAM16 missense A160S NM_001039213 30-PATDXC CEACAM16 MISSENSE SNP Somatic PFAM:PF00047:ig 7 0.213 SQHIGH 6 16 22 0 27 27 Cosmic_Gene G G T G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 388551 19 45207383 45207383 23 NBL diagnosis snv IRF2BP1 missense N373K NM_015649 30-PATDXC IRF2BP1 MISSENSE SNP Somatic 8 0.237 SQHIGH 7 16 23 0 26 26 G G T G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 26145 19 46387914 46387914 25 NBL diagnosis snv VPS16 silent G480G NM_022575 30-PATDXC PTPRA|VPS16 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -9 0.039 SQHIGH 3 10 13 0 24 24 Cosmic_Gene C C T C C TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 5786|64601 20 2844008 2844008 14 NBL diagnosis snv PLA2G6 missense A423V NM_003560 30-PATDXC PLA2G6 INTRON,MISSENSE SNP Somatic 4 0.136 SQHIGH 8 23 31 0 33 33 Cosmic_Gene G G A G G TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 8398 22 38524356 38524356 27 NBL diagnosis mnv GREB1 missense T731N NM_014668 30-PATDXC GREB1 MISSENSE Sub Somatic -15 0.192 9 67 76 0 57 57 Cosmic_Gene CG CG AC CG CG TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 9687 2 11738845 11738846 23 NBL diagnosis complex PHLDB1 frameshift Q756fs NM_015157 30-PATDXC PHLDB1 FRAMESHIFT Sub Somatic -10 0.249 SQHIGH 6 22 28 1 32 33 GCA GCA GGAG GCA GCA TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 23187 11 118502899 118502901 15 NBL diagnosis mnv SYNE3 missense T2_Q3>TT NM_152592 30-PATDXC SYNE3 MISSENSE Sub Somatic -9 0.261 SQHIGH 5 15 20 1 28 29 Cosmic_Gene TGA TGA GTC TGA TGA TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 161176 14 95942151 95942153 15 NBL diagnosis snv AK5 missense Q260E NM_174858 30-PATEPF AK5 MISSENSE SNP Somatic 6 0.256 SQHIGH 20 7 27 0 14 14 Cosmic_Gene C C G C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 26289 1 77806140 77806140 55 NBL diagnosis snv FLG missense Q2198R NM_002016 30-PATEPF FLG MISSENSE SNP Somatic 6 0.256 SQHIGH 32 43 75 1 99 100 Cosmic_Gene T T C T T TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 2312 1 152280769 152280769 125 NBL diagnosis snv KCTD18 missense C137F NM_152387 30-PATEPF KCTD18 MISSENSE SNP Somatic 11 0.423 SQHIGH 16 15 31 0 28 28 Cosmic_Gene C C A C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 130535 2 201363770 201363770 56 NBL diagnosis snv CACNA2D3 splice_region E1061_E37splice_region NM_018398 30-PATEPF CACNA2D3 DONOR SNP Somatic 17 0.834 SQHIGH 23 25 48 0 57 57 Cosmic_Gene G G A G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 55799 3 55107891 55107891 95 NBL diagnosis snv PRR23B missense R261C NM_001013650 30-PATEPF PRR23B MISSENSE SNP Somatic PFAM:PF10630:DUF2476 2 0.167 SQHIGH 23 12 35 0 50 50 Cosmic_Gene G G A G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 389151 3 138738723 138738723 116 NBL diagnosis snv NKD2 silent L372L NM_033120 30-PATEPF NKD2 SYNONYMOUS SNP Somatic 18 0.892 SQHIGH 16 13 29 0 35 35 C C A C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 85409 5 1038248 1038248 69 NBL diagnosis snv VCAN silent P2358P NM_004385 30-PATEPF VCAN SYNONYMOUS,INTRON SNP Somatic -9 0.063 SQHIGH 4 18 22 0 42 42 Cosmic_Gene T T C T T TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 1462 5 82835896 82835896 19 NBL diagnosis snv CDYL nonsense E518* NM_004824 30-PATEPF CDYL NONSENSE,UTR SNP Somatic -8 0.068 SQHIGH 16 16 32 0 28 28 G G T G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 9425 6 4954207 4954207 54 NBL diagnosis snv TFEB missense S334Y NM_007162 30-PATEPF TFEB MISSENSE SNP Somatic PFAM:PF11851:DUF3371 17 0.834 SQHIGH 13 25 38 0 42 42 Cosmic_Gene G G T G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 7942 6 41652767 41652767 48 NBL diagnosis snv GPR116 missense V600I NM_015234 30-PATEPF GPR116 MISSENSE SNP Somatic 13 0.528 SQHIGH 15 9 24 0 33 33 Cosmic_Gene C C T C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 221395 6 46834698 46834698 72 NBL diagnosis snv REV3L missense T2340I NM_002912 30-PATEPF REV3L MISSENSE SNP Somatic -3 0.102 SQHIGH 16 12 28 0 19 19 Cosmic_Gene G G A G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 5980 6 111680078 111680078 47 NBL diagnosis snv UST missense K3N NM_005715 30-PATEPF UST MISSENSE SNP Somatic -5 0.087 SQHIGH 6 10 16 0 11 11 Cosmic_Gene G G T G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 10090 6 149068575 149068575 16 NBL diagnosis snv SRRM3 silent S558S NM_001291831 30-PATEPF SRRM3 SYNONYMOUS SNP Somatic -1 0.124 SQHIGH 5 1 6 0 12 12 G C C G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 222183 7 75912360 75912360 32 NBL diagnosis snv LAMB1 missense R738G NM_002291 30-PATEPF LAMB1 MISSENSE SNP Somatic 13 0.528 SQHIGH 25 39 64 0 41 41 Cosmic_Gene G G C G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 3912 7 107600992 107600992 64 NBL diagnosis snv MET missense G1201D NM_001127500 30-PATEPF MET MISSENSE SNP Somatic -2 0.112 SQHIGH 8 43 51 0 25 25 Cosmic_Gene G G A G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 4233 7 116422067 116422067 15 NBL diagnosis snv CFTR missense R74W NM_000492 30-PATEPF CFTR MISSENSE SNP dbsnp.132:rs115545701 Somatic 13 0.528 SQHIGH 39 24 63 0 37 37 Cosmic_Gene C C T C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 1080 7 117149143 117149143 108 NBL diagnosis snv STAU2 missense F431I NM_001164382 30-PATEPF STAU2 INTRON,MISSENSE SNP Somatic 4 0.203 SQHIGH 11 28 39 0 33 33 A A T A A TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 27067 8 74439967 74439967 33 NBL diagnosis snv ZFAND1 missense V263I NM_024699 30-PATEPF ZFAND1 MISSENSE,UTR SNP Somatic -1 0.124 SQHIGH 16 9 25 0 11 11 Cosmic_Gene C C T C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 79752 8 82614950 82614950 36 NBL diagnosis snv MROH1 silent D214D NM_032450 30-PATEPF MROH1 SYNONYMOUS SNP Somatic 3 0.183 SQHIGH 19 31 50 0 31 31 C C T C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 727957 8 145245766 145245766 47 NBL diagnosis snv DOCK8 missense A196D NM_203447 30-PATEPF DOCK8 MISSENSE SNP Somatic -1 0.124 SQHIGH 19 20 39 0 44 44 Cosmic_Gene C C A C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 81704 9 312012 312012 76 NBL diagnosis snv C9orf135 nonsense K149* NM_001010940 30-PATEPF C9orf135 NONSENSE SNP Somatic 14 0.601 SQHIGH 14 17 31 0 47 47 Cosmic_Gene A A T A A TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 138255 9 72472889 72472889 66 NBL diagnosis snv COL15A1 missense M677I NM_001855 30-PATEPF COL15A1 MISSENSE SNP Somatic 16 0.739 SQHIGH 29 32 61 0 62 62 Cosmic_Gene G G A G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 1306 9 101788236 101788236 108 NBL diagnosis snv TBC1D13 missense E37G NM_018201 30-PATEPF TBC1D13 MISSENSE SNP Somatic PFAM:PF00566:TBC -10 0.058 SQHIGH 4 11 15 0 24 24 A A G A A TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 54662 9 131553026 131553026 18 NBL diagnosis snv TMEM26 silent L153L NM_178505 30-PATEPF TMEM26 SYNONYMOUS SNP Somatic PFAM:PF09772:Tmem26 14 0.601 SQHIGH 13 15 28 0 20 20 C C G C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 219623 10 63188830 63188830 37 NBL diagnosis snv ADRA2A nonsense *466W NM_000681 30-PATEPF ADRA2A NONSTOP SNP Somatic -10 0.058 SQHIGH 6 31 37 0 31 31 A A G A A TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 150 10 112839152 112839152 17 NBL diagnosis snv ZDHHC24 missense D278N NM_207340 30-PATEPF ZDHHC24 MISSENSE SNP Somatic 11 0.423 SQHIGH 19 13 32 0 31 31 C C T C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 254359 11 66307023 66307023 72 NBL diagnosis snv ARHGEF17 missense R560S NM_014786 30-PATEPF LOC100287837|ARHGEF17 TSS-UPSTREAM|MISSENSE SNP Somatic 17 0.834 SQHIGH 21 14 35 0 42 42 C C A C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 100287837|9828 11 73021361 73021361 92 NBL diagnosis snv PPFIBP1 silent D7D NM_003622 30-PATEPF PPFIBP1 SYNONYMOUS,INTRON SNP Somatic 14 0.601 SQHIGH 12 17 29 0 33 33 Cosmic_Gene C C T C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 8496 12 27786350 27786350 46 NBL diagnosis snv PRKAG1 missense E274G NM_002733 30-PATEPF DDN|PRKAG1|LOC100652964 TSS-UPSTREAM|MISSENSE|INTRON SNP Somatic -6 0.080 SQHIGH 10 66 76 3 83 86 Cosmic_Gene T T C T T TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 23109|5571|100652964 12 49396994 49396994 16 NBL diagnosis snv UHRF1BP1L missense P416L NM_015054 30-PATEPF UHRF1BP1L MISSENSE SNP Somatic 6 0.256 SQHIGH 9 16 25 0 25 25 Cosmic_Gene G G A G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 23074 12 100478295 100478295 31 NBL diagnosis snv PLA2G4D silent G419G NM_178034 30-PATEPF PLA2G4D SYNONYMOUS SNP Somatic 16 0.739 SQHIGH 17 14 31 0 28 28 Cosmic_Gene G G A G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 283748 15 42371795 42371795 60 NBL diagnosis snv CHRNB4 silent T131T NM_000750 30-PATEPF CHRNB4 SYNONYMOUS SNP Somatic PFAM:PF02931:Neur_chan_LBD 12 0.473 SQHIGH 25 20 45 0 38 38 G G C G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 1143 15 78922254 78922254 85 NBL diagnosis snv CCP110 missense L774P NM_014711 30-PATEPF CCP110 MISSENSE SNP Somatic -10 0.058 SQHIGH 6 14 20 1 28 29 T T C T T TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 9738 16 19554036 19554036 19 NBL diagnosis snv CD19 missense C38Y NM_001770 30-PATEPF CD19 MISSENSE SNP Somatic 14 0.601 SQHIGH 15 23 38 0 51 51 Cosmic_Gene G G A G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 930 16 28943691 28943691 64 NBL diagnosis snv ANKRD11 silent L2606L NM_013275 30-PATEPF ANKRD11 SYNONYMOUS SNP Somatic 11 0.423 SQHIGH 15 12 27 0 27 27 Cosmic_Gene G G A G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 29123 16 89335060 89335060 57 NBL diagnosis snv AOC2 missense R246W NM_001158 30-PATEPF AOC2 MISSENSE SNP Somatic PFAM:PF02728:Cu_amine_oxidN3 -7 0.073 SQHIGH 14 46 60 0 44 44 Cosmic_Gene A A T A A TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 314 17 40997379 40997379 37 NBL diagnosis snv RAX missense R329L NM_013435 30-PATEPF RAX MISSENSE SNP Somatic PFAM:PF03826:OAR -3 0.102 SQHIGH 10 9 19 0 9 9 Cosmic_Gene C C A C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 30062 18 56936291 56936291 22 NBL diagnosis snv MUC16 nonsense S8277* NM_024690 30-PATEPF MUC16 NONSENSE SNP Somatic -10 0.058 SQHIGH 9 37 46 0 44 44 Cosmic_Gene G G T G G TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 94025 19 9062616 9062616 28 NBL diagnosis snv CDKN2D missense V92F NM_001800 30-PATEPF KRI1|CDKN2D TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF12796:Ank_2 17 0.834 SQHIGH 17 18 35 0 34 34 Cosmic_Gene C C A C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 65095|1032 19 10677961 10677961 61 NBL diagnosis snv NEURL2 missense R240L NM_080749 30-PATEPF CTSA|C20orf165|NEURL2 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE SNP Somatic 3 0.183 SQHIGH 23 14 37 0 46 46 Cosmic_Gene C C A C C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 5476|128497|140825 20 44518912 44518912 105 NBL diagnosis snv SMC1A missense V1186L NM_006306 30-PATEPF SMC1A MISSENSE SNP Somatic PFAM:PF02463:SMC_N 20 0.992 SQHIGH 32 0 32 0 34 34 Cosmic_Gene C G C TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 8243 X 53407603 53407603 188 NBL diagnosis mnv OR4K5 missense R292K NM_001005483 30-PATEPF OR4K5 MISSENSE Sub Somatic -3 0.460 SQHIGH 11 11 22 0 22 22 Cosmic_Gene GG GG AA GG GG TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 79317 14 20389640 20389641 40 NBL diagnosis mnv FN3KRP missense V231S NM_024619 30-PATEPF FN3KRP MISSENSE Sub Somatic PFAM:PF03109:ABC1 -9 0.292 SQHIGH 39 46 85 0 50 50 GT GT TC GT GT TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 79672 17 80684808 80684809 97 NBL diagnosis snv FCRL3 missense Q223H NM_052939 30-PATESI FCRL3 MISSENSE SNP Somatic 15 0.706 SQHIGH 19 22 41 0 62 62 Cosmic_Gene C C A C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 115352 1 157667105 157667105 90 NBL diagnosis snv SUCO missense T688K NM_014283 30-PATESI SUCO MISSENSE SNP Somatic 0 0.151 SQHIGH 7 28 35 0 32 32 Cosmic_Gene C C A C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 51430 1 172558304 172558304 21 NBL diagnosis snv USP34 missense A318P NM_014709 30-PATESI USP34 MISSENSE SNP Somatic 5 0.241 SQHIGH 19 34 53 0 44 44 Cosmic_Gene C C G C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 9736 2 61607366 61607366 58 NBL diagnosis snv PLXNA1 missense L1199H NM_032242 30-PATESI PLXNA1 MISSENSE SNP Somatic 3 0.200 SQHIGH 6 19 25 1 35 36 Cosmic_Gene T T A T T TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 5361 3 126736671 126736671 18 NBL diagnosis snv DCHS2 missense F1938V NM_017639 30-PATESI DCHS2 MISSENSE SNP Somatic -4 0.104 SQHIGH 9 34 43 0 47 47 Cosmic_Gene A A C A A TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 54798 4 155161871 155161871 31 NBL diagnosis snv TCOF1 missense K1171E NM_000356 30-PATESI TCOF1 MISSENSE SNP Somatic -4 0.104 SQHIGH 5 24 29 0 40 40 Cosmic_Gene A A G A A TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 6949 5 149773076 149773076 20 NBL diagnosis snv ZNF318 nonsense G249* NM_014345 30-PATESI ZNF318 NONSENSE SNP Somatic 15 0.706 SQHIGH 29 25 54 2 61 63 Cosmic_Gene C C A C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 24149 6 43325307 43325307 98 NBL diagnosis snv SMARCD3 silent D223D NM_001003802 30-PATESI SMARCD3 SYNONYMOUS SNP Somatic 6 0.270 SQHIGH 11 21 32 0 35 35 Cosmic_Gene G G A G G TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 6604 7 150939032 150939032 40 NBL diagnosis snv CFAP46 silent S1498S NM_001200049 30-PATESI CFAP46 SYNONYMOUS SNP Somatic 16 0.778 SQHIGH 16 19 35 0 26 26 C C T C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 100506209 10 134686197 134686197 47 NBL diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 30-PATESI KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 7 0.297 SQHIGH 9 12 21 0 21 21 Cosmic_Gene C C A C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 3784|10984 11 2670307 2670307 32 NBL diagnosis snv CX3CL1 silent F103F NM_002996 30-PATESI CX3CL1 SYNONYMOUS SNP Somatic 0 0.151 SQHIGH 17 20 37 0 28 28 C C T C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 6376 16 57416059 57416059 51 NBL diagnosis snv FXR2 missense R123L NM_004860 30-PATESI FXR2 MISSENSE SNP Somatic 14 0.637 SQHIGH 14 2 16 1 43 44 C A A C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 9513 17 7507156 7507156 100 NBL diagnosis snv FARSA splice G242_E6splice NM_004461 30-PATESI FARSA DISRUPT SNP Somatic 13 0.565 SQHIGH 15 17 32 0 36 36 Cosmic_Gene C C A C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 2193 19 13039348 13039348 59 NBL diagnosis snv KIF16B silent L1326L NM_001199866 30-PATESI KIF16B SYNONYMOUS,INTRON SNP Somatic 8 0.329 SQHIGH 17 15 32 0 40 40 Cosmic_Gene G G A G G TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 55614 20 16347994 16347994 74 NBL diagnosis mnv UNC80 missense G2456L NM_032504 30-PATESI UNC80 MISSENSE Sub Somatic 2 0.771 SQHIGH 15 13 28 0 29 29 GG GG TT GG GG TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 285175 2 210823856 210823857 58 NBL diagnosis mnv NEMF missense V675_Q676>VK NM_004713 30-PATESI NEMF MISSENSE Sub Somatic -9 0.303 SQHIGH 3 15 18 0 31 31 GT GT TC GT GT TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 9147 14 50269240 50269241 14 NBL diagnosis snv SLC9A1 silent R458R NM_003047 30-PATFCY SLC9A1 SYNONYMOUS SNP Somatic -7 0.084 SQHIGH 13 32 45 2 41 43 Cosmic_Gene T T C T T TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 6548 1 27432487 27432487 26 NBL diagnosis snv ALK missense L1240V NM_004304 30-PATFCY ALK MISSENSE SNP Somatic 10 0.419 SQHIGH 34 22 56 0 49 49 Cosmic_Gene A A C A A TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 238 2 29436875 29436875 123 NBL diagnosis snv DMP1 missense D101V NM_004407 30-PATFCY DMP1 MISSENSE SNP Somatic PFAM:PF07263:DMP1 6 0.286 SQHIGH 14 43 57 0 62 62 Cosmic_Gene A A T A A TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 1758 4 88583232 88583232 49 NBL diagnosis snv PDE8B missense A442V NM_003719 30-PATFCY PDE8B MISSENSE SNP Somatic 2 0.190 SQHIGH 8 28 36 1 41 42 C C T C C TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 8622 5 76703242 76703242 21 NBL diagnosis snv FAM170A missense E144D NM_182761 30-PATFCY FAM170A MISSENSE SNP Somatic -10 0.066 SQHIGH 9 43 52 0 46 46 Cosmic_Gene G G T G G TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 340069 5 118969875 118969875 26 NBL diagnosis snv ZNF277 nonsense Q277* NM_021994 30-PATFCY ZNF277 NONSENSE SNP Somatic 8 0.346 SQHIGH 12 34 46 0 36 36 Cosmic_Gene C C T C C TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 11179 7 111976186 111976186 33 NBL diagnosis snv FZD3 silent I268I NM_017412 30-PATFCY FZD3 SYNONYMOUS SNP Somatic PFAM:PF01534:Frizzled 2 0.190 SQHIGH 13 43 56 0 44 44 Cosmic_Gene C C A C C TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 7976 8 28385081 28385081 36 NBL diagnosis snv SLC22A10 nonsense E517* NM_001039752 30-PATFCY SLC22A10 NONSENSE SNP Somatic 4 0.230 SQHIGH 14 26 40 0 41 41 Cosmic_Gene G G T G G TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 387775 11 63072312 63072312 49 NBL diagnosis snv DSCAML1 missense R515C NM_020693 30-PATFCY DSCAML1 MISSENSE SNP Somatic PFAM:PF00047:ig 3 0.209 SQHIGH 7 12 19 0 36 36 Cosmic_Gene G G A G G TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 57453 11 117389328 117389328 36 NBL diagnosis snv OR1A2 missense S216T NM_012352 30-PATFCY OR1A2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.252 SQHIGH 17 53 70 0 42 42 Cosmic_Gene T T A T T TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 26189 17 3101458 3101458 38 NBL diagnosis snv USP6 missense S770A NM_004505 30-PATFCY USP6 MISSENSE SNP Somatic -7 0.084 SQHIGH 5 37 42 0 30 30 Cosmic_Gene T T G T T TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 9098 17 5049458 5049458 12 NBL diagnosis snv IMPA2 missense G105S NM_014214 30-PATFCY IMPA2 MISSENSE SNP Somatic 2 0.190 SQHIGH 8 17 25 0 22 22 Cosmic_Gene G G A G G TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 3613 18 12009964 12009964 25 NBL diagnosis snv PTPRH missense E843D NM_002842 30-PATFCY PTPRH MISSENSE SNP Somatic 11 0.463 SQHIGH 9 18 27 0 29 29 Cosmic_Gene C C A C C TARGET-30-PATFCY-01A-01D TARGET-30-PATFCY-10A-01D 5794 19 55698918 55698918 32 NBL diagnosis snv SRRM1 silent P730P NM_005839 30-PATFXV SRRM1 SYNONYMOUS SNP Somatic -10 0.057 SQHIGH 5 24 29 1 46 47 Cosmic_Gene T T C T T TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 10250 1 24996064 24996064 16 NBL diagnosis snv OSCP1 splice_region V38_E1splice_region NM_145047 30-PATFXV OSCP1 DONOR SNP Somatic -8 0.066 SQHIGH 5 6 11 1 27 28 Cosmic_Gene T T C T T TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 127700 1 36915853 36915853 24 NBL diagnosis snv OVGP1 nonsense K573* NM_002557 30-PATFXV OVGP1 NONSENSE SNP Somatic 6 0.232 SQHIGH 22 36 58 0 64 64 Cosmic_Gene T T A T T TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 5016 1 111957406 111957406 82 NBL diagnosis snv SELE missense R212G NM_000450 30-PATFXV SELE MISSENSE SNP Somatic -3 0.099 SQHIGH 8 27 35 0 39 39 Cosmic_Gene T T C T T TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 6401 1 169699654 169699654 28 NBL diagnosis snv ALK missense F1174L NM_004304 30-PATFXV ALK MISSENSE SNP Somatic 14 0.577 SQHIGH 21 22 43 0 51 51 COSMIC:mut:28055 Cosmic_Gene G G T G G TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 238 2 29443695 29443695 87 NBL diagnosis snv CIDEC missense L234M NM_022094 30-PATFXV CIDEC MISSENSE SNP Somatic 16 0.717 SQHIGH 23 23 46 0 59 59 Cosmic_Gene G G T G G TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 63924 3 9908835 9908835 100 NBL diagnosis snv DOCK3 missense L409F NM_004947 30-PATFXV DOCK3 MISSENSE SNP Somatic 20 1.000 SQHIGH 19 20 39 0 36 36 G G T G G TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 1795 3 51251653 51251653 66 NBL diagnosis snv UIMC1 missense Q702H NM_016290 30-PATFXV UIMC1 MISSENSE SNP Somatic 11 0.393 SQHIGH 15 24 39 0 28 28 Cosmic_Gene C C A C C TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 51720 5 176332337 176332337 41 NBL diagnosis snv STRA8 silent A201A NM_182489 30-PATFXV STRA8 SYNONYMOUS SNP Somatic 4 0.189 SQHIGH 7 14 21 0 21 21 G G A G G TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 346673 7 134931325 134931325 24 NBL diagnosis snv MYBL1 missense K449N NM_001080416 30-PATFXV MYBL1 MISSENSE SNP Somatic 18 0.877 SQHIGH 15 15 30 0 27 27 Cosmic_Gene C C A C C TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 4603 8 67488365 67488365 52 NBL diagnosis snv FAM135B missense R701G NM_015912 30-PATFXV FAM135B MISSENSE SNP Somatic 14 0.577 SQHIGH 16 18 34 0 39 39 Cosmic_Gene G G C G G TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 51059 8 139164617 139164617 64 NBL diagnosis snv GPR158 missense P468T NM_020752 30-PATFXV GPR158 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 7 0.257 SQHIGH 15 18 33 0 32 32 Cosmic_Gene C C A C C TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 57512 10 25755646 25755646 53 NBL diagnosis snv IFIT1B missense R133S NM_001010987 30-PATFXV IFIT1B MISSENSE SNP Somatic PFAM:PF00515:TPR_1 14 0.577 SQHIGH 20 28 48 1 58 59 C C A C C TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 439996 10 91143467 91143467 70 NBL diagnosis snv B4GALNT4 missense A752V NM_178537 30-PATFXV B4GALNT4 MISSENSE SNP Somatic 9 0.315 SQHIGH 11 8 19 1 22 23 Cosmic_Gene C C T C C TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 338707 11 379468 379468 38 NBL diagnosis snv GALNT4 missense P62Q NM_003774 30-PATFXV POC1B-GALNT4|POC1B|GALNT4 INTRON,MISSENSE|INTRON|MISSENSE SNP Somatic 10 0.352 SQHIGH 20 22 42 1 47 48 Cosmic_Gene G G T G G TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 100528030|282809|8693 12 89918142 89918142 68 NBL diagnosis snv OR4N4 missense M270R NM_001005241 30-PATFXV OR4N4 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.257 SQHIGH 21 32 53 2 58 60 Cosmic_Gene T T G T T TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 283694 15 22383281 22383281 60 NBL diagnosis snv PIK3R5 missense S430R NM_001142633 30-PATFXV PIK3R5 MISSENSE SNP Somatic PFAM:PF10486:PI3K_1B_p101 10 0.352 SQHIGH 25 20 45 0 39 39 Cosmic_Gene G G T G G TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 23533 17 8791814 8791814 87 NBL diagnosis snv SMG8 silent G562G NM_018149 30-PATFXV SMG8 SYNONYMOUS SNP Somatic PFAM:PF10220:DUF2146 6 0.232 SQHIGH 11 24 35 0 34 34 Cosmic_Gene C C T C C TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 55181 17 57289098 57289098 36 NBL diagnosis snv ACSBG2 silent P526P NM_030924 30-PATFXV ACSBG2 SYNONYMOUS SNP Somatic 11 0.393 SQHIGH 8 27 35 0 40 40 Cosmic_Gene C C A C C TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 81616 19 6187331 6187331 29 NBL diagnosis snv CACNA1F missense G1472W NM_005183 30-PATFXV CACNA1F MISSENSE SNP Somatic 11 0.393 SQHIGH 17 23 40 0 58 58 Cosmic_Gene C C A C C TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 778 X 49067432 49067432 77 NBL diagnosis snv MAGEE1 silent P381P NM_020932 30-PATFXV MAGEE1 SYNONYMOUS SNP Somatic -2 0.109 SQHIGH 12 17 29 1 37 38 Cosmic_Gene G G T G G TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 57692 X 75649466 75649466 41 NBL diagnosis snv GPR112 missense R1086L NM_153834 30-PATFXV GPR112 MISSENSE SNP Somatic PFAM:PF05955:Herpes_gp2 6 0.232 SQHIGH 20 34 54 0 49 49 Cosmic_Gene G G T G G TARGET-30-PATFXV-01A-01D TARGET-30-PATFXV-10A-01D 139378 X 135429122 135429122 65 NBL diagnosis snv NBEAL1 missense S1766T NM_001114132 30-PATGJU NBEAL1 MISSENSE SNP Somatic -1 0.129 SQHIGH 4 24 28 0 44 44 Cosmic_Gene G G C G G TARGET-30-PATGJU-01A-01D TARGET-30-PATGJU-10A-01D 65065 2 204013793 204013793 17 NBL diagnosis snv SNRPN silent G117G NM_003097 30-PATGJU SNURF|SNRPN UTR3|SYNONYMOUS SNP Somatic -4 0.096 SQHIGH 3 3 6 0 14 14 Cosmic_Gene T T A T T TARGET-30-PATGJU-01A-01D TARGET-30-PATGJU-10A-01D 8926|6638 15 25222107 25222107 18 NBL diagnosis snv SNRPN silent V118V NM_003097 30-PATGJU SNURF|SNRPN UTR3|SYNONYMOUS SNP Somatic -6 0.080 SQHIGH 3 5 8 0 14 14 Cosmic_Gene G G A G G TARGET-30-PATGJU-01A-01D TARGET-30-PATGJU-10A-01D 8926|6638 15 25222110 25222110 14 NBL diagnosis snv RAI2 missense Q254P NM_021785 30-PATGJU RAI2 MISSENSE,UTR SNP Somatic -10 0.056 SQHIGH 4 13 18 0 31 31 Cosmic_Gene T T G T T TARGET-30-PATGJU-01A-01D TARGET-30-PATGJU-10A-01D 10742 X 17819370 17819370 19 NBL diagnosis snv SLC44A5 missense D144E NM_152697 30-PATGLU SLC44A5 MISSENSE SNP Somatic -4 0.092 SQHIGH 6 17 23 0 31 31 Cosmic_Gene G G C G G TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 204962 1 75708610 75708610 24 NBL diagnosis snv RASSF5 missense Q26K NM_182663 30-PATGLU RASSF5 MISSENSE SNP Somatic -2 0.110 SQHIGH 7 21 28 0 28 28 Cosmic_Gene C C A C C TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 83593 1 206681011 206681011 23 NBL diagnosis snv CD34 missense G6D NM_001025109 30-PATGLU CD34 MISSENSE SNP Somatic 0 0.132 SQHIGH 7 16 23 0 28 28 Cosmic_Gene C C T C C TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 947 1 208084409 208084409 27 NBL diagnosis snv NLRP3 missense C669F NM_004895 30-PATGLU NLRP3 MISSENSE SNP Somatic 4 0.191 SQHIGH 14 52 66 0 54 54 Cosmic_Gene G G T G G TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 114548 1 247588751 247588751 39 NBL diagnosis snv ITSN2 splice_region E1040_E25splice_region NM_006277 30-PATGLU ITSN2 DONOR SNP Somatic 7 0.264 SQHIGH 15 52 67 0 37 37 Cosmic_Gene A A C A A TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 50618 2 24475208 24475208 31 NBL diagnosis snv IGSF10 missense G2601V NM_178822 30-PATGLU IGSF10 MISSENSE SNP Somatic 7 0.264 SQHIGH 14 32 46 0 34 34 Cosmic_Gene C C A C C TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 285313 3 151154547 151154547 38 NBL diagnosis snv TBC1D22B missense L281F NM_017772 30-PATGLU TBC1D22B MISSENSE SNP Somatic PFAM:PF00566:TBC 6 0.238 SQHIGH 14 37 51 0 57 57 G G T G G TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 55633 6 37254824 37254824 50 NBL diagnosis snv HCRTR2 missense A359V NM_001526 30-PATGLU HCRTR2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 9 0.323 SQHIGH 11 19 30 1 20 21 Cosmic_Gene C C T C C TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 3062 6 55145213 55145213 21 NBL diagnosis snv TUBE1 silent H427H NM_016262 30-PATGLU TUBE1 SYNONYMOUS SNP Somatic 19 0.953 SQHIGH 15 12 27 1 38 39 Cosmic_Gene A A G A A TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 51175 6 112392762 112392762 61 NBL diagnosis snv ELOVL3 missense G228E NM_152310 30-PATGLU ELOVL3 MISSENSE SNP dbsnp.134:rs140986921 Somatic PFAM:PF01151:ELO 6 0.238 SQHIGH 15 38 53 0 57 57 Cosmic_Gene G G A G G TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 83401 10 103988879 103988879 53 NBL diagnosis snv KRT4 silent Y315Y NM_002272 30-PATGLU KRT4 SYNONYMOUS SNP Somatic PFAM:PF00038:Filament -4 0.092 SQHIGH 8 36 44 0 37 37 Cosmic_Gene G G A G G TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 3851 12 53202524 53202524 23 NBL diagnosis snv COQ6 silent V232V NM_182476 30-PATGLU COQ6 SYNONYMOUS SNP Somatic PFAM:PF00670:AdoHcyase_NAD -9 0.063 SQHIGH 4 16 20 0 25 25 T T G T T TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 51004 14 74425757 74425757 15 NBL diagnosis snv AHNAK2 missense V3363L NM_138420 30-PATGLU AHNAK2 MISSENSE SNP Somatic -6 0.079 SQHIGH 15 12 27 0 43 43 Cosmic_Gene C C A C C TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 113146 14 105411701 105411701 76 NBL diagnosis snv CPEB1 silent G228G NM_030594 30-PATGLU CPEB1 SYNONYMOUS SNP Somatic 14 0.582 SQHIGH 13 26 39 0 37 37 Cosmic_Gene C C A C C TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 64506 15 83224795 83224795 43 NBL diagnosis snv ITFG1 silent P253P NM_030790 30-PATGLU ITFG1 SYNONYMOUS SNP Somatic -7 0.073 SQHIGH 6 22 28 0 21 21 Cosmic_Gene A A G A A TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 81533 16 47399742 47399742 16 NBL diagnosis snv CENPN missense A317T NM_001100624 30-PATGLU CENPN INTRON,MISSENSE SNP Somatic PFAM:PF05238:CHL4 -5 0.085 SQHIGH 5 31 36 0 35 35 G G A G G TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 55839 16 81062185 81062185 15 NBL diagnosis snv LOC339059 EXON E2_exon NM_001142864 30-PATGLU FLJ40448|PIEZO1 UTR|INTRON SNP Somatic 1 0.144 SQHIGH 14 16 30 0 14 14 G G T G G TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 339059|9780 16 88809427 88809427 29 NBL diagnosis snv PCYT2 missense G308S NM_002861 30-PATGLU PCYT2 MISSENSE,UTR SNP Somatic 6 0.238 SQHIGH 22 82 104 0 51 51 C C T C C TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 5833 17 79863305 79863305 42 NBL diagnosis snv RAX2 missense R70C NM_032753 30-PATGLU RAX2 MISSENSE SNP Somatic 2 0.158 SQHIGH 17 13 30 1 39 40 G G A G G TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 84839 19 3771533 3771533 67 NBL diagnosis snv DEPDC5 missense E1264G NM_014662 30-PATGLU DEPDC5 MISSENSE SNP Somatic -8 0.068 SQHIGH 5 23 28 1 45 46 Cosmic_Gene A A G A A TARGET-30-PATGLU-01A-01D TARGET-30-PATGLU-10A-01D 9681 22 32275589 32275589 16 NBL diagnosis snv TTC7A splice Q547H NM_020458 30-PATGWT TTC7A MISSENSE SNP Somatic 11 0.319 SQHIGH 29 27 56 0 37 37 Cosmic_Gene G G T G G TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 57217 2 47251498 47251498 81 NBL diagnosis snv LRP2 silent P2516P NM_004525 30-PATGWT LRP2 SYNONYMOUS SNP Somatic PFAM:PF00058:Ldl_recept_b 11 0.319 SQHIGH 29 17 46 0 63 63 Cosmic_Gene G G T G G TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 4036 2 170062541 170062541 141 NBL diagnosis snv DOK7 missense R213P NM_173660 30-PATGWT DOK7 SYNONYMOUS,MISSENSE SNP Somatic 10 0.277 SQHIGH 10 24 34 0 41 41 Cosmic_Gene G G C G G TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 285489 4 3487371 3487371 38 NBL diagnosis snv HSPA4 splice P36_E2splice NM_002154 30-PATGWT HSPA4 DISRUPT SNP Somatic 14 0.512 SQHIGH 32 30 62 0 48 48 Cosmic_Gene G G T G G TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 3308 5 132400671 132400671 101 NBL diagnosis snv ATP10B missense L727M NM_025153 30-PATGWT ATP10B MISSENSE SNP Somatic 17 0.852 SQHIGH 26 19 45 0 56 56 Cosmic_Gene G G T G G TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 23120 5 160047591 160047591 116 NBL diagnosis snv MGAT1 missense Q367K NM_001114618 30-PATGWT MGAT1 MISSENSE SNP Somatic 8 0.215 SQHIGH 17 31 48 0 49 49 Cosmic_Gene G G T G G TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 4245 5 180218873 180218873 59 NBL diagnosis snv NEDD9 missense R321L NM_006403 30-PATGWT NEDD9 MISSENSE SNP Somatic 16 0.717 SQHIGH 19 13 32 0 46 46 C C A C C TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 4739 6 11191140 11191140 93 NBL diagnosis snv LRRC19 nonsense S233* NM_022901 30-PATGWT LRRC19|IFT74 NONSENSE|INTRON SNP Somatic 1 0.099 SQHIGH 18 14 32 0 30 30 Cosmic_Gene G G T G G TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 64922|80173 9 26996395 26996395 66 NBL diagnosis snv CHMP5 missense M1V NM_016410 30-PATGWT CHMP5|BAG1 MISSTART|TSS-UPSTREAM SNP Somatic PFAM:PF03357:Snf7 16 0.717 SQHIGH 21 26 47 0 38 38 Cosmic_Gene A A G A A TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 51510|573 9 33265077 33265077 65 NBL diagnosis snv PICALM missense G367W NM_007166 30-PATGWT PICALM MISSENSE SNP Somatic 9 0.244 SQHIGH 8 8 16 0 22 22 Cosmic_Gene C C A C C TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 8301 11 85711741 85711741 36 NBL diagnosis snv CD163 missense A104D NM_004244 30-PATGWT CD163 MISSENSE SNP Somatic PFAM:PF00530:SRCR 2 0.110 SQHIGH 14 21 35 1 45 46 Cosmic_Gene G G T G G TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 9332 12 7653881 7653881 49 NBL diagnosis snv BAZ2A missense A1773S NM_013449 30-PATGWT BAZ2A MISSENSE SNP Somatic -5 0.056 SQHIGH 4 18 22 0 26 26 C C A C C TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 11176 12 56993004 56993004 14 NBL diagnosis snv PTPN11 missense D61Y NM_002834 30-PATGWT PTPN11 MISSENSE SNP Somatic 4 0.133 SQHIGH 17 16 33 0 35 35 COSMIC:mut:13011 Cosmic_Gene G G T G G TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 5781 12 112888165 112888165 66 NBL diagnosis snv PIK3R5 missense R722L NM_001142633 30-PATGWT PIK3R5 MISSENSE SNP Somatic PFAM:PF10486:PI3K_1B_p101 12 0.370 SQHIGH 29 39 68 1 78 79 Cosmic_Gene C C A C C TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 23533 17 8788064 8788064 102 NBL diagnosis snv PIGS missense D206Y NM_033198 30-PATGWT PIGS MISSENSE SNP Somatic PFAM:PF10510:PIG-S -10 0.037 SQHIGH 5 24 29 0 21 21 Cosmic_Gene C C A C C TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 94005 17 26888500 26888500 13 NBL diagnosis snv SPINT3 missense Q46H NM_006652 30-PATGWT SPINT3 MISSENSE SNP Somatic 10 0.277 SQHIGH 35 36 71 0 35 35 T T G T T TARGET-30-PATGWT-01A-01D TARGET-30-PATGWT-10A-01D 10816 20 44141423 44141423 78 NBL diagnosis snv CSMD2 silent V3480V NM_052896 30-PATHKB CSMD2 SYNONYMOUS SNP Somatic -9 0.066 SQHIGH 4 27 31 0 35 35 Cosmic_Gene G G A G G TARGET-30-PATHKB-01A-01D TARGET-30-PATHKB-10A-01D 114784 1 33985142 33985142 14 NBL diagnosis snv CSMD2 missense T3479K NM_052896 30-PATHKB CSMD2 MISSENSE SNP Somatic -9 0.066 SQHIGH 4 27 31 0 38 38 Cosmic_Gene G G T G G TARGET-30-PATHKB-01A-01D TARGET-30-PATHKB-10A-01D 114784 1 33985146 33985146 14 NBL diagnosis snv LOC102723701 EXON E1_exon NM_007175 30-PATHKB ERLIN2 UTR5,TSS-UPSTREAM SNP Somatic -5 0.094 SQHIGH 5 20 25 0 28 28 G G C G G TARGET-30-PATHKB-01A-01D TARGET-30-PATHKB-10A-01D 11160 8 37594128 37594128 17 NBL diagnosis mnv C1orf216 missense R214_C215>RS NM_152374 30-PATHKB C1orf216 MISSENSE Sub Somatic -4 0.422 SQHIGH 3 8 11 0 29 29 Cosmic_Gene AG AG TT AG AG TARGET-30-PATHKB-01A-01D TARGET-30-PATHKB-10A-01D 127703 1 36181280 36181281 18 NBL diagnosis snv LIX1L missense R114H NM_153713 30-PATHVK LIX1L MISSENSE SNP dbsnp.134:rs142637090 Somatic 8 0.345 SQHIGH 12 33 45 0 35 35 Cosmic_Gene G G A G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 128077 1 145487352 145487352 33 NBL diagnosis snv CRNN missense Q176H NM_016190 30-PATHVK CRNN MISSENSE SNP Somatic 13 0.551 SQHIGH 18 25 43 0 40 40 Cosmic_Gene C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 49860 1 152383030 152383030 61 NBL diagnosis snv SCAMP3 missense I252T NM_005698 30-PATHVK SCAMP3|FAM189B MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF04144:SCAMP 11 0.451 SQHIGH 13 28 41 0 46 46 Cosmic_Gene A A G A A TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 10067|10712 1 155227100 155227100 48 NBL diagnosis snv ATF3 missense K102R NM_001674 30-PATHVK ATF3 INTRON,MISSENSE SNP Somatic 12 0.499 SQHIGH 11 28 39 2 47 49 A A G A A TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 467 1 212791533 212791533 27 NBL diagnosis snv COG2 missense Q632P NM_007357 30-PATHVK COG2 MISSENSE SNP Somatic PFAM:PF12022:DUF3510 14 0.623 SQHIGH 12 19 31 0 24 24 A A C A A TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 22796 1 230825860 230825860 35 NBL diagnosis snv ARV1 missense T22N NM_022786 30-PATHVK TTC13|ARV1 TSS-UPSTREAM|MISSENSE SNP Somatic -10 0.083 SQHIGH 4 5 9 0 14 14 Cosmic_Gene C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 79573|64801 1 231114916 231114916 18 NBL diagnosis snv MIR4780 EXON E1_exon NM_198274 30-PATHVK MIR4780|SMYD1 UTR|INTRON SNP Somatic 7 0.318 SQHIGH 12 30 42 0 51 51 Cosmic_Gene G G C G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 100616447|150572 2 88382095 88382095 46 NBL diagnosis snv IL18RAP missense H55R NM_003853 30-PATHVK IL18RAP MISSENSE SNP Somatic 3 0.211 SQHIGH 23 32 55 0 32 32 Cosmic_Gene A A G A A TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 8807 2 103040364 103040364 55 NBL diagnosis snv SLC9A2 missense C192F NM_003048 30-PATHVK SLC9A2 MISSENSE SNP Somatic 6 0.280 SQHIGH 21 40 61 0 59 59 Cosmic_Gene G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 6549 2 103274308 103274308 71 NBL diagnosis snv TTN nonsense E26182* NM_133378 30-PATHVK TTN|LOC100506866 NONSENSE|INTRON SNP Somatic 7 0.318 SQHIGH 20 47 67 0 67 67 Cosmic_Gene C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 7273|100506866 2 179424611 179424611 67 NBL diagnosis snv TTN missense R19071Q NM_133378 30-PATHVK TTN|LOC100506866 MISSENSE|INTRON,UTR SNP Somatic 8 0.345 SQHIGH 23 34 57 2 56 58 Cosmic_Gene C C T C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 7273|100506866 2 179449452 179449452 61 NBL diagnosis snv TTN silent P10765P NM_133378 30-PATHVK TTN SYNONYMOUS,INTRON SNP Somatic 0 0.166 SQHIGH 11 19 30 0 28 28 Cosmic_Gene G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 7273 2 179515998 179515998 36 NBL diagnosis snv ANKMY1 missense K614N NM_016552 30-PATHVK ANKMY1 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 7 0.318 SQHIGH 17 36 53 1 48 49 Cosmic_Gene C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 51281 2 241452255 241452255 44 NBL diagnosis snv ACAA1 missense Q199K NM_001607 30-PATHVK ACAA1 MISSENSE,UTR SNP Somatic 16 0.751 SQHIGH 20 15 35 0 54 54 Cosmic_Gene G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 30 3 38169308 38169308 101 NBL diagnosis snv CCDC71 missense S152N NM_022903 30-PATHVK CCDC71 MISSENSE SNP Somatic 13 0.551 SQHIGH 15 15 30 0 30 30 Cosmic_Gene C C T C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 64925 3 49201187 49201187 55 NBL diagnosis snv KIAA1407 missense H520Q NM_020817 30-PATHVK KIAA1407 MISSENSE SNP Somatic 11 0.451 SQHIGH 14 18 32 0 41 41 Cosmic_Gene G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 57577 3 113724663 113724663 59 NBL diagnosis snv ZIC1 missense D32V NM_003412 30-PATHVK ZIC4|ZIC1 TSS-UPSTREAM|MISSENSE SNP Somatic 6 0.280 SQHIGH 8 9 17 0 23 23 Cosmic_Gene A A T A A TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 84107|7545 3 147127994 147127994 35 NBL diagnosis snv RAPGEF2 nonsense S1108* NM_014247 30-PATHVK RAPGEF2 NONSENSE SNP Somatic -2 0.142 SQHIGH 7 8 15 0 16 16 Cosmic_Gene C C G C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 9693 4 160271382 160271382 26 NBL diagnosis snv GABRB2 missense A444S NM_021911 30-PATHVK GABRB2 MISSENSE SNP Somatic PFAM:PF02932:Neur_chan_memb 8 0.345 SQHIGH 21 32 53 0 41 41 C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 2561 5 160721297 160721297 62 NBL diagnosis snv C6orf62 splice T189_E5splice NM_030939 30-PATHVK C6orf62 ACCEPTOR SNP Somatic -2 0.142 SQHIGH 9 40 49 0 33 33 G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 81688 6 24706493 24706493 22 NBL diagnosis snv MICB missense G108V NM_005931 30-PATHVK MICB MISSENSE SNP Somatic PFAM:PF00129:MHC_I 5 0.252 SQHIGH 16 53 69 0 63 63 G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 4277 6 31473646 31473646 49 NBL diagnosis snv CUL9 missense D1355Y NM_015089 30-PATHVK CUL9 MISSENSE SNP Somatic 8 0.345 SQHIGH 23 62 85 0 39 39 Cosmic_Gene G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 23113 6 43171629 43171629 43 NBL diagnosis snv HSF2 nonsense E90* NM_004506 30-PATHVK HSF2 NONSENSE SNP Somatic PFAM:PF00447:HSF_DNA-bind 4 0.231 SQHIGH 12 14 26 0 26 26 G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 3298 6 122733847 122733847 43 NBL diagnosis snv ABCA13 missense L2069I NM_152701 30-PATHVK ABCA13 MISSENSE SNP Somatic 2 0.194 SQHIGH 8 40 48 0 36 36 Cosmic_Gene C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 154664 7 48315468 48315468 21 NBL diagnosis snv PRSS58 missense W233L NM_001001317 30-PATHVK PRSS58 MISSENSE SNP Somatic 7 0.318 SQHIGH 19 42 61 0 38 38 Cosmic_Gene C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 136541 7 141952069 141952069 46 NBL diagnosis snv POTEA splice_region D408_E11splice_region NM_001002920 30-PATHVK POTEA ACCEPTOR SNP Somatic 13 0.551 SQHIGH 18 18 36 0 37 37 Cosmic_Gene C C T C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 340441 8 43211894 43211894 68 NBL diagnosis snv UBR5 missense A1032G NM_015902 30-PATHVK UBR5 MISSENSE SNP Somatic 4 0.231 SQHIGH 12 38 50 0 42 42 Cosmic_Gene G G C G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 51366 8 103312239 103312239 35 NBL diagnosis snv LRSAM1 splice_region S387_E15splice_region NM_138361 30-PATHVK LRSAM1 DONOR SNP Somatic -8 0.095 SQHIGH 6 19 25 1 29 30 A A G A A TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 90678 9 130245303 130245303 15 NBL diagnosis snv NUP188 silent F762F NM_015354 30-PATHVK NUP188 SYNONYMOUS SNP Somatic PFAM:PF10487:Nup188 0 0.166 SQHIGH 15 23 38 0 47 47 Cosmic_Gene T T C T T TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 23511 9 131749889 131749889 61 NBL diagnosis snv LARP4B silent N232N NM_015155 30-PATHVK LARP4B SYNONYMOUS SNP Somatic -10 0.083 SQHIGH 6 18 24 0 16 16 Cosmic_Gene A A G A A TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 23185 10 882397 882397 15 NBL diagnosis snv ANK3 missense R3860T NM_020987 30-PATHVK ANK3 INTRON,MISSENSE SNP Somatic 7 0.318 SQHIGH 18 34 52 0 66 66 Cosmic_Gene C C G C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 288 10 61829060 61829060 73 NBL diagnosis snv ATHL1 missense D387E NM_025092 30-PATHVK ATHL1 MISSENSE SNP Somatic PFAM:PF03632:Glyco_hydro_65m -5 0.115 SQHIGH 9 31 40 0 41 41 Cosmic_Gene C C G C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 80162 11 292888 292888 30 NBL diagnosis snv LRRC56 silent G83G NM_198075 30-PATHVK LRRC56 SYNONYMOUS SNP Somatic 7 0.318 SQHIGH 17 34 51 0 30 30 Cosmic_Gene C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 115399 11 541608 541608 39 NBL diagnosis snv RAG1 missense L80F NM_000448 30-PATHVK RAG1 MISSENSE SNP Somatic -6 0.109 SQHIGH 8 25 33 0 39 39 Cosmic_Gene G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 5896 11 36595094 36595094 29 NBL diagnosis snv OR5M11 nonsense Y177* NM_001005245 30-PATHVK OR5M11 NONSENSE SNP Somatic PFAM:PF00001:7tm_1 -4 0.123 SQHIGH 7 31 39 0 51 51 G G C G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 219487 11 56310203 56310203 27 NBL diagnosis snv USP5 missense F181V NM_001098536 30-PATHVK USP5 MISSENSE SNP Somatic -3 0.132 SQHIGH 11 52 63 0 50 50 Cosmic_Gene T T G T T TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 8078 12 6965571 6965571 30 NBL diagnosis snv TENC1 missense T860M NM_015319 30-PATHVK TENC1 MISSENSE SNP Somatic -3 0.132 SQHIGH 9 51 60 0 34 34 Cosmic_Gene C C T C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 23371 12 53453974 53453974 19 NBL diagnosis snv USP15 missense C762S NM_006313 30-PATHVK USP15 MISSENSE SNP Somatic 3 0.211 SQHIGH 6 22 28 0 16 16 Cosmic_Gene T T A T T TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 9958 12 62786118 62786118 13 NBL diagnosis snv RNF17 missense A383T NM_031277 30-PATHVK RNF17 MISSENSE SNP Somatic 13 0.551 SQHIGH 12 7 19 0 31 31 Cosmic_Gene G G A G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 56163 13 25367391 25367391 64 NBL diagnosis snv C14orf177 missense A17S NM_182560 30-PATHVK C14orf177 MISSENSE SNP Somatic 20 0.981 SQHIGH 19 15 34 0 57 57 G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 283598 14 99182577 99182577 100 NBL diagnosis snv NPAP1 missense P492S NM_018958 30-PATHVK NPAP1 MISSENSE SNP Somatic 4 0.231 SQHIGH 16 42 58 1 58 59 Cosmic_Gene C C T C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 23742 15 24922488 24922488 44 NBL diagnosis snv PLCB2 splice_region D28_E1splice_region NM_004573 30-PATHVK PLCB2 DONOR SNP Somatic -8 0.095 SQHIGH 6 32 38 0 23 23 Cosmic_Gene T T C T T TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 5330 15 40599786 40599786 13 NBL diagnosis snv NOXO1 missense A306V NM_144603 30-PATHVK GFER|NOXO1 TSS-UPSTREAM|MISSENSE SNP Somatic -3 0.132 SQHIGH 5 7 12 0 25 25 G G A G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 2671|124056 16 2029249 2029249 27 NBL diagnosis snv MYH11 missense K1813M NM_002474 30-PATHVK MYH11|NDE1 MISSENSE|INTRON SNP Somatic PFAM:PF01576:Myosin_tail_1 14 0.623 SQHIGH 11 17 28 0 39 39 Cosmic_Gene T T A T T TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 4629|54820 16 15811063 15811063 48 NBL diagnosis snv ATP2A3 missense R678H NM_005173 30-PATHVK ATP2A3 MISSENSE SNP Somatic PFAM:PF06888:Put_Phosphatase -10 0.083 SQHIGH 7 11 18 0 18 18 Cosmic_Gene C C T C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 489 17 3844332 3844332 24 NBL diagnosis snv MYH2 missense A1840S NM_017534 30-PATHVK MYH1|MYH2 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 13 0.551 SQHIGH 18 24 42 1 51 52 Cosmic_Gene C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 4619|4620 17 10426684 10426684 63 NBL diagnosis snv AOC3 missense V325F NM_003734 30-PATHVK AOC3 MISSENSE SNP Somatic PFAM:PF01179:Cu_amine_oxid 4 0.231 SQHIGH 15 52 67 0 32 32 Cosmic_Gene G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 8639 17 41004333 41004333 28 NBL diagnosis snv NLRP4 missense V731A NM_134444 30-PATHVK NLRP4 MISSENSE SNP Somatic 11 0.451 SQHIGH 28 38 66 0 61 61 Cosmic_Gene T T C T T TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 147945 19 56379080 56379080 95 NBL diagnosis snv ZSCAN5B missense P324Q NM_001080456 30-PATHVK ZSCAN5B MISSENSE SNP Somatic 15 0.689 SQHIGH 15 24 39 0 51 51 Cosmic_Gene G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 342933 19 56701713 56701713 63 NBL diagnosis snv SLC12A5 silent V733V NM_001134771 30-PATHVK SLC12A5 SYNONYMOUS SNP Somatic 10 0.412 SQHIGH 23 29 53 0 59 60 Cosmic_Gene C C A C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 57468 20 44678378 44678378 90 NBL diagnosis snv UMODL1 missense A11G NM_001004416 30-PATHVK UMODL1 INTRON,MISSENSE SNP Somatic 8 0.345 SQHIGH 4 10 14 0 20 20 Cosmic_Gene C C G C C TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 89766 21 43491457 43491457 17 NBL diagnosis snv PFKL missense W239L NM_002626 30-PATHVK PFKL MISSENSE,UTR SNP Somatic 12 0.499 SQHIGH 11 14 25 1 32 33 G G T G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 5211 21 45733873 45733873 38 NBL diagnosis snv PRAME missense F97V NM_006115 30-PATHVK PRAME MISSENSE SNP Somatic 5 0.252 SQHIGH 14 35 49 0 45 45 Cosmic_Gene A A C A A TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 23532 22 22893244 22893244 44 NBL diagnosis snv TRIOBP missense A1226P NM_001039141 30-PATHVK TRIOBP MISSENSE SNP Somatic -1 0.153 SQHIGH 5 23 28 0 38 38 Cosmic_Gene G G C G G TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 11078 22 38122239 38122239 20 NBL diagnosis snv UPF3B splice_region D435_E11splice_region NM_080632 30-PATHVK UPF3B ACCEPTOR SNP Somatic 14 0.623 SQHIGH 17 27 44 0 44 44 Cosmic_Gene A A G A A TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 65109 X 118968998 118968998 60 NBL diagnosis mnv PHLDB1 splice_region Q1218_E19splice_region NM_015157 30-PATHVK PHLDB1 INTRON Sub Somatic -10 0.301 SQHIGH 6 45 51 1 74 75 CAGT CAGT GGTG CAGT CAGT TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 23187 11 118518802 118518805 18 NBL diagnosis snv DNAH6 missense R1147W NM_001370 30-PATNKP DNAH6 MISSENSE SNP Somatic PFAM:PF08393:DHC_N2 1 0.113 SQHIGH 16 44 60 1 51 52 Cosmic_Gene C C T C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 1768 2 84838942 84838942 38 NBL diagnosis snv TMEM131 missense I1127T NM_015348 30-PATNKP TMEM131 MISSENSE SNP Somatic 11 0.394 SQHIGH 13 33 46 0 50 50 Cosmic_Gene A A G A A TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 23505 2 98411399 98411399 46 NBL diagnosis snv GLS missense G337R NM_014905 30-PATNKP GLS MISSENSE SNP Somatic PFAM:PF04960:Glutaminase -10 0.042 SQHIGH 4 23 27 0 33 33 Cosmic_Gene G G A G G TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 2744 2 191775018 191775018 14 NBL diagnosis snv ACY1 missense S239P NM_000666 30-PATNKP ACY1|ABHD14A-ACY1 INTRON,MISSENSE|UTR SNP Somatic PFAM:PF05450:Nicastrin -4 0.068 SQHIGH 5 20 25 1 37 38 Cosmic_Gene T T C T T TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 95|100526760 3 52021332 52021332 15 NBL diagnosis snv LAMP3 silent S377S NM_014398 30-PATNKP LAMP3 SYNONYMOUS SNP dbsnp.134:rs146757863 Somatic PFAM:PF01299:Lamp 9 0.326 SQHIGH 20 12 32 1 47 48 Cosmic_Gene C C T C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 27074 3 182841989 182841989 90 NBL diagnosis snv SLC26A1 missense T268M NM_022042 30-PATNKP SLC26A1|IDUA INTRON,MISSENSE|INTRON SNP Somatic PFAM:PF00916:Sulfate_transp 10 0.356 SQHIGH 22 29 51 0 37 37 Cosmic_Gene G G A G G TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 10861|3425 4 983924 983924 63 NBL diagnosis snv FAT1 silent V203V NM_005245 30-PATNKP FAT1 SYNONYMOUS SNP Somatic 5 0.183 SQHIGH 19 39 58 0 57 57 Cosmic_Gene C C T C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 2195 4 187630373 187630373 64 NBL diagnosis snv EEF1E1-BLOC1S5 EXON E5_exon NM_201280 30-PATNKP MUTED|EEF1E1-MUTED|MUTED-TXNDC5 UTR3|UTR|INTRON SNP Somatic 3 0.143 SQHIGH 11 52 63 0 49 49 T T G T T TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 63915|100526837|100526836 6 8013947 8013947 29 NBL diagnosis snv DST missense R284C NM_001144769 30-PATNKP DST MISSENSE SNP Somatic 5 0.183 SQHIGH 13 38 51 0 37 37 G G A G G TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 100652766 6 56566691 56566691 34 NBL diagnosis snv GAL3ST4 missense T356I NM_024637 30-PATNKP C7orf43|GAL3ST4|MIR4658 TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF03567:Sulfotransfer_2 5 0.183 SQHIGH 12 31 43 0 39 39 Cosmic_Gene G G A G G TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 55262|79690|100616439 7 99757945 99757945 37 NBL diagnosis snv FGFR1 missense N546K NM_023110 30-PATNKP FGFR1 MISSENSE SNP Somatic -7 0.053 SQHIGH 8 17 25 0 20 20 COSMIC:mut:19176 Cosmic_Gene G G T G G TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 2260 8 38274849 38274849 23 NBL diagnosis snv ASPH missense E116Q NM_004318 30-PATNKP ASPH MISSENSE SNP Somatic PFAM:PF05279:Asp-B-Hydro_N 1 0.113 SQHIGH 4 26 30 0 34 34 Cosmic_Gene C C G C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 444 8 62566196 62566196 14 NBL diagnosis snv KCNV1 missense V214I NM_014379 30-PATNKP KCNV1|LOC100652975 MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.232 SQHIGH 20 44 64 0 58 58 Cosmic_Gene C C T C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 27012|100652975 8 110984838 110984838 63 NBL diagnosis snv KCNV2 silent F330F NM_133497 30-PATNKP KCNV2 SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans -9 0.045 SQHIGH 5 12 17 0 16 16 Cosmic_Gene C C T C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 169522 9 2718729 2718729 16 NBL diagnosis snv PRDM11 missense K750Q NM_001256695 30-PATNKP SNP Somatic 7 0.271 SQHIGH 16 28 44 0 28 28 A A C A A TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 11 45248424 45248424 40 NBL diagnosis snv PDX1 silent R114R NM_000209 30-PATNKP PDX1 SYNONYMOUS SNP Somatic 8 0.299 SQHIGH 11 19 30 0 20 20 C C T C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 3651 13 28494617 28494617 28 NBL diagnosis snv COL4A2 missense A1007T NM_001846 30-PATNKP COL4A2 MISSENSE SNP dbsnp.134:rs148455649 Somatic 7 0.271 SQHIGH 19 34 53 0 49 49 Cosmic_Gene G G A G G TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 1284 13 111137368 111137368 62 NBL diagnosis snv LOXHD1 silent L382L NM_144612 30-PATNKP LOXHD1 SYNONYMOUS SNP Somatic 8 0.299 SQHIGH 19 55 74 0 44 44 C C G C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 125336 18 44174418 44174418 43 NBL diagnosis snv MUC16 missense A1034S NM_024690 30-PATNKP MUC16 MISSENSE SNP Somatic 17 0.850 SQHIGH 15 11 26 0 56 56 Cosmic_Gene C C A C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 94025 19 9088715 9088715 91 NBL diagnosis snv IFNL3 splice_region C136_E3splice_region NM_172139 30-PATNKP IFNL3 INTRON SNP Somatic 8 0.299 SQHIGH 16 13 29 0 44 44 G G T G G TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 282617 19 39734641 39734641 79 NBL diagnosis snv PRR14L missense A1675T NM_173566 30-PATNKP PRR14L MISSENSE SNP Somatic 11 0.394 SQHIGH 16 18 34 1 71 72 Cosmic_Gene C C T C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 253143 22 32108802 32108802 81 NBL relapse snv KIF1B missense A1607T NM_015074 30-PATNKP KIF1B MISSENSE SNP Somatic 17 0.846 SQHIGH 20 22 42 0 41 41 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 23095 1 10434384 10434384 72 NBL relapse snv OR6N2 missense A170G NM_001005278 30-PATNKP OR6N2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 7 0.281 SQHIGH 19 56 75 0 68 68 G G C G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 81442 1 158746917 158746917 59 NBL relapse snv DNM3OS EXON E14_exon NM_015569 30-PATNKP MIR214|DNM3|DNM3OS TSS-UPSTREAM|INTRON|UTR SNP Somatic 3 0.147 SQHIGH 13 30 43 1 26 27 Cosmic_Gene C C G C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 406996|26052|100628315 1 172110271 172110271 23 NBL relapse snv HHAT missense E9K NM_001170587 30-PATNKP HHAT INTRON,UTR5,TSS-UPSTREAM,MISSENSE SNP Somatic 1 0.115 SQHIGH 12 48 60 1 33 34 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 55733 1 210502379 210502379 18 NBL relapse snv ARID4B splice_region E299_E11splice_region NM_016374 30-PATNKP ARID4B DONOR SNP Somatic 7 0.281 SQHIGH 15 47 62 0 51 51 Cosmic_Gene T T A T T TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 51742 1 235392542 235392542 43 NBL relapse snv DNAH6 missense R1147W NM_001370 30-PATNKP DNAH6 MISSENSE SNP Somatic PFAM:PF08393:DHC_N2 12 0.451 SQHIGH 17 29 46 1 51 52 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 1768 2 84838942 84838942 53 NBL relapse snv IMMT missense G55V NM_006839 30-PATNKP IMMT MISSENSE SNP Somatic 11 0.401 SQHIGH 14 31 45 0 36 36 Cosmic_Gene C C A C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 10989 2 86406701 86406701 40 NBL relapse snv TMEM131 missense I1127T NM_015348 30-PATNKP TMEM131 MISSENSE SNP Somatic 7 0.281 SQHIGH 19 33 52 0 50 50 Cosmic_Gene A A G A A TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 23505 2 98411399 98411399 64 NBL relapse snv XIRP2 silent S2933S NM_152381 30-PATNKP XIRP2 SYNONYMOUS,INTRON SNP Somatic 7 0.281 SQHIGH 17 49 66 1 39 40 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 129446 2 168106701 168106701 30 NBL relapse snv LRP2 missense Y2273N NM_004525 30-PATNKP LRP2 MISSENSE SNP Somatic 6 0.235 SQHIGH 20 41 61 0 69 69 Cosmic_Gene A A T A A TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 4036 2 170063413 170063413 74 NBL relapse snv SGOL2 missense M794I NM_152524 30-PATNKP SGOL2 MISSENSE SNP Somatic 14 0.562 SQHIGH 18 28 46 0 49 49 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 151246 2 201437451 201437451 66 NBL relapse snv RUFY4 missense Q511E NM_198483 30-PATNKP RUFY4 MISSENSE,UTR SNP Somatic 17 0.846 SQHIGH 12 11 23 0 39 39 Cosmic_Gene C C G C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 285180 2 218954003 218954003 62 NBL relapse snv SRGAP3 missense D1020H NM_014850 30-PATNKP SRGAP3 MISSENSE SNP Somatic 16 0.727 SQHIGH 22 15 37 0 50 50 Cosmic_Gene C C G C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 9901 3 9027445 9027445 104 NBL relapse snv PLXNB1 splice R1678_E26splice NM_002673 30-PATNKP PLXNB1 DISRUPT SNP Somatic 12 0.451 SQHIGH 11 17 28 0 25 25 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 5364 3 48453850 48453850 36 NBL relapse snv PRICKLE2-AS3 EXON E1_exon NM_198859 30-PATNKP PRICKLE2 INTRON SNP Somatic -10 0.041 SQHIGH 7 24 31 0 36 36 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 166336 3 64186381 64186381 25 NBL relapse snv FRMD4B silent L643L NM_015123 30-PATNKP FRMD4B SYNONYMOUS SNP Somatic 17 0.846 SQHIGH 10 16 26 0 45 45 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 23150 3 69231859 69231859 49 NBL relapse snv LAMP3 silent S377S NM_014398 30-PATNKP LAMP3 SYNONYMOUS SNP dbsnp.134:rs146757863 Somatic PFAM:PF01299:Lamp 8 0.308 SQHIGH 13 20 33 1 47 48 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 27074 3 182841989 182841989 48 NBL relapse snv SLC26A1 missense T268M NM_022042 30-PATNKP SLC26A1|IDUA INTRON,MISSENSE|INTRON SNP Somatic PFAM:PF00916:Sulfate_transp 14 0.562 SQHIGH 12 19 31 0 37 37 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 10861|3425 4 983924 983924 47 NBL relapse snv ABLIM2 missense P261L NM_001130083 30-PATNKP ABLIM2 MISSENSE SNP Somatic 6 0.235 SQHIGH 21 45 66 0 59 59 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 84448 4 8055955 8055955 66 NBL relapse snv DSPP missense D451E NM_014208 30-PATNKP DSPP MISSENSE SNP Somatic 5 0.189 SQHIGH 13 45 58 1 42 43 Cosmic_Gene C C G C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 1834 4 88535167 88535167 25 NBL relapse snv HERC3 missense S802Y NM_014606 30-PATNKP HERC3 MISSENSE SNP Somatic 7 0.281 SQHIGH 15 59 74 0 67 67 Cosmic_Gene C C A C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 8916 4 89602374 89602374 45 NBL relapse snv F11-AS1 EXON E15_exon NM_000128 30-PATNKP LOC285441|F11 UTR|UTR3 SNP Somatic 7 0.281 SQHIGH 29 41 70 0 66 66 A A C A A TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 285441|2160 4 187209929 187209929 99 NBL relapse snv FAT1 silent V203V NM_005245 30-PATNKP FAT1 SYNONYMOUS SNP Somatic 5 0.189 SQHIGH 16 54 70 0 57 57 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 2195 4 187630373 187630373 45 NBL relapse snv ADAMTS16 missense P915L NM_139056 30-PATNKP ADAMTS16 MISSENSE SNP Somatic 7 0.281 SQHIGH 20 43 63 0 46 46 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 170690 5 5262851 5262851 54 NBL relapse snv PCDH12 missense A723G NM_016580 30-PATNKP PCDH12 MISSENSE SNP Somatic 13 0.499 SQHIGH 21 31 52 0 39 39 Cosmic_Gene G G C G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 51294 5 141335249 141335249 61 NBL relapse snv GEMIN5 missense G683D NM_015465 30-PATNKP GEMIN5 MISSENSE SNP Somatic PFAM:PF00400:WD40 13 0.499 SQHIGH 12 27 39 1 59 60 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 25929 5 154291406 154291406 44 NBL relapse snv LOC101928445 EXON E14_exon NM_025158 30-PATNKP RUFY1 INTRON SNP Somatic 16 0.727 SQHIGH 11 23 34 0 40 40 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 80230 5 179026572 179026572 42 NBL relapse snv EEF1E1-BLOC1S5 EXON E5_exon NM_201280 30-PATNKP MUTED|EEF1E1-MUTED|MUTED-TXNDC5 UTR3|UTR|INTRON SNP Somatic 14 0.562 SQHIGH 44 38 82 0 49 49 T T G T T TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 63915|100526837|100526836 6 8013947 8013947 116 NBL relapse snv RNF182 silent S217S NM_001165032 30-PATNKP RNF182 SYNONYMOUS SNP Somatic 4 0.168 SQHIGH 13 47 60 0 38 38 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 221687 6 13978001 13978001 30 NBL relapse snv OR2H2 missense I111T NM_007160 30-PATNKP OR2H2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.189 SQHIGH 18 65 83 0 61 61 T T C T T TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 7932 6 29556053 29556053 47 NBL relapse snv EFHC1 missense R352L NM_018100 30-PATNKP EFHC1 MISSENSE,UTR SNP Somatic PFAM:PF06565:DUF1126 15 0.658 SQHIGH 34 37 71 0 53 53 Cosmic_Gene G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 114327 6 52329831 52329831 102 NBL relapse snv HYMAI EXON E1_exon NM_002656 30-PATNKP PLAGL1|HYMAI INTRON|UTR SNP Somatic 5 0.189 SQHIGH 6 13 19 1 42 43 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 5325|57061 6 144325537 144325537 26 NBL relapse snv TTYH3 missense P333R NM_025250 30-PATNKP TTYH3 MISSENSE SNP Somatic 6 0.235 SQHIGH 15 36 51 0 48 48 C C G C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 80727 7 2692622 2692622 48 NBL relapse snv DNAH11 silent A4508A NM_001277115 30-PATNKP DNAH11|CDCA7L SYNONYMOUS|UTR3 SNP Somatic PFAM:PF03028:Dynein_heavy 10 0.365 SQHIGH 17 27 44 1 47 48 Cosmic_Gene T T A T T TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 8701|55536 7 21940845 21940845 52 NBL relapse snv BAIAP2L1 missense P258L NM_018842 30-PATNKP BAIAP2L1 MISSENSE SNP Somatic 6 0.235 SQHIGH 20 43 63 0 42 42 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 55971 7 97941443 97941443 51 NBL relapse snv GAL3ST4 missense T356I NM_024637 30-PATNKP C7orf43|GAL3ST4|MIR4658 TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF03567:Sulfotransfer_2 1 0.115 SQHIGH 10 37 47 0 39 39 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 55262|79690|100616439 7 99757945 99757945 28 NBL relapse snv LHFPL3-AS1 EXON E2_exon NM_199000 30-PATNKP LHFPL3|LOC645591 INTRON|UTR SNP Somatic 5 0.189 SQHIGH 15 56 71 1 50 51 A A C A A TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 375612|645591 7 104436974 104436974 29 NBL relapse snv CDHR3 missense A256V NM_152750 30-PATNKP CDHR3 MISSENSE SNP Somatic 8 0.308 SQHIGH 18 57 75 0 46 46 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 222256 7 105641961 105641961 41 NBL relapse snv PPP1R3A nonsense G840* NM_002711 30-PATNKP PPP1R3A NONSENSE SNP Somatic 4 0.168 SQHIGH 17 74 91 0 56 56 Cosmic_Gene C C A C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 5506 7 113518629 113518629 38 NBL relapse snv SSPO missense P2824L NM_198455 30-PATNKP SSPO MISSENSE SNP Somatic 7 0.281 SQHIGH 20 47 67 0 55 55 C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 23145 7 149502658 149502658 59 NBL relapse snv SSPO silent R4902R NM_198455 30-PATNKP SSPO SYNONYMOUS SNP Somatic 4 0.168 SQHIGH 11 37 48 0 49 49 G G C G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 23145 7 149523896 149523896 36 NBL relapse snv FGFR1 missense N546K NM_023110 30-PATNKP FGFR1 MISSENSE SNP Somatic -7 0.053 SQHIGH 5 18 23 0 20 20 COSMIC:mut:19176 Cosmic_Gene G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 2260 8 38274849 38274849 15 NBL relapse snv NCOA2 missense S469I NM_006540 30-PATNKP NCOA2 MISSENSE SNP Somatic 7 0.281 SQHIGH 23 41 64 0 61 61 Cosmic_Gene C C A C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 10499 8 71069194 71069194 77 NBL relapse snv KCNV1 missense V214I NM_014379 30-PATNKP KCNV1|LOC100652975 MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.235 SQHIGH 21 46 67 0 58 58 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 27012|100652975 8 110984838 110984838 64 NBL relapse snv SHARPIN missense Y298F NM_030974 30-PATNKP SHARPIN MISSENSE,UTR SNP Somatic PFAM:PF00789:UBX 10 0.365 SQHIGH 40 61 101 0 76 76 Cosmic_Gene T T A T T TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 81858 8 145154209 145154209 116 NBL relapse snv TESK1 silent L284L NM_006285 30-PATNKP TESK1 SYNONYMOUS SNP Somatic 12 0.451 SQHIGH 10 1 11 0 50 50 Cosmic_Gene G A A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 7016 9 35608213 35608213 99 NBL relapse snv DCLRE1C splice_region M121_E5splice_region NM_001033855 30-PATNKP DCLRE1C INTRON,DONOR SNP Somatic 15 0.658 SQHIGH 12 21 33 0 38 38 Cosmic_Gene C C A C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 64421 10 14978532 14978532 46 NBL relapse snv TDRD1 silent T874T NM_198795 30-PATNKP TDRD1 SYNONYMOUS SNP Somatic -2 0.083 SQHIGH 7 36 43 0 40 40 C C A C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 56165 10 115980454 115980454 21 NBL relapse snv OR2AG1 missense F12V NM_001004489 30-PATNKP OR2AG1 MISSENSE SNP Somatic 6 0.235 SQHIGH 20 42 62 0 63 63 Cosmic_Gene T T G T T TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 144125 11 6806302 6806302 69 NBL relapse snv C11orf30 missense A1037T NM_020193 30-PATNKP C11orf30 MISSENSE SNP Somatic PFAM:PF09770:PAT1 4 0.168 SQHIGH 13 47 60 0 59 59 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 56946 11 76255702 76255702 42 NBL relapse snv APLP2 missense R389L NM_001642 30-PATNKP APLP2 MISSENSE,UTR SNP Somatic PFAM:PF12925:APP_E2 10 0.365 SQHIGH 9 22 31 0 45 45 Cosmic_Gene G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 334 11 129996670 129996670 38 NBL relapse snv CDCA3 missense D255E NM_031299 30-PATNKP CDCA3|USP5 MISSENSE|TSS-UPSTREAM SNP Somatic 12 0.451 SQHIGH 17 16 33 1 77 78 Cosmic_Gene G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 83461|8078 12 6958249 6958249 94 NBL relapse snv MCRS1 splice_region E362_E12splice_region NM_006337 30-PATNKP MCRS1 INTRON SNP Somatic 9 0.335 SQHIGH 25 41 66 0 74 74 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 10445 12 49953226 49953226 95 NBL relapse snv AACS missense N320I NM_023928 30-PATNKP AACS MISSENSE SNP Somatic PFAM:PF04443:LuxE -4 0.069 SQHIGH 4 11 15 0 18 18 Cosmic_Gene A A T A A TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 65985 12 125599066 125599066 15 NBL relapse snv ANHX silent A19A NM_001191054 30-PATNKP ANHX SYNONYMOUS SNP Somatic 12 0.451 SQHIGH 14 34 48 1 38 39 C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 647589 12 133810886 133810886 31 NBL relapse snv PDX1 silent R114R NM_000209 30-PATNKP PDX1 SYNONYMOUS SNP Somatic 9 0.335 SQHIGH 13 18 31 0 20 20 C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 3651 13 28494617 28494617 34 NBL relapse snv TBC1D4 silent L267L NM_014832 30-PATNKP TBC1D4 SYNONYMOUS SNP Somatic 11 0.401 SQHIGH 14 26 40 0 42 42 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 9882 13 75936441 75936441 50 NBL relapse snv NALCN missense E1715D NM_052867 30-PATNKP NALCN MISSENSE SNP Somatic 3 0.147 SQHIGH 12 21 33 1 24 25 Cosmic_Gene T T A T T TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 259232 13 101707719 101707719 25 NBL relapse snv COL4A2 missense A1007T NM_001846 30-PATNKP COL4A2 MISSENSE SNP dbsnp.134:rs148455649 Somatic 9 0.335 SQHIGH 20 28 48 0 49 49 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 1284 13 111137368 111137368 72 NBL relapse snv COL4A2 missense T1692M NM_001846 30-PATNKP COL4A2 MISSENSE SNP Somatic PFAM:PF01413:C4 6 0.235 SQHIGH 11 30 41 0 43 43 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 1284 13 111164474 111164474 38 NBL relapse snv RALGAPA1 missense A813E NM_001283043 30-PATNKP RALGAPA1 INTRON SNP Somatic 2 0.130 SQHIGH 20 75 95 0 45 45 Cosmic_Gene G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 253959 14 36157743 36157743 37 NBL relapse snv SPATA7 missense K586Q NM_018418 30-PATNKP SPATA7 MISSENSE SNP Somatic 8 0.308 SQHIGH 19 37 56 0 57 57 Cosmic_Gene A A C A A TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 55812 14 88904722 88904722 66 NBL relapse snv JAG2 silent A699A NM_002226 30-PATNKP JAG2 SYNONYMOUS SNP Somatic 14 0.562 SQHIGH 8 6 14 0 30 30 Cosmic_Gene C C A C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 3714 14 105614700 105614700 48 NBL relapse snv SPG11 missense G1684A NM_025137 30-PATNKP SPG11 MISSENSE SNP Somatic 7 0.281 SQHIGH 9 22 31 0 32 32 Cosmic_Gene C C G C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 80208 15 44877904 44877904 31 NBL relapse snv LOC101929439 EXON E7_exon NM_152335 30-PATNKP C15orf27 INTRON SNP Somatic -5 0.063 SQHIGH 11 15 26 0 14 14 G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 123591 15 76467803 76467803 25 NBL relapse snv CHSY1 missense Q475H NM_014918 30-PATNKP CHSY1 MISSENSE SNP Somatic PFAM:PF01644:Chitin_synth_1 7 0.281 SQHIGH 24 22 46 1 31 32 C C A C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 22856 15 101718577 101718577 58 NBL relapse snv CREBBP splice_region G1465_E27splice_region NM_004380 30-PATNKP CREBBP ACCEPTOR SNP Somatic 16 0.727 SQHIGH 13 19 32 0 54 54 Cosmic_Gene C C G C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 1387 16 3786825 3786825 64 NBL relapse snv VWA3A missense M704I NM_173615 30-PATNKP VWA3A MISSENSE SNP Somatic 10 0.365 SQHIGH 14 33 47 0 61 61 Cosmic_Gene G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 146177 16 22145732 22145732 56 NBL relapse snv SPN missense R284W NM_001030288 30-PATNKP SPN MISSENSE SNP Somatic -3 0.075 SQHIGH 8 27 35 0 26 26 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 6693 16 29675899 29675899 21 NBL relapse snv SNORD111 EXON E6_exon NM_012426 30-PATNKP SNORD111|SF3B3 UTR|INTRON SNP Somatic 6 0.235 SQHIGH 16 35 51 0 44 44 Cosmic_Gene G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 692214|23450 16 70571967 70571967 49 NBL relapse snv SPG7 missense A634S NM_003119 30-PATNKP SPG7 MISSENSE SNP Somatic PFAM:PF01434:Peptidase_M41 16 0.727 SQHIGH 24 16 40 0 35 35 G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 6687 16 89619507 89619507 86 NBL relapse snv KIF1C silent E112E NM_006612 30-PATNKP INCA1|KIF1C TSS-UPSTREAM|SYNONYMOUS SNP Somatic 9 0.335 SQHIGH 19 25 44 1 36 37 Cosmic_Gene G G A G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 388324|10749 17 4904669 4904669 49 NBL relapse snv RAD51L3-RFFL EXON E7_exon NM_001017368 30-PATNKP RFFL|RAD51L3-RFFL UTR3,UTR|UTR SNP Somatic 7 0.281 SQHIGH 16 47 63 0 44 44 C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 117584|100529207 17 33338154 33338154 41 NBL relapse snv COIL missense I450V NM_004645 30-PATNKP LOC100288781|COIL TSS-UPSTREAM|MISSENSE SNP Somatic 4 0.168 SQHIGH 16 79 95 0 56 56 Cosmic_Gene T T C T T TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 100288781|8161 17 55027255 55027255 34 NBL relapse snv GALR2 missense K376M NM_003857 30-PATNKP ZACN|GALR2|SRP68 TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic -2 0.083 SQHIGH 8 38 46 0 22 22 Cosmic_Gene A A T A A TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 353174|8811|6730 17 74073475 74073475 15 NBL relapse snv C17orf70 missense C311S NM_025161 30-PATNKP C17orf70 MISSENSE,UTR SNP Somatic 2 0.130 SQHIGH 13 48 61 0 43 43 Cosmic_Gene C C G C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 80233 17 79517588 79517588 33 NBL relapse snv LOXHD1 silent L382L NM_144612 30-PATNKP LOXHD1 SYNONYMOUS SNP Somatic 7 0.281 SQHIGH 17 54 71 0 44 44 C C G C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 125336 18 44174418 44174418 39 NBL relapse snv FAM69C missense R111Q NM_001044369 30-PATNKP LOC100505838|FAM69C INTRON|MISSENSE SNP Somatic 11 0.401 SQHIGH 18 20 38 0 30 30 C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 100505838|125704 18 72114385 72114385 56 NBL relapse snv DOT1L missense K90N NM_032482 30-PATNKP DOT1L MISSENSE SNP Somatic 16 0.727 SQHIGH 11 15 26 1 55 56 Cosmic_Gene G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 84444 19 2191016 2191016 53 NBL relapse snv MUC16 missense A1034S NM_024690 30-PATNKP MUC16 MISSENSE SNP Somatic 16 0.727 SQHIGH 21 23 44 0 56 56 Cosmic_Gene C C A C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 94025 19 9088715 9088715 90 NBL relapse snv KLF1 silent E253E NM_006563 30-PATNKP KLF1|DNASE2 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 7 0.281 SQHIGH 20 17 37 1 40 41 C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 10661|1777 19 12996285 12996285 69 NBL relapse snv IFNL3 splice_region C136_E3splice_region NM_172139 30-PATNKP IFNL3 INTRON SNP Somatic 9 0.335 SQHIGH 18 14 32 0 44 44 G G T G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 282617 19 39734641 39734641 84 NBL relapse snv PRR14L missense A1675T NM_173566 30-PATNKP PRR14L MISSENSE SNP Somatic 10 0.365 SQHIGH 31 21 52 1 71 72 Cosmic_Gene C C T C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 253143 22 32108802 32108802 135 NBL relapse snv PHF21B nonsense L464* NM_138415 30-PATNKP PHF21B NONSENSE SNP Somatic 8 0.308 SQHIGH 6 6 12 0 28 28 Cosmic_Gene A A T A A TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 112885 22 45279171 45279171 36 NBL diagnosis snv NRAS missense Q61K NM_002524 30-PATYIL NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 19 0.950 SQHIGH 19 15 34 0 25 25 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-30-PATYIL-01A-01D TARGET-30-PATYIL-10A-01D 4893 1 115256530 115256530 59 NBL diagnosis snv WDR64 silent P699P NM_144625 30-PATYIL WDR64 SYNONYMOUS SNP Somatic 17 0.767 SQHIGH 21 24 45 0 44 44 Cosmic_Gene C C A C C TARGET-30-PATYIL-01A-01D TARGET-30-PATYIL-10A-01D 128025 1 241932751 241932751 75 NBL diagnosis snv OR5AR1 missense R128Q NM_001004730 30-PATYIL OR5AR1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 11 0.360 SQHIGH 19 23 42 0 42 42 G G A G G TARGET-30-PATYIL-01A-01D TARGET-30-PATYIL-10A-01D 219493 11 56431544 56431544 69 NBL diagnosis snv AFG3L2 missense K568N NM_006796 30-PATYIL AFG3L2 MISSENSE SNP Somatic PFAM:PF01434:Peptidase_M41 3 0.158 SQHIGH 11 18 29 0 23 23 C C A C C TARGET-30-PATYIL-01A-01D TARGET-30-PATYIL-10A-01D 10939 18 12344206 12344206 32 NBL relapse snv NRAS missense Q61K NM_002524 30-PATYIL NRAS MISSENSE SNP dbsnp.133:rs121913254 Somatic 10 0.333 SQHIGH 7 11 18 0 25 25 COSMIC:mut:580 Cosmic_Gene G G T G G TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 4893 1 115256530 115256530 30 NBL relapse snv C1orf54 splice_region P100_E4splice_region NM_024579 30-PATYIL C1orf54 DONOR SNP Somatic -7 0.063 SQHIGH 5 18 23 0 38 38 A A G A A TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 79630 1 150249044 150249044 22 NBL relapse snv PLCL1 nonsense G690* NM_006226 30-PATYIL PLCL1 NONSENSE SNP Somatic -10 0.049 SQHIGH 7 55 62 0 37 37 Cosmic_Gene G G T G G TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 5334 2 198950309 198950309 15 NBL relapse snv FGD2 silent S287S NM_173558 30-PATYIL FGD2 SYNONYMOUS SNP dbsnp.134:rs141636165 Somatic -3 0.088 SQHIGH 8 44 52 0 54 54 Cosmic_Gene C C A C C TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 221472 6 36982459 36982459 26 NBL relapse snv DCAF12 missense S32L NM_015397 30-PATYIL DCAF12 MISSENSE SNP Somatic 11 0.370 SQHIGH 22 28 50 0 45 45 G G A G G TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 25853 9 34125259 34125259 74 NBL relapse snv FAM53B missense T337N NM_014661 30-PATYIL FAM53B MISSENSE SNP Somatic -8 0.058 SQHIGH 6 15 21 1 26 27 Cosmic_Gene G G T G G TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 9679 10 126312070 126312070 17 NBL relapse snv OR4C6 silent L13L NM_001004704 30-PATYIL OR4C6 SYNONYMOUS SNP Somatic 15 0.600 SQHIGH 15 11 26 0 31 31 Cosmic_Gene G G T G G TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 219432 11 55432681 55432681 65 NBL relapse snv ALDH1L2 nonsense C108* NM_001034173 30-PATYIL ALDH1L2 NONSENSE,UTR SNP Somatic 13 0.465 SQHIGH 14 23 37 0 45 45 Cosmic_Gene G G T G G TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 160428 12 105464452 105464452 56 NBL relapse snv ARHGEF40 missense L474P NM_018071 30-PATYIL ARHGEF40 MISSENSE SNP Somatic -1 0.108 SQHIGH 4 13 17 1 31 32 Cosmic_Gene T T C T T TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 55701 14 21543310 21543310 14 NBL relapse snv TLDC1 missense G340C NM_020947 30-PATYIL TLDC1 MISSENSE SNP Somatic PFAM:PF07534:TLD 10 0.333 SQHIGH 13 14 27 0 34 34 Cosmic_Gene C C A C C TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 57707 16 84516257 84516257 55 NBL relapse snv TNFAIP1 silent T232T NM_021137 30-PATYIL TNFAIP1 SYNONYMOUS SNP Somatic 19 0.952 SQHIGH 13 11 24 0 37 37 G G A G G TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 7126 17 26669450 26669450 64 NBL relapse snv AFG3L2 missense K568N NM_006796 30-PATYIL AFG3L2 MISSENSE SNP Somatic PFAM:PF01434:Peptidase_M41 3 0.160 SQHIGH 15 20 35 0 23 23 C C A C C TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 10939 18 12344206 12344206 40 NBL relapse snv CFAP61 splice_region C687_E19splice_region NM_015585 30-PATYIL CFAP61 ACCEPTOR SNP Somatic -2 0.098 SQHIGH 10 35 45 0 42 42 Cosmic_Gene T T C T T TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 26074 20 20226757 20226757 31 NBL relapse snv SAMHD1 missense L453I NM_015474 30-PATYIL SAMHD1 MISSENSE SNP Somatic 16 0.670 SQHIGH 9 16 25 0 36 36 G G T G G TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 25939 20 35533820 35533820 39 NBL relapse snv MAGEB5 missense Q49K NM_001271752 30-PATYIL MAGEB5 MISSENSE SNP Somatic PFAM:PF01454:MAGE 3 0.160 SQHIGH 19 27 46 0 31 31 Cosmic_Gene C C A C C TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 347541 X 26235563 26235563 51 NBL relapse snv ABCD1 missense R117S NM_000033 30-PATYIL BCAP31|ABCD1 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00664:ABC_membrane 14 0.535 SQHIGH 10 15 25 0 23 23 G G C G G TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 10134|215 X 152991072 152991072 33 NBL relapse mnv CHD4 missense E1859_L1860>AV NM_001273 30-PATYIL NOP2|CHD4 TSS-UPSTREAM|MISSENSE Sub Somatic PFAM:PF08074:CHDCT2 -10 0.284 SQHIGH 6 17 23 0 24 24 Cosmic_Gene GTT GTT CAG GTT GTT TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 4839|1108 12 6680178 6680180 20 NBL relapse mnv MAP3K9 missense P923R NM_033141 30-PATYIL MAP3K9 MISSENSE Sub Somatic -9 0.299 SQHIGH 3 11 14 0 24 24 Cosmic_Gene GG GG CC GG GG TARGET-30-PATYIL-02A-01D TARGET-30-PATYIL-10A-01D 4293 14 71199359 71199360 14 NBL diagnosis snv PRRC2A missense R4C NM_080686 30-PAUDDK SNORA38|PRRC2A TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF07001:BAT2_N -10 0.051 SQHIGH 6 54 60 0 45 45 Cosmic_Gene C C T C C TARGET-30-PAUDDK-01A-01D TARGET-30-PAUDDK-10A-01D 677820|7916 6 31590576 31590576 15 NBL diagnosis snv IYD silent A38A NM_001164694 30-PAUDDK IYD SYNONYMOUS SNP Somatic 0 0.115 SQHIGH 14 47 61 0 45 45 Cosmic_Gene C C T C C TARGET-30-PAUDDK-01A-01D TARGET-30-PAUDDK-10A-01D 389434 6 150690281 150690281 37 NBL diagnosis snv ABCA13 missense S316R NM_152701 30-PAUDDK ABCA13 MISSENSE SNP Somatic -2 0.095 SQHIGH 16 55 71 0 54 54 Cosmic_Gene C C A C C TARGET-30-PAUDDK-01A-01D TARGET-30-PAUDDK-10A-01D 154664 7 48278888 48278888 43 NBL diagnosis snv RP1 missense V2044L NM_006269 30-PAUDDK RP1 MISSENSE SNP Somatic 6 0.253 SQHIGH 16 35 51 0 41 41 Cosmic_Gene G G T G G TARGET-30-PAUDDK-01A-01D TARGET-30-PAUDDK-10A-01D 6101 8 55542572 55542572 46 NBL diagnosis snv TLN1 silent L2020L NM_006289 30-PAUDDK TLN1 SYNONYMOUS SNP Somatic -1 0.105 SQHIGH 5 12 17 0 33 33 Cosmic_Gene C C A C C TARGET-30-PAUDDK-01A-01D TARGET-30-PAUDDK-10A-01D 7094 9 35704159 35704159 25 NBL diagnosis snv SH3PXD2A-AS1 EXON E3_exon NM_014631 30-PAUDDK LOC100505839|SH3PXD2A UTR|INTRON SNP Somatic -4 0.080 SQHIGH 5 28 33 0 30 30 T T C T T TARGET-30-PAUDDK-01A-01D TARGET-30-PAUDDK-10A-01D 100505839|9644 10 105506581 105506581 15 NBL diagnosis snv NLRC3 missense A163D NM_178844 30-PAUDDK NLRC3 MISSENSE SNP Somatic PFAM:PF00485:PRK 15 0.690 SQHIGH 17 30 47 1 58 59 Cosmic_Gene G G T G G TARGET-30-PAUDDK-01A-01D TARGET-30-PAUDDK-10A-01D 197358 16 3614450 3614450 58 NBL diagnosis snv APPBP2 missense S511R NM_006380 30-PAUDDK APPBP2 MISSENSE SNP Somatic -7 0.065 SQHIGH 7 57 64 0 34 34 T T G T T TARGET-30-PAUDDK-01A-01D TARGET-30-PAUDDK-10A-01D 10513 17 58525169 58525169 13 NBL relapse snv CHD1L missense L777F NM_004284 30-PAUDDK CHD1L MISSENSE SNP Somatic -3 0.084 SQHIGH 14 44 58 0 46 46 Cosmic_Gene G G T G G TARGET-30-PAUDDK-02A-01D TARGET-30-PAUDDK-10A-01D 9557 1 146763174 146763174 39 NBL relapse snv ERICH2 missense E45D NM_001289947 30-PAUDDK ERICH2 MISSENSE SNP Somatic 2 0.138 SQHIGH 4 18 22 0 26 26 A A T A A TARGET-30-PAUDDK-02A-01D TARGET-30-PAUDDK-10A-01D 285141 2 171641262 171641262 14 NBL relapse snv TMEM233 missense S17R NM_001136534 30-PAUDDK TMEM233 MISSENSE SNP Somatic -10 0.048 SQHIGH 5 27 32 0 26 26 T T G T T TARGET-30-PAUDDK-02A-01D TARGET-30-PAUDDK-10A-01D 387890 12 120031704 120031704 14 NBL relapse snv IL16 missense P577Q NM_001172128 30-PAUDDK IL16 TSS-UPSTREAM,MISSENSE SNP Somatic 0 0.113 SQHIGH 7 22 29 0 51 51 Cosmic_Gene C C A C C TARGET-30-PAUDDK-02A-01D TARGET-30-PAUDDK-10A-01D 3603 15 81585206 81585206 33 NBL relapse snv ESRP2 missense L680M NM_024939 30-PAUDDK ESRP2 MISSENSE SNP Somatic 14 0.554 SQHIGH 20 26 46 0 45 45 Cosmic_Gene G G T G G TARGET-30-PAUDDK-02A-01D TARGET-30-PAUDDK-10A-01D 80004 16 68264318 68264318 71 NBL diagnosis ins COA6 frameshift K100fs NM_001012985 30-PAISNS COA6 FRAMESHIFT Ins Somatic 0 0.615 SQHIGH 5 18 23 0 31 31 A TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 388753 1 234519483 234519483 20 NBL diagnosis del ZEB2 frameshift N855_N861fs NM_014795 30-PAISNS ZEB2 FRAMESHIFT Del Somatic -1 0.409 SQHIGH 18 43 61 0 70 70 Cosmic_Gene TTCAGAGGCTCATCTGAGTT TTCAGAGGCTCATCTGAGTT TTCAGAGGCTCATCTGAGTT TTCAGAGGCTCATCTGAGTT TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 9839 2 145156172 145156191 67 NBL diagnosis ins ZNF485 frameshift L118fs NM_145312 30-PAISNS ZNF485 FRAMESHIFT Ins Somatic -10 0.168 SQHIGH 4 46 50 0 60 60 A TARGET-30-PAISNS-01A-01D TARGET-30-PAISNS-10A-01D 220992 10 44111845 44111845 14 NBL diagnosis del INPPL1 frameshift S157fs NM_001567 30-PAIVZR INPPL1 FRAMESHIFT Del Somatic -10 0.264 SQHIGH 5 16 21 0 20 20 Cosmic_Gene C C C C TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 3636 11 71939844 71939844 16 NBL diagnosis del DNASE1L1 frameshift T242fs NM_006730 30-PAIVZR DNASE1L1 FRAMESHIFT Del Somatic -8 0.287 SQHIGH 5 30 35 1 64 65 T T T T TARGET-30-PAIVZR-01A-01D TARGET-30-PAIVZR-10A-01D 1774 X 153631333 153631333 17 NBL diagnosis del PCLO frameshift K2131_F2136fs NM_033026 30-PAIXFZ PCLO FRAMESHIFT Del Somatic 2 0.682 SQHIGH 11 26 37 0 65 65 Cosmic_Gene AATGTTGGGTTATTTT AATGTTGGGTTATTTT AATGTTGGGTTATTTT AATGTTGGGTTATTTT TARGET-30-PAIXFZ-01A-01D TARGET-30-PAIXFZ-10A-01D 27445 7 82583863 82583878 53 NBL diagnosis del SCRIB frameshift Q548fs NM_182706 30-PALXTB SCRIB FRAMESHIFT Del Somatic -7 0.276 SQHIGH 6 19 25 0 19 19 Cosmic_Gene C C C C TARGET-30-PALXTB-01A-01D TARGET-30-PALXTB-10A-01D 23513 8 144891775 144891775 16 NBL diagnosis del ZBTB33 frameshift T168fs NM_006777 30-PAMNLH ZBTB33 FRAMESHIFT Del Somatic 0 0.506 SQHIGH 14 43 57 2 60 62 Cosmic_Gene AC AC AC AC TARGET-30-PAMNLH-01A-01D TARGET-30-PAMNLH-10A-01D 10009 X 119387772 119387773 32 NBL diagnosis ins ASXL2 frameshift Q159fs NM_018263 30-PANLET ASXL2 FRAMESHIFT Ins Somatic -5 0.368 SQHIGH 7 27 34 0 24 24 Cosmic_Gene G TARGET-30-PANLET-01A-01D TARGET-30-PANLET-10A-01D 55252 2 25994335 25994335 17 NBL diagnosis ins PP14571 EXON E1_exon NM_002081 30-PANNMS LOC100505507|MIR149|GPC1|PP14571 INTRON|TSS-UPSTREAM|INTRON|UTR Ins Somatic -8 0.235 SQHIGH 5 24 29 0 33 33 Cosmic_Gene A TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 100505507|406941|2817|100130449 2 241390716 241390716 17 NBL diagnosis del PP14571 EXON E1_exon NM_002081 30-PANNMS LOC100505507|MIR149|GPC1|PP14571 INTRON|TSS-UPSTREAM|INTRON|UTR Del Somatic -9 0.256 SQHIGH 5 32 37 0 37 37 Cosmic_Gene C C C C TARGET-30-PANNMS-01A-01D TARGET-30-PANNMS-10A-01D 100505507|406941|2817|100130449 2 241390720 241390720 16 NBL diagnosis del LRIG3 splice L208_E6splice NM_001136051 30-PANRVJ LRIG3 DISRUPT Del Somatic -5 0.308 SQHIGH 8 28 36 0 34 34 Cosmic_Gene C C C C TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 121227 12 59282600 59282600 25 NBL diagnosis del ALYREF frameshift A164fs NM_005782 30-PANRVJ THOC4|ANAPC11 FRAMESHIFT|TSS-UPSTREAM Del Somatic 3 0.772 SQHIGH 14 54 68 0 40 40 G G G G TARGET-30-PANRVJ-01A-01D TARGET-30-PANRVJ-10A-01D 10189|51529 17 79847105 79847105 31 NBL diagnosis ins EIF4G2 frameshift F852fs NM_001418 30-PAPCTS EIF4G2 FRAMESHIFT Ins Somatic PFAM:PF02020:W2 -7 0.289 SQHIGH 9 43 52 1 41 42 Cosmic_Gene A TARGET-30-PAPCTS-01A-01D TARGET-30-PAPCTS-10A-01D 1982 11 10820640 10820640 17 NBL diagnosis del HPN-AS1 EXON E4_exon NM_182983 30-PAPEAV LOC100128675|HPN UTR|INTRON Del Somatic -10 0.259 SQHIGH 3 20 23 0 40 40 Cosmic_Gene C C C C TARGET-30-PAPEAV-01A-01D TARGET-30-PAPEAV-10A-01D 100128675|3249 19 35550058 35550058 14 NBL diagnosis ins LOC100130744 EXON E10_exon NM_054027 30-PAPKXS ANKH INTRON Ins Somatic -6 0.325 SQHIGH 5 25 30 0 31 31 Cosmic_Gene C TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 56172 5 14713183 14713183 16 NBL diagnosis ins RMI1 frameshift E375fs NM_024945 30-PAPKXS RMI1 FRAMESHIFT Ins Somatic -8 0.236 SQHIGH 10 19 29 3 28 31 A TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 80010 9 86617024 86617024 17 NBL diagnosis ins RSF1 proteinIns K1072>KKKEK NM_016578 30-PAPKXS RSF1 INSERT Ins Somatic -10 0.184 SQHIGH 9 28 37 0 28 28 Cosmic_Gene TTTTTCTTTCTT TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 51773 11 77387961 77387961 24 NBL diagnosis ins NR1H4 splice_region L274_E8splice_region NM_005123 30-PAPKXS NR1H4 ACCEPTOR Ins Somatic -8 0.236 SQHIGH 11 8 19 1 18 19 Cosmic_Gene AA TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 9971 12 100930716 100930716 33 NBL diagnosis del GPR179 proteinDel E1628_D1631>D NM_001004334 30-PAPKXS GPR179 DELETE Del Somatic 3 0.769 SQHIGH 85 57 142 0 110 110 Cosmic_Gene TCTTCGATT TCTTCGATT TCTTCGATT TCTTCGATT TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 440435 17 36484560 36484568 283 NBL diagnosis del DOCK6 frameshift S164fs NM_020812 30-PAPKXS DOCK6 FRAMESHIFT Del Somatic -1 0.448 SQHIGH 27 31 58 1 51 52 Cosmic_Gene G G G G TARGET-30-PAPKXS-01A-01D TARGET-30-PAPKXS-10A-01D 57572 19 11362810 11362810 79 NBL diagnosis del CSNK1E splice_region I113_E5splice_region NM_152221 30-PAPTAN CSNK1E ACCEPTOR Del Somatic -1 0.489 SQHIGH 21 30 51 1 64 65 Cosmic_Gene A A A A TARGET-30-PAPTAN-01A-01D TARGET-30-PAPTAN-10A-01D 1454 22 38696967 38696967 76 NBL diagnosis ins SLC4A3 frameshift A150fs NM_005070 30-PAPTFZ SLC4A3 FRAMESHIFT Ins Somatic -7 0.322 SQHIGH 6 43 49 0 49 49 Cosmic_Gene A TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 6508 2 220494096 220494096 19 NBL diagnosis del WRN frameshift L903fs NM_000553 30-PAPTFZ WRN FRAMESHIFT Del Somatic -7 0.289 SQHIGH 4 24 28 0 31 31 Cosmic_Gene T T T T TARGET-30-PAPTFZ-01A-01D TARGET-30-PAPTFZ-10A-01D 7486 8 30982115 30982115 13 NBL diagnosis del SREBF2 frameshift L492fs NM_004599 30-PAPTIP SREBF2 FRAMESHIFT Del Somatic 1 0.587 SQHIGH 8 22 30 0 24 24 Cosmic_Gene C C C C TARGET-30-PAPTIP-01A-01D TARGET-30-PAPTIP-10A-01D 6721 22 42273322 42273322 22 NBL diagnosis ins TRMT61B frameshift R111fs NM_017910 30-PAPTMM TRMT61B FRAMESHIFT Ins Somatic 1 0.735 SQHIGH 5 20 25 0 28 28 G TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 55006 2 29092812 29092812 17 NBL diagnosis ins ADCY7 frameshift V725fs NM_001286057 30-PAPTMM ADCY7 INTRON Ins Somatic -3 0.479 SQHIGH 34 35 69 1 66 67 Cosmic_Gene T TARGET-30-PAPTMM-01A-01D TARGET-30-PAPTMM-10A-01D 113 16 50344377 50344377 110 NBL diagnosis del REG3A frameshift C40fs NM_002580 30-PAPUWY REG3A FRAMESHIFT Del Somatic -2 0.418 SQHIGH 14 32 46 0 51 51 Cosmic_Gene C C C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 5068 2 79385853 79385853 51 NBL diagnosis ins NUMA1 frameshift Q1424fs NM_006185 30-PAPUWY NUMA1 FRAMESHIFT Ins Somatic -7 0.288 SQHIGH 5 18 23 0 34 34 Cosmic_Gene C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 4926 11 71724276 71724276 21 NBL diagnosis del CACNA1C frameshift N1895fs NM_199460 30-PAPUWY CACNA1C FRAMESHIFT,INTRON Del Somatic -10 0.263 SQHIGH 7 31 45 0 42 50 Cosmic_Gene C C C C TARGET-30-PAPUWY-01A-01D TARGET-30-PAPUWY-10A-01D 775 12 2791212 2791212 24 NBL diagnosis del AHCTF1 frameshift L2119fs NM_015446 30-PAPVEB AHCTF1 FRAMESHIFT Del Somatic 5 0.938 SQHIGH 14 21 35 0 42 42 Cosmic_Gene G G G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 25909 1 247012980 247012980 56 NBL diagnosis del ZNF292 frameshift V2561fs NM_015021 30-PAPVEB ZNF292 FRAMESHIFT Del Somatic -5 0.329 SQHIGH 3 2 5 1 19 20 Cosmic_Gene G G G G TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 23036 6 87971028 87971028 18 NBL diagnosis ins BRD7P3 EXON E5_exon NM_001042475 30-PAPVEB BRD7P3|C6orf204 UTR|INTRON Ins Somatic -10 0.181 SQHIGH 5 19 24 0 22 22 Cosmic_Gene A TARGET-30-PAPVEB-01A-01D TARGET-30-PAPVEB-10A-01D 23629|387119 6 118824901 118824901 15 NBL relapse del C17orf49 frameshift T45fs NM_001142798 30-PAPVEB RNASEK-C17ORF49|LOC100506713|C17orf49 UTR|TSS-UPSTREAM|INTRON,FRAMESHIFT Del Somatic -4 0.354 SQHIGH 3 11 14 0 28 28 Cosmic_Gene G G G G TARGET-30-PAPVEB-04A-01D TARGET-30-PAPVEB-10A-01D 100529209|100506713|124944 17 6919111 6919111 15 NBL diagnosis ins RRM1 frameshift Y738fs NM_001033 30-PAPVFD RRM1 FRAMESHIFT Ins Somatic -10 0.181 SQHIGH 5 22 30 0 19 23 Cosmic_Gene T TARGET-30-PAPVFD-01A-01D TARGET-30-PAPVFD-10A-01D 6240 11 4159447 4159447 12 NBL diagnosis ins ANKLE1 frameshift F505fs NM_152363 30-PAPVRN ANKLE1 FRAMESHIFT Ins Somatic -4 0.434 SQHIGH 5 9 14 1 21 22 T TARGET-30-PAPVRN-01A-01D TARGET-30-PAPVRN-10A-01D 126549 19 17395049 17395049 16 NBL diagnosis del RAD54L frameshift P360fs NM_003579 30-PAPVXS RAD54L FRAMESHIFT Del Somatic -6 0.282 SQHIGH 8 33 41 0 36 36 Cosmic_Gene CA CA CA CA TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 8438 1 46736367 46736368 23 NBL diagnosis ins LOC100288181 EXON E2_exon NM_017527 30-PAPVXS LY6K|LOC100288181 INTRON|UTR Ins Somatic -7 0.307 SQHIGH 6 25 31 0 32 32 Cosmic_Gene T TARGET-30-PAPVXS-01A-01D TARGET-30-PAPVXS-10A-01D 54742|100288181 8 143783951 143783951 20 NBL diagnosis del KIF26A frameshift A1257fs NM_015656 30-PAPWUC KIF26A FRAMESHIFT Del Somatic -6 0.288 SQHIGH 7 10 17 0 15 15 Cosmic_Gene C C C C TARGET-30-PAPWUC-01A-01D TARGET-30-PAPWUC-10A-01D 26153 14 104642895 104642895 22 NBL diagnosis del KDM1A frameshift F821fs NM_001009999 30-PAPZYP KDM1A FRAMESHIFT Del Somatic PFAM:PF00670:AdoHcyase_NAD 0 0.513 SQHIGH 11 25 36 0 52 52 Cosmic_Gene C C C C TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 23028 1 23409689 23409689 47 NBL diagnosis del ATRX frameshift T1582fs NM_000489 30-PAPZYP ATRX FRAMESHIFT Del Somatic PFAM:PF00176:SNF2_N -1 0.447 SQHIGH 12 27 39 0 38 38 Cosmic_Gene G G G G TARGET-30-PAPZYP-01A-01D TARGET-30-PAPZYP-10A-01D 546 X 76890149 76890149 40 NBL diagnosis del LATS1 frameshift K739_D740fs NM_004690 30-PARABN LATS1 FRAMESHIFT Del Somatic -1 0.431 SQHIGH 10 14 24 0 51 51 Cosmic_Gene TCTT TCTT TCTT TCTT TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 9113 6 150001385 150001388 56 NBL diagnosis ins ZNF7 frameshift Q229fs NM_003416 30-PARABN LOC100507418|ZNF7 TSS-UPSTREAM|FRAMESHIFT Ins Somatic -10 0.169 SQHIGH 6 21 27 0 39 39 Cosmic_Gene A TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 100507418|7553 8 146067177 146067177 25 NBL diagnosis del XAF1 frameshift C62fs NM_017523 30-PARABN XAF1 INTRON,FRAMESHIFT Del Somatic -10 0.243 SQHIGH 4 31 35 0 46 46 T T T T TARGET-30-PARABN-01A-01D TARGET-30-PARABN-10A-01D 54739 17 6662998 6662998 15 NBL diagnosis del DAZL frameshift D249fs NM_001351 30-PARACS DAZL FRAMESHIFT Del Somatic -8 0.259 SQHIGH 7 16 23 1 29 30 C C C C TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 1618 3 16633646 16633646 21 NBL diagnosis del CEBPG proteinDel L129_T138>L NM_001806 30-PARACS CEBPG DELETE Del Somatic 0 0.505 SQHIGH 20 36 56 0 70 70 TGCAGACAACGTACAGTCCATTAGCAC TGCAGACAACGTACAGTCCATTAGCAC TGCAGACAACGTACAGTCCATTAGCAC TGCAGACAACGTACAGTCCATTAGCAC TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 1054 19 33870532 33870558 80 NBL diagnosis del LGI4 frameshift G394_R399fs NM_139284 30-PARACS LGI4 FRAMESHIFT Del Somatic PFAM:PF03736:EPTP -1 0.425 SQHIGH 12 31 43 0 42 42 Cosmic_Gene TCTCTCGAAGCGGCCAC TCTCTCGAAGCGGCCAC TCTCTCGAAGCGGCCAC TCTCTCGAAGCGGCCAC TARGET-30-PARACS-01A-01D TARGET-30-PARACS-10A-01D 163175 19 35617276 35617292 39 NBL diagnosis ins DNALI1 frameshift A66fs NM_003462 30-PARAHE SNIP1|DNALI1 TSS-UPSTREAM|FRAMESHIFT Ins Somatic -9 0.194 SQHIGH 4 19 23 1 49 50 Cosmic_Gene CA TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 79753|7802 1 38023253 38023253 15 NBL diagnosis del VCP frameshift L445fs NM_007126 30-PARAHE VCP FRAMESHIFT Del Somatic 8 1.000 SQHIGH 30 62 92 0 113 113 Cosmic_Gene AG AG AG AG TARGET-30-PARAHE-01A-01D TARGET-30-PARAHE-10A-01D 7415 9 35061037 35061038 118 NBL diagnosis ins MIR4684 EXON E1_exon NM_017449 30-PARBGP EPHB2|MIR4684 INTRON|UTR Ins Somatic -7 0.306 SQHIGH 28 34 62 0 81 81 Cosmic_Gene TACCTC TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 2048|100616391 1 23046019 23046019 121 NBL diagnosis ins NCAPG splice_region Q230_E4splice_region NM_022346 30-PARBGP DCAF16|NCAPG TSS-UPSTREAM|INTRON Ins Somatic 5 0.986 SQHIGH 11 17 28 1 37 38 Cosmic_Gene A TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 54876|64151 4 17816627 17816627 38 NBL diagnosis ins CHERP frameshift P454fs NM_006387 30-PARBGP CHERP FRAMESHIFT Ins Somatic -7 0.306 SQHIGH 14 24 38 0 31 31 Cosmic_Gene G TARGET-30-PARBGP-01A-01D TARGET-30-PARBGP-10A-01D 10523 19 16636431 16636431 42 NBL diagnosis del USP34 frameshift C2935fs NM_014709 30-PARCWT USP34 NONSENSE Del Somatic -4 0.333 SQHIGH 4 10 14 1 28 29 Cosmic_Gene G G G G TARGET-30-PARCWT-01A-01D TARGET-30-PARCWT-10A-01D 9736 2 61438942 61438942 15 NBL diagnosis del RPL7L1 frameshift T124fs NM_198486 30-PARDYU RPL7L1 FRAMESHIFT Del Somatic -1 0.444 SQHIGH 15 18 33 1 26 27 C C C C TARGET-30-PARDYU-01A-01D TARGET-30-PARDYU-10A-01D 285855 6 42852437 42852437 37 NBL diagnosis del KIAA1683 frameshift Q1318fs NM_001145304 30-PARETE KIAA1683|LOC729966 FRAMESHIFT|TSS-UPSTREAM Del Somatic -3 0.369 SQHIGH 4 23 27 0 29 29 Cosmic_Gene G G G G TARGET-30-PARETE-01A-01D TARGET-30-PARETE-10A-01D 80726|729966 19 18368142 18368142 13 NBL diagnosis ins ARID5A frameshift N8fs NM_212481 30-PARFWB ARID5A FRAMESHIFT Ins Somatic -2 0.487 SQHIGH 7 27 34 1 33 34 G TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 10865 2 97213158 97213158 16 NBL diagnosis del JADE1 proteinDel L529_G541>R NM_199320 30-PARFWB PHF17 SPAN3 Del Somatic 0 0.491 SQHIGH 21 52 73 0 104 104 TTTACACTAAGCTTTTGGAGCAAGAAAGAGTTTCAGGTATGCA TTTACACTAAGCTTTTGGAGCAAGAAAGAGTTTCAGGTATGCA TTTACACTAAGCTTTTGGAGCAAGAAAGAGTTTCAGGTATGCA TTTACACTAAGCTTTTGGAGCAAGAAAGAGTTTCAGGTATGCA TARGET-30-PARFWB-01A-01D TARGET-30-PARFWB-10A-01D 79960 4 129789093 129789135 89 NBL diagnosis ins C3orf58 frameshift L179fs NM_173552 30-PARGDJ C3orf58 FRAMESHIFT,TSS-UPSTREAM Ins Somatic -7 0.319 SQHIGH 3 14 17 0 28 28 Cosmic_Gene C TARGET-30-PARGDJ-01A-01D TARGET-30-PARGDJ-10A-01D 205428 3 143691710 143691710 13 NBL diagnosis del MAP3K10 frameshift V195_W199fs NM_002446 30-PARGUX MAP3K10 FRAMESHIFT Del Somatic 1 0.623 SQHIGH 10 37 47 0 79 79 Cosmic_Gene GCTGGTCAACTGG GCTGGTCAACTGG GCTGGTCAACTGG GCTGGTCAACTGG TARGET-30-PARGUX-01A-01D TARGET-30-PARGUX-10A-01D 4294 19 40698523 40698535 46 NBL diagnosis del SLC36A2 frameshift P251fs NM_181776 30-PARJXH SLC36A2 FRAMESHIFT Del Somatic PFAM:PF01490:Aa_trans -3 0.326 SQHIGH 18 46 64 2 53 55 Cosmic_Gene G G G G TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 153201 5 150712876 150712876 36 NBL diagnosis del LRRCC1 frameshift Q699fs NM_033402 30-PARJXH LRRCC1 FRAMESHIFT Del Somatic 1 0.554 SQHIGH 12 11 23 1 38 39 A A A A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 85444 8 86047209 86047209 52 NBL diagnosis ins FAM214A frameshift Y100fs NM_019600 30-PARJXH FAM214A NONSENSE Ins Somatic -3 0.432 SQHIGH 10 30 40 0 36 36 A TARGET-30-PARJXH-01A-01D TARGET-30-PARJXH-10A-01D 56204 15 52903875 52903875 31 NBL diagnosis ins TEX38 frameshift P146fs NM_001145474 30-PARKGJ ATPAF1-AS1|LOC100130197|ATPAF1 FRAMESHIFT|TSS-UPSTREAM|TSS-UPSTREAM Ins Somatic -6 0.311 SQHIGH 6 40 46 0 30 30 T TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 374973|100130197|64756 1 47138945 47138945 14 NBL diagnosis del SLC36A2 frameshift P251fs NM_181776 30-PARKGJ SLC36A2 FRAMESHIFT Del Somatic PFAM:PF01490:Aa_trans 0 0.497 SQHIGH 20 57 77 0 35 35 Cosmic_Gene G G G G TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 153201 5 150712876 150712876 36 NBL diagnosis del LRRCC1 frameshift Q699fs NM_033402 30-PARKGJ LRRCC1 FRAMESHIFT Del Somatic -2 0.387 SQHIGH 11 7 18 0 26 26 A A A A TARGET-30-PARKGJ-01A-01D TARGET-30-PARKGJ-10A-01D 85444 8 86047209 86047209 54 NBL diagnosis del FBXO9 frameshift R396_F397fs NM_012347 30-PARMFA FBXO9 FRAMESHIFT Del Somatic 5 0.951 SQHIGH 14 33 47 0 48 48 Cosmic_Gene AGGT AGGT AGGT AGGT TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 26268 6 52960413 52960416 48 NBL diagnosis del CACNA1A frameshift G186fs NM_001127221 30-PARMFA CACNA1A FRAMESHIFT Del Somatic PFAM:PF00520:Ion_trans 4 0.843 SQHIGH 24 49 73 0 69 69 Cosmic_Gene C C C C TARGET-30-PARMFA-01A-01D TARGET-30-PARMFA-10A-01D 773 19 13482575 13482575 79 NBL diagnosis ins BSN frameshift S1414fs NM_003458 30-PARMTT BSN FRAMESHIFT Ins Somatic -9 0.203 SQHIGH 7 25 32 3 47 50 Cosmic_Gene CCACAGC TARGET-30-PARMTT-01A-01D TARGET-30-PARMTT-10A-01D 8927 3 49691229 49691229 14 NBL diagnosis del ITSN1 frameshift K1686_K1687fs NM_003024 30-PARNCW ITSN1 FRAMESHIFT Del Somatic -6 0.305 SQHIGH 8 58 66 1 69 71 Cosmic_Gene AAGA AAGA AAGA AAGA TARGET-30-PARNCW-01A-01D TARGET-30-PARNCW-10A-01D 6453 21 35260494 35260497 19 NBL diagnosis del PBX1 frameshift T54_D55fs NM_002585 30-PARNEE PBX1 FRAMESHIFT Del Somatic PFAM:PF03792:PBC -1 0.436 SQHIGH 12 28 40 0 44 44 Cosmic_Gene CAGAC CAGAC CAGAC CAGAC TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 5087 1 164529220 164529224 43 NBL diagnosis ins CTCF splice P667_E11splice NM_006565 30-PARNEE CTCF DONOR Ins Somatic 2 0.747 SQHIGH 10 17 27 1 26 27 Cosmic_Gene T TARGET-30-PARNEE-01A-01D TARGET-30-PARNEE-10A-01D 10664 16 67670755 67670755 26 NBL diagnosis del CAD frameshift D861fs NM_004341 30-PARNNC CAD FRAMESHIFT Del Somatic PFAM:PF02787:CPSase_L_D3 -5 0.334 SQHIGH 4 19 23 0 26 26 Cosmic_Gene C C C C TARGET-30-PARNNC-01A-01D TARGET-30-PARNNC-10A-01D 790 2 27455030 27455030 14 NBL diagnosis del TRO frameshift N974_A977fs NM_001039705 30-PARSRJ TRO INTRON,FRAMESHIFT Del Somatic 3 0.754 SQHIGH 11 4 15 0 24 24 Cosmic_Gene ACACCAGTGCC ACACCAGTGCC TARGET-30-PARSRJ-01A-01D TARGET-30-PARSRJ-10A-01D 7216 X 54956078 54956088 61 NBL diagnosis ins TAS1R1 frameshift T188fs NM_138697 30-PARUXY TAS1R1 INTRON,NONSENSE Ins Somatic PFAM:PF01094:ANF_receptor -5 0.394 SQHIGH 6 25 31 0 21 21 Cosmic_Gene ATCCCCAATG TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 80835 1 6634756 6634756 14 NBL diagnosis ins CDC23 frameshift V12fs NM_004661 30-PARUXY CDC23 FRAMESHIFT Ins Somatic -1 0.606 SQHIGH 12 85 97 2 158 160 G TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 8697 5 137548967 137548967 36 NBL diagnosis ins GABPB1 frameshift T386fs NM_005254 30-PARUXY GABPB1 FRAMESHIFT Ins Somatic -5 0.394 SQHIGH 3 22 25 1 75 76 Cosmic_Gene C TARGET-30-PARUXY-01A-01D TARGET-30-PARUXY-10A-01D 2553 15 50570859 50570859 13 NBL diagnosis ins SLIT2 frameshift L339fs NM_004787 30-PARYNK SLIT2 FRAMESHIFT Ins Somatic -7 0.286 SQHIGH 10 15 25 0 20 20 Cosmic_Gene T TARGET-30-PARYNK-01A-01D TARGET-30-PARYNK-10A-01D 9353 4 20512717 20512717 30 NBL diagnosis del PLEKHF1 frameshift E251fs NM_024310 30-PARZIP PLEKHF1 FRAMESHIFT Del Somatic 0 0.542 SQHIGH 18 55 73 1 50 51 G G G G TARGET-30-PARZIP-01A-01D TARGET-30-PARZIP-10A-01D 79156 19 30165497 30165497 36 NBL diagnosis del BAIAP3 proteinDel T1111_N1112>T NM_003933 30-PASATK BAIAP3|GNPTG DELETE|TSS-UPSTREAM Del Somatic 3 0.774 SQHIGH 22 26 48 0 41 41 Cosmic_Gene CAA CAA CAA CAA TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 8938|84572 16 1398175 1398177 72 NBL diagnosis ins ORAI3 frameshift F111fs NM_152288 30-PASATK SETD1A|ORAI3 TSS-UPSTREAM|FRAMESHIFT Ins Somatic PFAM:PF07856:Orai-1 -10 0.189 SQHIGH 10 55 65 1 46 47 Cosmic_Gene G TARGET-30-PASATK-01A-01D TARGET-30-PASATK-10A-01D 9739|93129 16 30964609 30964609 18 NBL diagnosis ins PYHIN1 frameshift R139fs NM_152501 30-PASCKI PYHIN1 FRAMESHIFT Ins Somatic -1 0.659 SQHIGH 15 31 46 1 31 32 Cosmic_Gene A TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 149628 1 158908874 158908874 Somatic Illumina 30 31193 11785 43856 37247 104 38054 NBL diagnosis del LENG8 frameshift T373fs NM_052925 30-PASCKI LENG8 FRAMESHIFT Del Somatic -5 0.263 SQHIGH 6 15 21 0 18 18 Cosmic_Gene A A A A TARGET-30-PASCKI-01A-01D TARGET-30-PASCKI-10A-01D 114823 19 54967237 54967237 18 NBL diagnosis ins POLR2C frameshift M1fs NM_032940 30-PASCTR POLR2C MISSTART Ins Somatic -8 0.232 SQHIGH 5 16 21 0 17 17 CA TARGET-30-PASCTR-01A-01D TARGET-30-PASCTR-10A-01D 5432 16 57496638 57496638 14 NBL diagnosis ins NAPB frameshift D150fs NM_022080 30-PASCUF NAPB FRAMESHIFT Ins Somatic -5 0.387 SQHIGH 4 22 26 0 41 41 Cosmic_Gene C TARGET-30-PASCUF-01A-01D TARGET-30-PASCUF-10A-01D 63908 20 23370871 23370871 17 NBL diagnosis del LAMC1 frameshift G217fs NM_002293 30-PASGAP LAMC1 FRAMESHIFT Del Somatic PFAM:PF00055:Laminin_N -7 0.280 SQHIGH 5 40 46 0 38 40 Cosmic_Gene G G G G TARGET-30-PASGAP-01A-01D TARGET-30-PASGAP-10A-01D 3915 1 183072693 183072693 14 NBL relapse del SETD2 frameshift L627_K629fs NM_014159 30-PASGAP SETD2 NONSENSE Del Somatic -4 0.360 SQHIGH 18 32 50 0 56 56 Cosmic_Gene CTTTTTTA CTTTTTTA CTTTTTTA CTTTTTTA TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 29072 3 47164239 47164246 67 NBL relapse del ARSJ frameshift G490fs NM_024590 30-PASGAP ARSJ FRAMESHIFT Del Somatic -1 0.501 SQHIGH 21 37 58 0 58 58 Cosmic_Gene G G G G TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 79642 4 114823760 114823760 73 NBL relapse del PNPLA1 frameshift A367_V372fs NM_173676 30-PASGAP PNPLA1 FRAMESHIFT Del Somatic -2 0.433 SQHIGH 18 35 53 0 57 57 Cosmic_Gene TGTAGCTCTTCTTG TGTAGCTCTTCTTG TGTAGCTCTTCTTG TGTAGCTCTTCTTG TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 285848 6 36274070 36274083 65 NBL relapse ins ABCA6 nonsense L1413>LFLCRN* NM_080284 30-PASGAP ABCA6 NONSENSE Ins Somatic 0 0.676 SQHIGH 11 30 41 0 22 22 Cosmic_Gene TAATTTCTGCACAGGAA TARGET-30-PASGAP-02A-01D TARGET-30-PASGAP-10A-01D 23460 17 67080593 67080593 23 NBL diagnosis del OR2L8 proteinDel A230_K235del NM_001001963 30-PASGUT OR2L8|OR2L13 DELETE|INTRON Del Somatic PFAM:PF00001:7tm_1 5 0.993 SQHIGH 39 54 98 0 67 75 Cosmic_Gene GCAGAAGGGAGGAAGAAA GCAGAAGGGAGGAAGAAA GCAGAAGGGAGGAAGAAA GCAGAAGGGAGGAAGAAA TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 391190|284521 1 248112847 248112864 111 NBL diagnosis del FUBP3 proteinDel P396del NM_003934 30-PASGUT FUBP3 DELETE Del Somatic -8 0.259 SQHIGH 3 26 29 0 48 48 Cosmic_Gene CCC CCC CCC CCC TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 8939 9 133506083 133506085 13 NBL diagnosis del PRPF40B frameshift L293fs NM_001031698 30-PASGUT PRPF40B FRAMESHIFT Del Somatic 0 0.536 SQHIGH 7 32 39 1 42 43 Cosmic_Gene CT CT CT CT TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 25766 12 50028179 50028180 17 NBL diagnosis del RPS27L splice G39_E3splice NM_015920 30-PASGUT RPS27L ACCEPTOR Del Somatic -9 0.248 SQHIGH 7 10 17 0 10 10 A A A A TARGET-30-PASGUT-01A-01D TARGET-30-PASGUT-10A-01D 51065 15 63447933 63447933 17 NBL relapse del GBP5 frameshift Q502fs NM_052942 30-PASHFA GBP5 FRAMESHIFT Del Somatic PFAM:PF02841:GBP_C 0 0.549 SQHIGH 10 14 24 0 38 38 Cosmic_Gene G G G G TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 115362 1 89728046 89728046 47 NBL relapse del SMARCA5 frameshift R272fs NM_003601 30-PASHFA SMARCA5 FRAMESHIFT Del Somatic PFAM:PF00176:SNF2_N -8 0.296 SQHIGH 7 14 21 0 31 31 Cosmic_Gene AG AG AG AG TARGET-30-PASHFA-02A-01D TARGET-30-PASHFA-10A-01D 8467 4 144449033 144449034 31 NBL diagnosis ins MAML2 frameshift H452fs NM_032427 30-PASJYB MAML2 FRAMESHIFT Ins Somatic -9 0.201 SQHIGH 7 10 17 0 19 19 Cosmic_Gene C TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 84441 11 95825839 95825839 26 NBL diagnosis del MAML2 frameshift Q451fs NM_032427 30-PASJYB MAML2 FRAMESHIFT Del Somatic -7 0.291 SQHIGH 5 17 22 0 21 21 Cosmic_Gene G G G G TARGET-30-PASJYB-01A-01D TARGET-30-PASJYB-10A-01D 84441 11 95825844 95825844 16 NBL diagnosis del GPR156 splice G233_E7splice NM_153002 30-PASKJX GPR156 ACCEPTOR Del Somatic -1 0.435 SQHIGH 12 10 22 1 21 22 Cosmic_Gene G G G G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 165829 3 119900211 119900211 35 NBL diagnosis del FETUB frameshift S143fs NM_014375 30-PASKJX FETUB FRAMESHIFT Del Somatic -8 0.294 SQHIGH 17 31 48 1 43 44 Cosmic_Gene A A A A TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 26998 3 186362544 186362544 45 NBL diagnosis del ZMAT2 splice_region G6_E1splice_region NM_144723 30-PASKJX ZMAT2 DONOR Del Somatic 3 0.745 SQHIGH 22 44 66 0 89 89 TGT TGT TGT TGT TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 153527 5 140080069 140080071 92 NBL diagnosis del KIAA1919 frameshift I199fs NM_153369 30-PASKJX KIAA1919 FRAMESHIFT Del Somatic PFAM:PF07690:MFS_1 -9 0.282 SQHIGH 15 30 45 2 33 35 Cosmic_Gene T T T T TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 91749 6 111587361 111587361 26 NBL diagnosis ins LMTK2 frameshift T181fs NM_014916 30-PASKJX LMTK2 FRAMESHIFT Ins Somatic -10 0.188 SQHIGH 16 45 61 0 28 28 Cosmic_Gene T TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 22853 7 97784161 97784161 29 NBL diagnosis del PLK1 proteinDel E96_K97>E NM_005030 30-PASKJX PLK1 DELETE Del Somatic 4 0.860 SQHIGH 36 51 87 1 81 82 Cosmic_Gene AGA AGA AGA AGA TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 5347 16 23690540 23690542 110 NBL diagnosis ins SREBF1 frameshift P1129fs NM_001005291 30-PASKJX SREBF1 FRAMESHIFT Ins Somatic 2 0.735 SQHIGH 17 38 55 0 51 51 Cosmic_Gene G TARGET-30-PASKJX-01A-01D TARGET-30-PASKJX-10A-01D 6720 17 17716082 17716082 55 NBL diagnosis ins CDC23 frameshift V12fs NM_004661 30-PASMDM CDC23 FRAMESHIFT Ins Somatic -7 0.319 SQHIGH 15 67 82 1 57 58 G TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 8697 5 137548967 137548967 28 NBL diagnosis ins ARHGEF37 frameshift L412fs NM_001001669 30-PASMDM ARHGEF37 FRAMESHIFT Ins Somatic -3 0.497 SQHIGH 13 54 67 1 50 51 G TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 389337 5 149001525 149001525 26 NBL diagnosis del CPNE5 splice_region T135_E6splice_region NM_020939 30-PASMDM CPNE5 INTRON Del Somatic 0 0.552 SQHIGH 8 50 58 0 38 38 Cosmic_Gene GAC GAC GAC GAC TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 57699 6 36765933 36765935 18 NBL diagnosis ins MCM4 proteinIns P626>PK NM_005914 30-PASMDM MCM4 INSERT Ins Somatic PFAM:PF00485:PRK -9 0.208 SQHIGH 8 29 37 1 33 34 Cosmic_Gene AAA TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 4173 8 48883978 48883978 17 NBL diagnosis del MFSD6L frameshift S83_L84fs NM_152599 30-PASMDM MFSD6L FRAMESHIFT Del Somatic -5 0.332 SQHIGH 26 38 64 0 16 16 Cosmic_Gene GG GG GG GG TARGET-30-PASMDM-01A-01D TARGET-30-PASMDM-10A-01D 162387 17 8702189 8702190 31 NBL diagnosis del ASPH frameshift E516fs NM_004318 30-PASNEF ASPH FRAMESHIFT Del Somatic -9 0.280 SQHIGH 4 25 29 0 39 39 Cosmic_Gene T T T T TARGET-30-PASNEF-01A-01D TARGET-30-PASNEF-10A-01D 444 8 62465668 62465668 15 NBL diagnosis ins ACTG1P4 EXON E2_exon NM_020978 30-PASNML LOC648740|AMY2B UTR|INTRON Ins Somatic -9 0.205 SQHIGH 4 15 19 0 24 24 T TARGET-30-PASNML-01A-01D TARGET-30-PASNML-10A-01D 648740|280 1 104113637 104113637 15 NBL relapse ins SPEF2 frameshift Q182fs NM_024867 30-PASNPG SPEF2 FRAMESHIFT Ins Somatic -8 0.299 SQHIGH 4 25 29 0 34 34 Cosmic_Gene A TARGET-30-PASNPG-02A-01D TARGET-30-PASNPG-10A-01D 79925 5 35644586 35644586 14 NBL diagnosis del OR5B17 frameshift L152fs NM_001005489 30-PASNZU OR5B17 NONSENSE Del Somatic PFAM:PF00001:7tm_1 -2 0.403 SQHIGH 27 23 50 0 57 57 Cosmic_Gene G G G G TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 219965 11 58126089 58126089 112 NBL diagnosis ins LOC100506551 EXON E6_exon NM_153348 30-PASNZU LOC100506551|FBXW8 UTR|INTRON Ins Somatic -3 0.464 SQHIGH 15 28 43 3 37 40 Cosmic_Gene A TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 100506551|26259 12 117424446 117424446 26 NBL diagnosis del HOXB1 frameshift G135_G145fs NM_002144 30-PASNZU HOXB1 FRAMESHIFT Del Somatic -1 0.474 SQHIGH 33 44 77 0 81 83 Cosmic_Gene CCCATAAGGGGGATGCTGCGGAGGATATGGC CCCATAAGGGGGATGCTGCGGAGGATATGGC CCCATAAGGGGGATGCTGCGGAGGATATGGC CCCATAAGGGGGATGCTGCGGAGGATATGGC TARGET-30-PASNZU-01A-01D TARGET-30-PASNZU-10A-01D 3211 17 46607832 46607862 123 NBL diagnosis ins RP1L1 frameshift L1072fs NM_178857 30-PASPBZ RP1L1 FRAMESHIFT Ins Somatic -10 0.188 SQHIGH 5 10 15 0 17 17 Cosmic_Gene GC TARGET-30-PASPBZ-01A-01D TARGET-30-PASPBZ-10A-01D 94137 8 10468391 10468391 18 NBL diagnosis ins URB2 frameshift M576fs NM_014777 30-PASREY URB2 FRAMESHIFT Ins Somatic -6 0.350 SQHIGH 5 34 39 0 26 26 Cosmic_Gene G TARGET-30-PASREY-01A-01D TARGET-30-PASREY-10A-01D 9816 1 229772087 229772087 12 NBL diagnosis ins CDC23 frameshift V12fs NM_004661 30-PASRFS CDC23 FRAMESHIFT Ins Somatic 1 0.677 SQHIGH 12 44 56 0 39 39 G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 8697 5 137548967 137548967 30 NBL diagnosis del PLEKHG3 frameshift V966fs NM_015549 30-PASRFS PLEKHG3 FRAMESHIFT Del Somatic -2 0.396 SQHIGH 5 19 24 0 22 22 Cosmic_Gene G G G G TARGET-30-PASRFS-01A-01D TARGET-30-PASRFS-10A-01D 26030 14 65209825 65209825 15 NBL diagnosis ins CALML6 frameshift E18fs NM_138705 30-PASSRN CALML6 FRAMESHIFT Ins Somatic -7 0.286 SQHIGH 4 7 11 2 30 32 C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 163688 1 1847149 1847149 15 NBL diagnosis ins URB2 frameshift M576fs NM_014777 30-PASSRN URB2 FRAMESHIFT Ins Somatic -6 0.331 SQHIGH 8 22 30 0 41 41 Cosmic_Gene G TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 9816 1 229772087 229772087 33 NBL diagnosis del CBFA2T2 frameshift P290fs NM_005093 30-PASSRN CBFA2T2 FRAMESHIFT Del Somatic -2 0.433 SQHIGH 5 30 35 0 32 32 Cosmic_Gene C C C C TARGET-30-PASSRN-01A-01D TARGET-30-PASSRN-10A-01D 9139 20 32212718 32212718 15 NBL diagnosis del FOXD3 proteinDel P322_A332>P NM_012183 30-PASTCN FOXD3 DELETE Del Somatic -7 0.280 SQHIGH 8 17 25 0 40 40 CCTCGGGCGAGCTGGGCCGCAAAGCGGCCG CCTCGGGCGAGCTGGGCCGCAAAGCGGCCG CCTCGGGCGAGCTGGGCCGCAAAGCGGCCG CCTCGGGCGAGCTGGGCCGCAAAGCGGCCG TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 27022 1 63789694 63789723 37 NBL diagnosis ins ANO1 frameshift Q431fs NM_018043 30-PASTCN ANO1 FRAMESHIFT,UTR Ins Somatic PFAM:PF04547:Anoctamin 1 0.683 SQHIGH 19 48 67 0 49 49 Cosmic_Gene A TARGET-30-PASTCN-01A-01D TARGET-30-PASTCN-10A-01D 55107 11 69995848 69995848 51 NBL diagnosis del GNPAT frameshift M665_L666fs NM_014236 30-PASTKC GNPAT FRAMESHIFT Del Somatic -2 0.444 SQHIGH 14 41 55 0 29 29 Cosmic_Gene ATGC ATGC ATGC ATGC TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 8443 1 231411936 231411939 29 NBL diagnosis del PBRM1 frameshift H599fs NM_018313 30-PASTKC PBRM1 FRAMESHIFT Del Somatic 1 0.651 SQHIGH 12 7 19 0 32 32 Cosmic_Gene G G G G TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 55193 3 52651299 52651299 65 NBL diagnosis del MAN2A1 frameshift A119fs NM_002372 30-PASTKC MAN2A1 FRAMESHIFT Del Somatic -8 0.336 SQHIGH 4 25 29 0 36 36 Cosmic_Gene T T T T TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 4124 5 109049442 109049442 15 NBL diagnosis del PURG frameshift K172_D174fs NM_013357 30-PASTKC WRN|PURG TSS-UPSTREAM|FRAMESHIFT Del Somatic PFAM:PF04845:PurA PFAM:PF11680:DUF3276 2 0.722 SQHIGH 20 46 66 0 92 92 Cosmic_Gene TCTGTTTT TCTGTTTT TCTGTTTT TCTGTTTT TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 7486|29942 8 30889778 30889785 84 NBL diagnosis ins IPO4 frameshift E7fs NM_024658 30-PASTKC IPO4 FRAMESHIFT Ins Somatic -9 0.217 SQHIGH 4 6 10 0 13 13 Cosmic_Gene A TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 79711 14 24657972 24657972 16 NBL diagnosis del SLC23A2 splice_region G574_E16splice_region NM_005116 30-PASTKC SLC23A2 INTRON Del Somatic -9 0.326 SQHIGH 6 18 24 1 56 57 Cosmic_Gene C C C C TARGET-30-PASTKC-01A-01D TARGET-30-PASTKC-10A-01D 9962 20 4839927 4839927 26 NBL diagnosis ins COL11A1 frameshift E1283fs NM_001854 30-PASUCB COL11A1 FRAMESHIFT Ins Somatic -9 0.188 SQHIGH 3 6 9 0 20 20 Cosmic_Gene C TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 1301 1 103380335 103380335 16 NBL diagnosis ins C10orf10 frameshift A70fs NM_007021 30-PASUCB C10orf10|LOC100506913|RASSF4 FRAMESHIFT|UTR|INTRON Ins Somatic -2 0.528 SQHIGH 3 8 11 0 28 28 Cosmic_Gene T TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 11067|100506913|83937 10 45473268 45473268 17 NBL diagnosis del NLRP10 frameshift N600_S606fs NM_176821 30-PASUCB NLRP10 FRAMESHIFT Del Somatic -1 0.465 SQHIGH 25 49 74 0 62 62 Cosmic_Gene TTTTGACAGAAAATAAA TTTTGACAGAAAATAAA TTTTGACAGAAAATAAA TTTTGACAGAAAATAAA TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 338322 11 7981343 7981359 76 NBL diagnosis ins ATG13 frameshift H441fs NM_001142673 30-PASUCB ATG13 FRAMESHIFT Ins Somatic -2 0.528 SQHIGH 5 29 34 0 26 26 Cosmic_Gene T TARGET-30-PASUCB-01A-01D TARGET-30-PASUCB-10A-01D 9776 11 46690434 46690434 13 NBL diagnosis del CDC27 frameshift A238fs NM_001114091 30-PASUML CDC27 NONSENSE Del dbsnp.132:rs112848754 Somatic -4 0.341 SQHIGH 10 38 48 1 33 34 Cosmic_Gene A A A A TARGET-30-PASUML-01A-01D TARGET-30-PASUML-10A-01D 996 17 45234407 45234407 18 NBL diagnosis del ARPP21 frameshift P712fs NM_016300 30-PASUYG ARPP21 FRAMESHIFT Del Somatic PFAM:PF09770:PAT1 2 0.738 SQHIGH 18 17 35 2 62 64 Cosmic_Gene G G G G TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 10777 3 35833977 35833977 77 NBL diagnosis del CC2D2A frameshift D864fs NM_001080522 30-PASUYG CC2D2A FRAMESHIFT Del Somatic -4 0.362 SQHIGH 8 22 30 3 35 38 Cosmic_Gene A A A A TARGET-30-PASUYG-01A-01D TARGET-30-PASUYG-10A-01D 57545 4 15556799 15556799 14 NBL diagnosis ins ANKRD31 frameshift K1421fs NM_001164443 30-PASWIJ ANKRD31 FRAMESHIFT Ins Somatic -7 0.322 SQHIGH 9 24 33 0 25 25 T TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 256006 5 74400949 74400949 24 NBL diagnosis del DOCK1 frameshift D540fs NM_001380 30-PASWIJ DOCK1 FRAMESHIFT Del Somatic 4 0.859 SQHIGH 10 17 27 0 31 31 Cosmic_Gene G G G G TARGET-30-PASWIJ-01A-01D TARGET-30-PASWIJ-10A-01D 1793 10 128829970 128829970 38 NBL diagnosis del LRP1B proteinDel D867_D868>D NM_018557 30-PASWVY LRP1B DELETE Del Somatic -2 0.425 SQHIGH 6 23 29 1 43 44 Cosmic_Gene TCG TCG TCG TCG TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 53353 2 141751605 141751607 19 NBL diagnosis del UG0898H09 EXON E5_exon NM_173688 30-PASWVY NKAIN3|UG0898H09 INTRON|UTR Del Somatic -1 0.471 SQHIGH 10 27 37 0 37 37 G G G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 286183|643763 8 63895902 63895902 33 NBL diagnosis ins PPFIBP2 frameshift E462fs NM_003621 30-PASWVY PPFIBP2 FRAMESHIFT Ins Somatic 1 0.709 SQHIGH 12 10 22 2 20 22 Cosmic_Gene A TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 8495 11 7662718 7662718 29 NBL diagnosis del TECTA frameshift D1251fs NM_005422 30-PASWVY TECTA FRAMESHIFT Del Somatic PFAM:PF00094:VWD -10 0.271 SQHIGH 3 11 14 0 72 72 Cosmic_Gene G G G G TARGET-30-PASWVY-01A-01D TARGET-30-PASWVY-10A-01D 7007 11 121016471 121016471 24 NBL diagnosis ins CDC23 frameshift V12fs NM_004661 30-PASWYR CDC23 FRAMESHIFT Ins Somatic -7 0.266 SQHIGH 6 35 41 0 33 33 G TARGET-30-PASWYR-01A-01D TARGET-30-PASWYR-10A-01D 8697 5 137548967 137548967 16 NBL diagnosis del SPEF2 frameshift G942fs NM_024867 30-PASXHE SPEF2 FRAMESHIFT Del Somatic -1 0.492 SQHIGH 14 13 30 0 34 38 Cosmic_Gene G G G G TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 79925 5 35709208 35709208 61 NBL diagnosis del KCNQ1OT1 EXON E11_exon NM_000218 30-PASXHE KCNQ1|KCNQ1OT1 INTRON|UTR Del Somatic 2 0.725 SQHIGH 28 20 48 2 33 35 Cosmic_Gene AC AC AC AC TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 3784|10984 11 2691678 2691679 65 NBL diagnosis del BCL9L frameshift G664fs NM_182557 30-PASXHE BCL9L FRAMESHIFT Del Somatic -10 0.242 SQHIGH 6 18 24 2 49 51 Cosmic_Gene C C C C TARGET-30-PASXHE-01A-01D TARGET-30-PASXHE-10A-01D 283149 11 118772461 118772461 19 NBL diagnosis del ZNF683 frameshift Q303fs NM_001114759 30-PASXIE ZNF683 FRAMESHIFT Del Somatic -8 0.259 SQHIGH 6 24 30 2 74 76 G G G G TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 257101 1 26691130 26691130 22 NBL diagnosis ins MYO3B frameshift R1233fs NM_001083615 30-PASXIE MYO3B FRAMESHIFT Ins Somatic -7 0.251 SQHIGH 5 30 35 0 25 25 Cosmic_Gene T TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 140469 2 171508182 171508182 12 NBL diagnosis del KRTAP12-4 frameshift C46fs NM_198698 30-PASXIE TSPEAR|KRTAP12-4|KRTAP12-3 INTRON|FRAMESHIFT|TSS-UPSTREAM Del Somatic -1 0.429 SQHIGH 4 13 17 0 28 28 Cosmic_Gene C C C C TARGET-30-PASXIE-01A-01D TARGET-30-PASXIE-10A-01D 54084|386684|386683 21 46074395 46074395 18 NBL diagnosis ins ZNF660 frameshift G186fs NM_173658 30-PASXRG ZNF660 FRAMESHIFT Ins Somatic -9 0.193 SQHIGH 7 15 22 2 39 41 A TARGET-30-PASXRG-01A-01D TARGET-30-PASXRG-10A-01D 285349 3 44636242 44636242 22 NBL diagnosis ins MYH7B frameshift L794fs NM_020884 30-PASYLD MYH7B|MIR499A FRAMESHIFT|TSS-UPSTREAM Ins Somatic -9 0.191 SQHIGH 8 18 26 1 22 23 Cosmic_Gene C TARGET-30-PASYLD-01A-01D TARGET-30-PASYLD-10A-01D 57644|100616134 20 33580976 33580976 17 NBL diagnosis ins SCN2A frameshift F787fs NM_021007 30-PASYPX SCN2A FRAMESHIFT Ins Somatic -3 0.444 SQHIGH 3 12 15 0 37 37 Cosmic_Gene G TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 6326 2 166188049 166188049 17 NBL diagnosis ins TOPAZ1 frameshift K629fs NM_001145030 30-PASYPX TOPAZ1 FRAMESHIFT Ins Somatic -9 0.190 SQHIGH 12 15 27 3 31 34 Cosmic_Gene A TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 375337 3 44285882 44285882 28 NBL diagnosis del ARFRP1 proteinDel E17_Y18del NM_003224 30-PASYPX ZGPAT|ARFRP1 TSS-UPSTREAM|DELETE Del Somatic 1 0.599 SQHIGH 25 45 70 0 80 80 Cosmic_Gene GTACTC GTACTC GTACTC GTACTC TARGET-30-PASYPX-01A-01D TARGET-30-PASYPX-10A-01D 84619|10139 20 62338390 62338395 95 NBL diagnosis ins TGFBR3 proteinIns F470>FSF NM_003243 30-PASZKE TGFBR3 INSERT,UTR Ins Somatic PFAM:PF00100:Zona_pellucida 4 0.879 SQHIGH 12 26 38 1 39 40 Cosmic_Gene AAAAGA TARGET-30-PASZKE-01A-01D TARGET-30-PASZKE-10A-01D 7049 1 92185452 92185452 33 NBL diagnosis ins TGFB2-AS1 EXON E1_exon NM_001135599 30-PATCFL TGFB2 UTR5 Ins Somatic -7 0.290 SQHIGH 9 15 24 1 16 17 TG TARGET-30-PATCFL-01A-01D TARGET-30-PATCFL-10A-01D 7042 1 218518722 218518722 17 NBL diagnosis del IRF1 frameshift D286fs NM_002198 30-PATCFL C5orf56|IRF1 INTRON|FRAMESHIFT Del Somatic 0 0.534 SQHIGH 5 51 56 0 52 52 C C C C TARGET-30-PATCFL-01A-01D TARGET-30-PATCFL-10A-01D 441108|3659 5 131819765 131819765 15 NBL diagnosis ins MEX3B frameshift E132fs NM_032246 30-PATDXC MEX3B FRAMESHIFT Ins Somatic -8 0.210 SQHIGH 4 24 28 0 43 43 Cosmic_Gene T TARGET-30-PATDXC-01A-01D TARGET-30-PATDXC-10A-01D 84206 15 82336814 82336814 17 NBL diagnosis ins LRRTM4 frameshift K112fs NM_001134745 30-PATEPF LRRTM4 FRAMESHIFT Ins Somatic -7 0.290 SQHIGH 14 16 30 2 30 32 Cosmic_Gene T TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 80059 2 77746658 77746658 35 NBL diagnosis del IGSF22 frameshift E543fs NM_173588 30-PATEPF IGSF22 FRAMESHIFT Del Somatic PFAM:PF00047:ig 1 0.621 SQHIGH 16 20 36 0 60 60 Cosmic_Gene T T T T TARGET-30-PATEPF-01A-01D TARGET-30-PATEPF-10A-01D 283284 11 18736075 18736075 80 NBL diagnosis del MS4A2 frameshift R217fs NM_000139 30-PATESI MS4A2 FRAMESHIFT Del Somatic 1 0.671 SQHIGH 14 16 30 0 31 31 Cosmic_Gene C C C C TARGET-30-PATESI-01A-01D TARGET-30-PATESI-10A-01D 2206 11 59863043 59863043 52 NBL diagnosis del CREBBP splice_region Q821_E13splice_region NM_004380 30-PATHVK CREBBP DONOR Del Somatic 0 0.534 SQHIGH 16 42 58 0 57 57 Cosmic_Gene T T T T TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 1387 16 3823749 3823749 53 NBL diagnosis ins POLA1 splice_region T170_E7splice_region NM_016937 30-PATHVK POLA1 ACCEPTOR Ins Somatic -5 0.380 SQHIGH 5 9 14 0 27 27 Cosmic_Gene T TARGET-30-PATHVK-01A-01D TARGET-30-PATHVK-10A-01D 5422 X 24734472 24734472 26 NBL diagnosis ins S100A4 frameshift S32fs NM_002961 30-PATNKP S100A4|S100A5 FRAMESHIFT|TSS-UPSTREAM Ins Somatic -8 0.217 SQHIGH 9 49 59 0 44 45 A TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 6275|6276 1 153517176 153517176 23 NBL diagnosis ins KRT5 splice K257_E3splice NM_000424 30-PATNKP KRT5 ACCEPTOR Ins Somatic -9 0.186 SQHIGH 9 41 50 0 38 38 TGG TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 3852 12 52911948 52911948 24 NBL diagnosis del TTC28-AS1 EXON E15_exon NM_001145418 30-PATNKP TTC28|TTC28-AS1 INTRON|UTR Del Somatic 2 0.670 SQHIGH 13 13 26 1 45 46 C C C C TARGET-30-PATNKP-01A-01D TARGET-30-PATNKP-10A-01D 23331|284900 22 28397336 28397336 58 NBL relapse ins TCF19 splice_region G80_E2splice_region NM_007109 30-PATNKP CCHCR1|TCF19 TSS-UPSTREAM|INTRON Ins Somatic -4 0.390 SQHIGH 9 38 47 0 31 31 Cosmic_Gene T TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 54535|6941 6 31127491 31127491 21 NBL relapse del PILRB frameshift D187fs NM_178238 30-PATNKP PILRB FRAMESHIFT,UTR Del Somatic -2 0.350 SQHIGH 14 83 97 0 71 71 C C C C TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 29990 7 99957066 99957066 35 NBL relapse ins MAB21L1 frameshift H191fs NM_005584 30-PATNKP MAB21L1|NBEA FRAMESHIFT|INTRON,TSS-UPSTREAM Ins Somatic PFAM:PF03281:Mab-21 -5 0.347 SQHIGH 24 33 57 1 47 48 Cosmic_Gene G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 4081|26960 13 36049704 36049704 64 NBL relapse del RSPH14 frameshift P57fs NM_014433 30-PATNKP RSPH14 FRAMESHIFT Del Somatic -10 0.237 SQHIGH 7 28 37 1 59 61 Cosmic_Gene G G G G TARGET-30-PATNKP-02A-01D TARGET-30-PATNKP-10A-01D 27156 22 23482437 23482437 25 OS diagnosis snv PODN silent L383L NM_153703 40-0A4I9K PODN SYNONYMOUS SNP Somatic 6 0.284 SQHIGH 8 25 33 0 35 35 Cosmic_Gene G G A G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 127435 1 53544187 53544187 27 OS diagnosis snv GJA5 missense P88A NM_005266 40-0A4I9K GJA5 MISSENSE SNP Somatic PFAM:PF00029:Connexin 9 0.375 SQHIGH 12 35 47 0 55 55 Cosmic_Gene G G C G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 2702 1 147231085 147231085 44 OS diagnosis snv RC3H1 splice_region V78_E2splice_region NM_172071 40-0A4I9K RC3H1 ACCEPTOR SNP Somatic 14 0.619 SQHIGH 13 17 30 0 28 28 Cosmic_Gene G G A G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 149041 1 173953763 173953763 44 OS diagnosis snv FLVCR1 missense T46S NM_014053 40-0A4I9K FLVCR1-AS1|FLVCR1 TSS-UPSTREAM|MISSENSE SNP Somatic 5 0.244 SQHIGH 10 27 37 0 23 23 A A T A A TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 642946|28982 1 213031930 213031930 23 OS diagnosis snv PLD5 silent S242S NM_152666 40-0A4I9K PLD5 SYNONYMOUS SNP Somatic PFAM:PF09565:RE_NgoFVII -4 0.099 SQHIGH 6 20 26 0 50 50 Cosmic_Gene G G T G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 200150 1 242383299 242383299 30 OS diagnosis snv CNOT11 missense S482C NM_017546 40-0A4I9K CNOT11 MISSENSE SNP Somatic PFAM:PF10155:DUF2363 -6 0.084 SQHIGH 5 28 33 0 24 24 Cosmic_Gene A A T A A TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 55571 2 101885786 101885786 12 OS diagnosis snv SCN7A splice_region G222_E7splice_region NM_002976 40-0A4I9K SCN7A ACCEPTOR SNP Somatic 3 0.199 SQHIGH 11 46 57 0 23 23 Cosmic_Gene G G T G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 6332 2 167322505 167322505 18 OS diagnosis snv LRP2 splice_region L3879_E61splice_region NM_004525 40-0A4I9K LRP2 INTRON SNP Somatic 2 0.180 SQHIGH 15 45 60 0 52 52 Cosmic_Gene C C T C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 4036 2 170025042 170025042 45 OS diagnosis snv CYP8B1 missense D210N NM_004391 40-0A4I9K CYP8B1 MISSENSE SNP Somatic PFAM:PF00067:p450 6 0.284 SQHIGH 9 33 42 0 66 66 Cosmic_Gene C C T C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 1582 3 42916681 42916681 39 OS diagnosis snv SETD2 nonsense Q1931* NM_014159 40-0A4I9K SETD2 NONSENSE SNP Somatic 19 0.958 SQHIGH 11 9 20 0 42 42 Cosmic_Gene G G A G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 29072 3 47125479 47125479 65 OS diagnosis snv CELSR3 missense A2552S NM_001407 40-0A4I9K CELSR3|MIR4793 MISSENSE|TSS-UPSTREAM SNP Somatic 7 0.315 SQHIGH 6 14 20 1 29 30 Cosmic_Gene C C A C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 1951|100616112 3 48683019 48683019 19 OS diagnosis snv ATP10D missense N283S NM_020453 40-0A4I9K ATP10D MISSENSE SNP Somatic PFAM:PF00122:E1-E2_ATPase 4 0.222 SQHIGH 8 27 35 0 23 23 Cosmic_Gene A A G A A TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 57205 4 47537597 47537597 19 OS diagnosis snv CDH10 missense V477L NM_006727 40-0A4I9K CDH10 MISSENSE SNP Somatic 2 0.180 SQHIGH 8 19 27 0 15 15 Cosmic_Gene C C G C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 1008 5 24498593 24498593 17 OS diagnosis snv OR2B6 missense L14P NM_012367 40-0A4I9K OR2B6 MISSENSE SNP Somatic 5 0.244 SQHIGH 7 18 25 0 21 21 Cosmic_Gene T T C T T TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 26212 6 27925059 27925059 20 OS diagnosis snv TRAPPC3L missense K32N NM_001139444 40-0A4I9K FAM26D|BET3L INTRON|MISSENSE SNP Somatic PFAM:PF04051:TRAPP -1 0.133 SQHIGH 7 32 39 0 27 27 C C A C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 221301|100128327 6 116864510 116864510 17 OS diagnosis snv GPR126 missense C1199F NM_001032395 40-0A4I9K GPR126 UTR3,MISSENSE SNP Somatic -2 0.120 SQHIGH 6 24 30 0 29 29 Cosmic_Gene G G T G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 57211 6 142764579 142764579 19 OS diagnosis snv SDK1 missense T839A NM_152744 40-0A4I9K SDK1 MISSENSE SNP Somatic -4 0.099 SQHIGH 10 59 69 0 58 58 Cosmic_Gene A A G A A TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 221935 7 4056897 4056897 28 OS diagnosis snv TRA2A silent G224G NM_013293 40-0A4I9K TRA2A SYNONYMOUS SNP Somatic -36 0.002 10 26 36 1 21 22 Cosmic_Gene G G C G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 29896 7 23545855 23545855 16 OS diagnosis snv PRKAR2B missense A148V NM_002736 40-0A4I9K PRKAR2B MISSENSE SNP Somatic 7 0.315 SQHIGH 9 27 36 0 22 22 Cosmic_Gene C C T C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 5577 7 106768703 106768703 21 OS diagnosis snv SWI5 missense V42L NM_001040011 40-0A4I9K SWI5|GOLGA2 MISSENSE|TSS-UPSTREAM SNP Somatic 7 0.315 SQHIGH 19 33 52 0 55 55 Cosmic_Gene G G T G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 375757|2801 9 131038548 131038548 69 OS diagnosis snv MRGPRX4 silent S114S NM_054032 40-0A4I9K MRGPRX4 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 1 0.161 SQHIGH 14 39 53 0 52 52 Cosmic_Gene C C T C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 117196 11 18195145 18195145 46 OS diagnosis snv ROM1 missense L310H NM_000327 40-0A4I9K EML3|ROM1 TSS-UPSTREAM|MISSENSE SNP Somatic -6 0.084 SQHIGH 11 68 79 0 65 65 Cosmic_Gene T T A T T TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 256364|6094 11 62382184 62382184 30 OS diagnosis snv CASP1 missense E38K NM_033292 40-0A4I9K CASP1 INTRON,MISSENSE SNP Somatic 4 0.222 SQHIGH 12 51 63 0 49 49 Cosmic_Gene C C T C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 834 11 104905097 104905097 32 OS diagnosis snv CARD16 missense E39D NM_001017534 40-0A4I9K CARD16 MISSENSE SNP dbsnp.129:rs61739405 Somatic 7 0.315 SQHIGH 18 48 66 0 52 52 Cosmic_Gene C C G C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 114769 11 104915276 104915276 51 OS diagnosis snv VWA5A nonsense W755* NM_014622 40-0A4I9K VWA5A NONSENSE SNP Somatic -1 0.133 SQHIGH 9 42 51 0 33 33 Cosmic_Gene G G A G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 4013 11 124016054 124016054 21 OS diagnosis snv DENND5B missense L663F NM_144973 40-0A4I9K DENND5B MISSENSE SNP Somatic -5 0.091 SQHIGH 4 14 18 0 30 30 Cosmic_Gene C C G C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 160518 12 31595732 31595732 18 OS diagnosis snv TP53 missense D281N NM_000546 40-0A4I9K TP53 MISSENSE SNP Somatic -3 0.109 SQHIGH 34 15 49 0 29 29 Cosmic_Gene C C T C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 7157 17 7577097 7577097 100 OS diagnosis snv TNFRSF11A silent P595P NM_003839 40-0A4I9K TNFRSF11A SYNONYMOUS SNP Somatic 4 0.222 SQHIGH 6 13 19 0 21 21 Cosmic_Gene C C T C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 8792 18 60052201 60052201 22 OS diagnosis snv EMR1 missense N127I NM_001974 40-0A4I9K EMR1 MISSENSE SNP Somatic 0 0.147 SQHIGH 12 46 58 0 44 44 Cosmic_Gene A A T A A TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 2015 19 6897301 6897301 32 OS diagnosis snv MUC16 missense R12149H NM_024690 40-0A4I9K MUC16 MISSENSE SNP Somatic PFAM:PF01390:SEA 19 0.958 SQHIGH 17 18 35 0 31 31 Cosmic_Gene C C T C C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 94025 19 9028346 9028346 57 OS diagnosis snv MUC16 missense E7648A NM_024690 40-0A4I9K MUC16 MISSENSE SNP Somatic -8 0.070 SQHIGH 9 68 77 0 59 59 Cosmic_Gene T T G T T TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 94025 19 9064503 9064503 23 OS diagnosis snv ZNF813 missense R290H NM_001004301 40-0A4I9K ZNF813 MISSENSE SNP Somatic -3 0.109 SQHIGH 9 40 49 0 35 35 Cosmic_Gene G G A G G TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 126017 19 53994355 53994355 23 OS diagnosis snv CXorf22 missense Q287K NM_152632 40-0A4I9K CXorf22 MISSENSE SNP Somatic 8 0.344 SQHIGH 11 6 17 0 15 15 Cosmic_Gene C A C TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 170063 X 35969450 35969450 40 OS diagnosis snv GLMN silent E112E NM_053274 40-PAKFVX GLMN SYNONYMOUS SNP Somatic PFAM:PF08568:Kinetochor_Ybp2 -5 0.115 SQHIGH 7 17 24 0 14 14 Cosmic_Gene C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 11146 1 92755813 92755813 16 OS diagnosis snv CCDC185 nonsense W284* NM_152610 40-PAKFVX CCDC185 NONSENSE SNP Somatic 10 0.467 SQHIGH 6 5 11 0 25 25 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 164127 1 223567669 223567669 36 OS diagnosis snv GREB1 missense D789N NM_014668 40-PAKFVX GREB1 MISSENSE SNP Somatic -2 0.149 SQHIGH 10 32 42 0 24 24 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 9687 2 11740957 11740957 22 OS diagnosis snv OTOF missense D304Y NM_194248 40-PAKFVX OTOF MISSENSE SNP Somatic -7 0.098 SQHIGH 7 36 43 0 51 51 Cosmic_Gene C C A C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 9381 2 26712596 26712596 25 OS diagnosis snv SLC4A5 missense I1107M NM_021196 40-PAKFVX SLC4A5 MISSENSE SNP Somatic 5 0.289 SQHIGH 8 22 30 0 35 35 Cosmic_Gene T T C T T TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 57835 2 74450053 74450053 29 OS diagnosis snv SLC6A11 silent V298V NM_014229 40-PAKFVX SLC6A11 SYNONYMOUS SNP Somatic PFAM:PF00209:SNF 10 0.467 SQHIGH 17 27 44 0 76 76 Cosmic_Gene C C A C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 6538 3 10953777 10953777 84 OS diagnosis snv CASR missense V504L NM_000388 40-PAKFVX CASR MISSENSE SNP Somatic 11 0.513 SQHIGH 16 20 36 0 30 30 Cosmic_Gene G G T G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 846 3 121994791 121994791 51 OS diagnosis snv GK5 missense R154Q NM_001039547 40-PAKFVX GK5 MISSENSE,UTR SNP Somatic 3 0.238 SQHIGH 5 21 26 0 24 24 C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 256356 3 141917726 141917726 15 OS diagnosis snv LNX1-AS1 EXON E2_exon NM_001126328 40-PAKFVX LNX1 INTRON SNP Somatic -4 0.124 SQHIGH 9 26 35 0 25 25 Cosmic_Gene A A T A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 84708 4 54389217 54389217 23 OS diagnosis snv TMPRSS11F missense E83V NM_207407 40-PAKFVX TMPRSS11F MISSENSE SNP Somatic PFAM:PF01390:SEA 0 0.178 SQHIGH 8 18 26 0 26 26 Cosmic_Gene T T A T T TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 389208 4 68956275 68956275 27 OS diagnosis snv MAML3 missense P615T NM_018717 40-PAKFVX MAML3 MISSENSE SNP Somatic -1 0.163 SQHIGH 5 11 16 0 25 25 Cosmic_Gene G G T G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 55534 4 140810735 140810735 22 OS diagnosis snv MAML3 missense P614A NM_018717 40-PAKFVX MAML3 MISSENSE SNP Somatic -3 0.136 SQHIGH 5 15 20 0 30 30 Cosmic_Gene G G C G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 55534 4 140810738 140810738 21 OS diagnosis snv CLGN missense G595E NM_004362 40-PAKFVX CLGN MISSENSE SNP Somatic 3 0.238 SQHIGH 8 19 27 0 27 27 Cosmic_Gene C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 1047 4 141310427 141310427 27 OS diagnosis snv ACOT12 silent H46H NM_130767 40-PAKFVX ACOT12 SYNONYMOUS SNP Somatic 3 0.238 SQHIGH 13 33 46 0 44 44 Cosmic_Gene A A G A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 134526 5 80681635 80681635 42 OS diagnosis snv JADE2 silent F504F NM_015288 40-PAKFVX JADE2 SYNONYMOUS SNP Somatic 5 0.289 SQHIGH 17 40 57 0 42 42 C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 23338 5 133909412 133909412 46 OS diagnosis snv JADE2 missense L515M NM_015288 40-PAKFVX JADE2 MISSENSE SNP Somatic 6 0.333 SQHIGH 16 43 59 0 32 32 C C A C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 23338 5 133909443 133909443 34 OS diagnosis snv PCDHGC3 missense V2G NM_002588 40-PAKFVX PCDHGB5|PCDHGC3|PCDHGB4|PCDHGA6|PCDHGB7|PCDHGB2|PCDHGA10|PCDHGA8|PCDHGA3|PCDHGB3|PCDHGA4|PCDHGA11|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA12|PCDHGB6 INTRON|MISSENSE|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON SNP Somatic 6 0.333 SQHIGH 17 41 58 0 53 53 Cosmic_Gene T T G T T TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 56101|5098|8641|56109|56099|56103|56106|9708|56112|56102|56111|56105|56107|56104|56108|56113|56110|56114|26025|56100 5 140855688 140855688 54 OS diagnosis snv GPR116 missense L1027S NM_015234 40-PAKFVX GPR116 MISSENSE SNP Somatic PFAM:PF00002:7tm_2 -6 0.106 SQHIGH 11 52 63 0 67 67 Cosmic_Gene A A G A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 221395 6 46826560 46826560 37 OS diagnosis snv DST missense T2114P NM_001144769 40-PAKFVX DST MISSENSE SNP Somatic 0 0.178 SQHIGH 9 35 44 0 45 45 Cosmic_Gene T T G T T TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 667 6 56458490 56458490 30 OS diagnosis snv LAMA2 missense K1932E NM_000426 40-PAKFVX LAMA2 MISSENSE SNP Somatic 4 0.262 SQHIGH 13 16 29 0 26 26 Cosmic_Gene A A G A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 3908 6 129725033 129725033 43 OS diagnosis snv FNDC1 missense Y198C NM_032532 40-PAKFVX FNDC1 MISSENSE SNP Somatic 7 0.364 SQHIGH 10 23 33 0 49 49 Cosmic_Gene A A G A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 84624 6 159636109 159636109 44 OS diagnosis snv GPR85 missense L18P NM_001146265 40-PAKFVX GPR85 MISSENSE SNP Somatic 16 0.799 SQHIGH 16 18 34 2 43 45 Cosmic_Gene A A G A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 54329 7 112724724 112724724 51 OS diagnosis snv SSPO missense C4775F NM_198455 40-PAKFVX SSPO MISSENSE SNP Somatic -6 0.106 SQHIGH 7 12 19 0 23 23 G G T G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 23145 7 149523241 149523241 27 OS diagnosis snv CSMD3 missense L1600F NM_198123 40-PAKFVX CSMD3 MISSENSE SNP Somatic 6 0.333 SQHIGH 16 23 39 0 24 24 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 114788 8 113519017 113519017 40 OS diagnosis snv LOC101927069 EXON E14_exon NM_003558 40-PAKFVX PIP5K1B INTRON SNP Somatic 15 0.741 SQHIGH 13 25 38 0 31 31 Cosmic_Gene C C A C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 8395 9 71572004 71572004 39 OS diagnosis snv IARS missense Y283D NM_002161 40-PAKFVX IARS MISSENSE SNP Somatic 3 0.238 SQHIGH 13 44 57 0 33 33 Cosmic_Gene A A C A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 3376 9 95040192 95040192 28 OS diagnosis snv NCBP1 missense W594C NM_002486 40-PAKFVX NCBP1 MISSENSE SNP Somatic PFAM:PF09090:MIF4G_like_2 11 0.513 SQHIGH 11 22 33 0 24 24 Cosmic_Gene G G C G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 4686 9 100425314 100425314 30 OS diagnosis snv DAB2IP silent S15S NM_032552 40-PAKFVX DAB2IP SYNONYMOUS SNP Somatic 1 0.196 SQHIGH 7 16 23 1 23 24 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 153090 9 124440961 124440961 17 OS diagnosis snv CYP2C18 missense I213V NM_000772 40-PAKFVX CYP2C18 MISSENSE SNP Somatic PFAM:PF00067:p450 16 0.799 SQHIGH 42 16 58 0 41 41 Cosmic_Gene A A G A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 1562 10 96454829 96454829 143 OS diagnosis snv TMX2-CTNND1 EXON E21_exon NM_001085458 40-PAKFVX TMX2-CTNND1|CTNND1 UTR|UTR3 SNP Somatic -10 0.076 SQHIGH 74 18 92 1 42 43 Cosmic_Gene A A G A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 100528016|1500 11 57585584 57585584 187 OS diagnosis snv PATL1 missense R558K NM_152716 40-PAKFVX PATL1 MISSENSE SNP Somatic PFAM:PF09770:PAT1 3 0.238 SQHIGH 8 27 35 0 29 29 Cosmic_Gene C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 219988 11 59416995 59416995 23 OS diagnosis snv PATL1 silent K455K NM_152716 40-PAKFVX PATL1 SYNONYMOUS SNP Somatic PFAM:PF09770:PAT1 6 0.333 SQHIGH 9 27 36 0 23 23 Cosmic_Gene C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 219988 11 59419998 59419998 21 OS diagnosis snv PATL1 missense S444L NM_152716 40-PAKFVX PATL1 MISSENSE SNP Somatic PFAM:PF09770:PAT1 6 0.333 SQHIGH 12 12 24 0 13 13 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 219988 11 59420032 59420032 28 OS diagnosis snv PATL1 silent Q417Q NM_152716 40-PAKFVX PATL1 SYNONYMOUS SNP Somatic PFAM:PF09770:PAT1 5 0.289 SQHIGH 9 23 32 0 23 23 Cosmic_Gene C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 219988 11 59420362 59420362 24 OS diagnosis snv PATL1 silent Q198Q NM_152716 40-PAKFVX PATL1 SYNONYMOUS SNP Somatic PFAM:PF09770:PAT1 3 0.238 SQHIGH 7 29 36 0 29 29 Cosmic_Gene C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 219988 11 59425030 59425030 19 OS diagnosis snv PATL1 missense D165N NM_152716 40-PAKFVX PATL1 MISSENSE SNP Somatic PFAM:PF09770:PAT1 9 0.429 SQHIGH 7 22 29 0 34 34 Cosmic_Gene C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 219988 11 59425131 59425131 25 OS diagnosis snv PATL1 missense D164N NM_152716 40-PAKFVX PATL1 MISSENSE SNP Somatic PFAM:PF09770:PAT1 -2 0.149 SQHIGH 6 21 27 0 38 38 Cosmic_Gene C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 219988 11 59425134 59425134 24 OS diagnosis snv PPP1R32 missense R149K NM_145017 40-PAKFVX PPP1R32 MISSENSE SNP Somatic -1 0.163 SQHIGH 7 27 34 0 39 39 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 220004 11 61252224 61252224 25 OS diagnosis snv PPP1R32 splice_region K316_E10splice_region NM_145017 40-PAKFVX PPP1R32 DONOR SNP Somatic 0 0.178 SQHIGH 11 51 62 0 69 69 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 220004 11 61254536 61254536 38 OS diagnosis snv GRM5 missense K56T NM_001143831 40-PAKFVX GRM5 MISSENSE SNP Somatic 20 1.000 SQHIGH 16 20 36 0 47 47 Cosmic_Gene T T G T T TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 2915 11 88780874 88780874 68 OS diagnosis snv OR10G9 missense F256L NM_001001953 40-PAKFVX OR10G9 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.289 SQHIGH 11 26 37 0 47 47 Cosmic_Gene C C A C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 219870 11 123894487 123894487 43 OS diagnosis snv CCNT1 silent A412A NM_001240 40-PAKFVX CCNT1|LOC144438 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 15 0.741 SQHIGH 38 12 50 0 55 55 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 904|144438 12 49087761 49087761 177 OS diagnosis snv LOC100335030 EXON E2_exon NM_023071 40-PAKFVX SPATS2|LOC100335030 INTRON|UTR SNP Somatic 6 0.333 SQHIGH 6 13 19 0 20 20 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 65244|100335030 12 49783674 49783674 21 OS diagnosis snv LOC100335030 EXON E2_exon NM_023071 40-PAKFVX SPATS2|LOC100335030 INTRON|UTR SNP Somatic 1 0.196 SQHIGH 6 18 24 0 23 23 Cosmic_Gene A A G A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 65244|100335030 12 49783677 49783677 19 OS diagnosis snv ANKRD52 splice_region E87_E4splice_region NM_173595 40-PAKFVX ANKRD52 INTRON SNP Somatic 2 0.216 SQHIGH 9 35 44 0 47 47 Cosmic_Gene T T C T T TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 283373 12 56650792 56650792 30 OS diagnosis snv FLT3 missense F298V NM_004119 40-PAKFVX FLT3 MISSENSE SNP Somatic PFAM:PF00047:ig 5 0.289 SQHIGH 13 26 39 0 49 49 Cosmic_Gene A A C A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 2322 13 28623665 28623665 52 OS diagnosis snv DCAF5 silent L444L NM_003861 40-PAKFVX DCAF5 SYNONYMOUS SNP Somatic 8 0.395 SQHIGH 11 23 34 1 29 30 Cosmic_Gene G G C G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 8816 14 69522071 69522071 26 OS diagnosis snv GALNT16 missense K349T NM_001168368 40-PAKFVX GALNT16 MISSENSE SNP Somatic -4 0.124 SQHIGH 9 34 43 0 77 77 Cosmic_Gene A A C A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 57452 14 69805446 69805446 43 OS diagnosis snv TMEM63C silent S530S NM_020431 40-PAKFVX TMEM63C SYNONYMOUS SNP Somatic PFAM:PF02714:DUF221 -1 0.163 SQHIGH 17 32 49 0 52 52 C C T C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 57156 14 77713006 77713006 61 OS diagnosis snv ITGAL missense L805P NM_002209 40-PAKFVX ITGAL MISSENSE SNP Somatic PFAM:PF08441:Integrin_alpha2 4 0.262 SQHIGH 5 14 19 0 40 40 Cosmic_Gene T T C T T TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 3683 16 30518083 30518083 26 OS diagnosis snv DNAH2 silent T2608T NM_020877 40-PAKFVX DNAH2 SYNONYMOUS SNP Somatic 7 0.364 SQHIGH 8 14 22 0 39 39 Cosmic_Gene C C A C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 146754 17 7699931 7699931 40 OS diagnosis snv MED24 splice T951T NM_014815 40-PAKFVX MED24 SYNONYMOUS SNP dbsnp.134:rs141013830 Somatic PFAM:PF11277:Med24_N 5 0.289 SQHIGH 6 22 28 0 21 21 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 9862 17 38176038 38176038 16 OS diagnosis snv C17orf70 splice_region Q809_E7splice_region NM_025161 40-PAKFVX C17orf70 INTRON SNP Somatic 4 0.262 SQHIGH 11 21 32 0 44 44 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 80233 17 79511023 79511023 46 OS diagnosis snv LAMA1 missense T1987I NM_005559 40-PAKFVX LAMA1 MISSENSE SNP dbsnp.132:rs117303816 Somatic 1 0.196 SQHIGH 12 48 60 0 37 37 Cosmic_Gene G G A G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 284217 18 6980567 6980567 27 OS diagnosis snv ASXL3 nonsense E854* NM_030632 40-PAKFVX ASXL3 NONSENSE SNP Somatic 12 0.563 SQHIGH 14 18 32 1 25 26 Cosmic_Gene G G T G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 80816 18 31319928 31319928 34 OS diagnosis snv CCDC102B missense T195K NM_001093729 40-PAKFVX CCDC102B MISSENSE SNP Somatic 13 0.615 SQHIGH 18 24 42 0 51 51 Cosmic_Gene C C A C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 79839 18 66504584 66504584 73 OS diagnosis snv MUC16 silent T722T NM_024690 40-PAKFVX MUC16 SYNONYMOUS SNP Somatic 13 0.615 SQHIGH 14 25 39 0 75 75 Cosmic_Gene G G T G G TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 94025 19 9089649 9089649 73 OS diagnosis snv COMP missense C328F NM_000095 40-PAKFVX COMP MISSENSE SNP Somatic -9 0.083 SQHIGH 8 8 16 0 10 10 C C A C C TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 1311 19 18898452 18898452 21 OS diagnosis snv GLTSCR1 missense I351T NM_015711 40-PAKFVX GLTSCR1 MISSENSE SNP Somatic -10 0.076 SQHIGH 5 13 18 0 32 32 Cosmic_Gene T T C T T TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 29998 19 48183479 48183479 24 OS diagnosis snv ZNF665 silent N302N NM_024733 40-PAKFVX ZNF665 SYNONYMOUS SNP Somatic 8 0.395 SQHIGH 13 33 46 0 50 50 Cosmic_Gene A A G A A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 79788 19 53668837 53668837 46 OS diagnosis snv GPR50 silent V592V NM_004224 40-PAKFVX GPR50 SYNONYMOUS SNP Somatic PFAM:PF05109:Herpes_BLLF1 13 0.615 SQHIGH 8 2 10 1 21 22 Cosmic_Gene A G A TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 9248 X 150349831 150349831 44 OS diagnosis mnv ATAD5 missense K922T NM_024857 40-PAKFVX ATAD5 MISSENSE Sub Somatic -10 0.273 SQHIGH 4 11 15 0 24 24 Cosmic_Gene AG AG CA AG AG TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 79915 17 29184102 29184103 18 OS diagnosis snv PCSK9 missense S373R NM_174936 40-PALFYN PCSK9 MISSENSE SNP Somatic -6 0.100 SQHIGH 8 26 34 1 33 34 Cosmic_Gene C C A C C TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 255738 1 55523126 55523126 19 OS diagnosis snv RMDN2 missense R400L NM_144713 40-PALFYN RMDN2 MISSENSE SNP Somatic -5 0.110 SQHIGH 11 66 77 1 63 64 Cosmic_Gene G G T G G TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 151393 2 38202392 38202392 22 OS diagnosis snv CNTNAP5 splice G1072_E19splice NM_130773 40-PALFYN CNTNAP5 MISSENSE SNP Somatic 4 0.319 SQHIGH 13 33 46 0 38 38 Cosmic_Gene G G A G G TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 129684 2 125555897 125555897 Somatic Illumina 38 80545 18929 99487 105329 54 105403 OS diagnosis snv GALNT3 missense R54K NM_004482 40-PALFYN GALNT3 MISSENSE SNP Somatic 5 0.359 SQHIGH 12 25 37 0 25 25 Cosmic_Gene C C T C C TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 2591 2 166627050 166627050 Somatic Illumina 31 55005 35894 90906 88246 36 88294 OS diagnosis snv PBRM1 missense R678C NM_018313 40-PALFYN PBRM1 MISSENSE SNP Somatic 15 0.850 SQHIGH 17 16 33 0 32 32 Cosmic_Gene G G A G G TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 55193 3 52643864 52643864 Somatic Illumina 62 79568 113435 193162 192996 94 193216 OS diagnosis snv IGF2R missense K2034E NM_000876 40-PALFYN IGF2R MISSENSE SNP Somatic PFAM:PF00878:CIMR -3 0.137 SQHIGH 13 31 44 1 36 37 Cosmic_Gene A A G A A TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 3482 6 160506058 160506058 Somatic Illumina 30 59221 20428 79674 83731 29 83796 OS diagnosis snv KSR2 missense P245L NM_173598 40-PALFYN KSR2 MISSENSE SNP Somatic -7 0.090 SQHIGH 12 30 42 0 29 29 Cosmic_Gene G G A G G TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 283455 12 118198981 118198981 Somatic Illumina 31 75038 17630 92670 93264 60 93326 OS diagnosis snv PRKD1 missense L406V NM_002742 40-PALFYN PRKD1 MISSENSE SNP Somatic 8 0.511 SQHIGH 25 52 77 0 53 53 Cosmic_Gene G G C G G TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 5587 14 30103722 30103722 Somatic Illumina 65 178271 58863 237201 231758 114 231946 OS diagnosis snv RPL10L missense K141N NM_080746 40-PALFYN RPL10L MISSENSE SNP Somatic -3 0.137 SQHIGH 24 34 58 0 31 31 Cosmic_Gene C C A C C TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 140801 14 47120517 47120517 Somatic Illumina 54 97216 67816 165144 172023 12 172085 OS diagnosis snv POLG missense G179V NM_002693 40-PALFYN POLG|LOC100506983 MISSENSE|TSS-UPSTREAM SNP Somatic -10 0.066 SQHIGH 21 11 32 0 21 21 Cosmic_Gene C C A C C TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 5428|100506983 15 89876450 89876450 Somatic Illumina 64 24947 25025 50083 64434 5 64486 OS diagnosis snv MLLT1 silent R16R NM_005934 40-PALFYN MLLT1 SYNONYMOUS SNP Somatic 3 0.282 SQHIGH 13 11 24 1 26 27 Cosmic_Gene G G A G G TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 4298 19 6270735 6270735 Somatic Illumina 43 73851 51884 125754 120299 58 120366 OS diagnosis snv LTN1 silent L974L NM_015565 40-PALFYN LTN1 SYNONYMOUS SNP Somatic 6 0.427 SQHIGH 27 36 63 0 43 43 Cosmic_Gene T T C T T TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 26046 21 30329762 30329762 Somatic Illumina 74 32377 19701 52082 50004 23 50027 OS diagnosis snv NEUROD1 silent N47N NM_002500 40-PALHRL NEUROD1 SYNONYMOUS SNP Somatic 17 0.853 SQHIGH 26 20 47 0 53 53 Cosmic_Gene G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 4760 2 182543447 182543447 110 OS diagnosis snv ITIH1 missense R554H NM_002215 40-PALHRL ITIH1 MISSENSE SNP Somatic 13 0.589 SQHIGH 23 8 31 1 45 46 Cosmic_Gene G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 3697 3 52820378 52820378 Somatic Illumina 112 5339 17179 22522 37693 18 37722 OS diagnosis snv TAF9 silent T65T NM_003187 40-PALHRL RAD17|TAF9 TSS-UPSTREAM|SYNONYMOUS,INTRON SNP Somatic -5 0.121 SQHIGH 39 25 64 2 43 45 A A G A A TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 5884|6880 5 68661370 68661370 96 OS diagnosis snv MARCH3 missense R143Q NM_178450 40-PALHRL MARCH3 MISSENSE SNP dbsnp.134:rs138413676 Somatic -8 0.095 SQHIGH 7 36 43 1 54 55 Cosmic_Gene C C T C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 115123 5 126214052 126214052 19 OS diagnosis snv DCDC2 missense G89R NM_016356 40-PALHRL DCDC2|KAAG1 MISSENSE|UTR5 SNP Somatic 13 0.589 SQHIGH 21 28 49 0 40 40 Cosmic_Gene C C T C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 51473|353219 6 24357714 24357714 TumorFP Sanger 65 0 0 0 0 0 0 OS diagnosis snv DCDC2 silent R69R NM_016356 40-PALHRL DCDC2|KAAG1 SYNONYMOUS|UTR5 SNP Somatic 14 0.657 SQHIGH 10 17 27 0 35 35 Cosmic_Gene C C T C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 51473|353219 6 24357772 24357772 41 OS diagnosis snv PRSS35 missense K199R NM_001170423 40-PALHRL PRSS35 MISSENSE SNP Somatic -10 0.081 SQHIGH 5 29 34 1 53 54 Cosmic_Gene A A G A A TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 167681 6 84233756 84233756 15 OS diagnosis snv MTMR7 missense L388P NM_004686 40-PALHRL MTMR7 MISSENSE SNP Somatic PFAM:PF03162:Y_phosphatase2 4 0.265 SQHIGH 11 31 42 0 24 24 Cosmic_Gene A A G A A TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 9108 8 17163455 17163455 Somatic Illumina 24 40915 13019 54037 65624 74 65822 OS diagnosis snv INTS9 silent L507L NM_018250 40-PALHRL INTS9 SYNONYMOUS,UTR SNP Somatic 2 0.224 SQHIGH 10 23 33 0 44 44 Cosmic_Gene G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 55756 8 28633320 28633320 41 OS diagnosis snv CYP11B1 missense L18R NM_000497 40-PALHRL CYP11B1 MISSENSE SNP Somatic 4 0.265 SQHIGH 10 22 32 0 41 41 Cosmic_Gene A A C A A TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 1584 8 143961177 143961177 Somatic Illumina 40 114123 29162 143532 178787 109 179199 OS diagnosis snv GLDC missense E542K NM_000170 40-PALHRL GLDC MISSENSE SNP Somatic -8 0.095 SQHIGH 7 41 48 0 44 44 Cosmic_Gene C C T C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 2731 9 6588659 6588659 21 OS diagnosis snv PRKACG missense E122D NM_002732 40-PALHRL PRKACG MISSENSE SNP Somatic 15 0.721 SQHIGH 15 16 31 0 29 29 Cosmic_Gene C C A C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 5568 9 71628643 71628643 Somatic Illumina 52 38240 41628 79946 100324 83 100460 OS diagnosis snv SEC24C silent V743V NM_004922 40-PALHRL SEC24C|FUT11 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 4 0.265 SQHIGH 11 37 48 0 50 50 Cosmic_Gene C C A C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 9632|170384 10 75528615 75528615 37 OS diagnosis snv FUT11 silent F89F NM_173540 40-PALHRL FUT11 SYNONYMOUS SNP Somatic PFAM:PF00852:Glyco_transf_10 13 0.589 SQHIGH 14 11 25 0 22 22 C C T C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 170384 10 75532358 75532358 49 OS diagnosis snv FUT11 silent L190L NM_173540 40-PALHRL FUT11 SYNONYMOUS SNP Somatic PFAM:PF00852:Glyco_transf_10 7 0.348 SQHIGH 9 15 24 0 20 20 C C T C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 170384 10 75532659 75532659 27 OS diagnosis snv PCNXL3 missense E752V NM_032223 40-PALHRL PCNXL3 MISSENSE SNP Somatic -1 0.172 SQHIGH 7 14 21 0 30 30 A A T A A TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 399909 11 65389735 65389735 Somatic Illumina 30 87005 24082 111320 168327 6 168779 OS diagnosis snv LRTM2 missense R306P NM_001039029 40-PALHRL LRTM2|CACNA2D4 MISSENSE|INTRON SNP Somatic 9 0.410 SQHIGH 13 21 34 0 35 35 Cosmic_Gene G G C G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 654429|93589 12 1943691 1943691 Somatic Illumina 46 32675 17583 50294 61365 5 61394 OS diagnosis snv OR1G1 silent V78V NM_003555 40-PALHRL OR1G1 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 12 0.535 SQHIGH 15 26 41 0 52 52 G G C G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 8390 17 3030612 3030612 61 OS diagnosis snv DNAH2 splice V2622L NM_020877 40-PALHRL DNAH2 MISSENSE SNP Somatic 10 0.444 SQHIGH 76 319 395 0 39 39 Cosmic_Gene G G T G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 146754 17 7700494 7700494 Somatic Illumina 34 116568 23235 139860 117256 46 117332 OS diagnosis snv PIK3R5 silent F175F NM_001142633 40-PALHRL PIK3R5 SYNONYMOUS SNP Somatic PFAM:PF10486:PI3K_1B_p101 1 0.204 SQHIGH 56 316 372 0 40 40 Cosmic_Gene G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 23533 17 8794187 8794187 27 OS diagnosis snv DNAH9 missense V3577M NM_001372 40-PALHRL DNAH9 TSS-UPSTREAM,MISSENSE SNP Somatic PFAM:PF12781:AAA_9 10 0.444 SQHIGH 11 8 19 0 43 43 Cosmic_Gene G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 1770 17 11784653 11784653 Somatic Illumina 68 48329 68630 116964 147941 78 148040 OS diagnosis snv MYO15A missense P394T NM_016239 40-PALHRL MYO15A MISSENSE SNP Somatic -8 0.095 SQHIGH 33 276 309 0 47 47 Cosmic_Gene C C A C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 51168 17 18023294 18023294 21 OS diagnosis snv FLII silent I1071I NM_002018 40-PALHRL FLII SYNONYMOUS SNP Somatic PFAM:PF00626:Gelsolin 11 0.487 SQHIGH 88 271 359 0 42 42 Cosmic_Gene G G T G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 2314 17 18149530 18149530 48 OS diagnosis snv FLII splice_region R1069_E25splice_region NM_002018 40-PALHRL FLII ACCEPTOR SNP Somatic 9 0.410 SQHIGH 86 277 363 0 26 26 Cosmic_Gene G G T G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 2314 17 18149541 18149541 Somatic Illumina 29 59570 19103 78723 75646 4 75676 OS diagnosis snv TRIM16L missense M46I NM_001037330 40-PALHRL TRIM16L MISSENSE SNP Somatic 1 0.204 SQHIGH 43 118 161 0 45 45 G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 147166 17 18631008 18631008 52 OS diagnosis snv TRIM16L silent E47E NM_001037330 40-PALHRL TRIM16L SYNONYMOUS SNP Somatic 4 0.265 SQHIGH 55 121 176 0 42 42 G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 147166 17 18631011 18631011 60 OS diagnosis snv TRIM16L silent K48K NM_001037330 40-PALHRL TRIM16L SYNONYMOUS SNP Somatic -1 0.172 SQHIGH 53 108 161 0 37 37 G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 147166 17 18631014 18631014 56 OS diagnosis snv ABCA8 silent I1492I NM_007168 40-PALHRL ABCA8 SYNONYMOUS SNP Somatic -1 0.172 SQHIGH 8 39 47 0 32 32 Cosmic_Gene G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 10351 17 66871436 66871436 19 OS diagnosis snv SLC17A9 missense V245I NM_022082 40-PALHRL SLC17A9 MISSENSE SNP dbsnp.134:rs151228610 Somatic 3 0.243 SQHIGH 11 29 40 0 30 30 Cosmic_Gene G G A G G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 63910 20 61594943 61594943 Somatic Illumina 30 40576 11731 52312 68425 39 68470 OS diagnosis snv SETD4 missense D47N NM_017438 40-PALHRL SETD4 MISSENSE,UTR SNP Somatic 14 0.657 SQHIGH 12 19 31 0 40 40 Cosmic_Gene C C T C C TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 54093 21 37429437 37429437 Somatic Illumina 50 75624 28463 104149 120705 25 120789 OS diagnosis snv FAM47C silent E119E NM_001013736 40-PALHRL FAM47C SYNONYMOUS SNP Somatic 13 0.589 SQHIGH 13 2 15 0 19 19 Cosmic_Gene G A G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 442444 X 37026840 37026840 69 OS diagnosis snv MTMR8 silent D343D NM_017677 40-PALHRL MTMR8 SYNONYMOUS SNP Somatic PFAM:PF03162:Y_phosphatase2 13 0.589 SQHIGH 18 0 18 0 14 14 Cosmic_Gene G A G TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 55613 X 63557220 63557220 87 OS diagnosis mnv EFR3A missense Q397_R398>HG NM_015137 40-PALHRL EFR3A MISSENSE Sub Somatic 1 0.699 SQHIGH 13 15 28 0 31 31 Cosmic_Gene GA GA TG GA GA TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 23167 8 132988305 132988306 Somatic Illumina 50 44558 31377 76217 100641 0 101015 OS diagnosis complex PTEN frameshift R130_I135fs NM_000314 40-PALHRL PTEN FRAMESHIFT Sub Somatic PFAM:PF03162:Y_phosphatase2 -8 0.313 SQHIGH 10 7 17 0 32 32 Cosmic_Gene GAACTGGTGTAATGAT GAACTGGTGTAATGAT GG GAACTGGTGTAATGAT GAACTGGTGTAATGAT TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 5728 10 89692905 89692920 56 OS diagnosis snv IPO13 missense C848R NM_014652 40-PALKDP IPO13|DPH2 MISSENSE|TSS-UPSTREAM SNP Somatic 7 0.321 SQHIGH 18 45 63 0 46 46 Cosmic_Gene T T C T T TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 9670|1802 1 44432620 44432620 Somatic Illumina 48 2868 2181 5059 4435 16 4464 OS diagnosis snv DNAJA1P5 EXON E1_exon NM_058170 40-PALKDP OLFM3|DNAJA1P5 INTRON|UTR SNP Somatic -10 0.075 SQHIGH 6 43 49 0 54 54 Cosmic_Gene C C G C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 118427|94236 1 102359127 102359127 20 OS diagnosis snv SLC6A17 missense W163S NM_001010898 40-PALKDP SLC6A17|LOC100130800 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00209:SNF -2 0.137 SQHIGH 11 32 43 0 56 56 Cosmic_Gene G G C G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 388662|100130800 1 110716638 110716638 Somatic Illumina 43 40993 11630 52641 58341 2 58365 OS diagnosis snv PARP1 silent G500G NM_001618 40-PALKDP PARP1 SYNONYMOUS SNP Somatic 1 0.178 SQHIGH 8 25 33 1 41 42 Cosmic_Gene C C T C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 142 1 226567666 226567666 23 OS diagnosis snv PARP1 silent V493V NM_001618 40-PALKDP PARP1 SYNONYMOUS SNP Somatic 1 0.178 SQHIGH 12 34 46 1 42 43 Cosmic_Gene C C T C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 142 1 226567687 226567687 29 OS diagnosis snv PARP1 silent V492V NM_001618 40-PALKDP PARP1 SYNONYMOUS SNP Somatic 3 0.213 SQHIGH 6 31 37 1 51 52 Cosmic_Gene A A G A A TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 142 1 226567690 226567690 17 OS diagnosis snv WFS1 silent L759L NM_006005 40-PALKDP WFS1 SYNONYMOUS SNP Somatic 15 0.700 SQHIGH 14 16 30 0 20 20 Cosmic_Gene C C T C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 7466 4 6303797 6303797 38 OS diagnosis snv UGT2A3 nonsense W36* NM_024743 40-PALKDP UGT2A3 NONSENSE,UTR SNP Somatic PFAM:PF00201:UDPGT 18 0.891 SQHIGH 16 22 38 0 31 31 Cosmic_Gene C C T C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 79799 4 69817371 69817371 Somatic Sanger 49 302 237 540 417 2 419 OS diagnosis snv CTNND2 silent N949N NM_001332 40-PALKDP CTNND2 SYNONYMOUS SNP Somatic 0 0.163 SQHIGH 17 2 19 0 26 26 Cosmic_Gene G G A G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 1501 5 11023033 11023033 98 OS diagnosis snv RREB1 missense S161F NM_001003699 40-PALKDP RREB1 MISSENSE SNP Somatic 19 0.938 SQHIGH 22 13 35 0 25 25 Cosmic_Gene C C T C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 6239 6 7211093 7211093 Somatic Illumina 70 10230 17718 27951 30712 7 30723 OS diagnosis snv TDP2 missense F32L NM_016614 40-PALKDP TDP2|ACOT13 MISSENSE|TSS-UPSTREAM SNP Somatic 4 0.234 SQHIGH 16 48 64 1 40 41 Cosmic_Gene A A T A A TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 51567|55856 6 24666995 24666995 Somatic Illumina 29 57457 14480 72006 74329 3 74422 OS diagnosis snv MDGA1 missense R775W NM_153487 40-PALKDP MDGA1 MISSENSE SNP Somatic 3 0.213 SQHIGH 13 42 55 0 43 43 Cosmic_Gene G G A G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 266727 6 37612351 37612351 Somatic Illumina 36 108347 53359 161814 176588 121 176725 OS diagnosis snv AKAP12 silent P1021P NM_005100 40-PALKDP AKAP12 SYNONYMOUS SNP Somatic 1 0.178 SQHIGH 10 31 41 0 49 49 Cosmic_Gene G G A G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 9590 6 151672589 151672589 37 OS diagnosis snv THBS2 missense N556I NM_003247 40-PALKDP THBS2 MISSENSE SNP Somatic -6 0.101 SQHIGH 8 48 56 0 58 58 Cosmic_Gene T T A T T TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 7058 6 169633097 169633097 26 OS diagnosis snv RIPK2 missense A28S NM_003821 40-PALKDP RIPK2 MISSENSE SNP Somatic PFAM:PF03109:ABC1 -9 0.081 SQHIGH 5 9 14 0 14 14 Cosmic_Gene G G T G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 8767 8 90770370 90770370 17 OS diagnosis snv CRTAC1 missense N364K NM_018058 40-PALKDP CRTAC1 MISSENSE SNP Somatic 6 0.282 SQHIGH 16 41 57 0 59 59 Cosmic_Gene G G T G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 55118 10 99661301 99661301 Somatic Illumina 55 66229 20873 87206 90530 3 90602 OS diagnosis snv SORCS1 missense A506V NM_052918 40-PALKDP SORCS1 MISSENSE SNP Somatic 7 0.321 SQHIGH 18 12 30 0 40 40 Cosmic_Gene G G A G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 114815 10 108447993 108447993 Somatic Illumina 84 20117 25356 45492 52013 21 52061 OS diagnosis snv TACC2 missense A2546S NM_206862 40-PALKDP TACC2 MISSENSE SNP Somatic 14 0.640 SQHIGH 10 19 29 0 25 25 Cosmic_Gene G G T G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 10579 10 123985908 123985908 Somatic Illumina 31 33350 5390 38776 46415 3 46438 OS diagnosis snv C11orf40 missense G197W NM_144663 40-PALKDP C11orf40 MISSENSE SNP dbsnp.120:rs11826422 Somatic -9 0.081 SQHIGH 6 24 30 0 51 51 Cosmic_Gene C C A C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 143501 11 4592718 4592718 27 OS diagnosis snv ALKBH8 silent Q513Q NM_138775 40-PALKDP ALKBH8 SYNONYMOUS SNP Somatic 3 0.213 SQHIGH 33 146 179 1 46 47 C C T C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 91801 11 107375840 107375840 27 OS diagnosis snv APLP2 silent G344G NM_001642 40-PALKDP APLP2 SYNONYMOUS,INTRON SNP Somatic -8 0.087 SQHIGH 11 60 71 0 44 44 Cosmic_Gene C C T C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 334 11 129993616 129993616 24 OS diagnosis snv STAB2 silent R1973R NM_017564 40-PALKDP STAB2 SYNONYMOUS SNP Somatic 10 0.422 SQHIGH 8 20 28 0 44 44 Cosmic_Gene G G C G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 55576 12 104136220 104136220 Somatic Illumina 36 121185 33988 155257 184518 5 184635 OS diagnosis snv ADCY7 missense V367M NM_001114 40-PALKDP ADCY7 MISSENSE SNP Somatic 17 0.839 SQHIGH 16 5 21 0 30 30 Cosmic_Gene G G A G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 113 16 50334648 50334648 Somatic Illumina 85 898 13856 14754 16402 6 16409 OS diagnosis snv JOSD2 missense N107I NM_138334 40-PALKDP JOSD2 MISSENSE SNP Somatic PFAM:PF02099:Josephin -4 0.117 SQHIGH 4 9 13 0 15 15 T T A T T TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 126119 19 51009782 51009782 15 OS diagnosis snv DMC1 missense H295Y NM_007068 40-PALKDP DMC1 MISSENSE SNP Somatic 7 0.321 SQHIGH 22 11 33 0 27 27 Cosmic_Gene G G A G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 11144 22 38917683 38917683 Somatic Illumina 79 44610 76430 121141 131727 61 131920 OS diagnosis snv CXorf67 missense S317C NM_203407 40-PALKDP CXorf67 UTR SNP Somatic 1 0.178 SQHIGH 4 22 26 0 39 39 Cosmic_Gene C C G C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 340602 X 51150818 51150818 17 OS diagnosis snv CXorf67 silent V325V NM_203407 40-PALKDP CXorf67 UTR SNP Somatic 14 0.640 SQHIGH 10 26 36 0 37 37 Cosmic_Gene C C T C C TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 340602 X 51150843 51150843 34 OS diagnosis mnv GIPR missense Q138_V139>HF NM_000164 40-PALKDP GIPR|MIR642A MISSENSE|TSS-UPSTREAM Sub Somatic PFAM:PF00002:7tm_2 -1 0.591 SQHIGH 22 25 47 0 38 38 Cosmic_Gene GG GG TT GG GG TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 2696|693227 19 46177361 46177362 Somatic Illumina 69 29192 45600 75118 95535 1 95793 OS diagnosis snv TMEM52 missense L91V NM_178545 40-PALWWX TMEM52 MISSENSE SNP Somatic 3 0.272 SQHIGH 11 33 44 0 32 32 G G C G G TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 339456 1 1849770 1849770 Somatic Illumina 29 26565 18930 45509 31641 0 31656 OS diagnosis snv ATP1B1 missense N193K NM_001677 40-PALWWX ATP1B1 MISSENSE SNP Somatic PFAM:PF00287:Na_K-ATPase 11 0.515 SQHIGH 15 29 44 0 24 24 Cosmic_Gene T T A T T TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 481 1 169099259 169099259 Somatic Illumina 33 48332 19548 67957 67862 0 67911 OS diagnosis snv TBL2 missense Y174C NM_012453 40-PALWWX TBL2 MISSENSE SNP Somatic 13 0.614 SQHIGH 19 22 41 0 34 34 T T C T T TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 26608 7 72987727 72987727 Somatic Illumina 61 8940 6762 15723 14347 13 14381 OS diagnosis snv PCLO missense E1905Q NM_033026 40-PALWWX PCLO MISSENSE SNP Somatic 9 0.440 SQHIGH 18 31 49 0 36 36 Cosmic_Gene C C G C C TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 27445 7 82584556 82584556 Somatic Illumina 50 126229 93870 220163 236845 13 236918 OS diagnosis snv ZNF804B splice_region Q83_E2splice_region NM_181646 40-PALWWX ZNF804B DONOR SNP Somatic 8 0.409 SQHIGH 19 23 42 0 31 31 Cosmic_Gene A A G A A TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 219578 7 88847612 88847612 Somatic Illumina 56 59226 34580 93825 98911 35 98955 OS diagnosis snv VPS13A missense W1538C NM_033305 40-PALWWX VPS13A MISSENSE SNP Somatic 13 0.614 SQHIGH 12 14 26 0 22 22 Cosmic_Gene G G T G G TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 23230 9 79930370 79930370 Somatic Illumina 39 55913 46208 102223 100704 5 100789 OS diagnosis snv C9orf117 silent L197L NM_001012502 40-PALWWX TTC16|C9orf117 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -2 0.187 SQHIGH 7 27 34 0 33 33 G G A G G TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 158248|286207 9 130473511 130473511 22 OS diagnosis snv C1S missense K602I NM_201442 40-PALWWX C1S MISSENSE SNP Somatic 2 0.252 SQHIGH 46 41 87 0 52 52 Cosmic_Gene A A T A A TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 716 12 7177693 7177693 Somatic Illumina 121 16994 30587 47625 61257 1 61367 OS diagnosis snv KRT78 nonsense Q305* NM_173352 40-PALWWX KRT78 NONSENSE SNP Somatic PFAM:PF00038:Filament 17 0.862 SQHIGH 24 20 44 0 62 62 Cosmic_Gene G G A G G TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 196374 12 53238351 53238351 Somatic Illumina 113 41251 95829 137107 171710 123 171877 OS diagnosis snv UNC79 missense P159R NM_020818 40-PALWWX UNC79 MISSENSE SNP Somatic 3 0.272 SQHIGH 15 28 43 0 25 25 C C G C C TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 57578 14 93994947 93994947 Somatic Illumina 35 26603 19741 46365 48597 1 48613 OS diagnosis snv TSC2 splice Q1554_E36splice NM_000548 40-PALWWX TSC2 DISRUPT SNP Somatic 1 0.234 SQHIGH 9 7 16 0 16 16 Cosmic_Gene G G T G G TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 7249 16 2135324 2135324 Somatic Illumina 34 14622 33408 48047 61728 3 61744 OS diagnosis snv DNAH3 missense D2513G NM_017539 40-PALWWX DNAH3 MISSENSE SNP Somatic PFAM:PF00485:PRK 12 0.563 SQHIGH 15 6 21 0 21 21 Cosmic_Gene T T C T T TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 55567 16 20996526 20996526 Somatic Illumina 63 22768 64679 87494 99557 267 99856 OS diagnosis snv AURKB splice E1_splice NM_004217 40-PALWWX AURKB DISRUPT SNP Somatic 17 0.862 SQHIGH 31 14 45 0 49 49 Cosmic_Gene T T G T T TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 9212 17 8113569 8113569 Somatic Illumina 136 18299 42748 61121 65362 40 65482 OS diagnosis snv RFFL missense Y29H NM_001017368 40-PALWWX RFFL|RAD51L3-RFFL MISSENSE,UTR|INTRON SNP Somatic -9 0.109 SQHIGH 6 21 27 0 39 39 A A G A A TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 117584|100529207 17 33353488 33353488 25 OS diagnosis snv SCN4A missense W1002C NM_000334 40-PALWWX SCN4A MISSENSE SNP Somatic PFAM:PF06512:Na_trans_assoc -9 0.109 SQHIGH 8 25 33 0 15 15 Cosmic_Gene C C G C C TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 6329 17 62026109 62026109 14 OS diagnosis snv ELL silent T258T NM_006532 40-PALWWX ELL SYNONYMOUS SNP Somatic PFAM:PF10390:ELL 11 0.515 SQHIGH 17 19 36 0 44 44 Cosmic_Gene C C T C C TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 8178 19 18569110 18569110 71 OS diagnosis snv KMT2B nonsense S613* NM_014727 40-PALWWX KMT2B NONSENSE SNP Somatic 13 0.614 SQHIGH 16 27 43 0 60 60 Cosmic_Gene C C G C C TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 9757 19 36212087 36212087 Somatic Illumina 69 19155 11274 30442 32463 0 32469 OS diagnosis snv KIAA1755 silent G42G NM_001029864 40-PALWWX KIAA1755 SYNONYMOUS SNP Somatic -6 0.140 SQHIGH 28 27 55 0 40 40 Cosmic_Gene C C A C C TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 85449 20 36874406 36874406 84 OS diagnosis snv CHRNA4 silent G613G NM_000744 40-PALWWX CHRNA4 SYNONYMOUS SNP Somatic PFAM:PF02932:Neur_chan_memb 0 0.218 SQHIGH 9 13 22 0 17 17 Cosmic_Gene C C A C C TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 1137 20 61978135 61978135 26 OS diagnosis snv ARSF silent S464S NM_004042 40-PALWWX ARSF SYNONYMOUS SNP Somatic 17 0.862 SQHIGH 25 16 41 0 58 58 Cosmic_Gene T T C T T TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 416 X 3030216 3030216 122 OS diagnosis snv TBX22 missense S99Y NM_001109878 40-PALWWX TBX22 UTR5,MISSENSE SNP Somatic 16 0.790 SQHIGH 50 18 68 0 88 88 Cosmic_Gene C C A C C TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 50945 X 79278679 79278679 Somatic Illumina 252 35032 84206 119311 141298 12 141342 OS diagnosis snv IL1RAPL2 missense V204F NM_017416 40-PALWWX IL1RAPL2 MISSENSE SNP Somatic -9 0.109 SQHIGH 3 14 17 0 40 40 Cosmic_Gene G G T G G TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 26280 X 104512137 104512137 16 OS diagnosis snv BRINP3 silent S447S NM_199051 40-PAMEKS BRINP3 SYNONYMOUS SNP Somatic PFAM:PF03302:VSP 9 0.347 SQHIGH 9 3 12 0 34 34 Cosmic_Gene A A T A A TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 339479 1 190068108 190068108 67 OS diagnosis snv CAPN9 silent S288S NM_006615 40-PAMEKS CAPN9 SYNONYMOUS SNP dbsnp.126:rs35822261 Somatic 20 0.979 SQHIGH 21 6 27 0 46 46 Cosmic_Gene G G A G G TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 10753 1 230907834 230907834 126 OS diagnosis snv CNTNAP5 missense V171I NM_130773 40-PAMEKS CNTNAP5 MISSENSE SNP Somatic 7 0.288 SQHIGH 10 22 32 0 31 31 Cosmic_Gene G G A G G TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 129684 2 125175149 125175149 33 OS diagnosis snv STXBP5L missense S978P NM_014980 40-PAMEKS STXBP5L MISSENSE SNP Somatic -4 0.122 SQHIGH 5 12 17 0 24 24 Cosmic_Gene T T C T T TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 9515 3 121126362 121126362 21 OS diagnosis snv CYFIP2 missense F913V NM_001037333 40-PAMEKS CYFIP2 MISSENSE SNP Somatic PFAM:PF05994:FragX_IP 19 0.920 SQHIGH 14 13 27 0 50 50 T T G T T TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 26999 5 156786076 156786076 76 OS diagnosis snv SLC17A4 splice D276_E8splice NM_005495 40-PAMEKS SLC17A4 ACCEPTOR SNP Somatic -4 0.122 SQHIGH 17 63 80 0 48 48 Cosmic_Gene C C A C C TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 10050 6 25773738 25773738 38 OS diagnosis snv VARS2 missense T418M NM_001167734 40-PAMEKS VARS2 MISSENSE SNP dbsnp.134:rs140305500 Somatic 15 0.648 SQHIGH 26 31 57 0 38 38 Cosmic_Gene C C T C C TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 57176 6 30887623 30887623 71 OS diagnosis snv MYO6 silent G154G NM_004999 40-PAMEKS MYO6 SYNONYMOUS SNP Somatic 2 0.183 SQHIGH 5 18 23 0 27 27 Cosmic_Gene A A T A A TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 4646 6 76542629 76542629 18 OS diagnosis snv WBSCR27 missense G95A NM_152559 40-PAMEKS WBSCR27 MISSENSE SNP Somatic -5 0.115 SQHIGH 8 46 54 0 44 44 Cosmic_Gene C C G C C TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 155368 7 73254848 73254848 22 OS diagnosis snv TTPA missense S21C NM_000370 40-PAMEKS TTPA MISSENSE SNP Somatic -3 0.130 SQHIGH 9 61 70 1 51 52 G G C G G TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 7274 8 63998519 63998519 16 OS diagnosis snv ANK3 missense E314K NM_020987 40-PAMEKS ANK3 MISSENSE SNP dbsnp.111:rs4635033 Somatic PFAM:PF12796:Ank_2 3 0.200 SQHIGH 14 5 19 1 39 40 Cosmic_Gene C C T C C TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 288 10 61973226 61973226 79 OS diagnosis snv PKP2 missense S251C NM_001005242 40-PAMEKS PKP2 MISSENSE SNP Somatic 15 0.648 SQHIGH 9 18 27 2 52 54 Cosmic_Gene T T A T T TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 5318 12 33031063 33031063 32 OS diagnosis snv NEUROD4 silent G301G NM_021191 40-PAMEKS NEUROD4 SYNONYMOUS SNP Somatic 4 0.216 SQHIGH 14 39 53 0 67 67 Cosmic_Gene T T A T T TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 58158 12 55421126 55421126 54 OS diagnosis snv DCAF11 missense A126V NM_025230 40-PAMEKS DCAF11 MISSENSE,UTR SNP Somatic 5 0.236 SQHIGH 36 48 84 0 55 55 C C T C C TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 80344 14 24586568 24586568 96 OS diagnosis snv SENP8 missense V127A NM_001166340 40-PAMEKS SENP8 MISSENSE SNP Somatic PFAM:PF02902:Peptidase_C48 19 0.920 SQHIGH 11 13 24 0 57 57 Cosmic_Gene T T C T T TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 123228 15 72432344 72432344 67 OS diagnosis snv SLX4 missense G648V NM_032444 40-PAMEKS SLX4 MISSENSE SNP Somatic 0 0.158 SQHIGH 4 18 22 0 47 47 Cosmic_Gene C C A C C TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 84464 16 3645676 3645676 21 OS diagnosis snv CEP131 silent K353K NM_014984 40-PAMEKS CEP131 SYNONYMOUS SNP Somatic 20 0.979 SQHIGH 24 15 39 0 59 59 Cosmic_Gene C C T C C TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 22994 17 79173314 79173314 123 OS diagnosis snv ZNF91 missense K845Q NM_003430 40-PAMEKS ZNF91 MISSENSE SNP Somatic 13 0.504 SQHIGH 27 36 63 0 37 37 T T G T T TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 7644 19 23543248 23543248 66 OS diagnosis snv SHANK1 missense S1740G NM_016148 40-PAMEKS SHANK1 MISSENSE SNP Somatic 1 0.171 SQHIGH 3 16 19 0 34 34 Cosmic_Gene T T C T T TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 50944 19 51169999 51169999 14 OS diagnosis snv PHGDH missense D474N NM_006623 40-PANGPE PHGDH MISSENSE SNP Somatic 10 0.342 SQHIGH 57 66 123 0 84 84 Cosmic_Gene G G A G G TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 26227 1 120285640 120285640 160 OS diagnosis snv ACTG2 missense A23T NM_001615 40-PANGPE ACTG2 MISSENSE SNP Somatic PFAM:PF00022:Actin 6 0.229 SQHIGH 19 35 54 0 64 64 G G A G G TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 72 2 74128505 74128505 74 OS diagnosis snv TTN silent S3765S NM_133379 40-PANGPE TTN SYNONYMOUS,INTRON SNP Somatic 4 0.181 SQHIGH 11 50 61 0 52 52 Cosmic_Gene T T C T T TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 7273 2 179615832 179615832 31 OS diagnosis snv ATR missense I2021V NM_001184 40-PANGPE ATR MISSENSE SNP Somatic PFAM:PF02259:FAT 0 0.120 SQHIGH 5 31 36 0 42 42 Cosmic_Gene T T C T T TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 545 3 142211991 142211991 17 OS diagnosis snv KDR missense R1066H NM_002253 40-PANGPE KDR MISSENSE SNP Somatic 7 0.255 SQHIGH 22 38 60 0 43 43 Cosmic_Gene C C T C C TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 3791 4 55955965 55955965 60 OS diagnosis snv STOX2 silent S901S NM_020225 40-PANGPE STOX2 SYNONYMOUS SNP Somatic -33 0.003 5 22 27 1 45 46 C C T C C TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 56977 4 184938359 184938359 16 OS diagnosis snv CRISP1 missense M18I NM_001131 40-PANGPE CRISP1 MISSENSE SNP Somatic 12 0.431 SQHIGH 20 24 44 1 33 34 C C T C C TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 167 6 49825060 49825060 49 OS diagnosis snv CCDC129 silent P349P NM_194300 40-PANGPE CCDC129 SYNONYMOUS SNP Somatic -8 0.060 SQHIGH 7 45 52 0 52 52 T T G T T TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 223075 7 31617925 31617925 22 OS diagnosis snv SLC26A4 missense L438V NM_000441 40-PANGPE SLC26A4 MISSENSE SNP Somatic PFAM:PF00916:Sulfate_transp -4 0.084 SQHIGH 11 61 72 0 68 68 Cosmic_Gene C C G C C TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 5172 7 107334896 107334896 34 OS diagnosis snv NELFB missense L103P NM_015456 40-PANGPE LOC100129722|COBRA1 TSS-UPSTREAM|MISSENSE SNP Somatic 8 0.280 SQHIGH 32 57 89 0 80 80 T T C T T TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 100129722|25920 9 140150822 140150822 103 OS diagnosis snv EXD3 missense R822G NM_017820 40-PANGPE NRARP|EXD3 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01927:DUF82 5 0.198 SQHIGH 9 24 33 0 22 22 T T C T T TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 441478|54932 9 140201569 140201569 22 OS diagnosis snv FAM208B silent A403A NM_017782 40-PANGPE FAM208B SYNONYMOUS SNP dbsnp.134:rs146574498 Somatic 12 0.431 SQHIGH 16 6 22 1 35 36 G G A G G TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 54906 10 5777271 5777271 79 OS diagnosis snv MRVI1 nonsense E146* NM_001098579 40-PANGPE MRVI1 UTR5,NONSENSE SNP Somatic 1 0.132 SQHIGH 27 53 80 0 76 76 Cosmic_Gene C C A C C TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 10335 11 10651196 10651196 90 OS diagnosis snv LOC100507091 EXON E1_exon NM_020845 40-PANGPE LOC100507091|PITPNM2 UTR|INTRON SNP Somatic 10 0.342 SQHIGH 22 34 56 0 52 52 Cosmic_Gene G G T G G TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 100507091|57605 12 123569007 123569007 74 OS diagnosis snv PROX2 missense G332E NM_001080408 40-PANGPE LOC100506536|PROX2 UTR|MISSENSE SNP Somatic PFAM:PF05044:Prox1 7 0.255 SQHIGH 14 47 61 0 64 64 C C T C C TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 100506536|283571 14 75321938 75321938 47 OS diagnosis snv RSL1D1 silent L9L NM_015659 40-PANGPE RSL1D1 SYNONYMOUS SNP Somatic 4 0.181 SQHIGH 41 39 80 1 63 64 G G A G G TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 26156 16 11945345 11945345 118 OS diagnosis snv TMEM102 missense E329K NM_178518 40-PANGPE TMEM102|FGF11 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF03281:Mab-21 6 0.229 SQHIGH 13 30 43 0 46 46 G G A G G TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 284114|2256 17 7340283 7340283 46 OS diagnosis snv MYH1 silent G798G NM_005963 40-PANGPE MYH1 SYNONYMOUS SNP Somatic 1 0.132 SQHIGH 31 63 94 1 83 84 Cosmic_Gene C C T C C TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 4619 17 10408521 10408521 85 OS diagnosis snv PRKCA missense K396E NM_002737 40-PANGPE PRKCA MISSENSE SNP Somatic 1 0.132 SQHIGH 10 63 73 0 69 69 Cosmic_Gene A A G A A TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 5578 17 64731736 64731736 30 OS diagnosis snv MYO5B silent V675V NM_001080467 40-PANGPE MYO5B SYNONYMOUS SNP Somatic 7 0.255 SQHIGH 26 70 96 0 93 93 Cosmic_Gene C C T C C TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 4645 18 47455947 47455947 85 OS diagnosis snv IZUMO1 missense P18S NM_182575 40-PANGPE IZUMO1 MISSENSE SNP Somatic -1 0.109 SQHIGH 14 49 63 0 64 64 Cosmic_Gene G G A G G TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 284359 19 49249065 49249065 46 OS diagnosis snv SPO11 missense R211W NM_012444 40-PANGPE SPO11 MISSENSE SNP dbsnp.125:rs28368082 Somatic -8 0.060 SQHIGH 5 26 31 0 40 40 Cosmic_Gene C C T C C TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 23626 20 55910508 55910508 19 OS diagnosis snv AXDND1 missense R828Q NM_144696 40-PANPUM AXDND1 MISSENSE SNP Somatic 13 0.690 SQHIGH 20 27 47 0 48 48 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 126859 1 179478525 179478525 Somatic Illumina 72 104381 75569 179962 201650 75 201744 OS diagnosis snv PUS10 silent Y41Y NM_144709 40-PANPUM PUS10 SYNONYMOUS SNP Somatic -5 0.134 SQHIGH 3 9 12 0 32 32 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 150962 2 61238903 61238903 18 OS diagnosis snv TTN missense C1015F NM_133378 40-PANPUM TTN MISSENSE SNP Somatic 12 0.634 SQHIGH 19 30 49 0 40 40 Cosmic_Gene C C A C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 7273 2 179647589 179647589 Somatic Illumina 58 21316 15955 37284 49546 3 49561 OS diagnosis snv GRM7 missense K788Q NM_000844 40-PANPUM GRM7 MISSENSE SNP Somatic PFAM:PF00003:7tm_3 10 0.531 SQHIGH 12 19 31 0 30 30 Cosmic_Gene A A C A A TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 2917 3 7620955 7620955 Somatic Illumina 41 23556 12270 35908 66137 98 66330 OS diagnosis snv LRRC3B missense Y70C NM_052953 40-PANPUM LRRC3B MISSENSE SNP Somatic -8 0.104 SQHIGH 7 30 37 1 63 64 Cosmic_Gene A A G A A TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 116135 3 26751372 26751372 Somatic Illumina 25 68581 32757 101370 131403 51 131491 OS diagnosis snv ALS2CL splice R895_E25splice NM_147129 40-PANPUM ALS2CL DISRUPT SNP Somatic -4 0.145 SQHIGH 7 20 27 0 36 36 Cosmic_Gene T T C T T TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 259173 3 46713076 46713076 Somatic Illumina 28 26763 12808 39578 58306 65 58374 OS diagnosis snv RELL1 silent V64V NM_001085400 40-PANPUM RELL1 SYNONYMOUS SNP Somatic PFAM:PF12606:RELT 6 0.370 SQHIGH 21 48 69 0 38 38 G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 768211 4 37651019 37651019 46 OS diagnosis snv ZNF318 missense G2181E NM_014345 40-PANPUM ZNF318 MISSENSE SNP Somatic -5 0.134 SQHIGH 8 43 51 0 54 54 Cosmic_Gene C C T C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 24149 6 43305194 43305194 Somatic Illumina 26 124478 16470 140961 121708 28 121754 OS diagnosis snv MAP7 missense E595Q NM_003980 40-PANPUM MAP7 MISSENSE SNP Somatic -6 0.123 SQHIGH 7 48 55 0 33 33 C C G C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 9053 6 136681855 136681855 15 OS diagnosis snv GRM3 missense S507F NM_000840 40-PANPUM GRM3 MISSENSE SNP Somatic PFAM:PF07562:NCD3G 6 0.370 SQHIGH 7 22 29 0 41 41 Cosmic_Gene C C T C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 2913 7 86468350 86468350 Somatic Illumina 29 21015 2199 23237 30457 13 30495 OS diagnosis snv GPR124 missense E873K NM_032777 40-PANPUM GPR124 MISSENSE SNP Somatic PFAM:PF00002:7tm_2 6 0.370 SQHIGH 23 49 72 0 41 41 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 25960 8 37697744 37697744 Somatic Illumina 52 26997 6236 33269 36316 5 36342 OS diagnosis snv GBF1 missense S1092T NM_004193 40-PANPUM GBF1 MISSENSE SNP Somatic -5 0.134 SQHIGH 11 49 60 0 45 45 Cosmic_Gene G G C G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 8729 10 104129680 104129680 29 OS diagnosis snv TDRD1 missense S538C NM_198795 40-PANPUM TDRD1 MISSENSE SNP Somatic PFAM:PF00567:TUDOR 3 0.278 SQHIGH 7 23 30 0 18 18 C C G C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 56165 10 115970679 115970679 Somatic Illumina 16 79349 20055 99479 135778 11 135880 OS diagnosis snv ABCC8 splice T558_E12splice NM_000352 40-PANPUM ABCC8 DISRUPT SNP Somatic -2 0.174 SQHIGH 13 37 50 1 25 26 Cosmic_Gene C C T C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 6833 11 17452507 17452507 Somatic Illumina 18 61842 15065 76952 97354 19 97449 OS diagnosis snv METTL12 nonsense R205* NM_001043229 40-PANPUM METTL12|C11orf48|C11orf83 NONSENSE|INTRON|TSS-UPSTREAM SNP Somatic -6 0.123 SQHIGH 6 28 34 0 27 27 C C T C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 751071|79081|790955 11 62434413 62434413 16 OS diagnosis snv LRRC43 missense K482T NM_001098519 40-PANPUM LRRC43|B3GNT4 MISSENSE|TSS-UPSTREAM SNP Somatic -4 0.145 SQHIGH 15 17 32 0 22 22 Cosmic_Gene A A C A A TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 254050|79369 12 122684831 122684831 Somatic Illumina 42 74251 36666 111097 184505 21 184750 OS diagnosis snv TMEM132D missense L906F NM_133448 40-PANPUM TMEM132D MISSENSE SNP Somatic 3 0.278 SQHIGH 11 48 59 0 63 63 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 121256 12 129559004 129559004 Somatic Illumina 37 32665 8821 41499 53916 16 53936 OS diagnosis snv PCK2 missense E58K NM_004563 40-PANPUM PCK2 MISSENSE SNP Somatic PFAM:PF00821:PEPCK 11 0.578 SQHIGH 82 77 159 0 38 38 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 5106 14 24566243 24566243 TumorFP Illumina 102 93199 13 93217 115435 24 115461 OS diagnosis snv SPTBN5 missense G74C NM_016642 40-PANPUM LOC100289090|SPTBN5 TSS-UPSTREAM|MISSENSE SNP Somatic -1 0.191 SQHIGH 8 31 39 1 38 39 Cosmic_Gene C C A C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 100289090|51332 15 42185256 42185256 Somatic Illumina 18 28686 7794 36517 65806 2 65838 OS diagnosis snv AP4E1 missense Y869D NM_007347 40-PANPUM AP4E1 MISSENSE SNP Somatic PFAM:PF07718:Coatamer_beta_C -37 0.003 4 14 18 0 24 24 T T G T T TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 23431 15 51289781 51289781 16 OS diagnosis snv MYLK3 silent G76G NM_182493 40-PANPUM MYLK3 SYNONYMOUS SNP Somatic -7 0.113 SQHIGH 9 17 26 0 24 24 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 91807 16 46781878 46781878 29 OS diagnosis snv DNAH9 missense R1226K NM_001372 40-PANPUM DNAH9 MISSENSE SNP Somatic 0 0.210 SQHIGH 7 17 24 0 27 27 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 1770 17 11584140 11584140 Somatic Illumina 25 79823 34940 114772 164328 129 164468 OS diagnosis snv SREBF1 splice_region D566_E10splice_region NM_001005291 40-PANPUM MIR33B|SREBF1 TSS-UPSTREAM|ACCEPTOR SNP Somatic 1 0.230 SQHIGH 6 45 51 0 33 33 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 693120|6720 17 17720460 17720460 14 OS diagnosis snv RAB11FIP4 missense R613W NM_032932 40-PANPUM RAB11FIP4|MIR4724 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF09457:RBD-FIP 6 0.370 SQHIGH 27 52 79 1 50 51 Cosmic_Gene C C T C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 84440|100616248 17 29858673 29858673 Somatic Illumina 56 112204 49660 161875 225155 112 225305 OS diagnosis snv VAV1 silent R90R NM_005428 40-PANPUM VAV1 SYNONYMOUS SNP Somatic PFAM:PF00307:CH 5 0.332 SQHIGH 146 48 194 0 35 35 Cosmic_Gene G G C G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 7409 19 6820778 6820778 179 OS diagnosis snv NR2F6 missense L310F NM_005234 40-PANPUM NR2F6 MISSENSE SNP Somatic 10 0.531 SQHIGH 16 17 33 0 15 15 G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 2063 19 17346320 17346320 BadAssay Illumina 33 0 0 0 1 0 1 OS diagnosis snv RYR1 missense R4136C NM_000540 40-PANPUM RYR1 MISSENSE SNP Somatic 2 0.252 SQHIGH 8 9 17 0 13 13 Cosmic_Gene C C T C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 6261 19 39051876 39051876 Somatic Illumina 24 18129 8079 26227 23007 11 23040 OS diagnosis snv CECR1 missense S205L NM_001282225 40-PANPUM CECR1 TSS-UPSTREAM,MISSENSE SNP Somatic 4 0.303 SQHIGH 25 30 55 0 79 79 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 51816 22 17684592 17684592 Somatic Illumina 115 8730 8384 17115 22364 7 22372 OS diagnosis snv NPTXR silent R308R NM_014293 40-PANPUM NPTXR SYNONYMOUS SNP Somatic 1 0.230 SQHIGH 10 25 35 0 32 32 Cosmic_Gene G G A G G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 23467 22 39222679 39222679 31 OS diagnosis snv WNT7B silent K174K NM_058238 40-PANPUM WNT7B SYNONYMOUS SNP Somatic PFAM:PF00110:wnt 6 0.370 SQHIGH 20 15 35 0 25 25 Cosmic_Gene C C T C C TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 7477 22 46327026 46327026 61 OS diagnosis snv USP11 nonsense E795* NM_004651 40-PANPUM USP11 NONSENSE SNP Somatic 9 0.488 SQHIGH 13 2 15 0 9 9 Cosmic_Gene G T G TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 8237 X 47104865 47104865 Somatic Illumina 44 53181 35112 88326 111753 4 111767 OS diagnosis snv RYR2 missense R3904Q NM_001035 40-PANXSC RYR2 MISSENSE SNP Somatic PFAM:PF08454:RIH_assoc 1 0.235 SQHIGH 10 33 43 0 36 36 Cosmic_Gene G G A G G TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 6262 1 237936884 237936884 Somatic Illumina 29 117248 34665 151994 177107 59 177275 OS diagnosis snv SULT1C3 missense P27R NM_001008743 40-PANXSC SULT1C3 MISSENSE SNP Somatic -8 0.108 SQHIGH 6 32 38 0 23 23 Cosmic_Gene C C G C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 442038 2 108863730 108863730 13 OS diagnosis snv TTN-AS1 EXON E301_exon NM_133378 40-PANXSC TTN|LOC100506866 ACCEPTOR|INTRON,UTR SNP Somatic 12 0.598 SQHIGH 27 15 42 0 47 47 Cosmic_Gene G G T G G TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 7273|100506866 2 179403981 179403981 Somatic Illumina 117 42884 108445 151422 183245 12 183304 OS diagnosis snv TTN missense S8058L NM_133378 40-PANXSC TTN INTRON,MISSENSE SNP Somatic -6 0.130 SQHIGH 6 30 36 0 38 38 Cosmic_Gene G G A G G TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 7273 2 179576058 179576058 20 OS diagnosis snv ZNF142 missense A752V NM_001105537 40-PANXSC ZNF142 MISSENSE SNP Somatic 5 0.331 SQHIGH 34 9 44 1 27 29 Cosmic_Gene G G A G G TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 7701 2 219508984 219508984 101 OS diagnosis snv RAB5A nonsense Q211* NM_004162 40-PANXSC RAB5A|PP2D1 NONSENSE|INTRON SNP Somatic 2 0.256 SQHIGH 7 14 21 0 20 20 C C T C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 5868|151649 3 20025298 20025298 Somatic Illumina 23 47989 20017 68024 82280 66 82377 OS diagnosis snv OR2B3 missense N42I NM_001005226 40-PANXSC OR2B3 MISSENSE SNP Somatic -4 0.153 SQHIGH 10 31 41 0 41 41 Cosmic_Gene T T A T T TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 442184 6 29054901 29054901 33 OS diagnosis snv DPCR1 nonsense E1164* NM_080870 40-PANXSC DPCR1 NONSENSE SNP Somatic 7 0.404 SQHIGH 15 33 48 0 19 19 G G T G G TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 135656 6 30919731 30919731 Somatic Illumina 25 767 690 1467 1235 0 1239 OS diagnosis snv GPRC6A missense L72H NM_148963 40-PANXSC GPRC6A MISSENSE SNP Somatic 4 0.304 SQHIGH 13 7 20 1 41 42 Cosmic_Gene A A T A A TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 222545 6 117130760 117130760 69 OS diagnosis snv POLR2J4 EXON E4_exon NM_015983 40-PANXSC UBE2D4|POLR2J4 INTRON|UTR SNP Somatic 6 0.365 SQHIGH 18 32 50 0 29 29 C C A C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 51619|84820 7 43983277 43983277 42 OS diagnosis snv ASNS missense G119S NM_133436 40-PANXSC ASNS MISSENSE SNP Somatic PFAM:PF00310:GATase_2 -10 0.092 SQHIGH 7 32 39 0 47 47 Cosmic_Gene C C T C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 440 7 97493703 97493703 25 OS diagnosis snv RNF139 missense R217G NM_007218 40-PANXSC RNF139 MISSENSE SNP Somatic -6 0.130 SQHIGH 5 41 46 0 56 56 Cosmic_Gene C C G C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 11236 8 125498539 125498539 18 OS diagnosis snv SPAG6 missense T129M NM_012443 40-PANXSC SPAG6 MISSENSE SNP dbsnp.134:rs142339347 Somatic 2 0.256 SQHIGH 6 15 21 0 28 28 Cosmic_Gene C C T C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 9576 10 22657521 22657521 24 OS diagnosis snv HMX3 missense A288V NM_001105574 40-PANXSC HMX3 MISSENSE SNP Somatic 14 0.707 SQHIGH 12 13 25 0 30 30 C C T C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 340784 10 124897036 124897036 TumorFP Illumina 49 10639 246 10901 13964 3 13980 OS diagnosis snv IGSF9B silent T680T NM_001277285 40-PANXSC IGSF9B SYNONYMOUS SNP Somatic -6 0.130 SQHIGH 9 32 41 0 54 54 C C G C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 22997 11 133794794 133794794 35 OS diagnosis snv TAS2R46 missense P6S NM_176887 40-PANXSC TAS2R46|PRH1-PRR4 MISSENSE|INTRON SNP Somatic PFAM:PF03402:V1R -9 0.100 SQHIGH 12 51 63 1 52 53 Cosmic_Gene G G A G G TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 259292|100533464 12 11214878 11214878 Somatic Sanger 26 651 143 794 862 1 864 OS diagnosis snv RNF219-AS1 EXON E5_exon NM_024546 40-PANXSC RNF219 INTRON SNP Somatic -5 0.141 SQHIGH 5 13 18 0 42 42 Cosmic_Gene C C T C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 79596 13 79191309 79191309 28 OS diagnosis snv ZNF469 missense P2410A NM_001127464 40-PANXSC ZNF469 MISSENSE SNP Somatic -5 0.141 SQHIGH 6 7 13 0 25 25 C C G C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 84627 16 88501190 88501190 32 OS diagnosis snv ZNF682 missense Y369C NM_033196 40-PANXSC ZNF682 MISSENSE SNP Somatic 16 0.815 SQHIGH 14 10 24 0 48 48 Cosmic_Gene T T C T T TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 91120 19 20117205 20117205 Somatic Illumina 82 61706 58786 120504 181004 158 181172 OS diagnosis snv LOC101927159 EXON E6_exon NM_133170 40-PANXSC PTPRT INTRON SNP Somatic 11 0.547 SQHIGH 32 28 60 0 40 40 Cosmic_Gene G G C G G TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 11122 20 41316705 41316705 91 OS diagnosis snv AURKA missense A105G NM_198433 40-PANXSC AURKA MISSENSE SNP Somatic -5 0.141 SQHIGH 11 55 66 0 51 51 Cosmic_Gene G G C G G TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 6790 20 54961318 54961318 Somatic Illumina 29 51832 10921 62778 59718 2 59748 OS diagnosis snv PNCK silent Y296Y NM_001039582 40-PANXSC PNCK SYNONYMOUS SNP Somatic 17 0.883 SQHIGH 17 5 22 0 13 13 Cosmic_Gene G A G TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 139728 X 152936621 152936621 52 OS diagnosis snv ATAD3C splice G230_E8splice NM_001039211 40-PAPNVD ATAD3C DISRUPT SNP Somatic 5 0.273 SQHIGH 12 21 33 0 32 32 G G A G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 219293 1 1392508 1392508 41 OS diagnosis snv EIF4G3 missense I999V NM_003760 40-PAPNVD EIF4G3 MISSENSE SNP Somatic -5 0.114 SQHIGH 6 43 49 0 44 44 Cosmic_Gene T T C T T TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 8672 1 21186959 21186959 17 OS diagnosis snv ADORA3 silent V28V NM_020683 40-PAPNVD ADORA3 SYNONYMOUS,INTRON SNP Somatic PFAM:PF10320:7TM_GPCR_Srsx 5 0.273 SQHIGH 27 50 77 1 51 52 Cosmic_Gene C C T C C TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 140 1 112045893 112045893 59 OS diagnosis snv LTBP1 nonsense K596* NM_206943 40-PAPNVD LTBP1 NONSENSE SNP Somatic 7 0.344 SQHIGH 17 39 56 0 40 40 Cosmic_Gene A A T A A TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 4052 2 33442703 33442703 Somatic Illumina 45 26965 6562 33569 43882 3 43924 OS diagnosis snv CNTNAP5 missense D203N NM_130773 40-PAPNVD CNTNAP5 MISSENSE SNP Somatic -9 0.083 SQHIGH 6 35 41 0 51 51 Cosmic_Gene G G A G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 129684 2 125192138 125192138 22 OS diagnosis snv UBR3 missense D1248V NM_172070 40-PAPNVD UBR3 MISSENSE SNP Somatic 3 0.225 SQHIGH 6 20 26 0 13 13 A A T A A TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 130507 2 170843263 170843263 12 OS diagnosis snv GORASP2 missense N240I NM_015530 40-PAPNVD GORASP2 MISSENSE SNP Somatic PFAM:PF04495:GRASP55_65 1 0.187 SQHIGH 11 38 49 0 37 37 Cosmic_Gene A A T A A TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 26003 2 171812965 171812965 29 OS diagnosis snv GNL3 silent Q481Q NM_014366 40-PAPNVD GNL3 SYNONYMOUS SNP Somatic 0 0.171 SQHIGH 6 19 25 0 46 46 G G A G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 26354 3 52727766 52727766 29 OS diagnosis snv KIF12 missense L479P NM_138424 40-PAPNVD KIF12 MISSENSE SNP Somatic -9 0.083 SQHIGH 4 17 21 0 25 25 A A G A A TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 113220 9 116854247 116854247 14 OS diagnosis snv OR5F1 missense T160I NM_003697 40-PAPNVD OR5F1 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 18 0.902 SQHIGH 15 16 31 0 57 57 Cosmic_Gene G G A G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 338674 11 55761623 55761623 80 OS diagnosis snv TP53AIP1 missense L112V NM_022112 40-PAPNVD TP53AIP1 INTRON,MISSENSE SNP Somatic -5 0.114 SQHIGH 8 42 50 0 54 54 Cosmic_Gene G G C G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 63970 11 128805527 128805527 27 OS diagnosis snv TBX5 missense V89L NM_000192 40-PAPNVD TBX5 MISSENSE SNP Somatic 10 0.447 SQHIGH 13 33 46 1 47 48 Cosmic_Gene C C G C C TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 6910 12 114837415 114837415 Somatic Illumina 35 53470 45914 99417 121020 2 121056 OS diagnosis snv FLT1 missense Q1005K NM_002019 40-PAPNVD FLT1 MISSENSE SNP Somatic -5 0.114 SQHIGH 11 44 55 0 42 42 Cosmic_Gene G G T G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 2321 13 28896437 28896437 29 OS diagnosis snv SETDB2 silent N424N NM_031915 40-PAPNVD SETDB2 SYNONYMOUS SNP Somatic PFAM:PF00856:SET 4 0.248 SQHIGH 14 26 40 0 21 21 Cosmic_Gene T T C T T TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 83852 13 50056952 50056952 30 OS diagnosis snv ZIC2 missense G339V NM_007129 40-PAPNVD ZIC2 MISSENSE SNP Somatic 11 0.487 SQHIGH 18 24 42 1 27 28 G G T G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 7546 13 100635334 100635334 Somatic Illumina 38 9376 5949 15339 18108 3 18119 OS diagnosis snv MYH7 missense R858C NM_000257 40-PAPNVD MYH7 MISSENSE SNP Somatic -7 0.096 SQHIGH 7 13 20 0 17 17 Cosmic_Gene G G A G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 4625 14 23894085 23894085 Somatic Illumina 21 16281 3610 19893 25364 5 25371 OS diagnosis snv CATSPERB silent K675K NM_024764 40-PAPNVD CATSPERB SYNONYMOUS SNP Somatic -1 0.156 SQHIGH 6 21 27 0 26 26 Cosmic_Gene C C T C C TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 79820 14 92088187 92088187 19 OS diagnosis snv NME4 nonsense W35* NM_005009 40-PAPNVD DECR2|NME4 TSS-UPSTREAM|NONSENSE SNP Somatic -2 0.144 SQHIGH 9 14 23 0 17 17 G G A G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 26063|4833 16 449002 449002 Somatic Illumina 25 8091 4661 12754 19371 4 19384 OS diagnosis snv GNA13 missense R335P NM_006572 40-PAPNVD GNA13 MISSENSE SNP Somatic 13 0.592 SQHIGH 35 34 69 0 49 49 C C G C C TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 10672 17 63010505 63010505 Somatic Illumina 103 76685 63421 140199 177225 15 177390 OS diagnosis snv ABHD3 nonsense W264* NM_138340 40-PAPNVD ABHD3 NONSENSE SNP Somatic 11 0.487 SQHIGH 23 25 48 0 40 40 Cosmic_Gene C C T C C TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 171586 18 19239182 19239182 74 OS diagnosis snv IMPACT missense L305F NM_018439 40-PAPNVD IMPACT MISSENSE SNP Somatic 1 0.187 SQHIGH 8 34 42 0 31 31 G G C G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 55364 18 22030763 22030763 Somatic Illumina 21 121711 23011 144859 173706 3 173879 OS diagnosis snv MEGF8 missense A507P NM_001410 40-PAPNVD MEGF8 MISSENSE SNP Somatic -5 0.114 SQHIGH 9 45 54 0 32 32 Cosmic_Gene G G C G G TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 1954 19 42847634 42847634 19 OS diagnosis snv TOMM40 splice_region Q114_E2splice_region NM_001128917 40-PAPNVD TOMM40 INTRON SNP Somatic 8 0.379 SQHIGH 21 40 61 0 64 64 C C G C C TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 10452 19 45395724 45395724 75 OS diagnosis snv PTPRH missense S710P NM_002842 40-PAPNVD PTPRH MISSENSE SNP dbsnp.134:rs146115875 Somatic -4 0.123 SQHIGH 17 97 114 0 61 61 Cosmic_Gene A A G A A TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 5794 19 55708019 55708019 Somatic Illumina 34 42376 8713 51126 60063 27 60126 OS diagnosis snv ELMO2 missense R571Q NM_133171 40-PAPNVD ELMO2 MISSENSE SNP Somatic 16 0.780 SQHIGH 31 25 56 0 31 31 Cosmic_Gene C C T C C TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 63916 20 45000080 45000080 Somatic Illumina 78 40005 55398 95431 112312 67 112424 OS diagnosis snv DOPEY2 silent I63I NM_005128 40-PAPNVD DOPEY2 SYNONYMOUS SNP Somatic PFAM:PF04118:Dopey_N -4 0.123 SQHIGH 9 46 55 0 24 24 Cosmic_Gene C C T C C TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 9980 21 37571418 37571418 15 OS diagnosis snv FMR1 silent Q243Q NM_002024 40-PAPNVD FMR1 SYNONYMOUS,UTR SNP Somatic PFAM:PF07650:KH_2 -2 0.144 SQHIGH 4 8 12 0 28 28 Cosmic_Gene A A G A A TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 2332 X 147014042 147014042 23 OS diagnosis snv EHD3 missense D449G NM_014600 40-PAPXGT EHD3 MISSENSE SNP Somatic -7 0.082 SQHIGH 8 26 34 0 28 28 Cosmic_Gene A A G A A TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 30845 2 31489308 31489308 23 OS diagnosis snv RANBP2 silent G940G NM_006267 40-PAPXGT RANBP2 SYNONYMOUS SNP Somatic 15 0.739 SQHIGH 14 23 37 0 36 36 Cosmic_Gene T T C T T TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 5903 2 109379815 109379815 48 OS diagnosis snv LRP2 missense V517M NM_004525 40-PAPXGT LRP2 MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b 16 0.800 SQHIGH 15 13 28 0 30 30 Cosmic_Gene C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 4036 2 170135898 170135898 Somatic Illumina 59 85067 37950 123027 123206 86 123300 OS diagnosis snv RABL3 nonsense Q151* NM_173825 40-PAPXGT RABL3 NONSENSE SNP Somatic 11 0.484 SQHIGH 15 20 35 1 44 45 G G A G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 285282 3 120417353 120417353 Somatic Illumina 53 29155 22603 51783 57474 17 57524 OS diagnosis snv C7 missense R233H NM_000587 40-PAPXGT C7 MISSENSE SNP Somatic -7 0.082 SQHIGH 4 22 26 0 40 40 G G A G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 730 5 40945430 40945430 17 OS diagnosis snv ACTB nonsense E224* NM_001101 40-PAPXGT ACTB|LOC100505829 NONSENSE|INTRON SNP Somatic PFAM:PF00022:Actin 6 0.296 SQHIGH 18 60 78 0 39 39 C C A C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 60|100505829 7 5568044 5568044 Somatic Illumina 35 29517 6670 36209 38503 0 38511 OS diagnosis snv HECW1 missense A725T NM_015052 40-PAPXGT HECW1 MISSENSE SNP Somatic 4 0.236 SQHIGH 20 35 55 1 24 25 Cosmic_Gene G G A G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 23072 7 43484944 43484944 Somatic Illumina 29 140364 73197 213579 224492 135 224654 OS diagnosis snv TYW1 missense V582M NM_018264 40-PAPXGT TYW1 MISSENSE SNP Somatic PFAM:PF04055:Radical_SAM -8 0.074 SQHIGH 15 37 52 0 42 42 Cosmic_Gene G G A G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 55253 7 66648158 66648158 Somatic Illumina 43 1394 428 1858 1558 1 1584 OS diagnosis snv SAMD9 missense G952R NM_017654 40-PAPXGT SAMD9 MISSENSE SNP Somatic 0 0.162 SQHIGH 9 33 42 0 49 49 Cosmic_Gene C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 54809 7 92732557 92732557 Somatic Illumina 32 23929 9539 33509 35700 14 35754 OS diagnosis snv ESYT2 missense I766M NM_020728 40-PAPXGT ESYT2 MISSENSE SNP Somatic 4 0.236 SQHIGH 7 14 21 0 18 18 Cosmic_Gene G G C G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 57488 7 158531764 158531764 Somatic Illumina 21 27855 50638 78528 82027 2 82064 OS diagnosis snv MSC silent F182F NM_005098 40-PAPXGT MSC|LOC100132891 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 0 0.162 SQHIGH 10 32 42 0 40 40 G G A G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 9242|100132891 8 72754971 72754971 32 OS diagnosis snv OC90 nonsense E364* NM_001080399 40-PAPXGT OC90 NONSENSE SNP Somatic -2 0.133 SQHIGH 13 47 60 0 53 53 Cosmic_Gene C C A C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 729330 8 133041368 133041368 39 OS diagnosis snv CTSV missense R96Q NM_001333 40-PAPXGT CTSV MISSENSE SNP Somatic 16 0.800 SQHIGH 21 22 43 0 61 61 C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 1515 9 99799643 99799643 Somatic Illumina 97 76761 64714 141490 149819 141 149975 OS diagnosis snv NCBP1 silent Y185Y NM_002486 40-PAPXGT NCBP1 SYNONYMOUS SNP Somatic PFAM:PF02854:MIF4G 9 0.394 SQHIGH 7 8 15 0 34 34 Cosmic_Gene C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 4686 9 100407958 100407958 41 OS diagnosis snv AKAP2 silent D286D NM_001004065 40-PAPXGT AKAP2|PALM2-AKAP2 SYNONYMOUS|SYNONYMOUS SNP Somatic 6 0.296 SQHIGH 15 14 29 0 43 43 Cosmic_Gene C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 11217|445815 9 112899108 112899108 72 OS diagnosis snv MUC5B splice K5690_E49splice NM_002458 40-PAPXGT MUC5B SYNONYMOUS SNP Somatic PFAM:PF00007:Cys_knot 1 0.178 SQHIGH 8 13 21 0 15 15 G G A G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 727897 11 1282619 1282619 22 OS diagnosis snv OR8I2 missense L186R NM_001003750 40-PAPXGT OR8I2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 13 0.598 SQHIGH 12 24 36 0 55 55 Cosmic_Gene T T G T T TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 120586 11 55861340 55861340 Somatic Sanger 54 0 0 0 0 0 0 OS diagnosis snv SLC43A1 nonsense E286* NM_003627 40-PAPXGT SLC43A1 NONSENSE SNP Somatic 6 0.296 SQHIGH 20 40 60 0 42 42 C C A C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 8501 11 57261481 57261481 Somatic Illumina 53 121817 42658 164548 193596 92 193733 OS diagnosis snv MSANTD2 missense H195Y NM_024631 40-PAPXGT MSANTD2 MISSENSE SNP Somatic 8 0.358 SQHIGH 11 25 36 0 45 45 G G A G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 79684 11 124644642 124644642 Somatic Illumina 43 108342 39292 147801 148520 70 148782 OS diagnosis snv NAV3 splice_region D294_E8splice_region NM_014903 40-PAPXGT NAV3 ACCEPTOR SNP Somatic 2 0.197 SQHIGH 15 40 55 1 45 46 Cosmic_Gene C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 89795 12 78400195 78400195 Somatic Illumina 34 69423 22582 92023 89812 45 89866 OS diagnosis snv MYO16 silent G589G NM_015011 40-PAPXGT MYO16 SYNONYMOUS SNP Somatic 6 0.296 SQHIGH 13 8 21 0 28 28 Cosmic_Gene C C A C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 23026 13 109562406 109562406 61 OS diagnosis snv TINF2 silent Q414Q NM_001099274 40-PAPXGT TINF2 UTR3,SYNONYMOUS SNP Somatic 5 0.267 SQHIGH 24 72 96 0 64 64 C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 26277 14 24709117 24709117 59 OS diagnosis snv AGBL1 splice_region R746_E16splice_region NM_152336 40-PAPXGT AGBL1 INTRON SNP Somatic -7 0.082 SQHIGH 6 22 28 0 49 49 A A G A A TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 123624 15 86838648 86838648 28 OS diagnosis snv CCDC154 silent R110R NM_001143980 40-PAPXGT CCDC154 SYNONYMOUS SNP Somatic -10 0.062 SQHIGH 3 6 9 0 16 16 G G A G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 645811 16 1493591 1493591 14 OS diagnosis snv TRAF7 missense R104C NM_032271 40-PAPXGT TRAF7 MISSENSE SNP Somatic 17 0.874 SQHIGH 16 10 26 0 28 28 Cosmic_Gene C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 84231 16 2220693 2220693 Somatic Illumina 66 25892 22461 48355 64929 55 64988 OS diagnosis snv MYH2 splice E1_splice NM_017534 40-PAPXGT MYH2 DISRUPT,INTRON SNP Somatic -1 0.146 SQHIGH 4 7 11 1 22 23 Cosmic_Gene A A T A A TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 4620 17 10452874 10452874 15 OS diagnosis snv FBXO15 missense H285Y NM_152676 40-PAPXGT FBXO15 MISSENSE SNP Somatic 5 0.267 SQHIGH 21 40 61 0 71 71 Cosmic_Gene G G A G G TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 201456 18 71790660 71790660 Somatic Illumina 80 62866 104434 167308 156224 81 156323 OS diagnosis snv KMT2B missense R295C NM_014727 40-PAPXGT KMT2B MISSENSE SNP Somatic 6 0.296 SQHIGH 10 21 31 1 32 33 Cosmic_Gene C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 9757 19 36211132 36211132 Somatic Sanger 27 0 0 0 0 0 0 OS diagnosis snv PIN4 silent D50D NM_006223 40-PAPXGT PIN4 SYNONYMOUS,INTRON SNP Somatic 12 0.537 SQHIGH 11 27 38 0 42 42 C C T C C TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 5303 X 71406342 71406342 39 OS diagnosis snv CFAP74 missense W305C NM_001080484 40-PARDAX CFAP74 MISSENSE SNP Somatic 14 0.565 SQHIGH 49 26 75 0 46 46 Cosmic_Gene C C G C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 85452 1 1902229 1902229 143 OS diagnosis snv PHGDH silent A336A NM_006623 40-PARDAX PHGDH SYNONYMOUS SNP Somatic 3 0.238 SQHIGH 19 37 56 2 46 48 Cosmic_Gene A A G A A TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 26227 1 120283071 120283071 40 OS diagnosis snv BCL9 missense P978L NM_004326 40-PARDAX BCL9 MISSENSE SNP Somatic 0 0.202 SQHIGH 29 49 78 0 31 31 Cosmic_Gene C C T C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 607 1 147094102 147094102 50 OS diagnosis snv URB2 missense C702W NM_014777 40-PARDAX URB2 MISSENSE SNP Somatic -31 0.010 5 22 27 0 46 46 Cosmic_Gene C C G C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 9816 1 229772466 229772466 23 OS diagnosis snv NBAS silent P2033P NM_015909 40-PARDAX NBAS SYNONYMOUS SNP Somatic 13 0.493 SQHIGH 13 29 42 0 38 38 Cosmic_Gene G G C G G TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 51594 2 15374716 15374716 41 OS diagnosis snv CNGA3 missense D452H NM_001298 40-PARDAX CNGA3 MISSENSE SNP Somatic 10 0.380 SQHIGH 30 48 78 0 65 65 Cosmic_Gene G G C G G TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 1261 2 99012987 99012987 93 OS diagnosis snv MAP3K2 missense P428L NM_006609 40-PARDAX MAP3K2 MISSENSE SNP Somatic 7 0.306 SQHIGH 11 24 35 0 23 23 Cosmic_Gene G G A G G TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 10746 2 128075248 128075248 27 OS diagnosis snv CYFIP2 silent L589L NM_001037333 40-PARDAX CYFIP2 SYNONYMOUS SNP Somatic PFAM:PF05994:FragX_IP 14 0.565 SQHIGH 33 8 41 1 45 46 C C A C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 26999 5 156751024 156751024 146 OS diagnosis snv LRRC16A missense D909Y NM_017640 40-PARDAX LRRC16A MISSENSE SNP Somatic 15 0.645 SQHIGH 24 28 52 0 34 34 Cosmic_Gene G G T G G TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 55604 6 25557061 25557061 65 OS diagnosis snv POM121L2 missense S746C NM_033482 40-PARDAX POM121L2 MISSENSE SNP Somatic 7 0.306 SQHIGH 16 41 57 0 51 51 G G C G G TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 94026 6 27277713 27277713 49 OS diagnosis snv VWDE splice K1053N NM_001135924 40-PARDAX VWDE MISSENSE SNP Somatic 0 0.202 SQHIGH 10 13 23 0 17 17 C C A C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 221806 7 12400773 12400773 29 OS diagnosis snv SPAM1 silent L249L NM_003117 40-PARDAX SPAM1 SYNONYMOUS SNP Somatic PFAM:PF01630:Glyco_hydro_56 13 0.493 SQHIGH 28 22 50 0 51 51 Cosmic_Gene C C A C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 6677 7 123594371 123594371 109 OS diagnosis snv SLC45A4 missense P13R NM_001080431 40-PARDAX SLC45A4 MISSENSE SNP Somatic 8 0.331 SQHIGH 24 81 105 0 51 51 Cosmic_Gene G G C G G TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 57210 8 142238328 142238328 46 OS diagnosis snv GKAP1 missense D22H NM_025211 40-PARDAX GKAP1 MISSENSE SNP Somatic 14 0.565 SQHIGH 14 3 17 0 22 22 C C G C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 80318 9 86421369 86421369 73 OS diagnosis snv NRG3-AS1 EXON E1_exon NM_001010848 40-PARDAX NRG3 INTRON SNP Somatic 3 0.238 SQHIGH 25 54 79 0 44 44 Cosmic_Gene T T C T T TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 10718 10 83992357 83992357 55 OS diagnosis snv DNHD1 missense L1596I NM_144666 40-PARDAX DNHD1 MISSENSE SNP Somatic 19 0.914 SQHIGH 23 14 37 0 37 37 Cosmic_Gene C C A C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 144132 11 6566955 6566955 91 OS diagnosis snv RB1 nonsense R556* NM_000321 40-PARDAX RB1 NONSENSE SNP dbsnp.133:rs121913304 Somatic PFAM:PF01858:RB_A 14 0.565 SQHIGH 12 3 15 0 31 31 COSMIC:mut:888 Cosmic_Gene C C T C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 5925 13 48955550 48955550 79 OS diagnosis snv TP53 missense V216M NM_000546 40-PARDAX TP53 MISSENSE SNP Somatic 18 0.860 SQHIGH 38 7 45 0 45 45 COSMIC:mut:10667 Cosmic_Gene C C T C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 7157 17 7578203 7578203 179 OS diagnosis snv TRIM47 missense S494R NM_033452 40-PARDAX TRIM47 MISSENSE SNP Somatic PFAM:PF00622:SPRY 6 0.282 SQHIGH 38 51 89 0 48 48 Cosmic_Gene G G C G G TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 91107 17 73870999 73870999 87 OS diagnosis snv ZNF880 missense H483Q NM_001145434 40-PARDAX ZNF880 MISSENSE SNP Somatic 13 0.493 SQHIGH 14 35 49 1 45 46 C C G C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 400713 19 52888282 52888282 35 OS diagnosis snv ZNF880 silent I485I NM_001145434 40-PARDAX ZNF880 SYNONYMOUS SNP Somatic 5 0.266 SQHIGH 14 39 53 0 41 41 C C A C C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 400713 19 52888288 52888288 39 OS diagnosis snv ELF4 missense R535T NM_001421 40-PARDAX ELF4 MISSENSE SNP Somatic 17 0.802 SQHIGH 17 9 26 0 18 18 Cosmic_Gene C G C TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 2000 X 129201084 129201084 53 OS diagnosis snv MMEL1 missense Q666E NM_033467 40-PARGTM MMEL1 MISSENSE SNP Somatic 0 0.158 SQHIGH 4 8 12 0 21 21 G G C G G TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 79258 1 2524277 2524277 19 OS diagnosis snv NOTCH2 missense D812N NM_024408 40-PARGTM NOTCH2 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA -4 0.117 SQHIGH 9 66 75 0 47 47 Cosmic_Gene C C T C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 4853 1 120493392 120493392 20 OS diagnosis snv NOTCH2 missense G808E NM_024408 40-PARGTM NOTCH2 MISSENSE SNP dbsnp.134:rs142078798 Somatic PFAM:PF07645:EGF_CA -4 0.117 SQHIGH 6 71 77 0 55 55 Cosmic_Gene C C T C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 4853 1 120493403 120493403 14 OS diagnosis snv CRTC2 splice_region S86_E3splice_region NM_181715 40-PARGTM CRTC2 ACCEPTOR SNP Somatic 6 0.266 SQHIGH 17 36 53 1 54 55 Cosmic_Gene C C T C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 200186 1 153927469 153927469 49 OS diagnosis snv IL1R1 nonsense Q521* NM_000877 40-PARGTM IL1R1 NONSENSE SNP Somatic PFAM:PF01582:TIR -7 0.094 SQHIGH 12 77 89 0 45 45 Cosmic_Gene C C T C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 3554 2 102793070 102793070 22 OS diagnosis snv KCNH8 missense R166Q NM_144633 40-PARGTM KCNH8 MISSENSE SNP Somatic -2 0.136 SQHIGH 5 8 13 0 12 12 Cosmic_Gene G G A G G TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 131096 3 19384133 19384133 16 OS diagnosis snv DGKG missense V148I NM_001346 40-PARGTM DGKG MISSENSE SNP Somatic -7 0.094 SQHIGH 9 61 70 0 43 43 Cosmic_Gene C C T C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 1608 3 186006601 186006601 20 OS diagnosis snv FETUB missense A176V NM_014375 40-PARGTM FETUB MISSENSE SNP dbsnp.134:rs149523201 Somatic 10 0.385 SQHIGH 21 32 53 0 35 35 Cosmic_Gene C C T C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 26998 3 186362642 186362642 55 OS diagnosis snv LAMA4 missense S1680R NM_001105206 40-PARGTM LAMA4|LOC100506408 MISSENSE|TSS-UPSTREAM SNP Somatic 12 0.465 SQHIGH 13 15 28 0 26 26 Cosmic_Gene T T G T T TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 3910|100506408 6 112437140 112437140 45 OS diagnosis snv MIR181A2 EXON E2_exon NM_033334 40-PARGTM NR6A1|MIR181B2|MIR181A2|MIR181A2HG INTRON|TSS-UPSTREAM|UTR|INTRON SNP Somatic -7 0.094 SQHIGH 4 12 16 0 21 21 Cosmic_Gene G G A G G TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 2649|406956|406954|100379345 9 127454803 127454803 hsa-miR-181a-2*:MIMAT0004558 16 OS diagnosis snv PRDM12 missense A188G NM_021619 40-PARGTM PRDM12 MISSENSE SNP Somatic PFAM:PF00856:SET 14 0.587 SQHIGH 11 28 39 0 66 66 C C G C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 59335 9 133543693 133543693 52 OS diagnosis snv OPTN missense E399A NM_001008211 40-PARGTM OPTN MISSENSE SNP Somatic 2 0.186 SQHIGH 6 22 28 0 36 36 Cosmic_Gene A A C A A TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 10133 10 13167993 13167993 23 OS diagnosis snv RPLP2 silent A83A NM_001004 40-PARGTM RPLP2 SYNONYMOUS SNP Somatic -9 0.081 SQHIGH 5 8 13 0 15 15 T T C T T TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 6181 11 812611 812611 19 OS diagnosis snv DNAH10 missense Q1677E NM_207437 40-PARGTM DNAH10 MISSENSE SNP Somatic 11 0.421 SQHIGH 12 28 40 0 34 34 Cosmic_Gene C C G C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 196385 12 124330169 124330169 36 OS diagnosis snv SNW1 missense L501F NM_012245 40-PARGTM SNW1 MISSENSE SNP Somatic -4 0.117 SQHIGH 8 52 60 0 51 51 Cosmic_Gene C C G C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 22938 14 78184539 78184539 22 OS diagnosis snv GPR68 missense R183C NM_003485 40-PARGTM GPR68 MISSENSE SNP dbsnp.134:rs149975079 Somatic PFAM:PF00001:7tm_1 5 0.240 SQHIGH 20 61 81 0 31 31 Cosmic_Gene G G A G G TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 8111 14 91700848 91700848 31 OS diagnosis snv IGDCC4 missense E457K NM_020962 40-PARGTM IGDCC4 MISSENSE SNP Somatic 17 0.831 SQHIGH 11 22 33 0 45 45 Cosmic_Gene C C T C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 57722 15 65688130 65688130 46 OS diagnosis snv LILRB5 missense P52A NM_001081442 40-PARGTM LILRB5 MISSENSE SNP Somatic -27 0.014 3 14 17 0 31 31 Cosmic_Gene G G C G G TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 10990 19 54760553 54760553 14 OS diagnosis snv PPARA missense I188F NM_001001928 40-PARGTM PPARA MISSENSE SNP Somatic 14 0.587 SQHIGH 32 29 61 0 88 88 Cosmic_Gene A A T A A TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 5465 22 46615762 46615762 152 OS diagnosis snv MTF1 missense T526P NM_005955 40-PARJXU MTF1 MISSENSE SNP Somatic 2 0.179 SQHIGH 11 47 58 0 37 37 Cosmic_Gene T T G T T TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 4520 1 38287984 38287984 25 OS diagnosis snv DNAJC6 nonsense R117* NM_014787 40-PARJXU DNAJC6 NONSENSE SNP Somatic 15 0.669 SQHIGH 33 33 66 1 46 47 Cosmic_Gene C C T C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 9829 1 65831856 65831856 84 OS diagnosis snv DUSP27 splice_region Q37_E2splice_region NM_001080426 40-PARJXU DUSP27 ACCEPTOR SNP Somatic 11 0.419 SQHIGH 116 58 174 0 70 70 Cosmic_Gene T T C T T TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 92235 1 167082939 167082939 251 OS diagnosis snv BCHE missense P297H NM_000055 40-PARJXU BCHE MISSENSE SNP Somatic PFAM:PF00135:COesterase 15 0.669 SQHIGH 22 20 42 0 41 41 Cosmic_Gene G G T G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 590 3 165547932 165547932 81 OS diagnosis snv USP13 missense S821C NM_003940 40-PARJXU USP13 MISSENSE SNP Somatic 18 0.882 SQHIGH 16 17 33 0 53 53 Cosmic_Gene A A T A A TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 8975 3 179499574 179499574 79 OS diagnosis snv BYSL silent R34R NM_004053 40-PARJXU MED20|BYSL TSS-UPSTREAM|SYNONYMOUS SNP Somatic 3 0.196 SQHIGH 21 52 73 0 44 44 G G A G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 9477|705 6 41889402 41889402 49 OS diagnosis snv BYSL silent I151I NM_004053 40-PARJXU BYSL SYNONYMOUS SNP Somatic PFAM:PF05291:Bystin -8 0.086 SQHIGH 10 70 80 0 66 66 C C A C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 705 6 41897891 41897891 27 OS diagnosis snv TPST1 nonsense Q368* NM_003596 40-PARJXU TPST1 NONSENSE SNP Somatic 15 0.669 SQHIGH 32 25 57 0 68 68 C C T C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 8460 7 65821818 65821818 138 OS diagnosis snv FAM200A missense E58D NM_145111 40-PARJXU FAM200A MISSENSE SNP Somatic 4 0.212 SQHIGH 11 44 55 0 40 40 C C G C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 221786 7 99145857 99145857 28 OS diagnosis snv FAM200A missense E29K NM_145111 40-PARJXU FAM200A MISSENSE SNP Somatic -7 0.093 SQHIGH 8 48 56 0 45 45 C C T C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 221786 7 99145946 99145946 22 OS diagnosis snv STAG3 silent Q628Q NM_012447 40-PARJXU STAG3|GATS SYNONYMOUS|UTR3,UTR SNP Somatic 18 0.882 SQHIGH 16 15 31 0 35 35 Cosmic_Gene A A G A A TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 10734|352954 7 99798415 99798415 65 OS diagnosis snv KIAA1147 silent P216P NM_001080392 40-PARJXU KIAA1147 SYNONYMOUS SNP Somatic PFAM:PF07792:Afi1 11 0.419 SQHIGH 7 17 24 1 21 22 Cosmic_Gene A A T A A TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 57189 7 141373900 141373900 15 OS diagnosis snv PSD3 splice A725_E10splice NM_015310 40-PARJXU PSD3 DISRUPT SNP Somatic 14 0.590 SQHIGH 10 12 22 0 36 36 Cosmic_Gene T T C T T TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 23362 8 18513197 18513197 49 OS diagnosis snv GBA2 missense P602Q NM_020944 40-PARJXU GBA2 MISSENSE SNP Somatic PFAM:PF04685:DUF608 -10 0.075 SQHIGH 8 64 72 0 46 46 Cosmic_Gene G G T G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 57704 9 35738891 35738891 18 OS diagnosis snv MUC2 splice_region V2196_E36splice_region NM_002457 40-PARJXU MUC2 ACCEPTOR SNP Somatic -1 0.141 SQHIGH 8 16 24 0 15 15 Cosmic_Gene G G T G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 4583 11 1097175 1097175 19 OS diagnosis snv PHOX2A missense A197E NM_005169 40-PARJXU PHOX2A MISSENSE SNP Somatic 7 0.294 SQHIGH 10 17 27 1 34 35 G G T G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 401 11 71951058 71951058 32 OS diagnosis snv APOA4 silent L106L NM_000482 40-PARJXU APOA4 SYNONYMOUS SNP Somatic PFAM:PF01442:Apolipoprotein -3 0.121 SQHIGH 10 18 28 0 40 40 G G A G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 337 11 116692458 116692458 43 OS diagnosis snv FAM186A missense R559H NM_001145475 40-PARJXU FAM186A MISSENSE SNP Somatic 11 0.419 SQHIGH 9 19 28 0 20 20 C C T C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 121006 12 50748939 50748939 24 OS diagnosis snv NR1H4 silent T288T NM_005123 40-PARJXU NR1H4 SYNONYMOUS SNP Somatic -4 0.114 SQHIGH 4 13 17 0 19 19 Cosmic_Gene G G A G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 9971 12 100930770 100930770 14 OS diagnosis snv CCDC168 missense E3093D NM_001146197 40-PARJXU CCDC168 MISSENSE SNP Somatic 5 0.232 SQHIGH 25 20 45 0 25 25 C C G C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 643677 13 103393768 103393768 63 OS diagnosis snv KLHL28 missense K118R NM_017658 40-PARJXU KLHL28 MISSENSE SNP Somatic PFAM:PF00651:BTB -6 0.100 SQHIGH 5 27 32 0 36 36 Cosmic_Gene T T C T T TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 54813 14 45414779 45414779 17 OS diagnosis snv KLHL28 missense Q116L NM_017658 40-PARJXU KLHL28 MISSENSE SNP Somatic PFAM:PF00651:BTB -9 0.081 SQHIGH 5 37 42 0 33 33 Cosmic_Gene T T A T T TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 54813 14 45414785 45414785 13 OS diagnosis snv SAMD15 missense S367L NM_001010860 40-PARJXU SAMD15|TMED8 MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.259 SQHIGH 20 74 95 0 80 80 C C T C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 161394|283578 14 77844861 77844861 58 OS diagnosis snv KANSL1 splice_region L430_E3splice_region NM_015443 40-PARJXU KANSL1 ACCEPTOR SNP Somatic 14 0.590 SQHIGH 20 17 37 0 33 33 Cosmic_Gene G G T G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 284058 17 44172075 44172075 70 OS diagnosis snv CACNA1G missense A1966S NM_018896 40-PARJXU CACNA1G INTRON,MISSENSE SNP Somatic -3 0.121 SQHIGH 10 37 47 0 32 32 Cosmic_Gene G G T G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 8913 17 48697158 48697158 24 OS diagnosis snv ITGB4 missense R5C NM_000213 40-PARJXU ITGB4 MISSENSE SNP dbsnp.134:rs141077392 Somatic -2 0.131 SQHIGH 11 53 64 0 31 31 Cosmic_Gene C C T C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 3691 17 73720796 73720796 20 OS diagnosis snv EEF2 silent I545I NM_001961 40-PARJXU EEF2 SYNONYMOUS SNP Somatic 12 0.466 SQHIGH 61 6 68 1 52 53 G G T G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 1938 19 3979405 3979405 252 OS diagnosis snv OR1M1 missense L36M NM_001004456 40-PARJXU OR1M1 MISSENSE SNP Somatic 5 0.232 SQHIGH 26 45 71 0 35 35 Cosmic_Gene C C A C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 125963 19 9204026 9204026 54 OS diagnosis snv ILVBL silent L349L NM_006844 40-PARJXU ILVBL SYNONYMOUS SNP Somatic PFAM:PF00205:TPP_enzyme_M -1 0.141 SQHIGH 14 80 94 0 68 68 Cosmic_Gene G G A G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 10994 19 15229983 15229983 35 OS diagnosis snv SYTL5 missense V404L NM_138780 40-PARJXU SYTL5 MISSENSE SNP Somatic 17 0.834 SQHIGH 53 46 99 0 64 64 Cosmic_Gene G G T G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 94122 X 37965900 37965900 149 OS diagnosis snv BCOR missense S1324P NM_017745 40-PARJXU BCOR MISSENSE SNP Somatic 5 0.232 SQHIGH 19 70 89 0 39 39 Cosmic_Gene A A G A A TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 54880 X 39922100 39922100 33 OS diagnosis snv ZMAT1 missense M342I NM_001011657 40-PARJXU ZMAT1 MISSENSE,UTR SNP Somatic 20 0.980 SQHIGH 26 6 32 0 63 63 Cosmic_Gene C C G C C TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 84460 X 101139373 101139373 172 OS diagnosis snv ALG13 missense V851L NM_001099922 40-PARJXU ALG13 MISSENSE,UTR SNP Somatic -8 0.086 SQHIGH 3 12 15 0 24 24 Cosmic_Gene G G C G G TARGET-40-PARJXU-01A-01D TARGET-40-PARJXU-10A-01D 79868 X 110979963 110979963 13 OS diagnosis snv IL12RB2 splice_region E573_E12splice_region NM_001559 40-PARKAF IL12RB2 INTRON SNP Somatic 7 0.306 SQHIGH 24 47 71 0 84 84 Cosmic_Gene A A C A A TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 3595 1 67838476 67838476 92 OS diagnosis snv KIRREL silent A105A NM_018240 40-PARKAF KIRREL SYNONYMOUS SNP Somatic PFAM:PF00047:ig 7 0.306 SQHIGH 19 22 41 0 41 41 Cosmic_Gene C C T C C TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 55243 1 158047893 158047893 69 OS diagnosis snv C1orf112 missense L328F NM_018186 40-PARKAF C1orf112 MISSENSE SNP Somatic 12 0.463 SQHIGH 12 25 37 0 22 22 G G C G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 55732 1 169796327 169796327 28 OS diagnosis snv IL1RN silent A149A NM_173842 40-PARKAF IL1RN SYNONYMOUS SNP Somatic 7 0.306 SQHIGH 18 49 67 0 55 55 Cosmic_Gene G G T G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 3557 2 113890361 113890361 52 OS diagnosis snv RAB3GAP1 missense R847W NM_012233 40-PARKAF RAB3GAP1 MISSENSE SNP dbsnp.134:rs148557417 Somatic 15 0.672 SQHIGH 22 26 48 0 39 39 Cosmic_Gene C C T C C TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 22930 2 135920604 135920604 69 OS diagnosis snv DCLK2 splice_region G567_E12splice_region NM_001040260 40-PARKAF DCLK2 ACCEPTOR SNP Somatic -9 0.087 SQHIGH 6 47 53 0 56 56 Cosmic_Gene C C G C C TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 166614 4 151161546 151161546 19 OS diagnosis snv ADAMTS2 silent D304D NM_014244 40-PARKAF ADAMTS2 SYNONYMOUS SNP dbsnp.134:rs147197558 Somatic 7 0.306 SQHIGH 15 59 74 1 53 54 Cosmic_Gene G G A G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 9509 5 178608136 178608136 29 OS diagnosis snv CIT silent S2016S NM_007174 40-PARKAF CIT SYNONYMOUS SNP Somatic 13 0.509 SQHIGH 9 24 33 0 35 35 Cosmic_Gene G G A G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 11113 12 120127968 120127968 31 OS diagnosis snv CCDC168 missense A4246G NM_001146197 40-PARKAF CCDC168 MISSENSE SNP Somatic 7 0.306 SQHIGH 22 63 85 0 77 77 G G C G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 643677 13 103390310 103390310 68 OS diagnosis snv ABHD17C silent P244P NM_021214 40-PARKAF ABHD17C SYNONYMOUS SNP Somatic PFAM:PF06342:DUF1057 PFAM:PF12695:Abhydrolase_5 14 0.581 SQHIGH 29 32 61 0 45 45 G G A G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 58489 15 81041995 81041995 86 OS diagnosis snv KIF2B silent V56V NM_032559 40-PARKAF KIF2B SYNONYMOUS SNP Somatic 18 0.883 SQHIGH 23 26 49 0 48 48 Cosmic_Gene C C T C C TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 84643 17 51900562 51900562 83 OS diagnosis snv MIER2 missense L146F NM_017550 40-PARKAF MIER2 MISSENSE SNP Somatic 7 0.306 SQHIGH 13 17 30 1 38 39 G G A G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 54531 19 327190 327190 45 OS diagnosis snv EMR1 silent G655G NM_001974 40-PARKAF EMR1 SYNONYMOUS SNP Somatic PFAM:PF00002:7tm_2 4 0.230 SQHIGH 24 47 71 0 78 78 Cosmic_Gene T T C T T TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 2015 19 6924862 6924862 88 OS diagnosis snv CEACAM18 splice Y225_E4splice NM_001278392 40-PARKAF CEACAM18 DISRUPT SNP Somatic 7 0.306 SQHIGH 15 30 45 0 46 46 Cosmic_Gene G G A G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 729767 19 51986270 51986270 52 OS diagnosis snv ZNF766 silent G155G NM_001010851 40-PARKAF ZNF766 SYNONYMOUS SNP Somatic -3 0.136 SQHIGH 7 48 55 0 52 52 G G A G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 90321 19 52793509 52793509 21 OS diagnosis snv MYO18B silent L41L NM_032608 40-PARKAF MYO18B SYNONYMOUS SNP Somatic 14 0.581 SQHIGH 40 39 79 0 83 83 Cosmic_Gene G G A G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 84700 22 26159281 26159281 155 OS diagnosis snv MYO18B missense S2124T NM_032608 40-PARKAF MYO18B MISSENSE SNP Somatic 9 0.356 SQHIGH 19 57 76 0 61 61 Cosmic_Gene G G C G G TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 84700 22 26400722 26400722 54 OS diagnosis snv OSBPL10 missense E658Q NM_017784 40-PASFCV OSBPL10 MISSENSE SNP Somatic PFAM:PF01237:Oxysterol_BP 6 0.292 SQHIGH 17 37 54 0 56 56 Cosmic_Gene C C G C C TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 114884 3 31710258 31710258 Somatic Illumina 59 27294 20605 47950 56105 3 56184 OS diagnosis snv TLL1 missense A859S NM_012464 40-PASFCV TLL1 MISSENSE SNP Somatic 17 0.881 SQHIGH 6 23 29 0 37 37 Cosmic_Gene G G T G G TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 7092 4 167012412 167012412 23 OS diagnosis snv FAT2 missense L875P NM_001447 40-PASFCV FAT2 MISSENSE SNP Somatic 0 0.146 SQHIGH 5 25 30 0 20 20 Cosmic_Gene A A G A A TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 2196 5 150945869 150945869 12 OS diagnosis snv RHAG splice_region P316_E7splice_region NM_000324 40-PASFCV RHAG ACCEPTOR SNP Somatic 6 0.292 SQHIGH 22 20 42 0 26 26 Cosmic_Gene A A G A A TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 6005 6 49578867 49578867 Somatic Illumina 59 25212 39540 64754 72326 26 72360 OS diagnosis snv TSPAN12 missense E4G NM_012338 40-PASFCV TSPAN12 MISSENSE SNP Somatic 15 0.731 SQHIGH 16 23 39 0 31 31 T T C T T TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 23554 7 120496807 120496807 Somatic Illumina 48 24574 12104 36680 48845 48 48896 OS diagnosis snv SEC16A missense P1923S NM_014866 40-PASFCV SEC16A MISSENSE SNP Somatic -3 0.104 SQHIGH 4 8 12 0 12 12 G G A G G TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 9919 9 139350143 139350143 13 OS diagnosis snv ANO5 silent S382S NM_213599 40-PASFCV ANO5 SYNONYMOUS SNP Somatic PFAM:PF04547:Anoctamin 15 0.731 SQHIGH 14 21 35 1 40 41 Cosmic_Gene A A T A A TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 203859 11 22272523 22272523 Somatic Illumina 45 62337 38277 100748 107221 7 107375 OS diagnosis snv CCDC33 missense E290D NM_025055 40-PASFCV CCDC33 MISSENSE SNP Somatic 6 0.292 SQHIGH 11 22 33 0 28 28 Cosmic_Gene G G C G G TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 80125 15 74572414 74572414 Somatic Illumina 33 74301 45558 119932 150723 10 150779 OS diagnosis snv CSPG4 missense H1788P NM_001897 40-PASFCV CSPG4 MISSENSE SNP Somatic -3 0.104 SQHIGH 12 28 40 1 26 27 Cosmic_Gene T T G T T TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 1464 15 75969497 75969497 Somatic Illumina 22 89755 43440 133428 167541 13 167759 OS diagnosis snv CTDNEP1 silent R53R NM_015343 40-PASFCV CTDNEP1|GABARAP|C17orf81 SYNONYMOUS|TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 10 0.433 SQHIGH 79 40 119 0 43 43 Cosmic_Gene C C T C C TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 23399|11337|23587 17 7150606 7150606 157 OS diagnosis snv ZNF224 missense N496K NM_013398 40-PASFCV ZNF224|LOC100379224 MISSENSE|UTR SNP Somatic 8 0.357 SQHIGH 26 32 58 0 62 62 Cosmic_Gene T T G T T TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 7767|100379224 19 44611801 44611801 Somatic Illumina 98 46535 21256 67807 77279 18 77313 OS diagnosis snv ZNF185 silent G293G NM_007150 40-PASFCV ZNF185 SYNONYMOUS,INTRON SNP Somatic 4 0.227 SQHIGH 10 28 38 0 23 23 Cosmic_Gene A A G A A TARGET-40-PASFCV-01A-01D TARGET-40-PASFCV-10A-01D 7739 X 152097170 152097170 Somatic Illumina 23 20427 7478 27917 31886 72 31973 OS diagnosis snv AJAP1 silent T237T NM_018836 40-PATMXR AJAP1 SYNONYMOUS SNP Somatic 5 0.254 SQHIGH 15 47 62 0 68 68 Cosmic_Gene C C T C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 55966 1 4772641 4772641 53 OS diagnosis snv TNFRSF1B missense G442E NM_001066 40-PATMXR TNFRSF1B MISSENSE SNP Somatic -5 0.108 SQHIGH 8 47 55 0 40 40 Cosmic_Gene G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 7133 1 12267016 12267016 20 OS diagnosis snv PRPF38A missense S268G NM_032864 40-PATMXR PRPF38A MISSENSE SNP Somatic 8 0.349 SQHIGH 9 19 28 0 15 15 A A G A A TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 84950 1 52880486 52880486 19 OS diagnosis snv USP24 missense A710V NM_015306 40-PATMXR USP24 MISSENSE SNP Somatic 9 0.378 SQHIGH 8 5 13 0 15 15 Cosmic_Gene G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 23358 1 55612723 55612723 34 OS diagnosis snv HAO2 missense K4N NM_001005783 40-PATMXR HAO2 INTRON,UTR5 SNP Somatic 7 0.321 SQHIGH 24 73 97 0 76 76 Cosmic_Gene G G C G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 51179 1 119923327 119923327 67 OS diagnosis snv CADM3-AS1 EXON E10_exon NM_021189 40-PATMXR LOC100131825|DARC|CADM3 UTR|TSS-UPSTREAM|UTR3 SNP Somatic -4 0.117 SQHIGH 12 16 28 0 29 29 Cosmic_Gene C C G C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 100131825|2532|57863 1 159170837 159170837 44 OS diagnosis snv SELE missense Y70H NM_000450 40-PATMXR SELE MISSENSE SNP Somatic 12 0.496 SQHIGH 17 22 39 0 46 46 Cosmic_Gene A A G A A TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 6401 1 169701969 169701969 68 OS diagnosis snv USH2A silent L4282L NM_206933 40-PATMXR USH2A SYNONYMOUS SNP Somatic PFAM:PF00041:fn3 16 0.754 SQHIGH 22 10 32 0 39 39 Cosmic_Gene C C T C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 7399 1 215848407 215848407 103 OS diagnosis snv TMEM63A missense P725A NM_014698 40-PATMXR TMEM63A MISSENSE SNP Somatic 2 0.194 SQHIGH 9 27 36 0 69 69 Cosmic_Gene G G C G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 9725 1 226036612 226036612 45 OS diagnosis snv OR2G3 missense D264E NM_001001914 40-PATMXR OR2G3 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -6 0.101 SQHIGH 9 46 55 0 36 36 Cosmic_Gene C C A C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 81469 1 247769679 247769679 21 OS diagnosis snv NBAS splice_region S70_E3splice_region NM_015909 40-PATMXR NBAS DONOR SNP Somatic 8 0.349 SQHIGH 8 14 22 0 25 25 Cosmic_Gene T T A T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 51594 2 15696903 15696903 30 OS diagnosis snv ALMS1 missense I3380S NM_015120 40-PATMXR ALMS1 MISSENSE SNP Somatic 4 0.233 SQHIGH 12 18 30 0 15 15 Cosmic_Gene T T G T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 7840 2 73784410 73784410 25 OS diagnosis snv CCDC150 missense Q1023K NM_001080539 40-PATMXR CCDC150 MISSENSE SNP Somatic 0 0.163 SQHIGH 9 45 54 0 41 41 C C A C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 284992 2 197595667 197595667 23 OS diagnosis snv SLC6A6 missense Y69H NM_003043 40-PATMXR SLC6A6 MISSENSE SNP Somatic PFAM:PF00209:SNF 17 0.852 SQHIGH 25 20 45 2 56 58 Cosmic_Gene T T C T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 6533 3 14485347 14485347 90 OS diagnosis snv P2RY13 silent A21A NM_176894 40-PATMXR P2RY13|MED12L SYNONYMOUS|INTRON SNP Somatic 11 0.451 SQHIGH 20 16 36 0 38 38 Cosmic_Gene T T G T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 53829|116931 3 151046781 151046781 79 OS diagnosis snv LRRC16A missense T434R NM_017640 40-PATMXR LRRC16A MISSENSE SNP Somatic 15 0.694 SQHIGH 24 6 30 0 34 34 Cosmic_Gene C C G C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 55604 6 25495419 25495419 116 OS diagnosis snv DOPEY1 missense T1394N NM_015018 40-PATMXR DOPEY1 MISSENSE SNP Somatic -1 0.149 SQHIGH 8 45 53 0 58 58 Cosmic_Gene C C A C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 23033 6 83847942 83847942 27 OS diagnosis snv CARD11 silent H606H NM_032415 40-PATMXR CARD11 SYNONYMOUS SNP Somatic 3 0.212 SQHIGH 11 44 55 0 60 60 Cosmic_Gene G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 84433 7 2963989 2963989 38 OS diagnosis snv ZNF804B silent G156G NM_181646 40-PATMXR ZNF804B SYNONYMOUS SNP Somatic 9 0.378 SQHIGH 18 18 36 0 33 33 Cosmic_Gene C C A C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 219578 7 88962764 88962764 63 OS diagnosis snv PKHD1L1 missense Q3918K NM_177531 40-PATMXR PKHD1L1 MISSENSE SNP Somatic 7 0.321 SQHIGH 11 35 46 0 49 49 Cosmic_Gene C C A C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 93035 8 110530458 110530458 38 OS diagnosis snv KIAA0196 missense Y330F NM_014846 40-PATMXR KIAA0196 MISSENSE SNP Somatic PFAM:PF10266:Strumpellin -7 0.092 SQHIGH 8 56 64 0 39 39 Cosmic_Gene T T A T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 9897 8 126085556 126085556 17 OS diagnosis snv KCNQ3 missense A356D NM_004519 40-PATMXR KCNQ3 MISSENSE SNP Somatic 15 0.694 SQHIGH 44 36 80 0 63 63 Cosmic_Gene G G T G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 3786 8 133184918 133184918 143 OS diagnosis snv MSMP missense E49Q NM_001044264 40-PATMXR GBA2|MSMP TSS-UPSTREAM|MISSENSE SNP Somatic 4 0.233 SQHIGH 16 50 66 0 54 54 Cosmic_Gene C C G C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 57704|692094 9 35753751 35753751 46 OS diagnosis snv PCSK5 splice_region V438_E11splice_region NM_006200 40-PATMXR PCSK5 ACCEPTOR SNP Somatic 14 0.614 SQHIGH 20 21 41 0 38 38 Cosmic_Gene C C T C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 5125 9 78771955 78771955 70 OS diagnosis snv COL27A1 missense G832S NM_032888 40-PATMXR COL27A1 MISSENSE SNP Somatic 4 0.233 SQHIGH 15 65 80 0 60 60 Cosmic_Gene G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 85301 9 116993386 116993386 39 OS diagnosis snv RALGPS1 missense G20D NM_014636 40-PATMXR RALGPS1 MISSENSE SNP Somatic -3 0.127 SQHIGH 3 8 11 0 24 24 Cosmic_Gene G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 9649 9 129728124 129728124 16 OS diagnosis snv GOLGA2 missense D116V NM_004486 40-PATMXR GOLGA2 MISSENSE SNP Somatic 18 0.895 SQHIGH 15 16 31 0 80 80 Cosmic_Gene T T A T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 2801 9 131030405 131030405 97 OS diagnosis snv NAP1L4 missense G320R NM_005969 40-PATMXR NAP1L4 MISSENSE SNP Somatic PFAM:PF00956:NAP 17 0.852 SQHIGH 15 24 39 0 48 48 Cosmic_Gene C C G C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 4676 11 2975834 2975834 60 OS diagnosis snv GANAB splice_region K48_E2splice_region NM_198334 40-PATMXR GANAB INTRON SNP Somatic 3 0.212 SQHIGH 10 45 55 0 70 70 Cosmic_Gene A A C A A TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 23193 11 62407092 62407092 38 OS diagnosis snv CHD4 missense E1315K NM_001273 40-PATMXR SCARNA11|CHD4|LOC100127974 TSS-UPSTREAM|MISSENSE|UTR SNP Somatic PFAM:PF06465:DUF1087 -4 0.117 SQHIGH 13 61 74 0 63 63 Cosmic_Gene C C T C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 677780|1108|100127974 12 6692481 6692481 37 OS diagnosis snv LGR5 missense G28A NM_003667 40-PATMXR LGR5 MISSENSE SNP Somatic 7 0.321 SQHIGH 9 21 30 0 42 42 Cosmic_Gene G G C G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 8549 12 71833943 71833943 38 OS diagnosis snv PXN splice_region D392_E8splice_region NM_002859 40-PATMXR PXN DONOR SNP Somatic 12 0.496 SQHIGH 9 26 35 0 69 69 Cosmic_Gene T T G T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 5829 12 120652624 120652624 46 OS diagnosis snv ACSM2B silent R5R NM_182617 40-PATMXR ACSM2B SYNONYMOUS SNP Somatic 11 0.451 SQHIGH 14 32 46 0 51 51 Cosmic_Gene T T C T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 348158 16 20576153 20576153 51 OS diagnosis snv KRT26 splice_region R281_E4splice_region NM_181539 40-PATMXR KRT26 DONOR SNP Somatic 16 0.754 SQHIGH 11 24 35 0 42 42 A A T A A TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 353288 17 38926207 38926207 42 OS diagnosis snv KRTAP29-1 missense S36N NM_001257309 40-PATMXR SNP Somatic 9 0.378 SQHIGH 13 25 38 0 40 40 C C T C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 17 39458997 39458997 46 OS diagnosis snv MYCBPAP missense N775I NM_032133 40-PATMXR MYCBPAP MISSENSE SNP Somatic 13 0.544 SQHIGH 25 30 55 1 79 80 Cosmic_Gene A A T A A TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 84073 17 48604673 48604673 103 OS diagnosis snv SLC9A3R1 missense A3T NM_004252 40-PATMXR SLC9A3R1 MISSENSE SNP Somatic 8 0.349 SQHIGH 13 13 26 0 18 18 G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 9368 17 72744992 72744992 37 OS diagnosis snv LAMA1 silent T2634T NM_005559 40-PATMXR LAMA1 SYNONYMOUS SNP Somatic 19 0.955 SQHIGH 28 6 34 0 42 42 Cosmic_Gene C C T C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 284217 18 6958538 6958538 146 OS diagnosis snv MC4R missense L44P NM_005912 40-PATMXR MC4R MISSENSE SNP Somatic 5 0.254 SQHIGH 15 49 64 0 56 56 Cosmic_Gene A A G A A TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 4160 18 58039452 58039452 45 OS diagnosis snv CACTIN missense R49G NM_001080543 40-PATMXR CACTIN MISSENSE SNP Somatic -9 0.079 SQHIGH 6 29 35 1 54 55 T T C T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 58509 19 3626616 3626616 19 OS diagnosis snv SARS2 missense S140F NM_001145901 40-PATMXR SARS2 INTRON,MISSENSE SNP Somatic 15 0.694 SQHIGH 28 34 62 0 61 61 Cosmic_Gene G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 54938 19 39412693 39412693 100 OS diagnosis snv SPHK2 missense D110H NM_020126 40-PATMXR SPHK2 MISSENSE SNP Somatic -2 0.138 SQHIGH 4 22 26 0 32 32 Cosmic_Gene G G C G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 56848 19 49129436 49129436 15 OS diagnosis snv CHGB missense L85M NM_001819 40-PATMXR CHGB MISSENSE SNP Somatic PFAM:PF01271:Granin 6 0.291 SQHIGH 15 41 56 0 51 51 Cosmic_Gene T T A T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 1114 20 5903043 5903043 47 OS diagnosis snv XKR7 missense R492H NM_001011718 40-PATMXR XKR7 MISSENSE SNP Somatic 6 0.291 SQHIGH 29 29 58 0 35 35 Cosmic_Gene G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 343702 20 30584995 30584995 75 OS diagnosis snv CLIC6 missense S322I NM_053277 40-PATMXR CLIC6 MISSENSE SNP Somatic -4 0.117 SQHIGH 9 11 20 0 20 20 Cosmic_Gene G G T G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 54102 21 36042652 36042652 32 OS diagnosis snv MICAL3 missense S1792I NM_015241 40-PATMXR MICAL3 MISSENSE SNP Somatic -5 0.108 SQHIGH 11 43 54 0 50 50 C C A C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 57553 22 18299526 18299526 34 OS diagnosis snv GRAP2 missense N135K NM_004810 40-PATMXR GRAP2 MISSENSE SNP Somatic 3 0.212 SQHIGH 17 33 50 0 46 46 Cosmic_Gene T T A T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 9402 22 40362108 40362108 55 OS diagnosis snv CELSR1 splice_region V2050_E16splice_region NM_014246 40-PATMXR CELSR1 ACCEPTOR SNP Somatic 15 0.694 SQHIGH 12 21 33 0 62 62 Cosmic_Gene G G C G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 9620 22 46787193 46787193 62 OS diagnosis snv LOC284933 EXON E1_exon NM_001082967 40-PATMXR LOC284933|FAM19A5 UTR|INTRON SNP Somatic -9 0.079 SQHIGH 9 40 49 2 67 69 Cosmic_Gene A A G A A TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 284933|25817 22 48934848 48934848 22 OS diagnosis snv MXRA5 nonsense L129* NM_015419 40-PATMXR MXRA5 NONSENSE SNP Somatic 3 0.212 SQHIGH 12 28 40 0 46 46 Cosmic_Gene A A C A A TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 25878 X 3248382 3248382 44 OS diagnosis snv GPR64 missense R581S NM_001079858 40-PATMXR GPR64 MISSENSE SNP Somatic PFAM:PF01825:GPS 12 0.496 SQHIGH 12 17 29 0 30 30 T T A T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 10149 X 19024216 19024216 43 OS diagnosis snv POLA1 splice_region V635_E18splice_region NM_016937 40-PATMXR POLA1 DONOR SNP Somatic 0 0.163 SQHIGH 7 33 40 0 30 30 Cosmic_Gene G G T G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 5422 X 24753610 24753610 18 OS diagnosis snv MAGEB5 missense A4T NM_001271752 40-PATMXR MAGEB5 MISSENSE SNP Somatic 10 0.413 SQHIGH 9 26 35 0 54 54 Cosmic_Gene G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 347541 X 26235428 26235428 40 OS diagnosis snv OGT missense S510N NM_181672 40-PATMXR OGT MISSENSE SNP Somatic 5 0.254 SQHIGH 22 39 61 0 45 45 Cosmic_Gene G G A G G TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 8473 X 70777449 70777449 61 OS diagnosis snv ATRX missense E1522K NM_000489 40-PATMXR ATRX MISSENSE SNP Somatic 8 0.349 SQHIGH 26 38 64 0 66 66 Cosmic_Gene C C T C C TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 546 X 76891541 76891541 94 OS diagnosis snv UBE2NL missense M65K NM_001012989 40-PATMXR UBE2NL MISSENSE SNP Somatic 6 0.291 SQHIGH 20 31 51 0 47 47 T T A T T TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 389898 X 142967396 142967396 66 OS diagnosis snv NPHP4 missense W394R NM_015102 40-PATPBS NPHP4 MISSENSE SNP Somatic 15 0.686 SQHIGH 29 25 54 0 37 37 Cosmic_Gene A A G A A TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 261734 1 5993329 5993329 85 OS diagnosis snv TNFRSF8 missense R109G NM_001243 40-PATPBS TNFRSF8 MISSENSE SNP Somatic -5 0.136 SQHIGH 9 54 63 0 63 63 Cosmic_Gene C C G C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 943 1 12164492 12164492 28 OS diagnosis snv COL16A1 missense G407R NM_001856 40-PATPBS COL16A1 MISSENSE SNP Somatic 15 0.686 SQHIGH 38 50 88 0 62 62 Cosmic_Gene C C T C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 1307 1 32157644 32157644 107 OS diagnosis snv ZNF362 silent P125P NM_152493 40-PATPBS ZNF362 SYNONYMOUS SNP Somatic 11 0.454 SQHIGH 13 34 47 0 21 21 G G A G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 149076 1 33745750 33745750 23 OS diagnosis snv CSMD2 missense L167P NM_052896 40-PATPBS CSMD2 MISSENSE SNP dbsnp.123:rs16836099 Somatic 6 0.308 SQHIGH 21 41 62 0 73 73 Cosmic_Gene A A G A A TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 114784 1 34401453 34401453 81 OS diagnosis snv CYB5RL missense E64K NM_001031672 40-PATPBS MRPL37|CYB5RL TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.341 SQHIGH 18 52 70 0 44 44 C C T C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 51253|606495 1 54661100 54661100 42 OS diagnosis snv CRP missense L13P NM_000567 40-PATPBS CRP MISSENSE SNP Somatic 4 0.263 SQHIGH 14 51 65 0 52 52 Cosmic_Gene A A G A A TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 1401 1 159684238 159684238 39 OS diagnosis snv KIAA2012 missense K86E NM_001277372 40-PATPBS KIAA2012 MISSENSE SNP Somatic -6 0.127 SQHIGH 8 61 69 0 53 53 A A G A A TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 100652824 2 202939785 202939785 21 OS diagnosis snv STT3B missense V657F NM_178862 40-PATPBS STT3B MISSENSE SNP Somatic PFAM:PF02516:STT3 -10 0.092 SQHIGH 10 6 16 0 33 33 G G T G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 201595 3 31667515 31667515 60 OS diagnosis snv ACAD11 missense T697N NM_032169 40-PATPBS ACAD11|NPHP3-ACAD11 MISSENSE|UTR SNP dbsnp.131:rs78134968 Somatic -7 0.116 SQHIGH 5 20 25 0 35 35 Cosmic_Gene G G T G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 84129|100532724 3 132279973 132279973 20 OS diagnosis snv AFAP1-AS1 EXON E15_exon NM_001134647 40-PATPBS AFAP1-AS1|AFAP1 UTR|INTRON SNP Somatic 3 0.244 SQHIGH 19 19 38 1 41 42 C C G C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 84740|60312 4 7774987 7774987 64 OS diagnosis snv ZNF879 missense R181K NM_001136116 40-PATPBS ZNF879 MISSENSE SNP Somatic 14 0.609 SQHIGH 12 13 25 0 44 44 Cosmic_Gene G G A G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 345462 5 178459491 178459491 62 OS diagnosis snv CNTFR silent T266T NM_147164 40-PATPBS CNTFR SYNONYMOUS SNP Somatic 12 0.494 SQHIGH 31 35 66 0 77 77 Cosmic_Gene G G T G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 1271 9 34552823 34552823 126 OS diagnosis snv FUT7 missense A88P NM_004479 40-PATPBS ABCA2|C9orf139|FUT7 TSS-UPSTREAM|INTRON|MISSENSE SNP Somatic PFAM:PF00852:Glyco_transf_10 6 0.308 SQHIGH 8 17 25 0 24 24 C C G C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 20|401563|2529 9 139925929 139925929 26 OS diagnosis snv OR10A5 silent F239F NM_178168 40-PATPBS OR10A5 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 7 0.341 SQHIGH 18 44 62 1 46 47 Cosmic_Gene C C T C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 144124 11 6867630 6867630 39 OS diagnosis snv SNX19 splice R949_E11splice NM_014758 40-PATPBS SNX19 DISRUPT SNP Somatic 17 0.839 SQHIGH 19 19 38 1 36 37 Cosmic_Gene T T A T T TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 399979 11 130748451 130748451 58 OS diagnosis snv MIP silent L28L NM_012064 40-PATPBS MIP SYNONYMOUS SNP Somatic 15 0.686 SQHIGH 10 29 39 0 55 55 Cosmic_Gene C C A C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 4284 12 56848314 56848314 42 OS diagnosis snv E2F7 missense E2D NM_203394 40-PATPBS E2F7 MISSENSE SNP Somatic 4 0.263 SQHIGH 9 13 22 0 25 25 Cosmic_Gene C C G C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 144455 12 77458410 77458410 34 OS diagnosis snv UHRF1BP1L missense D171V NM_015054 40-PATPBS UHRF1BP1L MISSENSE SNP Somatic 14 0.609 SQHIGH 28 13 41 0 52 52 Cosmic_Gene T T A T T TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 23074 12 100492146 100492146 134 OS diagnosis snv OAS2 missense E519Q NM_016817 40-PATPBS OAS2 MISSENSE SNP Somatic PFAM:PF10421:OAS1_C -2 0.170 SQHIGH 6 21 27 0 44 44 Cosmic_Gene G G C G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 4939 12 113444304 113444304 27 OS diagnosis snv DAOA-AS1 EXON E3_exon NM_172370 40-PATPBS DAOA-AS1|DAOA UTR|ACCEPTOR,INTRON SNP Somatic -2 0.170 SQHIGH 9 48 57 0 37 37 T T C T T TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 282706|267012 13 106142132 106142132 21 OS diagnosis snv SIPA1L1 silent L1122L NM_015556 40-PATPBS SIPA1L1 SYNONYMOUS SNP Somatic 7 0.341 SQHIGH 16 34 50 0 58 58 Cosmic_Gene A A G A A TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 26037 14 72152340 72152340 60 OS diagnosis snv C16orf59 missense L64V NM_025108 40-PATPBS C16orf59 MISSENSE SNP Somatic 8 0.365 SQHIGH 9 33 42 0 39 39 C C G C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 80178 16 2510688 2510688 28 OS diagnosis snv CD2BP2 silent A252A NM_006110 40-PATPBS CD2BP2 SYNONYMOUS,UTR SNP Somatic 20 0.980 SQHIGH 27 12 39 1 49 50 Cosmic_Gene A A C A A TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 10421 16 30364741 30364741 117 OS diagnosis snv TP53 missense R282W NM_000546 40-PATPBS TP53 MISSENSE SNP dbsnp.125:rs28934574 Somatic 13 0.539 SQHIGH 35 18 53 0 52 52 COSMIC:mut:99925,COSMIC:mut:10704 Cosmic_Gene G G A G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 7157 17 7577094 7577094 141 OS diagnosis snv AKAP1 silent V67V NM_003488 40-PATPBS AKAP1 SYNONYMOUS SNP Somatic 2 0.226 SQHIGH 9 39 48 0 42 42 Cosmic_Gene A A G A A TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 8165 17 55183026 55183026 26 OS diagnosis snv KIF19 splice G463_E12splice NM_153209 40-PATPBS KIF19 DISRUPT SNP Somatic 15 0.686 SQHIGH 27 18 45 0 50 50 G G C G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 124602 17 72346845 72346845 113 OS diagnosis snv MAPK4 silent G502G NM_002747 40-PATPBS MAPK4 SYNONYMOUS SNP Somatic 7 0.341 SQHIGH 7 12 19 0 35 35 Cosmic_Gene C C T C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 5596 18 48255966 48255966 35 OS diagnosis snv PRR22 silent D416D NM_001134316 40-PATPBS PRR22 SYNONYMOUS SNP Somatic 17 0.839 SQHIGH 33 16 49 0 36 36 G G A G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 163154 19 5783010 5783010 111 OS diagnosis snv MUC16 missense L13511I NM_024690 40-PATPBS MUC16 MISSENSE SNP Somatic PFAM:PF01390:SEA 15 0.686 SQHIGH 50 22 72 0 69 69 Cosmic_Gene G G T G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 94025 19 9000453 9000453 204 OS diagnosis snv USHBP1 missense Q654K NM_031941 40-PATPBS USHBP1 MISSENSE SNP Somatic 4 0.263 SQHIGH 34 36 70 0 41 41 Cosmic_Gene G G T G G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 83878 19 17361186 17361186 86 OS diagnosis snv TGM2 missense R240H NM_004613 40-PATPBS TGM2 MISSENSE SNP Somatic 3 0.244 SQHIGH 6 32 38 0 41 41 Cosmic_Gene C C T C C TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 7052 20 36775259 36775259 20 OS diagnosis snv MYH9 missense E1735G NM_002473 40-PATPBS MYH9 MISSENSE SNP Somatic PFAM:PF01576:Myosin_tail_1 4 0.263 SQHIGH 14 58 72 0 48 48 Cosmic_Gene T T C T T TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 4627 22 36681774 36681774 34 OS diagnosis snv ACOT9 splice V370_E15splice NM_001037171 40-PATPBS ACOT9 DISRUPT SNP Somatic 3 0.244 SQHIGH 14 7 21 0 18 18 Cosmic_Gene T A T TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 23597 X 23722963 23722963 51 OS diagnosis complex SEC61A2 frameshift L216_H218fs NM_018144 40-PATPBS SEC61A2 FRAMESHIFT,UTR Sub Somatic PFAM:PF00344:SecY 5 0.970 SQHIGH 19 13 32 0 50 50 Cosmic_Gene TGTTCCA TGTTCCA TC TGTTCCA TGTTCCA TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 55176 10 12198936 12198942 98 OS diagnosis complex CCT8L2 frameshift H179_L180fs NM_014406 40-PATPBS CCT8L2 NONSENSE Sub Somatic PFAM:PF00118:Cpn60_TCP1 -9 0.311 SQHIGH 6 28 34 1 44 45 Cosmic_Gene AAG AAG ATGGTCCA AAG AAG TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 150160 22 17072902 17072904 16 OS diagnosis ins CCDC175 frameshift N632fs NM_001164399 40-0A4I9K CCDC175 FRAMESHIFT Ins Somatic -7 0.304 SQHIGH 11 27 38 1 38 39 Cosmic_Gene T TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 729665 14 59992099 59992099 29 OS diagnosis ins SLC24A1 splice E1_splice NM_001301033 40-0A4I9K C15orf44 TSS-UPSTREAM Ins Somatic -5 0.398 SQHIGH 14 21 35 0 46 46 Cosmic_Gene TGAAA TARGET-40-0A4I9K-01A-01D TARGET-40-0A4I9K-10A-01D 81556 15 65904106 65904106 59 OS diagnosis del CCDC15 proteinDel L73_Q77del NM_025004 40-PAKFVX CCDC15 DELETE Del Somatic 0 0.576 SQHIGH 16 43 59 0 62 62 Cosmic_Gene CTAAGAAAAAAACAA CTAAGAAAAAAACAA CTAAGAAAAAAACAA CTAAGAAAAAAACAA TARGET-40-PAKFVX-01A-01D TARGET-40-PAKFVX-10A-01D 80071 11 124829050 124829064 55 OS diagnosis del CNKSR1 frameshift R265fs NM_006314 40-PALFYN CNKSR1 FRAMESHIFT,UTR Del Somatic -5 0.276 SQHIGH 7 30 37 0 16 16 Cosmic_Gene C C C C TARGET-40-PALFYN-01A-01D TARGET-40-PALFYN-10A-01D 10256 1 26510259 26510259 12 OS diagnosis del ACAD10 proteinDel V257del NM_001136538 40-PALHRL ACAD10 DELETE,INTRON Del Somatic 0 0.519 SQHIGH 8 26 34 0 36 36 Cosmic_Gene GTG GTG GTG GTG TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 80724 12 112148155 112148157 Somatic Illumina 27 2982 1894 4901 4935 0 4961 OS diagnosis ins TOP1 frameshift K299fs NM_003286 40-PALHRL TOP1 FRAMESHIFT Ins Somatic 4 0.899 SQHIGH 23 27 50 0 31 31 Cosmic_Gene A TARGET-40-PALHRL-01A-01D TARGET-40-PALHRL-10A-01D 7150 20 39726896 39726896 Somatic Illumina 59 42174 37103 79481 94152 0 94362 OS diagnosis del AQPEP frameshift D907fs NM_173800 40-PALKDP AQPEP FRAMESHIFT Del Somatic 1 0.513 SQHIGH 18 19 37 0 33 33 G G G G TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 206338 5 115351425 115351425 Somatic Illumina 61 20908 15395 36344 43355 0 43379 OS diagnosis ins WNK3 frameshift T1025fs NM_020922 40-PALKDP WNK3 FRAMESHIFT Ins Somatic -8 0.199 SQHIGH 9 40 49 1 42 43 Cosmic_Gene T TARGET-40-PALKDP-01A-01D TARGET-40-PALKDP-10A-01D 65267 X 54275707 54275707 TumorFP Illumina 19 29166 0 29229 31160 0 31218 OS diagnosis del OR4C11 proteinDel R288_K293>K NM_001004700 40-PALWWX OR4C11 DELETE Del Somatic 1 0.555 SQHIGH 15 48 63 1 69 70 Cosmic_Gene TCACTTCTGCATTCC TCACTTCTGCATTCC TCACTTCTGCATTCC TCACTTCTGCATTCC TARGET-40-PALWWX-01A-01D TARGET-40-PALWWX-10A-01D 219429 11 55370973 55370987 43 OS diagnosis ins MYSM1 frameshift G278fs NM_001085487 40-PAMEKS MYSM1 FRAMESHIFT Ins Somatic -7 0.282 SQHIGH 8 38 46 0 37 37 Cosmic_Gene C TARGET-40-PAMEKS-01A-01D TARGET-40-PAMEKS-10A-01D 114803 1 59147882 59147882 22 OS diagnosis ins ARID2 frameshift V622fs NM_152641 40-PANGPE ARID2 FRAMESHIFT Ins Somatic -7 0.281 SQHIGH 5 19 24 0 20 20 Cosmic_Gene A TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 196528 12 46243511 46243511 14 OS diagnosis del CREBBP frameshift P1878fs NM_004380 40-PANGPE CREBBP FRAMESHIFT Del Somatic -6 0.257 SQHIGH 5 21 26 0 30 30 Cosmic_Gene G G G G TARGET-40-PANGPE-01A-01D TARGET-40-PANGPE-10A-01D 1387 16 3779415 3779415 18 OS diagnosis ins MUC16 frameshift S650fs NM_024690 40-PANPUM MUC16 FRAMESHIFT Ins Somatic -7 0.237 SQHIGH 13 58 71 0 18 18 Cosmic_Gene TG TARGET-40-PANPUM-01A-01D TARGET-40-PANPUM-10A-01D 94025 19 9089864 9089864 14 OS diagnosis del NEURL4 frameshift V106fs NM_032442 40-PANXSC NEURL4 NONSENSE Del Somatic PFAM:PF07177:Neuralized 4 0.851 SQHIGH 16 41 57 1 38 39 Cosmic_Gene C C C C TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 84461 17 7231170 7231170 Somatic Illumina 31 4407 1687 6106 9746 0 9760 OS diagnosis del NOL11 splice S468_E13splice NM_015462 40-PANXSC SNORA38B|NOL11 TSS-UPSTREAM|ACCEPTOR Del Somatic 0 0.510 SQHIGH 8 30 38 0 32 32 TCTT TCTT TCTT TCTT TARGET-40-PANXSC-01A-01D TARGET-40-PANXSC-10A-01D 100124536|25926 17 65733957 65733960 23 OS diagnosis del CNKSR1 frameshift R265fs NM_006314 40-PAPNVD CNKSR1 FRAMESHIFT,UTR Del Somatic -6 0.277 SQHIGH 5 14 19 0 14 14 Cosmic_Gene C C C C TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 10256 1 26510259 26510259 13 OS diagnosis del F12 frameshift G504_W505fs NM_000505 40-PAPNVD F12|PFN3 FRAMESHIFT|TSS-UPSTREAM Del Somatic -3 0.338 SQHIGH 13 9 22 1 23 24 CCAG CCAG CCAG CCAG TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 2161|345456 5 176830271 176830274 Somatic Illumina 43 1898 7283 9255 9500 1 9541 OS diagnosis del KRT73-AS1 EXON E7_exon NM_175068 40-PAPNVD KRT73 INTRON Del Somatic -9 0.239 SQHIGH 12 4 16 0 7 7 Cosmic_Gene TGTTTGTT TGTTTGTT TGTTTGTT TGTTTGTT TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 319101 12 53003847 53003854 29 OS diagnosis del ZACN proteinDel D167_N170>D NM_180990 40-PAPNVD ZACN DELETE Del Somatic PFAM:PF02931:Neur_chan_LBD 0 0.448 SQHIGH 10 34 44 0 37 37 ACCACAGCA ACCACAGCA ACCACAGCA ACCACAGCA TARGET-40-PAPNVD-01A-01D TARGET-40-PAPNVD-10A-01D 353174 17 74076461 74076469 29 OS diagnosis del PTEN frameshift P248_V249fs NM_000314 40-PAPXGT PTEN NONSENSE Del Somatic PFAM:PF10409:PTEN_C2 0 0.581 SQHIGH 11 9 20 0 38 38 COSMIC:mut:4912 Cosmic_Gene TG TG TG TG TARGET-40-PAPXGT-01A-01D TARGET-40-PAPXGT-10A-01D 5728 10 89717719 89717720 Somatic Illumina 61 57574 56069 114552 120364 61 121402 OS diagnosis del ZMYM6 splice_region E32_E3splice_region NM_007167 40-PARDAX ZMYM6 ACCEPTOR Del dbsnp.120:rs11476279,dbsnp.120:rs11476047 Somatic -3 0.344 SQHIGH 13 11 24 1 12 13 Cosmic_Gene A A A A TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 9204 1 35486073 35486073 22 OS diagnosis del IL1RN frameshift L6fs NM_173841 40-PARDAX IL1RN FRAMESHIFT,INTRON Del Somatic 0 0.436 SQHIGH 4 22 26 0 30 30 Cosmic_Gene G G G G TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 3557 2 113877650 113877650 14 OS diagnosis del OTUD4 frameshift N80fs NM_017493 40-PARDAX OTUD4 FRAMESHIFT Del Somatic PFAM:PF02338:OTU 2 0.596 SQHIGH 14 9 23 0 36 36 Cosmic_Gene T T T T TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 54726 4 146083854 146083854 72 OS diagnosis del ADCK2 frameshift V478fs NM_052853 40-PARDAX ADCK2 FRAMESHIFT Del Somatic PFAM:PF03109:ABC1 -2 0.367 SQHIGH 7 24 31 0 32 32 G G G G TARGET-40-PARDAX-01A-01D TARGET-40-PARDAX-10A-01D 90956 7 140386918 140386918 23 OS diagnosis ins DLEC1 frameshift R331fs NM_007335 40-PARGTM DLEC1 FRAMESHIFT Ins Somatic -9 0.219 SQHIGH 22 80 102 2 72 74 Cosmic_Gene T TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 9940 3 38104190 38104190 38 OS diagnosis del MGA frameshift Q904fs NM_001164273 40-PARGTM MGA FRAMESHIFT Del Somatic 3 0.741 SQHIGH 25 24 49 0 38 38 Cosmic_Gene C C C C TARGET-40-PARGTM-01A-01D TARGET-40-PARGTM-10A-01D 23269 15 42003173 42003173 78 OS diagnosis ins MFAP3L proteinIns R251>IW NM_021647 40-PARKAF MFAP3L INSERT+ Ins Somatic 3 0.820 SQHIGH 38 65 103 0 70 70 Cosmic_Gene AGA TARGET-40-PARKAF-01A-01D TARGET-40-PARKAF-10A-01D 9848 4 170913007 170913007 101 OS diagnosis del FAM20B proteinDel V120del NM_014864 40-PATMXR FAM20B DELETE Del Somatic 3 0.761 SQHIGH 17 52 69 0 61 61 Cosmic_Gene GTT GTT GTT GTT TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 9917 1 179013340 179013342 51 OS diagnosis del PER2 proteinDel A221_L231>V NM_022817 40-PATMXR PER2 DELETE+ Del Somatic 3 0.761 SQHIGH 35 82 117 0 150 150 Cosmic_Gene GGAACTCCACAAACTTGGCATCGCTGAAGG GGAACTCCACAAACTTGGCATCGCTGAAGG GGAACTCCACAAACTTGGCATCGCTGAAGG GGAACTCCACAAACTTGGCATCGCTGAAGG TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 8864 2 239180034 239180063 140 OS diagnosis del COL7A1 frameshift R2765_G2766fs NM_000094 40-PATMXR UCN2|COL7A1 TSS-UPSTREAM|FRAMESHIFT Del Somatic 3 0.761 SQHIGH 11 46 57 1 64 65 Cosmic_Gene CT CT CT CT TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 90226|1294 3 48604101 48604102 30 OS diagnosis del SRCAP frameshift Q1698fs NM_006662 40-PATMXR SRCAP FRAMESHIFT Del Somatic 4 0.871 SQHIGH 40 56 96 0 91 91 Cosmic_Gene AG AG AG AG TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 10847 16 30735838 30735839 138 OS diagnosis del SGTA splice_region V34_E3splice_region NM_003021 40-PATMXR SGTA ACCEPTOR Del Somatic 3 0.761 SQHIGH 10 33 43 0 70 70 Cosmic_Gene GG GG GG GG TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 6449 19 2767692 2767693 45 OS diagnosis del ST13 frameshift Q229_K230fs NM_003932 40-PATMXR ST13 FRAMESHIFT Del Somatic 2 0.661 SQHIGH 13 32 45 0 52 52 TC TC TC TC TARGET-40-PATMXR-01A-01D TARGET-40-PATMXR-10A-01D 6767 22 41226954 41226955 48 OS diagnosis ins EN1 frameshift R326fs NM_001426 40-PATPBS EN1 FRAMESHIFT Ins Somatic -5 0.381 SQHIGH 10 25 35 2 32 34 Cosmic_Gene G TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 2019 2 119600716 119600716 19 OS diagnosis del PLXNA4 frameshift D57_G61fs NM_020911 40-PATPBS PLXNA4 FRAMESHIFT Del Somatic PFAM:PF01403:Sema 0 0.471 SQHIGH 21 99 120 0 71 71 Cosmic_Gene TCCTGTCCTCTCA TCCTGTCCTCTCA TCCTGTCCTCTCA TCCTGTCCTCTCA TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 91584 7 132193270 132193282 46 OS diagnosis del ITPK1-AS1 EXON E3_exon NM_014216 40-PATPBS ITPK1-AS1|ITPK1 UTR|INTRON Del Somatic -4 0.323 SQHIGH 13 16 29 1 17 18 AC AC AC AC TARGET-40-PATPBS-01A-01D TARGET-40-PATPBS-10A-01D 319085|3705 14 93538050 93538051 24 WT diagnosis snv ARHGAP29 missense H772Y NM_004815 50-CAAAAA ARHGAP29 MISSENSE SNP Somatic 9 0.395 SQHIGH 12 9 21 0 30 30 Cosmic_Gene G G A G G TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 9411 1 94645447 94645447 BadAssay Sanger 57 0 0 0 0 0 0 WT diagnosis snv SUGCT missense R230P NM_024728 50-CAAAAA C7orf10 MISSENSE SNP Somatic PFAM:PF02515:CoA_transf_3 14 0.666 SQHIGH 10 10 20 0 23 23 Cosmic_Gene G G C G G TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 79783 7 40356417 40356417 Somatic Illumina 40 37120 28670 65821 75620 10 75656 WT diagnosis snv ANK3 missense K1676Q NM_020987 50-CAAAAA ANK3 INTRON,MISSENSE SNP Somatic -8 0.076 SQHIGH 4 23 27 0 33 33 Cosmic_Gene T T G T T TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 288 10 61835613 61835613 14 WT diagnosis snv HOGA1 missense A132V NM_138413 50-CAAAAA HOGA1 INTRON,MISSENSE SNP Somatic 6 0.277 SQHIGH 33 40 73 0 93 93 C C T C C TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 112817 10 99358900 99358900 Somatic Illumina 140 40511 25067 65630 58768 35 58846 WT diagnosis snv PGM2L1 missense K392N NM_173582 50-CAAAAA PGM2L1 MISSENSE SNP Somatic -37 0.001 3 13 16 0 51 51 Cosmic_Gene T T G T T TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 283209 11 74056556 74056556 19 WT diagnosis snv TAS2R30 missense E151D NM_001097643 50-CAAAAA PRH1-PRR4|TAS2R30 INTRON|MISSENSE SNP Somatic PFAM:PF03402:V1R 7 0.322 SQHIGH 36 52 88 0 98 98 C C A C C TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 100533464|259293 12 11286391 11286391 Somatic Illumina 138 18677 4897 23580 25848 4 25860 WT diagnosis snv FMN1 missense Q389E NM_001103184 50-CAAAAA FMN1 MISSENSE SNP Somatic 6 0.277 SQHIGH 27 37 64 0 69 69 Cosmic_Gene G G C G G TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 342184 15 33358921 33358921 Somatic Illumina 101 180151 114550 294803 282775 6 282875 WT diagnosis snv CLN3 missense L428F NM_001042432 50-CAAAAA CLN3 MISSENSE SNP Somatic PFAM:PF02487:CLN3 1 0.151 SQHIGH 30 84 114 1 75 76 C C G C C TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 1201 16 28488870 28488870 Somatic Illumina 62 107227 26759 134097 102703 2 102804 WT diagnosis snv PIEZO2 missense G383A NM_022068 50-CAAAAA PIEZO2 MISSENSE SNP Somatic -9 0.072 SQHIGH 10 21 31 0 27 27 C C G C C TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 63895 18 10803925 10803925 Somatic Illumina 31 92236 55197 147475 142425 4 142462 WT diagnosis snv MLLT1 missense E392Q NM_005934 50-CAAAAA MLLT1 MISSENSE SNP Somatic 13 0.599 SQHIGH 23 8 31 1 33 34 Cosmic_Gene C C G C C TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 4298 19 6217989 6217989 Somatic Illumina 92 66720 152217 219001 210286 4 210378 WT diagnosis snv KCNA7 silent S387S NM_031886 50-CAAAAA KCNA7 SYNONYMOUS SNP Somatic PFAM:PF00520:Ion_trans PFAM:PF07885:Ion_trans_2 14 0.666 SQHIGH 50 38 88 0 81 81 Cosmic_Gene G G A G G TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 3743 19 49573530 49573530 183 WT diagnosis snv APOL1 missense V98L NM_003661 50-CAAAAA APOL1 MISSENSE SNP Somatic PFAM:PF05461:ApoL -4 0.103 SQHIGH 6 6 12 0 35 35 Cosmic_Gene G G C G G TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 8542 22 36657746 36657746 41 WT diagnosis snv FAM9A splice K278E NM_001171186 50-CAAAAA FAM9A MISSENSE SNP Somatic 11 0.487 SQHIGH 15 7 22 0 32 32 T T C T T TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 171482 X 8761797 8761797 Somatic Illumina 77 25491 19812 45331 53727 30 53792 WT diagnosis snv REPS2 splice_region W324_E8splice_region NM_004726 50-CAAAAA REPS2 ACCEPTOR SNP Somatic 5 0.235 SQHIGH 24 51 75 0 91 91 Cosmic_Gene T T C T T TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 9185 X 17072926 17072926 Somatic Illumina 93 15626 11589 27221 29405 16 29431 WT diagnosis snv SHROOM4 silent P318P NM_020717 50-CAAAAA SHROOM4 SYNONYMOUS,UTR SNP Somatic 0 0.138 SQHIGH 54 61 115 0 83 83 Cosmic_Gene G G A G G TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 57477 X 50378119 50378119 Somatic Illumina 158 90752 68589 159462 143265 53 143435 WT diagnosis snv CRNN splice K47_E3splice NM_016190 50-CAAAAB CRNN ACCEPTOR SNP Somatic 14 0.686 SQHIGH 45 32 77 0 43 43 Cosmic_Gene G G A G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 49860 1 152383422 152383422 Somatic Illumina 117 9098 14176 23287 30085 12 30118 WT diagnosis snv SHISA5 missense L240F NM_016479 50-CAAAAB SHISA5 MISSENSE SNP Somatic 9 0.421 SQHIGH 27 25 52 0 60 60 G G A G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 51246 3 48510511 48510511 Somatic Illumina 111 13759 11431 25196 24373 14 24397 WT diagnosis snv PDZRN3 silent S843S NM_015009 50-CAAAAB PDZRN3 SYNONYMOUS SNP Somatic -4 0.080 SQHIGH 33 13 46 0 24 24 Cosmic_Gene G G A G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 23024 3 73433188 73433188 Somatic Illumina 90 109684 90401 200106 196298 48 196365 WT diagnosis snv CCDC80 silent D844D NM_199511 50-CAAAAB CCDC80 SYNONYMOUS SNP Somatic 10 0.462 SQHIGH 25 33 58 0 48 48 Cosmic_Gene G G A G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 151887 3 112324585 112324585 Somatic Illumina 79 67961 56212 124262 145355 53 145502 WT diagnosis snv CPB1 missense A276S NM_001871 50-CAAAAB CPB1 MISSENSE SNP Somatic 0 0.118 SQHIGH 10 10 20 0 16 16 Cosmic_Gene G G T G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 1360 3 148563258 148563258 Somatic Illumina 31 4535 3664 8201 16980 0 16985 WT diagnosis snv LOC101927550 EXON E16_exon NM_020429 50-CAAAAB SMURF1 INTRON SNP Somatic 2 0.163 SQHIGH 31 52 83 0 97 97 Cosmic_Gene C C A C C TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 57154 7 98633961 98633961 120 WT diagnosis snv UBAP2 silent K105K NM_018449 50-CAAAAB UBAP2 SYNONYMOUS SNP Somatic 1 0.136 SQHIGH 29 57 86 0 67 67 Cosmic_Gene C C T C C TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 55833 9 33989098 33989098 Somatic Illumina 83 25153 10009 35407 57914 8 57930 WT diagnosis snv MYO3A missense S1355G NM_017433 50-CAAAAB MYO3A MISSENSE SNP Somatic 9 0.421 SQHIGH 41 29 70 0 81 81 Cosmic_Gene A A G A A TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 53904 10 26463256 26463256 Somatic Illumina 176 8365 7830 16202 23527 41 23582 WT diagnosis snv CFAP46 missense L2714V NM_001200049 50-CAAAAB CFAP46 MISSENSE SNP Somatic 10 0.462 SQHIGH 14 33 47 0 32 32 A A C A A TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 54777 10 134621933 134621933 Somatic Illumina 36 10944 9926 20881 26495 3 26517 WT diagnosis snv PDE3B missense G768E NM_000922 50-CAAAAB PDE3B MISSENSE SNP Somatic -4 0.080 SQHIGH 5 10 15 0 21 21 G G A G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 5140 11 14856624 14856624 21 WT diagnosis snv SLC1A2 missense R36G NM_004171 50-CAAAAB SLC1A2 MISSENSE SNP Somatic 0 0.118 SQHIGH 5 33 38 1 54 55 Cosmic_Gene G G C G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 6506 11 35338975 35338975 14 WT diagnosis snv LOC100506606 EXON E2_exon NM_018099 50-CAAAAB LOC100506606|FAR2 UTR|INTRON SNP Somatic 7 0.346 SQHIGH 19 55 74 1 61 62 G G A G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 100506606|55711 12 29434003 29434003 45 WT diagnosis snv SCN8A silent S1666S NM_014191 50-CAAAAB SCN8A|FLJ33996 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF00520:Ion_trans -2 0.095 SQHIGH 17 80 97 0 86 86 Cosmic_Gene C C T C C TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 6334|283401 12 52200268 52200268 Somatic Illumina 50 26061 6762 32841 37358 9 37386 WT diagnosis snv RFX4 splice K114K NM_001206691 50-CAAAAB RFX4|LOC100287944 SYNONYMOUS|INTRON SNP Somatic PFAM:PF02257:RFX_DNA_binding 13 0.624 SQHIGH 30 31 61 0 53 53 Cosmic_Gene G G A G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 5992|100287944 12 107048129 107048129 Somatic Illumina 101 47625 35771 83432 90842 85 90965 WT diagnosis snv DDX24 missense K815N NM_020414 50-CAAAAB DDX24 MISSENSE SNP Somatic 14 0.686 SQHIGH 40 4 44 1 49 50 Cosmic_Gene C C G C C TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 57062 14 94517672 94517672 Somatic Illumina 200 15162 111521 126735 103098 2 103135 WT diagnosis snv TP53 missense R248W NM_000546 50-CAAAAB TP53 MISSENSE SNP dbsnp.133:rs121912651 Somatic 13 0.624 SQHIGH 29 2 31 1 69 70 COSMIC:mut:10656 Cosmic_Gene G A A G G TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 7157 17 7577539 7577539 Somatic Illumina 211 8074 42980 51076 56996 19 57054 WT diagnosis snv GABRQ missense T446N NM_018558 50-CAAAAB GABRQ MISSENSE SNP Somatic 12 0.571 SQHIGH 40 38 78 0 56 56 Cosmic_Gene C C A C C TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 55879 X 151821182 151821182 Somatic Illumina 119 15814 11712 27536 40816 2 40823 WT diagnosis snv TMEM57 silent A619A NM_018202 50-CAAAAC TMEM57 SYNONYMOUS SNP Somatic PFAM:PF09726:Macoilin 2 0.164 SQHIGH 16 37 53 0 45 45 C C T C C TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 55219 1 25824819 25824819 Somatic Illumina 48 90287 37689 127994 124669 100 124778 WT diagnosis snv COL6A3 missense V2429M NM_004369 50-CAAAAC COL6A3 MISSENSE SNP Somatic 7 0.348 SQHIGH 22 32 54 0 43 43 Cosmic_Gene C C T C C TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 1293 2 238253376 238253376 Somatic Illumina 66 40989 18070 59069 50532 17 50553 WT diagnosis snv FAM132B missense V86D NM_001291832 50-CAAAAC FAM132B TSS-UPSTREAM SNP Somatic -1 0.103 SQHIGH 13 38 51 0 55 55 T T A T T TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 151176 2 239070293 239070293 Somatic Illumina 45 31664 12923 44637 42877 1 42949 WT diagnosis snv SCN10A nonsense R302* NM_006514 50-CAAAAC SCN10A NONSENSE SNP Somatic PFAM:PF00520:Ion_trans 15 0.798 SQHIGH 17 22 39 0 46 46 COSMIC:mut:79044 Cosmic_Gene G G A G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 6336 3 38802218 38802218 Somatic Illumina 68 24422 10141 34569 35515 12 35528 WT diagnosis snv LIMCH1 missense R374H NM_014988 50-CAAAAC LIMCH1 MISSENSE SNP Somatic 2 0.164 SQHIGH 18 71 89 0 47 47 Cosmic_Gene G G A G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 22998 4 41648162 41648162 Somatic Illumina 36 91018 22256 113279 94567 52 94627 WT diagnosis snv KCTD8 missense R421W NM_198353 50-CAAAAC KCTD8 MISSENSE SNP Somatic 2 0.164 SQHIGH 14 48 62 0 58 58 Cosmic_Gene G G A G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 386617 4 44176968 44176968 Somatic Illumina 44 77156 17633 94804 92994 80 93093 WT diagnosis snv RASSF6 missense T335A NM_177532 50-CAAAAC RASSF6 MISSENSE SNP Somatic 3 0.186 SQHIGH 16 46 62 0 36 36 Cosmic_Gene T T C T T TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 166824 4 74441963 74441963 Somatic Illumina 35 40923 10760 51686 43495 75 43575 WT diagnosis snv ANTXR2 missense A378V NM_058172 50-CAAAAC ANTXR2 MISSENSE SNP Somatic 12 0.589 SQHIGH 15 31 46 0 50 50 Cosmic_Gene G G A G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 118429 4 80905078 80905078 Somatic Illumina 54 51525 24127 75717 63984 20 64045 WT diagnosis snv SLC36A2 missense A314V NM_181776 50-CAAAAC SLC36A2 MISSENSE SNP Somatic PFAM:PF01490:Aa_trans 4 0.215 SQHIGH 14 30 44 0 38 38 Cosmic_Gene G G A G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 153201 5 150704916 150704916 Somatic Illumina 43 34193 13867 48107 41532 27 41584 WT diagnosis snv CCR6 missense P50L NM_004367 50-CAAAAC CCR6 MISSENSE SNP Somatic -4 0.074 SQHIGH 10 58 68 0 44 44 Cosmic_Gene C C T C C TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 1235 6 167549867 167549867 23 WT diagnosis snv ST7-OT4 EXON E1_exon NM_018412 50-CAAAAC ST7|ST7-OT4|ST7-AS1 INTRON|UTR|TSS-UPSTREAM SNP Somatic 6 0.297 SQHIGH 15 57 72 0 47 47 Cosmic_Gene G G T G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 7982|338069|93653 7 116594702 116594702 Somatic Illumina 36 39160 5336 44557 44784 3 44866 WT diagnosis snv SEC16A nonsense R1856* NM_014866 50-CAAAAC SEC16A NONSENSE SNP Somatic 11 0.532 SQHIGH 25 24 49 0 28 28 G G A G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 9919 9 139350603 139350603 Somatic Illumina 63 34008 32090 66103 59197 28 59234 WT diagnosis snv ZC3H18 missense R521Q NM_144604 50-CAAAAC ZC3H18 MISSENSE SNP Somatic 21 1.000 SQHIGH 25 5 30 1 41 42 Cosmic_Gene G G A G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 124245 16 88688691 88688691 Somatic Illumina 127 2715 55319 58037 48330 36 48368 WT diagnosis snv RAB36 missense A221V NM_004914 50-CAAAAC RAB36 MISSENSE SNP Somatic 13 0.646 SQHIGH 33 32 65 0 52 52 Cosmic_Gene C C T C C TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 9609 22 23501102 23501102 Somatic Illumina 106 62481 57555 120109 93532 26 93615 WT diagnosis snv KDM5C nonsense R332* NM_004187 50-CAAAAC KDM5C NONSENSE SNP Somatic -6 0.063 SQHIGH 4 18 22 0 35 35 Cosmic_Gene G G A G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 8242 X 53243999 53243999 17 WT diagnosis snv PGAM4 missense A194V NM_001029891 50-CAAAAC ATP7A|PGAM4 INTRON|MISSENSE SNP Somatic 3 0.186 SQHIGH 9 23 32 2 38 40 G G A G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 538|441531 X 77224555 77224555 21 WT diagnosis snv COL11A1 missense G1282E NM_001854 50-CAAAAH COL11A1 MISSENSE SNP Somatic 15 0.630 SQHIGH 7 20 27 1 38 39 Cosmic_Gene C C T C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 1301 1 103380339 103380339 22 WT diagnosis snv TMEM63A splice R249_E11splice NM_014698 50-CAAAAH TMEM63A SYNONYMOUS SNP Somatic 16 0.698 SQHIGH 22 17 39 0 48 48 Cosmic_Gene C C T C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 9725 1 226050551 226050551 96 WT diagnosis snv SLC22A14 silent I527I NM_004803 50-CAAAAH SLC22A14 SYNONYMOUS SNP Somatic 10 0.345 SQHIGH 16 25 41 0 48 48 C C A C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 9389 3 38357863 38357863 62 WT diagnosis snv TOPAZ1 nonsense R1271* NM_001145030 50-CAAAAH TOPAZ1 NONSENSE SNP Somatic 8 0.281 SQHIGH 5 4 9 0 19 19 Cosmic_Gene C C T C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 375337 3 44345520 44345520 29 WT diagnosis snv AFAP1-AS1 EXON E14_exon NM_001134647 50-CAAAAH AFAP1-AS1|AFAP1 UTR|INTRON SNP Somatic 5 0.205 SQHIGH 25 59 84 0 61 61 C C T C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 84740|60312 4 7780101 7780101 67 WT diagnosis snv AGPAT9 splice W48_E2splice NM_032717 50-CAAAAH AGPAT9 DISRUPT SNP Somatic 19 0.939 SQHIGH 20 3 23 1 51 52 Cosmic_Gene A A T A A TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 84803 4 84465687 84465687 134 WT diagnosis snv HCN1 missense V566M NM_021072 50-CAAAAH HCN1 MISSENSE SNP Somatic 17 0.814 SQHIGH 10 15 25 0 30 30 Cosmic_Gene C C T C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 348980 5 45267278 45267278 40 WT diagnosis snv DDX39B missense I301L NM_004640 50-CAAAAH DDX39B|ATP6V1G2-DDX39B MISSENSE,UTR|UTR SNP Somatic 14 0.547 SQHIGH 9 5 14 0 40 40 Cosmic_Gene T T G T T TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 7919|100532737 6 31499149 31499149 64 WT diagnosis snv EPPK1 missense G128A NM_031308 50-CAAAAH EPPK1 MISSENSE SNP Somatic 14 0.547 SQHIGH 17 16 33 0 33 33 Cosmic_Gene C C G C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 83481 8 144947039 144947039 63 WT diagnosis snv P2RX7 missense R53W NM_002562 50-CAAAAH P2RX7 INTRON,MISSENSE,UTR SNP dbsnp.134:rs139154098 Somatic PFAM:PF00864:P2X_receptor 4 0.186 SQHIGH 23 25 48 0 56 56 Cosmic_Gene C C T C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 5027 12 121592619 121592619 93 WT diagnosis snv NBEA missense C2737W NM_015678 50-CAAAAH NBEA MISSENSE SNP Somatic PFAM:PF00400:WD40 6 0.228 SQHIGH 4 15 19 1 65 66 Cosmic_Gene C C G C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 26960 13 36229798 36229798 21 WT diagnosis snv E2F4 splice_region V270_E6splice_region NM_001950 50-CAAAAH ELMO3|E2F4|EXOC3L1 TSS-UPSTREAM|DONOR|TSS-UPSTREAM SNP Somatic 7 0.256 SQHIGH 19 1 20 0 37 37 Cosmic_Gene A C C A A TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 79767|1874|283849 16 67228887 67228887 135 WT diagnosis snv PSMD7 missense G171E NM_002811 50-CAAAAH PSMD7|LOC100506201 MISSENSE|INTRON SNP Somatic -1 0.120 SQHIGH 4 23 27 1 50 51 G G A G G TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 5713|100506201 16 74338274 74338274 13 WT diagnosis snv TP53 missense R342P NM_000546 50-CAAAAH TP53 UTR3,MISSENSE SNP Somatic PFAM:PF07710:P53_tetramer 14 0.547 SQHIGH 26 4 30 0 23 23 Cosmic_Gene C C G C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 7157 17 7574002 7574002 106 WT diagnosis snv GIT1 missense G734C NM_001085454 50-CAAAAH GIT1 MISSENSE SNP Somatic PFAM:PF12205:GIT1_C -9 0.066 SQHIGH 4 12 16 1 41 42 C C A C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 28964 17 27901833 27901833 18 WT diagnosis snv PPM1E missense L121P NM_014906 50-CAAAAH PPM1E MISSENSE SNP Somatic -10 0.060 SQHIGH 5 17 22 0 37 37 Cosmic_Gene T T C T T TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 22843 17 56833720 56833720 23 WT diagnosis snv NFKBID missense V22I NM_139239 50-CAAAAH NFKBID MISSENSE SNP Somatic -8 0.069 SQHIGH 3 18 21 0 38 38 C C T C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 84807 19 36387903 36387903 14 WT diagnosis snv SMG9 missense P347T NM_019108 50-CAAAAH SMG9 MISSENSE SNP Somatic -6 0.081 SQHIGH 5 35 40 0 32 32 Cosmic_Gene G G T G G TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 56006 19 44238604 44238604 13 WT diagnosis snv ZNF816 missense R3H NM_001031665 50-CAAAAH ZNF816|ZNF816-ZNF321P MISSENSE|MISSENSE SNP Somatic -2 0.109 SQHIGH 5 22 27 0 39 39 C C T C C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 125893|100529240 19 53459335 53459335 20 WT diagnosis snv LENG1 silent G175G NM_024316 50-CAAAAH LENG1 SYNONYMOUS SNP Somatic -6 0.081 SQHIGH 7 38 45 0 31 31 Cosmic_Gene G G T G G TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 79165 19 54660551 54660551 17 WT diagnosis snv MBOAT7 missense P286L NM_024298 50-CAAAAH MBOAT7 MISSENSE SNP Somatic PFAM:PF03062:MBOAT 13 0.473 SQHIGH 20 25 45 1 51 52 G G A G G TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 79143 19 54682656 54682656 68 WT diagnosis snv FCRL5 splice_region V747_E11splice_region NM_031281 50-CAAAAL FCRL5 ACCEPTOR SNP Somatic 13 0.465 SQHIGH 17 23 40 1 33 34 Cosmic_Gene A A G A A TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 83416 1 157491090 157491090 44 WT diagnosis snv LANCL1 missense L51R NM_006055 50-CAAAAL LANCL1 MISSENSE SNP Somatic -9 0.053 SQHIGH 4 20 24 0 35 35 A A C A A TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 10314 2 211336730 211336730 16 WT diagnosis snv LRRC58 silent E351E NM_001099678 50-CAAAAL LRRC58 SYNONYMOUS SNP Somatic -1 0.100 SQHIGH 5 35 40 0 47 47 T T C T T TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 116064 3 120050110 120050110 17 WT diagnosis snv DROSHA missense E1147K NM_013235 50-CAAAAL DROSHA MISSENSE SNP Somatic 15 0.647 SQHIGH 11 24 35 0 35 35 Cosmic_Gene C C T C C TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 29102 5 31421465 31421465 37 WT diagnosis snv RABGEF1 nonsense Q388* NM_014504 50-CAAAAL RABGEF1 NONSENSE SNP Somatic 2 0.131 SQHIGH 9 14 23 0 51 51 Cosmic_Gene C C T C C TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 27342 7 66273957 66273957 51 WT diagnosis snv MUC12 missense D5271G NM_001164462 50-CAAAAL MUC17|MUC12 TSS-UPSTREAM|MISSENSE SNP Somatic -7 0.062 SQHIGH 7 35 42 1 62 63 Cosmic_Gene A A G A A TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 140453|10071 7 100658907 100658907 22 WT diagnosis snv KEL missense F324S NM_000420 50-CAAAAL KEL MISSENSE SNP Somatic -10 0.050 SQHIGH 5 25 30 1 52 53 Cosmic_Gene A A G A A TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 3792 7 142650997 142650997 17 WT diagnosis snv CUL1 missense E485K NM_003592 50-CAAAAL CUL1 MISSENSE SNP Somatic PFAM:PF00888:Cullin 13 0.465 SQHIGH 28 6 34 0 48 48 Cosmic_Gene G G A G G TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 8454 7 148484186 148484186 157 WT diagnosis snv MPPED2 missense N100Y NM_001584 50-CAAAAL MPPED2 MISSENSE SNP Somatic PFAM:PF00149:Metallophos 14 0.542 SQHIGH 25 25 50 0 54 54 Cosmic_Gene T T A T T TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 744 11 30557553 30557553 98 WT diagnosis snv PLEKHG7 missense I343T NM_001004330 50-CAAAAL PLEKHG7 MISSENSE SNP Somatic -8 0.057 SQHIGH 10 38 48 1 52 53 Cosmic_Gene T T C T T TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 440107 12 93162852 93162852 26 WT diagnosis snv SIX1 missense Q177R NM_005982 50-CAAAAL SIX1 MISSENSE SNP Somatic 11 0.352 SQHIGH 16 14 30 1 33 34 T T C T T TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 6495 14 61115378 61115378 54 WT diagnosis snv MAPT missense I307T NM_016835 50-CAAAAL MAPT INTRON,MISSENSE SNP Somatic -8 0.057 SQHIGH 6 29 35 0 34 34 Cosmic_Gene T T C T T TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 4137 17 44061090 44061090 19 WT diagnosis snv NRIP1 missense S487P NM_003489 50-CAAAAL NRIP1 MISSENSE SNP Somatic -9 0.053 SQHIGH 8 48 56 2 74 76 A A G A A TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 8204 21 16339055 16339055 18 WT diagnosis snv LGALS1 splice_region C3_E1splice_region NM_002305 50-CAAAAL LGALS1 DONOR SNP Somatic -9 0.053 SQHIGH 5 26 31 0 33 35 A A G A A TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 3956 22 38071722 38071722 17 WT diagnosis snv KLHL4 missense V244D NM_019117 50-CAAAAL KLHL4 MISSENSE SNP Somatic PFAM:PF00651:BTB 14 0.542 SQHIGH 18 15 33 0 30 30 Cosmic_Gene T T A T T TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 56062 X 86872938 86872938 64 WT diagnosis snv FAM50A missense R180Q NM_004699 50-CAAAAL FAM50A MISSENSE SNP Somatic PFAM:PF04921:XAP5 1 0.120 SQHIGH 7 21 28 0 40 40 Cosmic_Gene G G A G G TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 9130 X 153677057 153677057 29 WT diagnosis snv DIEXF silent L690L NM_014388 50-CAAAAO DIEXF SYNONYMOUS SNP Somatic PFAM:PF06862:DUF1253 -35 0.003 4 33 37 0 43 43 Cosmic_Gene G G C G G TARGET-50-CAAAAO-01A-01D TARGET-50-CAAAAO-11A-01D 27042 1 210024591 210024591 14 WT diagnosis snv SIX2 missense Q177R NM_016932 50-CAAAAO SIX2 MISSENSE SNP Somatic 12 0.387 SQHIGH 9 11 20 0 26 26 Cosmic_Gene T T C T T TARGET-50-CAAAAO-01A-01D TARGET-50-CAAAAO-11A-01D 10736 2 45235720 45235720 38 WT diagnosis snv TNK2 silent S74S NM_005781 50-CAAAAO TNK2 SYNONYMOUS SNP Somatic 9 0.271 SQHIGH 25 32 57 0 78 78 Cosmic_Gene C C G C C TARGET-50-CAAAAO-01A-01D TARGET-50-CAAAAO-11A-01D 10188 3 195613860 195613860 110 WT diagnosis snv DROSHA missense E1147K NM_013235 50-CAAAAO DROSHA MISSENSE SNP Somatic 16 0.675 SQHIGH 13 10 23 0 33 33 Cosmic_Gene C C T C C TARGET-50-CAAAAO-01A-01D TARGET-50-CAAAAO-11A-01D 29102 5 31421465 31421465 62 WT diagnosis snv PRUNE2 missense D3070N NM_015225 50-CAAAAO PRUNE2 MISSENSE SNP Somatic 6 0.197 SQHIGH 14 38 52 0 60 60 C C T C C TARGET-50-CAAAAO-01A-01D TARGET-50-CAAAAO-11A-01D 158471 9 79234284 79234284 51 WT diagnosis snv RAG1 missense L1035M NM_000448 50-CAAAAO RAG1 MISSENSE SNP Somatic 13 0.442 SQHIGH 16 32 48 0 63 63 Cosmic_Gene C C A C C TARGET-50-CAAAAO-01A-01D TARGET-50-CAAAAO-11A-01D 5896 11 36597957 36597957 66 WT diagnosis snv CIC missense R215Q NM_015125 50-CAAAAO CIC MISSENSE SNP Somatic -27 0.010 3 24 27 0 52 52 Cosmic_Gene G G A G G TARGET-50-CAAAAO-01A-01D TARGET-50-CAAAAO-11A-01D 23152 19 42791758 42791758 14 WT diagnosis snv ALAS2 missense S109L NM_000032 50-CAAAAO ALAS2 INTRON,MISSENSE SNP Somatic 7 0.219 SQHIGH 21 31 52 0 47 47 Cosmic_Gene G G A G G TARGET-50-CAAAAO-01A-01D TARGET-50-CAAAAO-11A-01D 212 X 55050279 55050279 69 WT diagnosis snv MYCN missense P44L NM_005378 50-CAAAAQ MYCNOS|MYCN TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01056:Myc_N 5 0.192 SQHIGH 42 16 58 0 36 36 COSMIC:mut:35624 Cosmic_Gene C C T C C TARGET-50-CAAAAQ-01A-01D TARGET-50-CAAAAQ-11A-01D 10408|4613 2 16082317 16082317 131 WT diagnosis snv COL15A1 missense L16M NM_001855 50-CAAAAQ COL15A1 MISSENSE SNP Somatic -9 0.057 SQHIGH 4 5 9 0 11 11 Cosmic_Gene C C A C C TARGET-50-CAAAAQ-01A-01D TARGET-50-CAAAAQ-11A-01D 1306 9 101706478 101706478 16 WT diagnosis snv EXPH5 missense K1039I NM_015065 50-CAAAAQ EXPH5 MISSENSE SNP Somatic 15 0.620 SQHIGH 48 2 50 0 60 60 Cosmic_Gene T A A T T TARGET-50-CAAAAQ-01A-01D TARGET-50-CAAAAQ-11A-01D 23086 11 108383118 108383118 285 WT diagnosis snv SLC25A29 silent T198T NM_001039355 50-CAAAAQ SLC25A29 SYNONYMOUS SNP Somatic PFAM:PF00153:Mito_carr 18 0.864 SQHIGH 16 10 26 0 31 31 Cosmic_Gene C C T C C TARGET-50-CAAAAQ-01A-01D TARGET-50-CAAAAQ-11A-01D 123096 14 100758938 100758938 70 WT diagnosis snv NOTCH3 missense P2077S NM_000435 50-CAAAAQ NOTCH3 MISSENSE SNP Somatic -7 0.066 SQHIGH 5 12 17 0 20 20 Cosmic_Gene G G A G G TARGET-50-CAAAAQ-01A-01D TARGET-50-CAAAAQ-11A-01D 4854 19 15272210 15272210 18 WT diagnosis snv SLC25A5 missense T254M NM_001152 50-CAAAAQ SLC25A5|LOC100303728 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00153:Mito_carr 4 0.174 SQHIGH 4 14 18 0 25 25 Cosmic_Gene C C T C C TARGET-50-CAAAAQ-01A-01D TARGET-50-CAAAAQ-11A-01D 292|100303728 X 118604885 118604885 16 WT diagnosis snv BRDT missense E370K NM_207189 50-CAAAAS BRDT MISSENSE SNP Somatic -6 0.079 SQHIGH 14 13 27 0 26 26 Cosmic_Gene G G A G G TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 676 1 92445135 92445135 51 WT diagnosis snv CPS1-IT1 EXON E22_exon NM_001122633 50-CAAAAS CPS1|CPS1-IT1 INTRON|UTR SNP Somatic -9 0.063 SQHIGH 5 11 16 0 19 19 Cosmic_Gene A A G A A TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 1373|29034 2 211484120 211484120 19 WT diagnosis snv EPHB1 missense I923T NM_004441 50-CAAAAS EPHB1 MISSENSE SNP Somatic -10 0.059 SQHIGH 6 21 27 0 34 34 Cosmic_Gene T T C T T TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 2047 3 134968255 134968255 23 WT diagnosis snv NWD2 missense Q597R NM_001144990 50-CAAAAS NWD2 MISSENSE SNP Somatic -9 0.063 SQHIGH 3 16 19 0 36 36 A A G A A TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 57495 4 37445400 37445400 14 WT diagnosis snv PCDHGB1 missense C728Y NM_018922 50-CAAAAS PCDHGA3|PCDHGA4|PCDHGB1|PCDHGA2|PCDHGA1 INTRON|TSS-UPSTREAM|MISSENSE|INTRON|INTRON SNP Somatic 3 0.170 SQHIGH 10 12 22 1 30 31 Cosmic_Gene G G A G G TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 56112|56111|56104|56113|56114 5 140732010 140732010 36 WT diagnosis snv LMBRD1 silent G146G NM_018368 50-CAAAAS LMBRD1 SYNONYMOUS SNP Somatic PFAM:PF04791:LMBR1 -4 0.091 SQHIGH 8 23 31 1 33 34 Cosmic_Gene T T C T T TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 55788 6 70459268 70459268 20 WT diagnosis snv ST18 missense I819M NM_014682 50-CAAAAS ST18 MISSENSE SNP Somatic PFAM:PF01530:zf-C2HC -10 0.059 SQHIGH 7 34 41 2 61 63 Cosmic_Gene T T C T T TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 9705 8 53044727 53044727 17 WT diagnosis snv JAKMIP3 missense R531Q NM_001105521 50-CAAAAS JAKMIP3 MISSENSE SNP Somatic -9 0.063 SQHIGH 3 25 28 0 58 58 Cosmic_Gene G G A G G TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 282973 10 133955542 133955542 15 WT diagnosis snv FAM65A silent T545T NM_024519 50-CAAAAS FAM65A SYNONYMOUS SNP Somatic -10 0.059 SQHIGH 5 22 27 2 63 65 Cosmic_Gene T T C T T TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 79567 16 67576324 67576324 17 WT diagnosis snv COL4A5 missense G135D NM_000495 50-CAAAAS COL4A5 MISSENSE SNP Somatic -10 0.059 SQHIGH 3 12 15 0 30 30 Cosmic_Gene G G A G G TARGET-50-CAAAAS-01A-01D TARGET-50-CAAAAS-10A-01D 1287 X 107814662 107814662 15 WT diagnosis snv SCN1A missense R604H NM_001165963 50-PAEBXA SCN1A MISSENSE SNP dbsnp.133:rs121918769 Somatic PFAM:PF11933:DUF3451 5 0.190 SQHIGH 31 44 75 0 75 75 Cosmic_Gene C C T C C TARGET-50-PAEBXA-01A-01D TARGET-50-PAEBXA-10A-01D 6323 2 166900411 166900411 Somatic Illumina 110 17184 8340 25554 27377 14 27411 WT diagnosis snv TARS missense E706K NM_152295 50-PAEBXA TARS MISSENSE SNP Somatic 10 0.377 SQHIGH 11 16 27 1 43 44 Cosmic_Gene G G A G G TARGET-50-PAEBXA-01A-01D TARGET-50-PAEBXA-10A-01D 6897 5 33467757 33467757 Somatic Illumina 43 98933 46839 145796 155589 42 155648 WT diagnosis snv AQPEP missense K754N NM_173800 50-PAEBXA AQPEP MISSENSE SNP Somatic -10 0.034 SQHIGH 5 12 17 0 36 36 G G C G G TARGET-50-PAEBXA-01A-01D TARGET-50-PAEBXA-10A-01D 206338 5 115348085 115348085 27 WT diagnosis snv GPR21 missense A244T NM_005294 50-PAEBXA GPR21|RABGAP1 MISSENSE|INTRON SNP Somatic PFAM:PF00001:7tm_1 -6 0.049 SQHIGH 4 39 43 0 62 62 Cosmic_Gene G G A G G TARGET-50-PAEBXA-01A-01D TARGET-50-PAEBXA-10A-01D 2844|23637 9 125797575 125797575 16 WT diagnosis snv KMT2D silent Q3924Q NM_003482 50-PAEBXA KMT2D SYNONYMOUS SNP Somatic -3 0.065 SQHIGH 7 29 36 1 45 46 Cosmic_Gene C C T C C TARGET-50-PAEBXA-01A-01D TARGET-50-PAEBXA-10A-01D 8085 12 49426716 49426716 19 WT diagnosis snv VWA3A missense R594W NM_173615 50-PAEBXA VWA3A MISSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 8 0.291 SQHIGH 11 34 45 1 54 55 Cosmic_Gene C C T C C TARGET-50-PAEBXA-01A-01D TARGET-50-PAEBXA-10A-01D 146177 16 22142958 22142958 33 WT diagnosis snv USP11 missense A160T NM_004651 50-PAEBXA USP11 MISSENSE SNP Somatic PFAM:PF06337:DUSP -33 0.002 4 28 32 0 39 39 Cosmic_Gene G G A G G TARGET-50-PAEBXA-01A-01D TARGET-50-PAEBXA-10A-01D 8237 X 47098812 47098812 14 WT diagnosis mnv DNM2 missense G397L NM_001005360 50-PAEBXA DNM2 MISSENSE Sub Somatic PFAM:PF01031:Dynamin_M -2 0.459 SQHIGH 21 63 84 0 121 121 Cosmic_Gene GG GG TT GG GG TARGET-50-PAEBXA-01A-01D TARGET-50-PAEBXA-10A-01D 1785 19 10906108 10906109 Somatic Illumina 89 24819 12409 37323 41419 0 41513 WT diagnosis snv GBP3 silent A119A NM_018284 50-PAECJB GBP3 SYNONYMOUS SNP Somatic 16 0.691 SQHIGH 21 24 45 1 37 38 Cosmic_Gene G G A G G TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 2635 1 89480301 89480301 57 WT diagnosis snv SPTA1 missense L76V NM_003126 50-PAECJB SPTA1 MISSENSE SNP Somatic 19 0.945 SQHIGH 21 11 32 0 36 36 Cosmic_Gene A A C A A TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 6708 1 158654936 158654936 92 WT diagnosis snv BECN1P1 silent S319S NM_001290693 50-PAECJB SNP Somatic -8 0.057 SQHIGH 6 47 53 0 42 42 G G A G G TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 1 242122025 242122025 16 WT diagnosis snv CTNNB1 missense S45F NM_001904 50-PAECJB CTNNB1 MISSENSE SNP dbsnp.133:rs121913409 Somatic 11 0.349 SQHIGH 14 16 30 0 28 28 COSMIC:mut:5667 Cosmic_Gene C C T C C TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 1499 3 41266137 41266137 48 WT diagnosis snv C7 splice_region A784_E18splice_region NM_000587 50-PAECJB C7 ACCEPTOR SNP Somatic -10 0.050 SQHIGH 6 44 50 0 48 48 C C T C C TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 730 5 40981485 40981485 18 WT diagnosis snv JMY silent A554A NM_152405 50-PAECJB JMY SYNONYMOUS SNP Somatic 15 0.614 SQHIGH 14 13 27 0 25 25 G G A G G TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 133746 5 78596110 78596110 49 WT diagnosis snv TBCEL missense T142M NM_152715 50-PAECJB TBCEL MISSENSE SNP Somatic 13 0.450 SQHIGH 23 20 43 0 35 35 Cosmic_Gene C C T C C TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 219899 11 120924411 120924411 76 WT diagnosis snv FBLN5 silent T304T NM_006329 50-PAECJB FBLN5 SYNONYMOUS SNP Somatic 3 0.147 SQHIGH 7 22 29 0 30 30 Cosmic_Gene C C A C C TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 10516 14 92347713 92347713 23 WT diagnosis snv ALDH1A2 splice W186_E6splice NM_003888 50-PAECJB ALDH1A2 ACCEPTOR SNP Somatic 15 0.614 SQHIGH 8 20 28 1 29 30 Cosmic_Gene G G C G G TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 8854 15 58285274 58285274 20 WT diagnosis snv MTCL1 silent P1357P NM_015210 50-PAECJB MTCL1 SYNONYMOUS SNP Somatic 9 0.277 SQHIGH 7 14 21 0 30 30 Cosmic_Gene C C T C C TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 23255 18 8825579 8825579 30 WT diagnosis snv GATAD2A missense R9W NM_017660 50-PAECJB GATAD2A MISSENSE SNP Somatic 11 0.349 SQHIGH 17 25 42 1 52 53 C C T C C TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 54815 19 19576179 19576179 59 WT diagnosis snv EFCAB6 missense L774Q NM_022785 50-PAECJB EFCAB6 MISSENSE SNP Somatic 2 0.134 SQHIGH 7 59 66 0 52 52 Cosmic_Gene A A T A A TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 64800 22 44022471 44022471 18 WT diagnosis snv EFCAB6 missense L773P NM_022785 50-PAECJB EFCAB6 MISSENSE SNP Somatic 2 0.134 SQHIGH 7 58 65 0 61 61 Cosmic_Gene A A G A A TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 64800 22 44022474 44022474 21 WT diagnosis complex MLLT1 proteinDel N111_P113>K NM_005934 50-PAECJB MLLT1 DELETE+ Sub Somatic PFAM:PF03366:YEATS -7 0.303 SQHIGH 34 31 65 0 60 60 Cosmic_Gene CGGGCGGG CGGGCGGG CT CGGGCGGG CGGGCGGG TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 4298 19 6230661 6230668 121 WT diagnosis snv SLC25A44 missense S107R NM_014655 50-PAJLKR SLC25A44 MISSENSE SNP Somatic PFAM:PF00153:Mito_carr 9 0.316 SQHIGH 52 62 114 0 48 48 Cosmic_Gene T T A T T TARGET-50-PAJLKR-01A-01D TARGET-50-PAJLKR-11A-01D 9673 1 156169959 156169959 100 WT diagnosis snv SLC25A44 silent R148R NM_014655 50-PAJLKR SLC25A44 SYNONYMOUS SNP Somatic PFAM:PF00153:Mito_carr 10 0.351 SQHIGH 81 62 143 0 65 65 Cosmic_Gene C C T C C TARGET-50-PAJLKR-01A-01D TARGET-50-PAJLKR-11A-01D 9673 1 156170082 156170082 178 WT diagnosis snv TFEB missense R465L NM_007162 50-PAJLKR TFEB MISSENSE SNP Somatic 1 0.141 SQHIGH 7 11 18 0 12 12 Cosmic_Gene C C A C C TARGET-50-PAJLKR-01A-01D TARGET-50-PAJLKR-11A-01D 7942 6 41652374 41652374 18 WT diagnosis snv CYP2C18 silent L314L NM_000772 50-PAJLKR CYP2C18 SYNONYMOUS SNP Somatic PFAM:PF00067:p450 -9 0.064 SQHIGH 4 16 20 0 21 21 Cosmic_Gene G G C G G TARGET-50-PAJLKR-01A-01D TARGET-50-PAJLKR-11A-01D 1562 10 96480275 96480275 13 WT diagnosis snv HIPK3 silent S958S NM_005734 50-PAJLKR HIPK3 SYNONYMOUS SNP Somatic -8 0.069 SQHIGH 16 3 19 0 14 14 Cosmic_Gene C C T C C TARGET-50-PAJLKR-01A-01D TARGET-50-PAJLKR-11A-01D 10114 11 33373220 33373220 61 WT diagnosis snv SLC12A4 silent T167T NM_005072 50-PAJLKR SLC12A4 SYNONYMOUS SNP Somatic 1 0.141 SQHIGH 6 23 29 0 32 32 Cosmic_Gene C C G C C TARGET-50-PAJLKR-01A-01D TARGET-50-PAJLKR-11A-01D 6560 16 67991688 67991688 21 WT diagnosis snv ZSCAN5A silent L192L NM_024303 50-PAJLKR ZSCAN5A SYNONYMOUS SNP dbsnp.134:rs143076677 Somatic PFAM:PF02386:TrkH -9 0.064 SQHIGH 8 32 40 0 44 44 Cosmic_Gene A A G A A TARGET-50-PAJLKR-01A-01D TARGET-50-PAJLKR-11A-01D 79149 19 56735014 56735014 28 WT diagnosis snv PIGT splice_region S412_E9splice_region NM_015937 50-PAJLKR PIGT INTRON SNP Somatic 10 0.351 SQHIGH 16 31 47 0 50 50 Cosmic_Gene C C T C C TARGET-50-PAJLKR-01A-01D TARGET-50-PAJLKR-11A-01D 51604 20 44050231 44050231 57 WT diagnosis snv OTUD3 missense Q349E NM_015207 50-PAJLLF OTUD3 MISSENSE SNP Somatic -10 0.057 SQHIGH 7 29 36 0 32 32 C C G C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 23252 1 20234087 20234087 21 WT diagnosis snv GLIS1 missense R354L NM_147193 50-PAJLLF GLIS1 MISSENSE SNP Somatic 14 0.549 SQHIGH 16 17 33 0 35 35 Cosmic_Gene C C A C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 148979 1 53990457 53990457 61 WT diagnosis snv LRRN2 missense P407L NM_006338 50-PAJLLF LRRN2 MISSENSE SNP Somatic 9 0.307 SQHIGH 8 17 25 0 18 18 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 10446 1 204587901 204587901 21 WT diagnosis snv KLHL29 missense V439M NM_052920 50-PAJLLF KLHL29 MISSENSE SNP Somatic PFAM:PF07707:BACK 16 0.698 SQHIGH 12 13 25 0 41 41 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 114818 2 23916171 23916171 60 WT diagnosis snv C2orf81 missense L83R NM_001145054 50-PAJLLF C2orf81 MISSENSE SNP Somatic 2 0.148 SQHIGH 5 31 36 0 42 42 A A C A A TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 388963 2 74643148 74643148 17 WT diagnosis snv ARHGAP15 nonsense K121* NM_018460 50-PAJLLF ARHGAP15 NONSENSE SNP Somatic -4 0.088 SQHIGH 5 23 28 0 23 23 Cosmic_Gene A A T A A TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 55843 2 143986214 143986214 14 WT diagnosis snv TTN missense D29372H NM_133378 50-PAJLLF TTN|LOC100506866 MISSENSE|INTRON SNP Somatic 13 0.475 SQHIGH 14 21 35 0 30 30 Cosmic_Gene C C G C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 7273|100506866 2 179409138 179409138 44 WT diagnosis snv MAML3 missense G1053V NM_018717 50-PAJLLF MGST2|MAML3 INTRON|MISSENSE SNP Somatic PFAM:PF09606:Med15 16 0.698 SQHIGH 11 11 22 0 61 61 Cosmic_Gene C C A C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 4258|55534 4 140640724 140640724 74 WT diagnosis snv GPR98 missense R1662H NM_032119 50-PAJLLF GPR98 MISSENSE,UTR SNP Somatic PFAM:PF03160:Calx-beta 17 0.808 SQHIGH 15 18 33 0 25 25 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 84059 5 89969926 89969926 45 WT diagnosis snv GPR151 missense N79I NM_194251 50-PAJLLF GPR151 MISSENSE SNP Somatic 1 0.135 SQHIGH 5 23 28 0 29 29 Cosmic_Gene T T A T T TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 134391 5 145895441 145895441 16 WT diagnosis snv BTN2A1 missense R287Q NM_007049 50-PAJLLF BTN2A1 MISSENSE SNP Somatic 12 0.423 SQHIGH 14 31 45 0 37 37 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 11120 6 26465560 26465560 41 WT diagnosis snv HLA-DOA silent L201L NM_002119 50-PAJLLF HLA-DOA SYNONYMOUS SNP Somatic 17 0.808 SQHIGH 16 10 26 0 39 39 G G T G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 3111 6 32975098 32975098 81 WT diagnosis snv CLDN4 silent L174L NM_001305 50-PAJLLF CLDN4 SYNONYMOUS SNP Somatic 0 0.124 SQHIGH 5 6 11 0 16 16 G G C G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 1364 7 73246053 73246053 22 WT diagnosis snv LOC100630923 EXON E6_exon NM_024653 50-PAJLLF PRKRIP1|LOC100630923 UTR3|UTR SNP Somatic 18 0.866 SQHIGH 15 14 29 0 44 44 Cosmic_Gene C C G C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 79706|100630923 7 102066229 102066229 73 WT diagnosis snv GIMAP6 missense V75M NM_024711 50-PAJLLF GIMAP6 INTRON,MISSENSE SNP Somatic 11 0.378 SQHIGH 18 12 30 0 26 26 Cosmic_Gene C C T C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 474344 7 150325463 150325463 64 WT diagnosis snv C8orf46 missense G181S NM_152765 50-PAJLLF C8orf46 MISSENSE SNP Somatic 11 0.378 SQHIGH 12 34 46 0 40 40 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 254778 8 67428228 67428228 36 WT diagnosis snv LURAP1L silent S70S NM_203403 50-PAJLLF LOC100506267|C9orf150 INTRON|SYNONYMOUS SNP Somatic 0 0.124 SQHIGH 6 28 34 0 29 29 G G C G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 100506267|286343 9 12775924 12775924 17 WT diagnosis snv MPDZ splice_region V1915_E44splice_region NM_003829 50-PAJLLF MPDZ ACCEPTOR SNP Somatic 17 0.808 SQHIGH 18 19 37 0 31 31 Cosmic_Gene A A C A A TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 8777 9 13110070 13110070 59 WT diagnosis snv RAB14 missense P197L NM_016322 50-PAJLLF RAB14 MISSENSE SNP Somatic 16 0.698 SQHIGH 20 19 39 0 30 30 G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 51552 9 123943732 123943732 62 WT diagnosis snv KCNQ1OT1 EXON E11_exon NM_000218 50-PAJLLF KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 6 0.222 SQHIGH 14 43 57 0 74 74 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 3784|10984 11 2686866 2686866 55 WT diagnosis snv KCNQ1OT1 EXON E11_exon NM_000218 50-PAJLLF KCNQ1|KCNQ1OT1 INTRON|UTR SNP Somatic 15 0.628 SQHIGH 9 28 37 2 43 45 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 3784|10984 11 2705092 2705092 20 WT diagnosis snv SLC22A18 missense G337S NM_002555 50-PAJLLF SLC22A18 MISSENSE SNP Somatic PFAM:PF07690:MFS_1 0 0.124 SQHIGH 7 12 19 0 25 25 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 5002 11 2943708 2943708 29 WT diagnosis snv KIAA1549L missense A1316T NM_012194 50-PAJLLF KIAA1549L MISSENSE SNP Somatic PFAM:PF12877:DUF3827 -3 0.095 SQHIGH 5 28 33 0 27 27 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 25758 11 33620451 33620451 14 WT diagnosis snv FARP1 missense R841L NM_005766 50-PAJLLF FARP1 MISSENSE SNP Somatic 7 0.254 SQHIGH 18 34 52 0 66 66 Cosmic_Gene G G T G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 10160 13 99092382 99092382 73 WT diagnosis snv AHNAK2 missense E1941G NM_138420 50-PAJLLF AHNAK2 MISSENSE SNP Somatic -10 0.057 SQHIGH 3 23 26 0 43 43 Cosmic_Gene T T C T T TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 113146 14 105415966 105415966 13 WT diagnosis snv ATP10A silent L315L NM_024490 50-PAJLLF ATP10A SYNONYMOUS SNP Somatic PFAM:PF00122:E1-E2_ATPase -4 0.088 SQHIGH 4 15 19 0 34 34 Cosmic_Gene G G A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 57194 15 25971134 25971134 19 WT diagnosis snv MAPKBP1 silent P1440P NM_014994 50-PAJLLF JMJD7-PLA2G4B|JMJD7|MAPKBP1 TSS-UPSTREAM|TSS-UPSTREAM|SYNONYMOUS SNP Somatic 3 0.163 SQHIGH 4 15 19 0 45 45 Cosmic_Gene C C G C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 8681|100137047|23005 15 42117427 42117427 22 WT diagnosis snv TP53 missense R337C NM_000546 50-PAJLLF TP53 UTR3,MISSENSE SNP Somatic PFAM:PF07710:P53_tetramer 13 0.475 SQHIGH 10 0 10 0 37 38 COSMIC:mut:11071 Cosmic_Gene G A A G G TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 7157 17 7574018 7574018 97 WT diagnosis snv ST8SIA5 missense S362N NM_013305 50-PAJLLF ST8SIA5 MISSENSE SNP Somatic PFAM:PF00777:Glyco_transf_29 -8 0.066 SQHIGH 3 7 10 0 36 36 Cosmic_Gene C C T C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 29906 18 44260051 44260051 21 WT diagnosis snv MEIS3 silent L344L NM_020160 50-PAJLLF MEIS3 SYNONYMOUS SNP Somatic 2 0.148 SQHIGH 13 24 37 0 31 31 C C T C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 56917 19 47910650 47910650 39 WT diagnosis snv PTGIS missense R93G NM_000961 50-PAJLLF PTGIS MISSENSE SNP Somatic 3 0.163 SQHIGH 12 39 51 0 45 45 Cosmic_Gene T T C T T TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 5740 20 48164478 48164478 36 WT diagnosis snv GART silent L248L NM_000819 50-PAJLLF GART SYNONYMOUS SNP Somatic PFAM:PF02786:CPSase_L_D2 -2 0.104 SQHIGH 9 15 24 0 27 27 Cosmic_Gene T T C T T TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 2618 21 34901223 34901223 34 WT diagnosis snv ASMTL splice_region G508_E11splice_region NM_004192 50-PAJLLF ASMTL DONOR SNP Somatic 14 0.549 SQHIGH 13 6 19 0 28 28 C C T C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 8623 X 1536861 1536861 67 WT diagnosis snv AFF2 missense Q729K NM_002025 50-PAJLLF AFF2 MISSENSE SNP Somatic PFAM:PF05110:AF-4 13 0.475 SQHIGH 26 27 53 0 54 54 Cosmic_Gene C C A C C TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 2334 X 148037760 148037760 97 WT diagnosis snv SPATA31E1 silent A1078A NM_178828 50-PAJLNJ SPATA31E1 SYNONYMOUS SNP Somatic 14 0.533 SQHIGH 16 18 34 0 75 75 Cosmic_Gene G G A G G TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 286234 9 90502636 90502636 94 WT diagnosis snv RNF208 missense R240W NM_031297 50-PAJLNJ RNF208|C9orf169 MISSENSE|TSS-UPSTREAM SNP Somatic 11 0.354 SQHIGH 16 15 31 0 39 39 G G A G G TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 727800|375791 9 140114947 140114947 69 WT diagnosis snv WT1 nonsense K245* NM_000378 50-PAJLNJ WT1 NONSENSE SNP Somatic PFAM:PF02165:WT1 12 0.401 SQHIGH 43 3 46 0 80 80 Cosmic_Gene T A A T T TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 7490 11 32450079 32450079 298 WT diagnosis snv CHST14 silent I356I NM_130468 50-PAJLNJ CHST14 SYNONYMOUS SNP Somatic PFAM:PF03567:Sulfotransfer_2 -6 0.075 SQHIGH 7 52 59 3 123 126 C C T C C TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 113189 15 40764480 40764480 19 WT diagnosis snv GSE1 missense L784P NM_014615 50-PAJLNJ GSE1 MISSENSE SNP Somatic PFAM:PF12540:DUF3736 -7 0.069 SQHIGH 6 23 29 3 59 62 Cosmic_Gene T T C T T TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 23199 16 85696677 85696677 16 WT diagnosis snv LOC100287036 missense T118M NM_001242885 50-PAJLNJ LOC100287036|ANKRD11 MISSENSE|INTRON SNP Somatic 15 0.610 SQHIGH 29 22 51 0 69 69 Cosmic_Gene C C T C C TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 100287036|29123 16 89390968 89390968 136 WT diagnosis snv DRP2 silent A715A NM_001939 50-PAJLNJ DRP2 SYNONYMOUS SNP Somatic -6 0.075 SQHIGH 6 41 47 0 68 68 Cosmic_Gene C C T C C TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 1821 X 100509878 100509878 24 WT diagnosis snv PTAFR missense F98L NM_001164721 50-PAJLPX PTAFR MISSENSE SNP Somatic PFAM:PF00001:7tm_1 17 0.854 SQHIGH 29 16 45 0 58 58 G G T G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 5724 1 28477239 28477239 137 WT diagnosis snv CNST silent F689F NM_152609 50-PAJLPX CNST SYNONYMOUS SNP Somatic 11 0.431 SQHIGH 26 20 46 0 24 24 C C T C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 163882 1 246829096 246829096 63 WT diagnosis snv SLC41A3 silent S50S NM_001008487 50-PAJLPX SLC41A3 SYNONYMOUS,INTRON SNP dbsnp.134:rs149663130 Somatic 5 0.233 SQHIGH 21 34 55 0 38 41 G G A G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 54946 3 125775246 125775246 56 WT diagnosis snv STK32B missense S248Y NM_018401 50-PAJLPX STK32B MISSENSE SNP Somatic 0 0.131 SQHIGH 4 17 21 0 23 23 Cosmic_Gene C C A C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 55351 4 5458610 5458610 14 WT diagnosis snv PPM1K silent D30D NM_152542 50-PAJLPX PPM1K SYNONYMOUS SNP dbsnp.134:rs141775336 Somatic -15 0.034 7 11 18 0 10 10 G G A G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 152926 4 89199646 89199646 16 WT diagnosis snv FAT4 missense K4274N NM_024582 50-PAJLPX FAT4 MISSENSE SNP Somatic -7 0.069 SQHIGH 7 15 22 0 23 23 Cosmic_Gene G G T G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 79633 4 126408505 126408505 24 WT diagnosis snv MARCH1 missense T134S NM_001166373 50-PAJLPX MARCH1 MISSENSE SNP Somatic -3 0.098 SQHIGH 5 19 24 0 32 32 Cosmic_Gene G G C G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 55016 4 164506923 164506923 20 WT diagnosis snv PALLD splice L655_E10splice NM_001166108 50-PAJLPX PALLD DISRUPT SNP Somatic 15 0.698 SQHIGH 11 17 28 0 48 48 Cosmic_Gene G G C G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 23022 4 169633075 169633075 54 WT diagnosis snv BASP1 missense E86G NM_006317 50-PAJLPX BASP1 MISSENSE SNP Somatic -6 0.074 SQHIGH 6 14 20 0 18 18 A A G A A TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 10409 5 17275582 17275582 19 WT diagnosis snv SNX2 missense P513H NM_003100 50-PAJLPX SNX2 MISSENSE SNP Somatic PFAM:PF03114:BAR PFAM:PF09325:Vps5 16 0.765 SQHIGH 14 21 35 0 24 24 Cosmic_Gene C C A C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 6643 5 122165321 122165321 38 WT diagnosis snv PPP2R2B missense M165I NM_001271899 50-PAJLPX PPP2R2B MISSENSE SNP Somatic PFAM:PF00400:WD40 11 0.431 SQHIGH 19 22 41 0 45 45 Cosmic_Gene C C A C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 5521 5 146030258 146030258 73 WT diagnosis snv DLK2 missense R181Q NM_023932 50-PAJLPX DLK2 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA -8 0.063 SQHIGH 27 29 56 0 50 50 C C T C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 65989 6 43418887 43418887 92 WT diagnosis snv CYP7B1 missense Q76K NM_004820 50-PAJLPX CYP7B1 MISSENSE SNP Somatic 6 0.264 SQHIGH 10 22 32 1 49 50 Cosmic_Gene G G T G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 9420 8 65536993 65536993 36 WT diagnosis snv KCNV1 missense L451P NM_014379 50-PAJLPX KCNV1 MISSENSE SNP Somatic 2 0.162 SQHIGH 11 42 53 1 37 38 Cosmic_Gene A A G A A TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 27012 8 110980468 110980468 20 WT diagnosis snv MYOF missense R156S NM_013451 50-PAJLPX MYOF MISSENSE SNP Somatic -10 0.054 SQHIGH 8 48 56 0 39 39 Cosmic_Gene C C A C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 26509 10 95169462 95169462 19 WT diagnosis snv LRRC27 splice_region S430_E10splice_region NM_030626 50-PAJLPX LRRC27 ACCEPTOR SNP Somatic 13 0.537 SQHIGH 40 36 76 1 58 59 Cosmic_Gene C C A C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 80313 10 134178923 134178923 113 WT diagnosis snv CDC42BPG silent P1439P NM_017525 50-PAJLPX CDC42BPG SYNONYMOUS SNP Somatic -27 0.010 4 22 26 0 33 33 Cosmic_Gene C C T C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 55561 11 64594594 64594594 15 WT diagnosis snv PC splice_region G505_E12splice_region NM_000920 50-PAJLPX LRFN4|PC TSS-UPSTREAM|DONOR SNP Somatic 15 0.698 SQHIGH 21 21 42 0 39 39 Cosmic_Gene G G T G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 78999|5091 11 66620707 66620707 74 WT diagnosis snv MUC19 splice A1661_E42splice NM_173600 50-PAJLPX LOC100652946 DISRUPT SNP Somatic 13 0.537 SQHIGH 12 17 29 0 34 34 G G T G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 100652946 12 40844062 40844062 47 WT diagnosis snv ERBB3 missense Q607H NM_001982 50-PAJLPX ERBB3 MISSENSE SNP Somatic 15 0.698 SQHIGH 43 43 86 0 46 46 Cosmic_Gene G G T G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 2065 12 56488302 56488302 102 WT diagnosis snv CCDC60 silent L502L NM_178499 50-PAJLPX CCDC60 SYNONYMOUS SNP Somatic 5 0.233 SQHIGH 26 33 60 0 52 52 Cosmic_Gene G G T G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 160777 12 119968823 119968823 86 WT diagnosis snv CCDC60 silent I512I NM_178499 50-PAJLPX CCDC60 SYNONYMOUS SNP Somatic -7 0.069 SQHIGH 15 48 63 0 38 38 Cosmic_Gene C C T C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 160777 12 119968853 119968853 34 WT diagnosis snv SLITRK6 nonsense E515* NM_032229 50-PAJLPX SLITRK6 NONSENSE SNP Somatic 5 0.233 SQHIGH 18 47 65 0 76 76 Cosmic_Gene C C A C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 84189 13 86369101 86369101 67 WT diagnosis snv UBAC2 missense M272I NM_001144072 50-PAJLPX UBAC2 MISSENSE,UTR SNP Somatic 6 0.264 SQHIGH 15 47 62 0 47 47 Cosmic_Gene G G C G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 337867 13 100020049 100020049 40 WT diagnosis snv TP53 splice T125T NM_000546 50-PAJLPX TP53 SYNONYMOUS,TSS-UPSTREAM SNP Somatic -18 0.026 9 3 12 0 24 24 COSMIC:mut:39404 Cosmic_Gene C C T C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 7157 17 7579312 7579312 56 WT diagnosis snv FBF1 splice_region Q820_E22splice_region NM_001080542 50-PAJLPX FBF1 INTRON SNP Somatic 1 0.145 SQHIGH 7 25 32 0 31 31 G G A G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 85302 17 73913804 73913804 22 WT diagnosis snv TNPO2 missense Q878E NM_001136196 50-PAJLPX TNPO2|FBXW9 MISSENSE|TSS-UPSTREAM SNP Somatic -6 0.074 SQHIGH 4 18 22 0 33 33 Cosmic_Gene G G C G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 30000|84261 19 12812222 12812222 17 WT diagnosis snv DPY19L3 missense R649Q NM_207325 50-PAJLPX DPY19L3 MISSENSE SNP Somatic PFAM:PF10034:Dpy19 -2 0.107 SQHIGH 5 9 14 0 34 34 Cosmic_Gene G G A G G TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 147991 19 32971420 32971420 29 WT diagnosis snv LOC101928295 EXON E4_exon NM_014419 50-PAJLPX DKKL1 INTRON SNP Somatic -10 0.054 SQHIGH 5 21 26 0 40 40 C C A C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 27120 19 49872306 49872306 21 WT diagnosis snv A1BG-AS1 EXON E1_exon NM_130786 50-PAJLPX A1BG|A1BG-AS1 UTR5|UTR SNP Somatic 14 0.612 SQHIGH 12 14 26 0 29 29 C C T C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 1|503538 19 58864821 58864821 47 WT diagnosis snv SNORA56 EXON E12_exon NM_001363 50-PAJLPX DKC1|SNORA56 INTRON|UTR SNP Somatic 18 0.908 SQHIGH 21 0 21 0 32 32 A G A TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 1736|677835 X 154003359 154003359 145 WT diagnosis snv B4GALT2 silent G280G NM_003780 50-PAJLSP B4GALT2 SYNONYMOUS SNP Somatic 14 0.623 SQHIGH 11 17 28 0 26 26 Cosmic_Gene C C T C C TARGET-50-PAJLSP-01A-01D TARGET-50-PAJLSP-11A-01D 8704 1 44451049 44451049 36 WT diagnosis snv C2orf50 missense R141C NM_182500 50-PAJLSP C2orf50 MISSENSE SNP Somatic 10 0.404 SQHIGH 31 39 70 1 83 84 C C T C C TARGET-50-PAJLSP-01A-01D TARGET-50-PAJLSP-11A-01D 130813 2 11284169 11284169 113 WT diagnosis snv C6orf25 missense A228V NM_138272 50-PAJLSP LY6G6C|C6orf25 TSS-UPSTREAM|UTR3,SYNONYMOUS,MISSENSE SNP Somatic -6 0.082 SQHIGH 8 16 24 0 16 16 C C T C C TARGET-50-PAJLSP-01A-01D TARGET-50-PAJLSP-11A-01D 80740|80739 6 31692808 31692808 20 WT diagnosis snv EYS missense R1331I NM_001142800 50-PAJLSP EYS MISSENSE SNP Somatic 7 0.306 SQHIGH 20 47 67 0 62 62 Cosmic_Gene C C A C C TARGET-50-PAJLSP-01A-01D TARGET-50-PAJLSP-11A-01D 346007 6 65301768 65301768 64 WT diagnosis snv SACS missense T2529S NM_014363 50-PAJLSP SACS MISSENSE SNP Somatic -5 0.089 SQHIGH 5 39 44 0 37 37 Cosmic_Gene G G C G G TARGET-50-PAJLSP-01A-01D TARGET-50-PAJLSP-11A-01D 26278 13 23910429 23910429 14 WT diagnosis snv TBC1D21 silent T157T NM_153356 50-PAJLSP TBC1D21 SYNONYMOUS SNP Somatic PFAM:PF00566:TBC 8 0.335 SQHIGH 25 40 65 0 63 63 Cosmic_Gene G G A G G TARGET-50-PAJLSP-01A-01D TARGET-50-PAJLSP-11A-01D 161514 15 74177225 74177225 86 WT diagnosis snv LPHN1 silent P1305P NM_001008701 50-PAJLSP LOC100507373|LPHN1 INTRON|SYNONYMOUS SNP Somatic PFAM:PF02354:Latrophilin -4 0.095 SQHIGH 6 11 17 0 19 19 Cosmic_Gene C C G C C TARGET-50-PAJLSP-01A-01D TARGET-50-PAJLSP-11A-01D 100507373|22859 19 14262195 14262195 22 WT diagnosis complex MFRP frameshift S75fs NM_031433 50-PAJLSP MFRP|C1QTNF5 FRAMESHIFT|UTR5 Sub Somatic -7 0.352 SQHIGH 5 24 29 0 42 42 GCT GCT GA GCT GCT TARGET-50-PAJLSP-01A-01D TARGET-50-PAJLSP-11A-01D 83552|114902 11 119216802 119216804 20 WT diagnosis snv CSRP1 missense L80P NM_004078 50-PAJLTH CSRP1 MISSENSE SNP Somatic 0 0.134 SQHIGH 14 72 86 1 86 87 Cosmic_Gene A A G A A TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 1465 1 201459346 201459346 36 WT diagnosis snv OR14C36 missense V195I NM_001001918 50-PAJLTH OR14C36 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 1 0.148 SQHIGH 15 77 92 0 78 78 Cosmic_Gene G G A G G TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 127066 1 248512659 248512659 42 WT diagnosis snv CYP1B1 missense E176V NM_000104 50-PAJLTH CYP1B1 MISSENSE SNP Somatic PFAM:PF00067:p450 -4 0.092 SQHIGH 4 4 8 0 16 16 Cosmic_Gene T T A T T TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 1545 2 38302005 38302005 22 WT diagnosis snv FAT2 missense G2019S NM_001447 50-PAJLTH FAT2 MISSENSE SNP Somatic -9 0.061 SQHIGH 5 29 34 1 57 58 Cosmic_Gene C C T C C TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 2196 5 150924633 150924633 16 WT diagnosis snv TRIM10 missense C383S NM_052828 50-PAJLTH TRIM10 UTR3,MISSENSE SNP Somatic -6 0.078 SQHIGH 7 38 45 1 50 51 A A T A A TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 10107 6 30121506 30121506 17 WT diagnosis snv PNMA2 silent P320P NM_007257 50-PAJLTH PNMA2 SYNONYMOUS SNP Somatic 5 0.227 SQHIGH 22 26 48 4 81 85 C C T C C TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 10687 8 26365312 26365312 77 WT diagnosis snv CRY2 missense E593Q NM_021117 50-PAJLTH CRY2 MISSENSE SNP Somatic -9 0.061 SQHIGH 4 33 37 0 75 75 Cosmic_Gene G G C G G TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 1408 11 45893714 45893714 20 WT diagnosis snv RHNO1 missense A144P NM_001252499 50-PAJLTH C12orf32|TULP3 UTR|TSS-UPSTREAM SNP Somatic 9 0.363 SQHIGH 21 36 57 0 66 66 G G C G G TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 83695|7289 12 2997338 2997338 81 WT diagnosis snv GSX1 missense H68R NM_145657 50-PAJLTH GSX1 MISSENSE SNP Somatic -3 0.100 SQHIGH 6 19 25 0 32 32 Cosmic_Gene A A G A A TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 219409 13 28367030 28367030 23 WT diagnosis snv MRPS11 missense R187P NM_022839 50-PAJLTH MRPS11 MISSENSE SNP Somatic PFAM:PF00411:Ribosomal_S11 -5 0.085 SQHIGH 7 51 58 1 67 68 G G C G G TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 64963 15 89021185 89021185 17 WT diagnosis snv POLR3E splice_region P622_E18splice_region NM_018119 50-PAJLTH POLR3E DONOR SNP Somatic -10 0.056 SQHIGH 3 15 18 0 48 48 Cosmic_Gene A A G A A TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 55718 16 22337603 22337603 17 WT diagnosis snv PFAS splice_region G1128_E27splice_region NM_012393 50-PAJLTH PFAS ACCEPTOR SNP Somatic 0 0.134 SQHIGH 4 13 17 0 34 34 Cosmic_Gene T T A T T TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 5198 17 8171841 8171841 20 WT diagnosis snv DCC missense L1186P NM_005215 50-PAJLTH DCC MISSENSE SNP Somatic PFAM:PF06583:Neogenin_C -10 0.056 SQHIGH 5 33 38 0 36 36 Cosmic_Gene T T C T T TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 1630 18 50985766 50985766 15 WT diagnosis snv MAST3 silent L282L NM_015016 50-PAJLTH MAST3 SYNONYMOUS SNP Somatic PFAM:PF08926:DUF1908 -10 0.056 SQHIGH 5 13 18 1 26 27 Cosmic_Gene C C T C C TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 23031 19 18235162 18235162 15 WT diagnosis snv EPB41L1 missense E634K NM_012156 50-PAJLTH EPB41L1 MISSENSE SNP Somatic 8 0.331 SQHIGH 27 29 56 2 65 67 Cosmic_Gene G G A G G TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 2036 20 34797641 34797641 89 WT diagnosis snv PDXP silent T202T NM_020315 50-PAJLTH PDXP SYNONYMOUS SNP Somatic -10 0.056 SQHIGH 4 32 36 1 73 74 Cosmic_Gene A A T A A TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 57026 22 38061593 38061593 14 WT diagnosis complex CYP1B1 frameshift A174_R175fs NM_000104 50-PAJLTH CYP1B1 FRAMESHIFT Sub Somatic PFAM:PF00067:p450 -8 0.309 SQHIGH 5 7 12 0 25 25 Cosmic_Gene GCGC GCGC GTG GCGC GCGC TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 1545 2 38302007 38302010 27 WT diagnosis mnv PCDHB15 missense N447_A448>KT NM_018935 50-PAJLTH PCDHB15 MISSENSE Sub Somatic -31 0.030 4 39 43 0 55 55 Cosmic_Gene CG CG AA CG CG TARGET-50-PAJLTH-01A-01D TARGET-50-PAJLTH-11A-01D 56121 5 140626487 140626488 15 WT diagnosis snv UBR4 missense G2785V NM_020765 50-PAJLTI UBR4 MISSENSE SNP Somatic 11 0.377 SQHIGH 8 18 26 0 35 35 Cosmic_Gene C C A C C TARGET-50-PAJLTI-01A-01D TARGET-50-PAJLTI-11A-01D 23352 1 19467975 19467975 33 WT diagnosis snv AIM1L missense A1469T NM_001039775 50-PAJLTI AIM1L MISSENSE SNP Somatic PFAM:PF00030:Crystall -8 0.055 SQHIGH 5 26 31 0 26 26 Cosmic_Gene C C T C C TARGET-50-PAJLTI-01A-01D TARGET-50-PAJLTI-11A-01D 55057 1 26655274 26655274 14 WT diagnosis snv PER2 silent P871P NM_022817 50-PAJLTI PER2 SYNONYMOUS SNP Somatic -5 0.069 SQHIGH 9 11 20 0 14 14 Cosmic_Gene A A G A A TARGET-50-PAJLTI-01A-01D TARGET-50-PAJLTI-11A-01D 8864 2 239162051 239162051 25 WT diagnosis snv MAML1 missense L465P NM_014757 50-PAJLTI MAML1 MISSENSE SNP Somatic 8 0.267 SQHIGH 20 18 38 1 42 43 Cosmic_Gene T T C T T TARGET-50-PAJLTI-01A-01D TARGET-50-PAJLTI-11A-01D 9794 5 179193405 179193405 70 WT diagnosis snv UNC5D silent G39G NM_080872 50-PAJLTI UNC5D SYNONYMOUS SNP Somatic -34 0.003 5 35 40 0 48 48 Cosmic_Gene C C T C C TARGET-50-PAJLTI-01A-01D TARGET-50-PAJLTI-11A-01D 137970 8 35406823 35406823 18 WT diagnosis snv MGMT silent S190S NM_002412 50-PAJLTI MGMT SYNONYMOUS SNP Somatic 19 0.970 SQHIGH 18 13 31 0 52 52 Cosmic_Gene C C T C C TARGET-50-PAJLTI-01A-01D TARGET-50-PAJLTI-11A-01D 4255 10 131565114 131565114 96 WT diagnosis snv SLC38A7 missense Q269K NM_018231 50-PAJLTI SLC38A7 MISSENSE SNP Somatic PFAM:PF01490:Aa_trans -7 0.059 SQHIGH 3 6 9 0 16 16 Cosmic_Gene G G T G G TARGET-50-PAJLTI-01A-01D TARGET-50-PAJLTI-11A-01D 55238 16 58709922 58709922 14 WT diagnosis snv TIAM1 silent Y858Y NM_003253 50-PAJLTI TIAM1 SYNONYMOUS SNP Somatic -5 0.069 SQHIGH 6 25 31 0 33 33 Cosmic_Gene G G A G G TARGET-50-PAJLTI-01A-01D TARGET-50-PAJLTI-11A-01D 7074 21 32567541 32567541 20 WT diagnosis snv PRR34 missense S22P NM_018280 50-PAJLTI C22orf26|LOC150381 MISSENSE|INTRON SNP Somatic -10 0.047 SQHIGH 4 12 16 0 17 17 A A G A A TARGET-50-PAJLTI-01A-01D TARGET-50-PAJLTI-11A-01D 55267|150381 22 46449910 46449910 14 WT diagnosis snv ABHD1 missense L258P NM_032604 50-PAJLUJ ABHD1 MISSENSE SNP Somatic -4 0.077 SQHIGH 4 16 20 0 27 27 T T C T T TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 84696 2 27352777 27352777 16 WT diagnosis snv NAT6 silent P261P NM_012191 50-PAJLUJ HYAL3|NAT6|IFRD2 INTRON|SYNONYMOUS|TSS-UPSTREAM SNP Somatic -6 0.067 SQHIGH 5 24 29 0 25 25 Cosmic_Gene A A G A A TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 8372|24142|7866 3 50334178 50334178 14 WT diagnosis snv CADPS missense V125A NM_003716 50-PAJLUJ CADPS MISSENSE SNP Somatic 17 0.818 SQHIGH 11 14 25 0 38 38 Cosmic_Gene A A G A A TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 8618 3 62860331 62860331 51 WT diagnosis snv MINA silent S47S NM_001042533 50-PAJLUJ MINA SYNONYMOUS SNP Somatic -6 0.067 SQHIGH 8 59 67 1 58 59 Cosmic_Gene C C T C C TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 84864 3 97686297 97686297 16 WT diagnosis snv HTT silent T394T NM_002111 50-PAJLUJ HTT SYNONYMOUS SNP Somatic -6 0.067 SQHIGH 6 7 13 0 22 22 Cosmic_Gene C C G C C TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 3064 4 3123068 3123068 30 WT diagnosis snv SNX9 missense R559G NM_016224 50-PAJLUJ SNX9 MISSENSE SNP Somatic 12 0.406 SQHIGH 21 26 47 0 31 31 C C G C C TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 51429 6 158361941 158361941 56 WT diagnosis snv MTSS1 missense R700W NM_014751 50-PAJLUJ MTSS1 MISSENSE SNP Somatic 10 0.318 SQHIGH 16 19 35 0 45 45 Cosmic_Gene G G A G G TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 9788 8 125565403 125565403 68 WT diagnosis snv DOCK8 missense E247K NM_203447 50-PAJLUJ DOCK8 MISSENSE SNP Somatic 2 0.134 SQHIGH 30 28 58 0 44 44 Cosmic_Gene G G A G G TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 81704 9 312164 312164 93 WT diagnosis snv WT1 nonsense S364* NM_000378 50-PAJLUJ WT1 NONSENSE SNP Somatic PFAM:PF02165:WT1 9 0.282 SQHIGH 33 28 61 0 29 29 COSMIC:mut:27307 Cosmic_Gene G G T G G TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 7490 11 32417910 32417910 73 WT diagnosis snv PLEKHG7 silent T340T NM_001004330 50-PAJLUJ PLEKHG7 SYNONYMOUS SNP Somatic 17 0.818 SQHIGH 17 18 35 0 44 44 Cosmic_Gene G G A G G TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 440107 12 93162844 93162844 72 WT diagnosis snv GLP2R missense R453H NM_004246 50-PAJLUJ GLP2R MISSENSE SNP Somatic 18 0.875 SQHIGH 16 12 28 0 38 38 Cosmic_Gene G G A G G TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 9340 17 9792718 9792718 74 WT diagnosis snv DNAH17 missense R2922C NM_173628 50-PAJLUJ DNAH17 MISSENSE SNP Somatic PFAM:PF00485:PRK 17 0.818 SQHIGH 27 22 49 0 57 57 Cosmic_Gene G G A G G TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 8632 17 76464713 76464713 114 WT diagnosis snv NLRP12 silent A872A NM_001277126 50-PAJLUJ NLRP12 SYNONYMOUS SNP Somatic -5 0.071 SQHIGH 5 21 26 0 22 22 Cosmic_Gene A A G A A TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 91662 19 54304624 54304624 14 WT diagnosis snv GPKOW missense G219D NM_015698 50-PAJLUJ GPKOW MISSENSE SNP Somatic 19 0.947 SQHIGH 19 20 39 0 42 42 Cosmic_Gene C C T C C TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 27238 X 48974075 48974075 73 WT diagnosis snv DVL1 splice_region G422_E13splice_region NM_004421 50-PAJMEL DVL1 ACCEPTOR SNP Somatic 2 0.134 SQHIGH 8 20 28 0 19 19 G G A G G TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 1855 1 1273823 1273823 20 WT diagnosis snv HDAC4 missense G752S NM_006037 50-PAJMEL HDAC4 MISSENSE SNP Somatic PFAM:PF00850:Hist_deacetyl 9 0.276 SQHIGH 25 36 61 0 50 50 Cosmic_Gene C C T C C TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 9759 2 240016717 240016717 77 WT diagnosis snv NGLY1 missense E556G NM_018297 50-PAJMEL NGLY1 INTRON,MISSENSE SNP Somatic PFAM:PF04721:DUF750 -6 0.070 SQHIGH 5 22 27 0 26 26 Cosmic_Gene T T C T T TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 55768 3 25761627 25761627 16 WT diagnosis snv CTNNB1 missense T41N NM_001904 50-PAJMEL CTNNB1 MISSENSE SNP Somatic 18 0.872 SQHIGH 22 1 23 0 26 26 COSMIC:mut:5730 Cosmic_Gene C A A C C TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 1499 3 41266125 41266125 123 WT diagnosis snv TMEM44-AS1 EXON E10_exon NM_138399 50-PAJMEL TMEM44|LOC100507297 INTRON|UTR SNP Somatic -9 0.056 SQHIGH 6 25 31 0 23 23 T T C T T TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 93109|100507297 3 194309812 194309812 15 WT diagnosis snv DROSHA missense D1151G NM_013235 50-PAJMEL DROSHA MISSENSE SNP Somatic 9 0.276 SQHIGH 16 17 33 0 28 28 Cosmic_Gene T T C T T TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 29102 5 31421452 31421452 52 WT diagnosis snv ZFR nonsense *1075L NM_016107 50-PAJMEL ZFR NONSTOP SNP Somatic -3 0.086 SQHIGH 5 24 29 0 39 39 T T A T T TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 51663 5 32355867 32355867 19 WT diagnosis snv CDHR2 silent S834S NM_001171976 50-PAJMEL CDHR2 SYNONYMOUS SNP Somatic 16 0.692 SQHIGH 23 22 45 0 49 49 Cosmic_Gene G G A G G TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 54825 5 176011784 176011784 91 WT diagnosis snv HIVEP1 missense S123P NM_002114 50-PAJMEL HIVEP1 MISSENSE SNP Somatic -9 0.056 SQHIGH 8 37 45 0 49 49 Cosmic_Gene T T C T T TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 3096 6 12120395 12120395 27 WT diagnosis snv ZNF138 missense E284G NM_006524 50-PAJMEL ZNF138 UTR3,MISSENSE,UTR SNP Somatic -7 0.064 SQHIGH 9 33 42 0 45 45 A A G A A TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 7697 7 64292549 64292549 31 WT diagnosis snv NOTCH1 silent P7P NM_017617 50-PAJMEL NOTCH1 SYNONYMOUS SNP Somatic -4 0.080 SQHIGH 5 8 13 0 14 14 Cosmic_Gene G G C G G TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 4851 9 139440218 139440218 18 WT diagnosis snv NOTCH1 missense A6P NM_017617 50-PAJMEL NOTCH1 MISSENSE SNP Somatic -4 0.080 SQHIGH 5 9 14 0 13 13 Cosmic_Gene C C G C C TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 4851 9 139440223 139440223 16 WT diagnosis snv DDX11 missense R234Q NM_030653 50-PAJMEL DDX11 MISSENSE SNP Somatic PFAM:PF06733:DEAD_2 -3 0.086 SQHIGH 24 63 87 0 72 72 Cosmic_Gene G G A G G TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 1663 12 31241994 31241994 70 WT diagnosis snv PSMC6 splice_region F83_E3splice_region NM_002806 50-PAJMEL PSMC6 DONOR SNP Somatic -1 0.101 SQHIGH 7 23 30 1 34 35 Cosmic_Gene A A G A A TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 5706 14 53175244 53175244 18 WT diagnosis snv ZNF791 silent T237T NM_153358 50-PAJMEL ZNF791 SYNONYMOUS SNP Somatic -8 0.060 SQHIGH 6 22 28 2 44 46 Cosmic_Gene T T C T T TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 163049 19 12739054 12739054 15 WT diagnosis snv DMKN nonsense R383* NM_001126056 50-PAJMEL DMKN TSS-UPSTREAM,NONSENSE,UTR SNP Somatic 6 0.200 SQHIGH 29 23 52 1 38 39 Cosmic_Gene G G A G G TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 93099 19 35993743 35993743 79 WT diagnosis snv PDXK missense F90I NM_003681 50-PAJMEL PDXK MISSENSE SNP Somatic PFAM:PF00294:PfkB -5 0.074 SQHIGH 5 27 32 0 23 23 T T A T T TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 8566 21 45163625 45163625 12 WT diagnosis mnv AKAP5 missense K48_P49>KA NM_004857 50-PAJMEL AKAP5 MISSENSE Sub Somatic -7 0.312 SQHIGH 6 27 33 0 43 43 GC GC AG GC GC TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 9495 14 64935256 64935257 23 WT diagnosis snv GNB2 missense R96H NM_005273 50-PAJMEN GNB2 MISSENSE SNP Somatic -2 0.067 SQHIGH 21 12 33 0 25 25 Cosmic_Gene G G A G G TARGET-50-PAJMEN-01A-01D TARGET-50-PAJMEN-10A-01D 2783 7 100275140 100275140 Somatic Illumina 70 51863 41454 93323 93768 55 93831 WT diagnosis snv RLIM nonsense C588* NM_016120 50-PAJMEN RLIM NONSENSE SNP Somatic 7 0.310 SQHIGH 56 59 115 0 90 90 Cosmic_Gene A A T A A TARGET-50-PAJMEN-01A-01D TARGET-50-PAJMEN-10A-01D 51132 X 73811386 73811386 Somatic Illumina 175 60462 13673 74248 89607 4 89753 WT diagnosis snv PRCC missense E23G NM_005973 50-PAJMEP PRCC MISSENSE SNP Somatic -6 0.072 SQHIGH 7 13 20 1 21 22 Cosmic_Gene A A G A A TARGET-50-PAJMEP-01A-01D TARGET-50-PAJMEP-11A-01D 5546 1 156737631 156737631 18 WT diagnosis snv OR2M5 missense Y218C NM_001004690 50-PAJMEP OR2M5 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 8 0.293 SQHIGH 23 32 55 0 47 47 Cosmic_Gene A A G A A TARGET-50-PAJMEP-01A-01D TARGET-50-PAJMEP-11A-01D 127059 1 248309102 248309102 73 WT diagnosis snv NPHP3 missense V996M NM_153240 50-PAJMEP NPHP3-ACAD11|NPHP3 UTR|MISSENSE SNP dbsnp.134:rs150867534 Somatic 15 0.661 SQHIGH 18 19 37 0 47 47 Cosmic_Gene C C T C C TARGET-50-PAJMEP-01A-01D TARGET-50-PAJMEP-11A-01D 100532724|27031 3 132407633 132407633 77 WT diagnosis snv BLOC1S6 missense D46N NM_012388 50-PAJMEP BLOC1S6 MISSENSE SNP Somatic -5 0.077 SQHIGH 5 28 33 0 34 34 Cosmic_Gene G G A G G TARGET-50-PAJMEP-01A-01D TARGET-50-PAJMEP-11A-01D 26258 15 45884386 45884386 16 WT diagnosis snv PER2 silent P871P NM_022817 50-PAJMFU PER2 SYNONYMOUS SNP Somatic 1 0.123 SQHIGH 7 15 22 1 19 20 Cosmic_Gene A A G A A TARGET-50-PAJMFU-01A-01D TARGET-50-PAJMFU-11A-01D 8864 2 239162051 239162051 15 WT diagnosis snv DROSHA missense E1147K NM_013235 50-PAJMFU DROSHA MISSENSE SNP Somatic -5 0.075 SQHIGH 16 22 38 0 35 35 Cosmic_Gene C C T C C TARGET-50-PAJMFU-01A-01D TARGET-50-PAJMFU-11A-01D 29102 5 31421465 31421465 54 WT diagnosis snv LDHAL6B missense I343V NM_033195 50-PAJMFU LDHAL6B|MYO1E MISSENSE|INTRON SNP Somatic -5 0.075 SQHIGH 9 37 46 1 38 39 Cosmic_Gene A A G A A TARGET-50-PAJMFU-01A-01D TARGET-50-PAJMFU-11A-01D 92483|4643 15 59500166 59500166 18 WT diagnosis complex PER2 frameshift P872fs NM_022817 50-PAJMFU PER2 FRAMESHIFT Sub Somatic -10 0.255 SQHIGH 7 15 22 1 21 22 Cosmic_Gene GG GG GCC GG GG TARGET-50-PAJMFU-01A-01D TARGET-50-PAJMFU-11A-01D 8864 2 239162047 239162048 16 WT diagnosis mnv ADAMTS2 missense G602_L603>GS NM_014244 50-PAJMFU ADAMTS2 MISSENSE Sub Somatic -7 0.298 SQHIGH 5 14 19 0 25 25 Cosmic_Gene AGG AGG GAA AGG AGG TARGET-50-PAJMFU-01A-01D TARGET-50-PAJMFU-11A-01D 9509 5 178564913 178564915 20 WT diagnosis snv LCE2A silent K15K NM_178428 50-PAJMFY LCE2A SYNONYMOUS SNP Somatic -9 0.063 SQHIGH 6 22 28 0 30 30 G G A G G TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 353139 1 152671422 152671422 20 WT diagnosis snv GPC1 missense P206L NM_002081 50-PAJMFY LOC100505507|GPC1 UTR|MISSENSE SNP Somatic PFAM:PF01153:Glypican 0 0.137 SQHIGH 15 27 42 1 37 38 Cosmic_Gene C C T C C TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 100505507|2817 2 241401899 241401899 38 WT diagnosis snv PDHA2 silent R12R NM_005390 50-PAJMFY PDHA2 SYNONYMOUS SNP Somatic -8 0.068 SQHIGH 6 48 54 0 54 54 Cosmic_Gene A A C A A TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 5161 4 96761337 96761337 19 WT diagnosis snv CA2 missense R226H NM_000067 50-PAJMFY CA2 MISSENSE SNP Somatic 9 0.351 SQHIGH 16 20 36 0 37 37 Cosmic_Gene G G A G G TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 760 8 86392912 86392912 59 WT diagnosis snv SIX1 missense Q177R NM_005982 50-PAJMFY SIX1 MISSENSE SNP Somatic 13 0.560 SQHIGH 14 24 38 0 41 41 T T C T T TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 6495 14 61115378 61115378 51 WT diagnosis snv ZNF768 missense T456S NM_024671 50-PAJMFY ZNF768 MISSENSE SNP Somatic -2 0.113 SQHIGH 4 21 25 0 37 37 G G C G G TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 79724 16 30536094 30536094 16 WT diagnosis snv DEF8 splice_region R58_E2splice_region NM_207514 50-PAJMFY DEF8 INTRON,DONOR SNP Somatic 9 0.351 SQHIGH 12 15 27 0 34 34 Cosmic_Gene C C T C C TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 54849 16 90016050 90016050 50 WT diagnosis snv GP1BA silent P445P NM_000173 50-PAJMFY GP1BA SYNONYMOUS SNP dbsnp.121:rs12939437 Somatic -8 0.068 SQHIGH 6 12 18 0 13 13 C C A C C TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 2811 17 4837234 4837234 16 WT diagnosis snv KDM6B missense A77V NM_001080424 50-PAJMFY KDM6B MISSENSE SNP Somatic -10 0.059 SQHIGH 3 19 22 0 45 45 Cosmic_Gene C C T C C TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 23135 17 7749282 7749282 15 WT diagnosis snv TAF1 splice D138_E4splice NM_004606 50-PAJMFY TAF1 MISSENSE SNP Somatic -4 0.095 SQHIGH 8 26 34 2 45 47 Cosmic_Gene A A T A A TARGET-50-PAJMFY-01A-01D TARGET-50-PAJMFY-11A-01D 6872 X 70595017 70595017 19 WT diagnosis snv PROC missense S346C NM_000312 50-PAJMJK MIR4783|PROC TSS-UPSTREAM|MISSENSE SNP Somatic 5 0.190 SQHIGH 9 20 29 0 16 16 A A T A A TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 100616187|5624 2 128186172 128186172 19 WT diagnosis snv LAMB2 missense P933H NM_002292 50-PAJMJK USP19|LAMB2 TSS-UPSTREAM|MISSENSE SNP Somatic 7 0.238 SQHIGH 7 22 29 0 49 49 Cosmic_Gene G G T G G TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 10869|3913 3 49162525 49162525 32 WT diagnosis snv ELF2 missense A4V NM_201999 50-PAJMJK ELF2 MISSENSE SNP Somatic PFAM:PF12310:Elf-1_N 2 0.143 SQHIGH 5 14 19 0 26 26 Cosmic_Gene G G A G G TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 1998 4 140058845 140058845 20 WT diagnosis snv TRIO missense V698L NM_007118 50-PAJMJK TRIO MISSENSE SNP Somatic -10 0.052 SQHIGH 4 22 26 0 30 30 Cosmic_Gene G G C G G TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 7204 5 14358332 14358332 14 WT diagnosis snv APC silent K2249K NM_000038 50-PAJMJK APC SYNONYMOUS SNP Somatic PFAM:PF05956:APC_basic -2 0.099 SQHIGH 6 31 37 0 33 33 Cosmic_Gene A A G A A TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 324 5 112178038 112178038 18 WT diagnosis snv TCP1 splice_region R266_E7splice_region NM_030752 50-PAJMJK SNORA20|TCP1 TSS-UPSTREAM|DONOR SNP Somatic -10 0.052 SQHIGH 4 25 29 0 33 33 Cosmic_Gene A A C A A TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 677806|6950 6 160204967 160204967 14 WT diagnosis snv CARD11 splice_region R837_E19splice_region NM_032415 50-PAJMJK CARD11 ACCEPTOR SNP Somatic 14 0.557 SQHIGH 10 25 35 0 39 39 Cosmic_Gene G G T G G TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 84433 7 2958231 2958231 36 WT diagnosis snv EGFR missense R1031W NM_005228 50-PAJMJK EGFR MISSENSE SNP Somatic -5 0.076 SQHIGH 5 25 30 0 23 23 Cosmic_Gene C C T C C TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 1956 7 55269025 55269025 13 WT diagnosis snv PCLO missense T2548N NM_033026 50-PAJMJK PCLO MISSENSE SNP Somatic -1 0.108 SQHIGH 4 13 17 0 19 19 Cosmic_Gene G G T G G TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 27445 7 82582626 82582626 14 WT diagnosis snv PKHD1L1 missense S2640F NM_177531 50-PAJMJK PKHD1L1 MISSENSE SNP Somatic 2 0.143 SQHIGH 8 34 42 0 39 39 Cosmic_Gene C C T C C TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 93035 8 110476980 110476980 24 WT diagnosis snv PIK3C2G silent T1391T NM_004570 50-PAJMJK PIK3C2G SYNONYMOUS SNP Somatic -5 0.076 SQHIGH 6 21 27 1 32 33 Cosmic_Gene T T C T T TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 5288 12 18793476 18793476 16 WT diagnosis snv MRS2P2 EXON E1_exon NM_022771 50-PAJMJK MRS2P2|TBC1D15 UTR|INTRON SNP Somatic -8 0.061 SQHIGH 10 41 51 1 49 50 T T C T T TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 729633|64786 12 72243770 72243770 24 WT diagnosis snv SBNO1 missense M1186T NM_001167856 50-PAJMJK SBNO1 MISSENSE SNP Somatic -10 0.052 SQHIGH 7 25 32 0 36 36 Cosmic_Gene A A G A A TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 55206 12 123793930 123793930 25 WT diagnosis snv SPTB missense E683G NM_001024858 50-PAJMJK SPTB MISSENSE SNP Somatic -10 0.052 SQHIGH 6 28 34 1 39 40 Cosmic_Gene T T C T T TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 6710 14 65260333 65260333 15 WT diagnosis snv ISG20 silent T106T NM_002201 50-PAJMJK ISG20 SYNONYMOUS SNP Somatic 3 0.157 SQHIGH 6 25 31 0 36 36 A A C A A TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 3669 15 89195430 89195430 21 WT diagnosis snv ZNF91 nonsense E521* NM_003430 50-PAJMJK ZNF91 NONSENSE SNP Somatic 6 0.214 SQHIGH 8 20 28 0 23 23 C C A C C TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 7644 19 23544220 23544220 23 WT diagnosis snv FCGRT missense L263P NM_001136019 50-PAJMJK FCGRT|RCN3 MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF00047:ig -10 0.052 SQHIGH 8 22 30 1 24 25 Cosmic_Gene T T C T T TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 2217|57333 19 50027950 50027950 16 WT diagnosis snv TENM1 nonsense E112* NM_001163278 50-PAJMJK TENM1 NONSENSE SNP Somatic PFAM:PF06484:Ten_N -2 0.099 SQHIGH 8 31 39 0 34 34 Cosmic_Gene C C A C C TARGET-50-PAJMJK-01A-01D TARGET-50-PAJMJK-10A-01D 10178 X 124029974 124029974 23 WT diagnosis snv TRIM46 missense G548R NM_001282379 50-PAJMKI TRIM46 INTRON SNP Somatic 13 0.460 SQHIGH 12 6 18 0 21 21 Cosmic_Gene G G A G G TARGET-50-PAJMKI-01A-01D TARGET-50-PAJMKI-11A-01D 80128 1 155152964 155152964 53 WT diagnosis snv BAZ2B splice_region K1254_E24splice_region NM_013450 50-PAJMKI BAZ2B|LOC100505957 INTRON|TSS-UPSTREAM SNP Somatic -10 0.051 SQHIGH 3 11 14 0 29 29 Cosmic_Gene C C T C C TARGET-50-PAJMKI-01A-01D TARGET-50-PAJMKI-11A-01D 29994|100505957 2 160240107 160240107 15 WT diagnosis snv XIRP2-AS1 EXON E2_exon NM_152381 50-PAJMKI XIRP2 INTRON SNP Somatic 9 0.284 SQHIGH 10 10 20 0 40 40 Cosmic_Gene C C G C C TARGET-50-PAJMKI-01A-01D TARGET-50-PAJMKI-11A-01D 129446 2 167980152 167980152 56 WT diagnosis snv TP53 missense R175H NM_000546 50-PAJMKI TP53 MISSENSE SNP dbsnp.125:rs28934578 Somatic 12 0.403 SQHIGH 12 2 14 1 24 25 COSMIC:mut:99022,COSMIC:mut:99914,COSMIC:mut:99023,COSMIC:mut:10648,COSMIC:mut:99024 Cosmic_Gene C T T C C TARGET-50-PAJMKI-01A-01D TARGET-50-PAJMKI-11A-01D 7157 17 7578406 7578406 66 WT diagnosis snv ETV4 silent A255A NM_001986 50-PAJMKI ETV4 SYNONYMOUS SNP Somatic PFAM:PF04621:ETS_PEA3_N 12 0.403 SQHIGH 24 0 24 0 32 32 Cosmic_Gene C A A C C TARGET-50-PAJMKI-01A-01D TARGET-50-PAJMKI-11A-01D 2118 17 41610088 41610088 156 WT diagnosis snv ZNF521 missense G965R NM_015461 50-PAJMKI ZNF521 MISSENSE SNP Somatic 17 0.795 SQHIGH 22 24 46 0 61 61 Cosmic_Gene C C T C C TARGET-50-PAJMKI-01A-01D TARGET-50-PAJMKI-11A-01D 25925 18 22804989 22804989 97 WT diagnosis snv CEP250 missense E2216D NM_007186 50-PAJMKI CEP250 MISSENSE SNP Somatic -10 0.051 SQHIGH 5 41 46 0 40 40 Cosmic_Gene G G T G G TARGET-50-PAJMKI-01A-01D TARGET-50-PAJMKI-11A-01D 11190 20 34095578 34095578 14 WT diagnosis snv FAM83F silent E115E NM_138435 50-PAJMKI FAM83F SYNONYMOUS SNP Somatic PFAM:PF07894:DUF1669 19 0.928 SQHIGH 28 0 28 0 29 29 Cosmic_Gene G A A G G TARGET-50-PAJMKI-01A-01D TARGET-50-PAJMKI-11A-01D 113828 22 40391391 40391391 162 WT diagnosis snv MMEL1 splice_region L563_E17splice_region NM_033467 50-PAJMKJ MMEL1 DONOR SNP Somatic -7 0.075 SQHIGH 7 29 36 2 63 65 T T C T T TARGET-50-PAJMKJ-01A-01D TARGET-50-PAJMKJ-11A-01D 79258 1 2526225 2526225 20 WT diagnosis snv PKDCC missense T294R NM_138370 50-PAJMKJ PKDCC MISSENSE SNP Somatic PFAM:PF03109:ABC1 10 0.367 SQHIGH 24 39 63 1 61 62 Cosmic_Gene C C G C C TARGET-50-PAJMKJ-01A-01D TARGET-50-PAJMKJ-11A-01D 91461 2 42281294 42281294 71 WT diagnosis snv ACTBL2 silent H89H NM_001017992 50-PAJMKJ ACTBL2 SYNONYMOUS SNP Somatic 9 0.329 SQHIGH 17 72 89 0 118 118 Cosmic_Gene G G A G G TARGET-50-PAJMKJ-01A-01D TARGET-50-PAJMKJ-11A-01D 345651 5 56778268 56778268 66 WT diagnosis snv TNKS missense A1269S NM_003747 50-PAJMKJ TNKS MISSENSE SNP Somatic 15 0.701 SQHIGH 13 7 20 0 24 24 Cosmic_Gene G G T G G TARGET-50-PAJMKJ-01A-01D TARGET-50-PAJMKJ-11A-01D 8658 8 9627680 9627680 58 WT diagnosis snv GDF6 silent G163G NM_001001557 50-PAJMKJ GDF6 SYNONYMOUS SNP Somatic PFAM:PF00688:TGFb_propeptide -39 0.001 3 21 24 0 44 44 Cosmic_Gene G G A G G TARGET-50-PAJMKJ-01A-01D TARGET-50-PAJMKJ-11A-01D 392255 8 97157670 97157670 14 WT diagnosis snv HOXB1 missense R232W NM_002144 50-PAJMKJ HOXB1 MISSENSE SNP Somatic -3 0.100 SQHIGH 14 67 81 3 76 79 Cosmic_Gene G G A G G TARGET-50-PAJMKJ-01A-01D TARGET-50-PAJMKJ-11A-01D 3211 17 46607121 46607121 23 WT diagnosis snv IQCC silent P3P NM_001160042 50-PAJMLI IQCC|LOC100652837|DCDC2B SYNONYMOUS|INTRON,TSS-UPSTREAM|TSS-UPSTREAM SNP Somatic 18 0.889 SQHIGH 13 9 22 1 30 31 Cosmic_Gene A A G A A TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 55721|100652837|149069 1 32671291 32671291 52 WT diagnosis snv ZFP69 nonsense E296* NM_198494 50-PAJMLI ZNF642 NONSENSE SNP Somatic 6 0.209 SQHIGH 20 14 34 0 48 48 G G T G G TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 339559 1 40961036 40961036 96 WT diagnosis snv DRD4 missense M112I NM_000797 50-PAJMLI DRD4 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -7 0.063 SQHIGH 6 35 41 1 54 55 G G A G G TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 1815 11 639483 639483 16 WT diagnosis snv CTTN splice_region D153_E7splice_region NM_005231 50-PAJMLI CTTN INTRON SNP Somatic 15 0.660 SQHIGH 32 23 55 0 52 52 Cosmic_Gene C C G C C TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 2017 11 70261832 70261832 120 WT diagnosis snv ACTC1 missense R41Q NM_005159 50-PAJMLI ACTC1 MISSENSE SNP Somatic PFAM:PF00022:Actin -4 0.080 SQHIGH 17 16 33 0 28 28 Cosmic_Gene C C T C C TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 70 15 35086888 35086888 57 WT diagnosis snv KIAA0753 missense M778K NM_014804 50-PAJMLI KIAA0753 MISSENSE SNP Somatic 6 0.209 SQHIGH 21 0 21 0 33 33 A T T A A TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 9851 17 6499503 6499503 147 WT diagnosis snv RINL missense L231P NM_198445 50-PAJMLI RINL MISSENSE SNP Somatic -10 0.049 SQHIGH 5 20 25 0 19 19 Cosmic_Gene A A G A A TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 126432 19 39360891 39360891 13 WT diagnosis snv SPTBN4 missense A2527V NM_020971 50-PAJMLI SPTBN4|SHKBP1 MISSENSE|TSS-UPSTREAM SNP Somatic 14 0.563 SQHIGH 23 14 37 0 33 33 Cosmic_Gene C C T C C TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 57731|92799 19 41081360 41081360 85 WT diagnosis snv FRMPD4 missense R135W NM_014728 50-PAJMLI FRMPD4 MISSENSE SNP Somatic 18 0.889 SQHIGH 20 0 20 0 18 18 Cosmic_Gene C T C TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 9758 X 12632981 12632981 105 WT diagnosis snv MROH7 missense R761Q NM_001039464 50-PAJMMY HEATR8|HEATR8-TTC4 MISSENSE,UTR|UTR SNP dbsnp.134:rs148550771 Somatic 14 0.607 SQHIGH 19 24 43 0 37 37 Cosmic_Gene G G A G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 374977|100527960 1 55145619 55145619 62 WT diagnosis snv SLC22A15 missense F441L NM_018420 50-PAJMMY SLC22A15 MISSENSE SNP Somatic 6 0.249 SQHIGH 22 39 61 0 71 71 Cosmic_Gene C C A C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 55356 1 116607087 116607087 85 WT diagnosis snv MYRIP missense L138Q NM_015460 50-PAJMMY MYRIP MISSENSE SNP Somatic -10 0.062 SQHIGH 3 18 21 0 50 50 Cosmic_Gene T T A T T TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 25924 3 40192619 40192619 16 WT diagnosis snv AMOTL2 missense R141Q NM_016201 50-PAJMMY AMOTL2 MISSENSE SNP Somatic 6 0.249 SQHIGH 26 29 55 0 39 39 Cosmic_Gene C C T C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 51421 3 134089854 134089854 75 WT diagnosis snv MECOM missense R270H NM_001105077 50-PAJMMY MECOM MISSENSE SNP Somatic 5 0.223 SQHIGH 14 41 55 0 48 48 Cosmic_Gene C C T C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 2122 3 168834482 168834482 42 WT diagnosis snv NCAPG missense R732C NM_022346 50-PAJMMY NCAPG MISSENSE SNP Somatic PFAM:PF12719:Cnd3 4 0.200 SQHIGH 14 3 17 0 23 23 Cosmic_Gene C C T C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 64151 4 17838866 17838866 75 WT diagnosis snv UGT2A2 nonsense Y117* NM_001105677 50-PAJMMY UGT2A1|UGT2A2 INTRON|NONSENSE SNP Somatic PFAM:PF00201:UDPGT 1 0.145 SQHIGH 8 39 47 0 53 53 Cosmic_Gene G G T G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 10941|574537 4 70505008 70505008 28 WT diagnosis snv CYFIP2 silent F448F NM_001037333 50-PAJMMY CYFIP2 SYNONYMOUS SNP Somatic PFAM:PF05994:FragX_IP 16 0.754 SQHIGH 13 25 38 0 59 59 T T C T T TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 26999 5 156742090 156742090 59 WT diagnosis snv TRERF1 silent S621S NM_033502 50-PAJMMY TRERF1 SYNONYMOUS SNP Somatic 2 0.161 SQHIGH 35 74 109 1 69 70 Cosmic_Gene C C G C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 55809 6 42231079 42231079 74 WT diagnosis snv IMPG1 missense H427N NM_001563 50-PAJMMY IMPG1 MISSENSE SNP Somatic -6 0.082 SQHIGH 11 79 90 0 56 56 Cosmic_Gene G G T G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 3617 6 76712647 76712647 24 WT diagnosis snv TAB2 missense L487I NM_015093 50-PAJMMY TAB2 MISSENSE SNP Somatic 9 0.356 SQHIGH 16 60 76 0 60 60 C C A C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 23118 6 149700510 149700510 44 WT diagnosis snv ABCA13 missense D3165Y NM_152701 50-PAJMMY ABCA13 MISSENSE SNP Somatic -9 0.066 SQHIGH 7 74 81 0 58 58 Cosmic_Gene G G T G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 154664 7 48349715 48349715 17 WT diagnosis snv SLC26A4 missense V670I NM_000441 50-PAJMMY SLC26A4 MISSENSE SNP Somatic 6 0.249 SQHIGH 16 48 64 0 43 43 Cosmic_Gene G G A G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 5172 7 107342476 107342476 39 WT diagnosis snv NCOA2 nonsense R501* NM_006540 50-PAJMMY NCOA2 NONSENSE SNP Somatic 8 0.325 SQHIGH 20 58 78 0 75 75 Cosmic_Gene G G A G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 10499 8 71069099 71069099 64 WT diagnosis snv SLC26A7 missense L247M NM_052832 50-PAJMMY SLC26A7 MISSENSE SNP Somatic PFAM:PF00916:Sulfate_transp 10 0.391 SQHIGH 11 30 41 0 25 25 Cosmic_Gene C C A C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 115111 8 92346619 92346619 25 WT diagnosis snv DNAI1 missense P592R NM_012144 50-PAJMMY DNAI1 MISSENSE SNP Somatic PFAM:PF00400:WD40 7 0.292 SQHIGH 23 45 68 0 59 59 C C G C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 27019 9 34514694 34514694 71 WT diagnosis snv AMOTL1 missense V908I NM_130847 50-PAJMMY AMOTL1 MISSENSE SNP dbsnp.134:rs144423593 Somatic 12 0.478 SQHIGH 10 29 39 0 58 58 Cosmic_Gene G G A G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 154810 11 94602596 94602596 43 WT diagnosis snv TENC1 missense R565W NM_015319 50-PAJMMY TENC1|LOC283335 MISSENSE|TSS-UPSTREAM SNP Somatic 3 0.180 SQHIGH 12 39 51 1 36 37 Cosmic_Gene C C T C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 23371|283335 12 53453088 53453088 23 WT diagnosis snv OR10A7 silent Y252Y NM_001005280 50-PAJMMY OR10A7 SYNONYMOUS SNP dbsnp.134:rs144769420 Somatic PFAM:PF00001:7tm_1 5 0.223 SQHIGH 20 45 65 0 43 43 Cosmic_Gene C C T C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 121364 12 55615564 55615564 50 WT diagnosis snv POLE missense R924C NM_006231 50-PAJMMY POLE MISSENSE SNP Somatic 6 0.249 SQHIGH 16 37 53 0 77 77 Cosmic_Gene G G A G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 5426 12 133238207 133238207 69 WT diagnosis snv FNDC3A missense P41L NM_001079673 50-PAJMMY FNDC3A MISSENSE SNP Somatic 12 0.478 SQHIGH 10 14 24 0 32 32 Cosmic_Gene C C T C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 22862 13 49649447 49649447 43 WT diagnosis snv ARHGEF40 missense A641P NM_018071 50-PAJMMY ARHGEF40 MISSENSE SNP Somatic -7 0.076 SQHIGH 4 42 46 0 50 50 Cosmic_Gene G G C G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 55701 14 21544936 21544936 13 WT diagnosis snv RNF31 missense L302F NM_017999 50-PAJMMY PSME2|RNF31 TSS-UPSTREAM|MISSENSE SNP Somatic 15 0.700 SQHIGH 36 38 74 1 91 92 Cosmic_Gene G G T G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 5721|55072 14 24619366 24619366 139 WT diagnosis snv CD276 missense D524E NM_001024736 50-PAJMMY CD276 MISSENSE SNP Somatic 9 0.356 SQHIGH 16 57 73 0 104 104 Cosmic_Gene C C A C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 80381 15 74003501 74003501 66 WT diagnosis snv ACSM5 missense Q98K NM_017888 50-PAJMMY ACSM5 MISSENSE SNP Somatic -5 0.088 SQHIGH 6 42 48 0 39 39 Cosmic_Gene C C A C C TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 54988 16 20429468 20429468 16 WT diagnosis snv ZCCHC14 missense P817S NM_015144 50-PAJMMY ZCCHC14 MISSENSE SNP Somatic -10 0.062 SQHIGH 4 21 25 1 57 58 Cosmic_Gene G G A G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 23174 16 87445467 87445467 16 WT diagnosis snv MPRIP missense Q223H NM_015134 50-PAJMMY MPRIP MISSENSE SNP Somatic 2 0.161 SQHIGH 7 18 25 0 24 24 G G C G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 23164 17 17039697 17039697 23 WT diagnosis snv FOXN1 silent P566P NM_003593 50-PAJMMY FOXN1 SYNONYMOUS SNP Somatic 8 0.325 SQHIGH 22 49 71 0 85 85 Cosmic_Gene G G A G G TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 8456 17 26864205 26864205 84 WT diagnosis snv DCC splice_region D819_E17splice_region NM_005215 50-PAJMMY DCC ACCEPTOR SNP Somatic 5 0.223 SQHIGH 8 16 24 0 34 34 Cosmic_Gene A A T A A TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 1630 18 50918017 50918017 34 WT diagnosis snv CEACAM1 missense N195S NM_001712 50-PAJMMY CEACAM1 MISSENSE SNP Somatic 14 0.607 SQHIGH 31 24 55 0 46 46 Cosmic_Gene T T C T T TARGET-50-PAJMMY-01A-01D TARGET-50-PAJMMY-11A-01D 634 19 43026195 43026195 106 WT diagnosis snv ACOX3 missense F16L NM_003501 50-PAJMRL ACOX3 MISSENSE SNP Somatic 8 0.390 SQHIGH 16 28 44 0 76 76 Cosmic_Gene G G T G G TARGET-50-PAJMRL-01A-01D TARGET-50-PAJMRL-10A-01D 8310 4 8418201 8418201 79 WT diagnosis snv PCGF2 missense S304P NM_007144 50-PAJMRL PCGF2|CISD3 MISSENSE|UTR3 SNP Somatic -9 0.074 SQHIGH 4 18 22 0 32 32 Cosmic_Gene A A G A A TARGET-50-PAJMRL-01A-01D TARGET-50-PAJMRL-10A-01D 7703|284106 17 36891601 36891601 16 WT diagnosis complex ACOX3 nonsense R18_G19>K* NM_003501 50-PAJMRL ACOX3 NONSENSE Sub Somatic -6 0.324 SQHIGH 25 33 58 0 91 91 Cosmic_Gene CCCC CCCC CTATT CCCC CCCC TARGET-50-PAJMRL-01A-01D TARGET-50-PAJMRL-10A-01D 8310 4 8418193 8418196 120 WT diagnosis snv FLG missense R292G NM_002016 50-PAJMUF FLG MISSENSE SNP Somatic 18 0.880 SQHIGH 31 32 63 0 47 47 Cosmic_Gene G G C G G TARGET-50-PAJMUF-01A-01D TARGET-50-PAJMUF-10A-01D 2312 1 152286488 152286488 94 WT diagnosis snv CTNNB1 missense T41A NM_001904 50-PAJMUF CTNNB1 MISSENSE SNP dbsnp.133:rs121913412 Somatic 15 0.635 SQHIGH 11 20 31 0 34 34 COSMIC:mut:5664 Cosmic_Gene A A G A A TARGET-50-PAJMUF-01A-01D TARGET-50-PAJMUF-10A-01D 1499 3 41266124 41266124 40 WT diagnosis snv EDC3 missense G452D NM_001142443 50-PAJMUF EDC3 MISSENSE SNP Somatic PFAM:PF03853:YjeF_N 17 0.827 SQHIGH 25 23 48 0 37 37 Cosmic_Gene C C T C C TARGET-50-PAJMUF-01A-01D TARGET-50-PAJMUF-10A-01D 80153 15 74925125 74925125 78 WT diagnosis snv GNAS nonsense S82* NM_001077490 50-PAJMUF GNAS|GNAS-AS1 INTRON,MISSENSE,NONSENSE|TSS-UPSTREAM SNP Somatic -10 0.049 SQHIGH 4 18 22 0 28 28 Cosmic_Gene C C G C C TARGET-50-PAJMUF-01A-01D TARGET-50-PAJMUF-10A-01D 2778|149775 20 57428752 57428752 15 WT diagnosis snv EFCAB6 missense L774Q NM_022785 50-PAJMUF EFCAB6 MISSENSE SNP Somatic 0 0.118 SQHIGH 7 52 59 0 41 41 Cosmic_Gene A A T A A TARGET-50-PAJMUF-01A-01D TARGET-50-PAJMUF-10A-01D 64800 22 44022471 44022471 17 WT diagnosis snv EFCAB6 missense L773P NM_022785 50-PAJMUF EFCAB6 MISSENSE SNP Somatic -1 0.106 SQHIGH 7 58 65 0 38 38 Cosmic_Gene A A G A A TARGET-50-PAJMUF-01A-01D TARGET-50-PAJMUF-10A-01D 64800 22 44022474 44022474 15 WT diagnosis snv GRPEL1 missense E69K NM_025196 50-PAJMVU GRPEL1 MISSENSE SNP Somatic -7 0.070 SQHIGH 6 24 30 1 34 35 C C T C C TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 80273 4 7065808 7065808 15 WT diagnosis snv MUC22 missense I437T NM_001198815 50-PAJMVU MUC22 MISSENSE SNP Somatic -7 0.070 SQHIGH 6 19 25 0 29 29 T T C T T TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 100507679 6 30994518 30994518 22 WT diagnosis snv ACTB missense G146V NM_001101 50-PAJMVU ACTB|LOC100505829 MISSENSE|INTRON SNP Somatic PFAM:PF00022:Actin 4 0.197 SQHIGH 31 25 56 1 39 40 C C A C C TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 60|100505829 7 5568277 5568277 81 WT diagnosis snv MACC1-AS1 EXON E6_exon NM_182762 50-PAJMVU MACC1 INTRON SNP Somatic 12 0.467 SQHIGH 15 15 30 0 30 30 Cosmic_Gene C C T C C TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 346389 7 20187053 20187053 55 WT diagnosis snv PTPRN2 missense E996G NM_002847 50-PAJMVU PTPRN2 MISSENSE SNP Somatic -6 0.076 SQHIGH 7 26 33 1 36 37 Cosmic_Gene T T C T T TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 5799 7 157333469 157333469 17 WT diagnosis snv GALNT4 missense E231G NM_003774 50-PAJMVU POC1B-GALNT4|POC1B|GALNT4 INTRON,MISSENSE|INTRON|MISSENSE SNP Somatic -10 0.055 SQHIGH 10 49 59 0 39 39 Cosmic_Gene T T C T T TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 100528030|282809|8693 12 89917635 89917635 23 WT diagnosis snv ACADS missense R325Q NM_000017 50-PAJMVU ACADS MISSENSE SNP Somatic 5 0.222 SQHIGH 10 20 30 0 26 26 Cosmic_Gene G G A G G TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 35 12 121176663 121176663 31 WT diagnosis snv AHNAK2 silent D1141D NM_138420 50-PAJMVU AHNAK2 SYNONYMOUS SNP Somatic -8 0.065 SQHIGH 4 18 22 0 23 23 Cosmic_Gene G G A G G TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 113146 14 105418365 105418365 13 WT diagnosis snv RNF165 missense E240G NM_152470 50-PAJMVU RNF165 MISSENSE SNP Somatic -9 0.059 SQHIGH 9 27 36 1 45 46 A A G A A TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 494470 18 44030362 44030362 27 WT diagnosis snv ANKLE1 missense R575C NM_152363 50-PAJMVU ANKLE1 MISSENSE SNP Somatic -9 0.059 SQHIGH 8 41 49 0 29 29 C C T C C TARGET-50-PAJMVU-01A-01D TARGET-50-PAJMVU-10A-01D 126549 19 17396514 17396514 17 WT diagnosis snv AKR1A1 missense P223R NM_006066 50-PAJMXF AKR1A1 MISSENSE SNP Somatic PFAM:PF00248:Aldo_ket_red -2 0.071 SQHIGH 5 30 35 0 47 47 C C G C C TARGET-50-PAJMXF-01A-01D TARGET-50-PAJMXF-10A-01D 10327 1 46034272 46034272 19 WT diagnosis snv GPR78 missense Q360R NM_080819 50-PAJMXF GPR78 MISSENSE SNP Somatic -7 0.045 SQHIGH 7 13 20 1 23 24 Cosmic_Gene A A G A A TARGET-50-PAJMXF-01A-01D TARGET-50-PAJMXF-10A-01D 27201 4 8589077 8589077 20 WT diagnosis snv DYNC1H1 missense R4638Q NM_001376 50-PAJMXF DYNC1H1 MISSENSE SNP Somatic PFAM:PF03028:Dynein_heavy 17 0.921 SQHIGH 39 26 65 0 70 70 Cosmic_Gene G G A G G TARGET-50-PAJMXF-01A-01D TARGET-50-PAJMXF-10A-01D 1778 14 102516872 102516872 Somatic Illumina 161 38040 34195 72447 58329 35 58524 WT diagnosis mnv DCTD missense A152_R153>DG NM_001012732 50-PAJMXF DCTD MISSENSE Sub Somatic -8 0.234 SQHIGH 5 24 29 0 37 37 TCG TCG CGT TCG TCG TARGET-50-PAJMXF-01A-01D TARGET-50-PAJMXF-10A-01D 1635 4 183814218 183814220 19 WT diagnosis snv RNF186 missense E139Q NM_019062 50-PAJNAA RNF186 MISSENSE SNP dbsnp.132:rs112876882 Somatic -7 0.069 SQHIGH 5 29 34 0 38 38 C C G C C TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 54546 1 20141180 20141180 17 WT diagnosis snv ROR1-AS1 EXON E4_exon NM_005012 50-PAJNAA ROR1 INTRON SNP Somatic 2 0.144 SQHIGH 5 20 25 0 27 27 Cosmic_Gene A A T A A TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 4919 1 64560853 64560853 17 WT diagnosis snv KIDINS220 missense T1000A NM_020738 50-PAJNAA KIDINS220 MISSENSE SNP Somatic 2 0.144 SQHIGH 11 8 19 0 20 20 Cosmic_Gene T T C T T TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 57498 2 8910813 8910813 43 WT diagnosis snv SCN9A silent D1460D NM_002977 50-PAJNAA SCN9A SYNONYMOUS SNP Somatic 9 0.301 SQHIGH 9 8 17 0 15 15 Cosmic_Gene G G A G G TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 6335 2 167060960 167060960 31 WT diagnosis snv LOC644762 EXON E3_exon NM_000440 50-PAJNAA PDE6A INTRON SNP Somatic -7 0.069 SQHIGH 8 24 32 0 45 45 Cosmic_Gene A A G A A TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 5145 5 149311142 149311142 33 WT diagnosis snv ICK missense S341N NM_014920 50-PAJNAA ICK MISSENSE SNP Somatic 10 0.336 SQHIGH 8 29 37 0 44 44 Cosmic_Gene C C T C C TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 22858 6 52878590 52878590 29 WT diagnosis snv KLHDC10 silent R84R NM_014997 50-PAJNAA KLHDC10 SYNONYMOUS SNP Somatic -9 0.060 SQHIGH 4 18 22 0 35 35 A A G A A TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 23008 7 129736846 129736846 17 WT diagnosis snv FGFR1 missense K656E NM_023110 50-PAJNAA FGFR1 MISSENSE SNP Somatic 4 0.175 SQHIGH 38 35 73 0 66 66 COSMIC:mut:35673 Cosmic_Gene T T C T T TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 2260 8 38272308 38272308 134 WT diagnosis snv BRINP1 splice_region G137_E3splice_region NM_014618 50-PAJNAA BRINP1 DONOR SNP Somatic -6 0.074 SQHIGH 5 17 22 0 34 34 Cosmic_Gene A A G A A TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 1620 9 122011232 122011232 22 WT diagnosis snv GTF3C4 missense G178S NM_012204 50-PAJNAA GTF3C4 MISSENSE SNP Somatic PFAM:PF12657:TFIIIC_delta -9 0.060 SQHIGH 5 44 49 0 35 35 Cosmic_Gene G G A G G TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 9329 9 135553538 135553538 12 WT diagnosis snv ZNF641 splice E1_splice NM_001172682 50-PAJNAA ZNF641 DISRUPT,TSS-UPSTREAM SNP Somatic -10 0.056 SQHIGH 6 14 20 0 14 14 Cosmic_Gene C C A C C TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 121274 12 48744990 48744990 15 WT diagnosis snv TP53 missense P278S NM_000546 50-PAJNAA TP53 MISSENSE SNP Somatic 13 0.478 SQHIGH 24 2 26 1 24 25 COSMIC:mut:10939 Cosmic_Gene G G A G G TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 7157 17 7577106 7577106 105 WT diagnosis snv NPC1 missense R341C NM_000271 50-PAJNAA NPC1 MISSENSE SNP Somatic 6 0.221 SQHIGH 23 37 60 0 51 51 Cosmic_Gene G G A G G TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 4864 18 21136512 21136512 72 WT diagnosis snv HS6ST2 silent A74A NM_001077188 50-PAJNAA HS6ST2 SYNONYMOUS SNP Somatic 2 0.144 SQHIGH 9 28 37 0 32 32 C C A C C TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 90161 X 132092409 132092409 27 WT diagnosis snv CEP70 splice_region K456_E14splice_region NM_024491 50-PAJNAV CEP70 INTRON SNP dbsnp.132:rs113264564 Somatic -2 0.094 SQHIGH 10 4 14 0 13 13 Cosmic_Gene T T G T T TARGET-50-PAJNAV-01A-01D TARGET-50-PAJNAV-11A-01D 80321 3 138219567 138219567 39 WT diagnosis snv SMARCA5 missense V573L NM_003601 50-PAJNAV SMARCA5 MISSENSE SNP Somatic 2 0.136 SQHIGH 5 5 10 1 22 23 Cosmic_Gene G G C G G TARGET-50-PAJNAV-01A-01D TARGET-50-PAJNAV-11A-01D 8467 4 144460038 144460038 23 WT diagnosis snv EP300 silent Q363Q NM_001429 50-PAJNAV EP300 SYNONYMOUS SNP Somatic PFAM:PF02135:zf-TAZ -6 0.067 SQHIGH 5 28 33 0 26 26 Cosmic_Gene G G A G G TARGET-50-PAJNAV-01A-01D TARGET-50-PAJNAV-11A-01D 2033 22 41523673 41523673 13 WT diagnosis mnv FREM3 missense D1970R NM_001168235 50-PAJNAV FREM3 MISSENSE Sub Somatic PFAM:PF03160:Calx-beta -9 0.266 SQHIGH 3 14 17 0 32 32 ATC ATC TCT ATC ATC TARGET-50-PAJNAV-01A-01D TARGET-50-PAJNAV-11A-01D 166752 4 144532550 144532552 14 WT diagnosis mnv TMEM179B missense C77L NM_199337 50-PAJNAV TMEM179B MISSENSE Sub Somatic -1 0.525 SQHIGH 4 13 17 1 50 51 TGC TGC CTT TGC TGC TARGET-50-PAJNAV-01A-01D TARGET-50-PAJNAV-11A-01D 374395 11 62556627 62556629 19 WT diagnosis mnv ZNF469 missense S262P NM_001127464 50-PAJNAV ZNF469 MISSENSE Sub Somatic -4 0.379 SQHIGH 6 8 14 0 25 25 AG AG CC AG AG TARGET-50-PAJNAV-01A-01D TARGET-50-PAJNAV-11A-01D 84627 16 88494662 88494663 30 WT diagnosis snv LRIF1 missense S233Y NM_018372 50-PAJNCC LOC100506293|LRIF1 UTR|INTRON,MISSENSE SNP Somatic 12 0.494 SQHIGH 18 6 24 1 47 48 Cosmic_Gene G G T G G TARGET-50-PAJNCC-01A-01D TARGET-50-PAJNCC-11A-01D 100506293|55791 1 111494808 111494808 103 WT diagnosis snv SLC39A7 missense T17A NM_006979 50-PAJNCC HSD17B8|RXRB|SLC39A7 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE SNP Somatic -6 0.076 SQHIGH 5 23 28 0 24 24 Cosmic_Gene A A G A A TARGET-50-PAJNCC-01A-01D TARGET-50-PAJNCC-11A-01D 7923|6257|7922 6 33169071 33169071 14 WT diagnosis snv C7orf49 missense P41Q NM_024033 50-PAJNCC C7orf49 MISSENSE,UTR SNP Somatic -3 0.096 SQHIGH 5 22 27 0 22 22 Cosmic_Gene G G T G G TARGET-50-PAJNCC-01A-01D TARGET-50-PAJNCC-11A-01D 78996 7 134853553 134853553 14 WT diagnosis snv ABCA1 missense T1512M NM_005502 50-PAJNCC ABCA1 MISSENSE SNP Somatic -39 0.001 3 17 20 1 64 65 Cosmic_Gene G G A G G TARGET-50-PAJNCC-01A-01D TARGET-50-PAJNCC-11A-01D 19 9 107566931 107566931 14 WT diagnosis snv ATXN2 missense N700S NM_002973 50-PAJNCC ATXN2 MISSENSE SNP Somatic 4 0.190 SQHIGH 5 10 15 0 25 25 Cosmic_Gene T T C T T TARGET-50-PAJNCC-01A-01D TARGET-50-PAJNCC-11A-01D 6311 12 111948326 111948326 23 WT diagnosis snv FREM2 missense R1515C NM_207361 50-PAJNCC FREM2 MISSENSE SNP Somatic 14 0.635 SQHIGH 47 53 100 0 96 96 Cosmic_Gene C C T C C TARGET-50-PAJNCC-01A-01D TARGET-50-PAJNCC-11A-01D 341640 13 39266024 39266024 168 WT diagnosis snv DOCK9 missense R695I NM_001130049 50-PAJNCC DOCK9 MISSENSE SNP Somatic 13 0.555 SQHIGH 12 24 36 1 35 36 Cosmic_Gene C C A C C TARGET-50-PAJNCC-01A-01D TARGET-50-PAJNCC-11A-01D 23348 13 99538841 99538841 32 WT diagnosis snv TFDP1 nonsense K186* NM_007111 50-PAJNCC TFDP1 NONSENSE,UTR SNP Somatic 3 0.172 SQHIGH 37 60 97 0 71 71 Cosmic_Gene A A T A A TARGET-50-PAJNCC-01A-01D TARGET-50-PAJNCC-11A-01D 7027 13 114288286 114288286 104 WT diagnosis snv PODN silent T234T NM_153703 50-PAJNCJ PODN SYNONYMOUS,INTRON SNP Somatic 5 0.233 SQHIGH 18 32 50 0 50 50 Cosmic_Gene C C G C C TARGET-50-PAJNCJ-01A-01D TARGET-50-PAJNCJ-11A-01D 127435 1 53541620 53541620 62 WT diagnosis snv MYCN missense P44L NM_005378 50-PAJNCJ MYCNOS|MYCN TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01056:Myc_N 10 0.407 SQHIGH 14 23 37 0 44 44 COSMIC:mut:35624 Cosmic_Gene C C T C C TARGET-50-PAJNCJ-01A-01D TARGET-50-PAJNCJ-11A-01D 10408|4613 2 16082317 16082317 55 WT diagnosis snv FAM186B silent S66S NM_032130 50-PAJNCJ FAM186B SYNONYMOUS,UTR SNP Somatic -6 0.083 SQHIGH 4 29 33 0 41 41 Cosmic_Gene A A G A A TARGET-50-PAJNCJ-01A-01D TARGET-50-PAJNCJ-11A-01D 84070 12 49998220 49998220 14 WT diagnosis snv TMPRSS6 missense S717R NM_153609 50-PAJNCJ TMPRSS6 MISSENSE SNP Somatic -1 0.130 SQHIGH 4 33 37 0 71 71 Cosmic_Gene G G C G G TARGET-50-PAJNCJ-01A-01D TARGET-50-PAJNCJ-11A-01D 164656 22 37462992 37462992 19 WT diagnosis snv EMILIN1 silent P824P NM_007046 50-PAJNCZ EMILIN1|KHK SYNONYMOUS|TSS-UPSTREAM SNP Somatic -7 0.073 SQHIGH 4 18 22 0 39 39 Cosmic_Gene T T C T T TARGET-50-PAJNCZ-01A-01D TARGET-50-PAJNCZ-11A-01D 11117|3795 2 27307314 27307314 19 WT diagnosis snv HEATR2 silent T736T NM_017802 50-PAJNCZ HEATR2 SYNONYMOUS SNP Somatic 15 0.719 SQHIGH 25 26 51 0 75 75 Cosmic_Gene G G A G G TARGET-50-PAJNCZ-01A-01D TARGET-50-PAJNCZ-11A-01D 54919 7 814768 814768 118 WT diagnosis snv ZNF596 missense C164F NM_001042416 50-PAJNCZ ZNF596 MISSENSE SNP Somatic 5 0.212 SQHIGH 14 37 51 0 63 63 G G T G G TARGET-50-PAJNCZ-01A-01D TARGET-50-PAJNCZ-11A-01D 169270 8 195338 195338 54 WT diagnosis snv CHD7 missense M186K NM_017780 50-PAJNCZ CHD7 MISSENSE SNP Somatic PFAM:PF09606:Med15 -4 0.093 SQHIGH 6 45 51 1 68 69 Cosmic_Gene T T A T T TARGET-50-PAJNCZ-01A-01D TARGET-50-PAJNCZ-11A-01D 55636 8 61654548 61654548 16 WT diagnosis mnv LAMA3 missense P17G NM_198129 50-PAJNCZ LAMA3 MISSENSE Sub Somatic -10 0.285 SQHIGH 5 13 18 0 17 17 Cosmic_Gene CC CC GG CC CC TARGET-50-PAJNCZ-01A-01D TARGET-50-PAJNCZ-11A-01D 3909 18 21269696 21269697 16 WT diagnosis snv DDOST missense V384M NM_005216 50-PAJNDU DDOST MISSENSE SNP Somatic PFAM:PF03345:DDOST_48kD 4 0.163 SQHIGH 23 38 61 0 46 46 C C T C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 1650 1 20979185 20979185 66 WT diagnosis snv MAP3K6 missense P1130L NM_004672 50-PAJNDU MAP3K6 MISSENSE SNP Somatic 6 0.202 SQHIGH 16 34 50 0 56 56 Cosmic_Gene G G A G G TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 9064 1 27683216 27683216 59 WT diagnosis snv GABPB2 missense D118Y NM_144618 50-PAJNDU GABPB2 MISSENSE SNP Somatic PFAM:PF12796:Ank_2 12 0.403 SQHIGH 21 13 34 0 21 21 G G T G G TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 126626 1 151065743 151065743 60 WT diagnosis snv TTN missense E11798K NM_001267550 50-PAJNDU TTN INTRON SNP Somatic 11 0.355 SQHIGH 10 10 20 0 21 21 Cosmic_Gene C C T C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 7273 2 179534397 179534397 38 WT diagnosis snv CHL1 silent A1105A NM_006614 50-PAJNDU CHL1 SYNONYMOUS SNP Somatic 1 0.123 SQHIGH 6 24 30 0 37 37 Cosmic_Gene G G A G G TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 10752 3 440761 440761 22 WT diagnosis snv NBEAL2 silent G1061G NM_015175 50-PAJNDU NBEAL2 SYNONYMOUS SNP Somatic 10 0.317 SQHIGH 27 19 46 0 31 31 Cosmic_Gene C C T C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 23218 3 47040017 47040017 80 WT diagnosis snv HSD17B4 missense R634C NM_000414 50-PAJNDU HSD17B4 MISSENSE SNP Somatic PFAM:PF02036:SCP2 -23 0.014 9 7 16 0 9 9 Cosmic_Gene C C T C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 3295 5 118867006 118867006 23 WT diagnosis snv USP49 missense G220S NM_018561 50-PAJNDU USP49 MISSENSE SNP Somatic 1 0.123 SQHIGH 15 20 35 1 21 22 Cosmic_Gene C C T C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 25862 6 41774064 41774064 29 WT diagnosis snv LOC729658 EXON E5_exon NM_152410 50-PAJNDU PACRG|LOC729658 INTRON|INTRON SNP Somatic 17 0.827 SQHIGH 26 15 41 0 44 44 C C T C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 135138|729658 6 163602678 163602678 109 WT diagnosis snv FAM131B missense R73Q NM_001031690 50-PAJNDU FAM131B MISSENSE SNP Somatic 16 0.708 SQHIGH 33 21 54 0 44 44 C C T C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 9715 7 143056469 143056469 114 WT diagnosis snv PTK2B missense T65M NM_173174 50-PAJNDU PTK2B MISSENSE SNP dbsnp.134:rs150796343 Somatic -10 0.050 SQHIGH 6 44 50 0 46 46 Cosmic_Gene C C T C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 2185 8 27255295 27255295 18 WT diagnosis snv PLEKHA1 silent P294P NM_021622 50-PAJNDU PLEKHA1 SYNONYMOUS SNP Somatic 10 0.317 SQHIGH 8 12 20 0 30 30 Cosmic_Gene C C A C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 59338 10 124186529 124186529 36 WT diagnosis snv KIF18A silent Y339Y NM_031217 50-PAJNDU KIF18A SYNONYMOUS SNP Somatic 16 0.708 SQHIGH 15 9 24 0 26 26 Cosmic_Gene G G A G G TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 81930 11 28106236 28106236 62 WT diagnosis snv ARID2 missense I732T NM_152641 50-PAJNDU ARID2 MISSENSE SNP Somatic 10 0.317 SQHIGH 12 23 35 0 38 38 Cosmic_Gene T T C T T TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 196528 12 46244101 46244101 43 WT diagnosis snv CCNT1 silent F602F NM_001240 50-PAJNDU CCNT1|LOC144438 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 15 0.630 SQHIGH 41 33 74 0 62 62 Cosmic_Gene G G A G G TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 904|144438 12 49087191 49087191 140 WT diagnosis snv MAP4K5 missense A301T NM_006575 50-PAJNDU MAP4K5 MISSENSE SNP Somatic 9 0.280 SQHIGH 7 13 20 0 27 27 Cosmic_Gene C C T C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 11183 14 50929418 50929418 29 WT diagnosis snv KDM8 missense G37V NM_001145348 50-PAJNDU KDM8 UTR5,MISSENSE SNP Somatic 5 0.179 SQHIGH 16 36 52 0 41 41 Cosmic_Gene G G T G G TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 79831 16 27221440 27221440 46 WT diagnosis snv ZNF771 silent E13E NM_016643 50-PAJNDU ZNF771 SYNONYMOUS SNP Somatic -6 0.068 SQHIGH 8 32 40 1 34 35 A A G A A TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 51333 16 30419413 30419413 16 WT diagnosis snv VPS9D1 silent P66P NM_004913 50-PAJNDU LOC100128881|C16orf7|ZNF276 UTR|SYNONYMOUS|TSS-UPSTREAM SNP Somatic -9 0.053 SQHIGH 6 11 17 0 15 15 G G A G G TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 100128881|9605|92822 16 89783208 89783208 19 WT diagnosis snv CCDC40 missense Q791E NM_017950 50-PAJNDU CCDC40 MISSENSE SNP Somatic PFAM:PF08647:BRE1 -10 0.050 SQHIGH 6 18 24 0 25 25 Cosmic_Gene C C G C C TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 55036 17 78059937 78059937 20 WT diagnosis snv SOGA1 nonsense R354* NM_080627 50-PAJNDU SOGA1 NONSENSE SNP Somatic 9 0.280 SQHIGH 20 30 50 1 47 48 Cosmic_Gene G G A G G TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 140710 20 35457468 35457468 57 WT diagnosis snv ZNF512B missense R683C NM_020713 50-PAJNDU ZNF512B MISSENSE SNP Somatic 4 0.163 SQHIGH 17 14 31 0 21 21 G G A G G TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 57473 20 62594056 62594056 49 WT diagnosis snv DCSTAMP missense W240C NM_030788 50-PAJNEC DCSTAMP MISSENSE SNP Somatic 11 0.351 SQHIGH 22 33 55 0 54 54 Cosmic_Gene G G C G G TARGET-50-PAJNEC-01A-01D TARGET-50-PAJNEC-11A-01D 81501 8 105361500 105361500 77 WT diagnosis snv RAPSN missense R259C NM_005055 50-PAJNEC RAPSN MISSENSE SNP dbsnp.134:rs150207592 Somatic -3 0.089 SQHIGH 10 27 37 0 12 12 Cosmic_Gene G G A G G TARGET-50-PAJNEC-01A-01D TARGET-50-PAJNEC-11A-01D 5913 11 47463389 47463389 14 WT diagnosis snv TENM4 missense V740I NM_001098816 50-PAJNEC TENM4 MISSENSE SNP Somatic 16 0.699 SQHIGH 26 33 59 0 42 42 Cosmic_Gene C C T C C TARGET-50-PAJNEC-01A-01D TARGET-50-PAJNEC-11A-01D 26011 11 78498090 78498090 74 WT diagnosis snv PELP1 silent P1027P NM_014389 50-PAJNEC PELP1 SYNONYMOUS SNP Somatic 9 0.280 SQHIGH 5 17 22 0 28 28 Cosmic_Gene A A G A A TARGET-50-PAJNEC-01A-01D TARGET-50-PAJNEC-11A-01D 27043 17 4575355 4575355 19 WT diagnosis snv DGCR8 missense E518K NM_022720 50-PAJNEC DGCR8 MISSENSE SNP Somatic PFAM:PF00035:dsrm 20 0.995 SQHIGH 32 4 36 0 61 61 G G A G G TARGET-50-PAJNEC-01A-01D TARGET-50-PAJNEC-11A-01D 54487 22 20079439 20079439 209 WT diagnosis snv FAM47A silent K439K NM_203408 50-PAJNEC FAM47A SYNONYMOUS SNP Somatic 14 0.532 SQHIGH 28 34 62 0 53 53 Cosmic_Gene C C T C C TARGET-50-PAJNEC-01A-01D TARGET-50-PAJNEC-11A-01D 158724 X 34149079 34149079 91 WT diagnosis snv AMER1 nonsense R358* NM_152424 50-PAJNEC FAM123B NONSENSE SNP dbsnp.133:rs137852217 Somatic PFAM:PF09422:WTX 7 0.226 SQHIGH 20 30 50 0 51 51 COSMIC:mut:22960 Cosmic_Gene G G A G G TARGET-50-PAJNEC-01A-01D TARGET-50-PAJNEC-11A-01D 139285 X 63412095 63412095 72 WT diagnosis snv TRAF5 silent N535N NM_004619 50-PAJNJJ TRAF5 SYNONYMOUS SNP dbsnp.134:rs147801247 Somatic 12 0.502 SQHIGH 14 26 40 0 54 54 Cosmic_Gene C C T C C TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 7188 1 211545975 211545975 59 WT diagnosis snv ATR missense S700F NM_001184 50-PAJNJJ ATR MISSENSE SNP Somatic -10 0.059 SQHIGH 4 21 25 0 35 35 Cosmic_Gene G G A G G TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 545 3 142274961 142274961 16 WT diagnosis snv ADH6 silent T239T NM_001102470 50-PAJNJJ ADH6|LOC100507053 SYNONYMOUS|INTRON SNP Somatic 13 0.562 SQHIGH 13 19 32 0 50 50 Cosmic_Gene A A G A A TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 130|100507053 4 100129936 100129936 61 WT diagnosis snv PCDHGB2 missense T350S NM_018923 50-PAJNJJ PCDHGA3|PCDHGA4|PCDHGB1|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGB2 INTRON|INTRON|INTRON|INTRON|TSS-UPSTREAM|INTRON|MISSENSE SNP Somatic 11 0.448 SQHIGH 28 23 51 2 58 60 Cosmic_Gene C C G C C TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 56112|56111|56104|56113|56110|56114|56103 5 140740751 140740751 95 WT diagnosis snv FGFR1 missense N546K NM_023110 50-PAJNJJ FGFR1 MISSENSE SNP Somatic 6 0.259 SQHIGH 21 16 37 0 37 37 Cosmic_Gene G G C G G TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 2260 8 38274849 38274849 81 WT diagnosis snv PXDNL missense R762C NM_144651 50-PAJNJJ PXDNL MISSENSE SNP Somatic -6 0.081 SQHIGH 7 25 32 0 42 42 Cosmic_Gene G G A G G TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 137902 8 52321900 52321900 27 WT diagnosis snv RABL6 missense C491S NM_024718 50-PAJNJJ RABL6 MISSENSE SNP Somatic -7 0.074 SQHIGH 6 20 26 1 51 52 T T A T T TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 55684 9 139733551 139733551 23 WT diagnosis snv ADRA2A nonsense *466W NM_000681 50-PAJNJJ ADRA2A NONSTOP SNP Somatic -1 0.124 SQHIGH 10 33 43 2 51 53 A A G A A TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 150 10 112839152 112839152 23 WT diagnosis snv C11orf42 silent L138L NM_173525 50-PAJNJJ C11orf42 SYNONYMOUS SNP Somatic 15 0.724 SQHIGH 32 28 60 0 50 50 Cosmic_Gene G G A G G TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 160298 11 6231421 6231421 107 WT diagnosis snv USP35 silent T510T NM_020798 50-PAJNJJ USP35 SYNONYMOUS SNP Somatic 12 0.502 SQHIGH 34 26 60 1 57 58 Cosmic_Gene G G A G G TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 57558 11 77919947 77919947 114 WT diagnosis snv SLITRK5 missense L815V NM_015567 50-PAJNJJ SLITRK5 MISSENSE SNP Somatic -6 0.081 SQHIGH 12 4 16 0 16 16 Cosmic_Gene C C G C C TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 26050 13 88330086 88330086 51 WT diagnosis snv CXXC1 silent T517T NM_001101654 50-PAJNJJ MBD1|CXXC1 TSS-UPSTREAM|SYNONYMOUS SNP Somatic PFAM:PF12269:zf-CpG_bind_C 2 0.166 SQHIGH 37 71 108 0 81 81 Cosmic_Gene C C T C C TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 4152|30827 18 47809920 47809920 104 WT diagnosis snv MISP missense R308L NM_173481 50-PAJNJJ C19orf21 MISSENSE SNP Somatic 8 0.322 SQHIGH 34 35 69 2 69 71 Cosmic_Gene G G T G G TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 126353 19 757869 757869 104 WT diagnosis snv ZNF681 silent K469K NM_138286 50-PAJNJJ ZNF681 SYNONYMOUS SNP Somatic -9 0.064 SQHIGH 6 21 27 0 28 28 T T C T T TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 148213 19 23926945 23926945 20 WT diagnosis snv ABCG1 splice_region R591_E14splice_region NM_016818 50-PAJNJJ ABCG1 INTRON SNP Somatic 14 0.641 SQHIGH 18 15 33 0 20 20 Cosmic_Gene C C T C C TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 9619 21 43714779 43714779 48 WT diagnosis snv CACNA1I missense V1914I NM_021096 50-PAJNJJ CACNA1I MISSENSE SNP Somatic 7 0.290 SQHIGH 24 43 67 1 81 82 Cosmic_Gene G G A G G TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 8911 22 40078576 40078576 83 WT diagnosis snv TBX22 nonsense Y220* NM_001109878 50-PAJNJJ TBX22 NONSENSE SNP Somatic PFAM:PF00907:T-box 15 0.724 SQHIGH 29 21 50 0 67 67 Cosmic_Gene C C A C C TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 50945 X 79282229 79282229 136 WT diagnosis mnv SECTM1 missense S110_H111>SL NM_003004 50-PAJNJJ SECTM1 MISSENSE Sub Somatic -1 0.572 SQHIGH 33 23 56 0 53 53 TGG TGG AGA TGG TGG TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 6398 17 80282529 80282531 124 WT diagnosis snv C1orf228 missense A121T NM_001145636 50-PAJNNC C1orf228 MISSENSE SNP Somatic -9 0.062 SQHIGH 4 20 24 0 45 45 G G A G G TARGET-50-PAJNNC-01A-01D TARGET-50-PAJNNC-11A-01D 339541 1 45163820 45163820 19 WT diagnosis snv MDN1 missense V4283E NM_014611 50-PAJNNC MDN1 MISSENSE SNP Somatic -5 0.081 SQHIGH 4 18 22 0 28 28 Cosmic_Gene A A T A A TARGET-50-PAJNNC-01A-01D TARGET-50-PAJNNC-11A-01D 23195 6 90384222 90384222 15 WT diagnosis snv AMZ1 missense R209Q NM_133463 50-PAJNNC AMZ1 MISSENSE SNP Somatic PFAM:PF07998:Peptidase_M54 7 0.234 SQHIGH 12 14 26 0 19 19 G G A G G TARGET-50-PAJNNC-01A-01D TARGET-50-PAJNNC-11A-01D 155185 7 2748733 2748733 35 WT diagnosis snv SLC46A3 missense L425P NM_181785 50-PAJNNC SLC46A3 MISSENSE SNP Somatic -7 0.071 SQHIGH 4 14 18 0 26 26 Cosmic_Gene A A G A A TARGET-50-PAJNNC-01A-01D TARGET-50-PAJNNC-11A-01D 283537 13 29278107 29278107 16 WT diagnosis snv BZRAP1 splice_region Q498_E12splice_region NM_004758 50-PAJNNC BZRAP1 INTRON SNP Somatic 4 0.168 SQHIGH 14 54 68 1 51 52 Cosmic_Gene G G A G G TARGET-50-PAJNNC-01A-01D TARGET-50-PAJNNC-11A-01D 9256 17 56397462 56397462 28 WT diagnosis snv AHCYL1 nonsense Y291* NM_006621 50-PAJNRL AHCYL1 NONSENSE SNP Somatic -3 0.095 SQHIGH 5 24 29 0 26 26 Cosmic_Gene C C A C C TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 10768 1 110559056 110559056 15 WT diagnosis snv LRRN1 missense M1V NM_020873 50-PAJNRL LRRN1 MISSTART SNP Somatic 16 0.757 SQHIGH 10 12 22 0 20 20 Cosmic_Gene A A G A A TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 57633 3 3886326 3886326 34 WT diagnosis snv ADH6 silent G216G NM_001102470 50-PAJNRL ADH6|LOC100507053 SYNONYMOUS|INTRON SNP Somatic 0 0.127 SQHIGH 13 19 32 0 36 36 Cosmic_Gene T T G T T TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 130|100507053 4 100130005 100130005 50 WT diagnosis snv FGD2 splice_region V127_E4splice_region NM_173558 50-PAJNRL FGD2 ACCEPTOR SNP Somatic 13 0.520 SQHIGH 15 22 37 0 32 32 Cosmic_Gene C C T C C TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 221472 6 36979473 36979473 48 WT diagnosis snv C1QTNF4 missense S244L NM_031909 50-PAJNRL C1QTNF4 MISSENSE SNP Somatic PFAM:PF00386:C1q 12 0.462 SQHIGH 11 19 30 0 31 31 G G A G G TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 114900 11 47611632 47611632 39 WT diagnosis snv LRIG3 missense R721G NM_001136051 50-PAJNRL LRIG3 MISSENSE SNP Somatic PFAM:PF00047:ig 3 0.173 SQHIGH 25 53 78 0 40 40 Cosmic_Gene G G C G G TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 121227 12 59271377 59271377 52 WT diagnosis snv LMO7DN missense G90S NM_001257995 50-PAJNRL LOC729420 UTR SNP Somatic 0 0.127 SQHIGH 10 24 34 0 32 32 G G A G G TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 729420 13 76448060 76448060 32 WT diagnosis snv CPNE2 silent A456A NM_152727 50-PAJNRL CPNE2 SYNONYMOUS SNP Somatic 13 0.520 SQHIGH 24 21 45 3 61 64 Cosmic_Gene C C G C C TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 221184 16 57180062 57180062 82 WT diagnosis snv NFAT5 nonsense Q54* NM_001113178 50-PAJNRL NFAT5 UTR5,NONSENSE SNP Somatic 13 0.520 SQHIGH 15 19 34 0 23 23 C C T C C TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 10725 16 69660338 69660338 41 WT diagnosis snv EVPL missense R134H NM_001988 50-PAJNRL EVPL MISSENSE SNP dbsnp.134:rs140838612 Somatic 17 0.851 SQHIGH 13 14 27 0 41 41 Cosmic_Gene C C T C C TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 2125 17 74019452 74019452 62 WT diagnosis snv ZNF383 silent E423E NM_152604 50-PAJNRL ZNF383 SYNONYMOUS SNP Somatic 15 0.684 SQHIGH 15 18 33 0 52 52 Cosmic_Gene A A G A A TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 163087 19 37734407 37734407 72 WT diagnosis mnv SIPA1L1 missense S854_S855>RA NM_015556 50-PAJNRL SIPA1L1 MISSENSE Sub Somatic -2 0.491 SQHIGH 6 24 30 0 35 35 Cosmic_Gene CAG CAG GGC CAG CAG TARGET-50-PAJNRL-01A-01D TARGET-50-PAJNRL-11A-01D 26037 14 72138142 72138144 21 WT diagnosis snv CLCA4 silent L695L NM_012128 50-PAJNSL CLCA4 SYNONYMOUS,UTR SNP Somatic 13 0.554 SQHIGH 9 8 17 0 21 21 Cosmic_Gene C C T C C TARGET-50-PAJNSL-01A-01D TARGET-50-PAJNSL-11A-01D 22802 1 87043716 87043716 38 WT diagnosis snv PKN3 missense M148L NM_013355 50-PAJNSL PKN3 MISSENSE SNP Somatic -9 0.060 SQHIGH 5 16 21 0 22 22 Cosmic_Gene A A C A A TARGET-50-PAJNSL-01A-01D TARGET-50-PAJNSL-11A-01D 29941 9 131469022 131469022 17 WT diagnosis snv SOS2 missense I427N NM_006939 50-PAJNSL SOS2 MISSENSE SNP Somatic -3 0.098 SQHIGH 15 16 31 0 26 26 Cosmic_Gene A A T A A TARGET-50-PAJNSL-01A-01D TARGET-50-PAJNSL-11A-01D 6655 14 50626721 50626721 49 WT diagnosis snv CLCN7 silent A295A NM_001287 50-PAJNSL CLCN7 SYNONYMOUS SNP dbsnp.134:rs149183810 Somatic PFAM:PF00654:Voltage_CLC 8 0.304 SQHIGH 8 29 37 1 60 61 Cosmic_Gene G G A G G TARGET-50-PAJNSL-01A-01D TARGET-50-PAJNSL-11A-01D 1186 16 1506145 1506145 28 WT diagnosis snv SMIM22 silent T43T NM_001253790 50-PAJNSL LOC440335 UTR SNP Somatic 5 0.210 SQHIGH 8 29 37 0 39 39 C C T C C TARGET-50-PAJNSL-01A-01D TARGET-50-PAJNSL-11A-01D 440335 16 4845953 4845953 27 WT diagnosis snv MKS1 missense R411H NM_017777 50-PAJNSL MKS1 MISSENSE SNP Somatic PFAM:PF07162:B9 12 0.491 SQHIGH 33 34 67 0 70 70 Cosmic_Gene C C T C C TARGET-50-PAJNSL-01A-01D TARGET-50-PAJNSL-11A-01D 54903 17 56285296 56285296 126 WT diagnosis snv ZNF750 missense P611H NM_024702 50-PAJNSL TBCD|ZNF750 INTRON|MISSENSE SNP Somatic 6 0.242 SQHIGH 25 25 50 0 44 44 Cosmic_Gene G G T G G TARGET-50-PAJNSL-01A-01D TARGET-50-PAJNSL-11A-01D 6904|79755 17 80788358 80788358 85 WT diagnosis snv SASH1 splice_region G172_E6splice_region NM_015278 50-PAJNUS SASH1 DONOR SNP Somatic -3 0.096 SQHIGH 3 21 24 0 43 43 Cosmic_Gene T T A T T TARGET-50-PAJNUS-01A-01D TARGET-50-PAJNUS-10A-01D 23328 6 148792644 148792644 14 WT diagnosis snv CCAR2 silent L783L NM_021174 50-PAJNUS KIAA1967 SYNONYMOUS,UTR SNP Somatic 10 0.358 SQHIGH 19 24 43 0 33 33 Cosmic_Gene G G T G G TARGET-50-PAJNUS-01A-01D TARGET-50-PAJNUS-10A-01D 57805 8 22476356 22476356 57 WT diagnosis snv SSNA1 splice_region C18_E1splice_region NM_003731 50-PAJNUS ANAPC2|SSNA1 TSS-UPSTREAM|DONOR SNP Somatic -10 0.054 SQHIGH 8 24 32 1 33 34 Cosmic_Gene A A G A A TARGET-50-PAJNUS-01A-01D TARGET-50-PAJNUS-10A-01D 29882|8636 9 140083234 140083234 20 WT diagnosis snv NRP1 silent F258F NM_003873 50-PAJNUS NRP1 SYNONYMOUS SNP Somatic 7 0.261 SQHIGH 10 31 41 0 35 35 Cosmic_Gene G G A G G TARGET-50-PAJNUS-01A-01D TARGET-50-PAJNUS-10A-01D 8829 10 33545284 33545284 29 WT diagnosis snv PARD3 missense H1087Y NM_019619 50-PAJNUS PARD3 MISSENSE SNP Somatic -9 0.058 SQHIGH 14 23 37 0 31 31 Cosmic_Gene G G A G G TARGET-50-PAJNUS-01A-01D TARGET-50-PAJNUS-10A-01D 56288 10 34558754 34558754 43 WT diagnosis snv HELZ silent P1186P NM_014877 50-PAJNUS HELZ SYNONYMOUS SNP Somatic -9 0.058 SQHIGH 4 10 14 0 18 18 Cosmic_Gene A A G A A TARGET-50-PAJNUS-01A-01D TARGET-50-PAJNUS-10A-01D 9931 17 65119158 65119158 16 WT diagnosis snv ZNF185 missense G682R NM_007150 50-PAJNUS ZNF185 MISSENSE SNP Somatic PFAM:PF00412:LIM 14 0.590 SQHIGH 28 27 55 1 53 54 Cosmic_Gene G G A G G TARGET-50-PAJNUS-01A-01D TARGET-50-PAJNUS-10A-01D 7739 X 152139059 152139059 90 WT diagnosis snv AGRN missense R1656W NM_198576 50-PAJNYT AGRN MISSENSE SNP dbsnp.134:rs145111679 Somatic 12 0.473 SQHIGH 11 14 25 0 21 21 Cosmic_Gene C C T C C TARGET-50-PAJNYT-01A-02D TARGET-50-PAJNYT-11A-01D 375790 1 985699 985699 35 WT diagnosis snv GON4L missense G249S NM_001282856 50-PAJNYT GON4L MISSENSE SNP Somatic 17 0.843 SQHIGH 20 15 35 1 41 42 Cosmic_Gene C C T C C TARGET-50-PAJNYT-01A-02D TARGET-50-PAJNYT-11A-01D 54856 1 155792220 155792220 75 WT diagnosis snv WHSC1 silent L799L NM_133330 50-PAJNYT WHSC1 SYNONYMOUS SNP Somatic 10 0.379 SQHIGH 20 21 41 0 43 43 Cosmic_Gene C C T C C TARGET-50-PAJNYT-01A-02D TARGET-50-PAJNYT-11A-01D 7468 4 1956944 1956944 76 WT diagnosis snv XPO5 nonsense R440* NM_020750 50-PAJNYT XPO5 NONSENSE SNP Somatic 14 0.605 SQHIGH 16 12 28 0 30 30 Cosmic_Gene G G A G G TARGET-50-PAJNYT-01A-02D TARGET-50-PAJNYT-11A-01D 57510 6 43523696 43523696 64 WT diagnosis snv LOC388849 silent D139D NM_001243537 50-PAJNYT LOC388849 SYNONYMOUS SNP Somatic -9 0.066 SQHIGH 5 13 18 1 28 29 G G A G G TARGET-50-PAJNYT-01A-02D TARGET-50-PAJNYT-11A-01D 388849 22 20136155 20136155 16 WT diagnosis snv LTBP1 missense Q1107R NM_206943 50-PAJNZI LTBP1 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA 6 0.218 SQHIGH 18 22 40 0 20 20 Cosmic_Gene A A G A A TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 4052 2 33525602 33525602 39 WT diagnosis snv LCT silent A1482A NM_002299 50-PAJNZI LCT SYNONYMOUS SNP dbsnp.134:rs148768579 Somatic PFAM:PF00232:Glyco_hydro_1 13 0.483 SQHIGH 16 0 16 0 22 22 Cosmic_Gene G A A G G TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 3938 2 136562355 136562355 103 WT diagnosis snv ACPP missense F401C NM_001134194 50-PAJNZI ACPP MISSENSE SNP Somatic 19 0.936 SQHIGH 25 14 39 0 31 31 Cosmic_Gene T T G T T TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 55 3 132086611 132086611 86 WT diagnosis snv EPHA1 missense A184T NM_005232 50-PAJNZI EPHA1 MISSENSE SNP Somatic 18 0.875 SQHIGH 11 13 24 0 53 53 Cosmic_Gene C C T C C TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 2041 7 143097029 143097029 64 WT diagnosis snv H2AFY2 splice_region S160_E5splice_region NM_018649 50-PAJNZI H2AFY2 ACCEPTOR SNP Somatic 5 0.195 SQHIGH 13 36 49 1 34 35 Cosmic_Gene C C T C C TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 55506 10 71853485 71853485 25 WT diagnosis snv LZTS2 silent P316P NM_032429 50-PAJNZI LZTS2 SYNONYMOUS SNP Somatic -10 0.057 SQHIGH 7 27 34 0 20 20 Cosmic_Gene T T C T T TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 84445 10 102763803 102763803 15 WT diagnosis snv KMT2D missense I1336V NM_003482 50-PAJNZI KMT2D MISSENSE SNP Somatic 14 0.557 SQHIGH 35 38 73 0 53 53 Cosmic_Gene T T C T T TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 8085 12 49442902 49442902 103 WT diagnosis snv TP53 missense R175H NM_000546 50-PAJNZI TP53 MISSENSE SNP dbsnp.125:rs28934578 Somatic 15 0.646 SQHIGH 23 0 23 0 29 29 COSMIC:mut:99022,COSMIC:mut:99914,COSMIC:mut:99023,COSMIC:mut:10648,COSMIC:mut:99024 Cosmic_Gene C T T C C TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 7157 17 7578406 7578406 145 WT diagnosis snv DGCR6 missense R147G NM_005675 50-PAJNZI DGCR6 MISSENSE SNP Somatic PFAM:PF07324:DGCR6 18 0.875 SQHIGH 23 17 40 1 39 40 Cosmic_Gene C C G C C TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 8214 22 18898467 18898467 77 WT diagnosis snv NYAP1 silent A691A NM_173564 50-PAJNZK NYAP1 SYNONYMOUS SNP Somatic -4 0.094 SQHIGH 8 43 51 2 77 79 Cosmic_Gene C C A C C TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 222950 7 100088267 100088267 21 WT diagnosis snv JRK missense E448V NM_003724 50-PAJNZK JRK MISSENSE SNP Somatic -9 0.063 SQHIGH 6 22 28 0 33 33 T T A T T TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 8629 8 143746135 143746135 22 WT diagnosis snv FADS1 missense T41P NM_013402 50-PAJNZK FADS1|MIR1908 MISSENSE|TSS-UPSTREAM SNP Somatic -2 0.112 SQHIGH 4 14 18 0 29 29 Cosmic_Gene T T G T T TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 3992|100302263 11 61584281 61584281 18 WT diagnosis snv KRT5 missense R10Q NM_000424 50-PAJNZK KRT5 MISSENSE SNP Somatic 14 0.636 SQHIGH 66 23 89 3 95 98 C C T C C TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 3852 12 52914052 52914052 260 WT diagnosis snv TMEM253 splice E1_splice NM_001146683 50-PAJNZK ZNF219|C14orf176 INTRON,TSS-UPSTREAM|DISRUPT SNP Somatic 9 0.367 SQHIGH 11 15 26 1 25 26 Cosmic_Gene G G T G G TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 51222|643382 14 21567358 21567358 30 WT diagnosis snv PPL missense E411D NM_002705 50-PAJNZK PPL MISSENSE SNP Somatic 10 0.406 SQHIGH 15 25 40 0 89 89 Cosmic_Gene C C G C C TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 5493 16 4945271 4945271 86 WT diagnosis snv IL17RA silent A645A NM_014339 50-PAJNZK IL17RA SYNONYMOUS SNP Somatic 6 0.269 SQHIGH 6 25 31 2 51 53 Cosmic_Gene A A T A A TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 23765 22 17590044 17590044 16 WT diagnosis mnv ZFYVE1 missense V669_D671>VPN NM_021260 50-PAJNZK ZFYVE1 MISSENSE Sub Somatic -9 0.300 SQHIGH 8 60 68 1 102 103 Cosmic_Gene CGTCC CGTCC TCGGT CGTCC CGTCC TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 53349 14 73440878 73440882 25 WT diagnosis complex TSHZ3 frameshift I708fs NM_020856 50-PAJNZK TSHZ3 FRAMESHIFT Sub Somatic -8 0.315 SQHIGH 11 48 59 5 101 106 Cosmic_Gene GA GA GGG GA GA TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 57616 19 31768575 31768576 23 WT diagnosis snv TNFRSF25 silent P31P NM_148965 50-PAJNZS TNFRSF25 SYNONYMOUS SNP Somatic 19 0.949 SQHIGH 13 16 29 1 49 50 Cosmic_Gene G G C G G TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 8718 1 6525567 6525567 56 WT diagnosis snv LRRIQ3 missense R402Q NM_001105659 50-PAJNZS LRRIQ3 MISSENSE SNP Somatic 10 0.350 SQHIGH 7 16 23 0 30 30 Cosmic_Gene C C T C C TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 127255 1 74507410 74507410 28 WT diagnosis snv SLC41A1 silent A141A NM_173854 50-PAJNZS SLC41A1 SYNONYMOUS SNP Somatic PFAM:PF01769:MgtE 5 0.211 SQHIGH 15 38 53 1 34 35 Cosmic_Gene C C T C C TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 254428 1 205770138 205770138 28 WT diagnosis snv MYCN missense P44L NM_005378 50-PAJNZS MYCNOS|MYCN TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01056:Myc_N -12 0.051 8 58 66 0 42 42 COSMIC:mut:35624 Cosmic_Gene C C T C C TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 10408|4613 2 16082317 16082317 18 WT diagnosis snv HOXD10 silent F3F NM_002148 50-PAJNZS HOXD10 SYNONYMOUS SNP Somatic 4 0.194 SQHIGH 6 37 43 0 39 39 Cosmic_Gene T T C T T TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 3236 2 176981570 176981570 18 WT diagnosis snv KCTD16 missense C315Y NM_020768 50-PAJNZS KCTD16 MISSENSE SNP Somatic 5 0.211 SQHIGH 8 19 27 0 35 35 Cosmic_Gene G G A G G TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 57528 5 143853334 143853334 32 WT diagnosis snv GRM6 missense M433K NM_000843 50-PAJNZS GRM6 MISSENSE SNP Somatic PFAM:PF01094:ANF_receptor PFAM:PF02608:Bmp 7 0.259 SQHIGH 8 13 21 0 25 25 Cosmic_Gene A A T A A TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 2916 5 178415992 178415992 31 WT diagnosis snv KCNK5 missense Y232S NM_003740 50-PAJNZS KCNK5 MISSENSE SNP Somatic PFAM:PF07885:Ion_trans_2 -9 0.064 SQHIGH 7 46 53 0 67 67 Cosmic_Gene T T G T T TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 8645 6 39159471 39159471 26 WT diagnosis snv TXLNB nonsense R330* NM_153235 50-PAJNZS TXLNB NONSENSE SNP Somatic PFAM:PF09728:Taxilin 15 0.638 SQHIGH 11 28 39 0 27 27 Cosmic_Gene G G A G G TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 167838 6 139581469 139581469 28 WT diagnosis snv MUC17 missense T99I NM_001040105 50-PAJNZS MUC17 MISSENSE SNP dbsnp.134:rs146605853 Somatic 8 0.285 SQHIGH 14 33 47 0 47 47 Cosmic_Gene C C T C C TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 140453 7 100674993 100674993 47 WT diagnosis snv DOCK8 silent F1505F NM_203447 50-PAJNZS DOCK8 SYNONYMOUS SNP Somatic 17 0.820 SQHIGH 14 19 33 0 52 52 Cosmic_Gene C C T C C TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 81704 9 429743 429743 67 WT diagnosis snv PDE2A missense L802V NM_002599 50-PAJNZS PDE2A MISSENSE,UTR SNP Somatic PFAM:PF00233:PDEase_I 7 0.259 SQHIGH 18 32 50 0 61 61 Cosmic_Gene G G C G G TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 5138 11 72290006 72290006 71 WT diagnosis snv DPEP3 silent S412S NM_022357 50-PAJNZS DPEP3 SYNONYMOUS SNP Somatic -3 0.104 SQHIGH 4 24 28 0 43 43 Cosmic_Gene G G A G G TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 64180 16 68010065 68010065 17 WT diagnosis snv TP53 missense R158P NM_000546 50-PAJNZS TP53 MISSENSE SNP Somatic 11 0.388 SQHIGH 10 17 27 1 42 43 Cosmic_Gene C C G C C TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 7157 17 7578457 7578457 38 WT diagnosis snv CBLC missense P155A NM_012116 50-PAJNZS CBLC MISSENSE SNP Somatic PFAM:PF02761:Cbl_N2 7 0.259 SQHIGH 15 33 48 0 50 50 Cosmic_Gene C C G C C TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 23624 19 45284271 45284271 52 WT diagnosis snv DGCR8 missense E518K NM_022720 50-PAJNZS DGCR8 MISSENSE SNP Somatic PFAM:PF00035:dsrm 19 0.949 SQHIGH 24 1 25 0 67 67 G A A G G TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 54487 22 20079439 20079439 205 WT diagnosis snv MIEF1 missense R348C NM_019008 50-PAJNZS SMCR7L MISSENSE SNP dbsnp.134:rs140177103 Somatic PFAM:PF03281:Mab-21 -2 0.114 SQHIGH 5 22 27 0 48 48 Cosmic_Gene C C T C C TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 54471 22 39909978 39909978 23 WT diagnosis snv WAS silent R328R NM_000377 50-PAJNZS WAS SYNONYMOUS SNP Somatic 7 0.259 SQHIGH 15 20 35 0 28 28 Cosmic_Gene G G T G G TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 7454 X 48547101 48547101 46 WT diagnosis snv CACNA1F missense R998W NM_005183 50-PAJNZS CACNA1F MISSENSE SNP Somatic PFAM:PF00520:Ion_trans 6 0.235 SQHIGH 18 43 61 0 76 76 Cosmic_Gene G G A G G TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 778 X 49074434 49074434 70 WT diagnosis snv FOXR2 missense P96A NM_198451 50-PAJNZS FOXR2 MISSENSE SNP Somatic 0 0.136 SQHIGH 6 21 27 0 41 41 Cosmic_Gene C C G C C TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 139628 X 55650430 55650430 26 WT diagnosis snv FGFR3 silent R93R NM_000142 50-PAJNZU FGFR3 SYNONYMOUS SNP Somatic PFAM:PF00047:ig -9 0.058 SQHIGH 4 20 24 0 36 36 Cosmic_Gene C C A C C TARGET-50-PAJNZU-01A-01D TARGET-50-PAJNZU-11A-01D 2261 4 1801148 1801148 17 WT diagnosis snv DIP2C missense Q1025E NM_014974 50-PAJNZU DIP2C MISSENSE SNP Somatic PFAM:PF00501:AMP-binding 13 0.504 SQHIGH 35 24 59 0 52 52 Cosmic_Gene G G C G G TARGET-50-PAJNZU-01A-01D TARGET-50-PAJNZU-11A-01D 22982 10 395307 395307 126 WT diagnosis snv PNN silent S622S NM_002687 50-PAJNZU PNN SYNONYMOUS SNP Somatic 2 0.146 SQHIGH 5 17 22 0 24 24 Cosmic_Gene C C T C C TARGET-50-PAJNZU-01A-01D TARGET-50-PAJNZU-11A-01D 5411 14 39650779 39650779 17 WT diagnosis snv GGT6 silent A332A NM_001122890 50-PAJNZU GGT6|MYBBP1A SYNONYMOUS|TSS-UPSTREAM SNP Somatic -8 0.062 SQHIGH 8 36 44 1 47 48 Cosmic_Gene C C G C C TARGET-50-PAJNZU-01A-01D TARGET-50-PAJNZU-11A-01D 124975|10514 17 4461796 4461796 20 WT diagnosis snv DRP2 silent T879T NM_001939 50-PAJNZU DRP2 SYNONYMOUS SNP Somatic 13 0.504 SQHIGH 27 31 58 0 68 68 Cosmic_Gene C C T C C TARGET-50-PAJNZU-01A-01D TARGET-50-PAJNZU-11A-01D 1821 X 100515046 100515046 109 WT diagnosis mnv ACRC missense D296_D297>FN NM_052957 50-PAJNZU ACRC MISSENSE Sub Somatic -6 0.351 SQHIGH 8 18 26 1 29 30 Cosmic_Gene GACG GACG TTCA GACG GACG TARGET-50-PAJNZU-01A-01D TARGET-50-PAJNZU-11A-01D 93953 X 70824013 70824016 22 WT diagnosis snv OR2G2 missense R125H NM_001001915 50-PAJPAR OR2G2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 5 0.233 SQHIGH 20 27 47 0 43 43 G G A G G TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 81470 1 247752035 247752035 67 WT diagnosis snv UGT1A3 silent G15G NM_019093 50-PAJPAR UGT1A4|UGT1A9|UGT1A10|UGT1A6|UGT1A8|UGT1A7|UGT1A5|UGT1A3 INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|SYNONYMOUS SNP Somatic -10 0.068 SQHIGH 3 8 11 0 22 22 Cosmic_Gene A A C A A TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 54657|54600|54575|54578|54576|54577|54579|54659 2 234637817 234637817 15 WT diagnosis snv SNX24 nonsense R103* NM_014035 50-PAJPAR SNX24 NONSENSE SNP Somatic 9 0.356 SQHIGH 22 12 34 1 46 47 C C T C C TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 28966 5 122335664 122335664 96 WT diagnosis snv AGER missense R57W NM_001136 50-PAJPAR AGER INTRON,MISSENSE,UTR SNP Somatic PFAM:PF00047:ig 11 0.436 SQHIGH 37 37 74 0 72 72 Cosmic_Gene G G A G G TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 177 6 32151518 32151518 135 WT diagnosis snv CSGALNACT1 silent Y396Y NM_001130518 50-PAJPAR CSGALNACT1 SYNONYMOUS,UTR SNP Somatic PFAM:PF01644:Chitin_synth_1 8 0.322 SQHIGH 20 20 40 0 46 46 Cosmic_Gene G G A G G TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 55790 8 19276206 19276206 81 WT diagnosis snv TRIM34 missense C333Y NM_021616 50-PAJPAR TRIM78P|TRIM34|TRIM6-TRIM34 UTR|MISSENSE|MISSENSE SNP Somatic -2 0.125 SQHIGH 6 20 26 0 30 30 Cosmic_Gene G G A G G TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 117852|53840|445372 11 5664470 5664470 21 WT diagnosis snv TRIP11 missense A1327P NM_004239 50-PAJPAR TRIP11 MISSENSE SNP Somatic -6 0.092 SQHIGH 4 24 28 0 51 51 Cosmic_Gene C C G C C TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 9321 14 92470341 92470341 19 WT diagnosis snv TP53 missense G266E NM_000546 50-PAJPAR TP53 MISSENSE SNP Somatic 20 1.000 SQHIGH 33 4 37 0 63 63 COSMIC:mut:10867 Cosmic_Gene C C T C C TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 7157 17 7577141 7577141 216 WT diagnosis snv COL6A2 nonsense *829R NM_058175 50-PAJPAR COL6A2 INTRON,NONSTOP SNP Somatic 13 0.543 SQHIGH 41 11 52 1 89 90 Cosmic_Gene T T C T T TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 1292 21 47548840 47548840 236 WT diagnosis snv FCRL3 silent S199S NM_052939 50-PAJPAU FCRL3 SYNONYMOUS SNP Somatic 6 0.247 SQHIGH 21 68 89 1 43 44 Cosmic_Gene G G A G G TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 115352 1 157667177 157667177 31 WT diagnosis snv SIX2 missense Q177R NM_016932 50-PAJPAU SIX2 MISSENSE SNP Somatic 12 0.457 SQHIGH 17 3 20 0 25 25 Cosmic_Gene T T C T T TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 10736 2 45235720 45235720 90 WT diagnosis snv MYO7B silent P107P NM_001080527 50-PAJPAU MYO7B SYNONYMOUS SNP Somatic PFAM:PF00225:Kinesin 7 0.280 SQHIGH 32 2 34 0 30 30 Cosmic_Gene G A A G G TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 4648 2 128324253 128324253 155 WT diagnosis snv ARHGEF28 missense L819P NM_001080479 50-PAJPAU ARHGEF28 MISSENSE SNP Somatic -1 0.120 SQHIGH 4 14 18 0 19 19 T T C T T TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 64283 5 73165924 73165924 13 WT diagnosis snv P2RY6 missense P225L NM_001277204 50-PAJPAU P2RY6 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -2 0.108 SQHIGH 7 14 21 0 29 29 Cosmic_Gene C C T C C TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 5031 11 73008237 73008237 29 WT diagnosis snv ESRRB silent D296D NM_004452 50-PAJPAU ESRRB SYNONYMOUS SNP dbsnp.134:rs139812473 Somatic 18 0.882 SQHIGH 16 21 39 0 31 31 Cosmic_Gene C C T C C TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 2103 14 76957890 76957890 51 WT diagnosis snv HERC1 missense E2024K NM_003922 50-PAJPAU HERC1 MISSENSE SNP Somatic -8 0.066 SQHIGH 4 17 21 0 32 32 Cosmic_Gene C C T C C TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 8925 15 63978713 63978713 17 WT diagnosis snv AURKC missense E80K NM_001015878 50-PAJPAU AURKC MISSENSE SNP Somatic 15 0.650 SQHIGH 26 20 46 0 65 65 Cosmic_Gene G G A G G TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 6795 19 57743534 57743534 124 WT diagnosis mnv TFRC missense P107E NM_003234 50-PAJPAU TFRC MISSENSE Sub Somatic -10 0.282 SQHIGH 9 28 37 0 42 42 Cosmic_Gene GG GG TC GG GG TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 7037 3 195800915 195800916 32 WT diagnosis snv STK36 missense S1058F NM_015690 50-PAJPEW STK36 MISSENSE SNP Somatic 2 0.147 SQHIGH 42 62 104 0 108 108 Cosmic_Gene C C T C C TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 27148 2 219563440 219563440 153 WT diagnosis snv NPY5R missense E200D NM_006174 50-PAJPEW NPY5R MISSENSE SNP Somatic 4 0.178 SQHIGH 5 29 34 0 32 32 Cosmic_Gene G G T G G TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 4889 4 164272025 164272025 15 WT diagnosis snv TFAP2B silent P67P NM_003221 50-PAJPEW TFAP2B SYNONYMOUS SNP Somatic 2 0.147 SQHIGH 5 33 38 0 33 33 G G C G G TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 7021 6 50791239 50791239 14 WT diagnosis snv LAMA2 nonsense R1350* NM_000426 50-PAJPEW LAMA2 NONSENSE SNP Somatic PFAM:PF00052:Laminin_B 10 0.354 SQHIGH 21 20 41 1 44 45 Cosmic_Gene C C T C C TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 3908 6 129637306 129637306 71 WT diagnosis snv EZH2 splice_region E644_E16splice_region NM_001203247 50-PAJPEW EZH2 DONOR SNP Somatic 20 0.988 SQHIGH 29 3 32 0 59 59 Cosmic_Gene T T A T T TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 2146 7 148508714 148508714 200 WT diagnosis snv ADAMDEC1 missense K134N NM_014479 50-PAJPEW ADAMDEC1 MISSENSE SNP Somatic PFAM:PF01562:Pep_M12B_propep 1 0.133 SQHIGH 18 30 48 0 37 37 Cosmic_Gene G G T G G TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 27299 8 24253271 24253271 52 WT diagnosis snv ECD missense E157Q NM_007265 50-PAJPEW ECD MISSENSE,UTR SNP dbsnp.134:rs141141485 Somatic PFAM:PF07093:SGT1 21 1.000 SQHIGH 18 18 36 0 42 42 Cosmic_Gene C C G C C TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 11319 10 74916154 74916154 74 WT diagnosis snv PELI3 missense W303G NM_145065 50-PAJPEW DPP3|PELI3 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF04710:Pellino -9 0.058 SQHIGH 5 17 22 0 21 21 Cosmic_Gene T T G T T TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 10072|246330 11 66243135 66243135 16 WT diagnosis snv MARK4 missense D233Y NM_031417 50-PAJPEW MARK4 MISSENSE SNP Somatic PFAM:PF03109:ABC1 9 0.315 SQHIGH 26 29 55 1 50 51 Cosmic_Gene G G T G G TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 57787 19 45774877 45774877 78 WT diagnosis snv ZNF8 missense E426G NM_021089 50-PAJPEW ZNF8 MISSENSE SNP Somatic -9 0.058 SQHIGH 11 66 77 2 63 65 Cosmic_Gene A A G A A TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 7554 19 58806451 58806451 17 WT diagnosis snv CELSR1 missense G1354S NM_014246 50-PAJPEW CELSR1 MISSENSE SNP Somatic 11 0.398 SQHIGH 12 8 20 0 20 20 Cosmic_Gene C C T C C TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 9620 22 46859727 46859727 46 WT diagnosis snv AMER1 nonsense K357* NM_152424 50-PAJPEW FAM123B NONSENSE SNP Somatic PFAM:PF09422:WTX 17 0.863 SQHIGH 44 0 44 0 30 30 Cosmic_Gene T A T TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 139285 X 63412098 63412098 207 WT diagnosis snv AMER1 missense S45Y NM_152424 50-PAJPEW FAM123B MISSENSE SNP Somatic 21 1.000 SQHIGH 34 1 35 0 32 32 Cosmic_Gene G T G TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 139285 X 63413033 63413033 176 WT diagnosis mnv RDH16 missense P206G NM_003708 50-PAJPEW RDH16 MISSENSE Sub Somatic -6 0.349 SQHIGH 10 42 52 2 44 46 GG GG CC GG GG TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 8608 12 57346730 57346731 16 WT diagnosis mnv C20orf203 missense K181I NM_182584 50-PAJPEW C20orf203 MISSENSE Sub Somatic 0 0.618 SQHIGH 6 25 31 0 40 40 CT CT GA CT CT TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 284805 20 31238276 31238277 23 WT diagnosis snv AGO1 missense H322Y NM_012199 50-PAJPGY AGO1 MISSENSE SNP Somatic 5 0.235 SQHIGH 27 18 45 0 47 47 Cosmic_Gene C C T C C TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 26523 1 36360814 36360814 109 WT diagnosis snv USP19 silent A589A NM_006677 50-PAJPGY USP19 SYNONYMOUS SNP Somatic 2 0.171 SQHIGH 4 27 31 0 48 48 Cosmic_Gene G G T G G TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 10869 3 49152497 49152497 17 WT diagnosis snv TRIM42 missense E130V NM_152616 50-PAJPGY TRIM42 MISSENSE SNP Somatic -2 0.113 SQHIGH 7 28 35 0 64 64 Cosmic_Gene A A T A A TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 287015 3 140401351 140401351 33 WT diagnosis snv NDUFS6 missense A86T NM_004553 50-PAJPGY NDUFS6 MISSENSE SNP Somatic PFAM:PF10276:zf-CHCC 18 0.892 SQHIGH 16 19 35 0 34 34 Cosmic_Gene G G A G G TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 4726 5 1814522 1814522 57 WT diagnosis snv HLA-DQB2 missense E86K NM_001198858 50-PAJPGY HLA-DQB2 MISSENSE SNP Somatic PFAM:PF00969:MHC_II_beta 8 0.333 SQHIGH 19 29 48 0 23 23 C C T C C TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 3120 6 32729545 32729545 39 WT diagnosis snv APOBEC2 missense R134C NM_006789 50-PAJPGY APOBEC2 MISSENSE SNP Somatic PFAM:PF08211:dCMP_cyt_deam_2 -1 0.125 SQHIGH 9 60 69 0 57 57 C C T C C TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 10930 6 41029335 41029335 25 WT diagnosis snv MEI4 missense F355L NM_001282136 50-PAJPGY SNP Somatic -3 0.102 SQHIGH 5 44 49 0 40 40 C C G C C TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 6 78632970 78632970 13 WT diagnosis snv SNX33 missense S480Y NM_153271 50-PAJPGY SNX33 MISSENSE SNP Somatic -8 0.065 SQHIGH 5 35 40 0 45 45 Cosmic_Gene C C A C C TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 257364 15 75942882 75942882 17 WT diagnosis snv SNX33 missense N481I NM_153271 50-PAJPGY SNX33 MISSENSE SNP Somatic -8 0.065 SQHIGH 5 35 40 0 49 49 Cosmic_Gene A A T A A TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 257364 15 75942885 75942885 18 WT diagnosis snv SHPK silent P415P NM_013276 50-PAJPGY SHPK|TRPV1 SYNONYMOUS|TSS-UPSTREAM SNP Somatic 11 0.441 SQHIGH 13 7 20 1 34 35 Cosmic_Gene C C T C C TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 23729|7442 17 3514046 3514046 62 WT diagnosis snv ZNF77 nonsense S54* NM_021217 50-PAJPGY ZNF77 NONSENSE SNP Somatic 11 0.441 SQHIGH 21 20 41 0 43 43 Cosmic_Gene G G T G G TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 58492 19 2936672 2936672 81 WT diagnosis snv CC2D1A silent P329P NM_017721 50-PAJPGY CC2D1A SYNONYMOUS SNP Somatic -4 0.093 SQHIGH 5 32 37 0 47 47 T T C T T TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 54862 19 14029599 14029599 19 WT diagnosis snv CASS4 missense V255I NM_001164116 50-PAJPGY CASS4 INTRON,MISSENSE SNP dbsnp.130:rs73159591 Somatic 10 0.402 SQHIGH 25 34 59 0 50 50 Cosmic_Gene G G A G G TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 57091 20 55026995 55026995 80 WT diagnosis snv MYH9 silent R930R NM_002473 50-PAJPGY MYH9 SYNONYMOUS SNP Somatic -3 0.102 SQHIGH 4 21 25 0 44 44 Cosmic_Gene G G C G G TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 4627 22 36696945 36696945 18 WT diagnosis snv SLFNL1-AS1 EXON E4_exon NM_144990 50-PAJPHA LOC100507178|SLFNL1 UTR|INTRON SNP Somatic 12 0.487 SQHIGH 39 38 77 1 85 86 Cosmic_Gene G G T G G TARGET-50-PAJPHA-01A-01D TARGET-50-PAJPHA-11A-01D 100507178|200172 1 41482171 41482171 142 WT diagnosis snv RPRD2 missense T604A NM_015203 50-PAJPHA RPRD2 MISSENSE SNP Somatic 5 0.223 SQHIGH 18 68 86 0 50 50 Cosmic_Gene A A G A A TARGET-50-PAJPHA-01A-01D TARGET-50-PAJPHA-11A-01D 23248 1 150443234 150443234 39 WT diagnosis snv USP34 nonsense E573* NM_014709 50-PAJPHA USP34 NONSENSE SNP Somatic -5 0.082 SQHIGH 6 37 43 1 50 51 Cosmic_Gene C C A C C TARGET-50-PAJPHA-01A-01D TARGET-50-PAJPHA-11A-01D 9736 2 61575573 61575573 15 WT diagnosis snv PCDHA7 missense R47P NM_018910 50-PAJPHA PCDHA4|PCDHA1|PCDHA5|PCDHA6|PCDHA7|PCDHA3|PCDHA2 INTRON|INTRON|INTRON|INTRON|MISSENSE|INTRON|INTRON SNP Somatic -35 0.003 6 29 35 0 30 30 Cosmic_Gene G G C G G TARGET-50-PAJPHA-01A-01D TARGET-50-PAJPHA-11A-01D 56144|56147|56143|56142|56141|56145|56146 5 140214108 140214108 17 WT diagnosis snv VWCE missense T464S NM_152718 50-PAJPHA VWCE MISSENSE SNP Somatic 13 0.540 SQHIGH 17 32 49 0 62 62 Cosmic_Gene G G C G G TARGET-50-PAJPHA-01A-01D TARGET-50-PAJPHA-11A-01D 220001 11 61045882 61045882 68 WT diagnosis snv SGCA missense D234N NM_000023 50-PAJPHA SGCA INTRON,MISSENSE SNP Somatic PFAM:PF05510:Sarcoglycan_2 10 0.393 SQHIGH 26 33 59 1 70 71 Cosmic_Gene G G A G G TARGET-50-PAJPHA-01A-01D TARGET-50-PAJPHA-11A-01D 6442 17 48246568 48246568 93 WT diagnosis snv MRC2 missense V568L NM_006039 50-PAJPHA MRC2 MISSENSE SNP Somatic -8 0.065 SQHIGH 9 39 48 1 32 33 Cosmic_Gene G G C G G TARGET-50-PAJPHA-01A-01D TARGET-50-PAJPHA-11A-01D 9902 17 60753760 60753760 15 WT diagnosis snv ANO8 missense R1037W NM_020959 50-PAJPHA ANO8 MISSENSE SNP Somatic 17 0.870 SQHIGH 19 16 35 0 54 54 Cosmic_Gene G G A G G TARGET-50-PAJPHA-01A-01D TARGET-50-PAJPHA-11A-01D 57719 19 17435748 17435748 94 WT diagnosis snv HNRNPUL1 silent P776P NM_007040 50-PAJPHA HNRNPUL1|CCDC97 SYNONYMOUS|TSS-UPSTREAM SNP Somatic -10 0.056 SQHIGH 9 32 41 0 58 58 Cosmic_Gene T T C T T TARGET-50-PAJPHA-01A-01D TARGET-50-PAJPHA-11A-01D 11100|90324 19 41811646 41811646 37 WT diagnosis snv CACHD1 splice Q36_E2splice NM_020925 50-PAKFME CACHD1 DISRUPT SNP Somatic 14 0.601 SQHIGH 8 2 10 0 23 23 Cosmic_Gene G G C G G TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 57685 1 65016340 65016340 55 WT diagnosis snv EGFLAM missense K303N NM_152403 50-PAKFME EGFLAM-AS2|EGFLAM TSS-UPSTREAM|MISSENSE SNP Somatic 19 0.957 SQHIGH 16 15 31 1 42 43 Cosmic_Gene G G C G G TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 100506475|133584 5 38407010 38407010 62 WT diagnosis snv NDUFS3 missense R199Q NM_004551 50-PAKFME FAM180B|KBTBD4|NDUFS3 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00329:Complex1_30kDa 15 0.679 SQHIGH 44 35 79 0 58 58 Cosmic_Gene G G A G G TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 399888|55709|4722 11 47603989 47603989 137 WT diagnosis snv HOXC4 missense Q95P NM_014620 50-PAKFME FLJ12825|HOXC4 TSS-UPSTREAM|MISSENSE SNP Somatic -6 0.077 SQHIGH 8 32 40 0 29 29 Cosmic_Gene A A C A A TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 440101|3221 12 54447990 54447990 20 WT diagnosis snv THTPA silent G100G NM_024328 50-PAKFME THTPA SYNONYMOUS,INTRON SNP Somatic 7 0.269 SQHIGH 9 22 31 1 24 25 C C G C C TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 79178 14 24026266 24026266 18 WT diagnosis snv ALDH1A2 splice W186_E6splice NM_003888 50-PAKFME ALDH1A2 ACCEPTOR SNP Somatic 5 0.212 SQHIGH 6 25 31 0 38 38 Cosmic_Gene G G C G G TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 8854 15 58285274 58285274 22 WT diagnosis snv SLC38A8 silent A235A NM_001080442 50-PAKFME SLC38A8 SYNONYMOUS SNP Somatic PFAM:PF01490:Aa_trans 13 0.524 SQHIGH 11 1 12 0 34 34 G C C G G TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 146167 16 84056480 84056480 90 WT diagnosis snv HILS1 EXON E8_exon NM_000023 50-PAKFME SGCA|HILS1 INTRON|UTR SNP Somatic 3 0.175 SQHIGH 10 32 42 0 23 23 Cosmic_Gene G G A G G TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 6442|373861 17 48249022 48249022 21 WT diagnosis snv FAM122C missense D46V NM_001170779 50-PAKFME FAM122C MISSENSE SNP Somatic 17 0.849 SQHIGH 12 22 34 0 38 38 A A T A A TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 159091 X 133948827 133948827 44 WT diagnosis snv CXorf66 missense G349V NM_001013403 50-PAKFME CXorf66 MISSENSE SNP Somatic 18 0.899 SQHIGH 13 11 24 0 31 31 C C A C C TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 347487 X 139038095 139038095 58 WT diagnosis snv FARSB silent L459L NM_005687 50-PAKGED FARSB SYNONYMOUS SNP Somatic 2 0.176 SQHIGH 12 17 29 1 25 26 Cosmic_Gene C C T C C TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 10056 2 223478615 223478615 30 WT diagnosis snv MAD1L1 missense A155S NM_003550 50-PAKGED MAD1L1 MISSENSE SNP Somatic PFAM:PF05557:MAD 1 0.160 SQHIGH 5 16 21 0 19 19 Cosmic_Gene C C A C C TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 8379 7 2262218 2262218 15 WT diagnosis snv MRE11A missense D517E NM_005591 50-PAKGED MRE11A MISSENSE SNP Somatic 8 0.321 SQHIGH 5 13 18 0 25 25 Cosmic_Gene A A T A A TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 4361 11 94189454 94189454 21 WT diagnosis snv DYNC1H1 silent I3208I NM_001376 50-PAKGED DYNC1H1 SYNONYMOUS SNP Somatic PFAM:PF12777:MT -9 0.069 SQHIGH 12 97 109 0 41 41 Cosmic_Gene C C T C C TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 1778 14 102496031 102496031 17 WT diagnosis snv DYNC1H1 silent I3260I NM_001376 50-PAKGED DYNC1H1 SYNONYMOUS SNP Somatic PFAM:PF12777:MT 1 0.160 SQHIGH 24 113 137 0 47 47 Cosmic_Gene C C T C C TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 1778 14 102496516 102496516 33 WT diagnosis snv CAPN15 missense L826P NM_005632 50-PAKGED CAPN15 MISSENSE SNP Somatic 18 0.899 SQHIGH 14 15 29 0 26 26 Cosmic_Gene T T C T T TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 6650 16 602182 602182 47 WT diagnosis snv TRPV3 missense R73W NM_145068 50-PAKGED TRPV3 MISSENSE SNP dbsnp.134:rs142677176 Somatic 17 0.853 SQHIGH 9 16 25 0 39 39 Cosmic_Gene G G A G G TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 162514 17 3448468 3448468 41 WT diagnosis snv TP53 missense V173G NM_000546 50-PAKGED TP53 MISSENSE SNP Somatic 15 0.691 SQHIGH 28 0 28 1 47 48 COSMIC:mut:43054 Cosmic_Gene A C C A A TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 7157 17 7578412 7578412 192 WT diagnosis snv UNC13D missense R286Q NM_199242 50-PAKGED UNC13D MISSENSE SNP dbsnp.134:rs139155193 Somatic 9 0.355 SQHIGH 12 30 42 0 47 47 Cosmic_Gene C C T C C TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 201294 17 73836307 73836307 43 WT diagnosis snv ZNF615 missense M607L NM_198480 50-PAKGED ZNF615 MISSENSE SNP Somatic 15 0.691 SQHIGH 28 30 58 0 64 64 Cosmic_Gene T T A T T TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 284370 19 52496510 52496510 110 WT diagnosis snv GP6 missense P5L NM_001083899 50-PAKGED GP6 MISSENSE SNP Somatic -1 0.133 SQHIGH 34 26 60 0 44 44 Cosmic_Gene G G A G G TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 51206 19 55549591 55549591 106 WT diagnosis snv GDPD2 missense N69S NM_001171192 50-PAKGED GDPD2 INTRON,UTR5,MISSENSE SNP Somatic 0 0.146 SQHIGH 12 54 66 0 52 52 Cosmic_Gene A A G A A TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 54857 X 69645304 69645304 32 WT diagnosis snv OPN1LW missense I111V NM_020061 50-PAKGED OPN1LW MISSENSE SNP dbsnp.131:rs77453588,dbsnp.86:rs1065421 Somatic PFAM:PF00001:7tm_1 -9 0.069 SQHIGH 5 76 81 0 68 68 A A G A A TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 5956 X 153416346 153416346 13 WT diagnosis snv AMOTL2 silent T45T NM_016201 50-PAKJGM AMOTL2 SYNONYMOUS SNP Somatic -10 0.048 SQHIGH 6 24 30 1 32 33 Cosmic_Gene A A T A A TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 51421 3 134090141 134090141 14 WT diagnosis snv STAG1 silent L1112L NM_005862 50-PAKJGM STAG1 SYNONYMOUS SNP Somatic 17 0.823 SQHIGH 19 20 39 0 36 36 Cosmic_Gene C C A C C TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 10274 3 136062784 136062784 66 WT diagnosis snv TLR6 missense T756M NM_006068 50-PAKJGM TLR6 MISSENSE SNP dbsnp.114:rs5743820 Somatic PFAM:PF01582:TIR 8 0.268 SQHIGH 20 24 44 0 31 31 Cosmic_Gene G G A G G TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 10333 4 38828828 38828828 57 WT diagnosis snv CPEB4 silent P63P NM_030627 50-PAKJGM CPEB4 SYNONYMOUS SNP Somatic 8 0.268 SQHIGH 10 18 28 1 22 23 T T A T T TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 80315 5 173316925 173316925 22 WT diagnosis snv HIST1H1E missense K140T NM_005321 50-PAKJGM HIST1H1E|HIST1H2BD MISSENSE|TSS-UPSTREAM SNP Somatic 1 0.124 SQHIGH 6 20 26 1 28 29 Cosmic_Gene A A C A A TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 3008|3017 6 26157037 26157037 14 WT diagnosis snv SEC63 silent S632S NM_007214 50-PAKJGM SEC63 SYNONYMOUS SNP Somatic -2 0.093 SQHIGH 6 42 48 0 54 54 Cosmic_Gene T T A T T TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 11231 6 108202392 108202392 20 WT diagnosis snv COL10A1 silent L306L NM_000493 50-PAKJGM NT5DC1|COL10A1 INTRON|SYNONYMOUS SNP Somatic 8 0.268 SQHIGH 7 25 32 2 45 47 Cosmic_Gene G G A G G TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 221294|1300 6 116442363 116442363 17 WT diagnosis snv MAP3K4 missense P639R NM_005922 50-PAKJGM MAP3K4 MISSENSE SNP Somatic 6 0.214 SQHIGH 14 7 21 1 19 20 Cosmic_Gene C C G C C TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 4216 6 161491848 161491848 44 WT diagnosis snv ACTB missense R147L NM_001101 50-PAKJGM ACTB|LOC100505829 MISSENSE|INTRON SNP Somatic PFAM:PF00022:Actin 10 0.333 SQHIGH 17 31 48 0 23 23 C C A C C TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 60|100505829 7 5568274 5568274 34 WT diagnosis snv ACHE missense R448G NM_015831 50-PAKJGM UFSP1|ACHE TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00135:COesterase -9 0.051 SQHIGH 5 19 24 1 39 40 Cosmic_Gene G G C G G TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 402682|43 7 100490166 100490166 16 WT diagnosis snv CDK5 missense Y285D NM_004935 50-PAKJGM SLC4A2|CDK5 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03109:ABC1 4 0.168 SQHIGH 9 28 37 0 27 27 Cosmic_Gene A A C A A TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 6522|1020 7 150751122 150751122 23 WT diagnosis snv LOC100507530 EXON E12_exon NM_024596 50-PAKJGM MCPH1|LOC100507530 INTRON|UTR SNP Somatic -6 0.066 SQHIGH 5 42 47 0 64 64 Cosmic_Gene C C T C C TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 79648|100507530 8 6474360 6474360 19 WT diagnosis snv OR5W2 missense R261W NM_001001960 50-PAKJGM OR5W2 MISSENSE SNP Somatic PFAM:PF00001:7tm_1 -18 0.022 3 14 17 0 46 46 COSMIC:mut:72018 Cosmic_Gene G G A G G TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 390148 11 55681278 55681278 18 WT diagnosis snv CPB2 missense P113L NM_001872 50-PAKJGM LOC100509894|CPB2 INTRON|MISSENSE SNP Somatic -2 0.093 SQHIGH 9 16 25 1 19 20 Cosmic_Gene G G A G G TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 100509894|1361 13 46656622 46656622 19 WT diagnosis snv MYO16 missense A51V NM_015011 50-PAKJGM MYO16 MISSENSE SNP Somatic 1 0.124 SQHIGH 24 24 48 1 38 39 Cosmic_Gene C C T C C TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 23026 13 109318423 109318423 65 WT diagnosis snv MYO16 missense A1060S NM_015011 50-PAKJGM MYO16 MISSENSE SNP Somatic 17 0.823 SQHIGH 10 16 26 0 62 62 Cosmic_Gene G G T G G TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 23026 13 109707852 109707852 59 WT diagnosis snv CDR2 missense A355T NM_001802 50-PAKJGM CDR2 MISSENSE SNP Somatic 7 0.240 SQHIGH 26 42 68 2 41 43 Cosmic_Gene C C T C C TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 1039 16 22358588 22358588 45 WT diagnosis snv CIC silent P742P NM_015125 50-PAKJGM CIC SYNONYMOUS SNP Somatic -2 0.093 SQHIGH 6 12 18 0 14 14 Cosmic_Gene A A T A A TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 23152 19 42795146 42795146 17 WT diagnosis snv CDK5RAP1 missense K53M NM_016408 50-PAKJGM CDK5RAP1 UTR5,MISSENSE SNP Somatic -1 0.102 SQHIGH 8 18 26 0 17 17 Cosmic_Gene T T A T T TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 51654 20 31984713 31984713 20 WT diagnosis snv MED12 missense G44C NM_005120 50-PAKJGM MED12 MISSENSE SNP Somatic 9 0.297 SQHIGH 10 3 13 0 8 8 Cosmic_Gene G T G TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 9968 X 70339253 70339253 31 WT diagnosis snv HOOK1 missense L648M NM_015888 50-PAKKSE HOOK1 MISSENSE SNP Somatic PFAM:PF05622:HOOK -3 0.094 SQHIGH 6 13 19 0 20 20 Cosmic_Gene C C A C C TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 51361 1 60334018 60334018 21 WT diagnosis snv CTNNB1 missense H36P NM_001904 50-PAKKSE CTNNB1 MISSENSE SNP Somatic 16 0.765 SQHIGH 15 20 35 0 42 42 COSMIC:mut:5678 Cosmic_Gene A A C A A TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 1499 3 41266110 41266110 60 WT diagnosis snv IRF4 missense C386R NM_002460 50-PAKKSE IRF4 MISSENSE,UTR SNP Somatic PFAM:PF10401:IRF-3 10 0.358 SQHIGH 41 44 85 0 78 78 Cosmic_Gene T T C T T TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 3662 6 405074 405074 143 WT diagnosis snv HEATR2 silent A380A NM_017802 50-PAKKSE HEATR2 SYNONYMOUS SNP Somatic -10 0.055 SQHIGH 6 25 31 0 31 31 Cosmic_Gene A A C A A TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 54919 7 794341 794341 19 WT diagnosis snv CYP2C19 missense Q276L NM_000769 50-PAKKSE CYP2C19 MISSENSE SNP Somatic PFAM:PF00067:p450 6 0.226 SQHIGH 18 37 55 0 58 58 Cosmic_Gene A A T A A TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 1557 10 96580260 96580260 64 WT diagnosis snv WDR89 missense A88G NM_001008726 50-PAKKSE WDR89 MISSENSE SNP Somatic PFAM:PF00400:WD40 -7 0.069 SQHIGH 8 19 27 1 25 26 G G C G G TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 112840 14 64066398 64066398 19 WT diagnosis snv WDR89 missense S87P NM_001008726 50-PAKKSE WDR89 MISSENSE SNP Somatic PFAM:PF00400:WD40 -4 0.087 SQHIGH 8 21 29 1 23 24 A A G A A TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 112840 14 64066402 64066402 16 WT diagnosis snv HERC1 missense P3314L NM_003922 50-PAKKSE HERC1 MISSENSE SNP Somatic 16 0.765 SQHIGH 14 12 26 0 35 35 Cosmic_Gene G G A G G TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 8925 15 63948084 63948084 64 WT diagnosis snv LMAN1L splice_region Q146_E3splice_region NM_021819 50-PAKKSE LMAN1L DONOR SNP Somatic 13 0.517 SQHIGH 38 39 77 1 85 86 G G A G G TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 79748 15 75108880 75108880 137 WT diagnosis snv EFCAB6 missense L774Q NM_022785 50-PAKKSE EFCAB6 MISSENSE SNP Somatic -7 0.069 SQHIGH 7 57 64 1 77 78 Cosmic_Gene A A T A A TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 64800 22 44022471 44022471 18 WT diagnosis snv ZNF449 silent I228I NM_152695 50-PAKKSE ZNF449 SYNONYMOUS SNP Somatic 9 0.318 SQHIGH 25 29 54 0 44 44 Cosmic_Gene C C T C C TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 203523 X 134494128 134494128 79 WT diagnosis mnv ARID1A missense S709_R710>CC NM_006015 50-PAKKSE ARID1A MISSENSE Sub Somatic -4 0.414 SQHIGH 12 35 47 0 27 27 Cosmic_Gene CTC CTC GTT CTC CTC TARGET-50-PAKKSE-01A-01D TARGET-50-PAKKSE-11A-01D 8289 1 27087552 27087554 26 WT diagnosis snv AGRN missense C901S NM_198576 50-PAKMUB AGRN MISSENSE SNP Somatic 20 1.000 SQHIGH 20 13 33 0 38 38 Cosmic_Gene T T A T T TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 375790 1 981364 981364 86 WT diagnosis snv ZNF804A missense K612T NM_194250 50-PAKMUB ZNF804A MISSENSE SNP Somatic 4 0.194 SQHIGH 8 25 33 0 31 31 Cosmic_Gene A A C A A TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 91752 2 185801958 185801958 25 WT diagnosis snv SLC16A14 missense A460S NM_152527 50-PAKMUB SLC16A14 MISSENSE SNP Somatic 10 0.379 SQHIGH 22 21 43 0 31 31 Cosmic_Gene C C A C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 151473 2 230910464 230910464 65 WT diagnosis snv AGXT missense G116R NM_000030 50-PAKMUB AGXT MISSENSE SNP Somatic 5 0.217 SQHIGH 11 30 41 0 33 33 G G A G G TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 189 2 241808767 241808767 31 WT diagnosis snv ANO7 missense Q932E NM_001001891 50-PAKMUB ANO7 MISSENSE SNP Somatic -5 0.082 SQHIGH 4 21 25 0 35 35 Cosmic_Gene C C G C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 50636 2 242163560 242163560 16 WT diagnosis snv ALS2CL silent L261L NM_147129 50-PAKMUB ALS2CL SYNONYMOUS,UTR SNP Somatic 13 0.524 SQHIGH 15 4 19 0 32 32 Cosmic_Gene C C A C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 259173 3 46727018 46727018 89 WT diagnosis snv COL6A6 missense D2019N NM_001102608 50-PAKMUB COL6A6 MISSENSE SNP Somatic -4 0.089 SQHIGH 7 22 29 0 36 36 Cosmic_Gene G G A G G TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 131873 3 130380705 130380705 26 WT diagnosis snv ZFYVE28 silent S681S NM_020972 50-PAKMUB ZFYVE28 SYNONYMOUS SNP Somatic 1 0.142 SQHIGH 11 18 29 0 23 23 Cosmic_Gene C C T C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 57732 4 2306024 2306024 32 WT diagnosis snv MAP7 missense H139L NM_003980 50-PAKMUB MAP7 INTRON,UTR5,MISSENSE SNP Somatic 1 0.142 SQHIGH 8 22 30 0 33 33 T T A T T TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 9053 6 136709641 136709641 28 WT diagnosis snv ADAP1 splice_region E71_E2splice_region NM_006869 50-PAKMUB ADAP1 INTRON SNP Somatic -8 0.065 SQHIGH 6 42 48 0 43 43 Cosmic_Gene T T C T T TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 11033 7 975004 975004 17 WT diagnosis snv CLDN15 silent E109E NM_014343 50-PAKMUB CLDN15 SYNONYMOUS SNP Somatic PFAM:PF00822:PMP22_Claudin 9 0.344 SQHIGH 13 36 49 0 31 31 Cosmic_Gene C C T C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 24146 7 100877614 100877614 31 WT diagnosis snv IMPDH1 missense C412F NM_000883 50-PAKMUB IMPDH1 MISSENSE SNP Somatic 9 0.344 SQHIGH 12 37 49 0 36 36 Cosmic_Gene C C A C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 3614 7 128036680 128036680 32 WT diagnosis snv ZNF746 silent R522R NM_001163474 50-PAKMUB ZNF746 SYNONYMOUS SNP Somatic -3 0.097 SQHIGH 11 37 48 1 41 42 Cosmic_Gene G G A G G TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 155061 7 149171847 149171847 24 WT diagnosis snv OPLAH missense N1106S NM_017570 50-PAKMUB OPLAH MISSENSE SNP Somatic 11 0.422 SQHIGH 7 7 14 0 20 20 T T C T T TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 26873 8 145107216 145107216 32 WT diagnosis snv ZNF25 nonsense K53* NM_145011 50-PAKMUB ZNF25 NONSENSE SNP Somatic 6 0.258 SQHIGH 18 48 66 0 39 39 Cosmic_Gene T T A T T TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 219749 10 38246029 38246029 41 WT diagnosis snv ZWINT missense Q190L NM_007057 50-PAKMUB ZWINT INTRON,MISSENSE SNP Somatic 17 0.840 SQHIGH 14 20 34 0 24 24 T T A T T TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 11130 10 58118620 58118620 39 WT diagnosis snv ZSWIM8 missense D119G NM_015037 50-PAKMUB ZSWIM8 MISSENSE SNP Somatic 4 0.194 SQHIGH 16 50 66 0 74 74 Cosmic_Gene A A G A A TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 23053 10 75548575 75548575 57 WT diagnosis snv MUC5B missense V4857M NM_002458 50-PAKMUB MUC5B MISSENSE SNP Somatic 13 0.524 SQHIGH 16 25 41 1 51 52 G G A G G TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 727897 11 1272679 1272679 55 WT diagnosis snv EIF4G2 splice_region E471_E14splice_region NM_001418 50-PAKMUB EIF4G2|SNORD97 INTRON|TSS-UPSTREAM SNP Somatic 7 0.285 SQHIGH 17 15 32 0 31 31 Cosmic_Gene C C A C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 1982|692223 11 10823199 10823199 63 WT diagnosis snv SLC26A10 missense G428E NM_133489 50-PAKMUB SLC26A10 MISSENSE SNP Somatic 6 0.258 SQHIGH 20 57 77 0 56 56 Cosmic_Gene G G A G G TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 65012 12 58018704 58018704 53 WT diagnosis snv NUP107 missense L70F NM_020401 50-PAKMUB NUP107|LOC100507250 MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs150089945 Somatic 16 0.737 SQHIGH 14 25 39 0 41 41 Cosmic_Gene A A T A A TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 57122|100507250 12 69084433 69084433 50 WT diagnosis snv NLRC5 silent S1564S NM_032206 50-PAKMUB NLRC5 SYNONYMOUS SNP Somatic -6 0.076 SQHIGH 4 16 20 0 26 26 Cosmic_Gene C C T C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 84166 16 57108536 57108536 15 WT diagnosis snv DNAAF1 missense R121G NM_178452 50-PAKMUB DNAAF1 MISSENSE SNP Somatic 20 1.000 SQHIGH 25 12 37 0 63 63 Cosmic_Gene C C G C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 123872 16 84188190 84188190 141 WT diagnosis snv CLUH missense S65F NM_015229 50-PAKMUB CLUH MISSENSE SNP Somatic 0 0.130 SQHIGH 29 19 48 0 50 50 Cosmic_Gene G G A G G TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 23277 17 2606779 2606779 117 WT diagnosis snv CEP131 missense R263G NM_014984 50-PAKMUB CEP131 MISSENSE SNP Somatic -10 0.056 SQHIGH 3 5 8 0 22 22 Cosmic_Gene T T C T T TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 22994 17 79176041 79176041 19 WT diagnosis snv ANKRD62 missense L873P NM_001277333 50-PAKMUB ANKRD62 MISSENSE SNP Somatic 5 0.217 SQHIGH 6 3 9 0 20 20 T T C T T TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 342850 18 12127802 12127802 38 WT diagnosis snv CSNK1G2-AS1 EXON E1_exon NM_001319 50-PAKMUB CSNK1G2|C19orf34 INTRON|UTR SNP Somatic -10 0.056 SQHIGH 4 33 37 0 40 40 Cosmic_Gene G G C G G TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 1455|255193 19 1953932 1953932 13 WT diagnosis snv GNA15 missense A113T NM_002068 50-PAKMUB GNA15 MISSENSE SNP Somatic -3 0.097 SQHIGH 15 35 50 0 45 45 Cosmic_Gene G G A G G TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 2769 19 3150135 3150135 47 WT diagnosis snv KCTD15 silent A207A NM_024076 50-PAKMUB KCTD15 SYNONYMOUS SNP Somatic 15 0.672 SQHIGH 14 25 39 0 33 33 Cosmic_Gene C C T C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 79047 19 34302385 34302385 43 WT diagnosis snv PLEKHG2 silent P1259P NM_022835 50-PAKMUB PLEKHG2 SYNONYMOUS SNP Somatic -9 0.060 SQHIGH 8 32 40 1 49 50 Cosmic_Gene T T C T T TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 64857 19 39915550 39915550 22 WT diagnosis snv ZNF404 missense A332D NM_001033719 50-PAKMUB ZNF404 MISSENSE SNP Somatic 5 0.217 SQHIGH 15 30 45 0 46 46 G G T G G TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 342908 19 44377362 44377362 52 WT diagnosis snv CECR5-AS1 EXON E1_exon NM_017829 50-PAKMUB CECR5|CECR5-AS1 INTRON,TSS-UPSTREAM|UTR SNP Somatic 5 0.217 SQHIGH 9 12 21 0 23 23 C C A C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 27440|100130717 22 17640302 17640302 34 WT diagnosis snv MYH9 splice Y111_E2splice NM_002473 50-PAKMUB MYH9 DISRUPT SNP Somatic 19 0.955 SQHIGH 13 11 24 0 41 41 Cosmic_Gene C C T C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 4627 22 36744948 36744948 68 WT diagnosis snv SREBF2 silent L864L NM_004599 50-PAKMUB MIR33A|SREBF2 TSS-UPSTREAM|SYNONYMOUS SNP Somatic 10 0.379 SQHIGH 21 19 40 0 52 52 Cosmic_Gene C C T C C TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 407039|6721 22 42293152 42293152 93 WT diagnosis complex TTLL5 frameshift R225fs NM_015072 50-PAKMUB TTLL5 FRAMESHIFT Sub Somatic PFAM:PF03133:TTL -10 0.270 SQHIGH 4 21 25 0 32 32 Cosmic_Gene CG CG CAGT CG CG TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 23093 14 76173983 76173984 15 WT diagnosis snv NGLY1 splice T164T NM_018297 50-PAKNAL NGLY1 SYNONYMOUS SNP Somatic 14 0.613 SQHIGH 20 20 40 0 20 20 Cosmic_Gene C C T C C TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 55768 3 25805557 25805557 45 WT diagnosis snv CTNNB1 missense K335T NM_001904 50-PAKNAL CTNNB1 MISSENSE SNP Somatic -2 0.118 SQHIGH 14 10 24 0 19 19 Cosmic_Gene A A C A A TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 1499 3 41268766 41268766 46 WT diagnosis snv UGT2B7 missense V499L NM_001074 50-PAKNAL UGT2B7 MISSENSE SNP Somatic PFAM:PF00201:UDPGT -1 0.129 SQHIGH 9 4 13 0 12 12 Cosmic_Gene G G C G G TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 7364 4 69978359 69978359 35 WT diagnosis snv NFE2L3 missense E623A NM_004289 50-PAKNAL NFE2L3 MISSENSE SNP Somatic PFAM:PF00170:bZIP_1 2 0.173 SQHIGH 32 34 66 1 53 54 Cosmic_Gene A A C A A TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 9603 7 26225186 26225186 90 WT diagnosis snv CDK5 missense Y285D NM_004935 50-PAKNAL SLC4A2|CDK5 TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF03109:ABC1 1 0.157 SQHIGH 5 20 25 0 29 29 Cosmic_Gene A A C A A TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 6522|1020 7 150751122 150751122 18 WT diagnosis snv FRMPD1 silent C669C NM_014907 50-PAKNAL FRMPD1 SYNONYMOUS SNP Somatic 12 0.484 SQHIGH 20 16 36 0 42 42 Cosmic_Gene C C T C C TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 22844 9 37740532 37740532 84 WT diagnosis snv WT1 missense R445W NM_000378 50-PAKNAL WT1 MISSENSE SNP dbsnp.132:rs121907900 Somatic 20 0.996 SQHIGH 35 1 36 1 44 45 COSMIC:mut:21417 Cosmic_Gene G A A G G TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 7490 11 32413566 32413566 199 WT diagnosis snv OR9G4 silent Y210Y NM_001005284 50-PAKNAL OR9G4 SYNONYMOUS SNP dbsnp.134:rs149148369 Somatic PFAM:PF00001:7tm_1 16 0.756 SQHIGH 36 28 64 0 63 63 Cosmic_Gene G G A G G TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 283189 11 56510658 56510658 137 WT diagnosis snv SLC23A2 missense A287T NM_005116 50-PAKNAL SLC23A2 MISSENSE SNP Somatic PFAM:PF00860:Xan_ur_permease PFAM:PF00916:Sulfate_transp 13 0.540 SQHIGH 22 18 40 0 41 41 Cosmic_Gene C C T C C TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 9962 20 4855308 4855308 85 WT diagnosis snv ZNF133 silent T283T NM_003434 50-PAKNAL ZNF133 SYNONYMOUS SNP Somatic 17 0.854 SQHIGH 33 33 66 0 75 75 Cosmic_Gene G G A G G TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 7692 20 18296347 18296347 134 WT diagnosis snv OPHN1 silent P633P NM_002547 50-PAKNAL OPHN1 SYNONYMOUS SNP Somatic -5 0.091 SQHIGH 4 30 34 0 37 37 Cosmic_Gene T T G T T TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 4983 X 67283955 67283955 13 WT diagnosis complex LPHN2 frameshift L1225_E1226fs NM_012302 50-PAKNAL LPHN2 FRAMESHIFT Sub Somatic PFAM:PF02354:Latrophilin -6 0.371 SQHIGH 5 5 10 1 25 26 Cosmic_Gene TCG TCG TACC TCG TCG TARGET-50-PAKNAL-01A-01D TARGET-50-PAKNAL-10A-01D 23266 1 82456291 82456293 25 WT diagnosis snv FOXO6 missense D462N NM_001291281 50-PAKNRX FOXO6 MISSENSE SNP Somatic -4 0.098 SQHIGH 7 9 16 0 9 9 G G A G G TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 100132074 1 41848258 41848258 16 WT diagnosis snv BRDT missense R399T NM_207189 50-PAKNRX BRDT MISSENSE SNP Somatic 11 0.486 SQHIGH 18 25 43 0 42 42 Cosmic_Gene G G C G G TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 676 1 92445223 92445223 Somatic Illumina 63 16657 15324 31994 60620 20 60676 WT diagnosis snv EIF4A2 missense Q103L NM_001967 50-PAKNRX SNORA4|SNORA81|EIF4A2|SNORA63 TSS-UPSTREAM|TSS-UPSTREAM|MISSENSE|TSS-UPSTREAM SNP Somatic -3 0.108 SQHIGH 13 39 52 0 51 51 Cosmic_Gene A A T A A TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 619568|677847|1974|6043 3 186502850 186502850 Somatic Illumina 42 38515 9051 47690 80137 18 80413 WT diagnosis snv CSMD1 silent S3327S NM_033225 50-PAKNRX CSMD1 SYNONYMOUS SNP dbsnp.134:rs147768119 Somatic PFAM:PF00084:Sushi 12 0.552 SQHIGH 22 19 41 0 34 34 Cosmic_Gene C C T C C TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 64478 8 2813124 2813124 Somatic Illumina 73 54360 52473 106847 182385 80 182480 WT diagnosis snv UBQLNL missense S421N NM_145053 50-PAKNRX UBQLNL MISSENSE SNP Somatic 6 0.270 SQHIGH 14 11 25 0 26 26 Cosmic_Gene C C T C C TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 143630 11 5536410 5536410 Somatic Illumina 55 30200 27662 57894 93210 45 93300 WT diagnosis snv SLC8B1 splice Y103_E3splice NM_024959 50-PAKNRX SLC8B1 DISRUPT SNP Somatic 16 0.814 SQHIGH 13 13 26 3 60 63 Cosmic_Gene C C T C C TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 80024 12 113759000 113759000 Somatic Illumina 56 18046 17010 35058 58448 22 58475 WT diagnosis snv EXD2 missense L48P NM_001193360 50-PAKNRX EXD2 INTRON,MISSENSE,UTR SNP Somatic -6 0.083 SQHIGH 3 11 14 0 31 31 T T C T T TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 55218 14 69676330 69676330 16 WT diagnosis snv TP53 missense L194R NM_000546 50-PAKNRX TP53 MISSENSE SNP Somatic 12 0.552 SQHIGH 25 1 26 1 62 63 COSMIC:mut:44571 Cosmic_Gene A C C A A TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 7157 17 7578268 7578268 Somatic Illumina 191 860 14705 15586 28709 4 28769 WT diagnosis snv KIF19 missense I123M NM_153209 50-PAKNRX KIF19 MISSENSE SNP Somatic 16 0.814 SQHIGH 15 23 38 0 63 63 C C G C C TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 124602 17 72339212 72339212 TumorFP Illumina 73 12096 0 12102 23901 3 23911 WT diagnosis snv NAT9 silent I153I NM_015654 50-PAKNRX NAT9|TMEM104 SYNONYMOUS|TSS-UPSTREAM SNP Somatic PFAM:PF01553:Acyltransferase 9 0.399 SQHIGH 33 35 68 0 114 114 G G A G G TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 26151|54868 17 72768129 72768129 Somatic Illumina 169 42900 39863 82780 108534 44 108605 WT diagnosis snv TGM2 missense T442I NM_004613 50-PAKNRX TGM2 MISSENSE SNP Somatic -5 0.091 SQHIGH 11 40 51 0 69 69 Cosmic_Gene G G A G G TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 7052 20 36767831 36767831 Somatic Illumina 44 17182 3937 21121 32628 12 32640 WT diagnosis snv NID1 missense A683V NM_002508 50-PAKNTW NID1 MISSENSE SNP dbsnp.134:rs146611286 Somatic PFAM:PF07645:EGF_CA 4 0.190 SQHIGH 20 37 57 0 32 32 Cosmic_Gene G G A G G TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 4811 1 236187450 236187450 45 WT diagnosis snv PDHB missense V261G NM_000925 50-PAKNTW PDHB MISSENSE,UTR SNP Somatic PFAM:PF02780:Transketolase_C 11 0.399 SQHIGH 8 22 30 1 28 29 Cosmic_Gene A A C A A TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 5162 3 58415445 58415445 18 WT diagnosis snv ATP1B3 missense Y43C NM_001679 50-PAKNTW LOC100507375|ATP1B3 UTR|MISSENSE SNP Somatic PFAM:PF00287:Na_K-ATPase 20 0.990 SQHIGH 17 19 36 0 57 57 A A G A A TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 100507375|483 3 141622480 141622480 83 WT diagnosis snv TLR3 missense S88P NM_003265 50-PAKNTW TLR3 MISSENSE SNP Somatic -5 0.081 SQHIGH 7 26 33 1 36 37 Cosmic_Gene T T C T T TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 7098 4 186998035 186998035 17 WT diagnosis snv JAKMIP2 missense D504Y NM_014790 50-PAKNTW LOC153469|JAKMIP2 INTRON|MISSENSE SNP Somatic -9 0.059 SQHIGH 7 25 32 0 34 34 Cosmic_Gene C C A C C TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 153469|9832 5 147019215 147019215 24 WT diagnosis snv DYNC1I1 silent S256S NM_004411 50-PAKNTW DYNC1I1 SYNONYMOUS SNP Somatic 12 0.449 SQHIGH 10 23 33 0 28 28 Cosmic_Gene C C T C C TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 1780 7 95614263 95614263 30 WT diagnosis snv ERCC6L2 splice K209K NM_001010895 50-PAKNTW C9orf102 SYNONYMOUS SNP Somatic -10 0.055 SQHIGH 4 25 29 0 38 38 G G A G G TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 375748 9 98660253 98660253 15 WT diagnosis snv OR4A15 silent A233A NM_001005275 50-PAKNTW OR4A15 SYNONYMOUS SNP dbsnp.134:rs141225150 Somatic PFAM:PF00001:7tm_1 13 0.502 SQHIGH 18 25 43 0 55 55 Cosmic_Gene G G A G G TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 81328 11 55136058 55136058 75 WT diagnosis snv ATN1 missense A385V NM_001007026 50-PAKNTW ATN1 MISSENSE SNP Somatic -3 0.096 SQHIGH 5 31 36 0 33 33 Cosmic_Gene C C T C C TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 1822 12 7045584 7045584 15 WT diagnosis snv ATN1 missense S386F NM_001007026 50-PAKNTW ATN1 MISSENSE SNP Somatic -6 0.076 SQHIGH 5 39 44 0 34 34 Cosmic_Gene C C T C C TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 1822 12 7045587 7045587 13 WT diagnosis snv MAX missense R60Q NM_002382 50-PAKNTW MAX INTRON,MISSENSE SNP Somatic 2 0.155 SQHIGH 12 18 30 0 31 31 Cosmic_Gene C C T C C TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 4149 14 65544747 65544747 43 WT diagnosis snv TMEM62 silent L581L NM_024956 50-PAKNTW CCNDBP1|TMEM62 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -7 0.069 SQHIGH 5 19 24 0 23 23 Cosmic_Gene G G A G G TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 23582|80021 15 43476595 43476595 16 WT diagnosis snv HERC1 missense E2971G NM_003922 50-PAKNTW HERC1 MISSENSE SNP Somatic -9 0.059 SQHIGH 5 23 28 0 29 29 Cosmic_Gene T T C T T TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 8925 15 63954210 63954210 16 WT diagnosis snv ATP6V0C missense I64S NM_001694 50-PAKNTW AMDHD2|ATP6V0C TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF00137:ATP-synt_C 6 0.242 SQHIGH 19 45 64 1 43 44 Cosmic_Gene T T G T T TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 51005|527 16 2569330 2569330 39 WT diagnosis snv KRT9 missense A393V NM_000226 50-PAKNTW KRT9 MISSENSE SNP Somatic PFAM:PF00038:Filament -31 0.006 4 41 45 0 55 55 Cosmic_Gene G G A G G TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 3857 17 39724630 39724630 14 WT diagnosis snv CACTIN missense S27R NM_001080543 50-PAKNTW CACTIN MISSENSE SNP Somatic -10 0.055 SQHIGH 4 26 30 0 40 40 A A C A A TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 58509 19 3626680 3626680 15 WT diagnosis snv TNFSF14 nonsense R87* NM_003807 50-PAKNTW TNFSF14 NONSENSE SNP Somatic 1 0.140 SQHIGH 7 12 19 0 15 15 Cosmic_Gene G G A G G TARGET-50-PAKNTW-01A-02D TARGET-50-PAKNTW-10A-01D 8740 19 6667163 6667163 20 WT diagnosis snv BSN splice_region E506_E3splice_region NM_003458 50-PAKNXS BSN INTRON SNP Somatic 7 0.245 SQHIGH 20 31 51 0 48 48 Cosmic_Gene G G T G G TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 8927 3 49680592 49680592 67 WT diagnosis snv DOCK4 missense C293R NM_014705 50-PAKNXS DOCK4 MISSENSE SNP Somatic 8 0.271 SQHIGH 29 45 74 0 58 58 Cosmic_Gene A A G A A TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 9732 7 111580265 111580265 86 WT diagnosis snv GIMAP6 missense C113F NM_024711 50-PAKNXS GIMAP6 MISSENSE,UTR SNP Somatic 12 0.423 SQHIGH 30 31 61 0 53 53 Cosmic_Gene C C A C C TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 474344 7 150325348 150325348 101 WT diagnosis snv RGS20 missense R101P NM_170587 50-PAKNXS RGS20 TSS-UPSTREAM,MISSENSE SNP Somatic -8 0.064 SQHIGH 5 41 46 0 38 38 Cosmic_Gene G G C G G TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 8601 8 54791954 54791954 14 WT diagnosis snv COL4A1 splice_region G876_E32splice_region NM_001845 50-PAKNXS COL4A1 DONOR SNP Somatic 14 0.556 SQHIGH 37 25 62 0 30 30 Cosmic_Gene T T G T T TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 1282 13 110830407 110830407 87 WT diagnosis snv TP53 nonsense R342* NM_000546 50-PAKNXS TP53 UTR3,NONSENSE SNP Somatic PFAM:PF07710:P53_tetramer 19 0.937 SQHIGH 20 4 24 0 40 40 COSMIC:mut:11073,COSMIC:mut:99721 Cosmic_Gene G G A G G TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 7157 17 7574003 7574003 123 WT diagnosis snv WDR7 missense C38R NM_015285 50-PAKNXS WDR7 MISSENSE SNP Somatic PFAM:PF00400:WD40 -7 0.069 SQHIGH 4 11 15 0 20 20 Cosmic_Gene T T C T T TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 23335 18 54339858 54339858 16 WT diagnosis snv PRND missense R156W NM_012409 50-PAKNXS PRND MISSENSE SNP Somatic PFAM:PF00377:Prion 9 0.300 SQHIGH 25 25 50 0 49 49 C C T C C TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 23627 20 4705663 4705663 92 WT diagnosis snv RNF215 silent L259L NM_001017981 50-PAKNXS RNF215 SYNONYMOUS SNP Somatic 1 0.132 SQHIGH 7 15 22 0 15 15 Cosmic_Gene C C G C C TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 200312 22 30776358 30776358 18 WT diagnosis snv RNF215 missense I258M NM_001017981 50-PAKNXS RNF215 MISSENSE SNP Somatic -8 0.064 SQHIGH 7 15 22 0 16 16 Cosmic_Gene G G C G G TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 200312 22 30776361 30776361 19 WT diagnosis snv CARD10 missense C1020W NM_014550 50-PAKNXS MFNG|CARD10 TSS-UPSTREAM|MISSENSE SNP Somatic -8 0.064 SQHIGH 6 11 17 1 20 21 Cosmic_Gene G G C G G TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 4242|29775 22 37887236 37887236 17 WT diagnosis snv SLC11A1 missense G523R NM_000578 50-PAKRVH SLC11A1|CTDSP1 MISSENSE|TSS-UPSTREAM SNP dbsnp.134:rs142604013 Somatic 18 0.875 SQHIGH 39 25 64 0 43 43 Cosmic_Gene G G A G G TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 6556|58190 2 219259672 219259672 118 WT diagnosis snv PROS1 missense E227G NM_000313 50-PAKRVH PROS1 MISSENSE SNP Somatic PFAM:PF07645:EGF_CA -10 0.057 SQHIGH 6 19 25 1 37 38 Cosmic_Gene T T C T T TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 5627 3 93619695 93619695 19 WT diagnosis snv SOX14 missense A142E NM_004189 50-PAKRVH SOX14 MISSENSE SNP Somatic -3 0.092 SQHIGH 8 6 14 0 19 19 C C A C C TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 8403 3 137484051 137484051 37 WT diagnosis snv ATP6V1H missense E48G NM_015941 50-PAKRVH ATP6V1H MISSENSE SNP Somatic PFAM:PF03224:V-ATPase_H_N -7 0.069 SQHIGH 6 20 26 1 37 38 T T C T T TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 51606 8 54745617 54745617 18 WT diagnosis snv CSMD3 missense E922G NM_198123 50-PAKRVH CSMD3 MISSENSE SNP Somatic -8 0.064 SQHIGH 6 31 37 0 36 36 Cosmic_Gene T T C T T TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 114788 8 113678557 113678557 19 WT diagnosis snv NPR2 missense T871R NM_003995 50-PAKRVH NPR2 MISSENSE SNP Somatic -8 0.064 SQHIGH 4 20 24 0 29 29 Cosmic_Gene C C G C C TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 4882 9 35807112 35807112 14 WT diagnosis snv NUP98 missense S1467P NM_016320 50-PAKRVH NUP98 MISSENSE SNP Somatic PFAM:PF12110:Nup96 -10 0.057 SQHIGH 7 29 36 0 40 40 Cosmic_Gene A A G A A TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 4928 11 3712632 3712632 24 WT diagnosis snv RAB3IL1 missense E227A NM_013401 50-PAKRVH RAB3IL1 MISSENSE SNP Somatic 17 0.819 SQHIGH 15 20 35 0 30 30 Cosmic_Gene T T G T T TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 5866 11 61672332 61672332 48 WT diagnosis snv FAM76B nonsense Q236* NM_144664 50-PAKRVH FAM76B NONSENSE SNP Somatic -6 0.074 SQHIGH 4 9 13 0 16 16 G G A G G TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 143684 11 95512108 95512108 15 WT diagnosis snv PPP1R1A splice E49_E2splice NM_006741 50-PAKRVH PPP1R1A DISRUPT SNP Somatic 10 0.320 SQHIGH 24 31 55 0 45 45 C C A C C TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 5502 12 54978043 54978043 75 WT diagnosis snv SIX1 missense Q177R NM_005982 50-PAKRVH SIX1 MISSENSE SNP Somatic 16 0.692 SQHIGH 13 19 32 0 34 34 T T C T T TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 6495 14 61115378 61115378 48 WT diagnosis snv USP22 missense Y42H NM_015276 50-PAKRVH USP22 MISSENSE SNP Somatic -9 0.061 SQHIGH 7 21 28 1 36 37 Cosmic_Gene A A G A A TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 23326 17 20946025 20946025 20 WT diagnosis snv KSR1 missense S99P NM_014238 50-PAKRVH KSR1 MISSENSE SNP Somatic -10 0.057 SQHIGH 5 31 36 0 34 34 Cosmic_Gene T T C T T TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 8844 17 25909857 25909857 15 WT diagnosis snv ZNF396 splice D188_E3splice NM_145756 50-PAKRVH ZNF396 MISSENSE SNP Somatic 8 0.260 SQHIGH 23 31 54 0 50 50 C C A C C TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 252884 18 32953420 32953420 78 WT diagnosis snv RASAL3 missense E897G NM_022904 50-PAKRVH RASAL3|WIZ MISSENSE|TSS-UPSTREAM SNP Somatic PFAM:PF12329:TMF_DNA_bd -10 0.057 SQHIGH 5 19 24 0 22 22 T T C T T TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 64926|58525 19 15563607 15563607 15 WT diagnosis snv ZNF280B silent R350R NM_080764 50-PAKRVH ZNF280B SYNONYMOUS SNP Somatic 11 0.357 SQHIGH 18 19 37 1 31 32 Cosmic_Gene C C T C C TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 140883 22 22842674 22842674 49 WT diagnosis snv DUSP18 silent H123H NM_152511 50-PAKRVH DUSP18 SYNONYMOUS SNP Somatic PFAM:PF00782:DSPc 3 0.154 SQHIGH 6 15 21 0 26 26 G G A G G TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 150290 22 31059622 31059622 23 WT diagnosis snv NPHP4 missense A763V NM_015102 50-PAKRZW NPHP4 MISSENSE SNP Somatic -8 0.060 SQHIGH 3 10 13 0 29 29 Cosmic_Gene G G A G G TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 261734 1 5950944 5950944 16 WT diagnosis snv RABGAP1L splice A56A NM_001243765 50-PAKRZW RABGAP1L INTRON SNP Somatic 10 0.345 SQHIGH 34 41 75 0 63 63 Cosmic_Gene G G A G G TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 9910 1 174769638 174769638 110 WT diagnosis snv SPOCK3 missense S16W NM_001204355 50-PAKRZW SPOCK3 SYNONYMOUS,UTR5,MISSENSE SNP Somatic 10 0.345 SQHIGH 21 20 41 0 39 39 Cosmic_Gene G G C G G TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 50859 4 168155160 168155160 76 WT diagnosis snv HDAC3 splice_region W307_E12splice_region NM_003883 50-PAKRZW HDAC3 ACCEPTOR SNP Somatic 2 0.143 SQHIGH 4 18 22 0 24 24 Cosmic_Gene A A G A A TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 8841 5 141005642 141005642 13 WT diagnosis snv EGFL8 silent C168C NM_030652 50-PAKRZW PPT2-EGFL8|EGFL8 UTR|SYNONYMOUS,UTR SNP Somatic PFAM:PF07645:EGF_CA 4 0.173 SQHIGH 17 16 33 0 29 29 C C T C C TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 100532746|80864 6 32134937 32134937 58 WT diagnosis snv ARID1B missense S957N NM_017519 50-PAKRZW ARID1B MISSENSE SNP Somatic 5 0.190 SQHIGH 7 30 37 0 32 32 Cosmic_Gene G G A G G TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 57492 6 157488203 157488203 20 WT diagnosis snv KCNQ1OT1 EXON E10_exon NM_000218 50-PAKRZW KCNQ1 INTRON SNP Somatic -5 0.076 SQHIGH 7 15 22 1 24 25 Cosmic_Gene T T C T T TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 3784 11 2661169 2661169 18 WT diagnosis snv LRRC16B nonsense Q324* NM_138360 50-PAKRZW LRRC16B NONSENSE SNP Somatic 17 0.859 SQHIGH 33 30 63 0 58 58 Cosmic_Gene C C T C C TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 90668 14 24526141 24526141 118 WT diagnosis snv SLC12A4 silent T167T NM_005072 50-PAKRZW SLC12A4 SYNONYMOUS SNP Somatic -6 0.071 SQHIGH 8 32 40 1 40 41 Cosmic_Gene C C G C C TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 6560 16 67991688 67991688 19 WT diagnosis snv QRICH2 splice_region V1072_E4splice_region NM_032134 50-PAKRZW QRICH2 INTRON SNP Somatic 7 0.244 SQHIGH 18 51 69 0 64 64 Cosmic_Gene C C T C C TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 84074 17 74287086 74287086 57 WT diagnosis snv ZNF407 silent L1254L NM_017757 50-PAKRZW ZNF407 SYNONYMOUS SNP Somatic 14 0.583 SQHIGH 17 23 40 0 40 40 Cosmic_Gene C C T C C TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 55628 18 72346737 72346737 61 WT diagnosis snv ZNF729 silent D1107D NM_001242680 50-PAKRZW ZNF729 SYNONYMOUS SNP Somatic 13 0.500 SQHIGH 16 28 44 0 59 59 Cosmic_Gene C C T C C TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 100287226 19 22499540 22499540 67 WT diagnosis snv COL6A2 missense E422K NM_001849 50-PAKRZW COL6A2 MISSENSE SNP Somatic 4 0.173 SQHIGH 20 38 58 0 64 64 Cosmic_Gene G G A G G TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 1292 21 47539028 47539028 74 WT diagnosis snv BCOR nonsense Q1110* NM_017745 50-PAKRZW BCOR NONSENSE SNP Somatic 17 0.859 SQHIGH 23 24 47 0 63 63 Cosmic_Gene G G A G G TARGET-50-PAKRZW-01A-01D TARGET-50-PAKRZW-11A-01D 54880 X 39923763 39923763 103 WT diagnosis snv ARAP3 missense R511H NM_022481 50-PAKSCC ARAP3 MISSENSE SNP Somatic PFAM:PF01412:ArfGap 4 0.188 SQHIGH 16 36 52 0 43 43 Cosmic_Gene C C T C C TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 64411 5 141051722 141051722 47 WT diagnosis snv HIST1H2AG missense A104G NM_021064 50-PAKSCC HIST1H2BJ|HIST1H2AG TSS-UPSTREAM|MISSENSE SNP Somatic 10 0.376 SQHIGH 26 27 53 0 47 47 C C G C C TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 8970|8969 6 27101161 27101161 89 WT diagnosis snv GPR31 silent Y49Y NM_005299 50-PAKSCC GPR31 SYNONYMOUS SNP Somatic 15 0.711 SQHIGH 36 38 74 0 67 67 G G A G G TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 2853 6 167571173 167571173 124 WT diagnosis snv OR1J2 missense F31Y NM_054107 50-PAKSCC OR1J2 MISSENSE SNP Somatic -9 0.059 SQHIGH 4 26 30 0 36 36 Cosmic_Gene T T A T T TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 26740 9 125273172 125273172 14 WT diagnosis snv PCNX silent H2205H NM_014982 50-PAKSCC PCNX SYNONYMOUS SNP Somatic -10 0.055 SQHIGH 5 27 32 0 38 38 Cosmic_Gene T T C T T TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 22990 14 71575634 71575634 18 WT diagnosis snv MAPT silent S555S NM_016835 50-PAKSCC STH|MAPT TSS-UPSTREAM|SYNONYMOUS SNP Somatic 14 0.618 SQHIGH 30 27 57 1 54 55 Cosmic_Gene C C T C C TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 246744|4137 17 44073922 44073922 97 WT diagnosis snv DOCK7 missense A1438T NM_033407 50-PAKUIT DOCK7 MISSENSE SNP Somatic 13 0.476 SQHIGH 19 2 21 0 46 46 Cosmic_Gene C C T C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 85440 1 62973704 62973704 141 WT diagnosis snv STRIP1 missense S535P NM_033088 50-PAKUIT FAM40A MISSENSE SNP Somatic PFAM:PF11882:DUF3402 -10 0.061 SQHIGH 6 24 30 1 49 50 Cosmic_Gene T T C T T TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 85369 1 110590433 110590433 20 WT diagnosis snv TRIM58 missense C39W NM_015431 50-PAKUIT TRIM58 MISSENSE SNP Somatic 16 0.714 SQHIGH 23 23 46 0 48 48 Cosmic_Gene C C G C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 25893 1 248020665 248020665 88 WT diagnosis snv TTN missense E2904G NM_133378 50-PAKUIT TTN MISSENSE SNP Somatic PFAM:PF00047:ig -3 0.094 SQHIGH 5 16 21 0 27 27 Cosmic_Gene T T C T T TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 7273 2 179634597 179634597 19 WT diagnosis snv COL6A3 nonsense E182* NM_004369 50-PAKUIT COL6A3 INTRON,NONSENSE SNP Somatic PFAM:PF04811:Sec23_trunk 17 0.815 SQHIGH 31 33 64 0 68 68 Cosmic_Gene C C A C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 1293 2 238303395 238303395 119 WT diagnosis snv TCOF1 splice_region K1404_E25splice_region NM_000356 50-PAKUIT TCOF1 ACCEPTOR SNP Somatic -8 0.069 SQHIGH 6 22 28 2 51 53 Cosmic_Gene T T C T T TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 6949 5 149778579 149778579 17 WT diagnosis snv SYNPO silent P467P NM_007286 50-PAKUIT SYNPO SYNONYMOUS SNP Somatic 18 0.879 SQHIGH 18 19 37 0 47 47 Cosmic_Gene C C A C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 11346 5 150029238 150029238 77 WT diagnosis snv FAT2 missense R3269H NM_001447 50-PAKUIT FAT2 MISSENSE SNP Somatic 14 0.552 SQHIGH 12 19 31 2 49 51 Cosmic_Gene C C T C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 2196 5 150911153 150911153 41 WT diagnosis snv PHF3 silent K1408K NM_015153 50-PAKUIT PHF3 SYNONYMOUS SNP Somatic -5 0.083 SQHIGH 3 19 22 0 40 40 Cosmic_Gene G G A G G TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 23469 6 64421708 64421708 14 WT diagnosis snv PRSS35 missense R390H NM_001170423 50-PAKUIT PRSS35 MISSENSE SNP Somatic 20 0.978 SQHIGH 16 20 36 0 54 54 Cosmic_Gene G G A G G TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 167681 6 84234329 84234329 75 WT diagnosis snv NPSR1-AS1 EXON E2_exon NM_207172 50-PAKUIT AAA1|NPSR1 INTRON,UTR|INTRON SNP Somatic 6 0.208 SQHIGH 17 38 55 0 50 50 Cosmic_Gene G G C G G TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 404744|387129 7 34797847 34797847 54 WT diagnosis snv LPL splice_region E144_E4splice_region NM_000237 50-PAKUIT LPL ACCEPTOR SNP Somatic 5 0.187 SQHIGH 11 22 33 1 32 33 Cosmic_Gene C C A C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 4023 8 19810812 19810812 29 WT diagnosis snv CSMD3 missense S1231I NM_198123 50-PAKUIT CSMD3 MISSENSE SNP Somatic 20 0.978 SQHIGH 17 13 30 0 23 23 Cosmic_Gene C C A C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 114788 8 113649069 113649069 54 WT diagnosis snv FAM189A2 missense V86I NM_004816 50-PAKUIT FAM189A2 MISSENSE SNP Somatic 15 0.644 SQHIGH 27 14 41 0 47 47 G G A G G TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 9413 9 71992289 71992289 120 WT diagnosis snv ROR2 missense F521L NM_004560 50-PAKUIT ROR2 MISSENSE SNP Somatic PFAM:PF03109:ABC1 7 0.242 SQHIGH 17 11 28 0 45 45 Cosmic_Gene G G C G G TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 4920 9 94487213 94487213 89 WT diagnosis snv ZNF782 missense R410I NM_001001662 50-PAKUIT ZNF782 MISSENSE SNP Somatic 7 0.242 SQHIGH 17 37 54 0 55 55 C C A C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 158431 9 99581076 99581076 58 WT diagnosis snv METTL25 missense M381V NM_032230 50-PAKUIT C12orf26 MISSENSE SNP Somatic -10 0.061 SQHIGH 5 28 33 0 31 31 A A G A A TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 84190 12 82796771 82796771 15 WT diagnosis snv WDFY2 missense S249C NM_052950 50-PAKUIT WDFY2 MISSENSE SNP Somatic PFAM:PF00400:WD40 13 0.476 SQHIGH 26 33 59 0 52 52 C C G C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 115825 13 52325466 52325466 86 WT diagnosis snv TMOD3 splice_region R294_E9splice_region NM_014547 50-PAKUIT TMOD3 ACCEPTOR SNP Somatic -8 0.069 SQHIGH 3 17 20 0 34 34 Cosmic_Gene A A T A A TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 29766 15 52194079 52194079 13 WT diagnosis snv CACNA1G missense E1772K NM_018896 50-PAKUIT CACNA1G MISSENSE SNP Somatic PFAM:PF00520:Ion_trans PFAM:PF08016:PKD_channel 9 0.299 SQHIGH 10 14 24 0 48 48 Cosmic_Gene G G A G G TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 8913 17 48695591 48695591 54 WT diagnosis snv SEPT9 missense C411R NM_001113491 50-PAKUIT SEPT9 MISSENSE SNP Somatic PFAM:PF00735:Septin -5 0.083 SQHIGH 5 14 19 0 28 28 Cosmic_Gene T T C T T TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 10801 17 75484915 75484915 21 WT diagnosis snv APBA3 silent L60L NM_004886 50-PAKUIT MRPL54|APBA3 TSS-UPSTREAM|SYNONYMOUS SNP Somatic -1 0.109 SQHIGH 6 22 28 0 33 33 C C T C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 116541|9546 19 3760083 3760083 22 WT diagnosis snv ZNF845 missense K778R NM_138374 50-PAKUIT ZNF845 MISSENSE SNP Somatic -10 0.061 SQHIGH 6 16 22 1 35 36 A A G A A TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 91664 19 53856261 53856261 20 WT diagnosis snv RAD21L1 silent R54R NM_001136566 50-PAKUIT RAD21L1 SYNONYMOUS SNP Somatic PFAM:PF04825:Rad21_Rec8_N 13 0.476 SQHIGH 15 25 40 0 31 31 C C A C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 642636 20 1210539 1210539 44 WT diagnosis snv ITSN1 missense E1622G NM_003024 50-PAKUIT ITSN1 MISSENSE SNP Somatic -4 0.088 SQHIGH 8 28 36 2 40 42 Cosmic_Gene A A G A A TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 6453 21 35258612 35258612 16 WT diagnosis snv CDKL5 missense K785R NM_003159 50-PAKUIT CDKL5 MISSENSE SNP Somatic -2 0.101 SQHIGH 15 23 38 1 49 50 Cosmic_Gene A A G A A TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 6792 X 18638064 18638064 53 WT diagnosis snv DMD silent L2886L NM_004010 50-PAKUIT DMD SYNONYMOUS SNP Somatic 10 0.332 SQHIGH 16 7 23 0 27 27 Cosmic_Gene G G A G G TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 1756 X 31462655 31462655 73 WT diagnosis snv BRWD3 missense D777N NM_153252 50-PAKUIT BRWD3 MISSENSE SNP Somatic 13 0.476 SQHIGH 8 8 16 0 24 24 Cosmic_Gene C C T C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 254065 X 79965073 79965073 38 WT diagnosis snv TXNRD3NB missense E23G NM_001039783 50-PAKVET TXNRD3NB MISSENSE SNP Somatic -33 0.004 4 18 22 0 25 25 T T C T T TARGET-50-PAKVET-01A-01D TARGET-50-PAKVET-11A-01D 645840 3 126291319 126291319 14 WT diagnosis snv SRRT silent R833R NM_015908 50-PAKVET SRRT SYNONYMOUS SNP Somatic PFAM:PF04959:ARS2 -5 0.082 SQHIGH 7 27 34 2 57 59 Cosmic_Gene A A G A A TARGET-50-PAKVET-01A-01D TARGET-50-PAKVET-11A-01D 51593 7 100485948 100485948 20 WT diagnosis snv SLC12A3 silent S833S NM_000339 50-PAKVET SLC12A3 SYNONYMOUS SNP Somatic 11 0.418 SQHIGH 12 20 32 0 49 49 Cosmic_Gene G G A G G TARGET-50-PAKVET-01A-01D TARGET-50-PAKVET-11A-01D 6559 16 56926917 56926917 55 WT diagnosis snv ZNF880 missense A442G NM_001145434 50-PAKVET ZNF880 MISSENSE SNP Somatic -2 0.108 SQHIGH 8 24 32 1 30 31 C C G C C TARGET-50-PAKVET-01A-01D TARGET-50-PAKVET-11A-01D 400713 19 52888158 52888158 18 WT diagnosis snv OPN1LW missense A298P NM_020061 50-PAKVET OPN1LW MISSENSE SNP dbsnp.86:rs1065440 Somatic PFAM:PF00001:7tm_1 -33 0.004 4 44 48 0 92 92 G G C G G TARGET-50-PAKVET-01A-01D TARGET-50-PAKVET-11A-01D 5956 X 153421916 153421916 19 WT diagnosis snv ATF3 missense A101S NM_001674 50-PAKWPM ATF3 SYNONYMOUS,INTRON,MISSENSE SNP Somatic 7 0.243 SQHIGH 21 36 57 0 40 40 G G T G G TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 467 1 212791529 212791529 57 WT diagnosis snv GAL3ST2 missense C116F NM_022134 50-PAKWPM GAL3ST2 MISSENSE SNP Somatic PFAM:PF03567:Sulfotransfer_2 -6 0.073 SQHIGH 3 12 15 0 40 40 G G T G G TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 64090 2 242741423 242741423 18 WT diagnosis snv WDFY3 splice_region Q1354_E24splice_region NM_014991 50-PAKWPM WDFY3 DONOR SNP Somatic 18 0.883 SQHIGH 14 8 22 0 25 25 Cosmic_Gene C C A C C TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 23001 4 85707127 85707127 60 WT diagnosis snv GALNTL6 missense D302Y NM_001034845 50-PAKWPM GALNTL6 MISSENSE SNP Somatic 15 0.650 SQHIGH 25 27 52 0 63 63 Cosmic_Gene G G T G G TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 442117 4 173734855 173734855 104 WT diagnosis snv PARK2 missense D62V NM_004562 50-PAKWPM PARK2 INTRON,MISSENSE SNP Somatic -5 0.079 SQHIGH 5 17 22 1 39 40 Cosmic_Gene T T A T T TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 5071 6 162683784 162683784 17 WT diagnosis snv HAS2 missense V171L NM_005328 50-PAKWPM HAS2 MISSENSE SNP Somatic 17 0.834 SQHIGH 36 29 65 0 61 61 Cosmic_Gene C C A C C TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 3037 8 122641070 122641070 132 WT diagnosis snv ANKRD30A silent K604K NM_052997 50-PAKWPM ANKRD30A SYNONYMOUS SNP dbsnp.127:rs41276128 Somatic -3 0.092 SQHIGH 4 17 21 0 24 24 Cosmic_Gene A A G A A TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 91074 10 37451754 37451754 14 WT diagnosis snv MRGPRX2 silent T125T NM_054030 50-PAKWPM MRGPRX2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 15 0.650 SQHIGH 26 25 51 0 49 49 Cosmic_Gene G G A G G TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 117194 11 19077575 19077575 95 WT diagnosis snv OR5T2 silent L254L NM_001004746 50-PAKWPM OR5T2 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 11 0.377 SQHIGH 10 24 34 0 48 48 Cosmic_Gene C C A C C TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 219464 11 55999900 55999900 42 WT diagnosis snv NPAS4 silent T505T NM_178864 50-PAKWPM NPAS4 SYNONYMOUS SNP Somatic 14 0.563 SQHIGH 27 22 49 0 78 78 C C A C C TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 266743 11 66191876 66191876 138 WT diagnosis snv NXPE4 missense S152A NM_001077639 50-PAKWPM FAM55D INTRON,MISSENSE SNP Somatic PFAM:PF06312:Neurexophilin 2 0.144 SQHIGH 4 25 29 0 81 81 Cosmic_Gene A A C A A TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 54827 11 114453386 114453386 24 WT diagnosis snv ARHGAP9 missense V96I NM_032496 50-PAKWPM ARHGAP9 TSS-UPSTREAM,MISSENSE SNP Somatic -24 0.013 5 45 50 0 69 69 Cosmic_Gene C C T C C TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 64333 12 57872904 57872904 19 WT diagnosis snv GPR139 missense R293C NM_001002911 50-PAKWPM GPR139 MISSENSE SNP Somatic PFAM:PF10320:7TM_GPCR_Srsx 11 0.377 SQHIGH 24 26 50 0 58 58 Cosmic_Gene G G A G G TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 124274 16 20043242 20043242 97 WT diagnosis snv EDC4 silent S1033S NM_014329 50-PAKWPM EDC4|NRN1L SYNONYMOUS|TSS-UPSTREAM SNP Somatic -6 0.073 SQHIGH 4 27 31 0 53 53 Cosmic_Gene A A G A A TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 23644|123904 16 67915951 67915951 18 WT diagnosis snv HIF3A missense P392L NM_152794 50-PAKWPM HIF3A MISSENSE SNP Somatic 19 0.944 SQHIGH 21 16 37 0 55 55 Cosmic_Gene C C T C C TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 64344 19 46825069 46825069 103 WT diagnosis snv PTGIR missense C147Y NM_000960 50-PAKWPM PTGIR MISSENSE SNP Somatic PFAM:PF00001:7tm_1 PFAM:PF10320:7TM_GPCR_Srsx 3 0.157 SQHIGH 7 33 40 1 45 46 C C T C C TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 5739 19 47127043 47127043 18 WT diagnosis snv SIGLEC10 missense V494L NM_033130 50-PAKWPM SIGLEC10|LOC100129083 INTRON,MISSENSE|TSS-UPSTREAM SNP Somatic 9 0.301 SQHIGH 8 10 18 0 27 27 Cosmic_Gene C C G C C TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 89790|100129083 19 51918213 51918213 37 WT diagnosis snv ZNF845 silent Y411Y NM_138374 50-PAKWPM ZNF845 SYNONYMOUS SNP Somatic -6 0.073 SQHIGH 10 37 47 2 39 41 T T C T T TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 91664 19 53855161 53855161 16 WT diagnosis snv C22orf42 missense I151M NM_001010859 50-PAKWPM C22orf42 MISSENSE SNP Somatic -3 0.092 SQHIGH 9 18 27 2 80 82 Cosmic_Gene T T C T T TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 150297 22 32547486 32547486 44 WT diagnosis snv LARGE missense R450G NM_004737 50-PAKWPM LARGE MISSENSE SNP Somatic 13 0.486 SQHIGH 16 5 21 0 49 49 Cosmic_Gene G G C G G TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 9215 22 33712174 33712174 111 WT diagnosis mnv KIF1A frameshift Q1171fs NM_004321 50-PAKWPM KIF1A SPAN3 Sub Somatic PFAM:PF12473:DUF3694 -9 0.280 SQHIGH 7 20 27 0 77 77 Cosmic_Gene CCT CCT TCA CCT CCT TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 547 2 241679714 241679716 44 WT diagnosis snv CFAP74 missense L221Q NM_001080484 50-PAKYFC CFAP74 MISSENSE SNP Somatic -10 0.055 SQHIGH 5 47 52 0 49 49 Cosmic_Gene A A T A A TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 85452 1 1905476 1905476 15 WT diagnosis snv PUM2 missense A339P NM_015317 50-PAKYFC PUM2 MISSENSE SNP Somatic -10 0.055 SQHIGH 4 12 16 1 28 29 Cosmic_Gene C C G C C TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 23369 2 20494274 20494274 13 WT diagnosis snv RNF180 silent C34C NM_001113561 50-PAKYFC RNF180 SYNONYMOUS SNP Somatic -5 0.081 SQHIGH 6 23 29 0 31 31 T T C T T TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 285671 5 63496736 63496736 20 WT diagnosis snv GPR126 silent N309N NM_020455 50-PAKYFC GPR126 SYNONYMOUS SNP Somatic PFAM:PF00354:Pentaxin -4 0.088 SQHIGH 6 33 39 0 31 31 Cosmic_Gene C C T C C TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 57211 6 142691788 142691788 16 WT diagnosis snv PCLO missense P3900H NM_033026 50-PAKYFC PCLO MISSENSE SNP Somatic 4 0.185 SQHIGH 14 62 76 0 87 87 Cosmic_Gene G G T G G TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 27445 7 82545603 82545603 49 WT diagnosis snv DCHS1 missense D1867E NM_003737 50-PAKYFC DCHS1 MISSENSE SNP Somatic -1 0.116 SQHIGH 5 23 28 1 40 41 Cosmic_Gene A A C A A TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 8642 11 6648669 6648669 14 WT diagnosis snv DCHS1 missense E1866V NM_003737 50-PAKYFC DCHS1 MISSENSE SNP Somatic -9 0.059 SQHIGH 5 22 27 1 43 44 Cosmic_Gene T T A T T TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 8642 11 6648673 6648673 16 WT diagnosis snv ADAMTS20 missense R653H NM_025003 50-PAKYFC ADAMTS20 MISSENSE SNP Somatic -2 0.105 SQHIGH 12 26 38 1 22 23 Cosmic_Gene C C T C C TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 80070 12 43846198 43846198 20 WT diagnosis snv MYBPC2 silent D177D NM_004533 50-PAKYFC MYBPC2 SYNONYMOUS SNP Somatic 2 0.153 SQHIGH 42 104 146 0 111 111 Cosmic_Gene T T C T T TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 4606 19 50940934 50940934 116 WT diagnosis snv AMER1 nonsense R358* NM_152424 50-PAKYFC FAM123B NONSENSE SNP dbsnp.133:rs137852217 Somatic PFAM:PF09422:WTX 15 0.710 SQHIGH 38 27 65 2 57 59 COSMIC:mut:22960 Cosmic_Gene G G A G G TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 139285 X 63412095 63412095 113 WT diagnosis mnv CBS missense P282_E283>HP NM_000071 50-PAKYFC CBS MISSENSE Sub Somatic -9 0.307 SQHIGH 12 55 67 1 59 60 TCGG TCGG GGAT TCGG TCGG TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 875 21 44483169 44483172 27 WT diagnosis snv TNFRSF8 silent P371P NM_001243 50-PAKZER TNFRSF8 SYNONYMOUS,TSS-UPSTREAM SNP Somatic 19 0.962 SQHIGH 20 13 33 0 41 41 Cosmic_Gene C C A C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 943 1 12183844 12183844 90 WT diagnosis snv PLEKHM2 splice_region K126_E5splice_region NM_015164 50-PAKZER PLEKHM2 ACCEPTOR SNP Somatic 6 0.293 SQHIGH 17 12 29 0 15 15 Cosmic_Gene G G C G G TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 23207 1 16045024 16045024 41 WT diagnosis snv OBSCN missense R57C NM_052843 50-PAKZER OBSCN MISSENSE SNP Somatic PFAM:PF00047:ig 10 0.424 SQHIGH 6 7 13 0 24 24 Cosmic_Gene C C T C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 84033 1 228399653 228399653 31 WT diagnosis snv DNAH7 missense S207C NM_018897 50-PAKZER DNAH7 MISSENSE SNP Somatic -3 0.120 SQHIGH 5 12 17 0 18 18 Cosmic_Gene G G C G G TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 56171 2 196891531 196891531 17 WT diagnosis snv KIAA0232 silent T954T NM_014743 50-PAKZER KIAA0232 SYNONYMOUS SNP Somatic 11 0.464 SQHIGH 25 13 38 0 38 38 Cosmic_Gene A A C A A TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 9778 4 6864971 6864971 102 WT diagnosis snv HAND2 missense D132N NM_021973 50-PAKZER HAND2|NBLA00301 MISSENSE|TSS-UPSTREAM SNP Somatic 6 0.293 SQHIGH 11 21 32 1 42 43 Cosmic_Gene C C T C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 9464|79804 4 174450047 174450047 37 WT diagnosis snv PAIP1 silent L316L NM_006451 50-PAKZER PAIP1 SYNONYMOUS SNP Somatic PFAM:PF02854:MIF4G 9 0.386 SQHIGH 10 15 25 1 34 35 Cosmic_Gene T T C T T TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 10605 5 43536945 43536945 35 WT diagnosis snv ZNF292 missense T2394A NM_015021 50-PAKZER ZNF292 MISSENSE SNP Somatic 7 0.323 SQHIGH 7 19 26 0 27 27 Cosmic_Gene A A G A A TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 23036 6 87970527 87970527 24 WT diagnosis snv REPIN1 silent S422S NM_013400 50-PAKZER REPIN1 SYNONYMOUS SNP Somatic 6 0.293 SQHIGH 22 51 73 1 31 32 Cosmic_Gene G G A G G TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 29803 7 150069596 150069596 30 WT diagnosis snv SCRIB silent L619L NM_182706 50-PAKZER SCRIB SYNONYMOUS SNP Somatic 6 0.293 SQHIGH 16 21 37 0 31 31 Cosmic_Gene C C A C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 23513 8 144891037 144891037 51 WT diagnosis snv ADARB2 silent A303A NM_018702 50-PAKZER ADARB2 SYNONYMOUS SNP Somatic PFAM:PF00035:dsrm -10 0.067 SQHIGH 9 9 18 0 18 18 Cosmic_Gene C C T C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 105 10 1405391 1405391 33 WT diagnosis snv MUC6 splice_region Q995_E23splice_region NM_005961 50-PAKZER MUC6 DONOR SNP Somatic 16 0.766 SQHIGH 10 16 26 0 38 38 Cosmic_Gene G G A G G TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 4588 11 1025177 1025177 45 WT diagnosis snv IGF2 missense K120Q NM_000612 50-PAKZER INS-IGF2|IGF2 UTR|MISSENSE SNP Somatic PFAM:PF08365:IGF2_C 6 0.293 SQHIGH 4 15 19 0 51 51 Cosmic_Gene T T G T T TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 723961|3481 11 2154402 2154402 24 WT diagnosis snv ST5 missense R565Q NM_005418 50-PAKZER ST5 MISSENSE SNP dbsnp.134:rs144868309 Somatic 20 0.998 SQHIGH 18 13 31 0 42 42 Cosmic_Gene C C T C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 6764 11 8737301 8737301 84 WT diagnosis snv MRGPRX2 silent L233L NM_054030 50-PAKZER MRGPRX2 SYNONYMOUS SNP Somatic -2 0.132 SQHIGH 4 11 15 0 18 18 Cosmic_Gene G G C G G TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 117194 11 19077251 19077251 15 WT diagnosis snv OR4C12 silent V162V NM_001005270 50-PAKZER OR4C12 SYNONYMOUS SNP Somatic PFAM:PF00001:7tm_1 18 0.903 SQHIGH 23 13 36 0 38 38 Cosmic_Gene T T G T T TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 283093 11 50003552 50003552 96 WT diagnosis snv OR5F1 silent A302A NM_003697 50-PAKZER OR5F1 SYNONYMOUS SNP Somatic 18 0.903 SQHIGH 15 11 26 0 35 35 Cosmic_Gene C C T C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 338674 11 55761196 55761196 70 WT diagnosis snv LRIG3 silent L229L NM_001136051 50-PAKZER LRIG3 SYNONYMOUS SNP Somatic 12 0.513 SQHIGH 7 20 27 0 25 25 Cosmic_Gene C C A C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 121227 12 59282191 59282191 22 WT diagnosis snv MLLT6 silent H727H NM_005937 50-PAKZER MLLT6 SYNONYMOUS SNP Somatic -4 0.110 SQHIGH 7 6 13 0 18 18 Cosmic_Gene C C T C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 4302 17 36876650 36876650 32 WT diagnosis snv GREB1L missense D1775N NM_001142966 50-PAKZER GREB1L MISSENSE SNP Somatic 17 0.855 SQHIGH 17 17 34 0 46 46 G G A G G TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 80000 18 19098046 19098046 76 WT diagnosis snv CCDC9 missense R259Q NM_015603 50-PAKZER CCDC9 MISSENSE SNP Somatic 14 0.635 SQHIGH 10 25 35 0 23 23 G G A G G TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 26093 19 47769923 47769923 25 WT diagnosis snv FRMPD4 silent S312S NM_014728 50-PAKZER FRMPD4 SYNONYMOUS SNP Somatic PFAM:PF00373:FERM_M 15 0.704 SQHIGH 10 21 31 0 41 41 Cosmic_Gene T T C T T TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 9758 X 12719995 12719995 41 WT diagnosis snv ZMAT1 missense D569N NM_001011657 50-PAKZER ZMAT1 MISSENSE,UTR SNP Somatic 20 0.998 SQHIGH 12 16 28 0 43 43 Cosmic_Gene C C T C C TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 84460 X 101138694 101138694 56 WT diagnosis snv IDH3G missense S150C NM_004135 50-PAKZER IDH3G MISSENSE SNP Somatic PFAM:PF00180:Iso_dh 12 0.513 SQHIGH 11 16 27 1 49 50 T T A T T TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 3421 X 153053370 153053370 47 WT diagnosis mnv TPCN2 missense Q423_A425>HVS NM_139075 50-PAKZER TPCN2|MIR3164 MISSENSE|TSS-UPSTREAM Sub Somatic -10 0.300 SQHIGH 7 31 38 0 55 55 GAGCG GAGCG TGTCT GAGCG GAGCG TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 219931|100422846 11 68845988 68845992 29 WT diagnosis mnv SETD1B missense E597R NM_015048 50-PAKZER SETD1B MISSENSE Sub Somatic -10 0.300 SQHIGH 5 22 27 0 26 26 Cosmic_Gene GA GA CG GA GA TARGET-50-PAKZER-01A-01D TARGET-50-PAKZER-10A-01D 23067 12 122248640 122248641 16 WT diagnosis snv C14orf183 silent A36A NM_001014830 50-PAKZFK C14orf183 SYNONYMOUS SNP Somatic 2 0.148 SQHIGH 5 34 39 0 33 33 A A G A A TARGET-50-PAKZFK-01A-01D TARGET-50-PAKZFK-11A-01D 196913 14 50558460 50558460 14 WT diagnosis snv MAX missense R60Q NM_002382 50-PAKZFK MAX INTRON,MISSENSE SNP Somatic 10 0.353 SQHIGH 15 28 43 0 50 50 Cosmic_Gene C C T C C TARGET-50-PAKZFK-01A-01D TARGET-50-PAKZFK-11A-01D 4149 14 65544747 65544747 57 WT diagnosis snv DGCR8 missense E518K NM_022720 50-PAKZFK DGCR8 MISSENSE SNP Somatic PFAM:PF00035:dsrm 16 0.761 SQHIGH 44 2 46 0 98 98 G A A G G TARGET-50-PAKZFK-01A-01D TARGET-50-PAKZFK-11A-01D 54487 22 20079439 20079439 343 WT diagnosis snv KPNA1 silent L304L NM_002264 50-PAKZHF KPNA1 SYNONYMOUS,UTR SNP Somatic 3 0.156 SQHIGH 4 18 22 0 25 25 C C A C C TARGET-50-PAKZHF-01A-01D TARGET-50-PAKZHF-11A-01D 3836 3 122168426 122168426 14 WT diagnosis snv PDS5A splice_region R331_E9splice_region NM_001100399 50-PAKZHF PDS5A DONOR SNP Somatic -2 0.098 SQHIGH 6 30 36 0 37 37 C C G C C TARGET-50-PAKZHF-01A-01D TARGET-50-PAKZHF-11A-01D 23244 4 39915226 39915226 19 WT diagnosis snv DROSHA nonsense R414* NM_013235 50-PAKZHF DROSHA NONSENSE SNP Somatic 13 0.494 SQHIGH 23 33 56 0 64 64 Cosmic_Gene G G A G G TARGET-50-PAKZHF-01A-01D TARGET-50-PAKZHF-11A-01D 29102 5 31515145 31515145 89 WT diagnosis snv DROSHA nonsense Q46* NM_013235 50-PAKZHF DROSHA NONSENSE SNP Somatic 3 0.156 SQHIGH 25 7 32 0 20 20 Cosmic_Gene G G A G G TARGET-50-PAKZHF-01A-01D TARGET-50-PAKZHF-11A-01D 29102 5 31526904 31526904 82 WT diagnosis snv CDC20B missense I381V NM_152623 50-PAKZHF CDC20B MISSENSE SNP Somatic PFAM:PF00400:WD40 -7 0.066 SQHIGH 4 19 23 0 24 24 T T C T T TARGET-50-PAKZHF-01A-01D TARGET-50-PAKZHF-11A-01D 166979 5 54420705 54420705 13 WT diagnosis snv CLIP2 silent Q1003Q NM_003388 50-PAKZHF CLIP2 SYNONYMOUS SNP Somatic -6 0.071 SQHIGH 5 27 32 0 23 23 Cosmic_Gene G G A G G TARGET-50-PAKZHF-01A-01D TARGET-50-PAKZHF-11A-01D 7461 7 73814828 73814828 12 WT diagnosis snv RECQL4 missense R522H NM_004260 50-PAKZHF LRRC14|RECQL4 TSS-UPSTREAM|MISSENSE SNP dbsnp.126:rs35842750 Somatic 12 0.436 SQHIGH 18 26 44 0 50 50 Cosmic_Gene C C T C C TARGET-50-PAKZHF-01A-01D TARGET-50-PAKZHF-11A-01D 9684|9401 8 145740375 145740375 69 WT diagnosis snv WFDC1 missense R177H NM_021197 50-PAKZHF WFDC1 MISSENSE SNP Somatic 12 0.436 SQHIGH 15 30 45 0 61 61 Cosmic_Gene G G A G G TARGET-50-PAKZHF-01A-01D TARGET-50-PAKZHF-11A-01D 58189 16 84353145 84353145 63 WT diagnosis snv NR4A2 splice F387_E6splice NM_006186 50-PALDWP NR4A2 DISRUPT SNP Somatic 10 0.385 SQHIGH 16 31 47 1 36 37 Cosmic_Gene C C A C C TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 4929 2 157183433 157183433 36 WT diagnosis snv MAP3K4 missense G1366R NM_005922 50-PALDWP MAP3K4 MISSENSE SNP Somatic 1 0.156 SQHIGH 16 13 29 0 31 31 Cosmic_Gene G G A G G TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 4216 6 161528978 161528978 63 WT diagnosis snv GRM3 missense R290H NM_000840 50-PALDWP GRM3 MISSENSE SNP Somatic -10 0.061 SQHIGH 4 25 29 0 40 40 Cosmic_Gene G G A G G TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 2913 7 86415977 86415977 16 WT diagnosis snv GPR124 silent L346L NM_032777 50-PALDWP GPR124 SYNONYMOUS SNP Somatic 6 0.256 SQHIGH 25 25 50 1 51 52 Cosmic_Gene C C T C C TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 25960 8 37689044 37689044 83 WT diagnosis snv WNK2 silent A850A NM_006648 50-PALDWP WNK2 SYNONYMOUS SNP dbsnp.134:rs139516112 Somatic -4 0.098 SQHIGH 9 36 45 2 52 54 Cosmic_Gene G G A G G TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 65268 9 96021380 96021380 19 WT diagnosis snv FLRT2 silent T660T NM_013231 50-PALDWP FLRT2 SYNONYMOUS SNP Somatic -36 0.002 3 8 11 0 22 22 Cosmic_Gene G G C G G TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 23768 14 86089838 86089838 15 WT diagnosis snv SPG7 missense D190N NM_003119 50-PALDWP SPG7 MISSENSE SNP Somatic 7 0.283 SQHIGH 24 32 56 0 67 67 G G A G G TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 6687 16 89590605 89590605 97 WT diagnosis snv HMOX1 missense R237H NM_002133 50-PALDWP HMOX1 MISSENSE SNP Somatic -4 0.098 SQHIGH 8 17 25 0 26 26 Cosmic_Gene G G A G G TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 3162 22 35785930 35785930 28 WT diagnosis snv AMER1 nonsense R358* NM_152424 50-PALDWP FAM123B NONSENSE SNP dbsnp.133:rs137852217 Somatic PFAM:PF09422:WTX 19 0.956 SQHIGH 25 3 28 0 35 35 COSMIC:mut:22960 Cosmic_Gene G A G TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 139285 X 63412095 63412095 139 WT diagnosis snv ASIC4 silent R60R NM_182847 50-PALERC LOC100507611|ACCN4 INTRON|SYNONYMOUS SNP Somatic -9 0.059 SQHIGH 6 8 14 0 18 18 Cosmic_Gene A A C A A TARGET-50-PALERC-01A-01D TARGET-50-PALERC-11A-01D 100507611|55515 2 220379243 220379243 25 WT diagnosis snv ARHGAP31 missense A582T NM_020754 50-PALERC ARHGAP31 MISSENSE SNP Somatic 17 0.860 SQHIGH 26 19 45 1 54 55 Cosmic_Gene G G A G G TARGET-50-PALERC-01A-01D TARGET-50-PALERC-11A-01D 57514 3 119128441 119128441 101 WT diagnosis snv WDR19 nonsense G109* NM_025132 50-PALERC WDR19 NONSENSE SNP Somatic PFAM:PF00400:WD40 -6 0.075 SQHIGH 4 33 37 0 46 46 Cosmic_Gene G G T G G TARGET-50-PALERC-01A-01D TARGET-50-PALERC-11A-01D 57728 4 39196198 39196198 14 WT diagnosis snv TMPRSS11E missense A351T NM_014058 50-PALERC TMPRSS11E MISSENSE SNP Somatic 8 0.277 SQHIGH 8 10 18 0 21 21 Cosmic_Gene G G A G G TARGET-50-PALERC-01A-01D TARGET-50-PALERC-11A-01D 28983 4 69344650 69344650 31 WT diagnosis snv ALKBH5 missense G159S NM_017758 50-PALERC ALKBH5 MISSENSE SNP Somatic -8 0.063 SQHIGH 4 28 32 0 45 45 G G A G G TARGET-50-PALERC-01A-01D TARGET-50-PALERC-11A-01D 54890 17 18088032 18088032 16 WT diagnosis snv LIPE missense E349A NM_005357 50-PALERC LIPE MISSENSE SNP Somatic PFAM:PF06350:HSL_N 3 0.161 SQHIGH 5 27 32 0 24 24 Cosmic_Gene T T G T T TARGET-50-PALERC-01A-01D TARGET-50-PALERC-11A-01D 3991 19 42914832 42914832 13 WT diagnosis snv ZC3H4 nonsense R250* NM_015168 50-PALERC ZC3H4 NONSENSE SNP Somatic 12 0.443 SQHIGH 24 22 46 0 42 42 Cosmic_Gene G G A G G TARGET-50-PALERC-01A-01D TARGET-50-PALERC-11A-01D 23211 19 47589763 47589763 85 WT diagnosis snv GK missense G545R NM_001128127 50-PALERC GK INTRON,MISSENSE SNP Somatic -2 0.103 SQHIGH 5 11 16 0 20 20 Cosmic_Gene G G A G G TARGET-50-PALERC-01A-01D TARGET-50-PALERC-11A-01D 2710 X 30745651 30745651 19 WT diagnosis snv VWA7 missense G387V NM_025258 50-PALEZT C6orf27 MISSENSE SNP Somatic 11 0.442 SQHIGH 27 34 61 0 53 53 Cosmic_Gene C C A C C TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 80737 6 31737818 31737818 88 WT diagnosis snv OCM2 missense A15V NM_006188 50-PALEZT OCM2 MISSENSE SNP Somatic 17 0.855 SQHIGH 13 14 27 0 25 25 G G A G G TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 4951 7 97619373 97619373 45 WT diagnosis snv PARD3 missense I125T NM_019619 50-PALEZT PARD3 MISSENSE SNP Somatic PFAM:PF12053:DUF3534 9 0.358 SQHIGH 16 28 44 0 40 40 Cosmic_Gene A A G A A TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 56288 10 34805936 34805936 52 WT diagnosis snv CORO7 silent L744L NM_024535 50-PALEZT CORO7|CORO7-PAM16 SYNONYMOUS|SYNONYMOUS SNP Somatic PFAM:PF08954:DUF1900 16 0.762 SQHIGH 12 24 36 0 33 33 G G A G G TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 79585|100529144 16 4409501 4409501 38 WT diagnosis snv SALL1 missense A951T NM_002968 50-PALEZT SALL1 MISSENSE SNP Somatic 15 0.694 SQHIGH 32 27 59 0 64 64 Cosmic_Gene C C T C C TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 6299 16 51173282 51173282 128 WT diagnosis snv SLC35B1 silent V31V NM_005827 50-PALEZT SLC35B1 UTR5 SNP Somatic -1 0.134 SQHIGH 7 28 35 0 30 30 G G C G G TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 10237 17 47785214 47785214 20 WT diagnosis snv SPO11 silent T148T NM_012444 50-PALEZT SPO11 SYNONYMOUS SNP dbsnp.123:rs16980893 Somatic PFAM:PF04406:TP6A_N -1 0.134 SQHIGH 8 5 13 0 10 10 Cosmic_Gene T T G T T TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 23626 20 55909085 55909085 26 WT diagnosis snv DEPDC5 nonsense Q876* NM_014662 50-PALEZT DEPDC5 NONSENSE SNP Somatic 12 0.495 SQHIGH 12 2 14 0 32 32 Cosmic_Gene C C T C C TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 9681 22 32239650 32239650 86 WT diagnosis snv MTOR missense H2480P NM_004958 50-PALGAZ MTOR MISSENSE SNP Somatic -6 0.083 SQHIGH 9 23 32 0 37 37 Cosmic_Gene T T G T T TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 2475 1 11169714 11169714 33 WT diagnosis snv GPATCH3 missense L320V NM_022078 50-PALGAZ GPATCH3|GPN2 MISSENSE|TSS-UPSTREAM SNP Somatic 17 0.859 SQHIGH 35 29 64 0 69 69 G G C G G TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 63906|54707 1 27220820 27220820 140 WT diagnosis snv PRUNE missense E131Q NM_021222 50-PALGAZ PRUNE MISSENSE SNP Somatic PFAM:PF01368:DHH 10 0.395 SQHIGH 55 30 85 0 70 70 Cosmic_Gene G G C G G TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 58497 1 150997142 150997142 197 WT diagnosis snv PPP1R3A missense R829K NM_002711 50-PALGAZ PPP1R3A MISSENSE SNP Somatic 16 0.762 SQHIGH 27 22 49 0 52 52 Cosmic_Gene C C T C C TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 5506 7 113518661 113518661 107 WT diagnosis snv DLC1 splice_region E450_E6splice_region NM_182643 50-PALGAZ DLC1 ACCEPTOR SNP Somatic 9 0.357 SQHIGH 20 13 33 0 27 27 Cosmic_Gene G G T G G TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 10395 8 12973170 12973170 69 WT diagnosis snv TLN1 splice_region R1652_E37splice_region NM_006289 50-PALGAZ TLN1 DONOR SNP Somatic 16 0.762 SQHIGH 17 21 38 0 49 49 Cosmic_Gene A A G A A TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 7094 9 35707065 35707065 72 WT diagnosis snv TSC22D1 missense L41F NM_183422 50-PALGAZ LOC641467|TSC22D1 UTR|MISSENSE SNP Somatic 11 0.440 SQHIGH 31 20 51 0 31 31 G G A G G TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 641467|8848 13 45150090 45150090 87 WT diagnosis snv ANKRD11 missense S300T NM_013275 50-PALGAZ ANKRD11 MISSENSE SNP Somatic 17 0.859 SQHIGH 20 28 48 0 54 54 Cosmic_Gene A A T A A TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 29123 16 89352052 89352052 77 WT diagnosis snv FAM83G silent R126R NM_001039999 50-PALGAZ SLC5A10|FAM83G INTRON|SYNONYMOUS SNP Somatic PFAM:PF07894:DUF1669 -1 0.131 SQHIGH 8 15 23 1 37 38 Cosmic_Gene G G A G G TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 125206|644815 17 18906977 18906977 30 WT diagnosis snv MTFP1 missense P6S NM_016498 50-PALGAZ MTFP1 MISSENSE SNP Somatic 10 0.395 SQHIGH 15 15 30 0 29 29 C C T C C TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 51537 22 30821883 30821883 54 WT diagnosis snv FAM19A5 missense I61T NM_001082967 50-PALGAZ FAM19A5 MISSENSE SNP Somatic PFAM:PF12020:TAFA -3 0.106 SQHIGH 6 21 27 2 45 47 Cosmic_Gene T T C T T TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 25817 22 49042478 49042478 16 WT diagnosis snv MYCN missense P44L NM_005378 50-PALGVY MYCNOS|MYCN TSS-UPSTREAM|MISSENSE SNP Somatic PFAM:PF01056:Myc_N 8 0.317 SQHIGH 24 28 52 1 49 50 COSMIC:mut:35624 Cosmic_Gene C C T C C TARGET-50-PALGVY-01A-01D TARGET-50-PALGVY-10A-01D 10408|4613 2 16082317 16082317 73 WT diagnosis snv TMEM214 splice_region L385_E10splice_region NM_017727 50-PALGVY TMEM214 ACCEPTOR SNP Somatic 1 0.158 SQHIGH 5 22 27 0 19 19 T T A T T TARGET-50-PALGVY-01A-01D TARGET-50-PALGVY-10A-01D 54867 2 27261009 27261009 12 WT diagnosis snv HIST1H1C silent L107L NM_005319 50-PALGVY HIST1H1C SYNONYMOUS SNP Somatic 12 0.489 SQHIGH 17 23 40 2 49 51 Cosmic_Gene G G A G G TARGET-50-PALGVY-01A-01D TARGET-50-PALGVY-10A-01D 3006 6 26056336 26056336 52 WT diagnosis snv DUSP26 missense V91I NM_024025 50-PALGVY DUSP26 MISSENSE SNP Somatic PFAM:PF00782:DSPc 14 0.620 SQHIGH 32 27 59 0 54 54 C C T C C TARGET-50-PALGVY-01A-01D TARGET-50-PALGVY-10A-01D 78986 8 33451216 33451216 115 WT diagnosis snv PLEC missense P109L NM_201380 50-PALGVY PLEC INTRON,MISSENSE SNP Somatic -6 0.084 SQHIGH 6 25 31 0 25 25 Cosmic_Gene G G A G G TARGET-50-PALGVY-01A-01D TARGET-50-PALGVY-10A-01D 5339 8 145024549 145024549 16 WT diagnosis snv CYB5R2 missense T269A NM_016229 50-PALGVY CYB5R2 MISSENSE SNP Somatic 0 0.144 SQHIGH 13 18 31 0 32 32 T T C T T TARGET-50-PALGVY-01A-01D TARGET-50-PALGVY-10A-01D 51700 11 7686631 7686631 47 WT diagnosis snv BAZ2A missense I645F NM_013449 50-PALGVY BAZ2A MISSENSE SNP Somatic 10 0.393 SQHIGH 23 26 49 0 38 38 T T A T T TARGET-50-PALGVY-01A-01D TARGET-50-PALGVY-10A-01D 11176 12 57003685 57003685 70 WT diagnosis snv IGLL5 missense A176D NM_001178126 50-PALGVY IGLL5 MISSENSE,UTR SNP Somatic -1 0.131 SQHIGH 8 55 63 1 49 50 C C A C C TARGET-50-PALGVY-01A-01D TARGET-50-PALGVY-10A-01D 100423062 22 23237756 23237756 14 WT diagnosis snv USP34 nonsense E573* NM_014709 50-PALKCW USP34 NONSENSE SNP Somatic -5 0.056 SQHIGH 4 26 30 0 35 35 Cosmic_Gene C C A C C TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 9736 2 61575573 61575573 14 WT diagnosis snv TUBA4A missense R264G NM_006000 50-PALKCW TUBA4B|TUBA4A TSS-UPSTREAM|MISSENSE SNP Somatic -4 0.060 SQHIGH 6 50 56 0 49 49 Cosmic_Gene G G C G G TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 80086|7277 2 220115631 220115631 17 WT diagnosis snv DROSHA missense D1151A NM_013235 50-PALKCW DROSHA MISSENSE SNP Somatic 17 0.820 SQHIGH 20 21 41 0 42 42 Cosmic_Gene T T G T T TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 29102 5 31421452 31421452 75 WT diagnosis snv ARHGEF28 missense L819P NM_001080479 50-PALKCW ARHGEF28 MISSENSE SNP Somatic -2 0.071 SQHIGH 5 17 22 0 24 24 T T C T T TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 64283 5 73165924 73165924 17 WT diagnosis snv ATP6V1B2 missense R400Q NM_001693 50-PALKCW ATP6V1B2 MISSENSE SNP Somatic 1 0.095 SQHIGH 11 36 47 0 35 35 G G A G G TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 526 8 20074768 20074768 29 WT diagnosis snv OBP2B silent L123L NM_014581 50-PALKCW OBP2B SYNONYMOUS SNP Somatic PFAM:PF00061:Lipocalin -2 0.071 SQHIGH 10 42 52 0 49 49 G G A G G TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 29989 9 136082632 136082632 31 WT diagnosis snv COL2A1 splice G375_E19splice NM_001844 50-PALKCW COL2A1 ACCEPTOR SNP Somatic 3 0.115 SQHIGH 13 70 83 0 49 49 Cosmic_Gene G G A G G TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 1280 12 48381495 48381495 28 WT diagnosis snv LOC100130238 EXON E2_exon NM_001122636 50-PALKCW LOC100130238|GALNT9 UTR|INTRON SNP Somatic 10 0.258 SQHIGH 27 22 49 1 49 50 G G T G G TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 100130238|50614 12 132853116 132853116 92 WT diagnosis snv HSPA2 silent T301T NM_021979 50-PALKCW HSPA2 SYNONYMOUS SNP Somatic -14 0.026 4 27 31 0 34 34 Cosmic_Gene G G A G G TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 3306 14 65008470 65008470 13 WT diagnosis snv ACSBG1 silent H13H NM_015162 50-PALKCW ACSBG1 SYNONYMOUS SNP Somatic 14 0.478 SQHIGH 12 18 30 0 33 33 Cosmic_Gene G G A G G TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 23205 15 78526805 78526805 45 WT diagnosis snv TOX3 missense S563T NM_001080430 50-PALKCW TOX3 MISSENSE SNP Somatic 4 0.127 SQHIGH 4 24 28 0 38 38 A A T A A TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 27324 16 52473181 52473181 15 WT diagnosis snv RBM10 nonsense E683* NM_005676 50-PALKCW RBM10 NONSENSE SNP Somatic 19 0.935 SQHIGH 30 0 30 0 21 21 Cosmic_Gene G T G TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 8241 X 47044550 47044550 141 WT diagnosis mnv HMGB2 missense G87_K88>GR NM_002129 50-PALKCW HMGB2 MISSENSE Sub Somatic -30 0.043 7 40 47 0 59 59 CTTC CTTC TCTT CTTC CTTC TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 3148 4 174254252 174254255 26 WT diagnosis mnv KCNC1 missense Y109P NM_001112741 50-PALKCW KCNC1 MISSENSE Sub Somatic -7 0.288 SQHIGH 4 11 15 0 26 26 Cosmic_Gene TA TA CC TA TA TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 3746 11 17757874 17757875 19 WT diagnosis snv MIR5001 EXON E1_exon NM_145702 50-PALKRS EIF4E2|TIGD1 TSS-UPSTREAM|UTR5 SNP Somatic -7 0.049 SQHIGH 8 12 20 1 26 27 A A C A A TARGET-50-PALKRS-01A-01D TARGET-50-PALKRS-10A-01D 9470|200765 2 233415207 233415207 26 WT diagnosis snv AFP nonsense E17* NM_001134 50-PALKRS AFP NONSENSE SNP Somatic 12 0.564 SQHIGH 13 13 26 0 26 26 Cosmic_Gene G G T G G TARGET-50-PALKRS-01A-01D TARGET-50-PALKRS-10A-01D 174 4 74302028 74302028 48 WT diagnosis snv MDN1 missense R4149H NM_014611 50-PALKRS MDN1 MISSENSE SNP dbsnp.131:rs77256291 Somatic 8 0.346 SQHIGH 28 27 55 0 61 61 Cosmic_Gene C C T C C TARGET-50-PALKRS-01A-01D TARGET-50-PALKRS-10A-01D 23195 6 90387382 90387382 112 WT diagnosis snv INTS8 missense T216R NM_017864 50-PALKRS INTS8 MISSENSE SNP Somatic 4 0.175 SQHIGH 13 7 20 0 22 22 C C G C C TARGET-50-PALKRS-01A-01D TARGET-50-PALKRS-10A-01D 55656 8 95844296 95844296 Somatic Illumina 55 24041 21451 45552 40015 8 40082 WT diagnosis snv PAPLN missense I225T NM_173462 50-PALKRS PAPLN MISSENSE SNP Somatic PFAM:PF05986:ADAM_spacer1 9 0.391 SQHIGH 8 9 17 0 19 19 Cosmic_Gene T T C T T TARGET-50-PALKRS-01A-01D TARGET-50-PALKRS-10A-01D 89932 14 73718456 73718456 31 WT diagnosis snv SPTBN5 missense A1625T NM_016642 50-PALKRS SPTBN5 MISSENSE SNP Somatic 16 0.843 SQHIGH 14 16 30 0 56 56 Cosmic_Gene C C T C C TARGET-50-PALKRS-01A-01D TARGET-50-PALKRS-10A-01D 51332 15 42166060 42166060 Somatic Illumina 75 31857 25967 57828 56755 32 56788 WT diagnosis snv RBPJL missense R220L NM_014276 50-PALKRS RBPJL MISSENSE SNP Somatic PFAM:PF09270:Beta-trefoil 15 0.787 SQHIGH 46 30 76 1 97 98 Cosmic_Gene G G T G G TARGET-50-PALKRS-01A-01D TARGET-50-PALKRS-10A-01D 11317 20 43942147 43942147 Somatic Illumina 198 28157 24447 52659 51012 5 51031 WT diagnosis snv SLAMF7 missense T144A NM_021181 50-PALLFB SLAMF7 MISSENSE SNP Somatic 7 0.360 SQHIGH 22 18 40 2 46 48 Cosmic_Gene A A G A A TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 57823 1 160719664 160719664 Somatic Illumina 73 27283 25233 52532 67395 645 68051 WT diagnosis snv KIAA1804 missense P866L NM_032435 50-PALLFB KIAA1804 MISSENSE SNP Somatic 10 0.489 SQHIGH 30 26 56 0 46 46 Cosmic_Gene C C T C C TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 84451 1 233515349 233515349 Somatic Illumina 99 13820 12507 26330 35151 109 35262 WT diagnosis snv LRP2 missense R4165H NM_004525 50-PALLFB LRP2 MISSENSE SNP Somatic PFAM:PF00058:Ldl_recept_b 5 0.250 SQHIGH 21 79 100 1 93 94 Cosmic_Gene C C T C C TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 4036 2 170007504 170007504 Somatic Illumina 54 68596 19006 87666 117884 276 118260 WT diagnosis snv SPEG missense V1814M NM_005876 50-PALLFB SPEG MISSENSE SNP Somatic 3 0.188 SQHIGH 48 61 109 0 90 90 Cosmic_Gene G G A G G TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 10290 2 220346096 220346096 Somatic Illumina 152 6570 6701 13272 12992 68 13060 WT diagnosis snv KIAA2018 missense N573S NM_001009899 50-PALLFB KIAA2018 MISSENSE SNP Somatic 12 0.602 SQHIGH 52 32 84 0 75 75 Cosmic_Gene T T C T T TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 205717 3 113378811 113378811 Somatic Illumina 193 45479 50469 95965 113365 875 114259 WT diagnosis snv FAT4 missense G3970E NM_024582 50-PALLFB FAT4 MISSENSE SNP Somatic -39 0.000 3 9 12 0 23 23 Cosmic_Gene G G A G G TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 79633 4 126389676 126389676 15 WT diagnosis snv CHD4 missense R1105W NM_001273 50-PALLFB CHD4 MISSENSE SNP Somatic 8 0.402 SQHIGH 23 56 79 0 56 56 Cosmic_Gene G G A G G TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 1108 12 6700659 6700659 Somatic Illumina 60 46473 39176 85659 105560 696 106270 WT diagnosis snv ROGDI missense A123V NM_024589 50-PALLFB ROGDI MISSENSE SNP Somatic PFAM:PF10259:Rogdi_lz -2 0.100 SQHIGH 21 69 90 1 51 52 Cosmic_Gene G G A G G TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 79641 16 4849751 4849751 Somatic Illumina 36 35146 11212 46366 56362 100 56475 WT diagnosis snv ZNF469 missense R2616Q NM_001127464 50-PALLFB ZNF469 MISSENSE SNP Somatic 11 0.543 SQHIGH 14 22 36 0 27 27 G G A G G TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 84627 16 88501809 88501809 Somatic Illumina 40 46753 26758 73521 72218 467 72702 WT diagnosis snv TP53 missense V173M NM_000546 50-PALLFB TP53 MISSENSE SNP Somatic 17 0.914 SQHIGH 46 0 46 0 55 55 COSMIC:mut:98965,COSMIC:mut:98964,COSMIC:mut:98966,COSMIC:mut:11084 Cosmic_Gene C T T C C TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 7157 17 7578413 7578413 Somatic Illumina 291 2962 73694 76687 76798 780 77600 WT diagnosis del TP53 frameshift R158fs NM_000546 50-CAAAAA TP53 FRAMESHIFT Del Somatic 2 0.545 SQHIGH 20 7 27 1 68 69 Cosmic_Gene C C C C TARGET-50-CAAAAA-01A-01D TARGET-50-CAAAAA-10A-01D 7157 17 7578457 7578457 Somatic Illumina 131 39038 118933 158083 138146 4 138205 WT diagnosis ins BPIFB2 splice V37_E2splice NM_025227 50-CAAAAB SUN5|BPIFB2 TSS-UPSTREAM|DONOR Ins Somatic -5 0.342 SQHIGH 40 85 136 1 79 85 Cosmic_Gene A TARGET-50-CAAAAB-01A-01D TARGET-50-CAAAAB-11A-01D 140732|80341 20 31596491 31596491 Somatic Illumina 86 44156 19507 63773 61261 0 61381 WT diagnosis del EVC frameshift A701fs NM_153717 50-CAAAAC EVC FRAMESHIFT Del Somatic -4 0.294 SQHIGH 49 30 79 0 27 27 Cosmic_Gene G G G G TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 2121 4 5800318 5800318 Somatic Illumina 89 23473 44221 67774 66667 1 66753 WT diagnosis del CHSY3 frameshift Q564fs NM_175856 50-CAAAAC CHSY3 FRAMESHIFT Del Somatic PFAM:PF01644:Chitin_synth_1 -1 0.418 SQHIGH 6 25 31 0 29 29 Cosmic_Gene C C C C TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 337876 5 129520525 129520525 TumorFP Illumina 18 107172 0 107308 100318 0 100419 WT diagnosis ins CHSY3 frameshift Q565fs NM_175856 50-CAAAAC CHSY3 FRAMESHIFT Ins Somatic PFAM:PF01644:Chitin_synth_1 -7 0.252 SQHIGH 6 24 30 0 33 33 Cosmic_Gene A TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 337876 5 129520528 129520528 21 WT diagnosis del TBC1D22B frameshift A175fs NM_017772 50-CAAAAC TBC1D22B FRAMESHIFT Del Somatic -2 0.334 SQHIGH 21 49 70 2 34 36 C C C C TARGET-50-CAAAAC-01A-01D TARGET-50-CAAAAC-10A-01D 55633 6 37250063 37250063 Somatic Illumina 26 44964 13542 60311 60117 479 63084 WT diagnosis del PLOD1 proteinDel E67_K68>E NM_000302 50-CAAAAH PLOD1 DELETE Del Somatic -8 0.265 SQHIGH 5 45 50 2 94 96 Cosmic_Gene AGA AGA AGA AGA TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 5351 1 12009861 12009863 13 WT diagnosis ins GLI3 frameshift Y618fs NM_000168 50-CAAAAH GLI3 NONSENSE Ins Somatic -5 0.420 SQHIGH 22 11 33 0 38 38 Cosmic_Gene T TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 2737 7 42012185 42012185 98 WT diagnosis ins WDFY4 splice_region G2711_E52splice_region NM_020945 50-CAAAAH WDFY4 INTRON Ins Somatic -10 0.225 SQHIGH 6 51 57 1 69 70 T TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 57705 10 50165337 50165337 15 WT diagnosis ins PSMD7 frameshift V172fs NM_002811 50-CAAAAH PSMD7|LOC100506201 FRAMESHIFT|INTRON Ins Somatic -7 0.345 SQHIGH 4 22 26 1 59 60 C TARGET-50-CAAAAH-01A-01D TARGET-50-CAAAAH-10A-01D 5713|100506201 16 74338276 74338276 16 WT diagnosis del LRFN2 frameshift N133_Q135fs NM_020737 50-CAAAAL LRFN2 FRAMESHIFT Del Somatic -9 0.251 SQHIGH 6 62 68 0 50 50 Cosmic_Gene GGTTG GGTTG GGTTG GGTTG TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 57497 6 40400450 40400454 15 WT diagnosis del ITM2A frameshift F92fs NM_004867 50-CAAAAL ITM2A FRAMESHIFT Del Somatic -2 0.425 SQHIGH 15 27 42 0 32 32 Cosmic_Gene A A A A TARGET-50-CAAAAL-01A-01D TARGET-50-CAAAAL-10A-01D 9452 X 78618604 78618604 43 WT diagnosis del CYP4V2 frameshift L6fs NM_207352 50-PAECJB CYP4V2 FRAMESHIFT Del Somatic -1 0.447 SQHIGH 6 21 27 0 32 32 T T T T TARGET-50-PAECJB-01A-01D TARGET-50-PAECJB-11A-01D 285440 4 187112994 187112994 22 WT diagnosis ins CITED1 frameshift V36fs NM_004143 50-PAJLKR CITED1 FRAMESHIFT Ins Somatic PFAM:PF04487:CITED -6 0.366 SQHIGH 14 12 26 1 32 33 A TARGET-50-PAJLKR-01A-01D TARGET-50-PAJLKR-11A-01D 4435 X 71522047 71522047 51 WT diagnosis ins ATP10A frameshift L315fs NM_024490 50-PAJLLF ATP10A FRAMESHIFT Ins Somatic PFAM:PF00122:E1-E2_ATPase -9 0.230 SQHIGH 3 15 18 0 40 40 Cosmic_Gene T TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 57194 15 25971131 25971131 16 WT diagnosis del CREBBP frameshift G105_Q106fs NM_004380 50-PAJLLF CREBBP FRAMESHIFT Del Somatic -8 0.257 SQHIGH 5 21 26 0 26 26 Cosmic_Gene GC GC GC GC TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 1387 16 3900780 3900781 16 WT diagnosis ins ZMYND15 frameshift P484fs NM_001136046 50-PAJLLF ZMYND15|CXCL16 INTRON,NONSENSE|TSS-UPSTREAM Ins Somatic -3 0.484 SQHIGH 10 21 31 0 48 48 CTGAC TARGET-50-PAJLLF-01A-01D TARGET-50-PAJLLF-11A-01D 84225|58191 17 4647359 4647359 45 WT diagnosis del CTNNB1 proteinDel P44_S45>P NM_001904 50-PAJLNJ CTNNB1 DELETE Del Somatic 0 0.482 SQHIGH 9 21 30 0 30 30 COSMIC:mut:6131,COSMIC:mut:33668,COSMIC:mut:5663,COSMIC:mut:6128,COSMIC:mut:33726 Cosmic_Gene CTT CTT CTT CTT TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 1499 3 41266134 41266136 30 WT diagnosis ins RBM5-AS1 EXON E5_exon NM_005778 50-PAJLNJ RBM5 INTRON Ins Somatic -7 0.284 SQHIGH 6 30 36 0 22 22 Cosmic_Gene T TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 10181 3 50137713 50137713 13 WT diagnosis del APC frameshift T1556_I1557fs NM_000038 50-PAJLNJ APC NONSENSE Del Somatic -1 0.420 SQHIGH 11 50 61 0 79 79 Cosmic_Gene TA TA TA TA TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 324 5 112175959 112175960 42 WT diagnosis del PCDHGA1 frameshift F704fs NM_018912 50-PAJLNJ PCDHGA1 FRAMESHIFT Del Somatic -1 0.420 SQHIGH 6 22 28 0 27 27 Cosmic_Gene T T T T TARGET-50-PAJLNJ-01A-01D TARGET-50-PAJLNJ-11A-01D 56114 5 140712361 140712361 19 WT diagnosis ins OR8G1 splice P287_E1splice NM_001002905 50-PAJLPX OR8G1 INSERT+ Ins Somatic -4 0.440 SQHIGH 5 24 29 0 29 29 CTCGAA TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 26494 11 124121285 124121285 16 WT diagnosis del RFNG frameshift A116fs NM_002917 50-PAJLPX RFNG|GPS1 FRAMESHIFT|TSS-UPSTREAM Del Somatic PFAM:PF01762:Galactosyl_T -9 0.222 SQHIGH 6 11 17 0 14 14 Cosmic_Gene C C C C TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 5986|2873 17 80008611 80008611 18 WT diagnosis del PLCXD1 proteinDel V81del NM_018390 50-PAJLPX PLCXD1 DELETE,UTR Del Somatic -2 0.386 SQHIGH 4 18 22 0 38 38 GTG GTG GTG GTG TARGET-50-PAJLPX-01A-01D TARGET-50-PAJLPX-11A-01D 55344 X 205513 205515 18 WT diagnosis del ADCY5 frameshift C767_A768fs NM_183357 50-PAJLUJ ADCY5 FRAMESHIFT Del Somatic -3 0.336 SQHIGH 10 49 59 1 73 74 Cosmic_Gene CA CA CA CA TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 111 3 123036919 123036920 29 WT diagnosis ins CIZ1 frameshift S215fs NM_012127 50-PAJLUJ CIZ1 NONSENSE Ins Somatic -2 0.527 SQHIGH 21 11 32 0 31 31 Cosmic_Gene GACC TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 25792 9 130943037 130943037 83 WT diagnosis del RITA1 frameshift R3_E4fs NM_001286215 50-PAJLUJ C12orf52|DDX54 UTR5|TSS-UPSTREAM Del Somatic -7 0.256 SQHIGH 4 28 32 0 36 36 Cosmic_Gene GGG GGG GGG GGG TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 84934|79039 12 113624487 113624489 14 WT diagnosis del TBX3 frameshift P723fs NM_005996 50-PAJLUJ TBX3 FRAMESHIFT Del Somatic 1 0.592 SQHIGH 10 19 29 2 22 24 Cosmic_Gene G G G G TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 6926 12 115109650 115109650 16 WT diagnosis del CHGA proteinDel Q361_E362>Q NM_001275 50-PAJLUJ CHGA DELETE Del Somatic PFAM:PF01271:Granin -6 0.270 SQHIGH 4 24 28 0 45 45 Cosmic_Gene AGG AGG AGG AGG TARGET-50-PAJLUJ-06A-01D TARGET-50-PAJLUJ-10A-01D 1113 14 93398988 93398990 17 WT diagnosis ins ZMYM4 frameshift E1448fs NM_005095 50-PAJMEL ZMYM4 FRAMESHIFT Ins Somatic PFAM:PF12012:DUF3504 -6 0.327 SQHIGH 21 34 55 0 49 49 Cosmic_Gene G TARGET-50-PAJMEL-01A-01D TARGET-50-PAJMEL-10A-01D 9202 1 35884075 35884075 68 WT diagnosis del DAB2IP proteinDel W757_R760>W NM_032552 50-PAJMKI DAB2IP DELETE Del Somatic PFAM:PF12004:DUF3498 0 0.469 SQHIGH 17 12 29 0 38 38 Cosmic_Gene GGCCGGCCC GGCCGGCCC GGCCGGCCC GGCCGGCCC TARGET-50-PAJMKI-01A-01D TARGET-50-PAJMKI-11A-01D 153090 9 124535161 124535169 78 WT diagnosis ins LOC101929237 EXON E3_exon NM_144962 50-PAJMLI PEBP4 INTRON Ins Somatic -2 0.547 SQHIGH 25 21 46 0 39 39 Cosmic_Gene C TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 157310 8 22741474 22741474 85 WT diagnosis del PARD3 splice V514_E11splice NM_019619 50-PAJMLI PARD3 ACCEPTOR Del Somatic -1 0.469 SQHIGH 16 29 45 0 69 69 Cosmic_Gene AAAAC AAAAC AAAAC AAAAC TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 56288 10 34663933 34663937 73 WT diagnosis del CYP26A1 frameshift C170fs NM_000783 50-PAJMLI CYP26A1 FRAMESHIFT Del Somatic PFAM:PF00067:p450 -2 0.398 SQHIGH 7 19 26 2 34 36 Cosmic_Gene T T T T TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 1592 10 94834629 94834629 16 WT diagnosis ins CREBZF proteinIns E150>DDE NM_001039618 50-PAJMLI CREBZF INSERT,UTR Ins Somatic -10 0.180 SQHIGH 4 18 22 0 30 30 Cosmic_Gene TCATCG TARGET-50-PAJMLI-01A-01D TARGET-50-PAJMLI-11A-01D 58487 11 85375470 85375470 16 WT diagnosis del RIT2 frameshift V101fs NM_002930 50-PAJMRL RIT2 FRAMESHIFT Del Somatic 0 0.439 SQHIGH 9 5 14 0 65 66 Cosmic_Gene C C C C TARGET-50-PAJMRL-01A-01D TARGET-50-PAJMRL-10A-01D 6014 18 40503662 40503662 Somatic Illumina 80 6973 34441 41526 49621 5 49643 WT diagnosis ins MLLT1 proteinIns L117>LNHL NM_005934 50-PAJMUF MLLT1 INSERT Ins Somatic 0 0.615 SQHIGH 21 10 31 0 24 24 Cosmic_Gene CAGGTGGTT TARGET-50-PAJMUF-01A-01D TARGET-50-PAJMUF-10A-01D 4298 19 6230649 6230649 73 WT diagnosis ins RPN2 proteinIns R536>RG NM_002951 50-PAJMXF RPN2 INSERT Ins Somatic PFAM:PF05817:Ribophorin_II 2 0.813 SQHIGH 32 25 57 0 75 75 Cosmic_Gene GGG TARGET-50-PAJMXF-01A-01D TARGET-50-PAJMXF-10A-01D 6185 20 35860723 35860723 Somatic Illumina 147 16862 12669 29803 25029 0 25311 WT diagnosis del PLCE1 splice S1185_E12splice NM_016341 50-PAJNAA PLCE1 ACCEPTOR Del Somatic -9 0.268 SQHIGH 4 27 31 1 58 59 Cosmic_Gene C C C C TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 51196 10 96018554 96018554 13 WT diagnosis ins PLCE1 frameshift S1185fs NM_016341 50-PAJNAA PLCE1 FRAMESHIFT Ins Somatic -6 0.340 SQHIGH 4 24 28 1 54 55 Cosmic_Gene A TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 51196 10 96018557 96018557 14 WT diagnosis del CCDC81 frameshift E478fs NM_001156474 50-PAJNAA CCDC81 FRAMESHIFT Del Somatic 4 0.899 SQHIGH 21 31 52 0 41 41 Cosmic_Gene A A A A TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 60494 11 86125872 86125872 63 WT diagnosis ins PACS2 frameshift P724fs NM_001100913 50-PAJNAA PACS2 FRAMESHIFT Ins Somatic PFAM:PF10254:Pacs-1 -2 0.528 SQHIGH 13 16 29 0 44 44 Cosmic_Gene GCCG TARGET-50-PAJNAA-01A-01D TARGET-50-PAJNAA-10A-01D 23241 14 105858019 105858019 61 WT diagnosis del RGS12 frameshift G464fs NM_198229 50-PAJNCC RGS12 FRAMESHIFT Del Somatic -8 0.247 SQHIGH 4 47 52 0 63 63 Cosmic_Gene T T T T TARGET-50-PAJNCC-01A-01D TARGET-50-PAJNCC-11A-01D 6002 4 3319289 3319289 14 WT diagnosis del GATA4 frameshift R284fs NM_002052 50-PAJNCJ GATA4 FRAMESHIFT Del Somatic -4 0.322 SQHIGH 9 18 27 0 27 27 Cosmic_Gene CG CG CG CG TARGET-50-PAJNCJ-01A-01D TARGET-50-PAJNCJ-11A-01D 2626 8 11607686 11607687 31 WT diagnosis del NIPBL frameshift K498fs NM_133433 50-PAJNDU NIPBL FRAMESHIFT Del Somatic -3 0.348 SQHIGH 16 17 33 0 31 31 Cosmic_Gene A A A A TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 25836 5 36976501 36976501 56 WT diagnosis del MLLT1 proteinDel P112_V114>L NM_005934 50-PAJNDU MLLT1 DELETE+ Del Somatic PFAM:PF03366:YEATS 0 0.516 SQHIGH 30 30 60 0 58 58 Cosmic_Gene CGGGCG CGGGCG CGGGCG CGGGCG TARGET-50-PAJNDU-01A-01D TARGET-50-PAJNDU-11A-01D 4298 19 6230661 6230666 109 WT diagnosis del GRPEL1 proteinDel L206_R207>R NM_025196 50-PAJNEC GRPEL1 DELETE+ Del Somatic -3 0.347 SQHIGH 4 29 33 0 43 43 TCA TCA TCA TCA TARGET-50-PAJNEC-01A-01D TARGET-50-PAJNEC-11A-01D 80273 4 7062624 7062626 15 WT diagnosis del NF2 proteinDel Y144_A145>Y NM_000268 50-PAJNEC NF2 DELETE Del Somatic PFAM:PF00373:FERM_M -4 0.323 SQHIGH 10 12 22 0 29 29 Cosmic_Gene CGC CGC CGC CGC TARGET-50-PAJNEC-01A-01D TARGET-50-PAJNEC-11A-01D 4771 22 30038259 30038261 43 WT diagnosis del LCE2C frameshift F41_P42fs NM_178429 50-PAJNJJ LCE2C FRAMESHIFT Del Somatic -10 0.233 SQHIGH 5 49 54 0 96 96 CC CC CC CC TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 353140 1 152648614 152648615 23 WT diagnosis del PAX8 frameshift E237fs NM_003466 50-PAJNJJ PAX8|LOC654433 FRAMESHIFT|INTRON Del Somatic 3 0.729 SQHIGH 34 23 57 0 67 67 Cosmic_Gene CT CT CT CT TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 7849|654433 2 113999194 113999195 148 WT diagnosis ins HERC2 frameshift T2956fs NM_004667 50-PAJNJJ HERC2 FRAMESHIFT Ins Somatic -9 0.201 SQHIGH 3 6 9 0 14 14 Cosmic_Gene C TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 8924 15 28427617 28427617 13 WT diagnosis ins EARS2 frameshift T340fs NM_001083614 50-PAJNJJ EARS2 FRAMESHIFT,UTR Ins Somatic -3 0.453 SQHIGH 5 18 23 2 41 43 T TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 124454 16 23544026 23544026 13 WT diagnosis ins BCOR frameshift A1520fs NM_017745 50-PAJNJJ BCOR NONSENSE Ins Somatic PFAM:PF12796:Ank_2 0 0.627 SQHIGH 45 30 75 0 81 81 Cosmic_Gene A TARGET-50-PAJNJJ-01A-01D TARGET-50-PAJNJJ-11A-01D 54880 X 39914699 39914699 187 WT diagnosis del CYP4A22 frameshift F236fs NM_001010969 50-PAJNNC CYP4A22 FRAMESHIFT Del Somatic PFAM:PF00067:p450 -6 0.269 SQHIGH 4 33 37 0 82 82 Cosmic_Gene T T T T TARGET-50-PAJNNC-01A-01D TARGET-50-PAJNNC-11A-01D 284541 1 47609504 47609504 21 WT diagnosis ins BRINP2 frameshift R211fs NM_021165 50-PAJNNC BRINP2 FRAMESHIFT Ins Somatic PFAM:PF01823:MACPF -4 0.410 SQHIGH 22 34 56 1 34 35 Cosmic_Gene G TARGET-50-PAJNNC-01A-01D TARGET-50-PAJNNC-11A-01D 57795 1 177226482 177226482 44 WT diagnosis del ATAT1 frameshift D213fs NM_024909 50-PAJNNC ATAT1 INTRON,FRAMESHIFT,UTR Del Somatic 2 0.644 SQHIGH 20 29 49 1 41 42 Cosmic_Gene G G G G TARGET-50-PAJNNC-01A-01D TARGET-50-PAJNNC-11A-01D 79969 6 30608365 30608365 53 WT diagnosis del CD36 frameshift A120fs NM_001001548 50-PAJNNC CD36 FRAMESHIFT Del Somatic PFAM:PF01130:CD36 5 0.954 SQHIGH 14 15 29 0 30 30 Cosmic_Gene C C C C TARGET-50-PAJNNC-01A-01D TARGET-50-PAJNNC-11A-01D 948 7 80290456 80290456 52 WT diagnosis ins TACC2 frameshift M1374fs NM_206862 50-PAJNSL TACC2 FRAMESHIFT,INTRON Ins Somatic -1 0.593 SQHIGH 10 64 74 1 83 84 Cosmic_Gene G TARGET-50-PAJNSL-01A-01D TARGET-50-PAJNSL-11A-01D 10579 10 123846136 123846136 26 WT diagnosis ins MLLT1 proteinIns L117>LNHL NM_005934 50-PAJNSL MLLT1 INSERT Ins Somatic -4 0.429 SQHIGH 28 29 57 0 61 61 Cosmic_Gene CAGGTGGTT TARGET-50-PAJNSL-01A-01D TARGET-50-PAJNSL-11A-01D 4298 19 6230649 6230649 108 WT diagnosis ins WT1 frameshift P359fs NM_000378 50-PAJNUS WT1 FRAMESHIFT Ins Somatic PFAM:PF02165:WT1 2 0.828 SQHIGH 35 2 37 0 37 37 COSMIC:mut:41868 Cosmic_Gene G G TARGET-50-PAJNUS-01A-01D TARGET-50-PAJNUS-10A-01D 7490 11 32417924 32417924 184 WT diagnosis del ARHGAP35 frameshift S56_V57fs NM_004491 50-PAJNUS ARHGAP35 FRAMESHIFT Del Somatic -2 0.446 SQHIGH 20 37 57 0 55 55 TCCG TCCG TCCG TCCG TARGET-50-PAJNUS-01A-01D TARGET-50-PAJNUS-10A-01D 2909 19 47422098 47422101 67 WT diagnosis ins CHERP frameshift P78fs NM_006387 50-PAJNYT CHERP FRAMESHIFT Ins Somatic 0 0.640 SQHIGH 9 24 33 3 41 44 Cosmic_Gene A TARGET-50-PAJNYT-01A-02D TARGET-50-PAJNYT-11A-01D 10523 19 16646412 16646412 18 WT diagnosis ins PTK6 frameshift E76fs NM_005975 50-PAJNZI PTK6 FRAMESHIFT Ins Somatic -3 0.468 SQHIGH 7 24 31 2 45 47 Cosmic_Gene C TARGET-50-PAJNZI-01A-01D TARGET-50-PAJNZI-11A-01D 5753 20 62168440 62168440 18 WT diagnosis ins NOA1 frameshift E270fs NM_032313 50-PAJNZK C4orf14|POLR2B FRAMESHIFT|TSS-UPSTREAM Ins Somatic -8 0.225 SQHIGH 6 26 32 2 52 54 Cosmic_Gene G TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 84273|5431 4 57842941 57842941 16 WT diagnosis del PLA2G15 proteinDel Y274_T275>S NM_012320 50-PAJNZK PLA2G15 DELETE+ Del Somatic PFAM:PF02450:LACT -4 0.315 SQHIGH 7 48 55 2 83 85 Cosmic_Gene ACA ACA ACA ACA TARGET-50-PAJNZK-01A-01D TARGET-50-PAJNZK-11A-01D 23659 16 68293142 68293144 17 WT diagnosis del ZNF654 proteinDel V467_E470>V NM_018293 50-PAJNZS ZNF654|CGGBP1 DELETE|INTRON Del Somatic -1 0.447 SQHIGH 19 35 54 0 71 71 Cosmic_Gene ACCACAAGA ACCACAAGA ACCACAAGA ACCACAAGA TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 55279|8545 3 88189861 88189869 79 WT diagnosis del LMOD2 proteinDel V379del NM_207163 50-PAJNZS LMOD2 DELETE Del Somatic -4 0.337 SQHIGH 7 22 29 1 33 34 GTC GTC GTC GTC TARGET-50-PAJNZS-01A-01D TARGET-50-PAJNZS-11A-01D 442721 7 123302775 123302777 18 WT diagnosis del RASGRF1 frameshift Q159fs NM_002891 50-PAJNZU RASGRF1 FRAMESHIFT Del Somatic -9 0.247 SQHIGH 6 37 43 1 51 52 Cosmic_Gene G G G G TARGET-50-PAJNZU-01A-01D TARGET-50-PAJNZU-11A-01D 5923 15 79350732 79350732 15 WT diagnosis del NCKIPSD frameshift D394_D395fs NM_016453 50-PAJPAR NCKIPSD FRAMESHIFT Del Somatic -7 0.262 SQHIGH 4 17 21 0 23 23 CGTC CGTC CGTC CGTC TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 51517 3 48717572 48717575 14 WT diagnosis ins PCDHGB5 proteinIns R522>RS NM_018925 50-PAJPAR PCDHGA8|PCDHGA3|PCDHGB3|PCDHGB5|PCDHGA4|PCDHGA9|PCDHGB1|PCDHGA7|PCDHGB4|PCDHGA2|PCDHGA5|PCDHGA1|PCDHGA6|PCDHGB2 INTRON|INTRON|INTRON|INSERT|INTRON|TSS-UPSTREAM|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON|INTRON Ins Somatic -2 0.554 SQHIGH 30 21 51 2 59 61 Cosmic_Gene GCA TARGET-50-PAJPAR-01A-01D TARGET-50-PAJPAR-11A-01D 9708|56112|56102|56101|56111|56107|56104|56108|8641|56113|56110|56114|56109|56103 5 140779258 140779258 107 WT diagnosis ins ENTPD3 frameshift E78fs NM_001248 50-PAJPAU ENTPD3-AS1|ENTPD3 INTRON|FRAMESHIFT Ins Somatic PFAM:PF01150:GDA1_CD39 -8 0.222 SQHIGH 6 10 16 1 21 22 Cosmic_Gene A TARGET-50-PAJPAU-01A-01D TARGET-50-PAJPAU-10A-01D 285266|956 3 40442448 40442448 18 WT diagnosis del PELI3 frameshift R304fs NM_145065 50-PAJPEW DPP3|PELI3 TSS-UPSTREAM|FRAMESHIFT Del Somatic PFAM:PF04710:Pellino -4 0.324 SQHIGH 5 21 26 0 21 21 Cosmic_Gene G G G G TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 10072|246330 11 66243139 66243139 14 WT diagnosis ins ETS1 frameshift D403fs NM_001143820 50-PAJPEW ETS1 FRAMESHIFT Ins Somatic PFAM:PF00178:Ets -5 0.355 SQHIGH 41 43 84 1 81 82 Cosmic_Gene TC TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 2113 11 128333437 128333437 135 WT diagnosis del RDH16 frameshift E205fs NM_003708 50-PAJPEW RDH16 FRAMESHIFT Del Somatic -8 0.259 SQHIGH 10 43 53 2 55 57 C C C C TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 8608 12 57346734 57346734 20 WT diagnosis del BCORL1 frameshift Q748fs NM_021946 50-PAJPEW BCORL1 FRAMESHIFT Del Somatic 5 0.956 SQHIGH 48 0 48 0 40 40 Cosmic_Gene G G TARGET-50-PAJPEW-01A-01D TARGET-50-PAJPEW-11A-01D 63035 X 129148992 129148992 253 WT diagnosis ins KRT5 frameshift G13fs NM_000424 50-PAJPGY KRT5 FRAMESHIFT Ins Somatic -7 0.374 SQHIGH 17 34 51 0 29 29 C TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 3852 12 52914042 52914042 38 WT diagnosis del BPTF frameshift E1396_K1397fs NM_182641 50-PAJPGY BPTF FRAMESHIFT Del Somatic -1 0.493 SQHIGH 12 34 46 0 42 42 Cosmic_Gene AAAG AAAG AAAG AAAG TARGET-50-PAJPGY-01A-01D TARGET-50-PAJPGY-11A-01D 2186 17 65908188 65908191 37 WT diagnosis ins PARP16 frameshift A19fs NM_017851 50-PAKFME PARP16 FRAMESHIFT Ins Somatic -6 0.353 SQHIGH 9 37 46 1 36 37 Cosmic_Gene A TARGET-50-PAKFME-01A-01D TARGET-50-PAKFME-10A-01D 54956 15 65578709 65578709 17 WT diagnosis ins ERICH3 frameshift S587fs NM_001002912 50-PAKGED ERICH3 FRAMESHIFT Ins Somatic -9 0.223 SQHIGH 4 21 25 0 32 32 Cosmic_Gene C TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 127254 1 75055730 75055730 15 WT diagnosis ins HES6 frameshift G146fs NM_018645 50-PAKGED HES6 FRAMESHIFT Ins Somatic -10 0.210 SQHIGH 9 12 21 2 20 22 Cosmic_Gene G TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 55502 2 239147706 239147706 19 WT diagnosis ins OTUD5 frameshift T2fs NM_017602 50-PAKGED OTUD5 INTRON,FRAMESHIFT Ins Somatic -3 0.484 SQHIGH 4 31 35 0 39 39 Cosmic_Gene G TARGET-50-PAKGED-01A-01D TARGET-50-PAKGED-10A-01D 55593 X 48814826 48814826 13 WT diagnosis ins RCSD1 frameshift E226fs NM_052862 50-PAKJGM RCSD1 FRAMESHIFT Ins Somatic 0 0.610 SQHIGH 15 63 78 2 43 45 Cosmic_Gene C TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 92241 1 167666537 167666537 18 WT diagnosis del USP34 frameshift I193_L194fs NM_014709 50-PAKJGM USP34 FRAMESHIFT Del Somatic 0 0.444 SQHIGH 7 6 13 1 28 29 Cosmic_Gene AT AT AT AT TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 9736 2 61622341 61622342 34 WT diagnosis ins PAX3 frameshift Q332fs NM_181457 50-PAKJGM PAX3 FRAMESHIFT Ins Somatic -6 0.303 SQHIGH 10 29 39 2 37 39 Cosmic_Gene G TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 5077 2 223085037 223085037 19 WT diagnosis del HARS frameshift L103fs NM_002109 50-PAKJGM HARS FRAMESHIFT Del Somatic 5 0.951 SQHIGH 17 22 39 0 65 65 Cosmic_Gene A A A A TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 3035 5 140059461 140059461 84 WT diagnosis del CDK5RAP1 frameshift D54_S56fs NM_016408 50-PAKJGM CDK5RAP1 FRAMESHIFT,UTR5 Del Somatic -1 0.360 SQHIGH 8 26 34 0 27 27 Cosmic_Gene TGAAA TGAAA TGAAA TGAAA TARGET-50-PAKJGM-01A-01D TARGET-50-PAKJGM-11A-02D 51654 20 31984705 31984709 22 WT diagnosis del KDM5C frameshift G908fs NM_004187 50-PAKMUB KDM5C FRAMESHIFT Del Somatic PFAM:PF08429:PLU-1 5 0.992 SQHIGH 24 1 25 0 27 27 Cosmic_Gene CC CC TARGET-50-PAKMUB-01A-02D TARGET-50-PAKMUB-10A-01D 8242 X 53226125 53226126 132 WT diagnosis del TLDC2 frameshift I124fs NM_080628 50-PAKNRX TLDC2 FRAMESHIFT Del Somatic PFAM:PF07534:TLD 0 0.381 SQHIGH 16 45 61 2 62 64 C C C C TARGET-50-PAKNRX-01A-01D TARGET-50-PAKNRX-10A-01D 140711 20 35509087 35509087 Somatic Illumina 37 36879 18863 55814 106383 3 106492 WT diagnosis del CNOT8 frameshift L232fs NM_004779 50-PAKNXS CNOT8 FRAMESHIFT Del Somatic PFAM:PF04857:CAF1 -6 0.305 SQHIGH 4 13 17 0 19 19 C C C C TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 9337 5 154252176 154252176 14 WT diagnosis ins DHRS1 frameshift W304>CAQV NM_001136050 50-PAKNXS DHRS1 MISSENSE Ins Somatic -1 0.537 SQHIGH 9 16 25 0 36 36 CACTTGGGCA TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 115817 14 24760095 24760095 39 WT diagnosis ins CBR3-AS1 EXON E2_exon NM_001236 50-PAKNXS LOC100506428|CBR3 INTRON,UTR|INTRON Ins Somatic 1 0.654 SQHIGH 29 31 60 0 65 65 TTAT TARGET-50-PAKNXS-01A-01D TARGET-50-PAKNXS-10A-01D 100506428|874 21 37513882 37513882 113 WT diagnosis ins IRGQ frameshift A461fs NM_001007561 50-PAKRVH ZNF576|IRGQ TSS-UPSTREAM|FRAMESHIFT Ins Somatic -10 0.181 SQHIGH 4 17 21 0 32 32 Cosmic_Gene T TARGET-50-PAKRVH-01A-01D TARGET-50-PAKRVH-10A-01D 79177|126298 19 44096667 44096667 17 WT diagnosis del RWDD2A proteinDel R180_L181>R NM_033411 50-PAKSCC RWDD2A|PGM3 DELETE+|TSS-UPSTREAM Del Somatic PFAM:PF06544:DUF1115 -7 0.268 SQHIGH 8 63 71 0 75 75 GTT GTT GTT GTT TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 112611|5238 6 83905652 83905654 26 WT diagnosis ins HPS6 frameshift A439fs NM_024747 50-PAKSCC HPS6 FRAMESHIFT Ins Somatic -10 0.192 SQHIGH 10 19 29 2 23 25 CCTCCATCCTCCAT TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 79803 10 103826546 103826546 17 WT diagnosis del ARHGAP32 frameshift A1732fs NM_001142685 50-PAKSCC ARHGAP32 FRAMESHIFT Del Somatic -2 0.366 SQHIGH 5 24 29 0 28 28 Cosmic_Gene C C C C TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 9743 11 128839872 128839872 15 WT diagnosis ins MLLT1 proteinIns L117>LNHL NM_005934 50-PAKSCC MLLT1 INSERT Ins Somatic -2 0.505 SQHIGH 38 16 54 0 46 46 Cosmic_Gene CAGGTGGTT TARGET-50-PAKSCC-01A-01D TARGET-50-PAKSCC-11A-01D 4298 19 6230649 6230649 144 WT diagnosis ins NPHS2 frameshift L156fs NM_014625 50-PAKUIT NPHS2 FRAMESHIFT Ins Somatic -4 0.396 SQHIGH 14 12 26 1 18 19 A TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 7827 1 179528880 179528880 33 WT diagnosis ins NLRC5 frameshift V76fs NM_032206 50-PAKUIT NLRC5 FRAMESHIFT Ins Somatic -10 0.181 SQHIGH 7 18 25 1 25 26 Cosmic_Gene TGCA TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 84166 16 57054852 57054852 17 WT diagnosis del RLIM frameshift A516fs NM_016120 50-PAKUIT RLIM FRAMESHIFT Del Somatic 3 0.763 SQHIGH 29 30 59 0 58 58 Cosmic_Gene C C C C TARGET-50-PAKUIT-01A-01D TARGET-50-PAKUIT-10A-01D 51132 X 73811604 73811604 106 WT diagnosis del CATSPER4 frameshift R409fs NM_198137 50-PAKWPM CATSPER4 FRAMESHIFT Del Somatic 0 0.454 SQHIGH 4 26 30 0 59 60 Cosmic_Gene C C C C TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 378807 1 26527872 26527872 19 WT diagnosis ins CATSPER4 frameshift N411fs NM_198137 50-PAKWPM CATSPER4 FRAMESHIFT Ins Somatic -7 0.280 SQHIGH 4 26 30 0 58 59 Cosmic_Gene G TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 378807 1 26527876 26527876 19 WT diagnosis ins FOCAD frameshift L336fs NM_017794 50-PAKWPM FOCAD FRAMESHIFT Ins Somatic -10 0.199 SQHIGH 10 18 28 1 25 26 Cosmic_Gene CTCTGTTA TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 54914 9 20781738 20781738 24 WT diagnosis ins KLC2 proteinIns R518>RSESG NM_022822 50-PAKWPM KLC2|RAB1B INSERT|TSS-UPSTREAM Ins Somatic -6 0.330 SQHIGH 8 25 43 2 39 50 GGTCTGAGTCTG TARGET-50-PAKWPM-01A-01D TARGET-50-PAKWPM-10A-01D 64837|81876 11 66033433 66033433 17 WT diagnosis del DIS3L2 frameshift L818_W820fs NM_152383 50-PAKYFC DIS3L2 FRAMESHIFT Del Somatic 4 0.894 SQHIGH 26 5 31 0 91 91 Cosmic_Gene GGTCTGG GGTCTGG GGTCTGG GGTCTGG TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 129563 2 233200542 233200548 212 WT diagnosis ins ATG13 frameshift H441fs NM_001142673 50-PAKYFC ATG13 FRAMESHIFT Ins Somatic -4 0.439 SQHIGH 8 44 52 1 54 55 Cosmic_Gene T TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 9776 11 46690434 46690434 19 WT diagnosis ins ATG13 frameshift D442fs NM_001142673 50-PAKYFC ATG13 FRAMESHIFT Ins Somatic -7 0.308 SQHIGH 8 55 63 2 66 68 Cosmic_Gene A TARGET-50-PAKYFC-01A-01D TARGET-50-PAKYFC-11A-01D 9776 11 46690439 46690439 14 WT diagnosis del DAPL1 frameshift A81fs NM_001017920 50-PAKZHF DAPL1 FRAMESHIFT Del Somatic 4 0.872 SQHIGH 23 23 46 0 45 45 GC GC GC GC TARGET-50-PAKZHF-01A-01D TARGET-50-PAKZHF-11A-01D 92196 2 159672250 159672251 84 WT diagnosis del FBLN1 frameshift E196fs NM_006487 50-PALDWP FBLN1 FRAMESHIFT Del Somatic -4 0.324 SQHIGH 7 6 13 0 17 17 Cosmic_Gene G G G G TARGET-50-PALDWP-01A-01D TARGET-50-PALDWP-11A-01D 2192 22 45928984 45928984 31 WT diagnosis ins MLLT1 proteinIns L117>LNHL NM_005934 50-PALERC MLLT1 INSERT Ins Somatic 4 0.912 SQHIGH 37 14 51 0 63 63 Cosmic_Gene CAGGTGGTT TARGET-50-PALERC-01A-01D TARGET-50-PALERC-11A-01D 4298 19 6230649 6230649 180 WT diagnosis ins PLXNB1 frameshift R2051fs NM_002673 50-PALEZT PLXNB1 SPAN5 Ins Somatic PFAM:PF08337:Plexin_cytopl -10 0.205 SQHIGH 8 20 28 2 30 32 Cosmic_Gene T TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 5364 3 48448305 48448305 16 WT diagnosis ins PPM1F frameshift L27fs NM_014634 50-PALEZT PPM1F FRAMESHIFT Ins Somatic -3 0.517 SQHIGH 9 34 43 0 22 22 Cosmic_Gene TC TARGET-50-PALEZT-01A-01D TARGET-50-PALEZT-10A-01D 9647 22 22300339 22300339 18 WT diagnosis del IKZF3 proteinDel Y314_A319del NM_012481 50-PALGAZ IKZF3 DELETE Del Somatic 0 0.514 SQHIGH 18 33 51 0 63 63 Cosmic_Gene GGCTTCGGCGCCAAGATA GGCTTCGGCGCCAAGATA GGCTTCGGCGCCAAGATA GGCTTCGGCGCCAAGATA TARGET-50-PALGAZ-01A-01D TARGET-50-PALGAZ-10A-01D 22806 17 37922616 37922633 72 WT diagnosis del ASXL1 frameshift G643fs NM_015338 50-PALGVY ASXL1 FRAMESHIFT Del Somatic -3 0.357 SQHIGH 17 13 30 1 29 30 Cosmic_Gene G G G G TARGET-50-PALGVY-01A-01D TARGET-50-PALGVY-10A-01D 171023 20 31022442 31022442 54 WT diagnosis del VPS35 proteinDel E575_L576>V NM_018206 50-PALKCW VPS35 DELETE+ Del Somatic PFAM:PF03635:Vps35 -9 0.235 SQHIGH 5 43 48 0 44 44 GCT GCT GCT GCT TARGET-50-PALKCW-01A-01D TARGET-50-PALKCW-11A-01D 55737 16 46696996 46696998 15 WT diagnosis del PIK3R4 frameshift N513fs NM_014602 50-PALLFB PIK3R4 FRAMESHIFT Del Somatic 2 0.564 SQHIGH 10 14 24 0 25 25 Cosmic_Gene T T T T TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 30849 3 130449199 130449199 Somatic Illumina 36 40562 34617 75308 94514 367 95031 WT diagnosis ins OR4D9 frameshift L130fs NM_001004711 50-PALLFB OR4D9 FRAMESHIFT Ins Somatic PFAM:PF00001:7tm_1 -2 0.448 SQHIGH 7 51 58 0 104 104 A TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 390199 11 59282773 59282773 32 WT diagnosis ins SWSAP1 frameshift A89fs NM_175871 50-PALLFB SWSAP1 FRAMESHIFT Ins Somatic -5 0.301 SQHIGH 9 13 22 1 29 30 C TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 126074 19 11486267 11486267 Somatic Illumina 30 41882 27486 69792 92018 739 93172 WT diagnosis ins NF2 frameshift F11fs NM_000268 50-PALLFB NF2 FRAMESHIFT Ins Somatic -7 0.201 SQHIGH 15 0 15 0 15 15 Cosmic_Gene T T TARGET-50-PALLFB-01A-01D TARGET-50-PALLFB-11A-01D 4771 22 30000017 30000017 BadAssay Illumina 82 0 1 1 9824 39 9908