Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error AGL 178 genome.wustl.edu 36 1 100122272 100122272 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 100122272 100122272 G A SNP AGL NM_000028 human genbank 54_36p 1 validated missense c.2317 p.E773K 1 NULL "superfamily_(Trans)glycosidases,HMMPfam_GDE_C,superfamily_Six-hairpin glycosidases" - no_errors SASS6 163786 genome.wustl.edu 36 1 100345785 100345785 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 100345785 100345785 G A SNP SASS6 NM_194292 human genbank 54_36p -1 validated missense c.1133 p.A378V 1 NULL NULL - no_errors LRRC39 127495 genome.wustl.edu 36 1 100390656 100390656 + Silent SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 100390656 100390656 G A SNP LRRC39 NM_144620 human genbank 54_36p -1 provisional silent c.825 p.F275 1 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors UBE4B 10277 genome.wustl.edu 36 1 10161345 10161345 + Silent SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 10161345 10161345 G C SNP UBE4B NM_001105562 human genbank 54_36p 1 reviewed silent c.3582 p.G1194 0.97 HMMPfam_Ufd2P_core "HMMPfam_Ufd2P_core,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00504" - no_errors OLFM3 118427 genome.wustl.edu 36 1 102042416 102042416 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 102042416 102042416 A C SNP OLFM3 NM_058170 human genbank 54_36p -1 validated missense c.1343 p.L448R 1 "HMMPfam_OLF,HMMSmart_SM00284" "HMMPfam_OLF,HMMSmart_SM00284" - no_errors OLFM3 118427 genome.wustl.edu 36 1 102063368 102063368 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 102063368 102063368 C G SNP OLFM3 NM_058170 human genbank 54_36p -1 validated missense c.394 p.E132Q 1 NULL "HMMPfam_OLF,HMMSmart_SM00284" - no_errors COL11A1 1301 genome.wustl.edu 36 1 103119897 103119897 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 103119897 103119897 A T SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.5020 p.S1674T 1 "HMMSmart_COLFI,HMMPfam_COLFI" "HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI" - no_errors COL11A1 1301 genome.wustl.edu 36 1 103264008 103264008 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 103264008 103264008 T A SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.869 p.E290V 1 NULL "HMMPfam_COLFI,HMMSmart_COLFI,HMMSmart_LamG,HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2" - no_errors KIF1B 23095 genome.wustl.edu 36 1 10347892 10347892 + Splice_Site SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 10347892 10347892 T C SNP KIF1B NM_015074 human genbank 54_36p 1 reviewed splice_site c.4374+2 e39+2 1 - - - no_errors AMY2A 279 genome.wustl.edu 36 1 103968324 103968324 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 103968324 103968324 G T SNP AMY2A NM_000699 human genbank 54_36p 1 reviewed missense c.1304 p.G435V 1 "superfamily_SSF51011,HMMSmart_Aamy_C,HMMPfam_Alpha-amylase_C" "superfamily_Glyco_hydro_cat,HMMPfam_Alpha-amylase,HMMSmart_Aamy,superfamily_SSF51011,HMMSmart_Aamy_C,HMMPfam_Alpha-amylase_C" - no_errors LOC100129138 100129138 genome.wustl.edu 36 1 104417150 104417150 + RNA SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 104417150 104417150 C T SNP LOC100129138 XR_036957 human genbank 54_36p 1 model rna NULL NULL 0.92 - - - no_errors LOC126987 126987 genome.wustl.edu 36 1 106424948 106424948 + RNA SNP A T T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 106424948 106424948 A T SNP LOC126987 XR_016153 human genbank 54_36p -1 model rna NULL NULL 0.25 - - - no_errors NTNG1 22854 genome.wustl.edu 36 1 107669038 107669038 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 107669038 107669038 C G SNP NTNG1 NM_014917 human genbank 54_36p 1 provisional nonsense c.858 p.Y286* 1 "HMMPfam_Laminin_N,HMMSmart_LamNT" "HMMPfam_Laminin_N,HMMSmart_LamNT,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,HMMSmart_EGF,HMMPfam_EGF_2" - no_errors VAV3 10451 genome.wustl.edu 36 1 108114816 108114816 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 108114816 108114816 C A SNP VAV3 NM_006113 human genbank 54_36p -1 reviewed nonsense c.613 p.E205* 1 "superfamily_Calponin-homology domain CH-domain,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" ############################################################################################################################################################################################################################################################### - no_errors SLC25A24 29957 genome.wustl.edu 36 1 108499178 108499178 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 108499178 108499178 C T SNP SLC25A24 NM_013386 human genbank 54_36p -1 validated missense c.772 p.V258I 1 "superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" "superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Mitochondrial carrier,HMMPfam_Mito_carr" - no_errors C1orf59 113802 genome.wustl.edu 36 1 108998946 108998946 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 108998946 108998946 T G SNP C1orf59 NM_001102592 human genbank 54_36p -1 validated missense c.313 p.N105H 0 superfamily_SSF53335 superfamily_SSF53335 - no_errors C1orf59 113802 genome.wustl.edu 36 1 109001645 109001645 + Missense_Mutation SNP T T A rs11540221 Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109001645 109001645 T A SNP C1orf59 NM_001102592 human genbank 54_36p -1 validated missense c.101 p.Q34L 1 superfamily_SSF53335 superfamily_SSF53335 - no_errors STXBP3 6814 genome.wustl.edu 36 1 109116808 109116808 + Splice_Site SNP A A T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109116808 109116808 A T SNP STXBP3 NM_007269 human genbank 54_36p 1 validated splice_site c.439-2 e7-2 1 - - - no_errors STXBP3 6814 genome.wustl.edu 36 1 109123502 109123502 + Silent SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109123502 109123502 G C SNP STXBP3 NM_007269 human genbank 54_36p 1 validated silent c.756 p.L252 1 "superfamily_Sec1-like,HMMPfam_Sec1" "superfamily_Sec1-like,HMMPfam_Sec1" - no_errors AKNAD1 254268 genome.wustl.edu 36 1 109193134 109193136 + In_Frame_Del DEL AAG AAG - novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 AAG AAG AAG - AAG AAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109193134 109193136 AAG - DEL C1orf62 NM_152763 human genbank 54_36p -1 validated in_frame_del c.1105_1103 p.S368in_frame_del 0.633:0.633:0.697 NULL NULL "(deletion:cds_exon[109193057,109193205])" no_errors AKNAD1 254268 genome.wustl.edu 36 1 109196288 109196288 + Silent SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109196288 109196288 C T SNP C1orf62 NM_152763 human genbank 54_36p -1 validated silent c.522 p.P174 0 NULL NULL - no_errors C1orf127 148345 genome.wustl.edu 36 1 10940267 10940267 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 10940267 10940267 C G SNP C1orf127 NM_173507 human genbank 54_36p -1 predicted missense c.239 p.R80T 0.1 NULL NULL - no_errors C1orf194 127003 genome.wustl.edu 36 1 109457783 109457783 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109457783 109457783 C A SNP C1orf194 ENST00000369949 human ensembl 54_36p -1 known missense c.40 p.A14S 0.02 NULL NULL - no_errors KIAA1324 57535 genome.wustl.edu 36 1 109547330 109547330 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 109547330 109547330 T C SNP KIAA1324 ENST00000369939 human ensembl 54_36p 1 known missense c.2773 p.C925R 0.97 NULL "superfamily_Grow_fac_recept,superfamily_Man6php_recept" - no_stop_codon MYBPHL 343263 genome.wustl.edu 36 1 109641076 109641076 + Silent SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109641076 109641076 C T SNP MYBPHL NM_001010985 human genbank 54_36p -1 validated silent c.582 p.T194 0.14 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors ATXN7L2 127002 genome.wustl.edu 36 1 109835204 109835204 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 109835204 109835204 C T SNP ATXN7L2 NM_153340 human genbank 54_36p 1 validated missense c.1496 p.P499L 0.53 NULL HMMPfam_SCA7 - no_errors TARDBP 23435 genome.wustl.edu 36 1 11001432 11001432 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11001432 11001432 C T SNP TARDBP NM_007375 human genbank 54_36p 1 reviewed missense c.458 p.T153M 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors TARDBP 23435 genome.wustl.edu 36 1 11005039 11005039 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11005039 11005039 C T SNP TARDBP NM_007375 human genbank 54_36p 1 reviewed missense c.986 p.A329V 1 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors FAM40A 85369 genome.wustl.edu 36 1 110389166 110389166 + Silent SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 110389166 110389166 G A SNP FAM40A NM_033088 human genbank 54_36p 1 validated silent c.1359 p.T453 0.79 NULL HMMPfam_N1221 - no_errors FAM40A 85369 genome.wustl.edu 36 1 110390856 110390856 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110390856 110390856 C T SNP FAM40A NM_033088 human genbank 54_36p 1 validated missense c.1448 p.A483V 0.95 NULL HMMPfam_N1221 - no_errors UBL4B 164153 genome.wustl.edu 36 1 110456870 110456870 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110456870 110456870 A G SNP UBL4B NM_203412 human genbank 54_36p 1 validated missense c.191 p.N64S 0.96 "HMMSmart_UBQ,superfamily_SSF54236,HMMPfam_ubiquitin" "PatternScan_UBIQUITIN_1,HMMSmart_UBQ,superfamily_SSF54236,HMMPfam_ubiquitin" - no_errors SLC6A17 388662 genome.wustl.edu 36 1 110539769 110539780 + In_Frame_Del DEL TTCGTCCAGCGC TTCGTCCAGCGC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 TTCGTCCAGCGC TTCGTCCAGCGC TTCGTCCAGCGC - TTCGTCCAGCGC TTCGTCCAGCGC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110539769 110539780 TTCGTCCAGCGC - DEL SLC6A17 NM_001010898 human genbank 54_36p 1 validated in_frame_del c.1531_1542 p.FVQR511in_frame_del 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.996 HMMPfam_SNF "HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" "(deletion:cds_exon[110539731,110539890])" no_errors RBM15 64783 genome.wustl.edu 36 1 110689748 110689748 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110689748 110689748 G A SNP RBM15 NM_022768 human genbank 54_36p 1 validated silent c.2928 p.L976 0 NULL "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1,superfamily_SPOC domain-like,HMMPfam_SPOC" - no_errors SLC16A4 9122 genome.wustl.edu 36 1 110725182 110725182 + Silent SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110725182 110725182 C T SNP SLC16A4 NM_004696 human genbank 54_36p -1 provisional silent c.471 p.L157 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC16A4 9122 genome.wustl.edu 36 1 110725868 110725868 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110725868 110725868 G A SNP SLC16A4 NM_004696 human genbank 54_36p -1 provisional missense c.293 p.T98I 0.98 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors KCNA10 3744 genome.wustl.edu 36 1 110862267 110862267 + Silent SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110862267 110862267 C G SNP KCNA10 NM_005549 human genbank 54_36p -1 reviewed silent c.666 p.S222 0.16 superfamily_SSF81324 "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA10 3744 genome.wustl.edu 36 1 110862818 110862818 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110862818 110862818 C G SNP KCNA10 NM_005549 human genbank 54_36p -1 reviewed missense c.115 p.G39R 0.22 NULL "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors KCNA2 3737 genome.wustl.edu 36 1 110948093 110948093 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 110948093 110948093 C G SNP KCNA2 NM_004974 human genbank 54_36p -1 reviewed missense c.835 p.E279Q 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA3 3738 genome.wustl.edu 36 1 111017553 111017553 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111017553 111017553 C T SNP KCNA3 NM_002232 human genbank 54_36p -1 reviewed missense c.1402 p.G468S 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans" - no_errors KCNA3 3738 genome.wustl.edu 36 1 111018078 111018078 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111018078 111018078 C T SNP KCNA3 NM_002232 human genbank 54_36p -1 reviewed missense c.877 p.D293N 1 superfamily_SSF81324 "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors KCNA3 3738 genome.wustl.edu 36 1 111018156 111018156 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111018156 111018156 C T SNP KCNA3 NM_002232 human genbank 54_36p -1 reviewed missense c.799 p.A267T 0.05 superfamily_SSF81324 "HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324" - no_errors C1orf103 55791 genome.wustl.edu 36 1 111292268 111292268 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111292268 111292268 G C SNP C1orf103 NM_018372 human genbank 54_36p -1 validated missense c.2146 p.Q716E 0.69 NULL NULL - no_errors C1orf103 55791 genome.wustl.edu 36 1 111295733 111295733 + Silent SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111295733 111295733 G C SNP C1orf103 NM_018372 human genbank 54_36p -1 validated silent c.1296 p.T432 0 NULL NULL - no_errors DENND2D 79961 genome.wustl.edu 36 1 111543793 111543793 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111543793 111543793 G T SNP DENND2D NM_024901 human genbank 54_36p -1 provisional missense c.218 p.P73H 1 "HMMPfam_uDENN,HMMSmart_SM00800" "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801" - no_errors CHIA 27159 genome.wustl.edu 36 1 111662823 111662823 + Silent SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111662823 111662823 G A SNP CHIA NM_201653 human genbank 54_36p 1 validated silent c.915 p.E305 1 "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain" "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,PatternScan_CHITINASE_18,superfamily_Chitinase insertion domain,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins,HMMPfam_CBM_14" - no_errors OVGP1 5016 genome.wustl.edu 36 1 111759162 111759162 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111759162 111759162 G A SNP OVGP1 NM_002557 human genbank 54_36p -1 reviewed missense c.1484 p.T495I 0 NULL "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain" - no_errors OVGP1 5016 genome.wustl.edu 36 1 111770772 111770772 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111770772 111770772 G C SNP OVGP1 NM_002557 human genbank 54_36p -1 reviewed missense c.70 p.L24V 1 "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases" "HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain" - no_errors C1orf162 128346 genome.wustl.edu 36 1 111822162 111822162 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111822162 111822162 C T SNP C1orf162 NM_174896 human genbank 54_36p 1 predicted missense c.362 p.A121V 0.01 NULL NULL - no_errors ADORA3 140 genome.wustl.edu 36 1 111844530 111844530 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111844530 111844530 C A SNP ADORA3 NM_000677 human genbank 54_36p -1 reviewed missense c.522 p.M174I 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ADORA3 140 genome.wustl.edu 36 1 111847261 111847261 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 111847261 111847261 A T SNP ADORA3 NM_020683 human genbank 54_36p -1 reviewed missense c.239 p.F80Y 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF48726" - no_errors C1orf183 55924 genome.wustl.edu 36 1 112071729 112071729 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 112071729 112071729 G C SNP C1orf183 NM_019099 human genbank 54_36p -1 validated missense c.278 p.P93R 0.05 NULL NULL - no_errors KCND3 3752 genome.wustl.edu 36 1 112131149 112131149 + Silent SNP A A G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 112131149 112131149 A G SNP KCND3 NM_004980 human genbank 54_36p -1 reviewed silent c.1209 p.V403 0.98 superfamily_Voltage-gated potassium channels "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors MOV10 4343 genome.wustl.edu 36 1 113034079 113034079 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 113034079 113034079 G A SNP MOV10 NM_020963 human genbank 54_36p 1 validated silent c.672 p.S224 0 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_ER_TARGET" - no_errors MOV10 4343 genome.wustl.edu 36 1 113040590 113040590 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 113040590 113040590 C T SNP MOV10 NM_020963 human genbank 54_36p 1 validated missense c.1892 p.S631L 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "PatternScan_ER_TARGET,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors AKR7A2P1 246182 genome.wustl.edu 36 1 113268153 113268153 + RNA SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 113268153 113268153 G C SNP AFARP1 NR_002796 human genbank 54_36p 1 provisional rna NULL NULL 0.81 - - - pseudogene LRIG2 9860 genome.wustl.edu 36 1 113442849 113442849 + Splice_Site SNP G G A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 113442849 113442849 G A SNP LRIG2 NM_014813 human genbank 54_36p 1 provisional splice_site c.1092-1 e9-1 1 - - - no_errors LRIG2 9860 genome.wustl.edu 36 1 113458810 113458810 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 113458810 113458810 G A SNP LRIG2 NM_014813 human genbank 54_36p 1 provisional silent c.2319 p.G773 0.98 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" "superfamily_SSF52047,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMPfam_I-set,HMMSmart_IGc2" - no_errors PHTF1 10745 genome.wustl.edu 36 1 114050766 114050766 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114050766 114050766 C A SNP PHTF1 NM_006608 human genbank 54_36p -1 validated missense c.1371 p.L457F 1 NULL NULL - no_errors BCL2L15 440603 genome.wustl.edu 36 1 114230738 114230738 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114230738 114230738 T G SNP BCL2L15 NM_001010922 human genbank 54_36p -1 validated missense c.193 p.N65H 0.96 NULL NULL - no_errors AP4B1 10717 genome.wustl.edu 36 1 114244294 114244294 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114244294 114244294 C T SNP AP4B1 NM_006594 human genbank 54_36p -1 validated missense c.869 p.R290H 0.98 "superfamily_ARM-type_fold,HMMPfam_Adaptin_N" "superfamily_ARM-type_fold,HMMPfam_Adaptin_N,HMMPfam_B2-adapt-app_C" - no_errors AP4B1 10717 genome.wustl.edu 36 1 114245902 114245902 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114245902 114245902 A C SNP AP4B1 NM_006594 human genbank 54_36p -1 validated missense c.467 p.V156G 1 "HMMPfam_Adaptin_N,superfamily_ARM-type_fold" "HMMPfam_Adaptin_N,HMMPfam_B2-adapt-app_C,superfamily_ARM-type_fold" - no_errors HIPK1 204851 genome.wustl.edu 36 1 114284738 114284738 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114284738 114284738 C G SNP HIPK1 NM_198268 human genbank 54_36p 1 reviewed nonsense c.210 p.Y70* 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors HIPK1 204851 genome.wustl.edu 36 1 114285144 114285144 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114285144 114285144 A G SNP HIPK1 NM_198268 human genbank 54_36p 1 reviewed missense c.616 p.K206E 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors SYT6 148281 genome.wustl.edu 36 1 114441903 114441903 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114441903 114441903 G C SNP SYT6 NM_205848 human genbank 54_36p -1 validated missense c.1229 p.S410C 1 superfamily_C2_CaLB "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SYT6 148281 genome.wustl.edu 36 1 114443407 114443407 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 114443407 114443407 G C SNP SYT6 NM_205848 human genbank 54_36p -1 validated missense c.941 p.P314R 1 "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors AMPD1 270 genome.wustl.edu 36 1 115019836 115019836 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 115019836 115019836 A G SNP AMPD1 NM_000036 human genbank 54_36p -1 reviewed missense c.1517 p.I506T 1 "superfamily_SSF51556,HMMPfam_A_deaminase" "superfamily_SSF51556,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE" - no_errors AMPD1 270 genome.wustl.edu 36 1 115033075 115033075 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 115033075 115033075 T C SNP AMPD1 ENST00000393268 human ensembl 54_36p -1 known missense c.4 p.I2V 0.05 NULL "HMMPfam_A_deaminase,PatternScan_A_DEAMINASE,superfamily_Metallo-dependent hydrolases" - no_start_codon CSDE1 7812 genome.wustl.edu 36 1 115083932 115083932 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 115083932 115083932 T G SNP CSDE1 NM_001007553 human genbank 54_36p -1 validated missense c.103 p.T35P 1 "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357" "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357,PatternScan_COLD_SHOCK,PatternScan_PEROXIDASE_2" - no_errors PTCHD2 57540 genome.wustl.edu 36 1 11518272 11518272 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11518272 11518272 C T SNP PTCHD2 NM_020780 human genbank 54_36p 1 validated missense c.3800 p.P1267L 1 "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors SLC22A15 55356 genome.wustl.edu 36 1 116363787 116363787 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 116363787 116363787 G C SNP SLC22A15 NM_018420 human genbank 54_36p 1 validated missense c.326 p.G109A 1 "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr" - no_errors ATP1A1 476 genome.wustl.edu 36 1 116734487 116734487 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 116734487 116734487 C T SNP ATP1A1 NM_000701 human genbank 54_36p 1 reviewed missense c.1153 p.R385W 1 "superfamily_Calcium ATPase transmembrane domain M,superfamily_HAD-like,HMMPfam_Hydrolase,superfamily_Metal cation-transporting ATPase ATP-binding domain N" ############################################################################################################################################################################################################################################################### - no_errors IGSF3 3321 genome.wustl.edu 36 1 116933217 116933217 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 116933217 116933217 T C SNP IGSF3 NM_001542 human genbank 54_36p -1 validated missense c.2122 p.T708A 1 "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG" "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig" - no_errors IGSF3 3321 genome.wustl.edu 36 1 116960585 116960585 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 116960585 116960585 G A SNP IGSF3 NM_001542 human genbank 54_36p -1 validated missense c.61 p.R21W 1 "HMMPfam_V-set,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,superfamily_SSF48726" - no_errors GDAP2 54834 genome.wustl.edu 36 1 118222153 118222153 + Splice_Site SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 118222153 118222153 C T SNP GDAP2 NM_017686 human genbank 54_36p -1 validated splice_site c.1446+1 e12+1 1 - - - no_errors SPAG17 200162 genome.wustl.edu 36 1 118307999 118307999 + Silent SNP T T C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 118307999 118307999 T C SNP SPAG17 NM_206996 human genbank 54_36p -1 validated silent c.6618 p.T2206 0.17 NULL NULL - no_errors NPPB 4879 genome.wustl.edu 36 1 11841068 11841068 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11841068 11841068 C A SNP NPPB NM_002521 human genbank 54_36p -1 reviewed nonsense c.178 p.E60* 0 HMMPfam_ANP "HMMPfam_ANP,HMMSmart_NAT_PEP,PatternScan_NATRIURETIC_PEPTIDE" - no_errors PLOD1 5351 genome.wustl.edu 36 1 11939569 11939569 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11939569 11939569 G A SNP PLOD1 NM_000302 human genbank 54_36p 1 reviewed missense c.652 p.V218M 0.99 NULL "HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy,PatternScan_LYS_HYDROXYLASE" - no_errors PLOD1 5351 genome.wustl.edu 36 1 11946867 11946867 + Silent SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 11946867 11946867 C T SNP PLOD1 NM_000302 human genbank 54_36p 1 reviewed silent c.1251 p.N417 1 NULL "PatternScan_LYS_HYDROXYLASE,HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc" - no_errors LOC343495 343495 genome.wustl.edu 36 1 119563486 119563486 + RNA SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119563486 119563486 C T SNP LOC343495 XR_016540 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene HSD3B2 3284 genome.wustl.edu 36 1 119766708 119766708 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119766708 119766708 A T SNP HSD3B2 NM_000198 human genbank 54_36p 1 validated missense c.1061 p.E354V 0.8 superfamily_NAD(P)-binding Rossmann-fold domains "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_3Beta_HSD" - no_errors LOC391073 391073 genome.wustl.edu 36 1 119778664 119778664 + RNA SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119778664 119778664 G T SNP LOC391073 XR_016552 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC391075 391075 genome.wustl.edu 36 1 119806459 119806459 + RNA SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119806459 119806459 A T SNP LOC391075 XR_016557 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene HSD3B1 3283 genome.wustl.edu 36 1 119858714 119858714 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119858714 119858714 G T SNP HSD3B1 NM_000862 human genbank 54_36p 1 validated missense c.1045 p.A349S 1 superfamily_NAD(P)-bd "superfamily_NAD(P)-bd,HMMPfam_3Beta_HSD" - no_errors MFN2 9927 genome.wustl.edu 36 1 11988549 11988549 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 11988549 11988549 C T SNP MFN2 NM_014874 human genbank 54_36p 1 reviewed missense c.1690 p.R564W 0.99 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,HMMPfam_Fzo_mitofusin" - no_errors LOC391081 391081 genome.wustl.edu 36 1 119953103 119953103 + RNA SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119953103 119953103 T A SNP LOC391081 XR_017445 human genbank 54_36p 1 model rna NULL NULL 0.07 - - - pseudogene ZNF697 90874 genome.wustl.edu 36 1 119970088 119970088 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 119970088 119970088 C T SNP ZNF697 NM_001080470 human genbank 54_36p -1 provisional silent c.159 p.P53 0 NULL "HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667" - no_errors HMGCS2 3158 genome.wustl.edu 36 1 120097460 120097460 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 120097460 120097460 G A SNP HMGCS2 NM_005518 human genbank 54_36p -1 validated silent c.1260 p.F420 0.96 "HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like" "HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like,PatternScan_HMG_COA_SYNTHASE,HMMPfam_HMG_CoA_synt_C" - no_errors MIIP 60672 genome.wustl.edu 36 1 12012533 12012533 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 12012533 12012533 C T SNP IIP45 NM_021933 human genbank 54_36p 1 validated silent c.840 p.H280 0.32 NULL NULL - no_errors REG4 83998 genome.wustl.edu 36 1 120138772 120138772 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 120138772 120138772 G A SNP REG4 NM_032044 human genbank 54_36p -1 validated nonsense c.469 p.R157* 0.02 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors NOTCH2 4853 genome.wustl.edu 36 1 120292618 120292618 + Silent SNP T T C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 120292618 120292618 T C SNP NOTCH2 NM_024408 human genbank 54_36p -1 reviewed silent c.2694 p.E898 0.71 "superfamily_SSF57196,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors PRAMEF12 390999 genome.wustl.edu 36 1 12757692 12757692 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 12757692 12757692 C G SNP PRAMEF12 NM_001080830 human genbank 54_36p 1 provisional missense c.95 p.P32R 0.18 NULL superfamily_SSF52047 - no_errors PRAMEF12 390999 genome.wustl.edu 36 1 12759868 12759868 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 12759868 12759868 C A SNP PRAMEF12 NM_001080830 human genbank 54_36p 1 provisional missense c.991 p.L331M 0.03 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRAMEF4 400735 genome.wustl.edu 36 1 12864794 12864794 + Missense_Mutation SNP A A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 12864794 12864794 A G SNP PRAMEF4 NM_001009611 human genbank 54_36p -1 validated missense c.343 p.W115R 0.09 superfamily_SSF52047 superfamily_SSF52047 - no_errors PRAMEF20 645425 genome.wustl.edu 36 1 13615538 13615538 + Missense_Mutation SNP G C C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 13615538 13615538 G C SNP PRAMEF20 NM_001099852 human genbank 54_36p 1 provisional missense c.140 p.R47T 0 superfamily_SSF52047 superfamily_SSF52047 - no_errors PPIAL4G 644591 genome.wustl.edu 36 1 142558964 142558964 + Silent SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 142558964 142558964 C T SNP PPIAL4G ENST00000369380 human ensembl 54_36p -1 known silent c.408 p.V136 1 "superfamily_CSA_PPIase,HMMPfam_Pro_isomerase" "superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors NOTCH2NL 388677 genome.wustl.edu 36 1 143984619 143984619 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 143984619 143984619 C A SNP NOTCH2NL NM_203458 human genbank 54_36p 1 validated missense c.116 p.T39N 1 "HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF" "PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL" - no_errors TXNIP 10628 genome.wustl.edu 36 1 144151420 144151420 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144151420 144151420 A G SNP TXNIP NM_006472 human genbank 54_36p 1 validated missense c.497 p.K166R 1 superfamily_Ig_E-set "superfamily_Ig_E-set,HMMPfam_Arrestin_N,HMMPfam_Arrestin_C" - no_errors TXNIP 10628 genome.wustl.edu 36 1 144151427 144151427 + Silent SNP T T A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144151427 144151427 T A SNP TXNIP NM_006472 human genbank 54_36p 1 validated silent c.504 p.V168 1 superfamily_Ig_E-set "HMMPfam_Arrestin_N,HMMPfam_Arrestin_C,superfamily_Ig_E-set" - no_errors LIX1L 128077 genome.wustl.edu 36 1 144209961 144209961 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 144209961 144209961 G C SNP LIX1L NM_153713 human genbank 54_36p 1 provisional missense c.840 p.W280C 1 NULL NULL - no_errors ITGA10 8515 genome.wustl.edu 36 1 144247129 144247129 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 144247129 144247129 G C SNP ITGA10 NM_003637 human genbank 54_36p 1 reviewed missense c.1960 p.V654L 0 "HMMSmart_SM00191,HMMPfam_Integrin_alpha2,superfamily_Integrin domains" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains" - no_errors ANKRD35 148741 genome.wustl.edu 36 1 144272487 144272487 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144272487 144272487 C G SNP ANKRD35 NM_144698 human genbank 54_36p 1 validated missense c.818 p.P273R 0.45 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors ANKRD35 148741 genome.wustl.edu 36 1 144273633 144273633 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144273633 144273633 A T SNP ANKRD35 NM_144698 human genbank 54_36p 1 validated missense c.1964 p.E655V 0.51 NULL "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" - no_errors POLR3C 10623 genome.wustl.edu 36 1 144319562 144319562 + Silent SNP A A G novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 144319562 144319562 A G SNP POLR3C NM_006468 human genbank 54_36p -1 provisional silent c.492 p.P164 0.09 HMMPfam_RNA_pol_Rpc82 "HMMPfam_RNA_pol_Rpc82,HMMPfam_HTH_9" - no_errors FMO5 2330 genome.wustl.edu 36 1 145163196 145163196 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G T G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 145163196 145163196 G T SNP FMO5 NM_001461 human genbank 54_36p -1 reviewed missense c.50 p.S17Y 0.01 "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FMO-like" "superfamily_FAD/NAD(P)-binding domain,HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains" - no_errors CHD1L 9557 genome.wustl.edu 36 1 145233735 145233735 + Splice_Site SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145233735 145233735 G A SNP CHD1L NM_004284 human genbank 54_36p 1 validated splice_site c.2616-1 e23-1 1 - - - no_errors BCL9 607 genome.wustl.edu 36 1 145558344 145558344 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C G C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA dbGAP Illumina GAIIx 1 145558344 145558344 C G SNP BCL9 NM_004326 human genbank 54_36p 1 reviewed missense c.1759 p.L587V 1 NULL NULL - no_errors BCL9 607 genome.wustl.edu 36 1 145559255 145559255 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145559255 145559255 G T SNP BCL9 NM_004326 human genbank 54_36p 1 reviewed silent c.2670 p.S890 0.97 NULL NULL - no_errors ACP6 51205 genome.wustl.edu 36 1 145593003 145593004 + Frame_Shift_Ins INS - - A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 - - - A - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 145593003 145593004 - A INS ACP6 NM_016361 human genbank 54_36p -1 validated frame_shift_ins c.710_709 p.D237fs 0.040:0.058 "superfamily_Phosphoglycerate mutase-like,HMMPfam_Acid_phosphat_A" "superfamily_Phosphoglycerate mutase-like,HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1" - no_errors ACP6 51205 genome.wustl.edu 36 1 145593008 145593008 + Silent SNP C C A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145593008 145593008 C A SNP ACP6 NM_016361 human genbank 54_36p -1 validated silent c.705 p.V235 0.78 "HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like" "HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1,superfamily_Phosphoglycerate mutase-like" - no_errors ACP6 51205 genome.wustl.edu 36 1 145598404 145598404 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145598404 145598404 G A SNP ACP6 NM_016361 human genbank 54_36p -1 validated silent c.330 p.Y110 0.36 "HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like" "HMMPfam_Acid_phosphat_A,PatternScan_HIS_ACID_PHOSPHAT_1,superfamily_Phosphoglycerate mutase-like" - no_errors GJA8 2703 genome.wustl.edu 36 1 145847875 145847875 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145847875 145847875 A G SNP GJA8 NM_005267 human genbank 54_36p 1 validated missense c.1169 p.K390R 0.44 NULL "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2,HMMPfam_Connexin50" - no_errors HIST2H3PS2 440686 genome.wustl.edu 36 1 147667142 147667142 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 147667142 147667142 G A SNP HIST2H3PS2 ENST00000369176 human ensembl 54_36p -1 known missense c.25 p.R9C 1 superfamily_Histone-fold "superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_H3,HMMPfam_Histone,PatternScan_HISTONE_H3_2" - no_errors FCGR1A 2209 genome.wustl.edu 36 1 148028407 148028407 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148028407 148028407 T C SNP FCGR1A NM_000566 human genbank 54_36p 1 reviewed missense c.733 p.Y245H 0.58 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors HIST2H2BE 8349 genome.wustl.edu 36 1 148124586 148124586 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148124586 148124586 C G SNP HIST2H2BE NM_003528 human genbank 54_36p -1 reviewed missense c.229 p.E77Q 1 "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone" "superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B" - no_errors HIST2H2AB 317772 genome.wustl.edu 36 1 148125788 148125788 + Silent SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148125788 148125788 G T SNP HIST2H2AB NM_175065 human genbank 54_36p -1 reviewed silent c.303 p.V101 1 "superfamily_Histone-fold,HMMSmart_H2A" "superfamily_Histone-fold,HMMSmart_H2A,HMMPfam_Histone,PatternScan_HISTONE_H2A" - no_errors BOLA1 51027 genome.wustl.edu 36 1 148138293 148138293 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148138293 148138293 G C SNP BOLA1 NM_016074 human genbank 54_36p 1 validated missense c.57 p.L19F 0.05 superfamily_BolA-like "superfamily_BolA-like,HMMPfam_BolA" - no_errors SV2A 9900 genome.wustl.edu 36 1 148147385 148147385 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148147385 148147385 C A SNP SV2A NM_014849 human genbank 54_36p -1 validated missense c.1362 p.W454C 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_2" - no_errors SV2A 9900 genome.wustl.edu 36 1 148147730 148147730 + Silent SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148147730 148147730 C A SNP SV2A NM_014849 human genbank 54_36p -1 validated silent c.1197 p.T399 0.01 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SV2A 9900 genome.wustl.edu 36 1 148147977 148147977 + Silent SNP T T G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148147977 148147977 T G SNP SV2A NM_014849 human genbank 54_36p -1 validated silent c.1179 p.S393 0.99 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SV2A 9900 genome.wustl.edu 36 1 148149002 148149002 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148149002 148149002 C A SNP SV2A NM_014849 human genbank 54_36p -1 validated missense c.955 p.G319W 1 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SV2A 9900 genome.wustl.edu 36 1 148151531 148151531 + Silent SNP G G A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148151531 148151531 G A SNP SV2A NM_014849 human genbank 54_36p -1 validated silent c.486 p.G162 1 superfamily_MFS general substrate transporter "PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors MTMR11 10903 genome.wustl.edu 36 1 148174218 148174218 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148174218 148174218 C G SNP MTMR11 ENST00000361405 human ensembl 54_36p -1 known missense c.84 p.E28D 1 superfamily_PH domain-like superfamily_PH domain-like - no_start_codon CA14 23632 genome.wustl.edu 36 1 148501180 148501180 + Splice_Site SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148501180 148501180 G A SNP CA14 NM_012113 human genbank 54_36p 1 reviewed splice_site c.257-1 e4-1 1 - - - no_errors APH1A 51107 genome.wustl.edu 36 1 148507029 148507029 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148507029 148507029 G C SNP APH1A NM_001077628 human genbank 54_36p -1 validated missense c.236 p.S79C 1 HMMPfam_Aph-1 HMMPfam_Aph-1 - no_errors PRPF3 9129 genome.wustl.edu 36 1 148574237 148574237 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148574237 148574237 C A SNP PRPF3 NM_004698 human genbank 54_36p 1 reviewed missense c.936 p.D312E 1 HMMPfam_PRP3 "superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI,HMMPfam_PRP3" - no_errors ADAMTSL4 54507 genome.wustl.edu 36 1 148794658 148794658 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148794658 148794658 G A SNP ADAMTSL4 NM_019032 human genbank 54_36p 1 reviewed missense c.1364 p.R455H 0.94 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors GOLPH3L 55204 genome.wustl.edu 36 1 148900984 148900984 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148900984 148900984 A T SNP GOLPH3L NM_018178 human genbank 54_36p -1 reviewed missense c.360 p.D120E 1 HMMPfam_GPP34 HMMPfam_GPP34 - no_errors HORMAD1 84072 genome.wustl.edu 36 1 148945692 148945692 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148945692 148945692 C G SNP HORMAD1 NM_032132 human genbank 54_36p -1 provisional missense c.765 p.R255S 0.94 NULL "superfamily_The spindle assembly checkpoint protein mad2,HMMPfam_HORMA" - no_errors HORMAD1 84072 genome.wustl.edu 36 1 148947432 148947432 + Silent SNP A A T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 148947432 148947432 A T SNP HORMAD1 NM_032132 human genbank 54_36p -1 provisional silent c.471 p.I157 1 "HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2" "HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2" - no_errors SETDB1 9869 genome.wustl.edu 36 1 149188556 149188556 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149188556 149188556 C G SNP SETDB1 NM_012432 human genbank 54_36p 1 reviewed missense c.1511 p.S504C 1 NULL "HMMSmart_TUDOR,HMMPfam_MBD,superfamily_DNA-binding_integrase-type,HMMSmart_MBD,superfamily_SSF82199,HMMSmart_PreSET,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET" - no_errors SCNM1 79005 genome.wustl.edu 36 1 149407395 149407395 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149407395 149407395 C A SNP SCNM1 NM_024041 human genbank 54_36p 1 validated missense c.550 p.P184T 0.97 NULL NULL - no_errors TMOD4 29765 genome.wustl.edu 36 1 149410549 149410549 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149410549 149410549 C A SNP TMOD4 NM_013353 human genbank 54_36p -1 validated missense c.710 p.G237V 1 "HMMPfam_Tropomodulin,superfamily_RNI-like" "HMMPfam_Tropomodulin,superfamily_RNI-like" - no_errors PIP5K1A 8394 genome.wustl.edu 36 1 149471789 149471789 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149471789 149471789 C G SNP PIP5K1A NM_003557 human genbank 54_36p 1 validated missense c.586 p.P196A 1 "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" - no_errors ZNF687 57592 genome.wustl.edu 36 1 149525896 149525896 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149525896 149525896 G A SNP ZNF687 NM_020832 human genbank 54_36p 1 provisional missense c.505 p.E169K 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors PI4KB 5298 genome.wustl.edu 36 1 149555082 149555082 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149555082 149555082 A C SNP PI4KB NM_002651 human genbank 54_36p -1 provisional missense c.536 p.F179C 1 NULL "superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors RFX5 5993 genome.wustl.edu 36 1 149581309 149581309 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149581309 149581309 C T SNP RFX5 NM_000449 human genbank 54_36p -1 reviewed missense c.1828 p.D610N 1 NULL "HMMPfam_RFX_DNA_binding,superfamily_SSF46785" - no_errors PSMB4 5692 genome.wustl.edu 36 1 149639206 149639206 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149639206 149639206 G T SNP PSMB4 NM_002796 human genbank 54_36p 1 reviewed missense c.266 p.R89L 0.96 "superfamily_SSF56235,HMMPfam_Proteasome,PatternScan_PROTEASOME_B" "superfamily_SSF56235,HMMPfam_Proteasome,PatternScan_PROTEASOME_B" - no_errors POGZ 23126 genome.wustl.edu 36 1 149644636 149644636 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149644636 149644636 C A SNP POGZ NM_015100 human genbank 54_36p -1 reviewed missense c.3499 p.G1167C 1 HMMPfam_DDE "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMPfam_CenpB-DNA-bind,superfamily_Homeodomain-like,HMMSmart_SM00674,HMMPfam_DDE" - no_errors POGZ 23126 genome.wustl.edu 36 1 149667379 149667379 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149667379 149667379 G C SNP POGZ NM_015100 human genbank 54_36p -1 reviewed missense c.703 p.L235V 1 NULL "HMMPfam_DDE,HMMSmart_SM00674,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMPfam_CenpB-DNA-bind,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors CGN 57530 genome.wustl.edu 36 1 149774954 149774954 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149774954 149774954 G A SNP CGN NM_020770 human genbank 54_36p 1 validated silent c.3153 p.E1051 0.97 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_tail_1 - no_errors CGN 57530 genome.wustl.edu 36 1 149775932 149775932 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 149775932 149775932 G A SNP CGN NM_020770 human genbank 54_36p 1 validated missense c.3409 p.E1137K 1 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_tail_1 - no_errors THEM5 284486 genome.wustl.edu 36 1 150090247 150090247 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150090247 150090247 C A SNP THEM5 NM_182578 human genbank 54_36p -1 validated nonsense c.370 p.G124* 0.97 superfamily_SSF54637 "superfamily_SSF54637,HMMPfam_4HBT" - no_errors TCHHL1 126637 genome.wustl.edu 36 1 150326132 150326132 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150326132 150326132 T A SNP TCHHL1 NM_001008536 human genbank 54_36p -1 provisional missense c.650 p.K217M 0 NULL "PatternScan_S100_CABP,superfamily_SSF47473,HMMPfam_S_100" - no_errors TCHH 7062 genome.wustl.edu 36 1 150346934 150346934 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150346934 150346934 T C SNP TCHH NM_007113 human genbank 54_36p -1 provisional missense c.5383 p.R1795G 0.03 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1" - no_errors TCHH 7062 genome.wustl.edu 36 1 150348232 150348232 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150348232 150348232 A T SNP TCHH NM_007113 human genbank 54_36p -1 provisional missense c.4085 p.F1362Y 0 NULL "PatternScan_S100_CABP,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors HRNR 388697 genome.wustl.edu 36 1 150453461 150453461 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 150453461 150453461 C T SNP HRNR NM_001009931 human genbank 54_36p -1 validated missense c.7268 p.R2423Q 0 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK" - no_errors FLG 2312 genome.wustl.edu 36 1 150542311 150542311 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150542311 150542311 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.11675 p.R3892Q 0 NULL "superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin" - no_errors FLG 2312 genome.wustl.edu 36 1 150543537 150543537 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150543537 150543537 T G SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.10449 p.R3483S 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 genome.wustl.edu 36 1 150544733 150544733 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150544733 150544733 C G SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.9253 p.G3085R 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 genome.wustl.edu 36 1 150545961 150545961 + Silent SNP A A G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 150545961 150545961 A G SNP FLG NM_002016 human genbank 54_36p -1 provisional silent c.8025 p.A2675 0 HMMPfam_Filaggrin "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 genome.wustl.edu 36 1 150547933 150547933 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150547933 150547933 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.6053 p.R2018K 0 HMMPfam_Filaggrin "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG 2312 genome.wustl.edu 36 1 150553539 150553539 + Silent SNP C C T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150553539 150553539 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional silent c.447 p.G149 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473" - no_errors FLG2 388698 genome.wustl.edu 36 1 150591310 150591310 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150591310 150591310 T G SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.5576 p.Q1859P 0 NULL "superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin" - no_errors FLG2 388698 genome.wustl.edu 36 1 150592525 150592525 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150592525 150592525 T C SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.4361 p.H1454R 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 388698 genome.wustl.edu 36 1 150593530 150593530 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150593530 150593530 C A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.3356 p.G1119V 0.03 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 388698 genome.wustl.edu 36 1 150594500 150594500 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150594500 150594500 G T SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.2386 p.Q796K 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors FLG2 388698 genome.wustl.edu 36 1 150595558 150595558 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150595558 150595558 T A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.1328 p.E443V 0 NULL "PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473" - no_errors CRNN 49860 genome.wustl.edu 36 1 150650016 150650016 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150650016 150650016 C T SNP CRNN NM_016190 human genbank 54_36p -1 reviewed missense c.166 p.E56K 0.98 "superfamily_SSF47473,HMMPfam_efhand" "superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors LCE3E 353145 genome.wustl.edu 36 1 150805082 150805082 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150805082 150805082 C T SNP LCE3E NM_178435 human genbank 54_36p -1 validated missense c.227 p.G76D 0.43 NULL NULL - no_errors KPRP 448834 genome.wustl.edu 36 1 150998716 150998716 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 150998716 150998716 C T SNP KPRP NM_001025231 human genbank 54_36p 1 provisional missense c.28 p.R10C 0.01 NULL NULL - no_errors KPRP 448834 genome.wustl.edu 36 1 151000349 151000349 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151000349 151000349 G A SNP KPRP NM_001025231 human genbank 54_36p 1 provisional missense c.1661 p.R554Q 0.01 NULL NULL - no_errors LCE1A 353131 genome.wustl.edu 36 1 151066620 151066620 + Silent SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151066620 151066620 C T SNP LCE1A NM_178348 human genbank 54_36p 1 validated silent c.48 p.C16 0.86 NULL NULL - no_errors IVL 3713 genome.wustl.edu 36 1 151149202 151149202 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151149202 151149202 A C SNP IVL NM_005547 human genbank 54_36p 1 reviewed missense c.305 p.E102A 0 NULL "PatternScan_INVOLUCRIN,HMMPfam_Involucrin_N,HMMPfam_Involucrin" - no_errors LELP1 149018 genome.wustl.edu 36 1 151444086 151444086 + Silent SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151444086 151444086 C T SNP LELP1 NM_001010857 human genbank 54_36p 1 provisional silent c.279 p.P93 0.95 NULL NULL - no_errors PGLYRP3 114771 genome.wustl.edu 36 1 151549717 151549717 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151549717 151549717 C T SNP PGLYRP3 NM_052891 human genbank 54_36p -1 provisional missense c.49 p.A17T 0.02 NULL "superfamily_Amidase_2,HMMSmart_PGRP,HMMPfam_Amidase_2,HMMSmart_Ami_2" - no_errors PGLYRP4 57115 genome.wustl.edu 36 1 151584401 151584401 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151584401 151584401 G A SNP PGLYRP4 NM_020393 human genbank 54_36p -1 validated missense c.221 p.T74M 0 "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2" "superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2" - no_errors NPR1 4881 genome.wustl.edu 36 1 151926302 151926302 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 151926302 151926302 C A SNP NPR1 NM_000906 human genbank 54_36p 1 validated silent c.1938 p.G646 0.76 "HMMSmart_SM00219,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase" ############################################################################################################################################################################################################################################################### - no_errors INTS3 65123 genome.wustl.edu 36 1 152009314 152009314 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152009314 152009314 G C SNP INTS3 NM_023015 human genbank 54_36p 1 validated missense c.2406 p.W802C 1 NULL HMMPfam_DUF2356 - no_errors SLC27A3 11000 genome.wustl.edu 36 1 152017344 152017344 + Silent SNP C C A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152017344 152017344 C A SNP SLC27A3 NM_024330 human genbank 54_36p 1 provisional silent c.1386 p.R462 1 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors DENND4B 9909 genome.wustl.edu 36 1 152169831 152169831 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152169831 152169831 T A SNP DENND4B NM_014856 human genbank 54_36p -1 validated missense c.4241 p.E1414V 1 NULL "HMMSmart_uDENN,HMMPfam_uDENN,HMMPfam_DENN,HMMSmart_DENN,HMMPfam_dDENN,HMMSmart_dDENN,HMMPfam_PPR" - no_errors DENND4B 9909 genome.wustl.edu 36 1 152170166 152170167 + Splice_Site INS - - G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 - - - G - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152170166 152170167 - G INS DENND4B NM_014856 human genbank 54_36p -1 validated splice_site_ins c.3997-3_3997-2 e24-2 0.995:0.981 - - - no_errors NUP210L 91181 genome.wustl.edu 36 1 152262372 152262372 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152262372 152262372 A T SNP NUP210L NM_207308 human genbank 54_36p -1 validated missense c.4148 p.V1383E 0.99 NULL "superfamily_Invasin_intimin,HMMSmart_BID_2,HMMPfam_Big_2" - no_errors NUP210L 91181 genome.wustl.edu 36 1 152285218 152285218 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 152285218 152285218 C A SNP NUP210L NM_207308 human genbank 54_36p -1 validated missense c.3647 p.W1216L 1 NULL "HMMPfam_Big_2,HMMSmart_BID_2,superfamily_Invasin_intimin" - no_errors NUP210L 91181 genome.wustl.edu 36 1 152299686 152299686 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152299686 152299686 T G SNP NUP210L NM_207308 human genbank 54_36p -1 validated missense c.2804 p.Q935P 0.11 NULL "HMMPfam_Big_2,HMMSmart_BID_2,superfamily_Invasin_intimin" - no_errors NUP210L 91181 genome.wustl.edu 36 1 152365549 152365549 + Silent SNP T T C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152365549 152365549 T C SNP NUP210L NM_207308 human genbank 54_36p -1 validated silent c.1200 p.T400 0 NULL "HMMPfam_Big_2,HMMSmart_BID_2,superfamily_Invasin_intimin" - no_errors UBAP2L 9898 genome.wustl.edu 36 1 152490376 152490376 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152490376 152490376 G C SNP UBAP2L NM_014847 human genbank 54_36p 1 validated missense c.1449 p.Q483H 1 NULL "HMMPfam_UBA,HMMSmart_SM00165" - no_errors KIAA1026 23254 genome.wustl.edu 36 1 15264712 15264712 + Splice_Site SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 15264712 15264712 G T SNP KIAA1026 NM_201628 human genbank 54_36p 1 validated splice_site c.1099-1 e8-1 1 - - - no_errors IL6R 3570 genome.wustl.edu 36 1 152673740 152673740 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 152673740 152673740 G A SNP IL6R NM_000565 human genbank 54_36p 1 reviewed missense c.580 p.V194I 0.05 "superfamily_Fibronectin type III,HMMPfam_IL6Ra-bind" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMPfam_IL6Ra-bind,PatternScan_HEMATOPO_REC_L_F3,HMMSmart_SM00060,HMMPfam_fn3" - no_errors SHC1 6464 genome.wustl.edu 36 1 153209367 153209367 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153209367 153209367 G A SNP SHC1 NM_183001 human genbank 54_36p -1 validated missense c.260 p.A87V 0.1 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors FLAD1 80308 genome.wustl.edu 36 1 153227424 153227424 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153227424 153227424 G C SNP FLAD1 NM_025207 human genbank 54_36p 1 reviewed missense c.592 p.E198Q 0.31 "superfamily_Molybdenum cofactor biosynthesis proteins,HMMPfam_MoCF_biosynth" "PatternScan_CARBAMOYLTRANSFERASE,superfamily_Molybdenum cofactor biosynthesis proteins,HMMPfam_MoCF_biosynth,superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_PAPS_reduct" - no_errors DCST2 127579 genome.wustl.edu 36 1 153269192 153269192 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153269192 153269192 A C SNP DCST2 NM_144622 human genbank 54_36p -1 validated missense c.1169 p.I390S 1 HMMPfam_DC_STAMP HMMPfam_DC_STAMP - no_errors ADAM15 8751 genome.wustl.edu 36 1 153296343 153296343 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 153296343 153296343 C T SNP ADAM15 NM_207197 human genbank 54_36p 1 reviewed missense c.1204 p.L402F 0.99 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2" - no_errors RAG1AP1 55974 genome.wustl.edu 36 1 153377158 153377158 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153377158 153377158 G A SNP RAG1AP1 NM_018845 human genbank 54_36p 1 validated nonsense c.524 p.W175* 1 HMMPfam_MtN3_slv HMMPfam_MtN3_slv - no_errors TRIM46 80128 genome.wustl.edu 36 1 153421128 153421128 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153421128 153421128 C G SNP TRIM46 NM_025058 human genbank 54_36p 1 validated missense c.1765 p.Q589E 1 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors SCAMP3 10067 genome.wustl.edu 36 1 153492747 153492747 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 153492747 153492747 G A SNP SCAMP3 NM_005698 human genbank 54_36p -1 reviewed nonsense c.985 p.R329* 1 NULL HMMPfam_SCAMP - no_errors HCN3 57657 genome.wustl.edu 36 1 153520961 153520961 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153520961 153520961 C T SNP HCN3 NM_020897 human genbank 54_36p 1 validated missense c.878 p.S293L 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding" - no_errors ASH1L 55870 genome.wustl.edu 36 1 153614790 153614792 + In_Frame_Del DEL TCA TCA - novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 TCA TCA TCA - TCA TCA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153614790 153614792 TCA - DEL ASH1L NM_018489 human genbank 54_36p -1 reviewed in_frame_del c.6238_6236 p.D2079in_frame_del 1.000:1.000:1.000 superfamily_SET domain ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[153614696,153614804])" no_errors YY1AP1 55249 genome.wustl.edu 36 1 153905118 153905118 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153905118 153905118 G C SNP YY1AP1 NM_139118 human genbank 54_36p -1 reviewed missense c.941 p.T314S 0.12 NULL NULL - no_errors GON4L 54856 genome.wustl.edu 36 1 153993466 153993466 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 153993466 153993466 C T SNP GON4L NM_001037533 human genbank 54_36p -1 validated silent c.5424 p.L1808 1 NULL "superfamily_PAH2 domain,HMMPfam_PAH,superfamily_Homeodomain-like" - no_errors LMNA 4000 genome.wustl.edu 36 1 154363312 154363312 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154363312 154363312 C T SNP LMNA ENST00000368297 human ensembl 54_36p 1 known missense c.95 p.A32V 0.1 NULL "HMMPfam_Filament,PatternScan_IF,superfamily_SSF74853,HMMPfam_IF_tail" - no_errors LMNA 4000 genome.wustl.edu 36 1 154370932 154370932 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154370932 154370932 A G SNP LMNA NM_170707 human genbank 54_36p 1 reviewed missense c.628 p.I210V 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF,superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail" - no_errors LMNA 4000 genome.wustl.edu 36 1 154371347 154371347 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154371347 154371347 T G SNP LMNA NM_170707 human genbank 54_36p 1 reviewed missense c.767 p.V256G 1 HMMPfam_Filament "HMMPfam_IF_tail,HMMPfam_Filament,PatternScan_IF,superfamily_Lamin A/C globular tail domain" - no_errors SMG5 23381 genome.wustl.edu 36 1 154499939 154499939 + Silent SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154499939 154499939 G A SNP SMG5 NM_015327 human genbank 54_36p -1 validated silent c.1902 p.R634 0.46 NULL "HMMPfam_EST1,HMMSmart_PINc" - no_errors VHLL 391104 genome.wustl.edu 36 1 154535367 154535367 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154535367 154535367 A C SNP VHLL NM_001004319 human genbank 54_36p -1 provisional missense c.238 p.Y80D 0.53 "HMMPfam_VHL,superfamily_SSF49468" "HMMPfam_VHL,superfamily_SSF49468" - no_errors MEF2D 4209 genome.wustl.edu 36 1 154718872 154718872 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154718872 154718872 G C SNP MEF2D NM_005920 human genbank 54_36p -1 provisional missense c.239 p.T80S 1 superfamily_SRF-like "HMMSmart_SM00432,superfamily_SRF-like,PatternScan_MADS_BOX_1,HMMPfam_SRF-TF" - no_errors IQGAP3 128239 genome.wustl.edu 36 1 154788499 154788499 + Silent SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154788499 154788499 G C SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated silent c.1461 p.A487 0.95 NULL "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,HMMSmart_IQ,superfamily_SSF52540,HMMPfam_IQ,superfamily_Rho_GAP,HMMSmart_RasGAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C" - no_errors IQGAP3 128239 genome.wustl.edu 36 1 154799639 154799639 + Silent SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154799639 154799639 G A SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated silent c.709 p.L237 1 NULL "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_RasGAP_C,HMMPfam_CH,HMMSmart_CH,HMMPfam_RasGAP,HMMSmart_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_Rho_GAP,superfamily_Calponin-homology,superfamily_SSF52540" - no_errors NES 10763 genome.wustl.edu 36 1 154906180 154906180 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 154906180 154906180 C T SNP NES NM_006617 human genbank 54_36p -1 reviewed missense c.4424 p.G1475D 0 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors NES 10763 genome.wustl.edu 36 1 154907174 154907174 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 154907174 154907174 G T SNP NES NM_006617 human genbank 54_36p -1 reviewed missense c.3430 p.L1144I 0 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors INSRR 3645 genome.wustl.edu 36 1 155090326 155090326 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155090326 155090326 G C SNP INSRR NM_014215 human genbank 54_36p -1 validated missense c.479 p.P160R 0.58 superfamily_SSF52058 ############################################################################################################################################################################################################################################################### - no_errors NTRK1 4914 genome.wustl.edu 36 1 155104547 155104547 + Silent SNP T T C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155104547 155104547 T C SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed silent c.456 p.C152 1 "superfamily_L domain-like,HMMSmart_SM00082" ############################################################################################################################################################################################################################################################### - no_errors NTRK1 4914 genome.wustl.edu 36 1 155115634 155115634 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155115634 155115634 C T SNP NTRK1 NM_002529 human genbank 54_36p 1 reviewed silent c.1902 p.V634 0.99 "HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)" ############################################################################################################################################################################################################################################################### - no_errors C1orf92 149499 genome.wustl.edu 36 1 155164045 155164045 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155164045 155164045 G A SNP C1orf92 NM_144702 human genbank 54_36p 1 validated missense c.151 p.D51N 1 superfamily_SSF52047 superfamily_SSF52047 - no_errors ARHGEF11 9826 genome.wustl.edu 36 1 155176012 155176012 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155176012 155176012 C T SNP ARHGEF11 NM_198236 human genbank 54_36p -1 reviewed missense c.4048 p.D1350N 0.14 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,HMMSmart_RGS,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH" - no_errors ARHGEF11 9826 genome.wustl.edu 36 1 155192962 155192962 + Silent SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155192962 155192962 G A SNP ARHGEF11 NM_198236 human genbank 54_36p -1 reviewed silent c.1545 p.A515 1 "HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam" "HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMSmart_RGS,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_PH,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF50729" - no_errors FCRL5 83416 genome.wustl.edu 36 1 155764297 155764297 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155764297 155764297 C T SNP FCRL5 NM_031281 human genbank 54_36p -1 validated missense c.1694 p.R565H 0.75 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL5 83416 genome.wustl.edu 36 1 155779292 155779292 + Silent SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155779292 155779292 A C SNP FCRL5 NM_031281 human genbank 54_36p -1 validated silent c.1104 p.A368 0 "HMMSmart_SM00409,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors FCRL4 83417 genome.wustl.edu 36 1 155824329 155824329 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 155824329 155824329 C A SNP FCRL4 NM_031282 human genbank 54_36p -1 provisional missense c.512 p.G171V 0 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL3 115352 genome.wustl.edu 36 1 155915181 155915181 + Silent SNP T T C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155915181 155915181 T C SNP FCRL3 NM_052939 human genbank 54_36p -1 reviewed silent c.2148 p.E716 0.04 NULL "superfamily_Immunoglobulin,PatternScan_N6_MTASE,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL3 115352 genome.wustl.edu 36 1 155933778 155933778 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 155933778 155933778 A T SNP FCRL3 NM_052939 human genbank 54_36p -1 reviewed missense c.620 p.M207K 0.91 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "PatternScan_N6_MTASE,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors FCRL1 115350 genome.wustl.edu 36 1 156038510 156038510 + Silent SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156038510 156038510 A G SNP FCRL1 NM_052938 human genbank 54_36p -1 provisional silent c.705 p.S235 0.52 "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors FCRL1 115350 genome.wustl.edu 36 1 156040398 156040398 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156040398 156040398 G A SNP FCRL1 NM_052938 human genbank 54_36p -1 provisional silent c.180 p.A60 0 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors KIRREL 55243 genome.wustl.edu 36 1 156327870 156327870 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 156327870 156327870 C T SNP KIRREL NM_018240 human genbank 54_36p 1 validated silent c.879 p.T293 1 "superfamily_SSF48726,HMMSmart_IG" "superfamily_SSF48726,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG" - no_errors CD1C 911 genome.wustl.edu 36 1 156529153 156529153 + Missense_Mutation SNP G G T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156529153 156529153 G T SNP CD1C NM_001765 human genbank 54_36p 1 reviewed missense c.754 p.G252C 0 "superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1" "superfamily_MHC_I/II-like_Ag-recog,HMMPfam_MHC_I,superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1" - no_errors CD1B 910 genome.wustl.edu 36 1 156565786 156565786 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156565786 156565786 C A SNP CD1B NM_001764 human genbank 54_36p -1 reviewed missense c.884 p.W295L 0.99 superfamily_Immunoglobulin "HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" - no_errors CELA2A 63036 genome.wustl.edu 36 1 15665172 15665172 + Silent SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 15665172 15665172 C T SNP ELA2A NM_033440 human genbank 54_36p 1 reviewed silent c.585 p.S195 0.07 "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin" "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors OR10K1 391109 genome.wustl.edu 36 1 156702418 156702418 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156702418 156702418 C A SNP OR10K1 NM_001004473 human genbank 54_36p 1 provisional missense c.443 p.A148D 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors CELA2B 51032 genome.wustl.edu 36 1 15680218 15680218 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 15680218 15680218 C G SNP ELA2B NM_015849 human genbank 54_36p 1 reviewed missense c.168 p.H56Q 1 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors OR10X1 128367 genome.wustl.edu 36 1 156816153 156816153 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156816153 156816153 G T SNP OR10X1 NM_001004477 human genbank 54_36p -1 provisional missense c.161 p.T54N 0.02 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SPTA1 6708 genome.wustl.edu 36 1 156850149 156850149 + Silent SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156850149 156850149 A C SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed silent c.6975 p.A2325 0.79 superfamily_EF-hand "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen" - no_errors SPTA1 6708 genome.wustl.edu 36 1 156873163 156873163 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156873163 156873163 T C SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.5202 p.I1734M 0.32 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Spectrin,HMMPfam_efhand_Ca_insen,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand" - no_errors SPTA1 6708 genome.wustl.edu 36 1 156904273 156904273 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156904273 156904273 T G SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.2037 p.K679N 1 "HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat" "HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Spectrin,HMMPfam_efhand_Ca_insen,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand" - no_errors OR6K3 391114 genome.wustl.edu 36 1 156954197 156954197 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 156954197 156954197 C G SNP OR6K3 NM_001005327 human genbank 54_36p -1 provisional missense c.381 p.E127D 0 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR6N1 128372 genome.wustl.edu 36 1 157002280 157002280 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157002280 157002280 C A SNP OR6N1 NM_001005185 human genbank 54_36p -1 provisional missense c.817 p.A273S 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MNDA 4332 genome.wustl.edu 36 1 157078761 157078761 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157078761 157078761 T G SNP MNDA NM_002432 human genbank 54_36p 1 reviewed missense c.194 p.L65R 0 HMMPfam_PAAD_DAPIN "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors MNDA 4332 genome.wustl.edu 36 1 157085639 157085639 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157085639 157085639 G A SNP MNDA NM_002432 human genbank 54_36p 1 reviewed missense c.1212 p.M404I 0 NULL "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors PYHIN1 149628 genome.wustl.edu 36 1 157175519 157175519 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157175519 157175519 A G SNP PYHIN1 NM_152501 human genbank 54_36p 1 validated missense c.437 p.E146G 0 NULL "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors PYHIN1 149628 genome.wustl.edu 36 1 157180391 157180391 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157180391 157180391 A T SNP PYHIN1 NM_152501 human genbank 54_36p 1 validated missense c.1190 p.Q397L 0.11 NULL "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors PYHIN1 149628 genome.wustl.edu 36 1 157181450 157181450 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157181450 157181450 C G SNP PYHIN1 NM_152501 human genbank 54_36p 1 validated missense c.1353 p.F451L 0.01 NULL "HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors IFI16 3428 genome.wustl.edu 36 1 157290096 157290096 + Silent SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157290096 157290096 G A SNP IFI16 NM_005531 human genbank 54_36p 1 reviewed silent c.2067 p.G689 0 NULL "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN" - no_errors DARC 2532 genome.wustl.edu 36 1 157442218 157442231 + Frame_Shift_Del DEL GCACTCGCAGCTCT GCACTCGCAGCTCT - novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 GCACTCGCAGCTCT GCACTCGCAGCTCT GCACTCGCAGCTCT - GCACTCGCAGCTCT GCACTCGCAGCTCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157442218 157442231 GCACTCGCAGCTCT - DEL DARC NM_002036 human genbank 54_36p 1 reviewed frame_shift_del c.365_378 p.T123fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL NULL "(deletion:cds_exon[157441875,157442864])" no_errors OR10J3 441911 genome.wustl.edu 36 1 157550271 157550271 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157550271 157550271 G A SNP OR10J3 NM_001004467 human genbank 54_36p -1 provisional missense c.803 p.S268F 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR10J1 26476 genome.wustl.edu 36 1 157602839 157602839 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 157602839 157602839 A G SNP OR10J1 ENST00000328408 human ensembl 54_36p 1 known missense c.265 p.S89G 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_stop_codon FCRL6 343413 genome.wustl.edu 36 1 158051862 158051862 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158051862 158051862 G C SNP FCRL6 NM_001004310 human genbank 54_36p 1 validated missense c.1168 p.V390L 0 NULL "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors IGSF9 57549 genome.wustl.edu 36 1 158166686 158166686 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158166686 158166686 G A SNP IGSF9 NM_020789 human genbank 54_36p -1 validated missense c.1933 p.R645W 0.8 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors IGSF9 57549 genome.wustl.edu 36 1 158179380 158179380 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158179380 158179380 C T SNP IGSF9 NM_020789 human genbank 54_36p -1 validated missense c.244 p.V82M 0.99 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors SLAMF9 89886 genome.wustl.edu 36 1 158188870 158188870 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158188870 158188870 G T SNP SLAMF9 NM_033438 human genbank 54_36p -1 provisional missense c.470 p.S157Y 0.02 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_errors PIGM 93183 genome.wustl.edu 36 1 158267377 158267377 + Silent SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158267377 158267377 A G SNP PIGM NM_145167 human genbank 54_36p -1 reviewed silent c.777 p.F259 0.99 HMMPfam_Mannosyl_trans HMMPfam_Mannosyl_trans - no_errors KCNJ10 3766 genome.wustl.edu 36 1 158277963 158277963 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 158277963 158277963 G T SNP KCNJ10 NM_002241 human genbank 54_36p -1 reviewed missense c.984 p.S328R 1 "HMMPfam_IRK,superfamily_E set domains" "superfamily_Voltage-gated potassium channels,HMMPfam_IRK,superfamily_E set domains" - no_errors LOC388707 388707 genome.wustl.edu 36 1 158503240 158503240 + RNA SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 158503240 158503240 G C SNP LOC388707 XR_017679 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RSC1A1 6248 genome.wustl.edu 36 1 15859164 15859164 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 15859164 15859164 C G SNP RSC1A1 NM_006511 human genbank 54_36p 1 provisional missense c.214 p.L72V 0.1 NULL HMMSmart_UBA - no_errors ITLN1 55600 genome.wustl.edu 36 1 159117595 159117595 + Silent SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159117595 159117595 C A SNP ITLN1 NM_017625 human genbank 54_36p -1 validated silent c.537 p.L179 0.07 superfamily_Fibrinogen C-terminal domain-like superfamily_Fibrinogen C-terminal domain-like - no_errors ITLN1 55600 genome.wustl.edu 36 1 159118580 159118580 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159118580 159118580 A T SNP ITLN1 NM_017625 human genbank 54_36p -1 validated missense c.196 p.Y66N 1 superfamily_Fibrinogen C-terminal domain-like superfamily_Fibrinogen C-terminal domain-like - no_errors LOC646347 646347 genome.wustl.edu 36 1 159132183 159132183 + RNA SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159132183 159132183 C A SNP LOC646347 XR_017680 human genbank 54_36p 1 model rna NULL NULL 0.94 - - - pseudogene ITLN2 142683 genome.wustl.edu 36 1 159187017 159187017 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159187017 159187017 T C SNP ITLN2 NM_080878 human genbank 54_36p -1 validated missense c.550 p.N184D 0 superfamily_Fibrinogen C-terminal domain-like superfamily_Fibrinogen C-terminal domain-like - no_errors ARHGAP30 257106 genome.wustl.edu 36 1 159285106 159285106 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159285106 159285106 G C SNP ARHGAP30 NM_001025598 human genbank 54_36p -1 validated missense c.2329 p.Q777E 0.01 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP30 257106 genome.wustl.edu 36 1 159288936 159288936 + Silent SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159288936 159288936 G A SNP ARHGAP30 NM_001025598 human genbank 54_36p -1 validated silent c.858 p.V286 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP" - no_errors PVRL4 81607 genome.wustl.edu 36 1 159309176 159309176 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159309176 159309176 T C SNP PVRL4 NM_030916 human genbank 54_36p -1 validated missense c.1432 p.I478V 0.99 NULL "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C2-set_2,HMMSmart_IGc2,HMMPfam_ig" - no_errors USP21 27005 genome.wustl.edu 36 1 159397428 159397428 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 159397428 159397428 C T SNP USP21 NM_001014443 human genbank 54_36p 1 reviewed missense c.374 p.A125V 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors USP21 27005 genome.wustl.edu 36 1 159398689 159398689 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159398689 159398689 C T SNP USP21 ENST00000401988 human ensembl 54_36p 1 known missense c.658 p.P220S 1 NULL "HMMPfam_UCH,superfamily_Cysteine proteinases" - no_errors MPZ 4359 genome.wustl.edu 36 1 159542580 159542580 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 159542580 159542580 G C SNP MPZ NM_000530 human genbank 54_36p -1 reviewed missense c.617 p.A206G 1 HMMPfam_Myelin-PO_N "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406,HMMPfam_Myelin-PO_N,PatternScan_MYELIN_P0" - no_errors LOC148430 148430 genome.wustl.edu 36 1 159643193 159643193 + RNA SNP C C G novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 159643193 159643193 C G SNP LOC148430 XR_017209 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ATF6 22926 genome.wustl.edu 36 1 160002790 160002790 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 160002790 160002790 G A SNP ATF6 NM_007348 human genbank 54_36p 1 validated missense c.16 p.G6R 0 NULL "HMMSmart_BRLZ,HMMPfam_bZIP_1,PatternScan_BZIP_BASIC" - no_errors ATF6 22926 genome.wustl.edu 36 1 160088228 160088228 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 160088228 160088228 T C SNP ATF6 NM_007348 human genbank 54_36p 1 validated missense c.1412 p.I471T 0.18 NULL "HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1" - no_errors SPEN 23013 genome.wustl.edu 36 1 16073415 16073415 + Silent SNP T T C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16073415 16073415 T C SNP SPEN ENST00000375753 human ensembl 54_36p 1 known silent c.219 p.Y73 1 NULL "superfamily_SSF54928,HMMSmart_RRM" - no_stop_codon SPEN 23013 genome.wustl.edu 36 1 16075631 16075631 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16075631 16075631 G C SNP SPEN NM_015001 human genbank 54_36p 1 reviewed missense c.752 p.R251T 1 NULL "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC" - no_errors UAP1 6675 genome.wustl.edu 36 1 160835707 160835707 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 160835707 160835707 A G SNP UAP1 NM_003115 human genbank 54_36p 1 validated missense c.1448 p.D483G 1 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_UDPGP" - no_errors DDR2 4921 genome.wustl.edu 36 1 160989543 160989543 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 160989543 160989543 C T SNP DDR2 NM_001014796 human genbank 54_36p 1 reviewed silent c.117 p.G39 1 "HMMSmart_FA58C,superfamily_Gal_bind_like" "HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II" - no_errors SPEN 23013 genome.wustl.edu 36 1 16129028 16129028 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16129028 16129028 G C SNP SPEN NM_015001 human genbank 54_36p 1 reviewed missense c.3706 p.D1236H 1 NULL "HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928" - no_errors RGS4 5999 genome.wustl.edu 36 1 161309978 161309978 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 161309978 161309978 T A SNP RGS4 NM_001102445 human genbank 54_36p 1 reviewed missense c.611 p.L204Q 0.97 "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors NUF2 83540 genome.wustl.edu 36 1 161564699 161564699 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 161564699 161564699 A C SNP NUF2 NM_031423 human genbank 54_36p 1 reviewed missense c.256 p.S86R 1 HMMPfam_Nuf2 HMMPfam_Nuf2 - no_errors NUF2 83540 genome.wustl.edu 36 1 161585425 161585425 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 161585425 161585425 A T SNP NUF2 NM_031423 human genbank 54_36p 1 reviewed missense c.1191 p.E397D 0.67 NULL HMMPfam_Nuf2 - no_errors CLCNKA 1187 genome.wustl.edu 36 1 16223895 16223895 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 16223895 16223895 C T SNP CLCNKA NM_004070 human genbank 54_36p 1 reviewed missense c.280 p.L94F 1 superfamily_Cl-channel_core "HMMPfam_CBS,HMMSmart_CBS,HMMPfam_Voltage_CLC,superfamily_Cl-channel_core,superfamily_SSF54631" - no_errors EPHA2 1969 genome.wustl.edu 36 1 16328605 16328605 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16328605 16328605 C G SNP EPHA2 NM_004431 human genbank 54_36p -1 reviewed missense c.2736 p.W912C 1 "superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" ############################################################################################################################################################################################################################################################### - no_errors ARHGEF19 128272 genome.wustl.edu 36 1 16397715 16397715 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16397715 16397715 T G SNP ARHGEF19 NM_153213 human genbank 54_36p -1 provisional missense c.2363 p.K788T 1 NULL "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1" - no_errors UCK2 7371 genome.wustl.edu 36 1 164139129 164139129 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 164139129 164139129 T C SNP UCK2 NM_012474 human genbank 54_36p 1 reviewed missense c.586 p.F196L 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_PRK" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_PRK" - no_errors LOC284685 284685 genome.wustl.edu 36 1 164512962 164512962 + RNA SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 164512962 164512962 C T SNP LOC284685 XR_017685 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene POGK 57645 genome.wustl.edu 36 1 165086065 165086065 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 165086065 165086065 C T SNP POGK NM_017542 human genbank 54_36p 1 reviewed missense c.1625 p.P542L 0.29 HMMPfam_DDE "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMPfam_BrkDBD,superfamily_Homeodomain-like,HMMPfam_CenpB-DNA-bind,HMMSmart_SM00674,HMMPfam_DDE" - no_errors TADA1 117143 genome.wustl.edu 36 1 165098153 165098153 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165098153 165098153 G C SNP TADA1L NM_053053 human genbank 54_36p -1 validated missense c.451 p.L151V 1 NULL NULL - no_errors ILDR2 387597 genome.wustl.edu 36 1 165172558 165172558 + Silent SNP G G A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165172558 165172558 G A SNP ILDR2 NM_199351 human genbank 54_36p -1 provisional silent c.597 p.L199 1 HMMPfam_LSR "superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_LSR" - no_errors DUSP27 92235 genome.wustl.edu 36 1 165362623 165362623 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165362623 165362623 T A SNP DUSP27 NM_001080426 human genbank 54_36p 1 provisional missense c.1631 p.L544Q 1 NULL "PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" - no_errors DUSP27 92235 genome.wustl.edu 36 1 165363883 165363883 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165363883 165363883 G A SNP DUSP27 NM_001080426 human genbank 54_36p 1 provisional missense c.2891 p.R964K 0.61 NULL "HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_DSPc,superfamily_SSF52799" - no_errors C1orf144 26099 genome.wustl.edu 36 1 16592355 16592356 + Frame_Shift_Ins INS - - ATTGT novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 16592355 16592356 - ATTGT INS C1orf144 NM_015609 human genbank 54_36p 1 provisional frame_shift_ins c.90_91 p.D30fs 1.000:1.000 NULL NULL - no_errors RCSD1 92241 genome.wustl.edu 36 1 165925967 165925967 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 165925967 165925967 A T SNP RCSD1 NM_052862 human genbank 54_36p 1 validated missense c.256 p.I86F 1 NULL HMMPfam_RCSD - no_errors SPATA21 374955 genome.wustl.edu 36 1 16598576 16598576 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16598576 16598576 T C SNP SPATA21 NM_198546 human genbank 54_36p -1 provisional missense c.1202 p.Q401R 0.99 NULL "superfamily_SSF47473,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors MPZL1 9019 genome.wustl.edu 36 1 166001554 166001554 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 166001554 166001554 G A SNP MPZL1 NM_003953 human genbank 54_36p 1 validated missense c.202 p.G68R 0.16 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" - no_errors MPZL1 9019 genome.wustl.edu 36 1 166009187 166009187 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 166009187 166009187 C G SNP MPZL1 NM_003953 human genbank 54_36p 1 validated missense c.563 p.A188G 0.94 NULL "HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors ADCY10 55811 genome.wustl.edu 36 1 166119382 166119382 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 166119382 166119382 C T SNP ADCY10 NM_018417 human genbank 54_36p -1 validated missense c.937 p.A313T 0.77 superfamily_Adenylyl and guanylyl cyclase catalytic domain "superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,superfamily_TPR-like" - no_errors SPATA21 374955 genome.wustl.edu 36 1 16621066 16621066 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 16621066 16621066 C T SNP SPATA21 ENST00000375584 human ensembl 54_36p -1 known missense c.700 p.V234I 0 NULL NULL - no_errors F5 2153 genome.wustl.edu 36 1 167750264 167750264 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 167750264 167750264 T A SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.6586 p.I2196F 1 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C" "superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_LSPR,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2" - no_errors F5 2153 genome.wustl.edu 36 1 167751388 167751388 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 167751388 167751388 T C SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.6446 p.Y2149C 1 "HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like" "HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxins,superfamily_Galactose-binding domain-like,HMMPfam_LSPR,HMMPfam_Cu-oxidase_3" - no_errors SELE 6401 genome.wustl.edu 36 1 167963921 167963921 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 167963921 167963921 C A SNP SELE NM_000450 human genbank 54_36p -1 reviewed missense c.1181 p.C394F 1 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" ############################################################################################################################################################################################################################################################### - no_errors BAT2L2 23215 genome.wustl.edu 36 1 169802148 169802148 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 169802148 169802148 G C SNP BAT2D1 ENST00000392080 human ensembl 54_36p 1 known missense c.6264 p.Q2088H 1 NULL HMMPfam_BAT2_N - no_errors CROCC 9696 genome.wustl.edu 36 1 17168359 17168359 + Silent SNP G G A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17168359 17168359 G A SNP CROCC NM_014675 human genbank 54_36p 1 validated silent c.5238 p.R1746 1 superfamily_Prefoldin superfamily_Prefoldin - no_errors SLC9A11 284525 genome.wustl.edu 36 1 171771678 171771678 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 171771678 171771678 C G SNP SLC9A11 NM_178527 human genbank 54_36p -1 validated missense c.1689 p.M563I 0.05 NULL "PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Na_H_Exchanger,HMMPfam_Ion_trans,HMMSmart_cNMP,superfamily_cNMP_binding,HMMPfam_cNMP_binding" - no_errors SLC9A11 284525 genome.wustl.edu 36 1 171812446 171812446 + Silent SNP C C T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 171812446 171812446 C T SNP SLC9A11 NM_178527 human genbank 54_36p -1 validated silent c.879 p.P293 0.02 HMMPfam_Na_H_Exchanger "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Na_H_Exchanger,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding" - no_errors ATP13A2 23400 genome.wustl.edu 36 1 17203855 17203855 + Silent SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17203855 17203855 C A SNP ATP13A2 NM_022089 human genbank 54_36p -1 reviewed silent c.396 p.A132 0.07 NULL ############################################################################################################################################################################################################################################################### - no_errors SERPINC1 462 genome.wustl.edu 36 1 172139768 172139768 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 172139768 172139768 G A SNP SERPINC1 NM_000488 human genbank 54_36p -1 validated missense c.1277 p.S426L 1 "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN" - no_errors RC3H1 149041 genome.wustl.edu 36 1 172220294 172220294 + Silent SNP T T C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 172220294 172220294 T C SNP RC3H1 NM_172071 human genbank 54_36p -1 validated silent c.318 p.L106 1 NULL "superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH" - no_errors PADI2 11240 genome.wustl.edu 36 1 17269215 17269215 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17269215 17269215 G T SNP PADI2 NM_007365 human genbank 54_36p -1 reviewed missense c.1719 p.F573L 1 "HMMPfam_PAD,superfamily_SSF55909" "HMMPfam_PAD_N,superfamily_Cupredoxin,HMMPfam_PAD_M,superfamily_PAD_central,HMMPfam_PAD,superfamily_SSF55909" - no_errors PADI2 11240 genome.wustl.edu 36 1 17274006 17274006 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17274006 17274006 G A SNP PADI2 NM_007365 human genbank 54_36p -1 reviewed missense c.1481 p.T494I 1 "HMMPfam_PAD,superfamily_SSF55909" "superfamily_Cupredoxin,HMMPfam_PAD,HMMPfam_PAD_N,HMMPfam_PAD_M,superfamily_PAD_central,superfamily_SSF55909" - no_errors PADI2 11240 genome.wustl.edu 36 1 17291556 17291556 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17291556 17291556 C T SNP PADI2 NM_007365 human genbank 54_36p -1 reviewed missense c.589 p.G197R 0.98 "HMMPfam_PAD_M,superfamily_PAD_central" "superfamily_Cupredoxin,HMMPfam_PAD,HMMPfam_PAD_N,HMMPfam_PAD_M,superfamily_PAD_central,superfamily_SSF55909" - no_errors TNR 7143 genome.wustl.edu 36 1 173560251 173560251 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 173560251 173560251 C A SNP TNR NM_003285 human genbank 54_36p -1 validated missense c.3821 p.R1274L 1 "HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like" "PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like" - no_errors PADI3 51702 genome.wustl.edu 36 1 17472520 17472520 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 17472520 17472520 A T SNP PADI3 NM_016233 human genbank 54_36p 1 reviewed missense c.1146 p.K382N 0.31 "HMMPfam_PAD,superfamily_SSF55909" "HMMPfam_PAD_N,superfamily_Cupredoxin,HMMPfam_PAD_M,superfamily_PAD_central,HMMPfam_PAD,superfamily_SSF55909" - no_errors PAPPA2 60676 genome.wustl.edu 36 1 174931581 174931581 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 174931581 174931581 T G SNP PAPPA2 NM_020318 human genbank 54_36p 1 validated missense c.2709 p.C903W 1 HMMPfam_Peptidase_M43 ############################################################################################################################################################################################################################################################### - no_errors PAPPA2 60676 genome.wustl.edu 36 1 174935170 174935170 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 174935170 174935170 G T SNP PAPPA2 NM_020318 human genbank 54_36p 1 validated missense c.3058 p.V1020L 0.95 NULL ############################################################################################################################################################################################################################################################### - no_errors PAPPA2 60676 genome.wustl.edu 36 1 174935189 174935189 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 174935189 174935189 A G SNP PAPPA2 NM_020318 human genbank 54_36p 1 validated missense c.3077 p.D1026G 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ASTN1 460 genome.wustl.edu 36 1 175104728 175104728 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175104728 175104728 C T SNP ASTN1 NM_004319 human genbank 54_36p -1 validated silent c.3522 p.Q1174 1 NULL "HMMSmart_EGF,HMMSmart_MACPF,superfamily_FN_III-like,HMMSmart_FN3" - no_errors ASTN1 460 genome.wustl.edu 36 1 175181690 175181705 + Frame_Shift_Del DEL TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC - novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC - TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175181690 175181705 TGTTCCTTTCAGCACC - DEL ASTN1 NM_004319 human genbank 54_36p -1 validated frame_shift_del c.2244_2229 p.Q743fs 0.969:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000 NULL "HMMSmart_MACPF,HMMSmart_FN3,HMMSmart_EGF,superfamily_FN_III-like" "(deletion:cds_exon[175181685,175181879])" no_errors ASTN1 460 genome.wustl.edu 36 1 175259324 175259324 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175259324 175259324 C A SNP ASTN1 NM_004319 human genbank 54_36p -1 validated missense c.1277 p.R426L 1 NULL "HMMSmart_MACPF,HMMSmart_FN3,HMMSmart_EGF,superfamily_FN_III-like" - no_errors ASTN1 460 genome.wustl.edu 36 1 175268522 175268522 + Silent SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175268522 175268522 G C SNP ASTN1 NM_004319 human genbank 54_36p -1 validated silent c.558 p.V186 0.63 NULL "HMMSmart_MACPF,HMMSmart_FN3,HMMSmart_EGF,superfamily_FN_III-like" - no_errors PADI4 23569 genome.wustl.edu 36 1 17547048 17547048 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17547048 17547048 A T SNP PADI4 NM_012387 human genbank 54_36p 1 reviewed missense c.1073 p.Q358L 1 "HMMPfam_PAD,superfamily_Pentein" "HMMPfam_PAD_N,superfamily_Cupredoxins,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,HMMPfam_PAD,superfamily_Pentein" - no_errors FAM5B 57795 genome.wustl.edu 36 1 175517201 175517201 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 175517201 175517201 G A SNP FAM5B NM_021165 human genbank 54_36p 1 provisional missense c.2266 p.V756M 1 NULL HMMSmart_SM00457 - no_errors PADI4 23569 genome.wustl.edu 36 1 17558442 17558442 + Silent SNP C C T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 17558442 17558442 C T SNP PADI4 NM_012387 human genbank 54_36p 1 reviewed silent c.1710 p.L570 1 "HMMPfam_PAD,superfamily_Pentein" "superfamily_Cupredoxins,HMMPfam_PAD,HMMPfam_PAD_N,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,superfamily_Pentein" - no_errors RASAL2 9462 genome.wustl.edu 36 1 176687333 176687333 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 176687333 176687333 G C SNP RASAL2 NM_170692 human genbank 54_36p 1 reviewed missense c.1578 p.E526D 1 "HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP" "HMMSmart_PH,superfamily_SSF50729,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1" - no_errors FAM20B 9917 genome.wustl.edu 36 1 177279865 177279865 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 177279865 177279865 T G SNP FAM20B NM_014864 human genbank 54_36p 1 validated missense c.260 p.V87G 1 NULL HMMPfam_DUF1193 - no_errors FAM20B 9917 genome.wustl.edu 36 1 177300122 177300122 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 177300122 177300122 G T SNP FAM20B NM_014864 human genbank 54_36p 1 validated missense c.806 p.G269V 1 HMMPfam_DUF1193 HMMPfam_DUF1193 - no_errors ARHGEF10L 55160 genome.wustl.edu 36 1 17823526 17823526 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 17823526 17823526 G A SNP ARHGEF10L NM_018125 human genbank 54_36p 1 validated missense c.1258 p.A420T 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,superfamily_WD40 repeat-like" - no_errors CEP350 9857 genome.wustl.edu 36 1 178290216 178290216 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 178290216 178290216 C T SNP CEP350 NM_014810 human genbank 54_36p 1 reviewed missense c.5215 p.R1739W 1 NULL "superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1" - no_errors CEP350 9857 genome.wustl.edu 36 1 178290231 178290231 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 178290231 178290231 G T SNP CEP350 NM_014810 human genbank 54_36p 1 reviewed missense c.5230 p.G1744C 1 NULL "HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Cap-Gly domain" - no_errors CEP350 9857 genome.wustl.edu 36 1 178328483 178328483 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 178328483 178328483 C G SNP CEP350 NM_014810 human genbank 54_36p 1 reviewed missense c.6617 p.P2206R 0.97 NULL "HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Cap-Gly domain" - no_errors QSOX1 5768 genome.wustl.edu 36 1 178432226 178432226 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 178432226 178432226 G A SNP QSOX1 NM_002826 human genbank 54_36p 1 reviewed missense c.1675 p.A559T 0.01 NULL "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,superfamily_FAD-dependent thiol oxidase,HMMPfam_Evr1_Alr" - no_errors KIAA1614 57710 genome.wustl.edu 36 1 179171458 179171458 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 179171458 179171458 C T SNP KIAA1614 NM_020950 human genbank 54_36p 1 validated missense c.1790 p.T597I 0.98 NULL NULL - no_errors STX6 10228 genome.wustl.edu 36 1 179225768 179225768 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 179225768 179225768 A G SNP STX6 NM_005819 human genbank 54_36p -1 validated missense c.464 p.I155T 1 NULL "superfamily_t-snare proteins,HMMPfam_Syntaxin-6_N,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN" - no_errors CACNA1E 777 genome.wustl.edu 36 1 179974914 179974914 + Silent SNP C C T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 179974914 179974914 C T SNP CACNA1E NM_000721 human genbank 54_36p 1 reviewed silent c.3621 p.D1207 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors CACNA1E 777 genome.wustl.edu 36 1 180034140 180034140 + Silent SNP G G T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180034140 180034140 G T SNP CACNA1E NM_000721 human genbank 54_36p 1 reviewed silent c.6360 p.P2120 0.32 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors ACTL8 81569 genome.wustl.edu 36 1 18025359 18025359 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18025359 18025359 C A SNP ACTL8 NM_030812 human genbank 54_36p 1 provisional missense c.859 p.L287M 0 "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" "superfamily_SSF53067,HMMPfam_Actin,HMMSmart_ACTIN" - no_errors ACTL8 81569 genome.wustl.edu 36 1 18025484 18025484 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18025484 18025484 G C SNP ACTL8 NM_030812 human genbank 54_36p 1 provisional missense c.984 p.W328C 0 "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" - no_errors ACTL8 81569 genome.wustl.edu 36 1 18025595 18025595 + Silent SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18025595 18025595 G A SNP ACTL8 NM_030812 human genbank 54_36p 1 provisional silent c.1095 p.R365 0 "HMMPfam_Actin,HMMSmart_ACTIN" "HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067" - no_errors TEDDM1 127670 genome.wustl.edu 36 1 180635534 180635534 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180635534 180635534 T C SNP TEDDM1 NM_172000 human genbank 54_36p -1 validated missense c.710 p.K237R 0 NULL HMMPfam_DUF716 - no_errors TEDDM1 127670 genome.wustl.edu 36 1 180635977 180635977 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180635977 180635977 C G SNP TEDDM1 NM_172000 human genbank 54_36p -1 validated missense c.267 p.K89N 0.06 NULL HMMPfam_DUF716 - no_errors RNASEL 6041 genome.wustl.edu 36 1 180811317 180811317 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180811317 180811317 C T SNP RNASEL NM_021133 human genbank 54_36p -1 reviewed missense c.2059 p.D687N 0.23 "HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580" - no_errors RNASEL 6041 genome.wustl.edu 36 1 180812026 180812026 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 180812026 180812026 T C SNP RNASEL NM_021133 human genbank 54_36p -1 reviewed missense c.2027 p.E676G 0 "HMMSmart_SM00580,HMMPfam_Ribonuc_2-5A" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00220,HMMSmart_SM00580,HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like)" - no_errors RNASEL 6041 genome.wustl.edu 36 1 180821901 180821901 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180821901 180821901 T A SNP RNASEL NM_021133 human genbank 54_36p -1 reviewed missense c.664 p.T222S 0 "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00220,HMMSmart_SM00580,HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like)" - no_errors RGS8 85397 genome.wustl.edu 36 1 180883954 180883954 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 180883954 180883954 G C SNP RGS8 NM_033345 human genbank 54_36p -1 reviewed missense c.355 p.L119V 1 "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors DHX9 1660 genome.wustl.edu 36 1 181112227 181112227 + Silent SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181112227 181112227 A G SNP DHX9 NM_001357 human genbank 54_36p 1 reviewed silent c.2052 p.L684 0.98 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C" ############################################################################################################################################################################################################################################################### - no_errors LAMC1 3915 genome.wustl.edu 36 1 181346371 181346371 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181346371 181346371 C G SNP LAMC1 NM_002293 human genbank 54_36p 1 reviewed missense c.980 p.P327R 1 "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_LAM_1" "HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMSmart_LamB,HMMPfam_Laminin_B,PatternScan_EGF_2" - no_errors LAMC1 3915 genome.wustl.edu 36 1 181360492 181360492 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181360492 181360492 T A SNP LAMC1 NM_002293 human genbank 54_36p 1 reviewed missense c.2505 p.D835E 1 "HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196" "HMMPfam_Laminin_B,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Grow_fac_recept,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_LamB,superfamily_SSF57196" - no_errors LAMC2 3918 genome.wustl.edu 36 1 181479120 181479120 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181479120 181479120 C G SNP LAMC2 NM_005562 human genbank 54_36p 1 reviewed missense c.3544 p.P1182A 0.98 NULL "HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_1,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_EGF_2,superfamily_Concanavalin A-like lectins/glucanases" - no_errors NCF2 4688 genome.wustl.edu 36 1 181796000 181796001 + Missense_Mutation DNP TC TC GT novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 TC TC TC GT TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181796000 181796001 TC GT DNP NCF2 NM_000433 human genbank 54_36p -1 reviewed missense c.1322_1321 p.E441T 0.006:0.005 superfamily_SH3 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF54277,HMMPfam_PB1,HMMSmart_PB1" - no_errors NCF2 4688 genome.wustl.edu 36 1 181810245 181810245 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181810245 181810245 C G SNP NCF2 NM_000433 human genbank 54_36p -1 reviewed missense c.501 p.W167C 1 superfamily_SSF48452 "HMMPfam_PB1,HMMSmart_PB1,HMMPfam_TPR_1,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMSmart_TPR,superfamily_SSF48452,superfamily_SSF54277" - no_errors NCF2 4688 genome.wustl.edu 36 1 181810298 181810298 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 181810298 181810298 T C SNP NCF2 NM_000433 human genbank 54_36p -1 reviewed missense c.448 p.M150V 0.81 "HMMSmart_TPR,superfamily_SSF48452" "HMMPfam_PB1,HMMSmart_PB1,HMMPfam_TPR_1,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMSmart_TPR,superfamily_SSF48452,superfamily_SSF54277" - no_errors RGL1 23179 genome.wustl.edu 36 1 182083355 182083355 + Silent SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 182083355 182083355 A G SNP RGL1 NM_015149 human genbank 54_36p 1 validated silent c.276 p.T92 0.98 superfamily_Ras GEF "superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF,superfamily_Ubiquitin-like,HMMPfam_RA,HMMSmart_SM00314" - no_errors RGL1 23179 genome.wustl.edu 36 1 182147925 182147925 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 182147925 182147925 G C SNP RGL1 NM_015149 human genbank 54_36p 1 validated missense c.1754 p.S585T 1 NULL "HMMPfam_RA,HMMSmart_SM00314,HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF,superfamily_Ubiquitin-like" - no_errors FAM129A 116496 genome.wustl.edu 36 1 183031338 183031338 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183031338 183031338 G C SNP FAM129A NM_052966 human genbank 54_36p -1 validated missense c.2183 p.P728R 0 NULL NULL - no_errors FAM129A 116496 genome.wustl.edu 36 1 183031339 183031339 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183031339 183031339 G T SNP FAM129A NM_052966 human genbank 54_36p -1 validated missense c.2182 p.P728T 0 NULL NULL - no_errors C1orf26 54823 genome.wustl.edu 36 1 183410550 183410550 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183410550 183410550 C T SNP C1orf26 NM_001105518 human genbank 54_36p 1 validated silent c.648 p.N216 0 NULL "superfamily_SSF88723,HMMSmart_PINc" - no_errors IVNS1ABP 10625 genome.wustl.edu 36 1 183533919 183533919 + Silent SNP C C G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183533919 183533919 C G SNP IVNS1ABP NM_006469 human genbank 54_36p -1 validated silent c.1800 p.G600 0.99 "superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors IVNS1ABP 10625 genome.wustl.edu 36 1 183545153 183545153 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 183545153 183545153 A T SNP IVNS1ABP NM_006469 human genbank 54_36p -1 validated nonsense c.96 p.C32* 1 "HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB" "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB" - no_errors HMCN1 83872 genome.wustl.edu 36 1 184159201 184159201 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184159201 184159201 G A SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.1078 p.D360N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 genome.wustl.edu 36 1 184258889 184258889 + Silent SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184258889 184258889 C T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.5730 p.H1910 1 "HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 genome.wustl.edu 36 1 184358857 184358857 + Silent SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184358857 184358857 C T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.12381 p.V4127 0.96 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 genome.wustl.edu 36 1 184402616 184402616 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184402616 184402616 G T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed missense c.15493 p.D5165Y 1 "HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors HMCN1 83872 genome.wustl.edu 36 1 184418038 184418038 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184418038 184418038 C T SNP HMCN1 NM_031935 human genbank 54_36p 1 reviewed silent c.16410 p.C5470 1 "HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors TPR 7175 genome.wustl.edu 36 1 184595581 184595581 + Silent SNP T T C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184595581 184595581 T C SNP TPR NM_003292 human genbank 54_36p -1 reviewed silent c.1362 p.L454 0.99 NULL "superfamily_Prefoldin,HMMPfam_TPR_MLP1_2" - no_errors PTGS2 5743 genome.wustl.edu 36 1 184912345 184912345 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 184912345 184912345 C T SNP PTGS2 NM_000963 human genbank 54_36p -1 reviewed missense c.847 p.G283S 0.99 "superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" "superfamily_EGF/Laminin,HMMPfam_EGF,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase" - no_errors PLA2G4A 5321 genome.wustl.edu 36 1 185186473 185186473 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 185186473 185186473 C G SNP PLA2G4A NM_024420 human genbank 54_36p 1 reviewed missense c.1326 p.H442Q 0.96 "HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B,PatternScan_PPASE,PatternScan_SUBTILASE_ASP" - no_errors IGSF21 84966 genome.wustl.edu 36 1 18577378 18577378 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18577378 18577378 G A SNP IGSF21 NM_032880 human genbank 54_36p 1 provisional missense c.1375 p.A459T 1 NULL "superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG" - no_errors KLHDC7A 127707 genome.wustl.edu 36 1 18680136 18680136 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18680136 18680136 C G SNP KLHDC7A NM_152375 human genbank 54_36p 1 validated missense c.74 p.A25G 0.82 NULL "superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors KLHDC7A 127707 genome.wustl.edu 36 1 18680771 18680771 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18680771 18680771 G A SNP KLHDC7A NM_152375 human genbank 54_36p 1 validated missense c.709 p.G237R 0.01 NULL "HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central" - no_errors PAX7 5081 genome.wustl.edu 36 1 18833476 18833476 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 18833476 18833476 G C SNP PAX7 NM_002584 human genbank 54_36p 1 reviewed missense c.178 p.V60L 1 "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like" "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like,PatternScan_PAIRED_1,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors FAM5C 339479 genome.wustl.edu 36 1 188470230 188470230 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 188470230 188470230 C T SNP FAM5C NM_199051 human genbank 54_36p -1 provisional missense c.619 p.V207I 1 HMMSmart_SM00457 "HMMPfam_MACPF,HMMSmart_SM00457" - no_errors TAS1R2 80834 genome.wustl.edu 36 1 19039080 19039080 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19039080 19039080 C T SNP TAS1R2 NM_152232 human genbank 54_36p -1 validated missense c.2120 p.R707H 0 HMMPfam_7tm_3 "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822,HMMPfam_ANF_receptor,HMMPfam_NCD3G,superfamily_SSF57586,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3" - no_errors RGS18 64407 genome.wustl.edu 36 1 190395038 190395038 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 190395038 190395038 G A SNP RGS18 NM_130782 human genbank 54_36p 1 reviewed missense c.185 p.R62H 0 NULL "superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315" - no_errors RGS18 64407 genome.wustl.edu 36 1 190395051 190395051 + Silent SNP T T G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 190395051 190395051 T G SNP RGS18 NM_130782 human genbank 54_36p 1 reviewed silent c.198 p.S66 0.29 NULL "HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS" - no_errors RGS18 64407 genome.wustl.edu 36 1 190417080 190417080 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 190417080 190417080 G C SNP RGS18 NM_130782 human genbank 54_36p 1 reviewed missense c.319 p.E107Q 1 "HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS" "HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS" - no_errors RGS21 431704 genome.wustl.edu 36 1 190583138 190583138 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 190583138 190583138 C A SNP RGS21 NM_001039152 human genbank 54_36p 1 provisional missense c.84 p.N28K 0.96 "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" "superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors UBR4 23352 genome.wustl.edu 36 1 19314710 19314710 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 19314710 19314710 C A SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.10832 p.R3611L 1 superfamily_ARM repeat "superfamily_ARM repeat,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-UBR,HMMSmart_SM00396,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 genome.wustl.edu 36 1 19316463 19316463 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19316463 19316463 C T SNP UBR4 NM_020765 human genbank 54_36p -1 validated silent c.10662 p.T3554 0.97 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 genome.wustl.edu 36 1 19316494 19316494 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19316494 19316494 T A SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.10631 p.Y3544F 1 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 genome.wustl.edu 36 1 19352973 19352973 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19352973 19352973 T G SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.6506 p.E2169A 1 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors UBR4 23352 genome.wustl.edu 36 1 19366167 19366167 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19366167 19366167 G C SNP UBR4 NM_020765 human genbank 54_36p -1 validated missense c.4045 p.R1349G 1 superfamily_ARM repeat "HMMPfam_zf-UBR,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00396,superfamily_ARM repeat,PatternScan_ASP_GLU_RACEMASE_1" - no_errors KIAA0090 23065 genome.wustl.edu 36 1 19438993 19438993 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 19438993 19438993 G A SNP KIAA0090 NM_015047 human genbank 54_36p -1 predicted missense c.860 p.S287F 0.88 superfamily_Quinoprotein alcohol dehydrogenase-like "superfamily_Quinoprotein alcohol dehydrogenase-like,HMMPfam_DUF1620" - no_errors KCNT2 343450 genome.wustl.edu 36 1 194562493 194562493 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 194562493 194562493 G A SNP KCNT2 NM_198503 human genbank 54_36p -1 validated silent c.2253 p.P751 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_BK_channel_a" - no_errors KCNT2 343450 genome.wustl.edu 36 1 194634315 194634315 + Splice_Site SNP C C T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 194634315 194634315 C T SNP KCNT2 NM_198503 human genbank 54_36p -1 validated splice_site c.1294+1 e13+1 1 - - - no_errors KCNT2 343450 genome.wustl.edu 36 1 194665328 194665328 + Splice_Site SNP A A T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 194665328 194665328 A T SNP KCNT2 NM_198503 human genbank 54_36p -1 validated splice_site c.819+2 e9+2 1 - - - no_errors CFHR4 10877 genome.wustl.edu 36 1 195138355 195138355 + Silent SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 195138355 195138355 G A SNP CFHR4 NM_006684 human genbank 54_36p 1 validated silent c.243 p.T81 0 "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" - no_errors ASPM 259266 genome.wustl.edu 36 1 195337279 195337279 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 195337279 195337279 C T SNP ASPM NM_018136 human genbank 54_36p -1 validated silent c.7725 p.K2575 0 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ" - no_errors ASPM 259266 genome.wustl.edu 36 1 195338672 195338672 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 195338672 195338672 C T SNP ASPM NM_018136 human genbank 54_36p -1 validated missense c.6332 p.R2111K 0.47 "HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CRB1 23418 genome.wustl.edu 36 1 195564406 195564406 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 195564406 195564406 G C SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.302 p.G101A 0.85 "HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors CRB1 23418 genome.wustl.edu 36 1 195592610 195592610 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 195592610 195592610 G A SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.1015 p.D339N 0.96 "HMMSmart_SM00179,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors CRB1 23418 genome.wustl.edu 36 1 195657676 195657676 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 195657676 195657676 C T SNP CRB1 NM_201253 human genbank 54_36p 1 reviewed missense c.2095 p.H699Y 1 "HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2" ############################################################################################################################################################################################################################################################### - no_errors LHX9 56956 genome.wustl.edu 36 1 196153694 196153694 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 196153694 196153694 A G SNP LHX9 NM_020204 human genbank 54_36p 1 reviewed missense c.118 p.R40G 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors PTPRC 5788 genome.wustl.edu 36 1 196938184 196938184 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 196938184 196938184 C A SNP PTPRC NM_002838 human genbank 54_36p 1 reviewed missense c.479 p.P160Q 0 NULL "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors ENSG00000209589 0 genome.wustl.edu 36 1 19731278 19731278 + RNA SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 19731278 19731278 T A SNP ENSG00000209589 ENST00000386854 human ensembl 54_36p -1 novel rna NULL NULL 0 - - - pseudogene NR5A2 2494 genome.wustl.edu 36 1 198356604 198356604 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 198356604 198356604 A C SNP NR5A2 NM_205860 human genbank 54_36p 1 validated missense c.1276 p.N426H 1 "superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors NBL1 4681 genome.wustl.edu 36 1 19854446 19854446 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 19854446 19854446 C T SNP NBL1 NM_182744 human genbank 54_36p 1 reviewed silent c.318 p.T106 1 "HMMPfam_DAN,HMMSmart_CT" "HMMPfam_DAN,HMMSmart_CT" - no_errors KIF21B 23046 genome.wustl.edu 36 1 199225768 199225768 + Silent SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 199225768 199225768 G C SNP KIF21B NM_017596 human genbank 54_36p -1 provisional silent c.3057 p.S1019 0.43 "superfamily_WD40_like,superfamily_Prefoldin" "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40_like,superfamily_Prefoldin,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors CACNA1S 779 genome.wustl.edu 36 1 199327481 199327481 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 199327481 199327481 G A SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed silent c.604 p.L202 1 "superfamily_SSF81324,HMMPfam_Ion_trans" "superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors IPO9 55705 genome.wustl.edu 36 1 200087914 200087914 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 200087914 200087914 G A SNP IPO9 NM_018085 human genbank 54_36p 1 validated missense c.574 p.E192K 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_IBN_N" - no_errors LMOD1 25802 genome.wustl.edu 36 1 200135833 200135833 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 200135833 200135833 C T SNP LMOD1 ENST00000367288 human ensembl 54_36p -1 known missense c.931 p.E311K 1 HMMPfam_Tropomodulin "HMMPfam_Tropomodulin,superfamily_SSF52047,HMMPfam_WH2" - no_errors ARL8A 127829 genome.wustl.edu 36 1 200371488 200371488 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 200371488 200371488 T C SNP ARL8A NM_138795 human genbank 54_36p -1 validated silent c.342 p.L114 0.86 "HMMSmart_SM00177,HMMPfam_Arf,HMMSmart_SM00178,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" "HMMSmart_SM00177,HMMPfam_Arf,HMMSmart_SM00178,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175" - no_errors PPP1R12B 4660 genome.wustl.edu 36 1 200673582 200673582 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 200673582 200673582 G T SNP PPP1R12B NM_032105 human genbank 54_36p 1 reviewed missense c.1265 p.G422V 0.99 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors SYT2 127833 genome.wustl.edu 36 1 200835041 200835041 + Silent SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 200835041 200835041 G T SNP SYT2 NM_177402 human genbank 54_36p -1 validated silent c.981 p.T327 0.91 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors PPFIA4 8497 genome.wustl.edu 36 1 201281644 201281644 + Missense_Mutation SNP G C C novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 201281644 201281644 G C SNP PPFIA4 ENST00000367238 human ensembl 54_36p 1 known missense c.911 p.R304P 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors PPFIA4 8497 genome.wustl.edu 36 1 201299692 201299692 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 201299692 201299692 G A SNP PPFIA4 NM_015053 human genbank 54_36p 1 validated missense c.1470 p.M490I 1 "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1" "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors PPFIA4 8497 genome.wustl.edu 36 1 201304215 201304215 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 201304215 201304215 T A SNP PPFIA4 NM_015053 human genbank 54_36p 1 validated missense c.1642 p.W548R 1 "HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2" "HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2" - no_errors FMOD 2331 genome.wustl.edu 36 1 201583696 201583696 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 201583696 201583696 T C SNP FMOD NM_002023 human genbank 54_36p -1 reviewed missense c.326 p.Y109C 1 "superfamily_SSF52058,HMMSmart_LRRNT" "superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors ATP2B4 493 genome.wustl.edu 36 1 201939470 201939470 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 201939470 201939470 G C SNP ATP2B4 NM_001684 human genbank 54_36p 1 reviewed missense c.1005 p.E335D 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase" ############################################################################################################################################################################################################################################################### - no_errors ETNK2 55224 genome.wustl.edu 36 1 202382475 202382475 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 202382475 202382475 C T SNP ETNK2 NM_018208 human genbank 54_36p -1 reviewed missense c.559 p.A187T 1 "superfamily_Kinase_like,HMMPfam_Choline_kinase" "superfamily_Kinase_like,HMMPfam_Choline_kinase" - no_errors ETNK2 55224 genome.wustl.edu 36 1 202383259 202383259 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 202383259 202383259 G T SNP ETNK2 ENST00000367198 human ensembl 54_36p -1 known missense c.68 p.T23K 0 HMMPfam_Choline_kinase "HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like)" - no_start_codon PPP1R15B 84919 genome.wustl.edu 36 1 202646965 202646965 + Silent SNP C C A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 202646965 202646965 C A SNP PPP1R15B NM_032833 human genbank 54_36p -1 validated silent c.198 p.L66 0.75 HMMPfam_CReP_N "HMMPfam_CReP_N,HMMPfam_PP1c_bdg" - no_errors NFASC 23114 genome.wustl.edu 36 1 203236956 203236956 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 203236956 203236956 C T SNP NFASC ENST00000367172 human ensembl 54_36p 1 known missense c.3376 p.L1126F 0.51 "superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors NUAK2 81788 genome.wustl.edu 36 1 203539936 203539936 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 203539936 203539936 G A SNP NUAK2 NM_030952 human genbank 54_36p -1 provisional silent c.1152 p.A384 1 NULL "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors UBXN10 127733 genome.wustl.edu 36 1 20389680 20389680 + Silent SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 20389680 20389680 G A SNP UBXN10 NM_152376 human genbank 54_36p 1 provisional silent c.39 p.E13 0 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00166,HMMPfam_UBX" - no_errors SLC45A3 85414 genome.wustl.edu 36 1 203898616 203898616 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 203898616 203898616 G A SNP SLC45A3 NM_033102 human genbank 54_36p -1 validated missense c.926 p.P309L 1 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC45A3 85414 genome.wustl.edu 36 1 203898728 203898728 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 203898728 203898728 G C SNP SLC45A3 NM_033102 human genbank 54_36p -1 validated missense c.814 p.R272G 1 superfamily_MFS general substrate transporter "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors RAB7L1 8934 genome.wustl.edu 36 1 204007251 204007251 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204007251 204007251 G A SNP RAB7L1 NM_003929 human genbank 54_36p -1 validated missense c.350 p.P117L 0.88 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors AVPR1B 553 genome.wustl.edu 36 1 204391626 204391626 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204391626 204391626 C A SNP AVPR1B NM_000707 human genbank 54_36p 1 reviewed missense c.563 p.A188E 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors AVPR1B 553 genome.wustl.edu 36 1 204391958 204391958 + Frame_Shift_Del DEL A A - novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A - A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204391958 204391958 A - DEL AVPR1B NM_000707 human genbank 54_36p 1 reviewed frame_shift_del c.895 p.S299fs 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" "(deletion:cds_exon[204391064,204392003])" no_errors SRGAP2 23380 genome.wustl.edu 36 1 204633631 204633631 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204633631 204633631 A G SNP SRGAP2 ENST00000295713 human ensembl 54_36p 1 known missense c.551 p.H184R 1 NULL "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_start_codon SRGAP2 23380 genome.wustl.edu 36 1 204698858 204698858 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204698858 204698858 C A SNP SRGAP2 ENST00000367123 human ensembl 54_36p 1 known missense c.728 p.A243E 1 NULL "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_stop_codon IKBKE 9641 genome.wustl.edu 36 1 204719028 204719028 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204719028 204719028 C T SNP IKBKE NM_014002 human genbank 54_36p 1 validated missense c.1112 p.A371V 1 NULL "PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP" - no_errors IKBKE 9641 genome.wustl.edu 36 1 204719852 204719852 + Silent SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 204719852 204719852 C T SNP IKBKE NM_014002 human genbank 54_36p 1 validated silent c.1200 p.P400 1 NULL "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors FCAMR 83953 genome.wustl.edu 36 1 205207598 205207598 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 205207598 205207598 C G SNP FCAMR ENST00000400962 human ensembl 54_36p -1 known missense c.61 p.E21Q 0 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors C4BPB 725 genome.wustl.edu 36 1 205336565 205336565 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 205336565 205336565 G T SNP C4BPB NM_000716 human genbank 54_36p 1 reviewed missense c.485 p.S162I 0.06 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors CR1 1378 genome.wustl.edu 36 1 205807862 205807862 + Silent SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 205807862 205807862 C A SNP CR1 NM_000651 human genbank 54_36p 1 reviewed silent c.4023 p.P1341 0.05 "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" "superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032" - no_errors CR1 1378 genome.wustl.edu 36 1 205851743 205851743 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 205851743 205851743 A T SNP CR1 NM_000651 human genbank 54_36p 1 reviewed missense c.6394 p.S2132C 0 "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" "HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain" - no_errors CD34 947 genome.wustl.edu 36 1 206128671 206128671 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 206128671 206128671 C G SNP CD34 NM_001025109 human genbank 54_36p -1 validated missense c.951 p.W317C 1 HMMPfam_CD34_antigen HMMPfam_CD34_antigen - no_errors PLXNA2 5362 genome.wustl.edu 36 1 206457025 206457025 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 206457025 206457025 T A SNP PLXNA2 NM_025179 human genbank 54_36p -1 reviewed missense c.866 p.K289M 1 "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630" "superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP" - no_errors LAMB3 3914 genome.wustl.edu 36 1 207857413 207857413 + Nonsense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 207857413 207857413 C A SNP LAMB3 NM_000228 human genbank 54_36p -1 reviewed nonsense c.3193 p.E1065* 0 NULL "HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2" - no_errors TRAF3IP3 80342 genome.wustl.edu 36 1 208015458 208015458 + Splice_Site SNP G G T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208015458 208015458 G T SNP TRAF3IP3 NM_025228 human genbank 54_36p 1 provisional splice_site c.855+1 e8+1 1 - - - no_errors C1orf107 27042 genome.wustl.edu 36 1 208070891 208070893 + In_Frame_Del DEL GAG GAG - novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 GAG GAG GAG - GAG GAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208070891 208070893 GAG - DEL C1orf107 NM_014388 human genbank 54_36p 1 validated in_frame_del c.268_270 p.E93in_frame_del 0.861:0.831:0.735 NULL HMMPfam_DUF1253 "(deletion:cds_exon[208070771,208071011])" no_errors C1orf107 27042 genome.wustl.edu 36 1 208082350 208082351 + Missense_Mutation DNP GG GG CT novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 GG GG GG CT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208082350 208082351 GG CT DNP C1orf107 NM_014388 human genbank 54_36p 1 validated missense c.1603_1604 p.G535L 1.000:1.000 HMMPfam_DUF1253 HMMPfam_DUF1253 - no_errors KIF17 57576 genome.wustl.edu 36 1 20865316 20865316 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 20865316 20865316 G T SNP KIF17 NM_020816 human genbank 54_36p -1 validated missense c.2889 p.S963R 1 NULL "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors HHAT 55733 genome.wustl.edu 36 1 208658139 208658139 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 208658139 208658139 G A SNP HHAT NM_018194 human genbank 54_36p 1 validated missense c.703 p.D235N 0 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors HHAT 55733 genome.wustl.edu 36 1 208753155 208753155 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208753155 208753155 G A SNP HHAT NM_018194 human genbank 54_36p 1 validated missense c.1043 p.R348K 1 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors KIF17 57576 genome.wustl.edu 36 1 20889296 20889296 + Silent SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 20889296 20889296 C T SNP KIF17 NM_020816 human genbank 54_36p -1 validated silent c.1353 p.T451 0.94 NULL "HMMPfam_Kinesin,HMMSmart_KISc,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540" - no_errors KCNH1 3756 genome.wustl.edu 36 1 208923393 208923393 + Silent SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 208923393 208923393 G A SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed silent c.2823 p.N941 0.16 NULL "superfamily_PYP-like sensor domain (PAS domain),HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" - no_errors KCNH1 3756 genome.wustl.edu 36 1 208924017 208924017 + Silent SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 208924017 208924017 C T SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed silent c.2199 p.P733 0.67 NULL "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors KCNH1 3756 genome.wustl.edu 36 1 209044047 209044047 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 209044047 209044047 A G SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.1547 p.L516P 1 superfamily_cAMP-binding domain-like "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors KCNH1 3756 genome.wustl.edu 36 1 209258748 209258748 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 209258748 209258748 C A SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.1032 p.Q344H 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels" - no_errors RD3 343035 genome.wustl.edu 36 1 209721351 209721351 + Silent SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 209721351 209721351 G A SNP RD3 NM_183059 human genbank 54_36p -1 validated silent c.30 p.N10 0.98 NULL NULL - no_errors SLC30A1 7779 genome.wustl.edu 36 1 209815995 209815995 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 209815995 209815995 A C SNP SLC30A1 NM_021194 human genbank 54_36p -1 validated missense c.882 p.F294L 0.97 HMMPfam_Cation_efflux HMMPfam_Cation_efflux - no_errors CENPF 1063 genome.wustl.edu 36 1 212862097 212862097 + Silent SNP A A G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 212862097 212862097 A G SNP CENPF NM_016343 human genbank 54_36p 1 reviewed silent c.918 p.K306 1 NULL "HMMPfam_Cenp-F_N,superfamily_Spectrin repeat,HMMPfam_Cenp-F_leu_zip,superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F" - no_errors CENPF 1063 genome.wustl.edu 36 1 212882145 212882145 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 212882145 212882145 A G SNP CENPF NM_016343 human genbank 54_36p 1 reviewed missense c.3841 p.T1281A 0.01 NULL "superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F,HMMPfam_Cenp-F_N,HMMPfam_Cenp-F_leu_zip,superfamily_Spectrin repeat" - no_errors CENPF 1063 genome.wustl.edu 36 1 212882202 212882202 + Silent SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 212882202 212882202 C T SNP CENPF NM_016343 human genbank 54_36p 1 reviewed silent c.3898 p.L1300 0.01 NULL "superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F,HMMPfam_Cenp-F_N,HMMPfam_Cenp-F_leu_zip,superfamily_Spectrin repeat" - no_errors CENPF 1063 genome.wustl.edu 36 1 212887123 212887123 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 212887123 212887123 T G SNP CENPF NM_016343 human genbank 54_36p 1 reviewed missense c.7587 p.N2529K 0 NULL "superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F,HMMPfam_Cenp-F_N,HMMPfam_Cenp-F_leu_zip,superfamily_Spectrin repeat" - no_errors KCTD3 51133 genome.wustl.edu 36 1 213813754 213813754 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 213813754 213813754 T G SNP KCTD3 NM_016121 human genbank 54_36p 1 validated missense c.86 p.F29C 1 "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_WD40 repeat-like,HMMSmart_SM00320,PatternScan_WD_REPEATS_1" - no_errors ESRRG 2104 genome.wustl.edu 36 1 214917271 214917271 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 214917271 214917271 G A SNP ESRRG NM_001438 human genbank 54_36p -1 validated missense c.242 p.S81L 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors NBPF3 84224 genome.wustl.edu 36 1 21670841 21670841 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 21670841 21670841 C G SNP NBPF3 NM_032264 human genbank 54_36p 1 validated missense c.639 p.H213Q 0 NULL HMMPfam_DUF1220 - no_errors ALPL 249 genome.wustl.edu 36 1 21760242 21760242 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 21760242 21760242 G A SNP ALPL NM_000478 human genbank 54_36p 1 reviewed missense c.247 p.E83K 1 "superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc" "superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,PatternScan_ALKALINE_PHOSPHATASE" - no_errors ZC3H11B 643136 genome.wustl.edu 36 1 217850050 217850050 + RNA SNP C C A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 217850050 217850050 C A SNP ZC3H11B XR_041768 human genbank 54_36p -1 model rna NULL NULL 0.11 - - - pseudogene EPRS 2058 genome.wustl.edu 36 1 218228735 218228735 + Silent SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 218228735 218228735 T C SNP EPRS NM_004446 human genbank 54_36p -1 reviewed silent c.2595 p.K865 1 "superfamily_S15/NS1_bind,HMMPfam_WHEP-TRS" ############################################################################################################################################################################################################################################################### - no_errors IARS2 55699 genome.wustl.edu 36 1 218378008 218378008 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 218378008 218378008 G C SNP IARS2 NM_018060 human genbank 54_36p 1 validated missense c.2175 p.K725N 1 superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases ############################################################################################################################################################################################################################################################### - no_errors RAP1GAP 5909 genome.wustl.edu 36 1 21850624 21850624 + Silent SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 21850624 21850624 C T SNP RAP1GAP ENST00000374757 human ensembl 54_36p -1 known silent c.126 p.V42 0 NULL "HMMPfam_GoLoco,HMMSmart_GoLoco,superfamily_SSF111347" - no_errors USP48 84196 genome.wustl.edu 36 1 21894209 21894209 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 21894209 21894209 T A SNP USP48 NM_032236 human genbank 54_36p -1 reviewed missense c.2820 p.K940N 1 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Ubiquitin-like" - no_errors HSPG2 3339 genome.wustl.edu 36 1 22074827 22074827 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 22074827 22074827 G T SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.3184 p.Q1062K 0.99 "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00281,HMMPfam_Laminin_B" ############################################################################################################################################################################################################################################################### - no_errors HSPG2 3339 genome.wustl.edu 36 1 22078135 22078135 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 22078135 22078135 T C SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.2410 p.M804V 0.93 "HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors TLR5 7100 genome.wustl.edu 36 1 221352673 221352673 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 221352673 221352673 G T SNP TLR5 NM_003268 human genbank 54_36p -1 validated nonsense c.324 p.Y108* 0.01 "superfamily_SSF52058,HMMSmart_LRR_TYP" "superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR" - no_errors TP53BP2 7159 genome.wustl.edu 36 1 222046844 222046844 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 222046844 222046844 C G SNP TP53BP2 NM_001031685 human genbank 54_36p -1 reviewed missense c.2866 p.D956H 0.99 superfamily_ANK "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors WNT4 54361 genome.wustl.edu 36 1 22320651 22320651 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 22320651 22320651 G A SNP WNT4 NM_030761 human genbank 54_36p -1 reviewed missense c.319 p.R107W 1 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors WNT4 54361 genome.wustl.edu 36 1 22326371 22326371 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 22326371 22326371 G A SNP WNT4 ENST00000374655 human ensembl 54_36p -1 known silent c.504 p.T168 0 "HMMPfam_wnt,HMMSmart_SM00097" "HMMPfam_wnt,HMMSmart_SM00097" - no_errors ENAH 55740 genome.wustl.edu 36 1 223768935 223768935 + Silent SNP T T G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 223768935 223768935 T G SNP ENAH NM_001008493 human genbank 54_36p -1 validated silent c.1204 p.R402 0.99 NULL "HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like,HMMPfam_VASP_tetra" - no_errors TMEM63A 9725 genome.wustl.edu 36 1 224101408 224101408 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 224101408 224101408 G A SNP TMEM63A NM_014698 human genbank 54_36p -1 provisional nonsense c.2380 p.Q794* 0.02 NULL "superfamily_SSF54928,HMMPfam_DUF221" - no_errors ITPKB 3707 genome.wustl.edu 36 1 224896358 224896358 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 224896358 224896358 C T SNP ITPKB NM_002221 human genbank 54_36p -1 reviewed missense c.2338 p.A780T 1 "HMMPfam_IPK,superfamily_SAICAR synthase-like" "HMMPfam_IPK,superfamily_SAICAR synthase-like" - no_errors ITPKB 3707 genome.wustl.edu 36 1 224990219 224990219 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 224990219 224990219 G A SNP ITPKB NM_002221 human genbank 54_36p -1 reviewed missense c.1564 p.R522C 0 NULL "HMMPfam_IPK,superfamily_SAICAR synthase-like" - no_errors SNAP47 116841 genome.wustl.edu 36 1 226013795 226013795 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226013795 226013795 C G SNP SNAP47 NM_053052 human genbank 54_36p 1 validated nonsense c.1109 p.S370* 0.01 NULL NULL - no_errors WNT9A 7483 genome.wustl.edu 36 1 226178521 226178521 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 226178521 226178521 G A SNP WNT9A NM_003395 human genbank 54_36p -1 validated missense c.556 p.R186W 1 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors WNT3A 89780 genome.wustl.edu 36 1 226277096 226277096 + Silent SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226277096 226277096 C T SNP WNT3A NM_033131 human genbank 54_36p 1 reviewed silent c.177 p.Y59 1 "HMMPfam_wnt,HMMSmart_WNT1" "HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1" - no_errors OBSCN 84033 genome.wustl.edu 36 1 226499829 226499829 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226499829 226499829 C G SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed missense c.3574 p.Q1192E 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" ############################################################################################################################################################################################################################################################### - no_errors OBSCN 84033 genome.wustl.edu 36 1 226511219 226511219 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226511219 226511219 C G SNP OBSCN NM_001098623 human genbank 54_36p 1 reviewed missense c.4554 p.S1518R 0.92 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors TRIM17 51127 genome.wustl.edu 36 1 226662587 226662587 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 226662587 226662587 G T SNP TRIM17 NM_001024940 human genbank 54_36p -1 reviewed missense c.1372 p.L458M 0.97 "HMMPfam_SPRY,HMMSmart_SPRY" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors RAB4A 5867 genome.wustl.edu 36 1 227505312 227505312 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 227505312 227505312 G A SNP RAB4A NM_004578 human genbank 54_36p 1 provisional missense c.622 p.A208T 0.94 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00176" "HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors GALNT2 2590 genome.wustl.edu 36 1 228452888 228452888 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 228452888 228452888 A T SNP GALNT2 NM_004481 human genbank 54_36p 1 reviewed missense c.968 p.K323M 1 superfamily_Nucleotide-diphospho-sugar transferases "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin" - no_errors CAPN9 10753 genome.wustl.edu 36 1 228995244 228995244 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 228995244 228995244 A T SNP CAPN9 NM_006615 human genbank 54_36p 1 reviewed missense c.1817 p.D606V 1 "superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1" ############################################################################################################################################################################################################################################################### - no_errors TRIM67 440730 genome.wustl.edu 36 1 229409060 229409060 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 229409060 229409060 G A SNP TRIM67 NM_001004342 human genbank 54_36p 1 validated missense c.1720 p.G574S 1 "HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060" ############################################################################################################################################################################################################################################################### - no_errors TRIM67 440730 genome.wustl.edu 36 1 229411375 229411375 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 229411375 229411375 A G SNP TRIM67 NM_001004342 human genbank 54_36p 1 validated missense c.1879 p.N627D 1 superfamily_Concanavalin A-like lectins/glucanases ############################################################################################################################################################################################################################################################### - no_errors GNPAT 8443 genome.wustl.edu 36 1 229465158 229465159 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 CT CT CT - CT CT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 229465158 229465159 CT - DEL GNPAT NM_014236 human genbank 54_36p 1 reviewed frame_shift_del c.505_506 p.L169fs 1.000:1.000 "HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC" "HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC" "(deletion:cds_exon[229465092,229465221])" no_errors GNPAT 8443 genome.wustl.edu 36 1 229474686 229474686 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 229474686 229474686 G T SNP GNPAT NM_014236 human genbank 54_36p 1 reviewed missense c.1528 p.V510F 1 NULL "HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593" - no_errors EPHB2 2048 genome.wustl.edu 36 1 23064266 23064266 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23064266 23064266 C G SNP EPHB2 NM_004442 human genbank 54_36p 1 reviewed missense c.1277 p.S426C 1 NULL ############################################################################################################################################################################################################################################################### - no_errors KIAA1383 54627 genome.wustl.edu 36 1 231008926 231008926 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 231008926 231008926 C G SNP KIAA1383 NM_019090 human genbank 54_36p 1 validated missense c.1534 p.P512A 0.01 NULL NULL - no_errors EPHB2 2048 genome.wustl.edu 36 1 23112740 23112740 + Silent SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23112740 23112740 C A SNP EPHB2 ENST00000374630 human ensembl 54_36p 1 known silent c.2958 p.G986 0.66 NULL ############################################################################################################################################################################################################################################################### - no_errors C1orf57 84284 genome.wustl.edu 36 1 231180580 231180580 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 231180580 231180580 G A SNP C1orf57 NM_032324 human genbank 54_36p 1 predicted missense c.553 p.V185M 0.66 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DUF265" "HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DUF265" - no_errors LOC728973 728973 genome.wustl.edu 36 1 231491760 231491760 + RNA SNP G G T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 231491760 231491760 G T SNP LOC728973 XR_015809 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene KDM1A 23028 genome.wustl.edu 36 1 23229651 23229651 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23229651 23229651 C A SNP AOF2 NM_015013 human genbank 54_36p 1 reviewed missense c.454 p.P152T 1 NULL "HMMPfam_SWIRM,superfamily_FAD/NAD(P)-binding domain,HMMPfam_Amino_oxidase,superfamily_FAD-linked reductases C-terminal domain" - no_errors SLC35F3 148641 genome.wustl.edu 36 1 232433917 232433917 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 232433917 232433917 G A SNP SLC35F3 NM_173508 human genbank 54_36p 1 provisional missense c.415 p.V139M 0.96 NULL "superfamily_SSF103481,HMMPfam_DUF6" - no_errors TARBP1 6894 genome.wustl.edu 36 1 232620564 232620564 + Silent SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 232620564 232620564 A G SNP TARBP1 NM_005646 human genbank 54_36p -1 reviewed silent c.3594 p.A1198 1 superfamily_ARM-type_fold "superfamily_ARM-type_fold,superfamily_SSF75217,HMMPfam_SpoU_methylase" - no_errors RBM34 23029 genome.wustl.edu 36 1 233390906 233390906 + Silent SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 233390906 233390906 A G SNP RBM34 NM_015014 human genbank 54_36p -1 provisional silent c.138 p.G46 0 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ARID4B 51742 genome.wustl.edu 36 1 233411552 233411552 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 233411552 233411552 T C SNP ARID4B NM_016374 human genbank 54_36p -1 reviewed missense c.3305 p.N1102S 1 NULL "HMMSmart_SM00333,HMMPfam_RBB1NT,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors LYST 1130 genome.wustl.edu 36 1 233964493 233964493 + Silent SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 233964493 233964493 C T SNP LYST NM_000081 human genbank 54_36p -1 reviewed silent c.8448 p.L2816 0.05 NULL "PatternScan_COPPER_BLUE,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors LYST 1130 genome.wustl.edu 36 1 234032919 234032919 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 234032919 234032919 C A SNP LYST NM_000081 human genbank 54_36p -1 reviewed missense c.3624 p.Q1208H 1 NULL "HMMPfam_Beach,superfamily_BEACH domain,PatternScan_COPPER_BLUE,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_PH domain-like" - no_errors LYST 1130 genome.wustl.edu 36 1 234036550 234036550 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 234036550 234036550 G A SNP LYST NM_000081 human genbank 54_36p -1 reviewed missense c.2509 p.P837S 0.52 NULL "HMMPfam_Beach,superfamily_BEACH domain,PatternScan_COPPER_BLUE,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_PH domain-like" - no_errors LGALS8 3964 genome.wustl.edu 36 1 234767484 234767484 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 234767484 234767484 G A SNP LGALS8 NM_006499 human genbank 54_36p 1 reviewed missense c.110 p.G37E 1 "superfamily_ConA_like_lec_gl,HMMSmart_GLECT,HMMPfam_Gal-bind_lectin" "superfamily_ConA_like_lec_gl,HMMSmart_GLECT,HMMPfam_Gal-bind_lectin" - no_errors ACTN2 88 genome.wustl.edu 36 1 234972931 234972931 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 234972931 234972931 G T SNP ACTN2 NM_001103 human genbank 54_36p 1 reviewed missense c.1220 p.R407M 0.78 "superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150" ############################################################################################################################################################################################################################################################### - no_errors RYR2 6262 genome.wustl.edu 36 1 235722886 235722886 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235722886 235722886 G A SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.1837 p.V613I 0.98 HMMPfam_RYDR_ITPR "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors RYR2 6262 genome.wustl.edu 36 1 235844061 235844061 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235844061 235844061 C G SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.5010 p.H1670Q 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235844285 235844285 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235844285 235844285 A C SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.5234 p.K1745T 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235904746 235904746 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235904746 235904746 C G SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.8807 p.A2936G 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235930157 235930157 + Missense_Mutation SNP T A T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T A T T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 235930157 235930157 T A SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.9134 p.V3045E 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235930267 235930267 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235930267 235930267 C A SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.9244 p.H3082N 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 235947258 235947258 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 235947258 235947258 G C SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.10461 p.E3487D 0.99 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 236003483 236003483 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 236003483 236003483 A T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.11687 p.D3896V 1 HMMPfam_RIH_assoc "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 236031821 236031821 + Silent SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 236031821 236031821 A T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed silent c.14133 p.G4711 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors RYR2 6262 genome.wustl.edu 36 1 236060514 236060514 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 236060514 236060514 A T SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.14717 p.E4906V 1 NULL "HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand" - no_errors CHRM3 1131 genome.wustl.edu 36 1 238138533 238138533 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G C G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 238138533 238138533 G C SNP CHRM3 NM_000740 human genbank 54_36p 1 reviewed missense c.1159 p.D387H 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CHRM3 1131 genome.wustl.edu 36 1 238138701 238138701 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 238138701 238138701 G A SNP CHRM3 NM_000740 human genbank 54_36p 1 reviewed missense c.1327 p.V443I 0.02 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors MDS2 259283 genome.wustl.edu 36 1 23838327 23838327 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23838327 23838327 A G SNP MDS2 ENST00000374555 human ensembl 54_36p 1 known missense c.145 p.S49G 0 NULL NULL - no_errors MDS2 259283 genome.wustl.edu 36 1 23838757 23838757 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 23838757 23838757 C A SNP MDS2 ENST00000374555 human ensembl 54_36p 1 known missense c.147 p.S49R 0.03 NULL NULL - no_errors FMN2 56776 genome.wustl.edu 36 1 238437160 238437160 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 238437160 238437160 C A SNP FMN2 NM_020066 human genbank 54_36p 1 validated missense c.2854 p.Q952K 0.6 HMMSmart_SM00498 "PatternScan_LECTIN_LEGUME_BETA,HMMSmart_SM00498,HMMPfam_Drf_FH1,superfamily_Formin homology 2 domain (FH2 domain),HMMPfam_FH2" - no_errors RGS7 6000 genome.wustl.edu 36 1 239032743 239032743 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239032743 239032743 C T SNP RGS7 ENST00000407905 human ensembl 54_36p -1 known missense c.1361 p.G454D 0 superfamily_Regulat_G_prot_signal_superfam "superfamily_SSF46785,HMMSmart_DEP,HMMPfam_DEP,superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_stop_codon RGS7 6000 genome.wustl.edu 36 1 239099994 239099994 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239099994 239099994 A T SNP RGS7 NM_002924 human genbank 54_36p -1 validated missense c.434 p.L145H 1 NULL "superfamily_SSF46785,HMMSmart_DEP,HMMPfam_DEP,superfamily_G-protein_gamma-like,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS" - no_errors RGS7 6000 genome.wustl.edu 36 1 239328677 239328677 + Silent SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239328677 239328677 G A SNP RGS7 NM_002924 human genbank 54_36p -1 validated silent c.87 p.D29 1 superfamily_SSF46785 "HMMPfam_RGS,HMMSmart_RGS,HMMPfam_DEP,HMMSmart_DEP,HMMPfam_G-gamma,HMMSmart_GGL,superfamily_G-protein_gamma-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF46785" - no_errors FH 2271 genome.wustl.edu 36 1 239730425 239730425 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239730425 239730425 G C SNP FH NM_000143 human genbank 54_36p -1 reviewed missense c.1325 p.T442R 1 superfamily_L-aspartase-like "superfamily_L-aspartase-like,HMMPfam_Lyase_1,PatternScan_FUMARATE_LYASES,HMMPfam_FumaraseC_C" - no_errors KMO 8564 genome.wustl.edu 36 1 239798427 239798427 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 239798427 239798427 C A SNP KMO NM_003679 human genbank 54_36p 1 validated missense c.814 p.L272I 0.99 superfamily_FAD/NAD(P)-binding domain "superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO" - no_errors KMO 8564 genome.wustl.edu 36 1 239820012 239820012 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 239820012 239820012 T G SNP KMO NM_003679 human genbank 54_36p 1 validated missense c.1174 p.S392A 0.29 superfamily_FAD/NAD(P)-binding domain "HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain" - no_errors EXO1 9156 genome.wustl.edu 36 1 240083293 240083293 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 240083293 240083293 G A SNP EXO1 NM_006027 human genbank 54_36p 1 reviewed missense c.292 p.A98T 0.98 "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like" "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors MAP1LC3C 440738 genome.wustl.edu 36 1 240226291 240226291 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 240226291 240226291 C T SNP MAP1LC3C NM_001004343 human genbank 54_36p -1 validated missense c.241 p.A81T 0.1 "superfamily_SSF54236,HMMPfam_MAP1_LC3" "superfamily_SSF54236,HMMPfam_MAP1_LC3" - no_errors PLD5 200150 genome.wustl.edu 36 1 240343860 240343860 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 240343860 240343860 A C SNP PLD5 NM_152666 human genbank 54_36p -1 provisional missense c.749 p.I250S 1 "HMMPfam_PLD_envelope,superfamily_SSF56024" "superfamily_SSF56024,HMMPfam_PLDc,HMMSmart_PLDc,HMMPfam_PLD_envelope" - no_errors PLD5 200150 genome.wustl.edu 36 1 240354478 240354478 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 240354478 240354478 C A SNP PLD5 NM_152666 human genbank 54_36p -1 provisional missense c.572 p.W191L 1 HMMPfam_PLD_envelope "HMMPfam_PLDc,HMMSmart_PLDc,HMMPfam_PLD_envelope,superfamily_SSF56024" - no_errors LOC646330 646330 genome.wustl.edu 36 1 24100689 24100689 + RNA SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 24100689 24100689 G A SNP LOC646330 XR_017189 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene CEP170 9859 genome.wustl.edu 36 1 241402644 241402644 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 241402644 241402644 G A SNP CEP170 NM_014812 human genbank 54_36p -1 reviewed missense c.1694 p.T565I 1 NULL "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA" - no_errors ADSS 159 genome.wustl.edu 36 1 242645991 242645991 + Silent SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 242645991 242645991 G C SNP ADSS NM_001126 human genbank 54_36p -1 reviewed silent c.1083 p.T361 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Adenylsucc_synt,HMMSmart_SM00788" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,PatternScan_ADENYLOSUCCIN_SYN_1,PatternScan_ADENYLOSUCCIN_SYN_2" - no_errors ADSS 159 genome.wustl.edu 36 1 242653964 242653964 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 242653964 242653964 G T SNP ADSS NM_001126 human genbank 54_36p -1 reviewed silent c.495 p.G165 0.85 "HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,PatternScan_ADENYLOSUCCIN_SYN_2,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,PatternScan_ADENYLOSUCCIN_SYN_2,PatternScan_ADENYLOSUCCIN_SYN_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF26B 55083 genome.wustl.edu 36 1 243770770 243770770 + Silent SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 243770770 243770770 C T SNP KIF26B NM_018012 human genbank 54_36p 1 provisional silent c.1245 p.L415 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin" - no_errors KIF26B 55083 genome.wustl.edu 36 1 243770848 243770848 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 243770848 243770848 G C SNP KIF26B NM_018012 human genbank 54_36p 1 provisional missense c.1323 p.K441N 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF26B 55083 genome.wustl.edu 36 1 243876204 243876207 + Splice_Site DEL AAGT AAGT - novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 AAGT AAGT AAGT - AAGT AAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 243876204 243876207 AAGT - DEL KIF26B NM_018012 human genbank 54_36p 1 provisional splice_site_del c.2257_2258 p.K753fs 1.000:1.000 "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" "(deletion:cds_exon[243876046,243876205], intron[243876206,243914157])" no_errors KIF26B 55083 genome.wustl.edu 36 1 243928855 243928855 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 243928855 243928855 G A SNP KIF26B NM_018012 human genbank 54_36p 1 provisional missense c.6071 p.R2024H 1 NULL "HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TFB2M 64216 genome.wustl.edu 36 1 244770987 244770987 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 244770987 244770987 C G SNP TFB2M NM_022366 human genbank 54_36p -1 validated missense c.1160 p.W387S 0.31 NULL "PatternScan_RRNA_A_DIMETH,superfamily_SSF53335,HMMPfam_RrnaAD" - no_errors AHCTF1 25909 genome.wustl.edu 36 1 245080990 245080990 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245080990 245080990 A T SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.4941 p.S1647R 0.86 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors AHCTF1 25909 genome.wustl.edu 36 1 245087640 245087640 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245087640 245087640 A T SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.4232 p.L1411H 0.08 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors AHCTF1 25909 genome.wustl.edu 36 1 245137665 245137665 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245137665 245137665 C G SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.575 p.G192A 1 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook" - no_errors ZNF496 84838 genome.wustl.edu 36 1 245531178 245531178 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245531178 245531178 C G SNP ZNF496 NM_032752 human genbank 54_36p -1 provisional missense c.1030 p.E344Q 0 NULL "HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors NLRP3 114548 genome.wustl.edu 36 1 245648896 245648896 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245648896 245648896 C G SNP NLRP3 NM_001079821 human genbank 54_36p 1 reviewed missense c.177 p.I59M 0.93 "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN" "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMSmart_LRR_RI,HMMPfam_LRR_1" - no_errors NLRP3 114548 genome.wustl.edu 36 1 245654347 245654347 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245654347 245654347 C G SNP NLRP3 NM_001079821 human genbank 54_36p 1 reviewed missense c.979 p.R327G 0.09 HMMPfam_NACHT "HMMPfam_LRR_1,HMMSmart_LRR_RI,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52047" - no_errors NLRP3 114548 genome.wustl.edu 36 1 245666066 245666066 + Splice_Site SNP G G C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245666066 245666066 G C SNP NLRP3 NM_001079821 human genbank 54_36p 1 reviewed splice_site c.2669+1 e6+1 1 - - - no_errors NLRP3 114548 genome.wustl.edu 36 1 245673982 245673982 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245673982 245673982 C G SNP NLRP3 NM_001079821 human genbank 54_36p 1 reviewed missense c.2755 p.L919V 0.33 "HMMPfam_LRR_1,superfamily_SSF52047" "HMMPfam_LRR_1,HMMSmart_LRR_RI,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52047" - no_errors OR2W5 441932 genome.wustl.edu 36 1 245721382 245721382 + Silent SNP C C A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245721382 245721382 C A SNP OR2W5 NM_001004698 human genbank 54_36p 1 provisional silent c.330 p.T110 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR2C3 81472 genome.wustl.edu 36 1 245761802 245761802 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245761802 245761802 A C SNP OR2C3 NM_198074 human genbank 54_36p -1 validated missense c.632 p.L211R 0.12 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR14K1 343170 genome.wustl.edu 36 1 245968742 245968742 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 245968742 245968742 A T SNP OR14K1 ENST00000283225 human ensembl 54_36p 1 known missense c.203 p.D68V 0.08 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2L8 391190 genome.wustl.edu 36 1 246179561 246179561 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246179561 246179561 G C SNP OR2L8 NM_001001963 human genbank 54_36p 1 provisional missense c.779 p.R260P 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2AK2 391191 genome.wustl.edu 36 1 246195322 246195322 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246195322 246195322 T A SNP OR2AK2 NM_001004491 human genbank 54_36p 1 provisional missense c.66 p.S22R 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2L1P 26247 genome.wustl.edu 36 1 246220752 246220752 + RNA SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246220752 246220752 C T SNP OR2L1P NR_002145 human genbank 54_36p 1 provisional rna NULL NULL 0.02 - - - pseudogene OR2T33 391195 genome.wustl.edu 36 1 246502789 246502789 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246502789 246502789 G T SNP OR2T33 NM_001004695 human genbank 54_36p -1 provisional missense c.951 p.H317Q 0 NULL "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T6 254879 genome.wustl.edu 36 1 246617696 246617696 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246617696 246617696 T C SNP OR2T6 NM_001005471 human genbank 54_36p 1 provisional missense c.164 p.L55P 0.99 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2G6 391211 genome.wustl.edu 36 1 246752148 246752148 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246752148 246752148 C T SNP OR2G6 NM_001013355 human genbank 54_36p 1 validated missense c.578 p.T193I 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T34 127068 genome.wustl.edu 36 1 246804504 246804504 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 246804504 246804504 G T SNP OR2T34 NM_001001821 human genbank 54_36p -1 provisional missense c.178 p.L60I 0.96 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR2T35 403244 genome.wustl.edu 36 1 246868520 246868520 + Silent SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 246868520 246868520 G A SNP OR2T35 NM_001001827 human genbank 54_36p -1 provisional silent c.663 p.I221 0.42 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PGBD2 267002 genome.wustl.edu 36 1 247178593 247178593 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 247178593 247178593 G C SNP PGBD2 NM_170725 human genbank 54_36p 1 validated missense c.1187 p.G396A 1 NULL NULL - no_errors SRRM1 10250 genome.wustl.edu 36 1 24850623 24850623 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 24850623 24850623 A G SNP SRRM1 NM_005839 human genbank 54_36p 1 validated missense c.658 p.T220A 0.82 NULL "superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI" - no_errors LDLRAP1 26119 genome.wustl.edu 36 1 25753004 25753004 + Silent SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 25753004 25753004 G T SNP LDLRAP1 NM_015627 human genbank 54_36p 1 reviewed silent c.93 p.L31 1 superfamily_SSF50729 "superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID" - no_errors SEPN1 57190 genome.wustl.edu 36 1 26007750 26007750 + Silent SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 26007750 26007750 T A SNP SEPN1 ENST00000354177 human ensembl 54_36p 1 known silent c.528 p.L176 0.69 NULL NULL - no_errors ZNF683 257101 genome.wustl.edu 36 1 26566839 26566839 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 26566839 26566839 C G SNP ZNF683 NM_173574 human genbank 54_36p -1 validated missense c.151 p.D51H 0.01 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ARID1A 8289 genome.wustl.edu 36 1 26960004 26960004 + Nonsense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 26960004 26960004 C G SNP ARID1A NM_006015 human genbank 54_36p 1 reviewed nonsense c.1991 p.S664* 1 NULL "superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors ARID1A 8289 genome.wustl.edu 36 1 26974783 26974783 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 26974783 26974783 C T SNP ARID1A NM_006015 human genbank 54_36p 1 reviewed nonsense c.5122 p.Q1708* 1 NULL "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like" - no_errors PIGV 55650 genome.wustl.edu 36 1 26993844 26993844 + Silent SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 26993844 26993844 G T SNP PIGV NM_017837 human genbank 54_36p 1 validated silent c.732 p.S244 0 HMMPfam_Mannosyl_trans2 HMMPfam_Mannosyl_trans2 - no_errors C1orf172 126695 genome.wustl.edu 36 1 27150987 27150987 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 27150987 27150987 T C SNP C1orf172 NM_152365 human genbank 54_36p -1 predicted missense c.472 p.S158G 1 NULL NULL - no_errors SLC9A1 6548 genome.wustl.edu 36 1 27300285 27300285 + Silent SNP G A A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 27300285 27300285 G A SNP SLC9A1 NM_003047 human genbank 54_36p -1 validated silent c.2106 p.G702 1 NULL HMMPfam_Na_H_Exchanger - no_errors WDTC1 23038 genome.wustl.edu 36 1 27505417 27505417 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 27505417 27505417 G A SNP WDTC1 NM_015023 human genbank 54_36p 1 validated missense c.1987 p.D663N 1 NULL "HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,superfamily_TPR-like,HMMSmart_SM00028" - no_errors SYTL1 84958 genome.wustl.edu 36 1 27549949 27549949 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 27549949 27549949 C A SNP SYTL1 NM_032872 human genbank 54_36p 1 provisional missense c.1047 p.N349K 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "PatternScan_ATPASE_ALPHA_BETA,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors RPA2 6118 genome.wustl.edu 36 1 28113723 28113723 + Splice_Site SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 28113723 28113723 A C SNP RPA2 ENST00000373909 human ensembl 54_36p -1 known splice_site c.34+2 e1+2 0 - - - no_errors EYA3 2140 genome.wustl.edu 36 1 28234668 28234668 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 28234668 28234668 G T SNP EYA3 NM_001990 human genbank 54_36p -1 reviewed missense c.335 p.T112N 1 NULL HMMPfam_Hydrolase - no_errors SESN2 83667 genome.wustl.edu 36 1 28474027 28474027 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 28474027 28474027 C T SNP SESN2 NM_031459 human genbank 54_36p 1 reviewed silent c.1125 p.Y375 1 HMMPfam_PA26 "HMMPfam_PA26,superfamily_SSF69118" - no_errors YTHDF2 51441 genome.wustl.edu 36 1 28942432 28942432 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 28942432 28942432 C T SNP YTHDF2 NM_016258 human genbank 54_36p 1 validated missense c.1063 p.R355W 1 NULL HMMPfam_YTH - no_errors OPRD1 4985 genome.wustl.edu 36 1 29058393 29058393 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 29058393 29058393 C A SNP OPRD1 NM_000911 human genbank 54_36p 1 validated missense c.568 p.R190S 0.5 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors MECR 51102 genome.wustl.edu 36 1 29395312 29395312 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 29395312 29395312 G A SNP MECR ENST00000373792 human ensembl 54_36p -1 known missense c.757 p.R253C 0.42 NULL "HMMPfam_ADH_N,superfamily_GroES-like" - no_errors MECR 51102 genome.wustl.edu 36 1 29401139 29401139 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 29401139 29401139 T A SNP MECR NM_016011 human genbank 54_36p -1 validated missense c.659 p.D220V 0.97 "HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains" "superfamily_GroES-like,HMMPfam_ADH_zinc_N,HMMPfam_ADH_N,superfamily_NAD(P)-binding Rossmann-fold domains" - no_errors SDC3 9672 genome.wustl.edu 36 1 31122403 31122403 + Silent SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31122403 31122403 C T SNP SDC3 NM_014654 human genbank 54_36p -1 validated silent c.453 p.E151 0.99 HMMPfam_Syndecan "HMMPfam_Syndecan,HMMSmart_SM00294,PatternScan_SYNDECAN" - no_errors PUM1 9698 genome.wustl.edu 36 1 31211533 31211533 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31211533 31211533 T C SNP PUM1 NM_001020658 human genbank 54_36p -1 reviewed missense c.1969 p.S657G 1 NULL "superfamily_ARM repeat,HMMPfam_PUF,HMMSmart_SM00025" - no_errors HCRTR1 3061 genome.wustl.edu 36 1 31857836 31857836 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31857836 31857836 G T SNP HCRTR1 NM_001525 human genbank 54_36p 1 reviewed missense c.316 p.V106L 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors COL16A1 1307 genome.wustl.edu 36 1 31919092 31919092 + Splice_Site SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31919092 31919092 C T SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed splice_site c.2610+1 e38+1 1 - - - no_errors COL16A1 1307 genome.wustl.edu 36 1 31924299 31924299 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31924299 31924299 C T SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed missense c.1864 p.A622T 0.59 HMMPfam_Collagen "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen" - no_errors COL16A1 1307 genome.wustl.edu 36 1 31936097 31936097 + Silent SNP G G C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31936097 31936097 G C SNP COL16A1 NM_001856 human genbank 54_36p -1 reviewed silent c.654 p.V218 0.13 "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases" "HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases" - no_errors BAI2 576 genome.wustl.edu 36 1 31994579 31994579 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 31994579 31994579 G T SNP BAI2 NM_001703 human genbank 54_36p -1 reviewed missense c.446 p.T149N 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2" - no_errors SPOCD1 90853 genome.wustl.edu 36 1 32029433 32029433 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32029433 32029433 C T SNP SPOCD1 ENST00000294514 human ensembl 54_36p -1 known missense c.863 p.R288K 0.86 HMMPfam_SPOC "HMMSmart_SM00510,HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_SPOC" - no_start_codon SPOCD1 90853 genome.wustl.edu 36 1 32036456 32036456 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32036456 32036456 A C SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.2084 p.M695R 1 "HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510" "HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_SPOC,HMMSmart_SM00510" - no_errors SPOCD1 90853 genome.wustl.edu 36 1 32038045 32038045 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32038045 32038045 G C SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.1735 p.P579A 0 NULL "HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_SPOC,HMMSmart_SM00510" - no_errors SPOCD1 90853 genome.wustl.edu 36 1 32053079 32053079 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32053079 32053079 G T SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.443 p.A148D 0 NULL "HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_SPOC,HMMSmart_SM00510" - no_errors TXLNA 200081 genome.wustl.edu 36 1 32433268 32433268 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32433268 32433268 G T SNP TXLNA NM_175852 human genbank 54_36p 1 validated missense c.1526 p.G509V 0.14 NULL HMMPfam_Taxilin - no_errors IQCC 55721 genome.wustl.edu 36 1 32444411 32444411 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32444411 32444411 C G SNP IQCC NM_018134 human genbank 54_36p 1 provisional missense c.112 p.R38G 0.74 NULL HMMPfam_IQ - no_errors MARCKSL1 65108 genome.wustl.edu 36 1 32572997 32572997 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32572997 32572997 G A SNP MARCKSL1 NM_023009 human genbank 54_36p -1 validated nonsense c.376 p.Q126* 1 NULL "HMMPfam_MARCKS,PatternScan_MARCKS_1,PatternScan_MARCKS_2" - no_errors RBBP4 5928 genome.wustl.edu 36 1 32895695 32895695 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 32895695 32895695 C A SNP RBBP4 NM_005610 human genbank 54_36p 1 reviewed missense c.245 p.A82D 1 NULL "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors FNDC5 252995 genome.wustl.edu 36 1 33106019 33106019 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33106019 33106019 T A SNP FNDC5 NM_153756 human genbank 54_36p -1 provisional missense c.196 p.M66L 1 NULL "superfamily_FN_III-like,HMMPfam_fn3" - no_errors AK2 204 genome.wustl.edu 36 1 33251378 33251378 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33251378 33251378 C G SNP AK2 NM_001625 human genbank 54_36p -1 reviewed missense c.711 p.M237I 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE,superfamily_Microbial and mitochondrial ADK insert zinc finger domain,HMMPfam_ADK_lid" - no_errors ADC 113451 genome.wustl.edu 36 1 33332896 33332896 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33332896 33332896 G C SNP ADC NM_052998 human genbank 54_36p 1 validated missense c.748 p.E250Q 1 "HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,superfamily_Alanine racemase C-terminal domain-like" "HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,PatternScan_ODR_DC_2_1,PatternScan_ODR_DC_2_2,superfamily_Alanine racemase C-terminal domain-like,HMMPfam_Orn_DAP_Arg_deC" - no_errors ZSCAN20 7579 genome.wustl.edu 36 1 33717802 33717802 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33717802 33717802 C A SNP ZSCAN20 NM_145238 human genbank 54_36p 1 validated missense c.326 p.T109N 0.99 "HMMPfam_SCAN,HMMSmart_SM00431" "HMMPfam_SCAN,HMMSmart_SM00431,HMMSmart_SM00717,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ZSCAN20 7579 genome.wustl.edu 36 1 33731718 33731718 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33731718 33731718 A G SNP ZSCAN20 NM_145238 human genbank 54_36p 1 validated missense c.1789 p.T597A 0 NULL "HMMSmart_SM00717,HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ARHGEF16 27237 genome.wustl.edu 36 1 3379574 3379574 + Silent SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 3379574 3379574 G A SNP ARHGEF16 NM_014448 human genbank 54_36p 1 reviewed silent c.231 p.E77 0.94 "HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_RhoGEF" "HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_1" - no_errors CSMD2 114784 genome.wustl.edu 36 1 33805984 33805984 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 33805984 33805984 C T SNP CSMD2 ENST00000373381 human ensembl 54_36p -1 known missense c.8176 p.D2726N 0 NULL "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC" - no_errors GJB5 2709 genome.wustl.edu 36 1 34996257 34996257 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 34996257 34996257 G A SNP GJB5 NM_005268 human genbank 54_36p 1 provisional missense c.739 p.D247N 0.86 NULL "HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2" - no_errors GJB4 127534 genome.wustl.edu 36 1 35000167 35000167 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 35000167 35000167 G T SNP GJB4 NM_153212 human genbank 54_36p 1 validated missense c.725 p.G242V 0 NULL "HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2" - no_errors DLGAP3 58512 genome.wustl.edu 36 1 35105308 35105308 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 35105308 35105308 G C SNP DLGAP3 NM_001080418 human genbank 54_36p -1 provisional missense c.2649 p.I883M 0.99 HMMPfam_GKAP HMMPfam_GKAP - no_errors ZMYM6 9204 genome.wustl.edu 36 1 35226961 35226961 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 35226961 35226961 A C SNP ZMYM6 NM_007167 human genbank 54_36p -1 validated missense c.2309 p.I770S 1 NULL "HMMPfam_zf-FCS,HMMSmart_SM00746" - no_errors ZMYM6 9204 genome.wustl.edu 36 1 35247025 35247025 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 35247025 35247025 T C SNP ZMYM6 NM_007167 human genbank 54_36p -1 validated missense c.1580 p.N527S 0.99 "HMMPfam_zf-FCS,HMMSmart_SM00746" "HMMPfam_zf-FCS,HMMSmart_SM00746" - no_errors SFPQ 6421 genome.wustl.edu 36 1 35427386 35427394 + In_Frame_Del DEL GATTTGCCT GATTTGCCT - novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 GATTTGCCT GATTTGCCT GATTTGCCT - GATTTGCCT GATTTGCCT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 35427386 35427394 GATTTGCCT - DEL SFPQ NM_005066 human genbank 54_36p -1 validated in_frame_del c.1600_1592 p.QAN531in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_NOPS" "(deletion:cds_exon[35427374,35427570])" no_errors CLSPN 63967 genome.wustl.edu 36 1 35998743 35998743 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 35998743 35998743 G C SNP CLSPN NM_022111 human genbank 54_36p -1 reviewed missense c.1366 p.L456V 0.16 NULL NULL - no_errors EIF2C1 26523 genome.wustl.edu 36 1 36140456 36140456 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 36140456 36140456 G T SNP EIF2C1 NM_012199 human genbank 54_36p 1 reviewed missense c.1328 p.G443V 1 NULL "superfamily_PAZ domain,HMMPfam_DUF1785,HMMPfam_PAZ,superfamily_Ribonuclease H-like,HMMPfam_Piwi" - no_errors TP73 7161 genome.wustl.edu 36 1 3614185 3614185 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 3614185 3614185 G T SNP TP73 NM_005427 human genbank 54_36p 1 reviewed missense c.399 p.Q133H 1 "HMMPfam_P53,superfamily_p53-like transcription factors" "HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain" - no_errors THRAP3 9967 genome.wustl.edu 36 1 36527461 36527461 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 36527461 36527461 T G SNP THRAP3 NM_005119 human genbank 54_36p 1 validated missense c.1254 p.F418L 1 NULL NULL - no_errors THRAP3 9967 genome.wustl.edu 36 1 36534860 36534860 + Silent SNP T T A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 36534860 36534860 T A SNP THRAP3 NM_005119 human genbank 54_36p 1 validated silent c.2205 p.G735 0.98 NULL NULL - no_errors OSCP1 127700 genome.wustl.edu 36 1 36656411 36656411 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 36656411 36656411 G C SNP C1orf102 NM_145047 human genbank 54_36p -1 validated missense c.1086 p.I362M 1 NULL HMMPfam_Oscp1 - no_errors DFFB 1677 genome.wustl.edu 36 1 3772119 3772119 + Silent SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 3772119 3772119 T C SNP DFFB ENST00000378212 human ensembl 54_36p 1 known silent c.294 p.P98 0 NULL "superfamily_SSF54277,HMMPfam_CIDE-N" - no_errors DNALI1 7802 genome.wustl.edu 36 1 37799838 37799838 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 37799838 37799838 A G SNP DNALI1 NM_003462 human genbank 54_36p 1 reviewed missense c.557 p.Y186C 1 HMMPfam_Ax_dynein_light HMMPfam_Ax_dynein_light - no_errors MTF1 4520 genome.wustl.edu 36 1 38076900 38076900 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 38076900 38076900 C T SNP MTF1 NM_005955 human genbank 54_36p -1 reviewed missense c.763 p.G255R 1 superfamily_C2H2 and C2HC zinc fingers "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MACF1 23499 genome.wustl.edu 36 1 39677659 39677659 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 39677659 39677659 C G SNP MACF1 NM_033044 human genbank 54_36p 1 reviewed missense c.13676 p.A4559G 1 "superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC" "superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2" - no_errors BMP8B 656 genome.wustl.edu 36 1 40002958 40002958 + Silent SNP T T C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 40002958 40002958 T C SNP BMP8B NM_001720 human genbank 54_36p -1 reviewed silent c.792 p.A264 0.98 NULL "HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1" - no_errors CAP1 10487 genome.wustl.edu 36 1 40302763 40302763 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 40302763 40302763 A G SNP CAP1 NM_001105530 human genbank 54_36p 1 reviewed missense c.469 p.M157V 1 "HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP" "HMMPfam_CAP_N,PatternScan_CAP_1,superfamily_N-terminal domain of adenylylcyclase associated protein CAP,HMMPfam_CAP_C,superfamily_C-terminal domain of adenylylcyclase associated protein,HMMSmart_SM00673,PatternScan_CAP_2" - no_errors HIVEP3 59269 genome.wustl.edu 36 1 41820483 41820483 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 41820483 41820483 A G SNP HIVEP3 NM_024503 human genbank 54_36p -1 validated missense c.2573 p.I858T 1 NULL "PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors YBX1 4904 genome.wustl.edu 36 1 42934991 42934991 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 42934991 42934991 C G SNP YBX1 NM_004559 human genbank 54_36p 1 validated missense c.446 p.P149R 1 NULL "superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357,PatternScan_COLD_SHOCK" - no_errors YBX1 4904 genome.wustl.edu 36 1 42935444 42935444 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 42935444 42935444 G C SNP YBX1 NM_004559 human genbank 54_36p 1 validated missense c.664 p.D222H 1 NULL "HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK" - no_errors YBX1 4904 genome.wustl.edu 36 1 42939246 42939246 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 42939246 42939246 C T SNP YBX1 NM_004559 human genbank 54_36p 1 validated silent c.948 p.P316 1 NULL "HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK" - no_errors LEPRE1 64175 genome.wustl.edu 36 1 42996119 42996119 + Silent SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 42996119 42996119 G A SNP LEPRE1 NM_022356 human genbank 54_36p -1 reviewed silent c.1002 p.D334 0.99 superfamily_SSF48452 "superfamily_SSF48452,HMMSmart_P4Hc,HMMPfam_2OG-FeII_Oxy" - no_errors ZNF691 51058 genome.wustl.edu 36 1 43089259 43089259 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43089259 43089259 G A SNP ZNF691 NM_015911 human genbank 54_36p 1 provisional missense c.43 p.E15K 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors FAM183A 440585 genome.wustl.edu 36 1 43389041 43389041 + Silent SNP C C G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43389041 43389041 C G SNP FAM183A NM_001101376 human genbank 54_36p 1 validated silent c.156 p.P52 1 NULL NULL - no_errors KIAA0467 23334 genome.wustl.edu 36 1 43664194 43664194 + Silent SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43664194 43664194 G A SNP KIAA0467 NM_015284 human genbank 54_36p 1 predicted silent c.390 p.P130 0 NULL NULL - no_errors KIAA0467 23334 genome.wustl.edu 36 1 43669239 43669239 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43669239 43669239 G A SNP KIAA0467 NM_015284 human genbank 54_36p 1 predicted missense c.2110 p.V704I 0 NULL NULL - no_errors HYI 81888 genome.wustl.edu 36 1 43690208 43690208 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43690208 43690208 C T SNP HYI NM_031207 human genbank 54_36p -1 provisional missense c.271 p.D91N 1 "superfamily_Xyl_isomerase-like_TIM-brl,HMMPfam_AP_endonuc_2" "superfamily_Xyl_isomerase-like_TIM-brl,HMMPfam_AP_endonuc_2" - no_errors PTPRF 5792 genome.wustl.edu 36 1 43842098 43842098 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 43842098 43842098 C G SNP PTPRF NM_002840 human genbank 54_36p 1 reviewed missense c.2688 p.N896K 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" ############################################################################################################################################################################################################################################################### - no_errors ST3GAL3 6487 genome.wustl.edu 36 1 44063084 44063084 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 44063084 44063084 C G SNP ST3GAL3 NM_174963 human genbank 54_36p 1 reviewed missense c.349 p.P117A 0 NULL HMMPfam_Glyco_transf_29 - no_errors B4GALT2 8704 genome.wustl.edu 36 1 44223557 44223557 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 44223557 44223557 T G SNP B4GALT2 NM_001005417 human genbank 54_36p 1 reviewed missense c.761 p.F254C 1 "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Galactosyl_T_2" "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Galactosyl_T_2" - no_errors LOC644743 644743 genome.wustl.edu 36 1 44342745 44342745 + RNA SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 44342745 44342745 C T SNP LOC644743 XR_016703 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC644743 644743 genome.wustl.edu 36 1 44342810 44342810 + RNA SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 44342810 44342810 C T SNP LOC644743 XR_016703 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RNF220 55182 genome.wustl.edu 36 1 44650891 44650891 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 44650891 44650891 G A SNP RNF220 NM_018150 human genbank 54_36p 1 validated missense c.535 p.V179I 1 NULL superfamily_RING/U-box - no_errors PTCH2 8643 genome.wustl.edu 36 1 45070287 45070287 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 45070287 45070287 T A SNP PTCH2 NM_003738 human genbank 54_36p -1 validated nonsense c.472 p.K158* 1 HMMPfam_Patched "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors LOC128192 128192 genome.wustl.edu 36 1 45226714 45226714 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 45226714 45226714 G A SNP LOC128192 XM_060887 human genbank 54_36p -1 model missense c.271 p.H91Y 1 "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase" "superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1" - no_errors TESK2 10420 genome.wustl.edu 36 1 45583360 45583360 + Silent SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 45583360 45583360 G C SNP TESK2 NM_007170 human genbank 54_36p -1 reviewed silent c.1455 p.R485 0.98 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors TESK2 10420 genome.wustl.edu 36 1 45660000 45660000 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 45660000 45660000 G A SNP TESK2 NM_007170 human genbank 54_36p -1 reviewed missense c.328 p.H110Y 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors MAST2 23139 genome.wustl.edu 36 1 46264028 46264028 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 46264028 46264028 T A SNP MAST2 NM_015112 human genbank 54_36p 1 validated missense c.1873 p.Y625N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "HMMPfam_DUF1908,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" - no_errors MAST2 23139 genome.wustl.edu 36 1 46267163 46267163 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46267163 46267163 C T SNP MAST2 NM_015112 human genbank 54_36p 1 validated missense c.2189 p.P730L 1 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_DUF1908,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors MAST2 23139 genome.wustl.edu 36 1 46274325 46274325 + Nonstop_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46274325 46274325 G C SNP MAST2 NM_015112 human genbank 54_36p 1 validated nonstop c.5397 p.*1799Y 0.78 NULL "HMMSmart_SM00219,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_DUF1908,HMMPfam_Pkinase,HMMPfam_Pkinase_C" - no_errors TSPAN1 10103 genome.wustl.edu 36 1 46423344 46423344 + Silent SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46423344 46423344 C T SNP TSPAN1 NM_005727 human genbank 54_36p 1 reviewed silent c.564 p.T188 0 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors C1orf190 541468 genome.wustl.edu 36 1 46441791 46441791 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46441791 46441791 G C SNP C1orf190 NM_001013615 human genbank 54_36p 1 validated missense c.106 p.E36Q 0.99 NULL NULL - no_errors RAD54L 8438 genome.wustl.edu 36 1 46516416 46516416 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46516416 46516416 A G SNP RAD54L NM_003579 human genbank 54_36p 1 reviewed missense c.2119 p.N707D 1 NULL "HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors FAAH 2166 genome.wustl.edu 36 1 46644044 46644044 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46644044 46644044 A G SNP FAAH NM_001441 human genbank 54_36p 1 reviewed missense c.776 p.N259S 0.81 "superfamily_Amidase_sig_enz,HMMPfam_Amidase" "superfamily_Amidase_sig_enz,HMMPfam_Amidase,PatternScan_AMIDASES" - no_errors DMBX1 127343 genome.wustl.edu 36 1 46750477 46750477 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 46750477 46750477 G A SNP DMBX1 NM_147192 human genbank 54_36p 1 reviewed silent c.873 p.P291 0.84 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR" - no_errors MKNK1 8569 genome.wustl.edu 36 1 46824234 46824234 + Splice_Site SNP C G C novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 46824234 46824234 C G SNP MKNK1 ENST00000371949 human ensembl 54_36p -1 known splice_site c.1-1 e1-1 1 - - - no_errors CYP4Z2P 163720 genome.wustl.edu 36 1 47097990 47097990 + RNA SNP A A C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 47097990 47097990 A C SNP CYP4Z2P NR_002788 human genbank 54_36p -1 provisional rna NULL NULL 0.99 - - - pseudogene CYP4A11 1579 genome.wustl.edu 36 1 47171248 47171248 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 47171248 47171248 G T SNP CYP4A11 NM_000778 human genbank 54_36p -1 reviewed missense c.1281 p.N427K 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP4X1 260293 genome.wustl.edu 36 1 47274354 47274354 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 47274354 47274354 C G SNP CYP4X1 NM_178033 human genbank 54_36p 1 reviewed missense c.699 p.H233Q 1 "superfamily_Cytochrome P450,HMMPfam_p450" "superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450" - no_errors SLC5A9 200010 genome.wustl.edu 36 1 48470284 48470284 + Silent SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 48470284 48470284 C A SNP SLC5A9 NM_001011547 human genbank 54_36p 1 validated silent c.825 p.T275 1 HMMPfam_SSF "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1" - no_errors SLC5A9 200010 genome.wustl.edu 36 1 48477635 48477635 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 48477635 48477635 C T SNP SLC5A9 NM_001011547 human genbank 54_36p 1 validated silent c.1570 p.L524 1 NULL "HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1" - no_errors SPATA6 54558 genome.wustl.edu 36 1 48593979 48593979 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 48593979 48593979 G A SNP SPATA6 NM_019073 human genbank 54_36p -1 provisional missense c.1144 p.R382W 1 NULL NULL - no_errors LOC343184 343184 genome.wustl.edu 36 1 50564582 50564582 + RNA SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 50564582 50564582 C T SNP LOC343184 XR_016832 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene FAF1 11124 genome.wustl.edu 36 1 50713925 50713925 + Silent SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 50713925 50713925 G C SNP FAF1 NM_007051 human genbank 54_36p -1 reviewed silent c.1668 p.S556 1 NULL "superfamily_Ubiquitin-like,HMMSmart_SM00594,HMMSmart_SM00166,HMMPfam_UBX" - no_errors CFLP2 391039 genome.wustl.edu 36 1 51396749 51396749 + RNA SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 51396749 51396749 G C SNP LOC391039 XR_017560 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene ZFYVE9 9372 genome.wustl.edu 36 1 52584418 52584418 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 52584418 52584418 C G SNP ZFYVE9 NM_004799 human genbank 54_36p 1 reviewed missense c.4215 p.C1405W 1 NULL "HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors ZCCHC11 23318 genome.wustl.edu 36 1 52713761 52713761 + Silent SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 52713761 52713761 G A SNP ZCCHC11 NM_001009881 human genbank 54_36p -1 validated silent c.2058 p.S686 1 superfamily_PAP/OAS1 substrate-binding domain "PatternScan_ZINC_FINGER_C2H2_1,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMPfam_NTP_transf_2" - no_errors SLC1A7 6512 genome.wustl.edu 36 1 53327187 53327187 + Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 53327187 53327187 T A SNP SLC1A7 NM_006671 human genbank 54_36p -1 validated missense c.1414 p.I472F 1 HMMPfam_SDF "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" - no_errors CDCP2 200008 genome.wustl.edu 36 1 54378331 54378331 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 54378331 54378331 T A SNP CDCP2 NM_201546 human genbank 54_36p -1 provisional missense c.800 p.N267I 1 "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" - no_errors PARS2 25973 genome.wustl.edu 36 1 54996168 54996168 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 54996168 54996168 C A SNP PARS2 NM_152268 human genbank 54_36p -1 provisional nonsense c.1255 p.G419* 1 "superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" "superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b,superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" - no_errors BSND 7809 genome.wustl.edu 36 1 55245270 55245270 + Silent SNP G G A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 55245270 55245270 G A SNP BSND NM_057176 human genbank 54_36p 1 reviewed silent c.285 p.Q95 0.97 NULL NULL - no_errors PCSK9 255738 genome.wustl.edu 36 1 55296327 55296327 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 55296327 55296327 C A SNP PCSK9 NM_174936 human genbank 54_36p 1 reviewed missense c.1211 p.P404Q 0.51 "superfamily_Subtilisin-like,HMMPfam_Peptidase_S8" "superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9,superfamily_Subtilisin-like,HMMPfam_Peptidase_S8" - no_errors USP24 23358 genome.wustl.edu 36 1 55316852 55316852 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 55316852 55316852 A G SNP USP24 NM_015306 human genbank 54_36p -1 validated missense c.6781 p.Y2261H 1 NULL "superfamily_Ubiquitin-like,PatternScan_SUGAR_TRANSPORT_1,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors OR4F5 79501 genome.wustl.edu 36 1 59401 59401 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 59401 59401 G A SNP OR4F5 NM_001005484 human genbank 54_36p 1 provisional missense c.448 p.V150M 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FGGY 55277 genome.wustl.edu 36 1 60000837 60000837 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 60000837 60000837 A G SNP FGGY NM_018291 human genbank 54_36p 1 validated missense c.1313 p.D438G 0.02 NULL "superfamily_SSF53067,HMMPfam_FGGY_C" - no_errors CYP2J2 1573 genome.wustl.edu 36 1 60131951 60131951 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 60131951 60131951 G T SNP CYP2J2 NM_000775 human genbank 54_36p -1 reviewed missense c.1469 p.S490Y 0.07 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CHD5 26038 genome.wustl.edu 36 1 6129510 6129511 + Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 6129510 6129511 - G INS CHD5 NM_015557 human genbank 54_36p -1 provisional frame_shift_ins c.1392_1391 p.L465fs 0.408:0.998 "superfamily_FYVE_PHD_ZnF,superfamily_Chromodomain-like" ############################################################################################################################################################################################################################################################### - no_errors TM2D1 83941 genome.wustl.edu 36 1 61963351 61963351 + Silent SNP A C C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 61963351 61963351 A C SNP TM2D1 NM_032027 human genbank 54_36p -1 reviewed silent c.30 p.S10 0 NULL HMMPfam_TM2 - no_errors KANK4 163782 genome.wustl.edu 36 1 62509743 62509743 + Silent SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 62509743 62509743 G A SNP KANK4 NM_181712 human genbank 54_36p -1 validated silent c.2007 p.N669 1 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors USP1 7398 genome.wustl.edu 36 1 62688607 62688607 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 62688607 62688607 C G SNP USP1 NM_001017415 human genbank 54_36p 1 reviewed missense c.1725 p.S575R 1 "superfamily_SSF54001,HMMPfam_UCH" "superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors DOCK7 85440 genome.wustl.edu 36 1 62892020 62892020 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 62892020 62892020 C G SNP DOCK7 NM_033407 human genbank 54_36p -1 validated missense c.353 p.R118T 1 NULL HMMPfam_Ded_cyto - no_errors ATG4C 84938 genome.wustl.edu 36 1 63102353 63102353 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 63102353 63102353 C A SNP ATG4C NM_032852 human genbank 54_36p 1 reviewed missense c.1312 p.L438I 1 NULL HMMPfam_Peptidase_C54 - no_errors PGM1 5236 genome.wustl.edu 36 1 63874627 63874627 + Silent SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 63874627 63874627 C T SNP PGM1 NM_002633 human genbank 54_36p 1 provisional silent c.1008 p.P336 1 "superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_III" "superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,PatternScan_PGM_PMM,HMMPfam_PGM_PMM_II,HMMPfam_PGM_PMM_III,superfamily_Phosphoglucomutase C-terminal domain,HMMPfam_PGM_PMM_IV" - no_errors ROR1 4919 genome.wustl.edu 36 1 64375704 64375704 + Missense_Mutation SNP G A G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 64375704 64375704 G A SNP ROR1 NM_005012 human genbank 54_36p 1 validated missense c.547 p.G183S 1 HMMPfam_Fz ############################################################################################################################################################################################################################################################### - no_errors CACHD1 57685 genome.wustl.edu 36 1 64902807 64902807 + Silent SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 64902807 64902807 C G SNP CACHD1 NM_020925 human genbank 54_36p 1 validated silent c.1980 p.V660 1 NULL "HMMPfam_VWA_N,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Cache_1,superfamily_Winged helix DNA-binding domain" - no_errors TAS1R1 80835 genome.wustl.edu 36 1 6553862 6553862 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 6553862 6553862 G C SNP TAS1R1 NM_138697 human genbank 54_36p 1 reviewed missense c.498 p.M166I 1 "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors DNAJC6 9829 genome.wustl.edu 36 1 65627639 65627639 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 65627639 65627639 G T SNP DNAJC6 NM_014787 human genbank 54_36p 1 validated nonsense c.1135 p.E379* 1 NULL "superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ" - no_errors WDR78 79819 genome.wustl.edu 36 1 67131676 67131676 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 67131676 67131676 G T SNP WDR78 NM_024763 human genbank 54_36p -1 validated missense c.354 p.D118E 0.01 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors MIER1 57708 genome.wustl.edu 36 1 67184458 67184458 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 67184458 67184458 A G SNP MIER1 NM_020948 human genbank 54_36p 1 validated missense c.143 p.H48R 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region IL12RB2 3595 genome.wustl.edu 36 1 67560092 67560092 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 67560092 67560092 T G SNP IL12RB2 NM_001559 human genbank 54_36p 1 reviewed missense c.296 p.F99C 0.86 HMMPfam_Lep_receptor_Ig "HMMPfam_Lep_receptor_Ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F2" - no_errors IL12RB2 3595 genome.wustl.edu 36 1 67567950 67567950 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 67567950 67567950 C A SNP IL12RB2 NM_001559 human genbank 54_36p 1 reviewed missense c.757 p.L253M 0.06 "HMMSmart_SM00060,superfamily_Fibronectin type III" "PatternScan_HEMATOPO_REC_L_F2,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_Lep_receptor_Ig" - no_errors CAMTA1 23261 genome.wustl.edu 36 1 6807755 6807755 + Silent SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 6807755 6807755 C T SNP CAMTA1 NM_015215 human genbank 54_36p 1 validated silent c.132 p.S44 1 NULL "HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ" - no_errors LOC645291 645291 genome.wustl.edu 36 1 68401297 68401297 + RNA SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 68401297 68401297 C T SNP LOC645291 XR_017617 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LRRC7 57554 genome.wustl.edu 36 1 69916717 69916717 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 69916717 69916717 G T SNP LRRC7 ENST00000370958 human ensembl 54_36p 1 known missense c.68 p.R23L 0.99 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1" - no_errors LRRC7 57554 genome.wustl.edu 36 1 70277021 70277021 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 70277021 70277021 G C SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.2812 p.D938H 1 NULL "superfamily_L domain-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors LRRC7 57554 genome.wustl.edu 36 1 70277270 70277270 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 70277270 70277270 G T SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.3061 p.A1021S 1 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like,superfamily_L domain-like" - no_errors LRRC7 57554 genome.wustl.edu 36 1 70291391 70291391 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 70291391 70291391 T A SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.4091 p.V1364E 1 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like,superfamily_L domain-like" - no_errors LRRC7 57554 genome.wustl.edu 36 1 70346078 70346078 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 70346078 70346078 C A SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.4487 p.P1496H 1 "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_RNI-like,superfamily_L domain-like" - no_errors NEGR1 257194 genome.wustl.edu 36 1 71849314 71849314 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 71849314 71849314 C A SNP NEGR1 NM_173808 human genbank 54_36p -1 validated missense c.771 p.W257C 1 "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig" - no_errors LRRIQ3 127255 genome.wustl.edu 36 1 74279558 74279558 + Missense_Mutation SNP T A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T A A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 74279558 74279558 T A SNP LRRIQ3 NM_001105659 human genbank 54_36p -1 inferred missense c.1645 p.S549C 0.02 NULL "superfamily_Outer arm dynein light chain 1,HMMPfam_LRR_1" - no_errors C1orf173 127254 genome.wustl.edu 36 1 74859093 74859093 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 74859093 74859093 G T SNP C1orf173 NM_001002912 human genbank 54_36p -1 predicted missense c.913 p.P305T 0 NULL NULL - no_errors TYW3 127253 genome.wustl.edu 36 1 74974865 74974865 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 74974865 74974865 A G SNP TYW3 NM_138467 human genbank 54_36p 1 provisional missense c.226 p.T76A 1 "HMMPfam_TYW3,superfamily_DUF207" "HMMPfam_TYW3,superfamily_DUF207" - no_errors LHX8 431707 genome.wustl.edu 36 1 75381411 75381411 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 75381411 75381411 C T SNP LHX8 NM_001001933 human genbank 54_36p 1 validated missense c.410 p.S137F 1 "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ACADM 34 genome.wustl.edu 36 1 75978367 75978367 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 75978367 75978367 G A SNP ACADM NM_000016 human genbank 54_36p 1 reviewed missense c.583 p.G195R 1 "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_M" "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,PatternScan_ACYL_COA_DH_2" - no_errors MSH4 4438 genome.wustl.edu 36 1 76127640 76127640 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 76127640 76127640 G T SNP MSH4 NM_002440 human genbank 54_36p 1 validated nonsense c.2224 p.E742* 1 "HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac" "superfamily_DNA_mismatch_repair_MutS_connt,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2" - no_errors CAMTA1 23261 genome.wustl.edu 36 1 7646014 7646014 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 7646014 7646014 G A SNP CAMTA1 NM_015215 human genbank 54_36p 1 validated missense c.820 p.V274M 1 NULL "HMMPfam_IQ,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_TIG,HMMPfam_CG-1,superfamily_E set domains,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LOC729708 729708 genome.wustl.edu 36 1 76938324 76938324 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 76938324 76938324 G A SNP LOC729708 XM_001133949 human genbank 54_36p 1 model missense c.263 p.R88K 1 "superfamily_Triophos_ismrse,HMMPfam_TIM" "superfamily_Triophos_ismrse,HMMPfam_TIM,PatternScan_TIM" - pseudogene ZZZ3 26009 genome.wustl.edu 36 1 77817877 77817877 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 77817877 77817877 T C SNP ZZZ3 NM_015534 human genbank 54_36p -1 provisional missense c.2005 p.K669E 1 "HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like" "HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like,HMMPfam_ZZ,PatternScan_ZF_ZZ_1" - no_errors ZZZ3 26009 genome.wustl.edu 36 1 77870816 77870816 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 77870816 77870816 G A SNP ZZZ3 NM_015534 human genbank 54_36p -1 provisional missense c.812 p.S271L 0.99 NULL "HMMPfam_ZZ,PatternScan_ZF_ZZ_1,HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding" - no_errors USP33 23032 genome.wustl.edu 36 1 77952922 77952922 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 77952922 77952922 G C SNP USP33 NM_015017 human genbank 54_36p -1 validated missense c.2273 p.P758R 1 HMMSmart_SM00695 "HMMSmart_SM00290,HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,HMMSmart_SM00695" - no_errors PER3 8863 genome.wustl.edu 36 1 7802824 7802824 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 7802824 7802824 C T SNP PER3 NM_016831 human genbank 54_36p 1 reviewed missense c.1697 p.T566I 1 NULL "HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC" - no_errors PTGFR 5737 genome.wustl.edu 36 1 78774697 78774697 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 78774697 78774697 G T SNP PTGFR NM_000959 human genbank 54_36p 1 reviewed nonsense c.817 p.G273* 1 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ELTD1 64123 genome.wustl.edu 36 1 79156241 79156241 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 79156241 79156241 A G SNP ELTD1 NM_022159 human genbank 54_36p -1 validated missense c.1544 p.L515P 1 HMMPfam_7tm_2 "HMMSmart_EGF,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,superfamily_SSF57196,PatternScan_ASX_HYDROXYL,PatternScan_EF_HAND_1,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors LOC729779 729779 genome.wustl.edu 36 1 79293223 79293223 + RNA SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 79293223 79293223 G A SNP LOC729779 XR_016024 human genbank 54_36p -1 model rna NULL NULL 0.85 - - - pseudogene LOC729828 729828 genome.wustl.edu 36 1 81960068 81960068 + RNA SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 81960068 81960068 G A SNP LOC729828 XR_015671 human genbank 54_36p 1 model rna NULL NULL 0.99 - - - pseudogene LOC729828 729828 genome.wustl.edu 36 1 81961201 81961201 + RNA SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 81961201 81961201 T C SNP LOC729828 XR_015671 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene MCOLN2 255231 genome.wustl.edu 36 1 85194704 85194704 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 85194704 85194704 A G SNP MCOLN2 NM_153259 human genbank 54_36p -1 reviewed missense c.563 p.L188P 0.87 NULL HMMPfam_Ion_trans - no_errors SYDE2 84144 genome.wustl.edu 36 1 85428505 85428505 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 85428505 85428505 A C SNP SYDE2 NM_032184 human genbank 54_36p -1 validated missense c.1264 p.S422A 0.27 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors C1orf52 148423 genome.wustl.edu 36 1 85497664 85497664 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 85497664 85497664 C G SNP C1orf52 NM_198077 human genbank 54_36p -1 validated missense c.241 p.D81H 1 NULL NULL - no_errors COL24A1 255631 genome.wustl.edu 36 1 86106812 86106812 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 86106812 86106812 C T SNP COL24A1 NM_152890 human genbank 54_36p -1 validated missense c.3278 p.R1093K 0.92 HMMPfam_Collagen "HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors COL24A1 255631 genome.wustl.edu 36 1 86270166 86270173 + Frame_Shift_Del DEL CCGGAGGA CCGGAGGA - novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 CCGGAGGA CCGGAGGA CCGGAGGA - CCGGAGGA CCGGAGGA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 86270166 86270173 CCGGAGGA - DEL COL24A1 NM_152890 human genbank 54_36p -1 validated frame_shift_del c.2032_2025 p.P676fs 0.994:0.956:0.998:1.000:1.000:1.000:0.999:0.978 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" "(deletion:cds_exon[86270149,86270193])" no_errors COL24A1 255631 genome.wustl.edu 36 1 86297400 86297400 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 1 86297400 86297400 C A SNP COL24A1 NM_152890 human genbank 54_36p -1 validated missense c.1798 p.G600C 1 HMMPfam_Collagen "HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2" - no_errors CLCA2 9635 genome.wustl.edu 36 1 86672867 86672867 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 86672867 86672867 G T SNP CLCA2 NM_006536 human genbank 54_36p 1 reviewed missense c.823 p.A275S 0.74 NULL "HMMPfam_CLCA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_DUF1973" - no_errors NOC2L 26155 genome.wustl.edu 36 1 871755 871755 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 871755 871755 T G SNP NOC2L NM_015658 human genbank 54_36p -1 validated missense c.1693 p.N565H 1 HMMPfam_Noc2 HMMPfam_Noc2 - no_errors ENO1 2023 genome.wustl.edu 36 1 8846605 8846605 + Silent SNP G G A novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 8846605 8846605 G A SNP ENO1 NM_001428 human genbank 54_36p -1 reviewed silent c.999 p.N333 0 "superfamily_Enolase C-terminal domain-like,HMMPfam_Enolase_C" "HMMPfam_Enolase_N,superfamily_Enolase N-terminal domain-like,superfamily_Enolase C-terminal domain-like,HMMPfam_Enolase_C,PatternScan_ENOLASE" - no_errors ENO1 2023 genome.wustl.edu 36 1 8849058 8849058 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 8849058 8849058 G A SNP ENO1 NM_001428 human genbank 54_36p -1 reviewed silent c.534 p.F178 1 "HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like" "HMMPfam_Enolase_C,HMMPfam_Enolase_N,PatternScan_ENOLASE,superfamily_Enolase C-terminal domain-like,superfamily_Enolase N-terminal domain-like" - no_errors GBP1 2633 genome.wustl.edu 36 1 89295139 89295139 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 89295139 89295139 G A SNP GBP1 NM_002053 human genbank 54_36p -1 validated nonsense c.1141 p.Q381* 1 "HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" - no_errors GBP2 2634 genome.wustl.edu 36 1 89358540 89358540 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 89358540 89358540 G A SNP GBP2 NM_004120 human genbank 54_36p -1 reviewed missense c.338 p.S113F 1 "superfamily_SSF52540,HMMPfam_GBP" "superfamily_SSF52540,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_GBP" - no_errors GBP7 388646 genome.wustl.edu 36 1 89410183 89410183 + Silent SNP T T A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 89410183 89410183 T A SNP GBP7 NM_207398 human genbank 54_36p -1 validated silent c.24 p.P8 0 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain" - no_errors LRRC8D 55144 genome.wustl.edu 36 1 90172643 90172643 + Silent SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 90172643 90172643 G C SNP LRRC8D NM_018103 human genbank 54_36p 1 validated silent c.1428 p.L476 0.86 superfamily_SSF52058 "superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP" - no_errors SLC2A5 6518 genome.wustl.edu 36 1 9021500 9021500 + Missense_Mutation SNP C T T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 9021500 9021500 C T SNP SLC2A5 NM_003039 human genbank 54_36p -1 validated missense c.1072 p.V358M 0.82 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors ZNF326 284695 genome.wustl.edu 36 1 90255585 90255585 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 90255585 90255585 G T SNP ZNF326 NM_182976 human genbank 54_36p 1 validated missense c.1048 p.D350Y 1 HMMPfam_AKAP95 HMMPfam_AKAP95 - no_errors BARHL2 343472 genome.wustl.edu 36 1 90950709 90950709 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 90950709 90950709 G C SNP BARHL2 NM_020063 human genbank 54_36p -1 validated nonsense c.912 p.Y304* 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors LOC646784 646784 genome.wustl.edu 36 1 91262861 91262861 + RNA SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 91262861 91262861 C T SNP LOC646784 XR_017249 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene HFM1 164045 genome.wustl.edu 36 1 91554067 91554067 + Silent SNP T T C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1 91554067 91554067 T C SNP HFM1 NM_001017975 human genbank 54_36p -1 validated silent c.3033 p.L1011 0.97 HMMPfam_Sec63 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_Sec63" - no_errors TGFBR3 7049 genome.wustl.edu 36 1 91936263 91936263 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 91936263 91936263 C G SNP TGFBR3 NM_003243 human genbank 54_36p -1 validated missense c.2300 p.S767T 0.23 NULL "HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1" - no_errors TGFBR3 7049 genome.wustl.edu 36 1 91958158 91958158 + Silent SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 91958158 91958158 G A SNP TGFBR3 NM_003243 human genbank 54_36p -1 validated silent c.1293 p.S431 0 NULL "HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1" - no_errors BRDT 676 genome.wustl.edu 36 1 92214479 92214479 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 92214479 92214479 T G SNP BRDT NM_001726 human genbank 54_36p 1 validated missense c.514 p.F172V 0 NULL "superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors EVI5 7813 genome.wustl.edu 36 1 92751926 92751926 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 92751926 92751926 G T SNP EVI5 NM_005665 human genbank 54_36p -1 validated missense c.2308 p.P770T 0.96 NULL "superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164" - no_errors CCDC18 343099 genome.wustl.edu 36 1 93450248 93450248 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 93450248 93450248 T G SNP CCDC18 NM_206886 human genbank 54_36p 1 validated missense c.1691 p.I564S 1 NULL superfamily_Prefoldin - no_errors BCAR3 8412 genome.wustl.edu 36 1 93827462 93827462 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 93827462 93827462 G C SNP BCAR3 NM_003567 human genbank 54_36p -1 reviewed missense c.589 p.Q197E 1 "superfamily_Ras GEF,HMMSmart_SM00252,HMMPfam_SH2" "superfamily_Ras GEF,HMMSmart_SM00252,HMMPfam_SH2,HMMSmart_SM00147" - no_errors GCLM 2730 genome.wustl.edu 36 1 94134880 94134880 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 94134880 94134880 T C SNP GCLM NM_002061 human genbank 54_36p -1 reviewed missense c.422 p.E141G 1 superfamily_NAD(P)-linked oxidoreductase "superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red" - no_errors ABCA4 24 genome.wustl.edu 36 1 94301362 94301362 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 94301362 94301362 C A SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.1654 p.V552L 0.97 NULL "superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCA4 24 genome.wustl.edu 36 1 94321512 94321512 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 94321512 94321512 G A SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.842 p.S281L 1 NULL "HMMPfam_ABC_tran,HMMSmart_AAA,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540" - no_errors DPYD 1806 genome.wustl.edu 36 1 97787702 97787702 + Splice_Site SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 97787702 97787702 A T SNP DPYD NM_000110 human genbank 54_36p -1 reviewed splice_site c.1524+2 e12+2 1 - - - no_errors DPYD 1806 genome.wustl.edu 36 1 97787842 97787842 + Silent SNP T T G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 97787842 97787842 T G SNP DPYD NM_000110 human genbank 54_36p -1 reviewed silent c.1386 p.P462 1 HMMPfam_Pyr_redox_2 "superfamily_Helical_ferredxn,superfamily_SSF51971,HMMPfam_Pyr_redox_2,superfamily_SSF51395,HMMPfam_DHO_dh,superfamily_SSF54862,HMMPfam_Fer4,PatternScan_4FE4S_FER_1" - no_errors DPYD 1806 genome.wustl.edu 36 1 97929868 97929868 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C A C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 1 97929868 97929868 C A SNP DPYD NM_000110 human genbank 54_36p -1 reviewed missense c.755 p.G252V 1 "HMMPfam_Pyr_redox_2,superfamily_SSF51971" "HMMPfam_Fer4,superfamily_Helical_ferredxn,HMMPfam_DHO_dh,HMMPfam_Pyr_redox_2,PatternScan_4FE4S_FER_1,superfamily_SSF51395,superfamily_SSF51971,superfamily_SSF54862" - no_errors PAP2D 163404 genome.wustl.edu 36 1 99152987 99152987 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 99152987 99152987 C T SNP PAP2D NM_001037317 human genbank 54_36p -1 reviewed missense c.876 p.M292I 1 NULL "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014" - no_errors LPPR4 9890 genome.wustl.edu 36 1 99544845 99544845 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 99544845 99544845 C T SNP LPPR4 NM_014839 human genbank 54_36p 1 reviewed silent c.1983 p.Y661 0.99 NULL "superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014" - no_errors LOXL4 84171 genome.wustl.edu 36 10 100001368 100001368 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 100001368 100001368 A G SNP LOXL4 NM_032211 human genbank 54_36p -1 reviewed missense c.2033 p.I678T 1 HMMPfam_Lysyl_oxidase "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE" - no_errors ENTPD7 57089 genome.wustl.edu 36 10 101429140 101429140 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 101429140 101429140 C A SNP ENTPD7 NM_020354 human genbank 54_36p 1 validated missense c.324 p.N108K 1 HMMPfam_GDA1_CD39 "HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE" - no_errors CHUK 1147 genome.wustl.edu 36 10 101968473 101968473 + Silent SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 101968473 101968473 G A SNP CHUK NM_001278 human genbank 54_36p -1 reviewed silent c.789 p.S263 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220" "superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors BLOC1S2 282991 genome.wustl.edu 36 10 102035928 102035928 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102035928 102035928 T C SNP BLOC1S2 NM_173809 human genbank 54_36p -1 validated missense c.88 p.K30E 0.82 HMMPfam_BLOC1_2 HMMPfam_BLOC1_2 - no_errors PKD2L1 9033 genome.wustl.edu 36 10 102046741 102046741 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102046741 102046741 G T SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed missense c.1171 p.L391M 1 "HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels" "HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels" - no_errors PKD2L1 9033 genome.wustl.edu 36 10 102049456 102049456 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102049456 102049456 C A SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed missense c.359 p.G120V 1 NULL "HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels" - no_errors C10orf2 56652 genome.wustl.edu 36 10 102738267 102738267 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102738267 102738267 A T SNP C10orf2 NM_021830 human genbank 54_36p 1 validated missense c.310 p.I104F 1 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors LZTS2 84445 genome.wustl.edu 36 10 102753671 102753673 + In_Frame_Del DEL TCC TCC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 TCC TCC TCC - TCC TCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102753671 102753673 TCC - DEL LZTS2 NM_032429 human genbank 54_36p 1 provisional in_frame_del c.826_828 p.S279in_frame_del 0.987:0.996:0.980 NULL HMMPfam_Fez1 "(deletion:cds_exon[102753254,102753913])" no_errors SFXN3 81855 genome.wustl.edu 36 10 102786216 102786231 + Splice_Site DEL GGCTTTTCCACCCACA GGCTTTTCCACCCACA - novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 GGCTTTTCCACCCACA GGCTTTTCCACCCACA GGCTTTTCCACCCACA - GGCTTTTCCACCCACA GGCTTTTCCACCCACA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 102786216 102786231 GGCTTTTCCACCCACA - DEL SFXN3 NM_030971 human genbank 54_36p 1 validated splice_site_del c.444-17_444-2 e5-2 0.195:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.066:0.543:0.964:0.983:0.997:1.000 - - "(deletion:intron[102785849,102786232])" no_errors BTRC 8945 genome.wustl.edu 36 10 103211767 103211767 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 103211767 103211767 C T SNP BTRC NM_033637 human genbank 54_36p 1 reviewed missense c.196 p.P66S 1 NULL "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors MGEA5 10724 genome.wustl.edu 36 10 103536257 103536257 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 103536257 103536257 C A SNP MGEA5 NM_012215 human genbank 54_36p -1 validated nonsense c.2692 p.E898* 1 superfamily_Acyl-CoA N-acyltransferases (Nat) "HMMPfam_NAGidase,superfamily_Acyl-CoA N-acyltransferases (Nat)" - no_errors GBF1 8729 genome.wustl.edu 36 10 104101604 104101604 + Silent SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 104101604 104101604 G C SNP GBF1 NM_004193 human genbank 54_36p 1 provisional silent c.429 p.L143 1 NULL "superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7" - no_errors PSD 5662 genome.wustl.edu 36 10 104166563 104166564 + Frame_Shift_Ins INS - - G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 104166563 104166564 - G INS PSD NM_002779 human genbank 54_36p -1 provisional frame_shift_ins c.223_222 p.S74fs 0.121:0.115 NULL "HMMSmart_SM00222,HMMPfam_Sec7,superfamily_Sec7 domain,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors TRIM8 81603 genome.wustl.edu 36 10 104407016 104407016 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 104407016 104407016 G C SNP TRIM8 NM_030912 human genbank 54_36p 1 validated missense c.1571 p.W524S 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors INA 9118 genome.wustl.edu 36 10 105038213 105038213 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105038213 105038213 A C SNP INA NM_032727 human genbank 54_36p 1 validated missense c.1297 p.S433R 0.47 NULL "HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF" - no_errors TAF5 6877 genome.wustl.edu 36 10 105132993 105132993 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105132993 105132993 C G SNP TAF5 NM_006951 human genbank 54_36p 1 reviewed missense c.1543 p.L515V 1 superfamily_WD40 repeat-like "HMMPfam_TFIID_90kDa,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors CALHM1 255022 genome.wustl.edu 36 10 105208155 105208155 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105208155 105208155 A C SNP CALHM1 NM_001001412 human genbank 54_36p -1 validated missense c.344 p.V115G 1 NULL NULL - no_errors C10orf79 80217 genome.wustl.edu 36 10 105917365 105917365 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105917365 105917365 G C SNP C10orf79 ENST00000278064 human ensembl 54_36p -1 known missense c.2605 p.L869V 0.05 NULL "superfamily_WD40_like,HMMSmart_WD40" - no_errors C10orf79 80217 genome.wustl.edu 36 10 105942019 105942019 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 105942019 105942019 C T SNP C10orf79 NM_025145 human genbank 54_36p -1 predicted missense c.1474 p.G492R 0.45 superfamily_WD40 repeat-like superfamily_WD40 repeat-like - no_errors CCDC147 159686 genome.wustl.edu 36 10 106108143 106108143 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 106108143 106108143 G C SNP CCDC147 NM_001008723 human genbank 54_36p 1 validated missense c.64 p.D22H 1 NULL NULL - no_errors SORCS3 22986 genome.wustl.edu 36 10 106972958 106972958 + Silent SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 106972958 106972958 G T SNP SORCS3 NM_014978 human genbank 54_36p 1 reviewed silent c.2829 p.G943 0.99 superfamily_PKD "superfamily_SSF110296,HMMSmart_VPS10,HMMPfam_PKD,superfamily_PKD" - no_errors SORCS3 22986 genome.wustl.edu 36 10 107012229 107012229 + Silent SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 107012229 107012229 G A SNP SORCS3 NM_014978 human genbank 54_36p 1 reviewed silent c.3594 p.T1198 0.88 NULL "HMMPfam_PKD,superfamily_PKD,HMMSmart_VPS10,superfamily_SSF110296" - no_errors XPNPEP1 7511 genome.wustl.edu 36 10 111618436 111618436 + Silent SNP G G A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 111618436 111618436 G A SNP XPNPEP1 NM_020383 human genbank 54_36p -1 provisional silent c.1669 p.L557 1 "superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24" "HMMPfam_Creatinase_N,superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24,PatternScan_PROLINE_PEPTIDASE" - no_errors XPNPEP1 7511 genome.wustl.edu 36 10 111620629 111620629 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 111620629 111620629 G C SNP XPNPEP1 NM_020383 human genbank 54_36p -1 provisional missense c.1417 p.R473G 1 "HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase" "HMMPfam_Creatinase_N,HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase,PatternScan_PROLINE_PEPTIDASE" - no_errors ADD3 120 genome.wustl.edu 36 10 111882060 111882060 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 111882060 111882060 G C SNP ADD3 NM_016824 human genbank 54_36p 1 reviewed missense c.1740 p.E580D 1 NULL "superfamily_AraD-like aldolase/epimerase,HMMPfam_Aldolase_II" - no_errors VTI1A 143187 genome.wustl.edu 36 10 114565097 114565097 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 114565097 114565097 C G SNP VTI1A NM_145206 human genbank 54_36p 1 validated missense c.619 p.L207V 1 NULL "HMMPfam_V-SNARE,HMMSmart_t_SNARE" - no_errors TCF7L2 6934 genome.wustl.edu 36 10 114839151 114839151 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 114839151 114839151 C G SNP TCF7L2 ENST00000352065 human ensembl 54_36p 1 known missense c.489 p.S163R 1 HMMPfam_CTNNB1_binding "HMMPfam_CTNNB1_binding,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors HABP2 3026 genome.wustl.edu 36 10 115328441 115328441 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115328441 115328441 C T SNP HABP2 NM_004132 human genbank 54_36p 1 reviewed nonsense c.634 p.Q212* 0.25 "superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle" ############################################################################################################################################################################################################################################################### - no_errors NRAP 4892 genome.wustl.edu 36 10 115358206 115358206 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115358206 115358206 G T SNP NRAP NM_198060 human genbank 54_36p -1 validated missense c.3659 p.P1220H 1 "HMMSmart_SM00227,HMMPfam_Nebulin" "HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,HMMSmart_SM00227,HMMPfam_Nebulin" - no_errors NRAP 4892 genome.wustl.edu 36 10 115390036 115390036 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115390036 115390036 G T SNP NRAP NM_198060 human genbank 54_36p -1 validated missense c.1368 p.N456K 1 NULL "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors NRAP 4892 genome.wustl.edu 36 10 115402747 115402747 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115402747 115402747 G T SNP NRAP NM_198060 human genbank 54_36p -1 validated missense c.507 p.S169R 1 NULL "HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)" - no_errors NHLRC2 374354 genome.wustl.edu 36 10 115658198 115658198 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 115658198 115658198 G A SNP NHLRC2 NM_198514 human genbank 54_36p 1 provisional missense c.2094 p.M698I 1 NULL "superfamily_Thioredoxin-like,superfamily_NHL repeat,HMMPfam_NHL" - no_errors AFAP1L2 84632 genome.wustl.edu 36 10 116050271 116050271 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 116050271 116050271 C T SNP AFAP1L2 NM_001001936 human genbank 54_36p -1 validated missense c.1711 p.A571T 0 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors ABLIM1 3983 genome.wustl.edu 36 10 116407732 116407732 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 116407732 116407732 C T SNP ABLIM1 NM_002313 human genbank 54_36p -1 reviewed missense c.218 p.R73H 0 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153" - no_errors ATRNL1 26033 genome.wustl.edu 36 10 116879136 116879136 + Silent SNP T T C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 116879136 116879136 T C SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated silent c.678 p.S226 0.1 "superfamily_EGF/Laminin,HMMSmart_SM00181" ############################################################################################################################################################################################################################################################### - no_errors ATRNL1 26033 genome.wustl.edu 36 10 117144159 117144159 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 117144159 117144159 C G SNP ATRNL1 NM_207303 human genbank 54_36p 1 validated missense c.3176 p.A1059G 1 "PatternScan_EGF_LAM_1,superfamily_EGF/Laminin" ############################################################################################################################################################################################################################################################### - no_errors GFRA1 2674 genome.wustl.edu 36 10 117874815 117874815 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 117874815 117874815 C A SNP GFRA1 NM_005264 human genbank 54_36p -1 reviewed missense c.677 p.R226L 1 "superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF" "superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF" - no_errors C10orf96 374355 genome.wustl.edu 36 10 118106897 118106897 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118106897 118106897 A G SNP C10orf96 NM_198515 human genbank 54_36p 1 validated missense c.464 p.E155G 1 NULL NULL - no_errors PNLIPRP3 119548 genome.wustl.edu 36 10 118226224 118226224 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118226224 118226224 A T SNP PNLIPRP3 NM_001011709 human genbank 54_36p 1 validated missense c.1243 p.S415C 0.74 "superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT" "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,PatternScan_HMG_COA_REDUCTASE_1" - no_errors PNLIP 5406 genome.wustl.edu 36 10 118308707 118308707 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118308707 118308707 G A SNP PNLIP NM_000936 human genbank 54_36p 1 reviewed missense c.982 p.A328T 1 "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308" - no_errors PNLIPRP1 5407 genome.wustl.edu 36 10 118345822 118345822 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118345822 118345822 C A SNP PNLIPRP1 NM_006229 human genbank 54_36p 1 provisional missense c.572 p.T191K 1 "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases" "HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308" - no_errors VAX1 11023 genome.wustl.edu 36 10 118881738 118881738 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118881738 118881738 G T SNP VAX1 NM_199131 human genbank 54_36p -1 reviewed missense c.533 p.S178Y 0 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors VAX1 11023 genome.wustl.edu 36 10 118885982 118885982 + Silent SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 118885982 118885982 G A SNP VAX1 NM_199131 human genbank 54_36p -1 reviewed silent c.420 p.S140 1 "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" "HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like" - no_errors C10orf84 63877 genome.wustl.edu 36 10 120075697 120075697 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 120075697 120075697 C A SNP C10orf84 NM_022063 human genbank 54_36p -1 validated nonsense c.502 p.E168* 1 NULL NULL - no_errors LOC729666 729666 genome.wustl.edu 36 10 120682652 120682652 + RNA SNP T T A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 120682652 120682652 T A SNP LOC729666 XR_015620 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene GRK5 2869 genome.wustl.edu 36 10 121083300 121083300 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121083300 121083300 C G SNP GRK5 ENST00000369106 human ensembl 54_36p 1 known missense c.180 p.S60R 0 NULL NULL - no_errors BAG3 9531 genome.wustl.edu 36 10 121422103 121422103 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121422103 121422103 C T SNP BAG3 NM_004281 human genbank 54_36p 1 reviewed missense c.854 p.T285M 0.75 NULL "superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF63491,HMMPfam_BAG,HMMSmart_BAG" - no_errors BAG3 9531 genome.wustl.edu 36 10 121426356 121426356 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121426356 121426356 G A SNP BAG3 NM_004281 human genbank 54_36p 1 reviewed missense c.1300 p.G434R 0.31 "HMMPfam_BAG,HMMSmart_BAG,superfamily_SSF63491" "HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_BAG,HMMSmart_BAG,superfamily_SSF63491" - no_errors INPP5F 22876 genome.wustl.edu 36 10 121577046 121577046 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121577046 121577046 G T SNP INPP5F NM_014937 human genbank 54_36p 1 reviewed missense c.3163 p.V1055L 0.03 NULL HMMPfam_Syja_N - no_errors C10orf119 79892 genome.wustl.edu 36 10 121609371 121609371 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121609371 121609371 T A SNP C10orf119 NM_024834 human genbank 54_36p -1 validated missense c.74 p.N25I 0.98 NULL HMMPfam_DUF2044 - no_errors SEC23IP 11196 genome.wustl.edu 36 10 121667951 121667951 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 121667951 121667951 T G SNP SEC23IP NM_007190 human genbank 54_36p 1 reviewed missense c.1810 p.C604G 0.06 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_DDHD" - no_errors TACC2 10579 genome.wustl.edu 36 10 123832305 123832305 + Silent SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 123832305 123832305 G A SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed silent c.300 p.P100 0 NULL HMMPfam_TACC - no_errors TACC2 10579 genome.wustl.edu 36 10 123833228 123833228 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 123833228 123833228 C T SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed missense c.1223 p.S408F 0 NULL HMMPfam_TACC - no_errors TACC2 10579 genome.wustl.edu 36 10 123837268 123837268 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 123837268 123837268 G T SNP TACC2 NM_206862 human genbank 54_36p 1 reviewed missense c.5263 p.A1755S 0 NULL HMMPfam_TACC - no_errors DMBT1 1755 genome.wustl.edu 36 10 124380761 124380761 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 124380761 124380761 G A SNP DMBT1 NM_007329 human genbank 54_36p 1 reviewed missense c.5933 p.R1978H 0 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors LOC729794 729794 genome.wustl.edu 36 10 124479050 124479050 + Silent SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 124479050 124479050 G A SNP LOC729794 XM_001718748 human genbank 54_36p 1 model silent c.279 p.V93 0.02 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors FAM24A 118670 genome.wustl.edu 36 10 124662386 124662386 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 124662386 124662386 T C SNP FAM24A NM_001029888 human genbank 54_36p 1 inferred missense c.244 p.C82R 0.12 NULL NULL - no_errors ACADSB 36 genome.wustl.edu 36 10 124792672 124792672 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 124792672 124792672 G A SNP ACADSB NM_001609 human genbank 54_36p 1 reviewed missense c.802 p.V268I 1 superfamily_Acyl-CoA dehydrogenase NM domain-like "superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,HMMPfam_Acyl-CoA_dh_1,PatternScan_ACYL_COA_DH_2" - no_errors CPXM2 119587 genome.wustl.edu 36 10 125496310 125496310 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 125496310 125496310 C T SNP CPXM2 NM_198148 human genbank 54_36p -1 validated missense c.2231 p.R744Q 0.95 superfamily_Carboxypeptidase regulatory domain ############################################################################################################################################################################################################################################################### - no_errors C10orf137 26098 genome.wustl.edu 36 10 127399835 127399835 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 127399835 127399835 C G SNP C10orf137 NM_015608 human genbank 54_36p 1 validated missense c.181 p.R61G 0.99 NULL NULL - no_errors MMP21 118856 genome.wustl.edu 36 10 127445243 127445243 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 127445243 127445243 T C SNP MMP21 NM_147191 human genbank 54_36p -1 reviewed missense c.1688 p.H563R 0.99 NULL "superfamily_PGBD-like,HMMPfam_PG_binding_1,HMMSmart_SM00235,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Peptidase_M10,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" - no_errors DHX32 55760 genome.wustl.edu 36 10 127516947 127516947 + Splice_Site SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 127516947 127516947 C G SNP DHX32 NM_018180 human genbank 54_36p -1 reviewed splice_site c.1882-1 e10-1 1 - - - no_errors ADAM12 8038 genome.wustl.edu 36 10 127833840 127833840 + Silent SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 127833840 127833840 C T SNP ADAM12 NM_003474 human genbank 54_36p -1 reviewed silent c.285 p.T95 0.92 HMMPfam_Pep_M12B_propep ############################################################################################################################################################################################################################################################### - no_errors ADAM12 8038 genome.wustl.edu 36 10 128009048 128009048 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 128009048 128009048 C T SNP ADAM12 NM_003474 human genbank 54_36p -1 reviewed missense c.109 p.G37R 0 HMMPfam_Pep_M12B_propep ############################################################################################################################################################################################################################################################### - no_errors C10orf90 118611 genome.wustl.edu 36 10 128104618 128104619 + Nonsense_Mutation DNP TC TC AA novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 TC TC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 128104618 128104619 TC AA DNP C10orf90 NM_001004298 human genbank 54_36p -1 validated nonsense c.1993_1992 p.KKK664N* 1.000:1.000 NULL NULL - no_errors CAMK1D 57118 genome.wustl.edu 36 10 12898306 12898306 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 12898306 12898306 C T SNP CAMK1D NM_153498 human genbank 54_36p 1 reviewed missense c.806 p.T269M 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors DOCK1 1793 genome.wustl.edu 36 10 129062457 129062457 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 129062457 129062457 G A SNP DOCK1 ENST00000398025 human ensembl 54_36p 1 known missense c.3799 p.V1267I 1 NULL "superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Cytochrome_c" - no_errors MKI67 4288 genome.wustl.edu 36 10 129791228 129791228 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 129791228 129791228 G C SNP MKI67 NM_002417 human genbank 54_36p -1 reviewed missense c.8866 p.L2956V 0.05 NULL "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMPfam_K167R" - no_errors MKI67 4288 genome.wustl.edu 36 10 129795130 129795130 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 129795130 129795130 G A SNP MKI67 NM_002417 human genbank 54_36p -1 reviewed missense c.4964 p.T1655I 0 HMMPfam_K167R "HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain,HMMPfam_K167R" - no_errors CCDC3 83643 genome.wustl.edu 36 10 12980651 12980651 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 12980651 12980651 T A SNP CCDC3 NM_031455 human genbank 54_36p -1 validated missense c.584 p.E195V 1 NULL NULL - no_errors TCERG1L 256536 genome.wustl.edu 36 10 132822665 132822665 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 132822665 132822665 C G SNP TCERG1L NM_174937 human genbank 54_36p -1 validated missense c.1226 p.R409T 0 NULL "PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,superfamily_FF,HMMSmart_FF,HMMPfam_FF" - no_errors SYCE1 93426 genome.wustl.edu 36 10 135219322 135219322 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 135219322 135219322 G T SNP SYCE1 NM_130784 human genbank 54_36p -1 validated missense c.563 p.T188N 0 NULL NULL - no_errors DCLRE1C 64421 genome.wustl.edu 36 10 15016413 15016413 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15016413 15016413 G T SNP DCLRE1C NM_001033855 human genbank 54_36p -1 reviewed missense c.650 p.T217N 1 NULL "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_DRMBL" - no_errors MEIG1 644890 genome.wustl.edu 36 10 15048569 15048569 + Nonsense_Mutation SNP T T A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 15048569 15048569 T A SNP MEIG1 NM_001080836 human genbank 54_36p 1 validated nonsense c.96 p.Y32* 1 NULL NULL - no_errors NMT2 9397 genome.wustl.edu 36 10 15201474 15201474 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15201474 15201474 G C SNP NMT2 NM_004808 human genbank 54_36p -1 reviewed missense c.1044 p.I348M 1 "superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_NMT_C" "superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_NMT,PatternScan_NMT_1,HMMPfam_NMT_C,PatternScan_NMT_2" - no_errors FAM171A1 221061 genome.wustl.edu 36 10 15296371 15296371 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15296371 15296371 C A SNP FAM171A1 NM_001010924 human genbank 54_36p -1 validated missense c.1222 p.G408W 0.71 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors ITGA8 8516 genome.wustl.edu 36 10 15640161 15640161 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15640161 15640161 C T SNP ITGA8 NM_003638 human genbank 54_36p -1 provisional missense c.2684 p.R895Q 0.64 "HMMPfam_Integrin_alpha2,superfamily_SSF69179" "superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors ITGA8 8516 genome.wustl.edu 36 10 15766093 15766093 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 15766093 15766093 T C SNP ITGA8 NM_003638 human genbank 54_36p -1 provisional missense c.484 p.T162A 0 superfamily_SSF69318 "HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_SSF69179,superfamily_SSF69318" - no_errors PTER 9317 genome.wustl.edu 36 10 16566430 16566430 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 16566430 16566430 T C SNP PTER NM_001001484 human genbank 54_36p 1 validated missense c.41 p.L14P 0.01 superfamily_Metallo-dependent hydrolases "superfamily_Metallo-dependent hydrolases,HMMPfam_PTE,PatternScan_PHOSPHOTRIESTERASE_1" - no_errors PTER 9317 genome.wustl.edu 36 10 16568623 16568623 + Splice_Site SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 16568623 16568623 G C SNP PTER NM_001001484 human genbank 54_36p 1 validated splice_site c.698+1 e2+1 1 - - - no_errors CUBN 8029 genome.wustl.edu 36 10 17020969 17020969 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17020969 17020969 C G SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.5732 p.R1911T 1 "HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_CUB" "superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" - no_errors CUBN 8029 genome.wustl.edu 36 10 17022062 17022062 + Silent SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17022062 17022062 C A SNP CUBN NM_001081 human genbank 54_36p -1 reviewed silent c.5523 p.T1841 0 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors CUBN 8029 genome.wustl.edu 36 10 17125901 17125901 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17125901 17125901 T A SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.3760 p.S1254C 0.94 "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain" "PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin" - no_errors ST8SIA6 338596 genome.wustl.edu 36 10 17403280 17403280 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17403280 17403280 A C SNP ST8SIA6 NM_001004470 human genbank 54_36p -1 validated missense c.800 p.L267R 0.14 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors STAM 8027 genome.wustl.edu 36 10 17770087 17770087 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 17770087 17770087 A G SNP STAM NM_003473 human genbank 54_36p 1 reviewed missense c.353 p.E118G 1 "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288" "HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,HMMPfam_UIM,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors CACNB2 783 genome.wustl.edu 36 10 18827469 18827469 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 18827469 18827469 T A SNP CACNB2 ENST00000402317 human ensembl 54_36p 1 known missense c.351 p.F117L 0 NULL superfamily_SH3-domain - no_errors NSUN6 221078 genome.wustl.edu 36 10 18980066 18980066 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 18980066 18980066 C A SNP NSUN6 NM_182543 human genbank 54_36p -1 validated nonsense c.73 p.E25* 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_PUA domain-like,HMMPfam_PUA,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN" - no_errors C10orf113 387638 genome.wustl.edu 36 10 21454980 21454980 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 21454980 21454980 T A SNP C10orf113 NM_001010896 human genbank 54_36p -1 predicted missense c.216 p.Q72H 0.78 NULL NULL - no_errors C10orf140 387640 genome.wustl.edu 36 10 21844172 21844172 + Silent SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 21844172 21844172 C A SNP C10orf140 NM_207371 human genbank 54_36p -1 validated silent c.2586 p.G862 1 NULL "superfamily_Putative DNA-binding domain,HMMPfam_Ski_Sno,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PIP4K2A 5305 genome.wustl.edu 36 10 22866155 22866155 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 10 22866155 22866155 A T SNP PIP4K2A NM_005028 human genbank 54_36p -1 reviewed missense c.1202 p.I401N 1 "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" "superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" - no_errors KIAA1217 56243 genome.wustl.edu 36 10 24802216 24802216 + Silent SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24802216 24802216 C T SNP KIAA1217 NM_019590 human genbank 54_36p 1 validated silent c.900 p.P300 0.23 NULL NULL - no_errors KIAA1217 56243 genome.wustl.edu 36 10 24802221 24802221 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24802221 24802221 C T SNP KIAA1217 NM_019590 human genbank 54_36p 1 validated missense c.905 p.S302F 0.89 NULL NULL - no_errors ARHGAP21 57584 genome.wustl.edu 36 10 24914568 24914568 + Silent SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24914568 24914568 C T SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated silent c.4653 p.T1551 0.55 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP21 57584 genome.wustl.edu 36 10 24926891 24926891 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24926891 24926891 G C SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated missense c.3183 p.N1061K 1 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors ARHGAP21 57584 genome.wustl.edu 36 10 24948443 24948443 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 24948443 24948443 G T SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated missense c.2384 p.P795Q 0.89 NULL "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors GPR158 57512 genome.wustl.edu 36 10 25926869 25926869 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 25926869 25926869 T C SNP GPR158 NM_020752 human genbank 54_36p 1 validated missense c.2308 p.S770P 1 NULL "PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_7tm_3" - no_errors GPR158 57512 genome.wustl.edu 36 10 25927612 25927612 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 25927612 25927612 T C SNP GPR158 NM_020752 human genbank 54_36p 1 validated silent c.3051 p.G1017 0.9 NULL "HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors GPR158 57512 genome.wustl.edu 36 10 25927883 25927883 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 25927883 25927883 C T SNP GPR158 NM_020752 human genbank 54_36p 1 validated missense c.3322 p.R1108C 0 NULL "HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3" - no_errors MYO3A 53904 genome.wustl.edu 36 10 26503059 26503059 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 26503059 26503059 C A SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.3860 p.P1287H 0.13 superfamily_SSF52540 "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ" - no_errors MYO3A 53904 genome.wustl.edu 36 10 26503397 26503397 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 26503397 26503397 C T SNP MYO3A NM_017433 human genbank 54_36p 1 reviewed missense c.4198 p.H1400Y 0 NULL "HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52540" - no_errors LOC387646 387646 genome.wustl.edu 36 10 27579509 27579509 + RNA SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 27579509 27579509 G A SNP LOC387646 NR_003525 human genbank 54_36p -1 provisional rna NULL NULL 0 - - - pseudogene PTCHD3 374308 genome.wustl.edu 36 10 27727657 27727657 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 27727657 27727657 C G SNP PTCHD3 NM_001034842 human genbank 54_36p -1 validated missense c.1876 p.G626R 0.99 HMMPfam_Patched "HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain" - no_errors ARMC4 55130 genome.wustl.edu 36 10 28268882 28268882 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 28268882 28268882 T A SNP ARMC4 NM_018076 human genbank 54_36p -1 validated missense c.2047 p.N683Y 0.77 "superfamily_ARM repeat,HMMSmart_SM00185" "superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm" - no_errors MPP7 143098 genome.wustl.edu 36 10 28448650 28448650 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 28448650 28448650 C G SNP MPP7 NM_173496 human genbank 54_36p -1 validated missense c.888 p.R296S 1 "superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2" "HMMSmart_L27,HMMPfam_L27,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF52540,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin" - no_errors WAC 51322 genome.wustl.edu 36 10 28940858 28940858 + Splice_Site SNP G G T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 28940858 28940858 G T SNP WAC NM_016628 human genbank 54_36p 1 reviewed splice_site c.1437+1 e10+1 1 - - - no_errors LOC653665 653665 genome.wustl.edu 36 10 29228313 29228313 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 29228313 29228313 T C SNP LOC653665 XM_001723025 human genbank 54_36p -1 model missense c.68 p.K23R 1 "HMMPfam_Ribosomal_L21e,superfamily_Translation proteins SH3-like domain" "HMMPfam_Ribosomal_L21e,superfamily_Translation proteins SH3-like domain,PatternScan_RIBOSOMAL_L21E" - pseudogene SVIL 6840 genome.wustl.edu 36 10 29799398 29799398 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 29799398 29799398 C T SNP SVIL NM_021738 human genbank 54_36p -1 reviewed missense c.5656 p.V1886M 1 "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262" "superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153" - no_errors SVIL 6840 genome.wustl.edu 36 10 29813712 29813712 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 29813712 29813712 T A SNP SVIL NM_021738 human genbank 54_36p -1 reviewed missense c.4834 p.T1612S 1 "HMMSmart_SM00262,superfamily_Actin depolymerizing proteins" "HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors SVIL 6840 genome.wustl.edu 36 10 29817606 29817606 + Silent SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 29817606 29817606 G C SNP SVIL NM_021738 human genbank 54_36p -1 reviewed silent c.4278 p.V1426 1 NULL "HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins" - no_errors KIAA1462 57608 genome.wustl.edu 36 10 30355780 30355780 + Silent SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 30355780 30355780 C T SNP KIAA1462 NM_020848 human genbank 54_36p -1 validated silent c.3303 p.P1101 0 NULL NULL - no_errors KIAA1462 57608 genome.wustl.edu 36 10 30357215 30357216 + Frame_Shift_Del DEL CT CT - novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 CT CT CT - CT CT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 30357215 30357216 CT - DEL KIAA1462 NM_020848 human genbank 54_36p -1 validated frame_shift_del c.1868_1867 p.L624fs 1.000:1.000 NULL NULL "(deletion:cds_exon[30355038,30358801])" no_errors KIAA1462 57608 genome.wustl.edu 36 10 30357354 30357354 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 30357354 30357354 C A SNP KIAA1462 NM_020848 human genbank 54_36p -1 validated nonsense c.1729 p.E577* 1 NULL NULL - no_errors MTPAP 55149 genome.wustl.edu 36 10 30669248 30669248 + Silent SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 30669248 30669248 C T SNP MTPAP NM_018109 human genbank 54_36p -1 validated silent c.468 p.Q156 0 NULL "superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc" - no_errors LOC645954 645954 genome.wustl.edu 36 10 31014301 31014301 + RNA SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 31014301 31014301 C T SNP LOC645954 XR_017086 human genbank 54_36p 1 model rna NULL NULL 1 - - - no_errors PITRM1 10531 genome.wustl.edu 36 10 3198518 3198518 + Silent SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 3198518 3198518 C T SNP PITRM1 NM_014889 human genbank 54_36p -1 validated silent c.321 p.E107 1 superfamily_LuxS/MPP-like metallohydrolase "superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16_C,HMMPfam_M16C_assoc" - no_errors KIF5B 3799 genome.wustl.edu 36 10 32369383 32369383 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 32369383 32369383 C T SNP KIF5B NM_004521 human genbank 54_36p -1 validated missense c.223 p.E75K 1 "superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin" "superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors EPC1 80314 genome.wustl.edu 36 10 32621530 32621530 + Silent SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 32621530 32621530 G T SNP EPC1 NM_025209 human genbank 54_36p -1 provisional silent c.715 p.R239 1 NULL "HMMPfam_EPL1,HMMPfam_E_Pc_C" - no_errors C10orf68 79741 genome.wustl.edu 36 10 33040622 33040622 + Nonsense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 33040622 33040622 C T SNP C10orf68 NM_024688 human genbank 54_36p 1 validated nonsense c.448 p.Q150* 0.01 NULL NULL - no_errors NRP1 8829 genome.wustl.edu 36 10 33550667 33550667 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 33550667 33550667 C G SNP NRP1 NM_003873 human genbank 54_36p -1 validated missense c.1268 p.G423A 1 "superfamily_Galactose-binding domain-like,HMMSmart_SM00231,PatternScan_FA58C_2" "superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1" - no_errors PARD3 56288 genome.wustl.edu 36 10 34660243 34660254 + In_Frame_Del DEL GACCCAGGGAAG GACCCAGGGAAG - novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 GACCCAGGGAAG GACCCAGGGAAG GACCCAGGGAAG - GACCCAGGGAAG GACCCAGGGAAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 34660243 34660254 GACCCAGGGAAG - DEL PARD3 NM_019619 human genbank 54_36p -1 provisional in_frame_del c.2650_2639 p.PSLG880in_frame_del 0.997:0.994:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:0.885:1.000 NULL "superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" "(deletion:cds_exon[34660051,34660278])" no_errors CUL2 8453 genome.wustl.edu 36 10 35368017 35368017 + Splice_Site SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 35368017 35368017 C T SNP CUL2 NM_003591 human genbank 54_36p -1 provisional splice_site c.715-1 e8-1 1 - - - no_errors ANKRD30A 91074 genome.wustl.edu 36 10 37470809 37470809 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 37470809 37470809 T G SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated missense c.810 p.D270E 0.03 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_ASP_PROTEASE" - no_errors ANKRD30A 91074 genome.wustl.edu 36 10 37526222 37526222 + Silent SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 37526222 37526222 C T SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated silent c.2454 p.P818 0.02 NULL "PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ANKRD30A 91074 genome.wustl.edu 36 10 37546763 37546763 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 37546763 37546763 T G SNP ANKRD30A NM_052997 human genbank 54_36p 1 validated missense c.3050 p.L1017R 0.02 NULL "PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat" - no_errors ZNF248 57209 genome.wustl.edu 36 10 38166609 38166609 + Silent SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 38166609 38166609 G A SNP ZNF248 NM_021045 human genbank 54_36p -1 provisional silent c.180 p.I60 0.86 "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CCNYL2 414194 genome.wustl.edu 36 10 42285601 42285601 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 42285601 42285601 A G SNP CCNYL2 XM_374787 human genbank 54_36p -1 model missense c.350 p.V117A 0.83 NULL "HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Cyclin_N" - no_errors BMS1 9790 genome.wustl.edu 36 10 42609420 42609420 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 42609420 42609420 G T SNP BMS1 NM_014753 human genbank 54_36p 1 reviewed missense c.1204 p.G402W 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AARP2CN,HMMSmart_SM00785,HMMPfam_DUF663" - no_errors BMS1 9790 genome.wustl.edu 36 10 42645856 42645856 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 42645856 42645856 C G SNP BMS1 NM_014753 human genbank 54_36p 1 reviewed missense c.3598 p.R1200G 0.95 NULL "HMMPfam_DUF663,HMMPfam_AARP2CN,HMMSmart_SM00785,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LOC399748 399748 genome.wustl.edu 36 10 43421077 43421077 + RNA SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 43421077 43421077 C A SNP LOC399748 XR_016318 human genbank 54_36p -1 model rna NULL NULL 0.93 - - - pseudogene ZNF32 7580 genome.wustl.edu 36 10 43460106 43460106 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 43460106 43460106 G T SNP ZNF32 NM_001005368 human genbank 54_36p -1 validated missense c.220 p.Q74K 1 superfamily_SSF57667 "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors RASSF4 83937 genome.wustl.edu 36 10 44787207 44787207 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 44787207 44787207 G A SNP RASSF4 ENST00000374411 human ensembl 54_36p 1 known missense c.316 p.V106M 0.03 NULL "HMMSmart_SM00314,HMMPfam_RA" - no_start_codon AGAP4 119016 genome.wustl.edu 36 10 45641482 45641482 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 45641482 45641482 C T SNP AGAP4 NM_133446 human genbank 54_36p -1 provisional missense c.1879 p.V627I 1 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors DIP2C 22982 genome.wustl.edu 36 10 458810 458810 + Silent SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 458810 458810 G A SNP DIP2C NM_014974 human genbank 54_36p -1 reviewed silent c.558 p.S186 1 NULL "PatternScan_AMP_BINDING,HMMPfam_DMAP_binding,superfamily_SSF56801,HMMPfam_AMP-binding" - no_errors FAM21B 55747 genome.wustl.edu 36 10 47431114 47431114 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 47431114 47431114 G C SNP FAM21B NM_018232 human genbank 54_36p 1 validated missense c.976 p.G326R 0.98 NULL NULL - no_errors ZNF488 118738 genome.wustl.edu 36 10 47991112 47991112 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 47991112 47991112 C A SNP ZNF488 NM_153034 human genbank 54_36p 1 provisional missense c.574 p.L192M 0.92 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors GDF2 2658 genome.wustl.edu 36 10 48033912 48033912 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 48033912 48033912 G C SNP GDF2 NM_016204 human genbank 54_36p -1 reviewed missense c.962 p.A321G 0.04 superfamily_Cystine-knot cytokines "HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1" - no_errors GDF2 2658 genome.wustl.edu 36 10 48036475 48036475 + Silent SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 48036475 48036475 G C SNP GDF2 NM_016204 human genbank 54_36p -1 reviewed silent c.225 p.V75 0.97 HMMPfam_TGFb_propeptide "HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1,superfamily_Cystine-knot cytokines" - no_errors AKR1C1 1645 genome.wustl.edu 36 10 5004864 5004864 + Silent SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 5004864 5004864 C T SNP AKR1C1 NM_001353 human genbank 54_36p 1 reviewed silent c.769 p.L257 1 "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red" "superfamily_Aldo/ket_red,HMMPfam_Aldo_ket_red,PatternScan_ALDOKETO_REDUCTASE_1,PatternScan_ALDOKETO_REDUCTASE_2,PatternScan_ALDOKETO_REDUCTASE_3" - no_errors ERCC6 2074 genome.wustl.edu 36 10 50378606 50378606 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 50378606 50378606 G C SNP ERCC6 NM_000124 human genbank 54_36p -1 reviewed missense c.1669 p.R557G 1 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors ERCC6 2074 genome.wustl.edu 36 10 50378705 50378705 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 50378705 50378705 G A SNP ERCC6 NM_000124 human genbank 54_36p -1 reviewed nonsense c.1570 p.Q524* 1 "HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540" "HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMSmart_DEXDc,superfamily_SSF52540" - no_errors PARG 8505 genome.wustl.edu 36 10 50739698 50739698 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 50739698 50739698 G A SNP PARG ENST00000402038 human ensembl 54_36p -1 known missense c.2147 p.T716I 0.75 HMMPfam_PARG_cat HMMPfam_PARG_cat - no_errors PARG 8505 genome.wustl.edu 36 10 50757751 50757751 + Silent SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 50757751 50757751 A G SNP PARG ENST00000402038 human ensembl 54_36p -1 known silent c.1962 p.S654 1 HMMPfam_PARG_cat HMMPfam_PARG_cat - no_errors AGAP7 653268 genome.wustl.edu 36 10 51134838 51134838 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 51134838 51134838 G A SNP AGAP7 NM_001077685 human genbank 54_36p -1 provisional missense c.1624 p.R542W 1 "superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK" "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank" - no_errors MSMB 4477 genome.wustl.edu 36 10 51232387 51232387 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 51232387 51232387 T A SNP MSMB NM_002443 human genbank 54_36p 1 reviewed missense c.326 p.V109D 0 HMMPfam_PSP94 HMMPfam_PSP94 - no_errors MSMB 4477 genome.wustl.edu 36 10 51232394 51232394 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 51232394 51232394 A G SNP MSMB NM_138634 human genbank 54_36p 1 reviewed missense c.227 p.N76S 0 NULL HMMPfam_PSP94 - no_errors LOC729023 729023 genome.wustl.edu 36 10 52114870 52114870 + RNA SNP A A T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 52114870 52114870 A T SNP LOC729023 XR_038278 human genbank 54_36p 1 model rna NULL NULL 0 - - - pseudogene MBL2 4153 genome.wustl.edu 36 10 54201258 54201258 + Silent SNP G G T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 54201258 54201258 G T SNP MBL2 NM_000242 human genbank 54_36p -1 reviewed silent c.144 p.G48 1 NULL "HMMPfam_Collagen,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors PCDH15 65217 genome.wustl.edu 36 10 55238564 55238564 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 55238564 55238564 G A SNP PCDH15 ENST00000395445 human ensembl 54_36p -1 known missense c.5252 p.S1751F 0 NULL "HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin" - no_errors PCDH15 65217 genome.wustl.edu 36 10 55286974 55286974 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 55286974 55286974 G T SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed missense c.3773 p.T1258N 0.98 NULL "HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like,HMMPfam_Cadherin" - no_errors PCDH15 65217 genome.wustl.edu 36 10 55625469 55625469 + Silent SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 55625469 55625469 G A SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed silent c.1285 p.L429 1 "HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like" "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like" - no_errors IPMK 253430 genome.wustl.edu 36 10 59656818 59656818 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 59656818 59656818 G A SNP IPMK NM_152230 human genbank 54_36p -1 provisional missense c.365 p.A122V 1 "superfamily_SSF56104,HMMPfam_IPK" "superfamily_SSF56104,HMMPfam_IPK" - no_errors FBXO18 84893 genome.wustl.edu 36 10 5998369 5998369 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 5998369 5998369 A T SNP FBXO18 NM_032807 human genbank 54_36p 1 reviewed missense c.1885 p.I629F 0.99 superfamily_SSF52540 "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52540" - no_errors BICC1 80114 genome.wustl.edu 36 10 60219104 60219104 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 60219104 60219104 C A SNP BICC1 NM_001080512 human genbank 54_36p 1 provisional missense c.677 p.P226H 1 NULL "HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain" - no_errors BICC1 80114 genome.wustl.edu 36 10 60230718 60230719 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 60230718 60230719 GG TT DNP BICC1 NM_001080512 human genbank 54_36p 1 provisional missense c.1921_1922 p.G641F 0.997:0.984 NULL "HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00322,superfamily_SAM/Pointed domain,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)" - no_errors SLC16A9 220963 genome.wustl.edu 36 10 61083893 61083893 + Silent SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 61083893 61083893 A G SNP SLC16A9 NM_194298 human genbank 54_36p -1 validated silent c.897 p.A299 0.25 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors ANK3 288 genome.wustl.edu 36 10 61501621 61501621 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 61501621 61501621 G C SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.9024 p.H3008Q 0.14 NULL "superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death" - no_errors ANK3 288 genome.wustl.edu 36 10 61637909 61637909 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 61637909 61637909 T C SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.1085 p.D362G 1 "HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK" "HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMSmart_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like" - no_errors PFKFB3 5209 genome.wustl.edu 36 10 6301630 6301630 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 6301630 6301630 C G SNP PFKFB3 NM_004566 human genbank 54_36p 1 validated missense c.591 p.S197R 1 "HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like,PatternScan_PG_MUTASE" - no_errors ARID5B 84159 genome.wustl.edu 36 10 63486945 63486945 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 63486945 63486945 T G SNP ARID5B NM_032199 human genbank 54_36p 1 validated missense c.910 p.S304A 0.98 superfamily_ARID-like "superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501" - no_errors LRRTM3 347731 genome.wustl.edu 36 10 68527509 68527509 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 68527509 68527509 C A SNP LRRTM3 NM_178011 human genbank 54_36p 1 validated missense c.1695 p.S565R 1 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1" - no_errors CTNNA3 29119 genome.wustl.edu 36 10 68610279 68610279 + Silent SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 68610279 68610279 T C SNP CTNNA3 NM_013266 human genbank 54_36p -1 validated silent c.849 p.L283 1 HMMPfam_Vinculin "HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin" - no_errors DNA2 1763 genome.wustl.edu 36 10 69852350 69852350 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 69852350 69852350 T A SNP DNA2 NM_001080449 human genbank 54_36p -1 provisional missense c.2678 p.E893V 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_Dna2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TET1 80312 genome.wustl.edu 36 10 70076113 70076113 + Silent SNP T T G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70076113 70076113 T G SNP TET1 NM_030625 human genbank 54_36p 1 validated silent c.3621 p.P1207 0 NULL HMMPfam_zf-CXXC - no_errors TET1 80312 genome.wustl.edu 36 10 70076261 70076261 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70076261 70076261 G T SNP TET1 NM_030625 human genbank 54_36p 1 validated missense c.3769 p.V1257F 0.88 NULL HMMPfam_zf-CXXC - no_errors TET1 80312 genome.wustl.edu 36 10 70116184 70116184 + Missense_Mutation SNP T T A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70116184 70116184 T A SNP TET1 NM_030625 human genbank 54_36p 1 validated missense c.5118 p.H1706Q 0.99 NULL HMMPfam_zf-CXXC - no_errors CCAR1 55749 genome.wustl.edu 36 10 70166669 70166669 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70166669 70166669 T C SNP CCAR1 NM_018237 human genbank 54_36p 1 validated missense c.104 p.L35P 1 NULL "superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,superfamily_EF-hand" - no_errors CCAR1 55749 genome.wustl.edu 36 10 70177005 70177005 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70177005 70177005 G C SNP CCAR1 NM_018237 human genbank 54_36p 1 validated missense c.600 p.W200C 1 NULL "HMMPfam_SAP,HMMSmart_SM00513,superfamily_EF-hand,superfamily_SAP domain" - no_errors DDX50 79009 genome.wustl.edu 36 10 70365827 70365827 + Silent SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 10 70365827 70365827 C T SNP DDX50 NM_024045 human genbank 54_36p 1 reviewed silent c.1581 p.S527 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_GUCT" - no_errors DDX21 9188 genome.wustl.edu 36 10 70391886 70391886 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70391886 70391886 C A SNP DDX21 NM_004728 human genbank 54_36p 1 reviewed missense c.574 p.P192T 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_GUCT" - no_errors KIAA1279 26128 genome.wustl.edu 36 10 70446172 70446172 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70446172 70446172 G A SNP KIAA1279 NM_015634 human genbank 54_36p 1 validated silent c.1860 p.L620 0.97 NULL superfamily_SSF48452 - no_errors HKDC1 80201 genome.wustl.edu 36 10 70680337 70680337 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 70680337 70680337 T G SNP HKDC1 NM_025130 human genbank 54_36p 1 validated missense c.1759 p.Y587D 1 "superfamily_Actin-like ATPase domain,HMMPfam_Hexokinase_1" "HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES" - no_errors C10orf35 219738 genome.wustl.edu 36 10 71062718 71062718 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 71062718 71062718 C A SNP C10orf35 NM_145306 human genbank 54_36p 1 validated missense c.263 p.P88Q 1 NULL NULL - no_errors COL13A1 1305 genome.wustl.edu 36 10 71348079 71348079 + Silent SNP G G A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 71348079 71348079 G A SNP COL13A1 NM_005203 human genbank 54_36p 1 reviewed silent c.1029 p.K343 1 HMMPfam_Collagen HMMPfam_Collagen - no_errors KIAA1274 27143 genome.wustl.edu 36 10 71961158 71961158 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 71961158 71961158 T A SNP KIAA1274 NM_014431 human genbank 54_36p 1 validated missense c.575 p.L192H 1 NULL superfamily_SSF52799 - no_errors KIAA1274 27143 genome.wustl.edu 36 10 71968077 71968077 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 71968077 71968077 G T SNP KIAA1274 NM_014431 human genbank 54_36p 1 validated missense c.1359 p.W453C 1 NULL superfamily_SSF52799 - no_errors ADAMTS14 140766 genome.wustl.edu 36 10 72162034 72162034 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 72162034 72162034 G A SNP ADAMTS14 NM_139155 human genbank 54_36p 1 reviewed missense c.1130 p.G377D 1 "superfamily_SSF55486,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS14 140766 genome.wustl.edu 36 10 72173420 72173420 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 72173420 72173420 G A SNP ADAMTS14 NM_139155 human genbank 54_36p 1 reviewed missense c.2044 p.V682I 0.97 NULL "HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,superfamily_SSF55486" - no_errors LOC338611 338611 genome.wustl.edu 36 10 72224212 72224212 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 72224212 72224212 C T SNP LOC338611 XM_001130386 human genbank 54_36p -1 model missense c.74 p.C25Y 1 HMMPfam_Ribosomal_S26e "HMMPfam_Ribosomal_S26e,PatternScan_RIBOSOMAL_S26E" - pseudogene SFMBT2 57713 genome.wustl.edu 36 10 7245767 7245767 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 7245767 7245767 C A SNP SFMBT2 NM_001029880 human genbank 54_36p -1 provisional missense c.2656 p.V886L 1 "HMMSmart_SM00454,HMMPfam_SAM_2" "superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2" - no_errors SFMBT2 57713 genome.wustl.edu 36 10 7279543 7279543 + Silent SNP C C G novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 7279543 7279543 C G SNP SFMBT2 NM_001029880 human genbank 54_36p -1 provisional silent c.1671 p.P557 0.82 NULL "HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,superfamily_Tudor/PWWP/MBT" - no_errors C10orf54 64115 genome.wustl.edu 36 10 73190679 73190679 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 73190679 73190679 C G SNP C10orf54 NM_022153 human genbank 54_36p -1 validated missense c.520 p.A174P 0.01 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409" - no_errors PSAP 5660 genome.wustl.edu 36 10 73251668 73251668 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 73251668 73251668 G A SNP PSAP NM_001042465 human genbank 54_36p -1 reviewed missense c.889 p.P297S 1 NULL "HMMPfam_SapA,HMMSmart_SAPA,superfamily_Saposin_like,HMMPfam_SapB_1,HMMSmart_SapB,HMMPfam_SapB_2" - no_errors ANAPC16 119504 genome.wustl.edu 36 10 73653810 73653810 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 73653810 73653810 G C SNP C10orf104 NM_173473 human genbank 54_36p 1 validated missense c.132 p.E44D 1 NULL NULL - no_errors OIT3 170392 genome.wustl.edu 36 10 74362137 74362137 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74362137 74362137 G T SNP OIT3 NM_152635 human genbank 54_36p 1 provisional missense c.1487 p.R496L 0.99 "HMMPfam_Zona_pellucida,HMMSmart_SM00241" "superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_CA,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241" - no_errors P4HA1 5033 genome.wustl.edu 36 10 74480988 74480988 + Silent SNP A A T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74480988 74480988 A T SNP P4HA1 NM_000917 human genbank 54_36p -1 reviewed silent c.729 p.G243 1 superfamily_TPR-like "HMMPfam_P4Ha_N,superfamily_TPR-like,HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy" - no_errors TTC18 118491 genome.wustl.edu 36 10 74783467 74783467 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74783467 74783467 C A SNP TTC18 NM_145170 human genbank 54_36p -1 provisional missense c.103 p.A35S 1 NULL "HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1" - no_errors ZMYND17 118490 genome.wustl.edu 36 10 74855969 74855969 + Silent SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74855969 74855969 C T SNP ZMYND17 NM_001024593 human genbank 54_36p -1 validated silent c.675 p.P225 0.01 NULL "HMMPfam_zf-MYND,PatternScan_ZF_MYND_1" - no_errors USP54 159195 genome.wustl.edu 36 10 74972831 74972831 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 74972831 74972831 G A SNP USP54 NM_152586 human genbank 54_36p -1 provisional missense c.440 p.A147V 1 superfamily_Cysteine proteinases "superfamily_Cysteine proteinases,HMMPfam_UCH" - no_errors KIAA0913 23053 genome.wustl.edu 36 10 75227656 75227656 + Silent SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 75227656 75227656 G T SNP KIAA0913 NM_015037 human genbank 54_36p 1 validated silent c.3774 p.G1258 1 NULL HMMPfam_SWIM - no_errors MYST4 23522 genome.wustl.edu 36 10 76458706 76458706 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 76458706 76458706 A G SNP MYST4 NM_012330 human genbank 54_36p 1 validated missense c.4118 p.E1373G 1 NULL "HMMSmart_SM00526,superfamily_Winged helix DNA-binding domain,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS" - no_errors MYST4 23522 genome.wustl.edu 36 10 76459441 76459441 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 76459441 76459441 G T SNP MYST4 NM_012330 human genbank 54_36p 1 validated missense c.4853 p.S1618I 0.94 NULL "HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_Winged helix DNA-binding domain" - no_errors DUPD1 338599 genome.wustl.edu 36 10 76488091 76488091 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 76488091 76488091 T C SNP DUPD1 NM_001003892 human genbank 54_36p -1 provisional missense c.188 p.Y63C 1 "superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc" "superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc,PatternScan_TYR_PHOSPHATASE_1" - no_errors KCNMA1 3778 genome.wustl.edu 36 10 78614645 78614645 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 78614645 78614645 A C SNP KCNMA1 NM_001014797 human genbank 54_36p -1 reviewed missense c.638 p.F213C 1 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_BK_channel_a,PatternScan_N6_MTASE" - no_errors KIN 22944 genome.wustl.edu 36 10 7862042 7862042 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 7862042 7862042 T C SNP KIN NM_012311 human genbank 54_36p -1 reviewed missense c.359 p.K120R 1 HMMPfam_Kin17_mid "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_Kin17_mid" - no_errors DLG5 9231 genome.wustl.edu 36 10 79246325 79246325 + Silent SNP T T G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 79246325 79246325 T G SNP DLG5 NM_004747 human genbank 54_36p -1 reviewed silent c.4015 p.R1339 0.96 superfamily_PDZ domain-like ############################################################################################################################################################################################################################################################### - no_errors DLG5 9231 genome.wustl.edu 36 10 79271717 79271731 + In_Frame_Del DEL CAGCTCCACTTCGGT CAGCTCCACTTCGGT - novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 CAGCTCCACTTCGGT CAGCTCCACTTCGGT CAGCTCCACTTCGGT - CAGCTCCACTTCGGT CAGCTCCACTTCGGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 79271717 79271731 CAGCTCCACTTCGGT - DEL DLG5 NM_004747 human genbank 54_36p -1 reviewed in_frame_del c.1365_1351 p.TEVEL451in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.936:1.000:1.000 NULL ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[79271645,79271957])" no_errors ZMIZ1 57178 genome.wustl.edu 36 10 80734929 80734929 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 80734929 80734929 C A SNP ZMIZ1 NM_020338 human genbank 54_36p 1 validated nonsense c.2289 p.C763* 1 "superfamily_RING/U-box,HMMPfam_zf-MIZ" "superfamily_RING/U-box,HMMPfam_zf-MIZ" - no_errors GATA3 2625 genome.wustl.edu 36 10 8140557 8140557 + Silent SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 8140557 8140557 G A SNP GATA3 NM_001002295 human genbank 54_36p 1 validated silent c.525 p.S175 0.88 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA" - no_errors TUBB8 347688 genome.wustl.edu 36 10 83295 83295 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 83295 83295 G C SNP TUBB8 NM_177987 human genbank 54_36p -1 provisional missense c.1037 p.P346R 1 "superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" "PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C" - no_errors LARP4B 23185 genome.wustl.edu 36 10 865530 865530 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 865530 865530 C T SNP LARP5 NM_015155 human genbank 54_36p -1 provisional missense c.920 p.R307Q 1 NULL "superfamily_Winged helix DNA-binding domain,HMMSmart_SM00715,HMMPfam_La" - no_errors GRID1 2894 genome.wustl.edu 36 10 87477688 87477688 + Silent SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 87477688 87477688 G A SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed silent c.1437 p.G479 1 "HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd" "superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,PatternScan_ALDEHYDE_DEHYDR_GLU" - no_errors GRID1 2894 genome.wustl.edu 36 10 87479305 87479305 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 87479305 87479305 T A SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed missense c.1280 p.E427V 1 superfamily_Periplasmic binding protein-like I "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,PatternScan_ALDEHYDE_DEHYDR_GLU,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors GRID1 2894 genome.wustl.edu 36 10 87956304 87956304 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 87956304 87956304 G A SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed missense c.317 p.T106M 1 "HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I" "HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,PatternScan_ALDEHYDE_DEHYDR_GLU,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II" - no_errors LDB3 11155 genome.wustl.edu 36 10 88441666 88441666 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 88441666 88441666 C T SNP LDB3 NM_007078 human genbank 54_36p 1 reviewed silent c.723 p.S241 1 NULL "HMMPfam_PDZ,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMSmart_SM00735,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,HMMPfam_LIM,PatternScan_LIM_DOMAIN_1" - no_errors FAM35A 54537 genome.wustl.edu 36 10 88920679 88920679 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 88920679 88920679 C G SNP FAM35A NM_019054 human genbank 54_36p 1 validated missense c.1931 p.A644G 1 NULL NULL - no_errors PTEN 5728 genome.wustl.edu 36 10 89701885 89701885 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 89701885 89701885 G T SNP PTEN NM_000314 human genbank 54_36p 1 reviewed missense c.523 p.V175L 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors RNLS 55328 genome.wustl.edu 36 10 90112411 90112411 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 90112411 90112411 C G SNP C10orf59 NM_001031709 human genbank 54_36p -1 provisional missense c.578 p.R193P 1 superfamily_FAD/NAD(P)-binding domain "HMMPfam_FAD_binding_3,superfamily_FAD/NAD(P)-binding domain" - no_errors LIPJ 142910 genome.wustl.edu 36 10 90356418 90356418 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 90356418 90356418 C A SNP LIPJ NM_001010939 human genbank 54_36p 1 provisional missense c.875 p.S292Y 0.33 "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" "HMMPfam_Abhydro_lipase,superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" - no_errors LOC119358 119358 genome.wustl.edu 36 10 91728509 91728509 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 91728509 91728509 G A SNP LOC119358 XM_061427 human genbank 54_36p 1 model missense c.56 p.R19Q 1 NULL "superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651" - no_errors SRP9L1 653226 genome.wustl.edu 36 10 93556982 93556982 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 93556982 93556982 G T SNP LOC653226 XM_927451 human genbank 54_36p -1 model missense c.195 p.F65L 1 "HMMPfam_SRP9,superfamily_Signal recognition particle alu RNA binding heterodimer SRP9/14" "HMMPfam_SRP9,superfamily_Signal recognition particle alu RNA binding heterodimer SRP9/14" - no_errors TNKS2 80351 genome.wustl.edu 36 10 93592071 93592071 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 93592071 93592071 G C SNP TNKS2 NM_025235 human genbank 54_36p 1 validated missense c.2002 p.D668H 1 superfamily_ANK "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_2,superfamily_SSF56399,HMMPfam_PARP" - no_errors HHEX 3087 genome.wustl.edu 36 10 94444440 94444440 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 94444440 94444440 A G SNP HHEX NM_002729 human genbank 54_36p 1 reviewed missense c.748 p.I250V 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors LOC387703 387703 genome.wustl.edu 36 10 94958431 94958431 + RNA SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 94958431 94958431 G T SNP LOC387703 XR_016730 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene PDE6C 5146 genome.wustl.edu 36 10 95375354 95375359 + In_Frame_Del DEL AGAAGT AGAAGT - novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 AGAAGT AGAAGT AGAAGT - AGAAGT AGAAGT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 95375354 95375359 AGAAGT - DEL PDE6C NM_006204 human genbank 54_36p 1 validated in_frame_del c.897_902 p.VE301in_frame_del 1.000:1.000:1.000:1.000:0.936:0.921 "HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781" "superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" "(deletion:cds_exon[95375322,95375396])" no_errors LGI1 9211 genome.wustl.edu 36 10 95543049 95543049 + Missense_Mutation SNP G G C novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 95543049 95543049 G C SNP LGI1 NM_005097 human genbank 54_36p 1 reviewed missense c.790 p.E264Q 1 HMMPfam_EPTP "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_EPTP" - no_errors CYP2C18 1562 genome.wustl.edu 36 10 96437584 96437584 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96437584 96437584 G T SNP CYP2C18 NM_000772 human genbank 54_36p 1 reviewed missense c.236 p.G79V 0.87 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C19 1557 genome.wustl.edu 36 10 96525277 96525277 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96525277 96525277 A C SNP CYP2C19 NM_000769 human genbank 54_36p 1 reviewed missense c.472 p.K158Q 0.15 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C19 1557 genome.wustl.edu 36 10 96602522 96602522 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96602522 96602522 T A SNP CYP2C19 NM_000769 human genbank 54_36p 1 reviewed missense c.1334 p.L445Q 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C9 1559 genome.wustl.edu 36 10 96721970 96721970 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96721970 96721970 G A SNP CYP2C9 NM_000771 human genbank 54_36p 1 reviewed silent c.939 p.L313 0.99 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP2C9 1559 genome.wustl.edu 36 10 96738634 96738634 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 96738634 96738634 G C SNP CYP2C9 NM_000771 human genbank 54_36p 1 reviewed missense c.1332 p.E444D 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors SORBS1 10580 genome.wustl.edu 36 10 97086482 97086482 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 97086482 97086482 C G SNP SORBS1 NM_001034954 human genbank 54_36p -1 validated missense c.3425 p.G1142A 0.86 NULL "HMMPfam_Sorb,HMMSmart_SM00459,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors ENTPD1 953 genome.wustl.edu 36 10 97589521 97589521 + Silent SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 97589521 97589521 C T SNP ENTPD1 NM_001098175 human genbank 54_36p 1 validated silent c.249 p.G83 1 HMMPfam_GDA1_CD39 "HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE" - no_errors ENTPD1 953 genome.wustl.edu 36 10 97614610 97614610 + Splice_Site SNP T T C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 97614610 97614610 T C SNP ENTPD1 NM_001098175 human genbank 54_36p 1 validated splice_site c.1347+2 e9+2 1 - - - no_errors DNTT 1791 genome.wustl.edu 36 10 98072464 98072464 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 10 98072464 98072464 C A SNP DNTT NM_004088 human genbank 54_36p 1 reviewed missense c.739 p.Q247K 0.89 "HMMSmart_SM00483,superfamily_DNA polymerase beta-like second domain,HMMPfam_DNA_pol_lambd_f" ############################################################################################################################################################################################################################################################### - no_errors LCOR 84458 genome.wustl.edu 36 10 98705139 98705139 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 98705139 98705139 G C SNP LCOR NM_032440 human genbank 54_36p 1 provisional missense c.772 p.V258L 1 NULL HMMPfam_HTH_psq - no_errors SLIT1 6585 genome.wustl.edu 36 10 98763798 98763798 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 98763798 98763798 T A SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.3077 p.N1026I 1 "superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00274,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL" ############################################################################################################################################################################################################################################################### - no_errors SLIT1 6585 genome.wustl.edu 36 10 98792711 98792711 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 98792711 98792711 G C SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.2101 p.P701A 1 "HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors SLIT1 6585 genome.wustl.edu 36 10 98814622 98814622 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 98814622 98814622 G C SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.487 p.Q163E 1 "HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like" ############################################################################################################################################################################################################################################################### - no_errors RRP12 23223 genome.wustl.edu 36 10 99131475 99131475 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 99131475 99131475 G A SNP RRP12 NM_015179 human genbank 54_36p -1 validated missense c.1307 p.T436M 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_NUC173" - no_errors CRTAC1 55118 genome.wustl.edu 36 10 99633985 99633985 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 99633985 99633985 C T SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated missense c.1600 p.E534K 0.89 NULL "superfamily_Integrin alpha N-terminal domain,HMMPfam_FG-GAP,HMMPfam_UnbV_ASPIC,superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179" - no_errors CRTAC1 55118 genome.wustl.edu 36 10 99634050 99634050 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 99634050 99634050 A C SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated missense c.1535 p.M512R 0.28 HMMPfam_UnbV_ASPIC "HMMSmart_SM00179,HMMPfam_UnbV_ASPIC,HMMPfam_EGF_CA,HMMPfam_FG-GAP,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Integrin alpha N-terminal domain" - no_errors CRTAC1 55118 genome.wustl.edu 36 10 99645642 99645642 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 99645642 99645642 C A SNP CRTAC1 NM_018058 human genbank 54_36p -1 validated missense c.1307 p.R436L 1 superfamily_Integrin alpha N-terminal domain "HMMSmart_SM00179,HMMPfam_UnbV_ASPIC,HMMPfam_EGF_CA,HMMPfam_FG-GAP,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Integrin alpha N-terminal domain" - no_errors SNORD113-5 767565 genome.wustl.edu 36 14 100474284 100474284 + RNA SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 100474284 100474284 A G SNP SNORD113-5 NR_003233 human genbank 54_36p 1 provisional rna NULL NULL 0 - - - no_errors SNORD113-9 767569 genome.wustl.edu 36 14 100481803 100481803 + RNA SNP A A T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 100481803 100481803 A T SNP SNORD113-9 NR_003237 human genbank 54_36p 1 provisional rna NULL NULL 0.93 - - - no_errors SNORD114-11 767589 genome.wustl.edu 36 14 100504268 100504268 + RNA SNP A A T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 100504268 100504268 A T SNP SNORD114-11 NR_003204 human genbank 54_36p 1 provisional rna NULL NULL 0.02 - - - no_errors RAB40AL 282808 genome.wustl.edu 36 X 102079111 102079111 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 102079111 102079111 C T SNP RAB40AL NM_001031834 human genbank 54_36p 1 provisional missense c.209 p.T70M 1 "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras" "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras,HMMSmart_SOCS,HMMPfam_SOCS_box" - no_errors RAB40AL 282808 genome.wustl.edu 36 X 102079112 102079112 + Silent SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 102079112 102079112 G T SNP RAB40AL NM_001031834 human genbank 54_36p 1 provisional silent c.210 p.T70 0.99 "HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540" "HMMPfam_SOCS_box,HMMSmart_SOCS,HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540" - no_errors IGHG2 3501 genome.wustl.edu 36 14 105180646 105180646 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105180646 105180646 A G SNP IGHG2 ENST00000390545 human ensembl 54_36p -1 known missense c.919 p.C307R 0 "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHG2 3501 genome.wustl.edu 36 14 105181466 105181466 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105181466 105181466 C G SNP IGHG2 ENST00000390544 human ensembl 54_36p -1 known missense c.310 p.V104L 0.02 superfamily_Immunoglobulin "PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENSG00000211894 0 genome.wustl.edu 36 14 105206287 105206287 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105206287 105206287 G C SNP ENSG00000211894 ENST00000390546 human ensembl 54_36p -1 known missense c.433 p.R145G 0.04 "superfamily_SSF48726,HMMPfam_C1-set" "superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENSG00000214405 0 genome.wustl.edu 36 3 105264954 105264954 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 105264954 105264954 C G SNP ENSG00000214405 ENST00000341355 human ensembl 54_36p 1 known missense c.388 p.Q130E 1 "superfamily_SSF52540,HMMPfam_Ras" "superfamily_SSF52540,HMMPfam_Ras" - no_start_codon ENSG00000180574 0 genome.wustl.edu 36 12 10550232 10550232 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10550232 10550232 C G SNP ENSG00000180574 ENST00000322446 human ensembl 54_36p 1 known missense c.464 p.A155G 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain,HMMPfam_eIF2_C" - no_errors ENSG00000211945 0 genome.wustl.edu 36 14 105712750 105712750 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105712750 105712750 A T SNP ENSG00000211945 ENST00000390605 human ensembl 54_36p -1 known missense c.209 p.I70N 0 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211964 0 genome.wustl.edu 36 14 106064967 106064967 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 106064967 106064967 G T SNP ENSG00000211964 ENST00000390624 human ensembl 54_36p -1 known missense c.243 p.D81E 0 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_stop_codon:bad_bp_length_for_coding_region PIRT 644139 genome.wustl.edu 36 17 10669679 10669679 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 10669679 10669679 C T SNP PIRT NM_001101387 human genbank 54_36p -1 validated missense c.9 p.M3I 1 NULL NULL - no_errors CBLL1 100128737 genome.wustl.edu 36 7 107176637 107176637 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 107176637 107176637 C T SNP LOC100128737 XM_001718329 human genbank 54_36p -1 model missense c.3 p.M1I 1 NULL NULL - no_errors LOC440063 440063 genome.wustl.edu 36 11 100042557 100042557 + RNA SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 100042557 100042557 C T SNP LOC440063 XR_016123 human genbank 54_36p 1 model rna NULL NULL 0.95 - - - pseudogene ANGPTL5 253935 genome.wustl.edu 36 11 101278578 101278578 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101278578 101278578 G A SNP ANGPTL5 NM_178127 human genbank 54_36p -1 validated missense c.524 p.S175F 0.83 "superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C" "superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN" - no_errors YAP1 10413 genome.wustl.edu 36 11 101605876 101605876 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101605876 101605876 T A SNP YAP1 NM_006106 human genbank 54_36p 1 reviewed missense c.1360 p.L454I 1 NULL "superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1" - no_errors BIRC3 330 genome.wustl.edu 36 11 101700819 101700819 + Silent SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101700819 101700819 A G SNP BIRC3 NM_001165 human genbank 54_36p 1 reviewed silent c.369 p.S123 0 NULL "PatternScan_ZF_RING_1,superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors BIRC3 330 genome.wustl.edu 36 11 101701193 101701193 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101701193 101701193 C G SNP BIRC3 NM_001165 human genbank 54_36p 1 reviewed missense c.743 p.S248C 0.92 superfamily_SSF57924 "HMMPfam_CARD,HMMSmart_CARD,HMMPfam_BIR,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMSmart_RING,superfamily_DEATH_like,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57924" - no_errors MMP7 4316 genome.wustl.edu 36 11 101906626 101906626 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 101906626 101906626 G T SNP MMP7 NM_002423 human genbank 54_36p -1 reviewed missense c.16 p.L6M 0 NULL "superfamily_PGBD_like,HMMPfam_PG_binding_1,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE" - no_errors MMP8 4317 genome.wustl.edu 36 11 102092270 102092270 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102092270 102092270 C A SNP MMP8 NM_002424 human genbank 54_36p -1 reviewed missense c.875 p.R292L 0.98 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN" - no_errors MMP8 4317 genome.wustl.edu 36 11 102092273 102092273 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102092273 102092273 A G SNP MMP8 NM_002424 human genbank 54_36p -1 reviewed missense c.872 p.L291P 0.96 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "superfamily_Hemopexin,HMMPfam_Peptidase_M10,PatternScan_CYSTEINE_SWITCH,HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_ZINC_PROTEASE,HMMSmart_ZnMc,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_HX,superfamily_SSF55486" - no_errors MMP8 4317 genome.wustl.edu 36 11 102098605 102098605 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102098605 102098605 C T SNP MMP8 NM_002424 human genbank 54_36p -1 reviewed missense c.112 p.E38K 0.34 "HMMPfam_PG_binding_1,superfamily_PGBD_like" "superfamily_Hemopexin,HMMPfam_Peptidase_M10,PatternScan_CYSTEINE_SWITCH,HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_ZINC_PROTEASE,HMMSmart_ZnMc,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_HX,superfamily_SSF55486" - no_errors MMP13 4322 genome.wustl.edu 36 11 102320237 102320237 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102320237 102320237 C T SNP MMP13 NM_002427 human genbank 54_36p -1 reviewed missense c.1384 p.V462I 0.92 "superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX" "HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN" - no_errors DYNC2H1 79659 genome.wustl.edu 36 11 102580816 102580816 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 102580816 102580816 C T SNP DYNC2H1 NM_001080463 human genbank 54_36p 1 provisional silent c.8367 p.F2789 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy" - no_errors CASP5 838 genome.wustl.edu 36 11 104378115 104378115 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 104378115 104378115 C G SNP CASP5 NM_004347 human genbank 54_36p -1 reviewed missense c.519 p.E173D 0 "superfamily_SSF52129,HMMSmart_CASc" "HMMSmart_CARD,superfamily_DEATH_like,HMMPfam_CARD,superfamily_SSF52129,HMMSmart_CASc,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS" - no_errors GRIA4 2893 genome.wustl.edu 36 11 105281230 105281230 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 105281230 105281230 C A SNP GRIA4 NM_000829 human genbank 54_36p 1 reviewed missense c.1151 p.P384H 0.93 superfamily_SSF53822 "superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan" - no_errors KBTBD3 143879 genome.wustl.edu 36 11 105434873 105434873 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 105434873 105434873 G T SNP KBTBD3 NM_152433 human genbank 54_36p -1 validated missense c.162 p.F54L 1 "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225" "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612" - no_errors MRVI1 10335 genome.wustl.edu 36 11 10607749 10607749 + Silent SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 10607749 10607749 C T SNP MRVI1 NM_001098579 human genbank 54_36p -1 reviewed silent c.459 p.A153 1 NULL HMMPfam_MRVI1 - no_errors LOC642732 642732 genome.wustl.edu 36 11 106201074 106201074 + RNA SNP G A A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 106201074 106201074 G A SNP LOC642732 XR_016381 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC642732 642732 genome.wustl.edu 36 11 106203375 106203375 + RNA SNP G C C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 106203375 106203375 G C SNP LOC642732 XR_016381 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene CUL5 8065 genome.wustl.edu 36 11 107430593 107430593 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107430593 107430593 G T SNP CUL5 NM_003478 human genbank 54_36p 1 validated missense c.563 p.C188F 1 "superfamily_Cullin repeat,HMMPfam_Cullin" "superfamily_Cullin repeat,HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182,superfamily_Winged helix DNA-binding domain,HMMPfam_Cullin_Nedd8,PatternScan_CULLIN_1" - no_errors ACAT1 38 genome.wustl.edu 36 11 107511134 107511134 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107511134 107511134 G T SNP ACAT1 NM_000019 human genbank 54_36p 1 reviewed missense c.390 p.M130I 1 "superfamily_Thiolase-like,HMMPfam_Thiolase_N,PatternScan_THIOLASE_1" "superfamily_Thiolase-like,HMMPfam_Thiolase_N,PatternScan_THIOLASE_1,HMMPfam_Thiolase_C,PatternScan_THIOLASE_2,PatternScan_THIOLASE_3" - no_errors ACAT1 38 genome.wustl.edu 36 11 107511160 107511160 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107511160 107511160 G A SNP ACAT1 NM_000019 human genbank 54_36p 1 reviewed missense c.416 p.S139N 1 "HMMPfam_Thiolase_N,PatternScan_THIOLASE_1,superfamily_Thiolase-like" "HMMPfam_Thiolase_N,HMMPfam_Thiolase_C,PatternScan_THIOLASE_1,PatternScan_THIOLASE_3,PatternScan_THIOLASE_2,superfamily_Thiolase-like" - no_errors NPAT 4863 genome.wustl.edu 36 11 107537471 107537471 + Silent SNP T T C novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107537471 107537471 T C SNP NPAT NM_002519 human genbank 54_36p -1 validated silent c.3552 p.S1184 0.46 NULL HMMSmart_SM00667 - no_errors ATM 472 genome.wustl.edu 36 11 107658692 107658692 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107658692 107658692 G C SNP ATM NM_000051 human genbank 54_36p 1 reviewed missense c.3622 p.D1208H 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC" - no_errors ATM 472 genome.wustl.edu 36 11 107707384 107707384 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 107707384 107707384 G A SNP ATM NM_000051 human genbank 54_36p 1 reviewed missense c.7519 p.D2507N 0.1 superfamily_ARM repeat "HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FAT,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2" - no_errors ARHGAP20 57569 genome.wustl.edu 36 11 109955919 109955919 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 109955919 109955919 G T SNP ARHGAP20 NM_020809 human genbank 54_36p -1 validated missense c.2961 p.D987E 0.01 NULL "superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_RA,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP20 57569 genome.wustl.edu 36 11 109958322 109958322 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 109958322 109958322 A T SNP ARHGAP20 NM_020809 human genbank 54_36p -1 validated missense c.1653 p.F551L 1 superfamily_GTPase activation domain GAP "HMMPfam_RA,HMMPfam_RhoGAP,HMMSmart_SM00324,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_PH domain-like" - no_errors ALG9 79796 genome.wustl.edu 36 11 111229327 111229327 + Nonsense_Mutation SNP C T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 111229327 111229327 C T SNP ALG9 NM_024740 human genbank 54_36p -1 reviewed nonsense c.882 p.W294* 1 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HSPB2 3316 genome.wustl.edu 36 11 111289671 111289671 + Silent SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 111289671 111289671 C A SNP HSPB2 NM_001541 human genbank 54_36p 1 validated silent c.391 p.R131 1 "superfamily_HSP20-like chaperones,HMMPfam_HSP20" "superfamily_HSP20-like chaperones,HMMPfam_HSP20" - no_errors DLAT 1737 genome.wustl.edu 36 11 111404779 111404779 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 111404779 111404779 C G SNP DLAT NM_001931 human genbank 54_36p 1 validated missense c.560 p.P187R 0.63 superfamily_Single hybrid motif ############################################################################################################################################################################################################################################################### - no_errors PIH1D2 120379 genome.wustl.edu 36 11 111443833 111443833 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 111443833 111443833 G A SNP PIH1D2 NM_138789 human genbank 54_36p -1 validated missense c.920 p.T307M 0.42 HMMPfam_PIH1 HMMPfam_PIH1 - no_errors NCAM1 4684 genome.wustl.edu 36 11 112583779 112583779 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 112583779 112583779 T C SNP NCAM1 ENST00000404693 human ensembl 54_36p 1 known missense c.407 p.I136T 0.97 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors ZBTB16 7704 genome.wustl.edu 36 11 113440042 113440042 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 113440042 113440042 C A SNP ZBTB16 NM_001018011 human genbank 54_36p 1 reviewed missense c.810 p.D270E 1 NULL "HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors NNMT 4837 genome.wustl.edu 36 11 113672574 113672574 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 113672574 113672574 C G SNP NNMT NM_006169 human genbank 54_36p 1 reviewed missense c.86 p.S29C 0.69 "HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" "HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_NNMT_PNMT_TEMT" - no_errors RBM7 10179 genome.wustl.edu 36 11 113783439 113783439 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 113783439 113783439 A T SNP RBM7 NM_016090 human genbank 54_36p 1 provisional missense c.501 p.Q167H 0.13 NULL "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors FAM55B 120406 genome.wustl.edu 36 11 114074434 114074434 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 114074434 114074434 G A SNP FAM55B ENST00000375475 human ensembl 54_36p 1 known missense c.590 p.S197N 1 NULL superfamily_E set domains - no_errors CADM1 23705 genome.wustl.edu 36 11 114554637 114554637 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 114554637 114554637 C A SNP CADM1 NM_014333 human genbank 54_36p -1 validated missense c.1147 p.V383L 1 NULL "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_ig,HMMSmart_SM00294" - no_errors CADM1 23705 genome.wustl.edu 36 11 114593903 114593903 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 114593903 114593903 A T SNP CADM1 NM_014333 human genbank 54_36p -1 validated missense c.740 p.I247N 1 superfamily_Immunoglobulin "HMMSmart_SM00294,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin" - no_errors SIK3 23387 genome.wustl.edu 36 11 116237306 116237306 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 116237306 116237306 T G SNP KIAA0999 NM_025164 human genbank 54_36p -1 validated missense c.2001 p.L667F 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors BACE1 23621 genome.wustl.edu 36 11 116666422 116666422 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 116666422 116666422 G C SNP BACE1 NM_012104 human genbank 54_36p -1 reviewed missense c.1256 p.A419G 1 superfamily_Acid proteases "superfamily_Acid proteases,HMMPfam_Asp,PatternScan_ASP_PROTEASE" - no_errors CEP164 22897 genome.wustl.edu 36 11 116727895 116727896 + Frame_Shift_Ins INS - - C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 116727895 116727896 - C INS CEP164 NM_014956 human genbank 54_36p 1 validated frame_shift_ins c.374_375 p.K128fs 0.964:0.403 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW" - no_errors DSCAML1 57453 genome.wustl.edu 36 11 117156448 117156448 + Missense_Mutation SNP T A A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 117156448 117156448 T A SNP DSCAML1 NM_020693 human genbank 54_36p -1 provisional missense c.514 p.I172F 1 "superfamily_Immunoglobulin,HMMSmart_SM00409" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors FXYD2 100287298 genome.wustl.edu 36 11 117196784 117196784 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 117196784 117196784 C T SNP FXYD2 NM_001680 human genbank 54_36p -1 reviewed missense c.176 p.R59K 0.24 HMMPfam_ATP1G1_PLM_MAT8 "HMMPfam_ATP1G1_PLM_MAT8,PatternScan_FXYD" - no_errors CD3D 915 genome.wustl.edu 36 11 117716412 117716412 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 117716412 117716412 G A SNP CD3D NM_000732 human genbank 54_36p -1 reviewed silent c.162 p.D54 0 superfamily_Immunoglobulin "superfamily_Immunoglobulin,HMMPfam_ITAM,HMMSmart_SM00077" - no_errors MLL 4297 genome.wustl.edu 36 11 117869054 117869054 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 117869054 117869054 G C SNP MLL NM_005933 human genbank 54_36p 1 validated missense c.5068 p.D1690H 1 HMMSmart_SM00297 ############################################################################################################################################################################################################################################################### - no_errors MLL 4297 genome.wustl.edu 36 11 117878814 117878814 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 117878814 117878814 A G SNP MLL NM_005933 human genbank 54_36p 1 validated missense c.6988 p.K2330E 0.81 NULL ############################################################################################################################################################################################################################################################### - no_errors ARCN1 372 genome.wustl.edu 36 11 117959773 117959773 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 117959773 117959773 G C SNP ARCN1 NM_001655 human genbank 54_36p 1 reviewed missense c.487 p.A163P 1 NULL "superfamily_SNARE-like,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,HMMPfam_Adap_comp_sub" - no_errors PHLDB1 23187 genome.wustl.edu 36 11 118007142 118007143 + Missense_Mutation DNP GC GC CT novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 GC GC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 118007142 118007143 GC CT DNP PHLDB1 NM_015157 human genbank 54_36p 1 validated missense c.1836_1837 p.QR612HC 1.000:1.000 NULL "superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors BCL9L 283149 genome.wustl.edu 36 11 118277624 118277624 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118277624 118277624 G A SNP BCL9L NM_182557 human genbank 54_36p -1 validated missense c.2038 p.R680W 1 NULL PatternScan_RIBOSOMAL_S6E - no_errors VPS11 55823 genome.wustl.edu 36 11 118446271 118446271 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118446271 118446271 C G SNP VPS11 ENST00000300793 human ensembl 54_36p 1 known missense c.587 p.A196G 0.99 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors VPS11 55823 genome.wustl.edu 36 11 118453922 118453922 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118453922 118453922 G A SNP VPS11 ENST00000300793 human ensembl 54_36p 1 known missense c.1694 p.G565E 0.49 NULL "HMMSmart_SM00184,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_zf-C3HC4,superfamily_RING/U-box" - no_errors HINFP 25988 genome.wustl.edu 36 11 118506671 118506671 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118506671 118506671 G C SNP HINFP NM_015517 human genbank 54_36p 1 validated missense c.208 p.E70Q 1 HMMSmart_ZnF_C2H2 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,superfamily_SSF57667" - no_errors ABCG4 64137 genome.wustl.edu 36 11 118536908 118536908 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118536908 118536908 C T SNP ABCG4 NM_022169 human genbank 54_36p 1 reviewed missense c.1823 p.A608V 0.8 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane" - no_errors MCAM 4162 genome.wustl.edu 36 11 118688545 118688545 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118688545 118688545 C T SNP MCAM NM_006500 human genbank 54_36p -1 validated missense c.763 p.E255K 1 superfamily_Immunoglobulin "HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig" - no_errors RNF26 79102 genome.wustl.edu 36 11 118712206 118712206 + Silent SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 118712206 118712206 G A SNP RNF26 NM_032015 human genbank 54_36p 1 reviewed silent c.1164 p.K388 1 "superfamily_RING/U-box,HMMPfam_zf-C3HC4" "superfamily_RING/U-box,HMMPfam_zf-C3HC4" - no_errors PVRL1 5818 genome.wustl.edu 36 11 119050543 119050543 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 119050543 119050543 C T SNP PVRL1 NM_203286 human genbank 54_36p -1 validated missense c.1028 p.G343D 0.03 NULL "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv,HMMPfam_C2-set_2,HMMSmart_IG,HMMPfam_ig" - no_errors SC5DL 6309 genome.wustl.edu 36 11 120682321 120682321 + Silent SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 120682321 120682321 C T SNP SC5DL NM_001024956 human genbank 54_36p 1 reviewed silent c.360 p.V120 0 NULL HMMPfam_FA_hydroxylase - no_errors SORL1 6653 genome.wustl.edu 36 11 120896761 120896761 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 120896761 120896761 A G SNP SORL1 NM_003105 human genbank 54_36p 1 reviewed missense c.1397 p.N466S 1 "superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602" ############################################################################################################################################################################################################################################################### - no_errors SORL1 6653 genome.wustl.edu 36 11 120926506 120926506 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 120926506 120926506 A G SNP SORL1 NM_003105 human genbank 54_36p 1 reviewed missense c.2183 p.Y728C 1 HMMSmart_SM00602 ############################################################################################################################################################################################################################################################### - no_errors SORL1 6653 genome.wustl.edu 36 11 120967008 120967008 + Silent SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 120967008 120967008 C T SNP SORL1 NM_003105 human genbank 54_36p 1 reviewed silent c.4302 p.D1434 1 "HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module" ############################################################################################################################################################################################################################################################### - no_errors MUC5B 727897 genome.wustl.edu 36 11 1220871 1220871 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 1220871 1220871 C T SNP MUC5B NM_002458 human genbank 54_36p 1 validated missense c.6194 p.T2065I 0 NULL "HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_SM00041,HMMPfam_Cys_knot,PatternScan_CTCK_1" - no_errors CRTAM 56253 genome.wustl.edu 36 11 122231688 122231688 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 122231688 122231688 G T SNP CRTAM NM_019604 human genbank 54_36p 1 validated missense c.566 p.G189V 0.01 "superfamily_Immunoglobulin,HMMPfam_C2-set_2" "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2" - no_errors C11orf63 79864 genome.wustl.edu 36 11 122279934 122279934 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 122279934 122279934 G C SNP C11orf63 NM_024806 human genbank 54_36p 1 validated missense c.436 p.A146P 0.01 NULL NULL - no_errors C11orf63 79864 genome.wustl.edu 36 11 122335312 122335312 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 122335312 122335312 C T SNP C11orf63 NM_024806 human genbank 54_36p 1 validated silent c.2286 p.H762 1 NULL NULL - no_errors MUC5B 727897 genome.wustl.edu 36 11 1223834 1223834 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 1223834 1223834 A G SNP MUC5B NM_002458 human genbank 54_36p 1 validated missense c.9157 p.T3053A 0 NULL "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL" - no_errors ASAM 79827 genome.wustl.edu 36 11 122459124 122459124 + Silent SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 122459124 122459124 G A SNP ASAM NM_024769 human genbank 54_36p -1 validated silent c.558 p.D186 1 "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig" "superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMSmart_IGc2,HMMPfam_ig" - no_errors SCN3B 55800 genome.wustl.edu 36 11 123014126 123014126 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123014126 123014126 C T SNP SCN3B NM_001040151 human genbank 54_36p -1 reviewed missense c.562 p.E188K 0.99 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409" - no_errors SCN3B 55800 genome.wustl.edu 36 11 123018415 123018415 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123018415 123018415 G A SNP SCN3B NM_001040151 human genbank 54_36p -1 reviewed missense c.394 p.R132W 0.97 "HMMSmart_SM00409,HMMPfam_V-set" "HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" - no_errors ZNF202 7753 genome.wustl.edu 36 11 123102703 123102703 + Missense_Mutation SNP T C C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123102703 123102703 T C SNP ZNF202 NM_003455 human genbank 54_36p -1 validated missense c.1159 p.T387A 0.16 NULL "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors OR6X1 390260 genome.wustl.edu 36 11 123130200 123130200 + Silent SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123130200 123130200 C T SNP OR6X1 NM_001005188 human genbank 54_36p -1 provisional silent c.237 p.L79 0.22 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4D5 219875 genome.wustl.edu 36 11 123316252 123316252 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123316252 123316252 G C SNP OR4D5 NM_001001965 human genbank 54_36p 1 provisional missense c.719 p.C240S 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR10G7 390265 genome.wustl.edu 36 11 123414444 123414444 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123414444 123414444 T C SNP OR10G7 NM_001004463 human genbank 54_36p -1 provisional missense c.475 p.T159A 0.07 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR10G7 390265 genome.wustl.edu 36 11 123414884 123414884 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123414884 123414884 A T SNP OR10G7 NM_001004463 human genbank 54_36p -1 provisional missense c.35 p.L12H 0.95 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR8G5 219865 genome.wustl.edu 36 11 123640505 123640505 + Silent SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123640505 123640505 G A SNP OR8G5 NM_001005198 human genbank 54_36p 1 provisional silent c.573 p.A191 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR8B3 390271 genome.wustl.edu 36 11 123772093 123772093 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123772093 123772093 C T SNP OR8B3 NM_001005467 human genbank 54_36p -1 provisional missense c.365 p.R122H 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8B8 26493 genome.wustl.edu 36 11 123815699 123815699 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123815699 123815699 C G SNP OR8B8 NM_012378 human genbank 54_36p -1 provisional missense c.493 p.G165R 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8A1 390275 genome.wustl.edu 36 11 123945635 123945635 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123945635 123945635 C T SNP OR8A1 NM_001005194 human genbank 54_36p 1 provisional missense c.461 p.S154F 0.08 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors VSIG2 23584 genome.wustl.edu 36 11 124123564 124123564 + Silent SNP G A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124123564 124123564 G A SNP VSIG2 NM_014312 human genbank 54_36p -1 provisional silent c.783 p.F261 0.98 NULL "superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig" - no_errors VSIG2 23584 genome.wustl.edu 36 11 124125917 124125920 + Frame_Shift_Del DEL GTCA GTCA - novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 GTCA GTCA GTCA - GTCA GTCA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124125917 124125920 GTCA - DEL VSIG2 NM_014312 human genbank 54_36p -1 provisional frame_shift_del c.330_327 p.D110fs 0.066:0.117:0.122:0.118 "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin" "HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin" "(deletion:cds_exon[124125820,124126027])" no_errors ROBO3 64221 genome.wustl.edu 36 11 124255593 124255593 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124255593 124255593 C T SNP ROBO3 NM_022370 human genbank 54_36p 1 validated missense c.4028 p.T1343M 0.96 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors ROBO4 54538 genome.wustl.edu 36 11 124268986 124268986 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124268986 124268986 G T SNP ROBO4 NM_019055 human genbank 54_36p -1 validated missense c.1484 p.A495D 0.02 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III" - no_errors CCDC15 80071 genome.wustl.edu 36 11 124362919 124362919 + Silent SNP C C G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124362919 124362919 C G SNP CCDC15 NM_025004 human genbank 54_36p 1 validated silent c.1587 p.G529 0.05 NULL NULL - no_errors PKNOX2 63876 genome.wustl.edu 36 11 124743010 124743010 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 124743010 124743010 C T SNP PKNOX2 NM_022062 human genbank 54_36p 1 validated missense c.146 p.S49L 1 NULL "PatternScan_HOMEOBOX_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox" - no_errors DDX25 29118 genome.wustl.edu 36 11 125292231 125292231 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 125292231 125292231 G C SNP DDX25 NM_013264 human genbank 54_36p 1 reviewed missense c.571 p.E191Q 1 HMMSmart_SM00487 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors CDON 50937 genome.wustl.edu 36 11 125379068 125379068 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 125379068 125379068 C A SNP CDON NM_016952 human genbank 54_36p -1 validated missense c.1965 p.M655I 1 "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors FLI1 2313 genome.wustl.edu 36 11 128185583 128185583 + Silent SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 128185583 128185583 G A SNP FLI1 NM_002017 human genbank 54_36p 1 validated silent c.849 p.L283 1 "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1" "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors NFRKB 4798 genome.wustl.edu 36 11 129244766 129244766 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 129244766 129244766 C G SNP NFRKB NM_006165 human genbank 54_36p -1 validated missense c.3439 p.G1147R 0.79 NULL NULL - no_errors APLP2 334 genome.wustl.edu 36 11 129484610 129484610 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 129484610 129484610 T C SNP APLP2 NM_001642 human genbank 54_36p 1 validated missense c.182 p.M61T 1 "HMMPfam_A4_EXTRA,HMMSmart_SM00006,superfamily_A heparin-binding domain" ############################################################################################################################################################################################################################################################### - no_errors APLP2 334 genome.wustl.edu 36 11 129515549 129515549 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 129515549 129515549 G T SNP APLP2 NM_001642 human genbank 54_36p 1 validated missense c.1920 p.E640D 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ST14 6768 genome.wustl.edu 36 11 129575215 129575215 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 129575215 129575215 A C SNP ST14 NM_021978 human genbank 54_36p 1 reviewed missense c.1967 p.H656P 1 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS" ############################################################################################################################################################################################################################################################### - no_errors SNX19 399979 genome.wustl.edu 36 11 130290258 130290258 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 130290258 130290258 C A SNP SNX19 NM_014758 human genbank 54_36p -1 validated missense c.787 p.V263L 0 "HMMPfam_PXA,HMMSmart_SM00313" "HMMPfam_PXA,HMMSmart_SM00313,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMPfam_Nexin_C" - no_errors SNX19 399979 genome.wustl.edu 36 11 130290809 130290809 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 130290809 130290809 A G SNP SNX19 NM_014758 human genbank 54_36p -1 validated missense c.236 p.L79P 1 NULL "HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,HMMPfam_PXA,HMMPfam_Nexin_C,HMMSmart_SM00313" - no_errors NTM 50863 genome.wustl.edu 36 11 131521404 131521404 + Silent SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 131521404 131521404 G A SNP NTM NM_001048209 human genbank 54_36p 1 reviewed silent c.186 p.R62 1 "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,HMMSmart_IGc2,HMMPfam_ig" - no_errors NTM 50863 genome.wustl.edu 36 11 131689818 131689818 + Silent SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 131689818 131689818 G T SNP HNT ENST00000374784 human ensembl 54_36p 1 known silent c.945 p.V315 0.96 NULL "HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726" - no_errors JAM3 83700 genome.wustl.edu 36 11 133444255 133444255 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 133444255 133444255 C A SNP JAM3 NM_032801 human genbank 54_36p 1 reviewed missense c.202 p.L68I 0.78 NULL "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig" - no_errors NCAPD3 23310 genome.wustl.edu 36 11 133533032 133533032 + Splice_Site SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 133533032 133533032 C A SNP NCAPD3 NM_015261 human genbank 54_36p -1 validated splice_site c.4174+1 e31+1 0.07 - - - no_errors PTH 5741 genome.wustl.edu 36 11 13470546 13470546 + Silent SNP A A G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 13470546 13470546 A G SNP PTH NM_000315 human genbank 54_36p -1 reviewed silent c.330 p.T110 0.06 HMMPfam_Parathyroid "HMMPfam_Parathyroid,HMMSmart_PTH,PatternScan_PARATHYROID" - no_errors FAR1 84188 genome.wustl.edu 36 11 13705692 13705692 + Missense_Mutation SNP A T T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 13705692 13705692 A T SNP FAR1 NM_032228 human genbank 54_36p 1 validated missense c.1271 p.D424V 1 HMMPfam_Sterile "superfamily_NAD(P)-bd,HMMPfam_NAD_binding_4,HMMPfam_Sterile" - no_errors CYP2R1 120227 genome.wustl.edu 36 11 14858846 14858846 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 14858846 14858846 G A SNP CYP2R1 NM_024514 human genbank 54_36p -1 reviewed nonsense c.412 p.R138* 1 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors KRTAP5-3 387266 genome.wustl.edu 36 11 1585657 1585657 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 1585657 1585657 C A SNP KRTAP5-3 NM_001012708 human genbank 54_36p -1 validated missense c.535 p.G179C 0.18 PatternScan_VWFC_1 "PatternScan_4FE4S_FER_1,PatternScan_VWFC_1" - no_errors SOX6 55553 genome.wustl.edu 36 11 15967251 15967251 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 15967251 15967251 G A SNP SOX6 NM_033326 human genbank 54_36p -1 reviewed missense c.1774 p.R592C 1 superfamily_HMG-box "superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box" - no_errors SOX6 55553 genome.wustl.edu 36 11 16296734 16296734 + Silent SNP T T G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 16296734 16296734 T G SNP SOX6 NM_033326 human genbank 54_36p -1 reviewed silent c.279 p.R93 1 NULL "HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box" - no_errors PIK3C2A 5286 genome.wustl.edu 36 11 17128748 17128748 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 17128748 17128748 G C SNP PIK3C2A NM_002645 human genbank 54_36p -1 validated missense c.1200 p.H400Q 0.01 superfamily_Ubiquitin-like ############################################################################################################################################################################################################################################################### - no_errors KCNJ11 3767 genome.wustl.edu 36 11 17365114 17365121 + Frame_Shift_Del DEL GGGCCCGC GGGCCCGC - novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 GGGCCCGC GGGCCCGC GGGCCCGC - GGGCCCGC GGGCCCGC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 17365114 17365121 GGGCCCGC - DEL KCNJ11 NM_000525 human genbank 54_36p -1 reviewed frame_shift_del c.1101_1094 p.R365fs 0.057:0.060:0.050:0.001:0.001:0.001:0.000:0.001 HMMPfam_IRK "HMMPfam_IRK,superfamily_SSF81324,superfamily_Ig_E-set" "(deletion:cds_exon[17365042,17366214])" no_errors USH1C 10083 genome.wustl.edu 36 11 17505139 17505139 + Missense_Mutation SNP C A A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 17505139 17505139 C A SNP USH1C NM_153676 human genbank 54_36p -1 reviewed missense c.521 p.S174I 1 superfamily_PDZ "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors MYOD1 4654 genome.wustl.edu 36 11 17698019 17698019 + Silent SNP G T T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 17698019 17698019 G T SNP MYOD1 NM_002478 human genbank 54_36p 1 reviewed silent c.114 p.P38 0.97 "HMMPfam_Basic,HMMSmart_BASIC" "HMMPfam_Basic,HMMSmart_BASIC,superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors IGSF22 283284 genome.wustl.edu 36 11 18687509 18687509 + Splice_Site SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 18687509 18687509 C T SNP IGSF22 NM_173588 human genbank 54_36p -1 validated splice_site c.2695+1 e16+1 1 - - - no_errors IGSF22 283284 genome.wustl.edu 36 11 18693664 18693664 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 18693664 18693664 C G SNP IGSF22 NM_173588 human genbank 54_36p -1 validated missense c.1422 p.E474D 0.99 "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG" "superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors IGSF22 283284 genome.wustl.edu 36 11 18699666 18699666 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 18699666 18699666 C G SNP IGSF22 NM_173588 human genbank 54_36p -1 validated missense c.370 p.V124L 0.99 "HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726" "HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726" - no_errors PTPN5 84867 genome.wustl.edu 36 11 18707988 18707988 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 18707988 18707988 A T SNP PTPN5 ENST00000396166 human ensembl 54_36p -1 known missense c.101 p.L34Q 0 HMMSmart_PTPc "HMMSmart_PTPc,HMMPfam_Y_phosphatase,superfamily_SSF52799,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPN5 84867 genome.wustl.edu 36 11 18716018 18716018 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 18716018 18716018 T C SNP PTPN5 NM_006906 human genbank 54_36p -1 validated missense c.985 p.K329E 1 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase" "superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors NAV2 89797 genome.wustl.edu 36 11 20075774 20075774 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 20075774 20075774 G C SNP NAV2 NM_182964 human genbank 54_36p 1 validated missense c.6265 p.E2089Q 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" - no_errors DBX1 120237 genome.wustl.edu 36 11 20138083 20138083 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 20138083 20138083 T C SNP DBX1 NM_001029865 human genbank 54_36p -1 inferred missense c.364 p.T122A 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors LOC645490 645490 genome.wustl.edu 36 11 20552850 20552851 + Missense_Mutation DNP GG TC TC novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 GG GG TC TC GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 20552850 20552851 GG TC DNP LOC645490 XM_928515 human genbank 54_36p 1 model missense c.325_326 p.G109S 1.000:1.000 "superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" "HMMSmart_SM00398,superfamily_HMG-box,HMMPfam_HMG_box" - no_errors SLC17A6 57084 genome.wustl.edu 36 11 22337568 22337569 + Silent DNP CC CC AT novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 CC CC CC AT CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 22337568 22337569 CC AT DNP SLC17A6 NM_020346 human genbank 54_36p 1 validated silent c.492_493 p.STLN163 1.000:1.000 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors SLC17A6 57084 genome.wustl.edu 36 11 22354124 22354124 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 22354124 22354124 C A SNP SLC17A6 NM_020346 human genbank 54_36p 1 validated missense c.1195 p.L399M 0.93 "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" - no_errors SLC17A6 57084 genome.wustl.edu 36 11 22354787 22354787 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 22354787 22354787 A G SNP SLC17A6 NM_020346 human genbank 54_36p 1 validated missense c.1406 p.K469R 1 superfamily_MFS_gen_substrate_transporter "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" - no_errors TRPM5 29850 genome.wustl.edu 36 11 2389468 2389468 + Silent SNP G C C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 2389468 2389468 G C SNP TRPM5 NM_014555 human genbank 54_36p -1 validated silent c.2580 p.G860 0.99 HMMPfam_Ion_trans HMMPfam_Ion_trans - no_errors KCNQ1 3784 genome.wustl.edu 36 11 2561263 2561263 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 2561263 2561263 A T SNP KCNQ1 NM_000218 human genbank 54_36p 1 reviewed missense c.944 p.Y315F 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel" - no_errors SLC5A12 159963 genome.wustl.edu 36 11 26651643 26651643 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 26651643 26651643 C T SNP SLC5A12 NM_178498 human genbank 54_36p -1 validated missense c.1589 p.R530K 0 NULL HMMPfam_SSF - no_errors KIF18A 81930 genome.wustl.edu 36 11 28014590 28014590 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 28014590 28014590 T A SNP KIF18A NM_031217 human genbank 54_36p -1 validated missense c.2146 p.N716Y 0 NULL "HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1" - no_errors NAP1L4 4676 genome.wustl.edu 36 11 2937577 2937577 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 2937577 2937577 C T SNP NAP1L4 NM_005969 human genbank 54_36p -1 reviewed missense c.745 p.G249R 1 HMMPfam_NAP HMMPfam_NAP - no_errors CARS 833 genome.wustl.edu 36 11 2995080 2995080 + Silent SNP T T A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 2995080 2995080 T A SNP CARS NM_001014437 human genbank 54_36p -1 reviewed silent c.1749 p.A583 0.86 NULL "superfamily_SSF52374,HMMPfam_tRNA-synt_1e" - no_errors KCNA4 3739 genome.wustl.edu 36 11 29989393 29989393 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 29989393 29989393 G T SNP KCNA4 NM_002233 human genbank 54_36p -1 reviewed missense c.1409 p.T470N 1 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "HMMPfam_K_channel_TID,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors CARS 833 genome.wustl.edu 36 11 3004584 3004584 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 3004584 3004584 C G SNP CARS NM_001014437 human genbank 54_36p -1 reviewed missense c.1051 p.V351L 1 "HMMPfam_tRNA-synt_1e,superfamily_SSF52374" "HMMPfam_tRNA-synt_1e,superfamily_SSF52374" - no_errors FSHB 2488 genome.wustl.edu 36 11 30211747 30211747 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 30211747 30211747 A G SNP FSHB NM_000510 human genbank 54_36p 1 reviewed missense c.214 p.K72E 1 "HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501" "HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501,PatternScan_GLYCO_HORMONE_BETA_1,PatternScan_GLYCO_HORMONE_BETA_2" - no_errors FSHB 2488 genome.wustl.edu 36 11 30211794 30211794 + Silent SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 30211794 30211794 T C SNP FSHB NM_000510 human genbank 54_36p 1 reviewed silent c.261 p.H87 0.19 "HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501" "HMMSmart_GHB,HMMPfam_Cys_knot,PatternScan_GLYCO_HORMONE_BETA_1,PatternScan_GLYCO_HORMONE_BETA_2,superfamily_SSF57501" - no_errors CCDC73 493860 genome.wustl.edu 36 11 32592805 32592805 + Silent SNP T T G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 32592805 32592805 T G SNP CCDC73 NM_001008391 human genbank 54_36p -1 validated silent c.1635 p.I545 0.58 NULL NULL - no_errors QSER1 79832 genome.wustl.edu 36 11 32954531 32954531 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 32954531 32954531 T C SNP QSER1 NM_001076786 human genbank 54_36p 1 provisional missense c.5143 p.W1715R 1 NULL NULL - no_errors HIPK3 10114 genome.wustl.edu 36 11 33315267 33315268 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 GA GA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 33315267 33315268 GA TT DNP HIPK3 NM_005734 human genbank 54_36p 1 validated missense c.1292_1293 p.R431I 1.000:1.000 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors CAPRIN1 4076 genome.wustl.edu 36 11 34054722 34054722 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 34054722 34054722 G T SNP CAPRIN1 NM_005898 human genbank 54_36p 1 validated missense c.645 p.W215C 1 NULL NULL - no_errors CAT 847 genome.wustl.edu 36 11 34427407 34427407 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 34427407 34427407 G A SNP CAT NM_001752 human genbank 54_36p 1 validated silent c.159 p.Q53 1 "superfamily_Catalase_N,HMMPfam_Catalase" "superfamily_Catalase_N,HMMPfam_Catalase,PatternScan_CATALASE_2,PatternScan_CATALASE_1,HMMPfam_Catalase-rel" - no_errors SLC1A2 6506 genome.wustl.edu 36 11 35265049 35265055 + Frame_Shift_Del DEL GAAAGGT GAAAGGT - novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 GAAAGGT GAAAGGT GAAAGGT - GAAAGGT GAAAGGT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 35265049 35265055 GAAAGGT - DEL SLC1A2 NM_004171 human genbank 54_36p -1 reviewed frame_shift_del c.1117_1111 p.T371fs 1.000:1.000:1.000:1.000:0.998:1.000:1.000 HMMPfam_SDF "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" "(deletion:cds_exon[35264880,35265074])" no_errors SLC1A2 6506 genome.wustl.edu 36 11 35290516 35290516 + Silent SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 35290516 35290516 C A SNP SLC1A2 NM_004171 human genbank 54_36p -1 reviewed silent c.366 p.V122 1 HMMPfam_SDF "HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2" - no_errors PAMR1 25891 genome.wustl.edu 36 11 35410599 35410599 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 35410599 35410599 G A SNP DKFZP586H2123 NM_015430 human genbank 54_36p -1 validated missense c.2095 p.R699C 0.08 "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" "HMMSmart_EGF,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,superfamily_SSF57196,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin" - no_errors PAMR1 25891 genome.wustl.edu 36 11 35452801 35452801 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 35452801 35452801 G C SNP DKFZP586H2123 NM_015430 human genbank 54_36p -1 validated missense c.447 p.H149Q 1 "HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB" "HMMPfam_Sushi,HMMSmart_CCP,HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB,HMMPfam_Trypsin,HMMSmart_Tryp_SPc,HMMPfam_EGF,HMMSmart_EGF,superfamily_Pept_Ser_Cys,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,superfamily_SSF57196" - no_errors PRR5L 79899 genome.wustl.edu 36 11 36397401 36397401 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 36397401 36397401 T A SNP FLJ14213 NM_024841 human genbank 54_36p 1 provisional missense c.266 p.L89H 1 HMMPfam_HbrB HMMPfam_HbrB - no_errors LRRC4C 57689 genome.wustl.edu 36 11 40092681 40092681 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 40092681 40092681 G C SNP LRRC4C NM_020929 human genbank 54_36p -1 validated missense c.1738 p.P580A 1 NULL "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406" - no_errors LRRC4C 57689 genome.wustl.edu 36 11 40092829 40092829 + Silent SNP A A T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 40092829 40092829 A T SNP LRRC4C NM_020929 human genbank 54_36p -1 validated silent c.1590 p.I530 1 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors LRRC4C 57689 genome.wustl.edu 36 11 40094160 40094160 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 40094160 40094160 G C SNP LRRC4C NM_020929 human genbank 54_36p -1 validated missense c.259 p.Q87E 1 "HMMSmart_SM00369,superfamily_L domain-like" "HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like" - no_errors TTC17 55761 genome.wustl.edu 36 11 43422283 43422283 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 43422283 43422283 C G SNP TTC17 NM_018259 human genbank 54_36p 1 provisional nonsense c.2613 p.Y871* 0.95 superfamily_SSF48452 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" - no_errors TRIM21 6737 genome.wustl.edu 36 11 4363210 4363210 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4363210 4363210 C T SNP TRIM21 NM_003141 human genbank 54_36p -1 reviewed missense c.1309 p.A437T 0.45 "HMMPfam_SPRY,HMMSmart_SPRY" "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY" - no_errors TRIM21 6737 genome.wustl.edu 36 11 4366267 4366267 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4366267 4366267 C G SNP TRIM21 NM_003141 human genbank 54_36p -1 reviewed missense c.574 p.E192Q 0.98 NULL "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,HMMPfam_SPRY,HMMSmart_PRY,PatternScan_ZF_RING_1,HMMSmart_SPRY,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors TP53I11 9537 genome.wustl.edu 36 11 44913053 44913053 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 44913053 44913053 A C SNP TP53I11 NM_001076787 human genbank 54_36p -1 validated missense c.528 p.I176M 1 NULL NULL - no_errors SYT13 57586 genome.wustl.edu 36 11 45230638 45230638 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 45230638 45230638 G C SNP SYT13 NM_020826 human genbank 54_36p -1 validated missense c.756 p.H252Q 0.99 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00239" - no_errors C11orf40 143501 genome.wustl.edu 36 11 4551264 4551264 + Silent SNP A A G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4551264 4551264 A G SNP C11orf40 NM_144663 human genbank 54_36p -1 predicted silent c.156 p.N52 0 NULL NULL - no_errors PEX16 9409 genome.wustl.edu 36 11 45892454 45892454 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 45892454 45892454 G A SNP PEX16 NM_057174 human genbank 54_36p -1 reviewed missense c.683 p.P228L 1 HMMPfam_Pex16 HMMPfam_Pex16 - no_errors GYLTL1B 120071 genome.wustl.edu 36 11 45904852 45904852 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 45904852 45904852 G A SNP GYLTL1B NM_152312 human genbank 54_36p 1 validated silent c.1179 p.L393 1 NULL "superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8" - no_errors CREB3L1 90993 genome.wustl.edu 36 11 46289268 46289268 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 46289268 46289268 G A SNP CREB3L1 ENST00000288400 human ensembl 54_36p 1 known silent c.705 p.A235 0.67 NULL "superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC" - no_errors CREB3L1 90993 genome.wustl.edu 36 11 46294513 46294513 + Splice_Site SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 46294513 46294513 G T SNP CREB3L1 ENST00000288400 human ensembl 54_36p 1 known splice_site c.1131+1 e9+1 1 - - - no_errors OR51E2 81285 genome.wustl.edu 36 11 4659616 4659616 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4659616 4659616 C A SNP OR51E2 NM_030774 human genbank 54_36p -1 validated missense c.902 p.R301L 0.14 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors F2 2147 genome.wustl.edu 36 11 46704017 46704017 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 46704017 46704017 C T SNP F2 NM_000506 human genbank 54_36p 1 reviewed missense c.592 p.R198C 0.02 superfamily_Kringle-like ############################################################################################################################################################################################################################################################### - no_errors CKAP5 9793 genome.wustl.edu 36 11 46775067 46775067 + Splice_Site SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 46775067 46775067 C T SNP CKAP5 NM_001008938 human genbank 54_36p -1 validated splice_site c.1339-1 e11-1 1 - - - no_errors ACP2 53 genome.wustl.edu 36 11 47223461 47223461 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47223461 47223461 A G SNP ACP2 NM_001610 human genbank 54_36p -1 reviewed missense c.610 p.W204R 1 "HMMPfam_Acid_phosphat_A,superfamily_SSF53254" "HMMPfam_Acid_phosphat_A,superfamily_SSF53254,PatternScan_HIS_ACID_PHOSPHAT_1,PatternScan_HIS_ACID_PHOSPHAT_2" - no_errors NR1H3 10062 genome.wustl.edu 36 11 47246815 47246815 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47246815 47246815 C T SNP NR1H3 NM_005693 human genbank 54_36p 1 validated missense c.1336 p.H446Y 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MADD 8567 genome.wustl.edu 36 11 47267100 47267100 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47267100 47267100 G A SNP MADD NM_003682 human genbank 54_36p 1 reviewed missense c.2659 p.G887R 1 NULL "HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMSmart_SM00801,HMMPfam_dDENN" - no_errors MADD 8567 genome.wustl.edu 36 11 47289962 47289962 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47289962 47289962 C T SNP MADD NM_003682 human genbank 54_36p 1 reviewed missense c.4262 p.A1421V 0.92 NULL "HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800" - no_errors PSMC3 5702 genome.wustl.edu 36 11 47398461 47398461 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47398461 47398461 C A SNP PSMC3 NM_002804 human genbank 54_36p -1 reviewed nonsense c.1057 p.E353* 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors PSMC3 5702 genome.wustl.edu 36 11 47401073 47401073 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47401073 47401073 T G SNP PSMC3 NM_002804 human genbank 54_36p -1 reviewed missense c.619 p.N207H 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PSMC3 5702 genome.wustl.edu 36 11 47402214 47402214 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47402214 47402214 G A SNP PSMC3 NM_002804 human genbank 54_36p -1 reviewed nonsense c.550 p.Q184* 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors CELF1 10658 genome.wustl.edu 36 11 47464899 47464899 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47464899 47464899 C G SNP CUGBP1 NM_001025596 human genbank 54_36p -1 reviewed missense c.289 p.A97P 1 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors KBTBD4 55709 genome.wustl.edu 36 11 47553810 47553810 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47553810 47553810 G T SNP KBTBD4 NM_016506 human genbank 54_36p -1 validated missense c.607 p.Q203K 1 HMMPfam_BACK "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,HMMPfam_Kelch_2,superfamily_Gal_oxid_central,HMMPfam_Kelch_1" - no_errors AGBL2 79841 genome.wustl.edu 36 11 47638436 47638436 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47638436 47638436 C G SNP AGBL2 NM_024783 human genbank 54_36p -1 validated missense c.2574 p.K858N 0.08 NULL "superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14" - no_errors NUP160 23279 genome.wustl.edu 36 11 47786597 47786597 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47786597 47786597 G A SNP NUP160 NM_015231 human genbank 54_36p -1 validated missense c.2302 p.P768S 0.98 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors NUP160 23279 genome.wustl.edu 36 11 47826422 47826422 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 47826422 47826422 G A SNP NUP160 NM_015231 human genbank 54_36p -1 validated missense c.127 p.R43W 0.57 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors OR4S1 256148 genome.wustl.edu 36 11 48285216 48285216 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 48285216 48285216 A T SNP OR4S1 NM_001004725 human genbank 54_36p 1 provisional missense c.866 p.N289I 0.33 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51T1 401665 genome.wustl.edu 36 11 4860452 4860452 + Silent SNP A A C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4860452 4860452 A C SNP OR51T1 NM_001004759 human genbank 54_36p 1 provisional silent c.828 p.A276 0.24 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51A7 119687 genome.wustl.edu 36 11 4885418 4885418 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4885418 4885418 G A SNP OR51A7 NM_001004749 human genbank 54_36p 1 provisional missense c.243 p.M81I 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LOC120824 120824 genome.wustl.edu 36 11 48953697 48953697 + Silent SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 48953697 48953697 G A SNP LOC120824 XM_062300 human genbank 54_36p -1 model silent c.1288 p.L430 0.71 HMMPfam_SPRY "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY" - no_errors LOC340970 340970 genome.wustl.edu 36 11 48963952 48963952 + RNA SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 48963952 48963952 A G SNP LOC340970 XR_042351 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC340970 340970 genome.wustl.edu 36 11 48965650 48965650 + RNA SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 48965650 48965650 G T SNP LOC340970 XR_042351 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC283116 283116 genome.wustl.edu 36 11 49009893 49009893 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49009893 49009893 A C SNP LOC283116 XM_208043 human genbank 54_36p 1 model missense c.166 p.T56P 0.65 superfamily_SSF57850 "PatternScan_ZF_RING_1,superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMPfam_SPRY" - no_errors OR51G1 79324 genome.wustl.edu 36 11 4901325 4901325 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4901325 4901325 A G SNP OR51G1 NM_001005237 human genbank 54_36p -1 provisional missense c.821 p.V274A 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors LOC283116 283116 genome.wustl.edu 36 11 49016060 49016060 + Silent SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49016060 49016060 T C SNP LOC283116 XM_208043 human genbank 54_36p 1 model silent c.1314 p.S438 0.09 HMMPfam_SPRY "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,HMMPfam_SPRY,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors OR51A4 401666 genome.wustl.edu 36 11 4924258 4924258 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4924258 4924258 C A SNP OR51A4 NM_001005329 human genbank 54_36p -1 provisional missense c.649 p.V217L 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR51A4 401666 genome.wustl.edu 36 11 4924365 4924365 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 4924365 4924365 C T SNP OR51A4 NM_001005329 human genbank 54_36p -1 provisional missense c.542 p.C181Y 0.99 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LOC729960 729960 genome.wustl.edu 36 11 49348473 49348473 + RNA SNP T T A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49348473 49348473 T A SNP LOC729960 XR_016034 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC387770 387770 genome.wustl.edu 36 11 49850158 49850158 + RNA SNP A A T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49850158 49850158 A T SNP LOC387770 XR_017307 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene OR4C12 283093 genome.wustl.edu 36 11 49960414 49960414 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 49960414 49960414 A G SNP OR4C12 NM_001005270 human genbank 54_36p -1 provisional missense c.200 p.I67T 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR52A1 23538 genome.wustl.edu 36 11 5129570 5129570 + Silent SNP A A G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 5129570 5129570 A G SNP OR52A1 NM_012375 human genbank 54_36p -1 validated silent c.606 p.G202 0.03 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4C46 119749 genome.wustl.edu 36 11 51372438 51372438 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 51372438 51372438 A T SNP OR4C46 NM_001004703 human genbank 54_36p 1 provisional missense c.581 p.E194V 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR51B2 79345 genome.wustl.edu 36 11 5301582 5301582 + Silent SNP A A C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5301582 5301582 A C SNP OR51B2 NM_033180 human genbank 54_36p -1 validated silent c.522 p.R174 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR51I2 390064 genome.wustl.edu 36 11 5432027 5432027 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5432027 5432027 A G SNP OR51I2 NM_001004754 human genbank 54_36p 1 provisional missense c.733 p.I245V 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors UBQLN3 50613 genome.wustl.edu 36 11 5486713 5486713 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5486713 5486713 G A SNP UBQLN3 NM_017481 human genbank 54_36p -1 reviewed missense c.652 p.R218W 1 HMMSmart_STI1 "PatternScan_UBIQUITIN_1,superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin,HMMSmart_STI1,superfamily_UBA_like,HMMSmart_UBA,HMMPfam_UBA" - no_errors OR4C16 219428 genome.wustl.edu 36 11 55096435 55096435 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55096435 55096435 A T SNP OR4C16 NM_001004701 human genbank 54_36p 1 validated nonsense c.256 p.K86* 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR52H1 390067 genome.wustl.edu 36 11 5523114 5523114 + Silent SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5523114 5523114 G C SNP OR52H1 NM_001005289 human genbank 54_36p -1 provisional silent c.216 p.S72 0.96 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR5D14 219436 genome.wustl.edu 36 11 55319848 55319848 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55319848 55319848 C A SNP OR5D14 NM_001004735 human genbank 54_36p 1 provisional missense c.241 p.P81T 0.64 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5D18 219438 genome.wustl.edu 36 11 55343867 55343867 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55343867 55343867 T G SNP OR5D18 NM_001001952 human genbank 54_36p 1 provisional missense c.186 p.F62L 0.96 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5D16 390144 genome.wustl.edu 36 11 55362906 55362906 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55362906 55362906 G C SNP OR5D16 NM_001005496 human genbank 54_36p 1 provisional missense c.103 p.A35P 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5D16 390144 genome.wustl.edu 36 11 55363647 55363647 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55363647 55363647 G A SNP OR5D16 NM_001005496 human genbank 54_36p 1 provisional missense c.844 p.V282M 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors SPRYD5 84767 genome.wustl.edu 36 11 55409881 55409881 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55409881 55409881 A T SNP SPRYD5 ENST00000327733 human ensembl 54_36p 1 known missense c.422 p.E141V 0.95 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY" - no_start_codon OR5I1 10798 genome.wustl.edu 36 11 55459861 55459861 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55459861 55459861 C T SNP OR5I1 NM_006637 human genbank 54_36p -1 reviewed missense c.592 p.E198K 0.8 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5I1 10798 genome.wustl.edu 36 11 55460276 55460276 + Silent SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 55460276 55460276 G A SNP OR5I1 NM_006637 human genbank 54_36p -1 reviewed silent c.177 p.T59 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR10AG1 282770 genome.wustl.edu 36 11 55491934 55491934 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 55491934 55491934 C T SNP OR10AG1 NM_001005491 human genbank 54_36p -1 provisional silent c.582 p.A194 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5AS1 219447 genome.wustl.edu 36 11 55555264 55555264 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55555264 55555264 G C SNP OR5AS1 NM_001001921 human genbank 54_36p 1 provisional missense c.794 p.S265T 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5AS1 219447 genome.wustl.edu 36 11 55555307 55555307 + Silent SNP T T G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55555307 55555307 T G SNP OR5AS1 NM_001001921 human genbank 54_36p 1 provisional silent c.837 p.T279 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR8H2 390151 genome.wustl.edu 36 11 55629539 55629539 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55629539 55629539 T G SNP OR8H2 NM_001005200 human genbank 54_36p 1 provisional missense c.445 p.Y149D 0.4 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR8H3 390152 genome.wustl.edu 36 11 55646944 55646944 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55646944 55646944 A T SNP OR8H3 NM_001005201 human genbank 54_36p 1 provisional missense c.520 p.I174F 0.52 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5T2 219464 genome.wustl.edu 36 11 55756971 55756971 + Silent SNP A A G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55756971 55756971 A G SNP OR5T2 NM_001004746 human genbank 54_36p -1 provisional silent c.267 p.I89 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5T1 390155 genome.wustl.edu 36 11 55800327 55800327 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55800327 55800327 T C SNP OR5T1 NM_001004745 human genbank 54_36p 1 provisional missense c.637 p.Y213H 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8K3 219473 genome.wustl.edu 36 11 55842832 55842832 + Silent SNP A A T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55842832 55842832 A T SNP OR8K3 NM_001005202 human genbank 54_36p 1 provisional silent c.474 p.L158 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR8J1 219477 genome.wustl.edu 36 11 55884585 55884585 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55884585 55884585 A C SNP OR8J1 NM_001005205 human genbank 54_36p 1 provisional missense c.287 p.E96A 0.95 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8U1 219417 genome.wustl.edu 36 11 55899806 55899806 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55899806 55899806 G A SNP OR8U1 NM_001005204 human genbank 54_36p 1 provisional missense c.131 p.G44D 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR8U1 219417 genome.wustl.edu 36 11 55899999 55899999 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55899999 55899999 G T SNP OR8U1 NM_001005204 human genbank 54_36p 1 provisional missense c.324 p.M108I 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR8U1 219417 genome.wustl.edu 36 11 55900385 55900385 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55900385 55900385 C A SNP OR8U1 NM_001005204 human genbank 54_36p 1 provisional missense c.710 p.A237D 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5R1 219479 genome.wustl.edu 36 11 55941420 55941420 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55941420 55941420 T A SNP OR5R1 NM_001004744 human genbank 54_36p -1 provisional missense c.865 p.I289F 0.91 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5M3 219482 genome.wustl.edu 36 11 55994078 55994078 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 55994078 55994078 T C SNP OR5M3 NM_001004742 human genbank 54_36p -1 provisional missense c.472 p.T158A 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5M1 390168 genome.wustl.edu 36 11 56136973 56136973 + Silent SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 56136973 56136973 G C SNP OR5M1 NM_001004740 human genbank 54_36p -1 provisional silent c.582 p.V194 0.01 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5M1 390168 genome.wustl.edu 36 11 56137236 56137236 + Silent SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 56137236 56137236 G A SNP OR5M1 NM_001004740 human genbank 54_36p -1 provisional silent c.319 p.L107 0.29 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5AK2 390181 genome.wustl.edu 36 11 56513550 56513550 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 56513550 56513550 A G SNP OR5AK2 NM_001005323 human genbank 54_36p 1 provisional missense c.586 p.I196V 0 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR5AK2 390181 genome.wustl.edu 36 11 56513893 56513893 + Nonstop_Mutation SNP A A C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 56513893 56513893 A C SNP OR5AK2 NM_001005323 human genbank 54_36p 1 provisional nonstop c.929 p.*310S 0 NULL "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors SMTNL1 219537 genome.wustl.edu 36 11 57067040 57067040 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57067040 57067040 G T SNP SMTNL1 NM_001105565 human genbank 54_36p 1 provisional nonsense c.403 p.E135* 0.12 NULL "HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain" - no_errors CTNND1 1500 genome.wustl.edu 36 11 57329980 57329980 + Silent SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57329980 57329980 C T SNP CTNND1 NM_001085458 human genbank 54_36p 1 validated silent c.1773 p.H591 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185" - no_errors OR9Q2 219957 genome.wustl.edu 36 11 57714852 57714852 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57714852 57714852 C A SNP OR9Q2 NM_001005283 human genbank 54_36p 1 provisional missense c.314 p.T105N 0.34 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10Q1 219960 genome.wustl.edu 36 11 57752201 57752201 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57752201 57752201 C T SNP OR10Q1 NM_001004471 human genbank 54_36p -1 provisional silent c.723 p.R241 0.42 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10Q1 219960 genome.wustl.edu 36 11 57752498 57752498 + Silent SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57752498 57752498 G A SNP OR10Q1 NM_001004471 human genbank 54_36p -1 provisional silent c.426 p.R142 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5B2 390190 genome.wustl.edu 36 11 57946621 57946621 + Silent SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 57946621 57946621 C T SNP OR5B2 NM_001005566 human genbank 54_36p -1 provisional silent c.690 p.K230 0.01 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5B21 219968 genome.wustl.edu 36 11 58031608 58031608 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58031608 58031608 G C SNP OR5B21 NM_001005218 human genbank 54_36p -1 provisional missense c.547 p.L183V 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR5B21 219968 genome.wustl.edu 36 11 58031744 58031744 + Silent SNP A A G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58031744 58031744 A G SNP OR5B21 NM_001005218 human genbank 54_36p -1 provisional silent c.411 p.G137 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR5B21 219968 genome.wustl.edu 36 11 58031919 58031919 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58031919 58031919 G A SNP OR5B21 NM_001005218 human genbank 54_36p -1 provisional missense c.236 p.T79M 0 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors GLYATL2 219970 genome.wustl.edu 36 11 58361162 58361162 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58361162 58361162 A T SNP GLYATL2 NM_145016 human genbank 54_36p -1 validated missense c.378 p.D126E 0 "HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat)" "HMMPfam_Gly_acyl_tr_C,HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat)" - no_errors GLYATL1 92292 genome.wustl.edu 36 11 58467706 58467706 + Silent SNP A A C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58467706 58467706 A C SNP GLYATL1 NM_080661 human genbank 54_36p 1 provisional silent c.139 p.R47 0 HMMPfam_Gly_acyl_tr_N "HMMPfam_Gly_acyl_tr_N,superfamily_Acyl_CoA_acyltransferase,HMMPfam_Gly_acyl_tr_C" - no_errors OR52E4 390081 genome.wustl.edu 36 11 5862102 5862102 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 5862102 5862102 C T SNP OR52E4 NM_001005165 human genbank 54_36p 1 provisional missense c.4 p.P2S 0.17 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors FAM111B 374393 genome.wustl.edu 36 11 58649138 58649138 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58649138 58649138 G A SNP FAM111B NM_198947 human genbank 54_36p 1 validated missense c.992 p.S331N 0 NULL superfamily_Trypsin-like serine proteases - no_errors FAM111A 63901 genome.wustl.edu 36 11 58676814 58676814 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58676814 58676814 C G SNP FAM111A NM_022074 human genbank 54_36p 1 validated missense c.1097 p.T366S 0.03 superfamily_Pept_Ser_Cys superfamily_Pept_Ser_Cys - no_errors FAM111A 63901 genome.wustl.edu 36 11 58676910 58676910 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58676910 58676910 G C SNP FAM111A NM_022074 human genbank 54_36p 1 validated missense c.1193 p.S398T 0 superfamily_Pept_Ser_Cys superfamily_Pept_Ser_Cys - no_errors MPEG1 219972 genome.wustl.edu 36 11 58735419 58735419 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 58735419 58735419 G C SNP MPEG1 NM_001039396 human genbank 54_36p -1 validated missense c.1496 p.A499G 0.17 NULL "PatternScan_MAC_PERFORIN,HMMPfam_MACPF,HMMSmart_MACPF" - no_errors OR4D6 219983 genome.wustl.edu 36 11 58981869 58981869 + Missense_Mutation SNP A A C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 58981869 58981869 A C SNP OR4D6 NM_001004708 human genbank 54_36p 1 provisional missense c.860 p.Y287S 0.99 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4D10 390197 genome.wustl.edu 36 11 59001705 59001705 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59001705 59001705 T C SNP OR4D10 NM_001004705 human genbank 54_36p 1 provisional missense c.227 p.I76T 0.97 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4D11 219986 genome.wustl.edu 36 11 59028161 59028161 + Silent SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59028161 59028161 C T SNP OR4D11 NM_001004706 human genbank 54_36p 1 provisional silent c.537 p.C179 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors PATL1 219988 genome.wustl.edu 36 11 59179634 59179634 + Silent SNP G G C novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59179634 59179634 G C SNP PATL1 NM_152716 human genbank 54_36p -1 validated silent c.540 p.P180 0.91 HMMPfam_PAT1 HMMPfam_PAT1 - no_errors STX3 6809 genome.wustl.edu 36 11 59317198 59317198 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59317198 59317198 A G SNP STX3 NM_004177 human genbank 54_36p 1 provisional missense c.517 p.N173D 1 superfamily_t-snare proteins "HMMSmart_SM00503,superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN" - no_errors GIF 2694 genome.wustl.edu 36 11 59366546 59366546 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59366546 59366546 T A SNP GIF NM_005142 human genbank 54_36p -1 reviewed missense c.457 p.I153L 0.01 HMMPfam_Cobalamin_bind "HMMPfam_Cobalamin_bind,PatternScan_COBALAMIN_BINDING" - no_errors PLAC1L 219990 genome.wustl.edu 36 11 59567597 59567597 + Silent SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59567597 59567597 G A SNP PLAC1L NM_173801 human genbank 54_36p 1 provisional silent c.144 p.A48 0.52 NULL NULL - no_errors MS4A2 2206 genome.wustl.edu 36 11 59619683 59619683 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59619683 59619683 T C SNP MS4A2 NM_000139 human genbank 54_36p 1 reviewed missense c.713 p.M238T 0 NULL HMMPfam_CD20 - no_errors LOC643680 643680 genome.wustl.edu 36 11 59753973 59753973 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59753973 59753973 G A SNP LOC643680 XM_931901 human genbank 54_36p -1 model missense c.59 p.P20L 0.47 NULL HMMPfam_CD20 - no_errors MS4A7 58475 genome.wustl.edu 36 11 59917859 59917859 + Silent SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59917859 59917859 A T SNP MS4A7 NM_021201 human genbank 54_36p 1 reviewed silent c.672 p.S224 0.01 NULL HMMPfam_CD20 - no_errors MS4A1 931 genome.wustl.edu 36 11 59986428 59986428 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59986428 59986428 C A SNP MS4A1 NM_021950 human genbank 54_36p 1 reviewed missense c.5 p.T2K 0.98 NULL HMMPfam_CD20 - no_errors MS4A1 931 genome.wustl.edu 36 11 59987071 59987071 + Silent SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 59987071 59987071 G T SNP MS4A1 NM_021950 human genbank 54_36p 1 reviewed silent c.180 p.G60 1 HMMPfam_CD20 HMMPfam_CD20 - no_errors OR56A1 120796 genome.wustl.edu 36 11 6005123 6005123 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6005123 6005123 A C SNP OR56A1 NM_001001917 human genbank 54_36p -1 provisional missense c.388 p.Y130D 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors MS4A15 219995 genome.wustl.edu 36 11 60287962 60287962 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60287962 60287962 G T SNP MS4A15 NM_001098835 human genbank 54_36p 1 validated missense c.180 p.L60F 0 NULL "HMMPfam_CD20,PatternScan_IG_MHC" - no_errors MS4A10 341116 genome.wustl.edu 36 11 60316331 60316331 + Silent SNP C A A novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60316331 60316331 C A SNP MS4A10 NM_206893 human genbank 54_36p 1 validated silent c.321 p.I107 0.15 HMMPfam_CD20 HMMPfam_CD20 - no_errors GPR44 11251 genome.wustl.edu 36 11 60377379 60377379 + Silent SNP C C A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60377379 60377379 C A SNP GPR44 NM_004778 human genbank 54_36p -1 validated silent c.393 p.L131 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors PGA3 643834 genome.wustl.edu 36 11 60728299 60728299 + Silent SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60728299 60728299 C A SNP PGA3 NM_001079807 human genbank 54_36p 1 validated silent c.201 p.P67 0.19 superfamily_Acid proteases "superfamily_Acid proteases,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE" - no_errors VWCE 220001 genome.wustl.edu 36 11 60798568 60798568 + Silent SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60798568 60798568 C T SNP VWCE NM_152718 human genbank 54_36p -1 validated silent c.1560 p.E520 0.96 "HMMSmart_SM00215,HMMPfam_VWC,HMMSmart_SM00214" ############################################################################################################################################################################################################################################################### - no_errors DDB1 1642 genome.wustl.edu 36 11 60835831 60835832 + Splice_Site DNP CC CC AA novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 CC CC CC AA CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60835831 60835832 CC AA DNP DDB1 NM_001923 human genbank 54_36p -1 validated splice_site c.2277+2_2277+1 e19-1 1.000:1.000 - - - no_errors SDHAF2 54949 genome.wustl.edu 36 11 60962141 60962141 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 60962141 60962141 A G SNP C11orf79 NM_017841 human genbank 54_36p 1 predicted missense c.350 p.D117G 1 "superfamily_DUF339,HMMPfam_DUF339" "superfamily_DUF339,HMMPfam_DUF339" - no_errors C11orf66 220004 genome.wustl.edu 36 11 61011203 61011203 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61011203 61011203 G C SNP C11orf66 NM_145017 human genbank 54_36p 1 provisional missense c.958 p.G320R 1 NULL NULL - no_errors RPLP0P2 113157 genome.wustl.edu 36 11 61161394 61161394 + RNA SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61161394 61161394 G A SNP RPLP0P2 NR_002775 human genbank 54_36p 1 inferred rna NULL NULL 1 - - - pseudogene DAGLA 747 genome.wustl.edu 36 11 61265376 61265376 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61265376 61265376 A C SNP DAGLA NM_006133 human genbank 54_36p 1 validated missense c.2150 p.D717A 0.99 NULL "superfamily_SSF53474,HMMPfam_Lipase_3,PatternScan_LIPASE_SER" - no_errors DAGLA 747 genome.wustl.edu 36 11 61267804 61267804 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61267804 61267804 G C SNP DAGLA NM_006133 human genbank 54_36p 1 validated missense c.2396 p.G799A 1 NULL "HMMPfam_Lipase_3,PatternScan_LIPASE_SER,superfamily_SSF53474" - no_errors FEN1 2237 genome.wustl.edu 36 11 61320362 61320362 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61320362 61320362 A T SNP FEN1 NM_004111 human genbank 54_36p 1 reviewed missense c.953 p.E318V 1 superfamily_5' to 3' exonuclease C-terminal subdomain "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors SCGB2A2 4250 genome.wustl.edu 36 11 61794293 61794293 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 61794293 61794293 C T SNP SCGB2A2 NM_002411 human genbank 54_36p 1 provisional missense c.29 p.A10V 0.01 HMMPfam_Uteroglobin "HMMPfam_Uteroglobin,superfamily_Uteroglobin-like" - no_errors C11orf42 160298 genome.wustl.edu 36 11 6188395 6188395 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6188395 6188395 C A SNP C11orf42 NM_173525 human genbank 54_36p 1 predicted missense c.812 p.P271H 0.99 NULL NULL - no_errors FAM160A2 84067 genome.wustl.edu 36 11 6195620 6195620 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 6195620 6195620 C T SNP FAM160A2 NM_032127 human genbank 54_36p -1 validated missense c.1814 p.R605Q 1 NULL HMMPfam_RAI16-like - no_errors AHNAK 79026 genome.wustl.edu 36 11 62041703 62041703 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62041703 62041703 A C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.16762 p.L5588V 0 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 genome.wustl.edu 36 11 62050359 62050359 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62050359 62050359 G C SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.8106 p.I2702M 0.4 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors AHNAK 79026 genome.wustl.edu 36 11 62052072 62052072 + Silent SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 62052072 62052072 G C SNP AHNAK NM_001620 human genbank 54_36p -1 validated silent c.6393 p.V2131 0.69 NULL "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_CheC" - no_errors EEF1G 1937 genome.wustl.edu 36 11 62097881 62097881 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 62097881 62097881 C A SNP EEF1G NM_001404 human genbank 54_36p -1 reviewed missense c.10 p.G4W 1 "HMMPfam_GST_N,superfamily_Thioredoxin-like" "HMMPfam_GST_N,superfamily_Thioredoxin-like,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C,HMMPfam_EF1G,superfamily_eEF1-gamma domain" - no_errors ROM1 6094 genome.wustl.edu 36 11 62137886 62137886 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62137886 62137886 G A SNP ROM1 NM_000327 human genbank 54_36p 1 reviewed missense c.557 p.R186H 1 "HMMPfam_Tetraspannin,superfamily_Tetraspanin" "HMMPfam_Tetraspannin,superfamily_Tetraspanin,PatternScan_RDS_ROM1" - no_errors GANAB 23193 genome.wustl.edu 36 11 62163677 62163677 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62163677 62163677 G A SNP GANAB NM_198335 human genbank 54_36p -1 validated silent c.141 p.C47 1 NULL "HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2" - no_errors TTC9C 283237 genome.wustl.edu 36 11 62253040 62253040 + Silent SNP G G T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62253040 62253040 G T SNP TTC9C NM_173810 human genbank 54_36p 1 provisional silent c.144 p.P48 0 superfamily_TPR-like "HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1,HMMPfam_TPR_2" - no_errors CCKBR 887 genome.wustl.edu 36 11 6248984 6248984 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6248984 6248984 G C SNP CCKBR NM_176875 human genbank 54_36p 1 reviewed missense c.979 p.A327P 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SLC22A8 9376 genome.wustl.edu 36 11 62523831 62523831 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62523831 62523831 C G SNP SLC22A8 NM_004254 human genbank 54_36p -1 reviewed missense c.497 p.G166A 0 "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" "HMMPfam_MFS_1,superfamily_MFS general substrate transporter,PatternScan_SUGAR_TRANSPORT_1" - no_errors SLC22A25 387601 genome.wustl.edu 36 11 62688035 62688035 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62688035 62688035 C T SNP SLC22A25 NM_199352 human genbank 54_36p -1 validated missense c.1481 p.R494Q 0 superfamily_MFS general substrate transporter "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors SLC22A25 387601 genome.wustl.edu 36 11 62753695 62753695 + Silent SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 62753695 62753695 G A SNP SLC22A25 NM_199352 human genbank 54_36p -1 validated silent c.6 p.A2 0.92 NULL "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors LGALS12 85329 genome.wustl.edu 36 11 63039744 63039744 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63039744 63039744 C T SNP LGALS12 NM_033101 human genbank 54_36p 1 validated missense c.847 p.P283S 0.98 "HMMPfam_Gal-bind_lectin,superfamily_Concanavalin A-like lectins/glucanases" "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00276,HMMPfam_Gal-bind_lectin" - no_errors RARRES3 5920 genome.wustl.edu 36 11 63063575 63063575 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63063575 63063575 G T SNP RARRES3 NM_004585 human genbank 54_36p 1 validated missense c.21 p.E7D 0 NULL HMMPfam_NC - no_errors PLA2G16 11145 genome.wustl.edu 36 11 63114251 63114251 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63114251 63114251 C T SNP PLA2G16 NM_007069 human genbank 54_36p -1 validated missense c.284 p.R95Q 0.98 HMMPfam_NC HMMPfam_NC - no_errors RTN3 10313 genome.wustl.edu 36 11 63280187 63280187 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63280187 63280187 G A SNP RTN3 NM_201428 human genbank 54_36p 1 validated missense c.2965 p.A989T 0.66 HMMPfam_Reticulon HMMPfam_Reticulon - no_errors MARK2 2011 genome.wustl.edu 36 11 63423980 63423980 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63423980 63423980 G A SNP MARK2 NM_017490 human genbank 54_36p 1 reviewed missense c.491 p.S164N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMPfam_UBA,HMMSmart_SM00165,superfamily_Kinase associated domain 1 KA1,HMMPfam_KA1" - no_errors STIP1 10963 genome.wustl.edu 36 11 63718248 63718248 + Silent SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63718248 63718248 A G SNP STIP1 NM_006819 human genbank 54_36p 1 validated silent c.231 p.R77 0.77 "superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR" "HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,HMMSmart_STI1" - no_errors FERMT3 83706 genome.wustl.edu 36 11 63745130 63745130 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63745130 63745130 C T SNP FERMT3 NM_178443 human genbank 54_36p 1 validated missense c.1624 p.R542C 1 "HMMSmart_SM00295,HMMPfam_FERM_M,superfamily_Second domain of FERM,PatternScan_FERM_2" "HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like,PatternScan_FERM_2" - no_errors PLCB3 5331 genome.wustl.edu 36 11 63786536 63786536 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63786536 63786536 G A SNP PLCB3 NM_000932 human genbank 54_36p 1 provisional missense c.2120 p.R707Q 1 superfamily_PLC-like phosphodiesterases "superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C" - no_errors CCDC88B 283234 genome.wustl.edu 36 11 63868078 63868078 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63868078 63868078 G C SNP CCDC88B NM_032251 human genbank 54_36p 1 validated missense c.1489 p.V497L 0 NULL NULL - no_errors CCDC88B 283234 genome.wustl.edu 36 11 63876809 63876809 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63876809 63876809 C T SNP CCDC88B NM_032251 human genbank 54_36p 1 validated missense c.3374 p.A1125V 0.96 NULL NULL - no_errors CCDC88B 283234 genome.wustl.edu 36 11 63877766 63877766 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63877766 63877766 C G SNP CCDC88B NM_032251 human genbank 54_36p 1 validated missense c.3837 p.D1279E 1 NULL NULL - no_errors RPS6KA4 8986 genome.wustl.edu 36 11 63885946 63885946 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 63885946 63885946 G A SNP RPS6KA4 NM_003942 human genbank 54_36p 1 reviewed missense c.802 p.V268M 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ODR_DC_2_1,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C" - no_errors SLC22A11 55867 genome.wustl.edu 36 11 64080374 64080374 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64080374 64080374 C T SNP SLC22A11 NM_018484 human genbank 54_36p 1 reviewed silent c.327 p.D109 0.04 NULL "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC22A12 116085 genome.wustl.edu 36 11 64115725 64115747 + Frame_Shift_Del DEL TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG - novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG - TCGGCCGCCGTGCCCAGCCACCG TCGGCCGCCGTGCCCAGCCACCG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64115725 64115747 TCGGCCGCCGTGCCCAGCCACCG - DEL SLC22A12 NM_144585 human genbank 54_36p 1 reviewed frame_shift_del c.121_143 p.S41fs 0.998:0.996:0.987:0.993:0.953:0.668:0.677:0.636:0.570:0.906:0.968:0.970:0.997:0.994:0.765:0.719:0.719:0.758:0.997:1.000:0.998:1.000:1.000 NULL "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "(deletion:cds_exon[64115605,64116006])" no_errors NRXN2 9379 genome.wustl.edu 36 11 64146987 64146987 + Silent SNP G G T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64146987 64146987 G T SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed silent c.3987 p.P1329 1 NULL "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294" - no_errors ATG2A 23130 genome.wustl.edu 36 11 64436297 64436297 + Missense_Mutation SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64436297 64436297 T A SNP ATG2A NM_015104 human genbank 54_36p -1 provisional missense c.923 p.D308V 0.5 NULL "PatternScan_OX2_COVAL_FAD,HMMPfam_ATG_C,PatternScan_ADH_ZINC" - no_errors BATF2 116071 genome.wustl.edu 36 11 64513696 64513696 + Silent SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64513696 64513696 C T SNP BATF2 NM_138456 human genbank 54_36p -1 validated silent c.306 p.Q102 0.03 NULL "HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC" - no_errors SNX15 29907 genome.wustl.edu 36 11 64556496 64556496 + Silent SNP G G T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64556496 64556496 G T SNP SNX15 NM_013306 human genbank 54_36p 1 reviewed silent c.153 p.R51 1 "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312" "superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00745,HMMPfam_MIT" - no_errors TM7SF2 7108 genome.wustl.edu 36 11 64637637 64637637 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64637637 64637637 G C SNP TM7SF2 NM_003273 human genbank 54_36p 1 validated missense c.598 p.G200R 1 HMMPfam_ERG4_ERG24 "HMMPfam_ERG4_ERG24,PatternScan_STEROL_REDUCT_1,PatternScan_STEROL_REDUCT_2" - no_errors SYVN1 84447 genome.wustl.edu 36 11 64653850 64653850 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 64653850 64653850 G A SNP SYVN1 NM_172230 human genbank 54_36p -1 reviewed missense c.1522 p.R508C 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors DNHD1 144132 genome.wustl.edu 36 11 6486753 6486753 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6486753 6486753 G C SNP DNHD1 NM_173589 human genbank 54_36p 1 validated missense c.988 p.G330R 1 NULL NULL - no_errors MALAT1 378938 genome.wustl.edu 36 11 65025006 65025006 + RNA SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65025006 65025006 G T SNP MALAT1 NR_002819 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - no_errors MALAT1 378938 genome.wustl.edu 36 11 65026678 65026678 + RNA SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65026678 65026678 C T SNP MALAT1 NR_002819 human genbank 54_36p 1 provisional rna NULL NULL 1 - - - no_errors MALAT1 378938 genome.wustl.edu 36 11 65028263 65028264 + RNA INS - - GA novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 - - - GA - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 65028263 65028264 - GA INS MALAT1 NR_002819 human genbank 54_36p 1 provisional rna NULL NULL 0.996:1.000 - - - no_errors RELA 5970 genome.wustl.edu 36 11 65184219 65184219 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65184219 65184219 C G SNP RELA NM_021975 human genbank 54_36p -1 validated missense c.379 p.E127Q 1 "superfamily_p53-like transcription factors,HMMPfam_RHD" "superfamily_p53-like transcription factors,HMMPfam_RHD,PatternScan_REL_1,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG" - no_errors FIBP 9158 genome.wustl.edu 36 11 65408520 65408520 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65408520 65408520 C T SNP FIBP NM_198897 human genbank 54_36p -1 reviewed missense c.944 p.R315H 1 HMMPfam_FIBP HMMPfam_FIBP - no_errors SF3B2 10992 genome.wustl.edu 36 11 65585750 65585750 + Silent SNP A A G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65585750 65585750 A G SNP SF3B2 NM_006842 human genbank 54_36p 1 reviewed silent c.1797 p.T599 0.1 NULL "HMMPfam_SAP,HMMSmart_SM00513,HMMPfam_DUF382,HMMSmart_SM00581,HMMPfam_PSP" - no_errors PACS1 55690 genome.wustl.edu 36 11 65759368 65759368 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65759368 65759368 C G SNP PACS1 NM_018026 human genbank 54_36p 1 reviewed missense c.2125 p.R709G 0.89 HMMPfam_Pacs-1 HMMPfam_Pacs-1 - no_errors PELI3 246330 genome.wustl.edu 36 11 65997320 65997320 + Silent SNP C C T novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 65997320 65997320 C T SNP PELI3 NM_145065 human genbank 54_36p 1 validated silent c.489 p.F163 0.92 HMMPfam_Pellino HMMPfam_Pellino - no_errors DPP3 10072 genome.wustl.edu 36 11 66028817 66028817 + Silent SNP T T G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66028817 66028817 T G SNP DPP3 NM_005700 human genbank 54_36p 1 reviewed silent c.2037 p.L679 0.97 HMMPfam_Peptidase_M49 HMMPfam_Peptidase_M49 - no_errors CCDC87 55231 genome.wustl.edu 36 11 66116813 66116813 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66116813 66116813 T A SNP CCDC87 NM_018219 human genbank 54_36p -1 validated missense c.250 p.I84F 0.03 NULL NULL - no_errors RBM14 10432 genome.wustl.edu 36 11 66148264 66148264 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66148264 66148264 A G SNP RBM14 NM_006328 human genbank 54_36p 1 validated missense c.341 p.Y114C 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1" - no_errors RBM14 10432 genome.wustl.edu 36 11 66150529 66150529 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66150529 66150529 A C SNP RBM14 NM_006328 human genbank 54_36p 1 validated missense c.1824 p.L608F 1 NULL "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors RBM4 5936 genome.wustl.edu 36 11 66168159 66168159 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66168159 66168159 G A SNP RBM4 NM_002896 human genbank 54_36p 1 validated missense c.1075 p.A359T 1 NULL "HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1,HMMPfam_zf-CCHC,HMMSmart_SM00343" - no_errors RCE1 9986 genome.wustl.edu 36 11 66367857 66367858 + Frame_Shift_Del DEL CA CA - novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 CA CA CA - CA CA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66367857 66367858 CA - DEL RCE1 NM_005133 human genbank 54_36p 1 reviewed frame_shift_del c.237_238 p.S82fs 1.000:1.000 NULL HMMPfam_Abi "(deletion:cds_exon[66367806,66367908])" no_errors PC 5091 genome.wustl.edu 36 11 66375126 66375126 + Silent SNP T T C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66375126 66375126 T C SNP PC NM_000920 human genbank 54_36p -1 reviewed silent c.2184 p.E728 0.81 "superfamily_SSF51569,HMMPfam_HMGL-like" ############################################################################################################################################################################################################################################################### - no_errors SYT12 91683 genome.wustl.edu 36 11 66567861 66567861 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66567861 66567861 G T SNP SYT12 NM_177963 human genbank 54_36p 1 provisional missense c.798 p.Q266H 1 "superfamily_C2_CaLB,HMMSmart_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors KDM2A 22992 genome.wustl.edu 36 11 66774457 66774457 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 66774457 66774457 A C SNP FBXL11 NM_012308 human genbank 54_36p 1 reviewed missense c.2380 p.I794L 1 NULL "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-CXXC,PatternScan_2FE2S_FER_1,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367" - no_errors KDM2A 22992 genome.wustl.edu 36 11 66778962 66778962 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 66778962 66778962 C T SNP FBXL11 NM_012308 human genbank 54_36p 1 reviewed missense c.3349 p.R1117C 1 "HMMSmart_SM00367,superfamily_RNI-like" "HMMPfam_F-box,HMMSmart_SM00249,HMMPfam_zf-CXXC,HMMSmart_SM00558,PatternScan_2FE2S_FER_1,HMMSmart_SM00367,HMMPfam_JmjC,PatternScan_ZF_PHD_1,superfamily_Clavaminate synthase-like,superfamily_RNI-like" - no_errors TCIRG1 10312 genome.wustl.edu 36 11 67571713 67571713 + Silent SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 67571713 67571713 C A SNP TCIRG1 NM_006019 human genbank 54_36p 1 reviewed silent c.1329 p.G443 1 HMMPfam_V_ATPase_I HMMPfam_V_ATPase_I - no_errors SUV420H1 51111 genome.wustl.edu 36 11 67682106 67682106 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 67682106 67682106 C A SNP SUV420H1 NM_017635 human genbank 54_36p -1 reviewed missense c.2283 p.K761N 1 NULL "HMMPfam_SET,superfamily_SET domain,HMMSmart_SM00317" - no_errors SUV420H1 51111 genome.wustl.edu 36 11 67682381 67682381 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 67682381 67682381 G T SNP SUV420H1 NM_017635 human genbank 54_36p -1 reviewed missense c.2008 p.P670T 0.71 NULL "HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain" - no_errors OR6A2 8590 genome.wustl.edu 36 11 6772872 6772872 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 6772872 6772872 G T SNP OR6A2 NM_003696 human genbank 54_36p -1 provisional missense c.644 p.P215Q 0.27 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SHANK2 22941 genome.wustl.edu 36 11 70009842 70009842 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 70009842 70009842 C A SNP SHANK2 NM_012309 human genbank 54_36p -1 reviewed missense c.2419 p.D807Y 1 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors NLRP14 338323 genome.wustl.edu 36 11 7020928 7020928 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7020928 7020928 G A SNP NLRP14 NM_176822 human genbank 54_36p 1 reviewed missense c.1095 p.M365I 0.98 NULL "superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047" - no_errors DHCR7 1717 genome.wustl.edu 36 11 70830965 70830965 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 70830965 70830965 G A SNP DHCR7 NM_001360 human genbank 54_36p -1 validated missense c.404 p.T135I 1 NULL "HMMPfam_ERG4_ERG24,PatternScan_STEROL_REDUCT_1,PatternScan_STEROL_REDUCT_2" - no_errors NUMA1 4926 genome.wustl.edu 36 11 71404009 71404023 + In_Frame_Del DEL CCAGGGCATCTGCAG CCAGGGCATCTGCAG - novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 CCAGGGCATCTGCAG CCAGGGCATCTGCAG CCAGGGCATCTGCAG - CCAGGGCATCTGCAG CCAGGGCATCTGCAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 71404009 71404023 CCAGGGCATCTGCAG - DEL NUMA1 NM_006185 human genbank 54_36p -1 validated in_frame_del c.2188_2174 p.AADAL725in_frame_del 0.016:0.017:0.018:0.006:0.002:0.000:0.000:0.000:0.002:0.005:0.001:0.007:0.006:0.000:0.079 NULL superfamily_Prefoldin "(deletion:cds_exon[71401589,71404954])" no_errors FOLR1 2348 genome.wustl.edu 36 11 71584666 71584666 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 71584666 71584666 G A SNP FOLR1 NM_000802 human genbank 54_36p 1 reviewed missense c.571 p.E191K 0.38 HMMPfam_Folate_rec HMMPfam_Folate_rec - no_errors INPPL1 3636 genome.wustl.edu 36 11 71618898 71618898 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 71618898 71618898 G A SNP INPPL1 NM_001567 human genbank 54_36p 1 reviewed missense c.1025 p.R342Q 1 NULL "superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1" - no_errors PDE2A 5138 genome.wustl.edu 36 11 71977887 71977887 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 71977887 71977887 G T SNP PDE2A NM_002599 human genbank 54_36p -1 validated missense c.919 p.Q307K 1 "superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065" "superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors FCHSD2 9873 genome.wustl.edu 36 11 72231902 72231902 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 72231902 72231902 C T SNP FCHSD2 NM_014824 human genbank 54_36p -1 validated silent c.1479 p.T493 0.81 NULL "HMMPfam_FCH,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors P2RY2 5029 genome.wustl.edu 36 11 72623231 72623231 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 72623231 72623231 A T SNP P2RY2 NM_002564 human genbank 54_36p 1 reviewed missense c.379 p.I127F 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors P2RY6 5031 genome.wustl.edu 36 11 72686049 72686049 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 72686049 72686049 G T SNP P2RY6 NM_004154 human genbank 54_36p 1 reviewed missense c.838 p.A280S 0.88 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors PLEKHB1 58473 genome.wustl.edu 36 11 73039304 73039304 + Silent SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 73039304 73039304 G T SNP PLEKHB1 NM_021200 human genbank 54_36p 1 validated silent c.153 p.L51 1 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors C2CD3 26005 genome.wustl.edu 36 11 73521642 73521642 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 73521642 73521642 C G SNP C2CD3 NM_015531 human genbank 54_36p -1 validated missense c.1112 p.R371P 0 NULL "HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors PGM2L1 283209 genome.wustl.edu 36 11 73734324 73734324 + Silent SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 73734324 73734324 G A SNP PGM2L1 NM_173582 human genbank 54_36p -1 validated silent c.1056 p.F352 1 superfamily_Phosphoglucomutase first 3 domains "superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,HMMPfam_PGM_PMM_II,superfamily_Phosphoglucomutase C-terminal domain" - no_errors SYT9 143425 genome.wustl.edu 36 11 7395807 7395807 + Silent SNP G G T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7395807 7395807 G T SNP SYT9 NM_175733 human genbank 54_36p 1 provisional silent c.1209 p.L403 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SYT9 143425 genome.wustl.edu 36 11 7398412 7398412 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7398412 7398412 G A SNP SYT9 NM_175733 human genbank 54_36p 1 provisional silent c.1437 p.K479 1 "HMMSmart_C2,superfamily_C2_CaLB" "HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB" - no_errors POLD3 10714 genome.wustl.edu 36 11 74024916 74024916 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 74024916 74024916 A C SNP POLD3 NM_006591 human genbank 54_36p 1 validated missense c.1146 p.K382N 1 HMMPfam_CDC27 HMMPfam_CDC27 - no_errors RNF169 254225 genome.wustl.edu 36 11 74224512 74224512 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 74224512 74224512 A G SNP RNF169 NM_001098638 human genbank 54_36p 1 validated missense c.1216 p.I406V 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors OLFML1 283298 genome.wustl.edu 36 11 7466209 7466209 + Silent SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7466209 7466209 T A SNP OLFML1 NM_198474 human genbank 54_36p 1 provisional silent c.405 p.T135 0.29 NULL "HMMPfam_OLF,HMMSmart_SM00284" - no_errors OLFML1 283298 genome.wustl.edu 36 11 7487543 7487543 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7487543 7487543 C G SNP OLFML1 NM_198474 human genbank 54_36p 1 provisional missense c.757 p.P253A 0.85 "HMMPfam_OLF,HMMSmart_SM00284" "HMMPfam_OLF,HMMSmart_SM00284" - no_errors MOGAT2 80168 genome.wustl.edu 36 11 75106597 75106597 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 75106597 75106597 C A SNP MOGAT2 NM_025098 human genbank 54_36p 1 provisional missense c.16 p.P6T 0.92 NULL HMMPfam_DAGAT - no_errors MOGAT2 80168 genome.wustl.edu 36 11 75116767 75116767 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 75116767 75116767 G A SNP MOGAT2 NM_025098 human genbank 54_36p 1 provisional missense c.580 p.A194T 1 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors PRKRIR 5612 genome.wustl.edu 36 11 75739612 75739612 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1428-01A-01W-0549-09 TCGA-24-1428-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 75739612 75739612 A G SNP PRKRIR NM_004705 human genbank 54_36p -1 provisional missense c.2230 p.Y744H 1 NULL "HMMPfam_THAP,HMMSmart_SM00692,HMMPfam_hATC" - no_errors PRKRIR 5612 genome.wustl.edu 36 11 75740173 75740173 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 75740173 75740173 G A SNP PRKRIR NM_004705 human genbank 54_36p -1 provisional missense c.1669 p.R557C 1 NULL "HMMPfam_THAP,HMMSmart_SM00692,HMMPfam_hATC" - no_errors C11orf30 56946 genome.wustl.edu 36 11 75852728 75852728 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 75852728 75852728 T C SNP C11orf30 NM_020193 human genbank 54_36p 1 validated missense c.787 p.F263L 1 NULL HMMPfam_ENT - no_errors PPFIBP2 8495 genome.wustl.edu 36 11 7617649 7617649 + Silent SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 7617649 7617649 C T SNP PPFIBP2 NM_003621 human genbank 54_36p 1 validated silent c.1347 p.D449 0.08 NULL "HMMPfam_Integrase_DNA,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors MYO7A 4647 genome.wustl.edu 36 11 76548208 76548208 + Silent SNP C G G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 76548208 76548208 C G SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed silent c.1071 p.S357 0.3 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head" ############################################################################################################################################################################################################################################################### - no_errors MYO7A 4647 genome.wustl.edu 36 11 76578105 76578105 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 76578105 76578105 G T SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed missense c.3572 p.G1191V 1 "HMMPfam_MyTH4,HMMSmart_SM00139" ############################################################################################################################################################################################################################################################### - no_errors MYO7A 4647 genome.wustl.edu 36 11 76591795 76591795 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 76591795 76591795 G C SNP MYO7A NM_000260 human genbank 54_36p 1 reviewed missense c.5097 p.K1699N 1 NULL ############################################################################################################################################################################################################################################################### - no_errors INTS4 92105 genome.wustl.edu 36 11 77349752 77349752 + Silent SNP G G C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77349752 77349752 G C SNP INTS4 NM_033547 human genbank 54_36p -1 validated silent c.552 p.V184 0.63 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors ALG8 79053 genome.wustl.edu 36 11 77516105 77516105 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77516105 77516105 G C SNP ALG8 NM_024079 human genbank 54_36p -1 reviewed missense c.121 p.R41G 1 HMMPfam_Alg6_Alg8 HMMPfam_Alg6_Alg8 - no_errors USP35 57558 genome.wustl.edu 36 11 77594679 77594679 + Silent SNP C C G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77594679 77594679 C G SNP USP35 NM_020798 human genbank 54_36p 1 validated silent c.1341 p.G447 0.92 "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1" "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors GAB2 9846 genome.wustl.edu 36 11 77612115 77612115 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77612115 77612115 C T SNP GAB2 NM_080491 human genbank 54_36p -1 reviewed missense c.1558 p.D520N 1 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors NARS2 79731 genome.wustl.edu 36 11 77954928 77954928 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77954928 77954928 C G SNP NARS2 NM_024678 human genbank 54_36p -1 provisional missense c.411 p.E137D 0.99 "HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases" "superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_anti,HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases" - no_errors NARS2 79731 genome.wustl.edu 36 11 77957396 77957396 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 77957396 77957396 C G SNP NARS2 NM_024678 human genbank 54_36p -1 provisional missense c.302 p.S101T 1 "HMMPfam_tRNA_anti,superfamily_Nucleic acid-binding proteins" "HMMPfam_tRNA-synt_2,HMMPfam_tRNA_anti,superfamily_Nucleic acid-binding proteins,superfamily_Class II aaRS and biotin synthetases" - no_errors ODZ4 26011 genome.wustl.edu 36 11 78065017 78065017 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 78065017 78065017 C T SNP ODZ4 NM_001098816 human genbank 54_36p -1 validated missense c.3338 p.G1113D 1 NULL "superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_NHL repeat,superfamily_TolB C-terminal domain,HMMPfam_NHL,HMMPfam_RHS_repeat" - no_errors TUB 7275 genome.wustl.edu 36 11 8079097 8079097 + Missense_Mutation SNP T T A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 8079097 8079097 T A SNP TUB NM_003320 human genbank 54_36p 1 reviewed missense c.1529 p.F510Y 1 "superfamily_Tubby_C,HMMPfam_Tub,PatternScan_TUB_1" "superfamily_Tubby_C,HMMPfam_Tub,PatternScan_TUB_1,PatternScan_TUB_2" - no_errors PCF11 51585 genome.wustl.edu 36 11 82546129 82546129 + Silent SNP A A C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 82546129 82546129 A C SNP PCF11 ENST00000298281 human ensembl 54_36p 1 known silent c.297 p.A99 1 NULL "superfamily_ENTH/VHS domain,HMMSmart_SM00582,HMMPfam_DUF618" - no_start_codon DLG2 1740 genome.wustl.edu 36 11 82858038 82858038 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 82858038 82858038 C T SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed missense c.2158 p.E720K 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin" ############################################################################################################################################################################################################################################################### - no_errors DLG2 1740 genome.wustl.edu 36 11 82860373 82860373 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 82860373 82860373 C T SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed missense c.2075 p.R692Q 1 "superfamily_SH3-domain,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases" ############################################################################################################################################################################################################################################################### - no_errors DLG2 1740 genome.wustl.edu 36 11 83175364 83175364 + Silent SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 83175364 83175364 T C SNP DLG2 ENST00000398301 human ensembl 54_36p -1 known silent c.1644 p.K548 0 superfamily_PDZ "HMMPfam_MAGUK_N_PEST,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_PDZ_assoc,PatternScan_SERPIN" - no_errors STK33 65975 genome.wustl.edu 36 11 8370708 8370708 + Silent SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 8370708 8370708 C T SNP STK33 NM_030906 human genbank 54_36p -1 validated silent c.1470 p.V490 0 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors STK33 65975 genome.wustl.edu 36 11 8442866 8442866 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 8442866 8442866 G A SNP STK33 NM_030906 human genbank 54_36p -1 validated missense c.419 p.T140M 0.75 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors TMEM126A 84233 genome.wustl.edu 36 11 85042847 85042847 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 85042847 85042847 T C SNP TMEM126A NM_032273 human genbank 54_36p 1 provisional missense c.179 p.V60A 1 HMMPfam_DUF1370 HMMPfam_DUF1370 - no_errors TMEM126A 84233 genome.wustl.edu 36 11 85044369 85044369 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 85044369 85044369 G A SNP TMEM126A NM_032273 human genbank 54_36p 1 provisional missense c.364 p.A122T 1 HMMPfam_DUF1370 HMMPfam_DUF1370 - no_errors CREBZF 58487 genome.wustl.edu 36 11 85052903 85052903 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 85052903 85052903 C A SNP CREBZF NM_001039618 human genbank 54_36p -1 validated missense c.665 p.R222L 1 HMMSmart_BRLZ "PatternScan_BZIP_BASIC,HMMSmart_BRLZ" - no_errors SYTL2 54843 genome.wustl.edu 36 11 85113990 85113990 + Silent SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 85113990 85113990 C T SNP SYTL2 NM_206927 human genbank 54_36p -1 reviewed silent c.1158 p.S386 1 NULL "PatternScan_PHOSPHOPANTETHEINE,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors PICALM 8301 genome.wustl.edu 36 11 85363443 85363443 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 11 85363443 85363443 C T SNP PICALM NM_007166 human genbank 54_36p -1 validated missense c.1900 p.V634I 1 NULL "superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273,superfamily_GAT-like domain" - no_errors TYR 7299 genome.wustl.edu 36 11 88564148 88564148 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 88564148 88564148 A C SNP TYR NM_000372 human genbank 54_36p 1 reviewed missense c.950 p.D317A 1 "superfamily_Di-copper centre-containing domain,HMMPfam_Tyrosinase" "superfamily_Di-copper centre-containing domain,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2" - no_errors NOX4 50507 genome.wustl.edu 36 11 88863277 88863277 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 88863277 88863277 C A SNP NOX4 NM_016931 human genbank 54_36p -1 reviewed missense c.150 p.L50F 1 NULL "HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_8,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_6" - no_errors FOLH1B 219595 genome.wustl.edu 36 11 89053438 89053438 + Silent SNP G G A novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 89053438 89053438 G A SNP PSMAL NM_153696 human genbank 54_36p 1 predicted silent c.462 p.L154 1 superfamily_SSF53187 "superfamily_SSF53187,HMMPfam_Peptidase_M28,superfamily_Transferrin_rcpt-like_dimerise,HMMPfam_TFR_dimer" - no_errors FOLH1B 219595 genome.wustl.edu 36 11 89069480 89069480 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 89069480 89069480 C A SNP PSMAL NM_153696 human genbank 54_36p 1 predicted missense c.1078 p.L360I 1 "HMMPfam_TFR_dimer,superfamily_Transferrin_rcpt-like_dimerise" "HMMPfam_TFR_dimer,superfamily_Transferrin_rcpt-like_dimerise,HMMPfam_Peptidase_M28,superfamily_SSF53187" - no_errors HEPHL1 341208 genome.wustl.edu 36 11 93394202 93394202 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 93394202 93394202 C T SNP HEPHL1 NM_001098672 human genbank 54_36p 1 validated missense c.20 p.A7V 0.51 NULL "superfamily_Cupredoxin,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2" - no_errors HEPHL1 341208 genome.wustl.edu 36 11 93478930 93478930 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 93478930 93478930 A T SNP HEPHL1 NM_001098672 human genbank 54_36p 1 validated missense c.3031 p.S1011C 1 "superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2" "PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2,superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2,HMMPfam_Cu-oxidase_3" - no_errors GPR83 10888 genome.wustl.edu 36 11 93753026 93753026 + Silent SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 93753026 93753026 G T SNP GPR83 NM_016540 human genbank 54_36p -1 validated silent c.1209 p.T403 0.93 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CEP57 9702 genome.wustl.edu 36 11 95203847 95203847 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 95203847 95203847 C A SNP CEP57 NM_014679 human genbank 54_36p 1 validated missense c.1282 p.Q428K 0.99 NULL HMMPfam_DUF1167 - no_errors MAML2 84441 genome.wustl.edu 36 11 95351789 95351789 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 11 95351789 95351789 G A SNP MAML2 NM_032427 human genbank 54_36p -1 validated missense c.3442 p.L1148F 1 NULL HMMPfam_MamL-1 - no_errors MAML2 84441 genome.wustl.edu 36 11 95465303 95465303 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 95465303 95465303 T C SNP MAML2 NM_032427 human genbank 54_36p -1 validated missense c.1540 p.M514V 0.42 NULL HMMPfam_MamL-1 - no_errors SWAP70 23075 genome.wustl.edu 36 11 9702956 9702956 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 9702956 9702956 C A SNP SWAP70 NM_015055 human genbank 54_36p 1 validated missense c.590 p.S197Y 1 NULL "superfamily_SSF47473,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors SWAP70 23075 genome.wustl.edu 36 11 9726064 9726064 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 9726064 9726064 C T SNP SWAP70 NM_015055 human genbank 54_36p 1 validated missense c.1439 p.A480V 0.98 NULL "HMMPfam_PH,HMMSmart_PH,superfamily_SSF47473,superfamily_SSF50729" - no_errors CNTN5 53942 genome.wustl.edu 36 11 99567102 99567102 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 99567102 99567102 C G SNP CNTN5 NM_014361 human genbank 54_36p 1 reviewed missense c.1615 p.L539V 1 "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408" "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_V-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors RBMXP4 100132580 genome.wustl.edu 36 4 110488171 110488171 + RNA SNP G A A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 110488171 110488171 G A SNP LOC100132580 XR_037807 human genbank 54_36p -1 model rna NULL NULL 0.02 - - - pseudogene FDXACB1 91893 genome.wustl.edu 36 11 111251600 111251600 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 111251600 111251600 A T SNP FDXACB1 NM_138378 human genbank 54_36p -1 validated missense c.1131 p.F377L 1 NULL "HMMPfam_DUF2431,superfamily_Anticodon-binding domain of PheRS,HMMPfam_FDX-ACB" - no_errors LOC100132843 100132843 genome.wustl.edu 36 10 111430605 111430605 + RNA SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 111430605 111430605 G A SNP LOC100132843 XR_037957 human genbank 54_36p 1 model rna NULL NULL 0.99 - - - pseudogene LOC100129929 100129929 genome.wustl.edu 36 3 11900053 11900053 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 11900053 11900053 G T SNP LOC100129929 XM_001716291 human genbank 54_36p 1 model nonsense c.715 p.E239* 1 NULL NULL - no_errors ANO4 121601 genome.wustl.edu 36 12 100014552 100014552 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 100014552 100014552 G A SNP ANO4 NM_178826 human genbank 54_36p 1 validated missense c.1741 p.G581R 1 NULL HMMPfam_DUF590 - no_errors GNPTAB 79158 genome.wustl.edu 36 12 100677965 100677965 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 100677965 100677965 G A SNP GNPTAB NM_024312 human genbank 54_36p -1 validated nonsense c.3223 p.Q1075* 1 NULL "HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain,HMMPfam_DMAP_binding,PatternScan_EF_HAND_1" - no_errors CLEC9A 283420 genome.wustl.edu 36 12 10098181 10098181 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10098181 10098181 G C SNP CLEC9A NM_207345 human genbank 54_36p 1 provisional missense c.136 p.G46R 0.05 NULL "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1" - no_errors PAH 5053 genome.wustl.edu 36 12 101812699 101812706 + Frame_Shift_Del DEL CTCAAGAT CTCAAGAT - novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 CTCAAGAT CTCAAGAT CTCAAGAT - CTCAAGAT CTCAAGAT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 101812699 101812706 CTCAAGAT - DEL PAH NM_000277 human genbank 54_36p -1 reviewed frame_shift_del c.296_289 p.I97fs 0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000 "superfamily_SSF55021,HMMPfam_ACT" "superfamily_SSF55021,HMMPfam_ACT,superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL" "(deletion:cds_exon[101812643,101812826])" no_errors C12orf42 374470 genome.wustl.edu 36 12 102220257 102220257 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 102220257 102220257 G A SNP C12orf42 NM_001099336 human genbank 54_36p -1 validated missense c.842 p.A281V 0.94 NULL NULL - no_errors C12orf42 374470 genome.wustl.edu 36 12 102220460 102220460 + Silent SNP G A A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102220460 102220460 G A SNP C12orf42 NM_001099336 human genbank 54_36p -1 validated silent c.639 p.A213 0 NULL NULL - no_errors C12orf59 120939 genome.wustl.edu 36 12 10223492 10223492 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10223492 10223492 C T SNP C12orf59 NM_153022 human genbank 54_36p 1 validated silent c.36 p.S12 0.95 NULL NULL - no_errors STAB2 55576 genome.wustl.edu 36 12 102508878 102508878 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102508878 102508878 T A SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed missense c.155 p.V52D 0.02 NULL ############################################################################################################################################################################################################################################################### - no_errors STAB2 55576 genome.wustl.edu 36 12 102578251 102578251 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102578251 102578251 C T SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed missense c.1747 p.L583F 1 "HMMPfam_Fasciclin,HMMSmart_FAS1,superfamily_BIgH3_FAS1" ############################################################################################################################################################################################################################################################### - no_errors STAB2 55576 genome.wustl.edu 36 12 102655613 102655613 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102655613 102655613 C T SNP STAB2 NM_017564 human genbank 54_36p 1 reviewed silent c.5622 p.A1874 1 "HMMPfam_Fasciclin,HMMSmart_FAS1,superfamily_BIgH3_FAS1" ############################################################################################################################################################################################################################################################### - no_errors NT5DC3 51559 genome.wustl.edu 36 12 102732871 102732871 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102732871 102732871 G A SNP NT5DC3 NM_001031701 human genbank 54_36p -1 validated missense c.367 p.R123W 1 superfamily_HAD-like "superfamily_HAD-like,HMMPfam_5_nucleotid" - no_errors TDG 6996 genome.wustl.edu 36 12 102900832 102900832 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102900832 102900832 G T SNP TDG NM_003211 human genbank 54_36p 1 reviewed missense c.604 p.D202Y 1 "superfamily_UDNA_glycsylseSF,HMMPfam_UDG" "superfamily_UDNA_glycsylseSF,HMMPfam_UDG" - no_errors TDG 6996 genome.wustl.edu 36 12 102903529 102903529 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 102903529 102903529 C T SNP TDG NM_003211 human genbank 54_36p 1 reviewed missense c.983 p.A328V 1 NULL "HMMPfam_UDG,superfamily_UDNA_glycsylseSF" - no_errors HCFC2 29915 genome.wustl.edu 36 12 103011382 103011382 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 103011382 103011382 C T SNP HCFC2 NM_013320 human genbank 54_36p 1 reviewed missense c.1373 p.T458M 0 "HMMSmart_SM00060,superfamily_Fibronectin type III" "superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3" - no_errors SLC41A2 84102 genome.wustl.edu 36 12 103845916 103845916 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 103845916 103845916 T C SNP SLC41A2 NM_032148 human genbank 54_36p -1 validated missense c.271 p.T91A 1 NULL HMMPfam_MgtE - no_errors KLRC3 3823 genome.wustl.edu 36 12 10462249 10462249 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10462249 10462249 G A SNP KLRC3 NM_007333 human genbank 54_36p -1 reviewed silent c.447 p.N149 0.01 "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" "superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C" - no_errors KLRC3 3823 genome.wustl.edu 36 12 10464245 10464245 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10464245 10464245 T C SNP KLRC3 NM_007333 human genbank 54_36p -1 reviewed missense c.172 p.I58V 0 NULL "HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like" - no_errors NUAK1 9891 genome.wustl.edu 36 12 104985028 104985028 + Silent SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 104985028 104985028 G C SNP NUAK1 NM_014840 human genbank 54_36p -1 validated silent c.1668 p.V556 0.05 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors TCP11L2 255394 genome.wustl.edu 36 12 105239497 105239497 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 105239497 105239497 T C SNP TCP11L2 NM_152772 human genbank 54_36p 1 provisional missense c.518 p.V173A 0.97 HMMPfam_Tcp11 HMMPfam_Tcp11 - no_errors POLR3B 55703 genome.wustl.edu 36 12 105281792 105281792 + Silent SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 105281792 105281792 G T SNP POLR3B NM_018082 human genbank 54_36p 1 provisional silent c.87 p.L29 1 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase ############################################################################################################################################################################################################################################################### - no_errors RIC8B 55188 genome.wustl.edu 36 12 105732884 105732884 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 105732884 105732884 T G SNP RIC8B NM_018157 human genbank 54_36p 1 validated missense c.413 p.L138R 1 "superfamily_ARM-type_fold,HMMPfam_Ric8" "superfamily_ARM-type_fold,HMMPfam_Ric8" - no_errors TMEM119 338773 genome.wustl.edu 36 12 107509713 107509713 + Silent SNP G A A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107509713 107509713 G A SNP TMEM119 NM_181724 human genbank 54_36p -1 validated silent c.576 p.G192 0.01 NULL NULL - no_errors SSH1 54434 genome.wustl.edu 36 12 107717052 107717052 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107717052 107717052 G A SNP SSH1 NM_018984 human genbank 54_36p -1 provisional missense c.1202 p.A401V 0.98 "superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1" "superfamily_DEK C-terminal domain,HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1" - no_errors SSH1 54434 genome.wustl.edu 36 12 107723085 107723085 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107723085 107723085 C T SNP SSH1 NM_018984 human genbank 54_36p -1 provisional missense c.830 p.R277H 1 "HMMPfam_DEK_C,superfamily_DEK C-terminal domain" "HMMPfam_DSPc,HMMPfam_DEK_C,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00195,superfamily_DEK C-terminal domain,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors SSH1 54434 genome.wustl.edu 36 12 107770579 107770579 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107770579 107770579 T C SNP SSH1 NM_018984 human genbank 54_36p -1 provisional missense c.74 p.E25G 1 NULL "HMMPfam_DSPc,HMMPfam_DEK_C,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00195,superfamily_DEK C-terminal domain,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors DAO 1610 genome.wustl.edu 36 12 107805409 107805409 + Silent SNP C C T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 107805409 107805409 C T SNP DAO NM_001917 human genbank 54_36p 1 reviewed silent c.249 p.N83 0.65 "superfamily_Nucleotide-binding domain,HMMPfam_DAO" "superfamily_Nucleotide-binding domain,HMMPfam_DAO,superfamily_FAD-linked reductases C-terminal domain,PatternScan_AA_TRNA_LIGASE_I,PatternScan_DAO" - no_errors ACACB 32 genome.wustl.edu 36 12 108138838 108138838 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 108138838 108138838 C G SNP ACACB NM_001093 human genbank 54_36p 1 reviewed missense c.3383 p.T1128R 0.39 HMMPfam_ACC_central ############################################################################################################################################################################################################################################################### - no_errors ACACB 32 genome.wustl.edu 36 12 108144727 108144727 + Silent SNP G G A novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 108144727 108144727 G A SNP ACACB NM_001093 human genbank 54_36p 1 reviewed silent c.3597 p.S1199 0.29 HMMPfam_ACC_central ############################################################################################################################################################################################################################################################### - no_errors ACACB 32 genome.wustl.edu 36 12 108145067 108145067 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 108145067 108145067 G T SNP ACACB NM_001093 human genbank 54_36p 1 reviewed missense c.3759 p.M1253I 1 HMMPfam_ACC_central ############################################################################################################################################################################################################################################################### - no_errors MYO1H 283446 genome.wustl.edu 36 12 108361889 108361889 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 108361889 108361889 C T SNP MYO1H NM_001101421 human genbank 54_36p 1 inferred missense c.2347 p.R783W 0.98 NULL "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMPfam_Myosin_TH1" - no_errors TAS2R8 50836 genome.wustl.edu 36 12 10850410 10850410 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 10850410 10850410 A T SNP TAS2R8 NM_023918 human genbank 54_36p -1 reviewed missense c.437 p.L146H 0.01 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors TAS2R9 50835 genome.wustl.edu 36 12 10853316 10853316 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 10853316 10853316 G T SNP TAS2R9 NM_023917 human genbank 54_36p -1 reviewed missense c.626 p.T209N 0.18 "HMMPfam_TAS2R,superfamily_SSF81321" "HMMPfam_TAS2R,superfamily_SSF81321" - no_errors IFT81 28981 genome.wustl.edu 36 12 109065708 109065708 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 109065708 109065708 C G SNP IFT81 NM_014055 human genbank 54_36p 1 validated missense c.920 p.S307C 1 NULL NULL - no_errors ATP2A2 488 genome.wustl.edu 36 12 109204980 109204980 + Silent SNP T C C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 109204980 109204980 T C SNP ATP2A2 NM_170665 human genbank 54_36p 1 reviewed silent c.216 p.S72 1 "superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_N" ############################################################################################################################################################################################################################################################### - no_errors ARPC3 10094 genome.wustl.edu 36 12 109362576 109362576 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 109362576 109362576 G T SNP ARPC3 NM_005719 human genbank 54_36p -1 reviewed missense c.107 p.T36K 1 "HMMPfam_P21-Arc,superfamily_Arp2/3 complex 21 kDa subunit ARPC3" "HMMPfam_P21-Arc,superfamily_Arp2/3 complex 21 kDa subunit ARPC3" - no_errors CCDC63 160762 genome.wustl.edu 36 12 109780780 109780780 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 109780780 109780780 A C SNP CCDC63 NM_152591 human genbank 54_36p 1 provisional missense c.187 p.I63L 0.27 NULL NULL - no_errors CUX2 23316 genome.wustl.edu 36 12 110230518 110230518 + Missense_Mutation SNP C G G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110230518 110230518 C G SNP CUX2 NM_015267 human genbank 54_36p 1 validated missense c.1156 p.Q386E 1 NULL "HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors CUX2 23316 genome.wustl.edu 36 12 110269778 110269778 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110269778 110269778 G C SNP CUX2 NM_015267 human genbank 54_36p 1 validated missense c.3727 p.G1243R 0.93 superfamily_Homeodomain-like "HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1" - no_errors TAS2R50 259296 genome.wustl.edu 36 12 11030719 11030719 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 11030719 11030719 G C SNP TAS2R50 NM_176890 human genbank 54_36p -1 validated missense c.8 p.T3S 0 "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" - no_errors SH2B3 10019 genome.wustl.edu 36 12 110369574 110369574 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110369574 110369574 C G SNP SH2B3 NM_005475 human genbank 54_36p 1 validated missense c.1079 p.S360C 1 superfamily_SH2 domain "HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors ACAD10 80724 genome.wustl.edu 36 12 110671532 110671532 + Silent SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110671532 110671532 C T SNP ACAD10 NM_025247 human genbank 54_36p 1 reviewed silent c.2817 p.R939 0.51 "HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like" ############################################################################################################################################################################################################################################################### - no_errors ALDH2 217 genome.wustl.edu 36 12 110712635 110712635 + Silent SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110712635 110712635 C G SNP ALDH2 NM_000690 human genbank 54_36p 1 reviewed silent c.567 p.L189 0.99 "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh" "superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS" - no_errors TMEM116 89894 genome.wustl.edu 36 12 110856111 110856111 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 110856111 110856111 C G SNP TMEM116 NM_138341 human genbank 54_36p -1 provisional missense c.419 p.R140P 0.06 NULL NULL - no_errors NAA25 80018 genome.wustl.edu 36 12 111000884 111000884 + Silent SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 111000884 111000884 C T SNP C12orf30 NM_024953 human genbank 54_36p -1 validated silent c.522 p.L174 1 superfamily_TPR-like "superfamily_TPR-like,HMMPfam_NatB_MDM20" - no_errors C12orf51 283450 genome.wustl.edu 36 12 111094866 111094866 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 111094866 111094866 C T SNP C12orf51 NM_001109662 human genbank 54_36p -1 validated missense c.10511 p.C3504Y 1 NULL "superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors TAS2R43 259289 genome.wustl.edu 36 12 11135240 11135240 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 11135240 11135240 G C SNP TAS2R43 NM_176884 human genbank 54_36p -1 provisional missense c.856 p.L286V 0.01 "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like" - no_errors RPH3A 22895 genome.wustl.edu 36 12 111805509 111805509 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 111805509 111805509 G A SNP RPH3A NM_014954 human genbank 54_36p 1 validated missense c.1343 p.R448Q 1 "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" "HMMPfam_RPH3A_effector,superfamily_FYVE_PHD_ZnF,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors OAS1 4938 genome.wustl.edu 36 12 111833292 111833292 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 111833292 111833292 G A SNP OAS1 NM_001032409 human genbank 54_36p 1 reviewed missense c.523 p.E175K 0 "superfamily_Nucleotidyltransferase,HMMPfam_OAS1_C" "superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2" - no_errors DTX1 1840 genome.wustl.edu 36 12 112019056 112019056 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 112019056 112019056 G A SNP DTX1 NM_004416 human genbank 54_36p 1 reviewed missense c.1792 p.A598T 1 NULL "PatternScan_ZF_RING_1,HMMPfam_WWE,HMMSmart_WWE,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4" - no_errors TBX5 6910 genome.wustl.edu 36 12 113278030 113278030 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 113278030 113278030 T A SNP TBX5 NM_000192 human genbank 54_36p -1 reviewed missense c.1247 p.Q416L 1 NULL "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2" - no_errors FBXW8 26259 genome.wustl.edu 36 12 115850266 115850266 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 115850266 115850266 T C SNP FBXW8 NM_153348 human genbank 54_36p 1 reviewed missense c.374 p.I125T 1 "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256" "superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,HMMPfam_WD40" - no_errors NOS1 4842 genome.wustl.edu 36 12 116178198 116178198 + Silent SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 116178198 116178198 G T SNP NOS1 ENST00000338101 human ensembl 54_36p -1 known silent c.2559 p.P853 1 "superfamily_Flavoproteins,HMMPfam_Flavodoxin_1" ############################################################################################################################################################################################################################################################### - no_errors SRRM4 84530 genome.wustl.edu 36 12 118076550 118076550 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118076550 118076550 T G SNP KIAA1853 NM_194286 human genbank 54_36p 1 validated missense c.1511 p.L504R 1 NULL NULL - no_errors CCDC60 160777 genome.wustl.edu 36 12 118401332 118401332 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118401332 118401332 G A SNP CCDC60 NM_178499 human genbank 54_36p 1 validated missense c.392 p.R131H 0.18 NULL NULL - no_errors CCDC60 160777 genome.wustl.edu 36 12 118422311 118422311 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118422311 118422311 C A SNP CCDC60 NM_178499 human genbank 54_36p 1 validated missense c.603 p.D201E 1 NULL NULL - no_errors CIT 11113 genome.wustl.edu 36 12 118693045 118693045 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118693045 118693045 C T SNP CIT ENST00000392521 human ensembl 54_36p -1 known missense c.2135 p.R712H 1 NULL ############################################################################################################################################################################################################################################################### - no_errors CIT 11113 genome.wustl.edu 36 12 118695044 118695044 + Silent SNP T T C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 118695044 118695044 T C SNP CIT NM_007174 human genbank 54_36p -1 validated silent c.1995 p.A665 0.91 NULL ############################################################################################################################################################################################################################################################### - no_errors CCDC64 92558 genome.wustl.edu 36 12 119003073 119003073 + Splice_Site SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 119003073 119003073 G C SNP CCDC64 NM_207311 human genbank 54_36p 1 validated splice_site c.1309-1 e7-1 1 - - - no_errors GCN1L1 10985 genome.wustl.edu 36 12 119080063 119080063 + Silent SNP G G A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 119080063 119080063 G A SNP GCN1L1 NM_006836 human genbank 54_36p -1 validated silent c.3060 p.P1020 0 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors RNF10 9921 genome.wustl.edu 36 12 119479604 119479604 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 119479604 119479604 G A SNP RNF10 NM_014868 human genbank 54_36p 1 reviewed missense c.782 p.S261N 1 "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1" - no_errors ANAPC5 51433 genome.wustl.edu 36 12 120242632 120242633 + Missense_Mutation DNP GC GC AT novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 120242632 120242633 GC AT DNP ANAPC5 NM_016237 human genbank 54_36p -1 reviewed missense c.1454_1453 p.A485I 1.000:0.998 "superfamily_TPR-like,HMMSmart_SM00028" "superfamily_TPR-like,HMMSmart_SM00028" - no_errors KDM2B 84678 genome.wustl.edu 36 12 120362202 120362202 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 120362202 120362202 C A SNP FBXL10 NM_032590 human genbank 54_36p -1 reviewed missense c.3670 p.D1224Y 1 "superfamily_RNI-like,HMMSmart_SM00367" "superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367" - no_errors RHOF 54509 genome.wustl.edu 36 12 120701841 120701841 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 120701841 120701841 G C SNP RHOF NM_019034 human genbank 54_36p -1 validated missense c.582 p.S194R 0.94 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors MLXIP 22877 genome.wustl.edu 36 12 121180101 121180101 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121180101 121180101 A G SNP MLXIP ENST00000319080 human ensembl 54_36p 1 known missense c.709 p.K237E 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353" - no_errors MLXIP 22877 genome.wustl.edu 36 12 121189425 121189425 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121189425 121189425 G T SNP MLXIP NM_014938 human genbank 54_36p 1 validated nonsense c.2095 p.G699* 1 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CLIP1 6249 genome.wustl.edu 36 12 121387219 121387219 + Silent SNP C C A novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121387219 121387219 C A SNP CLIP1 NM_002956 human genbank 54_36p -1 validated silent c.2448 p.G816 1 NULL "superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1" - no_errors ZCCHC8 55596 genome.wustl.edu 36 12 121532444 121532444 + Splice_Site SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121532444 121532444 C G SNP ZCCHC8 NM_017612 human genbank 54_36p -1 validated splice_site c.875+1 e9+1 1 - - - no_errors KNTC1 9735 genome.wustl.edu 36 12 121618772 121618772 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121618772 121618772 G T SNP KNTC1 NM_014708 human genbank 54_36p 1 reviewed missense c.1616 p.W539L 1 NULL "HMMPfam_Rod_C,PatternScan_BZIP_BASIC" - no_errors ERC1 23085 genome.wustl.edu 36 12 1216323 1216323 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 1216323 1216323 C T SNP ERC1 NM_178040 human genbank 54_36p 1 reviewed nonsense c.2479 p.Q827* 1 HMMPfam_Cast "HMMPfam_Cast,superfamily_Prefoldin,HMMPfam_RBD-FIP" - no_errors LRP6 4040 genome.wustl.edu 36 12 12165331 12165331 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 12165331 12165331 G T SNP LRP6 NM_002336 human genbank 54_36p -1 validated missense c.4838 p.S1613Y 1 NULL "superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors GPR81 27198 genome.wustl.edu 36 12 121780477 121780477 + Silent SNP G A A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 121780477 121780477 G A SNP GPR81 NM_032554 human genbank 54_36p -1 validated silent c.363 p.H121 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CCDC62 84660 genome.wustl.edu 36 12 121856670 121856670 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 121856670 121856670 G A SNP CCDC62 NM_201435 human genbank 54_36p 1 validated missense c.1726 p.D576N 0 NULL NULL - no_errors PITPNM2 57605 genome.wustl.edu 36 12 122037918 122037918 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 122037918 122037918 C T SNP PITPNM2 NM_020845 human genbank 54_36p -1 validated silent c.3276 p.T1092 0.01 NULL "HMMPfam_IP_trans,superfamily_Bet v1-like,HMMPfam_DDHD,superfamily_HAD-like,HMMPfam_LNS2,HMMSmart_SM00775" - no_errors DNAH10 196385 genome.wustl.edu 36 12 122838342 122838342 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 122838342 122838342 C A SNP DNAH10 NM_207437 human genbank 54_36p 1 validated missense c.731 p.A244D 1 HMMPfam_DHC_N1 HMMPfam_DHC_N1 - no_errors DNAH10 196385 genome.wustl.edu 36 12 122855451 122855451 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 122855451 122855451 C A SNP DNAH10 NM_207437 human genbank 54_36p 1 validated missense c.1998 p.H666Q 0.98 NULL HMMPfam_DHC_N1 - no_errors DNAH10 196385 genome.wustl.edu 36 12 122863771 122863771 + Silent SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 122863771 122863771 T A SNP DNAH10 NM_207437 human genbank 54_36p 1 validated silent c.2352 p.P784 0.99 NULL HMMPfam_DHC_N1 - no_errors UBC 7316 genome.wustl.edu 36 12 123964117 123964117 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 123964117 123964117 C T SNP UBC NM_021009 human genbank 54_36p -1 validated missense c.154 p.D52N 1 "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1" "HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin,PatternScan_UBIQUITIN_1" - no_errors BRI3BP 140707 genome.wustl.edu 36 12 124063063 124063063 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 124063063 124063063 C A SNP BRI3BP NM_080626 human genbank 54_36p 1 validated missense c.244 p.L82M 0.75 NULL NULL - no_errors AACS 65985 genome.wustl.edu 36 12 124175451 124175451 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 124175451 124175451 C T SNP AACS NM_023928 human genbank 54_36p 1 validated missense c.1237 p.P413S 1 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors TMEM132B 114795 genome.wustl.edu 36 12 124634364 124634364 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 124634364 124634364 G T SNP TMEM132B NM_052907 human genbank 54_36p 1 provisional missense c.1293 p.L431F 1 NULL NULL - no_errors TMEM132B 114795 genome.wustl.edu 36 12 124701392 124701392 + Silent SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 124701392 124701392 C T SNP TMEM132B NM_052907 human genbank 54_36p 1 provisional silent c.1839 p.I613 0.39 NULL NULL - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128124816 128124816 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 128124816 128124816 C A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated nonsense c.2857 p.E953* 0.92 NULL NULL - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128132509 128132509 + Silent SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 128132509 128132509 C T SNP TMEM132D NM_133448 human genbank 54_36p -1 validated silent c.1671 p.E557 0.99 NULL NULL - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128750475 128750475 + Silent SNP G A A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 128750475 128750475 G A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated silent c.801 p.I267 0.99 NULL NULL - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128750620 128750620 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 128750620 128750620 G A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated missense c.656 p.P219L 0 NULL NULL - no_errors GPR133 283383 genome.wustl.edu 36 12 130016964 130016964 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 130016964 130016964 T A SNP GPR133 NM_198827 human genbank 54_36p 1 validated missense c.107 p.F36Y 1 superfamily_Concanavalin A-like lectins/glucanases "superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR133 283383 genome.wustl.edu 36 12 130053283 130053283 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 130053283 130053283 C T SNP GPR133 ENST00000376682 human ensembl 54_36p 1 known missense c.32 p.P11L 0 NULL "HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors GPR133 283383 genome.wustl.edu 36 12 130054769 130054769 + Silent SNP C A A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 130054769 130054769 C A SNP GPR133 NM_198827 human genbank 54_36p 1 validated silent c.1230 p.I410 0.01 NULL "HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_G_PROTEIN_RECEP_F2_2" - no_errors SFSWAP 6433 genome.wustl.edu 36 12 130849938 130849938 + Silent SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 130849938 130849938 C T SNP SFRS8 NM_004592 human genbank 54_36p 1 reviewed silent c.2808 p.V936 0.97 NULL "HMMPfam_DRY_EERY,superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp" - no_errors POLE 5426 genome.wustl.edu 36 12 131711577 131711577 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 131711577 131711577 G T SNP POLE NM_006231 human genbank 54_36p -1 validated missense c.6734 p.T2245N 1 NULL "superfamily_RNaseH_fold,HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,HMMPfam_DNA_pol_B,superfamily_SSF56672,HMMPfam_DUF1744" - no_errors GOLGA3 2802 genome.wustl.edu 36 12 131883237 131883237 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 131883237 131883237 C G SNP GOLGA3 NM_005895 human genbank 54_36p -1 reviewed missense c.2061 p.M687I 1 NULL "superfamily_Spectrin repeat,superfamily_Prefoldin" - no_errors GRIN2B 2904 genome.wustl.edu 36 12 13659413 13659413 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 13659413 13659413 C T SNP GRIN2B NM_000834 human genbank 54_36p -1 reviewed missense c.1556 p.R519Q 1 "superfamily_SSF53850,HMMSmart_PBPe" "superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C" - no_errors ERC1 23085 genome.wustl.edu 36 12 1424012 1424012 + Silent SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 1424012 1424012 T G SNP ERC1 NM_178040 human genbank 54_36p 1 reviewed silent c.3048 p.L1016 1 NULL "superfamily_Prefoldin,HMMPfam_RBD-FIP,HMMPfam_Cast" - no_errors HIST4H4 121504 genome.wustl.edu 36 12 14815167 14815167 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 14815167 14815167 C T SNP HIST4H4 NM_175054 human genbank 54_36p -1 reviewed missense c.119 p.R40Q 1 "superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" "superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803" - no_errors WBP11 51729 genome.wustl.edu 36 12 14838057 14838057 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 14838057 14838057 T C SNP WBP11 NM_016312 human genbank 54_36p -1 reviewed missense c.788 p.D263G 1 NULL HMMPfam_Wbp11 - no_errors MGP 4256 genome.wustl.edu 36 12 14926380 14926380 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 14926380 14926380 G A SNP MGP NM_000900 human genbank 54_36p -1 validated missense c.272 p.A91V 1 "HMMSmart_GLA,HMMPfam_Gla,superfamily_VitK_dep_GLA,PatternScan_GLA_1" "HMMSmart_GLA,HMMPfam_Gla,superfamily_VitK_dep_GLA,PatternScan_GLA_1" - no_errors PTPRO 5800 genome.wustl.edu 36 12 15545856 15545856 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 15545856 15545856 G A SNP PTPRO NM_030667 human genbank 54_36p 1 reviewed missense c.697 p.V233I 0.98 NULL "superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors PTPRO 5800 genome.wustl.edu 36 12 15552818 15552818 + Silent SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 15552818 15552818 C T SNP PTPRO NM_030667 human genbank 54_36p 1 reviewed silent c.1314 p.H438 0.97 "HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III" "HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors FBXL14 144699 genome.wustl.edu 36 12 1572492 1572492 + Silent SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 1572492 1572492 C T SNP FBXL14 NM_152441 human genbank 54_36p -1 validated silent c.1002 p.T334 1 superfamily_SSF52047 "superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52047" - no_errors EPS8 2059 genome.wustl.edu 36 12 15727127 15727127 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 15727127 15727127 G T SNP EPS8 NM_004447 human genbank 54_36p -1 reviewed missense c.26 p.P9H 1 NULL "HMMSmart_PTB,superfamily_SSF50729,HMMPfam_PTB,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3" - no_errors SUPT16HP 400011 genome.wustl.edu 36 12 16444344 16444344 + RNA SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 16444344 16444344 G A SNP LOC400011 XR_016968 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene SLC6A12 6539 genome.wustl.edu 36 12 184122 184122 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 184122 184122 G T SNP SLC6A12 NM_003044 human genbank 54_36p -1 validated missense c.218 p.A73D 1 PatternScan_NA_NEUROTRAN_SYMP_1 "PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2" - no_errors CACNA2D4 93589 genome.wustl.edu 36 12 1866479 1866479 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 1866479 1866479 C A SNP CACNA2D4 NM_172364 human genbank 54_36p -1 reviewed missense c.799 p.D267Y 1 NULL "HMMPfam_VWA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Cache_1" - no_errors PLCZ1 89869 genome.wustl.edu 36 12 18727493 18727493 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 18727493 18727493 C A SNP PLCZ1 NM_033123 human genbank 54_36p -1 provisional missense c.1774 p.G592C 0.1 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) "superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors LOC643668 643668 genome.wustl.edu 36 12 18737273 18737273 + RNA SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 18737273 18737273 G C SNP LOC643668 XR_016986 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC643668 643668 genome.wustl.edu 36 12 18738165 18738165 + RNA SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 18738165 18738165 G A SNP LOC643668 XR_016986 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene PLEKHA5 54477 genome.wustl.edu 36 12 19410169 19410169 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 19410169 19410169 C G SNP PLEKHA5 NM_019012 human genbank 54_36p 1 validated missense c.3115 p.Q1039E 0.11 NULL "superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors PLEKHA5 54477 genome.wustl.edu 36 12 19414000 19414000 + Splice_Site SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 19414000 19414000 G C SNP PLEKHA5 NM_019012 human genbank 54_36p 1 validated splice_site c.3351+1 e25+1 1 - - - no_errors PDE3A 5139 genome.wustl.edu 36 12 20694658 20694658 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 20694658 20694658 G T SNP PDE3A NM_000921 human genbank 54_36p 1 validated missense c.2782 p.V928F 0.07 "superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I" "superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors SLCO1C1 53919 genome.wustl.edu 36 12 20777247 20777247 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 20777247 20777247 C G SNP SLCO1C1 NM_017435 human genbank 54_36p 1 reviewed missense c.1324 p.L442V 0.78 "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP" "superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2" - no_errors SLCO1C1 53919 genome.wustl.edu 36 12 20781364 20781364 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 20781364 20781364 G A SNP SLCO1C1 NM_017435 human genbank 54_36p 1 reviewed missense c.1439 p.C480Y 1 "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" - no_errors SLCO1C1 53919 genome.wustl.edu 36 12 20781415 20781416 + Missense_Mutation DNP CA CA AG novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 CA CA CA AG CA CA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 20781415 20781416 CA AG DNP SLCO1C1 NM_017435 human genbank 54_36p 1 reviewed missense c.1490_1491 p.T497K 0.999:0.845 "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" - no_errors CACNA1C 775 genome.wustl.edu 36 12 2094813 2094813 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 2094813 2094813 C A SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.212 p.A71E 0.96 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ" - no_errors SLCO1B1 10599 genome.wustl.edu 36 12 21185846 21185846 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21185846 21185846 G T SNP SLCO1B1 NM_006446 human genbank 54_36p 1 reviewed missense c.71 p.C24F 0.63 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2" - no_errors SLCO1B1 10599 genome.wustl.edu 36 12 21221096 21221096 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 21221096 21221096 A T SNP SLCO1B1 NM_006446 human genbank 54_36p 1 reviewed missense c.479 p.K160I 0.63 "HMMPfam_OATP,superfamily_MFS general substrate transporter" "HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors" - no_errors SLCO1B1 10599 genome.wustl.edu 36 12 21250089 21250089 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21250089 21250089 A T SNP SLCO1B1 NM_006446 human genbank 54_36p 1 reviewed missense c.1352 p.H451L 0.01 "HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors" "HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors" - no_errors SLCO1A2 6579 genome.wustl.edu 36 12 21344736 21344736 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21344736 21344736 C T SNP SLCO1A2 NM_021094 human genbank 54_36p -1 reviewed nonsense c.723 p.W241* 1 "superfamily_MFS general substrate transporter,HMMPfam_OATP" "superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2" - no_errors SLCO1A2 6579 genome.wustl.edu 36 12 21363579 21363579 + Silent SNP C C T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21363579 21363579 C T SNP SLCO1A2 ENST00000390670 human ensembl 54_36p -1 known silent c.48 p.S16 0 superfamily_MFS_gen_substrate_transporter "HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895" - no_errors PYROXD1 79912 genome.wustl.edu 36 12 21507026 21507026 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21507026 21507026 G C SNP PYROXD1 NM_024854 human genbank 54_36p 1 validated missense c.1079 p.C360S 1 "HMMPfam_Pyr_redox_2,superfamily_SSF51905" "HMMPfam_Pyr_redox_2,superfamily_SSF51905" - no_errors LDHB 3945 genome.wustl.edu 36 12 21688176 21688176 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21688176 21688176 C G SNP LDHB NM_002300 human genbank 54_36p -1 validated missense c.381 p.K127N 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N,superfamily_LDH C-terminal domain-like,HMMPfam_Ldh_1_C,PatternScan_L_LDH" - no_errors KCNJ8 3764 genome.wustl.edu 36 12 21810804 21810804 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 21810804 21810804 A G SNP KCNJ8 NM_004982 human genbank 54_36p -1 reviewed missense c.395 p.L132P 1 "HMMPfam_IRK,superfamily_SSF81324" "HMMPfam_IRK,superfamily_SSF81324,superfamily_Ig_E-set" - no_errors ABCC9 10060 genome.wustl.edu 36 12 21845258 21845258 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 21845258 21845258 C T SNP ABCC9 NM_020297 human genbank 54_36p -1 reviewed missense c.4637 p.R1546H 1 superfamily_SSF52540 "superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors CMAS 55907 genome.wustl.edu 36 12 22105655 22105655 + Splice_Site SNP T T G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 22105655 22105655 T G SNP CMAS NM_018686 human genbank 54_36p 1 reviewed splice_site c.960+2 e6+2 1 - - - no_errors KIAA0528 9847 genome.wustl.edu 36 12 22513988 22513988 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 22513988 22513988 C G SNP KIAA0528 NM_014802 human genbank 54_36p -1 predicted missense c.2455 p.D819H 1 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" - no_errors SOX5 6660 genome.wustl.edu 36 12 23578429 23578429 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 23578429 23578429 T A SNP SOX5 NM_006940 human genbank 54_36p -1 reviewed missense c.2283 p.Q761H 1 NULL "PatternScan_TONB_DEPENDENT_REC_1,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box" - no_errors SOX5 6660 genome.wustl.edu 36 12 23785168 23785168 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 23785168 23785168 T A SNP SOX5 NM_006940 human genbank 54_36p -1 reviewed missense c.641 p.E214V 1 NULL "HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box,PatternScan_TONB_DEPENDENT_REC_1" - no_errors CACNA1C 775 genome.wustl.edu 36 12 2483928 2483928 + Silent SNP C C A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 2483928 2483928 C A SNP CACNA1C ENST00000399634 human ensembl 54_36p 1 known silent c.1179 p.S393 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors KRAS 3845 genome.wustl.edu 36 12 25289551 25289551 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 25289551 25289551 C A SNP KRAS NM_033360 human genbank 54_36p -1 reviewed missense c.35 p.G12V 1 "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" "HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors IFLTD1 160492 genome.wustl.edu 36 12 25570406 25570406 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 25570406 25570406 G A SNP IFLTD1 NM_152590 human genbank 54_36p -1 validated missense c.629 p.A210V 0.4 "superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail" "superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail" - no_errors ITPR2 3709 genome.wustl.edu 36 12 26455589 26455589 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 26455589 26455589 T A SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.7330 p.T2444S 0.6 HMMPfam_Ion_trans "HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans" - no_errors ITPR2 3709 genome.wustl.edu 36 12 26463359 26463359 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 26463359 26463359 T G SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.7000 p.T2334P 1 HMMPfam_Ion_trans "HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2" - no_errors CACNA1C 775 genome.wustl.edu 36 12 2658874 2658874 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 2658874 2658874 G T SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.5095 p.A1699S 1 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors CACNA1C 775 genome.wustl.edu 36 12 2659073 2659073 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 2659073 2659073 C A SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.5294 p.A1765D 1 NULL "HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels" - no_errors ITPR2 3709 genome.wustl.edu 36 12 26646683 26646683 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 26646683 26646683 G T SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.3565 p.L1189I 1 HMMPfam_RYDR_ITPR "HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2" - no_errors ITPR2 3709 genome.wustl.edu 36 12 26876940 26876940 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 26876940 26876940 G C SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.42 p.I14M 1 HMMPfam_Ins145_P3_rec "HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2" - no_errors C12orf11 55726 genome.wustl.edu 36 12 26980898 26980898 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 26980898 26980898 T C SNP C12orf11 NM_018164 human genbank 54_36p -1 validated missense c.106 p.N36D 1 HMMPfam_DUF2151 HMMPfam_DUF2151 - no_errors STK38L 23012 genome.wustl.edu 36 12 27353314 27353314 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 27353314 27353314 G C SNP STK38L NM_015000 human genbank 54_36p 1 validated missense c.310 p.V104L 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors ARNTL2 56938 genome.wustl.edu 36 12 27444781 27444781 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 27444781 27444781 T C SNP ARNTL2 NM_020183 human genbank 54_36p 1 provisional missense c.967 p.W323R 1 NULL "superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3" - no_errors REP15 387849 genome.wustl.edu 36 12 27740817 27740817 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 27740817 27740817 G A SNP REP15 NM_001029874 human genbank 54_36p 1 provisional missense c.55 p.V19I 0 NULL NULL - no_errors OVCH1 341350 genome.wustl.edu 36 12 29483541 29483541 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 29483541 29483541 C A SNP OVCH1 NM_183378 human genbank 54_36p -1 validated missense c.3251 p.W1084L 0 NULL "superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042" - no_errors OVCH1 341350 genome.wustl.edu 36 12 29488472 29488472 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 29488472 29488472 C T SNP OVCH1 NM_183378 human genbank 54_36p -1 validated missense c.2890 p.D964N 0.01 NULL "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors OVCH1 341350 genome.wustl.edu 36 12 29539634 29539634 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 29539634 29539634 A G SNP OVCH1 NM_183378 human genbank 54_36p -1 validated missense c.305 p.V102A 0.58 "HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases" "HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors TSPAN9 10867 genome.wustl.edu 36 12 3257869 3257869 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 3257869 3257869 G T SNP TSPAN9 NM_006675 human genbank 54_36p 1 reviewed nonsense c.85 p.G29* 1 HMMPfam_Tetraspannin "HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin" - no_errors FGD4 121512 genome.wustl.edu 36 12 32626657 32626657 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 32626657 32626657 C T SNP FGD4 NM_139241 human genbank 54_36p 1 reviewed missense c.589 p.H197Y 0 superfamily_DBL homology domain (DH-domain) "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors DNM1L 10059 genome.wustl.edu 36 12 32775673 32775673 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 32775673 32775673 G T SNP DNM1L NM_012062 human genbank 54_36p 1 reviewed missense c.1317 p.M439I 1 HMMPfam_Dynamin_M "HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,HMMPfam_GED,HMMSmart_SM00302" - no_errors SYT10 341359 genome.wustl.edu 36 12 33470699 33470699 + Splice_Site SNP T T C novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 33470699 33470699 T C SNP SYT10 NM_198992 human genbank 54_36p -1 provisional splice_site c.152-2 e2-2 1 - - - no_errors PRMT8 56341 genome.wustl.edu 36 12 3556325 3556325 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 3556325 3556325 T G SNP PRMT8 NM_019854 human genbank 54_36p 1 validated missense c.740 p.M247R 1 superfamily_S-adenosyl-L-methionine-dependent methyltransferases "superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_HSP70_2" - no_errors EFCAB4B 84766 genome.wustl.edu 36 12 3639045 3639045 + Silent SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 3639045 3639045 G T SNP EFCAB4B NM_032680 human genbank 54_36p -1 validated silent c.708 p.L236 0.96 NULL "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1" - no_errors PARP11 57097 genome.wustl.edu 36 12 3791822 3791822 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 3791822 3791822 T C SNP PARP11 NM_020367 human genbank 54_36p -1 validated missense c.724 p.K242E 1 "superfamily_ADP-ribosylation,HMMPfam_PARP" "HMMPfam_WWE,superfamily_ADP-ribosylation,HMMPfam_PARP" - no_errors KIF21A 55605 genome.wustl.edu 36 12 37981704 37981704 + Silent SNP C C A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 37981704 37981704 C A SNP KIF21A NM_017641 human genbank 54_36p -1 validated silent c.4737 p.V1579 0.19 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40 repeat-like,superfamily_Prefoldin,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors KIF21A 55605 genome.wustl.edu 36 12 37989745 37989745 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 37989745 37989745 C T SNP KIF21A NM_017641 human genbank 54_36p -1 validated missense c.4148 p.C1383Y 0.95 "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" "HMMSmart_SM00320,HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_Prefoldin,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors KIF21A 55605 genome.wustl.edu 36 12 38012445 38012445 + Silent SNP T T C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38012445 38012445 T C SNP KIF21A NM_017641 human genbank 54_36p -1 validated silent c.2850 p.K950 0.89 superfamily_WD40 repeat-like "HMMSmart_SM00320,HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_Prefoldin,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors C12orf40 283461 genome.wustl.edu 36 12 38364950 38364950 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38364950 38364950 C T SNP C12orf40 NM_001031748 human genbank 54_36p 1 validated missense c.1301 p.S434L 0.25 NULL NULL - no_errors SLC2A13 114134 genome.wustl.edu 36 12 38510252 38510252 + Nonsense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38510252 38510252 G T SNP SLC2A13 NM_052885 human genbank 54_36p -1 validated nonsense c.1308 p.Y436* 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr" "superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors LRRK2 120892 genome.wustl.edu 36 12 38974960 38974960 + Missense_Mutation SNP T T C novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38974960 38974960 T C SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.2855 p.I952T 0.66 superfamily_SSF52058 "superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2" - no_errors LRRK2 120892 genome.wustl.edu 36 12 38985923 38985923 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 38985923 38985923 T A SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.3847 p.S1283T 1 "HMMPfam_LRR_1,superfamily_SSF52058" "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors LRRK2 120892 genome.wustl.edu 36 12 39031692 39031692 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 39031692 39031692 G T SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.6466 p.V2156F 1 superfamily_WD40_like "PatternScan_RCC1_2,HMMPfam_LRR_1,HMMSmart_WD40,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,superfamily_WD40_like,HMMPfam_Miro,superfamily_ARM-type_fold,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52058,superfamily_SSF52540" - no_errors CNTN1 1272 genome.wustl.edu 36 12 39705370 39705370 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 39705370 39705370 C A SNP CNTN1 NM_001843 human genbank 54_36p 1 reviewed missense c.2675 p.P892Q 1 "superfamily_Fibronectin type III,HMMPfam_fn3" "superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,PatternScan_N6_MTASE,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors PDZRN4 29951 genome.wustl.edu 36 12 40252756 40252756 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 40252756 40252756 G T SNP PDZRN4 NM_013377 human genbank 54_36p 1 validated missense c.1134 p.K378N 1 NULL "superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors PRICKLE1 144165 genome.wustl.edu 36 12 41144824 41144824 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 41144824 41144824 G C SNP PRICKLE1 NM_153026 human genbank 54_36p -1 validated missense c.1279 p.L427V 1 NULL "HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42103950 42103950 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42103950 42103950 C G SNP ADAMTS20 ENST00000389417 human ensembl 54_36p -1 known missense c.4332 p.L1444F 0 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42107469 42107469 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42107469 42107469 G C SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated missense c.4016 p.A1339G 1 "superfamily_TSP-1 type 1 repeat,HMMPfam_TSP_1,HMMSmart_SM00209" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42112378 42112378 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42112378 42112378 C T SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated missense c.3092 p.S1031N 1 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_GON,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42132705 42132705 + Silent SNP A A G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42132705 42132705 A G SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated silent c.1821 p.T607 1 "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_GON,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42134112 42134112 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42134112 42134112 T G SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated missense c.1625 p.H542P 1 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_GON,superfamily_Metalloproteases (zincins) catalytic domain" - no_errors LOC401717 401717 genome.wustl.edu 36 12 42341041 42341041 + RNA SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 42341041 42341041 C T SNP LOC401717 XR_016218 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene FGF23 8074 genome.wustl.edu 36 12 4349937 4349937 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 4349937 4349937 C T SNP FGF23 NM_020638 human genbank 54_36p -1 reviewed missense c.589 p.A197T 0.26 NULL "PatternScan_HBGF_FGF,superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF" - no_errors ARID2 196528 genome.wustl.edu 36 12 44519445 44519445 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44519445 44519445 A C SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.1397 p.K466T 1 NULL "HMMPfam_ARID,superfamily_ARID-like,HMMSmart_SM00501,superfamily_Winged helix DNA-binding domain,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ARID2 196528 genome.wustl.edu 36 12 44530398 44530398 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44530398 44530398 C T SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.2225 p.S742F 1 NULL "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Winged helix DNA-binding domain" - no_errors ARID2 196528 genome.wustl.edu 36 12 44531669 44531669 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44531669 44531669 G C SNP ARID2 NM_152641 human genbank 54_36p 1 validated missense c.3496 p.G1166R 1 NULL "HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Winged helix DNA-binding domain" - no_errors SRSF2IP 9169 genome.wustl.edu 36 12 44607946 44607946 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44607946 44607946 G C SNP SFRS2IP NM_004719 human genbank 54_36p -1 validated missense c.1805 p.T602R 0.03 NULL "superfamily_RING/U-box,HMMSmart_SM00184,PatternScan_ZF_RING_1" - no_errors SLC38A1 81539 genome.wustl.edu 36 12 44881235 44881235 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 44881235 44881235 T C SNP SLC38A1 NM_001077484 human genbank 54_36p -1 validated missense c.916 p.K306E 1 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors NDUFA9 4704 genome.wustl.edu 36 12 4633733 4633733 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 4633733 4633733 G T SNP NDUFA9 NM_005002 human genbank 54_36p 1 provisional missense c.64 p.A22S 0.07 NULL "superfamily_NAD(P)-bd,HMMPfam_Epimerase" - no_errors COL2A1 1280 genome.wustl.edu 36 12 46672951 46672951 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 46672951 46672951 G A SNP COL2A1 NM_001844 human genbank 54_36p -1 reviewed missense c.1000 p.R334W 1 HMMPfam_Collagen "HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI" - no_errors OR10AD1 121275 genome.wustl.edu 36 12 46882923 46882923 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 46882923 46882923 C G SNP OR10AD1 NM_001004134 human genbank 54_36p -1 provisional missense c.420 p.K140N 0.63 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ANP32D 23519 genome.wustl.edu 36 12 47153049 47153051 + In_Frame_Del DEL TAG TAG - novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 TAG TAG TAG - TAG TAG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 47153049 47153051 TAG - DEL ANP32D NM_012404 human genbank 54_36p 1 reviewed in_frame_del c.335_337 p.LENLE112in_frame_del* 1.000:1.000:1.000 superfamily_SSF52075 superfamily_SSF52075 "(deletion:cds_exon[47152715,47153110])" no_errors C12orf41 54934 genome.wustl.edu 36 12 47351980 47351980 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 47351980 47351980 G A SNP C12orf41 NM_017822 human genbank 54_36p -1 validated missense c.578 p.A193V 1 NULL NULL - no_errors CCNT1 904 genome.wustl.edu 36 12 47374183 47374183 + Frame_Shift_Del DEL C C - novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C - C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 47374183 47374183 C - DEL CCNT1 NM_001240 human genbank 54_36p -1 reviewed frame_shift_del c.1081 p.D361fs 0.99 NULL "PatternScan_CYCLINS,superfamily_Cyclin_like,HMMPfam_Cyclin_N,HMMSmart_CYCLIN" "(deletion:cds_exon[47373083,47374486])" no_errors DDX23 9416 genome.wustl.edu 36 12 47513508 47513508 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 47513508 47513508 C A SNP DDX23 NM_004818 human genbank 54_36p -1 reviewed missense c.1622 p.S541I 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C" - no_errors TROAP 10024 genome.wustl.edu 36 12 48010613 48010613 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48010613 48010613 A G SNP TROAP NM_005480 human genbank 54_36p 1 validated missense c.1718 p.E573G 0.02 NULL NULL - no_errors FAIM2 23017 genome.wustl.edu 36 12 48569235 48569235 + Silent SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48569235 48569235 G A SNP FAIM2 NM_012306 human genbank 54_36p -1 validated silent c.669 p.C223 1 HMMPfam_UPF0005 HMMPfam_UPF0005 - no_errors AQP2 100131403 genome.wustl.edu 36 12 48631219 48631219 + Missense_Mutation SNP C T T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48631219 48631219 C T SNP LOC100131403 XM_001718330 human genbank 54_36p -1 model missense c.511 p.A171T 0.86 NULL NULL - no_errors SMARCD1 6602 genome.wustl.edu 36 12 48778839 48778839 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48778839 48778839 G A SNP SMARCD1 NM_003076 human genbank 54_36p 1 reviewed missense c.1468 p.A490T 1 NULL "superfamily_SWIB/MDM2 domain,HMMPfam_SWIB,HMMSmart_SM00151" - no_errors LIMA1 51474 genome.wustl.edu 36 12 48928777 48928777 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 48928777 48928777 G A SNP LIMA1 NM_016357 human genbank 54_36p -1 validated missense c.25 p.R9W 1 NULL "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors LARP4 113251 genome.wustl.edu 36 12 49147018 49147018 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 49147018 49147018 C T SNP LARP4 NM_199188 human genbank 54_36p 1 validated missense c.1411 p.P471S 0.26 NULL "superfamily_SSF46785,HMMSmart_LA,HMMPfam_La,HMMSmart_RRM" - no_errors ATF1 466 genome.wustl.edu 36 12 49489522 49489522 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 49489522 49489522 T A SNP ATF1 NM_005171 human genbank 54_36p 1 validated missense c.211 p.L71I 1 HMMPfam_pKID "HMMPfam_pKID,HMMSmart_BRLZ,HMMPfam_bZIP_1,PatternScan_BZIP_BASIC" - no_errors BIN2 51411 genome.wustl.edu 36 12 49982775 49982775 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 49982775 49982775 C T SNP BIN2 NM_016293 human genbank 54_36p -1 validated missense c.274 p.E92K 1 "HMMSmart_SM00721,HMMPfam_BAR" "HMMSmart_SM00721,HMMPfam_BAR" - no_errors KCNA5 3741 genome.wustl.edu 36 12 5024132 5024132 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 5024132 5024132 G A SNP KCNA5 NM_002234 human genbank 54_36p 1 reviewed silent c.558 p.R186 0.98 "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra" "superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors KCNA5 3741 genome.wustl.edu 36 12 5024759 5024759 + Silent SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 5024759 5024759 C A SNP KCNA5 NM_002234 human genbank 54_36p 1 reviewed silent c.1185 p.S395 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,superfamily_Voltage-gated potassium channels" - no_errors SCN8A 6334 genome.wustl.edu 36 12 50386588 50386588 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 50386588 50386588 A G SNP SCN8A NM_014191 human genbank 54_36p 1 validated missense c.1457 p.K486R 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_ODR_DC_2_1,HMMSmart_SM00015,HMMPfam_IQ" - no_errors SCN8A 6334 genome.wustl.edu 36 12 50401778 50401778 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 50401778 50401778 G A SNP SCN8A NM_014191 human genbank 54_36p 1 validated missense c.1817 p.R606Q 1 NULL "HMMPfam_IQ,HMMSmart_SM00015,PatternScan_ODR_DC_2_1,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors SCN8A 6334 genome.wustl.edu 36 12 50431564 50431564 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 50431564 50431564 G A SNP SCN8A NM_014191 human genbank 54_36p 1 validated missense c.2290 p.V764I 1 superfamily_Voltage-gated potassium channels "HMMPfam_IQ,HMMSmart_SM00015,PatternScan_ODR_DC_2_1,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels" - no_errors ANKRD33 341405 genome.wustl.edu 36 12 50570999 50570999 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 50570999 50570999 G A SNP ANKRD33 NM_182608 human genbank 54_36p 1 validated silent c.1002 p.S334 0 NULL "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors KRT86 3892 genome.wustl.edu 36 12 50985326 50985326 + Silent SNP C C A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 50985326 50985326 C A SNP KRT86 NM_002284 human genbank 54_36p 1 reviewed silent c.771 p.T257 0.99 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT6B 3854 genome.wustl.edu 36 12 51131903 51131903 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51131903 51131903 C G SNP KRT6B NM_005555 human genbank 54_36p -1 reviewed missense c.227 p.S76T 0.99 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT6A 3853 genome.wustl.edu 36 12 51173148 51173148 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51173148 51173148 G C SNP KRT6A NM_005554 human genbank 54_36p -1 reviewed missense c.92 p.S31C 0.15 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT71 112802 genome.wustl.edu 36 12 51228750 51228763 + Splice_Site DEL ACGGCTTCAAAGAG ACGGCTTCAAAGAG - novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 ACGGCTTCAAAGAG ACGGCTTCAAAGAG ACGGCTTCAAAGAG - ACGGCTTCAAAGAG ACGGCTTCAAAGAG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51228750 51228763 ACGGCTTCAAAGAG - DEL KRT71 NM_033448 human genbank 54_36p -1 provisional splice_site_del c.813+13_813+1 e5-1 0.983:0.945:0.004:0.005:0.095:0.245:0.879:0.900:0.854:0.843:0.978:0.982:0.978:0.569 - - "(deletion:intron[51228368,51228751], cds_exon[51228752,51228847])" no_errors KRT74 121391 genome.wustl.edu 36 12 51248285 51248285 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51248285 51248285 G A SNP KRT74 NM_175053 human genbank 54_36p -1 validated silent c.1290 p.S430 0.84 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT72 140807 genome.wustl.edu 36 12 51267752 51267752 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51267752 51267752 C T SNP KRT72 NM_080747 human genbank 54_36p -1 provisional missense c.1240 p.V414M 0.97 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT73 319101 genome.wustl.edu 36 12 51293740 51293740 + Missense_Mutation SNP T T G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51293740 51293740 T G SNP KRT73 NM_175068 human genbank 54_36p -1 provisional missense c.983 p.K328T 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT2 3849 genome.wustl.edu 36 12 51325292 51325292 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51325292 51325292 G A SNP KRT2 NM_000423 human genbank 54_36p -1 reviewed silent c.1698 p.G566 0.99 NULL "HMMPfam_Filament,PatternScan_IF" - no_errors KRT2 3849 genome.wustl.edu 36 12 51327830 51327830 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51327830 51327830 T C SNP KRT2 NM_000423 human genbank 54_36p -1 reviewed missense c.1199 p.N400S 1 HMMPfam_Filament "HMMPfam_Filament,PatternScan_IF" - no_errors KRT1 3848 genome.wustl.edu 36 12 51358657 51358657 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51358657 51358657 C T SNP KRT1 NM_006121 human genbank 54_36p -1 reviewed missense c.742 p.D248N 0.52 HMMPfam_Filament "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors LOC400036 400036 genome.wustl.edu 36 12 51411523 51411523 + RNA SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51411523 51411523 G A SNP LOC400036 XR_042304 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene KRT4 3851 genome.wustl.edu 36 12 51487226 51487226 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51487226 51487226 C A SNP KRT4 NM_002272 human genbank 54_36p -1 reviewed missense c.1679 p.S560I 0.95 NULL "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors KRT79 338785 genome.wustl.edu 36 12 51504354 51504354 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 51504354 51504354 G T SNP KRT79 NM_175834 human genbank 54_36p -1 validated missense c.915 p.N305K 1 "HMMPfam_Filament,superfamily_Prefoldin" "HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF" - no_errors ATF7 11016 genome.wustl.edu 36 12 52217576 52217576 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 52217576 52217576 G C SNP ATF7 NM_006856 human genbank 54_36p -1 validated missense c.292 p.L98V 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_ATPASE_ALPHA_BETA,HMMPfam_bZIP_1,HMMSmart_BRLZ,PatternScan_BZIP_BASIC" - no_errors HOXC4 3221 genome.wustl.edu 36 12 52734193 52734193 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 52734193 52734193 G C SNP HOXC4 NM_014620 human genbank 54_36p 1 reviewed missense c.220 p.G74R 1 NULL "PatternScan_ANTENNAPEDIA,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors HNRNPA1 3178 genome.wustl.edu 36 12 52961503 52961503 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 52961503 52961503 G A SNP HNRNPA1 NM_031157 human genbank 54_36p 1 reviewed missense c.82 p.E28K 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ITGA5 3678 genome.wustl.edu 36 12 53081716 53081716 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53081716 53081716 G C SNP ITGA5 NM_002205 human genbank 54_36p -1 reviewed missense c.2307 p.S769R 1 "HMMPfam_Integrin_alpha2,superfamily_SSF69179" "superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors NCKAP1L 3071 genome.wustl.edu 36 12 53216270 53216270 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53216270 53216270 C G SNP NCKAP1L NM_005337 human genbank 54_36p 1 reviewed missense c.3047 p.S1016C 0.34 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors KIAA0748 9840 genome.wustl.edu 36 12 53641242 53641242 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53641242 53641242 G T SNP KIAA0748 NM_001098815 human genbank 54_36p -1 validated missense c.1544 p.T515N 0 NULL NULL - no_errors NEUROD4 58158 genome.wustl.edu 36 12 53707449 53707449 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53707449 53707449 G T SNP NEUROD4 NM_021191 human genbank 54_36p 1 validated missense c.959 p.G320V 0.05 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors OR10A7 121364 genome.wustl.edu 36 12 53901770 53901770 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53901770 53901770 C T SNP OR10A7 NM_001005280 human genbank 54_36p 1 provisional missense c.695 p.T232I 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR10A7 121364 genome.wustl.edu 36 12 53901945 53901945 + Silent SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 53901945 53901945 C T SNP OR10A7 NM_001005280 human genbank 54_36p 1 provisional silent c.870 p.Y290 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR6C75 390323 genome.wustl.edu 36 12 54045559 54045559 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54045559 54045559 T A SNP OR6C75 NM_001005497 human genbank 54_36p 1 provisional missense c.398 p.I133N 0.79 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors ITGA7 3679 genome.wustl.edu 36 12 54373249 54373249 + Silent SNP G G A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54373249 54373249 G A SNP ITGA7 NM_002206 human genbank 54_36p -1 reviewed silent c.2655 p.G885 0.99 "HMMPfam_Integrin_alpha2,superfamily_Integrin domains" "superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha" - no_errors RDH5 5959 genome.wustl.edu 36 12 54404013 54404013 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54404013 54404013 G A SNP RDH5 NM_002905 human genbank 54_36p 1 reviewed missense c.646 p.E216K 1 superfamily_NAD(P)-bd "PatternScan_ADH_SHORT,superfamily_NAD(P)-bd,HMMPfam_adh_short" - no_errors DNAJC14 85406 genome.wustl.edu 36 12 54508469 54508469 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54508469 54508469 G A SNP DNAJC14 NM_032364 human genbank 54_36p -1 validated missense c.241 p.P81S 1 NULL "superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ" - no_errors MMP19 4327 genome.wustl.edu 36 12 54517349 54517351 + In_Frame_Del DEL AAC AAC - novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 AAC AAC AAC - AAC AAC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54517349 54517351 AAC - DEL MMP19 NM_002429 human genbank 54_36p -1 reviewed in_frame_del c.1265_1263 p.L421in_frame_del 1.000:1.000:0.983 "superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" "superfamily_PGBD-like,HMMPfam_PG_binding_1,HMMSmart_SM00235,HMMPfam_Peptidase_M10,superfamily_Metalloproteases (zincins) catalytic domain,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120" "(deletion:cds_exon[54517087,54517425])" no_errors DGKA 1606 genome.wustl.edu 36 12 54620413 54620413 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54620413 54620413 G T SNP DGKA NM_001345 human genbank 54_36p 1 reviewed missense c.847 p.D283Y 1 "superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" "superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045" - no_errors DGKA 1606 genome.wustl.edu 36 12 54620698 54620698 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54620698 54620698 G A SNP DGKA NM_001345 human genbank 54_36p 1 reviewed silent c.942 p.A314 0.21 "HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain" "HMMPfam_DAGK_acc,HMMSmart_SM00045,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMSmart_SM00054,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_Cysteine-rich domain" - no_errors DGKA 1606 genome.wustl.edu 36 12 54633437 54633437 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54633437 54633437 A T SNP DGKA NM_001345 human genbank 54_36p 1 reviewed missense c.2100 p.E700D 1 "HMMPfam_DAGK_acc,HMMSmart_SM00045" "HMMPfam_DAGK_acc,HMMSmart_SM00045,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMSmart_SM00054,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_Cysteine-rich domain" - no_errors IKZF4 64375 genome.wustl.edu 36 12 54703778 54703778 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54703778 54703778 C A SNP IKZF4 NM_022465 human genbank 54_36p 1 validated missense c.144 p.D48E 1 NULL "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors IKZF4 64375 genome.wustl.edu 36 12 54714800 54714800 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54714800 54714800 C G SNP IKZF4 NM_022465 human genbank 54_36p 1 validated missense c.1176 p.I392M 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_errors ERBB3 2065 genome.wustl.edu 36 12 54773433 54773433 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54773433 54773433 G A SNP ERBB3 NM_001982 human genbank 54_36p 1 reviewed missense c.1312 p.V438I 0.82 "superfamily_L domain-like,HMMPfam_Recep_L_domain" "superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMSmart_SM00261,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220" - no_errors ERBB3 2065 genome.wustl.edu 36 12 54781659 54781659 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54781659 54781659 T A SNP ERBB3 NM_001982 human genbank 54_36p 1 reviewed missense c.3582 p.D1194E 1 NULL "HMMPfam_Recep_L_domain,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),superfamily_L domain-like" - no_errors ESYT1 23344 genome.wustl.edu 36 12 54814394 54814394 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 54814394 54814394 C G SNP FAM62A NM_015292 human genbank 54_36p 1 provisional missense c.1547 p.A516G 0.84 "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors STAT2 6773 genome.wustl.edu 36 12 55031427 55031427 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55031427 55031427 A G SNP STAT2 NM_005419 human genbank 54_36p -1 reviewed missense c.857 p.V286A 0.04 "superfamily_STAT,HMMPfam_STAT_alpha" "superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,superfamily_STAT,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors TIMELESS 8914 genome.wustl.edu 36 12 55113600 55113600 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55113600 55113600 C G SNP TIMELESS NM_003920 human genbank 54_36p -1 validated missense c.355 p.A119P 1 HMMPfam_TIMELESS "HMMPfam_TIMELESS,HMMPfam_TIMELESS_C" - no_errors GLS2 27165 genome.wustl.edu 36 12 55151826 55151826 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55151826 55151826 G T SNP GLS2 NM_013267 human genbank 54_36p -1 reviewed missense c.1650 p.D550E 1 "superfamily_Ankyrin repeat,HMMPfam_Ank" "superfamily_beta-lactamase/transpeptidase-like,HMMPfam_Glutaminase,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors BAZ2A 11176 genome.wustl.edu 36 12 55295117 55295117 + Silent SNP T T C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55295117 55295117 T C SNP BAZ2A NM_013449 human genbank 54_36p -1 validated silent c.684 p.A228 1 NULL ############################################################################################################################################################################################################################################################### - no_errors ATP5B 506 genome.wustl.edu 36 12 55325235 55325235 + Silent SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55325235 55325235 C G SNP ATP5B NM_001686 human genbank 54_36p -1 reviewed silent c.297 p.V99 1 "superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase,HMMPfam_ATP-synt_ab_N" ############################################################################################################################################################################################################################################################### - no_errors NACA 4666 genome.wustl.edu 36 12 55393239 55393239 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55393239 55393239 G C SNP NACA NM_005594 human genbank 54_36p -1 validated missense c.384 p.I128M 0.86 HMMPfam_NAC "HMMPfam_NAC,HMMPfam_UBA" - no_errors NAB2 4665 genome.wustl.edu 36 12 55771786 55771786 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55771786 55771786 G A SNP NAB2 NM_005967 human genbank 54_36p 1 reviewed missense c.695 p.G232D 1 HMMPfam_NCD2 "HMMPfam_NCD1,HMMPfam_NCD2" - no_errors LRP1 4035 genome.wustl.edu 36 12 55857547 55857547 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55857547 55857547 C T SNP LRP1 NM_002332 human genbank 54_36p 1 validated missense c.4267 p.R1423C 0.62 "superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b" ############################################################################################################################################################################################################################################################### - no_errors R3HDM2 22864 genome.wustl.edu 36 12 55938093 55938093 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 55938093 55938093 A T SNP R3HDM2 NM_014925 human genbank 54_36p -1 validated missense c.1337 p.L446H 1 NULL NULL - no_errors GLI1 2735 genome.wustl.edu 36 12 56150686 56150686 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 56150686 56150686 T A SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed missense c.1896 p.N632K 0.78 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors GLI1 2735 genome.wustl.edu 36 12 56150700 56150700 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 56150700 56150700 G A SNP GLI1 NM_005269 human genbank 54_36p 1 reviewed missense c.1910 p.R637Q 1 NULL "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667" - no_errors MARS 4141 genome.wustl.edu 36 12 56194772 56194772 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 56194772 56194772 C T SNP MARS NM_004990 human genbank 54_36p 1 reviewed missense c.1970 p.A657V 1 "HMMPfam_tRNA-synt_1g,superfamily_tRNAsyn_1a_bind" "superfamily_GST_C_like,HMMPfam_GST_C,superfamily_SSF52374,HMMPfam_tRNA-synt_1g,PatternScan_AA_TRNA_LIGASE_I,superfamily_SSF57770,superfamily_tRNAsyn_1a_bind,superfamily_S15/NS1_bind,HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1" - no_errors OS9 10956 genome.wustl.edu 36 12 56398264 56398265 + Nonsense_Mutation DNP GA GA TT novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 56398264 56398265 GA TT DNP OS9 NM_006812 human genbank 54_36p 1 reviewed nonsense c.1203_1204 p.EKE401D* 0.035:0.194 NULL "HMMPfam_PRKCSH,superfamily_Mannose 6-phosphate receptor domain" - no_errors OS9 10956 genome.wustl.edu 36 12 56400183 56400183 + Silent SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12 56400183 56400183 C A SNP OS9 NM_006812 human genbank 54_36p 1 reviewed silent c.1635 p.V545 1 NULL "superfamily_Mannose 6-phosphate receptor domain,HMMPfam_PRKCSH" - no_errors LRIG3 121227 genome.wustl.edu 36 12 57560777 57560777 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 57560777 57560777 G C SNP LRIG3 NM_153377 human genbank 54_36p -1 provisional missense c.1654 p.L552V 1 "HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" "superfamily_RNI-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408" - no_errors ANO2 57101 genome.wustl.edu 36 12 5786740 5786740 + Silent SNP G G A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 5786740 5786740 G A SNP ANO2 NM_020373 human genbank 54_36p -1 validated silent c.939 p.D313 0.98 NULL HMMPfam_DUF590 - no_errors ANO2 57101 genome.wustl.edu 36 12 5833485 5833485 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 5833485 5833485 T G SNP ANO2 NM_020373 human genbank 54_36p -1 validated missense c.606 p.K202N 1 NULL HMMPfam_DUF590 - no_errors VWF 7450 genome.wustl.edu 36 12 6037406 6037406 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6037406 6037406 G A SNP VWF NM_000552 human genbank 54_36p -1 reviewed silent c.1599 p.D533 1 "HMMSmart_SM00216,HMMPfam_VWD" ############################################################################################################################################################################################################################################################### - no_errors FAM19A2 338811 genome.wustl.edu 36 12 60435001 60435001 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 60435001 60435001 C G SNP FAM19A2 NM_178539 human genbank 54_36p -1 reviewed missense c.178 p.E60Q 1 NULL NULL - no_errors PPM1H 57460 genome.wustl.edu 36 12 61374034 61374034 + Silent SNP G G A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 61374034 61374034 G A SNP PPM1H NM_020700 human genbank 54_36p -1 validated silent c.1086 p.T362 1 "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332" "superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00332,HMMPfam_PP2C" - no_errors SRGAP1 57522 genome.wustl.edu 36 12 62789063 62789063 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 62789063 62789063 A G SNP SRGAP1 NM_020762 human genbank 54_36p 1 validated missense c.1898 p.Y633C 1 "superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" "HMMPfam_FCH,HMMSmart_SM00055,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326" - no_errors TBK1 29110 genome.wustl.edu 36 12 63175583 63175583 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 63175583 63175583 A T SNP TBK1 NM_013254 human genbank 54_36p 1 reviewed missense c.1575 p.R525S 0.94 NULL "HMMPfam_Pkinase,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP" - no_errors WIF1 11197 genome.wustl.edu 36 12 63731445 63731445 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 63731445 63731445 T C SNP WIF1 NM_007191 human genbank 54_36p -1 reviewed missense c.1091 p.K364R 1 NULL "HMMSmart_WIF,HMMPfam_WIF,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF" - no_errors LOC729484 729484 genome.wustl.edu 36 12 64717396 64717396 + RNA SNP A A T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 64717396 64717396 A T SNP LOC729484 XR_016010 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene TMBIM4 51643 genome.wustl.edu 36 12 64832396 64832396 + Silent SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 64832396 64832396 G A SNP TMBIM4 NM_016056 human genbank 54_36p -1 validated silent c.234 p.L78 0.93 HMMPfam_UPF0005 HMMPfam_UPF0005 - no_errors GRIP1 23426 genome.wustl.edu 36 12 65143104 65143104 + Silent SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 65143104 65143104 G T SNP GRIP1 NM_021150 human genbank 54_36p -1 validated silent c.909 p.S303 1 "superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ" "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors NOP2 4839 genome.wustl.edu 36 12 6545552 6545552 + Silent SNP A C C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6545552 6545552 A C SNP NOP2 NM_001033714 human genbank 54_36p -1 validated silent c.438 p.S146 0 NULL "superfamily_SSF53335,HMMPfam_Nol1_Nop2_Fmu,PatternScan_NOL1_NOP2_SUN,HMMPfam_P120R" - no_errors CHD4 1108 genome.wustl.edu 36 12 6571444 6571444 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6571444 6571444 G A SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed missense c.2989 p.L997F 1 HMMPfam_SNF2_N ############################################################################################################################################################################################################################################################### - no_errors DYRK2 8445 genome.wustl.edu 36 12 66338143 66338143 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 66338143 66338143 G T SNP DYRK2 NM_006482 human genbank 54_36p 1 reviewed missense c.1189 p.A397S 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors MDM1 56890 genome.wustl.edu 36 12 67006998 67006998 + Silent SNP A A C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 67006998 67006998 A C SNP MDM1 NM_017440 human genbank 54_36p -1 reviewed silent c.204 p.S68 1 NULL NULL - no_errors LOC387867 387867 genome.wustl.edu 36 12 67233142 67233142 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 67233142 67233142 G T SNP LOC387867 XM_001726521 human genbank 54_36p -1 model missense c.788 p.P263H 1 NULL "superfamily_Ribosomal protein S2,PatternScan_RIBOSOMAL_S2_1,HMMPfam_Ribosomal_S2,PatternScan_RIBOSOMAL_S2_2" - pseudogene RAB3IP 117177 genome.wustl.edu 36 12 68419907 68419907 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 68419907 68419907 A C SNP RAB3IP NM_175623 human genbank 54_36p 1 validated missense c.14 p.K5T 0 NULL HMMPfam_Sec2p - no_errors LRRC23 10233 genome.wustl.edu 36 12 6893455 6893455 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6893455 6893455 C T SNP LRRC23 NM_006992 human genbank 54_36p 1 validated missense c.898 p.P300S 0 NULL "superfamily_SSF52058,HMMPfam_LRR_1" - no_errors ATN1 1822 genome.wustl.edu 36 12 6918599 6918599 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6918599 6918599 C T SNP ATN1 NM_001007026 human genbank 54_36p 1 reviewed missense c.3212 p.A1071V 1 HMMPfam_Atrophin-1 HMMPfam_Atrophin-1 - no_errors LPCAT3 10162 genome.wustl.edu 36 12 6957772 6957772 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 6957772 6957772 C G SNP LPCAT3 NM_005768 human genbank 54_36p -1 validated missense c.1032 p.W344C 1 HMMPfam_MBOAT HMMPfam_MBOAT - no_errors LGR5 8549 genome.wustl.edu 36 12 70264197 70264197 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 70264197 70264197 C A SNP LGR5 NM_003667 human genbank 54_36p 1 provisional missense c.2140 p.P714T 1 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_RNI-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors ZFC3H1 196441 genome.wustl.edu 36 12 70322513 70322513 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 70322513 70322513 T C SNP ZFC3H1 NM_144982 human genbank 54_36p -1 validated missense c.1597 p.M533V 1 NULL "HMMPfam_zf-C3H1,superfamily_Protein prenylyltransferase,HMMSmart_SM00386" - no_errors THAP2 83591 genome.wustl.edu 36 12 70344567 70344567 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 70344567 70344567 A G SNP THAP2 NM_031435 human genbank 54_36p 1 provisional missense c.11 p.N4S 1 HMMPfam_THAP "HMMPfam_THAP,HMMSmart_SM00692" - no_errors ACSM4 341392 genome.wustl.edu 36 12 7348231 7348231 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7348231 7348231 A T SNP ACSM4 NM_001080454 human genbank 54_36p 1 inferred missense c.37 p.I13F 0.02 NULL "superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors ACSM4 341392 genome.wustl.edu 36 12 7354409 7354409 + Silent SNP C C T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7354409 7354409 C T SNP ACSM4 NM_001080454 human genbank 54_36p 1 inferred silent c.420 p.I140 0.86 "HMMPfam_AMP-binding,superfamily_SSF56801" "HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_SSF56801" - no_errors CAPS2 84698 genome.wustl.edu 36 12 73962383 73962383 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 73962383 73962383 T G SNP CAPS2 NM_032606 human genbank 54_36p -1 validated missense c.888 p.K296N 1 superfamily_SSF47473 "superfamily_SSF47473,HMMSmart_EFh" - no_errors GLIPR1 11010 genome.wustl.edu 36 12 74170514 74170514 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 74170514 74170514 G T SNP GLIPR1 NM_006851 human genbank 54_36p 1 reviewed missense c.482 p.G161V 0.02 "superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP" "superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP,PatternScan_CRISP_1,PatternScan_CRISP_2" - no_errors KRR1 11103 genome.wustl.edu 36 12 74184022 74184022 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 74184022 74184022 G A SNP KRR1 NM_007043 human genbank 54_36p -1 validated missense c.760 p.R254C 1 NULL "HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1" - no_errors NAP1L1 4673 genome.wustl.edu 36 12 74733342 74733342 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 74733342 74733342 T G SNP NAP1L1 NM_004537 human genbank 54_36p -1 reviewed missense c.826 p.K276Q 1 HMMPfam_NAP HMMPfam_NAP - no_errors CD163L1 283316 genome.wustl.edu 36 12 7477386 7477386 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7477386 7477386 C T SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed missense c.296 p.R99H 0 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors CD163 9332 genome.wustl.edu 36 12 7542786 7542786 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7542786 7542786 T A SNP CD163 NM_004244 human genbank 54_36p -1 validated missense c.723 p.Q241H 0 "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR" "superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1" - no_errors CSRP2 1466 genome.wustl.edu 36 12 75776877 75776877 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 75776877 75776877 C A SNP CSRP2 NM_001321 human genbank 54_36p -1 reviewed missense c.568 p.V190F 1 superfamily_Glucocorticoid receptor-like (DNA-binding domain) "superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM" - no_errors NAV3 89795 genome.wustl.edu 36 12 77040268 77040268 + Silent SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 77040268 77040268 G A SNP NAV3 NM_014903 human genbank 54_36p 1 validated silent c.4167 p.L1389 1 NULL "superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382" - no_errors NAV3 89795 genome.wustl.edu 36 12 77106243 77106243 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 77106243 77106243 C T SNP NAV3 NM_014903 human genbank 54_36p 1 validated missense c.5809 p.R1937C 1 NULL "HMMPfam_CH,HMMSmart_SM00033,HMMSmart_SM00382,superfamily_Calponin-homology domain CH-domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors PPP1R12A 4659 genome.wustl.edu 36 12 78740067 78740067 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 78740067 78740067 A G SNP PPP1R12A NM_002480 human genbank 54_36p -1 reviewed missense c.827 p.I276T 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors MYF5 4617 genome.wustl.edu 36 12 79636345 79636345 + Splice_Site SNP T T G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 79636345 79636345 T G SNP MYF5 NM_005593 human genbank 54_36p 1 validated splice_site c.577+2 e2+2 1 - - - no_errors SLC2A3 6515 genome.wustl.edu 36 12 7977757 7977757 + Silent SNP T T C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 7977757 7977757 T C SNP SLC2A3 NM_006931 human genbank 54_36p -1 validated silent c.24 p.P8 0 superfamily_MFS general substrate transporter "superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1" - no_errors PPFIA2 8499 genome.wustl.edu 36 12 80271202 80271202 + Silent SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 80271202 80271202 T A SNP PPFIA2 NM_003625 human genbank 54_36p -1 reviewed silent c.1821 p.G607 1 NULL "superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2" - no_errors FOXJ2 55810 genome.wustl.edu 36 12 8091762 8091762 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 8091762 8091762 G A SNP FOXJ2 NM_018416 human genbank 54_36p 1 validated missense c.835 p.G279R 1 NULL "HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors TMTC2 160335 genome.wustl.edu 36 12 81605516 81605516 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 81605516 81605516 G T SNP TMTC2 NM_152588 human genbank 54_36p 1 provisional missense c.20 p.S7I 1 NULL "HMMPfam_DUF1736,superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,HMMPfam_TPR_2" - no_errors LRRIQ1 84125 genome.wustl.edu 36 12 83991003 83991003 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 83991003 83991003 G C SNP LRRIQ1 NM_001079910 human genbank 54_36p 1 validated missense c.2883 p.W961C 0.01 superfamily_RNI-like "superfamily_RNI-like,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors LRRIQ1 84125 genome.wustl.edu 36 12 84042150 84042150 + Silent SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 84042150 84042150 T C SNP LRRIQ1 NM_001079910 human genbank 54_36p 1 validated silent c.3729 p.T1243 0 NULL "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors RASSF9 9182 genome.wustl.edu 36 12 84723176 84723176 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 84723176 84723176 T A SNP RASSF9 NM_005447 human genbank 54_36p -1 reviewed missense c.743 p.D248V 0 NULL HMMSmart_SM00314 - no_errors MGAT4C 25834 genome.wustl.edu 36 12 84897722 84897722 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 84897722 84897722 T C SNP MGAT4C NM_013244 human genbank 54_36p -1 validated missense c.913 p.K305E 1 HMMPfam_Glyco_transf_54 HMMPfam_Glyco_transf_54 - no_errors CLEC4D 338339 genome.wustl.edu 36 12 8564164 8564165 + Missense_Mutation DNP TG TG GT novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 TG TG TG GT TG TG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 8564164 8564165 TG GT DNP CLEC4D NM_080387 human genbank 54_36p 1 reviewed missense c.460_461 p.W154V 0.853:0.839 "HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C" "PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C" - no_errors WNK1 65125 genome.wustl.edu 36 12 859035 859035 + Silent SNP C C A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 859035 859035 C A SNP WNK1 NM_018979 human genbank 54_36p 1 validated silent c.2409 p.G803 1 NULL "superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST" - no_errors WNK1 65125 genome.wustl.edu 36 12 859235 859235 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 12 859235 859235 C T SNP WNK1 NM_018979 human genbank 54_36p 1 validated missense c.2609 p.T870I 0.99 NULL "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors WNK1 65125 genome.wustl.edu 36 12 864283 864283 + Missense_Mutation SNP C C T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 864283 864283 C T SNP WNK1 NM_018979 human genbank 54_36p 1 validated missense c.4052 p.A1351V 0.07 NULL "PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors CEP290 80184 genome.wustl.edu 36 12 86978787 86978787 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 86978787 86978787 A G SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.6473 p.L2158S 0.61 NULL NULL - no_errors CEP290 80184 genome.wustl.edu 36 12 86989297 86989297 + Silent SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 86989297 86989297 A G SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed silent c.5916 p.D1972 1 NULL NULL - no_errors CEP290 80184 genome.wustl.edu 36 12 87001786 87001786 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 87001786 87001786 C A SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.4781 p.S1594I 1 NULL NULL - no_errors CEP290 80184 genome.wustl.edu 36 12 87029169 87029169 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 87029169 87029169 C A SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.2308 p.A770S 0.99 NULL NULL - no_errors ATP2B1 490 genome.wustl.edu 36 12 88519315 88519315 + Silent SNP T T C novel Unknown TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 88519315 88519315 T C SNP ATP2B1 NM_001682 human genbank 54_36p -1 reviewed silent c.3087 p.K1029 1 "superfamily_SSF81665,HMMPfam_Cation_ATPase_C" "HMMPfam_Cation_ATPase_N,superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Cation_ATPase_C" - no_errors DCN 1634 genome.wustl.edu 36 12 90082549 90082549 + Silent SNP G G T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 90082549 90082549 G T SNP DCN NM_001920 human genbank 54_36p -1 reviewed silent c.288 p.I96 1 "superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00369" "superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364" - no_errors MRPL42 28977 genome.wustl.edu 36 12 92405446 92405446 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 92405446 92405446 C G SNP MRPL42 NM_014050 human genbank 54_36p 1 reviewed missense c.262 p.H88D 1 HMMPfam_MRP-S32 HMMPfam_MRP-S32 - no_errors MRPL42 28977 genome.wustl.edu 36 12 92405485 92405485 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 92405485 92405485 G T SNP MRPL42 NM_014050 human genbank 54_36p 1 reviewed nonsense c.301 p.E101* 0 HMMPfam_MRP-S32 HMMPfam_MRP-S32 - no_errors PZP 5858 genome.wustl.edu 36 12 9246425 9246425 + Silent SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 9246425 9246425 G A SNP PZP NM_002864 human genbank 54_36p -1 validated silent c.390 p.V130 1 HMMPfam_A2M_N ############################################################################################################################################################################################################################################################### - no_errors PZP 5858 genome.wustl.edu 36 12 9246536 9246536 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 9246536 9246536 G C SNP PZP NM_002864 human genbank 54_36p -1 validated missense c.279 p.I93M 0 HMMPfam_A2M_N ############################################################################################################################################################################################################################################################### - no_errors PZP 5858 genome.wustl.edu 36 12 9247632 9247632 + Missense_Mutation SNP G G A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 9247632 9247632 G A SNP PZP NM_002864 human genbank 54_36p -1 validated missense c.266 p.T89I 1 HMMPfam_A2M_N ############################################################################################################################################################################################################################################################### - no_errors CRADD 8738 genome.wustl.edu 36 12 92596747 92596747 + Silent SNP G G T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 92596747 92596747 G T SNP CRADD NM_003805 human genbank 54_36p 1 reviewed silent c.66 p.V22 1 "HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD" "HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,HMMSmart_SM00005,HMMPfam_Death,PatternScan_IG_MHC" - no_errors PLXNC1 10154 genome.wustl.edu 36 12 93099437 93099437 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 93099437 93099437 G A SNP PLXNC1 NM_005761 human genbank 54_36p 1 provisional missense c.1288 p.V430I 0.52 superfamily_Sema "superfamily_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMPfam_TIG,HMMSmart_IPT,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP" - no_errors LOC400061 400061 genome.wustl.edu 36 12 93439105 93439105 + RNA SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 93439105 93439105 G A SNP LOC400061 XR_016608 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene NR2C1 7181 genome.wustl.edu 36 12 93969683 93969683 + Silent SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 93969683 93969683 G A SNP NR2C1 NM_003297 human genbank 54_36p -1 reviewed silent c.951 p.N317 0.33 superfamily_Nuclear receptor ligand-binding domain "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,PatternScan_SUBTILASE_ASP,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors FGD6 55785 genome.wustl.edu 36 12 94002491 94002491 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 94002491 94002491 C G SNP FGD6 NM_018351 human genbank 54_36p -1 validated missense c.4170 p.E1390D 0.99 "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1" - no_errors VEZT 55591 genome.wustl.edu 36 12 94218234 94218234 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 94218234 94218234 G C SNP VEZT NM_017599 human genbank 54_36p 1 validated missense c.1994 p.C665S 1 NULL NULL - no_errors HAL 3034 genome.wustl.edu 36 12 94894370 94894370 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 94894370 94894370 C G SNP HAL NM_002108 human genbank 54_36p -1 reviewed missense c.1801 p.E601Q 1 superfamily_L-Aspartase-like "superfamily_L-Aspartase-like,HMMPfam_PAL,PatternScan_PAL_HISTIDASE" - no_errors HAL 3034 genome.wustl.edu 36 12 94894533 94894533 + Silent SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 94894533 94894533 G A SNP HAL NM_002108 human genbank 54_36p -1 reviewed silent c.1737 p.V579 1 "HMMPfam_PAL,superfamily_L-Aspartase-like" "HMMPfam_PAL,PatternScan_PAL_HISTIDASE,superfamily_L-Aspartase-like" - no_errors ELK3 2004 genome.wustl.edu 36 12 95164924 95164924 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 95164924 95164924 C G SNP ELK3 NM_005230 human genbank 54_36p 1 reviewed missense c.283 p.P95A 1 superfamily_Winged helix DNA-binding domain "superfamily_Winged helix DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors SCYL2 55681 genome.wustl.edu 36 12 99232491 99232491 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99232491 99232491 G A SNP SCYL2 NM_017988 human genbank 54_36p 1 provisional missense c.1063 p.G355R 1 "superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat" "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,superfamily_ARM repeat" - no_errors SLC17A8 246213 genome.wustl.edu 36 12 99308981 99308981 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99308981 99308981 G A SNP SLC17A8 NM_139319 human genbank 54_36p 1 validated missense c.426 p.M142I 1 "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" "superfamily_MFS general substrate transporter,HMMPfam_MFS_1" - no_errors SLC17A8 246213 genome.wustl.edu 36 12 99338033 99338033 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99338033 99338033 C A SNP SLC17A8 NM_139319 human genbank 54_36p 1 validated missense c.1735 p.Q579K 1 NULL "HMMPfam_MFS_1,superfamily_MFS general substrate transporter" - no_errors NR1H4 9971 genome.wustl.edu 36 12 99454900 99454900 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99454900 99454900 C T SNP NR1H4 NM_005123 human genbank 54_36p 1 provisional missense c.863 p.T288M 1 superfamily_Nuclear receptor ligand-binding domain "HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep" - no_errors LOC728467 728467 genome.wustl.edu 36 12 99986406 99986406 + RNA SNP T T A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 12 99986406 99986406 T A SNP LOC728467 XR_015542 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ENSG00000218758 0 genome.wustl.edu 36 19 12219175 12219175 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 19 12219175 12219175 G C SNP ENSG00000218758 ENST00000393337 human ensembl 54_36p -1 known missense c.1261 p.P421A 0.7 superfamily_SSF57667 "HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_start_codon ENSG00000196703 0 genome.wustl.edu 36 11 123591505 123591505 + Nonsense_Mutation SNP T T G novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 11 123591505 123591505 T G SNP ENSG00000196703 ENST00000334412 human ensembl 54_36p 1 known nonsense c.873 p.Y291* 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_start_codon:no_stop_codon ENSG00000214298 0 genome.wustl.edu 36 10 126845421 126845421 + Silent SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 10 126845421 126845421 G T SNP ENSG00000214298 ENST00000398057 human ensembl 54_36p 1 known silent c.186 p.L62 1 NULL NULL - no_stop_codon LOC100128729 100128729 genome.wustl.edu 36 7 128005280 128005280 + RNA SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 7 128005280 128005280 G A SNP LOC100128729 XR_042327 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene LOC100131134 100131134 genome.wustl.edu 36 7 128280650 128280650 + Silent SNP T A A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 128280650 128280650 T A SNP LOC100131134 XM_001726492 human genbank 54_36p -1 model silent c.9 p.V3 0 NULL NULL - no_errors LOC100130883 100130883 genome.wustl.edu 36 3 129156 129156 + Silent SNP G C C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 129156 129156 G C SNP LOC100130883 XM_001714425 human genbank 54_36p -1 model silent c.384 p.L128 0.06 NULL NULL - no_start_codon:pseudogene:no_stop_codon ENSG00000205940 0 genome.wustl.edu 36 4 12948665 12948665 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 12948665 12948665 G T SNP ENSG00000205940 ENST00000382444 human ensembl 54_36p 1 known missense c.918 p.E306D 1 "HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold" "superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold" - no_stop_codon:bad_bp_length_for_coding_region TMTC4 84899 genome.wustl.edu 36 13 100085302 100085302 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100085302 100085302 G C SNP TMTC4 NM_032813 human genbank 54_36p -1 validated missense c.1351 p.L451V 0.14 NULL "HMMPfam_DUF1736,superfamily_TPR-like,HMMPfam_TPR_2,HMMSmart_SM00028,HMMPfam_TPR_1" - no_errors NALCN 259232 genome.wustl.edu 36 13 100512349 100512349 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100512349 100512349 A G SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.4727 p.L1576P 1 NULL "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" - no_errors NALCN 259232 genome.wustl.edu 36 13 100512443 100512443 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100512443 100512443 G A SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.4633 p.R1545W 1 NULL "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors NALCN 259232 genome.wustl.edu 36 13 100515868 100515868 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100515868 100515868 C T SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.4493 p.R1498H 1 NULL "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors NALCN 259232 genome.wustl.edu 36 13 100533220 100533220 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100533220 100533220 G T SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.3706 p.P1236T 1 superfamily_Voltage-gated potassium channels "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors NALCN 259232 genome.wustl.edu 36 13 100742594 100742594 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 13 100742594 100742594 G T SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.924 p.F308L 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors NALCN 259232 genome.wustl.edu 36 13 100828997 100828997 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 100828997 100828997 A C SNP NALCN NM_052867 human genbank 54_36p -1 validated missense c.300 p.S100R 1 "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" "HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels" - no_errors ITGBL1 9358 genome.wustl.edu 36 13 101018076 101018076 + Silent SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 101018076 101018076 G A SNP ITGBL1 NM_004791 human genbank 54_36p 1 provisional silent c.342 p.K114 1 "superfamily_SSF57196,HMMPfam_EGF_2,PatternScan_INTEGRIN_BETA" "HMMPfam_EGF_2,PatternScan_INTEGRIN_BETA,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF" - no_errors TPP2 7174 genome.wustl.edu 36 13 102078242 102078242 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 102078242 102078242 G C SNP TPP2 NM_003291 human genbank 54_36p 1 reviewed missense c.983 p.S328T 1 "superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8" "PatternScan_SUBTILASE_ASP,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER" - no_errors ERCC5 2073 genome.wustl.edu 36 13 102308654 102308654 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 102308654 102308654 T C SNP ERCC5 NM_000123 human genbank 54_36p 1 reviewed missense c.557 p.I186T 0.98 superfamily_PIN domain-like "HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279" - no_errors ERCC5 2073 genome.wustl.edu 36 13 102326188 102326188 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 102326188 102326188 C T SNP ERCC5 NM_000123 human genbank 54_36p 1 reviewed silent c.3495 p.A1165 1 NULL "HMMPfam_XPG_N,HMMSmart_SM00485,HMMPfam_XPG_I,HMMSmart_SM00484,PatternScan_XPG_2,HMMSmart_SM00279,PatternScan_XPG_1,superfamily_5' to 3' exonuclease C-terminal subdomain,superfamily_PIN domain-like" - no_errors SLC10A2 6555 genome.wustl.edu 36 13 102516248 102516248 + Nonsense_Mutation SNP C T T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 102516248 102516248 C T SNP SLC10A2 NM_000452 human genbank 54_36p -1 validated nonsense c.353 p.W118* 1 HMMPfam_SBF HMMPfam_SBF - no_errors LOC390424 390424 genome.wustl.edu 36 13 106114293 106114294 + RNA INS - - A novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 106114293 106114294 - A INS LOC390424 XR_016535 human genbank 54_36p 1 model rna NULL NULL 0.958:0.959 - - - no_errors ABHD13 84945 genome.wustl.edu 36 13 107679821 107679821 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 107679821 107679821 C T SNP ABHD13 NM_032859 human genbank 54_36p 1 validated missense c.254 p.P85L 1 superfamily_alpha/beta-Hydrolases "superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1" - no_errors MYO16 23026 genome.wustl.edu 36 13 108116343 108116343 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 108116343 108116343 G A SNP MYO16 NM_015011 human genbank 54_36p 1 validated missense c.71 p.R24H 1 superfamily_Ankyrin repeat "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ" - no_errors MYO16 23026 genome.wustl.edu 36 13 108116425 108116425 + Silent SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 108116425 108116425 G A SNP MYO16 NM_015011 human genbank 54_36p 1 validated silent c.153 p.A51 0.01 superfamily_Ankyrin repeat "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO16 23026 genome.wustl.edu 36 13 108338817 108338817 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 108338817 108338817 A T SNP MYO16 NM_015011 human genbank 54_36p 1 validated missense c.1584 p.R528S 0.99 "HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO16 23026 genome.wustl.edu 36 13 108575501 108575501 + Silent SNP A A G novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 108575501 108575501 A G SNP MYO16 NM_015011 human genbank 54_36p 1 validated silent c.3510 p.R1170 1 superfamily_P-loop containing nucleoside triphosphate hydrolases "HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors COL4A1 1282 genome.wustl.edu 36 13 109615261 109615261 + Missense_Mutation SNP G A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G A G G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 13 109615261 109615261 G A SNP COL4A1 NM_001845 human genbank 54_36p -1 reviewed missense c.4099 p.P1367S 0.97 HMMPfam_Collagen "HMMPfam_Collagen,superfamily_C-type lectin-like,HMMPfam_C4,HMMSmart_SM00111" - no_errors COL4A1 1282 genome.wustl.edu 36 13 109625612 109625612 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 109625612 109625612 T A SNP COL4A1 NM_001845 human genbank 54_36p -1 reviewed missense c.3152 p.Q1051L 0.99 HMMPfam_Collagen "HMMPfam_C4,HMMSmart_SM00111,HMMPfam_Collagen,superfamily_C-type lectin-like" - no_errors COL4A2 1284 genome.wustl.edu 36 13 109880245 109880245 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 109880245 109880245 C T SNP COL4A2 NM_001846 human genbank 54_36p 1 reviewed missense c.490 p.P164S 1 HMMPfam_Collagen "HMMPfam_Collagen,HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold" - no_errors ING1 3621 genome.wustl.edu 36 13 110170145 110170145 + Missense_Mutation SNP G T T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 110170145 110170145 G T SNP ING1 NM_005537 human genbank 54_36p 1 reviewed missense c.1134 p.W378C 1 "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1" - no_errors ARHGEF7 8874 genome.wustl.edu 36 13 110736520 110736520 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 110736520 110736520 T G SNP ARHGEF7 NM_145735 human genbank 54_36p 1 reviewed missense c.1976 p.M659R 1 NULL "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors ATP4B 496 genome.wustl.edu 36 13 113355240 113355240 + Silent SNP G G C novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 113355240 113355240 G C SNP ATP4B NM_000705 human genbank 54_36p -1 reviewed silent c.504 p.P168 0.52 HMMPfam_Na_K-ATPase "HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_1,PatternScan_ATPASE_NA_K_BETA_2" - no_errors ZNF828 283489 genome.wustl.edu 36 13 114107684 114107684 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 114107684 114107684 G C SNP ZNF828 NM_032436 human genbank 54_36p 1 provisional missense c.265 p.D89H 0.98 superfamily_C2H2 and C2HC zinc fingers "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LOC283523 283523 genome.wustl.edu 36 13 18153787 18153787 + Nonsense_Mutation SNP A A T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18153787 18153787 A T SNP LOC283523 XM_001714856 human genbank 54_36p 1 model nonsense c.1243 p.K415* 1 "superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" "superfamily_Telomeric repeat binding factor (TRF) dimerisation domain,HMMPfam_TRF,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding" - pseudogene TUBA3C 7278 genome.wustl.edu 36 13 18646050 18646051 + Missense_Mutation DNP CC CC AA novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 CC CC CC AA CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18646050 18646051 CC AA DNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed missense c.1306_1305 p.G436C 0.999:0.979 superfamily_Tubulin C-terminal domain-like "superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" - no_errors TUBA3C 7278 genome.wustl.edu 36 13 18649364 18649364 + Silent SNP C T T novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18649364 18649364 C T SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed silent c.759 p.T253 0.96 "superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C" "HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like" - no_errors TUBA3C 7278 genome.wustl.edu 36 13 18650417 18650417 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18650417 18650417 A G SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed missense c.344 p.V115A 1 "HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like" "HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like" - no_errors TPTE2 93492 genome.wustl.edu 36 13 18954660 18954660 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 18954660 18954660 T G SNP TPTE2 NM_199254 human genbank 54_36p -1 validated missense c.147 p.E49D 0 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2" - no_errors ZMYM2 7750 genome.wustl.edu 36 13 19539011 19539011 + Silent SNP A A G novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 19539011 19539011 A G SNP ZMYM2 NM_003453 human genbank 54_36p 1 validated silent c.3153 p.V1051 1 NULL "HMMPfam_zf-FCS,HMMSmart_TRASH" - no_errors SACS 26278 genome.wustl.edu 36 13 22811133 22811133 + Nonsense_Mutation SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 22811133 22811133 G A SNP SACS NM_014363 human genbank 54_36p -1 validated nonsense c.4441 p.Q1481* 1 superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase "superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,superfamily_Chaperone J-domain,HMMPfam_HEPN,superfamily_Nucleotidyltransferase substrate binding subunit/domain,HMMSmart_SM00748" - no_errors SACS 26278 genome.wustl.edu 36 13 22811870 22811870 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 22811870 22811870 T C SNP SACS NM_014363 human genbank 54_36p -1 validated missense c.3704 p.H1235R 1 NULL "superfamily_Chaperone J-domain,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HEPN,HMMSmart_SM00748,superfamily_Nucleotidyltransferase substrate binding subunit/domain" - no_errors PARP4 143 genome.wustl.edu 36 13 23949839 23949839 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 23949839 23949839 C G SNP PARP4 NM_006437 human genbank 54_36p -1 reviewed missense c.1789 p.D597H 1 NULL "HMMPfam_BRCT,superfamily_BRCT,HMMSmart_BRCT,superfamily_PARP_reg,HMMPfam_PARP,superfamily_SSF56399,HMMSmart_VIT,HMMPfam_VIT,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA" - no_errors FAM123A 219287 genome.wustl.edu 36 13 24641799 24641799 + Silent SNP G G T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 24641799 24641799 G T SNP FAM123A NM_152704 human genbank 54_36p -1 validated silent c.1959 p.G653 1 NULL HMMPfam_WTX - no_errors MTMR6 9107 genome.wustl.edu 36 13 24724045 24724045 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 24724045 24724045 G A SNP MTMR6 NM_004685 human genbank 54_36p -1 validated missense c.1424 p.S475F 0.95 superfamily_(Phosphotyrosine protein) phosphatases II "superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1" - no_errors MTMR6 9107 genome.wustl.edu 36 13 24729942 24729942 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 24729942 24729942 C T SNP MTMR6 NM_004685 human genbank 54_36p -1 validated missense c.901 p.G301S 1 "HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II" "HMMSmart_SM00404,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II" - no_errors ATP8A2 51761 genome.wustl.edu 36 13 25309376 25309376 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 25309376 25309376 C T SNP ATP8A2 NM_016529 human genbank 54_36p 1 validated missense c.2830 p.P944S 1 NULL "HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N" - no_errors GTF3A 2971 genome.wustl.edu 36 13 26907711 26907711 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 26907711 26907711 G A SNP GTF3A ENST00000381140 human ensembl 54_36p 1 known missense c.1246 p.V416I 0.01 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers" - no_errors LNX2 222484 genome.wustl.edu 36 13 27039953 27039953 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27039953 27039953 G A SNP LNX2 NM_153371 human genbank 54_36p -1 validated missense c.679 p.P227S 1 superfamily_PDZ "superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ" - no_errors LNX2 222484 genome.wustl.edu 36 13 27053767 27053767 + Missense_Mutation SNP T A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27053767 27053767 T A SNP LNX2 NM_153371 human genbank 54_36p -1 validated missense c.74 p.E25V 1 superfamily_SSF57850 "HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850" - no_errors GSX1 219409 genome.wustl.edu 36 13 27266002 27266002 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27266002 27266002 A T SNP GSX1 NM_145657 human genbank 54_36p 1 provisional nonsense c.712 p.K238* 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors ATP5EP2 432369 genome.wustl.edu 36 13 27417532 27417532 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27417532 27417532 G T SNP ATP5EP2 ENST00000381026 human ensembl 54_36p 1 known missense c.136 p.V46L 1 "superfamily_ATP_synth_E,HMMPfam_ATP-synt_Eps" "superfamily_ATP_synth_E,HMMPfam_ATP-synt_Eps" - no_errors FLT3 2322 genome.wustl.edu 36 13 27506122 27506122 + Missense_Mutation SNP A G G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27506122 27506122 A G SNP FLT3 NM_004119 human genbank 54_36p -1 reviewed missense c.1844 p.V615A 0.92 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "superfamily_SSF48726,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR" - no_errors FLT1 2321 genome.wustl.edu 36 13 27878000 27878000 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27878000 27878000 A G SNP FLT1 NM_002019 human genbank 54_36p -1 validated missense c.1468 p.F490L 0.11 "superfamily_Immunoglobulin,HMMSmart_SM00409" ############################################################################################################################################################################################################################################################### - no_errors FLT1 2321 genome.wustl.edu 36 13 27906235 27906235 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 27906235 27906235 A T SNP FLT1 NM_002019 human genbank 54_36p -1 validated missense c.636 p.N212K 1 "HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin" ############################################################################################################################################################################################################################################################### - no_errors MTUS2 23281 genome.wustl.edu 36 13 28796764 28796764 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 28796764 28796764 G A SNP KIAA0774 NM_001033602 human genbank 54_36p 1 validated missense c.2851 p.A951T 0.07 NULL NULL - no_errors C13orf26 122046 genome.wustl.edu 36 13 30424879 30424879 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 30424879 30424879 A C SNP C13orf26 NM_152325 human genbank 54_36p 1 predicted missense c.229 p.T77P 0.07 NULL NULL - no_errors B3GALTL 145173 genome.wustl.edu 36 13 30758859 30758859 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 30758859 30758859 C T SNP B3GALTL NM_194318 human genbank 54_36p 1 reviewed missense c.967 p.H323Y 1 HMMPfam_Fringe "HMMPfam_Fringe,PatternScan_ER_TARGET" - no_errors FRY 10129 genome.wustl.edu 36 13 31733643 31733643 + Silent SNP A A G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31733643 31733643 A G SNP FRY ENST00000380257 human ensembl 54_36p 1 known silent c.7422 p.L2474 0 NULL PatternScan_GHMP_KINASES_ATP - no_errors BRCA2 675 genome.wustl.edu 36 13 31810178 31810178 + Frame_Shift_Del DEL T T - novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T - T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31810178 31810178 T - DEL BRCA2 NM_000059 human genbank 54_36p 1 reviewed frame_shift_del c.3686 p.S1230fs 0.94 HMMPfam_BRCA2 "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" "(deletion:cds_exon[31808402,31813333])" no_errors BRCA2 675 genome.wustl.edu 36 13 31810708 31810711 + Frame_Shift_Del DEL AAAG AAAG - novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 AAAG AAAG AAAG - AAAG AAAG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31810708 31810711 AAAG - DEL BRCA2 NM_000059 human genbank 54_36p 1 reviewed frame_shift_del c.4216_4219 p.K1406fs 0.382:0.373:0.386:0.064 NULL "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" "(deletion:cds_exon[31808402,31813333])" no_errors BRCA2 675 genome.wustl.edu 36 13 31811404 31811404 + Missense_Mutation SNP A G G novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31811404 31811404 A G SNP BRCA2 NM_000059 human genbank 54_36p 1 reviewed missense c.4912 p.K1638E 0.82 NULL "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" - no_errors BRCA2 675 genome.wustl.edu 36 13 31835426 31835441 + Frame_Shift_Del DEL TGAGCGCAAATATATC TGAGCGCAAATATATC - novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 TGAGCGCAAATATATC TGAGCGCAAATATATC TGAGCGCAAATATATC - TGAGCGCAAATATATC TGAGCGCAAATATATC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31835426 31835441 TGAGCGCAAATATATC - DEL BRCA2 NM_000059 human genbank 54_36p 1 reviewed frame_shift_del c.8087_8102 p.S2697fs 0.000:0.000:0.002:0.003:0.004:0.003:0.005:0.002:0.001:0.001:0.001:0.001:0.001:0.001:0.000:0.003 "HMMPfam_BRCA-2_OB1,superfamily_Nucleic_acid_OB" "HMMPfam_BRCA2,HMMPfam_BRCA-2_OB1,HMMPfam_BRCA-2_OB3,HMMPfam_Tower,HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical,superfamily_Nucleic_acid_OB,superfamily_SSF81878" "(deletion:cds_exon[31835316,31835670])" no_errors N4BP2L2 10443 genome.wustl.edu 36 13 31914881 31914893 + Frame_Shift_Del DEL AAAGAAGGAATAT AAAGAAGGAATAT - novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 AAAGAAGGAATAT AAAGAAGGAATAT AAAGAAGGAATAT - AAAGAAGGAATAT AAAGAAGGAATAT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 31914881 31914893 AAAGAAGGAATAT - DEL N4BP2L2 NM_033111 human genbank 54_36p -1 validated frame_shift_del c.1793_1781 p.Y594fs 0.710:0.923:0.954:0.983:0.982:0.982:0.976:0.947:0.842:0.518:0.003:0.004:0.002 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases "(deletion:cds_exon[31914525,31916263])" no_errors PDS5B 23047 genome.wustl.edu 36 13 32228035 32228035 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1464-01A-01W-0549-09 TCGA-24-1464-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 32228035 32228035 G T SNP PDS5B NM_015032 human genbank 54_36p 1 validated missense c.2997 p.L999F 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_AT_hook" - no_errors STARD13 90627 genome.wustl.edu 36 13 32614466 32614466 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 32614466 32614466 A T SNP STARD13 NM_178006 human genbank 54_36p -1 validated missense c.368 p.V123E 1 NULL "HMMPfam_SAM_2,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors STARD13 90627 genome.wustl.edu 36 13 32637488 32637488 + Silent SNP T T A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 32637488 32637488 T A SNP STARD13 NM_178006 human genbank 54_36p -1 validated silent c.309 p.V103 1 HMMPfam_SAM_2 "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,HMMPfam_SAM_2,superfamily_Bet v1-like" - no_errors NBEA 26960 genome.wustl.edu 36 13 34513294 34513294 + Missense_Mutation SNP G A A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 34513294 34513294 G A SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.519 p.M173I 1 superfamily_ARM repeat "superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors NBEA 26960 genome.wustl.edu 36 13 34528261 34528261 + Missense_Mutation SNP A A T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 34528261 34528261 A T SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.1087 p.N363Y 1 "superfamily_Concanavalin A-like lectins/glucanases,superfamily_ARM repeat" "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors NBEA 26960 genome.wustl.edu 36 13 34633998 34633998 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 34633998 34633998 C T SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.3973 p.R1325W 1 superfamily_ARM repeat "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors NBEA 26960 genome.wustl.edu 36 13 35022684 35022684 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 35022684 35022684 G C SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.6656 p.R2219P 1 "superfamily_ARM repeat,superfamily_PH domain-like" "HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like" - no_errors DCLK1 9201 genome.wustl.edu 36 13 35282981 35282981 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 35282981 35282981 G A SNP DCLK1 NM_004734 human genbank 54_36p -1 validated missense c.1679 p.A560V 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors DCLK1 9201 genome.wustl.edu 36 13 35322904 35322904 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 35322904 35322904 G A SNP DCAMKL1 ENST00000379892 human ensembl 54_36p -1 known missense c.1045 p.R349C 1 NULL "superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX" - no_errors CCNA1 8900 genome.wustl.edu 36 13 35914759 35914759 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 35914759 35914759 G A SNP CCNA1 NM_003914 human genbank 54_36p 1 reviewed missense c.1355 p.C452Y 0.77 "HMMPfam_Cyclin_C,superfamily_Cyclin-like" "superfamily_Cyclin-like,HMMPfam_Cyclin_N,PatternScan_CYCLINS,HMMSmart_SM00385,HMMPfam_Cyclin_C" - no_errors RFXAP 5994 genome.wustl.edu 36 13 36292092 36292092 + Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 36292092 36292092 G T SNP RFXAP NM_000538 human genbank 54_36p 1 reviewed nonsense c.598 p.E200* 1 NULL NULL - no_errors POSTN 10631 genome.wustl.edu 36 13 37036662 37036663 + Frame_Shift_Ins INS - - T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 - - - T - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 37036662 37036663 - T INS POSTN NM_006475 human genbank 54_36p -1 validated frame_shift_ins c.2467_2466 p.V822fs 0.975:0.976 NULL "HMMPfam_EMI,superfamily_FAS1 domain,HMMPfam_Fasciclin,HMMSmart_SM00554" - no_errors TRPC4 7223 genome.wustl.edu 36 13 37123424 37123424 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 37123424 37123424 G T SNP TRPC4 NM_016179 human genbank 54_36p -1 validated missense c.2057 p.P686Q 1 NULL "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,HMMPfam_TRP_2,HMMPfam_Ion_trans,PatternScan_RIBOSOMAL_S2_1" - no_errors TRPC4 7223 genome.wustl.edu 36 13 37123513 37123513 + Silent SNP G C C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 37123513 37123513 G C SNP TRPC4 NM_016179 human genbank 54_36p -1 validated silent c.1968 p.P656 0.99 NULL "HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2,PatternScan_RIBOSOMAL_S2_1" - no_errors UFM1 51569 genome.wustl.edu 36 13 37826430 37826441 + Splice_Site DEL AGAAGTAAGTAC AGAAGTAAGTAC - novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 AGAAGTAAGTAC AGAAGTAAGTAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 37826430 37826441 AGAAGTAAGTAC - DEL UFM1 NM_016617 human genbank 54_36p 1 validated splice_site_del c.114_117 p.E38fs 1.000:1.000:1.000:1.000 "superfamily_Ubiquitin-like,HMMPfam_Ufm1" "superfamily_Ubiquitin-like,HMMPfam_Ufm1" "(deletion:cds_exon[37826376,37826433], intron[37826434,37830229])" no_errors FREM2 341640 genome.wustl.edu 36 13 38162383 38162383 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 38162383 38162383 G A SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.2902 p.V968I 0.92 NULL "HMMSmart_SM00237,HMMPfam_Calx-beta" - no_errors FREM2 341640 genome.wustl.edu 36 13 38256814 38256814 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 38256814 38256814 T C SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.5888 p.I1963T 0.07 "HMMPfam_Calx-beta,HMMSmart_SM00237" "HMMPfam_Calx-beta,HMMSmart_SM00237" - no_errors FREM2 341640 genome.wustl.edu 36 13 38328279 38328279 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 38328279 38328279 A T SNP FREM2 NM_207361 human genbank 54_36p 1 reviewed missense c.6942 p.E2314D 0.98 "HMMPfam_Calx-beta,HMMSmart_SM00237" "HMMPfam_Calx-beta,HMMSmart_SM00237" - no_errors STOML3 161003 genome.wustl.edu 36 13 38439003 38439003 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 38439003 38439003 C T SNP STOML3 NM_145286 human genbank 54_36p -1 validated missense c.835 p.V279I 0 NULL "HMMSmart_PHB,HMMPfam_Band_7,PatternScan_BAND_7" - no_errors KBTBD6 89890 genome.wustl.edu 36 13 40603167 40603167 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 40603167 40603167 A C SNP KBTBD6 NM_152903 human genbank 54_36p -1 validated missense c.1481 p.M494R 1 superfamily_Gal_oxid_central "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch" - no_errors KBTBD7 84078 genome.wustl.edu 36 13 40664661 40664661 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 40664661 40664661 C G SNP KBTBD7 NM_032138 human genbank 54_36p -1 provisional missense c.1733 p.W578S 1 superfamily_Galactose oxidase central domain "superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1" - no_errors KBTBD7 84078 genome.wustl.edu 36 13 40665783 40665783 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 40665783 40665783 C A SNP KBTBD7 NM_032138 human genbank 54_36p -1 provisional missense c.611 p.S204I 0.97 HMMPfam_BACK "HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB" - no_errors KIAA0564 23078 genome.wustl.edu 36 13 41147411 41147411 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 41147411 41147411 G C SNP KIAA0564 NM_015058 human genbank 54_36p -1 validated missense c.4349 p.S1450C 1 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMSmart_SM00382,superfamily_vWA-like,HMMSmart_SM00327" - no_errors DGKH 160851 genome.wustl.edu 36 13 41691919 41691919 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 41691919 41691919 G A SNP DGKH NM_178009 human genbank 54_36p 1 reviewed missense c.3431 p.S1144N 1 superfamily_SAM/Pointed domain ############################################################################################################################################################################################################################################################### - no_errors EPSTI1 94240 genome.wustl.edu 36 13 42360622 42360622 + Silent SNP A A G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 42360622 42360622 A G SNP EPSTI1 NM_001002264 human genbank 54_36p -1 validated silent c.997 p.L333 0.24 NULL NULL - no_errors CPB2 1361 genome.wustl.edu 36 13 45525782 45525782 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 45525782 45525782 T G SNP CPB2 NM_001872 human genbank 54_36p -1 reviewed missense c.1240 p.K414Q 0.72 superfamily_Zn-dependent exopeptidases "superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14" - no_errors LCP1 3936 genome.wustl.edu 36 13 45614517 45614517 + Silent SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 45614517 45614517 C T SNP LCP1 NM_002298 human genbank 54_36p -1 reviewed silent c.1413 p.A471 1 "superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH" "superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2" - no_errors LRCH1 23143 genome.wustl.edu 36 13 46158085 46158085 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 46158085 46158085 A G SNP LRCH1 NM_015116 human genbank 54_36p 1 provisional missense c.730 p.K244E 1 superfamily_L domain-like "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00364,PatternScan_PTS_HPR_SER,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033" - no_errors HTR2A 3356 genome.wustl.edu 36 13 46307197 46307197 + Missense_Mutation SNP G C C novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 46307197 46307197 G C SNP HTR2A NM_000621 human genbank 54_36p -1 validated missense c.1192 p.Q398E 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors HTR2A 3356 genome.wustl.edu 36 13 46364583 46364583 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 46364583 46364583 A G SNP HTR2A NM_000621 human genbank 54_36p -1 validated missense c.556 p.F186L 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors MED4 29079 genome.wustl.edu 36 13 47562502 47562502 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 47562502 47562502 C A SNP MED4 NM_014166 human genbank 54_36p -1 provisional missense c.179 p.G60V 1 HMMPfam_VDRIP HMMPfam_VDRIP - no_errors TRIM13 10206 genome.wustl.edu 36 13 49484660 49484660 + Nonsense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 49484660 49484660 C T SNP TRIM13 NM_001007278 human genbank 54_36p 1 reviewed nonsense c.592 p.Q198* 1 NULL "superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,superfamily_SSF57845" - no_errors TRIM13 10206 genome.wustl.edu 36 13 49485278 49485278 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 49485278 49485278 G T SNP TRIM13 NM_001007278 human genbank 54_36p 1 reviewed missense c.1210 p.V404L 1 NULL "HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57845,superfamily_SSF57850" - no_errors INTS6 26512 genome.wustl.edu 36 13 50841316 50841317 + Missense_Mutation DNP CC CC TT novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 CC CC CC TT CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 50841316 50841317 CC TT DNP INTS6 NM_012141 human genbank 54_36p -1 reviewed missense c.2236_2235 p.E746K 0.994:0.986 NULL "superfamily_vWA-like,PatternScan_DEAD_ATP_HELICASE" - no_errors ALG11 440138 genome.wustl.edu 36 13 51491273 51491273 + Missense_Mutation SNP C G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C G C C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 13 51491273 51491273 C G SNP ALG11 NM_001004127 human genbank 54_36p 1 provisional missense c.268 p.Q90E 1 superfamily_SSF53756 "superfamily_SSF53756,HMMPfam_Glycos_transf_1" - no_errors THSD1 55901 genome.wustl.edu 36 13 51870016 51870016 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 51870016 51870016 C A SNP THSD1 NM_018676 human genbank 54_36p -1 reviewed missense c.373 p.V125L 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1" - no_errors CKAP2 26586 genome.wustl.edu 36 13 51946157 51946157 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 51946157 51946157 A G SNP CKAP2 NM_001098525 human genbank 54_36p 1 validated missense c.1742 p.N581S 0 NULL NULL - no_errors PCDH17 27253 genome.wustl.edu 36 13 57106328 57106328 + Silent SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 57106328 57106328 G A SNP PCDH17 NM_001040429 human genbank 54_36p 1 reviewed silent c.1647 p.E549 1 "superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112" "superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin" - no_errors PCDH17 27253 genome.wustl.edu 36 13 57106788 57106788 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 57106788 57106788 G A SNP PCDH17 NM_001040429 human genbank 54_36p 1 reviewed missense c.2107 p.D703N 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like" - no_errors DIAPH3 81624 genome.wustl.edu 36 13 59305280 59305280 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 59305280 59305280 A T SNP DIAPH3 NM_001042517 human genbank 54_36p -1 validated missense c.2989 p.F997I 0.99 "superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2" "HMMPfam_Drf_GBD,HMMPfam_Drf_FH3,superfamily_Formin homology 2 domain (FH2 domain),HMMSmart_SM00498,HMMPfam_FH2,PatternScan_RNASE_PANCREATIC,HMMPfam_Drf_DAD" - no_errors DIAPH3 81624 genome.wustl.edu 36 13 59311503 59311503 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 59311503 59311503 G A SNP DIAPH3 NM_001042517 human genbank 54_36p -1 validated missense c.2818 p.P940S 1 "HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)" "PatternScan_RNASE_PANCREATIC,HMMSmart_SM00498,HMMPfam_Drf_DAD,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)" - no_errors PCDH20 64881 genome.wustl.edu 36 13 60883960 60883960 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 60883960 60883960 G T SNP PCDH20 NM_022843 human genbank 54_36p -1 validated missense c.2192 p.T731N 1 "superfamily_Cadherin,HMMPfam_Cadherin" "HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA" - no_errors PCDH20 64881 genome.wustl.edu 36 13 60884438 60884438 + Silent SNP G G T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 60884438 60884438 G T SNP PCDH20 NM_022843 human genbank 54_36p -1 validated silent c.1714 p.R572 1 "HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDH20 64881 genome.wustl.edu 36 13 60884812 60884812 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 60884812 60884812 G A SNP PCDH20 NM_022843 human genbank 54_36p -1 validated missense c.1340 p.P447L 1 "HMMSmart_CA,superfamily_Cadherin" "HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin" - no_errors PCDH9 5101 genome.wustl.edu 36 13 65777069 65777069 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 65777069 65777069 G A SNP PCDH9 NM_203487 human genbank 54_36p -1 reviewed missense c.3433 p.P1145S 1 NULL "HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMPfam_Protocadherin" - no_errors PCDH9 5101 genome.wustl.edu 36 13 66103459 66103459 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13 66103459 66103459 C T SNP PCDH9 NM_203487 human genbank 54_36p -1 reviewed missense c.3224 p.G1075D 1 NULL "HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin-like" - no_errors KLF12 11278 genome.wustl.edu 36 13 73187530 73187530 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 73187530 73187530 T C SNP KLF12 NM_007249 human genbank 54_36p -1 validated missense c.1003 p.K335E 1 "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LOC647288 647288 genome.wustl.edu 36 13 74711645 74711645 + RNA SNP A A T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 74711645 74711645 A T SNP LOC647288 XR_017516 human genbank 54_36p -1 model rna NULL NULL 0.87 - - - pseudogene LOC647288 647288 genome.wustl.edu 36 13 74712540 74712540 + RNA SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 74712540 74712540 C A SNP LOC647288 XR_017516 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene LOC390413 390413 genome.wustl.edu 36 13 76453818 76453818 + RNA SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76453818 76453818 C T SNP LOC390413 XR_017528 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene CLN5 1203 genome.wustl.edu 36 13 76468169 76468169 + Silent SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76468169 76468169 C T SNP CLN5 NM_006493 human genbank 54_36p 1 reviewed silent c.618 p.F206 1 NULL NULL - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76527820 76527820 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76527820 76527820 C G SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.13407 p.M4469I 1 NULL "superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,HMMPfam_PHR,superfamily_E set domains,superfamily_Galactose-binding domain-like,superfamily_RING/U-box,HMMSmart_SM00184" - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76536761 76536761 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76536761 76536761 G C SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.12548 p.A4183G 1 NULL "HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box" - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76638566 76638566 + Missense_Mutation SNP C G G novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76638566 76638566 C G SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.6125 p.G2042A 1 NULL "HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box" - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76652359 76652359 + Missense_Mutation SNP T G G novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 76652359 76652359 T G SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.4923 p.R1641S 1 NULL "HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box" - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76696612 76696612 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 13 76696612 76696612 G C SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated missense c.2800 p.L934V 1 "HMMPfam_RCC1,superfamily_RCC1/BLIP-II" "HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box" - no_errors SCEL 8796 genome.wustl.edu 36 13 77065663 77065663 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 77065663 77065663 G C SNP SCEL NM_144777 human genbank 54_36p 1 reviewed missense c.706 p.D236H 0.01 NULL "HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1" - no_errors SLAIN1 122060 genome.wustl.edu 36 13 77216405 77216405 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 77216405 77216405 C T SNP SLAIN1 ENST00000377236 human ensembl 54_36p 1 known silent c.42 p.F14 0 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region POU4F1 5457 genome.wustl.edu 36 13 78073769 78073769 + Missense_Mutation SNP C G G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 78073769 78073769 C G SNP POU4F1 NM_006237 human genbank 54_36p -1 validated missense c.1042 p.E348Q 1 superfamily_Homeodomain-like "HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1" - no_errors RBM26 64062 genome.wustl.edu 36 13 78831779 78831779 + Silent SNP T T G novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 78831779 78831779 T G SNP RBM26 NM_022118 human genbank 54_36p -1 validated silent c.1461 p.S487 1 NULL "superfamily_SSF101233,HMMPfam_DUF1777,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928,HMMSmart_RRM" - no_errors SPRY2 10253 genome.wustl.edu 36 13 79809658 79809658 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 79809658 79809658 C T SNP SPRY2 NM_005842 human genbank 54_36p -1 reviewed missense c.184 p.V62I 1 NULL HMMPfam_Sprouty - no_errors SLITRK6 84189 genome.wustl.edu 36 13 85268362 85268362 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 85268362 85268362 G T SNP SLITRK6 NM_032229 human genbank 54_36p -1 validated missense c.283 p.L95I 1 "superfamily_L domain-like,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT" - no_errors SLITRK5 26050 genome.wustl.edu 36 13 87127446 87127446 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 87127446 87127446 C A SNP SLITRK5 NM_015567 human genbank 54_36p 1 validated missense c.1802 p.T601N 0.9 "superfamily_L domain-like,HMMSmart_SM00082" "superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRNT" - no_errors DCT 1638 genome.wustl.edu 36 13 93929317 93929317 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 93929317 93929317 C G SNP DCT NM_001922 human genbank 54_36p -1 validated missense c.194 p.R65P 0.1 NULL "superfamily_Di-copper_centre,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2" - no_errors CLDN10 9071 genome.wustl.edu 36 13 94884273 94884273 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 94884273 94884273 G T SNP CLDN10 NM_182848 human genbank 54_36p 1 reviewed missense c.185 p.R62L 1 HMMPfam_PMP22_Claudin "HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN" - no_errors DZIP1 22873 genome.wustl.edu 36 13 95075051 95075051 + Nonsense_Mutation SNP A A T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 95075051 95075051 A T SNP DZIP1 NM_198968 human genbank 54_36p -1 validated nonsense c.944 p.L315* 1 NULL "HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors DNAJC3 5611 genome.wustl.edu 36 13 95193152 95193152 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 95193152 95193152 T A SNP DNAJC3 ENST00000360638 human ensembl 54_36p 1 known missense c.657 p.S219R 0 NULL "superfamily_SSF48452,HMMSmart_TPR,HMMPfam_TPR_1" - no_errors SLC15A1 6564 genome.wustl.edu 36 13 98158993 98158993 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 13 98158993 98158993 A G SNP SLC15A1 NM_005073 human genbank 54_36p -1 validated missense c.1097 p.V366A 1 "superfamily_MFS general substrate transporter,HMMPfam_PTR2" "superfamily_MFS general substrate transporter,PatternScan_PTR2_1,HMMPfam_PTR2,PatternScan_PTR2_2" - no_errors ENSG00000214100 0 genome.wustl.edu 36 2 130399744 130399744 + Missense_Mutation SNP C T T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 130399744 130399744 C T SNP ENSG00000214100 ENST00000397540 human ensembl 54_36p -1 novel missense c.14 p.C5Y 0.27 NULL NULL - no_errors POTEKP 440915 genome.wustl.edu 36 2 132074138 132074138 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 132074138 132074138 C G SNP ACTBL3 ENST00000397487 human ensembl 54_36p 1 known missense c.790 p.L264V 0 "superfamily_Ankyrin repeat,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248" - no_stop_codon LOC100128322 100128322 genome.wustl.edu 36 6 132189957 132189957 + RNA SNP A A G novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 132189957 132189957 A G SNP LOC100128322 XR_039280 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC100128322 100128322 genome.wustl.edu 36 6 132191190 132191190 + RNA SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6 132191190 132191190 G T SNP LOC100128322 XR_039280 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene MIR20B 574032 genome.wustl.edu 36 X 133131530 133131530 + RNA SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 133131530 133131530 T C SNP MIRN20B ENST00000384977 human ensembl 54_36p -1 known rna NULL NULL 1 - - - no_errors MIR504 574507 genome.wustl.edu 36 X 137577620 137577620 + RNA SNP C C A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 137577620 137577620 C A SNP MIRN504 ENST00000385065 human ensembl 54_36p -1 known rna NULL NULL 0.86 - - - no_errors PPP2R5C 5527 genome.wustl.edu 36 14 101453935 101453935 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 101453935 101453935 T G SNP PPP2R5C NM_002719 human genbank 54_36p 1 reviewed missense c.1341 p.S447R 1 NULL "HMMPfam_B56,superfamily_ARM repeat" - no_errors HSP90AA1 3320 genome.wustl.edu 36 14 101621019 101621022 + Frame_Shift_Del DEL TTTC TTTC - novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 TTTC TTTC TTTC - TTTC TTTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 101621019 101621022 TTTC - DEL HSP90AA1 NM_001017963 human genbank 54_36p -1 validated frame_shift_del c.1099_1096 p.E366fs 0.847:0.837:0.989:0.994 HMMPfam_HSP90 ############################################################################################################################################################################################################################################################### "(deletion:cds_exon[101620771,101621088])" no_errors RAGE 5891 genome.wustl.edu 36 14 101765638 101765638 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 14 101765638 101765638 G C SNP RAGE NM_014226 human genbank 54_36p -1 provisional missense c.1091 p.S364C 1 NULL "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST" - no_errors RAGE 5891 genome.wustl.edu 36 14 101768721 101768721 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 101768721 101768721 T G SNP RAGE NM_014226 human genbank 54_36p -1 provisional missense c.770 p.Q257P 0.03 "HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase" "HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase" - no_errors BAG5 9529 genome.wustl.edu 36 14 103096679 103096679 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 103096679 103096679 C A SNP BAG5 NM_001015049 human genbank 54_36p -1 reviewed missense c.699 p.E233D 0.98 "superfamily_BAG domain,HMMPfam_BAG,HMMSmart_SM00264" "superfamily_BAG domain,HMMPfam_BAG,HMMSmart_SM00264" - no_errors TDRD9 122402 genome.wustl.edu 36 14 103552136 103552136 + Silent SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 103552136 103552136 G T SNP TDRD9 NM_153046 human genbank 54_36p 1 validated silent c.1434 p.A478 0.03 NULL "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333" - no_errors ADSSL1 122622 genome.wustl.edu 36 14 104282285 104282285 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104282285 104282285 T A SNP ADSSL1 NM_199165 human genbank 54_36p 1 validated missense c.1294 p.F432I 1 "HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540" "HMMSmart_Adenylsucc_synt,HMMPfam_Adenylsucc_synt,superfamily_SSF52540,PatternScan_ADENYLOSUCCIN_SYN_2" - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104477692 104477692 + Silent SNP A A C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104477692 104477692 A C SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated silent c.15141 p.P5047 0 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_Involucrin" - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104482768 104482768 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104482768 104482768 G T SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.10065 p.D3355E 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104483748 104483748 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 104483748 104483748 C G SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.9085 p.E3029Q 0 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104484262 104484262 + Silent SNP C C T novel Unknown TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 104484262 104484262 C T SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated silent c.8571 p.K2857 0.38 NULL "HMMPfam_Involucrin,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors CDCA4 55038 genome.wustl.edu 36 14 104549113 104549113 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104549113 104549113 G A SNP CDCA4 NM_017955 human genbank 54_36p -1 reviewed missense c.199 p.R67W 1 HMMPfam_SERTA HMMPfam_SERTA - no_errors GPR132 29933 genome.wustl.edu 36 14 104589053 104589053 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104589053 104589053 G A SNP GPR132 NM_013345 human genbank 54_36p -1 reviewed missense c.466 p.R156W 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors GPR132 29933 genome.wustl.edu 36 14 104589084 104589084 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104589084 104589084 C T SNP GPR132 NM_013345 human genbank 54_36p -1 reviewed silent c.435 p.V145 0.57 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors BRF1 2972 genome.wustl.edu 36 14 104755051 104755051 + Silent SNP G G T novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 104755051 104755051 G T SNP BRF1 NM_001519 human genbank 54_36p -1 reviewed silent c.1647 p.A549 0.15 NULL "HMMPfam_TFIIB_Zn_Ribbon,superfamily_Zinc beta-ribbon,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB,HMMPfam_BRF1" - no_errors IGHE 3497 genome.wustl.edu 36 14 105138472 105138472 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105138472 105138472 A T SNP IGHE ENST00000390540 human ensembl 54_36p -1 known missense c.421 p.Y141N 0 "superfamily_SSF48726,HMMSmart_IGc1,HMMPfam_C1-set" "superfamily_SSF48726,HMMSmart_IGc1,HMMPfam_C1-set,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHG2 3501 genome.wustl.edu 36 14 105180768 105180768 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 105180768 105180768 C A SNP IGHG2 ENST00000390544 human ensembl 54_36p -1 known nonsense c.793 p.G265* 0.01 "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHD 3495 genome.wustl.edu 36 14 105377897 105377897 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105377897 105377897 G A SNP IGHD ENST00000390556 human ensembl 54_36p -1 known missense c.976 p.L326F 0 "superfamily_Immunoglobulin,HMMSmart_SM00407,HMMPfam_C1-set" "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC,HMMPfam_ig" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHD 3495 genome.wustl.edu 36 14 105382769 105382771 + In_Frame_Del DEL CTC CTC - novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 CTC CTC CTC - CTC CTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105382769 105382771 CTC - DEL IGHD ENST00000390556 human ensembl 54_36p -1 known in_frame_del c.287_285 p.R96in_frame_del 0.000:0.001:0.001 "HMMPfam_C1-set,superfamily_Immunoglobulin" "PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,HMMPfam_ig,superfamily_Immunoglobulin" "(deletion:cds_exon[105382753,105383055])" no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHM 3507 genome.wustl.edu 36 14 105391761 105391761 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 105391761 105391761 C A SNP IGHM ENST00000390558 human ensembl 54_36p -1 known nonsense c.1093 p.G365* 1 "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407" "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENSG00000211954 0 genome.wustl.edu 36 14 105876484 105876484 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 105876484 105876484 T C SNP ENSG00000211954 ENST00000390614 human ensembl 54_36p -1 known missense c.124 p.T42A 0 "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" "HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211962 0 genome.wustl.edu 36 14 106038188 106038188 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 106038188 106038188 C T SNP ENSG00000211962 ENST00000390622 human ensembl 54_36p -1 known missense c.257 p.R86K 0 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406" "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000215398 0 genome.wustl.edu 36 14 18187185 18187185 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 18187185 18187185 C A SNP ENSG00000215398 ENST00000400208 human ensembl 54_36p 1 known nonsense c.491 p.S164* 0.01 "superfamily_Ankyrin repeat,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_ASP_PROTEASE" - no_start_codon OR11H12 440153 genome.wustl.edu 36 14 18447700 18447700 + Nonsense_Mutation SNP G G A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 18447700 18447700 G A SNP OR11H12 NM_001013354 human genbank 54_36p 1 provisional nonsense c.107 p.W36* 0 superfamily_SSF81321 "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors OR11H12 440153 genome.wustl.edu 36 14 18447878 18447878 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 18447878 18447878 G T SNP OR11H12 NM_001013354 human genbank 54_36p 1 provisional missense c.285 p.K95N 0.05 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LOC642458 642458 genome.wustl.edu 36 14 18558349 18558349 + RNA SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 18558349 18558349 T A SNP LOC642458 XR_016116 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene OR4N2 390429 genome.wustl.edu 36 14 19366355 19366355 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19366355 19366355 A T SNP OR4N2 NM_001004723 human genbank 54_36p 1 provisional missense c.908 p.N303I 0 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4K2 390431 genome.wustl.edu 36 14 19415120 19415120 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19415120 19415120 T A SNP OR4K2 NM_001005501 human genbank 54_36p 1 provisional missense c.854 p.I285K 0.12 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4K2 390431 genome.wustl.edu 36 14 19415193 19415193 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19415193 19415193 T A SNP OR4K2 NM_001005501 human genbank 54_36p 1 provisional missense c.927 p.N309K 0 NULL "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors OR4K1 79544 genome.wustl.edu 36 14 19473741 19473741 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19473741 19473741 T C SNP OR4K1 NM_001004063 human genbank 54_36p 1 provisional missense c.76 p.F26L 0.15 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4L1 122742 genome.wustl.edu 36 14 19598093 19598093 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1316-01A-01W-0494-09 TCGA-25-1316-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19598093 19598093 T C SNP OR4L1 NM_001004717 human genbank 54_36p 1 provisional missense c.50 p.F17S 0.23 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4L1 122742 genome.wustl.edu 36 14 19598948 19598948 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19598948 19598948 G T SNP OR4L1 NM_001004717 human genbank 54_36p 1 provisional missense c.905 p.R302L 0 superfamily_SSF81321 "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR4N5 390437 genome.wustl.edu 36 14 19682585 19682585 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19682585 19682585 C A SNP OR4N5 NM_001004724 human genbank 54_36p 1 provisional missense c.851 p.P284H 0.92 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR11H6 122748 genome.wustl.edu 36 14 19761717 19761717 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 T T T G T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19761717 19761717 T G SNP OR11H6 NM_001004480 human genbank 54_36p 1 provisional missense c.9 p.F3L 0 NULL "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR11H6 122748 genome.wustl.edu 36 14 19762235 19762235 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19762235 19762235 T A SNP OR11H6 NM_001004480 human genbank 54_36p 1 provisional missense c.527 p.V176D 0.09 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors OR11H4 390442 genome.wustl.edu 36 14 19781045 19781045 + Silent SNP C C T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19781045 19781045 C T SNP OR11H4 NM_001004479 human genbank 54_36p 1 provisional silent c.255 p.S85 0.71 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors CCNB1IP1 57820 genome.wustl.edu 36 14 19851594 19851594 + Missense_Mutation SNP A A T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19851594 19851594 A T SNP CCNB1IP1 NM_021178 human genbank 54_36p -1 validated missense c.504 p.N168K 1 NULL PatternScan_ZF_RING_1 - no_errors PARP2 10038 genome.wustl.edu 36 14 19890252 19890252 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19890252 19890252 A C SNP PARP2 NM_005484 human genbank 54_36p 1 reviewed missense c.545 p.D182A 1 "HMMPfam_WGR,HMMSmart_SM00773" "HMMPfam_WGR,HMMSmart_SM00773,HMMPfam_PARP_reg,superfamily_Domain of poly(ADP-ribose) polymerase,HMMPfam_PARP,superfamily_ADP-ribosylation,PatternScan_CASPASE_HIS,PatternScan_CPSASE_2" - no_errors APEX1 328 genome.wustl.edu 36 14 19995128 19995128 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 19995128 19995128 G A SNP APEX1 NM_001641 human genbank 54_36p 1 reviewed missense c.578 p.R193H 1 "superfamily_DNase I-like,HMMPfam_Exo_endo_phos" "superfamily_DNase I-like,HMMPfam_Exo_endo_phos,PatternScan_AP_NUCLEASE_F1_1,PatternScan_AP_NUCLEASE_F1_2,PatternScan_AP_NUCLEASE_F1_3" - no_errors PNP 4860 genome.wustl.edu 36 14 20013201 20013201 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20013201 20013201 A T SNP NP NM_000270 human genbank 54_36p 1 reviewed missense c.602 p.E201V 1 "superfamily_SSF53167,HMMPfam_PNP_UDP_1" "superfamily_SSF53167,HMMPfam_PNP_UDP_1,PatternScan_PNP_MTAP_2" - no_errors RNASE11 122651 genome.wustl.edu 36 14 20121957 20121957 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20121957 20121957 T A SNP RNASE11 NM_145250 human genbank 54_36p -1 validated missense c.517 p.S173C 0 superfamily_RNase A-like superfamily_RNase A-like - no_errors RNASE12 493901 genome.wustl.edu 36 14 20128389 20128389 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20128389 20128389 C T SNP RNASE12 NM_001024822 human genbank 54_36p -1 provisional missense c.334 p.E112K 0 "superfamily_RNaseA,HMMPfam_RnaseA" "superfamily_RNaseA,HMMPfam_RnaseA" - no_errors RNASE2 6036 genome.wustl.edu 36 14 20493879 20493879 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20493879 20493879 T C SNP RNASE2 NM_002934 human genbank 54_36p 1 validated missense c.109 p.W37R 0.95 "superfamily_RNaseA,HMMSmart_RNAse_Pc,HMMPfam_RnaseA" "superfamily_RNaseA,HMMSmart_RNAse_Pc,HMMPfam_RnaseA,PatternScan_RNASE_PANCREATIC" - no_errors METT11D1 64745 genome.wustl.edu 36 14 20534531 20534531 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20534531 20534531 G A SNP METT11D1 NM_001029991 human genbank 54_36p 1 validated silent c.1086 p.K362 0.5 HMMPfam_Rsm22 "HMMPfam_Rsm22,superfamily_SSF53335" - no_errors RPGRIP1 57096 genome.wustl.edu 36 14 20832711 20832711 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20832711 20832711 A G SNP RPGRIP1 NM_020366 human genbank 54_36p 1 reviewed missense c.121 p.M41V 0.9 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors CHD8 57680 genome.wustl.edu 36 14 20940373 20940373 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20940373 20940373 G C SNP CHD8 NM_020920 human genbank 54_36p -1 validated missense c.3007 p.L1003V 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592" - no_errors CHD8 57680 genome.wustl.edu 36 14 20943240 20943240 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 20943240 20943240 C T SNP CHD8 NM_020920 human genbank 54_36p -1 validated missense c.2438 p.R813H 1 HMMPfam_SNF2_N "HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00487,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors OR4E2 26686 genome.wustl.edu 36 14 21204039 21204039 + Silent SNP C C G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 21204039 21204039 C G SNP OR4E2 NM_001001912 human genbank 54_36p 1 validated silent c.903 p.L301 0.69 superfamily_SSF81321 "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors TRA@ 6955 genome.wustl.edu 36 14 22001981 22001981 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22001981 22001981 A C SNP TRA@ ENST00000390477 human ensembl 54_36p 1 known missense c.218 p.Q73P 0.91 superfamily_Immunoglobulin superfamily_Immunoglobulin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C14orf93 60686 genome.wustl.edu 36 14 22535179 22535179 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22535179 22535179 G C SNP C14orf93 NM_021944 human genbank 54_36p -1 validated missense c.736 p.L246V 1 NULL NULL - no_errors PSMB5 5693 genome.wustl.edu 36 14 22573899 22573899 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22573899 22573899 A T SNP PSMB5 NM_002797 human genbank 54_36p -1 reviewed missense c.32 p.L11Q 0.98 NULL "superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),HMMPfam_Proteasome,PatternScan_PROTEASOME_B" - no_errors ACIN1 22985 genome.wustl.edu 36 14 22619588 22619588 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22619588 22619588 G C SNP ACIN1 NM_014977 human genbank 54_36p -1 validated missense c.970 p.P324A 0.94 NULL "superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,superfamily_RNA-binding domain RBD" - no_errors CEBPE 1053 genome.wustl.edu 36 14 22658083 22658083 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22658083 22658083 A T SNP CEBPE NM_001805 human genbank 54_36p -1 reviewed missense c.58 p.F20I 1 NULL "PatternScan_BZIP_BASIC,HMMSmart_BRLZ,HMMPfam_bZIP_2" - no_errors PABPN1 8106 genome.wustl.edu 36 14 22861342 22861342 + Missense_Mutation SNP A A G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22861342 22861342 A G SNP PABPN1 NM_004643 human genbank 54_36p 1 reviewed missense c.464 p.N155S 1 superfamily_RNA-binding domain RBD "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors PABPN1 8106 genome.wustl.edu 36 14 22863304 22863304 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22863304 22863304 G A SNP PABPN1 NM_004643 human genbank 54_36p 1 reviewed missense c.847 p.G283S 1 superfamily_RNA-binding domain RBD "HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD" - no_errors IL25 64806 genome.wustl.edu 36 14 22914673 22914673 + Splice_Site SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22914673 22914673 G A SNP IL25 NM_022789 human genbank 54_36p 1 reviewed splice_site c.279-1 e2-1 1 - - - no_errors MYH6 4624 genome.wustl.edu 36 14 22926590 22926590 + Silent SNP C C G novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22926590 22926590 C G SNP MYH6 NM_002471 human genbank 54_36p -1 validated silent c.4638 p.L1546 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1" - no_errors MYH7 4625 genome.wustl.edu 36 14 22957352 22957352 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 22957352 22957352 C T SNP MYH7 NM_000257 human genbank 54_36p -1 reviewed missense c.4076 p.R1359H 1 HMMPfam_Myosin_tail_1 "HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1" - no_errors DHRS4 10901 genome.wustl.edu 36 14 23494095 23494095 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23494095 23494095 C T SNP DHRS4 NM_021004 human genbank 54_36p 1 validated missense c.140 p.A47V 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors DHRS4L2 317749 genome.wustl.edu 36 14 23529369 23529369 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 14 23529369 23529369 T A SNP DHRS4L2 NM_198083 human genbank 54_36p 1 validated missense c.267 p.H89Q 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short" "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors CPNE6 9362 genome.wustl.edu 36 14 23616333 23616333 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23616333 23616333 C G SNP CPNE6 NM_006032 human genbank 54_36p 1 reviewed missense c.1430 p.S477C 0.99 "superfamily_vWA-like,HMMSmart_SM00327" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_Copine" - no_errors PSME1 5720 genome.wustl.edu 36 14 23677155 23677155 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23677155 23677155 G T SNP PSME1 NM_176783 human genbank 54_36p 1 reviewed missense c.448 p.V150L 1 "superfamily_Prot_act_regA,HMMPfam_PA28_beta" "superfamily_Prot_act_regA,HMMPfam_PA28_alpha,HMMPfam_PA28_beta" - no_errors IRF9 10379 genome.wustl.edu 36 14 23702488 23702488 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23702488 23702488 G T SNP IRF9 NM_006084 human genbank 54_36p 1 validated missense c.426 p.R142S 0.01 NULL "HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3" - no_errors TM9SF1 10548 genome.wustl.edu 36 14 23732000 23732000 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23732000 23732000 G A SNP TM9SF1 NM_006405 human genbank 54_36p -1 validated missense c.661 p.R221C 1 HMMPfam_EMP70 HMMPfam_EMP70 - no_errors NYNRIN 57523 genome.wustl.edu 36 14 23947546 23947546 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 23947546 23947546 C T SNP KIAA1305 NM_025081 human genbank 54_36p 1 validated missense c.830 p.P277L 0.47 NULL "superfamily_DNA/RNA polymerases,superfamily_Ribonuclease H-like" - no_errors CTSG 1511 genome.wustl.edu 36 14 24112714 24112714 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 24112714 24112714 T A SNP CTSG NM_001911 human genbank 54_36p -1 reviewed missense c.737 p.K246I 0 NULL "superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER" - no_errors G2E3 55632 genome.wustl.edu 36 14 30128370 30128374 + Frame_Shift_Del DEL AAAGA AAAGA - novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 AAAGA AAAGA AAAGA - AAAGA AAAGA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 30128370 30128374 AAAGA - DEL G2E3 NM_017769 human genbank 54_36p 1 validated frame_shift_del c.166_170 p.K56fs 0.997:1.000:1.000:1.000:1.000 NULL "HMMSmart_PHD,PatternScan_ZF_PHD_1,HMMSmart_RING,superfamily_HECT,HMMPfam_HECT" "(deletion:cds_exon[30128340,30128441])" no_errors HEATR5A 25938 genome.wustl.edu 36 14 30926116 30926116 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 30926116 30926116 C G SNP HEATR5A NM_015473 human genbank 54_36p -1 validated missense c.271 p.D91H 1 superfamily_ARM repeat "superfamily_ARM repeat,HMMPfam_HEAT" - no_errors ARHGAP5 394 genome.wustl.edu 36 14 31630296 31630296 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 31630296 31630296 G T SNP ARHGAP5 NM_001030055 human genbank 54_36p 1 reviewed missense c.670 p.V224L 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00441,HMMPfam_FF,superfamily_FF domain,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP" - no_errors ARHGAP5 394 genome.wustl.edu 36 14 31631046 31631046 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 31631046 31631046 G A SNP ARHGAP5 NM_001030055 human genbank 54_36p 1 reviewed missense c.1420 p.V474I 1 "HMMSmart_SM00441,superfamily_FF domain" "HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_FF domain,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors AKAP6 9472 genome.wustl.edu 36 14 32363306 32363306 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 32363306 32363306 C G SNP AKAP6 NM_004274 human genbank 54_36p 1 reviewed missense c.6536 p.S2179C 0 NULL "HMMSmart_SM00150,superfamily_Spectrin repeat,PatternScan_PFKB_KINASES_2" - no_errors EAPP 55837 genome.wustl.edu 36 14 34068321 34068321 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 34068321 34068321 C G SNP EAPP NM_018453 human genbank 54_36p -1 reviewed missense c.464 p.R155T 1 HMMPfam_Eapp_C HMMPfam_Eapp_C - no_errors BAZ1A 11177 genome.wustl.edu 36 14 34401181 34401181 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 34401181 34401181 T A SNP BAZ1A NM_013448 human genbank 54_36p -1 validated missense c.212 p.E71V 1 HMMPfam_WAC_Acf1_DNA_bd "HMMPfam_WAC_Acf1_DNA_bd,HMMPfam_DDT,HMMSmart_SM00571,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1" - no_errors PPP2R3C 55012 genome.wustl.edu 36 14 34634084 34634084 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 34634084 34634084 G A SNP PPP2R3C NM_017917 human genbank 54_36p -1 provisional missense c.896 p.S299L 1 superfamily_EF-hand "superfamily_EF-hand,PatternScan_EF_HAND_1" - no_errors RALGAPA1 253959 genome.wustl.edu 36 14 35078573 35078573 + Missense_Mutation SNP T C C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 35078573 35078573 T C SNP GARNL1 NM_194301 human genbank 54_36p -1 provisional missense c.6178 p.M2060V 1 NULL "superfamily_SSF111347,HMMPfam_Rap_GAP" - no_errors RALGAPA1 253959 genome.wustl.edu 36 14 35166288 35166288 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 35166288 35166288 C T SNP GARNL1 NM_194301 human genbank 54_36p -1 provisional missense c.5098 p.G1700R 1 superfamily_SSF111347 "HMMPfam_Rap_GAP,superfamily_SSF111347" - no_errors PAX9 5083 genome.wustl.edu 36 14 36202291 36202291 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 36202291 36202291 C T SNP PAX9 NM_006194 human genbank 54_36p 1 validated missense c.443 p.P148L 1 NULL "HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like,PatternScan_PAIRED_1" - no_errors CLEC14A 161198 genome.wustl.edu 36 14 37793534 37793534 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 37793534 37793534 T C SNP CLEC14A NM_175060 human genbank 54_36p -1 provisional missense c.1445 p.E482G 0 NULL "PatternScan_EGF_1,PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMSmart_EGF,superfamily_SSF57196,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors CLEC14A 161198 genome.wustl.edu 36 14 37794218 37794218 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 37794218 37794218 C A SNP CLEC14A NM_175060 human genbank 54_36p -1 provisional missense c.761 p.G254V 0.01 "HMMSmart_EGF,superfamily_SSF57196" "PatternScan_ASX_HYDROXYL,HMMSmart_CLECT,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196" - no_errors SEC23A 10484 genome.wustl.edu 36 14 38581817 38581817 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 38581817 38581817 A G SNP SEC23A NM_006364 human genbank 54_36p -1 reviewed missense c.1910 p.L637P 1 "superfamily_SSF82754,HMMPfam_Gelsolin" "superfamily_SSF81995,superfamily_Znf_Sec23_Sec24,HMMPfam_zf-Sec23_Sec24,HMMPfam_Sec23_trunk,superfamily_SSF53300,HMMPfam_Sec23_BS,superfamily_Sec23_helical,HMMPfam_Sec23_helical,superfamily_SSF82754,HMMPfam_Gelsolin" - no_errors LRFN5 145581 genome.wustl.edu 36 14 41430900 41430900 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 41430900 41430900 G C SNP LRFN5 NM_152447 human genbank 54_36p 1 validated missense c.2083 p.A695P 1 NULL "HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_fn3,superfamily_FN_III-like" - no_errors FSCB 84075 genome.wustl.edu 36 14 44043813 44043813 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 44043813 44043813 C G SNP FSCB NM_032135 human genbank 54_36p -1 validated missense c.2128 p.E710Q 0.01 NULL NULL - no_errors RPL10L 140801 genome.wustl.edu 36 14 46190488 46190488 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 46190488 46190488 C T SNP RPL10L NM_080746 human genbank 54_36p -1 reviewed missense c.202 p.A68T 1 "superfamily_Ribosomal_L10e/L16,HMMPfam_Ribosomal_L16" "superfamily_Ribosomal_L10e/L16,HMMPfam_Ribosomal_L16,PatternScan_RIBOSOMAL_L10E" - no_errors SOS2 6655 genome.wustl.edu 36 14 49655211 49655211 + Silent SNP C C A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 49655211 49655211 C A SNP SOS2 NM_006939 human genbank 54_36p -1 validated silent c.3600 p.L1200 1 NULL ############################################################################################################################################################################################################################################################### - no_errors SOS2 6655 genome.wustl.edu 36 14 49693585 49693585 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 49693585 49693585 C G SNP SOS2 NM_006939 human genbank 54_36p -1 validated missense c.1939 p.E647Q 1 "HMMPfam_RasGEF_N,HMMSmart_RasGEFN,superfamily_Ras_GEF" ############################################################################################################################################################################################################################################################### - no_errors ATP5S 27109 genome.wustl.edu 36 14 49862185 49862185 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 49862185 49862185 G A SNP ATP5S NM_001003803 human genbank 54_36p 1 reviewed silent c.642 p.L214 0.19 NULL superfamily_RNI-like - no_errors ATP5S 27109 genome.wustl.edu 36 14 49868648 49868648 + Silent SNP G G T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 49868648 49868648 G T SNP ATP5S ENST00000358473 human ensembl 54_36p 1 known silent c.645 p.L215 0 NULL NULL - no_errors NIN 51199 genome.wustl.edu 36 14 50291090 50291090 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 50291090 50291090 C T SNP NIN NM_020921 human genbank 54_36p -1 reviewed missense c.4675 p.E1559K 0.99 NULL "superfamily_EF-hand,HMMPfam_efhand" - no_errors FRMD6 122786 genome.wustl.edu 36 14 51264265 51264265 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 51264265 51264265 A G SNP FRMD6 NM_001042481 human genbank 54_36p 1 validated missense c.1613 p.D538G 1 NULL "HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,superfamily_SSF50729,HMMPfam_FERM_C" - no_errors NID2 22795 genome.wustl.edu 36 14 51604632 51604632 + Splice_Site SNP C C G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 51604632 51604632 C G SNP NID2 NM_007361 human genbank 54_36p -1 validated splice_site c.229-1 e2-1 1 - - - no_errors PTGDR 5729 genome.wustl.edu 36 14 51804674 51804674 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 51804674 51804674 G T SNP PTGDR NM_000953 human genbank 54_36p 1 reviewed missense c.392 p.W131L 1 "superfamily_SSF81321,HMMPfam_7tm_1" "PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1" - no_errors DLGAP5 9787 genome.wustl.edu 36 14 54712398 54712398 + Missense_Mutation SNP A A C novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 54712398 54712398 A C SNP DLGAP5 NM_014750 human genbank 54_36p -1 provisional missense c.1141 p.C381G 0.01 HMMPfam_GKAP HMMPfam_GKAP - no_errors FBXO34 55030 genome.wustl.edu 36 14 54888821 54888821 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 54888821 54888821 T A SNP FBXO34 NM_017943 human genbank 54_36p 1 validated missense c.1960 p.Y654N 1 NULL "superfamily_SSF81383,HMMSmart_FBOX,HMMPfam_F-box" - no_errors OTX2 5015 genome.wustl.edu 36 14 56338774 56338774 + Missense_Mutation SNP T T G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 56338774 56338774 T G SNP OTX2 NM_021728 human genbank 54_36p -1 reviewed missense c.326 p.Q109P 1 NULL "superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_TF_Otx" - no_errors EXOC5 10640 genome.wustl.edu 36 14 56768188 56768188 + Splice_Site SNP T T C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 56768188 56768188 T C SNP EXOC5 NM_006544 human genbank 54_36p -1 reviewed splice_site c.939-2 e11-2 1 - - - no_errors SLC35F4 341880 genome.wustl.edu 36 14 57133217 57133217 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 57133217 57133217 G T SNP SLC35F4 NM_001080455 human genbank 54_36p -1 inferred nonsense c.152 p.S51* 0 NULL "superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_DUF6" - no_errors ARID4A 5926 genome.wustl.edu 36 14 57884344 57884344 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 57884344 57884344 C G SNP ARID4A NM_002892 human genbank 54_36p 1 reviewed missense c.1399 p.P467A 1 NULL "HMMSmart_SM00333,HMMPfam_RBB1NT,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,HMMSmart_SM00298" - no_errors ARID4A 5926 genome.wustl.edu 36 14 57901182 57901182 + Silent SNP A A T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 57901182 57901182 A T SNP ARID4A NM_002892 human genbank 54_36p 1 reviewed silent c.2622 p.G874 0.95 NULL "HMMSmart_SM00298,HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,HMMSmart_SM00333,HMMPfam_RBB1NT" - no_errors C14orf149 112849 genome.wustl.edu 36 14 59015712 59015712 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59015712 59015712 C G SNP C14orf149 NM_144581 human genbank 54_36p -1 provisional missense c.619 p.A207P 1 "superfamily_Diaminopimelate epimerase-like,HMMPfam_Pro_racemase" "superfamily_Diaminopimelate epimerase-like,HMMPfam_Pro_racemase" - no_errors RTN1 6252 genome.wustl.edu 36 14 59263426 59263426 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59263426 59263426 C T SNP RTN1 NM_021136 human genbank 54_36p -1 reviewed missense c.1729 p.A577T 0 NULL "HMMPfam_Reticulon,PatternScan_HISTONE_H4" - no_errors RTN1 6252 genome.wustl.edu 36 14 59282307 59282307 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59282307 59282307 G T SNP RTN1 NM_021136 human genbank 54_36p -1 reviewed missense c.887 p.T296N 0.25 NULL "HMMPfam_Reticulon,PatternScan_HISTONE_H4" - no_errors DHRS7 51635 genome.wustl.edu 36 14 59685860 59685860 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59685860 59685860 C T SNP DHRS7 ENST00000360557 human ensembl 54_36p -1 known nonsense c.932 p.W311* 0.04 NULL "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT" - no_errors C14orf39 317761 genome.wustl.edu 36 14 59973399 59973399 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59973399 59973399 G C SNP C14orf39 NM_174978 human genbank 54_36p -1 validated missense c.1681 p.Q561E 1 NULL NULL - no_errors C14orf39 317761 genome.wustl.edu 36 14 59973446 59973446 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 59973446 59973446 G A SNP C14orf39 NM_174978 human genbank 54_36p -1 validated missense c.1634 p.T545I 1 NULL NULL - no_errors SLC38A6 145389 genome.wustl.edu 36 14 60615398 60615398 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 14 60615398 60615398 G C SNP SLC38A6 ENST00000354886 human ensembl 54_36p 1 known missense c.1408 p.G470R 0 NULL HMMPfam_Aa_trans - no_errors KCNH5 27133 genome.wustl.edu 36 14 62486626 62486626 + Silent SNP C C T novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 62486626 62486626 C T SNP KCNH5 NM_139318 human genbank 54_36p -1 reviewed silent c.1347 p.S449 0.56 "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans" "superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding" - no_errors GPHB5 122876 genome.wustl.edu 36 14 62849570 62849570 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 62849570 62849570 T C SNP GPHB5 NM_145171 human genbank 54_36p -1 validated missense c.217 p.N73D 1 NULL NULL - no_errors SYNE2 23224 genome.wustl.edu 36 14 63527028 63527028 + Silent SNP A A G novel Unknown TCGA-13-1405-01A-01W-0494-09 TCGA-13-1405-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 63527028 63527028 A G SNP SYNE2 NM_182914 human genbank 54_36p 1 validated silent c.2460 p.K820 0.99 NULL "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH" - no_errors SYNE2 23224 genome.wustl.edu 36 14 63750739 63750739 + Silent SNP T T G novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 63750739 63750739 T G SNP SYNE2 NM_182914 human genbank 54_36p 1 validated silent c.19131 p.S6377 0.04 NULL "PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin" - no_errors MTHFD1 4522 genome.wustl.edu 36 14 63956295 63956295 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 63956295 63956295 G C SNP MTHFD1 NM_005956 human genbank 54_36p 1 reviewed missense c.626 p.G209A 1 "superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_THF_DHG_CYH_C" ############################################################################################################################################################################################################################################################### - no_errors ZBTB1 22890 genome.wustl.edu 36 14 64059932 64059932 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 64059932 64059932 A T SNP ZBTB1 ENST00000394712 human ensembl 54_36p 1 known missense c.1957 p.M653L 1 HMMSmart_ZnF_C2H2 "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,superfamily_SSF57667,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SPTB 6710 genome.wustl.edu 36 14 64309076 64309076 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 64309076 64309076 C T SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.5528 p.R1843Q 0.99 "HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC" "superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH" - no_errors GPX2 2877 genome.wustl.edu 36 14 64476019 64476019 + Silent SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 64476019 64476019 G C SNP GPX2 NM_002083 human genbank 54_36p -1 reviewed silent c.513 p.R171 1 superfamily_Thioredoxin-like "superfamily_Thioredoxin-like,HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2" - pseudogene RAB15 376267 genome.wustl.edu 36 14 64486834 64486834 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 64486834 64486834 C A SNP RAB15 NM_198686 human genbank 54_36p -1 validated missense c.507 p.R169S 1 NULL "superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras,PatternScan_SIGMA54_INTERACT_1" - no_errors GPHN 10243 genome.wustl.edu 36 14 66595242 66595242 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66595242 66595242 T A SNP GPHN NM_020806 human genbank 54_36p 1 reviewed missense c.1130 p.I377N 1 "superfamily_MoeA_N,HMMPfam_MoeA_N" "superfamily_MoCF_biosynth,HMMPfam_MoCF_biosynth,PatternScan_MOCF_BIOSYNTHESIS_1,superfamily_MoeA_N,HMMPfam_MoeA_N,PatternScan_MOCF_BIOSYNTHESIS_2,superfamily_MoeA_C,HMMPfam_MoeA_C" - no_errors GPHN 10243 genome.wustl.edu 36 14 66705481 66705481 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66705481 66705481 C T SNP GPHN NM_020806 human genbank 54_36p 1 reviewed missense c.2054 p.P685L 1 superfamily_MoCF_biosynth "HMMPfam_MoCF_biosynth,superfamily_MoCF_biosynth,HMMPfam_MoeA_N,superfamily_MoeA_N,HMMPfam_MoeA_C,superfamily_MoeA_C,PatternScan_MOCF_BIOSYNTHESIS_1,PatternScan_MOCF_BIOSYNTHESIS_2" - no_errors MPP5 64398 genome.wustl.edu 36 14 66860274 66860274 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66860274 66860274 A T SNP MPP5 NM_022474 human genbank 54_36p 1 validated missense c.1843 p.N615Y 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072" ############################################################################################################################################################################################################################################################### - no_errors ATP6V1D 51382 genome.wustl.edu 36 14 66875111 66875111 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66875111 66875111 C T SNP ATP6V1D NM_015994 human genbank 54_36p -1 reviewed missense c.724 p.E242K 1 NULL HMMPfam_ATP-synt_D - no_errors PLEK2 26499 genome.wustl.edu 36 14 66931898 66931898 + Silent SNP G G A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 66931898 66931898 G A SNP PLEK2 NM_016445 human genbank 54_36p -1 provisional silent c.363 p.F121 1 superfamily_SSF50729 "superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP" - no_errors ZFYVE26 23503 genome.wustl.edu 36 14 67292496 67292496 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 67292496 67292496 C A SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed missense c.6708 p.K2236N 0.75 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger" - no_errors DCAF5 8816 genome.wustl.edu 36 14 68591701 68591701 + Silent SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 68591701 68591701 G T SNP WDR22 NM_003861 human genbank 54_36p -1 validated silent c.1455 p.P485 1 NULL "HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like" - no_errors KIAA0247 9766 genome.wustl.edu 36 14 69247448 69247448 + Silent SNP G G A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 69247448 69247448 G A SNP KIAA0247 NM_014734 human genbank 54_36p 1 validated silent c.911 p.*304 1 NULL "superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP" - no_errors SLC8A3 6547 genome.wustl.edu 36 14 69588460 69588460 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 69588460 69588460 C A SNP SLC8A3 NM_183002 human genbank 54_36p -1 reviewed missense c.2031 p.K677N 1 NULL "HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_Na_Ca_ex" - no_errors SIPA1L1 26037 genome.wustl.edu 36 14 71125433 71125433 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 71125433 71125433 C G SNP SIPA1L1 NM_015556 human genbank 54_36p 1 provisional missense c.1091 p.S364C 0.99 NULL "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors SIPA1L1 26037 genome.wustl.edu 36 14 71155239 71155239 + Missense_Mutation SNP A G G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 71155239 71155239 A G SNP SIPA1L1 NM_015556 human genbank 54_36p 1 provisional missense c.1511 p.Y504C 1 superfamily_Rap/Ran-GAP (Pfam 02145) "HMMPfam_Rap_GAP,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_Rap/Ran-GAP (Pfam 02145)" - no_errors PAPLN 89932 genome.wustl.edu 36 14 72787459 72787459 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 72787459 72787459 C A SNP PAPLN NM_173462 human genbank 54_36p 1 validated missense c.557 p.A186E 0.89 HMMPfam_ADAM_spacer1 "superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMSmart_KU,HMMPfam_Kunitz_BPTI,superfamily_Prot_inh_Kunz-m,PatternScan_BPTI_KUNITZ_1,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,HMMPfam_PLAC" - no_errors NUMB 8650 genome.wustl.edu 36 14 72813133 72813133 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1349-01A-01W-0494-09 TCGA-04-1349-11A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 72813133 72813133 G A SNP NUMB NM_001005743 human genbank 54_36p -1 reviewed missense c.1862 p.A621V 1 NULL "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,HMMPfam_NumbF" - no_errors PNMA1 9240 genome.wustl.edu 36 14 73249466 73249466 + Silent SNP G G A novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 73249466 73249466 G A SNP PNMA1 NM_006029 human genbank 54_36p -1 validated silent c.630 p.A210 0.33 NULL NULL - no_errors C14orf43 91748 genome.wustl.edu 36 14 73275140 73275140 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 73275140 73275140 C G SNP C14orf43 NM_001043318 human genbank 54_36p -1 validated missense c.1325 p.C442S 0.94 NULL "HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding" - no_errors VSX2 338917 genome.wustl.edu 36 14 73781670 73781670 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 73781670 73781670 G A SNP VSX2 NM_182894 human genbank 54_36p 1 validated missense c.505 p.E169K 1 "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR" - no_errors KIAA0317 9870 genome.wustl.edu 36 14 74219932 74219932 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 74219932 74219932 G A SNP KIAA0317 NM_001039479 human genbank 54_36p -1 validated missense c.301 p.H101Y 1 superfamily_E set domains "superfamily_E set domains,HMMPfam_Filamin,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT" - no_errors RPS6KL1 83694 genome.wustl.edu 36 14 74443539 74443539 + Silent SNP T T C novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 74443539 74443539 T C SNP RPS6KL1 NM_031464 human genbank 54_36p -1 validated silent c.1488 p.E496 0.99 "superfamily_Kinase_like,HMMPfam_Pkinase" "HMMSmart_MIT,HMMPfam_MIT,superfamily_Kinase_like,HMMPfam_Pkinase" - no_errors FOS 2353 genome.wustl.edu 36 14 74817470 74817470 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 74817470 74817470 A C SNP FOS NM_005252 human genbank 54_36p 1 reviewed missense c.733 p.N245H 0 NULL "HMMSmart_SM00338,HMMPfam_bZIP_2,PatternScan_BZIP_BASIC" - no_errors BATF 10538 genome.wustl.edu 36 14 75061284 75061284 + Silent SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 75061284 75061284 G C SNP BATF NM_006399 human genbank 54_36p 1 reviewed silent c.168 p.L56 1 "HMMPfam_bZIP_1,HMMSmart_BRLZ" "HMMPfam_bZIP_1,HMMSmart_BRLZ,PatternScan_BZIP_BASIC" - no_errors TTLL5 23093 genome.wustl.edu 36 14 75319416 75319416 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 75319416 75319416 C T SNP TTLL5 NM_015072 human genbank 54_36p 1 validated missense c.2776 p.P926S 0.36 NULL "HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like" - no_errors ESRRB 2103 genome.wustl.edu 36 14 75975583 75975583 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 75975583 75975583 T C SNP ESRRB NM_004452 human genbank 54_36p 1 reviewed missense c.134 p.F45S 1 NULL "superfamily_SSF57716,HMMSmart_ZnF_C4,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep" - no_errors SNW1 22938 genome.wustl.edu 36 14 77273125 77273125 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 77273125 77273125 G C SNP SNW1 NM_012245 human genbank 54_36p -1 reviewed missense c.580 p.Q194E 1 HMMPfam_SKIP_SNW HMMPfam_SKIP_SNW - no_errors C14orf178 283579 genome.wustl.edu 36 14 77305763 77305763 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 77305763 77305763 G T SNP C14orf178 NM_174943 human genbank 54_36p 1 predicted missense c.358 p.A120S 0 NULL NULL - no_errors NRXN3 9369 genome.wustl.edu 36 14 77779249 77779249 + Silent SNP C C G novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 77779249 77779249 C G SNP NRXN3 ENST00000330071 human ensembl 54_36p 1 known silent c.60 p.S20 0.46 superfamily_Concanavalin A-like lectins/glucanases "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMSmart_SM00294" - no_errors TSHR 7253 genome.wustl.edu 36 14 80679090 80679090 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 80679090 80679090 G C SNP TSHR NM_000369 human genbank 54_36p 1 reviewed missense c.935 p.R312T 0.96 superfamily_L domain-like "superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors SEL1L 6400 genome.wustl.edu 36 14 81034573 81034573 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 81034573 81034573 C T SNP SEL1L NM_005065 human genbank 54_36p -1 validated missense c.910 p.G304S 1 "superfamily_HCP-like,HMMPfam_Sel1,HMMSmart_SM00671" "superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like" - no_errors FLRT2 23768 genome.wustl.edu 36 14 85158757 85158757 + Silent SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 85158757 85158757 G A SNP FLRT2 NM_013231 human genbank 54_36p 1 reviewed silent c.1146 p.Q382 0 NULL "superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like" - no_errors FLRT2 23768 genome.wustl.edu 36 14 85159438 85159438 + Silent SNP C C T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 85159438 85159438 C T SNP FLRT2 NM_013231 human genbank 54_36p 1 reviewed silent c.1827 p.I609 1 NULL "HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,superfamily_SSF52058" - no_errors KCNK10 54207 genome.wustl.edu 36 14 87799467 87799467 + Silent SNP A A C novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 87799467 87799467 A C SNP KCNK10 NM_138317 human genbank 54_36p -1 reviewed silent c.234 p.V78 1 superfamily_Voltage-gated potassium channels "superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2" - no_errors SPATA7 55812 genome.wustl.edu 36 14 87952878 87952878 + Silent SNP T T G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 87952878 87952878 T G SNP SPATA7 NM_018418 human genbank 54_36p 1 validated silent c.309 p.T103 0.15 NULL NULL - no_errors EML5 161436 genome.wustl.edu 36 14 88275019 88275019 + Silent SNP T T C novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 88275019 88275019 T C SNP EML5 NM_183387 human genbank 54_36p -1 validated silent c.804 p.P268 1 superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase "HMMPfam_HELP,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1" - no_errors FOXN3 1112 genome.wustl.edu 36 14 88698683 88698683 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 88698683 88698683 G A SNP FOXN3 NM_001085471 human genbank 54_36p -1 reviewed missense c.1301 p.T434I 1 NULL "HMMSmart_SM00339,superfamily_Winged helix DNA-binding domain,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors TDP1 55775 genome.wustl.edu 36 14 89499549 89499552 + Frame_Shift_Del DEL AGAA AGAA - novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 AGAA AGAA AGAA - AGAA AGAA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 89499549 89499552 AGAA - DEL TDP1 NM_001008744 human genbank 54_36p 1 reviewed frame_shift_del c.338_341 p.K114fs 0.643:0.282:0.061:0.048 NULL "superfamily_SSF56024,HMMPfam_Tyr-DNA_phospho" "(deletion:cds_exon[89499212,89499770])" no_errors C14orf102 55051 genome.wustl.edu 36 14 89854202 89854202 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 89854202 89854202 A C SNP C14orf102 NM_017970 human genbank 54_36p -1 validated missense c.73 p.W25G 1 NULL "superfamily_Prenyl_trans,HMMPfam_DUF1740" - no_errors TTC7B 145567 genome.wustl.edu 36 14 90266244 90266244 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 90266244 90266244 G T SNP TTC7B NM_001010854 human genbank 54_36p -1 provisional missense c.626 p.P209H 1 superfamily_TPR-like "superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,HMMPfam_TPR_2" - no_errors RPS6KA5 9252 genome.wustl.edu 36 14 90456321 90456321 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 90456321 90456321 G C SNP RPS6KA5 NM_004755 human genbank 54_36p -1 validated missense c.788 p.S263C 1 "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase" "superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C" - no_errors CCDC88C 440193 genome.wustl.edu 36 14 90841994 90841994 + Silent SNP C G G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 90841994 90841994 C G SNP CCDC88C NM_001080414 human genbank 54_36p -1 validated silent c.3225 p.L1075 1 NULL superfamily_Prefoldin - no_errors CCDC88C 440193 genome.wustl.edu 36 14 90849506 90849506 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 90849506 90849506 G C SNP CCDC88C NM_001080414 human genbank 54_36p -1 validated missense c.2407 p.L803V 0.89 NULL superfamily_Prefoldin - no_errors SMEK1 55671 genome.wustl.edu 36 14 91001386 91001386 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91001386 91001386 C A SNP SMEK1 NM_032560 human genbank 54_36p -1 validated missense c.1752 p.M584I 1 NULL "superfamily_SSF50729,HMMPfam_DUF625,superfamily_ARM-type_fold" - no_errors FBLN5 10516 genome.wustl.edu 36 14 91417405 91417405 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91417405 91417405 G C SNP FBLN5 NM_006329 human genbank 54_36p -1 reviewed missense c.973 p.L325V 1 "HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin" "superfamily_EGF/Laminin,HMMPfam_EGF_CA,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_Serine proterase inhibitors,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2" - no_errors TRIP11 9321 genome.wustl.edu 36 14 91510766 91510766 + Silent SNP G G C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91510766 91510766 G C SNP TRIP11 NM_004239 human genbank 54_36p -1 validated silent c.5532 p.P1844 1 NULL NULL - no_errors TRIP11 9321 genome.wustl.edu 36 14 91510767 91510767 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91510767 91510767 G C SNP TRIP11 NM_004239 human genbank 54_36p -1 validated missense c.5531 p.P1844R 1 NULL NULL - no_errors TRIP11 9321 genome.wustl.edu 36 14 91542437 91542437 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91542437 91542437 G A SNP TRIP11 NM_004239 human genbank 54_36p -1 validated missense c.1636 p.L546F 0.32 NULL NULL - no_errors CPSF2 53981 genome.wustl.edu 36 14 91697797 91697797 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 91697797 91697797 T G SNP CPSF2 NM_017437 human genbank 54_36p 1 validated missense c.2305 p.Y769D 1 NULL "superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B,HMMPfam_RMMBL" - no_errors SLC24A4 123041 genome.wustl.edu 36 14 92022774 92022774 + Silent SNP C C T novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 92022774 92022774 C T SNP SLC24A4 NM_153646 human genbank 54_36p 1 validated silent c.1383 p.I461 1 HMMPfam_Na_Ca_ex HMMPfam_Na_Ca_ex - no_errors KIAA1409 57578 genome.wustl.edu 36 14 93149139 93149139 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 93149139 93149139 G A SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated missense c.3467 p.R1156H 1 NULL NULL - no_errors KIAA1409 57578 genome.wustl.edu 36 14 93190066 93190066 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 14 93190066 93190066 C T SNP KIAA1409 NM_020818 human genbank 54_36p 1 validated missense c.5810 p.S1937L 1 NULL NULL - no_errors OTUB2 78990 genome.wustl.edu 36 14 93580777 93580777 + Silent SNP G G T novel Unknown TCGA-24-1426-01A-01W-0549-09 TCGA-24-1426-10A-01W-0549-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14 93580777 93580777 G T SNP OTUB2 NM_023112 human genbank 54_36p 1 validated silent c.396 p.V132 1 "HMMPfam_Peptidase_C65,superfamily_Cysteine proteinases" "HMMPfam_Peptidase_C65,superfamily_Cysteine proteinases" - no_errors DDX24 57062 genome.wustl.edu 36 14 93598574 93598574 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 93598574 93598574 C G SNP DDX24 NM_020414 human genbank 54_36p -1 reviewed missense c.865 p.G289R 0 "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD" "superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C" - no_errors SERPINA10 51156 genome.wustl.edu 36 14 93820080 93820080 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 93820080 93820080 C A SNP SERPINA10 NM_001100607 human genbank 54_36p -1 validated missense c.1310 p.R437M 1 "superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" "PatternScan_SERPIN,superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN" - no_errors SERPINA5 5104 genome.wustl.edu 36 14 94128255 94128255 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 94128255 94128255 G A SNP SERPINA5 NM_000624 human genbank 54_36p 1 validated missense c.1147 p.V383M 0 "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" "superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN" - no_errors DICER1 23405 genome.wustl.edu 36 14 94644433 94644433 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 94644433 94644433 G A SNP DICER1 NM_030621 human genbank 54_36p -1 reviewed missense c.2417 p.T806M 1 NULL ############################################################################################################################################################################################################################################################### - no_errors TCL1B 9623 genome.wustl.edu 36 14 95226939 95226939 + Silent SNP C C T novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 14 95226939 95226939 C T SNP TCL1B NM_004918 human genbank 54_36p 1 validated silent c.276 p.P92 0 "HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1" "HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1" - no_errors BDKRB2 624 genome.wustl.edu 36 14 95777499 95777499 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 95777499 95777499 A T SNP BDKRB2 NM_000623 human genbank 54_36p 1 reviewed missense c.1081 p.I361F 0 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors BDKRB2 624 genome.wustl.edu 36 14 95777581 95777581 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 14 95777581 95777581 G A SNP BDKRB2 NM_000623 human genbank 54_36p 1 reviewed missense c.1163 p.G388E 0 NULL "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like" - no_errors uc003vxi.2 0 genome.wustl.edu 36 7 141667577 141667577 + Silent SNP T T C novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141667577 141667577 T C SNP uc003vxi.2 ENST00000390352 human ensembl 54_36p 1 known silent c.72 p.T24 0 "HMMPfam_V-set,superfamily_SSF48726" "HMMPfam_V-set,superfamily_SSF48726" - no_stop_codon:bad_bp_length_for_coding_region uc003vyo.2 0 genome.wustl.edu 36 7 141838407 141838407 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141838407 141838407 C A SNP uc003vyo.2 ENST00000390371 human ensembl 54_36p 1 known missense c.266 p.T89N 0 "HMMPfam_V-set,superfamily_SSF48726" "HMMPfam_V-set,superfamily_SSF48726" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211729 0 genome.wustl.edu 36 7 141876211 141876211 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141876211 141876211 A G SNP ENSG00000211729 ENST00000390376 human ensembl 54_36p 1 known missense c.272 p.D91G 0 "superfamily_SSF48726,HMMPfam_V-set" "superfamily_SSF48726,HMMPfam_V-set" - no_stop_codon:bad_bp_length_for_coding_region uc003vzj.1 0 genome.wustl.edu 36 7 141952571 141952571 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 141952571 141952571 A G SNP uc003vzj.1 ENST00000390387 human ensembl 54_36p 1 known missense c.74 p.Q25R 0.75 "HMMPfam_V-set,superfamily_SSF48726" "HMMPfam_V-set,superfamily_SSF48726" - no_stop_codon:bad_bp_length_for_coding_region LOC401131 401131 genome.wustl.edu 36 1 142051456 142051456 + RNA SNP A A C novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 142051456 142051456 A C SNP LOC401131 XR_017704 human genbank 54_36p -1 model rna NULL NULL 0.85 - - - no_errors uc003wae.2 0 genome.wustl.edu 36 7 142108338 142108338 + Silent SNP T T C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 142108338 142108338 T C SNP uc003wae.2 ENST00000390400 human ensembl 54_36p 1 known silent c.117 p.F39 0 "HMMPfam_V-set,superfamily_SSF48726" "HMMPfam_V-set,superfamily_SSF48726" - no_stop_codon:bad_bp_length_for_coding_region ENSG00000208891 0 genome.wustl.edu 36 4 142438465 142438465 + RNA SNP C C G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 142438465 142438465 C G SNP ENSG00000208891 ENST00000386156 human ensembl 54_36p -1 novel rna NULL NULL 0 - - - pseudogene PDIA3P 171423 genome.wustl.edu 36 1 145116736 145116736 + RNA SNP G G T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 145116736 145116736 G T SNP PDIA3P NR_002305 human genbank 54_36p 1 provisional rna NULL NULL 0 - - - pseudogene LOC100128116 100128116 genome.wustl.edu 36 5 146067018 146067018 + RNA SNP C C G novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5 146067018 146067018 C G SNP LOC100128116 XR_039194 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene MIR513A1 574509 genome.wustl.edu 36 X 146102784 146102784 + RNA SNP G G T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 146102784 146102784 G T SNP MIRN513A1 ENST00000385138 human ensembl 54_36p -1 known rna NULL NULL 0.3 - - - no_errors uc002goi.1 0 genome.wustl.edu 36 17 14623918 14623918 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 17 14623918 14623918 A T SNP uc002goi.1 ENST00000379640 human ensembl 54_36p -1 known nonsense c.294 p.C98* 0 NULL NULL - no_errors LOC100131547 100131547 genome.wustl.edu 36 12 14658721 14658721 + Splice_Site SNP A A G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 12 14658721 14658721 A G SNP LOC100131547 XM_001722468 human genbank 54_36p 1 model splice_site c.109-2 e3-2 0 - - - no_errors PABPC1P2 728773 genome.wustl.edu 36 2 147062247 147062247 + Silent SNP T T C novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 147062247 147062247 T C SNP PABPCP2 ENST00000359464 human ensembl 54_36p 1 known silent c.237 p.N79 0.53 "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" "superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1" - no_errors PABPC1P2 728773 genome.wustl.edu 36 2 147062571 147062571 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2 147062571 147062571 A C SNP PABPCP2 ENST00000359464 human ensembl 54_36p 1 known missense c.561 p.L187F 1 superfamily_SSF54928 "HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928" - no_errors DRD5P2 1818 genome.wustl.edu 36 1 147170059 147170059 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1549-01A-01W-0553-09 TCGA-24-1549-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 1 147170059 147170059 G A SNP DRD5P2 ENST00000331689 human ensembl 54_36p 1 known missense c.442 p.A148T 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_start_codon:no_stop_codon LOC643438 643438 genome.wustl.edu 36 7 147965567 147965567 + RNA SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 147965567 147965567 C T SNP LOC643438 XR_015310 human genbank 54_36p 1 model rna NULL NULL 1 - - - no_errors uc003wgu.1 0 genome.wustl.edu 36 7 149614437 149614437 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 7 149614437 149614437 G T SNP uc003wgu.1 ENST00000252071 human ensembl 54_36p -1 known missense c.423 p.D141E 1 "HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain" "superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268" - no_errors TARSL2 123283 genome.wustl.edu 36 15 100043728 100043728 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 100043728 100043728 G A SNP TARSL2 NM_152334 human genbank 54_36p -1 validated missense c.1381 p.L461F 1 "superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b" "HMMPfam_TGS,superfamily_TGS-like,superfamily_ThrRS/AlaRS common domain,HMMPfam_tRNA_SAD,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b,superfamily_Anticodon-binding domain of Class II aaRS,HMMPfam_HGTP_anticodon" - no_errors OR4F6 390648 genome.wustl.edu 36 15 100163773 100163773 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 100163773 100163773 A T SNP OR4F6 NM_001005326 human genbank 54_36p 1 provisional missense c.328 p.T110S 0 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4G2P 26680 genome.wustl.edu 36 15 100285023 100285023 + Silent SNP A G G novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 100285023 100285023 A G SNP OR4G2P ENST00000328113 human ensembl 54_36p -1 known silent c.345 p.N115 0.03 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors RHPN2P1 646090 genome.wustl.edu 36 15 18693880 18693880 + RNA SNP C C G novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 18693880 18693880 C G SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 0 - - - pseudogene RHPN2P1 646090 genome.wustl.edu 36 15 18694021 18694021 + RNA SNP T T A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 18694021 18694021 T A SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RHPN2P1 646090 genome.wustl.edu 36 15 18722625 18722625 + RNA SNP C C G novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 18722625 18722625 C G SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene LOC646139 646139 genome.wustl.edu 36 15 18981653 18981653 + RNA SNP C C A novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 15 18981653 18981653 C A SNP LOC646139 XR_037550 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene ENSG00000181984 0 genome.wustl.edu 36 15 19037934 19037934 + Silent SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 15 19037934 19037934 G A SNP ENSG00000181984 ENST00000318268 human ensembl 54_36p 1 known silent c.1650 p.V550 0 NULL NULL - no_errors OR4M2 390538 genome.wustl.edu 36 15 19870123 19870123 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19870123 19870123 C A SNP OR4M2 NM_001004719 human genbank 54_36p 1 provisional missense c.184 p.L62M 0.97 "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors OR4N4 283694 genome.wustl.edu 36 15 19884234 19884234 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19884234 19884234 C A SNP OR4N4 NM_001005241 human genbank 54_36p 1 provisional nonsense c.398 p.S133* 0 "superfamily_SSF81321,HMMPfam_7tm_1" "superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1" - no_errors OR4N4 283694 genome.wustl.edu 36 15 19884684 19884684 + Missense_Mutation SNP A A T novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19884684 19884684 A T SNP OR4N4 NM_001005241 human genbank 54_36p 1 provisional missense c.848 p.N283I 1 "HMMPfam_7tm_1,superfamily_SSF81321" "HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321" - no_errors LOC388076 388076 genome.wustl.edu 36 15 19941744 19941744 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19941744 19941744 G A SNP LOC388076 XM_931016 human genbank 54_36p -1 model missense c.467 p.A156V 1 HMMPfam_Ribosomal_S8e HMMPfam_Ribosomal_S8e - pseudogene LOC388076 388076 genome.wustl.edu 36 15 19941836 19941836 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 19941836 19941836 C G SNP LOC388076 XM_931016 human genbank 54_36p -1 model missense c.375 p.K125N 1 HMMPfam_Ribosomal_S8e HMMPfam_Ribosomal_S8e - pseudogene CYFIP1 23191 genome.wustl.edu 36 15 20481213 20481213 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 20481213 20481213 G A SNP CYFIP1 NM_014608 human genbank 54_36p 1 validated missense c.446 p.R149K 1 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors CYFIP1 23191 genome.wustl.edu 36 15 20520687 20520687 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 20520687 20520687 G A SNP CYFIP1 NM_014608 human genbank 54_36p 1 validated missense c.2472 p.M824I 1 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors SNRPN 6638 genome.wustl.edu 36 15 22774522 22774522 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 22774522 22774522 C G SNP SNRPN NM_003097 human genbank 54_36p 1 reviewed missense c.649 p.P217A 1 NULL "superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651" - no_errors SNORD116-6 100033418 genome.wustl.edu 36 15 22861302 22861302 + RNA DEL G G - novel Unknown TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 G G G - G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 22861302 22861302 G - DEL SNORD116-6 NR_003321 human genbank 54_36p 1 provisional rna NULL NULL 1 - - "(deletion:rna[22861265,22861362])" no_errors GABRA5 2558 genome.wustl.edu 36 15 24679590 24679590 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 24679590 24679590 A T SNP GABRA5 ENST00000335625 human ensembl 54_36p 1 known missense c.290 p.D97V 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors OCA2 4948 genome.wustl.edu 36 15 25674149 25674149 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 25674149 25674149 C A SNP OCA2 NM_000275 human genbank 54_36p -1 reviewed missense c.2497 p.V833L 0.57 NULL HMMPfam_CitMHS - no_errors HERC2 8924 genome.wustl.edu 36 15 26110869 26110869 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 26110869 26110869 G C SNP HERC2 NM_004667 human genbank 54_36p -1 validated missense c.8284 p.R2762G 1 superfamily_Galactose-binding domain-like ############################################################################################################################################################################################################################################################### - no_errors HERC2 8924 genome.wustl.edu 36 15 26132886 26132886 + Silent SNP G G A novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 26132886 26132886 G A SNP HERC2 NM_004667 human genbank 54_36p -1 validated silent c.6486 p.L2162 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HERC2 8924 genome.wustl.edu 36 15 26184666 26184666 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 26184666 26184666 C T SNP HERC2 NM_004667 human genbank 54_36p -1 validated missense c.1648 p.G550R 1 "HMMPfam_RCC1,superfamily_RCC1/BLIP-II" ############################################################################################################################################################################################################################################################### - no_errors LOC653720 653720 genome.wustl.edu 36 15 26752020 26752020 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 26752020 26752020 C T SNP LOC653720 XM_001724258 human genbank 54_36p -1 model missense c.506 p.R169H 0.82 NULL NULL - no_errors TJP1 7082 genome.wustl.edu 36 15 27799406 27799406 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 27799406 27799406 T A SNP TJP1 NM_003257 human genbank 54_36p -1 validated missense c.2870 p.E957V 1 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMPfam_SH3_2,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C,HMMPfam_ZU5,HMMSmart_SM00218" - no_errors LOC400347 400347 genome.wustl.edu 36 15 29533346 29533346 + RNA SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 29533346 29533346 G A SNP LOC400347 XR_016518 human genbank 54_36p -1 model rna NULL NULL 0.48 - - - pseudogene CHRNA7 1139 genome.wustl.edu 36 15 30237995 30237995 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 30237995 30237995 C T SNP CHRNA7 NM_000746 human genbank 54_36p 1 reviewed missense c.689 p.T230M 1 "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,superfamily_Neu_channel_TM" "superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb" - no_errors RYR3 6263 genome.wustl.edu 36 15 31837038 31837038 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 31837038 31837038 C A SNP RYR3 NM_001036 human genbank 54_36p 1 validated missense c.8654 p.P2885H 1 NULL "HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans" - no_errors ZNF770 54989 genome.wustl.edu 36 15 33061340 33061340 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 33061340 33061340 G A SNP ZNF770 NM_014106 human genbank 54_36p -1 validated missense c.1588 p.P530S 1 NULL "superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors MEIS2 4212 genome.wustl.edu 36 15 35177473 35177473 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 35177473 35177473 C T SNP MEIS2 NM_170675 human genbank 54_36p -1 reviewed missense c.232 p.D78N 1 NULL "superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox" - no_errors FAM98B 283742 genome.wustl.edu 36 15 36544776 36544776 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 36544776 36544776 G C SNP FAM98B NM_173611 human genbank 54_36p 1 validated missense c.232 p.E78Q 1 HMMPfam_DUF2465 HMMPfam_DUF2465 - no_errors RASGRP1 10125 genome.wustl.edu 36 15 36591122 36591122 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 36591122 36591122 G A SNP RASGRP1 NM_005739 human genbank 54_36p -1 reviewed missense c.941 p.S314L 1 "superfamily_Ras GEF,HMMPfam_RasGEF,HMMSmart_SM00147" "superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1" - no_errors FSIP1 161835 genome.wustl.edu 36 15 37843406 37843406 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 37843406 37843406 G T SNP FSIP1 NM_152597 human genbank 54_36p -1 validated missense c.467 p.S156Y 0.14 NULL NULL - no_errors BUB1B 701 genome.wustl.edu 36 15 38297101 38297101 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38297101 38297101 C T SNP BUB1B NM_001211 human genbank 54_36p 1 validated missense c.2791 p.R931W 1 superfamily_Protein kinase-like (PK-like) "superfamily_Protein kinase-like (PK-like),HMMPfam_Mad3_BUB1_I,HMMSmart_SM00777" - no_errors PLCB2 5330 genome.wustl.edu 36 15 38382800 38382800 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38382800 38382800 T G SNP PLCB2 NM_004573 human genbank 54_36p -1 validated missense c.212 p.K71T 1 NULL "superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C" - no_errors C15orf23 90417 genome.wustl.edu 36 15 38471498 38471498 + Silent SNP G G A novel Unknown TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 38471498 38471498 G A SNP C15orf23 NM_033286 human genbank 54_36p 1 validated silent c.804 p.K268 1 NULL NULL - no_errors IVD 3712 genome.wustl.edu 36 15 38487138 38487138 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 38487138 38487138 A G SNP IVD NM_002225 human genbank 54_36p 1 reviewed missense c.154 p.T52A 1 "superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N" "superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like,PatternScan_ACYL_COA_DH_2" - no_errors C15orf57 90416 genome.wustl.edu 36 15 38642302 38642302 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38642302 38642302 C G SNP C15orf57 NM_001080791 human genbank 54_36p -1 validated missense c.232 p.A78P 1 NULL NULL - no_errors GCHFR 2644 genome.wustl.edu 36 15 38846742 38846742 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38846742 38846742 C T SNP GCHFR NM_005258 human genbank 54_36p 1 reviewed missense c.158 p.P53L 1 "HMMPfam_GFRP,superfamily_GTP cyclohydrolase I feedback regulatory protein GFRP" "HMMPfam_GFRP,superfamily_GTP cyclohydrolase I feedback regulatory protein GFRP" - no_errors SPINT1 6692 genome.wustl.edu 36 15 38933038 38933038 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38933038 38933038 G C SNP SPINT1 NM_181642 human genbank 54_36p 1 reviewed missense c.663 p.Q221H 1 NULL "HMMPfam_MANEC,HMMSmart_SM00765,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1" - no_errors VPS18 57617 genome.wustl.edu 36 15 38980364 38980364 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 38980364 38980364 G A SNP VPS18 NM_020857 human genbank 54_36p 1 reviewed missense c.2056 p.A686T 1 superfamily_ARM repeat "HMMPfam_Pep3_Vps18,superfamily_ARM repeat" - no_errors NDUFAF1 51103 genome.wustl.edu 36 15 39474438 39474438 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 39474438 39474438 T G SNP NDUFAF1 NM_016013 human genbank 54_36p -1 validated missense c.670 p.K224Q 0.01 HMMPfam_CIA30 HMMPfam_CIA30 - no_errors RTF1 23168 genome.wustl.edu 36 15 39559776 39559776 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 39559776 39559776 G C SNP RTF1 NM_015138 human genbank 54_36p 1 validated missense c.1612 p.D538H 1 NULL "HMMSmart_Plus3,HMMPfam_Plus-3" - no_errors TYRO3 7301 genome.wustl.edu 36 15 39657412 39657412 + Silent SNP C C G novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 39657412 39657412 C G SNP TYRO3 NM_006293 human genbank 54_36p 1 provisional silent c.2319 p.P773 1 "superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc" "superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR" - no_errors MGA 23269 genome.wustl.edu 36 15 39776435 39776435 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 39776435 39776435 C A SNP MGA NM_001080541 human genbank 54_36p 1 provisional missense c.1935 p.S645R 0.05 NULL "superfamily_p53-like transcription factors,HMMSmart_SM00425,HMMPfam_T-box,PatternScan_TBOX_2,HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00353" - no_errors MGA 23269 genome.wustl.edu 36 15 39828708 39828709 + Frame_Shift_Ins INS - - A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 - - - A - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 39828708 39828709 - A INS MGA NM_001080541 human genbank 54_36p 1 provisional frame_shift_ins c.5758_5759 p.V1920fs 1.000:1.000 NULL "HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,superfamily_HLH helix-loop-helix DNA-binding domain,PatternScan_TBOX_2" - no_errors EHD4 30844 genome.wustl.edu 36 15 40033268 40033268 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40033268 40033268 G A SNP EHD4 NM_139265 human genbank 54_36p -1 provisional silent c.399 p.N133 1 "superfamily_SSF52540,HMMPfam_Dynamin_N" "superfamily_SSF52540,HMMPfam_Dynamin_N,superfamily_SSF47473,HMMSmart_EH,PatternScan_EF_HAND_1" - no_errors PLA2G4F 255189 genome.wustl.edu 36 15 40223586 40223586 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40223586 40223586 C G SNP PLA2G4F NM_213600 human genbank 54_36p -1 provisional missense c.2024 p.C675S 0.83 "HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like" "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like,HMMPfam_PLA2_B" - no_errors TMEM87A 25963 genome.wustl.edu 36 15 40316920 40316920 + Splice_Site SNP A A T novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40316920 40316920 A T SNP TMEM87A NM_015497 human genbank 54_36p -1 validated splice_site c.868+2 e9+2 1 - - - no_errors ZFP106 64397 genome.wustl.edu 36 15 40529814 40529814 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40529814 40529814 C T SNP ZFP106 NM_022473 human genbank 54_36p -1 provisional missense c.1879 p.E627K 0 NULL "PatternScan_WD_REPEATS_1,HMMSmart_ZnF_C2H2,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMSmart_PQQ,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors CDAN1 146059 genome.wustl.edu 36 15 40804705 40804705 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 40804705 40804705 C G SNP CDAN1 NM_138477 human genbank 54_36p -1 validated missense c.3487 p.E1163Q 0.96 NULL NULL - no_errors TUBGCP4 27229 genome.wustl.edu 36 15 41455704 41455704 + Silent SNP T T C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41455704 41455704 T C SNP TUBGCP4 NM_014444 human genbank 54_36p 1 provisional silent c.195 p.H65 1 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors TUBGCP4 27229 genome.wustl.edu 36 15 41459634 41459634 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41459634 41459634 G A SNP TUBGCP4 NM_014444 human genbank 54_36p 1 provisional missense c.502 p.V168I 1 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors TUBGCP4 27229 genome.wustl.edu 36 15 41476736 41476736 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41476736 41476736 A C SNP TUBGCP4 NM_014444 human genbank 54_36p 1 provisional missense c.1204 p.K402Q 1 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors MAP1A 4130 genome.wustl.edu 36 15 41607649 41607649 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 41607649 41607649 C T SNP MAP1A NM_002373 human genbank 54_36p 1 reviewed missense c.6686 p.S2229L 0.99 NULL superfamily_Metallo-hydrolase/oxidoreductase - no_errors PDIA3 2923 genome.wustl.edu 36 15 41845419 41845419 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41845419 41845419 G T SNP PDIA3 NM_005313 human genbank 54_36p 1 reviewed missense c.762 p.L254F 1 NULL "superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,PatternScan_THIOREDOXIN_1" - no_errors ELL3 80237 genome.wustl.edu 36 15 41853752 41853752 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 41853752 41853752 G A SNP ELL3 NM_025165 human genbank 54_36p -1 validated missense c.958 p.R320C 0.86 HMMPfam_Occludin_ELL "HMMPfam_ELL,HMMPfam_Occludin_ELL" - no_errors SPG11 80208 genome.wustl.edu 36 15 42740027 42740027 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 42740027 42740027 G A SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed silent c.337 p.L113 0.99 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors B2M 567 genome.wustl.edu 36 15 42791037 42791037 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 42791037 42791037 A G SNP B2M NM_004048 human genbank 54_36p 1 validated missense c.1 p.M1V 0.06 NULL "superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC" - no_errors DUOXA1 90527 genome.wustl.edu 36 15 43197528 43197528 + Silent SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43197528 43197528 C T SNP DUOXA1 NM_144565 human genbank 54_36p -1 provisional silent c.1023 p.A341 0 NULL HMMPfam_DuoxA - no_errors SHF 90525 genome.wustl.edu 36 15 43251793 43251793 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43251793 43251793 G T SNP SHF NM_138356 human genbank 54_36p -1 validated missense c.809 p.P270Q 0.99 NULL "superfamily_Nucleotidylyl transferase,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors SLC28A2 9153 genome.wustl.edu 36 15 43341525 43341525 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43341525 43341525 G A SNP SLC28A2 NM_004212 human genbank 54_36p 1 provisional missense c.191 p.S64N 0.02 NULL "HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C" - no_errors SLC28A2 9153 genome.wustl.edu 36 15 43342663 43342663 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43342663 43342663 G C SNP SLC28A2 NM_004212 human genbank 54_36p 1 provisional missense c.375 p.K125N 0.01 NULL "HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C" - no_errors SLC28A2 9153 genome.wustl.edu 36 15 43347163 43347163 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 43347163 43347163 C T SNP SLC28A2 NM_004212 human genbank 54_36p 1 provisional missense c.1076 p.A359V 1 NULL "HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C" - no_errors SPATA5L1 79029 genome.wustl.edu 36 15 43500622 43500622 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43500622 43500622 G A SNP SPATA5L1 NM_024063 human genbank 54_36p 1 provisional silent c.2184 p.P728 0.99 superfamily_P-loop containing nucleoside triphosphate hydrolases "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA" - no_errors C15orf48 84419 genome.wustl.edu 36 15 43510545 43510545 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 43510545 43510545 G C SNP C15orf48 NM_032413 human genbank 54_36p 1 validated missense c.91 p.A31P 0 HMMPfam_NADH_ub_rd_NUML HMMPfam_NADH_ub_rd_NUML - no_errors LOC644029 644029 genome.wustl.edu 36 15 45809615 45809615 + RNA SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 45809615 45809615 C T SNP LOC644029 XR_017397 human genbank 54_36p -1 model rna NULL NULL 0.83 - - - pseudogene MYEF2 50804 genome.wustl.edu 36 15 46245454 46245454 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 46245454 46245454 C G SNP MYEF2 NM_016132 human genbank 54_36p -1 validated missense c.493 p.D165H 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors SLC12A1 6557 genome.wustl.edu 36 15 46308807 46308807 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 46308807 46308807 A T SNP SLC12A1 NM_000338 human genbank 54_36p 1 validated missense c.854 p.D285V 1 HMMPfam_AA_permease "HMMPfam_AA_permease_N,HMMPfam_AA_permease" - no_errors FBN1 2200 genome.wustl.edu 36 15 46500294 46500294 + Silent SNP G A A novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 46500294 46500294 G A SNP FBN1 NM_000138 human genbank 54_36p -1 reviewed silent c.7701 p.D2567 1 "superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179" ############################################################################################################################################################################################################################################################### - no_errors SHC4 399694 genome.wustl.edu 36 15 46914506 46914506 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 46914506 46914506 G T SNP SHC4 NM_203349 human genbank 54_36p -1 validated missense c.1489 p.P497T 1 superfamily_SH2 domain "superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2" - no_errors C15orf33 196951 genome.wustl.edu 36 15 47621290 47621290 + Silent SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 47621290 47621290 A G SNP C15orf33 NM_152647 human genbank 54_36p -1 validated silent c.753 p.Y251 0.99 NULL NULL - no_errors ATP8B4 79895 genome.wustl.edu 36 15 48052207 48052207 + Silent SNP T T A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 48052207 48052207 T A SNP ATP8B4 NM_024837 human genbank 54_36p -1 validated silent c.1107 p.A369 0.14 superfamily_SSF81665 "superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3" - no_errors GABPB1 2553 genome.wustl.edu 36 15 48383548 48383549 + Missense_Mutation DNP AC TA TA novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 AC AC TA TA AC AC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 48383548 48383549 AC TA DNP GABPB1 NM_005254 human genbank 54_36p -1 reviewed missense c.183_182 p.G61V 0.997:1.000 "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" "superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank" - no_errors GLDN 342035 genome.wustl.edu 36 15 49474451 49474451 + Silent SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 49474451 49474451 C T SNP GLDN NM_181789 human genbank 54_36p 1 validated silent c.669 p.S223 1 NULL "HMMPfam_Collagen,HMMPfam_OLF,HMMSmart_SM00284" - no_errors DMXL2 23312 genome.wustl.edu 36 15 49582396 49582396 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 49582396 49582396 A G SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.2891 p.L964P 1 NULL "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40" - no_errors DMXL2 23312 genome.wustl.edu 36 15 49615243 49615243 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 49615243 49615243 A G SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.2345 p.F782S 1 HMMSmart_SM00320 "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors DMXL2 23312 genome.wustl.edu 36 15 49617139 49617139 + Silent SNP T T G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 49617139 49617139 T G SNP DMXL2 NM_015263 human genbank 54_36p -1 validated silent c.1455 p.P485 0.95 superfamily_WD40 repeat-like "HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40" - no_errors SCG3 29106 genome.wustl.edu 36 15 49761280 49761280 + Silent SNP G G C novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 49761280 49761280 G C SNP SCG3 NM_013243 human genbank 54_36p 1 reviewed silent c.36 p.V12 1 NULL NULL - no_errors MYO5C 55930 genome.wustl.edu 36 15 50359091 50359091 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 50359091 50359091 C T SNP MYO5C NM_018728 human genbank 54_36p -1 validated missense c.211 p.D71N 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head" "superfamily_Myosin S1 fragment N-terminal domain,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL" - no_errors MYO5C 55930 genome.wustl.edu 36 15 50359100 50359100 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 50359100 50359100 C T SNP MYO5C NM_018728 human genbank 54_36p -1 validated missense c.202 p.G68S 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_Myosin S1 fragment N-terminal domain,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO5C 55930 genome.wustl.edu 36 15 50359104 50359104 + Silent SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 50359104 50359104 G A SNP MYO5C NM_018728 human genbank 54_36p -1 validated silent c.198 p.L66 0.99 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases" "HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_Myosin S1 fragment N-terminal domain,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors MYO5A 4644 genome.wustl.edu 36 15 50505448 50505448 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 50505448 50505448 G C SNP MYO5A NM_000259 human genbank 54_36p -1 reviewed missense c.326 p.A109G 1 "HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head" "superfamily_Myosin S1 fragment N-terminal domain,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL" - no_errors LOC645693 645693 genome.wustl.edu 36 15 51017784 51017784 + RNA SNP G G T novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 51017784 51017784 G T SNP LOC645693 XR_017498 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene UNC13C 440279 genome.wustl.edu 36 15 52093232 52093232 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 52093232 52093232 T A SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional missense c.840 p.S280R 0.98 NULL "superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD" - no_errors UNC13C 440279 genome.wustl.edu 36 15 52094558 52094558 + Silent SNP A A C novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 52094558 52094558 A C SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional silent c.2166 p.P722 1 NULL "HMMPfam_C2,HMMSmart_C2,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_C2_CaLB,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_SSF57889" - no_errors UNC13C 440279 genome.wustl.edu 36 15 52343746 52343746 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1348-01A-01W-0494-09 TCGA-04-1348-11A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 52343746 52343746 G C SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional missense c.3537 p.E1179D 1 NULL "HMMPfam_C2,HMMSmart_C2,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_C2_CaLB,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_SSF57889" - no_errors UNC13C 440279 genome.wustl.edu 36 15 52647435 52647435 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 52647435 52647435 A C SNP UNC13C NM_001080534 human genbank 54_36p 1 provisional missense c.6104 p.Q2035P 1 NULL "HMMPfam_C2,HMMSmart_C2,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_C2_CaLB,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD,superfamily_SSF57889" - no_errors RAB27A 5873 genome.wustl.edu 36 15 53308192 53308192 + Silent SNP A A G novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 53308192 53308192 A G SNP RAB27A NM_004580 human genbank 54_36p -1 reviewed silent c.250 p.L84 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00176" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00176" - no_errors CCPG1 9236 genome.wustl.edu 36 15 53439566 53439566 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 53439566 53439566 A G SNP CCPG1 NM_004748 human genbank 54_36p -1 validated missense c.1697 p.F566S 0 NULL NULL - no_errors PRTG 283659 genome.wustl.edu 36 15 53820119 53820119 + Silent SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 53820119 53820119 G A SNP PRTG NM_173814 human genbank 54_36p -1 validated silent c.150 p.V50 1 "HMMPfam_I-set,superfamily_SSF48726" "HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3" - no_errors MNS1 55329 genome.wustl.edu 36 15 54508658 54508658 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 54508658 54508658 A G SNP MNS1 NM_018365 human genbank 54_36p -1 reviewed missense c.1421 p.I474T 0.98 NULL NULL - no_errors ZNF280D 54816 genome.wustl.edu 36 15 54758184 54758184 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 54758184 54758184 C T SNP ZNF280D NM_017661 human genbank 54_36p -1 validated missense c.1132 p.E378K 1 "HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors TCF12 6938 genome.wustl.edu 36 15 55143311 55143311 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 55143311 55143311 A G SNP TCF12 NM_207036 human genbank 54_36p 1 reviewed missense c.220 p.R74G 1 NULL "superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH" - no_errors TCF12 6938 genome.wustl.edu 36 15 55362041 55362041 + Silent SNP G G C novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 55362041 55362041 G C SNP TCF12 NM_207036 human genbank 54_36p 1 reviewed silent c.2085 p.G695 1 NULL "HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic" - no_errors CGNL1 84952 genome.wustl.edu 36 15 55518952 55518952 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 55518952 55518952 G A SNP CGNL1 NM_032866 human genbank 54_36p 1 validated missense c.1463 p.G488D 0.09 NULL HMMPfam_Myosin_tail_1 - no_errors LIPC 3990 genome.wustl.edu 36 15 56617868 56617868 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 56617868 56617868 C T SNP LIPC NM_000236 human genbank 54_36p 1 reviewed silent c.133 p.L45 0 "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase" "superfamily_alpha/beta-Hydrolases,HMMPfam_Lipase,PatternScan_LIPASE_SER,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308" - no_errors RNF111 54778 genome.wustl.edu 36 15 57172032 57172032 + Missense_Mutation SNP A A T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 57172032 57172032 A T SNP RNF111 NM_017610 human genbank 54_36p 1 reviewed missense c.2744 p.K915I 1 NULL "superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4" - no_errors FAM81A 145773 genome.wustl.edu 36 15 57539488 57539488 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 57539488 57539488 C G SNP FAM81A NM_152450 human genbank 54_36p 1 validated missense c.85 p.L29V 0.98 NULL NULL - no_errors BNIP2 663 genome.wustl.edu 36 15 57752127 57752127 + Splice_Site SNP C C A novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 57752127 57752127 C A SNP BNIP2 NM_004330 human genbank 54_36p -1 reviewed splice_site c.575+1 e5+1 1 - - - no_errors ANXA2 302 genome.wustl.edu 36 15 58436718 58436718 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 58436718 58436718 T G SNP ANXA2 NM_001002858 human genbank 54_36p -1 reviewed missense c.421 p.T141P 1 "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" "superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335" - no_errors VPS13C 54832 genome.wustl.edu 36 15 60048898 60048898 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 60048898 60048898 G C SNP VPS13C NM_020821 human genbank 54_36p -1 validated missense c.2803 p.L935V 1 NULL HMMPfam_DUF1162 - no_errors FLJ38723 255180 genome.wustl.edu 36 15 60331396 60331396 + RNA SNP A A C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 60331396 60331396 A C SNP FLJ38723 XR_041381 human genbank 54_36p -1 model rna NULL NULL 1 - - - no_errors TLN2 83660 genome.wustl.edu 36 15 60918107 60918107 + Splice_Site SNP G G A novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 60918107 60918107 G A SNP TLN2 NM_015059 human genbank 54_36p 1 reviewed splice_site c.7375-1 e55-1 1 - - - no_errors HERC1 8925 genome.wustl.edu 36 15 61727326 61727326 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 61727326 61727326 G A SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed missense c.10873 p.H3625Y 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_ARGINASE_2" ############################################################################################################################################################################################################################################################### - no_errors HERC1 8925 genome.wustl.edu 36 15 61739125 61739125 + Nonsense_Mutation SNP A A C novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 61739125 61739125 A C SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed nonsense c.9287 p.L3096* 1 NULL ############################################################################################################################################################################################################################################################### - no_errors HERC1 8925 genome.wustl.edu 36 15 61751786 61751786 + Silent SNP T T G novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 61751786 61751786 T G SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed silent c.8007 p.A2669 0.94 NULL ############################################################################################################################################################################################################################################################### - no_errors TRIP4 56238 genome.wustl.edu 36 15 62477071 62477071 + Splice_Site SNP G G T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 62477071 62477071 G T SNP TRIP4 NM_016213 human genbank 54_36p 1 validated splice_site c.618+1 e4+1 1 - - - no_errors ZNF609 23060 genome.wustl.edu 36 15 62579042 62579042 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 62579042 62579042 G A SNP ZNF609 NM_015042 human genbank 54_36p 1 provisional missense c.371 p.R124H 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors PLEKHO2 80301 genome.wustl.edu 36 15 62944873 62944873 + Silent SNP C A A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 62944873 62944873 C A SNP PLEKHO2 NM_025201 human genbank 54_36p 1 validated silent c.1206 p.P402 0 NULL "superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233" - no_errors CILP 8483 genome.wustl.edu 36 15 63277186 63277186 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 63277186 63277186 C G SNP CILP NM_003613 human genbank 54_36p -1 reviewed missense c.2491 p.E831Q 1 NULL "PatternScan_HEXAPEP_TRANSFERASES,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Carboxypeptidase regulatory domain,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig" - no_errors CILP 8483 genome.wustl.edu 36 15 63277777 63277777 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1412-01A-01W-0494-09 TCGA-13-1412-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 63277777 63277777 T A SNP CILP NM_003613 human genbank 54_36p -1 reviewed missense c.1900 p.T634S 1 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Carboxypeptidase regulatory domain,HMMPfam_ig,PatternScan_HEXAPEP_TRANSFERASES,superfamily_Immunoglobulin" - no_errors CILP 8483 genome.wustl.edu 36 15 63286375 63286375 + Silent SNP C C A novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 63286375 63286375 C A SNP CILP NM_003613 human genbank 54_36p -1 reviewed silent c.222 p.L74 1 NULL "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Carboxypeptidase regulatory domain,HMMPfam_ig,PatternScan_HEXAPEP_TRANSFERASES,superfamily_Immunoglobulin" - no_errors IGDCC3 9543 genome.wustl.edu 36 15 63409183 63409183 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 63409183 63409183 C A SNP IGDCC3 NM_004884 human genbank 54_36p -1 validated missense c.1931 p.G644V 1 NULL "superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3" - no_errors C15orf44 81556 genome.wustl.edu 36 15 63686706 63686706 + Silent SNP G G A novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 63686706 63686706 G A SNP C15orf44 NM_030800 human genbank 54_36p -1 predicted silent c.66 p.S22 0.75 superfamily_vWA-like superfamily_vWA-like - no_errors DIS3L 115752 genome.wustl.edu 36 15 64405758 64405758 + Splice_Site SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 64405758 64405758 T G SNP DIS3L NM_133375 human genbank 54_36p 1 validated splice_site c.1952+2 e11+2 1 - - - no_errors PIAS1 8554 genome.wustl.edu 36 15 66221345 66221345 + Silent SNP C C T novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 66221345 66221345 C T SNP PIAS1 NM_016166 human genbank 54_36p 1 reviewed silent c.477 p.D159 1 NULL "HMMPfam_SAP,HMMSmart_SM00513,superfamily_RING/U-box,HMMPfam_zf-MIZ" - no_errors CORO2B 10391 genome.wustl.edu 36 15 66790129 66790129 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 66790129 66790129 G A SNP CORO2B NM_006091 human genbank 54_36p 1 validated missense c.338 p.R113Q 1 "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" "HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900" - no_errors GLCE 26035 genome.wustl.edu 36 15 67347845 67347845 + Silent SNP G G T novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 67347845 67347845 G T SNP GLCE NM_015554 human genbank 54_36p 1 validated silent c.1062 p.L354 1 NULL HMMPfam_C5-epim_C - no_errors GLCE 26035 genome.wustl.edu 36 15 67348201 67348201 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 67348201 67348201 C T SNP GLCE NM_015554 human genbank 54_36p 1 validated missense c.1418 p.A473V 1 HMMPfam_C5-epim_C HMMPfam_C5-epim_C - no_errors UACA 55075 genome.wustl.edu 36 15 68746196 68746196 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 68746196 68746196 T C SNP UACA NM_018003 human genbank 54_36p -1 validated missense c.3881 p.D1294G 1 NULL "superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_Pox_A_type_inc" - no_errors KRT8P9 390601 genome.wustl.edu 36 15 68939469 68939469 + RNA SNP C C T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 68939469 68939469 C T SNP KRT8P9 XR_017231 human genbank 54_36p 1 model rna NULL NULL 0.02 - - - pseudogene LRRC49 54839 genome.wustl.edu 36 15 69016209 69016209 + Missense_Mutation SNP T T G novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 69016209 69016209 T G SNP LRRC49 NM_017691 human genbank 54_36p 1 validated missense c.767 p.I256R 1 "superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369" "superfamily_L domain-like,HMMSmart_SM00365,HMMPfam_LRR_1,HMMSmart_SM00369" - no_errors THSD4 79875 genome.wustl.edu 36 15 69837379 69837379 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 69837379 69837379 T G SNP THSD4 NM_024817 human genbank 54_36p 1 provisional missense c.2500 p.C834G 1 "HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_TSP_1" "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_ADAM_spacer1,HMMPfam_TSP_1,HMMPfam_PLAC" - no_errors SENP8 123228 genome.wustl.edu 36 15 70219543 70219543 + Nonsense_Mutation SNP T T A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 70219543 70219543 T A SNP SENP8 NM_145204 human genbank 54_36p 1 provisional nonsense c.525 p.C175* 1 "superfamily_SSF54001,HMMPfam_Peptidase_C48" "superfamily_SSF54001,HMMPfam_Peptidase_C48" - no_errors HEXA 3073 genome.wustl.edu 36 15 70425947 70425947 + Silent SNP G A A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 70425947 70425947 G A SNP HEXA NM_000520 human genbank 54_36p -1 reviewed silent c.1305 p.Y435 0.95 "HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" "superfamily_beta-N-acetylhexosaminidase-like domain,HMMPfam_Glyco_hydro_20b,HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases" - no_errors HCN4 10021 genome.wustl.edu 36 15 71404829 71404829 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 71404829 71404829 C T SNP HCN4 NM_005477 human genbank 54_36p -1 reviewed missense c.1600 p.V534M 1 superfamily_cNMP_binding "PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1" - no_errors HCN4 10021 genome.wustl.edu 36 15 71423026 71423026 + Missense_Mutation SNP T T A novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 71423026 71423026 T A SNP HCN4 NM_005477 human genbank 54_36p -1 reviewed missense c.962 p.E321V 1 "HMMPfam_Ion_trans,superfamily_SSF81324" "HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Ion_trans_N,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324" - no_errors ISLR 3671 genome.wustl.edu 36 15 72254722 72254722 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72254722 72254722 G A SNP ISLR NM_005545 human genbank 54_36p 1 validated missense c.470 p.R157H 0.99 "superfamily_SSF52058,HMMSmart_LRR_TYP" "HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2" - no_errors CCDC33 80125 genome.wustl.edu 36 15 72347841 72347841 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72347841 72347841 A T SNP CCDC33 NM_025055 human genbank 54_36p 1 validated missense c.535 p.M179L 0.81 NULL "superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2" - no_errors CCDC33 80125 genome.wustl.edu 36 15 72410091 72410091 + Silent SNP G G A novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72410091 72410091 G A SNP CCDC33 NM_025055 human genbank 54_36p 1 validated silent c.1491 p.L497 0.57 NULL "HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)" - no_errors CCDC33 80125 genome.wustl.edu 36 15 72414492 72414492 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72414492 72414492 C A SNP CCDC33 NM_182791 human genbank 54_36p 1 validated missense c.1030 p.P344T 0.03 NULL NULL - no_errors CYP11A1 1583 genome.wustl.edu 36 15 72418703 72418703 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72418703 72418703 G T SNP CYP11A1 NM_000781 human genbank 54_36p -1 reviewed missense c.1164 p.H388Q 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP11A1 1583 genome.wustl.edu 36 15 72423214 72423214 + Silent SNP A A G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72423214 72423214 A G SNP CYP11A1 NM_000781 human genbank 54_36p -1 reviewed silent c.798 p.H266 1 "HMMPfam_p450,superfamily_Cytochrome P450" "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP1A1 1543 genome.wustl.edu 36 15 72799903 72799903 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72799903 72799903 G T SNP CYP1A1 NM_000499 human genbank 54_36p -1 reviewed missense c.1519 p.Q507K 0.94 superfamily_Cytochrome P450 "HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450" - no_errors CYP1A2 1544 genome.wustl.edu 36 15 72834381 72834381 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72834381 72834381 C A SNP CYP1A2 NM_000761 human genbank 54_36p 1 reviewed missense c.1450 p.P484T 0.03 "HMMPfam_p450,superfamily_Cytochrome_P450" "HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450" - no_errors SCAMP2 10066 genome.wustl.edu 36 15 72928000 72928000 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72928000 72928000 C G SNP SCAMP2 NM_005697 human genbank 54_36p -1 reviewed missense c.728 p.G243A 1 HMMPfam_SCAMP HMMPfam_SCAMP - no_errors MPI 4351 genome.wustl.edu 36 15 72975669 72975669 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 72975669 72975669 G T SNP MPI NM_002435 human genbank 54_36p 1 reviewed missense c.794 p.G265V 1 "superfamily_RmlC-like cupins,HMMPfam_PMI_typeI" "superfamily_RmlC-like cupins,HMMPfam_PMI_typeI,PatternScan_PMI_I_1,PatternScan_PMI_I_2" - no_errors SCAMP5 192683 genome.wustl.edu 36 15 73096050 73096050 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0982-01A-01W-0488-09 TCGA-24-0982-10C-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 73096050 73096050 G A SNP SCAMP5 NM_138967 human genbank 54_36p 1 validated missense c.200 p.G67E 1 HMMPfam_SCAMP HMMPfam_SCAMP - no_errors LOC653641 653641 genome.wustl.edu 36 15 73343458 73343458 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 73343458 73343458 A G SNP LOC653641 XM_496076 human genbank 54_36p 1 model missense c.545 p.Q182R 1 NULL NULL - no_errors SNX33 257364 genome.wustl.edu 36 15 73729785 73729785 + Silent SNP G G A novel Unknown TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 73729785 73729785 G A SNP SNX33 NM_153271 human genbank 54_36p 1 provisional silent c.1287 p.Q429 1 HMMPfam_BAR_3_WASP_bdg "superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMPfam_BAR_3_WASP_bdg" - no_errors CSPG4 1464 genome.wustl.edu 36 15 73756197 73756197 + Silent SNP G G A novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 73756197 73756197 G A SNP CSPG4 NM_001897 human genbank 54_36p -1 reviewed silent c.5718 p.F1906 0.95 NULL "superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ATPASE_ALPHA_BETA" - no_errors ENSG00000222964 0 genome.wustl.edu 36 15 73864775 73864775 + RNA SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 15 73864775 73864775 C T SNP ENSG00000222964 ENST00000411032 human ensembl 54_36p 1 novel rna NULL NULL 0.2 - - - no_errors SGK269 79834 genome.wustl.edu 36 15 75212886 75212886 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0933-01A-01W-0421-09 TCGA-10-0933-11A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 75212886 75212886 C T SNP SGK269 NM_024776 human genbank 54_36p -1 validated missense c.3593 p.S1198N 1 NULL "PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_TYR" - no_errors WDR61 80349 genome.wustl.edu 36 15 76369034 76369034 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 76369034 76369034 G A SNP WDR61 NM_025234 human genbank 54_36p -1 provisional missense c.544 p.L182F 1 "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40" "superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors RASGRF1 5923 genome.wustl.edu 36 15 77126261 77126261 + Missense_Mutation SNP C C G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 77126261 77126261 C G SNP RASGRF1 NM_002891 human genbank 54_36p -1 reviewed missense c.760 p.E254Q 1 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325" ############################################################################################################################################################################################################################################################### - no_errors IL16 3603 genome.wustl.edu 36 15 79339214 79339214 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 79339214 79339214 C A SNP IL16 NM_172217 human genbank 54_36p 1 reviewed missense c.359 p.A120E 0.03 NULL "superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228" - no_errors IL16 3603 genome.wustl.edu 36 15 79372265 79372265 + Silent SNP G A A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 79372265 79372265 G A SNP IL16 NM_172217 human genbank 54_36p 1 reviewed silent c.1734 p.P578 0 NULL "HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like" - no_errors STARD5 80765 genome.wustl.edu 36 15 79392760 79392760 + Silent SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 79392760 79392760 G T SNP STARD5 NM_181900 human genbank 54_36p -1 validated silent c.534 p.T178 0.93 "superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" "superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234" - no_errors EFTUD1 79631 genome.wustl.edu 36 15 80338515 80338515 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0980-01A-01W-0421-09 TCGA-24-0980-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 80338515 80338515 T C SNP EFTUD1 NM_024580 human genbank 54_36p -1 validated missense c.128 p.N43S 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,superfamily_Translation proteins,superfamily_EF-G C-terminal domain-like,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_EFG_IV,HMMPfam_EFG_C" - no_errors CPEB1 64506 genome.wustl.edu 36 15 81037199 81037199 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81037199 81037199 G T SNP CPEB1 NM_030594 human genbank 54_36p -1 reviewed missense c.329 p.P110H 1 NULL superfamily_SSF54928 - no_errors AP3B2 8120 genome.wustl.edu 36 15 81128568 81128568 + Nonsense_Mutation SNP G G T novel Unknown TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81128568 81128568 G T SNP AP3B2 NM_004644 human genbank 54_36p -1 validated nonsense c.2708 p.S903* 1 NULL "superfamily_ARM repeat,HMMPfam_Adaptin_N" - pseudogene:no_stop_codon:bad_bp_length_for_coding_region AP3B2 8120 genome.wustl.edu 36 15 81128641 81128641 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81128641 81128641 C T SNP AP3B2 ENST00000261722 human ensembl 54_36p -1 known missense c.2633 p.R878H 1 superfamily_Clathrin adaptor appendage domain "HMMPfam_Adaptin_N,superfamily_Clathrin adaptor appendage domain,superfamily_ARM repeat" - no_errors WHAMM 123720 genome.wustl.edu 36 15 81296867 81296867 + Nonsense_Mutation SNP G G T novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81296867 81296867 G T SNP WHAMM NM_001080435 human genbank 54_36p 1 provisional nonsense c.2104 p.E702* 0 NULL HMMPfam_WH2 - no_errors WHAMM 123720 genome.wustl.edu 36 15 81299246 81299246 + Silent SNP G G A novel Unknown TCGA-10-0935-01A-03W-0421-09 TCGA-10-0935-11A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81299246 81299246 G A SNP WHAMM NM_001080435 human genbank 54_36p 1 provisional silent c.2334 p.E778 1 NULL HMMPfam_WH2 - no_errors BTBD1 53339 genome.wustl.edu 36 15 81516183 81516183 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81516183 81516183 G C SNP BTBD1 NM_025238 human genbank 54_36p -1 reviewed missense c.520 p.H174D 1 "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,HMMPfam_PHR" - no_errors BNC1 646 genome.wustl.edu 36 15 81726708 81726708 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 81726708 81726708 G A SNP BNC1 NM_001717 human genbank 54_36p -1 reviewed missense c.319 p.R107C 1 NULL "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ADAMTSL3 57188 genome.wustl.edu 36 15 82279788 82279788 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 82279788 82279788 C G SNP ADAMTSL3 NM_207517 human genbank 54_36p 1 validated missense c.585 p.I195M 1 NULL "superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_PLAC" - no_errors ADAMTSL3 57188 genome.wustl.edu 36 15 82442256 82442256 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 82442256 82442256 C T SNP ADAMTSL3 NM_207517 human genbank 54_36p 1 validated missense c.2872 p.R958W 0.05 "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin" - no_errors LOC642677 642677 genome.wustl.edu 36 15 82513135 82513135 + RNA SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 82513135 82513135 C T SNP LOC642677 XR_036878 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ZSCAN2 54993 genome.wustl.edu 36 15 82964862 82964862 + Silent SNP G G C novel Unknown TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 82964862 82964862 G C SNP ZSCAN2 NM_181877 human genbank 54_36p 1 reviewed silent c.432 p.G144 0.1 HMMSmart_SM00431 "HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_errors SEC11A 23478 genome.wustl.edu 36 15 83014261 83014261 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83014261 83014261 C T SNP SEC11A NM_014300 human genbank 54_36p -1 provisional missense c.533 p.R178H 1 NULL "superfamily_LexA/Signal peptidase,HMMPfam_Peptidase_S24,PatternScan_SPASE_I_1,PatternScan_SPASE_I_3" - no_errors ZNF592 9640 genome.wustl.edu 36 15 83128692 83128692 + Silent SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83128692 83128692 C T SNP ZNF592 NM_014630 human genbank 54_36p 1 validated silent c.1782 p.D594 1 HMMSmart_ZnF_C2H2 "HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2" - no_errors ZNF592 9640 genome.wustl.edu 36 15 83143401 83143401 + Silent SNP C C T novel Unknown TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83143401 83143401 C T SNP ZNF592 NM_014630 human genbank 54_36p 1 validated silent c.3093 p.H1031 1 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ZNF592 9640 genome.wustl.edu 36 15 83144123 83144123 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83144123 83144123 G C SNP ZNF592 NM_014630 human genbank 54_36p 1 validated missense c.3184 p.E1062Q 1 HMMSmart_ZnF_C2H2 "HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2" - no_errors ALPK3 57538 genome.wustl.edu 36 15 83201506 83201506 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1506-01A-01W-0549-09 TCGA-13-1506-10A-01W-0550-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83201506 83201506 G C SNP ALPK3 NM_020778 human genbank 54_36p 1 validated missense c.3139 p.G1047R 0 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors ALPK3 57538 genome.wustl.edu 36 15 83201845 83201845 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83201845 83201845 G C SNP ALPK3 NM_020778 human genbank 54_36p 1 validated missense c.3478 p.D1160H 0.09 NULL "HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin" - no_errors PDE8A 5151 genome.wustl.edu 36 15 83411368 83411368 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 83411368 83411368 G A SNP PDE8A NM_002605 human genbank 54_36p 1 validated silent c.363 p.L121 1 HMMPfam_Response_reg "HMMPfam_PDE8,HMMPfam_Response_reg,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I" - no_errors PDE8A 5151 genome.wustl.edu 36 15 83470593 83470593 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 83470593 83470593 A C SNP PDE8A NM_002605 human genbank 54_36p 1 validated missense c.2237 p.E746A 1 "HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like" "HMMPfam_Response_reg,HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMSmart_SM00471,HMMPfam_PAS,HMMPfam_PDE8,superfamily_HD-domain/PDEase-like,superfamily_PYP-like sensor domain (PAS domain)" - no_errors AKAP13 11214 genome.wustl.edu 36 15 84029056 84029056 + Missense_Mutation SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 84029056 84029056 G T SNP AKAP13 NM_006738 human genbank 54_36p 1 reviewed missense c.5249 p.S1750I 1 NULL "superfamily_ANK,HMMPfam_RII_binding_1,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_EF_HAND_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH" - no_errors KLHL25 64410 genome.wustl.edu 36 15 84112344 84112344 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 84112344 84112344 T C SNP KLHL25 NM_022480 human genbank 54_36p -1 validated missense c.1702 p.I568V 0.99 "HMMPfam_Kelch_1,HMMSmart_Kelch" "superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1" - no_errors NTRK3 4916 genome.wustl.edu 36 15 86221209 86221209 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 86221209 86221209 C A SNP NTRK3 NM_001012338 human genbank 54_36p -1 reviewed missense c.2481 p.L827F 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220" ############################################################################################################################################################################################################################################################### - no_errors NTRK3 4916 genome.wustl.edu 36 15 86323601 86323601 + Silent SNP G G A novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 86323601 86323601 G A SNP NTRK3 NM_001007156 human genbank 54_36p -1 reviewed silent c.1818 p.S606 1 NULL "HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_I-set" - no_errors ACAN 176 genome.wustl.edu 36 15 87183079 87183079 + Silent SNP A A G novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 87183079 87183079 A G SNP ACAN NM_013227 human genbank 54_36p 1 reviewed silent c.252 p.V84 1 "HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406" ############################################################################################################################################################################################################################################################### - no_errors MFGE8 4240 genome.wustl.edu 36 15 87251603 87251603 + Missense_Mutation SNP C C G novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 87251603 87251603 C G SNP MFGE8 NM_005928 human genbank 54_36p -1 validated missense c.214 p.E72Q 0 "HMMSmart_SM00231,superfamily_Galactose-binding domain-like" "superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2" - no_errors ABHD2 11057 genome.wustl.edu 36 15 87520209 87520209 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 87520209 87520209 G C SNP ABHD2 NM_007011 human genbank 54_36p 1 reviewed missense c.701 p.C234S 1 "superfamily_SSF53474,HMMPfam_Abhydrolase_1" "superfamily_SSF53474,HMMPfam_Abhydrolase_1,PatternScan_UPF0017" - no_errors WDR93 56964 genome.wustl.edu 36 15 88071457 88071457 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 88071457 88071457 G A SNP WDR93 NM_020212 human genbank 54_36p 1 provisional missense c.946 p.G316R 0.98 NULL "superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase,PatternScan_WD_REPEATS_1" - no_errors ANPEP 290 genome.wustl.edu 36 15 88150390 88150390 + Silent SNP T T C novel Unknown TCGA-23-1117-01A-02W-0488-09 TCGA-23-1117-10A-01W-0488-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 88150390 88150390 T C SNP ANPEP NM_001150 human genbank 54_36p -1 reviewed silent c.429 p.G143 0 "superfamily_SSF63737,HMMPfam_Peptidase_M1" "superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE" - no_errors IQGAP1 8826 genome.wustl.edu 36 15 88820975 88820975 + Missense_Mutation SNP A G G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 88820975 88820975 A G SNP IQGAP1 NM_003870 human genbank 54_36p 1 reviewed missense c.2861 p.Q954R 1 NULL ############################################################################################################################################################################################################################################################### - no_errors MAN2A2 4122 genome.wustl.edu 36 15 89251066 89251066 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 89251066 89251066 C G SNP MAN2A2 NM_006122 human genbank 54_36p 1 validated missense c.928 p.L310V 1 "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38" "superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C" - no_errors UNC45A 55898 genome.wustl.edu 36 15 89290898 89290898 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 89290898 89290898 C T SNP UNC45A NM_018671 human genbank 54_36p 1 validated missense c.1250 p.T417M 1 superfamily_ARM repeat "HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_2,superfamily_ARM repeat" - no_errors PRC1 9055 genome.wustl.edu 36 15 89318428 89318428 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 89318428 89318428 G C SNP PRC1 NM_003981 human genbank 54_36p -1 reviewed missense c.1403 p.P468R 0.15 HMMPfam_MAP65_ASE1 HMMPfam_MAP65_ASE1 - no_errors VPS33B 26276 genome.wustl.edu 36 15 89349139 89349139 + Silent SNP G G C novel Unknown TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 15 89349139 89349139 G C SNP VPS33B NM_018668 human genbank 54_36p -1 reviewed silent c.1197 p.L399 0.99 "superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1" "superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1" - no_errors SV2B 9899 genome.wustl.edu 36 15 89570923 89570923 + Silent SNP G G C novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 15 89570923 89570923 G C SNP SV2B NM_014848 human genbank 54_36p 1 validated silent c.426 p.L142 1 "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" "superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1" - no_errors SV2B 9899 genome.wustl.edu 36 15 89596149 89596149 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 89596149 89596149 C T SNP SV2B NM_014848 human genbank 54_36p 1 validated missense c.548 p.A183V 1 "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" "HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter" - no_errors SPATA8 145946 genome.wustl.edu 36 15 95129238 95129238 + Missense_Mutation SNP T T C novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 95129238 95129238 T C SNP SPATA8 NM_173499 human genbank 54_36p 1 provisional missense c.205 p.C69R 0 NULL NULL - no_errors SYNM 23336 genome.wustl.edu 36 15 97490006 97490006 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 97490006 97490006 A G SNP SYNM NM_145728 human genbank 54_36p 1 reviewed missense c.3917 p.H1306R 0 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region C15orf51 196968 genome.wustl.edu 36 15 98149807 98149807 + RNA SNP C C A novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 98149807 98149807 C A SNP C15orf51 NR_003260 human genbank 54_36p -1 provisional rna NULL NULL 0.31 - - - pseudogene ADAMTS17 170691 genome.wustl.edu 36 15 98512972 98512972 + Missense_Mutation SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 98512972 98512972 C T SNP ADAMTS17 NM_139057 human genbank 54_36p -1 reviewed missense c.1258 p.G420S 1 "superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (zincins) catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_PLAC" - no_errors LASS3 204219 genome.wustl.edu 36 15 98830675 98830675 + Missense_Mutation SNP C T T novel Unknown TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 98830675 98830675 C T SNP LASS3 NM_178842 human genbank 54_36p -1 validated missense c.715 p.D239N 1 "HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" "superfamily_Homeodomain-like,HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8" - no_errors LINS 55180 genome.wustl.edu 36 15 98938528 98938528 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1021-01B-01W-0488-09 TCGA-23-1021-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 98938528 98938528 C A SNP LINS1 NM_001040614 human genbank 54_36p -1 reviewed missense c.43 p.V15L 0.99 NULL NULL - no_errors LRRK1 79705 genome.wustl.edu 36 15 99383843 99383843 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 15 99383843 99383843 G A SNP LRRK1 NM_024652 human genbank 54_36p 1 validated missense c.2383 p.D795N 1 superfamily_P-loop containing nucleoside triphosphate hydrolases ############################################################################################################################################################################################################################################################### - no_errors uc002ddh.1 0 genome.wustl.edu 36 16 15115830 15115830 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15115830 15115830 C T SNP uc002ddh.1 ENST00000340301 human ensembl 54_36p -1 known missense c.1954 p.A652T 0 HMMPfam_NPIP "PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_GPS,HMMSmart_SM00303,HMMSmart_SM00308,HMMPfam_PLAT,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_NPIP" - no_start_codon ENSG00000208756 0 genome.wustl.edu 36 3 151278263 151278263 + RNA SNP C T T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 151278263 151278263 C T SNP ENSG00000208756 ENST00000386021 human ensembl 54_36p -1 known rna NULL NULL 0 - - - pseudogene LOC100130646 100130646 genome.wustl.edu 36 3 15150491 15150491 + RNA SNP A A G novel Unknown TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 3 15150491 15150491 A G SNP LOC100130646 XR_038601 human genbank 54_36p -1 model rna NULL NULL 0.01 - - - pseudogene LOC100130935 100130935 genome.wustl.edu 36 X 151647365 151647365 + Silent SNP G G T novel Unknown TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx X 151647365 151647365 G T SNP LOC100130935 XM_001721280 human genbank 54_36p -1 model silent c.114 p.A38 0 NULL NULL - no_errors ENSG00000184624 0 genome.wustl.edu 36 18 15261452 15261452 + Silent SNP G G A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 15261452 15261452 G A SNP ENSG00000184624 ENST00000330020 human ensembl 54_36p 1 known silent c.1239 p.K413 0.75 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355" "superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1" - no_start_codon:no_stop_codon ENSG00000184624 0 genome.wustl.edu 36 18 15261461 15261461 + Silent SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 18 15261461 15261461 T C SNP ENSG00000184624 ENST00000330020 human ensembl 54_36p 1 known silent c.1248 p.H416 1 "HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" "HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers" - no_start_codon:no_stop_codon LOC100132032 100132032 genome.wustl.edu 36 22 15370301 15370301 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 22 15370301 15370301 C T SNP LOC100132032 XM_001726273 human genbank 54_36p 1 model missense c.91 p.R31W 0.9 NULL NULL - no_errors LOC100130960 100130960 genome.wustl.edu 36 4 153937093 153937093 + RNA SNP C C T novel Unknown TCGA-24-1470-01A-01W-0553-09 TCGA-24-1470-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 4 153937093 153937093 C T SNP LOC100130960 XR_038000 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ENSG00000215003 0 genome.wustl.edu 36 16 15933071 15933071 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15933071 15933071 A G SNP ENSG00000215003 ENST00000399416 human ensembl 54_36p -1 known missense c.554 p.L185P 1 NULL "superfamily_L23_L15e_core,HMMPfam_Ribosomal_L15e" - no_errors LOC642451 642451 genome.wustl.edu 36 16 11028662 11028662 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 11028662 11028662 A C SNP LOC642451 XM_926336 human genbank 54_36p 1 model missense c.308 p.E103A 0.89 "HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e" "PatternScan_GAPDH,HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e,PatternScan_RIBOSOMAL_L30" - pseudogene GSPT1 2935 genome.wustl.edu 36 16 11897968 11897968 + Silent SNP C C A novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 11897968 11897968 C A SNP GSPT1 NM_002094 human genbank 54_36p -1 validated silent c.198 p.P66 0.55 NULL "superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C" - no_errors RUNDC2A 84127 genome.wustl.edu 36 16 12044377 12044377 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 12044377 12044377 A G SNP RUNDC2A NM_032167 human genbank 54_36p 1 validated missense c.370 p.N124D 1 "HMMPfam_RUN,HMMSmart_SM00593" "HMMPfam_RUN,HMMSmart_SM00593" - no_errors MKL2 57496 genome.wustl.edu 36 16 14142032 14142043 + In_Frame_Del DEL CTCAGAGTGAAG CTCAGAGTGAAG - novel Unknown TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 CTCAGAGTGAAG CTCAGAGTGAAG CTCAGAGTGAAG - CTCAGAGTGAAG CTCAGAGTGAAG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 14142032 14142043 CTCAGAGTGAAG - DEL MKL2 NM_014048 human genbank 54_36p 1 validated in_frame_del c.68_79 p.QSEA24in_frame_del 1.000:1.000:1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL "HMMSmart_RPEL,superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP" "(deletion:cds_exon[14141965,14142118])" no_errors MKL2 57496 genome.wustl.edu 36 16 14247013 14247013 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 14247013 14247013 T G SNP MKL2 NM_014048 human genbank 54_36p 1 validated missense c.1207 p.L403V 0.99 "HMMPfam_SAP,HMMSmart_SAP,superfamily_SSF68906" "HMMPfam_SAP,HMMSmart_SAP,HMMSmart_RPEL,superfamily_SSF68906" - no_errors PARN 5073 genome.wustl.edu 36 16 14557046 14557046 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 14557046 14557046 C G SNP PARN NM_002582 human genbank 54_36p -1 reviewed missense c.1284 p.M428I 1 NULL "HMMPfam_CAF1,superfamily_Ribonuclease H-like,superfamily_R3H domain,HMMPfam_R3H,superfamily_RNA-binding domain RBD,HMMPfam_RNA_bind" - no_errors LOC728138 728138 genome.wustl.edu 36 16 14990025 14990025 + Silent SNP C C T novel Unknown TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 14990025 14990025 C T SNP LOC728138 XM_001128282 human genbank 54_36p -1 model silent c.1419 p.A473 1 HMMPfam_DUF2152 HMMPfam_DUF2152 - no_errors C16orf45 89927 genome.wustl.edu 36 16 15516746 15516756 + Frame_Shift_Del DEL CGGGAAGTCTT CGGGAAGTCTT - novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 CGGGAAGTCTT CGGGAAGTCTT CGGGAAGTCTT - CGGGAAGTCTT CGGGAAGTCTT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15516746 15516756 CGGGAAGTCTT - DEL C16orf45 NM_033201 human genbank 54_36p 1 validated frame_shift_del c.190_200 p.R64fs 1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:0.998:0.999:1.000 NULL NULL "(deletion:cds_exon[15516663,15516786])" no_errors NDE1 54820 genome.wustl.edu 36 16 15698143 15698143 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15698143 15698143 C A SNP NDE1 NM_017668 human genbank 54_36p 1 reviewed missense c.872 p.S291Y 0 HMMPfam_NUDE_C HMMPfam_NUDE_C - no_errors MYH11 4629 genome.wustl.edu 36 16 15743116 15743116 + Splice_Site SNP A A T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15743116 15743116 A T SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed splice_site c.2673+2 e21+2 1 - - - no_errors MYH11 4629 genome.wustl.edu 36 16 15748982 15748982 + Missense_Mutation SNP A A G novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 15748982 15748982 A G SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed missense c.2378 p.I793T 1 "superfamily_SSF52540,HMMSmart_IQ" "HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1" - no_errors IFT140 9742 genome.wustl.edu 36 16 1582488 1582488 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 1582488 1582488 G A SNP IFT140 NM_014714 human genbank 54_36p -1 validated missense c.472 p.R158W 1 superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase "superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_TPR-like" - no_errors ABCC1 4363 genome.wustl.edu 36 16 16080820 16080820 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 16080820 16080820 G C SNP ABCC1 NM_004996 human genbank 54_36p 1 reviewed missense c.2099 p.G700A 1 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_PROTEIN_KINASE_ATP" "superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ABC_TRANSPORTER_1" - no_errors ABCC1 4363 genome.wustl.edu 36 16 16116180 16116180 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1403-01A-01W-0494-09 TCGA-13-1403-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 16116180 16116180 C T SNP ABCC1 NM_004996 human genbank 54_36p 1 reviewed missense c.3136 p.R1046C 1 "HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain" "HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors XYLT1 64131 genome.wustl.edu 36 16 17119016 17119016 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 17119016 17119016 G C SNP XYLT1 NM_022166 human genbank 54_36p -1 validated missense c.2545 p.P849A 1 NULL HMMPfam_Branch - no_errors ABCC6P1 653190 genome.wustl.edu 36 16 18493854 18493854 + RNA SNP C C G novel Unknown TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 18493854 18493854 C G SNP ABCC6P1 NR_003569 human genbank 54_36p 1 provisional rna NULL NULL 0.03 - - - pseudogene SYT17 51760 genome.wustl.edu 36 16 19102587 19102587 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0890-01A-01W-0421-09 TCGA-13-0890-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 19102587 19102587 T G SNP SYT17 NM_016524 human genbank 54_36p 1 validated missense c.568 p.F190V 1 superfamily_C2_CaLB "superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2" - no_errors SEPX1 51734 genome.wustl.edu 36 16 1930805 1930805 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 1930805 1930805 G T SNP SEPX1 ENST00000399753 human ensembl 54_36p -1 known missense c.658 p.Q220K 1 NULL "superfamily_Mss4_like,HMMPfam_SelR" - no_errors GPR139 124274 genome.wustl.edu 36 16 19950734 19950734 + Missense_Mutation SNP C C A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 19950734 19950734 C A SNP GPR139 NM_001002911 human genbank 54_36p -1 validated missense c.886 p.A296S 1 superfamily_Family A G protein-coupled receptor-like "superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1" - no_errors GPR139 124274 genome.wustl.edu 36 16 19950854 19950854 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 19950854 19950854 G A SNP GPR139 NM_001002911 human genbank 54_36p -1 validated missense c.766 p.P256S 1 "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" "HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like" - no_errors LOC100131046 100131046 genome.wustl.edu 36 16 20074259 20074259 + RNA SNP C C T novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20074259 20074259 C T SNP LOC100131046 XR_037711 human genbank 54_36p 1 model rna NULL NULL 0.13 - - - pseudogene UMOD 7369 genome.wustl.edu 36 16 20256187 20256187 + Missense_Mutation SNP G G C novel Unknown TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20256187 20256187 G C SNP UMOD NM_001008389 human genbank 54_36p -1 reviewed missense c.1667 p.A556G 1 "HMMPfam_Zona_pellucida,HMMSmart_SM00241" "superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1" - no_errors ACSM5 54988 genome.wustl.edu 36 16 20356144 20356144 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20356144 20356144 T C SNP ACSM5 NM_017888 human genbank 54_36p 1 validated missense c.1490 p.V497A 0.99 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors ACSM5 54988 genome.wustl.edu 36 16 20356181 20356181 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20356181 20356181 C G SNP ACSM5 NM_017888 human genbank 54_36p 1 validated missense c.1527 p.I509M 1 superfamily_Acetyl-CoA synthetase-like "HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like" - no_errors ACSM2B 348158 genome.wustl.edu 36 16 20461777 20461777 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20461777 20461777 T G SNP ACSM2B NM_001105069 human genbank 54_36p -1 validated missense c.1469 p.E490A 0.98 "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding" "superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING" - no_errors TSC2 7249 genome.wustl.edu 36 16 2076354 2076354 + Missense_Mutation SNP T G G novel Unknown TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2076354 2076354 T G SNP TSC2 NM_000548 human genbank 54_36p 1 reviewed missense c.4822 p.Y1608D 1 "superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP" "superfamily_ARM repeat,HMMPfam_Tuberin,superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20852261 20852261 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20852261 20852261 C G SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.12067 p.E4023Q 1 HMMPfam_Dynein_heavy "HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_Prefoldin,HMMPfam_Dynein_heavy" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20882203 20882203 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 20882203 20882203 C A SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional nonsense c.10504 p.E3502* 1 HMMPfam_Dynein_heavy "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20882273 20882273 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20882273 20882273 A C SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.10434 p.C3478W 1 HMMPfam_Dynein_heavy "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20888760 20888761 + Missense_Mutation DNP TA TA CT novel Unknown TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 TA TA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 20888760 20888761 TA CT DNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.8313_8312 p.L2771Q 0.000:0.847 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 genome.wustl.edu 36 16 20970551 20970551 + Silent SNP A A G novel Unknown TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 20970551 20970551 A G SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional silent c.4179 p.Y1393 1 NULL "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors DNAH3 55567 genome.wustl.edu 36 16 21000511 21000511 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 21000511 21000511 T G SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.2916 p.E972D 0.39 HMMPfam_DHC_N2 "HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TMEM159 57146 genome.wustl.edu 36 16 21098357 21098357 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 21098357 21098357 C T SNP TMEM159 NM_020422 human genbank 54_36p 1 validated silent c.465 p.F155 0 NULL NULL - no_errors METTL9 51108 genome.wustl.edu 36 16 21536719 21536719 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 21536719 21536719 C T SNP METTL9 NM_016025 human genbank 54_36p 1 validated missense c.389 p.S130L 1 HMMPfam_DREV "HMMPfam_DREV,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors LOC440345 440345 genome.wustl.edu 36 16 21756262 21756262 + RNA SNP G G A novel Unknown TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 16 21756262 21756262 G A SNP LOC440345 XR_015786 human genbank 54_36p -1 model rna NULL NULL 0 - - - no_errors MLST8 64223 genome.wustl.edu 36 16 2198833 2198833 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2198833 2198833 A G SNP GBL NM_022372 human genbank 54_36p 1 validated missense c.935 p.Q312R 1 superfamily_WD40 repeat-like "superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1" - no_errors VWA3A 146177 genome.wustl.edu 36 16 22051738 22051738 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 22051738 22051738 A G SNP VWA3A NM_173615 human genbank 54_36p 1 validated missense c.1310 p.Y437C 0.96 superfamily_vWA-like "superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA" - no_errors E4F1 1877 genome.wustl.edu 36 16 2222784 2222784 + Missense_Mutation SNP T G G novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2222784 2222784 T G SNP E4F1 NM_004424 human genbank 54_36p 1 reviewed missense c.757 p.C253G 1 "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2" "superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1" - no_errors LOC100131998 100131998 genome.wustl.edu 36 16 22348687 22348687 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 22348687 22348687 C T SNP LOC100131998 XM_001725049 human genbank 54_36p -1 model missense c.152 p.G51E 1 HMMPfam_RRN3 HMMPfam_RRN3 - pseudogene RNPS1 10921 genome.wustl.edu 36 16 2252307 2252307 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2252307 2252307 C T SNP RNPS1 NM_006711 human genbank 54_36p -1 reviewed missense c.649 p.E217K 1 "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" "superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1" - no_errors ABCA3 21 genome.wustl.edu 36 16 2269010 2269010 + Silent SNP G G A novel Unknown TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2269010 2269010 G A SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed silent c.4482 p.C1494 0.99 "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran" "superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1" - no_errors HS3ST2 9956 genome.wustl.edu 36 16 22833913 22833913 + Silent SNP C C T novel Unknown TCGA-09-0366-01A-01W-0372-09 TCGA-09-0366-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 22833913 22833913 C T SNP HS3ST2 NM_006043 human genbank 54_36p 1 reviewed silent c.633 p.A211 1 "superfamily_SSF52540,HMMPfam_Sulfotransfer_1" "superfamily_SSF52540,HMMPfam_Sulfotransfer_1" - no_errors ABCA3 21 genome.wustl.edu 36 16 2298452 2298452 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 2298452 2298452 C T SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed missense c.1285 p.G429S 1 NULL "HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors USP31 57478 genome.wustl.edu 36 16 22987633 22987633 + Silent SNP C C T novel Unknown TCGA-04-1343-01A-01W-0488-09 TCGA-04-1343-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 22987633 22987633 C T SNP USP31 NM_020718 human genbank 54_36p -1 validated silent c.3294 p.E1098 0.81 NULL "superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2" - no_errors SCNN1G 6340 genome.wustl.edu 36 16 23113021 23113021 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 23113021 23113021 C T SNP SCNN1G NM_001039 human genbank 54_36p 1 validated missense c.838 p.H280Y 1 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors SCNN1B 6338 genome.wustl.edu 36 16 23296016 23296016 + Missense_Mutation SNP G A A novel Unknown TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 16 23296016 23296016 G A SNP SCNN1B NM_000336 human genbank 54_36p 1 validated missense c.1300 p.V434M 0 HMMPfam_ASC "HMMPfam_ASC,PatternScan_ASC" - no_errors ERN2 10595 genome.wustl.edu 36 16 23614081 23614081 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 23614081 23614081 C A SNP ERN2 NM_033266 human genbank 54_36p -1 validated nonsense c.1885 p.E629* 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase" "superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580" - no_errors ERN2 10595 genome.wustl.edu 36 16 23619433 23619433 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 23619433 23619433 C T SNP ERN2 NM_033266 human genbank 54_36p -1 validated missense c.1597 p.G533R 0 NULL "HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_PQQ,HMMSmart_SM00580,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like),superfamily_Quinoprotein alcohol dehydrogenase-like,HMMPfam_Pkinase,HMMSmart_SM00564" - no_errors ERN2 10595 genome.wustl.edu 36 16 23623881 23623881 + Silent SNP G A A novel Unknown TCGA-13-1491-01A-01W-0549-09 TCGA-13-1491-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 23623881 23623881 G A SNP ERN2 NM_033266 human genbank 54_36p -1 validated silent c.822 p.G274 1 superfamily_Quinoprotein alcohol dehydrogenase-like "HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_PQQ,HMMSmart_SM00580,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,superfamily_Protein kinase-like (PK-like),superfamily_Quinoprotein alcohol dehydrogenase-like,HMMPfam_Pkinase,HMMSmart_SM00564" - no_errors PRKCB 5579 genome.wustl.edu 36 16 24138795 24138795 + Missense_Mutation SNP G G A novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24138795 24138795 G A SNP PRKCB NM_212535 human genbank 54_36p 1 reviewed missense c.1876 p.D626N 1 "superfamily_Protein kinase-like (PK-like),HMMSmart_SM00133,HMMPfam_Pkinase_C" ############################################################################################################################################################################################################################################################### - no_errors RBBP6 5930 genome.wustl.edu 36 16 24467772 24467772 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24467772 24467772 G A SNP RBBP6 NM_006910 human genbank 54_36p 1 reviewed missense c.272 p.R91Q 1 NULL "HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00184" - no_errors TNRC6A 27327 genome.wustl.edu 36 16 24708914 24708914 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1483-01A-01W-0549-09 TCGA-13-1483-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24708914 24708914 C T SNP TNRC6A NM_014494 human genbank 54_36p 1 reviewed missense c.1450 p.R484C 1 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD" - no_errors TNRC6A 27327 genome.wustl.edu 36 16 24710529 24710530 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24710529 24710530 GG TT DNP TNRC6A NM_014494 human genbank 54_36p 1 reviewed missense c.3065_3066 p.W1022F 1.000:1.000 HMMPfam_Ago_hook "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD" - no_errors TNRC6A 27327 genome.wustl.edu 36 16 24712301 24712301 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24712301 24712301 G T SNP TNRC6A NM_014494 human genbank 54_36p 1 reviewed missense c.3182 p.G1061V 1 NULL "PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD" - no_errors SLC5A11 115584 genome.wustl.edu 36 16 24809842 24809842 + Silent SNP G G T novel Unknown TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 16 24809842 24809842 G T SNP SLC5A11