X1,uniprot_id,oAA,nAA,protPos,AnnoType,Consequence,ConsScore,ConsDetail,effect,GC,CpG,ESP_AF,ESP_AFR,ESP_EUR,TG_AF,TG_ASN,TG_AMR,TG_AFR,TG_EUR,minDistTSS,minDistTSE,GeneID,FeatureID,CCDS,GeneName,relProtPos,PolyPhenCat,PolyPhenVal,SIFTcat,SIFTval,RawScore,Cscore,id2,AA1,AA2,position,WT_Mut,Variant,AA1_polarity,AA2_polarity,AA1_PI,AA2_PI,deltaPI,AA1_weight,AA2_weight,deltaWeight,AA1vol,AA2vol,deltavolume,Grantham,AA1_psic,AA2_psic,delta_psic,accessibility,dssp_sec_str,phi_psi_reg,delta_solvent_accessibility,b_factor,mut_msa_congruency,mut_mut_msa_congruency,seq_ind_closest_mut,evolutionary_coupling_avg,evolutionary_coupling_prop,evolutionary_coupling_avg_norm,Envision_predictions
9808,O15266,E,X,102,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0,0,,,,,,,,,2107412,2107516,ENSG00000185960,ENST00000558872,,SHOX,0.45,,,,,2.20116,13.32,O15266_E102X,E,X,102,EX,E102X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00252454,0,0.086092,0.961863
9809,O15266,L,V,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0,0,,,,,,,,,2107322,2107426,ENSG00000185960,ENST00000558872,,SHOX,0.59,probably_damaging,0.999,deleterious,0,0.647982,7.478,O15266_L132V,L,V,132,LV,L132V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.347,-2.535,1.188,,,,,,,,,0.00193856,0,0.0661089,0.918862
9810,O15266,R,L,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0,0,,,,,,,,,2107258,2107362,ENSG00000185960,ENST00000558872,,SHOX,0.68,probably_damaging,0.998,deleterious,0,2.19283,13.29,O15266_R153L,R,L,153,RL,R153L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.582,-3.04,1.458,,,,,,,,,0.00187355,0,0.0638919,0.891685
9811,O15266,R,C,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0,0,,,,,,,,,2101205,2101309,ENSG00000185960,ENST00000558872,,SHOX,0.77,probably_damaging,1,deleterious,0,0.342572,5.858,O15266_R173C,R,C,173,RC,R173C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.582,-4.769,3.187,,,,,,,,,0.0019129,0,0.0652338,0.753749
9812,O15266,Y,X,199,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0,0,,,,,,,,,2101005,2101109,ENSG00000185960,ENST00000558872,,SHOX,0.88,,,,,1.02789,9.199,O15266_Y199X,Y,X,199,YX,Y199X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00295203,0,0.10067,0.945391
9813,O15266,X,R,293,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0,0,,,,,,,,,2097422,2097526,ENSG00000185960,ENST00000554971,CCDS14107.1,SHOX,1,,,,,-3.03033,0.001,O15266_X293R,X,R,293,XR,X293R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,,,,0.934274
279,Q9NTN3,W,X,311,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.23,0.03,0,0,0,,,,,,43936,1598,ENSG00000116704,ENST00000235345,CCDS636.1,SLC35D1,0.88,,,,,5.67903,36,Q9NTN3_W311X,W,X,311,WX,W311X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
8134,Q96RL7,I,K,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.23,0.01,,,,,,,,,27645,4040,ENSG00000197969,ENST00000357409,CCDS6656.1,VPS13A,0.03,probably_damaging,0.988,deleterious,0,4.58888,25,Q96RL7_I90K,I,K,90,IK,I90K,Hydrophobic,PositiveCharge,6.02,9.74,3.72,131,146,15,166.7,168.6,1.9,102,-1.302,-3.717,2.415,,,,,,1.358,,51.13,,,,0.779201
668,Q8IZT6,,,,Transcript,INTRONIC,2,intron,pathogenic,0.25,0.01,,,,,,,,,6455,44558,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,,,,,,1.2145,9.93,Q8IZT6_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1722,Q8NCM8,R,X,2838,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.25,0.01,,,,,,,,,5022,5959,ENSG00000187240,ENST00000398093,CCDS44717.1,DYNC2H1,0.66,,,,,14.6138,48,Q8NCM8_R2838X,R,X,2838,RX,R2838X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3315,Q68CZ1,Q,X,345,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.25,0.01,,,,,,,,,32265,29,ENSG00000103494,ENST00000562230,,RPGRIP1L,0.97,,,,,4.1902,21.7,Q68CZ1_Q345X,Q,X,345,QX,Q345X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000374169,0,0.0127599,0.98231
5451,P98073,Q,X,261,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.25,0.01,,,,,,,,,43801,90740,ENSG00000154646,ENST00000284885,CCDS13571.1,TMPRSS15,0.26,,,,,4.15981,21.5,P98073_Q261X,Q,X,261,QX,Q261X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
662,Q8IZT6,L,X,1063,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.26,0,,,,,,,,,10833,40180,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.31,,,,,10.3999,43,Q8IZT6_L1063X,L,X,1063,LX,L1063X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
973,P60484,H,D,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.26,0,,,,,,,,,6,7959,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.15,probably_damaging,0.997,deleterious,0,4.42083,23.5,P60484_H61D,H,D,61,HD,H61D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,-1.627,-3.15,1.523,,,,,,,,,0.00138207,0,0.0471316,0.836197
2739,Q9P0W8,R,X,27,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.26,0.04,,,,,,,,,4408,513,ENSG00000042317,ENST00000554802,,SPATA7,0.36,,,,,3.16039,16.57,Q9P0W8_R27X,R,X,27,RX,R27X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3308,Q9NQC7,R,X,573,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.26,0.01,,,,,,,,,991,2262,ENSG00000083799,ENST00000568704,,CYLD,0.74,,,,,8.3787,40,Q9NQC7_R573X,R,X,573,RX,R573X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4044,Q14574,L,X,85,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.26,0.01,,,,,,,,,5195,7598,ENSG00000134762,ENST00000584980,,DSC3,0.4,,,,,4.25402,22.2,Q14574_L85X,L,X,85,LX,L85X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
4130,Q6UXH8,C,S,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.26,0,,,,,,,,,13,45018,ENSG00000183287,ENST00000439986,CCDS32838.1,CCBE1,0.18,benign,0.031,deleterious,0,2.87803,15.59,Q6UXH8_C75S,C,S,75,CS,C75S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.412,-3.121,1.709,,,,,,,,,0.00175948,0,0.060002,0.862703
7206,Q5T1H1,Y,X,3156,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.26,0,,,,,,,,,13832,30,ENSG00000188107,ENST00000370616,,EYS,1,,,,,15.0333,49,Q5T1H1_Y3156X,Y,X,3156,YX,Y3156X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
7622,P13569,P,H,544,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.26,0,,,,,,,,,110299,76678,ENSG00000001626,ENST00000426809,,CFTR,0.38,probably_damaging,1,deleterious,0,4.20896,21.8,P13569_P544H,P,H,544,PH,P544H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,,,,,,,,,,,,0.000438539,0,0.0149551,0.981049
8222,O95163,P,L,565,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.26,0.01,,,,,,,,,979,25421,ENSG00000070061,ENST00000537196,,IKBKAP,0.57,probably_damaging,0.967,deleterious,0.04,4.73269,26.4,O95163_P565L,P,L,565,PL,P565L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
8586,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.26,0.01,,,,,,,,,17190,33873,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,3.51627,17.96,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9492,O60880,X,R,126,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.26,0,,,,,,,,,24800,100,ENSG00000183918,ENST00000360027,CCDS48162.1,SH2D1A,1,,,,,3.18329,16.65,O60880_X126R,X,R,126,XR,X126R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,0.0750731,1,2.56015,0.938257
7623,P13569,G,A,546,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.27,0,0.005,0.002,0.007,0.004,,0.01,,0.01,110305,76672,ENSG00000001626,ENST00000426809,,CFTR,0.38,possibly_damaging,0.687,tolerated,0.31,2.94267,15.81,P13569_G546A,G,A,546,GA,G546A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,,,,,,,,,,,,0.000522506,0,0.0178185,0.991768
8587,P00480,L,S,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.27,0.01,,,,,,,,,17201,33862,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.21,possibly_damaging,0.792,tolerated,0.41,2.59669,14.64,P00480_L76S,L,S,76,LS,L76S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.995,-2.684,0.689,0.372,T,A,0.82,-0.45,9.878,9.878,75.71,0.00555895,0,0.189572,0.889639
9082,P46100,K,N,1612,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.27,0,,,,,,,,,2488,854,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.66,possibly_damaging,0.839,,,2.60824,14.68,P46100_K1612N,K,N,1612,KN,K1612N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,,,,,,,,,,,,,,,0.939744
117,Q8IZT6,S,F,1090,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.28,0,0.049,0.144,0,0.04,,0.02,0.16,,10914,40099,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.31,benign,0.014,deleterious,0.03,0.677857,7.626,Q8IZT6_S1090F,S,F,1090,SF,S1090F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.96,-3.283,1.323,,,,,,11.916,9.8,90.74,,,,0.915802
224,P24666,Q,R,106,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.28,0,0.303,0.223,0.344,0.25,0.22,0.24,0.18,0.33,2430,259,ENSG00000143727,ENST00000272065,CCDS1639.1,ACP1,0.67,benign,0.222,tolerated,0.33,1.59566,11.29,P24666_Q106R,Q,R,106,QR,Q106R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-2.241,-2.55,0.309,0.713,T,A,0.56,1.39,19.815,19.815,88.61,0.0123202,0.0192308,0.487236,1.00887
327,P35573,G,R,1448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0,,,,,,,,,55282,7529,ENSG00000162688,ENST00000370163,CCDS759.1,AGL,0.95,probably_damaging,0.999,deleterious,0,4.856,27.7,P35573_G1448R,G,R,1448,GR,G1448R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,,,,0.752854
762,Q99698,W,X,2861,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.28,0,,,,,,,,,4149,72809,ENSG00000143669,ENST00000389793,CCDS31062.1,LYST,0.75,,,,,17.4213,51,Q99698_W2861X,W,X,2861,WX,W2861X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
1697,P49959,R,X,605,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.28,0.01,,,,,,,,,56638,17328,ENSG00000020922,ENST00000323977,CCDS8298.1,MRE11A,0.89,,,,,6.28795,37,P49959_R605X,R,X,605,RX,R605X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000934121,0,0.0318555,0.943372
1737,Q13315,L,P,2656,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0,,,,,,,,,1148,17,ENSG00000149311,ENST00000452508,CCDS31669.1,ATM,0.87,probably_damaging,0.983,deleterious,0,4.3567,23,Q13315_L2656P,L,P,2656,LP,L2656P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.284,-3.97,2.686,,,,,,0.665,,44.83,,,,0.759224
3872,Q9BX63,R,X,798,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.28,0.03,0,0,0,,,,,,145489,31279,ENSG00000136492,ENST00000259008,CCDS11631.1,BRIP1,0.64,,,,,7.75731,39,Q9BX63_R798X,R,X,798,RX,R798X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000564412,0,0.0192476,0.977351
4898,Q8N3I7,G,S,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0.01,,,,,,,,,49,5276,ENSG00000163093,ENST00000295240,CCDS2233.1,BBS5,0.21,probably_damaging,1,deleterious,0,5.41014,34,Q8N3I7_G72S,G,S,72,GS,G72S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.319,-3.094,1.775,,,,,,2.324,,71.85,0.00192953,0,0.065801,1.04715
5082,Q13618,D,G,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0.01,,,,,,,,,534,799,ENSG00000036257,ENST00000344951,,CUL3,0.49,probably_damaging,0.917,deleterious,0,4.6414,25.5,Q13618_D347G,D,G,347,DG,D347G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.264,-2.815,1.551,,,,,,,,,0.0015801,0,0.0538845,0.825198
5083,Q13618,L,L,346,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.28,0.01,,,,,,,,,532,801,ENSG00000036257,ENST00000344951,,CUL3,0.49,,,,,1.15235,9.693,Q13618_L346L,L,L,346,LL,L346L,Hydrophobic,Hydrophobic,9.71,9.71,0,131,131,0,166.7,166.7,0,0,,,,,,,,,,,,0.000751596,0,0.025631,1.00426
6009,Q9UBX0,E,K,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0.01,,,,,,,,,1534,385,ENSG00000163666,ENST00000295934,CCDS2881.1,HESX1,0.81,probably_damaging,0.999,deleterious,0,4.79318,27,Q9UBX0_E149K,E,K,149,EK,E149K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.2,-2.97,1.77,,,,,,3.451,,75.68,0.00250739,0,0.0855071,0.960543
7288,P15260,C,Y,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0.01,,,,,,,,,12236,364,ENSG00000027697,ENST00000543628,,IFNGR1,0.11,probably_damaging,0.999,deleterious,0,2.57741,14.58,P15260_C49Y,C,Y,49,CY,C49Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.0027607,0,0.0941456,0.941339
7882,P49638,R,H,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0.01,,,,,,,,,21756,4511,ENSG00000137561,ENST00000260116,CCDS6178.1,TTPA,0.69,probably_damaging,0.962,deleterious,0,5.16239,32,P49638_R192H,R,H,192,RH,R192H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,0.457,E,A,1.03,1.24,,,,0.00501547,0,0.171038,0.738346
7888,O75881,F,S,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0,,,,,,,,,80,19759,ENSG00000172817,ENST00000310193,CCDS6180.1,CYP7B1,0.43,probably_damaging,0.988,deleterious,0,2.50307,14.33,O75881_F216S,F,S,216,FS,F216S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.466,-3.605,2.139,,,,,,2.62,,76.48,,,,0.820675
8476,P32189,N,D,288,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0,,,,,,,,,9377,7586,ENSG00000198814,ENST00000378945,CCDS35224.1,GK,0.55,probably_damaging,1,deleterious,0,4.22928,22,P32189_N288D,N,D,288,ND,N288D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,,,,,,,,,,,,0.000216875,0,0.0073959,1.00526
8588,P00480,L,F,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0.01,,,,,,,,,17205,33858,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.22,probably_damaging,0.962,deleterious,0.02,3.31282,17.14,P00480_L77F,L,F,77,LF,L77F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.164,-2.408,1.244,,T,a,0.03,-0.53,15.897,15.897,92.66,0.00321388,0,0.1096,0.874907
8589,P00480,Q,X,78,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.28,0.01,,,,,,,,,17206,33857,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.22,,,,,6.50294,37,P00480_Q78X,Q,X,78,QX,Q78X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00571907,0,0.195032,0.926666
9528,P00492,V,D,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0.01,,,,,,,,,16818,8450,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.6,probably_damaging,0.955,deleterious,0,4.18366,21.7,P00492_V130D,V,D,130,VD,V130D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.564,-3.78,2.216,,E,B,1.19,-0.04,1.41,,91.74,0.00670747,0,0.228739,0.727167
9529,P00492,I,M,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.28,0.01,,,,,,,,,16825,8443,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.61,possibly_damaging,0.857,deleterious,0,3.54729,18.09,P00492_I132M,I,M,132,IM,I132M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.719,-3.891,2.172,,E,B,0.07,-0.61,2.303,,91.74,0.00734313,0,0.250416,0.757554
660,Q8IZT6,S,X,1237,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.29,0,,,,,,,,,12955,38058,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.36,,,,,11.3687,45,Q8IZT6_S1237X,S,X,1237,SX,S1237X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
820,Q96SD1,R,X,81,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.29,0.04,0,0,0,,,,,,8909,10387,ENSG00000152457,ENST00000378278,CCDS31149.1,DCLRE1C,0.12,,,,,5.29715,34,Q96SD1_R81X,R,X,81,RX,R81X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00122476,0,0.0417669,0.900587
4899,Q8N3I7,R,H,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.29,0.01,,,,,,,,,5138,187,ENSG00000163093,ENST00000295240,CCDS2233.1,BBS5,0.4,probably_damaging,1,deleterious,0,5.01417,29.5,Q8N3I7_R138H,R,H,138,RH,R138H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.704,-2.131,0.427,,,,,,25.333,25.333,71.55,0.00189752,0,0.0647093,1.12212
5088,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.29,0.01,,,,,,,,,477,856,ENSG00000228446,ENST00000440417,,AC073052.1,,,,,,1.58688,11.26,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5089,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.29,0.01,,,,,,,,,475,858,ENSG00000228446,ENST00000440417,,AC073052.1,,,,,,0.099824,4.538,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6811,Q16637,G,R,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.29,0,0.004,0.001,0.005,,,,,,5881,162,ENSG00000205571,ENST00000380742,CCDS4008.1,SMN2,0.97,probably_damaging,0.993,tolerated,0.12,1.6182,11.37,Q16637_G255R,G,R,255,GR,G255R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00282048,0,0.096184,0.945499
7485,P16671,I,L,374,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.29,0.01,,,,,,,,,16,728,ENSG00000135218,ENST00000433696,,CD36,0.86,benign,0.086,tolerated,0.13,0.894429,8.634,P16671_I374L,I,L,374,IL,I374L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,0.0017662,0,0.0602312,0.963636
7493,Q99996,S,L,1570,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.29,0,0,0,0,,,,,,15,1092,ENSG00000127914,ENST00000356239,CCDS5622.1,AKAP9,0.4,benign,0,,,-1.0526,0.192,Q99996_S1570L,S,L,1570,SL,S1570L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,,,,0.932753
7571,P09622,R,G,495,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.29,0.01,,,,,,,,,28038,382,ENSG00000091140,ENST00000417551,CCDS5749.1,DLD,0.97,benign,0.138,deleterious,0,3.00917,16.04,P09622_R495G,R,G,495,RG,R495G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.659,-3.224,1.565,0.124,H,A,0.91,0.33,3.92,,89.78,0.00763901,0,0.260506,0.772725
7621,P13569,Y,N,533,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.29,0,,,,,,,,,110265,76712,ENSG00000001626,ENST00000426809,,CFTR,0.37,probably_damaging,1,deleterious,0,4.08811,21,P13569_Y533N,Y,N,533,YN,Y533N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,,,,,,,,,,,,0.000573101,0,0.0195439,0.956052
8135,Q96RL7,R,X,208,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.29,0.01,,,,,,,,,35706,169767,ENSG00000197969,ENST00000357409,CCDS6656.1,VPS13A,0.07,,,,,6.93758,38,Q96RL7_R208X,R,X,208,RX,R208X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9081,P46100,P,S,1673,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.29,0.01,,,,,,,,,153005,128320,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.68,probably_damaging,0.998,,,3.57096,18.2,P46100_P1673S,P,S,1673,PS,P1673S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,,,,0.954036
9126,P24386,R,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.29,0.03,,,,,,,,,89387,93588,ENSG00000188419,ENST00000537751,,CHM,0.29,,,,,6.01062,37,P24386_R145X,R,X,145,RX,R145X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9526,P00492,Q,X,109,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.29,0,,,,,,,,,13097,12171,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.5,,,,,6.14067,37,P00492_Q109X,Q,X,109,QX,Q109X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00949015,0,0.323634,0.917573
348,P01023,R,H,704,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.3,0.03,,,,,,,,,6508,3591,ENSG00000175899,ENST00000318602,CCDS44827.1,A2M,0.48,benign,0.242,tolerated,0.13,0.785498,8.142,P01023_R704H,R,H,704,RH,R704H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.364,-3.462,1.098,,,,,,20.56,20.56,82.43,0.00122598,0.0012987,0.048485,0.990146
376,O75445,I,T,2169,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.3,0.01,0.481,0.438,0.503,0.59,0.85,0.62,0.43,0.5,424359,376144,ENSG00000042781,ENST00000366943,,USH2A,0.42,benign,0.082,tolerated,0.24,0.866247,8.51,O75445_I2169T,I,T,2169,IT,I2169T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,,,,0.951663
377,O75445,I,T,1665,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.3,0.01,0.114,0.028,0.157,0.08,0.02,0.11,0.004,0.16,238,1491,ENSG00000042781,ENST00000307340,CCDS31025.1,USH2A,0.32,benign,0.023,tolerated,0.11,1.40069,10.62,O75445_I1665T,I,T,1665,IT,I1665T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,,,,0.951663
42,O00187,,,,Intergenic,DOWNSTREAM,1,downstream,pathogenic,0.3,0,,,,,,,,,462,122,ENSG00000009724,ENST00000400897,CCDS123.1,MASP2,,,,,,2.64689,14.81,O00187_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
297,P11310,R,T,281,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,55,3,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.67,probably_damaging,1,deleterious,0,4.02152,20.6,P11310_R281T,R,T,281,RT,R281T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.565,-3.302,1.737,0.09,H,A,0.98,0.44,2.612,,88.6,0.000766283,0,0.0261318,0.809505
656,Q8IZT6,W,X,1358,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.3,0,,,,,,,,,29968,21045,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.39,,,,,11.0297,44,Q8IZT6_W1358X,W,X,1358,WX,W1358X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
659,Q8IZT6,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.3,0,,,,,,,,,12987,38026,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,,,,,,4.3974,23.3,Q8IZT6_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1007,O95970,R,W,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,35,27,ENSG00000108231,ENST00000371413,,LGI1,0.47,probably_damaging,1,deleterious,0,4.01232,20.6,O95970_R136W,R,W,136,RW,R136W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.543,-5.203,3.66,,,,,,0.223,,61.58,,,,0.781526
1765,Q03393,D,G,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.03,,,,,,,,,3065,66,ENSG00000150787,ENST00000524931,,PTS,0.62,benign,0.045,tolerated,0.1,2.61143,14.69,Q03393_D48G,D,G,48,DG,D48G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.008651,0,0.295017,0.92417
1976,P01116,V,G,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.04,,,,,,,,,14630,262,ENSG00000133703,ENST00000311936,CCDS8702.1,KRAS,0.81,probably_damaging,0.998,deleterious,0,4.03815,20.7,P01116_V152G,V,G,152,VG,V152G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.782,-3.186,1.404,0.008,H,A,0.73,-1.01,,,,0.00473692,0,0.161539,0.666437
2408,Q5TBB1,P,H,43,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,893,4,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.14,probably_damaging,0.998,deleterious,0,2.51398,14.37,Q5TBB1_P43H,P,H,43,PH,P43H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.236,-4.451,3.215,0.038,T,A,0.35,0.19,1.325,,68.59,0.00169261,0,0.0577215,0.68312
2409,Q5TBB1,C,X,44,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.3,0,0,0,0,,,,,,889,8,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.14,,,,,3.69988,18.79,Q5TBB1_C44X,C,X,44,CX,C44X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00413019,0,0.140848,0.953637
2770,Q05086,T,P,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,33709,3679,ENSG00000114062,ENST00000566215,CCDS32177.1,UBE3A,0.12,possibly_damaging,0.608,tolerated,0.09,2.99282,15.98,Q05086_T106P,T,P,106,TP,T106P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,,,,0.953923
3440,P43034,F,S,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.03,,,,,,,,,55892,660,ENSG00000007168,ENST00000576586,,PAFAH1B1,0.38,probably_damaging,0.985,deleterious,0,4.5438,24.5,P43034_F31S,F,S,31,FS,F31S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.87,-3.214,1.344,,,,,,,,,0.000599089,0,0.0204302,0.882419
4048,Q14126,N,S,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,26511,24455,ENSG00000046604,ENST00000261590,CCDS42423.1,DSG2,0.24,probably_damaging,0.999,deleterious,0,4.60756,25.1,Q14126_N266S,N,S,266,NS,N266S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-0.975,-2.811,1.836,,,,,,,,,8.6e-05,0,0.0029331,0.916741
4099,Q7RTS9,Y,X,132,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.3,0,0,0,0,,,,,,58,32,ENSG00000141627,ENST00000269445,CCDS11937.1,DYM,0.2,,,,,8.13361,40,Q7RTS9_Y132X,Y,X,132,YX,Y132X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00111003,0,0.0378542,0.902575
4868,P35498,F,L,1499,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.03,,,,,,,,,3965,46,ENSG00000144285,ENST00000423058,,SCN1A,0.75,probably_damaging,0.998,deleterious,0,4.84536,27.6,P35498_F1499L,F,L,1499,FL,F1499L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.4,-1.89,0.49,,,,,,28.154,28.154,74.97,1.9e-05,0,0.000648598,1.00762
4877,P35498,M,T,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,17172,65205,ENSG00000144285,ENST00000423058,,SCN1A,0.07,probably_damaging,0.977,deleterious,0,4.19151,21.7,P35498_M145T,M,T,145,MT,M145T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.541,-3.198,1.657,,,,,,,,,0.000205985,0,0.00702452,0.911277
4900,Q8N3I7,T,A,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,6003,679,ENSG00000163093,ENST00000295240,CCDS2233.1,BBS5,0.54,possibly_damaging,0.866,deleterious,0,5.25754,33,Q8N3I7_T183A,T,A,183,TA,T183A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.533,-2.533,1,,,,,,7.85,,71.85,0.00350396,0,0.119492,1.0636
5084,Q13618,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.3,0.01,,,,,,,,,502,831,ENSG00000036257,ENST00000344951,,CUL3,,,,,,4.06224,20.9,Q13618_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5087,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.3,0.01,,,,,,,,,491,842,ENSG00000228446,ENST00000440417,,AC073052.1,,,,,,2.73464,15.11,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6057,Q04446,L,P,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,1003,92,ENSG00000114480,ENST00000489715,,GBE1,0.28,probably_damaging,0.999,deleterious,0,4.24279,22.1,Q04446_L183P,L,P,183,LP,L183P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00242829,0,0.0828097,0.964854
6252,P14410,V,G,577,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.03,0.001,0,0.001,0.001,,,,0.001,31498,68100,ENSG00000090402,ENST00000264382,CCDS3196.1,SI,0.32,probably_damaging,0.992,deleterious,0,2.37909,13.91,P14410_V577G,V,G,577,VG,V577G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.269,-3.324,2.055,0.142,H,A,0.73,0.47,2.168,,46.09,0.000480552,0,0.0163878,0.651574
6254,P06276,A,T,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.03,0.198,0.19,0.202,0.16,0.16,0.13,0.14,0.19,63929,408,ENSG00000114200,ENST00000540653,,BCHE,0.45,benign,0.022,deleterious,0.05,2.96988,15.9,P06276_A29T,A,T,29,AT,A29T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00196242,0,0.0669228,0.975991
6538,P02768,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.3,0,,,,,,,,,336,57,ENSG00000163631,ENST00000509063,,ALB,,,,,,1.36687,10.5,P02768_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6556,Q9NZW4,A,V,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,76,5922,ENSG00000152591,ENST00000282478,CCDS43248.1,DSPP,0.01,probably_damaging,0.996,,,3.10573,16.38,Q9NZW4_A15V,A,V,15,AV,A15V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.013,-2.896,1.883,,,,,,,,,0.00019086,0,0.00650871,0.901921
6608,Q8IVH4,R,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.3,0.01,0,0,0,,,,,,479,7051,ENSG00000151611,ENST00000281317,CCDS3766.1,MMAA,0.35,,,,,14.4924,48,Q8IVH4_R145X,R,X,145,RX,R145X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000850689,0,0.0290103,0.977351
6755,Q6KC79,E,X,2211,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.3,0.01,,,,,,,,,171753,15648,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.82,,,,,16.0638,50,Q6KC79_E2211X,E,X,2211,EX,E2211X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
6798,O96007,X,Y,189,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.3,0.01,,,,,,,,,9496,62,ENSG00000164172,ENST00000396954,CCDS3958.1,MOCS2,1,,,,,1.89209,12.28,O96007_X189Y,X,Y,189,XY,X189Y,Stop,Hydrophobic,5.71,5.66,-0.05,132.5,181,48.5,141.9,193.6,51.7,,,,,,,,,,,,,,,,0.93497
6837,P20936,C,Y,373,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,31849,81,ENSG00000145715,ENST00000512763,,RASA1,0.42,probably_damaging,0.999,deleterious,0,4.56385,24.7,P20936_C373Y,C,Y,373,CY,C373Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.000988408,0,0.0337068,0.900841
6931,P04150,L,P,773,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.03,,,,,,,,,118948,94,ENSG00000113580,ENST00000394464,CCDS4278.1,NR3C1,0.99,probably_damaging,0.977,deleterious,0,3.0623,16.22,P04150_L773P,L,P,773,LP,L773P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.3,-3.875,2.575,0.679,.,B,1.07,-0.46,0.359,,19.69,0.0527875,0,1.80016,0.682204
7226,Q9UGP8,W,X,2,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.3,0.04,,,,,,,,,623,717,ENSG00000025796,ENST00000429168,,SEC63,0.01,,,,,4.60885,25.2,Q9UGP8_W2X,W,X,2,WX,W2X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
7542,O43511,V,F,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,0,0,0,,,,,,11241,19,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.18,probably_damaging,0.957,deleterious,0.05,4.26287,22.2,O43511_V138F,V,F,138,VF,V138F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.472,-3.369,1.897,,,,,,23.869,23.869,88.85,0.00151414,0,0.0516351,0.953884
7624,P13569,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.3,0,0,0,0,,,,,,110345,76632,ENSG00000001626,ENST00000426809,,CFTR,,,,,,4.52691,24.4,P13569_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7625,P13569,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.3,0,,,,,,,,,110345,76632,ENSG00000001626,ENST00000426809,,CFTR,,,,,,4.4063,23.4,P13569_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7626,P13569,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.3,0,,,,,,,,,110345,76632,ENSG00000001626,ENST00000426809,,CFTR,,,,,,4.46659,23.9,P13569_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7829,Q56NI9,,,,Transcript,INTRONIC,2,intron,pathogenic,0.3,0,,,,,,,,,12451,6952,ENSG00000171320,ENST00000305188,CCDS34872.1,ESCO2,,,,,,0.002289,4.026,Q56NI9_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7832,Q14191,K,M,577,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,3199,82921,ENSG00000165392,ENST00000298139,CCDS6082.1,WRN,0.4,probably_damaging,1,deleterious,0,4.16325,21.5,Q14191_K577M,K,M,577,KM,K577M,PositiveCharge,Hydrophobic,9.74,5.74,-4,146,149,3,168.6,162.9,-5.7,95,-1.012,-4.336,3.324,,,,,,,,,,,,0.766015
7919,O60934,R,W,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,0.002,0,0.004,0.002,,0.003,,0.01,10424,712,ENSG00000104320,ENST00000517772,,NBN,0.81,probably_damaging,0.983,deleterious,0.03,3.21567,16.77,O60934_R133W,R,W,133,RW,R133W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00120006,0,0.0409246,0.911329
8148,O15269,V,D,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,0,0,0,,,,,,47282,8916,ENSG00000090054,ENST00000262554,CCDS6692.1,SPTLC1,0.3,probably_damaging,0.999,deleterious,0,3.84901,19.55,O15269_V144D,V,D,144,VD,V144D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.449,-3.649,2.2,,,,,,2.501,,85.62,0.00313388,0,0.106872,0.874846
8311,Q7Z333,Q,X,868,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.3,0,,,,,,,,,25990,67556,ENSG00000107290,ENST00000372169,,SETX,0.32,,,,,6.98275,38,Q7Z333_Q868X,Q,X,868,QX,Q868X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8402,O76039,C,F,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,139754,71684,ENSG00000008086,ENST00000379989,CCDS14186.1,CDKL5,0.15,probably_damaging,0.979,deleterious,0,4.38013,23.1,O76039_C152F,C,F,152,CF,C152F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.293,-3.844,2.551,,,,,,,,,,,,0.758177
8431,P51812,F,S,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,32524,31081,ENSG00000177189,ENST00000379548,,RPS6KA3,0.34,probably_damaging,0.994,deleterious,0,4.39174,23.2,P51812_F239S,F,S,239,FS,F239S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,0.000247486,0,0.0084398,0.955187
8590,P00480,G,E,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,17210,33853,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.22,probably_damaging,0.998,deleterious,0,4.38675,23.2,P00480_G79E,G,E,79,GE,G79E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.245,-2.992,1.747,0.862,T,l,0.75,-0.56,24.084,24.084,81.07,0.0034325,0,0.117055,0.908451
8592,P00480,K,N,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,17214,33849,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.23,possibly_damaging,0.851,deleterious,0,3.63778,18.5,P00480_K80N,K,N,80,KN,K80N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-1.246,-3.766,2.52,0.34,.,B,1.73,0.37,3.273,,75.14,0.003386,0,0.11547,0.772882
9078,P46100,D,V,1997,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,192531,88794,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.81,probably_damaging,0.999,,,3.00105,16.01,P46100_D1997V,D,V,1997,DV,D1997V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,,,,0.933866
9469,Q9BZI7,Y,D,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,1962,5027,ENSG00000125351,ENST00000345865,CCDS14587.1,UPF3B,0.34,possibly_damaging,0.77,deleterious,0,3.37413,17.38,Q9BZI7_Y160D,Y,D,160,YD,Y160D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.338,-3.608,2.27,,,,,,2.901,,79.71,0.00126988,0,0.0433054,0.834716
9525,P00492,S,R,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,1984,23284,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.48,probably_damaging,0.989,deleterious,0,3.35972,17.32,P00492_S104R,S,R,104,SR,S104R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.656,-3.642,1.986,0.8,.,B,0.93,2.03,1.229,,77.06,0.0026891,0,0.0917038,0.816693
9527,P00492,S,L,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0,,,,,,,,,13101,12167,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.5,possibly_damaging,0.85,deleterious,0,4.56225,24.7,P00492_S110L,S,L,110,SL,S110L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.519,-3.04,1.521,0.456,.,b,0.82,2.29,,,,0.00707389,0.00925926,0.241234,0.847316
9538,P00492,D,E,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,25283,16,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.89,benign,0.243,deleterious,0,3.19453,16.69,P00492_D194E,D,E,194,DE,D194E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.264,-2.447,1.183,0.287,.,B,0.29,-0.15,,,,0.00734492,0,0.250477,0.808581
9539,P00492,F,V,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,25296,29,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.91,probably_damaging,0.969,deleterious,0,3.81047,19.35,P00492_F199V,F,V,199,FV,F199V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.524,-2.985,1.461,0.006,S,l,0.14,-0.59,,,,0.0112977,0,0.385275,0.717031
9540,P00492,D,G,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.01,,,,,,,,,25303,36,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.92,possibly_damaging,0.721,deleterious,0,4.39442,23.3,P00492_D201G,D,G,201,DG,D201G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.264,-2.815,1.551,0.488,T,A,0.46,-0.9,,,,0.00727687,0,0.248156,0.745138
9662,Q13496,R,C,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.3,0.03,,,,,,,,,30031,40371,ENSG00000171100,ENST00000370396,CCDS14694.1,MTM1,0.11,probably_damaging,0.997,deleterious,0,3.55938,18.15,Q13496_R69C,R,C,69,RC,R69C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.657,-4.864,3.207,0.111,E,B,1.66,-0.15,0.682,,79.1,0.00156364,0,0.0533235,0.604894
292,P11310,T,A,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.01,,,,,,,,,5457,9431,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.46,probably_damaging,0.976,deleterious,0,4.65784,25.6,P11310_T193A,T,A,193,TA,T193A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.245,-2.588,1.343,0.245,E,B,0.22,-0.24,,,,0.00247614,0,0.0844416,0.814087
293,P11310,G,R,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.01,0,0,0,,,,,,5463,9425,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.46,probably_damaging,0.999,deleterious,0,4.55556,24.7,P11310_G195R,G,R,195,GR,G195R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,T,A,0.91,-0.37,,,,0.00389339,0,0.132773,0.536094
536,P12259,I,T,387,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.01,,,,,,,,,33789,6204,ENSG00000198734,ENST00000367796,,F5,0.17,probably_damaging,0.999,deleterious,0.01,4.39189,23.2,P12259_I387T,I,T,387,IT,I387T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.087,-3.296,2.209,,,,,,,,,0.000170918,0,0.00582866,0.832763
653,Q8IZT6,R,X,2078,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.31,0.01,,,,,,,,,32126,18887,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.6,,,,,13.9883,48,Q8IZT6_R2078X,R,X,2078,RX,R2078X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
669,Q8IZT6,Q,X,664,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.31,0.01,,,,,,,,,496,1055,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.19,,,,,8.2631,40,Q8IZT6_Q664X,Q,X,664,QX,Q664X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1104,P04181,G,D,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.03,0,0,0,,,,,,2396,791,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.71,probably_damaging,0.997,deleterious,0,4.17994,21.6,P04181_G215D,G,D,215,GD,G215D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00274387,0,0.0935715,0.951954
1205,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.31,0,,,,,,,,,901,268,,ENSR00000317286,,,,,,,,-0.50311,1.695,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1975,P01116,F,L,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.04,,,,,,,,,14617,249,ENSG00000133703,ENST00000311936,CCDS8702.1,KRAS,0.83,benign,0.322,deleterious,0.03,3.04822,16.17,P01116_F156L,F,L,156,FL,F156L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.87,-2.511,0.641,,H,A,0.03,-0.71,,,,0.00472134,0,0.161007,0.847281
2373,Q8WXD0,T,P,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.03,0.004,0.001,0.006,0.002,,0.003,,0.004,37856,25475,ENSG00000133105,ENST00000380314,CCDS53862.1,RXFP2,0.3,possibly_damaging,0.752,tolerated,0.1,3.29831,17.08,Q8WXD0_T222P,T,P,222,TP,T222P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.543,-3.52,1.977,,,,,,2.506,,86.07,0.00123611,0,0.042154,0.912535
2405,P06400,C,R,712,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0,,,,,,,,,159983,18229,ENSG00000139687,ENST00000267163,CCDS31973.1,RB1,0.77,probably_damaging,1,deleterious,0,4.41769,23.4,P06400_C712R,C,R,712,CR,C712R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,0.01,H,A,1.66,-0.63,,,,0.000835876,0,0.0285051,0.515076
2417,Q5TBB1,S,I,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0,,,,,,,,,13246,24,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.51,probably_damaging,0.995,deleterious,0,4.35574,22.9,Q5TBB1_S159I,S,I,159,SI,S159I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-1.239,-3.562,2.323,0.12,.,B,0.75,0.16,,,,0.00372197,0,0.126927,0.627527
2671,P49768,H,Y,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0,,,,,,,,,19030,30300,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.34,benign,0.277,deleterious,0.04,3.8071,19.33,P49768_H159Y,H,Y,159,HY,H159Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.00221634,0,0.0755817,0.976022
2672,P49768,H,R,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0,,,,,,,,,19031,30299,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.34,benign,0.277,deleterious,0,3.11534,16.41,P49768_H159R,H,R,159,HR,H159R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00221634,0,0.0755817,0.988062
4980,Q13873,C,X,169,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.31,0.01,,,,,,,,,136373,53945,ENSG00000204217,ENST00000374574,,BMPR2,0.32,,,,,4.90909,28.3,Q13873_C169X,C,X,169,CX,C169X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000396976,0,0.0135377,0.980504
6007,Q9UBX0,S,L,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.04,0,0,0,,,,,,1693,265,ENSG00000163666,ENST00000473921,,HESX1,0.9,possibly_damaging,0.558,deleterious,0,3.80903,19.34,Q9UBX0_S136L,S,L,136,SL,S136L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00631405,0,0.215322,0.910539
6008,Q9UBX0,R,C,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.04,,,,,,,,,1662,296,ENSG00000163666,ENST00000473921,,HESX1,0.83,probably_damaging,0.997,deleterious,0,3.60166,18.34,Q9UBX0_R126C,R,C,126,RC,R126C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00637227,0,0.217308,0.881563
6310,Q96RQ3,S,F,400,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.03,,,,,,,,,3288,11599,ENSG00000078070,ENST00000539926,,MCCC1,0.94,probably_damaging,0.957,deleterious,0,3.70185,18.8,Q96RQ3_S400F,S,F,400,SF,S400F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.000150596,0,0.00513565,0.970795
6555,Q9NZW4,Y,D,6,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0,,,,,,,,,48,5950,ENSG00000152591,ENST00000282478,CCDS43248.1,DSPP,0,probably_damaging,0.984,,,2.0719,12.88,Q9NZW4_Y6D,Y,D,6,YD,Y6D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.61,-3.847,2.237,,,,,,0.68,,42.04,0.0011811,0,0.0402781,0.800482
6580,O00462,E,X,83,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.31,0,,,,,,,,,4108,661,ENSG00000109323,ENST00000226578,CCDS3658.1,MANBA,0.09,,,,,1.78193,11.92,O00462_E83X,E,X,83,EX,E83X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.0019414,0,0.0662058,0.96137
6659,Q6ZWL3,L,W,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0,,,,,,,,,956,13758,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.33,probably_damaging,1,deleterious,0,3.97079,20.3,Q6ZWL3_L173W,L,W,173,LW,L173W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,-0.972,-4.953,3.981,,,,,,,,,0.00412412,0,0.140641,0.750884
6806,Q13216,A,P,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.01,,,,,,,,,5078,37,ENSG00000049167,ENST00000265038,CCDS3978.1,ERCC8,0.52,probably_damaging,0.906,deleterious,0.01,4.32964,22.7,Q13216_A205P,A,P,205,AP,A205P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.454,-3.572,2.118,,E,B,0.52,-0.57,1.625,,64.65,0.00380494,0,0.129756,0.657083
6809,Q8N183,R,X,47,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.31,0.01,,,,,,,,,22760,79881,ENSG00000164182,ENST00000296597,CCDS3979.1,NDUFAF2,0.28,,,,,5.52939,35,Q8N183_R47X,R,X,47,RX,R47X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0110203,0,0.375813,0.917368
6848,P25054,W,X,157,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.31,0.01,,,,,,,,,37344,63379,ENSG00000134982,ENST00000257430,CCDS4107.1,APC,0.06,,,,,5.96384,36,P25054_W157X,W,X,157,WX,W157X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
7273,P22413,Y,F,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.01,,,,,,,,,3276,12972,ENSG00000197594,ENST00000360971,CCDS5150.2,ENPP1,0.4,probably_damaging,0.918,deleterious,0,4.83767,27.5,P22413_Y371F,Y,F,371,YF,Y371F,Hydrophobic,Hydrophobic,5.66,3.32,-2.34,181,165,-16,193.6,189.9,-3.7,22,-1.096,-2.759,1.663,,,,,,,,,0.000504934,0,0.0172193,0.922688
7654,P13569,N,H,1273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0,,,,,,,,,172780,14197,ENSG00000001626,ENST00000426809,,CFTR,0.88,probably_damaging,1,deleterious,0,3.90655,19.87,P13569_N1273H,N,H,1273,NH,N1273H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,,,,,,,,,,,,0.00162244,0,0.0553287,0.912434
7885,O75881,R,H,417,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.03,0,0,0,,,,,,18902,778,ENSG00000172817,ENST00000310193,CCDS6180.1,CYP7B1,0.82,probably_damaging,1,deleterious,0,5.09795,31,O75881_R417H,R,H,417,RH,R417H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.002,-4.139,3.137,,,,,,,,,,,,0.777057
7923,Q9Y620,D,Y,418,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.04,,,,,,,,,44,6117,ENSG00000197275,ENST00000336148,CCDS6262.1,RAD54B,0.46,probably_damaging,0.967,deleterious,0,4.6853,25.9,Q9Y620_D418Y,D,Y,418,DY,D418Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.189,-4.201,3.012,,,,,,0.972,,60.66,0.00172045,0,0.0586708,0.817832
7933,Q7Z7G8,R,X,971,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.31,0.03,,,,,,,,,109085,40239,ENSG00000132549,ENST00000395996,,VPS13B,0.68,,,,,8.35944,40,Q7Z7G8_R971X,R,X,971,RX,R971X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8591,P00480,K,E,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.01,,,,,,,,,17212,33851,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.23,benign,0.201,deleterious,0.02,3.55801,18.14,P00480_K80E,K,E,80,KE,K80E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.246,-2.528,1.282,0.34,.,B,1.3,0.37,14.35,14.35,75.14,0.003386,0,0.11547,0.884678
9074,P46100,Y,C,2125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.01,,,,,,,,,227547,53778,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.87,probably_damaging,1,,,2.64172,14.79,P46100_Y2125C,Y,C,2125,YC,Y2125C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
9595,P00740,E,V,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.31,0.03,,,,,,,,,30792,515,ENSG00000101981,ENST00000394090,,F9,0.6,probably_damaging,1,deleterious,0.03,3.69407,18.77,P00740_E253V,E,V,253,EV,E253V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,,,,,,,,,,,,0.00117983,0,0.0402346,0.915165
24,Q9HC77,N,S,1102,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.32,0.03,0,0,0,0.001,,,,0.001,413,377,ENSG00000151849,ENST00000381884,CCDS9310.1,CENPJ,0.82,benign,0.078,tolerated,0.15,-0.114899,3.437,Q9HC77_N1102S,N,S,1102,NS,N1102S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.928,-2.494,0.566,,,,,,17.094,17.094,35.28,0.00128112,0,0.0506655,0.965673
26,Q9HC77,Q,P,893,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.32,0,,,,,,,,,17477,22320,ENSG00000151849,ENST00000381884,CCDS9310.1,CENPJ,0.67,benign,0.288,deleterious,0.01,1.59956,11.31,Q9HC77_Q893P,Q,P,893,QP,Q893P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.5,-3.004,1.504,,,,,,31.873,31.873,75.64,0.00033049,0,0.0130701,0.964165
132,Q15858,L,V,201,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.32,0.01,,,,,,,,,1596,1706,ENSG00000169432,ENST00000409435,,SCN9A,0.1,benign,0.002,tolerated,1,-0.724591,0.894,Q15858_L201V,L,V,201,LV,L201V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.751,-1.376,-0.375,,,,,,25.122,25.122,92.96,,,,1.00774
133,Q15858,N,D,206,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.32,0.01,,,,,,,,,1611,1691,ENSG00000169432,ENST00000409435,,SCN9A,0.1,benign,0.002,tolerated,1,0.617164,7.322,Q15858_N206D,N,D,206,ND,N206D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.721,-1.491,-0.23,,,,,,37.018,37.018,92.96,,,,1.00568
138,Q15468,Q,H,421,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.32,0,,,,,,,,,138,11560,ENSG00000123473,ENST00000337817,CCDS548.1,STIL,0.33,benign,0.019,tolerated,1,-0.48236,1.779,Q15468_Q421H,Q,H,421,QH,Q421H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-2.142,-2.279,0.137,,,,,,21.016,21.016,74.28,0.000380109,0,0.0150325,1.02496
139,Q15468,Q,P,421,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.32,0,,,,,,,,,139,11561,ENSG00000123473,ENST00000337817,CCDS548.1,STIL,0.33,possibly_damaging,0.815,tolerated,0.19,2.68502,14.94,Q15468_Q421P,Q,P,421,QP,Q421P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-2.142,-4.112,1.97,,,,,,1.944,,74.28,0.000380109,0,0.0150325,0.901625
223,P25054,V,D,1822,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.32,0,0.826,0.946,0.765,0.86,0.9,0.82,0.99,0.77,13846,1697,ENSG00000134982,ENST00000257430,CCDS4107.1,APC,0.64,benign,0,tolerated,1,-1.20658,0.069,P25054_V1822D,V,D,1822,VD,V1822D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-2.488,-1.71,-0.778,,,,,,37.216,37.216,92.4,,,,1.00071
250,P23786,Y,C,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,,,,,,,,,3743,424,ENSG00000157184,ENST00000371486,CCDS575.1,CPT2,0.18,probably_damaging,0.993,deleterious,0,3.67043,18.65,P23786_Y120C,Y,C,120,YC,Y120C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,0.083,H,A,0.25,-0.65,,,,0.000616882,0,0.0210369,0.565563
276,Q9Y672,A,V,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,0,0,0,,,,,,15,9747,ENSG00000088035,ENST00000263440,,ALG6,0.66,probably_damaging,0.991,deleterious,0.01,4.66875,25.7,Q9Y672_A335V,A,V,335,AV,A335V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,,,,0.954618
332,P11182,S,X,194,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0,,,,,,,,,33647,5631,ENSG00000137992,ENST00000370131,,DBT,0.61,,,,,4.22762,22,P11182_S194X,S,X,194,SX,S194X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00324065,0,0.110513,0.953542
333,P11182,I,M,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,18949,20329,ENSG00000137992,ENST00000370131,,DBT,0.31,probably_damaging,0.995,deleterious,0,3.61994,18.42,P11182_I98M,I,M,98,IM,I98M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.313,-3.807,2.494,,,,,,,,,0.00403923,0,0.137746,0.812396
630,P08603,R,L,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,,,,,,,,,971,25546,ENSG00000000971,ENST00000359637,,CFH,0.33,probably_damaging,0.999,deleterious,0.02,4.28741,22.4,P08603_R127L,R,L,127,RL,R127L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.189,-3.347,2.158,,,,,-0.9,1.607,,57.11,0.000353718,0,0.0120625,0.597643
655,Q8IZT6,R,X,1599,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.04,,,,,,,,,30689,20324,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.46,,,,,7.58008,39,Q8IZT6_R1599X,R,X,1599,RX,R1599X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
670,Q8IZT6,E,X,456,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.03,,,,,,,,,3809,58758,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.13,,,,,4.78223,26.9,Q8IZT6_E456X,E,X,456,EX,E456X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
674,P82279,K,X,689,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.03,0,0,0,,,,,,4912,14,ENSG00000134376,ENST00000367399,CCDS53454.1,CRB1,0.53,,,,,1.89257,12.29,P82279_K689X,K,X,689,KX,K689X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
717,O75445,L,X,260,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0,,,,,,,,,58439,191012,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.17,,,,,6.67429,38,O75445_L260X,L,X,260,LX,L260X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
779,Q99707,H,D,474,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0,,,,,,,,,49586,12933,ENSG00000116984,ENST00000366576,,MTR,0.58,probably_damaging,0.971,deleterious,0,4.43518,23.6,Q99707_H474D,H,D,474,HD,H474D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,,,,,,,,,,,,0.000958748,0,0.0326953,0.923999
879,Q6ZVD7,Y,H,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,0.572,0.416,0.642,0.63,0.9,0.55,0.35,0.65,54297,10956,ENSG00000165730,ENST00000399162,CCDS44416.1,STOX1,0.91,benign,0.325,tolerated,0.34,1.91996,12.38,Q6ZVD7_Y153H,Y,H,153,YH,Y153H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.255,-2.159,0.904,,,,,,22.373,22.373,63.2,0.000538872,0,0.0183766,0.965301
968,Q9UNW1,Q,R,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,674,44882,ENSG00000107789,ENST00000371996,CCDS7384.1,MINPP1,0.55,benign,0.108,tolerated,0.42,0.922183,8.755,Q9UNW1_Q270R,Q,R,270,QR,Q270R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.954,-2.542,0.588,,,,,,10.809,10.809,90.76,0.00252094,0,0.0859693,1.00985
990,P25445,Y,C,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,22694,41,ENSG00000026103,ENST00000357339,CCDS7394.1,FAS,0.67,probably_damaging,0.999,deleterious,0,2.47851,14.25,P25445_Y211C,Y,C,211,YC,Y211C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.0048263,0,0.164587,0.913247
1006,O95970,I,K,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,7,68,ENSG00000108231,ENST00000371413,,LGI1,0.42,probably_damaging,0.999,deleterious,0,4.7674,26.7,O95970_I122K,I,K,122,IK,I122K,Hydrophobic,PositiveCharge,6.02,9.74,3.72,131,146,15,166.7,168.6,1.9,102,-1.436,-3.642,2.206,,,,,,,,,,,,0.778144
1103,P04181,G,A,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,,,,,,,,,2462,857,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.79,probably_damaging,0.999,deleterious,0,4.47201,23.9,P04181_G237A,G,A,237,GA,G237A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.921,-2.588,1.667,0.011,T,g,0.29,-0.46,,,,0.000323524,0,0.0110328,0.771488
1260,P01270,S,P,23,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,,,,,,,,,3232,690,ENSG00000152266,ENST00000282091,CCDS7812.1,PTH,0.2,benign,0.095,tolerated,0.1,1.80905,12.01,P01270_S23P,S,P,23,SP,S23P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.854,-3.748,1.894,,,,,,2.072,,80.87,0.0121402,0,0.414007,0.886791
1720,Q8NCM8,R,H,2205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,,,,,,,,,75457,294221,ENSG00000187240,ENST00000398093,CCDS44717.1,DYNC2H1,0.51,probably_damaging,0.993,deleterious,0,4.47119,23.9,Q8NCM8_R2205H,R,H,2205,RH,R2205H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,,,,0.778646
1721,Q8NCM8,G,V,2461,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,80186,289492,ENSG00000187240,ENST00000398093,CCDS44717.1,DYNC2H1,0.57,benign,0.033,tolerated,0.06,2.74789,15.15,Q8NCM8_G2461V,G,V,2461,GV,G2461V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.321,-3.354,2.033,,,,,,4.408,,64.55,,,,0.833322
1730,P24752,Q,X,272,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,1663,2259,ENSG00000075239,ENST00000265838,CCDS8339.1,ACAT1,0.64,,,,,6.14578,37,P24752_Q272X,Q,X,272,QX,Q272X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00489983,0,0.167094,0.940312
1738,Q13315,Y,C,2677,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,2211,1166,ENSG00000149311,ENST00000452508,CCDS31669.1,ATM,0.88,probably_damaging,1,deleterious,0,4.22452,22,Q13315_Y2677C,Y,C,2677,YC,Y2677C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,,,,,,,,,,,,0.720434
1997,Q5S007,I,V,1122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0,,,,,,,,,659,5852,ENSG00000188906,ENST00000343742,,LRRK2,0.88,benign,0.001,tolerated,0.14,-0.289755,2.616,Q5S007_I1122V,I,V,1122,IV,I1122V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.906,-2.764,0.858,,,,,,8.821,,92.05,,,,0.948669
2172,Q8TAM1,S,A,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0,,,,,,,,,1343,422,ENSG00000179941,ENST00000393262,CCDS9014.2,BBS10,0.43,possibly_damaging,0.55,deleterious,0.01,2.99748,16,Q8TAM1_S311A,S,A,311,SA,S311A,Polar,Hydrophobic,5.68,6,0.32,105,89,-16,89,88.6,-0.4,99,-1.139,-2.584,1.445,,,,,,4.86,,66.53,0.00048449,0,0.0165221,0.950433
2393,Q9P2R7,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.32,0.03,,,,,,,,,12436,270,ENSG00000136143,ENST00000378645,,SUCLA2,,,,,,4.08909,21,Q9P2R7_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
2399,P43657,I,F,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,628,121,ENSG00000139679,ENST00000345941,CCDS9410.1,LPAR6,0.55,probably_damaging,0.99,deleterious,0.02,3.65945,18.6,P43657_I188F,I,F,188,IF,I188F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.607,-3.35,1.743,,,,,,11.643,,88.66,0.00345184,0,0.117715,0.970963
2410,Q5TBB1,Q,X,58,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0,,,,,,,,,605,13874,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.19,,,,,8.3478,40,Q5TBB1_Q58X,Q,X,58,QX,Q58X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00467062,0,0.159278,0.93904
2424,Q5TBB1,Y,H,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,19663,5961,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.7,probably_damaging,1,deleterious,0.01,4.22807,22,Q5TBB1_Y219H,Y,H,219,YH,Y219H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.096,-3.597,2.501,0.033,T,A,0.38,0.27,,,,0.00239894,0,0.0818088,0.691168
2452,P24530,R,X,201,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,0,0,0,,,,,,15455,7867,ENSG00000136160,ENST00000446573,CCDS45059.1,EDNRB,0.46,,,,,6.58817,37,P24530_R201X,R,X,201,RX,R201X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00265371,0,0.0904971,0.951177
2598,Q8IYD8,S,X,698,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0,,,,,,,,,18306,26964,ENSG00000187790,ENST00000542564,,FANCM,0.35,,,,,5.52827,35,Q8IYD8_S698X,S,X,698,SX,S698X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
2673,P49768,L,M,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0,,,,,,,,,19063,30267,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.37,probably_damaging,0.996,deleterious,0,4.10345,21.1,P49768_L170M,L,M,170,LM,L170M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,,,,,,,,,,,,0.0027477,0,0.0937021,0.979184
2759,Q9UPY3,R,X,944,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.03,,,,,,,,,39,118,ENSG00000100697,ENST00000343455,CCDS9931.1,DICER1,0.49,,,,,10.6478,44,Q9UPY3_R944X,R,X,944,RX,R944X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3264,Q86YC2,Q,X,343,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0,,,,,,,,,2417,517,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.29,,,,,3.18134,16.65,Q86YC2_Q343X,Q,X,343,QX,Q343X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000593954,0,0.0202551,0.98231
3316,Q68CZ1,Q,X,253,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,17393,14901,ENSG00000103494,ENST00000562230,,RPGRIP1L,0.71,,,,,5.82458,36,Q68CZ1_Q253X,Q,X,253,QX,Q253X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000581613,0,0.0198342,0.98231
3387,#N/A,R,X,201,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.03,,,,,,,,,39771,25613,ENSG00000127688,ENST00000248272,CCDS10935.1,GAN,0.34,,,,,7.29034,39,#N/A_R201X,R,X,201,RX,R201X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3588,P21359,Y,C,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0,0,0,0,,,,,,13988,4836,ENSG00000196712,ENST00000456735,,NF1,0.06,benign,0.01,tolerated,0.17,2.04036,12.78,P21359_Y155C,Y,C,155,YC,Y155C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
4113,P22830,V,G,362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,35288,1857,ENSG00000066926,ENST00000262093,CCDS11964.1,FECH,0.86,possibly_damaging,0.741,tolerated,0.21,3.2249,16.81,P22830_V362G,V,G,362,VG,V362G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.709,-3.307,1.598,0.233,.,B,0.73,1.22,7.021,,89.6,0.00472159,0,0.161016,0.91065
4788,O15259,L,X,27,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,3478,22730,ENSG00000144061,ENST00000445609,CCDS46386.1,NPHP1,0.04,,,,,4.70519,26.1,O15259_L27X,L,X,27,LX,L27X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
4845,Q9H3L0,T,N,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0,,,,,,,,,11828,5910,ENSG00000168288,ENST00000422782,,MMADHC,0.55,benign,0.398,deleterious,0.05,3.31626,17.15,Q9H3L0_T182N,T,N,182,TN,T182N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,-1.309,-2.055,0.746,,,,,,20.865,20.865,65.88,0.00735744,0,0.250904,0.940704
4849,P43304,F,S,635,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,26,3901,ENSG00000115159,ENST00000310454,CCDS2202.1,GPD2,0.87,possibly_damaging,0.5,deleterious,0.01,4.60557,25.1,P43304_F635S,F,S,635,FS,F635S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.517,-3.422,1.905,,,,,,1.641,,66.85,0.00283246,0,0.0965927,0.899339
4853,Q99250,R,W,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,0,0,0,,,,,,85,1995,ENSG00000136531,ENST00000283256,CCDS33314.1,SCN2A,0.09,probably_damaging,1,deleterious,0,3.31841,17.16,Q99250_R188W,R,W,188,RW,R188W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,,,,0.764378
4983,Q13873,R,X,332,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,153386,36932,ENSG00000204217,ENST00000374574,,BMPR2,0.63,,,,,5.64702,36,Q13873_R332X,R,X,332,RX,R332X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000242307,0,0.00826316,0.977351
4994,Q9NYY8,R,X,432,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,8617,17543,ENSG00000118246,ENST00000402774,CCDS2371.1,FASTKD2,0.61,,,,,6.35206,37,Q9NYY8_R432X,R,X,432,RX,R432X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6264,Q99574,G,R,392,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,,,,,,,,,2328,297,ENSG00000163536,ENST00000446050,CCDS3203.1,SERPINI1,0.96,probably_damaging,1,deleterious,0,4.3549,22.9,Q99574_G392R,G,R,392,GR,G392R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,E,b,0.91,-0.52,,,,0.0044214,0,0.150779,0.485245
6265,Q99574,G,E,392,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,,,,,,,,,2329,296,ENSG00000163536,ENST00000446050,CCDS3203.1,SERPINI1,0.96,probably_damaging,1,deleterious,0,4.29356,22.5,Q99574_G392E,G,E,392,GE,G392E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,E,b,0.75,-0.52,,,,0.0044214,0,0.150779,0.515157
6495,P29973,K,X,212,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.03,,,,,,,,,9487,43,ENSG00000198515,ENST00000402813,CCDS47050.1,CNGA1,0.28,,,,,4.03332,20.7,P29973_K212X,K,X,212,KX,K212X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00207254,0,0.070678,0.963541
6531,P02768,Q,X,56,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0,,,,,,,,,2349,2163,ENSG00000163631,ENST00000509063,,ALB,0.09,,,,,2.40617,14,P02768_Q56X,Q,X,56,QX,Q56X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00143319,0,0.0488749,0.904853
6548,P58335,E,X,220,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0,,,,,,,,,35610,11358,ENSG00000163297,ENST00000295465,,ANTXR2,0.68,,,,,10.3802,43,P58335_E220X,E,X,220,EX,E220X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00174131,0,0.0593822,0.914073
6550,P58335,G,D,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,15625,1715,ENSG00000163297,ENST00000295465,,ANTXR2,0.33,probably_damaging,0.998,deleterious,0.01,4.72401,26.3,P58335_G105D,G,D,105,GD,G105D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,0.023,H,A,0.46,-0.63,,,,0.00222178,0,0.0757673,0.605054
6604,Q8NHS3,Y,X,253,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,34356,81,ENSG00000164073,ENST00000513559,,MFSD8,0.53,,,,,1.7902,11.95,Q8NHS3_Y253X,Y,X,253,YX,Y253X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00285767,0,0.0974524,0.945391
6618,P08235,C,X,645,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.03,,,,,,,,,6308,54,ENSG00000151623,ENST00000358102,CCDS3772.1,NR3C2,0.66,,,,,8.85365,41,P08235_C645X,C,X,645,CX,C645X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000656876,0,0.0224008,0.980504
6718,Q9UBK8,S,L,454,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,,,,,,,,,36,17,ENSG00000124275,ENST00000440940,CCDS47190.1,MTRR,0.65,probably_damaging,1,deleterious,0,4.87376,27.9,Q9UBK8_S454L,S,L,454,SL,S454L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00188736,0,0.0643627,0.957374
6749,Q6KC79,R,X,1536,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,137938,49463,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.57,,,,,12.8663,46,Q6KC79_R1536X,R,X,1536,RX,R1536X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6754,Q6KC79,R,G,1856,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.04,,,,,,,,,145592,41809,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.69,probably_damaging,1,deleterious,0,3.56344,18.17,Q6KC79_R1856G,R,G,1856,RG,R1856G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-0.863,-3.358,2.495,,,,,,,,,,,,0.728489
6762,Q99650,I,T,691,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,79232,10411,ENSG00000145623,ENST00000274276,CCDS3928.1,OSMR,0.71,probably_damaging,0.928,deleterious,0,2.01351,12.69,Q99650_I691T,I,T,691,IT,I691T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.215,-3.292,2.077,,,,,,2.815,,56.38,0.000960032,0,0.0327391,0.886526
6770,P55809,C,F,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,44557,23,ENSG00000083720,ENST00000509987,,OXCT1,0.81,probably_damaging,0.999,deleterious,0,4.42991,23.6,P55809_C270F,C,F,270,CF,C270F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,,,,0.932606
6932,P04150,L,F,753,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,118889,153,ENSG00000113580,ENST00000394464,CCDS4278.1,NR3C1,0.97,probably_damaging,1,deleterious,0,2.93626,15.79,P04150_L753F,L,F,753,LF,L753F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.232,-3.457,2.225,0.022,H,A,0.03,-0.01,0.938,,19.69,0.00733227,0,0.250045,0.708663
6935,P04150,G,S,679,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,118139,903,ENSG00000113580,ENST00000394464,CCDS4278.1,NR3C1,0.87,probably_damaging,1,deleterious,0,5.57284,35,P04150_G679S,G,S,679,GS,G679S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,0.218,.,P,0.02,1.22,,,,0.00300543,0,0.102491,0.750975
7098,P51580,R,H,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,0.009,0.025,0.001,0.004,,0.003,0.01,,24313,2451,ENSG00000137364,ENST00000309983,CCDS4543.1,TPMT,0.88,benign,0,tolerated,0.49,-0.618436,1.251,P51580_R215H,R,H,215,RH,R215H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.626,-2.314,-0.312,0.551,E,B,1.03,-0.09,32.947,32.947,93.06,0.0108245,0,0.369139,1.00396
7175,Q13093,V,F,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,0.03,0.11,,,,25979,304,ENSG00000146070,ENST00000537365,CCDS4917.1,PLA2G7,0.63,probably_damaging,0.998,deleterious,0.01,4.536,24.5,Q13093_V279F,V,F,279,VF,V279F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.321,-3.881,2.56,,H,A,0.14,-0.91,1.41,,67.57,0.00387736,0,0.132226,0.590054
7335,P54278,C,X,73,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,4,281,ENSG00000122512,ENST00000265849,CCDS5343.1,PMS2,0.08,,,,,6.06511,37,P54278_C73X,C,X,73,CX,C73X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000561295,0,0.0191413,0.980504
7349,Q9BYI3,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.32,0.01,,,,,,,,,36735,571,ENSG00000122591,ENST00000440481,,FAM126A,,,,,,4.88639,28.1,Q9BYI3_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7350,Q8IXQ5,S,N,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,22864,10,ENSG00000122550,ENST00000409689,CCDS5378.2,KLHL7,0.19,benign,0.385,deleterious,0.01,2.95971,15.87,Q8IXQ5_S102N,S,N,102,SN,S102N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,0.00115357,0,0.0393392,0.928016
7351,Q8IXQ5,A,T,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,22872,2,ENSG00000122550,ENST00000409689,CCDS5378.2,KLHL7,0.2,possibly_damaging,0.886,deleterious,0,4.77703,26.8,Q8IXQ5_A105T,A,T,105,AT,A105T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.307,-2.878,1.571,,,,,,,,,0.00113011,0,0.038539,0.851042
7352,Q8IXQ5,A,V,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,22873,1,ENSG00000122550,ENST00000409689,CCDS5378.2,KLHL7,0.2,possibly_damaging,0.716,deleterious,0,4.49976,24.2,Q8IXQ5_A105V,A,V,105,AV,A105V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.307,-2.76,1.453,,,,,,,,,0.00113011,0,0.038539,0.853089
7370,Q9H0P0,N,S,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.05,,,,,,,,,1402,257,ENSG00000122643,ENST00000405342,CCDS34617.1,NT5C3,0.64,probably_damaging,0.996,deleterious,0,4.61159,25.2,Q9H0P0_N190S,N,S,190,NS,N190S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00584638,0,0.199374,0.945567
7373,Q9H0P0,D,V,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,5717,510,ENSG00000122643,ENST00000405342,CCDS34617.1,NT5C3,0.33,probably_damaging,0.998,deleterious,0,4.60865,25.2,Q9H0P0_D98V,D,V,98,DV,D98V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.0047244,0,0.161112,0.939232
7546,O43511,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.32,0.01,,,,,,,,,22818,34357,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,,,,,,3.86255,19.62,O43511_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7583,P13569,G,E,4,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,0,0,0,,,,,,29028,21856,ENSG00000001626,ENST00000446805,,CFTR,0.11,probably_damaging,0.978,deleterious,0,4.32214,22.7,P13569_G4E,G,E,4,GE,G4E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.000734101,0.000677507,0.0250343,0.976396
7655,P13569,N,K,1273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0,0,0,0,0.001,,,,0.001,172782,14195,ENSG00000001626,ENST00000426809,,CFTR,0.88,probably_damaging,1,deleterious,0,3.25667,16.92,P13569_N1273K,N,K,1273,NK,N1273K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.00162244,0,0.0553287,0.907717
7773,Q13510,E,V,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,416,1318,ENSG00000104763,ENST00000314146,CCDS47813.1,ASAH1,0.34,probably_damaging,0.997,deleterious,0,4.01152,20.6,Q13510_E132V,E,V,132,EV,E132V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,,,,,,,,,,,,0.00341357,0,0.11641,0.957981
7874,P56715,Q,X,679,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,9850,4918,ENSG00000104237,ENST00000220676,CCDS6160.1,RP1,0.31,,,,,4.09436,21.1,P56715_Q679X,Q,X,679,QX,Q679X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7895,Q99502,E,K,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,54453,29161,ENSG00000104313,ENST00000388741,,EYA1,0.59,probably_damaging,0.998,deleterious,0,5.6109,36,Q99502_E329K,E,K,329,EK,E329K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.000157764,0,0.00538008,0.991489
7921,Q5HYA8,Q,P,273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,12937,6,ENSG00000164953,ENST00000452276,,TMEM67,0.69,probably_damaging,0.984,deleterious,0.01,4.10908,21.2,Q5HYA8_Q273P,Q,P,273,QP,Q273P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,,,,,,,,,,,,,,,0.952768
7934,Q7Z7G8,E,X,1491,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,498009,66511,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.37,,,,,11.0493,44,Q7Z7G8_E1491X,E,X,1491,EX,E1491X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8043,Q7Z2E3,V,G,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0,,,,,,,,,15354,1137,ENSG00000137074,ENST00000379813,CCDS47956.1,APTX,0.77,probably_damaging,0.998,deleterious,0,4.29058,22.4,Q7Z2E3_V263G,V,G,263,VG,V263G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,,,,,,,,,,,,0.00302683,0,0.103221,0.93939
8177,P23025,Y,X,116,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,7719,4614,ENSG00000136936,ENST00000375128,CCDS6729.1,XPA,0.42,,,,,4.13474,21.3,P23025_Y116X,Y,X,116,YX,Y116X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00776613,0,0.264841,0.906013
8178,P23025,C,F,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,7694,4639,ENSG00000136936,ENST00000375128,CCDS6729.1,XPA,0.4,probably_damaging,1,deleterious,0,4.39942,23.3,P23025_C108F,C,F,108,CF,C108F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.293,-3.844,2.551,0.543,S,A,0.12,0,,,,0.00173525,0,0.0591757,0.707489
8434,P51812,R,W,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.05,,,,,,,,,23731,939,ENSG00000177189,ENST00000379548,,RPS6KA3,0.12,probably_damaging,0.975,deleterious,0,4.15683,21.5,P51812_R85W,R,W,85,RW,R85W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000504593,0,0.0172077,0.987856
8593,P00480,L,X,82,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,17219,33844,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.23,,,,,6.73772,38,P00480_L82X,L,X,82,LX,L82X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.00439894,0,0.150013,0.942431
8594,P00480,G,R,83,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,17221,33842,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.23,possibly_damaging,0.59,deleterious,0,3.60107,18.33,P00480_G83R,G,R,83,GR,G83R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.443,-4.129,2.686,0.034,E,B,0.91,-0.44,3.344,,92.66,0.00481819,0.00369004,0.16431,0.669564
8595,P00480,G,D,83,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,17222,33841,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.23,possibly_damaging,0.871,deleterious,0,4.26511,22.3,P00480_G83D,G,D,83,GD,G83D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.443,-3.89,2.447,0.034,E,B,0.46,-0.44,4.138,,92.66,0.00481819,0.00369004,0.16431,0.707786
8614,P00480,A,E,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,28743,22320,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.29,possibly_damaging,0.731,tolerated,0.09,4.16447,21.5,P00480_A102E,A,E,102,AE,A102E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-2.176,-3.166,0.99,0.447,H,A,1.04,-0.73,16.615,16.615,77.12,0.00612226,0,0.208782,0.903537
8735,P00480,P,T,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,7388,3139,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.64,possibly_damaging,0.801,tolerated,0.41,1.72779,11.74,P00480_P225T,P,T,225,PT,P225T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.641,-3.361,1.72,0.068,.,b,0.3,0.46,14.31,14.31,69.49,0.00514309,0,0.17539,0.836098
8871,P51508,S,N,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,78212,7030,ENSG00000197779,ENST00000338637,CCDS43933.1,ZNF81,0.27,benign,0.001,tolerated,0.8,-2.16566,0.005,P51508_S179N,S,N,179,SN,S179N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.966,-2.472,0.506,,,,,,26.497,26.497,88.8,0.00195432,0,0.0666463,1.01271
9085,P46100,H,R,1571,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.04,,,,,,,,,2364,730,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.64,probably_damaging,0.998,,,3.16952,16.6,P46100_H1571R,H,R,1571,HR,H1571R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,,,,0.960944
9088,P46100,C,Y,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,101269,180056,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.07,probably_damaging,0.999,,,3.25443,16.92,P46100_C182Y,C,Y,182,CY,C182Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,,,,0.933113
9499,Q6ZUT3,R,G,229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.01,,,,,,,,,9718,6674,ENSG00000165694,ENST00000298542,CCDS35397.1,FRMD7,0.32,probably_damaging,0.999,deleterious,0,3.90459,19.85,Q6ZUT3_R229G,R,G,229,RG,R229G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.184,-3.175,1.991,,,,,,,,,0.000539305,0,0.0183914,0.814781
9504,P51654,R,X,117,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.32,0.01,,,,,,,,,53800,103536,ENSG00000147257,ENST00000406757,,GPC3,0.46,,,,,5.14077,32,P51654_R117X,R,X,117,RX,R117X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9515,P00492,L,P,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0,,,,,,,,,79,25189,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.19,probably_damaging,0.998,deleterious,0,3.83558,19.48,P00492_L41P,L,P,41,LP,L41P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.467,-3.785,2.318,0.029,H,A,1.07,-1.24,1.582,,92.66,0.00792116,0,0.270128,0.580187
9597,P00740,R,Q,256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.32,0.03,,,,,,,,,30801,506,ENSG00000101981,ENST00000394090,,F9,0.61,probably_damaging,0.973,tolerated,0.15,3.00602,16.03,P00740_R256Q,R,Q,256,RQ,R256Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00341871,0,0.116585,0.968556
87,Q93100,Y,C,770,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.33,0.01,0.08,0.152,0.044,0.06,0.01,0.05,0.16,0.04,3004,684,ENSG00000102893,ENST00000299167,,PHKB,0.7,possibly_damaging,0.471,tolerated,0.05,3.99219,20.4,Q93100_Y770C,Y,C,770,YC,Y770C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.184,-3.074,1.89,,,,,,23.081,23.081,89.66,0.000704882,0,0.0278765,0.924064
100,Q8TDI8,E,K,81,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.33,0,0.2,0.263,0.169,0.28,0.41,0.27,0.29,0.17,51873,135540,ENSG00000165091,ENST00000297784,CCDS6643.1,TMC1,0.11,benign,0.006,tolerated,0.23,3.0649,16.23,Q8TDI8_E81K,E,K,81,EK,E81K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.514,-2.94,1.426,,,,,,4.026,,88.29,0.000146107,0,0.00577821,0.976186
192,P48357,K,R,109,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.33,0.01,0.233,0.173,0.264,0.39,0.81,0.27,0.13,0.29,792,895,ENSG00000116678,ENST00000349533,CCDS631.1,LEPR,0.09,benign,0.025,tolerated,0.28,1.79266,11.95,P48357_K109R,K,R,109,KR,K109R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.513,-1.81,0.297,,,,,,28.262,28.262,63.69,0.00039788,0,0.0157353,1.0221
302,P07686,A,T,318,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.33,0.01,0,0,0,,,,,,74,74,ENSG00000049860,ENST00000511181,,HEXB,0.96,possibly_damaging,0.865,deleterious,0,5.35336,34,P07686_A318T,A,T,318,AT,A318T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00323995,0,0.128133,0.968401
335,P12107,G,V,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,152,3196,ENSG00000060718,ENST00000512756,CCDS780.2,COL11A1,0.3,probably_damaging,0.999,deleterious,0,4.73891,26.4,P12107_G509V,G,V,509,GV,G509V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,,,,0.944066
675,P82279,E,X,476,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0,,,,,,,,,21017,9974,ENSG00000134376,ENST00000544212,,CRB1,0.54,,,,,7.29918,39,P82279_E476X,E,X,476,EX,E476X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
719,Q14739,P,R,569,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.04,,,,,,,,,1121,355,ENSG00000143815,ENST00000338179,CCDS1545.1,LBR,0.93,probably_damaging,0.999,deleterious,0,4.98108,29.1,Q14739_P569R,P,R,569,PR,P569R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.906,-3.789,2.883,,,,,,,,,0.00577918,0,0.197082,0.734765
829,Q96GX5,E,D,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.03,,,,,,,,,5760,25790,ENSG00000120539,ENST00000375946,CCDS7153.1,MASTL,0.19,benign,0.334,deleterious,0.02,3.24847,16.89,Q96GX5_E167D,E,D,167,ED,E167D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.647,-3.19,1.543,,,,,,2.851,,80.77,0.000534733,0,0.0182355,0.975962
852,Q03468,L,P,357,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,804,1819,ENSG00000225830,ENST00000542458,,ERCC6,0.41,probably_damaging,0.98,deleterious,0,4.58342,24.9,Q03468_L357P,L,P,357,LP,L357P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
972,P60484,M,R,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,29581,278,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.09,probably_damaging,0.998,deleterious,0,4.51012,24.2,P60484_M35R,M,R,35,MR,M35R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.998,-3.39,1.392,,,,,,,,,0.00146242,0,0.0498716,0.842368
991,P25445,T,P,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,22720,15,ENSG00000026103,ENST00000357339,CCDS7394.1,FAS,0.7,possibly_damaging,0.882,deleterious,0.03,3.25247,16.91,P25445_T220P,T,P,220,TP,T220P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.00520892,0.00869565,0.177635,0.954098
1204,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.33,0,,,,,,,,,952,217,,ENSR00000317286,,,,,,,,0.26662,5.442,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1261,P01270,C,R,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,3217,705,ENSG00000152266,ENST00000282091,CCDS7812.1,PTH,0.16,possibly_damaging,0.533,deleterious,0.05,2.84417,15.47,P01270_C18R,C,R,18,CR,C18R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.611,-4.07,2.459,,,,,,2.221,,81.74,0.0110274,0,0.376057,0.8077
1729,P24752,G,R,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,41,156,ENSG00000075239,ENST00000265838,CCDS8339.1,ACAT1,0.43,probably_damaging,1,deleterious,0,3.70417,18.82,P24752_G183R,G,R,183,GR,G183R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,I,A,0.91,-0.38,,,,0.000359001,0,0.0122427,0.553744
1760,Q03393,N,D,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,,,,,,376,856,ENSG00000150787,ENST00000280362,CCDS8359.1,PTS,0.32,probably_damaging,0.915,deleterious,0.01,4.27498,22.3,Q03393_N47D,N,D,47,ND,N47D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.462,-3.083,1.621,0.981,T,A,0.14,-0.26,3.087,,84.83,0.00796595,0,0.271655,0.94619
1986,Q96M96,R,X,27,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.01,,,,,,,,,2884,23294,ENSG00000139132,ENST00000381025,,FGD4,0.1,,,,,6.22667,37,Q96M96_R27X,R,X,27,RX,R27X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2189,P42166,R,C,690,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,0.001,0.001,0,0.01,0.01,0.06,0.004,,6439,1310,ENSG00000120802,ENST00000266732,CCDS9064.1,TMPO,0.99,probably_damaging,0.953,deleterious,0,2.6782,14.92,P42166_R690C,R,C,690,RC,R690C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.783,-2.699,0.916,0.825,.,?,1.66,1.93,39.068,39.068,83.72,0.115896,0.25,3.95228,0.939543
2396,P06400,R,X,358,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.01,,,,,,,,,64774,113438,ENSG00000139687,ENST00000267163,CCDS31973.1,RB1,0.39,,,,,4.48462,24,P06400_R358X,R,X,358,RX,R358X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000847399,0,0.0288981,0.977351
2398,P43657,E,K,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,631,118,ENSG00000139679,ENST00000345941,CCDS9410.1,LPAR6,0.55,probably_damaging,1,deleterious,0.01,4.79248,27,P43657_E189K,E,K,189,EK,E189K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.336,-2.998,1.662,,,,,,3.036,,88.66,0.0033196,0,0.113205,0.964519
2402,P06400,S,L,567,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,8169,3311,ENSG00000139687,ENST00000267163,CCDS31973.1,RB1,0.61,probably_damaging,1,deleterious,0,5.09375,31,P06400_S567L,S,L,567,SL,S567L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.389,-3.258,1.869,0.016,.,B,0.82,-1.3,1.942,,52.91,0.00039692,0,0.0135358,0.63468
2418,Q5TBB1,K,T,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,,,,,,13255,15,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.52,probably_damaging,0.997,deleterious,0,4.23834,22.1,Q5TBB1_K162T,K,T,162,KT,K162T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.166,-3.198,2.032,0.396,H,A,2.12,0.93,,,,0.00370295,0,0.126278,0.779344
2419,Q5TBB1,T,I,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,,,,,,13258,12,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.52,probably_damaging,0.989,deleterious,0,4.32126,22.7,Q5TBB1_T163I,T,I,163,TI,T163I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.149,-3.337,2.188,,H,A,0.7,0.39,,,,0.00436772,0,0.148948,0.697199
2450,O75503,E,X,352,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0,,,,,,,,,10139,763,ENSG00000102805,ENST00000377453,CCDS9456.1,CLN5,0.86,,,,,14.5672,48,O75503_E352X,E,X,352,EX,E352X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
3865,O94972,C,S,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,,,,,,22415,4247,ENSG00000108395,ENST00000393065,,TRIM37,0.08,probably_damaging,1,deleterious,0.01,4.87582,27.9,O94972_C75S,C,S,75,CS,C75S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,,,,,,,,,,,,,,,0.945714
4729,Q8TCU4,Q,X,2751,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.01,,,,,,,,,37614,83242,ENSG00000116127,ENST00000409009,,ALMS1,0.67,,,,,15.4904,49,Q8TCU4_Q2751X,Q,X,2751,QX,Q2751X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
4839,O60315,S,X,828,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0,,,,,,,,,31395,449,ENSG00000169554,ENST00000539609,CCDS54403.1,ZEB2,0.7,,,,,7.42671,39,O60315_S828X,S,X,828,SX,S828X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000721739,0,0.0246128,0.980409
4870,P35498,Q,K,1489,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,,,,,,2015,77,ENSG00000144285,ENST00000423058,,SCN1A,0.74,possibly_damaging,0.576,deleterious,0,4.79989,27.1,P35498_Q1489K,Q,K,1489,QK,Q1489K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,-1.358,-2.784,1.426,,,,,,,,,4.83e-05,0,0.00164634,0.930217
4876,P35498,D,V,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.04,,,,,,,,,18945,63432,ENSG00000144285,ENST00000423058,,SCN1A,0.09,possibly_damaging,0.435,deleterious,0.01,4.25538,22.2,P35498_D188V,D,V,188,DV,D188V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.057,-3.531,2.474,,,,,,,,,8.02e-05,0,0.00273657,0.820669
4926,O00116,R,H,419,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.03,,,,,,,,,100402,45249,ENSG00000018510,ENST00000264167,CCDS2275.1,AGPS,0.64,probably_damaging,0.993,deleterious,0,5.33389,34,O00116_R419H,R,H,419,RH,R419H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.794,-4.475,3.681,,,,,,2.085,,68.39,0.000608599,0,0.0207545,0.862261
4927,O00116,L,P,469,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,106893,38758,ENSG00000018510,ENST00000264167,CCDS2275.1,AGPS,0.71,probably_damaging,0.998,deleterious,0,3.08583,16.3,O00116_L469P,L,P,469,LP,L469P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.759,-4.361,2.602,,,,,,1.536,,72.64,0.00227698,0,0.0776498,0.886093
6079,P07225,K,E,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,0.001,0.002,,,,5359,11,ENSG00000184500,ENST00000394236,CCDS2923.1,PROS1,0.29,benign,0.012,tolerated,0.18,1.41564,10.67,P07225_K196E,K,E,196,KE,K196E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.633,-2.227,0.594,,,,,,24.565,24.565,82.69,0.00108908,0,0.03714,1.01275
6086,Q9H0F7,R,X,17,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.03,,,,,,,,,2987,1,ENSG00000113966,ENST00000476753,,ARL6,0.32,,,,,2.25973,13.51,Q9H0F7_R17X,R,X,17,RX,R17X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00806618,0,0.275073,0.913711
6232,P58418,Y,X,176,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.01,0,0,0,0.001,,,,0.001,13579,46,ENSG00000163646,ENST00000327047,CCDS3153.1,CLRN1,0.76,,,,,4.69972,26,P58418_Y176X,Y,X,176,YX,Y176X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0056953,0,0.194222,0.916933
6660,Q6ZWL3,Y,H,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.03,,,,,,,,,1495,13219,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.42,probably_damaging,0.999,deleterious,0,4.19141,21.7,Q6ZWL3_Y219H,Y,H,219,YH,Y219H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.023,-3.636,2.613,,,,,,,,,0.00143573,0,0.0489613,0.733544
6664,Q6ZWL3,T,I,325,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.03,,,,,,,,,5241,9473,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.62,probably_damaging,0.983,deleterious,0,4.72854,26.3,Q6ZWL3_T325I,T,I,325,TI,T325I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-0.998,-3.416,2.418,,,,,,,,,0.000953874,0,0.0325291,0.748964
6747,Q6KC79,A,G,1246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,,,,,,125944,61457,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.46,probably_damaging,0.996,deleterious,0,5.10813,32,Q6KC79_A1246G,A,G,1246,AG,A1246G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.527,-3.421,1.894,,,,,,3.161,,37.59,,,,0.827253
6830,Q9UI17,H,R,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,0.001,0.003,0,0.002,,,0.01,,13768,5,ENSG00000132837,ENST00000255189,CCDS4044.1,DMGDH,0.13,probably_damaging,0.946,deleterious,0.01,4.85507,27.7,Q9UI17_H109R,H,R,109,HR,H109R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.311,-3.26,1.949,,,,,,,,,0.000684644,0,0.0233478,0.901819
6852,P25054,R,X,554,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.05,,,,,,,,,54,1066,ENSG00000134982,ENST00000257430,CCDS4107.1,APC,0.19,,,,,7.42185,39,P25054_R554X,R,X,554,RX,R554X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6880,Q92878,X,Y,1174,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.33,0.01,,,,,,,,,591,113,ENSG00000113522,ENST00000378823,,RAD50,1,,,,,1.23408,10.01,Q92878_X1174Y,X,Y,1174,XY,X1174Y,Stop,Hydrophobic,5.71,5.66,-0.05,132.5,181,48.5,141.9,193.6,51.7,,,,,,,,,,,,,,,,0.93497
6933,P04150,I,M,747,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,118871,171,ENSG00000113580,ENST00000394464,CCDS4278.1,NR3C1,0.96,probably_damaging,0.977,deleterious,0,2.55019,14.49,P04150_I747M,I,M,747,IM,I747M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.483,-3.918,2.435,0.15,.,B,0.07,1.26,2.624,,82.75,0.00934559,0,0.318704,0.806263
7218,Q86VQ0,Q,X,279,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.04,0,0,0,,,,,,43773,5808,ENSG00000135338,ENST00000369846,CCDS4990.1,LCA5,0.4,,,,,6.06076,37,Q86VQ0_Q279X,Q,X,279,QX,Q279X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7278,Q8N157,V,D,443,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.03,,,,,,,,,41991,67966,ENSG00000135541,ENST00000457866,CCDS47483.1,AHI1,0.37,probably_damaging,0.996,deleterious,0,4.31984,22.7,Q8N157_V443D,V,D,443,VD,V443D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.039,-3.774,2.735,,,,,,,,,0.000666919,0,0.0227433,0.8044
7287,P15260,I,T,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,,,,,,12266,394,ENSG00000027697,ENST00000543628,,IFNGR1,0.13,probably_damaging,0.998,deleterious,0,3.36573,17.34,P15260_I59T,I,T,59,IT,I59T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.0010416,0,0.0355208,0.924299
7492,P08183,G,V,185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,33967,61975,ENSG00000085563,ENST00000265724,CCDS5608.1,ABCB1,0.14,probably_damaging,0.999,deleterious,0,4.81204,27.2,P08183_G185V,G,V,185,GV,G185V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.809,-3.571,2.762,0.011,H,A,0.73,-0.82,,,,0.000295581,0,0.0100799,0.607084
7777,P11245,R,Q,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.04,0.282,0.266,0.29,0.24,0.23,0.18,0.26,0.28,9306,401,ENSG00000156006,ENST00000286479,CCDS6008.1,NAT2,0.68,probably_damaging,0.992,tolerated,0.05,2.20447,13.33,P11245_R197Q,R,Q,197,RQ,R197Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,0.192,B,B,0.56,-0.47,,,,0.00336468,0,0.114743,0.673182
7890,Q99502,R,G,513,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,,,,,,145272,11895,ENSG00000104313,ENST00000388741,,EYA1,0.92,possibly_damaging,0.769,deleterious,0,3.87217,19.68,Q99502_R513G,R,G,513,RG,R513G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.000695605,0,0.0237216,0.953424
8214,O75072,R,X,47,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.01,,,,,,,,,21511,100,ENSG00000106692,ENST00000540160,,FKTN,0.17,,,,,3.90384,19.85,O75072_R47X,R,X,47,RX,R47X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00118008,0,0.0402433,0.908362
8433,P51812,I,K,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0,,,,,,,,,25348,7,ENSG00000177189,ENST00000379548,,RPS6KA3,0.23,probably_damaging,1,deleterious,0,4.73066,26.4,P51812_I160K,I,K,160,IK,I160K,Hydrophobic,PositiveCharge,6.02,9.74,3.72,131,146,15,166.7,168.6,1.9,102,,,,,,,,,,,,0.000138618,0,0.00472717,0.988909
8736,P00480,P,R,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,7389,3138,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.64,probably_damaging,0.999,tolerated,0.36,2.07046,12.88,P00480_P225R,P,R,225,PR,P225R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.641,-3.442,1.801,0.068,.,b,0.68,0.46,15.064,15.064,69.49,0.00514309,0,0.17539,0.770254
8737,P00480,P,L,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,7389,3138,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.64,probably_damaging,0.988,tolerated,0.68,1.57912,11.24,P00480_P225L,P,L,225,PL,P225L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.641,-2.631,0.99,0.068,.,b,1.07,0.46,17.715,17.715,69.49,0.00514309,0,0.17539,0.766003
9080,P46100,R,K,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,91,4190,ENSG00000085224,ENST00000400866,,ATRX,0.19,possibly_damaging,0.68,tolerated,0.05,4.77125,26.8,P46100_R31K,R,K,31,RK,R31K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,,,,,,,,,,,,,,,0.95801
9250,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.33,0.01,,,,,,,,,123939,5155,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.60116,25.1,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9475,P13473,L,X,36,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0,,,,,,,,,18,10297,ENSG00000005893,ENST00000538785,,LAMP2,0.12,,,,,5.89815,36,P13473_L36X,L,X,36,LX,L36X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
9477,Q13620,R,X,375,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.03,,,,,,,,,137,240,ENSG00000158290,ENST00000336592,,CUL4B,0.42,,,,,6.11771,37,Q13620_R375X,R,X,375,RX,R375X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9537,P00492,D,Y,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.33,0.01,,,,,,,,,25059,209,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.81,probably_damaging,0.978,deleterious,0,4.37108,23.1,P00492_D177Y,D,Y,177,DY,D177Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.264,-4.069,2.805,0.482,S,A,0.96,-0.65,,,,0.00605564,0,0.20651,0.579249
9596,P00740,R,X,256,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.33,0.03,,,,,,,,,30800,507,ENSG00000101981,ENST00000394090,,F9,0.61,,,,,3.69624,18.78,P00740_R256X,R,X,256,RX,R256X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00341871,0,0.116585,0.951177
111,Q8IZT6,I,V,313,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.34,0,,,,0.004,0.01,,,,3380,59187,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.09,benign,0.003,tolerated,0.38,-0.046619,3.776,Q8IZT6_I313V,I,V,313,IV,I313V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-2.087,-2.462,0.375,,,,,,14.038,14.038,92.15,,,,0.987762
116,Q8IZT6,S,G,2562,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.34,0.01,0.321,0.104,0.433,0.25,0.17,0.28,0.04,0.42,33578,17435,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.74,probably_damaging,0.994,deleterious,0.01,3.39363,17.45,Q8IZT6_S2562G,S,G,2562,SG,S2562G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-1.641,-3.083,1.442,,,,,,20.06,20.06,90.74,,,,0.926193
118,Q8IZT6,S,F,283,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.34,0.03,,,,,,,,,3291,59276,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.08,possibly_damaging,0.441,deleterious,0,1.0891,9.445,Q8IZT6_S283F,S,F,283,SF,S283F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.672,-4.337,2.665,,,,,,11.07,,84.3,,,,0.829126
127,Q6KC79,N,S,674,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.34,0.01,0.114,0.092,0.125,0.12,0.09,0.2,0.11,0.11,23695,11802,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.25,benign,0.008,tolerated,0.4,0.062284,4.339,Q6KC79_N674S,N,S,674,NS,N674S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-2.23,-2.381,0.151,,,,,,13.365,13.365,68.44,,,,0.978962
134,Q15858,W,R,1150,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.34,0,0.877,0.891,0.871,0.89,0.95,0.88,0.88,0.86,69109,43976,ENSG00000169432,ENST00000409672,CCDS46441.1,SCN9A,0.58,benign,0,tolerated,1,-1.41253,0.022,Q15858_W1150R,W,R,1150,WR,W1150R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,,,,0.936836
140,Q15468,S,Y,952,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.34,0.03,,,,,,,,,23563,81,ENSG00000123473,ENST00000337817,CCDS548.1,STIL,0.74,possibly_damaging,0.768,deleterious,0,3.22814,16.82,Q15468_S952Y,S,Y,952,SY,S952Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.44,-4.231,2.791,,,,,,5.092,,84.07,0.00117716,0,0.0465539,0.84723
141,Q15165,A,G,148,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.34,0,0.246,0.282,0.228,0.26,0.18,0.24,0.35,0.25,1,22,ENSG00000105854,ENST00000222572,CCDS5640.1,PON2,0.42,benign,0.008,deleterious,0.03,0.633,7.402,Q15165_A148G,A,G,148,AG,A148G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-2.514,-1.98,-0.534,,,,,,24.917,24.917,86.44,0.00440491,0,0.174205,1.02632
383,O75445,P,T,3893,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.34,0,0.017,0.005,0.022,0.01,,0.01,,0.02,681988,118515,ENSG00000042781,ENST00000366943,,USH2A,0.74,probably_damaging,0.997,tolerated,0.08,3.66285,18.62,O75445_P3893T,P,T,3893,PT,P3893T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,,,,0.956379
398,O43511,V,G,196,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.34,0.01,0.049,0.143,0.001,0.04,,0.02,0.14,,22,36,ENSG00000091137,ENST00000544569,,SLC26A4,0.53,benign,0,tolerated,0.36,2.45309,14.16,O43511_V196G,V,G,196,VG,V196G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.843,-2.918,1.075,,,,,,18.303,18.303,67.05,0.00168482,0,0.0666309,0.930458
282,Q16518,L,S,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,11667,9471,ENSG00000116745,ENST00000262340,CCDS643.1,RPE65,0.64,probably_damaging,0.972,tolerated,0.05,4.29363,22.5,Q16518_L341S,L,S,341,LS,L341S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.208,-3.346,2.138,0.139,.,a,0.82,-0.56,,,,0.0024356,0,0.0830591,0.586044
289,P11310,Y,H,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,0.001,0,0.001,,,,,,208,459,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.16,benign,0.135,tolerated,0.27,2.3933,13.96,P11310_Y67H,Y,H,67,YH,Y67H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.446,-2.151,0.705,0.177,H,A,0.38,0.25,24.219,24.219,68.41,0.00440435,0,0.150198,0.909054
294,P11310,C,R,244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,58,79,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.58,probably_damaging,0.995,deleterious,0,4.59438,25,P11310_C244R,C,R,244,CR,C244R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,0.029,T,A,1.66,-0.21,,,,0.00437984,0,0.149361,0.521112
295,P11310,S,L,245,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,54,75,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.58,probably_damaging,0.999,deleterious,0,5.60356,36,P11310_S245L,S,L,245,SL,S245L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.348,-3.094,1.746,0.024,S,B,0.82,-0.28,,,,0.00207907,0,0.0709004,0.697487
304,P46777,R,X,23,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,690,2820,ENSG00000122406,ENST00000370321,CCDS741.1,RPL5,0.08,,,,,4.75018,26.6,P46777_R23X,R,X,23,RX,R23X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00219565,0,0.0748761,0.959768
638,Q8IZT6,Y,X,3353,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,46787,4226,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.96,,,,,16.7933,50,Q8IZT6_Y3353X,Y,X,3353,YX,Y3353X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
640,Q8IZT6,R,X,3281,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,45072,5941,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.94,,,,,18.955,52,Q8IZT6_R3281X,R,X,3281,RX,R3281X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
642,Q8IZT6,R,X,3244,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,44850,6163,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.93,,,,,18.2228,51,Q8IZT6_R3244X,R,X,3244,RX,R3244X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
643,Q8IZT6,R,X,3233,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,44817,6196,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.93,,,,,18.7403,52,Q8IZT6_R3233X,R,X,3233,RX,R3233X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
650,Q8IZT6,Q,X,2890,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,34562,16451,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.83,,,,,16.14,50,Q8IZT6_Q2890X,Q,X,2890,QX,Q2890X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
769,Q99698,S,X,1351,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0,,,,,,,,,73354,1994,ENSG00000143669,ENST00000536965,,LYST,0.98,,,,,12.0846,45,Q99698_S1351X,S,X,1351,SX,S1351X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
963,P00367,E,A,349,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,125,26,ENSG00000148672,ENST00000277865,CCDS7382.1,GLUD1,0.63,benign,0.139,tolerated,0.36,2.50171,14.32,P00367_E349A,E,A,349,EA,E349A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-1.255,-2.813,1.558,0.262,H,A,1.04,1.21,,,,0.00323354,0,0.11027,0.856747
975,P60484,H,R,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,7514,451,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.23,probably_damaging,1,deleterious,0,4.38735,23.2,P60484_H93R,H,R,93,HR,H93R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.627,-3.165,1.538,,,,,,,,,0.000878491,0,0.0299584,0.927393
1019,P11712,L,V,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,6000,1617,ENSG00000138109,ENST00000260682,CCDS7437.1,CYP2C9,0.42,benign,0.002,tolerated,0.14,0.240981,5.301,P11712_L208V,L,V,208,LV,L208V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.318,-2.95,1.632,0.642,H,A,0.11,0.1,2.498,,60.61,0.00357985,0,0.12208,0.840422
1197,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.34,0,,,,,,,,,846,21,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,1.23173,9.994,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1198,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.34,0,,,,,,,,,847,22,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,2.08964,12.94,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1199,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.34,0,,,,,,,,,848,23,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,2.07447,12.89,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1696,P14679,D,N,448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,1163,10379,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.85,benign,0.426,tolerated,0.09,3.82263,19.41,P14679_D448N,D,N,448,DN,D448N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-2.077,-2.794,0.717,,,,,,11.795,11.795,88.85,0.00185647,0,0.0633095,1.01112
2004,Q9NWZ3,Q,X,293,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0,0,0,0,,,,,,4443,4235,ENSG00000198001,ENST00000448290,CCDS8744.1,IRAK4,0.64,,,,,5.969,36,Q9NWZ3_Q293X,Q,X,293,QX,Q293X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
2176,O15078,G,X,1890,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0,,,,,,,,,26926,28079,ENSG00000198707,ENST00000552810,CCDS55858.1,CEP290,0.76,,,,,11.4705,45,O15078_G1890X,G,X,1890,GX,G1890X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.00058355,0,0.0199003,0.968579
2178,O15078,R,X,205,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,613,68,ENSG00000198707,ENST00000552810,CCDS55858.1,CEP290,0.08,,,,,7.06513,38,O15078_R205X,R,X,205,RX,R205X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000169341,0,0.00577487,0.977351
2365,Q9NZJ4,A,P,3324,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,23828,2823,ENSG00000151835,ENST00000402364,,SACS,0.87,probably_damaging,0.996,deleterious,0.04,4.3935,23.2,Q9NZJ4_A3324P,A,P,3324,AP,A3324P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,,,,0.959577
2403,P06400,Y,X,606,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,11379,101,ENSG00000139687,ENST00000267163,CCDS31973.1,RB1,0.65,,,,,7.15123,38,P06400_Y606X,Y,X,606,YX,Y606X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00121348,0,0.0413821,0.89573
2411,Q5TBB1,L,R,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,598,13867,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.19,probably_damaging,0.999,deleterious,0,4.01396,20.6,Q5TBB1_L60R,L,R,60,LR,L60R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.039,-3.75,2.711,0.095,E,B,1.75,-0.73,,,,0.00515845,0,0.175914,0.521098
2420,Q5TBB1,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.34,0,,,,,,,,,13281,12,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,,,,,,3.91322,19.9,Q5TBB1_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
2463,P28715,L,P,858,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,2209,106,ENSG00000134899,ENST00000355739,CCDS32004.1,ERCC5,0.72,probably_damaging,0.999,deleterious,0,4.51627,24.3,P28715_L858P,L,P,858,LP,L858P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.941,-3.98,3.039,,,,,,,,,0.000633976,0,0.0216199,0.800252
2871,P51159,Q,X,118,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0,,,,,,,,,25032,56,ENSG00000069974,ENST00000569493,CCDS10153.1,RAB27A,0.53,,,,,5.73636,36,P51159_Q118X,Q,X,118,QX,Q118X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00543608,0,0.185382,0.937083
2993,P54132,C,F,1036,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,453,104,ENSG00000197299,ENST00000560509,,BLM,0.81,probably_damaging,1,deleterious,0,4.31624,22.6,P54132_C1036F,C,F,1036,CF,C1036F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.111,-3.923,2.812,,,,,,,,,,,,0.750145
3074,O15305,R,W,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,4110,7,ENSG00000140650,ENST00000268261,CCDS10536.1,PMM2,0.66,benign,0.019,tolerated,0.09,2.33695,13.77,O15305_R162W,R,W,162,RW,R162W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.895,-5.13,3.235,0.568,H,A,1.67,0.66,0.623,,93.9,0.00746652,0,0.254624,0.7708
3297,Q93100,M,I,185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,0.011,0.002,0.015,0.01,,0.01,,0.01,15806,31986,ENSG00000102893,ENST00000299167,,PHKB,0.17,possibly_damaging,0.74,deleterious,0.03,4.92626,28.5,Q93100_M185I,M,I,185,MI,M185I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.012,-2.661,1.649,,,,,,13.017,13.017,77.31,0.000223919,0,0.00763611,0.970188
3313,Q68CZ1,Q,X,684,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,7257,815,ENSG00000103494,ENST00000563746,,RPGRIP1L,0.53,,,,,6.43281,37,Q68CZ1_Q684X,Q,X,684,QX,Q684X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000485866,0,0.016569,0.98231
3591,P21359,M,R,1035,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,5290,23920,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.36,possibly_damaging,0.739,deleterious,0,4.26544,22.3,P21359_M1035R,M,R,1035,MR,M1035R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.998,-3.39,1.392,,,,,,,,,,,,0.867715
4549,P04114,R,X,2085,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,33459,9186,ENSG00000084674,ENST00000233242,CCDS1703.1,APOB,0.46,,,,,10.758,44,P04114_R2085X,R,X,2085,RX,R2085X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4619,Q9UBP0,S,C,362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,52492,41438,ENSG00000021574,ENST00000315285,CCDS1778.1,SPAST,0.59,possibly_damaging,0.712,deleterious,0,3.72492,18.92,Q9UBP0_S362C,S,C,362,SC,S362C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.62,-4.49,2.87,0.32,H,A,0.73,0.24,0.918,,79.87,0.00174915,0,0.0596497,0.763196
4624,Q9UBP0,D,V,470,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,73257,20673,ENSG00000021574,ENST00000315285,CCDS1778.1,SPAST,0.76,probably_damaging,1,deleterious,0,4.41509,23.4,Q9UBP0_D470V,D,V,470,DV,D470V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.139,-3.489,2.35,0.451,H,A,1.19,0.45,,,,0.00103834,0,0.0354095,0.799363
4652,Q07837,R,Q,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,5291,20591,ENSG00000138079,ENST00000260649,CCDS1819.1,SLC3A1,0.26,benign,0.037,tolerated,0.31,0.406406,6.207,Q07837_R181Q,R,Q,181,RQ,R181Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.731,-2.328,0.597,,,,,,16.99,16.99,80.15,0.00332035,0,0.113231,1.00386
4688,P22888,C,X,518,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,18365,493,ENSG00000138039,ENST00000405626,,LHCGR,0.77,,,,,4.38324,23.2,P22888_C518X,C,X,518,CX,C518X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00102753,0,0.0350408,0.910821
4708,P23945,S,Y,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,6685,7513,ENSG00000170820,ENST00000346173,,FSHR,0.2,possibly_damaging,0.812,tolerated,0.2,3.53588,18.05,P23945_S128Y,S,Y,128,SY,S128Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.348,-3.898,2.55,0.112,E,B,0.48,-1.14,,,,0.00148189,0,0.0505356,0.544829
4789,O43683,S,Y,492,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,19578,16337,ENSG00000169679,ENST00000409311,,BUB1,0.48,possibly_damaging,0.708,deleterious,0.01,4.03838,20.7,O43683_S492Y,S,Y,492,SY,S492Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.554,-4.143,2.589,,,,,,1.414,,76.41,0.000570423,0,0.0194526,0.850323
4858,Q99250,L,F,1330,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,78927,6304,ENSG00000136531,ENST00000283256,CCDS33314.1,SCN2A,0.66,probably_damaging,1,deleterious,0,4.3613,23,Q99250_L1330F,L,F,1330,LF,L1330F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.208,-3.353,2.145,,,,,,,,,,,,0.825523
4861,Q14435,Q,X,219,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,6893,7212,ENSG00000115339,ENST00000409882,,GALNT3,0.59,,,,,5.36885,34,Q14435_Q219X,Q,X,219,QX,Q219X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
4869,P35498,Q,H,1489,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,2017,79,ENSG00000144285,ENST00000423058,,SCN1A,0.74,probably_damaging,0.949,deleterious,0,3.12767,16.45,P35498_Q1489H,Q,H,1489,QH,Q1489H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-1.358,-4.007,2.649,,,,,,,,,4.83e-05,0,0.00164634,0.841384
4879,Q15858,I,T,1461,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,107309,5776,ENSG00000169432,ENST00000409672,CCDS46441.1,SCN9A,0.74,probably_damaging,0.989,deleterious,0.04,3.72612,18.92,Q15858_I1461T,I,T,1461,IT,I1461T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,,,,0.951663
4885,Q15858,L,R,823,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,33601,23629,ENSG00000169432,ENST00000409672,CCDS46441.1,SCN9A,0.42,probably_damaging,1,deleterious,0,4.19181,21.7,Q15858_L823R,L,R,823,LR,L823R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.292,-3.965,2.673,,,,,,1.842,,92.4,,,,0.825563
4915,P15882,E,K,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,816,5,ENSG00000128656,ENST00000409156,CCDS46454.1,CHN1,0.66,probably_damaging,0.98,deleterious,0,5.79843,36,P15882_E287K,E,K,287,EK,E287K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00391723,0,0.133586,0.963428
5461,P05067,D,N,670,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,6131,10340,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.9,probably_damaging,0.984,deleterious,0.04,4.41705,23.4,P05067_D670N,D,N,670,DN,D670N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00197538,0,0.0673643,0.983886
5462,P05067,E,Q,669,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,6128,10343,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.9,probably_damaging,0.983,deleterious,0.01,4.67751,25.8,P05067_E669Q,E,Q,669,EQ,E669Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,,,,,,,,,,,,0.00233357,0,0.0795795,0.985583
5463,P05067,E,K,669,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,6128,10343,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.9,probably_damaging,0.957,deleterious,0.04,5.09851,31,P05067_E669K,E,K,669,EK,E669K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00233357,0,0.0795795,0.972716
5495,Q08334,W,X,159,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,3285,3316,ENSG00000243646,ENST00000290200,CCDS13623.1,IL10RB,0.49,,,,,5.60444,36,Q08334_W159X,W,X,159,WX,W159X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
6006,Q9UBX0,T,A,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,0,0,0,,,,,,1725,233,ENSG00000163666,ENST00000473921,,HESX1,0.97,benign,0.004,tolerated,0.15,0.966283,8.943,Q9UBX0_T147A,T,A,147,TA,T147A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,0.00300423,0,0.10245,0.964051
6053,Q04446,H,R,504,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,40864,2413,ENSG00000114480,ENST00000489715,,GBE1,0.76,probably_damaging,1,deleterious,0,3.68558,18.73,Q04446_H504R,H,R,504,HR,H504R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00196514,0,0.0670154,0.986365
6072,P28069,K,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,12169,4397,ENSG00000064835,ENST00000560656,,POU1F1,0.86,,,,,5.17479,32,P28069_K145X,K,X,145,KX,K145X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00119646,0,0.0408017,0.905782
6073,P28069,R,Q,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,12164,4402,ENSG00000064835,ENST00000560656,,POU1F1,0.85,probably_damaging,0.996,deleterious,0,5.24818,33,P28069_R143Q,R,Q,143,RQ,R143Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.982,-3.518,2.536,0.107,H,A,0.56,0.02,0.926,,50.17,0.00125191,0,0.0426929,0.661198
6243,Q96RP9,M,R,515,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,4151,36,ENSG00000168827,ENST00000264263,,GFM1,0.67,probably_damaging,0.999,deleterious,0,4.55877,24.7,Q96RP9_M515R,M,R,515,MR,M515R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,0.00261088,0,0.0890365,0.965287
6246,O75752,G,R,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,15224,185,ENSG00000169255,ENST00000392779,CCDS3193.1,B3GALNT1,0.82,probably_damaging,0.999,deleterious,0,4.65792,25.6,O75752_G271R,G,R,271,GR,G271R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,,,,,,,,,,,0.752031
6247,O75752,E,A,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,15210,199,ENSG00000169255,ENST00000392779,CCDS3193.1,B3GALNT1,0.8,probably_damaging,0.995,deleterious,0,4.30094,22.5,O75752_E266A,E,A,266,EA,E266A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-1.005,-2.933,1.928,,,,,,,,,,,,0.833203
6250,P14410,G,D,1073,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,0.002,0.001,0.002,,,,,,57231,42367,ENSG00000090402,ENST00000264382,CCDS3196.1,SI,0.59,probably_damaging,0.999,deleterious,0.01,4.49094,24.1,P14410_G1073D,G,D,1073,GD,G1073D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,E,B,0.46,-0.63,,,,0.000490541,0,0.0167285,0.573883
6315,Q96RQ3,M,R,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,0,0,0,,,,,,53722,25352,ENSG00000078070,ENST00000539926,,MCCC1,0.45,probably_damaging,0.97,deleterious,0.04,3.83975,19.5,Q96RQ3_M190R,M,R,190,MR,M190R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,0.00276016,0,0.0941273,0.965287
6497,Q16585,T,R,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,4742,70,ENSG00000163069,ENST00000381431,CCDS3488.1,SGCB,0.47,probably_damaging,0.98,deleterious,0.01,4.88002,28,Q16585_T151R,T,R,151,TR,T151R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.415,-3.519,2.104,,,,,,1.78,,56.29,0.00387978,0,0.132308,0.884237
6516,P30968,P,L,320,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,8364,28,ENSG00000109163,ENST00000226413,CCDS3517.1,GNRHR,0.98,probably_damaging,1,deleterious,0,4.91143,28.3,P30968_P320L,P,L,320,PL,P320L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.020121,0,0.686168,0.774868
6551,Q96H96,Y,C,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,9177,3185,ENSG00000173085,ENST00000311461,,COQ2,0.75,probably_damaging,0.969,deleterious,0,2.85667,15.52,Q96H96_Y247C,Y,C,247,YC,Y247C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.023,-4.718,3.695,,,,,,,,,0.00115981,0,0.039552,0.703992
6575,P55157,N,Y,780,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,6820,4130,ENSG00000138823,ENST00000457717,CCDS3651.1,MTTP,0.87,possibly_damaging,0.89,deleterious,0,4.733,26.4,P55157_N780Y,N,Y,780,NY,N780Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-1.462,-4.051,2.589,,,,,,1.367,,75.95,0.00222623,0,0.0759191,0.846623
6635,P15428,S,P,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,226,77,ENSG00000164120,ENST00000296522,CCDS3821.1,HPGD,0.73,benign,0.007,deleterious,0.03,2.64494,14.8,P15428_S193P,S,P,193,SP,S193P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.363,-3.495,2.132,0.08,G,A,0.25,1.02,2.345,,88.35,0.00717164,0.0136986,0.244568,0.742624
6636,P15428,A,P,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,13635,1956,ENSG00000164120,ENST00000296522,CCDS3821.1,HPGD,0.53,probably_damaging,1,deleterious,0.01,4.73221,26.4,P15428_A140P,A,P,140,AP,A140P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.175,-3.39,2.215,0.049,G,A,0.52,-1.06,,,,0.00588649,0,0.200742,0.546717
6655,Q6ZWL3,I,T,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,82,14795,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.21,probably_damaging,0.968,deleterious,0,2.9809,15.94,Q6ZWL3_I111T,I,T,111,IT,I111T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.437,-3.288,1.851,,,,,,3.937,,78.86,0.00408342,0,0.139253,0.954365
6656,Q6ZWL3,L,X,112,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0,,,,,,,,,79,14792,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.21,,,,,6.82385,38,Q6ZWL3_L112X,L,X,112,LX,L112X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.00315654,0,0.107645,0.957014
6663,Q6ZWL3,D,V,324,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,5238,9476,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.62,probably_damaging,0.999,deleterious,0,3.88514,19.75,Q6ZWL3_D324V,D,V,324,DV,D324V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.071,-3.655,2.584,,,,,,1.895,,77.14,0.00214267,0,0.0730693,0.854033
6680,P03952,C,Y,596,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,0,0,0,,,,,,29724,1010,ENSG00000164344,ENST00000511608,,KLKB1,0.87,probably_damaging,1,deleterious,0,4.16561,21.5,P03952_C596Y,C,Y,596,CY,C596Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00557801,0,0.190222,0.920725
6748,Q6KC79,L,X,1504,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0,,,,,,,,,133386,54015,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.56,,,,,13.841,47,Q6KC79_L1504X,L,X,1504,LX,L1504X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
6834,P13611,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.34,0.01,,,,,,,,,1392,242,ENSG00000038427,ENST00000265077,CCDS4060.1,VCAN,,,,,,3.9385,20.1,P13611_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6860,P49419,N,I,301,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,1112,486,ENSG00000164904,ENST00000553117,,ALDH7A1,0.63,probably_damaging,1,deleterious,0,4.32068,22.7,P49419_N301I,N,I,301,NI,N301I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.427,-3.741,2.314,0.006,E,B,1.09,-0.56,0.575,,19.11,0.000297471,0,0.0101444,0.594806
6879,Q92878,R,X,1093,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.04,,,,,,,,,90,24295,ENSG00000113522,ENST00000265335,CCDS34233.1,RAD50,0.83,,,,,12.4013,46,Q92878_R1093X,R,X,1093,RX,R1093X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7180,P22033,N,Y,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,5403,27429,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.29,probably_damaging,0.999,deleterious,0,4.30951,22.6,P22033_N219Y,N,Y,219,NY,N219Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-0.877,-4.035,3.158,0.013,.,L,0.82,-0.3,4.589,,79.07,0.000148766,0,0.00507322,0.639419
7205,Q9ULC3,L,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0,0,0,0,0.001,,,,0.003,26591,5018,ENSG00000112210,ENST00000317483,CCDS4962.1,RAB23,0.61,,,,,9.29139,42,Q9ULC3_L145X,L,X,145,LX,L145X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
7209,Q86UR5,R,H,820,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,0,0,0,,,,,,593,12998,ENSG00000079841,ENST00000491071,,RIMS1,0.55,probably_damaging,0.953,tolerated,0.08,4.35151,22.9,Q86UR5_R820H,R,H,820,RH,R820H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.583,-4.365,2.782,0.521,T,A,1.03,0,0.872,,93.68,,,,0.748393
7214,Q9UM54,H,R,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,23776,75314,ENSG00000196586,ENST00000369985,,MYO6,0.19,probably_damaging,0.999,deleterious,0,4.24904,22.1,Q9UM54_H246R,H,R,246,HR,H246R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.627,-3.165,1.538,,H,A,1.03,-0.88,,,,6.61e-05,0,0.00225495,0.734749
7228,Q92562,I,T,20,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,0.001,0,0.002,0.001,,,,0.003,13413,23321,ENSG00000112367,ENST00000454215,,FIG4,0.08,probably_damaging,0.986,deleterious,0,4.34124,22.8,Q92562_I20T,I,T,20,IT,I20T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.000785395,0,0.0267836,0.993982
7279,Q8N157,R,X,435,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,41966,67991,ENSG00000135541,ENST00000457866,CCDS47483.1,AHI1,0.36,,,,,8.29099,40,Q8N157_R435X,R,X,435,RX,R435X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000853003,0,0.0290892,0.977351
7376,Q3SYG4,G,R,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,171,6,ENSG00000122507,ENST00000242067,CCDS43566.1,BBS9,0.16,probably_damaging,1,deleterious,0,5.30546,34,Q3SYG4_G141R,G,R,141,GR,G141R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.000174896,0,0.00596431,0.78896
7483,Q05209,K,R,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,7,10306,ENSG00000127947,ENST00000522115,,PTPN12,0.12,benign,0.169,deleterious,0.01,3.37047,17.36,Q05209_K24R,K,R,24,KR,K24R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,,,,,,,,,,,,,,,0.960858
7495,O00522,D,G,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,715,77,ENSG00000001631,ENST00000394505,CCDS5624.1,KRIT1,0.19,probably_damaging,0.991,deleterious,0.02,4.37622,23.1,O00522_D137G,D,G,137,DG,D137G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.665,-3.358,1.693,,,,,,1.804,,50.54,0.000315227,0,0.0107499,0.93144
7522,Q9UJS0,R,Q,588,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.05,,,,,,,,,266,777,ENSG00000004864,ENST00000265631,CCDS5645.1,SLC25A13,0.87,probably_damaging,0.971,deleterious,0,5.05359,30,Q9UJS0_R588Q,R,Q,588,RQ,R588Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,,,,,,,,,0.00332502,0,0.11339,0.886922
7541,O43511,S,T,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,11226,4,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.17,probably_damaging,0.997,deleterious,0,4.68973,25.9,O43511_S133T,S,T,133,ST,S133T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.141,-2.829,1.688,,,,,,8.891,8.891,41.67,0.000357228,0,0.0121822,0.937232
7543,O43511,T,I,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,13691,43484,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.25,benign,0.433,deleterious,0,1.68711,11.6,O43511_T193I,T,I,193,TI,T193I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.249,-3.91,2.661,,,,,,2.713,,90.13,0.000907849,0,0.0309595,0.872408
7572,O15409,R,X,328,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,14058,42,ENSG00000128573,ENST00000360232,CCDS5761.2,FOXP2,0.76,,,,,3.41603,17.54,O15409_R328X,R,X,328,RX,R328X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7587,P13569,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.34,0.03,0,0,0,,,,,,54271,132706,ENSG00000001626,ENST00000454343,,CFTR,,,,,,4.83872,27.5,P13569_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7605,P13569,C,X,494,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,5,28107,ENSG00000001626,ENST00000426809,,CFTR,0.34,,,,,7.84992,39,P13569_C494X,C,X,494,CX,C494X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000406103,0,0.0138489,0.980504
7806,P06858,L,V,392,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,0,0,0,,,,,,21964,6324,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.83,probably_damaging,0.993,deleterious,0,1.69062,11.61,P06858_L392V,L,V,392,LV,L392V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.207,-2.88,1.673,,,,,,2.219,,90.32,0.00221583,0,0.0755644,0.966037
7830,Q56NI9,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.34,0,,,,,,,,,28750,2013,ENSG00000171320,ENST00000305188,CCDS34872.1,ESCO2,,,,,,3.3411,17.25,Q56NI9_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7871,Q68CP4,S,F,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,1514,226,ENSG00000165102,ENST00000521576,,HGSNAT,0.67,benign,0.255,deleterious,0.04,3.3463,17.27,Q68CP4_S235F,S,F,235,SF,S235F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,,,,0.933289
7873,P56715,R,X,677,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,9844,4924,ENSG00000104237,ENST00000220676,CCDS6160.1,RP1,0.31,,,,,4.4634,23.8,P56715_R677X,R,X,677,RX,R677X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7920,Q5HYA8,S,C,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,0.001,0.003,0,0.001,,,0.01,,11443,9,ENSG00000164953,ENST00000452276,,TMEM67,0.55,probably_damaging,0.952,deleterious,0,4.22823,22,Q5HYA8_S217C,S,C,217,SC,S217C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,,,,0.949396
7941,Q7Z7G8,E,X,2385,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.01,,,,,,,,,45933,12035,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.59,,,,,15.4863,49,Q7Z7G8_E2385X,E,X,2385,EX,E2385X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
7949,Q7LG56,R,X,275,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.04,,,,,,,,,6020,77,ENSG00000048392,ENST00000395912,CCDS55267.1,RRM2B,0.92,,,,,2.58151,14.59,Q7LG56_R275X,R,X,275,RX,R275X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8042,Q7Z2E3,W,X,279,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0,0,0,0,,,,,,15403,1088,ENSG00000137074,ENST00000379813,CCDS47956.1,APTX,0.82,,,,,5.51739,35,Q7Z2E3_W279X,W,X,279,WX,W279X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00367492,0,0.125322,0.931205
8139,Q96T21,R,Q,472,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,54,10035,ENSG00000187742,ENST00000534113,,SECISBP2,0.6,probably_damaging,0.995,deleterious,0,4.3977,23.3,Q96T21_R472Q,R,Q,472,RQ,R472Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
8313,Q7Z333,E,X,343,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.04,,,,,,,,,23863,69683,ENSG00000107290,ENST00000372169,,SETX,0.13,,,,,5.50528,35,Q7Z333_E343X,E,X,343,EX,E343X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8393,O75665,S,R,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,21898,12695,ENSG00000046651,ENST00000380567,,OFD1,0.34,possibly_damaging,0.872,tolerated,0.09,3.404,17.5,O75665_S295R,S,R,295,SR,S295R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,,,,0.94527
8396,P56377,E,X,76,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,449,13901,ENSG00000182287,ENST00000380291,,AP1S2,0.47,,,,,7.36112,39,P56377_E76X,E,X,76,EX,E76X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8401,O76039,A,V,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,122308,89130,ENSG00000008086,ENST00000379989,CCDS14186.1,CDKL5,0.04,probably_damaging,1,deleterious,0,4.16254,21.5,O76039_A40V,A,V,40,AV,A40V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,,,,0.857831
8440,O43462,R,H,429,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,41285,4504,ENSG00000012174,ENST00000379484,CCDS14201.1,MBTPS2,0.83,probably_damaging,0.997,deleterious,0,4.85862,27.7,O43462_R429H,R,H,429,RH,R429H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.717,-4.336,2.619,,,,,,1.125,,90.75,0.00413476,0,0.141004,0.87406
8479,P32189,W,R,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,51,5047,ENSG00000198814,ENST00000378946,CCDS14225.1,GK,0.96,probably_damaging,1,deleterious,0,4.46228,23.8,P32189_W509R,W,R,509,WR,W509R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.301,-3.893,2.592,0.005,H,A,1.67,-1.2,,,,0.00138981,0,0.0473952,0.4875
8510,P11532,Q,X,497,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0,,,,,,,,,220684,22259,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.13,,,,,8.27671,40,P11532_Q497X,Q,X,497,QX,Q497X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8582,P00480,I,R,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,14808,36255,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.19,probably_damaging,0.98,deleterious,0.01,3.60838,18.37,P00480_I67R,I,R,67,IR,I67R,Hydrophobic,PositiveCharge,6.02,6.34,0.32,131,174,43,166.7,173.4,6.7,97,-2.348,-3.336,0.988,0.135,I,A,1.68,-0.67,13.898,13.898,57.34,0.00586048,0,0.199854,0.682319
8583,P00480,Q,X,69,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.34,0.03,,,,,,,,,14813,36250,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.19,,,,,6.22329,37,P00480_Q69X,Q,X,69,QX,Q69X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00559593,0,0.190833,0.933611
8596,P00480,E,K,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,17233,33830,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.25,possibly_damaging,0.773,tolerated,0.06,5.08114,31,P00480_E87K,E,K,87,EK,E87K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.662,-3.634,1.972,0.251,S,A,1.3,0.36,5.26,,81.07,0.00536645,0,0.183007,0.801078
8630,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.34,0.01,,,,,,,,,91,2395,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,3.07935,16.28,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8631,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.34,0.01,,,,,,,,,91,2395,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,3.0733,16.26,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8632,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.34,0.01,,,,,,,,,91,2395,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,3.18728,16.67,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8834,O14936,P,S,390,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,0,0.001,0,,,,,,390,30065,ENSG00000147044,ENST00000421587,CCDS48094.1,CASK,0.43,benign,0.002,tolerated,0.69,1.7584,11.84,O14936_P390S,P,S,390,PS,P390S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.000663633,0,0.0226313,0.994616
9077,P46100,I,T,2012,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,196331,84994,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.82,possibly_damaging,0.823,,,3.07331,16.26,P46100_I2012T,I,T,2012,IT,I2012T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,,,,0.951663
9089,P46100,P,A,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,97366,183959,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.06,probably_damaging,0.99,,,3.38349,17.41,P46100_P152A,P,A,152,PA,P152A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,,,,,,,,,,,,,,,0.95904
9093,Q04656,S,L,637,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,100514,39180,ENSG00000165240,ENST00000343533,,ATP7A,0.45,benign,0.234,tolerated,0.43,2.28395,13.59,Q04656_S637L,S,L,637,SL,S637L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.543,-3.232,1.689,,,,,,4.267,,65.33,,,,0.853214
9267,P29400,G,E,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0,,,,,,,,,138098,119562,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.13,,,deleterious,0,3.49848,17.88,P29400_G213E,G,E,213,GE,G213E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,2.4e-05,0,0.000817235,0.811426
9292,P29400,G,V,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,2002,42776,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.2,,,deleterious,0.01,3.1724,16.61,P29400_G334V,G,V,334,GV,G334V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.009,-3.095,2.086,,,,,,1.161,,6.59,0.000316967,0,0.0108092,0.808772
9442,P29400,,,,Transcript,INTRONIC,2,intron,pathogenic,0.34,0,,,,,,,,,2220,1721,ENSG00000188153,ENST00000504541,,COL4A5,,,,,,1.12954,9.604,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9445,P29400,C,R,1684,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,3530,411,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,1,probably_damaging,1,deleterious,0,4.11131,21.2,P29400_C1684R,C,R,1684,CR,C1684R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.122719,1,4.18497,0.93649
9446,P29400,C,W,1684,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,3532,409,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,1,probably_damaging,1,deleterious,0,3.08093,16.29,P29400_C1684W,C,W,1684,CW,C1684W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,0.122719,1,4.18497,0.936726
9464,P50052,I,F,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,1715,2536,ENSG00000180772,ENST00000371906,CCDS14569.1,AGTR2,0.15,benign,0.002,tolerated,0.09,0.644052,7.458,P50052_I53F,I,F,53,IF,I53F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.763,-2.246,0.483,,,,,,35.785,35.785,92.84,0.00452639,0,0.154359,1.01282
9476,Q13620,R,C,559,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.04,,,,,,,,,802,7013,ENSG00000158290,ENST00000336592,,CUL4B,0.62,probably_damaging,1,deleterious,0,4.37176,23.1,Q13620_R559C,R,C,559,RC,R559C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
9536,P00492,P,L,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,25057,211,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.81,possibly_damaging,0.847,deleterious,0,4.93089,28.6,P00492_P176L,P,L,176,PL,P176L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.236,-3.265,2.029,0.09,.,B,1.07,-0.51,,,,0.00783691,0,0.267255,0.582148
9624,P00740,W,R,415,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.01,,,,,,,,,31277,30,ENSG00000101981,ENST00000394090,,F9,0.98,probably_damaging,1,deleterious,0,3.50986,17.93,P00740_W415R,W,R,415,WR,W415R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00318845,0,0.108733,0.952892
9776,O60832,P,L,10,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.34,0.03,,,,,,,,,15,445,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.02,benign,0,deleterious,0.01,1.61321,11.35,O60832_P10L,P,L,10,PL,P10L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.845,-2.134,0.289,,,,,,34.045,34.045,93.97,0.000643473,0,0.0219438,1.00377
21,Q9NRA2,A,T,43,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.35,0.04,,,,,,,,,108,9338,ENSG00000119899,ENST00000355773,CCDS4981.1,SLC17A5,0.09,possibly_damaging,0.696,deleterious,0,3.84381,19.52,Q9NRA2_A43T,A,T,43,AT,A43T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.224,-2.146,0.922,,,,,,11.228,11.228,62.42,0.0023179,0,0.091668,0.969492
23,Q9HC77,E,G,151,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.35,0.01,0,0.001,0,0.001,,,,0.001,10775,29022,ENSG00000151849,ENST00000381884,CCDS9310.1,CENPJ,0.11,possibly_damaging,0.652,deleterious,0,3.67567,18.68,Q9HC77_E151G,E,G,151,EG,E151G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-0.985,-2.393,1.408,,,,,,8.917,8.917,9.79,0.000320712,0,0.0126835,0.859791
81,Q96QU1,G,S,380,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.35,0.01,0.234,0.442,0.128,0.21,0.09,0.19,0.48,0.13,605339,201271,ENSG00000150275,ENST00000437009,,PCDH15,0.2,benign,0.004,tolerated,0.9,0.328284,5.78,Q96QU1_G380S,G,S,380,GS,G380S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-3.165,-2.489,-0.676,,,,,,18.066,18.066,28.54,,,,0.957095
330,P02768,R,Q,24,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.35,0.05,,,,,,,,,90,4422,ENSG00000163631,ENST00000509063,,ALB,0.04,probably_damaging,0.985,deleterious,0,4.84822,27.6,P02768_R24Q,R,Q,24,RQ,R24Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.785,-2.414,0.629,,,,,,9.485,9.485,73.4,0.00146482,0.0017094,0.0579306,1.00786
331,P02768,R,P,24,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.35,0.05,,,,,,,,,90,4422,ENSG00000163631,ENST00000509063,,ALB,0.04,probably_damaging,0.994,deleterious,0,4.16794,21.6,P02768_R24P,R,P,24,RP,R24P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.785,-2.909,1.124,,,,,,27.214,27.214,73.4,0.00146482,0.0017094,0.0579306,0.942866
332,P02768,R,L,24,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.35,0.05,,,,,,,,,90,4422,ENSG00000163631,ENST00000509063,,ALB,0.04,probably_damaging,0.95,deleterious,0,4.46511,23.9,P02768_R24L,R,L,24,RL,R24L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.785,-3.261,1.476,,,,,,12.825,12.825,73.4,0.00146482,0.0017094,0.0579306,0.948392
399,O15118,I,V,858,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.35,0.03,0.443,0.388,0.471,0.5,0.64,0.56,0.36,0.47,19863,750,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.67,benign,0.056,tolerated,0.17,3.32136,17.17,O15118_I858V,I,V,858,IV,I858V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.834,-1.849,0.015,,,,,,20.898,20.898,77.54,0.000904868,0,0.0357856,1.02775
298,P11310,K,E,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.03,0.005,0.001,0.007,0.002,,,,0.01,10710,48,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.78,benign,0.188,tolerated,0.26,3.18924,16.68,P11310_K329E,K,E,329,KE,K329E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.265,-2.725,1.46,0.208,H,A,1.3,-1.14,,,,0.00605481,0,0.206482,0.670075
625,P47712,S,P,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,39878,45067,ENSG00000116711,ENST00000442353,,PLA2G4A,0.16,benign,0.257,tolerated,0.09,1.96217,12.52,P47712_S111P,S,P,111,SP,S111P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.838,-3.615,1.777,0.488,G,A,0.25,1.29,1.691,,85.05,0.00106571,0,0.036343,0.963606
639,Q8IZT6,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.35,0.03,,,,,,,,,45216,5797,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,,,,,,4.83553,27.5,Q8IZT6_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
641,Q8IZT6,Y,X,3263,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.01,,,,,,,,,44909,6104,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.94,,,,,18.0856,51,Q8IZT6_Y3263X,Y,X,3263,YX,Y3263X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
657,Q8IZT6,R,X,1271,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.04,,,,,,,,,13171,37842,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.37,,,,,11.7747,45,Q8IZT6_R1271X,R,X,1271,RX,R1271X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
658,Q8IZT6,E,X,1266,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.04,,,,,,,,,13156,37857,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.36,,,,,12.1612,46,Q8IZT6_E1266X,E,X,1266,EX,E1266X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
664,Q8IZT6,R,X,1019,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.04,,,,,,,,,10072,40941,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.29,,,,,10.468,43,Q8IZT6_R1019X,R,X,1019,RX,R1019X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
764,Q99698,Y,X,2026,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.03,,,,,,,,,100799,6863,ENSG00000143669,ENST00000389793,CCDS31062.1,LYST,0.53,,,,,12.1302,46,Q99698_Y2026X,Y,X,2026,YX,Y2026X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
809,P23771,R,S,352,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,15348,318,ENSG00000107485,ENST00000346208,CCDS7083.1,GATA3,0.79,probably_damaging,0.991,deleterious,0,3.17782,16.63,P23771_R352S,R,S,352,RS,R352S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.398,-3.121,1.723,,,,,,,,,0.0047557,0,0.162179,0.839509
827,Q8NEV4,Y,X,1043,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.03,,,,,,,,,2887,110,ENSG00000095777,ENST00000265944,CCDS7148.1,MYO3A,0.65,,,,,8.9021,41,Q8NEV4_Y1043X,Y,X,1043,YX,Y1043X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
1003,P51160,Y,N,323,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.04,,,,,,,,,14079,39344,ENSG00000095464,ENST00000371447,CCDS7429.1,PDE6C,0.38,probably_damaging,0.97,deleterious,0,4.68211,25.9,P51160_Y323N,Y,N,323,YN,Y323N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,-1.181,-3.675,2.494,,,,,,,,,0.000985721,0,0.0336151,0.71191
1701,P49959,N,S,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.03,,,,,,,,,14085,18,ENSG00000020922,ENST00000393241,,MRE11A,0.17,probably_damaging,0.99,deleterious,0,4.85805,27.7,P49959_N117S,N,S,117,NS,N117S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.162,-2.713,1.551,0.419,.,B,0.34,0.22,,,,0.00112529,0,0.0383747,0.918813
1739,Q13315,F,C,2827,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.03,,,,,,,,,718,5645,ENSG00000149311,ENST00000278616,CCDS31669.1,ATM,0.93,probably_damaging,0.999,deleterious,0,4.62882,25.3,Q13315_F2827C,F,C,2827,FC,F2827C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.149,-4.679,3.53,,,,,,,,,,,,0.721932
2395,Q9Y287,X,R,161,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.35,0.05,,,,,,,,,85,167,ENSG00000136156,ENST00000378549,,ITM2B,1,,,,,2.28819,13.61,Q9Y287_X161R,X,R,161,XR,X161R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,,,,0.934274
2412,Q5TBB1,W,L,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0,,,,,,,,,559,13828,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.23,probably_damaging,1,deleterious,0,4.40926,23.4,Q5TBB1_W73L,W,L,73,WL,W73L,Hydrophobic,Hydrophobic,5.89,9.71,3.82,204,131,-73,227.8,166.7,-61.1,61,-1.111,-3.175,2.064,0.005,E,B,0.08,-1.62,,,,0.00170671,0,0.0582022,0.619775
2457,Q92915,F,S,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0,,,,,,,,,189861,3954,ENSG00000102466,ENST00000376143,CCDS9501.1,FGF14,0.59,probably_damaging,1,deleterious,0,4.6066,25.1,Q92915_F145S,F,S,145,FS,F145S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.524,-3.292,1.768,0.006,E,B,0.85,-0.96,,,,0.00483387,0,0.164845,0.640916
2471,P49917,A,V,3,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.05,0.038,0.012,0.051,0.06,0.09,0.06,0.01,0.06,3522,3044,ENSG00000174405,ENST00000405925,CCDS9508.1,LIG4,0,benign,0.041,deleterious,0.01,2.73252,15.1,P49917_A3V,A,V,3,AV,A3V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.455,-3.111,1.656,,,,,,6.062,,87.05,0.000641089,0,0.0218624,0.970635
2793,Q7Z699,R,X,96,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.04,,,,,,,,,69201,3982,ENSG00000166068,ENST00000561317,,SPRED1,0.73,,,,,4.99064,29.3,Q7Z699_R96X,R,X,96,RX,R96X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3255,Q86YC2,Q,X,921,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.01,,,,,,,,,13854,11,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.78,,,,,7.61996,39,Q86YC2_Q921X,Q,X,921,QX,Q921X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00209394,0,0.0714076,0.963541
3312,Q68CZ1,A,P,695,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.04,,,,,,,,,7290,848,ENSG00000103494,ENST00000563746,,RPGRIP1L,0.54,probably_damaging,0.954,deleterious,0.02,3.43648,17.63,Q68CZ1_A695P,A,P,695,AP,A695P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.539,-3.699,2.16,0.291,E,b,0.52,0,1.674,,63.04,0.000659657,0,0.0224957,0.753387
3589,P21359,L,P,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,14045,4779,ENSG00000196712,ENST00000456735,,NF1,0.07,probably_damaging,0.999,deleterious,0,4.3098,22.6,P21359_L174P,L,P,174,LP,L174P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
3600,P21359,E,X,1570,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.01,,,,,,,,,130,1446,ENSG00000196712,ENST00000456735,,NF1,0.63,,,,,11.0415,44,P21359_E1570X,E,X,1570,EX,E1570X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
3873,Q9BX63,M,I,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.03,,,,,,,,,53052,123716,ENSG00000136492,ENST00000259008,CCDS11631.1,BRIP1,0.24,benign,0.085,tolerated,0.06,2.32575,13.73,Q9BX63_M299I,M,I,299,MI,M299I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.812,-3.086,1.274,,,,,,8.137,,49.56,0.000772772,0,0.0263531,0.96328
4100,Q7RTS9,E,K,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,32249,54,ENSG00000141627,ENST00000583353,,DYM,0.79,,,,,3.01595,16.06,Q7RTS9_E87K,E,K,87,EK,E87K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.423,-2.737,1.314,,,,,,7.727,,63.98,0.000858345,0,0.0292713,0.957304
4121,O43520,D,N,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.07,0.002,0.001,0.003,0.004,,,0.01,0.003,25247,60132,ENSG00000081923,ENST00000283684,CCDS11965.1,ATP8B1,0.06,probably_damaging,0.922,tolerated,0.22,2.86633,15.55,O43520_D70N,D,N,70,DN,D70N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.324,-1.938,0.614,,,,,,27.216,27.216,85.93,0.000985417,0,0.0336048,1.01818
4558,P40939,V,D,282,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.03,,,,,,,,,578,2419,ENSG00000084754,ENST00000380649,CCDS1721.1,HADHA,0.37,possibly_damaging,0.535,deleterious,0,4.42142,23.5,P40939_V282D,V,D,282,VD,V282D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.571,-3.759,2.188,,,,,,1.68,,92.4,0.00200175,0,0.0682637,0.870908
4622,Q9UBP0,S,R,445,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.03,,,,,,,,,73183,20747,ENSG00000021574,ENST00000315285,CCDS1778.1,SPAST,0.72,probably_damaging,1,deleterious,0,3.6669,18.64,Q9UBP0_S445R,S,R,445,SR,S445R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.348,-3.443,2.095,0.392,G,a,0.93,0.01,,,,0.000671709,0,0.0229067,0.812915
4666,Q8NI22,I,T,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0,,,,,,,,,3576,31,ENSG00000180398,ENST00000409800,CCDS54354.1,MCFD2,0.89,probably_damaging,0.915,deleterious,0,4.0138,20.6,Q8NI22_I84T,I,T,84,IT,I84T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,,,,0.951663
4679,P22888,S,Y,589,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0,,,,,,,,,18153,281,ENSG00000138039,ENST00000405626,,LHCGR,0.88,probably_damaging,0.999,deleterious,0,4.02331,20.6,P22888_S589Y,S,Y,589,SY,S589Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,,,,,,,,,,,,0.00106753,0,0.0364048,0.900072
4686,P22888,D,G,537,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.03,,,,,,,,,18309,437,ENSG00000138039,ENST00000405626,,LHCGR,0.8,probably_damaging,0.999,deleterious,0,3.8779,19.71,P22888_D537G,D,G,537,DG,D537G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00177962,0,0.0606886,0.954417
4687,P22888,R,X,527,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.03,,,,,,,,,18340,468,ENSG00000138039,ENST00000405626,,LHCGR,0.78,,,,,4.99299,29.3,P22888_R527X,R,X,527,RX,R527X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00082853,0,0.0282546,0.977351
4689,P22888,C,R,516,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,18373,501,ENSG00000138039,ENST00000405626,,LHCGR,0.77,probably_damaging,0.999,deleterious,0,3.45302,17.69,P22888_C516R,C,R,516,CR,C516R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.000747752,0,0.0254999,0.968092
4690,P22888,I,L,515,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,18376,504,ENSG00000138039,ENST00000405626,,LHCGR,0.77,probably_damaging,0.986,deleterious,0,3.51361,17.95,P22888_I515L,I,L,515,IL,I515L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,0.000972029,0,0.0331482,0.933711
4883,Q15858,R,C,996,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,0.001,,0.003,,,39026,29054,ENSG00000169432,ENST00000409672,CCDS46441.1,SCN9A,0.5,benign,0.046,tolerated,0.19,-0.029986,3.86,Q15858_R996C,R,C,996,RC,R996C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
5080,Q13618,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.35,0.01,,,,,,,,,674,659,ENSG00000036257,ENST00000344951,,CUL3,,,,,,4.10194,21.1,Q13618_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5114,Q6Y7W6,N,S,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.04,0,0,0,,,,,,44319,8496,ENSG00000204120,ENST00000423659,,GIGYF2,0.08,benign,0.005,deleterious,0.04,3.13142,16.47,Q6Y7W6_N56S,N,S,56,NS,N56S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.709,-2.188,0.479,,,,,,16.558,16.558,93.69,0.000541674,0,0.0184722,1.01197
5115,O60928,R,W,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.05,,,,,,,,,688,309,ENSG00000115474,ENST00000410029,CCDS2498.1,KCNJ13,0.45,probably_damaging,0.992,deleterious,0,3.65693,18.59,O60928_R162W,R,W,162,RW,R162W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,0.00150241,0,0.0512352,0.717087
6517,P30968,L,X,314,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0,,,,,,,,,8382,46,ENSG00000109163,ENST00000226413,CCDS3517.1,GNRHR,0.96,,,,,4.76038,26.7,P30968_L314X,L,X,314,LX,L314X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.0119012,0,0.405854,0.920768
6530,P02768,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.35,0.05,0,0,0,,,,,,99,4413,ENSG00000163631,ENST00000509063,,ALB,,,,,,2.10258,12.99,P02768_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6599,Q8IWZ6,T,I,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.04,,,,,,,,,4234,641,ENSG00000138686,ENST00000264499,CCDS3724.1,BBS7,0.3,probably_damaging,0.985,deleterious,0.01,5.11105,32,Q8IWZ6_T211I,T,I,211,TI,T211I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.245,-3.296,2.051,,,,,,,,,0.000987684,0,0.0336821,0.780567
6779,P10912,C,X,101,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.01,,,,,,,,,129097,24839,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.16,,,,,4.93659,28.6,P10912_C101X,C,X,101,CX,C101X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000579929,0,0.0197768,0.980504
6841,P29120,G,R,483,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0,,,,,,,,,13966,6093,ENSG00000175426,ENST00000311106,CCDS4081.1,PCSK1,0.64,benign,0.022,tolerated,0.29,3.07463,16.27,P29120_G483R,G,R,483,GR,G483R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.176,-3.57,2.394,,,,,,4.175,,84.2,0.00157594,0,0.0537428,0.858941
6845,Q8NI36,A,T,449,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,0.004,0,0.005,0.003,,0.003,,0.01,13820,5413,ENSG00000134987,ENST00000513710,CCDS4102.1,WDR36,0.47,benign,0.259,deleterious,0.02,3.67701,18.69,Q8NI36_A449T,A,T,449,AT,A449T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.378,-2.934,1.556,,,,,,5.907,,71.92,0.00169682,0,0.057865,1.05162
6853,P25054,R,X,564,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.05,,,,,,,,,84,1036,ENSG00000134982,ENST00000257430,CCDS4107.1,APC,0.2,,,,,7.92177,40,P25054_R564X,R,X,564,RX,R564X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6983,Q92629,R,X,164,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.01,,,,,,,,,268285,163015,ENSG00000170624,ENST00000435422,CCDS47327.1,SGCD,0.57,,,,,6.37316,37,Q92629_R164X,R,X,164,RX,R164X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00355707,0,0.121304,0.951177
7210,Q9NRA2,P,R,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,38549,15002,ENSG00000119899,ENST00000355773,CCDS4981.1,SLC17A5,0.67,probably_damaging,0.999,deleterious,0,2.97263,15.91,Q9NRA2_P334R,P,R,334,PR,P334R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.707,-4.125,3.418,,,,,,1.568,,39.8,0.000930002,0,0.031715,0.825546
7216,Q9UM54,R,X,849,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.03,,,,,,,,,69358,29732,ENSG00000196586,ENST00000369985,,MYO6,0.67,,,,,7.81012,39,Q9UM54_R849X,R,X,849,RX,R849X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000540862,0,0.0184445,0.977351
7220,P21953,V,G,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.03,,,,,,,,,61024,2184,ENSG00000083123,ENST00000369760,,BCKDHB,0.55,probably_damaging,0.993,deleterious,0,3.31288,17.14,P21953_V119G,V,G,119,VG,V119G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.219,-3.664,2.445,,E,b,0.73,-0.7,5.238,,80.1,0.00305959,0,0.104338,0.586792
7740,Q9UGJ0,T,N,400,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.03,,,,,,,,,6202,13,ENSG00000106617,ENST00000287878,CCDS5928.1,PRKAG2,0.7,probably_damaging,0.99,deleterious,0.01,4.99037,29.3,Q9UGJ0_T400N,T,N,400,TN,T400N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,-1.245,-3.183,1.938,0.158,.,B,0.39,-1.01,,,,0.00110788,0,0.0377811,0.708739
7891,Q99502,L,R,471,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,83639,26,ENSG00000104313,ENST00000388741,,EYA1,0.84,probably_damaging,1,deleterious,0,4.29587,22.5,Q99502_L471R,L,R,471,LR,L471R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.0012658,0,0.0431662,0.902375
7902,Q8TB36,Q,E,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0,,,,,,,,,60,1019,ENSG00000104381,ENST00000434412,CCDS47877.1,GDAP1,0.52,benign,0.363,tolerated,0.3,2.77442,15.24,Q8TB36_Q150E,Q,E,150,QE,Q150E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,,,,,,,,,,,,0.00165954,0,0.0565938,0.927983
7930,Q7Z7G8,R,X,502,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.05,,,,,,,,,122408,74114,ENSG00000132549,ENST00000355155,CCDS6283.1,VPS13B,0.58,,,,,5.8806,36,Q7Z7G8_R502X,R,X,502,RX,R502X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8076,Q9Y223,A,V,460,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0,,,,,,,,,25992,6216,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.64,possibly_damaging,0.766,deleterious,0.01,4.86186,27.8,Q9Y223_A460V,A,V,460,AV,A460V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.466,-3.074,1.608,,,,,,2.134,,86.85,0.000349091,0,0.0119047,0.968862
8082,Q9Y223,D,N,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,12469,19739,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.31,benign,0.009,tolerated,0.16,3.75449,19.06,Q9Y223_D225N,D,N,225,DN,D225N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.264,-2.905,1.641,,,,,,,,,0.00124455,0,0.0424416,0.841901
8176,P23025,R,X,207,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.03,,,,,,,,,12317,16,ENSG00000136936,ENST00000375128,CCDS6729.1,XPA,0.76,,,,,2.81763,15.38,P23025_R207X,R,X,207,RX,R207X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00385645,0,0.131513,0.951177
8411,P46019,D,G,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.05,,,,,,,,,44582,47717,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.24,possibly_damaging,0.848,deleterious,0,4.95601,28.9,P46019_D299G,D,G,299,DG,D299G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.806,-3.214,2.408,,,,,,5.723,,73.04,0.000229413,0,0.00782346,0.857331
8494,P11532,Q,X,2125,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.03,,,,,,,,,911380,284865,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.58,,,,,14.2444,48,P11532_Q2125X,Q,X,2125,QX,Q2125X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8498,P11532,Q,X,1851,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.01,,,,,,,,,2533,3347,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.5,,,,,14.4101,48,P11532_Q1851X,Q,X,1851,QX,Q1851X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8577,P00480,M,T,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.04,,,,,,,,,14775,36288,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.16,possibly_damaging,0.757,deleterious,0,3.50684,17.92,P00480_M56T,M,T,56,MT,M56T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.476,-2.976,0.5,,H,A,0.77,-0.27,9.864,9.864,92.66,0.00516001,0,0.175967,0.854779
8578,P00480,L,Q,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.04,,,,,,,,,14778,36285,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.16,probably_damaging,1,deleterious,0,3.93649,20.1,P00480_L57Q,L,Q,57,LQ,L57Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.356,-4.497,3.141,0.007,H,A,1.19,-0.82,1.38,,44.92,0.00485588,0,0.165595,0.544086
8619,P00480,L,P,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.04,,,,,,,,,28770,22293,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.31,probably_damaging,1,deleterious,0,3.94695,20.2,P00480_L111P,L,P,111,LP,L111P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.948,-4.3,3.352,0.248,E,B,1.07,-0.12,1.068,,37.85,0.0025404,0,0.086633,0.620364
8633,P00480,L,S,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,84,2388,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.37,probably_damaging,1,deleterious,0,4.2056,21.8,P00480_L131S,L,S,131,LS,L131S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.229,-3.878,2.649,0.161,H,A,0.82,-0.21,3.809,,51.41,0.00399857,0,0.136359,0.586297
8634,P00480,S,P,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,82,2386,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.37,probably_damaging,0.996,deleterious,0,4.50749,24.2,P00480_S132P,S,P,132,SP,S132P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.083,-3.965,2.882,0.144,H,A,0.25,-0.02,1.264,,45.48,0.00328798,0,0.112127,0.641717
8635,P00480,S,F,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.01,,,,,,,,,81,2385,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.37,probably_damaging,0.999,deleterious,0,4.60973,25.2,P00480_S132F,S,F,132,SF,S132F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.083,-4.394,3.311,0.144,H,A,0.85,-0.02,0.981,,45.48,0.00328798,0,0.112127,0.586116
8858,Q2M3X9,E,X,118,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0,,,,,,,,,22382,66,ENSG00000251192,ENST00000523374,CCDS48099.1,ZNF674,0.2,,,,,2.49894,14.32,Q2M3X9_E118X,E,X,118,EX,E118X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
9079,P46100,N,S,1822,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0,0.006,0.001,0.01,0.004,,0.004,,0.01,204,817,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.74,benign,0,,,0.308668,5.672,P46100_N1822S,N,S,1822,NS,N1822S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,,,,0.952307
9084,P46100,C,R,1576,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.35,0.04,,,,,,,,,2378,744,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.64,possibly_damaging,0.847,,,3.35575,17.3,P46100_C1576R,C,R,1576,CR,C1576R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,,,,0.743173
9090,P46100,R,X,37,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.01,,,,,,,,,89,23444,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.02,,,,,7.5641,39,P46100_R37X,R,X,37,RX,R37X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9444,P29400,R,X,1683,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.04,,,,,,,,,3527,414,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,1,,,,,13.51,47,P29400_R1683X,R,X,1683,RX,R1683X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0153687,0,0.524106,0.933515
9474,P13473,Q,X,63,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0,,,,,,,,,63,10217,ENSG00000005893,ENST00000538785,,LAMP2,0.21,,,,,6.75029,38,P13473_Q63X,Q,X,63,QX,Q63X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
9598,P00740,R,X,260,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.35,0.04,,,,,,,,,30812,495,ENSG00000101981,ENST00000394090,,F9,0.61,,,,,3.99372,20.5,P00740_R260X,R,X,260,RX,R260X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00295937,0,0.100921,0.951177
25,Q9HC77,P,A,55,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.03,0.031,0.088,0.001,0.02,,0.01,0.1,,9974,29823,ENSG00000151849,ENST00000381884,CCDS9310.1,CENPJ,0.04,benign,0.186,tolerated,0.14,0.284638,5.541,Q9HC77_P55A,P,A,55,PA,P55A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.364,-2.542,1.178,,,,,,8.59,1.061,78.62,0.000242623,0,0.00959522,0.979437
96,Q8WXG9,S,L,2764,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.04,0.046,0.012,0.061,0.07,0.13,0.02,0.01,0.08,10333,55590,ENSG00000164199,ENST00000405460,CCDS47246.1,GPR98,0.44,benign,0.003,tolerated,0.18,-0.116003,3.431,Q8WXG9_S2764L,S,L,2764,SL,S2764L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-2.188,-2.893,0.705,,,,,,33.353,33.353,88.82,,,,0.959092
114,Q8IZT6,Q,H,2620,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0,0.051,0.013,0.07,0.03,0.002,0.04,0.002,0.07,33754,17259,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.75,benign,0.004,tolerated,0.11,1.14692,9.672,Q8IZT6_Q2620H,Q,H,2620,QH,Q2620H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-2.354,-3.059,0.705,,,,,,24.651,24.651,92.15,,,,0.984735
119,Q8IZT6,Y,H,2494,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.01,0.996,0.999,0.994,1,1,0.99,1,0.99,33374,17639,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.72,benign,0.001,tolerated,1,-1.06079,0.183,Q8IZT6_Y2494H,Y,H,2494,YH,Y2494H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-2.222,-1.978,-0.244,,,,,,32.624,32.624,8.71,,,,0.935777
137,Q15468,H,R,985,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.01,,,,,,,,,23662,8,ENSG00000123473,ENST00000337817,CCDS548.1,STIL,0.77,benign,0.075,tolerated,0.08,0.953724,8.89,Q15468_H985R,H,R,985,HR,H985R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-2.872,-3.126,0.254,,,,,,5.63,3.101,36.21,0.00123889,0,0.0489953,0.974874
201,P35670,R,K,522,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.04,0.572,0.521,0.595,0.52,0.4,0.6,0.5,0.59,12244,8601,ENSG00000123191,ENST00000400370,,ATP7B,0.5,,,tolerated,1,1.51146,11,P35670_R522K,R,K,522,RK,R522K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,,,,,,,,,,,,0.000688989,0,0.027248,1.00105
220,P28335,C,S,23,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.03,0.235,0.341,0.175,0.17,0.01,0.1,0.41,0.16,147180,177336,ENSG00000147246,ENST00000371950,,HTR2C,0.09,benign,0.017,deleterious,0,1.14252,9.655,P28335_C23S,C,S,23,CS,C23S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-2.526,-3.449,0.923,,,,,,2.98,,93.23,0.000631357,0,0.0249688,0.964776
324,P02768,E,K,400,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.01,,,,,,,,,2688,867,ENSG00000163631,ENST00000509063,,ALB,0.66,benign,0.009,tolerated,0.28,1.33398,10.38,P02768_E400K,E,K,400,EK,E400K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.73,-2.124,0.394,0.503,H,A,1.3,0.71,21.838,21.838,78.82,0.00279554,0,0.110557,0.941168
325,P02768,E,Q,400,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.01,,,,,,,,,2688,867,ENSG00000163631,ENST00000509063,,ALB,0.66,benign,0.006,tolerated,0.31,0.717793,7.821,P02768_E400Q,E,Q,400,EQ,E400Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-1.73,-2.838,1.108,0.503,H,A,0.4,0.71,16.44,16.44,78.82,0.00279554,0,0.110557,0.936367
336,P02768,V,M,557,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.04,0,0,0,0.001,,,,0.004,25,23,ENSG00000163631,ENST00000509063,,ALB,0.92,possibly_damaging,0.684,tolerated,0.09,2.31255,13.69,P02768_V557M,V,M,557,VM,V557M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.191,-3.04,1.849,0.017,H,A,0.11,-0.83,6.596,6.596,81.28,0.00459383,0,0.181676,0.853422
379,O75445,L,F,1572,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.03,0.001,0,0.002,0.001,,,,0.001,326270,474233,ENSG00000042781,ENST00000366943,,USH2A,0.3,possibly_damaging,0.824,deleterious,0.01,3.9347,20.1,O75445_L1572F,L,F,1572,LF,L1572F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,,,,0.961576
397,O43511,N,Y,324,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.36,0.01,0.009,0.027,0,0.01,,0.003,0.04,,22871,34304,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.42,probably_damaging,0.993,deleterious,0.01,3.83057,19.45,O43511_N324Y,N,Y,324,NY,N324Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-2.012,-3.763,1.751,,,,,,10.132,10.132,89.1,0.00175803,0,0.0695262,0.944624
226,Q9NR50,A,V,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,8238,8361,ENSG00000070785,ENST00000360403,CCDS517.1,EIF2B3,0.19,probably_damaging,0.947,tolerated,0.07,5.29262,34,Q9NR50_A87V,A,V,87,AV,A87V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.242,-2.919,1.677,,,,,,4.969,,69.47,0.00164703,0,0.056167,0.950684
281,Q16518,P,T,363,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,11732,9406,ENSG00000116745,ENST00000262340,CCDS643.1,RPE65,0.68,benign,0.349,deleterious,0.04,3.81496,19.37,Q16518_P363T,P,T,363,PT,P363T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.115,-3.157,2.042,0.038,E,B,0.3,-0.46,,,,0.00328701,0,0.112094,0.665327
301,Q0ZGT2,Y,C,552,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,0,0,0,,,,,,1045,3,ENSG00000162614,ENST00000342754,,NEXN,0.96,probably_damaging,0.999,deleterious,0,3.91443,19.91,Q0ZGT2_Y552C,Y,C,552,YC,Y552C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
323,Q12882,R,H,886,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,2675,20855,ENSG00000188641,ENST00000370192,CCDS30777.1,DPYD,0.86,probably_damaging,0.984,deleterious,0,4.24869,22.1,Q12882_R886H,R,H,886,RH,R886H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.543,-2.21,0.667,0.038,H,A,1.03,0.25,23.453,23.453,66.24,0.00187828,0,0.0640533,0.886288
325,P35573,R,X,864,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,23402,39409,ENSG00000162688,ENST00000370163,CCDS759.1,AGL,0.56,,,,,9.0078,41,P35573_R864X,R,X,864,RX,R864X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
567,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.36,0.01,,,,0.43,0.23,0.37,0.86,0.34,657,8517,,ENSR00000547694,,,,,,,,-0.556339,1.484,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
570,Q6PI48,S,G,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,2033,31853,ENSG00000117593,ENST00000361951,CCDS1311.1,DARS2,0.07,benign,0.055,deleterious,0.02,3.12634,16.45,Q6PI48_S45G,S,G,45,SG,S45G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-1.683,-3.318,1.635,,,,,,5.64,,88.06,0.00144486,0.00166667,0.0492726,0.969122
572,Q6PI48,R,X,263,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,13547,20339,ENSG00000117593,ENST00000361951,CCDS1311.1,DARS2,0.41,,,,,10.8639,44,Q6PI48_R263X,R,X,263,RX,R263X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00266867,0,0.0910071,0.951177
577,P01008,P,L,461,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,13477,93,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.99,probably_damaging,0.999,deleterious,0,4.54427,24.6,P01008_P461L,P,L,461,PL,P461L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.147,-3.149,2.002,0.023,.,A,1.07,0.33,7.984,,61.42,0.00223951,0,0.0763718,0.700226
637,P05160,C,F,450,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,11548,16529,ENSG00000143278,ENST00000367412,CCDS1388.1,F13B,0.68,probably_damaging,1,deleterious,0,4.05001,20.8,P05160_C450F,C,F,450,CF,C450F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.111,-3.923,2.812,,,,,,,,,0.000957105,0,0.0326393,0.718136
647,Q8IZT6,R,X,3107,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,43113,7900,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.89,,,,,16.6647,50,Q8IZT6_R3107X,R,X,3107,RX,R3107X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
648,Q8IZT6,K,X,3080,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,42037,8976,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.89,,,,,15.4268,49,Q8IZT6_K3080X,K,X,3080,KX,K3080X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
649,Q8IZT6,R,X,3064,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,41989,9024,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.88,,,,,17.9002,51,Q8IZT6_R3064X,R,X,3064,RX,R3064X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
651,Q8IZT6,L,X,2758,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,34167,16846,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.79,,,,,16.2394,50,Q8IZT6_L2758X,L,X,2758,LX,L2758X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
654,Q8IZT6,Y,X,1712,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,0,0,0,,,,,,31030,19983,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.49,,,,,11.6798,45,Q8IZT6_Y1712X,Y,X,1712,YX,Y1712X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
761,Q99698,N,S,3376,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,3294,1,ENSG00000143669,ENST00000389793,CCDS31062.1,LYST,0.89,probably_damaging,0.999,deleterious,0,4.2506,22.1,Q99698_N3376S,N,S,3376,NS,N3376S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.224,-2.026,0.802,,,,,,15.894,15.894,72.27,,,,0.996518
771,Q99698,Q,X,1029,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,60870,14478,ENSG00000143669,ENST00000536965,,LYST,0.74,,,,,9.41752,42,Q99698_Q1029X,Q,X,1029,QX,Q1029X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
789,Q92736,R,C,4481,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,406,41318,ENSG00000198626,ENST00000542537,,RYR2,0.91,probably_damaging,0.98,deleterious,0,4.05201,20.8,Q92736_R4481C,R,C,4481,RC,R4481C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
798,P07954,R,X,101,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,4,1,ENSG00000091483,ENST00000366560,CCDS1617.1,FH,0.2,,,,,5.16524,32,P07954_R101X,R,X,101,RX,R101X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00391215,0,0.133413,0.951177
869,Q96QU1,S,X,625,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,711148,95462,ENSG00000150275,ENST00000395433,CCDS44401.1,PCDH15,0.32,,,,,7.96004,40,Q96QU1_S625X,S,X,625,SX,S625X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
982,P60484,E,X,157,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,7705,260,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.39,,,,,14.3887,48,P60484_E157X,E,X,157,EX,E157X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00269182,0,0.0917966,0.953272
983,P60484,S,R,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,65,9175,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.42,probably_damaging,1,deleterious,0,4.14092,21.4,P60484_S170R,S,R,170,SR,S170R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.519,-3.39,1.871,,,,,,,,,0.00103933,0,0.0354431,0.81391
992,P25445,G,A,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,22739,5,ENSG00000026103,ENST00000357339,CCDS7394.1,FAS,0.72,benign,0.001,tolerated,0.11,0.740821,7.932,P25445_G226A,G,A,226,GA,G226A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,,,,,,,,,,,,0.00280757,0,0.095744,0.96467
1008,O95970,L,P,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,35286,4951,ENSG00000108231,ENST00000542308,,LGI1,0.36,probably_damaging,0.985,deleterious,0,4.22112,21.9,O95970_L184P,L,P,184,LP,L184P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,,,,0.763152
1009,O95970,F,C,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,39161,1076,ENSG00000108231,ENST00000542308,,LGI1,0.53,probably_damaging,0.999,deleterious,0,3.35673,17.31,O95970_F270C,F,C,270,FC,F270C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,,,,,,,,,,,,,,,0.899522
1014,Q9P212,Q,X,1616,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,379,679,ENSG00000138193,ENST00000260766,CCDS41552.1,PLCE1,0.7,,,,,15.5121,49,Q9P212_Q1616X,Q,X,1616,QX,Q1616X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1017,P33261,W,X,212,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,0,0,0,0.01,0.05,,0.004,,18029,72421,ENSG00000165841,ENST00000371321,CCDS7436.1,CYP2C19,0.43,,,,,3.26216,16.95,P33261_W212X,W,X,212,WX,W212X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00157874,0,0.0538383,0.881419
1075,P21802,A,T,537,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,27085,4377,ENSG00000066468,ENST00000336553,,FGFR2,0.8,probably_damaging,0.993,deleterious,0,5.44981,35,P21802_A537T,A,T,537,AT,A537T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000505501,0,0.0172386,0.995499
1203,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.36,0,,,,,,,,,992,177,,ENSR00000317286,,,,,,,,-0.445053,1.935,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1259,P28347,Y,H,352,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,57759,833,ENSG00000187079,ENST00000334310,,TEAD1,0.99,probably_damaging,0.999,deleterious,0,3.82806,19.44,P28347_Y352H,Y,H,352,YH,Y352H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,,,,0.949803
1695,P14679,G,S,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,1157,10385,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.84,probably_damaging,0.997,deleterious,0,4.90152,28.2,P14679_G446S,G,S,446,GS,G446S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.646,-3.258,2.612,,,,,,2.759,,80.53,0.000396378,0,0.0135173,0.861837
1700,P49959,W,C,210,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,17493,1102,ENSG00000020922,ENST00000393241,,MRE11A,0.3,probably_damaging,1,deleterious,0,4.24012,22.1,P49959_W210C,W,C,210,WC,W210C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.198,-4.639,3.441,0.046,E,B,0.01,-0.84,,,,0.00135455,0,0.0461931,0.580682
1725,Q8NCM8,M,V,3762,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,0.001,0.003,0,0.001,,,0.002,,21584,174652,ENSG00000187240,ENST00000398093,CCDS44717.1,DYNC2H1,0.87,possibly_damaging,0.829,deleterious,0.01,4.15319,21.5,Q8NCM8_M3762V,M,V,3762,MV,M3762V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,,,,0.948715
1735,Q13315,E,G,2423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,1555,43,ENSG00000149311,ENST00000452508,CCDS31669.1,ATM,0.79,possibly_damaging,0.854,deleterious,0.02,5.07214,31,Q13315_E2423G,E,G,2423,EG,E2423G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.2,-3.169,1.969,,,,,,0.677,,14.4,,,,0.781422
1747,P10515,F,L,576,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,1093,460,ENSG00000150768,ENST00000280346,CCDS8354.1,DLAT,0.89,probably_damaging,0.981,deleterious,0,4.40365,23.3,P10515_F576L,F,L,576,FL,F576L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-0.848,-2.139,1.291,0.675,.,B,0.03,0,11.84,11.84,35.39,0.00099626,0,0.0339745,0.873577
1761,Q03393,N,S,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,392,840,ENSG00000150787,ENST00000280362,CCDS8359.1,PTS,0.36,probably_damaging,0.976,deleterious,0,4.42433,23.5,Q03393_N52S,N,S,52,NS,N52S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.331,-2.835,1.504,0.713,E,b,0.34,-0.37,3.494,,65.52,0.00510624,0,0.174133,0.820875
1846,O75845,Y,S,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,874,1414,ENSG00000109929,ENST00000527762,,SC5DL,0.26,probably_damaging,0.999,deleterious,0,4.81625,27.3,O75845_Y46S,Y,S,46,YS,Y46S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,-1.096,-3.428,2.332,,,,,,,,,,,,0.726324
1965,P54840,S,P,483,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,58402,10257,ENSG00000111713,ENST00000261195,CCDS8690.1,GYS2,0.69,probably_damaging,0.937,deleterious,0,3.51511,17.96,P54840_S483P,S,P,483,SP,S483P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.348,-3.39,2.042,,,,,,,,,0.00157758,0,0.0537986,0.771003
1966,P54840,P,Q,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,0,0,0,,,,,,58391,10268,ENSG00000111713,ENST00000261195,CCDS8690.1,GYS2,0.68,probably_damaging,0.953,deleterious,0,4.18565,21.7,P54840_P479Q,P,Q,479,PQ,P479Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.115,-3.635,2.52,,,,,,,,,0.00110821,0,0.0377923,0.75238
1983,P01116,K,E,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,5432,11553,ENSG00000133703,ENST00000256078,CCDS8703.1,KRAS,0.03,probably_damaging,0.994,deleterious,0,4.97512,29.1,P01116_K5E,K,E,5,KE,K5E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.71,-2.593,0.883,0.401,E,B,1.3,0.51,,,,0.00523971,0,0.178685,0.839285
1988,O00429,A,D,395,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,352,57,ENSG00000087470,ENST00000266481,CCDS8728.1,DNM1L,0.57,probably_damaging,0.993,deleterious,0,4.59718,25,O00429_A395D,A,D,395,AD,A395D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-0.964,-3.67,2.706,,,,,,1.917,,40.9,0.000432926,0,0.0147637,0.835956
2182,O60938,N,S,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,0,0,0,,,,,,2442,5051,ENSG00000139330,ENST00000266719,CCDS9037.1,KERA,0.7,probably_damaging,0.996,deleterious,0,3.94806,20.2,O60938_N247S,N,S,247,NS,N247S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.079,-2.753,1.674,,,,,,,,,0.000973489,0,0.033198,0.844353
2277,Q06124,N,S,308,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,58806,9204,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.52,possibly_damaging,0.812,tolerated,0.18,4.51397,24.3,Q06124_N308S,N,S,308,NS,N308S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.572,-2.797,1.225,,E,B,0.34,-0.95,4.214,,80.61,0.00126949,0,0.0432921,0.778422
2366,Q9NZJ4,W,R,2498,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,21350,5301,ENSG00000151835,ENST00000402364,,SACS,0.65,probably_damaging,0.997,deleterious,0,3.44284,17.65,Q9NZJ4_W2498R,W,R,2498,WR,W2498R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,,,,0.936836
2394,Q9P2R7,G,R,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,12075,631,ENSG00000136143,ENST00000378645,,SUCLA2,0.22,probably_damaging,1,deleterious,0,4.3732,23.1,Q9P2R7_G96R,G,R,96,GR,G96R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
2458,P28715,P,H,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.05,,,,,,,,,6132,1629,ENSG00000134899,ENST00000535557,,ERCC5,0.31,probably_damaging,0.997,deleterious,0,4.54505,24.6,P28715_P72H,P,H,72,PH,P72H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-0.879,-4.555,3.676,,,,,,,,,0.000154553,0,0.00527059,0.800295
2469,P49917,R,H,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,4347,2219,ENSG00000174405,ENST00000405925,CCDS9508.1,LIG4,0.31,probably_damaging,1,deleterious,0,3.53787,18.05,P49917_R278H,R,H,278,RH,R278H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.00025379,0,0.00865478,0.825058
2502,Q96KN7,W,X,65,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.05,,,,,,,,,6808,56511,ENSG00000092200,ENST00000400017,CCDS45080.1,RPGRIP1,0.05,,,,,4.81467,27.3,Q96KN7_W65X,W,X,65,WX,W65X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000307935,0,0.0105012,0.956807
2597,Q15436,F,L,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,45,2707,ENSG00000100934,ENST00000307712,CCDS9668.1,SEC23A,0.5,possibly_damaging,0.565,deleterious,0,5.18977,32,Q15436_F382L,F,L,382,FL,F382L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.524,-2.59,1.066,,,,,,,,,0.00036636,0,0.0124936,0.926081
2634,P30793,H,P,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,37098,22353,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.68,probably_damaging,0.988,deleterious,0,3.29035,17.05,P30793_H144P,H,P,144,HP,H144P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-1.311,-3.657,2.346,0.365,T,A,0.35,-0.53,,,,0.000759205,0,0.0258905,0.750582
2738,P54803,E,X,362,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,2232,120,ENSG00000054983,ENST00000393568,CCDS55936.1,GALC,0.55,,,,,5.8795,36,P54803_E362X,E,X,362,EX,E362X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
2763,Q99986,R,X,3,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,0,0,0,,,,,,4,5227,ENSG00000100749,ENST00000553683,,VRK1,0.05,,,,,5.64129,36,Q99986_R3X,R,X,3,RX,R3X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2792,Q7Z699,R,X,43,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,46349,26834,ENSG00000166068,ENST00000561317,,SPRED1,0.33,,,,,5.5953,35,Q7Z699_R43X,R,X,43,RX,R43X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3070,O15305,D,Y,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,6869,1899,ENSG00000140650,ENST00000268261,CCDS10536.1,PMM2,0.26,possibly_damaging,0.862,deleterious,0.01,4.37051,23.1,O15305_D65Y,D,Y,65,DY,D65Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.324,-4.118,2.794,0.079,S,A,0.96,-0.75,1.448,,92.28,0.0052314,0,0.178402,0.57713
3261,Q86YC2,Y,X,551,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,3043,10822,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.46,,,,,5.3658,34,Q86YC2_Y551X,Y,X,551,YX,Y551X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000656864,0,0.0224004,0.970188
3298,Q93100,Y,X,419,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,0,0,0,,,,,,4,1612,ENSG00000102893,ENST00000299167,,PHKB,0.38,,,,,6.50861,37,Q93100_Y419X,Y,X,419,YX,Y419X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000709907,0,0.0242093,0.970188
3314,Q68CZ1,T,P,615,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,7050,608,ENSG00000103494,ENST00000563746,,RPGRIP1L,0.48,benign,0.365,tolerated,0.1,2.24318,13.46,Q68CZ1_T615P,T,P,615,TP,T615P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.868,-3.713,1.845,0.374,.,B,0.3,0,2.369,,81.52,0.000522791,0,0.0178282,0.956422
3427,Q9UQ90,L,X,78,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,0,0,0,,,,,,1826,54,ENSG00000197912,ENST00000341316,CCDS10978.1,SPG7,0.16,,,,,0.814987,8.278,Q9UQ90_L78X,L,X,78,LX,L78X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.000318094,0,0.0108477,0.983881
3451,P45381,R,H,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,347,25,ENSG00000108381,ENST00000456349,CCDS11028.1,ASPA,0.23,probably_damaging,0.924,deleterious,0,5.15494,32,P45381_R71H,R,H,71,RH,R71H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,0.521,G,a,1.03,0.07,,,,0.000919192,0,0.0313463,0.789624
3454,P45381,Y,C,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,18405,4682,ENSG00000108381,ENST00000263080,CCDS11028.1,ASPA,0.74,probably_damaging,0.983,deleterious,0,3.2783,17.01,P45381_Y231C,Y,C,231,YC,Y231C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.39,-4.728,3.338,0.022,.,B,0.25,0.51,0.959,,88.5,0.00535323,0,0.182556,0.734942
3551,Q12887,P,L,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,0.001,0.002,,,,90322,47588,ENSG00000006695,ENST00000261643,CCDS11166.1,COX10,0.51,possibly_damaging,0.462,tolerated,0.29,3.59146,18.29,Q12887_P225L,P,L,225,PL,P225L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,0.00304308,0,0.103775,0.785387
3601,P21359,L,P,1953,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,4554,1754,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.69,probably_damaging,0.982,deleterious,0,4.50393,24.2,P21359_L1953P,L,P,1953,LP,L1953P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,,,,,,,,,,,,0.76393
4049,Q14126,W,X,306,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.07,,,,,,,,,26749,24217,ENSG00000046604,ENST00000261590,CCDS42423.1,DSG2,0.27,,,,,5.40559,34,Q14126_W306X,W,X,306,WX,W306X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0001746,0,0.00595421,0.956807
4051,Q14126,V,I,392,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,0.002,0.001,0.002,0,,,,,33103,17863,ENSG00000046604,ENST00000261590,CCDS42423.1,DSG2,0.35,benign,0.133,deleterious,0.03,0.612124,7.296,Q14126_V392I,V,I,392,VI,V392I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-2.125,-2.512,0.387,,,,,,20.765,20.765,80.41,0.000662736,0,0.0226007,1.01881
4106,Q13485,G,D,386,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,20117,18004,ENSG00000141646,ENST00000342988,CCDS11950.1,SMAD4,0.7,probably_damaging,0.999,deleterious,0,4.99884,29.4,Q13485_G386D,G,D,386,GD,G386D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.27,-3.15,1.88,,.,p,0.46,-0.7,3.523,,71.92,0.00100024,0,0.0341102,0.698531
4623,Q9UBP0,C,Y,448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,73191,20739,ENSG00000021574,ENST00000315285,CCDS1778.1,SPAST,0.73,probably_damaging,0.984,deleterious,0.01,4.53625,24.5,Q9UBP0_C448Y,C,Y,448,CY,C448Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,0.00239533,0,0.0816857,0.77593
4674,P43246,A,P,636,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,72041,8051,ENSG00000095002,ENST00000406134,,MSH2,0.69,possibly_damaging,0.665,tolerated,0.07,4.19233,21.7,P43246_A636P,A,P,636,AP,A636P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-2.338,-4.326,1.988,,,,,,2.279,,85.97,0.00165764,0,0.0565289,0.907791
4675,P43246,H,Y,639,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,72050,8042,ENSG00000095002,ENST00000406134,,MSH2,0.69,probably_damaging,1,deleterious,0,5.02718,29.7,P43246_H639Y,H,Y,639,HY,H639Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-0.599,-3.522,2.923,,,,,,,,,0.000372797,0,0.0127132,0.817291
4677,P52701,V,A,576,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,0.005,0.001,0.008,0.01,,,,0.01,8570,6330,ENSG00000116062,ENST00000538136,,MSH6,0.54,benign,0.055,tolerated,0.42,-1.01202,0.243,P52701_V576A,V,A,576,VA,V576A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,,,,,,,,,,,,0.000411717,0,0.0140404,0.990573
4707,P23945,I,T,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,8292,5906,ENSG00000170820,ENST00000346173,,FSHR,0.25,benign,0.354,deleterious,0,2.67272,14.9,P23945_I160T,I,T,160,IT,I160T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.54,-3.159,1.619,0.008,E,B,0.7,-0.3,4.64,,92.95,0.00137516,0,0.0468959,0.805437
4841,O60315,R,X,549,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,30485,329,ENSG00000169554,ENST00000427902,,ZEB2,0.78,,,,,5.08649,31,O60315_R549X,R,X,549,RX,R549X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000374355,0,0.0127663,0.977351
4878,Q15858,T,I,1464,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,107318,5767,ENSG00000169432,ENST00000409672,CCDS46441.1,SCN9A,0.74,probably_damaging,0.97,deleterious,0,4.39572,23.3,Q15858_T1464I,T,I,1464,TI,T1464I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,,,,0.9508
4880,Q15858,V,F,1299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,82788,30297,ENSG00000169432,ENST00000409672,CCDS46441.1,SCN9A,0.66,probably_damaging,1,deleterious,0,4.76349,26.7,Q15858_V1299F,V,F,1299,VF,V1299F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,,,,0.951705
4892,Q15858,P,Q,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,41,3912,ENSG00000169432,ENST00000375387,,SCN9A,0.08,benign,0.224,deleterious,0,2.14998,13.15,Q15858_P150Q,P,Q,150,PQ,P150Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,,,,,,,,,,,,,,,0.956049
4930,Q0ZLH3,T,I,2,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,2,6863,ENSG00000204311,ENST00000442710,,DFNB59,0.01,probably_damaging,0.982,deleterious,0,4.93276,28.6,Q0ZLH3_T2I,T,I,2,TI,T2I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,,,,0.9508
4958,Q9NP59,N,H,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,8943,723,ENSG00000138449,ENST00000261024,CCDS2299.1,SLC40A1,0.25,possibly_damaging,0.559,tolerated,0.15,4.06012,20.9,Q9NP59_N144H,N,H,144,NH,N144H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,-1.079,-3.822,2.743,,,,,,,,,0.00115502,0,0.0393886,0.740591
4967,Q9UPW6,R,X,239,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,19785,488,ENSG00000119042,ENST00000260926,CCDS2327.1,SATB2,0.33,,,,,7.07213,38,Q9UPW6_R239X,R,X,239,RX,R239X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4982,Q13873,R,X,211,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,141397,48921,ENSG00000204217,ENST00000374574,,BMPR2,0.4,,,,,5.82594,36,Q13873_R211X,R,X,211,RX,R211X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000589167,0,0.0200918,0.977351
5008,Q86UK0,D,N,2047,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,0.019,0.005,0.026,0.02,,0.01,0.004,0.05,83480,15985,ENSG00000144452,ENST00000389661,CCDS33373.1,ABCA12,0.9,benign,0.116,tolerated,0.33,2.02909,12.74,Q86UK0_D2047N,D,N,2047,DN,D2047N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
5009,Q86UK0,R,X,1886,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,78196,21269,ENSG00000144452,ENST00000389661,CCDS33373.1,ABCA12,0.83,,,,,10.3794,43,Q86UK0_R1886X,R,X,1886,RX,R1886X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5287,Q9NPJ1,T,P,325,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,19381,7358,ENSG00000125863,ENST00000399054,CCDS13111.1,MKKS,0.57,benign,0.174,tolerated,0.12,1.70941,11.68,Q9NPJ1_T325P,T,P,325,TP,T325P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-2.373,-3.859,1.486,,,,,,2.534,,87.02,0.00143064,0,0.0487876,0.973436
5343,Q9Y3Z3,M,V,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,32253,7108,ENSG00000101347,ENST00000262878,CCDS13288.1,SAMHD1,0.41,benign,0.416,tolerated,0.06,3.52892,18.01,Q9Y3Z3_M254V,M,V,254,MV,M254V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.296,-2.709,1.413,,,,,,,,,0.00316206,0.00268817,0.107833,0.899634
5347,Q9Y3Z3,H,P,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.07,,,,,,,,,16539,22822,ENSG00000101347,ENST00000262878,CCDS13288.1,SAMHD1,0.2,probably_damaging,0.999,deleterious,0.01,4.72178,26.3,Q9Y3Z3_H123P,H,P,123,HP,H123P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-1.258,-3.729,2.471,,,,,,1.725,,69.81,0.00201894,0,0.0688502,0.880796
5464,P05067,A,V,649,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,365,16106,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.87,benign,0.397,tolerated,0.24,3.30045,17.09,P05067_A649V,A,V,649,AV,A649V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00534102,0.00826446,0.18214,0.951649
5809,P37231,R,W,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,13007,14134,ENSG00000132170,ENST00000287820,CCDS2609.1,PPARG,0.38,probably_damaging,1,deleterious,0,4.21455,21.9,P37231_R194W,R,W,194,RW,R194W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.043,H,A,1.67,-0.28,,,,0.000644611,0,0.0219826,0.543102
5892,P40692,S,F,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,2406,4422,ENSG00000076242,ENST00000231790,CCDS2663.1,MLH1,0.06,probably_damaging,0.968,deleterious,0,4.44941,23.7,P40692_S44F,S,F,44,SF,S44F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.659,-3.955,2.296,,,,,,1.883,,90.48,0.00155054,0,0.0528766,0.8605
5895,P40692,T,M,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,10217,4439,ENSG00000076242,ENST00000231790,CCDS2663.1,MLH1,0.15,probably_damaging,0.998,deleterious,0,4.67518,25.8,P40692_T117M,T,M,117,TM,T117M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.297,-4.32,3.023,,,,,,1.142,,76.32,0.000906412,0,0.0309105,0.859566
6045,O75030,R,X,299,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,19737,2914,ENSG00000187098,ENST00000314589,CCDS46865.1,MITF,0.59,,,,,5.12237,32,O75030_R299X,R,X,299,RX,R299X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0013275,0,0.0452704,0.900587
6052,Q04446,W,X,507,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,40873,2404,ENSG00000114480,ENST00000489715,,GBE1,0.77,,,,,6.06903,37,Q04446_W507X,W,X,507,WX,W507X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00259083,0,0.0883527,0.93201
6055,Q04446,F,L,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,3476,3832,ENSG00000114480,ENST00000489715,,GBE1,0.33,probably_damaging,0.938,deleterious,0,4.71703,26.2,Q04446_F216L,F,L,216,FL,F216L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.00130989,0,0.0446701,0.907915
6058,Q9UQN3,I,V,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.05,0,0,0,,,,,,13440,12722,ENSG00000083937,ENST00000494980,,CHMP2B,0.16,benign,0.004,tolerated,0.22,1.95715,12.5,Q9UQN3_I29V,I,V,29,IV,I29V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-2.276,-2.115,-0.161,,,,,,25.027,25.027,92.96,0.00636542,0,0.217074,0.990582
6059,Q9UQN3,Q,X,124,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,423,2,ENSG00000083937,ENST00000471660,,CHMP2B,0.72,,,,,6.23655,37,Q9UQN3_Q124X,Q,X,124,QX,Q124X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00628806,0,0.214436,0.915978
6074,P28069,F,C,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,12140,4426,ENSG00000064835,ENST00000560656,,POU1F1,0.8,probably_damaging,0.999,deleterious,0,4.16896,21.6,P28069_F135C,F,C,135,FC,F135C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-0.951,-4.867,3.916,0.213,H,A,0.12,-0.11,0.538,,50.17,0.00183903,0,0.0627146,0.618063
6076,P07225,R,G,561,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,81600,4046,ENSG00000184500,ENST00000394236,CCDS2923.1,PROS1,0.83,possibly_damaging,0.735,tolerated,0.14,2.90512,15.68,P07225_R561G,R,G,561,RG,R561G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.595,-3.267,1.672,,,,,,3.303,,82.69,0.00195337,0,0.0666139,0.928387
6196,P98194,R,X,468,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,1997,24631,ENSG00000017260,ENST00000328560,CCDS46913.1,ATP2C1,0.53,,,,,8.99087,41,P98194_R468X,R,X,468,RX,R468X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6227,O00469,G,V,601,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,237,1166,ENSG00000152952,ENST00000360060,CCDS3131.1,PLOD2,0.82,probably_damaging,0.991,deleterious,0,4.35551,22.9,O00469_G601V,G,V,601,GV,G601V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.086,-3.898,2.812,,,,,,3.077,,59.29,0.00262109,0,0.0893845,0.826814
6228,O00469,R,H,598,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,246,1175,ENSG00000152952,ENST00000360060,CCDS3131.1,PLOD2,0.81,probably_damaging,0.989,deleterious,0,4.8856,28,O00469_R598H,R,H,598,RH,R598H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.883,-4.468,3.585,,,,,,1.371,,59.29,0.00239659,0,0.0817286,0.854271
6245,Q9P2H3,H,Q,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,31,43,ENSG00000068885,ENST00000326448,CCDS3188.1,IFT80,0.14,probably_damaging,0.999,deleterious,0,3.61635,18.4,Q9P2H3_H105Q,H,Q,105,HQ,H105Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.433,-3.41,1.977,,,,,,,,,0.000574952,0,0.019607,0.87396
6255,P06276,E,V,525,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,51166,7981,ENSG00000114200,ENST00000264381,CCDS3198.1,BCHE,0.87,benign,0.006,tolerated,0.06,2.04025,12.78,P06276_E525V,E,V,525,EV,E525V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,-1.348,-3.473,2.125,0.422,T,A,1.48,0.54,2.128,,86.71,0.00273775,0,0.0933628,0.828544
6263,Q99574,H,R,338,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,83,2542,ENSG00000163536,ENST00000446050,CCDS3203.1,SERPINI1,0.82,possibly_damaging,0.54,deleterious,0.03,3.623,18.43,Q99574_H338R,H,R,338,HR,H338R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.6,-3.213,1.613,,E,B,1.03,-0.06,3.84,,52.93,0.00219181,0,0.0747452,0.728848
6494,P29973,S,F,320,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,0.001,0,0.002,0.001,,,,0.001,23308,1521,ENSG00000198515,ENST00000358519,CCDS43226.1,CNGA1,0.46,probably_damaging,1,deleterious,0.03,3.20786,16.74,P29973_S320F,S,F,320,SF,S320F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.918,-3.267,1.349,,,,,,15.53,15.53,84.64,0.00111002,0,0.037854,0.955399
6505,P10721,V,A,555,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,69525,11568,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.57,probably_damaging,0.943,deleterious,0,4.6925,26,P10721_V555A,V,A,555,VA,V555A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.455,-2.824,1.369,0.075,.,B,0.44,0,2.789,,59.43,0.000775134,0,0.0264337,0.777175
6510,P10721,R,G,792,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,3802,308,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.81,probably_damaging,1,deleterious,0,3.67119,18.66,P10721_R792G,R,G,792,RG,R792G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00133774,0,0.0456198,0.878036
6549,P58335,I,T,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,17279,61,ENSG00000163297,ENST00000295465,,ANTXR2,0.59,probably_damaging,0.996,deleterious,0,3.51434,17.95,P58335_I189T,I,T,189,IT,I189T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.396,-3.192,1.796,,H,A,0.7,-0.89,1.96,,39.26,0.00183245,0,0.0624902,0.704604
6552,Q96H96,N,S,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,5554,39,ENSG00000173085,ENST00000311461,,COQ2,0.54,probably_damaging,0.972,deleterious,0,4.57932,24.9,Q96H96_N178S,N,S,178,NS,N178S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.079,-2.753,1.674,,,,,,,,,0.00432941,0,0.147642,0.882311
6586,P05156,H,L,418,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.07,0,0,0,,,,,,106,4522,ENSG00000205403,ENST00000394634,CCDS34049.1,CFI,0.72,probably_damaging,1,deleterious,0,3.38103,17.4,P05156_H418L,H,L,418,HL,H418L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.124,-3.439,2.315,,,,,,,,,,,,0.772738
6603,Q8NHS3,G,D,265,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,34391,46,ENSG00000164073,ENST00000513559,,MFSD8,0.56,probably_damaging,0.994,deleterious,0,3.22742,16.82,Q8NHS3_G265D,G,D,265,GD,G265D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00219092,0,0.074715,0.961241
6637,P20933,C,R,306,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,6387,24,ENSG00000038002,ENST00000264595,CCDS3829.1,AGA,0.88,probably_damaging,0.959,deleterious,0.01,4.31168,22.6,P20933_C306R,C,R,306,CR,C306R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.111,-4.014,2.903,0.01,E,B,1.66,0,,,,0.00896981,0,0.305889,0.543633
6639,P20933,C,S,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,0.001,,,,0.003,861,1696,ENSG00000038002,ENST00000264595,CCDS3829.1,AGA,0.47,probably_damaging,1,deleterious,0,4.50453,24.2,P20933_C163S,C,S,163,CS,C163S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.194,-3.203,2.009,0.057,S,l,0.73,0,,,,0.00344968,0.00546448,0.117641,0.682179
6657,Q6ZWL3,M,V,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,0.001,0.004,,,,47,14760,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.23,benign,0,tolerated,0.4,-0.120249,3.411,Q6ZWL3_M123V,M,V,123,MV,M123V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-2.154,-2.187,0.033,,,,,,21.077,21.077,81.9,0.00432532,0,0.147502,1.01231
6658,Q6ZWL3,G,X,134,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,0,0,0,,,,,,14,14727,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.26,,,,,9.67085,42,Q6ZWL3_G134X,G,X,134,GX,G134X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.00110859,0,0.037805,0.900721
6677,P03952,R,X,161,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,0,0,0,,,,,,9230,99,ENSG00000164344,ENST00000511608,,KLKB1,0.23,,,,,2.29033,13.62,P03952_R161X,R,X,161,RX,R161X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00112561,0,0.0383855,0.908362
6690,P03951,F,V,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,73,384,ENSG00000088926,ENST00000264692,,F11,0.71,probably_damaging,0.996,tolerated,0.1,3.42544,17.58,P03951_F408V,F,V,408,FV,F408V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,,,,,,,,,,,,0.00177059,0,0.0603807,0.94763
6740,P43003,C,S,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,3259,3048,ENSG00000079215,ENST00000265113,CCDS3919.1,SLC1A3,0.34,possibly_damaging,0.831,deleterious,0.03,4.87779,28,P43003_C186S,C,S,186,CS,C186S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.412,-3.121,1.709,,,,,,,,,0.000976273,0,0.0332929,0.83204
6752,Q6KC79,R,X,1814,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.08,,,,,,,,,145466,41935,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.67,,,,,14.6651,48,Q6KC79_R1814X,R,X,1814,RX,R1814X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6757,Q6KC79,Y,C,2430,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,6268,6980,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.9,probably_damaging,0.992,deleterious,0,3.98257,20.4,Q6KC79_Y2430C,Y,C,2430,YC,Y2430C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.448,-4.968,3.52,,,,,,0.65,,19.54,,,,0.739662
6761,Q99650,G,A,618,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,77238,12405,ENSG00000145623,ENST00000274276,CCDS3928.1,OSMR,0.63,probably_damaging,0.946,deleterious,0,3.74065,18.99,Q99650_G618A,G,A,618,GA,G618A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.741,-2.728,1.987,,,,,,,,,0.000445034,0,0.0151766,0.856605
6789,P10912,E,E,198,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.36,0.01,,,,,,,,,134122,19814,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.31,,,,,0.809308,8.252,P10912_E198E,E,E,198,EE,E198E,negativeCharge,negativeCharge,3.22,3.22,0,147,147,0,138.4,138.4,0,0,,,,,,,,,,,,0.000788132,0,0.0268769,1.00426
6793,O15520,I,R,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,83643,1611,ENSG00000070193,ENST00000264664,CCDS3950.1,FGF10,0.75,probably_damaging,0.995,deleterious,0,3.5222,17.99,O15520_I156R,I,R,156,IR,I156R,Hydrophobic,PositiveCharge,6.02,6.34,0.32,131,174,43,166.7,173.4,6.7,97,-1.313,-3.935,2.622,0.128,E,B,1.68,-1.83,,,,0.00711055,0,0.242484,0.518402
6823,O00203,R,X,302,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,113148,179219,ENSG00000132842,ENST00000255194,CCDS4041.1,AP3B1,0.28,,,,,6.6751,38,O00203_R302X,R,X,302,RX,R302X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000668425,0,0.0227947,0.977351
6831,P00374,D,V,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,20198,4840,ENSG00000228716,ENST00000505337,CCDS47240.1,DHFR,0.82,possibly_damaging,0.898,deleterious,0.01,4.4021,23.3,P00374_D153V,D,V,153,DV,D153V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.139,-3.489,2.35,0.299,.,B,1.19,0.62,,,,0.0116235,0,0.396384,0.700086
6846,Q8NI36,R,Q,529,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,0.001,0.001,0.002,0.001,,,,0.001,17960,1273,ENSG00000134987,ENST00000513710,CCDS4102.1,WDR36,0.56,probably_damaging,0.999,deleterious,0,5.05286,30,Q8NI36_R529Q,R,Q,529,RQ,R529Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.32,-3.26,1.94,,,,,,3.624,,55.63,0.000529406,0,0.0180538,0.920139
6847,Q8NI36,D,G,658,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,0.005,0.002,0.007,0.002,,0.003,,0.004,26736,7925,ENSG00000134987,ENST00000513710,CCDS4102.1,WDR36,0.69,probably_damaging,0.998,deleterious,0.01,4.24833,22.1,Q8NI36_D658G,D,G,658,DG,D658G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.985,-2.95,1.965,,,,,,,,,0.000687933,0,0.0234599,0.844438
6885,Q9Y6B6,E,X,54,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,4599,1451,ENSG00000152700,ENST00000509730,,SAR1B,0.46,,,,,5.75337,36,Q9Y6B6_E54X,E,X,54,EX,E54X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00701403,0,0.239193,0.927988
6982,Q92629,S,A,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,268243,163057,ENSG00000170624,ENST00000435422,CCDS47327.1,SGCD,0.52,benign,0.152,tolerated,0.33,2.72133,15.06,Q92629_S150A,S,A,150,SA,S150A,Polar,Hydrophobic,5.68,6,0.32,105,89,-16,89,88.6,-0.4,99,-1.519,-2.309,0.79,,,,,,,,,0.00411681,0,0.140392,0.927015
7181,P22033,G,S,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,5391,27441,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.29,probably_damaging,0.993,deleterious,0,5.32113,34,P22033_G215S,G,S,215,GS,G215S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.713,-3.228,2.515,0.023,E,g,0.02,-0.42,2.523,,79.07,0.000171827,0,0.00585966,0.713591
7207,Q5T1H1,E,X,1953,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,1059167,715645,ENSG00000188107,ENST00000370616,,EYS,0.62,,,,,9.28191,42,Q5T1H1_E1953X,E,X,1953,EX,E1953X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
7223,Q9P032,L,P,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,129,5639,ENSG00000123545,ENST00000316149,CCDS5037.1,NDUFAF4,0.37,probably_damaging,1,deleterious,0,2.68923,14.95,Q9P032_L65P,L,P,65,LP,L65P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.972,-3.96,2.988,,,,,,,,,0.00265854,0,0.0906618,0.77051
7229,Q92562,D,Y,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,13448,23286,ENSG00000112367,ENST00000454215,,FIG4,0.13,probably_damaging,0.979,deleterious,0,4.50182,24.2,Q92562_D32Y,D,Y,32,DY,D32Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.00118613,0,0.0404495,0.899638
7232,O95389,W,X,349,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,8269,111,ENSG00000112761,ENST00000361714,CCDS5097.1,WISP3,0.94,,,,,5.09053,31,O95389_W349X,W,X,349,WX,W349X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
7233,O95389,S,P,352,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,8276,104,ENSG00000112761,ENST00000361714,CCDS5097.1,WISP3,0.95,probably_damaging,0.999,deleterious,0,4.24075,22.1,O95389_S352P,S,P,352,SP,S352P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,,,,0.953006
7260,P24043,Q,X,1240,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,432441,200932,ENSG00000196569,ENST00000421865,CCDS5138.1,LAMA2,0.4,,,,,10.5952,44,P24043_Q1240X,Q,X,1240,QX,Q1240X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7274,P22413,L,F,579,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,15395,853,ENSG00000197594,ENST00000360971,CCDS5150.2,ENPP1,0.63,probably_damaging,0.911,deleterious,0,2.79851,15.32,P22413_L579F,L,F,579,LF,L579F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.284,-3.483,2.199,,,,,,2.264,,50.49,0.00127616,0,0.0435196,0.877815
7306,Q8NF91,Q,X,1981,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,4649,91957,ENSG00000131018,ENST00000356820,,SYNE1,0.6,,,,,15.11,49,Q8NF91_Q1981X,Q,X,1981,QX,Q1981X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7361,P41250,P,L,298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,17223,10582,ENSG00000106105,ENST00000389266,CCDS43564.1,GARS,0.4,probably_damaging,1,deleterious,0,4.44491,23.7,P41250_P298L,P,L,298,PL,P298L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.356,-1.973,0.617,0.023,S,A,1.07,-1.66,21.24,21.24,56.56,0.000377089,0,0.0128595,0.780384
7374,Q8TA86,D,G,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,5496,92,ENSG00000164610,ENST00000297157,CCDS5440.1,RP9,0.77,probably_damaging,0.926,deleterious,0.01,3.53657,18.05,Q8TA86_D170G,D,G,170,DG,D170G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.431,-2.994,1.563,,,,,,3.294,,92.31,0.00664215,0,0.226511,0.899685
7383,Q9HAC7,R,X,101,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,0,0,0,0.001,,,,0.001,53549,1026,ENSG00000175600,ENST00000540834,,C7orf10,0.5,,,,,4.18337,21.7,Q9HAC7_R101X,R,X,101,RX,R101X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00331224,0,0.112954,0.951177
7491,P21439,T,A,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.05,0.008,0.002,0.012,0.01,,0.01,0.002,0.01,22509,585,ENSG00000005471,ENST00000453593,CCDS5607.1,ABCB4,0.14,probably_damaging,0.907,deleterious,0,4.78001,26.9,P21439_T175A,T,A,175,TA,T175A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.334,-2.756,1.422,,,,,,7.604,,79.78,0.000539198,0,0.0183878,0.967832
7575,P08581,H,R,1112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,235,18933,ENSG00000105976,ENST00000318493,CCDS47689.1,MET,0.79,possibly_damaging,0.823,deleterious,0,4.46844,23.9,P08581_H1112R,H,R,1112,HR,H1112R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.000572658,0,0.0195288,1.00518
7578,P08581,V,I,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,6154,13014,ENSG00000105976,ENST00000539704,,MET,0.35,possibly_damaging,0.902,deleterious,0.03,4.9306,28.6,P08581_V90I,V,I,90,VI,V90I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,0.000413465,0,0.0141,1.00304
7582,P13569,W,X,57,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,28945,21939,ENSG00000001626,ENST00000426809,,CFTR,0.04,,,,,5.14391,32,P13569_W57X,W,X,57,WX,W57X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000312736,0,0.0106649,0.956807
7601,P13569,S,F,462,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,93,28204,ENSG00000001626,ENST00000426809,,CFTR,0.32,probably_damaging,0.981,deleterious,0.03,4.57453,24.8,P13569_S462F,S,F,462,SF,S462F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.000425722,0,0.014518,0.969607
7603,P13569,I,V,476,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,0,0,0,,,,,,52,28163,ENSG00000001626,ENST00000426809,,CFTR,0.33,probably_damaging,0.997,tolerated,0.09,4.1475,21.4,P13569_I476V,I,V,476,IV,I476V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.000492242,0,0.0167865,1.00528
7608,P13569,G,X,512,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,0.001,0,0.002,,,,,,28140,29,ENSG00000001626,ENST00000426809,,CFTR,0.36,,,,,4.98924,29.2,P13569_G512X,G,X,512,GX,G512X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.000327972,0,0.0111845,0.968579
7616,P13569,I,V,526,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,0.01,0.06,,,,28182,71,ENSG00000001626,ENST00000426809,,CFTR,0.37,benign,0.342,tolerated,0.27,2.07837,12.91,P13569_I526V,I,V,526,IV,I526V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.000151304,0,0.00515977,1.00624
7617,P13569,A,T,529,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,0,0,0,,,,,,28191,80,ENSG00000001626,ENST00000426809,,CFTR,0.37,probably_damaging,0.999,deleterious,0,5.49031,35,P13569_A529T,A,T,529,AT,A529T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000698201,0,0.0238101,0.995499
7628,P13569,K,X,680,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,112200,74777,ENSG00000001626,ENST00000426809,,CFTR,0.47,,,,,6.14248,37,P13569_K680X,K,X,680,KX,K680X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000448621,0,0.0152989,0.98231
7630,P13569,E,X,797,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,112551,74426,ENSG00000001626,ENST00000426809,,CFTR,0.55,,,,,7.98452,40,P13569_E797X,E,X,797,EX,E797X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000401347,0,0.0136868,0.980139
7631,P13569,R,X,821,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,114895,72082,ENSG00000001626,ENST00000426809,,CFTR,0.57,,,,,6.26922,37,P13569_R821X,R,X,821,RX,R821X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000480363,0,0.0163814,0.977351
7643,P13569,R,X,1132,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,0,0,0,,,,,,15920,374,ENSG00000001626,ENST00000426809,,CFTR,0.79,,,,,8.06269,40,P13569_R1132X,R,X,1132,RX,R1132X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00103068,0,0.0351483,0.908362
7646,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.36,0.01,,,,,,,,,7455,27111,,ENSR00000633254,,,,,,,,0.690966,7.691,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7656,P13569,W,X,1286,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,172820,14157,ENSG00000001626,ENST00000426809,,CFTR,0.89,,,,,8.54399,41,P13569_W1286X,W,X,1286,WX,W1286X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00115322,0,0.0393273,0.889194
7693,P15056,A,P,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.05,,,,,,,,,123123,66939,ENSG00000157764,ENST00000288602,CCDS5863.1,BRAF,0.32,probably_damaging,0.986,deleterious,0,5.23085,33,P15056_A246P,A,P,246,AP,A246P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.307,-3.336,2.029,,,,,,,,,0.00105078,0,0.0358337,0.793559
7772,Q13510,L,V,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,178,99,ENSG00000104763,ENST00000520781,,ASAH1,0.42,probably_damaging,1,deleterious,0,3.77853,19.18,Q13510_L157V,L,V,157,LV,L157V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,,,,,,,,,,,,0.00219761,0,0.0749429,0.980085
7778,P11245,R,K,268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,0.584,0.601,0.576,0.68,0.97,0.6,0.6,0.56,9519,188,ENSG00000156006,ENST00000286479,CCDS6008.1,NAT2,0.92,benign,0.003,tolerated,1,-2.88312,0.001,P11245_R268K,R,K,268,RK,R268K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,,,,,,,,,,,,0.00827302,0,0.282127,0.946225
7779,P11245,G,E,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,0.023,0.029,0.02,0.07,0.16,0.09,0.03,0.02,9573,134,ENSG00000156006,ENST00000286479,CCDS6008.1,NAT2,0.99,benign,0.101,tolerated,1,-1.79516,0.01,P11245_G286E,G,E,286,GE,G286E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-2.484,-3.407,0.923,0.172,S,l,0.75,-0.03,8.049,,77.93,0.034776,0,1.18593,0.901697
7831,Q14191,R,X,369,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,0,0,0,,,,,,47331,92638,ENSG00000165392,ENST00000298139,CCDS6082.1,WRN,0.26,,,,,6.21526,37,Q14191_R369X,R,X,369,RX,R369X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7834,Q14191,Q,X,1165,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,59753,26367,ENSG00000165392,ENST00000298139,CCDS6082.1,WRN,0.81,,,,,10.9861,44,Q14191_Q1165X,Q,X,1165,QX,Q1165X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7866,Q9NVV9,F,L,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,3577,4,ENSG00000131931,ENST00000254250,CCDS6136.1,THAP1,0.38,probably_damaging,0.949,deleterious,0,3.93027,20,Q9NVV9_F81L,F,L,81,FL,F81L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.69,-2.88,1.19,,,,,,3.103,,52.11,0.0005629,0,0.019196,0.951038
7917,Q9NQW8,S,F,435,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,110908,58833,ENSG00000170289,ENST00000320005,CCDS6244.1,CNGB3,0.54,probably_damaging,0.997,deleterious,0,3.08767,16.31,Q9NQW8_S435F,S,F,435,SF,S435F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.068,-3.923,2.855,,,,,,,,,0.000586023,0,0.0199846,0.78761
7938,Q7Z7G8,L,R,2193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,703953,160361,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.55,probably_damaging,0.948,deleterious,0,3.12913,16.46,Q7Z7G8_L2193R,L,R,2193,LR,L2193R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.663,-3.87,2.207,,,,,,2.233,,77.95,,,,0.839364
7950,Q7LG56,Q,X,232,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,1401,53,ENSG00000048392,ENST00000395912,CCDS55267.1,RRM2B,0.78,,,,,4.37047,23.1,Q7LG56_Q232X,Q,X,232,QX,Q232X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7951,Q7LG56,C,F,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,94,1360,ENSG00000048392,ENST00000395912,CCDS55267.1,RRM2B,0.62,probably_damaging,0.961,deleterious,0,4.53376,24.5,Q7LG56_C184F,C,F,184,CF,C184F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,,,,0.932606
8081,Q9Y223,R,Q,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,12533,19675,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.34,benign,0.034,tolerated,0.39,2.4197,14.05,Q9Y223_R246Q,R,Q,246,RQ,R246Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.866,-3.41,1.544,,,,,,4.484,,84.2,0.00119993,0,0.04092,0.974897
8130,Q9BX84,S,X,585,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,20350,40172,ENSG00000119121,ENST00000449912,CCDS55319.1,TRPM6,0.29,,,,,5.98964,37,Q9BX84_S585X,S,X,585,SX,S585X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
8138,Q96T21,K,X,235,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,15396,124,ENSG00000187742,ENST00000425851,,SECISBP2,0.85,,,,,1.72885,11.74,Q96T21_K235X,K,X,235,KX,K235X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
8183,P36897,T,I,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,9967,24,ENSG00000106799,ENST00000550253,,TGFBR1,0.3,probably_damaging,0.992,deleterious,0,5.04171,29.9,P36897_T131I,T,I,131,TI,T131I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00212774,0,0.0725604,0.971247
8189,Q9Y283,L,S,493,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,165560,33474,ENSG00000119509,ENST00000262457,CCDS6746.1,INVS,0.46,probably_damaging,1,deleterious,0,4.17709,21.6,Q9Y283_L493S,L,S,493,LS,L493S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.117,-3.388,2.271,,,,,,,,,0.00027117,0,0.00924744,0.792843
8216,O75072,Q,X,116,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,0,0,0,,,,,,26205,3071,ENSG00000106692,ENST00000540160,,FKTN,0.43,,,,,4.19074,21.7,O75072_Q116X,Q,X,116,QX,Q116X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000888454,0,0.0302981,0.98231
8235,O00206,D,G,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,0.064,0.071,0.06,0.04,,0.05,0.07,0.06,8635,1929,ENSG00000136869,ENST00000355622,CCDS6818.1,TLR4,0.36,benign,0.012,tolerated,0.09,1.5113,11,O00206_D299G,D,G,299,DG,D299G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-2.346,-2.726,0.38,0.244,.,B,0.46,0.33,39.014,39.014,71.63,0.00071623,0,0.0244249,0.991035
8310,Q7Z333,R,X,1363,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,27475,66071,ENSG00000107290,ENST00000372169,,SETX,0.5,,,,,7.51933,39,Q7Z333_R1363X,R,X,1363,RX,R1363X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8387,Q99217,T,I,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,4830,2511,ENSG00000125363,ENST00000380712,CCDS14145.1,AMELX,0.25,probably_damaging,0.999,deleterious,0,3.31944,17.16,Q99217_T51I,T,I,51,TI,T51I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00464938,0,0.158553,0.950623
8397,P56377,R,X,52,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,132,20307,ENSG00000182287,ENST00000380291,,AP1S2,0.33,,,,,6.6693,38,P56377_R52X,R,X,52,RX,R52X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8436,P51812,G,V,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,9555,5945,ENSG00000177189,ENST00000379565,CCDS14197.1,RPS6KA3,0.1,probably_damaging,0.988,deleterious,0,4.28394,22.4,P51812_G75V,G,V,75,GV,G75V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.008,-3.435,2.427,0.345,E,b,0.73,-0.22,,,,0.000252186,0,0.00860006,0.717103
8477,P32189,R,X,419,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,21,553,ENSG00000198814,ENST00000378946,CCDS14225.1,GK,0.79,,,,,8.39674,40,P32189_R419X,R,X,419,RX,R419X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00289243,0,0.0986378,0.951177
8492,P11532,Q,X,2319,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0,,,,,,,,,43,753934,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.63,,,,,16.6428,50,P11532_Q2319X,Q,X,2319,QX,Q2319X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8525,P04839,A,T,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,13729,17311,ENSG00000165168,ENST00000378588,CCDS14242.1,CYBB,0.27,benign,0.069,tolerated,0.11,1.12325,9.58,P04839_A156T,A,T,156,AT,A156T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.923,-3.31,1.387,,,,,,4.581,,91.75,0.00219261,0,0.0747726,0.973734
8529,P04839,H,N,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,5666,194,ENSG00000165168,ENST00000536160,,CYBB,0.12,probably_damaging,0.991,deleterious,0,4.55491,24.7,P04839_H36N,H,N,36,HN,H36N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,,,,,,,,,,,,0.00148252,0,0.0505571,0.914924
8546,P00480,R,X,23,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,158,50905,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.06,,,,,6.42072,37,P00480_R23X,R,X,23,RX,R23X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0012166,0,0.0414886,0.901516
8554,P00480,Q,X,32,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,14702,36361,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.09,,,,,4.69766,26,P00480_Q32X,Q,X,32,QX,Q32X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00255203,0.00621118,0.0870297,0.964034
8555,P00480,Q,X,36,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,14714,36349,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.1,,,,,4.26775,22.3,P00480_Q36X,Q,X,36,QX,Q36X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00437135,0.00314465,0.149072,0.942769
8557,P00480,R,C,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,14726,36337,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.11,probably_damaging,0.944,deleterious,0.01,3.44285,17.65,P00480_R40C,R,C,40,RC,R40C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.461,-5.433,3.972,0.303,.,B,1.66,0.4,0.783,,75.99,0.00566077,0.00318471,0.193044,0.702942
8558,P00480,R,H,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,14727,36336,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.11,benign,0.038,deleterious,0.03,1.80729,12,P00480_R40H,R,H,40,RH,R40H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.461,-3.344,1.883,0.303,.,B,1.03,0.4,26.402,26.402,75.99,0.00566077,0.00318471,0.193044,0.89887
8559,P00480,D,G,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,14730,36333,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.12,benign,0.168,tolerated,0.08,1.82905,12.07,P00480_D41G,D,G,41,DG,D41G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.489,-3.452,1.963,0.317,.,B,0.46,-0.15,4.848,,84.46,0.00530427,0,0.180887,0.832771
8561,P00480,T,I,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,14739,36324,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.12,probably_damaging,0.998,deleterious,0,3.56611,18.18,P00480_T44I,T,I,44,TI,T44I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.731,-4.168,2.437,0.029,.,b,0.7,-0.61,4.486,,75.71,0.00578935,0,0.197429,0.665234
8562,P00480,L,V,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,14741,36322,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.13,possibly_damaging,0.837,tolerated,0.05,2.50736,14.34,P00480_L45V,L,V,45,LV,L45V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.408,-2.507,1.099,,G,A,0.11,-0.31,20.763,20.763,77.12,0.00502074,0,0.171217,0.870186
8563,P00480,L,P,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,14742,36321,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.13,probably_damaging,0.999,deleterious,0,3.24641,16.89,P00480_L45P,L,P,45,LP,L45P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.408,-4.409,3.001,,G,A,1.07,-0.31,1.317,,77.12,0.00502074,0,0.171217,0.590861
8574,P00480,I,T,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,14766,36297,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.15,probably_damaging,0.962,deleterious,0,3.68516,18.72,P00480_I53T,I,T,53,IT,I53T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.462,-3.782,2.32,,H,A,0.7,-0.49,2.62,,75.42,0.00474734,0,0.161894,0.637751
8575,P00480,I,S,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,14766,36297,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.15,probably_damaging,0.98,deleterious,0,3.8214,19.41,P00480_I53S,I,S,53,IS,I53S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-1.462,-3.964,2.502,,H,A,0.75,-0.49,1.914,,75.42,0.00474734,0,0.161894,0.595106
8576,P00480,Y,D,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,14771,36292,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.16,benign,0.275,tolerated,0.31,1.67261,11.55,P00480_Y55D,Y,D,55,YD,Y55D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-2.496,-2.75,0.254,0.221,H,A,0.96,-0.13,18.827,18.827,72.88,0.00586261,0,0.199927,0.889791
8579,P00480,W,X,58,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.04,,,,,,,,,14782,36281,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.16,,,,,6.36137,37,P00480_W58X,W,X,58,WX,W58X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00567799,0,0.193631,0.899189
8581,P00480,L,P,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,14796,36267,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.18,probably_damaging,0.999,tolerated,0.05,3.599,18.32,P00480_L63P,L,P,63,LP,L63P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.703,-3.705,2.002,,H,A,1.07,-0.5,20.544,20.544,48.31,0.00471088,0,0.160651,0.601881
8584,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.36,0.03,,,,,,,,,14825,36238,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,3.57546,18.22,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8585,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.36,0.03,,,,,,,,,14825,36238,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,3.51514,17.96,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8615,P00480,G,V,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,28752,22311,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.3,probably_damaging,1,deleterious,0,4.07752,21,P00480_G105V,G,V,105,GV,G105V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.686,-3.92,3.234,0.287,T,l,0.73,-0.65,2.422,,58.76,0.000847794,0,0.0289115,0.627736
8617,P00480,G,E,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,28755,22308,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.3,probably_damaging,1,deleterious,0,4.29119,22.4,P00480_G106E,G,E,106,GE,G106E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.796,-3.828,3.032,0.103,.,B,0.75,-0.69,2.908,,58.76,0.0017431,0,0.0594434,0.509599
8618,P00480,G,V,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,,,,,,,,,28755,22308,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.3,probably_damaging,0.999,deleterious,0,4.0622,20.9,P00480_G106V,G,V,106,GV,G106V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.796,-3.773,2.977,0.103,.,B,0.73,-0.69,2.911,,58.76,0.0017431,0,0.0594434,0.508395
8627,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.36,0.04,,,,,,,,,28825,22238,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,4.36723,23,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8628,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.36,0.04,,,,,,,,,28825,22238,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,4.30691,22.6,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8629,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.36,0.04,,,,,,,,,28826,22237,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,4.23114,22,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8636,P00480,A,E,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,72,2376,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.38,benign,0.149,deleterious,0.01,3.30672,17.11,P00480_A135E,A,E,135,AE,A135E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-2.502,-4.1,1.598,0.107,.,B,1.04,-0.46,3.777,,93.79,0.00535013,0,0.18245,0.766912
8738,P00480,A,V,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,7413,3114,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.66,possibly_damaging,0.868,tolerated,0.18,2.56141,14.52,P00480_A233V,A,V,233,AV,A233V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.584,-2.219,0.635,0.049,H,A,0.44,0.27,12.777,12.777,57.91,0.00415088,0,0.141554,0.867947
8739,P00480,E,X,234,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,7415,3112,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.66,,,,,3.93742,20.1,P00480_E234X,E,X,234,EX,E234X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00578956,0,0.197436,0.924495
8836,O14936,R,L,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,69779,66394,ENSG00000147044,ENST00000421587,CCDS48094.1,CASK,0.03,benign,0.308,tolerated,0.13,3.7321,18.95,O14936_R28L,R,L,28,RL,R28L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.961,-2.961,1,0.201,E,B,1.75,-0.83,,,,0.000535494,0,0.0182615,0.748694
8864,P51814,P,L,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,0.001,0,0.001,,,,,,18111,174,ENSG00000147124,ENST00000313116,CCDS14279.1,ZNF41,0.14,benign,0.024,tolerated,0.26,0.052851,4.289,P51814_P111L,P,L,111,PL,P111L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
9070,O75027,V,L,385,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,1083,1443,ENSG00000131269,ENST00000529949,,ABCB7,0.55,probably_damaging,0.982,deleterious,0.01,4.85475,27.7,O75027_V385L,V,L,385,VL,V385L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,,,,0.956188
9075,P46100,R,Q,2093,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.07,,,,,,,,,227451,53874,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.85,probably_damaging,0.999,,,4.23278,22,P46100_R2093Q,R,Q,2093,RQ,R2093Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
9114,Q6RI45,K,E,1596,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,45342,14,ENSG00000165288,ENST00000373275,CCDS14447.1,BRWD3,0.89,benign,0.012,tolerated,0.11,0.811759,8.264,Q6RI45_K1596E,K,E,1596,KE,K1596E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.845,-2.099,0.254,,,,,,25.469,25.469,93.4,,,,0.97375
9169,P06280,T,A,410,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,824,64,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.96,benign,0.027,deleterious,0.01,2.12777,13.07,P06280_T410A,T,A,410,TA,T410A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.319,-2.671,1.352,,T,l,0.22,-1.02,8.43,,77.16,0.00806173,0,0.274922,0.759144
9191,P06280,N,S,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,248,34,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.5,benign,0.02,deleterious,0,3.26415,16.95,P06280_N215S,N,S,215,NS,N215S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.249,-2.977,1.728,0.544,.,B,0.34,1.83,3.315,,69.93,0.00444582,0,0.151612,0.901393
9233,P60891,D,H,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,33,1799,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.16,probably_damaging,1,deleterious,0,4.44565,23.7,P60891_D52H,D,H,52,DH,D52H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.497,-4.058,2.561,0.037,E,B,0.58,-0.66,,,,0.000992351,0,0.0338412,0.592836
9257,P29400,,,,Transcript,INTRONIC,2,intron,pathogenic,0.36,0,,,,,,,,,133675,123985,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,-0.115914,3.432,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9317,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.36,0,,,,,,,,,14577,30201,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,2.79817,15.32,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9406,P29400,G,R,1196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,227283,30377,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.71,,,deleterious,0,3.69552,18.77,P29400_G1196R,G,R,1196,GR,G1196R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.082,-3.623,2.541,,,,,,3.299,,66.53,1.33e-05,0,0.000452121,0.845484
9479,Q96EU7,D,E,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.04,0.16,0.041,0.228,0.13,0.11,0.11,0.02,0.24,3222,843,ENSG00000171155,ENST00000371313,CCDS14602.1,C1GALT1C1,0.41,benign,0.001,tolerated,1,-0.916361,0.405,Q96EU7_D131E,D,E,131,DE,D131E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.442,-1.504,0.062,,,,,,22.233,22.233,74.84,0.00707471,0,0.241262,0.994612
9513,Q8IWS0,R,G,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,41682,238,ENSG00000156531,ENST00000394292,,PHF6,0.7,probably_damaging,0.993,tolerated,0.22,3.29477,17.07,Q8IWS0_R258G,R,G,258,RG,R258G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00451605,0,0.154007,0.914467
9514,Q8IWS0,R,X,343,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.03,,,,,,,,,51909,868,ENSG00000156531,ENST00000394292,,PHF6,0.94,,,,,5.32232,34,Q8IWS0_R343X,R,X,343,RX,R343X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0110423,0,0.376566,0.917368
9530,P00492,G,D,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,20150,5118,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.64,probably_damaging,1,deleterious,0,4.497,24.1,P00492_G140D,G,D,140,GD,G140D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.008,-3.15,2.142,0.046,S,l,0.46,-0.64,,,,0.00209406,0,0.0714118,0.615326
9531,P00492,M,K,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,20159,5109,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.66,probably_damaging,0.999,deleterious,0,3.89749,19.82,P00492_M143K,M,K,143,MK,M143K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.998,-3.139,1.141,0.013,H,A,2.89,-0.35,,,,0.00824628,0,0.281215,0.621132
9534,P00492,T,I,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,25033,235,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.77,benign,0.195,deleterious,0,3.43238,17.61,P00492_T168I,T,I,168,TI,T168I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.391,-3.242,1.851,0.101,.,B,0.7,-0.66,,,,0.00928087,0,0.316497,0.673771
9535,P00492,R,X,170,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.36,0.01,,,,,,,,,25038,230,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.78,,,,,4.99834,29.3,P00492_R170X,R,X,170,RX,R170X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00658605,0,0.224598,0.920376
9570,P00740,C,R,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,6346,11282,ENSG00000101981,ENST00000394090,,F9,0.15,probably_damaging,1,deleterious,0,3.60868,18.37,P00740_C64R,C,R,64,CR,C64R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,0.019,T,A,1.66,-0.2,,,,0.000458472,0,0.0156348,0.544934
9571,P00740,E,K,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,6373,11255,ENSG00000101981,ENST00000394090,,F9,0.17,probably_damaging,1,deleterious,0,4.7565,26.6,P00740_E73K,E,K,73,EK,E73K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,0.203,H,A,1.3,-0.2,,,,0.000512727,0,0.017485,0.793702
9574,P00740,R,Q,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.01,,,,,,,,,6380,11248,ENSG00000101981,ENST00000394090,,F9,0.18,probably_damaging,1,deleterious,0,4.23603,22,P00740_R75Q,R,Q,75,RQ,R75Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.312,-2.242,0.93,0.397,H,A,0.56,-0.2,18.098,18.098,84.6,0.00208025,0,0.0709408,0.920526
9594,P00740,A,T,241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,30087,1220,ENSG00000101981,ENST00000394090,,F9,0.57,probably_damaging,0.965,deleterious,0.03,3.26466,16.95,P00740_A241T,A,T,241,AT,A241T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000678338,0,0.0231327,0.995499
9626,Q06787,I,N,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0,,,,,,,,,4049,4104,ENSG00000102081,ENST00000218200,CCDS55519.1,FMR1,0.5,probably_damaging,1,deleterious,0,4.35281,22.9,Q06787_I304N,I,N,304,IN,I304N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.436,-3.858,2.422,0.03,H,A,1.09,-0.23,,,,0.00047409,0,0.0161675,0.635475
9663,Q13496,E,K,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.36,0.03,,,,,,,,,70347,55,ENSG00000171100,ENST00000542741,,MTM1,0.15,benign,0.274,deleterious,0.01,4.71759,26.2,Q13496_E62K,E,K,62,EK,E62K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00143408,0,0.0489051,0.912331
110,Q8IZT6,H,R,3258,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.37,0.01,0.007,0.022,0,0.01,,0.01,0.02,,44893,6120,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.94,benign,0.003,tolerated,0.2,1.06592,9.353,Q8IZT6_H3258R,H,R,3258,HR,H3258R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-2.123,-2.875,0.752,,,,,,31.168,31.168,14.15,,,,0.921979
320,P02768,D,N,399,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.37,0.01,0,0.001,0,0.001,,,0.002,,2685,864,ENSG00000163631,ENST00000509063,,ALB,0.66,benign,0.026,tolerated,0.07,2.10633,13,P02768_D399N,D,N,399,DN,D399N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.978,-2.99,1.012,0.628,H,A,0.14,0.57,12.482,12.482,78.82,0.00314382,0,0.124331,0.937159
321,P02768,D,H,399,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.37,0.01,,,,,,,,,2685,864,ENSG00000163631,ENST00000509063,,ALB,0.66,benign,0.022,tolerated,0.14,1.24694,10.06,P02768_D399H,D,H,399,DH,D399H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.978,-3.43,1.452,0.628,H,A,0.58,0.57,24.765,24.765,78.82,0.00314382,0,0.124331,0.916523
353,P00480,K,R,46,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.37,0.03,0.29,0.376,0.241,0.2,0.002,0.18,0.34,0.26,14745,36318,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.13,benign,0.159,tolerated,0.31,1.53049,11.07,P00480_K46R,K,R,46,KR,K46R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-2.361,-3.111,0.75,0.411,G,A,1.14,1,18.854,18.854,76.55,0.00593227,0,0.234609,0.97219
354,P00451,D,E,1260,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.37,0.01,0.347,0.65,0.174,0.25,0.07,0.18,0.66,0.14,92744,94215,ENSG00000185010,ENST00000360256,CCDS35457.1,F8,0.54,benign,0,tolerated,1,-2.94094,0.001,P00451_D1260E,D,E,1260,DE,D1260E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,,,,,,,,,,,,,,,0.957436
381,O75445,N,D,3199,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.37,0.04,0.053,0.078,0.04,0.07,0.14,0.04,0.07,0.04,609517,190986,ENSG00000042781,ENST00000366943,,USH2A,0.61,benign,0.006,tolerated,0.98,-0.600327,1.318,O75445_N3199D,N,D,3199,ND,N3199D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,,,,,,,,,,,,,,,0.962527
389,O75445,V,M,230,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.37,0.01,0.016,0.005,0.021,0.01,0.002,0.003,,0.02,58348,191103,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.15,benign,0.158,tolerated,0.1,1.35793,10.47,O75445_V230M,V,M,230,VM,V230M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,,,,0.960968
284,Q16518,A,T,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,0.001,0,0.002,,,,,,5328,15810,ENSG00000116745,ENST00000262340,CCDS643.1,RPE65,0.25,benign,0.039,tolerated,0.56,1.92716,12.4,Q16518_A132T,A,T,132,AT,A132T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.54,-3.114,1.574,,.,b,0.22,-0.44,2.828,,75.05,0.00247709,0,0.084474,0.800383
299,P11310,I,T,375,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0,,,,,,,,,10849,52,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.89,probably_damaging,0.998,deleterious,0,4.17894,21.6,P11310_I375T,I,T,375,IT,I375T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.54,-3.159,1.619,0.06,H,A,0.7,-1.52,4.423,,88.6,0.00332889,0,0.113522,0.715455
324,Q12882,R,C,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,0.716,0.6,0.775,0.77,0.94,0.77,0.55,0.78,37669,28299,ENSG00000188641,ENST00000306031,CCDS53346.1,DPYD,0.17,possibly_damaging,0.73,tolerated,0.18,3.58529,18.26,Q12882_R29C,R,C,29,RC,R29C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000749932,0,0.0255742,0.954625
527,O60779,W,X,320,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0,,,,,,,,,17116,4884,ENSG00000117479,ENST00000367802,,SLC19A2,0.7,,,,,6.79393,38,O60779_W320X,W,X,320,WX,W320X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000827971,0,0.0282355,0.956807
607,Q9NP85,R,X,138,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,14606,10789,ENSG00000116218,ENST00000367616,,NPHS2,0.44,,,,,5.87019,36,Q9NP85_R138X,R,X,138,RX,R138X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000768682,0,0.0262136,0.977351
652,Q8IZT6,Q,X,2632,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0,,,,,,,,,33788,17225,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.76,,,,,15.359,49,Q8IZT6_Q2632X,Q,X,2632,QX,Q2632X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
759,Q9GZT9,P,R,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,46303,7901,ENSG00000135766,ENST00000366641,CCDS1595.1,EGLN1,0.74,probably_damaging,0.999,deleterious,0,5.5125,35,Q9GZT9_P317R,P,R,317,PR,P317R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.966,-3.75,2.784,0.083,S,A,0.68,-0.43,,,,0.00471785,0,0.160889,0.497958
766,Q99698,Y,X,1687,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0,,,,,,,,,85903,21759,ENSG00000143669,ENST00000389793,CCDS31062.1,LYST,0.44,,,,,11.6136,45,Q99698_Y1687X,Y,X,1687,YX,Y1687X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
791,Q92736,A,G,4844,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,27335,13578,ENSG00000198626,ENST00000542537,,RYR2,0.98,probably_damaging,0.998,deleterious,0,5.03501,29.8,Q92736_A4844G,A,G,4844,AG,A4844G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,,,,,,,,,,,,,,,0.952592
997,P25445,Q,X,252,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,22816,43,ENSG00000026103,ENST00000357339,CCDS7394.1,FAS,0.8,,,,,1.71715,11.7,P25445_Q252X,Q,X,252,QX,Q252X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00410777,0,0.140084,0.955443
1706,Q9Y210,R,C,817,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,2510,113,ENSG00000137672,ENST00000532133,,TRPC6,0.96,probably_damaging,0.977,deleterious,0,4.50664,24.2,Q9Y210_R817C,R,C,817,RC,R817C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00416286,0.00877193,0.141962,0.929023
1733,P24752,G,V,379,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0,,,,,,,,,211,1257,ENSG00000075239,ENST00000265838,CCDS8339.1,ACAT1,0.89,probably_damaging,1,deleterious,0,4.29156,22.4,P24752_G379V,G,V,379,GV,G379V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.15,-3.286,2.136,0.011,.,b,0.73,-0.3,5.661,,82.9,0.00106493,0,0.0363164,0.735473
1742,P35241,Q,X,155,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,15755,4,ENSG00000137710,ENST00000343115,CCDS8343.1,RDX,0.27,,,,,5.58652,35,P35241_Q155X,Q,X,155,QX,Q155X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0010032,0,0.0342111,0.912628
1981,P01116,V,I,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,5459,11526,ENSG00000133703,ENST00000256078,CCDS8703.1,KRAS,0.07,probably_damaging,0.977,deleterious,0,5.27325,33,P01116_V14I,V,I,14,VI,V14I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.782,-2.264,0.482,,S,A,0.04,-1.26,,,,0.00145274,0,0.0495413,0.844821
1982,P01116,K,N,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,5434,11551,ENSG00000133703,ENST00000256078,CCDS8703.1,KRAS,0.03,probably_damaging,0.999,deleterious,0.03,4.21874,21.9,P01116_K5N,K,N,5,KN,K5N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-1.71,-3.051,1.341,0.401,E,B,1.73,0.51,,,,0.00523971,0,0.178685,0.83023
1987,Q96M96,G,X,493,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.03,,,,,,,,,43395,13144,ENSG00000139132,ENST00000546442,,FGD4,0.73,,,,,10.0588,43,Q96M96_G493X,G,X,493,GX,G493X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,,,,0.933822
2171,Q8TAM1,G,E,401,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,1614,693,ENSG00000179941,ENST00000393262,CCDS9014.2,BBS10,0.55,probably_damaging,0.968,deleterious,0,1.64192,11.45,Q8TAM1_G401E,G,E,401,GE,G401E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.04,-3.52,2.48,,,,,,2.962,,73.58,0.00123443,0,0.0420965,0.854791
2177,O15078,L,X,750,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,18392,119,ENSG00000198707,ENST00000552810,CCDS55858.1,CEP290,0.3,,,,,8.29645,40,O15078_L750X,L,X,750,LX,L750X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.000100806,0,0.00343768,0.991522
2192,Q3T906,S,X,1058,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.03,,,,,,,,,16,3164,ENSG00000111670,ENST00000299314,CCDS9088.1,GNPTAB,0.84,,,,,11.733,45,Q3T906_S1058X,S,X,1058,SX,S1058X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00151379,0,0.0516234,0.902951
2677,P49768,G,S,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,347,13797,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.57,probably_damaging,0.998,deleterious,0,5.81967,36,P49768_G262S,G,S,262,GS,G262S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00100837,0,0.0343876,0.923325
2679,P49768,L,V,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,362,13782,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.58,probably_damaging,0.997,deleterious,0,3.65537,18.58,P49768_L267V,L,V,267,LV,L267V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,,,,,,,,,,,,0.000966866,0,0.0329721,0.928213
2769,Q05086,I,T,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,33782,3752,ENSG00000114062,ENST00000566215,CCDS32177.1,UBE3A,0.15,benign,0.344,deleterious,0,3.03828,16.14,Q05086_I130T,I,T,130,IT,I130T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,,,,0.951663
2794,Q7Z699,Q,X,213,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.03,,,,,,,,,97150,7774,ENSG00000166068,ENST00000299084,CCDS32193.1,SPRED1,0.48,,,,,10.8438,44,Q7Z699_Q213X,Q,X,213,QX,Q213X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3266,Q86YC2,Q,X,68,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,71,1582,ENSG00000083093,ENST00000561514,,PALB2,0.76,,,,,5.44193,35,Q86YC2_Q68X,Q,X,68,QX,Q68X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00075588,0,0.0257771,0.98231
3548,O75880,P,L,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,4726,22,ENSG00000133028,ENST00000255390,CCDS11158.1,SCO1,0.58,probably_damaging,1,deleterious,0,5.34594,34,O75880_P174L,P,L,174,PL,P174L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,,,,0.769387
4040,O15118,C,R,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,17539,29219,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.09,probably_damaging,1,deleterious,0,4.735,26.4,O15118_C113R,C,R,113,CR,C113R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-0.679,-4.348,3.669,,H,a,1.66,-0.9,1.147,,32.79,0.000248841,0,0.00848599,0.508197
4120,O43520,L,S,288,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,36560,48819,ENSG00000081923,ENST00000283684,CCDS11965.1,ATP8B1,0.23,probably_damaging,0.975,deleterious,0.01,3.90241,19.84,O43520_L288S,L,S,288,LS,L288S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.117,-3.388,2.271,,,,,,,,,0.00038847,0,0.0132476,0.792843
4548,P04114,Q,X,2279,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0,,,,,,,,,34041,8604,ENSG00000084674,ENST00000233242,CCDS1703.1,APOB,0.5,,,,,10.9891,44,P04114_Q2279X,Q,X,2279,QX,Q2279X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
4556,P40939,I,N,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,647,2350,ENSG00000084754,ENST00000380649,CCDS1721.1,HADHA,0.4,probably_damaging,0.967,deleterious,0,4.28203,22.4,P40939_I305N,I,N,305,IN,I305N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.436,-3.858,2.422,,,,,,,,,0.00165812,0,0.0565452,0.721314
4635,Q07889,M,R,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,156,27081,ENSG00000115904,ENST00000395038,,SOS1,0.2,possibly_damaging,0.536,deleterious,0,4.26593,22.3,Q07889_M269R,M,R,269,MR,M269R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.71,-3.443,1.733,0.955,T,A,1.75,1.35,,,,0.000291345,0,0.00993547,0.93125
4656,Q07837,P,T,615,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.05,,,,,,,,,2919,158,ENSG00000138079,ENST00000260649,CCDS1819.1,SLC3A1,0.9,probably_damaging,0.996,deleterious,0.01,3.39574,17.46,Q07837_P615T,P,T,615,PT,P615T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-0.906,-3.277,2.371,,,,,,,,,0.00546226,0,0.186274,0.779585
4671,P43246,R,P,524,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,63588,16504,ENSG00000095002,ENST00000406134,,MSH2,0.57,probably_damaging,0.998,deleterious,0,4.54771,24.6,P43246_R524P,R,P,524,RP,R524P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.117,-4.151,3.034,,,,,,1.252,,50.64,0.000726809,0,0.0247857,0.815994
4678,P22888,I,K,598,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,18126,254,ENSG00000138039,ENST00000405626,,LHCGR,0.89,possibly_damaging,0.845,deleterious,0,4.29193,22.5,P22888_I598K,I,K,598,IK,I598K,Hydrophobic,PositiveCharge,6.02,9.74,3.72,131,146,15,166.7,168.6,1.9,102,,,,,,,,,,,,0.000755076,0,0.0257496,0.98772
4684,P22888,M,I,544,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,18287,415,ENSG00000138039,ENST00000405626,,LHCGR,0.81,probably_damaging,0.986,deleterious,0,4.28359,22.4,P22888_M544I,M,I,544,MI,M544I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,,,,,,,,,,,,0.00158945,0,0.0542035,0.924415
4755,Q9H902,A,E,27,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.05,,,,,,,,,6,18222,ENSG00000068615,ENST00000538924,CCDS54374.1,REEP1,0.13,probably_damaging,0.993,deleterious,0,4.31225,22.6,Q9H902_A27E,A,E,27,AE,A27E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,,,,,,,,,,,,,,,0.946889
4856,Q99250,L,I,1003,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,58506,26725,ENSG00000136531,ENST00000283256,CCDS33314.1,SCN2A,0.5,possibly_damaging,0.807,tolerated,0.18,3.46641,17.75,Q99250_L1003I,L,I,1003,LI,L1003I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,-1.318,-1.947,0.629,,,,,,20.856,20.856,76.81,,,,0.981846
4872,P35498,V,L,1353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,210,4574,ENSG00000144285,ENST00000423058,,SCN1A,0.67,probably_damaging,0.999,deleterious,0.03,4.60323,25.1,P35498_V1353L,V,L,1353,VL,V1353L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.201,-2.46,1.259,,,,,,,,,2.25e-05,0,0.000768669,0.933355
4886,Q15858,K,R,531,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,0.002,0,0.002,0.002,,0.01,,0.003,24786,26,ENSG00000169432,ENST00000452182,,SCN9A,0.98,benign,0.01,tolerated,0.65,-0.247785,2.807,Q15858_K531R,K,R,531,KR,K531R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,,,,,,,,,,,,,,,0.960858
4976,Q13873,S,X,73,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,124,10190,ENSG00000204217,ENST00000374574,,BMPR2,0.14,,,,,5.60269,36,Q13873_S73X,S,X,73,SX,S73X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000707361,0,0.0241225,0.980409
4981,Q13873,G,D,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,0,0,0,,,,,,137469,52849,ENSG00000204217,ENST00000374574,,BMPR2,0.34,possibly_damaging,0.76,tolerated,0.17,4.72217,26.3,Q13873_G182D,G,D,182,GD,G182D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,,,,,,,,0.00047938,0,0.0163478,0.810788
5014,Q86UK0,N,S,1062,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0,0,0,0,,,,,,45521,53944,ENSG00000144452,ENST00000389661,CCDS33373.1,ABCA12,0.47,probably_damaging,1,deleterious,0,3.99377,20.5,Q86UK0_N1062S,N,S,1062,NS,N1062S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,,,,0.952307
5274,Q9BZ23,G,R,230,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,0,0,0,,,,,,29306,95,ENSG00000125779,ENST00000497424,CCDS13072.1,PANK2,0.82,probably_damaging,1,deleterious,0,5.1382,32,Q9BZ23_G230R,G,R,230,GR,G230R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00222811,0,0.075983,0.954089
5285,Q9BQL6,R,X,14,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,0,0,0,,,,,,8473,31294,ENSG00000101311,ENST00000536936,,FERMT1,0.03,,,,,10.6176,44,Q9BQL6_R14X,R,X,14,RX,R14X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5808,P37231,C,S,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,12995,14146,ENSG00000132170,ENST00000287820,CCDS2609.1,PPARG,0.38,probably_damaging,0.998,deleterious,0,4.81338,27.2,P37231_C190S,C,S,190,CS,C190S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.412,-3.121,1.709,0.2,.,b,0.73,0.53,,,,0.000875114,0,0.0298432,0.83003
5894,P40692,R,X,100,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,6818,10,ENSG00000076242,ENST00000231790,CCDS2663.1,MLH1,0.13,,,,,4.99778,29.3,P40692_R100X,R,X,100,RX,R100X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000187082,0,0.00637988,0.977351
6080,Q3SXY8,R,Q,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,23476,139,ENSG00000169379,ENST00000394222,CCDS2925.1,ARL13B,0.18,probably_damaging,0.996,deleterious,0,5.85095,36,Q3SXY8_R79Q,R,Q,79,RQ,R79Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.000685523,0,0.0233778,0.857498
6229,P30556,T,M,282,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,2082,368,ENSG00000144891,ENST00000404754,CCDS3137.1,AGTR1,0.79,probably_damaging,0.992,deleterious,0.01,2.71631,15.04,P30556_T282M,T,M,282,TM,T282M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.228,-4.443,3.215,,,,,,0.363,,36.77,0.00275971,0,0.0941119,0.834193
6249,P14410,Q,P,1098,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,58764,40834,ENSG00000090402,ENST00000264382,CCDS3196.1,SI,0.6,possibly_damaging,0.803,deleterious,0.01,2.43567,14.1,P14410_Q1098P,Q,P,1098,QP,Q1098P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.68,-3.706,2.026,,,,,,0.729,,44.61,0.000597773,0,0.0203853,0.888327
6368,P01042,R,X,196,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,9910,16362,ENSG00000113889,ENST00000265023,CCDS43183.1,KNG1,0.3,,,,,3.0439,16.16,P01042_R196X,R,X,196,RX,R196X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6404,O60313,Y,C,601,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.07,,,,,,,,,658,352,ENSG00000198836,ENST00000361715,,OPA1,0.61,possibly_damaging,0.872,deleterious,0,4.23431,22,O60313_Y601C,Y,C,601,YC,Y601C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00146351,0,0.0499086,0.88215
6564,Q13563,D,V,511,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,3593,29005,ENSG00000118762,ENST00000237596,CCDS3627.1,PKD2,0.53,probably_damaging,0.998,deleterious,0,4.42004,23.5,Q13563_D511V,D,V,511,DV,D511V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.057,-3.531,2.474,,,,,,,,,0.000935504,0,0.0319026,0.778369
6577,Q8NDB2,R,H,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,0.283,0.244,0.303,0.22,0.15,0.2,0.23,0.29,16093,243830,ENSG00000153064,ENST00000504592,,BANK1,0.06,benign,0.008,tolerated,0.14,1.55374,11.15,Q8NDB2_R46H,R,H,46,RH,R46H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
6620,P08235,C,X,436,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,1308,354210,ENSG00000151623,ENST00000512865,CCDS54811.1,NR3C2,0.5,,,,,6.94457,38,P08235_C436X,C,X,436,CX,C436X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000467275,0,0.015935,0.980504
6662,Q6ZWL3,R,X,320,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,5225,9489,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.61,,,,,8.18419,40,Q6ZWL3_R320X,R,X,320,RX,R320X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00288949,0,0.0985376,0.951177
6750,Q6KC79,R,X,1723,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.03,,,,,,,,,143825,43576,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.64,,,,,14.5132,48,Q6KC79_R1723X,R,X,1723,RX,R1723X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6758,Q6KC79,N,S,2434,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,6280,6968,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.9,possibly_damaging,0.813,deleterious,0.03,4.42587,23.5,Q6KC79_N2434S,N,S,2434,NS,N2434S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.45,-2.763,1.313,,,,,,13.184,13.184,19.54,,,,0.867531
6857,P51659,N,Y,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,0,0,0,,,,,,35,16834,ENSG00000133835,ENST00000414835,,HSD17B4,0.53,probably_damaging,0.993,deleterious,0,3.01352,16.05,P51659_N317Y,N,Y,317,NY,N317Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,,,,,,,,,,,,0.00176973,0,0.0603514,0.92723
6862,P49419,R,X,110,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,10443,51,ENSG00000164904,ENST00000553117,,ALDH7A1,0.23,,,,,4.83039,27.4,P49419_R110X,R,X,110,RX,R110X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000485286,0,0.0165493,0.977351
6886,Q9Y6B6,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.37,0,,,,,,,,,3036,11392,ENSG00000152700,ENST00000507419,,SAR1B,,,,,,4.7338,26.4,Q9Y6B6_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7070,P15924,Q,X,331,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,7142,611,ENSG00000096696,ENST00000379802,CCDS4501.1,DSP,0.12,,,,,7.87132,39,P15924_Q331X,Q,X,331,QX,Q331X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7179,P22033,A,E,377,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,11524,21308,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.5,probably_damaging,0.991,deleterious,0,4.89035,28.1,P22033_A377E,A,E,377,AE,A377E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.078,-3.535,2.457,,H,A,1.04,-1.15,3.654,,70.8,0.00113539,0,0.0387191,0.554872
7213,Q9UM54,E,V,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,23155,75935,ENSG00000196586,ENST00000369985,,MYO6,0.17,benign,0.075,tolerated,0.09,3.33905,17.24,Q9UM54_E216V,E,V,216,EV,E216V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,-1.514,-3.39,1.876,0.706,T,A,1.48,0.6,1.934,,78.83,0.000575253,0,0.0196173,0.944205
7215,Q9UM54,C,Y,442,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,39675,59415,ENSG00000196586,ENST00000369985,,MYO6,0.35,probably_damaging,0.999,deleterious,0,4.77553,26.8,Q9UM54_C442Y,C,Y,442,CY,C442Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,0.305,T,A,0.25,0.97,,,,0.000358286,0,0.0122183,0.774393
7225,Q86YH6,Q,X,322,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,1677,12642,ENSG00000164494,ENST00000369037,CCDS5059.1,PDSS2,0.81,,,,,8.166,40,Q86YH6_Q322X,Q,X,322,QX,Q322X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7369,Q9H0P0,G,R,241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0,,,,,,,,,186,1011,ENSG00000122643,ENST00000405342,CCDS34617.1,NT5C3,0.81,probably_damaging,0.987,deleterious,0,5.01633,29.6,Q9H0P0_G241R,G,R,241,GR,G241R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.145,-3.708,2.563,0.184,E,b,0.91,-0.63,2.042,,64.58,0.00623794,0,0.212727,0.616068
7526,Q9UJS0,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.37,0.04,,,,,,,,,128976,113,ENSG00000004864,ENST00000265631,CCDS5645.1,SLC25A13,,,,,,4.50981,24.2,Q9UJS0_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7573,O15409,R,H,461,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,33517,7909,ENSG00000128573,ENST00000393489,,FOXP2,0.74,,,deleterious,0,3.80182,19.3,O15409_R461H,R,H,461,RH,R461H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
7586,P13569,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.37,0.01,0,0,0,,,,,,51020,137,ENSG00000001626,ENST00000426809,,CFTR,,,,,,4.74764,26.5,P13569_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7602,P13569,Q,X,463,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0,0,0,0,,,,,,91,28202,ENSG00000001626,ENST00000426809,,CFTR,0.32,,,,,7.8697,39,P13569_Q463X,Q,X,463,QX,Q463X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,9.99e-05,0,0.00340608,0.989951
7604,P13569,F,C,478,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,0.001,0.001,0.002,0.002,,,,0.01,45,28156,ENSG00000001626,ENST00000426809,,CFTR,0.33,probably_damaging,1,deleterious,0,4.28569,22.4,P13569_F478C,F,C,478,FC,F478C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,,,,,,,,,,,,0.000583582,0,0.0199013,0.956177
7609,P13569,S,I,519,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,28162,51,ENSG00000001626,ENST00000426809,,CFTR,0.36,probably_damaging,1,deleterious,0,5.0186,29.6,P13569_S519I,S,I,519,SI,S519I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-2.366,-3.605,1.239,0.12,H,A,0.75,-0.64,5.486,5.486,79.05,0.000318455,0,0.01086,0.772127
7615,P13569,A,E,524,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,28177,66,ENSG00000001626,ENST00000426809,,CFTR,0.36,probably_damaging,1,deleterious,0,5.04695,29.9,P13569_A524E,A,E,524,AE,A524E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,,,,,,,,,,,,0.000225575,0,0.00769258,0.979829
7633,P13569,Q,X,860,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.03,,,,,,,,,123447,63530,ENSG00000001626,ENST00000426809,,CFTR,0.6,,,,,4.5846,24.9,P13569_Q860X,Q,X,860,QX,Q860X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00092924,0,0.031689,0.98231
7765,Q8NEM0,T,R,27,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0,,,,,,,,,2693,36555,ENSG00000147316,ENST00000519480,CCDS55190.1,MCPH1,0.04,probably_damaging,0.991,deleterious,0,4.14276,21.4,Q8NEM0_T27R,T,R,27,TR,T27R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.571,-4.142,2.571,,,,,,1.973,,6.83,0.000812383,0,0.0277039,0.780802
7769,P21757,D,Y,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0,0.006,0.017,0,0.01,,0.01,0.03,,9421,27913,ENSG00000038945,ENST00000350896,CCDS5996.1,MSR1,0.45,probably_damaging,0.961,deleterious,0,1.22709,9.977,P21757_D174Y,D,Y,174,DY,D174Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.55,-4.292,2.742,,,,,,1.409,,80.04,0.00138387,0,0.0471929,0.837089
7826,Q56NI9,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.37,0.01,0,0,0,,,,,,7804,11599,ENSG00000171320,ENST00000305188,CCDS34872.1,ESCO2,,,,,,2.91573,15.72,Q56NI9_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7918,O60934,Q,X,326,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,19977,30944,ENSG00000104320,ENST00000265433,CCDS6249.1,NBN,0.43,,,,,6.0088,37,O60934_Q326X,Q,X,326,QX,Q326X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00161021,0,0.0549116,0.904853
7954,O60353,R,C,511,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,28452,1566,ENSG00000164930,ENST00000358755,CCDS6298.1,FZD6,0.72,probably_damaging,0.999,deleterious,0,4.90164,28.2,O60353_R511C,R,C,511,RC,R511C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.32,-4.958,3.638,,,,,,0.705,,80.45,0.00222045,0.0102564,0.0757221,0.81709
8149,O15269,C,W,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,28725,191,ENSG00000090054,ENST00000262554,CCDS6692.1,SPTLC1,0.28,probably_damaging,1,deleterious,0,3.80587,19.32,O15269_C133W,C,W,133,CW,C133W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.412,-4.833,3.421,,,,,,,,,0.00127922,0,0.0436242,0.701381
8150,O15269,C,Y,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,28724,192,ENSG00000090054,ENST00000262554,CCDS6692.1,SPTLC1,0.28,probably_damaging,1,deleterious,0,4.35586,22.9,O15269_C133Y,C,Y,133,CY,C133Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,0.00127922,0,0.0436242,0.715502
8215,O75072,A,T,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0,,,,,,,,,26199,3077,ENSG00000106692,ENST00000540160,,FKTN,0.42,possibly_damaging,0.872,deleterious,0,4.42418,23.5,O75072_A114T,A,T,114,AT,A114T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.31,-2.72,1.41,,,,,,6.828,6.828,88.07,0.000871338,0,0.0297144,0.977179
8221,O75072,Y,C,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0,0,0,0,,,,,,2042,15300,ENSG00000106692,ENST00000357998,CCDS56580.1,FKTN,0.86,probably_damaging,1,deleterious,0.02,4.2033,21.8,O75072_Y371C,Y,C,371,YC,Y371C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.294,-3.641,2.347,,,,,,44.241,44.241,91.54,0.0038655,0,0.131821,0.839845
8346,Q9H9B1,R,X,260,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,452,602,ENSG00000181090,ENST00000334856,,EHMT1,0.32,,,,,6.8763,38,Q9H9B1_R260X,R,X,260,RX,R260X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000211478,0,0.00721185,0.977351
8405,O15537,L,P,13,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.05,,,,,,,,,79,32121,ENSG00000102104,ENST00000379984,CCDS14187.1,RS1,0.06,benign,0.075,deleterious,0,2.39593,13.97,O15537_L13P,L,P,13,LP,L13P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,,,,,,,,,0.000508147,0,0.0173288,0.810742
8455,Q9NZN1,Y,X,459,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.03,,,,,,,,,1165762,715,ENSG00000169306,ENST00000378993,CCDS14218.1,IL1RAPL1,0.66,,,,,7.3886,39,Q9NZN1_Y459X,Y,X,459,YX,Y459X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
8501,P11532,R,X,1314,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,689989,73691,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.36,,,,,11.7371,45,P11532_R1314X,R,X,1314,RX,R1314X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8530,P04839,P,R,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,5670,190,ENSG00000165168,ENST00000536160,,CYBB,0.12,probably_damaging,0.982,deleterious,0,4.35733,23,P04839_P37R,P,R,37,PR,P37R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-2.277,-3.73,1.453,,,,,,9.046,,93.68,0.00165767,0,0.0565301,0.947814
8556,P00480,G,C,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,14723,36340,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.11,probably_damaging,0.997,deleterious,0.01,3.29716,17.08,P00480_G39C,G,C,39,GC,G39C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.384,-5.278,3.894,0.598,T,l,0.75,-0.21,0.975,,49.15,0.00413312,0,0.140948,0.614279
8560,P00480,L,F,43,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,14735,36328,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.12,probably_damaging,0.996,deleterious,0,2.84344,15.47,P00480_L43F,L,F,43,LF,L43F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.209,-4.005,2.796,0.117,S,A,0.03,-0.48,2.26,,46.05,0.00430739,0,0.146891,0.644648
8570,P00480,E,K,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,14762,36301,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.15,probably_damaging,0.996,deleterious,0,4.28112,22.4,P00480_E52K,E,K,52,EK,E52K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.279,-3.517,2.238,0.182,H,A,1.3,-0.09,4.366,,48.87,0.00367749,0,0.12541,0.639199
8571,P00480,E,X,52,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.03,,,,,,,,,14762,36301,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.15,,,,,6.14263,37,P00480_E52X,E,X,52,EX,E52X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00367749,0,0.12541,0.953272
8572,P00480,E,G,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,14763,36300,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.15,probably_damaging,0.996,deleterious,0,4.08868,21,P00480_E52G,E,G,52,EG,E52G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.279,-2.854,1.575,0.182,H,A,0.75,-0.09,20.452,20.452,48.87,0.00367749,0,0.12541,0.757991
8573,P00480,E,D,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,14764,36299,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.15,probably_damaging,0.987,deleterious,0,3.92821,19.99,P00480_E52D,E,D,52,ED,E52D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.279,-2.173,0.894,0.182,H,A,0.29,-0.09,16.586,16.586,48.87,0.00367749,0,0.12541,0.807759
8580,P00480,S,L,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,14787,36276,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.17,probably_damaging,0.97,deleterious,0,4.53124,24.4,P00480_S60L,S,L,60,SL,S60L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.779,-3.634,1.855,0.008,H,A,0.82,-0.92,4.844,,76.55,0.00439151,0,0.14976,0.717051
8597,P00480,K,N,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,17238,33825,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.25,probably_damaging,1,deleterious,0,4.16495,21.5,P00480_K88N,K,N,88,KN,K88N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-0.79,-2.342,1.552,0.086,S,B,1.73,-0.32,13.152,13.152,37.29,0.00179016,0,0.061048,0.682383
8600,P00480,S,R,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,17244,33819,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.25,probably_damaging,1,deleterious,0,3.93402,20.1,P00480_S90R,S,R,90,SR,S90R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-0.777,-3.886,3.109,0.256,.,b,0.93,-0.62,1.304,,37.29,0.000902161,0,0.0307656,0.610321
8637,P00480,D,V,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,69,2373,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.38,probably_damaging,0.925,deleterious,0,4.3508,22.9,P00480_D136V,D,V,136,DV,D136V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.38,-3.917,2.537,0.341,S,A,1.19,-0.4,3.455,,57.91,0.00330103,0,0.112572,0.627591
8863,O75695,Y,X,151,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0,,,,,,,,,16886,28533,ENSG00000102218,ENST00000218340,CCDS14270.1,RP2,0.43,,,,,5.62325,36,O75695_Y151X,Y,X,151,YX,Y151X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00260991,0,0.0890033,0.945391
9073,P46100,R,G,2233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0,,,,,,,,,262935,18390,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.91,probably_damaging,0.978,,,1.65721,11.5,P46100_R2233G,R,G,2233,RG,R2233G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,,,,0.902988
9076,P46100,Y,H,2046,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.04,,,,,,,,,211912,69413,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.83,probably_damaging,0.994,,,3.31101,17.13,P46100_Y2046H,Y,H,2046,YH,Y2046H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,,,,0.949803
9122,Q8WVV4,R,Q,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,0.004,0.007,0.003,0.004,,0.01,0.01,,71504,26073,ENSG00000124429,ENST00000373145,,POF1B,0.55,benign,0.021,deleterious,0.01,3.10299,16.37,Q8WVV4_R329Q,R,Q,329,RQ,R329Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.56,-2.32,0.76,,,,,,17.688,17.688,82.68,0.00288132,0,0.0982588,0.997696
9468,Q9BZI7,R,X,417,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,7484,496,ENSG00000125351,ENST00000345865,CCDS14587.1,UPF3B,0.89,,,,,6.02594,37,Q9BZI7_R417X,R,X,417,RX,R417X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00675243,0,0.230272,0.922583
9569,P00740,Q,X,57,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.04,,,,,,,,,6325,11303,ENSG00000101981,ENST00000394090,,F9,0.13,,,,,3.46636,17.75,P00740_Q57X,Q,X,57,QX,Q57X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00281193,0,0.0958927,0.955443
9572,P00740,E,V,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,6374,11254,ENSG00000101981,ENST00000394090,,F9,0.17,probably_damaging,1,deleterious,0,4.03729,20.7,P00740_E73V,E,V,73,EV,E73V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,-1.075,-3.346,2.271,0.203,H,A,1.48,-0.2,,,,0.000512727,0,0.017485,0.659
9573,P00740,R,X,75,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,6379,11249,ENSG00000101981,ENST00000394090,,F9,0.18,,,,,4.87442,27.9,P00740_R75X,R,X,75,RX,R75X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00208025,0,0.0709408,0.959275
9580,P00740,D,N,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,10361,7267,ENSG00000101981,ENST00000218099,CCDS14666.1,F9,0.24,probably_damaging,0.996,deleterious,0,4.75292,26.6,P00740_D110N,D,N,110,DN,D110N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.985,-3.04,2.055,0.159,E,B,0.14,1.37,,,,0.00206291,0,0.0703495,0.770904
9581,P00740,D,G,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,10362,7266,ENSG00000101981,ENST00000218099,CCDS14666.1,F9,0.24,possibly_damaging,0.859,deleterious,0.03,4.21731,21.9,P00740_D110G,D,G,110,DG,D110G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.985,-2.95,1.965,0.159,E,B,0.46,1.37,,,,0.00206291,0,0.0703495,0.744626
9585,P00740,R,C,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,0,0,0,,,,,,20347,10960,ENSG00000101981,ENST00000394090,,F9,0.36,probably_damaging,0.984,deleterious,0,1.78538,11.93,P00740_R153C,R,C,153,RC,R153C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00287303,0,0.0979761,0.929023
9586,P00740,R,H,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.01,,,,,,,,,20348,10959,ENSG00000101981,ENST00000394090,,F9,0.36,probably_damaging,0.984,deleterious,0.03,2.66272,14.86,P00740_R153H,R,H,153,RH,R153H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00287303,0,0.0979761,0.975921
9625,P00740,K,X,419,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.37,0.01,,,,,,,,,31289,18,ENSG00000101981,ENST00000394090,,F9,0.99,,,,,4.48581,24,P00740_K419X,K,X,419,KX,K419X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00319493,0,0.108954,0.955443
9650,P22304,S,Y,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.37,0.03,,,,,,,,,2357,2844,ENSG00000010404,ENST00000370443,,IDS,0.46,possibly_damaging,0.532,deleterious,0.01,2.61666,14.71,P22304_S142Y,S,Y,142,SY,S142Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.524,-4.072,2.548,,,,,,1.595,,86.18,0.00326326,0.00245098,0.111284,0.857168
62,Q96SN8,E,Q,289,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.38,0.01,0.848,0.693,0.928,0.82,0.72,0.9,0.71,0.94,3798,852,ENSG00000136861,ENST00000349780,CCDS6823.1,CDK5RAP2,0.15,benign,0.423,tolerated,0.19,1.69426,11.62,Q96SN8_E289Q,E,Q,289,EQ,E289Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-1.434,-2.158,0.724,,,,,,3.797,3.797,63.71,,,,0.9396
77,Q96RK4,I,V,28,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.38,0.01,,,,,,,,,22964,7138,ENSG00000140463,ENST00000569338,,BBS4,0.1,benign,0.007,tolerated,0.23,1.99082,12.61,Q96RK4_I28V,I,V,28,IV,I28V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.00250474,0.00203666,0.099057,0.988163
112,Q8IZT6,L,R,3132,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.38,0,0.035,0.009,0.048,0.02,,0.03,0.004,0.04,43189,7824,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.9,benign,0.008,tolerated,0.1,1.42989,10.72,Q8IZT6_L3132R,L,R,3132,LR,L3132R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.93,-2.816,0.886,,,,,,27.29,27.29,13.63,,,,0.868897
113,Q8IZT6,L,I,2647,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.38,0.01,0.323,0.104,0.435,0.25,0.17,0.28,0.04,0.42,33833,17180,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.76,benign,0.306,tolerated,0.31,0.473256,6.569,Q8IZT6_L2647I,L,I,2647,LI,L2647I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,-1.772,-2.421,0.649,,,,,,17.196,17.196,18.69,,,,0.92596
115,Q8IZT6,R,G,430,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.38,0.03,0.013,0.039,0,0.01,,0.01,0.04,,3731,58836,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.12,benign,0.013,tolerated,0.06,0.083385,4.45,Q8IZT6_R430G,R,G,430,RG,R430G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-2.106,-2.767,0.661,,,,,,20.778,20.778,11.65,,,,0.860531
128,Q56NI9,A,V,80,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.38,0.03,0.099,0.098,0.099,0.13,0.24,0.09,0.11,0.09,37,161,ENSG00000171320,ENST00000523566,,ESCO2,0.43,benign,0.001,tolerated,0.12,0.246103,5.329,Q56NI9_A80V,A,V,80,AV,A80V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.707,-2.079,0.372,,,,,,21.726,21.726,93.01,0.00133759,0,0.052899,1.00935
288,P13569,V,M,440,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.38,0.01,0.598,0.85,0.468,0.54,0.35,0.53,0.91,0.44,160,28271,ENSG00000001626,ENST00000426809,,CFTR,0.31,benign,0.003,tolerated,1,-0.407418,2.095,P13569_V440M,V,M,440,VM,V440M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-2.059,-4.693,2.634,0.275,S,A,0.11,-0.76,1.784,,89.93,0.00053354,0,0.0211004,0.778986
335,P02768,V,E,146,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.38,0.01,,,,,,,,,122,60,ENSG00000163631,ENST00000509063,,ALB,0.24,benign,0.016,tolerated,0.81,0.304363,5.649,P02768_V146E,V,E,146,VE,V146E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-2.219,-1.937,-0.282,0.6,H,A,1.48,-0.39,23.462,23.462,81.28,0.00151016,0,0.0597236,0.95156
350,P00740,H,Y,265,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.38,0.04,0,0,0.001,,,,,,30827,480,ENSG00000101981,ENST00000394090,,F9,0.63,benign,0.013,tolerated,0.9,-1.60541,0.014,P00740_H265Y,H,Y,265,HY,H265Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.0012349,0,0.0488378,0.916375
147,P11171,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.38,0,,,,,,,,,78911,34,ENSG00000159023,ENST00000373800,CCDS331.1,EPB41,0,possibly_damaging,0.485,deleterious,0,3.8803,19.72,P11171_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.541,-3.198,1.657,,,,,,,,,0.00066503,0.0023175,0.0226789,0.911503
148,P11171,M,R,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.38,0,,,,,,,,,78911,34,ENSG00000159023,ENST00000373800,CCDS331.1,EPB41,0,possibly_damaging,0.691,deleterious,0,4.34881,22.9,P11171_M1R,M,R,1,MR,M1R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.541,-3.485,1.944,,,,,,,,,0.00066503,0.0023175,0.0226789,0.889927
180,O75844,P,L,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,13902,22176,ENSG00000084073,ENST00000372759,CCDS449.1,ZMPSTE24,0.52,probably_damaging,0.997,deleterious,0,4.98383,29.2,O75844_P248L,P,L,248,PL,P248L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,,,,,,,,,,,,0.777772
181,O75844,W,R,340,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,27881,8197,ENSG00000084073,ENST00000372759,CCDS449.1,ZMPSTE24,0.72,probably_damaging,0.982,deleterious,0,4.18464,21.7,O75844_W340R,W,R,340,WR,W340R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.301,-3.893,2.592,,,,,,,,,,,,0.759519
277,Q9Y672,S,P,480,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,8690,206,ENSG00000088035,ENST00000263440,,ALG6,0.94,probably_damaging,0.984,deleterious,0,3.82761,19.44,Q9Y672_S480P,S,P,480,SP,S480P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,,,,0.953006
287,P32929,Q,E,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,19005,7,ENSG00000116761,ENST00000411986,CCDS53333.1,CTH,0.56,probably_damaging,0.989,deleterious,0,3.4544,17.7,P32929_Q208E,Q,E,208,QE,Q208E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,,,,,,,,,,,,0.00302252,0,0.103074,0.979081
288,P32929,S,I,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,0.238,0.108,0.304,0.23,0.22,0.36,0.08,0.27,4266,88,ENSG00000116761,ENST00000411986,CCDS53333.1,CTH,0.99,benign,0.014,deleterious,0.01,-0.15773,3.23,P32929_S371I,S,I,371,SI,S371I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,,,,,,,,,,,,0.00335705,0,0.114482,0.949277
290,P11310,T,I,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,1087,62,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.29,possibly_damaging,0.632,deleterious,0.01,5.17874,32,P11310_T121I,T,I,121,TI,T121I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.245,-3.296,2.051,0.058,H,A,0.7,0.16,,,,0.00379894,0,0.129552,0.703621
296,P11310,G,R,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,0,0,0,,,,,,12,10,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.63,probably_damaging,0.998,deleterious,0,5.4256,35,P11310_G267R,G,R,267,GR,G267R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.149,T,l,0.91,0.91,,,,0.00256981,0,0.0876358,0.649922
328,P11182,X,L,483,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.38,0.01,,,,,,,,,53579,2076,ENSG00000137992,ENST00000370132,CCDS767.1,DBT,1,,,,,2.69863,14.98,P11182_X483L,X,L,483,XL,X483L,Stop,Hydrophobic,5.71,9.71,4,132.5,131,-1.5,141.9,166.7,24.8,,,,,,,,,,,,,,,,0.935063
331,P11182,F,C,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,0,0,0,,,,,,34892,4386,ENSG00000137992,ENST00000370131,,DBT,0.86,probably_damaging,1,deleterious,0,4.32043,22.7,P11182_F276C,F,C,276,FC,F276C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.4,-4.633,3.233,0.391,E,B,0.12,-1.02,1.29,,81.33,0.00202862,0,0.0691802,0.62119
351,Q8TAA9,R,Q,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,0,0,0,,,,,,11228,1705,ENSG00000173218,ENST00000355485,CCDS883.1,VANGL1,0.52,possibly_damaging,0.728,deleterious,0,5.22128,33,Q8TAA9_R274Q,R,Q,274,RQ,R274Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.511,-3.26,1.749,,,,,,3.15,,59.16,0.00188809,0,0.0643878,0.948962
571,Q6PI48,R,H,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.07,0,0,0,,,,,,8760,25126,ENSG00000117593,ENST00000361951,CCDS1311.1,DARS2,0.28,probably_damaging,0.994,deleterious,0,5.61575,36,Q6PI48_R179H,R,H,179,RH,R179H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.672,-4.396,3.724,,,,,,,,,0.00020004,0,0.00682178,0.819866
606,Q9NP85,R,Q,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,0.001,0,0.001,,,,,,14607,10788,ENSG00000116218,ENST00000367616,,NPHS2,0.44,,,deleterious,0,4.41709,23.4,Q9NP85_R138Q,R,Q,138,RQ,R138Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.000768682,0,0.0262136,0.890849
629,Q6P1J9,L,P,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,2701,13003,ENSG00000134371,ENST00000367435,CCDS1382.1,CDC73,0.12,probably_damaging,0.906,deleterious,0,4.50622,24.2,Q6P1J9_L64P,L,P,64,LP,L64P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,,,,,,,,,0.0010286,0,0.0350774,0.735933
631,P08603,Q,X,344,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.04,,,,,,,,,13137,11439,ENSG00000000971,ENST00000359637,,CFH,0.89,,,,,2.84952,15.49,P08603_Q344X,Q,X,344,QX,Q344X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00066771,0,0.0227703,0.98231
636,P08603,V,A,1197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.07,,,,,,,,,70219,298,ENSG00000000971,ENST00000367429,CCDS1385.1,CFH,0.97,benign,0.297,tolerated,0.09,0.816633,8.286,P08603_V1197A,V,A,1197,VA,V1197A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.394,-2.87,1.476,,,,,-0.16,3.401,,63.85,0.00531988,0,0.181419,0.772189
644,Q8IZT6,K,X,3199,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.04,,,,,,,,,44254,6759,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.92,,,,,16.6427,50,Q8IZT6_K3199X,K,X,3199,KX,K3199X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
645,Q8IZT6,S,X,3186,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.04,,,,,,,,,44216,6797,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.92,,,,,18.5244,51,Q8IZT6_S3186X,S,X,3186,SX,S3186X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
646,Q8IZT6,Q,P,3180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,0,0,0,0.001,,0.003,,,44198,6815,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.91,possibly_damaging,0.694,deleterious,0.02,2.31615,13.7,Q8IZT6_Q3180P,Q,P,3180,QP,Q3180P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-2.099,-4.149,2.05,,,,,,1.514,,81.59,,,,0.861925
665,Q8IZT6,W,X,989,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.05,,,,,,,,,9984,41029,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.28,,,,,10.2452,43,Q8IZT6_W989X,W,X,989,WX,W989X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
714,O75445,C,F,419,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,0,0,0,,,,,,99157,150294,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.27,probably_damaging,0.996,deleterious,0,4.48391,24,O75445_C419F,C,F,419,CF,C419F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.111,-3.923,2.812,,,,,,,,,,,,0.750145
864,P28329,V,L,388,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,37454,13217,ENSG00000070748,ENST00000351556,CCDS7233.1,CHAT,0.62,possibly_damaging,0.766,deleterious,0.03,4.6152,25.2,P28329_V388L,V,L,388,VL,V388L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.236,-1.875,0.639,,E,B,0.11,-0.43,16.466,16.466,43.85,0.00246665,0,0.084118,0.879819
932,P62847,R,X,16,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.05,,,,,,,,,42,261,ENSG00000138326,ENST00000360830,CCDS7356.1,RPS24,0.12,,,,,2.87706,15.58,P62847_R16X,R,X,16,RX,R16X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
965,P00367,R,K,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,32,68,ENSG00000148672,ENST00000277865,CCDS7382.1,GLUD1,0.57,benign,0.09,tolerated,0.41,3.4057,17.5,P00367_R318K,R,K,318,RK,R318K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,-1.398,-2.517,1.119,0.209,H,A,1.14,0.13,,,,0.00413119,0,0.140882,0.854841
977,P60484,H,R,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,7604,361,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.31,probably_damaging,1,deleterious,0,4.55135,24.6,P60484_H123R,H,R,123,HR,H123R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.627,-3.165,1.538,,,,,,,,,0.000728898,0,0.0248569,0.927393
978,P60484,C,R,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,7606,359,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.31,probably_damaging,1,deleterious,0,4.3542,22.9,P60484_C124R,C,R,124,CR,C124R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.6,-3.84,2.24,,,,,,,,,0.000660463,0,0.0225231,0.807579
989,P25445,R,W,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,17467,83,ENSG00000026103,ENST00000357339,CCDS7394.1,FAS,0.39,probably_damaging,0.981,deleterious,0,2.23582,13.43,P25445_R121W,R,W,121,RW,R121W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.874,-5.266,3.392,,,,,,0.386,,58.21,0.00352707,0,0.12028,0.842282
993,P25445,R,P,229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,22748,14,ENSG00000026103,ENST00000357339,CCDS7394.1,FAS,0.73,probably_damaging,1,deleterious,0,3.28691,17.04,P25445_R229P,R,P,229,RP,R229P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00340663,0,0.116173,0.936486
996,P25445,T,I,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,22808,35,ENSG00000026103,ENST00000357339,CCDS7394.1,FAS,0.79,probably_damaging,0.92,deleterious,0,2.31543,13.7,P25445_T249I,T,I,249,TI,T249I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00344315,0,0.117418,0.963657
1117,P04181,R,L,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,191,222,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.05,probably_damaging,0.995,deleterious,0,3.75081,19.04,P04181_R16L,R,L,16,RL,R16L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.565,-3.298,1.733,,,,,,2.109,,74.94,0.000870633,0,0.0296904,0.944518
1118,P04181,C,F,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,96,7,ENSG00000065154,ENST00000368845,CCDS7639.1,OAT,0.21,probably_damaging,0.942,deleterious,0,4.48751,24,P04181_C93F,C,F,93,CF,C93F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.412,-3.803,2.391,0.543,T,l,0.12,0.84,,,,0.00239574,0,0.0816997,0.722127
1225,P02042,G,R,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,1719,74,ENSG00000223609,ENST00000292901,,HBD,0.83,benign,0,deleterious,0.03,1.34783,10.43,P02042_G117R,G,R,117,GR,G117R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.0106146,0,0.361979,0.927282
1262,Q6VVX0,L,P,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,0.002,0.005,0,0.001,,,0.004,,6,5213,ENSG00000186104,ENST00000334636,CCDS7818.1,CYP2R1,0.2,probably_damaging,1,deleterious,0,4.69154,26,Q6VVX0_L99P,L,P,99,LP,L99P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,0.022,I,A,1.07,-0.73,,,,0.00165297,0,0.0563698,0.565983
1324,P26367,K,X,202,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,1375,2,ENSG00000007372,ENST00000531633,,PAX6,0.67,,,,,3.40436,17.5,P26367_K202X,K,X,202,KX,K202X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00319939,0,0.109106,0.955443
1699,P49959,T,K,481,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.05,,,,,,,,,34345,3151,ENSG00000020922,ENST00000323977,CCDS8298.1,MRE11A,0.71,probably_damaging,0.978,deleterious,0.02,5.14855,32,P49959_T481K,T,K,481,TK,T481K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.149,-3.234,2.085,,,,,,,,,0.00137429,0,0.0468661,0.767548
1705,Q9Y210,E,K,819,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,2516,107,ENSG00000137672,ENST00000532133,,TRPC6,0.96,probably_damaging,0.991,deleterious,0,5.56581,35,Q9Y210_E819K,E,K,819,EK,E819K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00368329,0,0.125608,0.963428
1715,Q8NCM8,R,C,587,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,15622,354056,ENSG00000187240,ENST00000398093,CCDS44717.1,DYNC2H1,0.14,probably_damaging,0.999,deleterious,0,4.37193,23.1,Q8NCM8_R587C,R,C,587,RC,R587C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,,,,0.719288
1723,Q8NCM8,D,G,3015,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,0,0,0,,,,,,111145,258533,ENSG00000187240,ENST00000398093,CCDS44717.1,DYNC2H1,0.7,probably_damaging,0.996,deleterious,0.01,4.92013,28.4,Q8NCM8_D3015G,D,G,3015,DG,D3015G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.057,-2.91,1.853,,,,,,,,,,,,0.840245
1727,P24752,N,S,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,366,16,ENSG00000075239,ENST00000265838,CCDS8339.1,ACAT1,0.22,benign,0.196,deleterious,0,2.8874,15.62,P24752_N93S,N,S,93,NS,N93S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.321,-2.885,1.564,,.,b,0.34,-1.42,3.486,,82.67,0.00408473,0,0.139298,0.734597
1734,P24752,A,T,380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,213,1255,ENSG00000075239,ENST00000265838,CCDS8339.1,ACAT1,0.89,probably_damaging,0.996,deleterious,0,5.26259,33,P24752_A380T,A,T,380,AT,A380T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.486,-2.068,0.582,,H,A,0.22,-0.45,16.125,16.125,82.9,0.0025251,0,0.0861112,0.91227
1847,O75845,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.38,0.03,,,,,,,,,1494,22,ENSG00000109929,ENST00000534230,,SC5DL,,,,,,4.63027,25.4,O75845_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1992,Q99959,R,X,79,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,17736,88167,ENSG00000057294,ENST00000340811,CCDS31771.1,PKP2,0.09,,,,,7.19409,38,Q99959_R79X,R,X,79,RX,R79X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2179,O15078,W,C,7,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,254,5529,ENSG00000198707,ENST00000309041,,CEP290,0,probably_damaging,0.999,deleterious,0,3.90366,19.85,O15078_W7C,W,C,7,WC,W7C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.386,-4.702,3.316,,,,,,0.941,,86.81,0.000245785,0,0.00838179,0.826895
2183,O60938,T,K,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,2346,5147,ENSG00000139330,ENST00000266719,CCDS9037.1,KERA,0.61,probably_damaging,0.954,deleterious,0.01,3.99935,20.5,O60938_T215K,T,K,215,TK,T215K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.214,-3.378,2.164,,,,,,1.652,,62.22,0.00309856,0,0.105667,0.865532
2275,Q06124,Y,C,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,54109,13901,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.47,possibly_damaging,0.725,tolerated,0.08,4.11366,21.2,Q06124_Y279C,Y,C,279,YC,Y279C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.437,-4.544,3.107,0.42,.,B,0.25,-0.02,,,,0.00134541,0,0.0458811,0.730311
2368,Q9NZJ4,F,S,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,14769,11882,ENSG00000151835,ENST00000402364,,SACS,0.08,probably_damaging,0.971,deleterious,0,3.61035,18.38,Q9NZJ4_F304S,F,S,304,FS,F304S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,,,,0.899145
2374,P51587,E,X,1550,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,23523,60208,ENSG00000139618,ENST00000544455,CCDS9344.1,BRCA2,0.45,,,,,8.47228,40,P51587_E1550X,E,X,1550,EX,E1550X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
2377,P51587,Q,X,3066,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,245,590,ENSG00000139618,ENST00000544455,CCDS9344.1,BRCA2,0.9,,,,,18.3312,51,P51587_Q3066X,Q,X,3066,QX,Q3066X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
2455,P05165,R,X,262,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0,,,,,,,,,179648,261702,ENSG00000175198,ENST00000376286,CCDS45065.1,PCCA,0.37,,,,,6.95648,38,P05165_R262X,R,X,262,RX,R262X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2470,P49917,T,I,9,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.07,0.137,0.103,0.155,0.15,0.19,0.18,0.08,0.16,3540,3026,ENSG00000174405,ENST00000405925,CCDS9508.1,LIG4,0.01,possibly_damaging,0.435,deleterious,0,2.67213,14.9,P49917_T9I,T,I,9,TI,T9I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.561,-2.296,0.735,,,,,,24.768,24.768,91.22,0.00100442,0,0.0342528,1.00598
2579,O43405,C,Y,393,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,46,377,ENSG00000100473,ENST00000382493,,COCH,0.98,probably_damaging,0.994,deleterious,0,3.9463,20.2,O43405_C393Y,C,Y,393,CY,C393Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00322841,0,0.110095,0.941339
2580,O43405,C,F,393,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,46,377,ENSG00000100473,ENST00000382493,,COCH,0.98,probably_damaging,0.994,deleterious,0,3.88179,19.73,O43405_C393F,C,F,393,CF,C393F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,0.00322841,0,0.110095,0.941443
2678,P49768,P,S,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,350,13794,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.57,probably_damaging,0.97,deleterious,0.03,4.71777,26.2,P49768_P263S,P,S,263,PS,P263S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.00309003,0,0.105376,0.967518
2683,P49768,C,Y,406,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,11072,67,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.88,probably_damaging,0.999,deleterious,0,4.80778,27.2,P49768_C406Y,C,Y,406,CY,C406Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00472965,0,0.161291,0.927955
2760,Q9UPY3,R,X,544,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.04,,,,,,,,,7701,3445,ENSG00000100697,ENST00000343455,CCDS9931.1,DICER1,0.28,,,,,8.25604,40,Q9UPY3_R544X,R,X,544,RX,R544X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2767,Q05086,W,X,768,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,65288,1082,ENSG00000114062,ENST00000566215,CCDS32177.1,UBE3A,0.9,,,,,11.2412,44,Q05086_W768X,W,X,768,WX,W768X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
2768,Q05086,R,X,417,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,34642,4612,ENSG00000114062,ENST00000566215,CCDS32177.1,UBE3A,0.49,,,,,8.81531,41,Q05086_R417X,R,X,417,RX,R417X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2773,Q04671,W,C,679,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,173144,171294,ENSG00000104044,ENST00000354638,CCDS10020.1,OCA2,0.81,probably_damaging,1,deleterious,0,3.93178,20.1,Q04671_W679C,W,C,679,WC,W679C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.198,-4.639,3.441,,,,,,,,,0.000558751,0,0.0190545,0.766181
2795,Q7Z699,Q,X,215,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,97156,7768,ENSG00000166068,ENST00000299084,CCDS32193.1,SPRED1,0.48,,,,,10.853,44,Q7Z699_Q215X,Q,X,215,QX,Q215X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
2819,Q8IWV7,H,R,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,23441,64,ENSG00000159459,ENST00000382177,,UBR1,0.17,benign,0.23,deleterious,0,3.17132,16.61,Q8IWV7_H136R,H,R,136,HR,H136R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.473,-2.139,0.666,,,,,,19.69,19.69,57.23,,,,0.94783
2857,P35555,Y,C,754,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,148412,66534,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.26,probably_damaging,0.97,deleterious,0,3.80656,19.33,P35555_Y754C,Y,C,754,YC,Y754C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.43,-4.673,3.243,,,,,,0.735,,67.82,,,,0.768934
3319,Q68CZ1,R,X,132,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,11630,27,ENSG00000103494,ENST00000562230,,RPGRIP1L,0.37,,,,,2.52806,14.41,Q68CZ1_R132X,R,X,132,RX,R132X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000425622,0,0.0145146,0.977351
3326,Q9BXC9,R,X,216,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,28,213,ENSG00000125124,ENST00000568104,,BBS2,0.32,,,,,7.23854,38,Q9BXC9_R216X,R,X,216,RX,R216X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00117347,0,0.0400179,0.908362
3444,P43034,,,,Transcript,INTRONIC,2,intron,pathogenic,0.38,0,,,,,,,,,2377,9230,ENSG00000007168,ENST00000574468,,PAFAH1B1,,,,,,0.554851,7.001,P43034_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3448,P43034,D,H,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,2888,5322,ENSG00000007168,ENST00000397195,CCDS32528.1,PAFAH1B1,0.77,probably_damaging,1,deleterious,0,4.8701,27.9,P43034_D317H,D,H,317,DH,D317H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.497,-4.058,2.561,0.195,S,a,0.58,1.39,,,,0.00180945,0,0.0617059,0.717675
3449,P43034,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.38,0.01,,,,,,,,,2942,5268,ENSG00000007168,ENST00000397195,CCDS32528.1,PAFAH1B1,,,,,,4.50526,24.2,P43034_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3457,P45381,A,E,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.08,0,0,0,,,,,,14709,29,ENSG00000108381,ENST00000263080,CCDS11028.1,ASPA,0.97,probably_damaging,0.999,deleterious,0.05,4.18486,21.7,P45381_A305E,A,E,305,AE,A305E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.088,-3.217,2.129,0.029,E,B,1.04,-0.12,,,,0.0474821,0.375,1.61924,0.667224
3546,P11055,D,G,462,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,11775,15849,ENSG00000109063,ENST00000583535,CCDS11157.1,MYH3,0.24,probably_damaging,1,deleterious,0,4.41781,23.5,P11055_D462G,D,G,462,DG,D462G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.139,-2.869,1.73,0.006,E,B,0.46,0,,,,3.5e-05,0,0.00119482,0.777669
3592,P21359,R,X,1241,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,2593,18670,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.44,,,,,12.6746,46,P21359_R1241X,R,X,1241,RX,R1241X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3593,P21359,L,P,1243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,2600,18663,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.44,benign,0.01,deleterious,0.03,3.10911,16.39,P21359_L1243P,L,P,1243,LP,L1243P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,,,,,,,,,,,,0.76393
3602,P21359,R,X,1968,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,4598,1710,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.69,,,,,15.1792,49,P21359_R1968X,R,X,1968,RX,R1968X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3874,Q9BX63,P,A,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,0,0,0,,,,,,1678,2634,ENSG00000136492,ENST00000577913,,BRIP1,0.67,,,,,2.46713,14.21,Q9BX63_P47A,P,A,47,PA,P47A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-0.966,-2.895,1.929,,,,,,,,,0.000108152,0,0.00368822,0.91862
4009,Q9Y4W6,M,R,666,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,39734,8575,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.84,probably_damaging,0.999,deleterious,0,4.19904,21.8,Q9Y4W6_M666R,M,R,666,MR,M666R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.71,-3.443,1.733,0.019,.,B,1.75,-0.66,,,,0.00183335,0,0.0625209,0.680466
4010,Q9Y4W6,M,T,666,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,39734,8575,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.84,probably_damaging,0.999,deleterious,0,3.97253,20.3,Q9Y4W6_M666T,M,T,666,MT,M666T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.71,-3.157,1.447,0.019,.,B,0.77,-0.66,,,,0.00183335,0,0.0625209,0.733289
4011,Q9Y4W6,M,V,666,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,39733,8576,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.84,probably_damaging,0.957,deleterious,0,4.09265,21.1,Q9Y4W6_M666V,M,V,666,MV,M666V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.71,-2.589,0.879,0.019,.,B,0.11,-0.66,,,,0.00183335,0,0.0625209,0.83457
4111,P15884,R,X,255,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.04,,,,,,,,,47928,190,ENSG00000196628,ENST00000570177,,TCF4,0.47,,,,,6.33161,37,P15884_R255X,R,X,255,RX,R255X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00130916,0,0.0446449,0.900587
4626,Q9UBP0,R,G,562,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,81297,12633,ENSG00000021574,ENST00000315285,CCDS1778.1,SPAST,0.91,possibly_damaging,0.853,deleterious,0,3.6781,18.69,Q9UBP0_R562G,R,G,562,RG,R562G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.565,-1.741,0.176,0.521,H,A,0.91,0.74,38.736,38.736,75.97,0.000291444,0,0.00993885,0.972003
4636,Q07889,T,K,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,147,27090,ENSG00000115904,ENST00000395038,,SOS1,0.2,benign,0.064,deleterious,0.01,4.0372,20.7,Q07889_T266K,T,K,266,TK,T266K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.689,-3.227,1.538,0.266,H,A,2.12,0.32,3.997,,73.74,0.000370632,0,0.0126393,0.901003
4651,P42704,A,V,354,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,21733,94,ENSG00000138095,ENST00000260665,CCDS33189.1,LRPPRC,0.25,probably_damaging,0.997,deleterious,0,3.77691,19.18,P42704_A354V,A,V,354,AV,A354V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.382,-3.217,1.835,,,,,,2.943,,57.17,0.000354474,0,0.0120883,0.936594
4667,Q8NI22,D,E,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,3556,51,ENSG00000180398,ENST00000409800,CCDS54354.1,MCFD2,0.82,probably_damaging,0.999,deleterious,0,4.00828,20.5,Q8NI22_D77E,D,E,77,DE,D77E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,,,,,,,,,,,,,,,0.957436
4670,P43246,R,X,406,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.05,,,,,,,,,26751,53341,ENSG00000095002,ENST00000406134,,MSH2,0.44,,,,,6.98871,38,P43246_R406X,R,X,406,RX,R406X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00139039,0,0.0474152,0.900587
4683,P22888,A,V,545,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,18285,413,ENSG00000138039,ENST00000405626,,LHCGR,0.81,probably_damaging,0.998,deleterious,0,4.63495,25.4,P22888_A545V,A,V,545,AV,A545V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.000754197,0,0.0257197,0.99313
4685,P22888,A,V,541,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,18297,425,ENSG00000138039,ENST00000405626,,LHCGR,0.81,probably_damaging,0.998,deleterious,0,4.61291,25.2,P22888_A541V,A,V,541,AV,A541V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00198584,0,0.0677211,0.973623
4706,P23945,A,V,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,14189,9,ENSG00000170820,ENST00000346173,,FSHR,0.3,probably_damaging,0.995,tolerated,0.27,4.13147,21.3,P23945_A189V,A,V,189,AV,A189V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.088,-2.856,1.768,,T,A,0.44,-0.19,,,,0.000596866,0,0.0203544,0.796755
4843,Q9H3L0,R,X,284,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.05,,,,,,,,,17486,252,ENSG00000168288,ENST00000422782,,MMADHC,0.86,,,,,6.26354,37,Q9H3L0_R284X,R,X,284,RX,R284X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0487511,0.166667,1.66251,0.933515
4844,Q9H3L0,Y,C,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.05,,,,,,,,,17484,254,ENSG00000168288,ENST00000422782,,MMADHC,0.86,probably_damaging,0.992,deleterious,0,3.56267,18.16,Q9H3L0_Y283C,Y,C,283,YC,Y283C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00529652,0,0.180622,0.910336
4873,P35498,K,T,1270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,61443,20934,ENSG00000144285,ENST00000423058,,SCN1A,0.63,probably_damaging,1,deleterious,0,4.83648,27.5,P35498_K1270T,K,T,1270,KT,K1270T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.166,-3.198,2.032,,,,,,,,,2.36e-05,0,0.000804974,0.855799
4875,P35498,T,M,875,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.07,,,,,,,,,35524,46853,ENSG00000144285,ENST00000423058,,SCN1A,0.44,probably_damaging,0.986,deleterious,0.04,4.3755,23.1,P35498_T875M,T,M,875,TM,T875M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.149,-4.257,3.108,,,,,,,,,4.87e-05,0,0.00166216,0.820812
4929,O75569,P,L,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,0,0,0,,,,,,7744,11,ENSG00000180228,ENST00000438687,,PRKRA,0.55,benign,0,tolerated,0.08,2.88621,15.62,O75569_P109L,P,L,109,PL,P109L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
4957,Q9NP59,D,G,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,8983,763,ENSG00000138449,ENST00000261024,CCDS2299.1,SLC40A1,0.27,possibly_damaging,0.722,tolerated,0.16,4.45814,23.8,Q9NP59_D157G,D,G,157,DG,D157G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.985,-2.95,1.965,,,,,,,,,0.00156685,0,0.0534329,0.757691
4991,P28331,D,G,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,14186,20908,ENSG00000023228,ENST00000455934,CCDS56165.1,NDUFS1,0.36,probably_damaging,0.999,deleterious,0.03,4.49281,24.1,P28331_D266G,D,G,266,DG,D266G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,,,,0.942556
4992,P28331,R,W,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,12276,728,ENSG00000023228,ENST00000455934,CCDS56165.1,NDUFS1,0.34,probably_damaging,0.996,deleterious,0,4.16966,21.6,P28331_R255W,R,W,255,RW,R255W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
5013,Q86UK0,G,E,1063,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,45524,53941,ENSG00000144452,ENST00000389661,CCDS33373.1,ABCA12,0.47,probably_damaging,1,deleterious,0,4.96883,29,Q86UK0_G1063E,G,E,1063,GE,G1063E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,,,,0.947149
5270,Q9BZ23,S,P,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,1956,171,ENSG00000125779,ENST00000497424,CCDS13072.1,PANK2,0.22,probably_damaging,0.971,deleterious,0.02,4.06464,20.9,Q9BZ23_S60P,S,P,60,SP,S60P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.000230697,0,0.00786725,0.992219
5284,Q9BQL6,R,X,31,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,18424,21343,ENSG00000101311,ENST00000536936,,FERMT1,0.07,,,,,10.5723,44,Q9BQL6_R31X,R,X,31,RX,R31X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5342,Q9Y3Z3,Q,X,548,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,7469,358,ENSG00000101347,ENST00000262878,CCDS13288.1,SAMHD1,0.88,,,,,7.16029,38,Q9Y3Z3_Q548X,Q,X,548,QX,Q548X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00366862,0,0.125107,0.955443
5465,P05067,E,D,641,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,342,16129,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.86,benign,0.043,tolerated,0.4,1.87549,12.23,P05067_E641D,E,D,641,ED,E641D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,,,,,,,,,,,,0.00736311,0.00775194,0.251097,0.936665
5509,P50747,G,S,581,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.05,,,,,,,,,15009,267,ENSG00000159267,ENST00000399120,CCDS13647.1,HLCS,0.8,probably_damaging,0.999,deleterious,0,5.57219,35,P50747_G581S,G,S,581,GS,G581S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.741,-3.036,2.295,,,,,,,,,0.00189153,0,0.064505,0.803884
5880,P16278,Y,C,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,20950,116,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.44,probably_damaging,0.917,deleterious,0,3.76386,19.11,P16278_Y286C,Y,C,286,YC,Y286C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00265298,0,0.0904722,0.932741
5891,O75718,Q,X,276,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,0,0,0,0.001,,,0.002,,14696,2630,ENSG00000170275,ENST00000320954,CCDS2657.1,CRTAP,0.69,,,,,5.43473,35,O75718_Q276X,Q,X,276,QX,Q276X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
5897,P40692,S,X,11,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,77,15,ENSG00000076242,ENST00000455445,CCDS54563.1,MLH1,0.02,,,,,9.21675,42,P40692_S11X,S,X,11,SX,S11X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000549379,0,0.0187349,0.980409
6042,P11177,P,S,344,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,5731,392,ENSG00000168291,ENST00000302746,CCDS2890.1,PDHB,0.96,probably_damaging,0.946,deleterious,0,4.71197,26.2,P11177_P344S,P,S,344,PS,P344S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.535,-3.357,1.822,0.008,.,B,0.25,0.5,1.901,,77.44,0.00247347,0,0.0843504,0.86086
6044,O75030,N,K,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,15159,7492,ENSG00000187098,ENST00000314589,CCDS46865.1,MITF,0.59,probably_damaging,0.988,deleterious,0,4.09591,21.1,O75030_N295K,N,K,295,NK,N295K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.00492012,0.017316,0.167786,0.946733
6056,Q04446,Q,H,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,3413,3895,ENSG00000114480,ENST00000489715,,GBE1,0.3,probably_damaging,0.999,deleterious,0,3.06233,16.22,Q04446_Q195H,Q,H,195,QH,Q195H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,,,,,,,,,,,,0.00228108,0,0.0777895,0.985788
6062,Q9UQN3,Q,H,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,749,116,ENSG00000083937,ENST00000471660,,CHMP2B,0.96,probably_damaging,0.942,deleterious,0.01,3.36543,17.34,Q9UQN3_Q165H,Q,H,165,QH,Q165H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-1.699,-3.912,2.213,,,,,,,,,0.00501434,0,0.170999,0.798932
6063,P28069,R,W,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,16504,62,ENSG00000064835,ENST00000561167,,POU1F1,0.9,probably_damaging,0.916,deleterious,0,3.83572,19.48,P28069_R196W,R,W,196,RW,R196W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00201364,0,0.0686693,0.969087
6077,P07225,Q,X,279,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0,,,,,,,,,60293,25353,ENSG00000184500,ENST00000394236,CCDS2923.1,PROS1,0.41,,,,,5.98966,37,P07225_Q279X,Q,X,279,QX,Q279X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000934583,0,0.0318712,0.947638
6097,P40200,T,M,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,43169,21717,ENSG00000153283,ENST00000283285,CCDS2959.1,CD96,0.48,benign,0.016,tolerated,0.73,-2.37704,0.004,P40200_T280M,T,M,280,TM,T280M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.07,-2.155,0.085,,,,,,11.823,11.823,74.02,,,,0.998617
6195,P98194,A,T,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,31,3218,ENSG00000017260,ENST00000328560,CCDS46913.1,ATP2C1,0.34,probably_damaging,0.992,deleterious,0,5.46855,35,P98194_A304T,A,T,304,AT,A304T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.175,-2.932,1.757,,,,,,,,,,,,0.860622
6231,P00450,W,X,877,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,35,1802,ENSG00000047457,ENST00000264613,CCDS3141.1,CP,0.82,,,,,10.2719,43,P00450_W877X,W,X,877,WX,W877X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000948706,0,0.0323528,0.889966
6251,P14410,L,P,620,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,31627,67971,ENSG00000090402,ENST00000264382,CCDS3196.1,SI,0.34,probably_damaging,0.999,deleterious,0,4.13519,21.3,P14410_L620P,L,P,620,LP,L620P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.178,-4.025,2.847,,H,A,1.07,-1.02,0.154,,13.9,0.000207877,0,0.00708903,0.593553
6371,Q9H3D4,N,H,6,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,15,74453,ENSG00000073282,ENST00000392461,,TP63,0.01,benign,0.255,tolerated,0.14,2.24702,13.47,Q9H3D4_N6H,N,H,6,NH,N6H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,,,,,,,,,,,,0.000548747,0,0.0187134,0.990629
6496,Q16585,Y,X,184,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,4842,28,ENSG00000163069,ENST00000381431,CCDS3488.1,SGCB,0.58,,,,,4.1025,21.1,Q16585_Y184X,Y,X,184,YX,Y184X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00420908,0,0.143538,0.945391
6539,P02771,W,X,181,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,6109,13388,ENSG00000081051,ENST00000226359,,AFP,0.29,,,,,1.45726,10.82,P02771_W181X,W,X,181,WX,W181X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
6561,Q13563,W,X,380,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0,,,,,,,,,16,108,ENSG00000118762,ENST00000237596,CCDS3627.1,PKD2,0.39,,,,,6.66732,38,Q13563_W380X,W,X,380,WX,W380X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000997573,0,0.0340193,0.889194
6587,P05156,G,D,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,2025,19843,ENSG00000205403,ENST00000394634,CCDS34049.1,CFI,0.42,probably_damaging,1,deleterious,0,4.43627,23.6,P05156_G243D,G,D,243,GD,G243D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.915,-3.318,2.403,,,,,,0.916,,18.7,,,,0.78473
6614,P08235,S,L,818,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,2319,109,ENSG00000151623,ENST00000358102,CCDS3772.1,NR3C2,0.83,probably_damaging,0.993,deleterious,0,5.17021,32,P08235_S818L,S,L,818,SL,S818L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.239,-3.135,1.896,,H,A,0.82,-1.15,,,,0.00150123,0,0.051195,0.639683
6623,P02675,L,Q,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,1926,92,ENSG00000171564,ENST00000302068,CCDS3786.1,FGB,0.41,probably_damaging,0.939,deleterious,0,4.75623,26.6,P02675_L202Q,L,Q,202,LQ,L202Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.716,-3.104,1.388,0.036,H,A,1.19,0.38,5.882,5.882,55.6,0.00188461,0,0.064269,0.761488
6632,Q16134,R,L,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,3195,362,ENSG00000171503,ENST00000307738,,ETFDH,0.22,probably_damaging,1,deleterious,0,5.54787,35,Q16134_R128L,R,L,128,RL,R128L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.0036,0,0.122767,0.954803
6661,Q6ZWL3,H,R,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,2955,11759,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.48,probably_damaging,0.986,deleterious,0.01,4.18431,21.7,Q6ZWL3_H254R,H,R,254,HR,H254R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.124,-3.339,2.215,,,,,,,,,0.00423709,0,0.144493,0.814383
6678,P03952,G,R,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,9260,69,ENSG00000164344,ENST00000511608,,KLKB1,0.25,probably_damaging,1,deleterious,0,4.10692,21.2,P03952_G171R,G,R,171,GR,G171R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00139766,0,0.0476629,0.897226
6751,Q6KC79,R,Q,1789,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,145298,42103,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.66,probably_damaging,1,deleterious,0,5.44046,35,Q6KC79_R1789Q,R,Q,1789,RQ,R1789Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.863,-3.449,2.586,,,,,,,,,,,,0.778495
6753,Q6KC79,R,Q,1819,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.08,,,,,,,,,145482,41919,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.67,probably_damaging,0.99,deleterious,0.01,5.49376,35,Q6KC79_R1819Q,R,Q,1819,RQ,R1819Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.428,-3.698,2.27,,,,,,1.162,,2.85,,,,0.783874
6759,Q6KC79,Q,X,2443,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,6306,6942,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.91,,,,,18.0081,51,Q6KC79_Q2443X,Q,X,2443,QX,Q2443X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6771,P55809,G,E,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,0,0,0,,,,,,39610,53547,ENSG00000083720,ENST00000509987,,OXCT1,0.41,probably_damaging,0.959,deleterious,0,4.86184,27.8,P55809_G138E,G,E,138,GE,G138E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,,,,0.947149
6772,P55809,S,X,97,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.07,,,,,,,,,37084,56073,ENSG00000083720,ENST00000509987,,OXCT1,0.29,,,,,5.66363,36,P55809_S97X,S,X,97,SX,S97X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
6791,P10912,E,D,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,145458,8478,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.38,benign,0.024,deleterious,0,2.11549,13.03,P10912_E242D,E,D,242,ED,E242D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.433,-2.159,0.726,0.749,.,B,0.29,0.74,32.335,32.335,81.5,0.000886051,0,0.0302162,1.00347
6794,O15520,G,E,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,78355,6899,ENSG00000070193,ENST00000264664,CCDS3950.1,FGF10,0.66,probably_damaging,1,deleterious,0,4.97489,29.1,O15520_G138E,G,E,138,GE,G138E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,0.057,S,g,0.75,0.87,,,,0.00158952,0,0.0542059,0.662198
6795,O15520,K,X,137,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,78351,6903,ENSG00000070193,ENST00000264664,CCDS3950.1,FGF10,0.66,,,,,5.99799,37,O15520_K137X,K,X,137,KX,K137X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00807794,0,0.275474,0.917574
6805,Q13216,Y,X,264,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0,,,,,,,,,2614,972,ENSG00000049167,ENST00000426742,,ERCC8,0.78,,,,,7.90522,39,Q13216_Y264X,Y,X,264,YX,Y264X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0040431,0,0.137878,0.945391
6821,O00203,L,R,580,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.05,,,,,,,,,11952,7497,ENSG00000132842,ENST00000255194,CCDS4041.1,AP3B1,0.53,probably_damaging,0.989,deleterious,0,3.3801,17.4,O00203_L580R,L,R,580,LR,L580R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.432,-4.24,2.808,,,,,,1.685,,48.17,0.000348153,0,0.0118727,0.839353
6822,O00203,R,X,509,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,98,19546,ENSG00000132842,ENST00000255194,CCDS4041.1,AP3B1,0.47,,,,,9.43932,42,O00203_R509X,R,X,509,RX,R509X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000380558,0,0.0129778,0.977351
6835,P13611,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.38,0.03,,,,,,,,,321,792,ENSG00000038427,ENST00000265077,CCDS4060.1,VCAN,,,,,,3.26271,16.95,P13611_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6839,Q8WXG9,S,X,2832,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0,,,,,,,,,11448,54475,ENSG00000164199,ENST00000405460,CCDS47246.1,GPR98,0.45,,,,,17.8418,51,Q8WXG9_S2832X,S,X,2832,SX,S2832X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
6850,P25054,S,X,280,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,77167,23556,ENSG00000134982,ENST00000457016,CCDS4107.1,APC,0.1,,,,,7.92942,40,P25054_S280X,S,X,280,SX,S280X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
6964,P50443,A,V,715,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,0,0,0,,,,,,3757,5669,ENSG00000155850,ENST00000286298,CCDS4300.1,SLC26A2,0.97,probably_damaging,1,deleterious,0,4.22914,22,P50443_A715V,A,V,715,AV,A715V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-0.949,-2.934,1.985,,,,,,,,,0.00434366,0,0.148128,0.814197
7062,P00488,R,Q,327,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,2644,15754,ENSG00000124491,ENST00000264870,CCDS4496.1,F13A1,0.45,probably_damaging,1,deleterious,0,5.485,35,P00488_R327Q,R,Q,327,RQ,R327Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,0.026,H,A,0.56,-1.05,,,,0.000357363,0,0.0121868,0.705659
7170,Q13950,T,A,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,15479,109246,ENSG00000124813,ENST00000359524,CCDS4913.1,RUNX2,0.37,possibly_damaging,0.649,deleterious,0,3.60826,18.37,Q13950_T186A,T,A,186,TA,T186A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,0.000539292,0,0.018391,0.991149
7176,P22033,G,V,717,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,0,0.001,0,,,,,,31361,1471,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.96,probably_damaging,0.991,deleterious,0,4.54722,24.6,P22033_G717V,G,V,717,GV,G717V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.711,-3.751,3.04,0.552,T,g,0.73,-0.23,1.975,,59.2,0.00164186,0,0.0559907,0.670516
7182,P22033,E,X,117,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,4074,28758,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.16,,,,,4.56677,24.8,P22033_E117X,E,X,117,EX,E117X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00118245,0,0.0403241,0.910457
7282,O00628,Y,X,115,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0,,,,,,,,,23035,68280,ENSG00000112357,ENST00000318471,CCDS5180.1,PEX7,0.36,,,,,5.41441,35,O00628_Y115X,Y,X,115,YX,Y115X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00599712,0,0.204514,0.918595
7289,P15260,V,E,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,11534,339,ENSG00000027697,ENST00000543628,,IFNGR1,0.07,probably_damaging,0.973,deleterious,0,2.73478,15.11,P15260_V33E,V,E,33,VE,V33E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,,,,,,,,,,,,0.00264414,0,0.0901707,0.963902
7294,O95278,R,C,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,21,14971,ENSG00000112425,ENST00000367519,CCDS5206.1,EPM2A,0.33,probably_damaging,1,deleterious,0,4.59331,25,O95278_R108C,R,C,108,RC,R108C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.00271254,0,0.0925032,0.74397
7309,#N/A,R,X,56,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,23755,1882,ENSG00000185068,ENST00000438073,CCDS5256.1,GTF2H5,0.79,,,,,4.15084,21.4,#N/A_R56X,R,X,56,RX,R56X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7329,O00584,C,R,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,1989,1428,ENSG00000026297,ENST00000478180,,RNASET2,0.73,probably_damaging,1,deleterious,0,1.78527,11.93,O00584_C184R,C,R,184,CR,C184R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-0.775,-4.426,3.651,,,,,,1.679,,41.02,0.00137786,0,0.046988,0.789521
7333,P54278,R,X,628,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,17124,4008,ENSG00000122512,ENST00000265849,CCDS5343.1,PMS2,0.73,,,,,7.3019,39,P54278_R628X,R,X,628,RX,R628X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000920057,0,0.0313759,0.977351
7362,P41250,G,R,580,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.05,,,,,,,,,108,10,ENSG00000106105,ENST00000389266,CCDS43564.1,GARS,0.78,probably_damaging,1,deleterious,0,5.16864,32,P41250_G580R,G,R,580,GR,G580R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.115,.,b,0.91,-1.61,,,,0.00080846,0,0.0275702,0.507623
7371,Q9H0P0,Y,X,181,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.08,,,,,,,,,1428,283,ENSG00000122643,ENST00000405342,CCDS34617.1,NT5C3,0.61,,,,,4.66309,25.7,Q9H0P0_Y181X,Y,X,181,YX,Y181X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00485119,0,0.165436,0.93026
7379,Q9UMR3,Q,X,195,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,8611,13520,ENSG00000164532,ENST00000408931,CCDS43568.1,TBX20,0.44,,,,,7.50236,39,Q9UMR3_Q195X,Q,X,195,QX,Q195X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00151228,0,0.0515718,0.904853
7461,Q9Y3A5,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.38,0.03,,,,,,,,,156,3074,ENSG00000126524,ENST00000246868,CCDS5537.1,SBDS,,,,,,3.81312,19.36,Q9Y3A5_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7490,P21439,Y,H,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,31780,41590,ENSG00000005471,ENST00000453593,CCDS5607.1,ABCB4,0.33,possibly_damaging,0.585,deleterious,0,4.49338,24.1,P21439_Y403H,Y,H,403,YH,Y403H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.096,-3.597,2.501,,,,,,,,,0.00013409,0,0.00457275,0.823756
7496,Q5K651,K,E,1495,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,16348,635,ENSG00000205413,ENST00000379958,CCDS34680.1,SAMD9,0.94,benign,0.199,deleterious,0.03,2.50531,14.34,Q5K651_K1495E,K,E,1495,KE,K1495E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.478,-3.057,1.579,,,,,,3.374,,52.49,,,,0.853244
7504,P08123,G,D,580,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,1025,1566,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.42,,,deleterious,0,3.41797,17.55,P08123_G580D,G,D,580,GD,G580D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,0,,,,2.12e-05,0,0.000721387,0.660197
7506,P08123,G,S,661,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,736,2539,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.48,,,deleterious,0,4.89471,28.1,P08123_G661S,G,S,661,GS,G661S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.063,-2.931,1.868,,,,,0,7.234,,85.87,1.79e-05,0,0.000611906,0.86149
7524,Q9UJS0,R,X,360,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.05,,,,,,,,,199,14332,ENSG00000004864,ENST00000265631,CCDS5645.1,SLC25A13,0.53,,,,,7.36967,39,Q9UJS0_R360X,R,X,360,RX,R360X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00105264,0,0.0358972,0.908362
7558,O43511,Y,H,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,4753,2091,ENSG00000091137,ENST00000544569,,SLC26A4,0.32,probably_damaging,0.999,deleterious,0,4.7194,26.2,O43511_Y117H,Y,H,117,YH,Y117H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.000358067,0,0.0122108,0.991285
7563,P40879,W,X,462,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,23519,14217,ENSG00000091138,ENST00000340010,CCDS5748.1,SLC26A3,0.6,,,,,7.69553,39,P40879_W462X,W,X,462,WX,W462X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
7577,P08581,V,L,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,4852,14316,ENSG00000105976,ENST00000539704,,MET,0.22,possibly_damaging,0.818,tolerated,0.05,4.99223,29.3,P08581_V58L,V,L,58,VL,V58L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,0.000319833,0,0.010907,0.996059
7599,P13569,S,X,436,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,171,28282,ENSG00000001626,ENST00000426809,,CFTR,0.3,,,,,7.81353,39,P13569_S436X,S,X,436,SX,S436X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000581364,0.000957854,0.0198257,0.980409
7600,P13569,G,C,450,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,130,28241,ENSG00000001626,ENST00000426809,,CFTR,0.31,probably_damaging,1,deleterious,0,4.75694,26.6,P13569_G450C,G,C,450,GC,G450C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,,,,,,,,,,,,0.000516681,0,0.0176199,0.971531
7607,P13569,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.38,0.01,0.001,0,0.001,0.001,,,,0.001,28100,12,ENSG00000001626,ENST00000426809,,CFTR,,,,,,3.99251,20.4,P13569_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7610,P13569,G,S,521,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,28167,56,ENSG00000001626,ENST00000426809,,CFTR,0.36,probably_damaging,1,deleterious,0,5.66369,36,P13569_G521S,G,S,521,GS,G521S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.000387436,0,0.0132124,0.992782
7611,P13569,G,D,521,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,0.001,0,0.002,,,,,,28168,57,ENSG00000001626,ENST00000426809,,CFTR,0.36,probably_damaging,1,deleterious,0,5.2281,33,P13569_G521D,G,D,521,GD,G521D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.000387436,0,0.0132124,0.97884
7612,P13569,Q,X,522,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,28170,59,ENSG00000001626,ENST00000426809,,CFTR,0.36,,,,,5.73641,36,P13569_Q522X,Q,X,522,QX,Q522X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000519511,0,0.0177164,0.98231
7613,P13569,R,X,523,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,0,0,0.001,0.001,,,,0.001,28173,62,ENSG00000001626,ENST00000426809,,CFTR,0.36,,,,,5.34218,34,P13569_R523X,R,X,523,RX,R523X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00035719,0,0.0121809,0.977351
7614,P13569,R,Q,523,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,28174,63,ENSG00000001626,ENST00000426809,,CFTR,0.36,probably_damaging,0.995,deleterious,0.01,4.92248,28.5,P13569_R523Q,R,Q,523,RQ,R523Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00035719,0,0.0121809,0.995428
7627,P13569,D,V,618,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,112015,74962,ENSG00000001626,ENST00000426809,,CFTR,0.43,benign,0.02,deleterious,0.04,3.20824,16.75,P13569_D618V,D,V,618,DV,D618V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.0002937,0,0.0100158,0.979956
7682,P24557,L,P,83,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,0,0,0,,,,,,81922,2797,ENSG00000059377,ENST00000414508,CCDS5856.1,TBXAS1,0.18,probably_damaging,0.979,deleterious,0.03,3.62203,18.43,P24557_L83P,L,P,83,LP,L83P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
7689,P15056,K,E,499,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,5145,43416,ENSG00000157764,ENST00000288602,CCDS5863.1,BRAF,0.65,benign,0.303,deleterious,0,3.91468,19.91,P15056_K499E,K,E,499,KE,K499E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.416,-2.672,1.256,0.401,H,A,1.3,0.89,,,,0.00113702,0,0.0387748,0.899845
7690,P15056,L,F,485,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,5105,43456,ENSG00000157764,ENST00000288602,CCDS5863.1,BRAF,0.63,possibly_damaging,0.898,deleterious,0,4.10192,21.1,P15056_L485F,L,F,485,LF,L485F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.347,-3.299,1.952,0.029,.,b,0.03,0.72,,,,0.000922983,0,0.0314756,0.858946
7692,P15056,Q,R,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.07,,,,,,,,,123157,66905,ENSG00000157764,ENST00000288602,CCDS5863.1,BRAF,0.34,possibly_damaging,0.456,deleterious,0.03,4.48776,24,P15056_Q257R,Q,R,257,QR,Q257R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.699,-2.94,1.241,,,,,,,,,0.00111629,0,0.0380677,0.858119
7739,Q9UGJ0,N,I,488,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,115,4,ENSG00000106617,ENST00000287878,CCDS5928.1,PRKAG2,0.86,benign,0.088,deleterious,0.04,3.42424,17.58,Q9UGJ0_N488I,N,I,488,NI,N488I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.461,-3.821,2.36,0.675,.,A,1.09,3.48,2.002,,76.63,0.00320533,0,0.109309,0.77169
7774,Q13510,Y,C,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,710,4250,ENSG00000104763,ENST00000520781,,ASAH1,0.1,probably_damaging,0.999,deleterious,0,3.55821,18.14,Q13510_Y36C,Y,C,36,YC,Y36C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.282,-4.598,3.316,,,,,,,,,0.00187082,0.00557103,0.0637988,0.754894
7875,Q9P2D1,H,R,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,163,66,ENSG00000171316,ENST00000307121,,CHD7,0.02,benign,0.254,deleterious,0.03,1.91918,12.38,Q9P2D1_H55R,H,R,55,HR,H55R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.778,-3.164,1.386,,,,,,3.021,,41.64,,,,0.848932
7883,P49638,R,X,134,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.05,,,,,,,,,19994,6273,ENSG00000137561,ENST00000260116,CCDS6178.1,TTPA,0.48,,,,,5.52138,35,P49638_R134X,R,X,134,RX,R134X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00696382,0,0.23748,0.924423
7887,O75881,Y,X,275,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,0,0,0,,,,,,99,19581,ENSG00000172817,ENST00000310193,CCDS6180.1,CYP7B1,0.54,,,,,3.16077,16.57,O75881_Y275X,Y,X,275,YX,Y275X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
7899,Q8TB36,T,P,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,9851,47,ENSG00000104381,ENST00000434412,CCDS47877.1,GDAP1,0.31,probably_damaging,0.914,tolerated,0.34,2.47629,14.24,Q8TB36_T89P,T,P,89,TP,T89P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.00253722,0,0.0865242,0.977428
7907,P28328,R,X,119,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,0,0,0,,,,,,2704,184,ENSG00000164751,ENST00000419564,CCDS6221.1,PEX2,0.39,,,,,6.21135,37,P28328_R119X,R,X,119,RX,R119X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00458229,0,0.156266,0.934774
7913,P00918,H,Y,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,9765,198,ENSG00000104267,ENST00000285379,CCDS6239.1,CA2,0.41,probably_damaging,0.999,deleterious,0,3.35499,17.3,P00918_H107Y,H,Y,107,HY,H107Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.251,-2.169,0.918,,S,B,0.38,-0.88,24.537,24.537,77.31,0.000621478,0,0.0211937,0.811488
7932,Q7Z7G8,R,X,692,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,21,53179,ENSG00000132549,ENST00000355155,CCDS6283.1,VPS13B,0.8,,,,,8.93929,41,Q7Z7G8_R692X,R,X,692,RX,R692X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7939,Q7Z7G8,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.38,0.01,0,0,0,,,,,,704108,160206,ENSG00000132549,ENST00000395996,,VPS13B,,,,,,4.20969,21.9,Q7Z7G8_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8133,Q9BX84,R,X,51,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,45018,15573,ENSG00000119121,ENST00000449912,CCDS55319.1,TRPM6,0.03,,,,,3.34316,17.25,Q9BX84_R51X,R,X,51,RX,R51X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8140,Q13825,R,X,197,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,63895,2,ENSG00000148090,ENST00000422391,,AUH,0.77,,,,,1.99525,12.63,Q13825_R197X,R,X,197,RX,R197X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8185,P36897,M,R,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,14767,6659,ENSG00000106799,ENST00000550253,,TGFBR1,0.57,probably_damaging,0.956,deleterious,0.01,4.41483,23.4,P36897_M249R,M,R,249,MR,M249R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,0.000334277,0,0.0113995,0.992159
8220,O75072,Q,P,358,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,2003,15339,ENSG00000106692,ENST00000357998,CCDS56580.1,FKTN,0.83,benign,0.09,tolerated,0.19,2.05823,12.84,O75072_Q358P,Q,P,358,QP,Q358P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-2.332,-4.231,1.899,,,,,,1.692,,92.84,0.00489129,0,0.166803,0.943344
8237,Q96SN8,Y,X,82,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,29154,22946,ENSG00000136861,ENST00000349780,CCDS6823.1,CDK5RAP2,0.04,,,,,6.1694,37,Q96SN8_Y82X,Y,X,82,YX,Y82X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
8238,P01031,R,X,1476,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.04,0,0,0,,,,,,42,5788,ENSG00000106804,ENST00000223642,CCDS6826.1,C5,0.88,,,,,10.5485,44,P01031_R1476X,R,X,1476,RX,R1476X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000844156,0,0.0287875,0.977351
8306,Q7Z333,P,L,2213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,30374,20043,ENSG00000107290,ENST00000372169,,SETX,0.82,probably_damaging,0.996,deleterious,0,4.25703,22.2,Q7Z333_P2213L,P,L,2213,PL,P2213L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.906,-3.439,2.533,,,,,,,,,,,,0.769387
8314,Q7Z333,R,W,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,23693,69853,ENSG00000107290,ENST00000372169,,SETX,0.12,probably_damaging,1,deleterious,0,3.38956,17.44,Q7Z333_R332W,R,W,332,RW,R332W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.219,-5.172,3.953,,,,,,0.103,,15.5,,,,0.763376
8437,O43462,M,I,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,5553,12387,ENSG00000012174,ENST00000365779,,MBTPS2,0.26,probably_damaging,0.991,deleterious,0,4.97235,29,O43462_M87I,M,I,87,MI,M87I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.71,-2.846,1.136,,,,,,,,,0.00156727,0,0.0534472,0.860571
8499,P11532,Q,X,1472,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,738756,24924,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.4,,,,,11.2147,44,P11532_Q1472X,Q,X,1472,QX,Q1472X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8504,P11532,Q,X,1041,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.04,,,,,,,,,659822,103858,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.28,,,,,8.44387,40,P11532_Q1041X,Q,X,1041,QX,Q1041X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8505,P11532,E,X,931,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0,,,,,,,,,643430,120250,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.25,,,,,9.03074,41,P11532_E931X,E,X,931,EX,E931X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8541,Q92834,G,V,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0,,,,,,,,,4502,38512,ENSG00000156313,ENST00000318842,CCDS14246.1,RPGR,0.07,probably_damaging,1,deleterious,0,4.46006,23.8,Q92834_G60V,G,V,60,GV,G60V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.741,-3.629,2.888,,,,,,,,,0.000290135,0,0.00989421,0.794761
8549,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.38,0.03,,,,,,,,,169,50894,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,2.28068,13.58,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8550,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.38,0.03,,,,,,,,,169,50894,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,2.22036,13.38,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8564,P00480,N,T,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,0,0,0,,,,,,14748,36315,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.13,benign,0.035,deleterious,0,2.4257,14.07,P00480_N47T,N,T,47,NT,N47T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,-2.242,-3.751,1.509,0.481,G,A,0.39,0.26,6.682,,93.5,0.00394731,0,0.134611,0.894772
8565,P00480,N,I,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,14748,36315,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.13,benign,0.258,deleterious,0,2.78778,15.28,P00480_N47I,N,I,47,NI,N47I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-2.242,-4.273,2.031,0.481,G,A,1.09,0.26,7.096,,93.5,0.00394731,0,0.134611,0.790656
8566,P00480,F,S,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,14751,36312,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.14,probably_damaging,0.994,deleterious,0,3.17952,16.64,P00480_F48S,F,S,48,FS,F48S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.808,-3.987,2.179,0.024,S,B,0.85,-0.19,2.827,,76.55,0.00573123,0,0.195447,0.633965
8567,P00480,T,P,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,14753,36310,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.14,possibly_damaging,0.775,deleterious,0,3.79591,19.27,P00480_T49P,T,P,49,TP,T49P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.654,-4.125,2.471,0.54,.,B,0.3,-0.3,2.262,,77.68,0.00441149,0,0.150441,0.772698
8568,P00480,G,R,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,14756,36307,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.14,benign,0.343,tolerated,0.24,2.64217,14.8,P00480_G50R,G,R,50,GR,G50R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-2.712,-2.888,0.176,0.138,H,A,0.91,-0.33,18.66,18.66,87.01,0.0058613,0,0.199882,0.879494
8569,P00480,G,X,50,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,14756,36307,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.14,,,,,6.11624,37,P00480_G50X,G,X,50,GX,G50X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.0058613,0,0.199882,0.913875
8598,P00480,S,G,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,17242,33821,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.25,probably_damaging,0.999,deleterious,0,4.47503,23.9,P00480_S90G,S,G,90,SG,S90G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-0.777,-3.109,2.332,0.256,.,b,0.02,-0.62,1.86,,37.29,0.000902161,0,0.0307656,0.679085
8599,P00480,S,N,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,17243,33820,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.25,probably_damaging,0.999,deleterious,0,4.41905,23.5,P00480_S90N,S,N,90,SN,S90N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-0.777,-3.401,2.624,0.256,.,b,0.34,-0.62,2.744,,37.29,0.000902161,0,0.0307656,0.653971
8603,P00480,R,Q,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,17249,33814,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.26,probably_damaging,0.997,deleterious,0,5.23255,33,P00480_R92Q,R,Q,92,RQ,R92Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.821,-3.687,2.866,0.256,H,A,0.56,-0.72,2.102,,81.07,0.000804572,0,0.0274375,0.733791
8604,P00480,R,P,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,17249,33814,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.26,probably_damaging,0.999,deleterious,0,4.54405,24.6,P00480_R92P,R,P,92,RP,R92P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-0.821,-4.031,3.21,0.256,H,A,0.68,-0.72,2.356,,81.07,0.000804572,0,0.0274375,0.711259
8605,P00480,R,L,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,17249,33814,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.26,probably_damaging,0.998,deleterious,0,4.89175,28.1,P00480_R92L,R,L,92,RL,R92L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-0.821,-3.53,2.709,0.256,H,A,1.75,-0.72,4.827,,81.07,0.000804572,0,0.0274375,0.731308
8607,P00480,R,T,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,17255,33808,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.27,probably_damaging,0.985,deleterious,0,4.31164,22.6,P00480_R94T,R,T,94,RT,R94T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-0.816,-3.627,2.811,0.316,H,A,0.98,-0.64,2.724,,81.07,0.000680023,0,0.0231902,0.786521
8608,P00480,L,S,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,17258,33805,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.27,benign,0.205,deleterious,0,3.06617,16.24,P00480_L95S,L,S,95,LS,L95S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.813,-3.875,2.062,0.745,H,A,0.82,0.04,4.324,,93.5,0.00416861,0,0.142158,0.790267
8620,P00480,H,R,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,28788,22275,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.33,possibly_damaging,0.818,deleterious,0.01,4.23812,22.1,P00480_H117R,H,R,117,HR,H117R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.822,-3.647,1.825,0.618,.,A,1.03,0.17,3.546,,58.76,0.00207399,0,0.0707275,0.84424
8621,P00480,H,L,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,28788,22275,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.33,probably_damaging,0.932,deleterious,0.01,4.33019,22.7,P00480_H117L,H,L,117,HL,H117L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.822,-2.959,1.137,0.618,.,A,0.72,0.17,16.23,16.23,58.76,0.00207399,0,0.0707275,0.833476
8623,P00480,D,G,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,28815,22248,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.36,probably_damaging,0.999,deleterious,0,4.15675,21.5,P00480_D126G,D,G,126,DG,D126G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.755,-2.677,1.922,0.494,H,A,0.46,0.15,22.036,22.036,48.02,0.000531577,0,0.0181279,0.866458
8638,P00480,A,T,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,67,2371,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.39,benign,0.27,deleterious,0.03,3.5521,18.12,P00480_A137T,A,T,137,AT,A137T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.806,-3.302,1.496,,E,B,0.22,-0.57,9.309,9.309,90.68,0.00570969,0,0.194712,0.834718
8683,P00480,T,M,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,58,2247,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.5,probably_damaging,1,deleterious,0,4.65737,25.6,P00480_T178M,T,M,178,TM,T178M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-0.846,-4.681,3.835,0.029,H,A,0.77,-0.85,0.896,,59.89,0.00119773,0,0.0408452,0.566004
8684,P00480,L,P,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,61,2244,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.51,probably_damaging,0.997,deleterious,0,4.31106,22.6,P00480_L179P,L,P,179,LP,L179P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.615,-4.358,2.743,,H,A,1.07,-1.01,1.59,,77.68,0.00535311,0,0.182552,0.54041
8775,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.38,0,,,,,,,,,10498,29,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,2.80048,15.33,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8826,O75787,D,D,107,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.38,0.01,,,,,,,,,351,396,ENSG00000182220,ENST00000378438,CCDS14252.1,ATP6AP2,0.31,,,,,0.997724,9.074,O75787_D107D,D,D,107,DD,D107D,negativeCharge,negativeCharge,5.05,5.05,0,133,133,0,111.1,111.1,0,0,,,,,,,,,,,,,,,0.959945
8909,P51795,G,V,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,3052,19856,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.08,probably_damaging,0.952,deleterious,0,4.32453,22.7,P51795_G57V,G,V,57,GV,G57V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,,,,,,,,,0.000359071,0,0.0122451,0.80525
9010,O60890,Q,X,62,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,37386,66,ENSG00000079482,ENST00000355520,CCDS14388.1,OPHN1,0.08,,,,,8.53608,41,O60890_Q62X,Q,X,62,QX,Q62X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
9083,P46100,T,M,1583,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,2400,766,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.65,probably_damaging,0.996,,,3.5428,18.08,P46100_T1583M,T,M,1583,TM,T1583M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,,,,0.953797
9086,P46100,L,S,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.05,,,,,,,,,102181,179144,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.15,probably_damaging,0.998,,,1.40647,10.64,P46100_L371S,L,S,371,LS,L371S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,,,,,,,,,,,,,,,0.903198
9091,Q9H0U3,V,G,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,54283,14947,ENSG00000102158,ENST00000358075,CCDS14436.2,MAGT1,0.85,possibly_damaging,0.886,deleterious,0,3.96212,20.3,Q9H0U3_V311G,V,G,311,VG,V311G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.376,-3.464,2.088,,,,,,1.495,,73.3,0.00958813,0,0.326975,0.810131
9092,Q04656,R,X,201,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,78019,61675,ENSG00000165240,ENST00000343533,,ATP7A,0.14,,,,,5.72342,36,Q04656_R201X,R,X,201,RX,R201X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9094,Q04656,R,X,902,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.04,,,,,,,,,118569,21125,ENSG00000165240,ENST00000343533,,ATP7A,0.63,,,,,9.08048,41,Q04656_R902X,R,X,902,RX,R902X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9125,P24386,E,X,343,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,153078,29897,ENSG00000188419,ENST00000537751,,CHM,0.68,,,,,4.19599,21.8,P24386_E343X,E,X,343,EX,E343X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
9188,P06280,R,Q,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,212,3,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.53,probably_damaging,1,deleterious,0,5.35978,34,P06280_R227Q,R,Q,227,RQ,R227Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.234,-3.458,2.224,0.034,E,B,0.56,0.22,0.985,,53.38,0.000547039,0,0.0186552,0.658267
9189,P06280,R,X,227,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,213,2,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.53,,,,,4.01914,20.6,P06280_R227X,R,X,227,RX,R227X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000547039,0,0.0186552,0.977351
9190,P06280,Y,X,222,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,226,12,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.52,,,,,4.81642,27.3,P06280_Y222X,Y,X,222,YX,Y222X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00383511,0,0.130785,0.945391
9243,P60891,G,R,306,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,10633,260,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.96,probably_damaging,0.913,deleterious,0,4.20854,21.8,P60891_G306R,G,R,306,GR,G306R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.161,-3.536,2.375,0.839,T,l,0.91,1.01,,,,0.0131296,0,0.447746,0.721284
9253,P29400,,,,Transcript,INTRONIC,2,intron,pathogenic,0.38,0.01,,,,,,,,,130812,126848,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,-0.312297,2.514,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9258,P29400,,,,Transcript,INTRONIC,2,intron,pathogenic,0.38,0,,,,,,,,,133680,123980,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,0.095444,4.514,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9283,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.38,0,,,,,,,,,141100,116560,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,3.81238,19.36,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9377,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.38,0,,,,,,,,,150,3730,ENSG00000188153,ENST00000505728,,COL4A5,,,,,,3.09254,16.33,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9404,P29400,,,,Transcript,INTRONIC,2,intron,pathogenic,0.38,0,,,,,,,,,227242,30418,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,0.35318,5.917,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9405,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.38,0,,,,,,,,,227250,30410,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.05966,20.9,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9456,O43602,Y,H,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,9628,70573,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.35,probably_damaging,1,deleterious,0,4.04002,20.7,O43602_Y125H,Y,H,125,YH,Y125H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.00185759,0,0.0633477,0.972003
9471,O15239,R,S,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,1825,3351,ENSG00000125356,ENST00000371437,CCDS14590.1,NDUFA1,0.53,possibly_damaging,0.795,tolerated,0.07,1.34273,10.41,O15239_R37S,R,S,37,RS,R37S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.281,-3.163,1.882,,,,,,,,,0.0174777,0,0.596025,0.820909
9478,Q96EU7,E,K,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.04,,,,,,,,,3283,782,ENSG00000171155,ENST00000371313,CCDS14602.1,C1GALT1C1,0.48,probably_damaging,0.998,deleterious,0,4.32676,22.7,Q96EU7_E152K,E,K,152,EK,E152K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,0.00240352,0,0.0819649,0.896931
9487,O60880,R,X,55,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,19197,5703,ENSG00000183918,ENST00000360027,CCDS48162.1,SH2D1A,0.44,,,,,4.95456,28.8,O60880_R55X,R,X,55,RX,R55X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00281376,0,0.0959551,0.951177
9491,O60880,P,L,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,23687,1213,ENSG00000183918,ENST00000360027,CCDS48162.1,SH2D1A,0.81,probably_damaging,0.999,deleterious,0,4.18881,21.7,O60880_P101L,P,L,101,PL,P101L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,0.459,E,B,1.07,-0.5,,,,0.00370866,0,0.126473,0.653871
9503,Q6ZUT3,G,R,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,27141,70,ENSG00000165694,ENST00000298542,CCDS35397.1,FRMD7,0.03,probably_damaging,1,deleterious,0,3.40713,17.51,Q6ZUT3_G24R,G,R,24,GR,G24R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.000675841,0,0.0230476,0.78896
9507,Q8IWS0,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.38,0.03,,,,,,,,,4246,37674,ENSG00000156531,ENST00000394292,,PHF6,0,benign,0.254,deleterious,0,2.83029,15.43,Q8IWS0_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.71,-3.157,1.447,,,,,,,,,0.00232719,0.00549451,0.079362,0.907771
9508,Q8IWS0,K,X,8,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,4266,37654,ENSG00000156531,ENST00000394292,,PHF6,0.02,,,,,7.29587,39,Q8IWS0_K8X,K,X,8,KX,K8X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00243396,0.0112045,0.083003,0.964034
9517,P00492,R,G,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,1823,23445,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.23,benign,0.215,deleterious,0.02,2.17685,13.24,P00492_R51G,R,G,51,RG,R51G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.704,-2.93,1.226,0.423,H,A,0.91,-0.21,4.935,,77.06,0.0086542,0,0.295126,0.876474
9518,P00492,R,X,51,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,1823,23445,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.23,,,,,6.52581,37,P00492_R51X,R,X,51,RX,R51X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0086542,0,0.295126,0.910588
9532,P00492,Y,X,153,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.01,,,,,,,,,20190,5078,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.7,,,,,5.55182,35,P00492_Y153X,Y,X,153,YX,Y153X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0067621,0,0.230602,0.915033
9533,P00492,A,S,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,20212,5056,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.74,probably_damaging,0.907,deleterious,0,6.01254,37,P00492_A161S,A,S,161,AS,A161S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.466,-2.931,1.465,,E,B,0.27,-0.75,1.068,,33.03,0.00774734,0,0.2642,0.70953
9579,P00740,G,S,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,0,0,0,,,,,,10349,7279,ENSG00000101981,ENST00000218099,CCDS14666.1,F9,0.23,probably_damaging,0.998,deleterious,0,4.76187,26.7,P00740_G106S,G,S,106,GS,G106S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,0.034,.,B,0.02,-0.75,,,,0.00240256,0,0.0819321,0.654609
9582,P00740,G,A,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,17685,58,ENSG00000101981,ENST00000394090,,F9,0.29,probably_damaging,0.98,deleterious,0,3.27693,17,P00740_G122A,G,A,122,GA,G122A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.809,-2.67,1.861,0.046,S,l,0.29,0.01,,,,0.00240331,0,0.081958,0.802132
9583,P00740,R,X,124,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.38,0.03,,,,,,,,,17690,63,ENSG00000101981,ENST00000394090,,F9,0.29,,,,,1.9792,12.58,P00740_R124X,R,X,124,RX,R124X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00255845,0,0.0872485,0.959768
9584,P00740,N,Y,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,17702,75,ENSG00000101981,ENST00000394090,,F9,0.3,possibly_damaging,0.621,deleterious,0,1.82575,12.06,P00740_N128Y,N,Y,128,NY,N128Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,,,,,,,,,,,,0.000683434,0,0.0233065,0.96625
9593,P00740,C,W,230,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,30056,1251,ENSG00000101981,ENST00000394090,,F9,0.54,probably_damaging,1,deleterious,0,3.12606,16.45,P00740_C230W,C,W,230,CW,C230W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,0.00191637,0,0.0653522,0.948917
9622,P00740,G,R,404,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,31244,63,ENSG00000101981,ENST00000394090,,F9,0.96,probably_damaging,1,deleterious,0,4.71978,26.3,P00740_G404R,G,R,404,GR,G404R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00389868,0,0.132953,0.945499
9623,P00740,I,T,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.01,,,,,,,,,31248,59,ENSG00000101981,ENST00000394090,,F9,0.96,probably_damaging,0.956,deleterious,0,4.026,20.7,P00740_I405T,I,T,405,IT,I405T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.00354731,0,0.120971,0.966884
9649,P22304,S,I,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.03,,,,,,,,,2387,2814,ENSG00000010404,ENST00000370443,,IDS,0.49,probably_damaging,1,deleterious,0,4.56065,24.7,P22304_S152I,S,I,152,SI,S152I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-1.146,-3.602,2.456,,,,,,,,,0.00289117,0.00251256,0.0985947,0.779123
9784,O60832,K,E,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.38,0.05,,,,,,,,,559,131,ENSG00000130826,ENST00000437719,,DKC1,0.13,benign,0.002,tolerated,0.84,1.09673,9.475,O60832_K29E,K,E,29,KE,K29E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.00198168,0.00618557,0.0675794,0.974396
22,Q9HC77,D,H,63,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.39,0.01,0.023,0.067,0,0.03,,0.01,0.11,0.001,9998,29799,ENSG00000151849,ENST00000381884,CCDS9310.1,CENPJ,0.05,possibly_damaging,0.624,deleterious,0.01,1.84316,12.12,Q9HC77_D63H,D,H,63,DH,D63H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.664,-4.377,2.713,,,,,,2.576,,9.42,0.000335814,0,0.0132807,0.792342
106,Q8NEM0,D,H,314,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.39,0.03,0.676,0.374,0.814,0.68,0.78,0.83,0.25,0.82,38019,1229,ENSG00000147316,ENST00000519480,CCDS55190.1,MCPH1,0.51,benign,0.052,deleterious,0.03,1.75921,11.84,Q8NEM0_D314H,D,H,314,DH,D314H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.574,-4.626,3.052,,,,,,2.095,,31.14,0.000793679,0,0.0313883,0.841824
193,P48357,Q,R,223,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.39,0.01,0.49,0.561,0.454,0.59,0.87,0.42,0.54,0.49,27284,17439,ENSG00000116678,ENST00000349533,CCDS631.1,LEPR,0.19,benign,0.098,tolerated,0.19,2.27113,13.55,P48357_Q223R,Q,R,223,QR,Q223R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.803,-3.122,1.319,,,,,,26.874,26.874,66.95,0.000517566,0,0.0204686,0.966824
195,P43246,G,D,322,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.39,0,0.011,0.004,0.015,0.01,,0.01,0.004,0.02,13188,66904,ENSG00000095002,ENST00000406134,,MSH2,0.35,benign,0.311,tolerated,0.05,3.3442,17.26,P43246_G322D,G,D,322,GD,G322D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.989,-3.095,1.106,,,,,,35,35,92.18,0.00176197,0,0.0696822,0.969096
318,P02768,D,G,338,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.39,0.01,,,,,,,,,15,1807,ENSG00000163631,ENST00000509063,,ALB,0.56,benign,0.005,tolerated,0.3,0.233771,5.262,P02768_D338G,D,G,338,DG,D338G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.758,-2.739,0.981,0.445,.,l,0.46,1.24,21.265,21.265,61.41,0.00194946,0,0.0770971,0.874843
319,P02768,D,V,338,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.39,0.01,,,,,,,,,15,1807,ENSG00000163631,ENST00000509063,,ALB,0.56,benign,0.195,deleterious,0.01,1.15368,9.698,P02768_D338V,D,V,338,DV,D338V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.758,-3.983,2.225,0.445,.,l,1.19,1.24,3.43,,61.41,0.00194946,0,0.0770971,0.729691
327,P02768,K,N,337,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.39,0.01,,,,,,,,,13,1809,ENSG00000163631,ENST00000509063,,ALB,0.56,possibly_damaging,0.701,deleterious,0.04,1.82461,12.06,P02768_K337N,K,N,337,KN,K337N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-1.86,-2.982,1.122,0.33,S,B,1.73,1.22,18.15,18.15,75.7,0.00214015,0,0.0846382,0.911065
329,P02768,N,K,342,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.39,0,,,,,,,,,28,1794,ENSG00000163631,ENST00000509063,,ALB,0.57,benign,0.026,tolerated,1,-1.01231,0.243,P02768_N342K,N,K,342,NK,N342K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-2.409,-2.657,0.248,0.388,H,A,1.73,0.09,13.33,13.33,76.85,0.00166212,0,0.0657332,0.948255
385,O75445,R,Q,2875,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.39,0.03,0.03,0.021,0.035,0.02,,0.03,0.02,0.03,545582,254921,ENSG00000042781,ENST00000366943,,USH2A,0.55,benign,0.229,tolerated,0.44,2.13518,13.1,O75445_R2875Q,R,Q,2875,RQ,R2875Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
280,Q16518,V,G,452,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,18800,2338,ENSG00000116745,ENST00000262340,CCDS643.1,RPE65,0.85,probably_damaging,0.997,deleterious,0,3.91653,19.92,Q16518_V452G,V,G,452,VG,V452G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.376,-3.464,2.088,0.008,T,A,0.73,-0.17,1.767,,86.68,0.00319367,0,0.108911,0.714784
283,Q16518,R,X,234,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.04,,,,,,,,,10374,10764,ENSG00000116745,ENST00000262340,CCDS643.1,RPE65,0.44,,,,,6.22603,37,Q16518_R234X,R,X,234,RX,R234X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0023387,0,0.0797544,0.959768
291,P11310,M,I,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,219,14669,ENSG00000117054,ENST00000370841,CCDS668.1,ACADM,0.35,benign,0.249,deleterious,0.02,4.20041,21.8,P11310_M149I,M,I,149,MI,M149I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.826,-2.848,1.022,,H,A,0.07,-0.05,10.524,,91.45,0.00440503,0,0.150221,0.924393
300,Q0ZGT2,P,T,511,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,921,122,ENSG00000162614,ENST00000342754,,NEXN,0.89,probably_damaging,0.985,deleterious,0,3.22681,16.81,Q0ZGT2_P511T,P,T,511,PT,P511T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,,,,0.956379
326,P35573,R,X,1228,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.04,,,,,,,,,41566,21245,ENSG00000162688,ENST00000370163,CCDS759.1,AGL,0.8,,,,,8.54901,41,P35573_R1228X,R,X,1228,RX,R1228X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
398,P43235,K,X,52,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,,,,,,,,,578,2150,ENSG00000143387,ENST00000271651,CCDS969.1,CTSK,0.16,,,,,5.52352,35,P43235_K52X,K,X,52,KX,K52X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00527537,0,0.179901,0.937083
411,P55265,L,P,966,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,66,2675,ENSG00000160710,ENST00000292205,,ADAR,0.76,probably_damaging,0.999,deleterious,0,4.00462,20.5,P55265_L966P,L,P,966,LP,L966P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00124478,0,0.0424494,0.905673
546,P31513,E,K,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,0.429,0.465,0.41,0.35,0.21,0.3,0.52,0.38,7063,72,ENSG00000007933,ENST00000367755,CCDS1292.1,FMO3,0.3,benign,0.017,tolerated,0.48,1.26243,10.12,P31513_E158K,E,K,158,EK,E158K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.952,-3.254,1.302,,,,,,4.248,,83.83,0.00318719,0,0.10869,0.971226
633,P08603,C,R,536,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,38691,31826,ENSG00000000971,ENST00000367429,CCDS1385.1,CFH,0.44,probably_damaging,0.98,deleterious,0,2.29392,13.63,P08603_C536R,C,R,536,CR,C536R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.01,-4.067,3.057,,,,,0.88,,,,0.00033746,0,0.0115081,0.705193
635,P08603,R,S,1078,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,66564,3953,ENSG00000000971,ENST00000367429,CCDS1385.1,CFH,0.88,possibly_damaging,0.876,tolerated,0.26,2.72935,15.09,P08603_R1078S,R,S,1078,RS,R1078S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-2.539,-3.306,0.767,,,,,3.37,4.5,,66.37,0.00158478,0,0.0540442,0.905932
661,Q8IZT6,S,X,1176,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.04,,,,,,,,,12686,38327,ENSG00000066279,ENST00000367409,CCDS1389.1,ASPM,0.34,,,,,11.1237,44,Q8IZT6_S1176X,S,X,1176,SX,S1176X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
710,O75445,R,G,4674,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,752312,48191,ENSG00000042781,ENST00000366943,,USH2A,0.89,probably_damaging,0.999,deleterious,0.02,3.25528,16.92,O75445_R4674G,R,G,4674,RG,R4674G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.212,-3.259,2.047,,,,,,1.719,,39.37,,,,0.76053
782,Q92736,L,P,417,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,183899,378363,ENSG00000198626,ENST00000542537,,RYR2,0.08,possibly_damaging,0.501,deleterious,0,2.74681,15.15,Q92736_L417P,L,P,417,LP,L417P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
810,P23771,R,X,366,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,,,,,,,,,15388,278,ENSG00000107485,ENST00000346208,CCDS7083.1,GATA3,0.83,,,,,7.68251,39,P23771_R366X,R,X,366,RX,R366X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000949295,0,0.0323729,0.908362
964,P00367,R,H,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,44,56,ENSG00000148672,ENST00000277865,CCDS7382.1,GLUD1,0.58,benign,0.065,deleterious,0.04,4.22063,21.9,P00367_R322H,R,H,322,RH,R322H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.594,H,A,1.03,0.52,,,,0.00398874,0,0.136024,0.741312
979,P60484,G,E,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,7622,343,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.32,probably_damaging,1,deleterious,0,5.02902,29.7,P60484_G129E,G,E,129,GE,G129E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.008,-3.347,2.339,,,,,,,,,0.000616203,0,0.0210138,0.80857
994,P25445,D,Y,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,22777,4,ENSG00000026103,ENST00000357339,CCDS7394.1,FAS,0.76,probably_damaging,1,deleterious,0,3.82562,19.43,P25445_D239Y,D,Y,239,DY,D239Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.00492904,0,0.16809,0.925478
995,P25445,D,V,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,22778,5,ENSG00000026103,ENST00000357339,CCDS7394.1,FAS,0.76,probably_damaging,1,deleterious,0,3.84143,19.51,P25445_D239V,D,V,239,DV,D239V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.00492904,0,0.16809,0.937959
1074,P21802,A,T,557,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,27145,4317,ENSG00000066468,ENST00000336553,,FGFR2,0.83,probably_damaging,0.999,deleterious,0.02,4.94455,28.7,P21802_A557T,A,T,557,AT,A557T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000338618,0,0.0115476,0.995273
1119,P04181,Q,E,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,106,4,ENSG00000065154,ENST00000368845,CCDS7639.1,OAT,0.21,probably_damaging,0.995,deleterious,0,4.77903,26.9,P04181_Q90E,Q,E,90,QE,Q90E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,-1.489,-2.5,1.011,0.011,T,A,0.4,0.04,,,,0.00101242,0,0.0345255,0.867524
1318,Q75V66,R,C,758,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,0.001,,,,0.003,4208,3430,ENSG00000171714,ENST00000324559,CCDS31444.1,ANO5,0.83,probably_damaging,0.997,deleterious,0,3.25366,16.91,Q75V66_R758C,R,C,758,RC,R758C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.336,-2.43,1.094,,,,,,12.175,12.175,25.19,0.00108308,0,0.0369352,0.880406
1372,P55895,M,R,285,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,1441,159,ENSG00000175097,ENST00000311485,CCDS7903.1,RAG2,0.54,probably_damaging,0.971,deleterious,0,3.36796,17.35,P55895_M285R,M,R,285,MR,M285R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.661,-3.766,2.105,,,,,,2.177,,88.99,0.00174249,0,0.0594224,0.900476
1704,Q13614,E,X,204,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,,,,,,,,,63237,772,ENSG00000087053,ENST00000444541,,MTMR2,0.37,,,,,5.92324,36,Q13614_E204X,E,X,204,EX,E204X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
1716,Q8NCM8,I,T,1240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,45901,323777,ENSG00000187240,ENST00000398093,CCDS44717.1,DYNC2H1,0.29,possibly_damaging,0.536,deleterious,0,3.35659,17.31,Q8NCM8_I1240T,I,T,1240,IT,I1240T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.313,-3.198,1.885,,,,,,,,,,,,0.848707
1953,Q9GZX7,F,S,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,2119,613,ENSG00000111732,ENST00000545512,,AICDA,0.76,probably_damaging,0.997,deleterious,0,4.01007,20.6,Q9GZX7_F150S,F,S,150,FS,F150S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,0.00699422,0,0.238517,0.893514
1954,Q9GZX7,C,X,146,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.04,,,,,,,,,2108,624,ENSG00000111732,ENST00000545512,,AICDA,0.74,,,,,4.61277,25.2,Q9GZX7_C146X,C,X,146,CX,C146X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00757953,0,0.258478,0.916717
1964,P54840,M,R,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,58427,10232,ENSG00000111713,ENST00000261195,CCDS8690.1,GYS2,0.7,possibly_damaging,0.479,deleterious,0,2.96107,15.87,P54840_M491R,M,R,491,MR,M491R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.776,-3.588,1.812,,,,,,1.952,,79.8,0.00135797,0,0.0463095,0.946829
1972,P07195,S,R,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,10600,25,ENSG00000111716,ENST00000450584,,LDHB,0.94,probably_damaging,0.999,deleterious,0,4.89537,28.2,P07195_S129R,S,R,129,SR,S129R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.348,-3.443,2.095,0.008,.,b,0.93,-0.83,,,,0.00156168,0,0.0532564,0.605686
1980,P01116,P,R,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,5520,11465,ENSG00000133703,ENST00000256078,CCDS8703.1,KRAS,0.18,probably_damaging,1,deleterious,0,4.63258,25.4,P01116_P34R,P,R,34,PR,P34R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.458,-3.536,2.078,0.827,.,B,0.68,1.36,,,,0.00109641,0,0.0373897,0.828082
1996,Q7Z4S6,M,T,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,9602,1075,ENSG00000139116,ENST00000541463,CCDS53774.1,KIF21A,0.22,probably_damaging,0.956,deleterious,0,3.92064,19.94,Q7Z4S6_M356T,M,T,356,MT,M356T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.71,-3.157,1.447,,,,,,,,,,,,0.864855
2180,P21583,N,S,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.05,,,,,,,,,34688,26941,ENSG00000049130,ENST00000228280,CCDS31868.1,KITLG,0.13,benign,0.011,tolerated,0.18,2.64343,14.8,P21583_N36S,N,S,36,NS,N36S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.91,-2.997,1.087,0.494,.,l,0.34,0.86,4.596,,87.91,0.00342383,0,0.11676,0.916403
2237,P00439,A,V,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,62,18016,ENSG00000171759,ENST00000551337,,PAH,0.35,benign,0.036,deleterious,0.04,3.37827,17.39,P00439_A47V,A,V,47,AV,A47V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,0.136,H,A,0.44,0.8,,,,0.00295344,0,0.100718,0.806427
2238,P00439,G,S,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,58,18020,ENSG00000171759,ENST00000551337,,PAH,0.34,possibly_damaging,0.788,deleterious,0,4.85287,27.7,P00439_G46S,G,S,46,GS,G46S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,0.471,T,l,0.02,1.41,,,,0.00151335,0,0.0516085,0.795072
2239,P00439,F,L,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,0,0,0,,,,,,39,18039,ENSG00000171759,ENST00000551337,,PAH,0.29,possibly_damaging,0.553,deleterious,0,3.59591,18.31,P00439_F39L,F,L,39,FL,F39L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.678,-1.761,0.083,0.024,E,b,0.03,-0.69,22.764,22.764,60.62,0.00203324,0,0.0693376,0.890372
2292,O15119,K,X,273,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,,,,,,,,,2290,52,ENSG00000135111,ENST00000349155,CCDS9175.1,TBX3,0.38,,,,,12.8898,46,O15119_K273X,K,X,273,KX,K273X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000172426,0,0.0058801,0.98231
2392,Q9P2R7,R,C,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,0,0,0,,,,,,45,57,ENSG00000136143,ENST00000433022,,SUCLA2,0.88,probably_damaging,0.995,deleterious,0,4.34651,22.9,Q9P2R7_R136C,R,C,136,RC,R136C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
2432,P35670,G,S,513,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.05,,,,,,,,,12216,8629,ENSG00000123191,ENST00000400370,,ATP7B,0.5,,,tolerated,0.05,4.75705,26.6,P35670_G513S,G,S,513,GS,G513S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.000609072,0,0.0207706,0.993008
2464,P28715,A,T,874,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,0,0,0,,,,,,2256,59,ENSG00000134899,ENST00000355739,CCDS32004.1,ERCC5,0.74,probably_damaging,0.923,deleterious,0,5.51322,35,P28715_A874T,A,T,874,AT,A874T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.131,-3.225,2.094,,,,,,1.019,,34.57,0.000523763,0,0.0178614,0.881582
2680,P49768,L,V,282,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.05,,,,,,,,,407,13737,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.61,probably_damaging,0.989,deleterious,0,4.9095,28.3,P49768_L282V,L,V,282,LV,L282V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.372,-2.476,1.104,,,,,,12.23,,69.38,0.00335672,0,0.114471,0.980891
2682,P49768,L,P,388,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,11018,13,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.84,probably_damaging,1,deleterious,0,4.82027,27.3,P49768_L388P,L,P,388,LP,L388P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.0025851,0,0.0881573,0.956264
2714,P16473,R,Q,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,0,0,0,,,,,,132307,3171,ENSG00000165409,ENST00000554435,CCDS55935.1,TSHR,0.4,probably_damaging,0.999,tolerated,0.59,3.17644,16.63,P16473_R109Q,R,Q,109,RQ,R109Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.186,-2.214,0.028,0.009,E,B,0.56,-0.82,18.257,18.257,85.34,0.00106814,0,0.0364257,0.86868
3238,Q14894,X,Y,315,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.39,0,,,,,,,,,3378,259,ENSG00000103316,ENST00000396023,CCDS10597.1,CRYM,1,,,,,0.564667,7.052,Q14894_X315Y,X,Y,315,XY,X315Y,Stop,Hydrophobic,5.71,5.66,-0.05,132.5,181,48.5,141.9,193.6,51.7,,,,,,,,,,,,,,,,0.93497
3239,Q14894,K,T,314,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,3374,263,ENSG00000103316,ENST00000396023,CCDS10597.1,CRYM,1,possibly_damaging,0.598,deleterious,0.01,3.09909,16.35,Q14894_K314T,K,T,314,KT,K314T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.577,-3.102,1.525,,,,,,3.302,,65.92,,,,0.868865
3257,Q86YC2,G,G,853,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.39,0.01,,,,,,,,,8705,5160,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.72,,,,,-0.593601,1.343,Q86YC2_G853G,G,G,853,GG,G853G,Special,Special,3.29,3.29,0,75,75,0,60.1,60.1,0,0,,,,,,,,,,,,0.00145886,0,0.0497503,0.926758
3262,Q86YC2,E,X,545,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,,,,,,,,,3023,10842,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.46,,,,,5.39097,34,Q86YC2_E545X,E,X,545,EX,E545X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000969304,0,0.0330553,0.910457
3328,Q9BXC9,D,A,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,1645,4483,ENSG00000125124,ENST00000568104,,BBS2,0.15,probably_damaging,1,deleterious,0,4.61097,25.2,Q9BXC9_D104A,D,A,104,DA,D104A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-1.227,-3.143,1.916,,,,,,4.027,,92.23,0.00104611,0,0.0356745,0.945913
3594,P21359,R,P,1276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,2699,18564,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.45,probably_damaging,0.994,deleterious,0,5.10817,32,P21359_R1276P,R,P,1276,RP,R1276P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.582,-3.561,1.979,,,,,,,,,,,,0.780062
3628,Q99456,L,R,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,443,5465,ENSG00000187242,ENST00000251643,CCDS11378.1,KRT12,0.28,probably_damaging,0.999,deleterious,0,3.95881,20.3,Q99456_L140R,L,R,140,LR,L140R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-0.941,-3.808,2.867,,,,,,,,,0.000487496,0,0.0166246,0.803746
3629,Q99456,R,I,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,428,5480,ENSG00000187242,ENST00000251643,CCDS11378.1,KRT12,0.27,probably_damaging,1,deleterious,0,5.29324,34,Q99456_R135I,R,I,135,RI,R135I,PositiveCharge,Hydrophobic,6.34,6.02,-0.32,174,131,-43,173.4,166.7,-6.7,97,-1.064,-3.885,2.821,,,,,,,,,0.000510987,0,0.0174257,0.807495
3630,Q99456,R,T,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,428,5480,ENSG00000187242,ENST00000251643,CCDS11378.1,KRT12,0.27,probably_damaging,1,deleterious,0,5.01141,29.5,Q99456_R135T,R,T,135,RT,R135T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.064,-3.296,2.232,,,,,,,,,0.000510987,0,0.0174257,0.817547
3631,Q99456,R,G,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,427,5481,ENSG00000187242,ENST00000251643,CCDS11378.1,KRT12,0.27,probably_damaging,1,deleterious,0,4.31723,22.6,Q99456_R135G,R,G,135,RG,R135G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.064,-3.233,2.169,,,,,,,,,0.000510987,0,0.0174257,0.791012
4012,Q9Y4W6,T,I,654,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,37033,11276,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.82,probably_damaging,1,deleterious,0,4.71087,26.2,Q9Y4W6_T654I,T,I,654,TI,T654I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.245,-3.296,2.051,0.094,H,A,0.7,-1.4,,,,0.000693841,0,0.0236614,0.609395
4053,Q14126,G,C,812,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,0,0,0,,,,,,11092,3189,ENSG00000046604,ENST00000261590,CCDS42423.1,DSG2,0.73,probably_damaging,1,deleterious,0,3.75885,19.08,Q14126_G812C,G,C,812,GC,G812C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.741,-4.962,4.221,,,,,,,,,0.000764722,0,0.0260786,0.779435
4119,O43520,G,V,308,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.05,,,,,,,,,36620,48759,ENSG00000081923,ENST00000283684,CCDS11965.1,ATP8B1,0.25,probably_damaging,1,deleterious,0,3.83521,19.48,O43520_G308V,G,V,308,GV,G308V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,0.0001057,0,0.00360458,0.806553
4133,P32245,Y,X,287,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,,,,,,,,,1280,158,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.86,,,,,7.22947,38,P32245_Y287X,Y,X,287,YX,Y287X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0020844,0,0.0710823,0.953488
4557,P40939,R,X,291,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,,,,,,,,,604,2393,ENSG00000084754,ENST00000380649,CCDS1721.1,HADHA,0.38,,,,,6.73705,38,P40939_R291X,R,X,291,RX,R291X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00185246,0,0.0631726,0.959275
4620,Q9UBP0,N,S,386,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,63299,30631,ENSG00000021574,ENST00000315285,CCDS1778.1,SPAST,0.63,probably_damaging,0.995,tolerated,0.07,4.2836,22.4,Q9UBP0_N386S,N,S,386,NS,N386S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.26,-2.671,1.411,0.062,S,a,0.34,-1.25,,,,0.00142444,0,0.0485762,0.714014
4676,P43246,R,X,680,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.01,,,,,,,,,73269,6823,ENSG00000095002,ENST00000406134,,MSH2,0.74,,,,,8.1144,40,P43246_R680X,R,X,680,RX,R680X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0005397,0,0.0184049,0.977351
4694,P22888,A,V,346,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,18882,1010,ENSG00000138039,ENST00000405626,,LHCGR,0.51,probably_damaging,0.993,deleterious,0,4.4359,23.6,P22888_A346V,A,V,346,AV,A346V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00168047,0,0.0573076,0.914935
4709,P62979,S,P,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,0.002,0.001,0.002,0.001,,,,0.003,827,351,ENSG00000143947,ENST00000449323,,RPS27A,0.54,probably_damaging,1,deleterious,0,4.87975,28,P62979_S57P,S,P,57,SP,S57P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.864,-3.258,1.394,,,,,,,,,0.00457128,0,0.15589,0.88604
4928,Q9HCR9,R,X,57,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.05,0.004,0.001,0.005,0.002,,,,0.01,58302,386384,ENSG00000128655,ENST00000358450,CCDS42785.1,PDE11A,0.08,,,,,5.29152,34,Q9HCR9_R57X,R,X,57,RX,R57X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4961,Q6NVY1,Y,C,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,61,38259,ENSG00000198130,ENST00000359678,CCDS2304.1,HIBCH,0.32,probably_damaging,1,deleterious,0,2.72498,15.07,Q6NVY1_Y122C,Y,C,122,YC,Y122C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,,H,A,0.25,-0.7,,,,0.00180079,0,0.0614106,0.564874
4965,P10809,V,I,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,233,11,ENSG00000144381,ENST00000544407,,HSPD1,0.62,possibly_damaging,0.7,deleterious,0.05,5.01989,29.6,P10809_V98I,V,I,98,VI,V98I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.465,-2.342,0.877,,H,A,0.04,0,,,,0.00173317,0,0.0591047,0.90023
4975,Q13873,Y,X,40,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.07,,,,,,,,,26,10288,ENSG00000204217,ENST00000374574,,BMPR2,0.08,,,,,6.04085,37,Q13873_Y40X,Y,X,40,YX,Y40X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000543133,0,0.018522,0.970188
4978,Q13873,C,S,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,2812,7502,ENSG00000204217,ENST00000374574,,BMPR2,0.23,probably_damaging,0.999,deleterious,0,4.72154,26.3,Q13873_C123S,C,S,123,CS,C123S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.412,-3.121,1.709,,,,,,,,,0.00015979,0,0.00544917,0.902911
4979,Q13873,C,R,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,2812,7502,ENSG00000204217,ENST00000374574,,BMPR2,0.23,probably_damaging,0.999,deleterious,0,4.24027,22.1,Q13873_C123R,C,R,123,CR,C123R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,0.00015979,0,0.00544917,0.800457
5004,P31327,Q,X,44,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0,,,,,,,,,16763,3174,ENSG00000021826,ENST00000417946,,CPS1,0.36,,,,,6.6083,37,P31327_Q44X,Q,X,44,QX,Q44X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
5301,Q15437,E,K,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,0,0,0,0.001,,,0.002,,4718,290,ENSG00000101310,ENST00000377475,CCDS13137.1,SEC23B,0.14,probably_damaging,0.999,deleterious,0,5.67586,36,Q15437_E109K,E,K,109,EK,E109K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.000451922,0,0.0154115,0.918384
5754,Q8NBK3,S,P,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,0,0,0,,,,,,17924,87213,ENSG00000144455,ENST00000534863,,SUMF1,0.36,possibly_damaging,0.896,tolerated,0.12,4.31445,22.6,Q8NBK3_S155P,S,P,155,SP,S155P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.239,-3.432,2.193,0.024,E,B,0.25,0.2,,,,0.0029298,0,0.0999123,0.697817
6067,P28069,W,R,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,14365,2201,ENSG00000064835,ENST00000561167,,POU1F1,0.54,benign,0.003,deleterious,0,2.85092,15.5,P28069_W118R,W,R,118,WR,W118R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00328008,0,0.111857,0.952892
6081,Q3SXY8,W,X,82,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.01,,,,,,,,,23486,129,ENSG00000169379,ENST00000394222,CCDS2925.1,ARL13B,0.19,,,,,6.20329,37,Q3SXY8_W82X,W,X,82,WX,W82X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00041605,0,0.0141881,0.956807
6226,O00469,T,I,608,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,216,1145,ENSG00000152952,ENST00000360060,CCDS3131.1,PLOD2,0.82,probably_damaging,0.999,deleterious,0,4.60782,25.1,O00469_T608I,T,I,608,TI,T608I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-0.831,-3.002,2.171,,,,,,7.995,7.995,55.22,0.00159924,0,0.0545375,0.856743
6239,Q9H244,R,Q,256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,2775,80,ENSG00000169313,ENST00000302632,CCDS3159.1,P2RY12,0.75,probably_damaging,0.959,deleterious,0,5.27252,33,Q9H244_R256Q,R,Q,256,RQ,R256Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.101,-3.305,2.204,,,,,,,,,0.00218097,0,0.0743755,0.813028
6513,P10721,D,G,816,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,3875,235,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.84,probably_damaging,0.999,deleterious,0,4.61091,25.2,P10721_D816G,D,G,816,DG,D816G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.985,-2.95,1.965,0.299,.,b,0.46,1.28,,,,0.000475311,0,0.0162091,0.806427
6546,P58335,Y,C,381,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,87706,6336,ENSG00000163297,ENST00000307333,CCDS47086.1,ANTXR2,0.78,probably_damaging,0.991,tolerated,0.08,3.5354,18.04,P58335_Y381C,Y,C,381,YC,Y381C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,,,,,,,,,0.00316531,0,0.107944,0.745116
6567,P37840,E,K,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,7511,5818,ENSG00000145335,ENST00000506244,CCDS3634.1,SNCA,0.33,benign,0.429,deleterious,0,3.82456,19.42,P37840_E46K,E,K,46,EK,E46K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.521,-2.042,0.521,0.834,H,A,1.3,0.23,17.416,17.416,85.71,0.0098687,0,0.336543,0.980263
6578,O00462,S,P,505,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,103061,25885,ENSG00000109323,ENST00000226578,CCDS3658.1,MANBA,0.57,probably_damaging,0.999,deleterious,0,4.31496,22.6,O00462_S505P,S,P,505,SP,S505P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.019,-3.528,2.509,,,,,,14.24,14.24,41.75,0.00104063,0,0.0354876,0.83142
6638,P20933,G,R,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,6375,12,ENSG00000038002,ENST00000264595,CCDS3829.1,AGA,0.87,probably_damaging,0.999,deleterious,0,5.01697,29.6,P20933_G302R,G,R,302,GR,G302R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,0.011,E,b,0.91,0,,,,0.00759316,0,0.258942,0.590898
6745,Q6KC79,D,E,864,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,24266,11231,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.32,benign,0.001,tolerated,0.36,0.650101,7.488,Q6KC79_D864E,D,E,864,DE,D864E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-2.074,-2.222,0.148,,,,,,27.481,27.481,52.46,,,,0.948986
6763,P02748,S,X,427,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,0,0,0,,,,,,57808,22491,ENSG00000113600,ENST00000263408,CCDS3929.1,C9,0.76,,,,,6.29134,37,P02748_S427X,S,X,427,SX,S427X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00259435,0,0.0884726,0.953542
6780,P10912,C,S,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,129129,24807,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.18,probably_damaging,0.982,deleterious,0,4.46079,23.8,P10912_C112S,C,S,112,CS,C112S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.111,-3.241,2.13,,E,B,0.73,-1.05,,,,0.000415074,0,0.0141549,0.600496
6814,Q9HCC0,P,R,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,8522,77,ENSG00000131844,ENST00000509539,,MCCC2,0.3,probably_damaging,1,deleterious,0,4.28368,22.4,Q9HCC0_P85R,P,R,85,PR,P85R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,0.00234572,0,0.0799937,0.95701
6815,P07686,R,X,59,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.04,,,,,,,,,46,7253,ENSG00000049860,ENST00000511181,,HEXB,0.18,,,,,12.1467,46,P07686_R59X,R,X,59,RX,R59X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00255538,0,0.0871437,0.959768
6884,Q9Y6B6,D,N,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,4644,1406,ENSG00000152700,ENST00000509730,,SAR1B,0.58,probably_damaging,0.985,deleterious,0,5.12219,32,Q9Y6B6_D69N,D,N,69,DN,D69N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00807939,0,0.275524,0.947649
6934,P04150,F,L,737,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,118839,203,ENSG00000113580,ENST00000394464,CCDS4278.1,NR3C1,0.95,probably_damaging,0.999,tolerated,0.13,4.07797,21,P04150_F737L,F,L,737,FL,F737L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.149,-2.725,1.576,0.101,H,A,0.03,0.19,,,,0.00695434,0,0.237157,0.812075
6936,P04150,D,V,641,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,105292,13750,ENSG00000113580,ENST00000394464,CCDS4278.1,NR3C1,0.82,benign,0.295,deleterious,0,3.99964,20.5,P04150_D641V,D,V,641,DV,D641V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.28,-3.529,2.249,0.567,H,A,1.19,0.51,2.359,,75.42,0.00262441,0,0.0894978,0.78534
6939,P04150,R,H,477,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.05,,,,,,,,,79867,9574,ENSG00000113580,ENST00000394464,CCDS4278.1,NR3C1,0.61,probably_damaging,1,deleterious,0,5.91306,36,P04150_R477H,R,H,477,RH,R477H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.00047337,0,0.0161429,0.825283
6959,P50443,N,D,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,2886,6540,ENSG00000155850,ENST00000286298,CCDS4300.1,SLC26A2,0.58,probably_damaging,1,deleterious,0,4.126,21.3,P50443_N425D,N,D,425,ND,N425D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.008,-2.874,1.866,,,,,,,,,0.000472121,0,0.0161003,0.917909
7194,Q92481,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.39,0.07,,,,,,,,,19248,5765,ENSG00000008196,ENST00000393655,CCDS4934.2,TFAP2B,,,,,,4.48158,24,Q92481_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7219,Q9GZR5,Y,X,270,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.01,,,,,,,,,30838,1931,ENSG00000118402,ENST00000369816,CCDS4992.1,ELOVL4,0.86,,,,,6.20705,37,Q9GZR5_Y270X,Y,X,270,YX,Y270X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
7240,Q03692,Y,C,597,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,832,1300,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.88,,,deleterious,0,2.40213,13.99,Q03692_Y597C,Y,C,597,YC,Y597C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.023,-4.718,3.695,,E,B,0.25,0.23,,,,0.00112467,0,0.0383536,0.639986
7242,Q03692,C,R,591,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,813,1319,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.87,,,deleterious,0,1.78095,11.91,Q03692_C591R,C,R,591,CR,C591R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.25,-3.947,2.697,,.,B,1.66,1.01,1.695,,42.79,0.00270627,0,0.0922894,0.617807
7280,Q8N157,R,X,351,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.04,,,,,,,,,40147,69810,ENSG00000135541,ENST00000457866,CCDS47483.1,AHI1,0.29,,,,,8.37019,40,Q8N157_R351X,R,X,351,RX,R351X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000551957,0,0.0188229,0.977351
7372,Q9H0P0,Q,X,177,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.07,,,,,,,,,1442,297,ENSG00000122643,ENST00000405342,CCDS34617.1,NT5C3,0.6,,,,,4.17955,21.6,Q9H0P0_Q177X,Q,X,177,QX,Q177X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00463818,0,0.158172,0.93904
7382,Q8TAP9,M,V,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,0,0,0,,,,,,1491,426,ENSG00000168303,ENST00000306984,CCDS5463.1,MPLKIP,0.8,benign,0.248,deleterious,0,3.09647,16.34,Q8TAP9_M144V,M,V,144,MV,M144V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.406,-2.671,1.265,,,,,,,,,0.00187404,0,0.0639085,0.907224
7494,O00522,Q,E,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,85,49,ENSG00000001631,ENST00000394503,CCDS34679.1,KRIT1,0.29,benign,0.007,tolerated,0.09,3.43461,17.62,O00522_Q201E,Q,E,201,QE,Q201E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,-2.419,-2.574,0.155,,,,,,9.767,9.767,92.53,0.000401575,0,0.0136945,1.02478
7520,Q9UJS0,E,X,601,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.05,,,,,,,,,304,739,ENSG00000004864,ENST00000265631,CCDS5645.1,SLC25A13,0.89,,,,,7.74897,39,Q9UJS0_E601X,E,X,601,EX,E601X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00131072,0,0.0446983,0.902682
7521,Q9UJS0,E,K,601,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.05,,,,,,,,,304,739,ENSG00000004864,ENST00000265631,CCDS5645.1,SLC25A13,0.89,probably_damaging,0.99,deleterious,0,5.0408,29.8,Q9UJS0_E601K,E,K,601,EK,E601K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.00131072,0,0.0446983,0.838185
7652,P13569,F,S,1256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,4839,24495,ENSG00000001626,ENST00000426809,,CFTR,0.87,probably_damaging,0.999,deleterious,0,4.3997,23.3,P13569_F1256S,F,S,1256,FS,F1256S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,0.000848423,0,0.028933,0.955187
7687,P15056,E,G,501,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,5152,43409,ENSG00000157764,ENST00000288602,CCDS5863.1,BRAF,0.65,probably_damaging,0.999,deleterious,0,4.45316,23.7,P15056_E501G,E,G,501,EG,E501G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.404,-3.04,1.636,0.064,H,A,0.75,0.49,,,,0.000545888,0,0.0186159,0.74365
7881,Q9P2D1,R,S,2319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,865,895,ENSG00000171316,ENST00000307121,,CHD7,0.77,possibly_damaging,0.455,deleterious,0,4.00521,20.5,Q9P2D1_R2319S,R,S,2319,RS,R2319S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.398,-3.121,1.723,,,,,,,,,,,,0.820237
7972,Q9UHF7,C,X,342,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.04,,,,,,,,,15145,89726,ENSG00000104447,ENST00000520276,,TRPS1,0.27,,,,,6.83495,38,Q9UHF7_C342X,C,X,342,CX,C342X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
8001,Q92597,R,X,148,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.04,,,,,,,,,1073,6,ENSG00000104419,ENST00000414097,CCDS34945.1,NDRG1,0.38,,,,,10.6991,44,Q92597_R148X,R,X,148,RX,R148X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8108,Q16595,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.39,0.01,,,,,,,,,18529,7861,ENSG00000165060,ENST00000484259,,FXN,,,,,,3.29731,17.08,Q16595_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8109,Q16595,G,V,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,0,0,0,,,,,,18535,7855,ENSG00000165060,ENST00000484259,,FXN,0.26,probably_damaging,0.991,deleterious,0,4.1981,21.8,Q16595_G28V,G,V,28,GV,G28V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00372168,0.00549451,0.126917,0.945923
8132,Q9BX84,S,L,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,47202,13389,ENSG00000119121,ENST00000449912,CCDS55319.1,TRPM6,0.07,probably_damaging,0.991,deleterious,0,5.36487,34,Q9BX84_S136L,S,L,136,SL,S136L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,,,,0.932753
8236,O00206,T,I,399,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,0.047,0.017,0.063,0.03,,0.05,,0.06,8935,1629,ENSG00000136869,ENST00000355622,CCDS6818.1,TLR4,0.48,benign,0.119,deleterious,0.04,0.479496,6.602,O00206_T399I,T,I,399,TI,T399I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-2.128,-3.077,0.949,0.468,S,a,0.7,-0.55,18.609,18.609,73.18,0.00175849,0,0.0599683,0.88675
8239,P01031,Q,X,19,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,0.001,0.002,0,0.001,,,0.002,,85,97854,ENSG00000106804,ENST00000223642,CCDS6826.1,C5,0.01,,,,,6.05302,37,P01031_Q19X,Q,X,19,QX,Q19X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00059682,0,0.0203528,0.98231
8312,Q7Z333,L,S,389,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,24554,68992,ENSG00000107290,ENST00000372169,,SETX,0.14,probably_damaging,0.999,deleterious,0,3.89369,19.79,Q7Z333_L389S,L,S,389,LS,L389S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-0.941,-3.486,2.545,,,,,,,,,,,,0.732222
8361,P51690,R,P,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,13,410,ENSG00000157399,ENST00000545496,,ARSE,0.22,benign,0.061,tolerated,0.06,0.121672,4.654,P51690_R136P,R,P,136,RP,R136P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00212445,0,0.072448,0.945389
8382,P53701,E,K,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,7209,455,ENSG00000004961,ENST00000380763,CCDS14139.1,HCCS,0.59,possibly_damaging,0.632,deleterious,0,5.27419,33,P53701_E159K,E,K,159,EK,E159K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.289,-2.956,1.667,,,,,,2.79,,61.19,0.00212852,0,0.0725871,0.944441
8432,P51812,S,A,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,30939,91,ENSG00000177189,ENST00000379548,,RPS6KA3,0.28,probably_damaging,0.996,deleterious,0,4.72169,26.3,P51812_S198A,S,A,198,SA,S198A,Polar,Hydrophobic,5.68,6,0.32,105,89,-16,89,88.6,-0.4,99,,,,,,,,,,,,0.000335934,0,0.0114561,0.986664
8445,P78562,L,P,555,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,115217,35171,ENSG00000102174,ENST00000379374,CCDS14204.1,PHEX,0.74,probably_damaging,0.999,deleterious,0,4.10987,21.2,P78562_L555P,L,P,555,LP,L555P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.000630319,0,0.0214952,0.807506
8478,P32189,D,V,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,103,471,ENSG00000198814,ENST00000378946,CCDS14225.1,GK,0.84,probably_damaging,0.999,deleterious,0,4.58517,24.9,P32189_D446V,D,V,446,DV,D446V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.139,-3.489,2.35,0.073,H,A,1.19,-0.16,,,,0.00055053,0,0.0187742,0.604622
8483,P11532,C,Y,3340,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,,,,,,,,,2491,1998,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.91,probably_damaging,0.996,deleterious,0,4.46025,23.8,P11532_C3340Y,C,Y,3340,CY,C3340Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.293,-3.939,2.646,,,,,,,,,,,,0.755141
8513,P11532,E,X,250,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0,,,,,,,,,117359,125584,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.07,,,,,7.86648,39,P11532_E250X,E,X,250,EX,E250X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8514,P11532,Y,N,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,117302,125641,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.06,probably_damaging,1,deleterious,0,4.2708,22.3,P11532_Y231N,Y,N,231,YN,Y231N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,-1.181,-3.675,2.494,0.006,H,A,0.82,-1.1,,,,,,,0.534441
8601,P00480,R,G,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,17248,33815,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.26,possibly_damaging,0.832,deleterious,0,3.9268,19.98,P00480_R92G,R,G,92,RG,R92G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-0.821,-2.724,1.903,0.256,H,A,0.91,-0.72,22.036,22.036,81.07,0.000804572,0,0.0274375,0.853515
8602,P00480,R,X,92,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.01,,,,,,,,,17248,33815,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.26,,,,,6.62181,37,P00480_R92X,R,X,92,RX,R92X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000804572,0,0.0274375,0.977351
8606,P00480,T,A,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,17251,33812,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.26,probably_damaging,0.92,deleterious,0,4.3567,23,P00480_T93A,T,A,93,TA,T93A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-0.72,-2.987,2.267,0.014,H,A,0.22,-0.74,8.858,,81.07,0.000653291,0,0.0222786,0.728706
8622,P00480,T,M,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.04,0,0,0,0,,,,,28812,22251,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.35,benign,0.065,tolerated,0.15,1.04874,9.283,P00480_T125M,T,M,125,TM,T125M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.861,-3.659,0.798,0.331,H,A,0.77,0.53,14.962,14.962,92.66,0.00557829,0,0.190231,0.923159
8639,P00480,L,S,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,60,2364,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.39,probably_damaging,1,deleterious,0,4.41402,23.4,P00480_L139S,L,S,139,LS,L139S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.848,-3.265,1.417,,E,B,0.82,-0.57,9.505,9.505,57.63,0.00382313,0,0.130377,0.648254
8643,P00480,R,P,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,54,2358,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.4,probably_damaging,1,deleterious,0,4.32995,22.7,P00480_R141P,R,P,141,RP,R141P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-0.821,-4.053,3.232,0.06,E,B,0.68,-0.65,1.091,,59.89,0.000683042,0,0.0232931,0.524491
8644,P00480,V,E,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,51,2355,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.4,probably_damaging,1,deleterious,0,4.66396,25.7,P00480_V142E,V,E,142,VE,V142E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.441,-3.883,2.442,0.025,.,B,1.48,-0.33,2.71,,59.89,0.00382969,0,0.1306,0.546082
8682,P00480,Y,C,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,52,2253,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.5,probably_damaging,0.993,deleterious,0,3.52741,18.01,P00480_Y176C,Y,C,176,YC,Y176C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-2.057,-5.137,3.08,0.017,H,A,0.25,-0.86,1.102,,39.83,0.00554249,0,0.18901,0.562455
8749,P00480,T,I,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,7520,3007,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.68,probably_damaging,0.993,deleterious,0.03,4.46666,23.9,P00480_T242I,T,I,242,TI,T242I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-2.066,-4.058,1.992,0.144,.,B,0.7,0.02,7.236,,59.89,0.00477,0,0.162667,0.64608
8819,P00480,P,T,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,68511,395,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.98,possibly_damaging,0.882,deleterious,0.02,4.44243,23.7,P00480_P347T,P,T,347,PT,P347T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.254,-3.484,2.23,0.143,.,b,0.3,0.24,2.675,,53.39,0.0343468,0.142857,1.1713,0.662496
8820,P00480,Q,X,348,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0,,,,,,,,,68514,392,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.98,,,,,5.383,34,P00480_Q348X,Q,X,348,QX,Q348X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0399602,0,1.36272,0.93981
9121,Q9Y462,R,X,525,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.01,,,,,,,,,15384,807,ENSG00000147180,ENST00000276123,CCDS35344.1,ZNF711,0.69,,,,,8.61278,41,Q9Y462_R525X,R,X,525,RX,R525X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9230,P05543,D,N,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,0.038,0.105,0.001,0.03,,0.004,0.11,,907,3282,ENSG00000123561,ENST00000327674,CCDS14518.1,SERPINA7,0.46,benign,0.007,tolerated,0.06,0.361657,5.963,P05543_D191N,D,N,191,DN,D191N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.278,-2.133,0.855,0.579,.,B,0.14,4.19,25.643,25.643,80.96,0.00478168,0,0.163065,0.951509
9254,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.39,0.03,,,,,,,,,131530,126130,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.47201,23.9,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9255,P29400,E,X,130,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,,,,,,,,,131534,126126,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.08,,,,,7.94754,40,P29400_E130X,E,X,130,EX,E130X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,1.64e-05,0,0.000559412,0.98778
9260,P29400,G,R,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,133746,123914,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.1,,,deleterious,0,2.10084,12.98,P29400_G174R,G,R,174,GR,G174R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,2.44e-05,0,0.000832951,0.793499
9310,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.39,0,,,,,,,,,13016,31762,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,3.95751,20.2,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9472,P13473,W,R,210,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0,,,,,,,,,7207,3073,ENSG00000005893,ENST00000538785,,LAMP2,0.7,probably_damaging,1,deleterious,0.01,4.16974,21.6,P13473_W210R,W,R,210,WR,W210R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,,,,0.936836
9488,O60880,R,L,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,19198,5702,ENSG00000183918,ENST00000360027,CCDS48162.1,SH2D1A,0.44,probably_damaging,0.997,deleterious,0,4.31757,22.6,O60880_R55L,R,L,55,RL,R55L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.398,-3.094,1.696,0.325,E,B,1.75,0.12,,,,0.00281376,0,0.0959551,0.814936
9489,O60880,Q,X,58,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.03,,,,,,,,,19206,5694,ENSG00000183918,ENST00000360027,CCDS48162.1,SH2D1A,0.46,,,,,4.91248,28.3,O60880_Q58X,Q,X,58,QX,Q58X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0101549,0,0.346302,0.921325
9512,Q8IWS0,K,E,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.01,,,,,,,,,40564,1356,ENSG00000156531,ENST00000394292,,PHF6,0.64,probably_damaging,0.977,tolerated,0.87,2.01752,12.7,Q8IWS0_K235E,K,E,235,KE,K235E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.265,-2.725,1.46,,,,,,,,,0.00278275,0,0.0948974,0.899496
9519,P00492,D,G,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,1827,23441,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.24,possibly_damaging,0.818,deleterious,0.01,4.35021,22.9,P00492_D52G,D,G,52,DG,D52G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.431,-2.994,1.563,0.244,H,A,0.46,-0.85,3.143,,88.07,0.00796768,0,0.271714,0.818319
9648,P22304,P,R,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,2411,2790,ENSG00000010404,ENST00000370443,,IDS,0.51,probably_damaging,1,deleterious,0,4.2841,22.4,P22304_P160R,P,R,160,PR,P160R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.966,-3.75,2.784,,,,,,,,,0.00346953,0,0.118318,0.76092
9785,O60832,R,T,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,1002,574,ENSG00000130826,ENST00000437719,,DKC1,0.22,probably_damaging,0.941,deleterious,0,4.282,22.4,O60832_R51T,R,T,51,RT,R51T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,,,,,,,,,,,,0.00213923,0,0.0729521,0.96533
9801,O60832,P,L,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.39,0.03,,,,,,,,,101,2029,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.75,probably_damaging,0.924,deleterious,0,4.4577,23.8,O60832_P384L,P,L,384,PL,P384L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,0.444,.,b,1.07,0.83,,,,0.00174564,0,0.0595301,0.742932
9831,Q05066,Q,X,2,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.39,0.07,,,,,,,,,4,496,ENSG00000184895,ENST00000534739,,SRY,0.01,,,,,1.5766,11.23,Q05066_Q2X,Q,X,2,QX,Q2X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0031218,0.019802,0.10646,0.955443
3,Q9Y3A5,I,T,212,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.04,0.028,0.007,0.039,0.02,,0.04,0.002,0.04,7088,51,ENSG00000126524,ENST00000246868,CCDS5537.1,SBDS,0.85,possibly_damaging,0.699,deleterious,0.03,3.52452,18,Q9Y3A5_I212T,I,T,212,IT,I212T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.391,-3.038,1.647,0.278,E,B,0.7,0,16.722,16.722,73.6,0.0108785,0,0.43022,0.882555
67,Q96SN8,N,I,724,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0,,,,,,,,,25365,16562,ENSG00000136861,ENST00000416449,,CDK5RAP2,0.56,possibly_damaging,0.505,deleterious,0.05,2.40454,14,Q96SN8_N724I,N,I,724,NI,N724I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,,,,,,,,,,,,,,,0.932969
73,Q96SD1,P,R,51,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.04,0.091,0.128,0.072,0.13,0.2,0.13,0.13,0.07,19291,5,ENSG00000152457,ENST00000396817,CCDS31150.1,DCLRE1C,0.09,benign,0.107,tolerated,0.11,2.89636,15.65,Q96SD1_P51R,P,R,51,PR,P51R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,0.00120807,0,0.0477767,0.901077
83,Q96QU1,R,Q,858,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.03,0.211,0.233,0.2,0.3,0.54,0.18,0.24,0.21,805458,1152,ENSG00000150275,ENST00000437009,,PCDH15,0.45,benign,0.065,tolerated,0.57,0.284333,5.539,Q96QU1_R858Q,R,Q,858,RQ,R858Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
135,Q15468,A,V,1145,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.01,,,,0.001,0.01,,,,61570,944,ENSG00000123473,ENST00000337817,CCDS548.1,STIL,0.89,benign,0.005,tolerated,0.42,0.278534,5.507,Q15468_A1145V,A,V,1145,AV,A1145V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-2.183,-3.003,0.82,,,,,,22.425,22.425,36.21,0.00185575,0,0.0733911,0.939975
215,P29400,P,S,324,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.01,,,,,,,,,425,44353,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.19,,,deleterious,0.04,3.53188,18.03,P29400_P324S,P,S,324,PS,P324S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.289,-3.193,1.904,,,,,,0.51,,6.88,0.000207125,0,0.00819134,0.878626
334,P02768,R,C,434,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.01,,,,,,,,,466,74,ENSG00000163631,ENST00000509063,,ALB,0.72,probably_damaging,0.991,deleterious,0,3.55391,18.12,P02768_R434C,R,C,434,RC,R434C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.887,-4.01,2.123,0.321,H,A,1.66,-0.26,23.093,23.093,57.31,0.0034523,0,0.136531,0.67892
347,P01023,I,V,1000,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0,0.32,0.302,0.328,0.27,0.07,0.4,0.29,0.33,727,310,ENSG00000175899,ENST00000318602,CCDS44827.1,A2M,0.68,benign,0.033,tolerated,0.16,0.738315,7.92,P01023_I1000V,I,V,1000,IV,I1000V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.337,-1.818,0.481,,,,,,22.576,22.576,37.18,0.000739338,0,0.0292392,1.00745
374,O75445,E,D,478,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.04,0.012,0.004,0.016,0.01,,,0.01,0.02,99807,149644,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.31,benign,0.202,tolerated,0.29,2.22404,13.39,O75445_E478D,E,D,478,ED,E478D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,,,,,,,,,,,,,,,0.952872
378,O75445,L,F,2886,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.01,0.046,0.062,0.038,0.07,0.12,0.05,0.06,0.04,545614,254889,ENSG00000042781,ENST00000366943,,USH2A,0.55,benign,0,tolerated,1,0.679967,7.636,O75445_L2886F,L,F,2886,LF,L2886F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,,,,0.961576
382,O75445,N,S,3099,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.03,0.044,0.07,0.03,0.04,,0.04,0.08,0.04,585331,215172,ENSG00000042781,ENST00000366943,,USH2A,0.59,benign,0.398,tolerated,0.06,2.42021,14.05,O75445_N3099S,N,S,3099,NS,N3099S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,,,,0.952307
388,O75445,T,A,3115,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.03,0.03,0.012,0.04,0.06,0.14,0.04,0.01,0.04,585378,215125,ENSG00000042781,ENST00000366943,,USH2A,0.6,benign,0.004,tolerated,0.54,-0.499351,1.71,O75445_T3115A,T,A,3115,TA,T3115A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,,,,0.950942
396,O43525,E,G,294,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.4,0.03,0.016,0.003,0.022,0.06,0.18,0.02,0.01,0.03,283774,34344,ENSG00000184156,ENST00000521134,CCDS56554.1,KCNQ3,0.39,benign,0.011,deleterious,0.04,2.55417,14.5,O43525_E294G,E,G,294,EG,E294G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.92,-2.571,0.651,,,,,,47.361,47.361,92.89,0.00109901,0,0.0434635,0.966174
130,P35914,R,Q,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,4821,10345,ENSG00000117305,ENST00000374483,,HMGCL,0.05,probably_damaging,0.993,deleterious,0,5.27557,33,P35914_R16Q,R,Q,16,RQ,R16Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00201725,0.00323625,0.0687924,0.976146
150,P54577,E,K,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,447,7115,ENSG00000134684,ENST00000373477,CCDS368.1,YARS,0.37,possibly_damaging,0.615,tolerated,0.2,5.09629,31,P54577_E196K,E,K,196,EK,E196K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,0.23,H,A,1.3,-0.53,,,,0.00175486,0,0.0598445,0.773114
224,Q9NR50,R,Q,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,44934,7195,ENSG00000070785,ENST00000360403,CCDS517.1,EIF2B3,0.5,benign,0.377,deleterious,0.01,4.84824,27.6,Q9NR50_R225Q,R,Q,225,RQ,R225Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.00206704,0,0.0704904,0.874592
286,P32929,T,I,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,0.008,0.002,0.011,0.003,,,,0.01,4604,14408,ENSG00000116761,ENST00000411986,CCDS53333.1,CTH,0.18,possibly_damaging,0.897,deleterious,0,5.20331,33,P32929_T67I,T,I,67,TI,T67I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.149,-3.337,2.188,0.022,H,A,0.7,-1.02,,,,0.00263225,0,0.0897651,0.605294
329,P11182,H,R,452,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,53486,2169,ENSG00000137992,ENST00000370132,CCDS767.1,DBT,0.94,probably_damaging,1,deleterious,0,4.76379,26.7,P11182_H452R,H,R,452,HR,H452R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.311,-3.26,1.949,0.494,T,A,1.03,-0.58,,,,0.00253225,0,0.0863551,0.787826
573,Q6PI48,E,X,425,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,38,1611,ENSG00000117593,ENST00000361951,CCDS1311.1,DARS2,0.66,,,,,9.6264,42,Q6PI48_E425X,E,X,425,EX,E425X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00355952,0,0.121387,0.953272
592,P01008,R,Q,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,0,0,0,,,,,,2725,40,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.35,probably_damaging,0.956,tolerated,0.14,5.25384,33,P01008_R161Q,R,Q,161,RQ,R161Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,0.355,H,A,0.56,0.2,,,,0.00321522,0,0.109645,0.765583
593,P01008,R,X,161,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,2724,39,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.35,,,,,5.35795,34,P01008_R161X,R,X,161,RX,R161X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00321522,0,0.109645,0.951177
594,P01008,S,P,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,2685,1,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.32,probably_damaging,0.997,deleterious,0.02,4.94433,28.7,P01008_S148P,S,P,148,SP,S148P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.146,-3.472,2.326,0.032,H,A,0.25,-0.09,,,,0.0033618,0,0.114644,0.6874
765,Q99698,V,D,1999,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,100717,6945,ENSG00000143669,ENST00000389793,CCDS31062.1,LYST,0.53,probably_damaging,0.978,deleterious,0,4.35729,23,Q99698_V1999D,V,D,1999,VD,V1999D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.269,-3.659,2.39,,,,,,1.964,,57.75,,,,0.771615
772,Q99698,R,X,514,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.05,,,,,,,,,57643,17705,ENSG00000143669,ENST00000536965,,LYST,0.37,,,,,8.30641,40,Q99698_R514X,R,X,514,RX,R514X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
795,P07954,R,L,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,11119,11040,ENSG00000091483,ENST00000366560,CCDS1617.1,FH,0.46,probably_damaging,1,deleterious,0,5.15427,32,P07954_R233L,R,L,233,RL,R233L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.398,-3.094,1.696,0.004,E,B,1.75,-0.83,,,,0.000344673,0,0.0117541,0.630242
796,P07954,R,H,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,11119,11040,ENSG00000091483,ENST00000366560,CCDS1617.1,FH,0.46,probably_damaging,1,deleterious,0,5.19272,32,P07954_R233H,R,H,233,RH,R233H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.004,E,B,1.03,-0.83,,,,0.000344673,0,0.0117541,0.592652
797,P07954,N,T,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,16,20,ENSG00000091483,ENST00000366560,CCDS1617.1,FH,0.21,possibly_damaging,0.866,deleterious,0,4.97018,29,P07954_N107T,N,T,107,NT,N107T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,-1.427,-3.077,1.65,,G,A,0.39,0.28,2.392,,67.65,0.000754862,0,0.0257423,0.835321
851,Q03468,P,R,465,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,0.014,0.04,0,0.01,,0.01,0.03,,395,2228,ENSG00000225830,ENST00000542458,,ERCC6,0.54,benign,0.001,tolerated,0.17,1.23583,10.02,Q03468_P465R,P,R,465,PR,P465R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,,,,0.946563
873,Q96QU1,R,X,3,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,136933,285433,ENSG00000150275,ENST00000437009,,PCDH15,0,,,,,7.51994,39,Q96QU1_R3X,R,X,3,RX,R3X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
976,P60484,L,P,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,7571,394,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.28,probably_damaging,1,deleterious,0,4.47306,23.9,P60484_L112P,L,P,112,LP,L112P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,,,,,,,,,0.00224491,0,0.0765559,0.788424
980,P60484,R,Q,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,7625,340,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.32,probably_damaging,1,deleterious,0,5.63723,36,P60484_R130Q,R,Q,130,RQ,R130Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,,,,,,,,,0.000662631,0,0.0225971,0.92011
981,P60484,G,V,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,7631,334,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.33,probably_damaging,1,deleterious,0,4.82756,27.4,P60484_G132V,G,V,132,GV,G132V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.319,-3.326,2.007,,,,,,5.088,,92.31,0.000473071,0,0.0161327,0.891901
987,P60484,E,X,256,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,5785,3326,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.64,,,,,15.4413,49,P60484_E256X,E,X,256,EX,E256X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00158913,0,0.0541925,0.902682
1004,P51160,M,V,455,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,23002,30421,ENSG00000095464,ENST00000371447,CCDS7429.1,PDE6C,0.53,possibly_damaging,0.656,tolerated,0.42,2.95087,15.84,P51160_M455V,M,V,455,MV,M455V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.541,-2.631,1.09,,,,,,,,,0.000886877,0,0.0302443,0.934064
1107,P04181,Y,X,161,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0,,,,,,,,,407,916,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.53,,,,,6.12636,37,P04181_Y161X,Y,X,161,YX,Y161X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000749477,0,0.0255587,0.970188
1109,P04181,A,P,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,318,827,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.44,probably_damaging,0.992,deleterious,0,4.33618,22.8,P04181_A132P,A,P,132,AP,A132P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00325404,0,0.110969,0.976925
1120,P04181,Y,H,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,2428,3116,ENSG00000065154,ENST00000368845,CCDS7639.1,OAT,0.13,probably_damaging,0.997,deleterious,0,3.52644,18,P04181_Y55H,Y,H,55,YH,Y55H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.282,-3.516,2.234,0.95,.,B,0.38,-0.21,,,,0.000964732,0,0.0328994,0.787158
1121,P04181,N,K,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,0,0,0,,,,,,2427,3117,ENSG00000065154,ENST00000368845,CCDS7639.1,OAT,0.12,probably_damaging,0.937,deleterious,0,2.35666,13.84,P04181_N54K,N,K,54,NK,N54K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.26,-2.967,1.707,0.719,.,A,1.73,-0.67,,,,0.00143168,0,0.0488233,0.817196
1308,Q9Y345,L,V,306,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,7989,47308,ENSG00000165970,ENST00000525748,CCDS7854.1,SLC6A5,0.38,probably_damaging,0.926,deleterious,0.04,3.2859,17.03,Q9Y345_L306V,L,V,306,LV,L306V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.117,-2.631,1.514,,,,,,,,,0.000784075,0,0.0267386,0.922656
1314,Q75V66,G,V,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,0.001,0,0.001,0.001,,0.003,,,43030,47152,ENSG00000171714,ENST00000324559,CCDS31444.1,ANO5,0.25,probably_damaging,0.966,deleterious,0.01,3.97226,20.3,Q75V66_G231V,G,V,231,GV,G231V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.317,-3.59,2.273,,,,,,1.764,,56.41,0.000574647,0,0.0195966,0.843044
1672,P53634,R,X,167,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,28565,109,ENSG00000109861,ENST00000527018,,CTSC,0.68,,,,,1.90946,12.34,P53634_R167X,R,X,167,RX,R167X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00326409,0.00675676,0.111312,0.951177
1681,P14679,W,X,178,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,593,22126,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.34,,,,,10.089,43,P14679_W178X,W,X,178,WX,W178X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000358481,0,0.012225,0.956807
1718,Q8NCM8,T,A,1987,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,68065,301613,ENSG00000187240,ENST00000398093,CCDS44717.1,DYNC2H1,0.46,probably_damaging,0.982,deleterious,0.01,4.50532,24.2,Q8NCM8_T1987A,T,A,1987,TA,T1987A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.149,-2.63,1.481,,,,,,,,,,,,0.86051
1736,Q13315,R,X,2443,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.05,,,,,,,,,2589,926,ENSG00000149311,ENST00000452508,CCDS31669.1,ATM,0.8,,,,,14.7934,48,Q13315_R2443X,R,X,2443,RX,R2443X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1845,O75845,R,Q,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,925,1465,ENSG00000109929,ENST00000527762,,SC5DL,0.16,probably_damaging,0.999,deleterious,0.01,5.85241,36,O75845_R29Q,R,Q,29,RQ,R29Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,,,,0.81111
1968,P54840,A,P,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,41883,26776,ENSG00000111713,ENST00000261195,CCDS8690.1,GYS2,0.48,probably_damaging,0.999,deleterious,0.01,4.51764,24.3,P54840_A339P,A,P,339,AP,A339P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.337,-3.466,2.129,,,,,,1.19,,44.81,0.00104895,0,0.0357714,0.869181
1973,P07195,K,E,7,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,83,5,ENSG00000111716,ENST00000396076,CCDS8691.1,LDHB,0.02,benign,0.337,tolerated,0.24,1.46309,10.84,P07195_K7E,K,E,7,KE,K7E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.415,-1.878,0.463,0.68,H,A,1.3,1.14,23.391,23.391,78.74,0.00392105,0,0.133716,0.943087
2001,Q5S007,Y,C,1699,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,22648,48168,ENSG00000188906,ENST00000298910,CCDS31774.1,LRRK2,0.67,probably_damaging,0.997,deleterious,0,4.34202,22.8,Q5S007_Y1699C,Y,C,1699,YC,Y1699C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,,,,,,,,,,,,0.720434
2184,O60938,Q,X,174,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0,,,,,,,,,2222,5271,ENSG00000139330,ENST00000266719,CCDS9037.1,KERA,0.49,,,,,6.67875,38,O60938_Q174X,Q,X,174,QX,Q174X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00331665,0,0.113105,0.955443
2234,P00439,E,G,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,18021,57,ENSG00000171759,ENST00000551337,,PAH,0.56,benign,0.009,tolerated,0.54,2.26405,13.53,P00439_E76G,E,G,76,EG,E76G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.521,-3.224,1.703,0.246,E,B,0.75,0.09,3.603,,82.52,0.00296365,0,0.101066,0.865412
2236,P00439,L,S,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,0,0,0,,,,,,65,18013,ENSG00000171759,ENST00000551337,,PAH,0.35,probably_damaging,0.999,deleterious,0,3.83908,19.5,P00439_L48S,L,S,48,LS,L48S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.208,-3.346,2.138,0.438,H,A,0.82,0.44,,,,0.00106251,0,0.036234,0.809359
2367,Q9NZJ4,W,R,1196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,17444,9207,ENSG00000151835,ENST00000402364,,SACS,0.31,probably_damaging,0.997,deleterious,0,2.52168,14.39,Q9NZJ4_W1196R,W,R,1196,WR,W1196R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,,,,0.936836
2404,P06400,R,W,661,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,155933,22279,ENSG00000139687,ENST00000267163,CCDS31973.1,RB1,0.71,probably_damaging,1,deleterious,0,4.28085,22.4,P06400_R661W,R,W,661,RW,R661W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,0.026,H,A,1.67,-0.07,,,,0.000496835,0,0.0169431,0.619738
2406,P06400,R,X,787,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,161463,16749,ENSG00000139687,ENST00000267163,CCDS31973.1,RB1,0.85,,,,,7.63071,39,P06400_R787X,R,X,787,RX,R787X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00223827,0,0.0763296,0.959768
2421,Q5TBB1,A,T,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,0.002,0,0.003,,,,,,15331,70,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.57,probably_damaging,0.917,tolerated,0.23,2.68544,14.94,Q5TBB1_A177T,A,T,177,AT,A177T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.242,-3.036,1.794,0.019,H,A,0.22,0.38,3.184,,63.78,0.00422887,0,0.144213,0.826738
2448,O75503,R,H,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,2961,1208,ENSG00000102805,ENST00000377453,CCDS9456.1,CLN5,0.28,probably_damaging,0.997,deleterious,0,4.9632,28.9,O75503_R112H,R,H,112,RH,R112H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
2449,O75503,D,N,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,9920,982,ENSG00000102805,ENST00000377453,CCDS9456.1,CLN5,0.69,possibly_damaging,0.84,deleterious,0.05,5.1539,32,O75503_D279N,D,N,279,DN,D279N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
2451,P24530,R,X,253,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,15611,7711,ENSG00000136160,ENST00000446573,CCDS45059.1,EDNRB,0.58,,,,,5.06346,31,P24530_R253X,R,X,253,RX,R253X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00256994,0,0.0876401,0.959768
2459,P28715,Q,X,136,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,8201,380,ENSG00000134899,ENST00000535557,,ERCC5,0.59,,,,,3.954,20.2,P28715_Q136X,Q,X,136,QX,Q136X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000474406,0,0.0161782,0.98231
2503,Q96KN7,A,S,547,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,0.233,0.205,0.245,0.16,,0.15,0.23,0.24,37,591,ENSG00000092200,ENST00000400017,CCDS45080.1,RPGRIP1,0.43,probably_damaging,0.998,deleterious,0.05,2.34414,13.8,Q96KN7_A547S,A,S,547,AS,A547S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.46,-2.31,0.85,,,,,,6.471,2.924,70.06,0.000504831,0,0.0172158,1.04015
2606,Q8WXF7,T,I,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,595,234,ENSG00000198513,ENST00000354525,CCDS32077.1,ATL1,0.28,possibly_damaging,0.857,deleterious,0.03,5.01111,29.5,Q8WXF7_T156I,T,I,156,TI,T156I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.289,-3.159,1.87,0.353,H,A,0.7,3.28,10.063,9.002,77.06,0.0015167,0,0.0517226,0.930636
2607,Q8WXF7,R,Q,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,53147,9,ENSG00000198513,ENST00000354525,CCDS32077.1,ATL1,0.39,probably_damaging,1,deleterious,0,4.95203,28.8,Q8WXF7_R217Q,R,Q,217,RQ,R217Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.88,-3.687,2.807,0.034,E,A,0.56,-1.16,2.157,,55.38,0.000802714,0,0.0273742,0.535594
2609,P06737,Y,H,821,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,11893,254,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.97,probably_damaging,0.999,deleterious,0,4.82106,27.3,P06737_Y821H,Y,H,821,YH,Y821H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.282,-3.516,2.234,,H,A,0.38,-1.42,,,,0.00142823,0,0.0487057,0.602714
2635,P30793,I,K,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,37071,22380,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.63,probably_damaging,0.999,deleterious,0,4.817,27.3,P30793_I135K,I,K,135,IK,I135K,Hydrophobic,PositiveCharge,6.02,9.74,3.72,131,146,15,166.7,168.6,1.9,102,-1.313,-3.684,2.371,0.023,E,B,2.82,-0.82,,,,0.00239429,0,0.0816503,0.46724
2636,P30793,D,V,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,37068,22383,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.63,probably_damaging,0.977,deleterious,0,4.53121,24.4,P30793_D134V,D,V,134,DV,D134V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.057,-3.531,2.474,0.213,E,l,1.19,-0.46,,,,0.00315994,0,0.107761,0.585847
2716,P16473,I,N,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,136908,16356,ENSG00000165409,ENST00000554435,CCDS55935.1,TSHR,0.61,probably_damaging,0.992,deleterious,0,3.71485,18.87,P16473_I167N,I,N,167,IN,I167N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.084,-4.374,3.29,,E,B,1.09,-0.36,1.488,,90.31,0.00116791,0,0.039828,0.632766
2796,Q7Z699,R,X,262,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,98787,6137,ENSG00000166068,ENST00000299084,CCDS32193.1,SPRED1,0.59,,,,,10.2216,43,Q7Z699_R262X,R,X,262,RX,R262X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2830,Q71RS6,T,A,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,0.264,0.771,0.005,0.52,0.99,0.33,0.92,0.004,12311,2916,ENSG00000188467,ENST00000341459,CCDS10128.1,SLC24A5,0.22,benign,0,tolerated,1,1.03774,9.239,Q71RS6_T111A,T,A,111,TA,T111A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-2.973,-1.088,-1.885,,,,,,26.881,26.881,92.8,0.000639311,0,0.0218018,1.02674
2842,P35555,C,R,1265,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,161847,53099,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.44,probably_damaging,0.992,deleterious,0,4.69269,26,P35555_C1265R,C,R,1265,CR,C1265R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,,,,0.754167
2866,P11511,R,C,375,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,2765,68,ENSG00000137869,ENST00000559878,CCDS10139.1,CYP19A1,0.75,probably_damaging,1,deleterious,0,4.40341,23.3,P11511_R375C,R,C,375,RC,R375C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.009,E,B,1.66,-0.97,,,,0.00219167,0,0.0747405,0.460653
2867,P11511,R,Q,365,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,2736,39,ENSG00000137869,ENST00000559878,CCDS10139.1,CYP19A1,0.73,probably_damaging,1,deleterious,0,5.77459,36,P11511_R365Q,R,Q,365,RQ,R365Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,H,A,0.56,-0.9,,,,0.000732139,0,0.0249675,0.64297
2869,P51159,A,P,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,25134,15,ENSG00000069974,ENST00000569493,CCDS10153.1,RAB27A,0.69,probably_damaging,0.997,deleterious,0,4.3989,23.3,P51159_A152P,A,P,152,AP,A152P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.175,-3.39,2.215,0.039,H,A,0.52,1.51,,,,0.00298939,0,0.101944,0.710094
2870,P51159,L,P,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,25069,19,ENSG00000069974,ENST00000569493,CCDS10153.1,RAB27A,0.59,probably_damaging,0.999,deleterious,0,4.08021,21,P51159_L130P,L,P,130,LP,L130P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,E,B,1.07,-0.54,,,,0.00270375,0,0.0922035,0.540312
2872,P51159,A,P,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,0,0,0,,,,,,20343,27,ENSG00000069974,ENST00000569493,CCDS10153.1,RAB27A,0.39,probably_damaging,0.996,deleterious,0,5.01201,29.5,P51159_A87P,A,P,87,AP,A87P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.175,-3.39,2.215,,H,A,0.52,-0.62,,,,0.00235333,0,0.0802534,0.62759
2945,P13804,V,G,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,29,57,ENSG00000140374,ENST00000559602,,ETFA,0.23,probably_damaging,0.96,deleterious,0,4.57356,24.8,P13804_V53G,V,G,53,VG,V53G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,,,,,,,,,,,,0.00469304,0,0.160042,0.926036
3003,Q02078,G,D,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,0,0,0,,,,,,124325,22913,ENSG00000068305,ENST00000449277,,MEF2A,0.5,probably_damaging,1,deleterious,0,4.96523,29,Q02078_G213D,G,D,213,GD,G213D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00226545,0,0.0772566,0.961241
3317,Q68CZ1,K,X,233,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,0,0,0,0.001,,0.003,,,17333,14961,ENSG00000103494,ENST00000562230,,RPGRIP1L,0.66,,,,,5.56318,35,Q68CZ1_K233X,K,X,233,KX,K233X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000537272,0,0.0183221,0.98231
3318,Q68CZ1,A,T,229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,0.056,0.101,0.033,0.04,,0.02,0.12,0.02,17321,14973,ENSG00000103494,ENST00000562230,,RPGRIP1L,0.65,benign,0.005,tolerated,0.4,1.61924,11.37,Q68CZ1_A229T,A,T,229,AT,A229T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.67,-2.124,0.454,,,,,,20.122,20.122,81.83,0.000464126,0,0.0158276,1.01833
3383,Q9HAY6,T,M,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,0.002,0.001,0.003,0.001,,,,0.003,25988,26024,ENSG00000135697,ENST00000425577,,BCMO1,0.21,probably_damaging,0.992,deleterious,0,4.16436,21.5,Q9HAY6_T101M,T,M,101,TM,T101M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,,,,0.953797
3429,O15360,W,X,171,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,5263,144,ENSG00000187741,ENST00000389301,CCDS32515.1,FANCA,0.12,,,,,2.9127,15.71,O15360_W171X,W,X,171,WX,W171X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000286875,0,0.00978302,0.956807
3453,P45381,C,X,218,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,18367,4720,ENSG00000108381,ENST00000263080,CCDS11028.1,ASPA,0.7,,,,,5.98232,37,P45381_C218X,C,X,218,CX,C218X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00491452,0,0.167595,0.938506
3544,P11055,R,H,672,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,14834,12790,ENSG00000109063,ENST00000583535,CCDS11157.1,MYH3,0.35,probably_damaging,1,deleterious,0,5.62771,36,P11055_R672H,R,H,672,RH,R672H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.013,E,B,1.03,0,,,,2.85e-05,0,0.000973196,0.650884
3545,P11055,R,C,672,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,14833,12791,ENSG00000109063,ENST00000583535,CCDS11157.1,MYH3,0.35,probably_damaging,1,deleterious,0,4.50946,24.2,P11055_R672C,R,C,672,RC,R672C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.013,E,B,1.66,0,,,,2.85e-05,0,0.000973196,0.557251
3596,P21359,R,X,1362,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,16063,5200,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.48,,,,,12.8894,46,P21359_R1362X,R,X,1362,RX,R1362X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3627,Q99456,V,L,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,451,5457,ENSG00000187242,ENST00000251643,CCDS11378.1,KRT12,0.29,probably_damaging,1,deleterious,0,5.28941,33,Q99456_V143L,V,L,143,VL,V143L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.004,-2.558,1.554,,,,,,,,,0.000302758,0,0.0103247,0.919733
4006,Q9Y4W6,E,K,691,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,39808,8501,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.87,probably_damaging,0.927,deleterious,0,5.5264,35,Q9Y4W6_E691K,E,K,691,EK,E691K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,0.422,H,a,1.3,0.28,,,,0.00226041,0,0.0770845,0.859633
4007,Q9Y4W6,G,E,671,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,39749,8560,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.84,probably_damaging,0.994,deleterious,0,4.97985,29.1,Q9Y4W6_G671E,G,E,671,GE,G671E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,,.,b,0.75,-1.12,,,,0.00159605,0,0.0544287,0.543762
4008,Q9Y4W6,G,R,671,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,39748,8561,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.84,probably_damaging,0.996,deleterious,0.01,5.01939,29.6,Q9Y4W6_G671R,G,R,671,GR,G671R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,.,b,0.91,-1.12,,,,0.00159605,0,0.0544287,0.51649
4022,O15118,L,F,1213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,26873,1524,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.95,probably_damaging,1,deleterious,0,3.74845,19.03,O15118_L1213F,L,F,1213,LF,L1213F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-0.614,-3.856,3.242,,,,,,1.643,,28.72,0.00140683,0,0.0479759,0.827172
4050,Q14126,E,K,331,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,26822,24144,ENSG00000046604,ENST00000261590,CCDS42423.1,DSG2,0.3,probably_damaging,0.991,deleterious,0,4.36009,23,Q14126_E331K,E,K,331,EK,E331K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.136,-2.857,1.721,,,,,,5.099,,42.22,0.000336363,0,0.0114707,0.935282
4097,Q7RTS9,C,R,542,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,2565,7614,ENSG00000141627,ENST00000269445,CCDS11937.1,DYM,0.81,probably_damaging,0.995,deleterious,0,4.36368,23,Q7RTS9_C542R,C,R,542,CR,C542R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,0.00326224,0,0.111249,0.765587
4101,Q7RTS9,Y,X,16,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.07,,,,,,,,,30281,12408,ENSG00000141627,ENST00000583353,,DYM,0.15,,,,,3.5279,18.01,Q7RTS9_Y16X,Y,X,16,YX,Y16X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00121053,0,0.0412816,0.89573
4550,P04114,Q,X,1477,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,31635,11010,ENSG00000084674,ENST00000233242,CCDS1703.1,APOB,0.32,,,,,9.36642,42,P04114_Q1477X,Q,X,1477,QX,Q1477X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
4559,P55084,R,H,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,0,0,0,,,,,,2914,6546,ENSG00000138029,ENST00000405867,,HADHB,0.17,probably_damaging,1,deleterious,0,4.83303,27.5,P55084_R61H,R,H,61,RH,R61H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.582,-3.912,2.33,,,,,,,,,0.00103753,0,0.0353817,0.762728
4596,Q9UI10,P,L,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,0,0,0,,,,,,928,178,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.46,probably_damaging,0.996,deleterious,0,3.27411,16.99,Q9UI10_P242L,P,L,242,PL,P242L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00394688,0,0.134597,0.957943
4618,Q9UBP0,I,K,344,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,52438,41492,ENSG00000021574,ENST00000315285,CCDS1778.1,SPAST,0.56,probably_damaging,0.997,deleterious,0,4.62307,25.3,Q9UBP0_I344K,I,K,344,IK,I344K,Hydrophobic,PositiveCharge,6.02,9.74,3.72,131,146,15,166.7,168.6,1.9,102,-1.497,-3.637,2.14,0.083,S,b,2.82,-0.14,2.465,,92.86,0.00168578,0,0.0574886,0.651465
4680,P22888,A,P,566,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,18223,351,ENSG00000138039,ENST00000405626,,LHCGR,0.84,probably_damaging,1,deleterious,0.01,4.32207,22.7,P22888_A566P,A,P,566,AP,A566P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00164491,0,0.0560948,0.925827
4681,P22888,D,G,551,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,18267,395,ENSG00000138039,ENST00000405626,,LHCGR,0.82,possibly_damaging,0.68,deleterious,0,3.90773,19.87,P22888_D551G,D,G,551,DG,D551G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00167158,0,0.0570042,0.906372
4682,P22888,T,I,550,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,18270,398,ENSG00000138039,ENST00000405626,,LHCGR,0.82,probably_damaging,0.999,deleterious,0,4.10933,21.2,P22888_T550I,T,I,550,TI,T550I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.000971282,0,0.0331227,0.921072
4695,P22888,L,P,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,18897,1025,ENSG00000138039,ENST00000405626,,LHCGR,0.51,probably_damaging,0.946,deleterious,0,3.66277,18.62,P22888_L341P,L,P,341,LP,L341P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00157493,0,0.0537083,0.905673
4710,Q12805,R,W,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,52131,4231,ENSG00000115380,ENST00000355426,CCDS1857.1,EFEMP1,0.7,benign,0.254,deleterious,0.02,2.95259,15.84,Q12805_R345W,R,W,345,RW,R345W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.893,-5.112,3.219,,,,,,0.334,,60.85,0.00171239,0,0.058396,0.825091
4807,P19447,Q,X,481,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,14825,21973,ENSG00000163161,ENST00000493187,,ERCC3,0.67,,,,,9.56313,42,P19447_Q481X,Q,X,481,QX,Q481X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00118985,0,0.0405762,0.912628
4831,Q15042,W,X,578,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,886,1013,ENSG00000115839,ENST00000442034,CCDS54402.1,RAB3GAP1,0.59,,,,,6.54519,37,Q15042_W578X,W,X,578,WX,W578X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
4852,Q04771,R,H,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,32883,36798,ENSG00000115170,ENST00000409283,CCDS2206.1,ACVR1,0.4,probably_damaging,0.997,deleterious,0,5.48046,35,Q04771_R206H,R,H,206,RH,R206H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.295,T,A,1.03,0.08,,,,0.00118543,0,0.0404257,0.767203
4874,P35498,W,R,1204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,59783,22594,ENSG00000144285,ENST00000423058,,SCN1A,0.6,probably_damaging,0.997,deleterious,0,4.50973,24.2,P35498_W1204R,W,R,1204,WR,W1204R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.198,-3.935,2.737,,,,,,,,,2.6e-05,0,0.000887086,0.801622
4893,Q15858,I,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.4,0.04,,,,,,,,,1,3952,ENSG00000169432,ENST00000452182,,SCN9A,0,benign,0.133,deleterious,0,3.82417,19.42,Q15858_I1V,I,V,1,IV,I1V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,,,,0.9611
4895,O95342,R,T,432,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,54733,53652,ENSG00000073734,ENST00000263817,CCDS46444.1,ABCB11,0.33,probably_damaging,0.999,deleterious,0,4.98465,29.2,O95342_R432T,R,T,432,RT,R432T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.281,-3.198,1.917,,,,,,,,,8.37e-05,0,0.00285521,0.895293
4916,P15882,P,Q,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,87,63,ENSG00000128656,ENST00000409156,CCDS46454.1,CHN1,0.52,probably_damaging,0.954,deleterious,0,5.20953,33,P15882_P226Q,P,Q,226,PQ,P226Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,,,,,,,,,,,,0.0031806,0,0.108465,0.967295
4919,P15882,Y,H,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,21,52,ENSG00000128656,ENST00000409156,CCDS46454.1,CHN1,0.33,probably_damaging,0.976,deleterious,0,4.57006,24.8,P15882_Y143H,Y,H,143,YH,Y143H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.437,-3.462,2.025,,,,,,,,,0.000963349,0,0.0328522,0.777492
4925,O00116,T,I,309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,69180,76471,ENSG00000018510,ENST00000264167,CCDS2275.1,AGPS,0.47,benign,0.388,deleterious,0.01,4.37284,23.1,O00116_T309I,T,I,309,TI,T309I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.088,-3.215,2.127,,,,,,23.48,23.48,86.47,0.0022782,0,0.0776914,0.899396
4977,Q13873,C,W,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,2799,7515,ENSG00000204217,ENST00000374574,,BMPR2,0.22,probably_damaging,0.999,deleterious,0,3.37647,17.39,Q13873_C118W,C,W,118,CW,C118W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.412,-4.833,3.421,,,,,,,,,0.000279493,0,0.00953129,0.785735
4985,Q13873,Q,X,433,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,164897,25421,ENSG00000204217,ENST00000374574,,BMPR2,0.82,,,,,6.02323,37,Q13873_Q433X,Q,X,433,QX,Q433X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000374653,0,0.0127764,0.98231
5275,Q9BZ23,T,M,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,29328,73,ENSG00000125779,ENST00000497424,CCDS13072.1,PANK2,0.85,benign,0.263,tolerated,0.21,2.50478,14.34,Q9BZ23_T237M,T,M,237,TM,T237M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00180265,0,0.0614741,0.962901
5286,Q9BQL6,Q,X,6,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,8449,31318,ENSG00000101311,ENST00000536936,,FERMT1,0.01,,,,,10.9591,44,Q9BQL6_Q6X,Q,X,6,QX,Q6X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
5478,P00441,G,S,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,6787,846,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.47,possibly_damaging,0.885,deleterious,0.01,5.83275,36,P00441_G73S,G,S,73,GS,G73S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.985,-2.971,1.986,0.023,.,b,0.02,-0.31,5.963,,70.78,0.00396354,0,0.135165,0.746516
5490,P00441,L,X,127,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,8784,439,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.82,,,,,5.71416,36,P00441_L127X,L,X,127,LX,L127X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.00547204,0,0.186608,0.938654
5491,P00441,S,N,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,8808,415,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.88,probably_damaging,0.999,deleterious,0,5.10436,31,P00441_S135N,S,N,135,SN,S135N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.146,-3.04,1.894,,H,A,0.34,0.18,,,,0.00602358,0,0.205417,0.816753
5939,Q8WTS1,E,K,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,7,932,ENSG00000011198,ENST00000458276,CCDS2711.1,ABHD5,0.74,probably_damaging,0.988,deleterious,0,5.66874,36,Q8WTS1_E260K,E,K,260,EK,E260K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,0.00369087,0,0.125866,0.887644
6050,Q04446,H,R,587,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,42698,579,ENSG00000114480,ENST00000489715,,GBE1,0.89,probably_damaging,0.986,deleterious,0,4.39609,23.3,Q04446_H587R,H,R,587,HR,H587R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00194317,0,0.066266,0.986365
6051,Q04446,E,X,551,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,41004,2273,ENSG00000114480,ENST00000489715,,GBE1,0.83,,,,,6.53962,37,Q04446_E551X,E,X,551,EX,E551X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000843448,0,0.0287633,0.980139
6105,Q15051,R,X,328,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.05,,,,,,,,,53263,11778,ENSG00000173226,ENST00000349820,CCDS33836.1,IQCB1,0.71,,,,,5.91863,36,Q15051_R328X,R,X,328,RX,R328X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6198,P98194,L,P,584,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,21,13425,ENSG00000017260,ENST00000328560,CCDS46913.1,ATP2C1,0.66,probably_damaging,0.938,deleterious,0,4.29189,22.5,P98194_L584P,L,P,584,LP,L584P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,,,,0.763152
6238,Q9H244,R,W,265,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,2801,106,ENSG00000169313,ENST00000302632,CCDS3159.1,P2RY12,0.77,probably_damaging,0.979,deleterious,0.01,3.56455,18.17,Q9H244_R265W,R,W,265,RW,R265W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.439,-5.225,3.786,,,,,,0.322,,55.26,0.00423643,0,0.144471,0.832905
6241,Q96RP9,R,X,47,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.05,0,0,0,,,,,,981,137,ENSG00000168827,ENST00000264263,,GFM1,0.06,,,,,4.97029,29,Q96RP9_R47X,R,X,47,RX,R47X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000583216,0,0.0198889,0.977351
6248,P14410,C,Y,1229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,60875,38723,ENSG00000090402,ENST00000264382,CCDS3196.1,SI,0.67,probably_damaging,0.997,deleterious,0,4.13369,21.3,P14410_C1229Y,C,Y,1229,CY,C1229Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,0.038,.,B,0.25,-0.22,,,,0.000681375,0,0.0232363,0.593437
6253,P14410,Q,R,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,9395,382,ENSG00000090402,ENST00000264382,CCDS3196.1,SI,0.06,benign,0.001,tolerated,0.17,1.65925,11.51,P14410_Q117R,Q,R,117,QR,Q117R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-2.283,-3.604,1.321,0.564,E,B,0.56,2.03,4.487,,90.48,0.00040583,0,0.0138396,0.971512
6376,Q9H3D4,R,C,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,78104,5671,ENSG00000073282,ENST00000392461,,TP63,0.54,possibly_damaging,0.887,deleterious,0,3.99293,20.5,Q9H3D4_R225C,R,C,225,RC,R225C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00127729,0,0.0435583,0.879238
6483,O43490,Q,X,576,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,82091,17838,ENSG00000007062,ENST00000539194,CCDS54747.1,PROM1,0.69,,,,,5.01585,29.6,O43490_Q576X,Q,X,576,QX,Q576X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6506,P10721,E,K,579,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,69596,11497,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.6,probably_damaging,0.908,deleterious,0,5.25646,33,P10721_E579K,E,K,579,EK,E579K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00064043,0,0.02184,0.990526
6507,P10721,F,C,580,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,69600,11493,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.6,probably_damaging,0.997,deleterious,0,4.08742,21,P10721_F580C,F,C,580,FC,F580C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,,,,,,,,,,,,0.00053584,0,0.0182733,0.956177
6535,P02768,R,H,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,0,0,0,0.001,,0.01,,,1627,221,ENSG00000163631,ENST00000509063,,ALB,0.4,benign,0.04,tolerated,0.13,1.52084,11.04,P02768_R242H,R,H,242,RH,R242H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.324,-3.246,0.922,0.209,H,A,1.03,-0.96,27.962,27.962,78.98,0.00186521,0,0.0636076,0.863557
6536,P02768,R,P,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,1627,221,ENSG00000163631,ENST00000509063,,ALB,0.4,probably_damaging,0.945,deleterious,0.01,2.53209,14.43,P02768_R242P,R,P,242,RP,R242P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-2.324,-4.279,1.955,0.209,H,A,0.68,-0.96,1.888,,78.98,0.00186521,0,0.0636076,0.693813
6553,Q96H96,R,H,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,5461,55,ENSG00000173085,ENST00000311461,,COQ2,0.45,probably_damaging,1,deleterious,0,5.00869,29.5,Q96H96_R147H,R,H,147,RH,R147H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.000523212,0,0.0178426,0.825283
6563,Q13563,R,X,464,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,3451,29147,ENSG00000118762,ENST00000237596,CCDS3627.1,PKD2,0.48,,,,,7.2044,38,Q13563_R464X,R,X,464,RX,R464X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00101527,0,0.0346229,0.908362
6572,P55157,R,H,540,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,17087,14028,ENSG00000138823,ENST00000457717,CCDS3651.1,MTTP,0.6,probably_damaging,1,deleterious,0,4.45597,23.8,P55157_R540H,R,H,540,RH,R540H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.000555938,0,0.0189586,0.825283
6584,Q16836,D,E,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,5162,25375,ENSG00000138796,ENST00000309522,CCDS3678.1,HADH,0.18,possibly_damaging,0.471,tolerated,0.2,3.18934,16.68,Q16836_D57E,D,E,57,DE,D57E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.057,-2.542,1.485,0.189,.,b,0.29,-0.18,,,,0.00468267,0,0.159689,0.773831
6595,Q01484,R,W,3873,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,0.001,0.001,0.001,0.001,0.002,,,0.001,12,8166,ENSG00000145362,ENST00000264366,,ANK2,0.99,probably_damaging,0.997,deleterious,0,4.07261,20.9,Q01484_R3873W,R,W,3873,RW,R3873W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
6600,Q6ZW61,P,R,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,9418,251,ENSG00000181004,ENST00000542236,CCDS3728.1,BBS12,0.15,probably_damaging,0.999,deleterious,0,3.86746,19.65,Q6ZW61_P108R,P,R,108,PR,P108R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.065,-3.841,2.776,,,,,,1.205,,30.42,0.00046005,0,0.0156887,0.82414
6601,Q6ZW61,R,X,355,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,10158,490,ENSG00000181004,ENST00000542236,CCDS3728.1,BBS12,0.5,,,,,4.61242,25.2,Q6ZW61_R355X,R,X,355,RX,R355X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00112904,0,0.0385025,0.908362
6609,Q8IVH4,Y,C,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,4582,580,ENSG00000151611,ENST00000281317,CCDS3766.1,MMAA,0.5,probably_damaging,0.996,deleterious,0,3.77554,19.17,Q8IVH4_Y207C,Y,C,207,YC,Y207C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.372,-4.815,3.443,,,,,,0.832,,84.69,0.00450523,0,0.153638,0.824697
6631,Q16134,L,H,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,457,26,ENSG00000171503,ENST00000307738,,ETFDH,0.14,probably_damaging,1,deleterious,0,4.41057,23.4,Q16134_L80H,L,H,80,LH,L80H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,,,,,,,,,,,,0.000350586,0,0.0119557,0.990829
6640,P20933,A,V,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,3,375,ENSG00000038002,ENST00000264595,CCDS3829.1,AGA,0.29,probably_damaging,0.996,deleterious,0,5.65191,36,P20933_A101V,A,V,101,AV,A101V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-0.949,-2.934,1.985,,E,B,0.44,0,,,,0.00359144,0,0.122475,0.72663
6672,Q6ZWL3,R,C,400,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,0,0,0,,,,,,8,1830,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.76,probably_damaging,1,deleterious,0,3.48181,17.81,Q6ZWL3_R400C,R,C,400,RC,R400C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.23,-4.876,3.646,,,,,,1.375,,75.43,0.000491937,0,0.0167761,0.826373
6673,Q6ZWL3,R,H,400,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,0.001,,0.003,,,7,1829,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.76,probably_damaging,1,deleterious,0,4.0961,21.1,Q6ZWL3_R400H,R,H,400,RH,R400H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.23,-4.174,2.944,,,,,,1.457,,75.43,0.000491937,0,0.0167761,0.86561
6775,P10912,W,X,34,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0,,,,,,,,,63213,30296,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.05,,,,,4.52654,24.4,P10912_W34X,W,X,34,WX,W34X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000600897,0,0.0204918,0.956807
6781,P10912,F,S,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,129135,24801,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.18,probably_damaging,0.995,deleterious,0,4.44229,23.7,P10912_F114S,F,S,114,FS,F114S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.07,-3.466,2.396,,E,B,0.85,-1.2,,,,0.000373826,0,0.0127483,0.536137
6788,P10912,R,C,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,0.006,0.001,0.008,0.002,,0.01,,0.004,134063,19873,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.28,benign,0.007,deleterious,0,2.90953,15.7,P10912_R179C,R,C,179,RC,R179C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.547,-4.855,2.308,1.06,T,A,1.66,1.26,1.642,,92.01,0.00107656,0,0.0367128,0.848606
6790,P10912,R,X,235,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,145435,8501,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.37,,,,,5.76101,36,P10912_R235X,R,X,235,RX,R235X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000805633,0,0.0274737,0.977351
6804,O43181,R,X,102,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,176,12419,ENSG00000164258,ENST00000506765,,NDUFS4,0.88,,,,,5.75499,36,O43181_R102X,R,X,102,RX,R102X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6813,Q9HCC0,D,Y,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,0.001,0.002,,,,8323,123,ENSG00000131844,ENST00000509539,,MCCC2,0.19,probably_damaging,0.998,deleterious,0,4.20284,21.8,Q9HCC0_D55Y,D,Y,55,DY,D55Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.00355646,0,0.121282,0.940136
6849,P25054,Q,X,208,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,42548,58175,ENSG00000134982,ENST00000257430,CCDS4107.1,APC,0.07,,,,,6.3977,37,P25054_Q208X,Q,X,208,QX,Q208X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6920,Q9UH77,E,A,3,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,13,20979,ENSG00000146021,ENST00000506491,,KLHL3,0.01,possibly_damaging,0.661,deleterious,0.01,4.89697,28.2,Q9UH77_E3A,E,A,3,EA,E3A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,,,,,,,,,,,,0.000565321,0,0.0192786,0.980237
6961,P50443,T,K,512,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,3148,6278,ENSG00000155850,ENST00000286298,CCDS4300.1,SLC26A2,0.69,probably_damaging,0.986,deleterious,0.03,3.68407,18.72,P50443_T512K,T,K,512,TK,T512K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.336,-3.37,2.034,,,,,,2.429,,53.86,0.000936354,0,0.0319316,0.889185
7077,P05549,G,E,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,2005,52,ENSG00000137203,ENST00000498450,,TFAP2A,0.88,probably_damaging,0.998,deleterious,0,4.76749,26.7,P05549_G119E,G,E,119,GE,G119E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00235752,0,0.0803961,0.957627
7089,Q8N0V5,G,E,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,40701,18,ENSG00000111846,ENST00000265012,CCDS4513.1,GCNT2,0.87,possibly_damaging,0.597,deleterious,0.01,4.37244,23.1,Q8N0V5_G350E,G,E,350,GE,G350E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.763,-3.521,2.758,,,,,,,,,0.00299767,0,0.102227,0.761824
7099,P51580,A,G,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,21191,5573,ENSG00000137364,ENST00000309983,CCDS4543.1,TPMT,0.68,possibly_damaging,0.649,deleterious,0,1.56638,11.19,P51580_A167G,A,G,167,AG,A167G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.593,-2.168,0.575,0.01,H,A,0.29,-0.19,38.916,38.916,84.08,0.00680843,0,0.232182,0.915687
7177,P22033,G,R,703,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,27719,5113,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.94,probably_damaging,1,deleterious,0,4.77235,26.8,P22033_G703R,G,R,703,GR,G703R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.62,-3.933,3.313,0.184,E,g,0.91,-0.8,,,,0.00022597,0,0.00770605,0.590512
7178,P22033,G,R,623,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,0,0,0,,,,,,22897,9935,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.83,probably_damaging,1,deleterious,0,5.06019,31,P22033_G623R,G,R,623,GR,G623R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.62,-3.933,3.313,0.034,T,p,0.91,-0.21,,,,0.00044653,0,0.0152276,0.59139
7222,P21953,H,Y,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,62347,861,ENSG00000083123,ENST00000369760,,BCKDHB,0.94,probably_damaging,0.994,deleterious,0,4.29124,22.4,P21953_H206Y,H,Y,206,HY,H206Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.341,-3.916,2.575,1,T,A,0.38,-0.8,1.213,,67.6,0.00245037,0,0.0835626,0.686423
7239,Q03692,Y,D,598,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,834,1298,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.88,,,deleterious,0,2.53394,14.43,Q03692_Y598D,Y,D,598,YD,Y598D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.023,-3.774,2.751,0.42,E,B,0.96,-0.36,,,,0.00331626,0,0.113091,0.63558
7241,Q03692,G,E,595,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,826,1306,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.88,,,deleterious,0,3.06829,16.24,Q03692_G595E,G,E,595,GE,G595E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.763,-3.521,2.758,,E,g,0.75,0.83,,,,0.00090949,0,0.0310155,0.655945
7275,P22413,E,X,893,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,82376,455,ENSG00000197594,ENST00000360971,CCDS5150.2,ENPP1,0.97,,,,,7.86903,39,P22413_E893X,E,X,893,EX,E893X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00258058,0,0.088003,0.953272
7276,P22413,Y,S,901,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,82401,430,ENSG00000197594,ENST00000360971,CCDS5150.2,ENPP1,0.97,probably_damaging,0.997,deleterious,0,4.03323,20.7,P22413_Y901S,Y,S,901,YS,Y901S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,-1.231,-3.481,2.25,,,,,,1.271,,50.49,0.00925495,0,0.315613,0.718692
7298,Q6PHW0,I,T,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,19543,111,ENSG00000009765,ENST00000500320,,IYD,0.41,probably_damaging,0.997,deleterious,0,3.29614,17.07,Q6PHW0_I116T,I,T,116,IT,I116T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.212,-3.239,2.027,0.008,H,A,0.7,-0.28,,,,0.00536857,0,0.183079,0.639813
7358,P31271,W,X,369,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.07,,,,,,,,,318,2979,ENSG00000106031,ENST00000222753,CCDS5412.1,HOXA13,0.95,,,,,5.76265,36,P31271_W369X,W,X,369,WX,W369X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0148586,0,0.50671,0.904444
7359,P41250,L,P,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,6295,1909,ENSG00000106105,ENST00000389266,CCDS43564.1,GARS,0.25,probably_damaging,0.999,deleterious,0,4.6329,25.4,P41250_L183P,L,P,183,LP,L183P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,0.686,E,B,1.07,-1.61,,,,0.00230007,0,0.078437,0.577985
7381,Q8N427,L,X,426,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.05,,,,,,,,,38053,94,ENSG00000086288,ENST00000440017,CCDS5452.1,NME8,0.72,,,,,2.45601,14.17,Q8N427_L426X,L,X,426,LX,L426X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
7457,Q9Y3A5,R,X,218,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,7105,34,ENSG00000126524,ENST00000246868,CCDS5537.1,SBDS,0.87,,,,,4.70497,26.1,Q9Y3A5_R218X,R,X,218,RX,R218X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0103237,0,0.35206,0.916424
7484,P16671,P,S,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,0.003,0.01,,,,9978,4,ENSG00000135218,ENST00000433696,,CD36,0.21,probably_damaging,1,deleterious,0,4.4377,23.6,P16671_P90S,P,S,90,PS,P90S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.966,-3.203,2.237,,,,,,,,,0.000383312,0,0.0130717,0.837228
7517,O43556,R,X,97,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,27796,4975,ENSG00000127990,ENST00000447873,,SGCE,0.23,,,,,4.68279,25.9,O43556_R97X,R,X,97,RX,R97X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00184479,0,0.0629112,0.959275
7519,Q9UJS0,R,X,605,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.05,,,,,,,,,316,727,ENSG00000004864,ENST00000265631,CCDS5645.1,SLC25A13,0.9,,,,,6.37235,37,Q9UJS0_R605X,R,X,605,RX,R605X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00315376,0,0.10755,0.951177
7565,P40879,H,L,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,11367,12,ENSG00000091138,ENST00000340010,CCDS5748.1,SLC26A3,0.16,probably_damaging,1,deleterious,0,3.4382,17.63,P40879_H124L,H,L,124,HL,H124L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.21,-3.4,2.19,,,,,,,,,,,,0.7807
7579,P08581,D,N,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,6178,12990,ENSG00000105976,ENST00000539704,,MET,0.38,probably_damaging,0.967,deleterious,0.03,4.82979,27.4,P08581_D98N,D,N,98,DN,D98N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.000345745,0,0.0117906,1.00248
7580,P08581,Y,C,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,6185,12983,ENSG00000105976,ENST00000539704,,MET,0.38,probably_damaging,1,deleterious,0,3.34505,17.26,P08581_Y100C,Y,C,100,YC,Y100C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.000382892,0,0.0130574,0.957538
7590,P13569,F,L,281,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,60068,126909,ENSG00000001626,ENST00000426809,,CFTR,0.2,probably_damaging,0.999,deleterious,0.01,4.18784,21.7,P13569_F281L,F,L,281,FL,F281L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.000215111,0,0.00733573,0.984454
7598,P13569,G,V,428,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,68709,118268,ENSG00000001626,ENST00000426809,,CFTR,0.3,probably_damaging,1,deleterious,0,4.02757,20.7,P13569_G428V,G,V,428,GV,G428V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.000750894,0.00285171,0.025607,0.973283
7629,P13569,K,X,686,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,112218,74759,ENSG00000001626,ENST00000426809,,CFTR,0.48,,,,,5.65398,36,P13569_K686X,K,X,686,KX,K686X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000204157,0,0.00696217,0.98231
7651,P13569,W,X,1252,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,0,0,0.001,,,,,,4850,24506,ENSG00000001626,ENST00000426809,,CFTR,0.87,,,,,9.95058,43,P13569_W1252X,W,X,1252,WX,W1252X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00148999,0,0.0508118,0.881419
7660,Q9NYV7,N,K,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,0.094,0.274,0.001,0.08,,0.03,0.34,,582,414,ENSG00000128519,ENST00000249284,CCDS5785.1,TAS2R16,0.59,benign,0,tolerated,1,-1.13233,0.116,Q9NYV7_N172K,N,K,172,NK,N172K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-3.822,-2.42,-1.402,,,,,,24.946,24.946,90.03,0.00718195,0,0.244919,0.995448
7664,Q9NW13,L,P,351,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,6266,7337,ENSG00000106344,ENST00000223073,CCDS5801.1,RBM28,0.46,probably_damaging,0.937,deleterious,0,4.1907,21.7,Q9NW13_L351P,L,P,351,LP,L351P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00105667,0,0.0360346,0.725444
7679,Q9HBG4,M,T,580,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,0.094,0.185,0.048,0.08,0.05,0.04,0.22,0.03,40992,26520,ENSG00000105929,ENST00000310018,CCDS5849.1,ATP6V0A4,0.69,benign,0.257,deleterious,0.04,3.3172,17.15,Q9HBG4_M580T,M,T,580,MT,M580T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.841,-3.305,1.464,,,,,,2.904,,86.43,0.00159519,0,0.0543992,0.972735
7688,P15056,E,K,501,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,5151,43410,ENSG00000157764,ENST00000288602,CCDS5863.1,BRAF,0.65,probably_damaging,0.997,deleterious,0.01,5.12688,32,P15056_E501K,E,K,501,EK,E501K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.404,-2.689,1.285,0.064,H,A,1.3,0.49,,,,0.000545888,0,0.0186159,0.7464
7737,Q9UGJ0,R,Q,531,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,3704,235,ENSG00000106617,ENST00000287878,CCDS5928.1,PRKAG2,0.93,probably_damaging,0.999,deleterious,0,5.71863,36,Q9UGJ0_R531Q,R,Q,531,RQ,R531Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.565,-3.439,1.874,0.124,E,B,0.56,-0.99,1.414,,76.63,0.0134819,0,0.45976,0.699825
7738,Q9UGJ0,R,G,531,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,3703,236,ENSG00000106617,ENST00000287878,CCDS5928.1,PRKAG2,0.93,probably_damaging,1,deleterious,0,3.65325,18.57,Q9UGJ0_R531G,R,G,531,RG,R531G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.565,-1.741,0.176,0.124,E,B,0.91,-0.99,39.068,39.068,76.63,0.0134819,0,0.45976,0.844679
7741,Q9UGJ0,H,R,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,6151,64,ENSG00000106617,ENST00000287878,CCDS5928.1,PRKAG2,0.67,probably_damaging,0.998,tolerated,0.28,3.73729,18.98,Q9UGJ0_H383R,H,R,383,HR,H383R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.433,-3.218,1.785,0.376,S,A,1.03,-0.6,,,,0.00116955,0,0.039884,0.862665
7797,P06858,I,T,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,15362,182,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.53,possibly_damaging,0.45,deleterious,0.01,3.38485,17.42,P06858_I252T,I,T,252,IT,I252T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.313,-3.198,1.885,,,,,,,,,0.00307795,0,0.104965,0.878875
7828,Q56NI9,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.4,0,,,,,,,,,8780,10623,ENSG00000171320,ENST00000305188,CCDS34872.1,ESCO2,,,,,,3.57737,18.23,Q56NI9_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7868,Q68CP4,L,X,68,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,65,13406,ENSG00000165102,ENST00000522082,,HGSNAT,0.37,,,,,5.78532,36,Q68CP4_L68X,L,X,68,LX,L68X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
7889,O75881,G,R,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,174269,28358,ENSG00000172817,ENST00000310193,CCDS6180.1,CYP7B1,0.11,probably_damaging,0.999,deleterious,0,4.82345,27.4,O75881_G57R,G,R,57,GR,G57R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.705,-3.842,3.137,,,,,,,,,,,,0.752031
7945,Q7Z7G8,I,T,2820,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,805207,59107,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.7,possibly_damaging,0.677,deleterious,0.02,3.68285,18.71,Q7Z7G8_I2820T,I,T,2820,IT,I2820T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.72,-3.31,1.59,,,,,,2.756,,82.02,,,,0.909262
8040,Q5H8C1,R,W,650,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,85502,87533,ENSG00000164946,ENST00000380881,,FREM1,0.3,probably_damaging,0.998,deleterious,0.01,4.75206,26.6,Q5H8C1_R650W,R,W,650,RW,R650W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
8080,Q9Y223,R,L,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,15283,16925,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.36,probably_damaging,0.995,deleterious,0.01,4.92097,28.4,Q9Y223_R263L,R,L,263,RL,R263L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.582,-3.04,1.458,,,,,,,,,0.00138848,0,0.0473501,0.827881
8114,Q16595,W,X,53,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,18611,7779,ENSG00000165060,ENST00000484259,,FXN,0.49,,,,,5.05161,30,Q16595_W53X,W,X,53,WX,W53X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00474873,0.00636943,0.161941,0.913789
8115,Q16595,L,P,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,18613,7777,ENSG00000165060,ENST00000484259,,FXN,0.5,probably_damaging,0.956,deleterious,0,3.7343,18.96,Q16595_L54P,L,P,54,LP,L54P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00399251,0,0.136153,0.956264
8116,Q16595,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.4,0.03,,,,,,,,,18630,7760,ENSG00000165060,ENST00000484259,,FXN,,,,,,2.78091,15.26,Q16595_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8175,P23025,R,X,228,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.05,,,,,,,,,377,512,ENSG00000136936,ENST00000375128,CCDS6729.1,XPA,0.84,,,,,5.32595,34,P23025_R228X,R,X,228,RX,R228X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0121307,0,0.413683,0.915392
8347,Q9H9B1,Q,X,573,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.05,,,,,,,,,22405,146,ENSG00000181090,ENST00000334856,,EHMT1,0.69,,,,,6.85011,38,Q9H9B1_Q573X,Q,X,573,QX,Q573X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000678649,0,0.0231433,0.98231
8359,P51690,G,A,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,0,0,0,,,,,,66,332,ENSG00000157399,ENST00000545496,,ARSE,0.26,probably_damaging,0.986,deleterious,0.01,2.98573,15.96,P51690_G162A,G,A,162,GA,G162A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,,,,,,,,,,,,0.000495007,0,0.0168808,0.991768
8375,P51810,T,K,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,22328,72,ENSG00000101850,ENST00000467482,CCDS14134.2,GPR143,0.57,probably_damaging,1,deleterious,0,4.55816,24.7,P51810_T232K,T,K,232,TK,T232K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.067,-3.274,2.207,,,,,,,,,0.00251274,0,0.0856895,0.807834
8384,P53701,R,C,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,10287,228,ENSG00000004961,ENST00000380763,CCDS14139.1,HCCS,0.81,probably_damaging,1,deleterious,0,4.90609,28.3,P53701_R217C,R,C,217,RC,R217C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.556,-4.857,3.301,,,,,,1.355,,85.45,0.00401158,0,0.136803,0.832324
8430,P51812,R,W,354,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,43618,19987,ENSG00000177189,ENST00000379548,,RPS6KA3,0.5,benign,0.263,deleterious,0,3.3275,17.19,P51812_R354W,R,W,354,RW,R354W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000419842,0,0.0143175,0.987856
8444,P78562,L,X,277,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,3587,5284,ENSG00000102174,ENST00000379374,CCDS14204.1,PHEX,0.37,,,,,10.3094,43,P78562_L277X,L,X,277,LX,L277X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.000982618,0,0.0335093,0.914199
8482,P11532,R,X,3370,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.05,,,,,,,,,4144,345,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.91,,,,,19.7595,52,P11532_R3370X,R,X,3370,RX,R3370X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8484,P11532,R,X,3190,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,63,37077,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.87,,,,,20.8907,53,P11532_R3190X,R,X,3190,RX,R3190X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8496,P11532,Y,X,1995,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,818147,378098,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.54,,,,,14.5187,48,P11532_Y1995X,Y,X,1995,YX,Y1995X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
8509,P11532,W,X,651,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,562619,49146,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.18,,,,,8.17966,40,P11532_W651X,W,X,651,WX,W651X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
8511,P11532,G,X,480,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,202207,40736,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.13,,,,,8.18925,40,P11532_G480X,G,X,480,GX,G480X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,,,,0.933822
8515,P11532,A,D,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,59,242884,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.05,probably_damaging,1,deleterious,0,4.98195,29.2,P11532_A168D,A,D,168,AD,A168D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.088,-3.471,2.383,0.019,H,A,0.75,-0.98,,,,,,,0.584536
8536,Q92834,G,S,275,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,86,7438,ENSG00000156313,ENST00000318842,CCDS14246.1,RPGR,0.34,probably_damaging,0.999,deleterious,0,4.5052,24.2,Q92834_G275S,G,S,275,GS,G275S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.741,-3.036,2.295,,,,,,,,,0.000166709,0,0.00568511,0.828584
8538,Q92834,G,R,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,1573,172,ENSG00000156313,ENST00000318842,CCDS14246.1,RPGR,0.21,probably_damaging,0.999,deleterious,0,4.06378,20.9,Q92834_G173R,G,R,173,GR,G173R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.741,-3.808,3.067,,,,,,,,,0.00014433,0,0.00492195,0.789326
8540,Q92834,T,N,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,6382,36632,ENSG00000156313,ENST00000318842,CCDS14246.1,RPGR,0.12,probably_damaging,0.996,deleterious,0,4.29143,22.4,Q92834_T99N,T,N,99,TN,T99N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,-0.966,-3.323,2.357,,,,,,,,,0.000281089,0,0.00958571,0.829668
8609,P00480,E,K,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,17266,33797,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.28,probably_damaging,0.991,deleterious,0,4.72256,26.3,P00480_E98K,E,K,98,EK,E98K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.924,-3.354,2.43,0.353,H,A,1.3,-0.34,3.626,,37.29,0.00136526,0,0.0465581,0.69844
8640,P00480,A,P,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,58,2362,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.4,probably_damaging,1,deleterious,0,5.07354,31,P00480_A140P,A,P,140,AP,A140P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.381,-3.405,2.024,,E,B,0.52,-0.58,29.628,29.628,54.24,0.0041527,0.0046729,0.141616,0.661847
8641,P00480,R,G,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,55,2359,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.4,probably_damaging,1,deleterious,0,4.19072,21.7,P00480_R141G,R,G,141,RG,R141G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-0.821,-2.506,1.685,0.06,E,B,0.91,-0.65,22.036,22.036,59.89,0.000683042,0,0.0232931,0.645253
8642,P00480,R,X,141,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,55,2359,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.4,,,,,7.65511,39,P00480_R141X,R,X,141,RX,R141X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000683042,0,0.0232931,0.977351
8669,P00480,Y,X,167,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,26,2279,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.47,,,,,6.94458,38,P00480_Y167X,Y,X,167,YX,Y167X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00560527,0,0.191151,0.923877
8670,P00480,Y,X,167,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,26,2279,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.47,,,,,6.88157,38,P00480_Y167X,Y,X,167,YX,Y167X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00560527,0,0.191151,0.923877
8671,P00480,H,P,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,28,2277,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.47,probably_damaging,1,deleterious,0,4.43691,23.6,P00480_H168P,H,P,168,HP,H168P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-0.812,-4.03,3.218,0.024,.,b,0.35,-0.66,0.977,,43.22,0.000602608,0,0.0205502,0.62341
8672,P00480,H,R,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,28,2277,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.47,probably_damaging,1,deleterious,0,4.47253,23.9,P00480_H168R,H,R,168,HR,H168R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-0.812,-2.877,2.065,0.024,.,b,1.03,-0.66,14.87,14.87,43.22,0.000602608,0,0.0205502,0.67228
8673,P00480,H,Q,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,29,2276,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.47,probably_damaging,1,deleterious,0,3.89479,19.8,P00480_H168Q,H,Q,168,HQ,H168Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-0.812,-2.973,2.161,0.024,.,b,0.47,-0.66,8.461,8.461,43.22,0.000602608,0,0.0205502,0.677199
8674,P00480,P,A,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,30,2275,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.48,probably_damaging,0.999,deleterious,0,4.75897,26.7,P00480_P169A,P,A,169,PA,P169A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-0.652,-2.62,1.968,,H,A,0.52,-0.76,12.519,12.519,43.22,0.000491843,0,0.0167728,0.724707
8675,P00480,P,L,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,31,2274,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.48,probably_damaging,1,deleterious,0,5.05178,30,P00480_P169L,P,L,169,PL,P169L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.652,-3.697,3.045,,H,A,1.07,-0.76,2.573,,43.22,0.000491843,0,0.0167728,0.599449
8679,P00480,D,G,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,49,2256,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.49,probably_damaging,1,deleterious,0,4.46532,23.9,P00480_D175G,D,G,175,DG,D175G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.795,-3.356,2.561,0.012,H,A,0.46,-0.71,2.725,,46.05,0.000800403,0,0.0272954,0.578384
8680,P00480,D,V,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,49,2256,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.49,probably_damaging,1,deleterious,0,4.33707,22.8,P00480_D175V,D,V,175,DV,D175V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-0.795,-3.891,3.096,0.012,H,A,1.19,-0.71,1.898,,46.05,0.000800403,0,0.0272954,0.522107
8681,P00480,Y,H,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,51,2254,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.5,probably_damaging,0.993,deleterious,0,3.96737,20.3,P00480_Y176H,Y,H,176,YH,Y176H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-2.057,-4.908,2.851,0.017,H,A,0.38,-0.86,1.294,,39.83,0.00554249,0,0.18901,0.578702
8750,P00480,L,Q,244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,7526,3001,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.69,benign,0.39,deleterious,0,3.58306,18.25,P00480_L244Q,L,Q,244,LQ,L244Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.688,-4.549,2.861,0.307,E,B,1.19,0.34,2.727,,92.66,0.00495669,0,0.169033,0.774083
8816,P00480,Y,H,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,68505,401,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.97,benign,0.037,tolerated,0.21,2.46041,14.19,P00480_Y345H,Y,H,345,YH,Y345H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.586,-2.684,1.098,0.204,.,B,0.38,-0.24,31.503,31.503,88.98,0.0332217,0.111111,1.13293,0.927842
8817,P00480,Y,D,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,68505,401,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.97,possibly_damaging,0.809,deleterious,0,4.17211,21.6,P00480_Y345D,Y,D,345,YD,Y345D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.586,-3.881,2.295,0.204,.,B,0.96,-0.24,3.605,,88.98,0.0332217,0.111111,1.13293,0.773175
8818,P00480,Y,C,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,68506,400,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.97,probably_damaging,0.945,deleterious,0,3.81223,19.36,P00480_Y345C,Y,C,345,YC,Y345C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.586,-5.115,3.529,0.204,.,B,0.25,-0.24,0.841,,88.98,0.0332217,0.111111,1.13293,0.745563
8833,O14936,R,X,610,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.01,,,,,,,,,7785,1238,ENSG00000147044,ENST00000421587,CCDS48094.1,CASK,0.68,,,,,7.16353,38,O14936_R610X,R,X,610,RX,R610X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00185111,0.00949367,0.0631265,0.959275
8976,P10275,A,T,597,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,117141,3734,ENSG00000169083,ENST00000504326,,AR,0.93,probably_damaging,0.996,deleterious,0,3.21446,16.77,P10275_A597T,A,T,597,AT,A597T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00154486,0,0.0526828,0.917303
9026,Q92838,R,C,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,336689,385,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.4,,,deleterious,0,2.65886,14.85,Q92838_R155C,R,C,155,RC,R155C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.056,-2.544,0.488,,,,,,12.608,12.608,90.79,0.000797698,0,0.0272032,0.965808
9027,Q92838,R,C,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.04,,,,,,,,,336692,382,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.4,,,deleterious,0,2.85573,15.51,Q92838_R156C,R,C,156,RC,R156C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.746,-2.168,0.422,,,,,,12.608,12.608,26.09,0.00135262,0,0.0461272,0.922752
9071,P46100,E,X,2350,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.04,,,,,,,,,265399,15926,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.96,,,,,15.989,49,P46100_E2350X,E,X,2350,EX,E2350X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
9124,P24386,S,X,347,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,153091,29884,ENSG00000188419,ENST00000537751,,CHM,0.69,,,,,5.34111,34,P24386_S347X,S,X,347,SX,S347X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
9136,Q06187,L,P,476,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,714,460,ENSG00000010671,ENST00000372880,,BTK,0.99,possibly_damaging,0.845,tolerated,0.26,2.80235,15.33,Q06187_L476P,L,P,476,LP,L476P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.0014942,0,0.0509554,0.905673
9225,P05543,Y,F,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,0.002,0,0.003,0,,,,,988,606,ENSG00000123561,ENST00000327674,CCDS14518.1,SERPINA7,0.79,benign,0.001,tolerated,1,-1.28915,0.04,P05543_Y329F,Y,F,329,YF,Y329F,Hydrophobic,Hydrophobic,5.66,3.32,-2.34,181,165,-16,193.6,189.9,-3.7,22,-1.93,-1.189,-0.741,0.199,T,A,0.37,-0.98,32.23,32.23,83.61,0.00151024,0,0.0515022,0.938184
9229,P05543,A,T,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,0.001,0.002,0,0.005,0.02,,,,97,1690,ENSG00000123561,ENST00000327674,CCDS14518.1,SERPINA7,0.51,benign,0.106,tolerated,0.29,1.84887,12.14,P05543_A211T,A,T,211,AT,A211T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.71,-2.418,0.708,0.447,S,A,0.22,-0.21,3.496,3.496,76.87,0.00455689,0,0.155399,0.915591
9247,P29400,Y,X,30,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0,,,,,,,,,99812,29282,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.02,,,,,6.5729,37,P29400_Y30X,Y,X,30,YX,Y30X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000120289,0,0.0041021,0.977829
9256,P29400,G,S,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,131576,126084,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.09,,,deleterious,0,4.35584,22.9,P29400_G144S,G,S,144,GS,G144S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,2.48e-05,0,0.000844499,0.865373
9261,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.4,0,,,,,,,,,136027,121633,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.29396,22.5,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9271,P29400,G,S,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,138205,119455,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.13,,,deleterious,0,4.12886,21.3,P29400_G219S,G,S,219,GS,G219S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.063,-2.931,1.868,,,,,,4.025,,47.77,2.39e-05,0,0.000814743,0.944186
9282,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.4,0,,,,,,,,,140857,116803,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.54449,24.6,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9285,P29400,E,X,305,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0,,,,,,,,,141122,116538,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.18,,,,,7.87223,39,P29400_E305X,E,X,305,EX,E305X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000104654,0,0.00356893,0.98778
9286,P29400,G,R,310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,141137,116523,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.18,,,deleterious,0,3.41003,17.52,P29400_G310R,G,R,310,GR,G310R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.000177143,0,0.00604093,0.78896
9315,P29400,G,C,521,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,14550,30228,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.31,,,deleterious,0,2.24916,13.48,P29400_G521C,G,C,521,GC,G521C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.861,-4.864,4.003,,,,,,,,,0.000100042,0,0.00341165,0.792807
9316,P29400,G,D,521,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0,,,,,,,,,14551,30227,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.31,,,deleterious,0,2.9525,15.84,P29400_G521D,G,D,521,GD,G521D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.000100042,0,0.00341165,0.812925
9369,P29400,,,,Transcript,INTRONIC,2,intron,pathogenic,0.4,0,,,,,,,,,884,4763,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,3.2,16.71,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9429,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.4,0.01,,,,,,,,,5818,195,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.28583,22.4,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9484,P98170,E,X,118,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.4,0.03,,,,,,,,,25560,117,ENSG00000101966,ENST00000434753,CCDS14606.1,XIAP,0.24,,,,,3.93338,20.1,P98170_E118X,E,X,118,EX,E118X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00151242,0.00263852,0.0515766,0.902682
9493,Q01968,R,C,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,22121,30166,ENSG00000122126,ENST00000371113,CCDS35393.1,OCRL,0.35,probably_damaging,1,deleterious,0,4.17419,21.6,Q01968_R318C,R,C,318,RC,R318C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.394,-5.364,3.97,0.167,E,B,1.66,-0.95,0.447,,36.85,0.000915301,0,0.0312136,0.513541
9494,Q01968,Y,C,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,46,25190,ENSG00000122126,ENST00000371113,CCDS35393.1,OCRL,0.53,probably_damaging,0.998,deleterious,0,3.38347,17.41,Q01968_Y479C,Y,C,479,YC,Y479C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.037,-5.159,4.122,0.011,B,B,0.25,0.04,0.877,,80.91,0.00152357,0,0.0519568,0.714658
9496,Q01968,H,Q,524,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,2082,23154,ENSG00000122126,ENST00000371113,CCDS35393.1,OCRL,0.58,probably_damaging,1,deleterious,0,3.72613,18.92,Q01968_H524Q,H,Q,524,HQ,H524Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-0.685,-3.903,3.218,0.029,S,B,0.47,-0.8,0.966,,35.63,0.000168808,0,0.0057567,0.623066
9501,Q6ZUT3,L,R,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,8272,8120,ENSG00000165694,ENST00000298542,CCDS35397.1,FRMD7,0.2,probably_damaging,1,deleterious,0,4.10981,21.2,Q6ZUT3_L142R,L,R,142,LR,L142R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.039,-3.75,2.711,,,,,,,,,0.000538589,0,0.018367,0.803746
9510,Q8IWS0,C,F,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,20183,21737,ENSG00000156531,ENST00000394292,,PHF6,0.27,probably_damaging,0.998,deleterious,0,4.37696,23.1,Q8IWS0_C99F,C,F,99,CF,C99F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.412,-3.803,2.391,,,,,,,,,0.0007422,0,0.0253106,0.803171
9554,P29965,M,R,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,128,12036,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.14,possibly_damaging,0.658,deleterious,0.01,2.98218,15.94,P29965_M36R,M,R,36,MR,M36R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-2.013,-3.96,1.947,,,,,,1.702,,84.67,0.00277366,0,0.0945875,0.941163
9578,P00740,P,A,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,10334,7294,ENSG00000101981,ENST00000218099,CCDS14666.1,F9,0.22,probably_damaging,0.999,deleterious,0,4.46807,23.9,P00740_P101A,P,A,101,PA,P101A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-0.966,-2.895,1.929,0.233,.,A,0.52,0.87,,,,0.00160963,0,0.0548917,0.878811
9588,P00740,R,W,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,20452,10855,ENSG00000101981,ENST00000394090,,F9,0.44,probably_damaging,1,deleterious,0,2.89665,15.65,P00740_R188W,R,W,188,RW,R188W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00342582,0,0.116828,0.960989
9589,P00740,R,Q,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.01,,,,,,,,,20453,10854,ENSG00000101981,ENST00000394090,,F9,0.44,probably_damaging,0.996,deleterious,0,4.16516,21.5,P00740_R188Q,R,Q,188,RQ,R188Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00342582,0,0.116828,0.968556
9599,P00740,N,S,268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,30837,470,ENSG00000101981,ENST00000394090,,F9,0.63,probably_damaging,0.98,tolerated,0.06,3.73809,18.98,P00740_N268S,N,S,268,NS,N268S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.000455204,0,0.0155234,0.994154
9627,P22304,W,S,291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,7460,197,ENSG00000010404,ENST00000541269,,IDS,0.86,probably_damaging,1,deleterious,0,4.3702,23.1,P22304_W291S,W,S,291,WS,W291S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,,,,,,,,,,,,0.00322427,0,0.109954,0.920731
9779,O60832,F,V,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,538,110,ENSG00000130826,ENST00000437719,,DKC1,0.1,benign,0.328,deleterious,0.01,3.50265,17.9,O60832_F22V,F,V,22,FV,F22V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,,,,,,,,,,,,0.0016325,0.00406504,0.0556715,0.909192
9780,O60832,I,T,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.07,,,,,,,,,545,117,ENSG00000130826,ENST00000437719,,DKC1,0.1,probably_damaging,0.928,deleterious,0,4.23239,22,O60832_I24T,I,T,24,IT,I24T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.00138627,0.00408163,0.0472746,0.915786
9781,O60832,K,E,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.07,,,,,,,,,547,119,ENSG00000130826,ENST00000437719,,DKC1,0.11,benign,0.024,tolerated,0.19,2.65604,14.84,O60832_K25E,K,E,25,KE,K25E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.00145758,0.00204499,0.0497064,0.915708
9783,O60832,E,K,27,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.05,,,,,,,,,553,125,ENSG00000130826,ENST00000437719,,DKC1,0.12,benign,0.336,deleterious,0.01,4.6612,25.7,O60832_E27K,E,K,27,EK,E27K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00211091,0.00410678,0.0719863,0.971019
9786,O60832,T,A,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,1004,576,ENSG00000130826,ENST00000437719,,DKC1,0.23,benign,0.243,deleterious,0.01,3.77868,19.18,O60832_T52A,T,A,52,TA,T52A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,0.00146822,0,0.0500693,0.912954
9787,O60832,T,I,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,1008,580,ENSG00000130826,ENST00000437719,,DKC1,0.23,benign,0.104,deleterious,0,3.13585,16.48,O60832_T53I,T,I,53,TI,T53I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00133975,0,0.0456881,0.913297
9788,O60832,H,Q,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,1012,584,ENSG00000130826,ENST00000437719,,DKC1,0.24,probably_damaging,0.958,deleterious,0,3.35521,17.3,O60832_H54Q,H,Q,54,HQ,H54Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,,,,,,,,,,,,0.00164629,0,0.0561419,0.927778
9796,O60832,M,T,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,2,2131,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.68,probably_damaging,0.919,deleterious,0,3.08804,16.31,O60832_M350T,M,T,350,MT,M350T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.71,-3.157,1.447,0.14,S,B,0.77,0.42,,,,0.00235949,0,0.0804633,0.760625
9797,O60832,M,I,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,1,2130,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.68,possibly_damaging,0.605,deleterious,0.04,3.90594,19.86,O60832_M350I,M,I,350,MI,M350I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.71,-2.846,1.136,0.14,S,B,0.07,0.42,,,,0.00235949,0,0.0804633,0.858847
9800,O60832,P,S,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.4,0.03,,,,,,,,,100,2030,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.75,possibly_damaging,0.829,deleterious,0,4.60882,25.2,O60832_P384S,P,S,384,PS,P384S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.115,-3.121,2.006,0.444,.,b,0.25,0.83,,,,0.00174564,0,0.0595301,0.783901
86,Q96JI7,V,I,270,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.41,0.03,0.01,0.01,0.01,0.004,,,0.01,0.01,6492,34680,ENSG00000104133,ENST00000535302,CCDS53939.1,SPG11,0.12,possibly_damaging,0.755,tolerated,0.06,3.31953,17.16,Q96JI7_V270I,V,I,270,VI,V270I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.705,-2.559,0.854,,,,,,22.651,22.651,86.04,,,,0.957594
125,Q6PI48,G,E,338,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.41,0.01,0.027,0.007,0.038,0.01,,0.02,,0.03,14880,19006,ENSG00000117593,ENST00000361951,CCDS1311.1,DARS2,0.52,benign,0.245,tolerated,0.08,2.6014,14.66,Q6PI48_G338E,G,E,338,GE,G338E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.645,-2.39,0.745,,,,,,25.791,25.791,86.82,0.00298082,0,0.117885,0.984643
303,P07686,K,R,121,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.41,0,0.199,0.259,0.169,0.21,0.17,0.23,0.28,0.18,4184,460,ENSG00000049860,ENST00000261416,CCDS4022.1,HEXB,0.22,benign,0,tolerated,0.65,-0.078595,3.616,P07686_K121R,K,R,121,KR,K121R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-2.403,-2.655,0.252,,,,,,25.122,25.122,86.33,0.00289807,0,0.114613,1.02023
372,O75445,D,V,644,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.41,0.03,0.061,0.015,0.084,0.04,,0.05,0.004,0.08,134077,115374,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.42,benign,0.207,tolerated,0.11,2.63086,14.76,O75445_D644V,D,V,644,DV,D644V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,,,,0.933866
82,P21912,S,P,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,0.01,0.003,0.013,0.01,,0.01,0.002,0.02,17076,53,ENSG00000117118,ENST00000375499,CCDS176.1,SDHB,0.58,benign,0,tolerated,0.65,1.1874,9.827,P21912_S163P,S,P,163,SP,S163P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-2.162,-2.411,0.249,0.632,T,A,0.25,0.17,45.409,45.409,83.57,0.00501618,0,0.171062,0.95122
225,Q9NR50,Q,P,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,0,0,0,,,,,,45034,924,ENSG00000070785,ENST00000360403,CCDS517.1,EIF2B3,0.3,benign,0.007,tolerated,0.48,0.088646,4.478,Q9NR50_Q136P,Q,P,136,QP,Q136P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-2.239,-2.079,-0.16,,,,,,37.762,37.762,76.33,0.00272842,0,0.0930447,1.01262
395,P43235,A,V,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,9096,3020,ENSG00000143387,ENST00000271651,CCDS969.1,CTSK,0.84,probably_damaging,0.999,deleterious,0,4.4655,23.9,P43235_A277V,A,V,277,AV,A277V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.508,-3.226,1.718,,E,B,0.44,-0.8,6.153,,86.02,0.00416232,0,0.141944,0.792876
540,Q5T7V8,E,X,148,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0,,,,,,,,,453,145,ENSG00000120370,ENST00000367762,CCDS53428.1,GORAB,0.6,,,,,1.47403,10.87,Q5T7V8_E148X,E,X,148,EX,E148X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
634,P08603,C,Y,959,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,3804,375,ENSG00000000971,ENST00000367429,CCDS1385.1,CFH,0.78,probably_damaging,0.99,deleterious,0,3.73655,18.97,P08603_C959Y,C,Y,959,CY,C959Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.128,-2.492,1.364,,,,,-0.9,13.459,13.459,42.4,0.000533433,0,0.0181912,0.724086
763,Q99698,E,K,2810,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,3418,73540,ENSG00000143669,ENST00000389793,CCDS31062.1,LYST,0.74,benign,0.33,deleterious,0.02,3.7316,18.95,Q99698_E2810K,E,K,2810,EK,E2810K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.353,-3.041,1.688,,,,,,6.53,,86.08,,,,0.91639
823,O60494,P,L,1297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,0,0,0,,,,,,88672,217196,ENSG00000107611,ENST00000377833,CCDS7113.1,CUBN,0.36,probably_damaging,1,deleterious,0,4.45209,23.7,O60494_P1297L,P,L,1297,PL,P1297L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.906,-3.439,2.533,0.534,T,A,1.07,-0.83,,,,,,,0.584855
880,Q6ZVD7,E,D,608,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,0.165,0.058,0.215,0.14,0.1,0.24,0.03,0.21,57813,7440,ENSG00000165730,ENST00000298596,CCDS41535.1,STOX1,0.61,benign,0,tolerated,0.95,-2.84719,0,Q6ZVD7_E608D,E,D,608,ED,E608D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-2.51,-1.783,-0.727,,,,,,35.139,35.139,88.57,0.00099657,0,0.0339851,1.03173
984,P60484,Q,X,214,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.04,,,,,,,,,5659,3452,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.53,,,,,15.5742,49,P60484_Q214X,Q,X,214,QX,Q214X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00299289,0,0.102064,0.955443
1350,P19544,C,G,428,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,24875,3681,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.83,probably_damaging,0.989,deleterious,0,4.65805,25.6,P19544_C428G,C,G,428,CG,C428G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,,,,,,,,,,,,0.0197306,0,0.672852,0.932062
1377,P55895,R,G,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,448,97,ENSG00000175097,ENST00000311485,CCDS7903.1,RAG2,0.07,possibly_damaging,0.897,deleterious,0,3.65435,18.58,P55895_R39G,R,G,39,RG,R39G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.184,-3.175,1.991,,,,,,,,,0.000752321,0,0.0256557,0.814781
1689,P14679,N,K,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,50480,67809,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.72,probably_damaging,0.999,deleterious,0,3.90165,19.84,P14679_N382K,N,K,382,NK,N382K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-0.943,-3.432,2.489,,,,,,1.916,,52.36,0.00113011,0,0.038539,0.842424
1690,P14679,D,N,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,50481,67808,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.72,probably_damaging,0.998,deleterious,0,5.18159,32,P14679_D383N,D,N,383,DN,D383N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.812,-3.422,2.61,,,,,,0.751,,52.36,0.000850416,0,0.0290009,0.863168
1702,Q13614,Q,X,410,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.01,,,,,,,,,71426,6316,ENSG00000087053,ENST00000444541,,MTMR2,0.74,,,,,8.00505,40,Q13614_Q410X,Q,X,410,QX,Q410X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1741,P35241,D,N,578,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.07,,,,,,,,,1635,51,ENSG00000137710,ENST00000343115,CCDS8343.1,RDX,0.99,probably_damaging,1,tolerated,0.08,4.49945,24.2,P35241_D578N,D,N,578,DN,D578N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.139,-2.958,1.819,,,,,,,,,0.0332003,0,1.1322,0.869212
1796,P07766,W,X,53,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.01,,,,,,,,,546,652,ENSG00000198851,ENST00000528600,,CD3E,0.26,,,,,3.05043,16.18,P07766_W53X,W,X,53,WX,W53X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
2193,Q3T906,W,X,894,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.04,,,,,,,,,66703,18739,ENSG00000111670,ENST00000299314,CCDS9088.1,GNPTAB,0.71,,,,,9.88415,43,Q3T906_W894X,W,X,894,WX,W894X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000943596,0,0.0321786,0.889966
2228,P00439,Y,C,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,61989,49,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.45,benign,0.382,deleterious,0,2.86046,15.53,P00439_Y204C,Y,C,204,YC,Y204C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.82,-4.837,3.017,0.829,H,A,0.25,-0.03,1.412,,90.71,0.00344722,0,0.117557,0.754893
2232,P00439,L,S,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,18087,10,ENSG00000171759,ENST00000551337,,PAH,0.72,probably_damaging,0.954,deleterious,0.05,4.5246,24.4,P00439_L98S,L,S,98,LS,L98S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.208,-3.346,2.138,,I,A,0.82,-0.22,,,,0.00265559,0,0.090561,0.619109
2256,P16615,R,Q,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,675,47,ENSG00000174437,ENST00000548169,,ATP2A2,0.05,possibly_damaging,0.798,deleterious,0.01,5.96278,36,P16615_R49Q,R,Q,49,RQ,R49Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00120443,0,0.0410734,0.919126
2274,Q06124,Q,R,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,31502,36508,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.13,probably_damaging,0.943,deleterious,0.01,4.92833,28.5,Q06124_Q79R,Q,R,79,QR,Q79R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.699,-2.94,1.241,0.591,H,A,0.56,0.22,,,,0.000957178,0,0.0326417,0.913075
2415,Q5TBB1,L,F,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,4861,8409,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.44,probably_damaging,0.998,deleterious,0.01,3.1574,16.56,Q5TBB1_L138F,L,F,138,LF,L138F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.349,-3.551,2.202,,H,A,0.03,0.01,1.631,,46.15,0.00430522,0,0.146817,0.729222
2577,O43405,A,T,103,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,1352,1571,ENSG00000100473,ENST00000556908,,COCH,0.53,benign,0.134,tolerated,0.15,2.91642,15.72,O43405_A103T,A,T,103,AT,A103T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000338606,0,0.0115472,0.995273
2578,O43405,M,T,363,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,1,467,ENSG00000100473,ENST00000382493,,COCH,0.91,probably_damaging,0.988,deleterious,0,4.04833,20.8,O43405_M363T,M,T,363,MT,M363T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.00227628,0,0.0776258,0.97546
2642,P32243,R,G,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,3309,225,ENSG00000165588,ENST00000554845,,OTX2,0.41,probably_damaging,0.999,deleterious,0.01,2.58298,14.6,P32243_R97G,R,G,97,RG,R97G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,,,,0.902988
2684,P49768,A,P,422,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,13008,129,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.91,probably_damaging,0.998,deleterious,0,3.55362,18.12,P49768_A422P,A,P,422,AP,A422P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00652242,0,0.222428,0.952511
2741,Q9NUW8,H,R,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,8261,40197,ENSG00000042088,ENST00000556063,,TDP1,0.48,probably_damaging,1,deleterious,0,3.87797,19.71,Q9NUW8_H134R,H,R,134,HR,H134R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.000492433,0,0.016793,1.00518
2805,P20807,R,X,110,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,24914,19788,ENSG00000092529,ENST00000397163,CCDS45245.1,CAPN3,0.13,,,,,6.20941,37,P20807_R110X,R,X,110,RX,R110X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00152773,0,0.0520987,0.900587
2829,P50440,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.41,0.01,,,,,,,,,383,3,ENSG00000171766,ENST00000558163,,GATM,,,,,,4.12064,21.2,P50440_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
2831,Q13621,V,F,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,3427,1153,ENSG00000074803,ENST00000330289,,SLC12A1,0.63,probably_damaging,0.987,deleterious,0,5.0644,31,Q13621_V272F,V,F,272,VF,V272F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.304,-3.578,2.274,,,,,,,,,0.000379233,0,0.0129326,0.81837
2832,Q13621,W,X,625,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.01,,,,,,,,,27377,4122,ENSG00000074803,ENST00000558405,CCDS10129.2,SLC12A1,0.57,,,,,7.31896,39,Q13621_W625X,W,X,625,WX,W625X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000160578,0,0.00547603,0.957995
2844,P35555,C,Y,1242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,161779,53167,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.43,probably_damaging,0.918,deleterious,0,4.82048,27.3,P35555_C1242Y,C,Y,1242,CY,C1242Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,,,,0.755919
2859,P35555,N,I,548,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.07,,,,,,,,,135595,79351,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.19,probably_damaging,0.998,deleterious,0,4.95523,28.8,P35555_N548I,N,I,548,NI,N548I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.26,-3.746,2.486,,,,,,,,,,,,0.758101
2922,P06865,L,R,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,4863,147,ENSG00000213614,ENST00000566304,,HEXA,0.26,probably_damaging,0.999,deleterious,0,4.09419,21.1,P06865_L138R,L,R,138,LR,L138R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.00196834,0,0.0671243,0.961063
4004,Q9Y4W6,E,K,700,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,39835,8474,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.88,probably_damaging,0.994,deleterious,0,5.51066,35,Q9Y4W6_E700K,E,K,700,EK,E700K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.00116427,0,0.0397039,0.848701
4005,Q9Y4W6,A,E,694,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,39818,8491,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.87,probably_damaging,0.993,deleterious,0.01,4.95001,28.8,Q9Y4W6_A694E,A,E,694,AE,A694E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.175,-3.175,2,0.078,H,A,1.04,-0.65,,,,0.001841,0,0.062782,0.616507
4021,Q01718,S,I,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,0,0,0,,,,,,351,673,ENSG00000185231,ENST00000327606,CCDS11869.1,MC2R,0.25,probably_damaging,0.995,deleterious,0,4.17823,21.6,Q01718_S74I,S,I,74,SI,S74I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-0.967,-3.915,2.948,,,,,,1.883,,48.48,0.00114698,0,0.0391143,0.826939
4098,Q7RTS9,N,Y,469,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,1344,93354,ENSG00000141627,ENST00000269445,CCDS11937.1,DYM,0.7,probably_damaging,0.999,deleterious,0,4.61761,25.2,Q7RTS9_N469Y,N,Y,469,NY,N469Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-1.26,-3.898,2.638,,,,,,,,,0.000856294,0,0.0292014,0.797835
4132,P32245,P,H,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,0,0,0,,,,,,1315,123,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.9,probably_damaging,1,deleterious,0,4.36157,23,P32245_P299H,P,H,299,PH,P299H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.341,-4.491,3.15,,,,,,1.294,,88.55,0.00202286,0,0.0689837,0.854559
4134,P32245,N,S,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,1240,198,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.83,possibly_damaging,0.843,tolerated,0.06,3.67311,18.67,P32245_N274S,N,S,274,NS,N274S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.427,-1.915,0.488,,,,,,13.513,13.513,61.45,0.00279931,0,0.0954622,1.00786
4135,P32245,C,Y,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,1231,207,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.82,probably_damaging,1,deleterious,0,4.03999,20.7,P32245_C271Y,C,Y,271,CY,C271Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,0.000418823,0,0.0142827,0.801021
4139,P32245,S,L,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,0,0,0,,,,,,799,639,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.38,probably_damaging,0.997,tolerated,0.13,4.2146,21.9,P32245_S127L,S,L,127,SL,S127L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.348,-3.094,1.746,,,,,,,,,0.00223326,0,0.0761587,0.875571
4698,P22888,C,R,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,175,3649,ENSG00000138039,ENST00000403273,,LHCGR,0.4,probably_damaging,0.984,deleterious,0.02,3.01354,16.05,P22888_C131R,C,R,131,CR,C131R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.471,-3.928,2.457,,,,,,1.273,,54.79,0.00141763,0,0.048344,0.825834
4730,Q8TCU4,W,X,3620,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,120141,715,ENSG00000116127,ENST00000409009,,ALMS1,0.88,,,,,15.8365,49,Q8TCU4_W3620X,W,X,3620,WX,W3620X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
4835,P61073,E,X,343,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,1343,264,ENSG00000121966,ENST00000241393,CCDS46420.1,CXCR4,0.97,,,,,5.13288,32,P61073_E343X,E,X,343,EX,E343X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00445997,0,0.152094,0.938689
4842,Q9H3L0,L,P,293,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,17514,224,ENSG00000168288,ENST00000422782,,MMADHC,0.89,probably_damaging,0.996,deleterious,0,3.63637,18.49,Q9H3L0_L293P,L,P,293,LP,L293P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.281,-3.794,2.513,,,,,,1.579,,59.46,0.0384936,0,1.31271,0.783397
4859,Q99250,L,V,1563,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,91108,3149,ENSG00000136531,ENST00000283256,CCDS33314.1,SCN2A,0.78,probably_damaging,0.997,deleterious,0,3.27613,17,Q99250_L1563V,L,V,1563,LV,L1563V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.208,-2.589,1.381,,,,,,,,,,,,0.87116
4860,Q14435,Q,X,330,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.01,,,,,,,,,12161,1944,ENSG00000115339,ENST00000409882,,GALNT3,0.89,,,,,4.36222,23,Q14435_Q330X,Q,X,330,QX,Q330X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
4993,P28331,L,V,245,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,12246,698,ENSG00000023228,ENST00000455934,CCDS56165.1,NDUFS1,0.33,probably_damaging,0.998,deleterious,0,4.01786,20.6,P28331_L245V,L,V,245,LV,L245V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,,,,,,,,,,,,,,,0.954012
5006,P31327,T,M,550,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,7270,78472,ENSG00000021826,ENST00000430249,CCDS46505.1,CPS1,0.37,probably_damaging,0.926,deleterious,0,3.07908,16.28,P31327_T550M,T,M,550,TM,T550M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,,,,0.953797
5460,P05067,L,V,681,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,6164,10307,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.91,probably_damaging,0.99,deleterious,0,4.72205,26.3,P05067_L681V,L,V,681,LV,L681V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,,,,,,,,,,,,0.00387178,0.011236,0.132036,0.970798
5510,P50747,D,N,571,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.07,,,,,,,,,15039,297,ENSG00000159267,ENST00000399120,CCDS13647.1,HLCS,0.79,probably_damaging,1,deleterious,0,5.68424,36,P50747_D571N,D,N,571,DN,D571N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.895,-3.098,2.203,,,,,,,,,0.000742075,0,0.0253063,0.849746
6061,Q9UQN3,R,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.04,,,,,,,,,687,178,ENSG00000083937,ENST00000471660,,CHMP2B,0.84,,,,,3.29559,17.07,Q9UQN3_R145X,R,X,145,RX,R145X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00583348,0,0.198934,0.922217
6078,P07225,N,S,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,60231,25415,ENSG00000184500,ENST00000394236,CCDS2923.1,PROS1,0.38,benign,0.393,deleterious,0.01,3.51532,17.96,P07225_N258S,N,S,258,NS,N258S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.079,-2.753,1.674,,,,,,,,,0.00047719,0,0.0162732,0.914035
6082,Q3SXY8,R,C,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,56449,3253,ENSG00000169379,ENST00000535334,CCDS54615.1,ARL13B,0.3,probably_damaging,0.999,deleterious,0,4.69866,26,Q3SXY8_R97C,R,C,97,RC,R97C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00042688,0,0.0145575,0.954625
6197,P98194,C,F,485,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,7999,18629,ENSG00000017260,ENST00000533801,CCDS56279.1,ATP2C1,0.51,probably_damaging,1,deleterious,0,4.26622,22.3,P98194_C485F,C,F,485,CF,C485F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,,,,0.932606
6233,P58418,L,P,38,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,13500,5,ENSG00000163646,ENST00000485607,,CLRN1,0.97,probably_damaging,1,,,3.21436,16.77,P58418_L38P,L,P,38,LP,L38P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.0050412,0,0.171915,0.944271
6293,P11168,R,X,365,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,27579,1387,ENSG00000163581,ENST00000314251,CCDS3215.1,SLC2A2,0.7,,,,,4.58694,24.9,P11168_R365X,R,X,365,RX,R365X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00182596,0,0.0622691,0.960194
6295,P11168,Q,X,287,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,2082,28,ENSG00000163581,ENST00000314251,CCDS3215.1,SLC2A2,0.55,,,,,4.07071,20.9,P11168_Q287X,Q,X,287,QX,Q287X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00260077,0,0.0886916,0.955443
6500,Q16585,R,L,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,3806,1006,ENSG00000163069,ENST00000381431,CCDS3488.1,SGCB,0.29,probably_damaging,0.911,deleterious,0.01,5.20372,33,Q16585_R91L,R,L,91,RL,R91L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.398,-3.094,1.696,,,,,,,,,0.00198898,0,0.0678285,0.880453
6501,Q16585,R,P,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,3806,1006,ENSG00000163069,ENST00000381431,CCDS3488.1,SGCB,0.29,probably_damaging,0.989,deleterious,0.01,4.94379,28.7,Q16585_R91P,R,P,91,RP,R91P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.398,-3.615,2.217,,,,,,,,,0.00198898,0,0.0678285,0.780256
6540,Q14108,Q,X,288,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.04,,,,,,,,,39328,12990,ENSG00000138760,ENST00000264896,CCDS3577.1,SCARB2,0.6,,,,,5.98299,37,Q14108_Q288X,Q,X,288,QX,Q288X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6554,Q96H96,S,N,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,23,5538,ENSG00000173085,ENST00000311461,,COQ2,0.29,probably_damaging,0.998,deleterious,0,4.36216,23,Q96H96_S96N,S,N,96,SN,S96N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.267,-2.075,0.808,,,,,,15.671,15.671,49.48,0.00532346,0,0.181541,0.955327
6566,P37840,A,T,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,7532,5797,ENSG00000145335,ENST00000506244,CCDS3634.1,SNCA,0.38,benign,0,tolerated,1,-0.77394,0.748,P37840_A53T,A,T,53,AT,A53T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.953,-1.557,-0.396,0.505,H,A,0.22,0.23,22.835,22.835,92.86,0.0119085,0.0229885,0.406103,1.00554
6598,Q9NPC6,I,M,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,0,0,0,0.002,,,,0.01,50359,1647,ENSG00000172399,ENST00000307128,CCDS3711.1,MYOZ2,0.93,,,deleterious,0.01,2.83841,15.45,Q9NPC6_I246M,I,M,246,IM,I246M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.742,-2.584,0.842,,,,,,6.135,6.135,88.26,0.00543146,0,0.185224,0.984263
6666,Q6ZWL3,W,X,340,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,395,5570,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.65,,,,,6.29467,37,Q6ZWL3_W340X,W,X,340,WX,W340X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00367494,0,0.125323,0.931205
6667,Q6ZWL3,S,P,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,396,5569,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.65,possibly_damaging,0.692,tolerated,0.1,2.31127,13.69,Q6ZWL3_S341P,S,P,341,SP,S341P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.732,-3.691,1.959,,,,,,2.281,,78.48,0.0050689,0,0.17286,0.89997
6773,P55809,V,M,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,73,93084,ENSG00000083720,ENST00000509987,,OXCT1,0.1,possibly_damaging,0.762,deleterious,0.01,3.67256,18.66,P55809_V35M,V,M,35,VM,V35M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,,,,0.960968
6816,P07686,P,L,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,0,0,0.001,0.001,0.002,,,0.003,513,2033,ENSG00000049860,ENST00000511181,,HEXB,0.58,possibly_damaging,0.636,deleterious,0.01,3.72189,18.9,P07686_P192L,P,L,192,PL,P192L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00313097,0,0.106773,0.957943
6828,P15848,C,R,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,16630,153101,ENSG00000113273,ENST00000264914,CCDS4043.1,ARSB,0.22,probably_damaging,1,tolerated,0.53,2.67227,14.9,P15848_C117R,C,R,117,CR,C117R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.351,-3.898,2.547,0.029,T,A,1.66,-0.22,1.285,,32.46,0.00317508,0,0.108277,0.558141
6942,P00995,L,R,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,99,3859,ENSG00000164266,ENST00000510027,,SPINK1,0.22,probably_damaging,0.984,deleterious,0,1.26349,10.12,P00995_L14R,L,R,14,LR,L14R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.076,-3.877,2.801,,,,,,1.414,,77.22,0.0112503,0,0.383659,0.802066
6943,P00995,L,P,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,99,3859,ENSG00000164266,ENST00000510027,,SPINK1,0.22,probably_damaging,0.984,deleterious,0,1.14042,9.647,P00995_L14P,L,P,14,LP,L14P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.076,-4.006,2.93,,,,,,1.145,,77.22,0.0112503,0,0.383659,0.797786
6945,Q9NQ38,R,X,790,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,0,0,0,,,,,,56060,3898,ENSG00000133710,ENST00000256084,CCDS43382.1,SPINK5,0.74,,,,,7.54317,39,Q9NQ38_R790X,R,X,790,RX,R790X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7007,Q96L73,S,X,334,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.01,,,,,,,,,74605,37,ENSG00000165671,ENST00000361032,,NSD1,0.13,,,,,2.23246,13.42,Q96L73_S334X,S,X,334,SX,S334X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
7088,Q8N0V5,R,Q,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.07,,,,,,,,,204,357,ENSG00000111846,ENST00000495262,CCDS34338.1,GCNT2,0.57,probably_damaging,0.942,deleterious,0.01,3.62965,18.46,Q8N0V5_R228Q,R,Q,228,RQ,R228Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.331,-3.476,2.145,,,,,,1.417,,26.62,0.0020972,0,0.0715187,0.877747
7163,Q9Y253,E,X,306,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,17522,671,ENSG00000170734,ENST00000372226,,POLH,0.74,,,,,6.1899,37,Q9Y253_E306X,E,X,306,EX,E306X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00116025,0,0.0395669,0.910457
7171,Q13950,R,W,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,15554,109171,ENSG00000124813,ENST00000359524,CCDS4913.1,RUNX2,0.42,probably_damaging,0.957,deleterious,0,2.95233,15.84,Q13950_R211W,R,W,211,RW,R211W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000649504,0,0.0221494,0.987856
7172,Q13950,R,Q,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,15555,109170,ENSG00000124813,ENST00000359524,CCDS4913.1,RUNX2,0.42,benign,0.05,deleterious,0,3.08355,16.3,Q13950_R211Q,R,Q,211,RQ,R211Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000649504,0,0.0221494,0.995654
7200,P08F94,S,F,1664,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,62792,303970,ENSG00000170927,ENST00000340994,CCDS4936.1,PKHD1,0.49,possibly_damaging,0.83,tolerated,0.05,2.16704,13.2,P08F94_S1664F,S,F,1664,SF,S1664F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.569,-2.522,0.953,,,,,,23.474,23.474,62.4,,,,0.883293
7202,P08F94,T,M,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,0,0,0,0.001,,,,0.001,4410,362352,ENSG00000170927,ENST00000340994,CCDS4936.1,PKHD1,0.01,probably_damaging,0.999,deleterious,0,4.1273,21.3,P08F94_T36M,T,M,36,TM,T36M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.129,-4.381,3.252,,,,,,1.031,,57.04,,,,0.781956
7203,Q9UPZ9,R,Q,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,0,0,0,,,,,,45672,14788,ENSG00000112144,ENST00000350082,CCDS4949.1,ICK,0.43,probably_damaging,0.999,deleterious,0,5.61103,36,Q9UPZ9_R272Q,R,Q,272,RQ,R272Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.000153392,0,0.00523097,0.891811
7211,Q9NRA2,H,R,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,5987,3244,ENSG00000119899,ENST00000355773,CCDS4981.1,SLC17A5,0.37,probably_damaging,0.944,deleterious,0,4.71421,26.2,Q9NRA2_H183R,H,R,183,HR,H183R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.467,-3.986,2.519,,,,,,3.078,,36.57,0.00256253,0,0.0873874,0.855323
7262,P24043,R,X,2383,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.05,,,,,,,,,581247,52126,ENSG00000196569,ENST00000421865,CCDS5138.1,LAMA2,0.76,,,,,14.4159,48,P24043_R2383X,R,X,2383,RX,R2383X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7284,O00628,A,V,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,47324,43991,ENSG00000112357,ENST00000318471,CCDS5180.1,PEX7,0.67,benign,0.083,deleterious,0.01,3.57213,18.2,O00628_A218V,A,V,218,AV,A218V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-2.109,-3.424,1.315,,,,,,15.003,15.003,32.51,0.0050685,0,0.172846,0.919433
7285,O00628,R,X,232,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.04,,,,,,,,,47365,43950,ENSG00000112357,ENST00000318471,CCDS5180.1,PEX7,0.72,,,,,6.72921,38,O00628_R232X,R,X,232,RX,R232X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00623935,0,0.212775,0.910853
7293,O95278,R,H,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,0,0,0,,,,,,35909,366,ENSG00000112425,ENST00000367519,CCDS5206.1,EPM2A,0.52,probably_damaging,0.99,deleterious,0,5.50255,35,O95278_R171H,R,H,171,RH,R171H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.00525214,0,0.179109,0.774377
7308,#N/A,L,P,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,23651,1986,ENSG00000185068,ENST00000438073,CCDS5256.1,GTF2H5,0.3,probably_damaging,0.993,deleterious,0,3.65702,18.59,#N/A_L21P,L,P,21,LP,L21P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
7325,O60260,K,N,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,754266,428291,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.42,possibly_damaging,0.679,deleterious,0,3.63171,18.47,O60260_K183N,K,N,183,KN,K183N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,,,,,,,,,,,,0.00227454,0,0.0775666,0.96617
7375,Q8TA86,H,L,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,4337,1251,ENSG00000164610,ENST00000297157,CCDS5440.1,RP9,0.62,benign,0.268,deleterious,0.01,3.47543,17.79,Q8TA86_H137L,H,L,137,HL,H137L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.433,-3.319,1.886,,,,,,,,,0.00813819,0,0.277529,0.82619
7377,Q3SYG4,Q,X,355,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,206925,269146,ENSG00000122507,ENST00000396127,CCDS47572.1,BBS9,0.42,,,,,9.92571,43,Q3SYG4_Q355X,Q,X,355,QX,Q355X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000686403,0,0.0234077,0.98231
7459,Q9Y3A5,R,C,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,3111,119,ENSG00000126524,ENST00000246868,CCDS5537.1,SBDS,0.68,probably_damaging,0.997,deleterious,0,3.45468,17.7,Q9Y3A5_R169C,R,C,169,RC,R169C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.109,-5.3,4.191,0.709,.,B,1.66,0,1.028,,56.4,0.00480943,0,0.164011,0.602349
7635,P13569,H,Y,919,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,123624,63353,ENSG00000001626,ENST00000426809,,CFTR,0.64,probably_damaging,1,deleterious,0,4.17533,21.6,P13569_H919Y,H,Y,919,HY,H919Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.0011224,0,0.0382761,0.92415
7861,Q13443,R,X,164,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,0,0,0,,,,,,262,4416,ENSG00000168615,ENST00000487273,CCDS6112.1,ADAM9,0.2,,,,,5.44196,35,Q13443_R164X,R,X,164,RX,R164X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7872,P56715,T,I,373,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,0.012,0.003,0.016,0.01,,0.02,,0.01,8933,5835,ENSG00000104237,ENST00000220676,CCDS6160.1,RP1,0.17,benign,0.07,deleterious,0,-0.161159,3.213,P56715_T373I,T,I,373,TI,T373I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.769,-2.539,0.77,,,,,,19.458,19.458,71.66,,,,1.05115
7914,P00918,P,H,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,16745,174,ENSG00000104267,ENST00000285379,CCDS6239.1,CA2,0.91,possibly_damaging,0.697,tolerated,0.08,4.7399,26.5,P00918_P236H,P,H,236,PH,P236H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.716,-4.65,2.934,0.835,.,B,0.35,1.28,1.462,,82.31,0.00749843,0,0.255712,0.800186
7922,Q9Y620,N,S,593,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,0.004,0.02,,,,45313,168,ENSG00000197275,ENST00000336148,CCDS6262.1,RAD54B,0.65,probably_damaging,0.999,deleterious,0,4.59578,25,Q9Y620_N593S,N,S,593,NS,N593S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.079,-2.753,1.674,,,,,,,,,0.000469606,0,0.0160145,0.914035
7953,Q7LG56,E,K,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,98,6142,ENSG00000048392,ENST00000395912,CCDS55267.1,RRM2B,0.47,probably_damaging,0.996,deleterious,0,5.46057,35,Q7LG56_E142K,E,K,142,EK,E142K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
8078,Q9Y223,R,Q,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,15292,16916,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.37,probably_damaging,0.988,tolerated,0.1,4.6566,25.6,Q9Y223_R266Q,R,Q,266,RQ,R266Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.735,-3.383,1.648,,,,,,1.258,,57.24,0.00115463,0,0.0393751,0.943273
8079,Q9Y223,R,W,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,15291,16917,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.37,probably_damaging,0.997,deleterious,0,3.70069,18.8,Q9Y223_R266W,R,W,266,RW,R266W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.735,-5.183,3.448,,,,,,0.21,,57.24,0.00115463,0,0.0393751,0.826117
8112,Q16595,I,F,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,18606,7784,ENSG00000165060,ENST00000484259,,FXN,0.48,benign,0.017,deleterious,0,3.6844,18.72,Q16595_I52F,I,F,52,IF,I52F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,,,,,,,,,,,,0.00430018,0,0.146645,0.97382
8113,Q16595,W,R,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,18609,7781,ENSG00000165060,ENST00000484259,,FXN,0.49,probably_damaging,0.956,deleterious,0,4.00826,20.5,Q16595_W53R,W,R,53,WR,W53R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00474873,0.00636943,0.161941,0.942084
8182,P36897,G,V,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.07,,,,,,,,,4752,18,ENSG00000106799,ENST00000550253,,TGFBR1,0.24,possibly_damaging,0.891,deleterious,0,5.38745,34,P36897_G105V,G,V,105,GV,G105V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00173664,0,0.0592231,0.907217
8186,P36897,D,G,331,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,587,713,ENSG00000106799,ENST00000550253,,TGFBR1,0.76,probably_damaging,1,deleterious,0,4.69437,26,P36897_D331G,D,G,331,DG,D331G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00138785,0,0.0473287,0.906372
8187,P36897,R,W,418,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,21336,90,ENSG00000106799,ENST00000550253,,TGFBR1,0.96,probably_damaging,1,deleterious,0,3.41472,17.54,P36897_R418W,R,W,418,RW,R418W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00212318,0,0.0724049,0.969087
8188,P36897,R,Q,418,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,21337,89,ENSG00000106799,ENST00000550253,,TGFBR1,0.96,probably_damaging,0.994,deleterious,0,4.90757,28.3,P36897_R418Q,R,Q,418,RQ,R418Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00212318,0,0.0724049,0.976146
8398,P56377,Q,X,36,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.05,,,,,,,,,84,20355,ENSG00000182287,ENST00000380291,,AP1S2,0.23,,,,,7.4049,39,P56377_Q36X,Q,X,36,QX,Q36X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8418,P08559,F,L,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,42,86,ENSG00000131828,ENST00000540249,CCDS55382.1,PDHA1,0.48,possibly_damaging,0.824,deleterious,0,4.09583,21.1,P08559_F174L,F,L,174,FL,F174L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.000744264,0,0.0253809,0.984679
8443,P78562,C,Y,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.04,,,,,,,,,9063,201067,ENSG00000102174,ENST00000379374,CCDS14204.1,PHEX,0.11,probably_damaging,0.999,deleterious,0,4.37186,23.1,P78562_C85Y,C,Y,85,CY,C85Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,0.000249996,0,0.00852538,0.801021
8456,Q9NZN1,W,X,487,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.04,,,,,,,,,1165845,632,ENSG00000169306,ENST00000378993,CCDS14218.1,IL1RAPL1,0.7,,,,,8.93984,41,Q9NZN1_W487X,W,X,487,WX,W487X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
8503,P11532,W,X,1063,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,663687,99993,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.29,,,,,10.3385,43,P11532_W1063X,W,X,1063,WX,W1063X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
8542,P00480,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.41,0.04,,,,,,,,,92,50971,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0,benign,0.033,deleterious,0,2.31909,13.71,P00480_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.402,-2.04,0.638,,,,,,12.701,12.701,47.18,0.00107139,0,0.0365365,0.99802
8543,P00480,M,L,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.41,0.04,,,,,,,,,92,50971,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0,benign,0.085,deleterious,0,3.02166,16.08,P00480_M1L,M,L,1,ML,M1L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-1.402,-2.402,1,,,,,,6.132,,47.18,0.00107139,0,0.0365365,0.971936
8645,P00480,K,X,144,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.01,,,,,,,,,46,2350,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.41,,,,,7.44077,39,P00480_K144X,K,X,144,KX,K144X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00656272,0,0.223802,0.924239
8676,P00480,I,F,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,39,2266,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.49,probably_damaging,0.986,deleterious,0.01,4.81843,27.3,P00480_I172F,I,F,172,IF,I172F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.676,-4.201,2.525,,H,A,0.1,-1.02,2.335,,57.34,0.00673659,0.00549451,0.229732,0.613319
8677,P00480,I,M,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,41,2264,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.49,possibly_damaging,0.805,deleterious,0.04,3.41222,17.53,P00480_I172M,I,M,172,IM,I172M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.676,-3.401,1.725,,H,A,0.07,-1.02,7.687,7.687,57.34,0.00673659,0.00549451,0.229732,0.783585
8751,P00480,T,K,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.03,,,,,,,,,7535,2992,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.7,possibly_damaging,0.67,deleterious,0.02,3.97864,20.4,P00480_T247K,T,K,247,TK,T247K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.705,-3.5,1.795,0.23,E,B,2.12,0.28,11.036,11.036,93.5,0.00491653,0,0.167664,0.86876
8802,P00480,K,X,331,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.01,,,,,,,,,10622,96,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.94,,,,,6.30321,37,P00480_K331X,K,X,331,KX,K331X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.0189856,0.0434783,0.647449,0.938547
8807,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.41,0.01,,,,,,,,,10638,112,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,4.0656,20.9,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8815,P00480,T,K,343,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,68500,406,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.97,benign,0.013,tolerated,0.16,3.00132,16.01,P00480_T343K,T,K,343,TK,T343K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-2.115,-2.451,0.336,0.173,.,b,2.12,-0.48,16.123,16.123,88.98,0.0311107,0.0909091,1.06094,0.951114
8821,P00480,F,C,354,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,68533,373,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,1,probably_damaging,0.985,deleterious,0,3.67942,18.7,P00480_F354C,F,C,354,FC,F354C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.36,-4.84,3.48,0.195,.,?,0.12,0.07,1.102,,53.67,,,,0.584978
8978,P10275,R,K,609,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,117178,3697,ENSG00000169083,ENST00000504326,,AR,0.95,probably_damaging,0.967,deleterious,0,5.33971,34,P10275_R609K,R,K,609,RK,R609K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,,,,,,,,,,,,0.000765615,0,0.026109,1.00105
9072,P46100,R,X,2348,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.04,,,,,,,,,265393,15932,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.96,,,,,15.1788,49,P46100_R2348X,R,X,2348,RX,R2348X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9184,P06280,N,S,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,141,38,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.63,possibly_damaging,0.522,deleterious,0,4.38424,23.2,P06280_N272S,N,S,272,NS,N272S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.138,-2.88,1.742,0.15,S,b,0.34,-0.76,3.424,,65.5,0.00335961,0,0.11457,0.775797
9192,P83881,,,,Intergenic,DOWNSTREAM,1,downstream,pathogenic,0.41,0.01,,,,,,,,,1107,839,ENSG00000241343,ENST00000392994,,RPL36A,,,,,,-1.35498,0.028,P83881_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9223,P05543,P,L,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.01,,,,,,,,,1681,88,ENSG00000123561,ENST00000327674,CCDS14518.1,SERPINA7,0.92,benign,0.103,deleterious,0.04,1.50699,10.99,P05543_P383L,P,L,383,PL,P383L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.65,-3.214,1.564,0.722,.,B,1.07,-0.82,7.485,,77.35,0.00961578,0.03125,0.327918,0.891465
9246,P29400,C,X,29,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0,,,,,,,,,99809,29285,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.02,,,,,5.95492,36,P29400_C29X,C,X,29,CX,C29X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000149483,0,0.00509769,0.981692
9259,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.41,0,,,,,,,,,133690,123970,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.09987,21.1,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9279,P29400,E,X,287,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0,,,,,,,,,140824,116836,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.17,,,,,8.16181,40,P29400_E287X,E,X,287,EX,E287X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000117946,0,0.00402221,0.98778
9280,P29400,G,V,289,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,140831,116829,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.17,,,deleterious,0,3.70906,18.84,P29400_G289V,G,V,289,GV,G289V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.252,-3.536,2.284,,,,,,0.178,,5.1,0.000229761,0,0.00783532,0.773839
9281,P29400,G,V,292,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0,,,,,,,,,140840,116820,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.17,,,deleterious,0,3.54096,18.07,P29400_G292V,G,V,292,GV,G292V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.172,-3.529,2.357,,,,,,0.169,,5.1,0.000194813,0,0.00664354,0.773518
9587,P00740,Q,X,181,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.01,,,,,,,,,20431,10876,ENSG00000101981,ENST00000394090,,F9,0.43,,,,,0.943741,8.847,P00740_Q181X,Q,X,181,QX,Q181X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00383384,0,0.130742,0.955443
9666,Q13496,R,C,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.07,,,,,,,,,77105,147,ENSG00000171100,ENST00000542741,,MTM1,0.35,probably_damaging,1,deleterious,0,5.30102,34,Q13496_R146C,R,C,146,RC,R146C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00143724,0,0.0490128,0.879238
9670,Q15738,E,X,151,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.03,,,,,,,,,31635,5016,ENSG00000147383,ENST00000440023,CCDS14717.1,NSDHL,0.4,,,,,6.12585,37,Q15738_E151X,E,X,151,EX,E151X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00493021,0,0.16813,0.938141
9777,O60832,Q,K,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,523,95,ENSG00000130826,ENST00000437719,,DKC1,0.07,benign,0.059,tolerated,0.06,1.60555,11.33,O60832_Q17K,Q,K,17,QK,Q17K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,,,,,,,,,,,,0.000395074,0,0.0134728,0.991743
9778,O60832,Q,E,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,523,95,ENSG00000130826,ENST00000437719,,DKC1,0.07,benign,0.059,tolerated,0.06,1.34229,10.41,O60832_Q17E,Q,E,17,QE,Q17E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,,,,,,,,,,,,0.000395074,0,0.0134728,1.00526
9782,O60832,P,R,26,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.41,0.05,,,,,,,,,551,123,ENSG00000130826,ENST00000437719,,DKC1,0.11,probably_damaging,0.981,deleterious,0,4.50466,24.2,O60832_P26R,P,R,26,PR,P26R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,0.00158357,0.00409836,0.0540028,0.900147
9830,Q05066,Y,X,4,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.41,0.08,,,,,,,,,12,488,ENSG00000184895,ENST00000534739,,SRY,0.02,,,,,1.78547,11.93,Q05066_Y4X,Y,X,4,YX,Y4X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00237449,0.01,0.080975,0.953982
27,Q9HC77,S,A,879,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0.01,0.106,0.042,0.138,0.07,0.002,0.12,0.02,0.15,17434,22363,ENSG00000151849,ENST00000381884,CCDS9310.1,CENPJ,0.66,benign,0.002,tolerated,0.17,0.479749,6.604,Q9HC77_S879A,S,A,879,SA,S879A,Polar,Hydrophobic,5.68,6,0.32,105,89,-16,89,88.6,-0.4,99,-1.917,-2.021,0.104,,,,,,22.623,22.623,78.62,0.000370137,0,0.0146381,1.00543
82,Q96QU1,N,S,615,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0.01,0.031,0.037,0.028,0.03,,0.01,0.05,0.03,668307,138303,ENSG00000150275,ENST00000395433,CCDS44401.1,PCDH15,0.32,probably_damaging,0.963,tolerated,0.2,3.20637,16.74,Q96QU1_N615S,N,S,615,NS,N615S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,,,,0.952307
93,Q8WXG9,I,V,2526,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0.01,0.021,0.066,0,0.02,,0.01,0.08,0.003,272,65651,ENSG00000164199,ENST00000405460,CCDS47246.1,GPR98,0.4,benign,0.013,tolerated,0.34,1.18416,9.815,Q8WXG9_I2526V,I,V,2526,IV,I2526V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.248,-1.863,0.615,,,,,,23.798,23.798,88.07,,,,0.986235
94,Q8WXG9,N,S,2345,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0.03,0.291,0.208,0.329,0.35,0.43,0.48,0.21,0.32,133887,471535,ENSG00000164199,ENST00000405460,CCDS47246.1,GPR98,0.37,probably_damaging,0.998,tolerated,0.14,4.49883,24.1,Q8WXG9_N2345S,N,S,2345,NS,N2345S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.338,-1.913,0.575,,,,,,0.907,0.907,0.57,,,,0.906693
95,Q8WXG9,N,S,2584,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0.01,0.731,0.915,0.645,0.79,0.82,0.78,0.96,0.68,447,65476,ENSG00000164199,ENST00000405460,CCDS47246.1,GPR98,0.41,benign,0,tolerated,1,0.703903,7.754,Q8WXG9_N2584S,N,S,2584,NS,N2584S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-2.61,-1.62,-0.99,,,,,,20.653,20.653,88.61,,,,1.01402
101,Q8TDI8,M,T,486,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0,0.019,0.004,0.026,0.01,,0.01,0.004,0.02,205,43819,ENSG00000165091,ENST00000297784,CCDS6643.1,TMC1,0.64,benign,0.011,tolerated,0.2,1.78476,11.93,Q8TDI8_M486T,M,T,486,MT,M486T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.963,-2.684,-0.279,,,,,,13.234,13.234,11.58,0.00224969,0,0.0889704,0.944444
124,Q86YC2,L,I,169,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0,,,,,,,,,1895,6,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.14,possibly_damaging,0.793,tolerated,0.06,2.19366,13.29,Q86YC2_L169I,L,I,169,LI,L169I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,-1.373,-2.623,1.25,,,,,,11.089,4.327,71.42,0.00037374,0,0.0147806,1.07347
167,P57727,V,I,137,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0.01,0.081,0.11,0.066,0.12,0.23,0.06,0.11,0.06,444,8099,ENSG00000160183,ENST00000380399,,TMPRSS3,0.25,benign,0.007,tolerated,0.14,0.478115,6.595,P57727_V137I,V,I,137,VI,V137I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,0.00282185,0,0.111598,0.976856
316,P02774,D,E,432,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0.03,0.428,0.174,0.559,0.39,0.29,0.52,0.1,0.58,1862,10878,ENSG00000145321,ENST00000273951,CCDS3550.1,GC,0.91,benign,0.001,tolerated,0.53,0.724733,7.855,P02774_D432E,D,E,432,DE,D432E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.875,-1.886,0.011,0.957,T,A,0.29,0.97,24.88,24.88,83.76,0.00573231,0,0.226701,0.976693
333,P02768,R,G,138,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0.01,,,,,,,,,97,85,ENSG00000163631,ENST00000509063,,ALB,0.23,benign,0.014,deleterious,0.04,1.55113,11.14,P02768_R138G,R,G,138,RG,R138G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-3.319,-3.765,0.446,0.829,.,B,0.91,0.64,6.086,,91.79,0.00176441,0,0.0697788,0.931498
371,O75445,D,N,3144,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0.03,0.038,0.052,0.03,0.03,,0.02,0.04,0.03,606260,194243,ENSG00000042781,ENST00000366943,,USH2A,0.6,benign,0.079,tolerated,0.14,3.16279,16.58,O75445_D3144N,D,N,3144,DN,D3144N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
380,O75445,M,V,3868,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.42,0,0.218,0.19,0.233,0.19,0.1,0.22,0.23,0.23,681913,118590,ENSG00000042781,ENST00000366943,,USH2A,0.74,benign,0.001,tolerated,0.34,0.270032,5.46,O75445_M3868V,M,V,3868,MV,M3868V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,,,,0.948715
14,Q99497,A,S,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,4,5701,ENSG00000116288,ENST00000377488,CCDS93.1,PARK7,0.21,benign,0,tolerated,0.77,-0.224473,2.915,Q99497_A39S,A,S,39,AS,A39S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.646,-2.017,0.371,1.049,S,A,0.27,1.5,18.501,18.501,92.59,0.0101645,0,0.34663,0.992751
19,O60333,Q,L,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,26352,48156,ENSG00000054523,ENST00000377081,,KIF1B,0.05,probably_damaging,0.999,deleterious,0,5.01682,29.6,O60333_Q98L,Q,L,98,QL,Q98L,Polar,Hydrophobic,6.24,9.71,3.47,146,131,-15,143.8,166.7,22.9,113,-1.699,-3.04,1.341,0.127,S,B,1.19,-0.87,,,,5.85e-05,0,0.00199468,0.703545
21,Q13148,N,S,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,0.001,,,,0.001,85,650,ENSG00000120948,ENST00000439080,,TARDBP,0.51,benign,0.001,tolerated,0.09,2.21093,13.35,Q13148_N151S,N,S,151,NS,N151S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00198739,0,0.067774,0.974646
131,P04066,Q,X,427,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0,,,,,,,,,22458,760,ENSG00000179163,ENST00000374479,CCDS244.2,FUCA1,0.92,,,,,3.49033,17.85,P04066_Q427X,Q,X,427,QX,Q427X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00768083,0,0.261932,0.918687
132,P04066,L,R,410,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,22190,1028,ENSG00000179163,ENST00000374479,CCDS244.2,FUCA1,0.88,probably_damaging,0.99,deleterious,0,4.29372,22.5,P04066_L410R,L,R,410,LR,L410R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.572,-3.838,2.266,,,,,,11.296,11.296,71.46,0.00529199,0,0.180468,0.932786
227,Q9NR50,V,I,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,5554,11045,ENSG00000070785,ENST00000360403,CCDS517.1,EIF2B3,0.1,benign,0.231,tolerated,0.18,3.34456,17.26,Q9NR50_V46I,V,I,46,VI,V46I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.419,-2.06,0.641,,,,,,25.17,25.17,92.7,0.00256621,0,0.0875132,1.01026
307,P78363,R,X,300,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,,,,,,,,,2253,125,ENSG00000198691,ENST00000536513,,ABCA4,0.55,,,,,5.6322,36,P78363_R300X,R,X,300,RX,R300X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
347,P01222,G,R,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,144,778,ENSG00000134200,ENST00000256592,CCDS880.1,TSHB,0.36,probably_damaging,1,deleterious,0,4.39095,23.2,P01222_G49R,G,R,49,GR,G49R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.999,-3.673,2.674,,,,,,3.558,,71.74,0.00372439,0.011236,0.127009,0.913525
543,P31513,A,T,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,3044,3932,ENSG00000007933,ENST00000392085,CCDS1292.1,FMO3,0.1,possibly_damaging,0.623,tolerated,0.16,3.78022,19.19,P31513_A52T,A,T,52,AT,A52T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.36,-3.3,1.94,,,,,,2.294,,77.82,0.00237075,0,0.0808475,0.941226
604,Q9NP85,V,M,180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0,0,0,,,,,,18707,6688,ENSG00000116218,ENST00000367615,CCDS1331.1,NPHS2,0.47,possibly_damaging,0.706,deleterious,0.01,4.46318,23.8,Q9NP85_V180M,V,M,180,VM,V180M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.201,-3.807,2.606,,,,,,,,,0.00233648,0,0.0796788,0.81716
622,P19878,A,V,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,15977,18880,ENSG00000116701,ENST00000367535,CCDS1356.1,NCF2,0.24,probably_damaging,0.987,deleterious,0,4.14858,21.4,P19878_A128V,A,V,128,AV,A128V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.154,-3.076,1.922,,H,A,0.44,-0.39,0.486,,19.77,0.000907341,0,0.0309422,0.753583
626,P47712,R,H,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,127229,32456,ENSG00000116711,ENST00000442353,,PLA2G4A,0.62,probably_damaging,1,tolerated,0.08,4.89558,28.2,P47712_R425H,R,H,425,RH,R425H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00177462,0,0.0605182,0.963261
756,O15228,R,H,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.07,,,,,,,,,779,736,ENSG00000116906,ENST00000366646,,GNPAT,0.24,probably_damaging,1,deleterious,0,5.07418,31,O15228_R150H,R,H,150,RH,R150H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
757,Q9GZT9,H,R,374,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,49755,4449,ENSG00000135766,ENST00000366641,CCDS1595.1,EGLN1,0.88,probably_damaging,1,deleterious,0,5.20584,33,Q9GZT9_H374R,H,R,374,HR,H374R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.124,-3.339,2.215,0.035,E,B,1.03,-1.46,,,,0.0027632,0,0.0942307,0.554814
758,Q9GZT9,R,H,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,49746,4458,ENSG00000135766,ENST00000366641,CCDS1595.1,EGLN1,0.87,probably_damaging,0.931,deleterious,0,5.922,36,Q9GZT9_R371H,R,H,371,RH,R371H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,0.325,T,A,1.03,-0.92,,,,0.00492798,0,0.168054,0.561936
773,Q99698,R,X,50,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,36606,862,ENSG00000143669,ENST00000389793,CCDS31062.1,LYST,0.01,,,,,5.44105,35,Q99698_R50X,R,X,50,RX,R50X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
778,Q99707,R,X,139,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,16962,511,ENSG00000116984,ENST00000366576,,MTR,0.17,,,,,4.42226,23.5,Q99707_R139X,R,X,139,RX,R139X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00148361,0,0.0505942,0.900587
792,P07954,E,Q,362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,15696,6463,ENSG00000091483,ENST00000366560,CCDS1617.1,FH,0.71,probably_damaging,1,deleterious,0,4.86352,27.8,P07954_E362Q,E,Q,362,EQ,E362Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-1.255,-2.96,1.705,0.118,S,B,0.4,2.43,,,,0.000143397,0,0.00489013,0.842425
794,P07954,A,T,308,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,15534,6625,ENSG00000091483,ENST00000366560,CCDS1617.1,FH,0.6,probably_damaging,0.956,deleterious,0,5.13828,32,P07954_A308T,A,T,308,AT,A308T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.175,-2.932,1.757,0.01,.,B,0.22,-0.46,,,,0.000912473,0,0.0311172,0.774853
818,O14832,P,S,10,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,0.159,0.122,0.177,0.11,0.02,0.11,0.1,0.17,1314,3008,ENSG00000107537,ENST00000396920,,PHYH,0.03,benign,0.061,deleterious,0.04,0.938836,8.826,O14832_P10S,P,S,10,PS,P10S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.00254205,0,0.0866892,0.976805
952,P36894,C,R,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,60965,19434,ENSG00000107779,ENST00000224764,CCDS7378.1,BMPR1A,0.23,probably_damaging,0.997,deleterious,0,3.90359,19.85,P36894_C124R,C,R,124,CR,C124R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.6,-3.84,2.24,,,,,,,,,,,,0.761218
986,P60484,D,G,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,5774,3337,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.63,probably_damaging,0.99,deleterious,0.01,4.74828,26.5,P60484_D252G,D,G,252,DG,D252G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.264,-2.815,1.551,,,,,,,,,0.00109797,0,0.0374431,0.836453
998,P38571,Y,X,43,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,2056,20667,ENSG00000107798,ENST00000456827,CCDS7401.1,LIPA,0.11,,,,,7.27384,38,P38571_Y43X,Y,X,43,YX,Y43X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
1011,Q9P212,R,X,493,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,43349,193166,ENSG00000138193,ENST00000260766,CCDS41552.1,PLCE1,0.21,,,,,11.2984,45,Q9P212_R493X,R,X,493,RX,R493X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1080,P21802,S,C,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,1479,17,ENSG00000066468,ENST00000336553,,FGFR2,0.39,possibly_damaging,0.793,deleterious,0,4.1951,21.8,P21802_S262C,S,C,262,SC,S262C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.000513018,0,0.017495,0.989891
1081,P21802,S,C,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,1467,29,ENSG00000066468,ENST00000336553,,FGFR2,0.39,probably_damaging,0.928,deleterious,0,4.48473,24,P21802_S258C,S,C,258,SC,S258C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.000373231,0,0.012728,0.989891
1108,P04181,R,K,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,322,831,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.44,probably_damaging,1,deleterious,0,5.43827,35,P04181_R133K,R,K,133,RK,R133K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,,,,,,,,,,,,0.00348418,0,0.118818,0.974645
1122,P04181,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.42,0.03,,,,,,,,,2268,3276,ENSG00000065154,ENST00000368845,CCDS7639.1,OAT,0,probably_damaging,0.922,deleterious,0,4.16283,21.5,P04181_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.71,-2.846,1.136,,,,,,,,,0.000785116,0,0.0267741,0.940816
1257,Q86WG5,R,X,487,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.04,,,,,,,,,126,11914,ENSG00000133812,ENST00000256190,CCDS31427.1,SBF2,0.26,,,,,8.80528,41,Q86WG5_R487X,R,X,487,RX,R487X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1315,Q75V66,C,R,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,57617,32565,ENSG00000171714,ENST00000324559,CCDS31444.1,ANO5,0.39,probably_damaging,0.96,deleterious,0,3.94285,20.2,Q75V66_C356R,C,R,356,CR,C356R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,0.000237546,0,0.00810081,0.785818
1316,Q75V66,C,G,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,57617,32565,ENSG00000171714,ENST00000324559,CCDS31444.1,ANO5,0.39,probably_damaging,0.971,deleterious,0,4.026,20.7,Q75V66_C356G,C,G,356,CG,C356G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.194,-3.4,2.206,,,,,,,,,0.000237546,0,0.00810081,0.817717
1329,P26367,R,T,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,55,27,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.57,probably_damaging,0.994,deleterious,0,5.21555,33,P26367_R242T,R,T,242,RT,R242T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.582,-3.103,1.521,,,,,,,,,0.00187791,0,0.0640405,0.890705
1330,P26367,R,X,240,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,48,20,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.57,,,,,7.65638,39,P26367_R240X,R,X,240,RX,R240X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00158364,0,0.0540054,0.900587
1374,P55895,G,R,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,0,0,0,,,,,,616,72,ENSG00000175097,ENST00000311485,CCDS7903.1,RAG2,0.18,probably_damaging,0.999,deleterious,0,4.13356,21.3,P55895_G95R,G,R,95,GR,G95R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.000440621,0,0.0150261,0.78896
1644,Q9H061,R,X,55,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,,,,0.001,0.002,,,,6118,2371,ENSG00000171202,ENST00000304511,CCDS8268.1,TMEM126A,0.28,,,,,4.72679,26.3,Q9H061_R55X,R,X,55,RX,R55X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1646,Q9ULV1,S,F,497,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,4126,142,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.93,probably_damaging,0.999,deleterious,0,4.05885,20.9,Q9ULV1_S497F,S,F,497,SF,S497F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.468,-3.878,2.41,,,,,,1.153,,50.47,0.00151404,0,0.0516319,0.830061
1647,Q9ULV1,G,R,492,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,4110,126,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.92,probably_damaging,0.995,deleterious,0,4.14922,21.4,Q9ULV1_G492R,G,R,492,GR,G492R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.00138214,0,0.0471337,0.704606
1648,Q9ULV1,G,D,488,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,4099,115,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.91,probably_damaging,0.999,deleterious,0,4.25161,22.2,Q9ULV1_G488D,G,D,488,GD,G488D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.00157041,0,0.0535544,0.720605
1649,Q9ULV1,T,P,445,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,3969,16,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.83,probably_damaging,0.999,deleterious,0,3.63944,18.51,Q9ULV1_T445P,T,P,445,TP,T445P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.149,-3.432,2.283,,,,,,,,,0.00142707,0,0.048666,0.747118
1650,Q9ULV1,R,P,417,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,3886,99,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.78,probably_damaging,1,deleterious,0,3.89382,19.79,Q9ULV1_R417P,R,P,417,RP,R417P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.281,-3.657,2.376,,,,,,,,,0.00103983,0,0.0354602,0.7179
1651,Q9ULV1,R,Q,417,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,3886,99,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.78,probably_damaging,0.998,deleterious,0,4.58498,24.9,Q9ULV1_R417Q,R,Q,417,RQ,R417Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.00103983,0,0.0354602,0.821166
1691,P14679,R,S,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,0,0,0,,,,,,1030,10512,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.76,benign,0.271,deleterious,0,2.38295,13.93,P14679_R403S,R,S,403,RS,R403S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.34,-2.879,1.539,,,,,,17.71,17.71,49.72,0.00287398,0,0.0980085,0.911891
1707,Q9Y210,K,X,796,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.04,,,,,,,,,1904,33,ENSG00000137672,ENST00000532133,,TRPC6,0.93,,,,,7.10781,38,Q9Y210_K796X,K,X,796,KX,K796X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00323301,0,0.110252,0.955443
1719,Q8NCM8,M,L,1991,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,68077,301601,ENSG00000187240,ENST00000398093,CCDS44717.1,DYNC2H1,0.46,benign,0.003,tolerated,0.8,1.09994,9.488,Q8NCM8_M1991L,M,L,1991,ML,M1991L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-1.636,-1.732,0.096,,,,,,8.553,8.553,22.78,,,,0.9461
1756,O14521,M,V,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,5964,333,ENSG00000204370,ENST00000528182,,SDHD,0.85,benign,0,tolerated,0.15,2.52087,14.39,O14521_M112V,M,V,112,MV,M112V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,0.0145681,0,0.496801,0.949409
1764,Q03393,D,N,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,0.001,0.002,,,,2806,194,ENSG00000150787,ENST00000524931,,PTS,0.36,probably_damaging,0.941,deleterious,0.01,5.34277,34,Q03393_D28N,D,N,28,DN,D28N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00967512,0.00854701,0.329941,0.94354
1886,Q9GZV9,M,T,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,7107,4395,ENSG00000118972,ENST00000237837,CCDS8526.1,FGF23,0.38,probably_damaging,0.999,deleterious,0,3.60259,18.34,Q9GZV9_M96T,M,T,96,MT,M96T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.406,-3.239,1.833,,E,B,0.77,-0.88,,,,0.00271653,0,0.0926393,0.670229
1962,Q93070,D,N,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,0.356,0.279,0.395,0.28,0.09,0.41,0.28,0.36,588,145,ENSG00000111339,ENST00000420600,,ART4,0.91,benign,0.002,tolerated,1,-1.81258,0.009,Q93070_D248N,D,N,248,DN,D248N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
1963,Q93070,Q,X,131,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,237,496,ENSG00000111339,ENST00000420600,,ART4,0.48,,,,,1.81751,12.04,Q93070_Q131X,Q,X,131,QX,Q131X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1974,O60706,A,T,1513,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,135518,3756,ENSG00000069431,ENST00000261200,CCDS8693.1,ABCC9,0.98,probably_damaging,0.904,tolerated,0.57,3.72882,18.94,O60706_A1513T,A,T,1513,AT,A1513T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.337,-1.923,0.586,,,,,,20.67,20.67,84.05,0.00263608,0,0.0898958,1.01057
1990,Q99959,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.42,0.04,0,0,0,,,,,,19258,107,ENSG00000057294,ENST00000340811,CCDS31771.1,PKP2,,,,,,3.79472,19.27,Q99959_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
2081,P49281,G,V,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,352,155,ENSG00000110911,ENST00000541174,CCDS8805.1,SLC11A2,0.38,benign,0.168,tolerated,0.14,3.65159,18.57,P49281_G212V,G,V,212,GV,G212V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.15,-3.484,2.334,,,,,,3.004,,72.89,0.00283958,0,0.0968356,0.852636
2126,P04264,E,Q,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,165,1959,ENSG00000167768,ENST00000252244,CCDS8836.1,KRT1,0.48,probably_damaging,0.944,deleterious,0.01,3.86181,19.62,P04264_E311Q,E,Q,311,EQ,E311Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-1.275,-3.335,2.06,,,,,,2.319,,75.47,,,,0.866916
2170,P61626,D,H,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,1838,283,ENSG00000090382,ENST00000548839,,LYZ,0.82,probably_damaging,0.972,deleterious,0,1.6973,11.63,P61626_D85H,D,H,85,DH,D85H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.118,-4.227,3.109,0.189,.,A,0.58,-0.61,2.835,,88.51,0.00856799,0,0.292186,0.71046
2231,P00439,R,X,111,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,18125,21,ENSG00000171759,ENST00000551337,,PAH,0.82,,,,,5.98051,37,P00439_R111X,R,X,111,RX,R111X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00285375,0,0.0973189,0.951177
2233,P00439,S,R,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,18055,23,ENSG00000171759,ENST00000551337,,PAH,0.64,benign,0.107,tolerated,0.19,1.32141,10.33,P00439_S87R,S,R,87,SR,S87R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.717,-3.651,1.934,,,,,,3.814,,86.06,0.00286507,0,0.0977048,0.939401
2295,Q71F56,E,G,251,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,257493,61270,ENSG00000123066,ENST00000281928,CCDS9177.1,MED13L,0.11,,,tolerated,0.07,2.86688,15.55,Q71F56_E251G,E,G,251,EG,E251G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.504,-3.163,1.659,,,,,,3.175,,67.51,,,,0.857895
2391,O14788,M,K,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,32336,359,ENSG00000120659,ENST00000358545,CCDS9385.1,TNFSF11,0.52,probably_damaging,0.984,deleterious,0,3.78267,19.21,O14788_M126K,M,K,126,MK,M126K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,,,,,,,,,,,,,,,0.947097
2416,Q5TBB1,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.42,0.01,,,,,,,,,4886,8384,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,,,,,,2.12961,13.08,Q5TBB1_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
2485,P00491,R,X,63,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,1840,835,ENSG00000198805,ENST00000553591,,PNP,0.29,,,,,4.68137,25.9,P00491_R63X,R,X,63,RX,R63X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00235244,0,0.0802229,0.959768
2576,O43405,W,R,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,1346,1577,ENSG00000100473,ENST00000556908,,COCH,0.52,possibly_damaging,0.794,deleterious,0.01,4.41366,23.4,O43405_W101R,W,R,101,WR,W101R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.000331162,0,0.0112933,0.978382
2599,Q10469,H,R,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,1282,1238,ENSG00000168282,ENST00000305386,CCDS9690.1,MGAT2,0.59,probably_damaging,0.979,deleterious,0,3.72777,18.93,Q10469_H262R,H,R,262,HR,H262R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.124,-3.339,2.215,,,,,,,,,0.00297733,0,0.101533,0.814938
2608,Q8WXF7,S,Y,259,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,46,13727,ENSG00000198513,ENST00000354525,CCDS32077.1,ATL1,0.47,possibly_damaging,0.633,deleterious,0,2.60899,14.68,Q8WXF7_S259Y,S,Y,259,SY,S259Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.602,-3.132,1.53,0.008,H,A,0.48,-1.2,18.657,18.657,82.44,0.00214258,0,0.0730664,0.741252
2620,P06737,R,X,94,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,0,0,0,,,,,,6656,14564,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.11,,,,,8.17139,40,P06737_R94X,R,X,94,RX,R94X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000562688,0,0.0191888,0.977351
2685,P49768,P,Q,432,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,13039,98,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.93,probably_damaging,0.999,deleterious,0,5.14813,32,P49768_P432Q,P,Q,432,PQ,P432Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,,,,,,,,,,,,0.00564211,0,0.192408,0.952912
2705,P49770,P,S,291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,721,26,ENSG00000119718,ENST00000266126,CCDS9836.1,EIF2B2,0.83,benign,0.272,deleterious,0.01,4.03389,20.7,P49770_P291S,P,S,291,PS,P291S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.115,-3.121,2.006,,,,,,,,,0.00499595,0,0.170372,0.814205
2715,P16473,P,A,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,0,0,0,0.001,0.002,,,0.001,136892,16372,ENSG00000165409,ENST00000554435,CCDS55935.1,TSHR,0.59,benign,0.091,tolerated,0.44,1.39426,10.59,P16473_P162A,P,A,162,PA,P162A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-2.342,-3.037,0.695,0.504,T,A,0.52,-0.42,11.981,11.981,60.47,0.000966048,0,0.0329442,0.928054
2782,Q9UHW9,R,X,675,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,,,,,,,,,1348,2930,ENSG00000140199,ENST00000560611,,SLC12A6,0.59,,,,,8.46682,40,Q9UHW9_R675X,R,X,675,RX,R675X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,7.65e-05,0,0.00260754,0.984992
2834,P35555,R,X,2776,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,,,,,,,,,5437,79,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.97,,,,,17.5473,51,P35555_R2776X,R,X,2776,RX,R2776X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2841,P35555,R,C,1530,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,106,37333,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.53,probably_damaging,0.984,deleterious,0,4.04098,20.7,P35555_R1530C,R,C,1530,RC,R1530C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,,,,0.719785
2843,P35555,C,S,1249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,161800,53146,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.44,benign,0.067,deleterious,0.01,4.10973,21.2,P35555_C1249S,C,S,1249,CS,C1249S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.412,-3.121,1.709,,,,,,,,,,,,0.847697
2875,P11150,T,M,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,0.001,0,0.002,0.003,,0.003,,0.01,131558,460,ENSG00000166035,ENST00000299022,CCDS10166.1,LIPC,0.81,probably_damaging,0.996,deleterious,0.03,3.15135,16.54,P11150_T405M,T,M,405,TM,T405M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.195,-4.459,3.264,,,,,,0.694,,65.53,0.00247245,0,0.0843157,0.847818
2944,P13804,T,M,6,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0,0,0,,,,,,9411,12,ENSG00000140374,ENST00000560726,,ETFA,0.08,probably_damaging,0.997,deleterious,0,4.90181,28.2,P13804_T6M,T,M,6,TM,T6M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00143312,0.0030581,0.0488724,0.914857
2946,P13804,G,R,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,56,4668,ENSG00000140374,ENST00000433983,CCDS45311.1,ETFA,0.24,probably_damaging,0.996,deleterious,0,5.16981,32,P13804_G67R,G,R,67,GR,G67R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00474842,0,0.161931,0.935164
3073,O15305,E,K,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.08,,,,,,,,,3582,35,ENSG00000140650,ENST00000268261,CCDS10536.1,PMM2,0.57,benign,0.292,tolerated,0.15,3.44471,17.66,O15305_E139K,E,K,139,EK,E139K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.545,-2.967,1.422,0.695,H,A,1.3,-0.16,4.446,,79.67,0.00680028,0,0.231903,0.896252
3085,Q92889,R,P,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,78,172,ENSG00000175595,ENST00000311895,CCDS32390.1,ERCC4,0.17,probably_damaging,0.996,deleterious,0,4.92679,28.5,Q92889_R153P,R,P,153,RP,R153P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.281,-3.657,2.376,,,,,,,,,0.000428041,0,0.0145971,0.792919
3295,Q96QK1,D,N,620,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,861,625,ENSG00000069329,ENST00000299138,CCDS10721.1,VPS35,0.78,possibly_damaging,0.801,deleterious,0,5.70769,36,Q96QK1_D620N,D,N,620,DN,D620N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.264,-2.905,1.641,0.463,.,B,0.14,1.04,,,,0.0015539,0,0.0529913,0.902392
3301,Q93100,Y,H,975,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,65,3287,ENSG00000102893,ENST00000299167,,PHKB,0.89,benign,0.263,tolerated,0.34,3.06399,16.23,Q93100_Y975H,Y,H,975,YH,Y975H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-2.116,-3.089,0.973,,,,,,13.507,13.507,6.95,0.00169424,0,0.057777,0.844421
3442,P43034,G,S,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,22,11628,ENSG00000007168,ENST00000397195,CCDS32528.1,PAFAH1B1,0.4,probably_damaging,1,deleterious,0.03,5.64084,36,P43034_G162S,G,S,162,GS,G162S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.161,-2.764,1.603,0.069,S,l,0.02,-0.7,,,,0.00242864,0,0.0828215,0.752853
3452,P45381,C,R,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.07,,,,,,,,,7496,5732,ENSG00000108381,ENST00000263080,CCDS11028.1,ASPA,0.49,probably_damaging,0.987,deleterious,0,2.57102,14.56,P45381_C152R,C,R,152,CR,C152R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.466,-3.998,2.532,0.067,E,B,1.66,-0.32,1.566,,72.2,0.00553514,0,0.188759,0.54184
3599,P21359,W,X,1204,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0,,,,,,,,,28780,16,ENSG00000196712,ENST00000456735,,NF1,0.48,,,,,7.89875,39,P21359_W1204X,W,X,1204,WX,W1204X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
3603,P21359,L,P,2088,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,6421,114,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.74,probably_damaging,0.982,deleterious,0,4.05203,20.8,P21359_L2088P,L,P,2088,LP,L2088P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,,,,,,,,,,,,0.76393
3607,O00623,K,X,231,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0,,,,,,,,,2385,1376,ENSG00000108733,ENST00000225873,CCDS11296.1,PEX12,0.64,,,,,8.44328,40,O00623_K231X,K,X,231,KX,K231X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00562885,0,0.191955,0.933611
3620,P13645,L,Q,442,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,405,1448,ENSG00000186395,ENST00000269576,CCDS11377.1,KRT10,0.76,probably_damaging,0.998,deleterious,0,5.00199,29.4,P13645_L442Q,L,Q,442,LQ,L442Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-0.972,-3.98,3.008,,,,,,,,,0.000107191,0,0.00365542,0.818005
3621,P13645,K,E,439,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,415,1458,ENSG00000186395,ENST00000269576,CCDS11377.1,KRT10,0.75,probably_damaging,0.987,deleterious,0,5.2317,33,P13645_K439E,K,E,439,KE,K439E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.012,-2.846,1.834,,,,,,,,,0.000123303,0,0.00420489,0.915444
3955,Q15067,G,C,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,21609,10888,ENSG00000161533,ENST00000537812,CCDS54168.1,ACOX1,0.23,probably_damaging,1,deleterious,0,4.98009,29.1,Q15067_G140C,G,C,140,GC,G140C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,,,,,,,,,,,,,,,0.933565
4003,Q9Y4W6,R,Q,702,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,39842,8467,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.88,probably_damaging,0.963,deleterious,0.04,5.36628,34,Q9Y4W6_R702Q,R,Q,702,RQ,R702Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.329,H,A,0.56,-0.19,,,,0.00187503,0,0.0639423,0.824251
4069,P02766,S,I,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,3251,722,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.48,possibly_damaging,0.683,deleterious,0,3.18361,16.65,P02766_S70I,S,I,70,SI,S70I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-2.325,-4.31,1.985,0.144,.,b,0.75,-0.47,14.855,,90.48,0.00873768,0,0.297973,0.705583
4071,P02766,G,E,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,3260,713,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.5,probably_damaging,0.951,deleterious,0.01,4.42196,23.5,P02766_G73E,G,E,73,GE,G73E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.63,-3.006,2.376,,S,l,0.75,-0.63,18.996,18.996,63.95,0.00222962,0,0.0760346,0.631681
4072,P02766,L,P,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,3266,707,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.51,probably_damaging,0.98,deleterious,0.01,3.69397,18.77,P02766_L75P,L,P,75,LP,L75P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-2.014,-4.465,2.451,,E,B,1.07,-0.52,1.585,,70.07,0.0125442,0,0.427782,0.590724
4084,P02766,E,Q,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,3367,606,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.74,benign,0.336,tolerated,0.2,2.10363,12.99,P02766_E109Q,E,Q,109,EQ,E109Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-2.117,-2.954,0.837,0.198,S,A,0.4,-0.75,14.553,14.553,72.11,0.00876564,0,0.298926,0.893865
4137,P32245,A,T,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0.001,0,0.001,,,,,,942,496,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.53,benign,0.022,tolerated,1,-0.05637,3.727,P32245_A175T,A,T,175,AT,A175T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.668,-1.798,0.13,,,,,,23.036,23.036,93.67,0.00462545,0,0.157738,1.00593
4138,P32245,I,V,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0,0.001,0,0.002,,,0.01,,927,511,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.51,possibly_damaging,0.679,deleterious,0.02,3.39419,17.46,P32245_I170V,I,V,170,IV,I170V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.523,-2.343,0.82,,,,,,8.429,,87.95,0.00293426,0,0.100064,0.987682
4140,P32245,I,S,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,724,714,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.31,probably_damaging,0.984,deleterious,0.03,3.99554,20.5,P32245_I102S,I,S,102,IS,I102S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-1.54,-3.451,1.911,,,,,,2.426,,75,0.00290162,0,0.0989513,0.914402
4141,P32245,N,D,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,708,730,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.29,probably_damaging,0.99,deleterious,0,4.23167,22,P32245_N97D,N,D,97,ND,N97D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.468,-3.05,1.582,,,,,,1.665,,91.57,0.00166098,0,0.0566429,0.966179
4531,Q14693,E,X,221,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,27078,10280,ENSG00000134324,ENST00000396099,,LPIN1,0.24,,,,,6.46299,37,Q14693_E221X,E,X,221,EX,E221X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
4533,Q14693,R,X,531,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,3437,5274,ENSG00000134324,ENST00000396097,,LPIN1,0.86,,,,,9.82441,43,Q14693_R531X,R,X,531,RX,R531X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4546,P04114,R,Q,3527,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,0.001,0,0.001,,,,,,37786,4859,ENSG00000084674,ENST00000233242,CCDS1703.1,APOB,0.77,probably_damaging,0.969,deleterious,0,3.89658,19.81,P04114_R3527Q,R,Q,3527,RQ,R3527Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.2,-2.49,1.29,,,,,,4.44,4.44,26.82,,,,0.859841
4552,P04114,Y,X,1200,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,28905,13740,ENSG00000084674,ENST00000233242,CCDS1703.1,APOB,0.26,,,,,6.59315,37,P04114_Y1200X,Y,X,1200,YX,Y1200X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
4658,Q07837,L,P,678,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,2689,185,ENSG00000138079,ENST00000260649,CCDS1819.1,SLC3A1,0.99,possibly_damaging,0.845,deleterious,0,4.35961,23,Q07837_L678P,L,P,678,LP,L678P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.489,-4.133,2.644,,,,,,0.92,,83.07,0.013362,0,0.455671,0.826961
4669,P43246,Q,X,344,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,13253,66839,ENSG00000095002,ENST00000406134,,MSH2,0.37,,,,,7.3487,39,P43246_Q344X,Q,X,344,QX,Q344X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00153368,0,0.0523018,0.904853
4672,P43246,Q,X,601,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,71936,8156,ENSG00000095002,ENST00000406134,,MSH2,0.65,,,,,7.10572,38,P43246_Q601X,Q,X,601,QX,Q601X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00132354,0,0.0451356,0.904853
4673,P43246,P,L,622,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,72000,8092,ENSG00000095002,ENST00000406134,,MSH2,0.68,probably_damaging,1,deleterious,0,5.25936,33,P43246_P622L,P,L,622,PL,P622L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.573,-3.843,3.27,,,,,,3.098,,48.29,0.000330537,0,0.011272,0.837686
4712,Q92968,I,T,326,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,30813,725,ENSG00000162928,ENST00000295030,CCDS1866.1,PEX13,0.81,benign,0.286,deleterious,0,3.60677,18.36,Q92968_I326T,I,T,326,IT,I326T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.708,-3.127,1.419,,,,,,4.608,,92.31,0.00276374,0,0.0942493,0.967766
4851,Q04771,R,S,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,36613,33068,ENSG00000115170,ENST00000409283,CCDS2206.1,ACVR1,0.51,probably_damaging,0.97,deleterious,0,3.7909,19.25,Q04771_R258S,R,S,258,RS,R258S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.398,-3.121,1.723,0.385,.,B,0.93,0.48,,,,0.000329514,0,0.0112371,0.900159
4865,Q14435,R,X,162,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,0,0.001,0,0.001,,,0.002,,1475,215,ENSG00000115339,ENST00000412248,,GALNT3,0.35,,,,,8.90521,41,Q14435_R162X,R,X,162,RX,R162X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4889,Q15858,S,X,324,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,20010,4802,ENSG00000169432,ENST00000452182,,SCN9A,0.6,,,,,6.03877,37,Q15858_S324X,S,X,324,SX,S324X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
4947,P02461,G,V,1077,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,32592,5782,ENSG00000168542,ENST00000304636,CCDS2297.1,COL3A1,0.73,probably_damaging,0.998,deleterious,0,4.05465,20.8,P02461_G1077V,G,V,1077,GV,G1077V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.054,-3.434,2.38,,,,,0,0.473,,10.37,0.000495814,0,0.0169083,0.670271
4973,Q96Q42,Q,X,715,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,104,3101,ENSG00000003393,ENST00000264276,CCDS42800.1,ALS2,0.43,,,,,11.3679,45,Q96Q42_Q715X,Q,X,715,QX,Q715X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
5012,Q86UK0,R,H,1196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,49862,49603,ENSG00000144452,ENST00000389661,CCDS33373.1,ABCA12,0.53,probably_damaging,0.987,deleterious,0,5.43877,35,Q86UK0_R1196H,R,H,1196,RH,R1196H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
5100,Q9BZV2,T,A,422,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,29784,1027,ENSG00000135917,ENST00000258403,CCDS2468.1,SLC19A3,0.85,probably_damaging,0.979,deleterious,0,4.38584,23.2,Q9BZV2_T422A,T,A,422,TA,T422A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-0.966,-2.728,1.762,,,,,,,,,0.00193616,0,0.0660269,0.894137
5101,Q9BZV2,E,Q,320,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,4221,562,ENSG00000135917,ENST00000258403,CCDS2468.1,SLC19A3,0.65,probably_damaging,0.982,deleterious,0,5.06324,31,Q9BZV2_E320Q,E,Q,320,EQ,E320Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-0.972,-3.099,2.127,,,,,,,,,0.0019349,0,0.0659842,0.844212
5266,Q9BZ23,T,A,234,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0,0,0,,,,,,694,2820,ENSG00000125779,ENST00000316562,CCDS13071.2,PANK2,0.41,benign,0.013,deleterious,0.04,3.00027,16.01,Q9BZ23_T234A,T,A,234,TA,T234A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.297,-2.623,1.326,0.489,.,B,0.22,1.13,7.993,,73.16,0.00247453,0,0.0843864,0.91579
5289,Q9NPJ1,A,S,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,0.004,0.002,0.006,0.003,,0.01,,0.01,19132,7607,ENSG00000125863,ENST00000399054,CCDS13111.1,MKKS,0.42,possibly_damaging,0.82,deleterious,0.01,4.8633,27.8,Q9NPJ1_A242S,A,S,242,AS,A242S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.229,-3.108,1.879,,,,,,1.884,,58.25,0.00230528,0,0.0786147,0.92293
5449,P98073,R,X,857,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.04,,,,,,,,,122518,12023,ENSG00000154646,ENST00000284885,CCDS13571.1,TMPRSS15,0.84,,,,,4.53326,24.5,P98073_R857X,R,X,857,RX,R857X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5450,P98073,S,X,712,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,0.001,0,0.002,0.001,,,,0.003,90682,43859,ENSG00000154646,ENST00000284885,CCDS13571.1,TMPRSS15,0.7,,,,,7.9466,40,P98073_S712X,S,X,712,SX,S712X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
5583,P05546,R,H,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,0.001,0,0.002,0.002,,,,0.01,754,7298,ENSG00000099937,ENST00000406799,CCDS13783.1,SERPIND1,0.42,possibly_damaging,0.883,deleterious,0.03,5.74303,36,P05546_R208H,R,H,208,RH,R208H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,0.192,H,A,1.03,0.52,,,,0.00348924,0,0.11899,0.706603
5597,P35240,E,X,182,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,,,,,,,,,51622,28295,ENSG00000186575,ENST00000403435,,NF2,0.32,,,,,8.2772,40,P35240_E182X,E,X,182,EX,E182X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00200295,0,0.0683049,0.96137
5744,Q96SW2,R,X,418,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,,,,,,,,,3254,50,ENSG00000113851,ENST00000432408,CCDS54547.1,CRBN,0.95,,,,,5.12388,32,Q96SW2_R418X,R,X,418,RX,R418X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5750,Q8NBK3,C,R,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,90908,14229,ENSG00000144455,ENST00000458465,,SUMF1,0.84,possibly_damaging,0.79,deleterious,0,3.84751,19.54,Q8NBK3_C204R,C,R,204,CR,C204R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00320019,0,0.109133,0.940732
5786,Q9BXW9,R,W,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,16566,56596,ENSG00000144554,ENST00000419585,CCDS33696.1,FANCD2,0.21,probably_damaging,1,deleterious,0,3.25486,16.92,Q9BXW9_R302W,R,W,302,RW,R302W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,,,,0.757477
5805,P37231,P,A,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0.091,0.026,0.124,0.07,0.04,0.07,0.01,0.12,57,28209,ENSG00000132170,ENST00000287820,CCDS2609.1,PPARG,0.02,benign,0,deleterious,0.02,2.18153,13.25,P37231_P12A,P,A,12,PA,P12A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-2.229,-2.022,-0.207,,,,,,22.771,22.771,93.47,0.000448024,0,0.0152785,1.02338
5816,P04049,D,N,365,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,145,1415,ENSG00000132155,ENST00000432427,,RAF1,0.69,probably_damaging,0.993,deleterious,0,5.40176,34,P04049_D365N,D,N,365,DN,D365N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00138569,0,0.0472551,0.925198
6064,P28069,E,X,175,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,16441,125,ENSG00000064835,ENST00000561167,,POU1F1,0.81,,,,,4.39206,23.2,P28069_E175X,E,X,175,EX,E175X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00339507,0,0.115779,0.953272
6090,P36551,K,E,404,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0,0,0,,,,,,4025,66,ENSG00000080819,ENST00000264193,CCDS2932.1,CPOX,0.89,probably_damaging,0.986,tolerated,0.22,4.35393,22.9,P36551_K404E,K,E,404,KE,K404E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.166,-2.767,1.601,,,,,,,,,,,,0.859359
6102,Q93099,G,R,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0,0,0,,,,,,148,8326,ENSG00000113924,ENST00000494453,,HGD,0.53,probably_damaging,0.981,deleterious,0,4.85683,27.7,Q93099_G77R,G,R,77,GR,G77R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00423904,0,0.14456,0.945499
6211,P02787,K,E,646,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,4360,1671,ENSG00000091513,ENST00000402696,CCDS3080.1,TF,0.93,possibly_damaging,0.618,deleterious,0.03,3.15677,16.56,P02787_K646E,K,E,646,KE,K646E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.257,-3.001,1.744,0.66,S,B,1.3,-0.45,3.115,,62.75,0.00381943,0,0.13025,0.759364
6212,P02787,G,E,671,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,0.004,0.001,0.005,0.003,,0.003,,0.01,4436,1595,ENSG00000091513,ENST00000402696,CCDS3080.1,TF,0.96,probably_damaging,1,deleterious,0,3.98718,20.4,P02787_G671E,G,E,671,GE,G671E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.763,-3.521,2.758,0.345,.,g,0.75,0.25,,,,0.00181092,0,0.061756,0.702098
6323,Q13144,E,K,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,680,323,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.11,possibly_damaging,0.846,deleterious,0.03,5.55274,35,Q13144_E81K,E,K,81,EK,E81K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.305,-1.949,0.644,,,,,,18.715,18.715,67.55,0.00130153,0,0.0443848,1.00815
6385,Q9H3D4,S,P,486,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,101073,3348,ENSG00000073282,ENST00000354600,CCDS46978.1,TP63,0.83,possibly_damaging,0.775,deleterious,0,4.39524,23.3,Q9H3D4_S486P,S,P,486,SP,S486P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.00232567,0,0.07931,0.974634
6397,Q9Y5I7,S,F,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,20305,1584,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.77,probably_damaging,0.987,deleterious,0,4.41509,23.4,Q9Y5I7_S235F,S,F,235,SF,S235F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.146,-3.884,2.738,,,,,,,,,0.00448886,0,0.153079,0.734862
6398,Q9Y5I7,G,R,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,20316,1573,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.78,probably_damaging,0.958,deleterious,0,4.49329,24.1,Q9Y5I7_G239R,G,R,239,GR,G239R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.145,-3.708,2.563,,,,,,2.665,,84.26,0.0034108,0,0.116315,0.855802
6402,O60313,G,E,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,764,69,ENSG00000198836,ENST00000361715,,OPA1,0.33,probably_damaging,1,deleterious,0,4.52371,24.4,O60313_G319E,G,E,319,GE,G319E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,,,,,,,,,0.000420742,0,0.0143482,0.806888
6405,P18077,V,I,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.07,,,,,,,,,290,422,ENSG00000182899,ENST00000442341,,RPL35A,0.35,possibly_damaging,0.709,deleterious,0,4.90054,28.2,P18077_V33I,V,I,33,VI,V33I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.835,-2.748,0.913,,,,,,3.752,,84.55,0.00835077,0,0.284778,0.940216
6499,Q16585,M,K,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,3833,979,ENSG00000163069,ENST00000381431,CCDS3488.1,SGCB,0.31,possibly_damaging,0.72,deleterious,0,4.7878,27,Q16585_M100K,M,K,100,MK,M100K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.776,-3.337,1.561,,,,,,2.201,,88.36,0.00406865,0,0.138749,0.954411
6511,P10721,D,Y,812,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,3862,248,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.84,possibly_damaging,0.88,deleterious,0,4.97609,29.1,P10721_D812Y,D,Y,812,DY,D812Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.000490583,0,0.0167299,0.967496
6512,P10721,D,V,812,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,3863,247,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.84,possibly_damaging,0.892,deleterious,0,4.83111,27.4,P10721_D812V,D,V,812,DV,D812V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.000490583,0,0.0167299,0.979956
6514,P10721,E,K,835,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,78609,2484,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.86,probably_damaging,1,deleterious,0,4.45005,23.7,P10721_E835K,E,K,835,EK,E835K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.000914354,0,0.0311814,0.990526
6518,P30968,Y,C,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,8472,136,ENSG00000109163,ENST00000226413,CCDS3517.1,GNRHR,0.87,probably_damaging,1,deleterious,0,4.22527,22,P30968_Y284C,Y,C,284,YC,Y284C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,,,,,,,,,0.00686837,0,0.234226,0.70915
6519,P30968,R,Q,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0.002,0,0.002,0.001,,,,0.003,8538,202,ENSG00000109163,ENST00000226413,CCDS3517.1,GNRHR,0.8,probably_damaging,0.971,deleterious,0,5.47245,35,P30968_R262Q,R,Q,262,RQ,R262Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.00515534,0,0.175808,0.813489
6526,Q9NRM1,K,X,53,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,3138,14943,ENSG00000132464,ENST00000396073,CCDS3544.2,ENAM,0.05,,,,,7.65004,39,Q9NRM1_K53X,K,X,53,KX,K53X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
6529,Q9Y6R1,R,H,510,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,133675,580,ENSG00000080493,ENST00000340595,CCDS3549.1,SLC4A4,0.49,probably_damaging,1,deleterious,0,5.48672,35,Q9Y6R1_R510H,R,H,510,RH,R510H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
6533,P02768,R,X,138,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,0,0,0,,,,,,97,85,ENSG00000163631,ENST00000509063,,ALB,0.23,,,,,2.64175,14.79,P02768_R138X,R,X,138,RX,R138X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00176441,0,0.0601702,0.939024
6560,Q13316,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.42,0,,,,,,,,,4304,601,ENSG00000152592,ENST00000339673,CCDS3623.1,DMP1,0,possibly_damaging,0.745,deleterious,0,2.35985,13.85,Q13316_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.345,-2.77,1.425,,,,,,7.099,,74.07,0.00147155,0,0.050183,0.967642
6565,Q13563,R,X,742,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,,,,,,,,,9413,10227,ENSG00000118762,ENST00000237596,CCDS3627.1,PKD2,0.77,,,,,8.97491,41,Q13563_R742X,R,X,742,RX,R742X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0013501,0,0.0460411,0.900587
6569,O00238,I,K,230,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,25520,24799,ENSG00000138696,ENST00000440890,,BMPR1B,0.43,probably_damaging,0.999,deleterious,0,4.74627,26.5,O00238_I230K,I,K,230,IK,I230K,Hydrophobic,PositiveCharge,6.02,9.74,3.72,131,146,15,166.7,168.6,1.9,102,,,,,,,,,,,,,,,0.947836
6574,P55157,R,X,595,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,,,,,,,,,14758,12068,ENSG00000138823,ENST00000457717,CCDS3651.1,MTTP,0.67,,,,,7.20807,38,P55157_R595X,R,X,595,RX,R595X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00173404,0,0.0591344,0.911978
6579,O00462,Q,X,426,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0,,,,,,,,,91930,37016,ENSG00000109323,ENST00000226578,CCDS3658.1,MANBA,0.48,,,,,4.92526,28.5,O00462_Q426X,Q,X,426,QX,Q426X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00182288,0,0.062164,0.96446
6582,P29371,P,S,353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,42770,1903,ENSG00000169836,ENST00000304883,CCDS3664.1,TACR3,0.76,probably_damaging,1,deleterious,0,4.94331,28.7,P29371_P353S,P,S,353,PS,P353S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.035,-3.163,2.128,0.105,H,A,0.25,-0.22,,,,0.000863679,0,0.0294532,0.692495
6597,Q9NPC6,S,P,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,15153,36853,ENSG00000172399,ENST00000307128,CCDS3711.1,MYOZ2,0.18,possibly_damaging,0.828,deleterious,0.03,4.91366,28.4,Q9NPC6_S48P,S,P,48,SP,S48P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.146,-3.472,2.326,,,,,,,,,0.00267576,0,0.0912488,0.796725
6607,Q8IVH4,Q,X,95,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0,,,,,,,,,329,7201,ENSG00000151611,ENST00000281317,CCDS3766.1,MMAA,0.23,,,,,14.1954,48,Q8IVH4_Q95X,Q,X,95,QX,Q95X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00470962,0,0.160608,0.93904
6647,P12235,V,M,289,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,3661,303,ENSG00000151729,ENST00000281456,CCDS34114.1,SLC25A4,0.97,possibly_damaging,0.802,deleterious,0,4.86161,27.8,P12235_V289M,V,M,289,VM,V289M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.465,-3.712,2.247,0.567,H,A,0.11,0.06,,,,0.0132042,0,0.45029,0.737495
6671,Q6ZWL3,P,L,396,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,19,1841,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.75,probably_damaging,0.995,deleterious,0,4.2417,22.1,Q6ZWL3_P396L,P,L,396,PL,P396L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.063,-3.484,2.421,,,,,,2.84,,75.43,0.00198327,0,0.0676337,0.854161
6676,Q6ZWL3,P,L,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,1610,213,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.97,probably_damaging,0.998,deleterious,0,4.4438,23.7,Q6ZWL3_P509L,P,L,509,PL,P509L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.906,-3.439,2.533,,,,,,,,,0.00881211,0,0.300511,0.748557
6684,P03951,K,I,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,0.001,0,0.001,,,,,,4210,2005,ENSG00000088926,ENST00000452239,,F11,0.41,benign,0.029,tolerated,0.24,0.433648,6.355,P03951_K86I,K,I,86,KI,K86I,PositiveCharge,Hydrophobic,9.74,6.02,-3.72,146,131,-15,168.6,166.7,-1.9,102,,,,,,,,,,,,0.000792395,0,0.0270223,0.988218
6689,P03951,A,V,378,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,18281,4536,ENSG00000088926,ENST00000264692,,F11,0.66,probably_damaging,0.988,deleterious,0,3.39403,17.46,P03951_A378V,A,V,378,AV,A378V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00138555,0,0.0472502,0.914935
6739,P16871,W,X,217,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,59,1929,ENSG00000168685,ENST00000343305,,IL7R,0.83,,,,,6.03533,37,P16871_W217X,W,X,217,WX,W217X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000645557,0,0.0220148,0.956807
6756,Q6KC79,R,G,2298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,172449,14952,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.85,probably_damaging,1,deleterious,0,3.17607,16.63,Q6KC79_R2298G,R,G,2298,RG,R2298G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-0.943,-3.384,2.441,,,,,,0.265,,7.49,,,,0.74248
6760,P42702,R,X,597,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.04,,,,0.001,,0.003,,,6198,5858,ENSG00000113594,ENST00000263409,CCDS3927.1,LIFR,0.54,,,,,4.72006,26.3,P42702_R597X,R,X,597,RX,R597X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000761384,0,0.0259648,0.977351
6774,P55809,G,E,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,68,93089,ENSG00000083720,ENST00000509987,,OXCT1,0.1,probably_damaging,1,deleterious,0,4.95044,28.8,P55809_G33E,G,E,33,GE,G33E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,,,,0.947149
6782,P10912,P,Q,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,133974,19962,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.23,probably_damaging,0.996,deleterious,0,4.89248,28.1,P10912_P149Q,P,Q,149,PQ,P149Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-0.906,-3.755,2.849,,.,b,0.12,-1.38,,,,0.000569009,0,0.0194044,0.608022
6825,P15848,H,P,393,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,0,0,0,,,,,,146395,23336,ENSG00000113273,ENST00000264914,CCDS4043.1,ARSB,0.74,probably_damaging,0.993,deleterious,0,3.11191,16.4,P15848_H393P,H,P,393,HP,H393P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-1.483,-3.779,2.296,0.006,E,A,0.35,-0.69,1.097,,76.74,0.00313189,0,0.106804,0.634054
6826,P15848,L,P,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,30300,139431,ENSG00000113273,ENST00000264914,CCDS4043.1,ARSB,0.44,probably_damaging,1,deleterious,0,4.17927,21.6,P15848_L236P,L,P,236,LP,L236P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.311,-3.88,2.569,,E,b,1.07,-0.73,1.028,,60.23,0.00361201,0.003367,0.123177,0.530516
6840,Q8WXG9,Y,C,6044,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,204420,178715,ENSG00000164199,ENST00000405460,CCDS47246.1,GPR98,0.96,probably_damaging,0.992,deleterious,0,3.71804,18.88,Q8WXG9_Y6044C,Y,C,6044,YC,Y6044C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.169,-4.712,3.543,,,,,,0.027,,1.51,,,,0.728682
6844,Q8NI36,N,S,355,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,0,0,0,,,,,,7336,482,ENSG00000134987,ENST00000513710,CCDS4102.1,WDR36,0.37,probably_damaging,0.925,deleterious,0,4.64452,25.5,Q8NI36_N355S,N,S,355,NS,N355S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.079,-2.753,1.674,,,,,,,,,0.000217244,0,0.00740847,0.91381
6854,P25054,L,X,698,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0,,,,,,,,,8852,158,ENSG00000134982,ENST00000257430,CCDS4107.1,APC,0.25,,,,,5.94959,36,P25054_L698X,L,X,698,LX,L698X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
6859,P49419,Y,X,344,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.07,,,,,,,,,12,93,ENSG00000164904,ENST00000553117,,ALDH7A1,0.72,,,,,4.60937,25.2,P49419_Y344X,Y,X,344,YX,Y344X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00330391,0,0.11267,0.945391
6930,P43243,S,C,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,427,9,ENSG00000015479,ENST00000502929,,MATR3,0.09,probably_damaging,0.961,deleterious,0,2.80565,15.34,P43243_S85C,S,C,85,SC,S85C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.348,-4.373,3.025,,,,,,,,,0.00015408,0,0.00525444,0.814655
7063,P00488,V,F,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,99,18299,ENSG00000124491,ENST00000264870,CCDS4496.1,F13A1,0.43,probably_damaging,1,deleterious,0,4.7664,26.7,P00488_V317F,V,F,317,VF,V317F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.201,-3.619,2.418,,H,A,0.14,-0.95,,,,0.00036633,0,0.0124926,0.62984
7165,Q9Y253,K,E,473,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,0,0,0,0.004,0.01,,,,8150,1643,ENSG00000170734,ENST00000535400,,POLH,0.73,benign,0.144,tolerated,0.11,2.57349,14.57,Q9Y253_K473E,K,E,473,KE,K473E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.000989577,0,0.0337466,0.924221
7192,Q02094,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.42,0,0,0,0,,,,,,30,31087,ENSG00000112077,ENST00000229810,,RHAG,0,benign,0.093,tolerated,0.13,3.22248,16.8,Q02094_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.601,-2.233,0.632,,,,,,14.605,14.605,40.1,0.00315707,0.00245098,0.107663,0.994246
7195,P08F94,I,T,3553,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,428158,44168,ENSG00000170927,ENST00000371117,CCDS4935.1,PKHD1,0.87,benign,0.072,deleterious,0,2.80229,15.33,P08F94_I3553T,I,T,3553,IT,I3553T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.569,-3.222,1.653,,,,,,4.114,,82.4,,,,0.914094
7196,P08F94,V,G,3471,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,427912,44414,ENSG00000170927,ENST00000371117,CCDS4935.1,PKHD1,0.85,possibly_damaging,0.837,deleterious,0,3.24591,16.88,P08F94_V3471G,V,G,3471,VG,V3471G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.289,-3.578,2.289,,,,,,1.631,,79.97,,,,0.798792
7238,Q03692,S,P,600,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,840,1292,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.88,,,deleterious,0.01,1.61852,11.37,Q03692_S600P,S,P,600,SP,S600P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.23,-3.575,2.345,0.168,E,B,0.25,-0.73,2.047,,70.44,0.00670929,0,0.228801,0.6579
7247,P26678,R,C,9,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,10648,1785,ENSG00000198523,ENST00000357525,CCDS5120.1,PLN,0.17,probably_damaging,0.928,,,3.22667,16.81,P26678_R9C,R,C,9,RC,R9C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.721,-4.538,2.817,,,,,,0.577,,26.92,0.0186988,0,0.637668,0.738054
7266,P05089,I,T,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,62,653,ENSG00000118520,ENST00000368087,CCDS5145.1,ARG1,0.03,probably_damaging,0.997,deleterious,0,3.29189,17.06,P05089_I11T,I,T,11,IT,I11T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.602,-3.226,1.624,,E,B,0.7,-0.12,4.419,,88.51,0.0048569,0,0.16563,0.818314
7267,P05089,R,X,21,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,32,2700,ENSG00000118520,ENST00000368087,CCDS5145.1,ARG1,0.07,,,,,6.4181,37,P05089_R21X,R,X,21,RX,R21X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00425694,0,0.14517,0.94011
7283,O00628,G,R,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,0,0,0,,,,,,47320,43995,ENSG00000112357,ENST00000318471,CCDS5180.1,PEX7,0.67,probably_damaging,0.994,deleterious,0,3.90742,19.87,O00628_G217R,G,R,217,GR,G217R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.26,-3.847,2.587,,,,,,30.356,30.356,88.24,0.00487714,0,0.166321,0.849761
7316,P00747,W,X,616,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0,,,,,,,,,148,13671,ENSG00000122194,ENST00000308192,CCDS5279.1,PLG,0.76,,,,,7.93801,40,P00747_W616X,W,X,616,WX,W616X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00129433,0,0.0441392,0.881419
7324,O60260,C,Y,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,754268,428289,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.42,probably_damaging,0.986,deleterious,0,3.71835,18.88,O60260_C184Y,C,Y,184,CY,C184Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.0024565,0,0.0837718,0.949929
7357,P31271,N,H,372,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.07,,,,,,,,,325,2986,ENSG00000106031,ENST00000222753,CCDS5412.1,HOXA13,0.96,probably_damaging,0.999,deleterious,0,3.83355,19.47,P31271_N372H,N,H,372,NH,N372H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,-1.26,-3.741,2.481,,,,,,,,,0.015711,0.125,0.535779,0.783455
7431,P20711,F,L,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,48614,2722,ENSG00000132437,ENST00000426377,CCDS56485.1,DDC,0.57,probably_damaging,0.989,deleterious,0,4.78275,26.9,P20711_F231L,F,L,231,FL,F231L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.00284491,0,0.0970172,0.958274
7460,Q9Y3A5,R,T,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,1068,2162,ENSG00000126524,ENST00000246868,CCDS5537.1,SBDS,0.5,possibly_damaging,0.651,deleterious,0,3.42969,17.6,Q9Y3A5_R126T,R,T,126,RT,R126T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.456,-2.621,1.165,0.735,.,B,0.98,0,11.902,11.902,66.8,0.00497252,0,0.169573,0.861616
7544,O43511,G,V,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,0,0,0.001,,,,,,14335,42840,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.27,probably_damaging,1,deleterious,0,4.7738,26.8,O43511_G209V,G,V,209,GV,G209V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.668,-2.677,2.009,,,,,,9.423,9.423,35,0.00030561,0,0.0104219,0.855301
7556,O43511,G,S,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,2652,20,ENSG00000091137,ENST00000544569,,SLC26A4,0.23,probably_damaging,0.999,deleterious,0,5.90253,36,O43511_G84S,G,S,84,GS,G84S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.000984918,0,0.0335877,0.923325
7557,O43511,Q,K,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,2703,5,ENSG00000091137,ENST00000544569,,SLC26A4,0.28,probably_damaging,0.99,deleterious,0,5.51547,35,O43511_Q101K,Q,K,101,QK,Q101K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,-1.073,-3.338,2.265,,,,,,9.26,,76.67,0.000363385,0,0.0123922,0.87065
7568,P09622,M,V,361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,26133,2287,ENSG00000091140,ENST00000417551,CCDS5749.1,DLD,0.71,probably_damaging,0.961,deleterious,0,4.01135,20.6,P09622_M361V,M,V,361,MV,M361V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.776,-2.665,0.889,0.529,.,b,0.11,0.14,7.983,,83.3,0.000264124,0,0.00900718,0.948959
7597,P13569,R,Q,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,60190,126787,ENSG00000001626,ENST00000426809,,CFTR,0.22,probably_damaging,0.997,tolerated,0.09,5.24076,33,P13569_R322Q,R,Q,322,RQ,R322Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00032046,0,0.0109284,0.995428
7634,P13569,Y,C,883,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,123517,63460,ENSG00000001626,ENST00000426809,,CFTR,0.61,probably_damaging,0.907,deleterious,0.01,2.26196,13.52,P13569_Y883C,Y,C,883,YC,Y883C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.000955314,0,0.0325782,0.889925
7636,P13569,L,P,1035,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,18,6844,ENSG00000001626,ENST00000426809,,CFTR,0.72,probably_damaging,0.984,deleterious,0,4.43427,23.6,P13569_L1035P,L,P,1035,LP,L1035P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.000776919,0,0.0264945,0.981753
7637,P13569,R,C,1036,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,20,6846,ENSG00000001626,ENST00000426809,,CFTR,0.72,probably_damaging,1,deleterious,0,3.7461,19.02,P13569_R1036C,R,C,1036,RC,R1036C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000406798,0,0.0138726,0.954625
7638,P13569,R,H,1036,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,21,6847,ENSG00000001626,ENST00000426809,,CFTR,0.72,probably_damaging,1,deleterious,0,5.34009,34,P13569_R1036H,R,H,1036,RH,R1036H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000406798,0,0.0138726,1.0021
7639,P13569,A,T,1037,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,0,0,0,,,,,,23,6849,ENSG00000001626,ENST00000426809,,CFTR,0.72,probably_damaging,0.998,deleterious,0,5.50584,35,P13569_A1037T,A,T,1037,AT,A1037T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000662286,0,0.0225853,0.995499
7645,P13569,Q,X,1208,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0,,,,,,,,,16148,146,ENSG00000001626,ENST00000426809,,CFTR,0.84,,,,,8.44472,40,P13569_Q1208X,Q,X,1208,QX,Q1208X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0010689,0,0.0364518,0.912628
7649,P13569,S,P,1225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,4933,24589,ENSG00000001626,ENST00000426809,,CFTR,0.85,possibly_damaging,0.767,tolerated,0.08,3.12196,16.43,P13569_S1225P,S,P,1225,SP,S1225P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.0011689,0,0.0398618,0.922762
7650,P13569,D,N,1240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,0.005,0.013,0,0.004,,0.003,0.01,0.001,4888,24544,ENSG00000001626,ENST00000426809,,CFTR,0.86,probably_damaging,1,deleterious,0,5.20524,33,P13569_D1240N,D,N,1240,DN,D1240N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00185173,0,0.0631477,0.983886
7691,P15056,G,E,469,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,1556,47005,ENSG00000157764,ENST00000288602,CCDS5863.1,BRAF,0.61,probably_damaging,0.997,deleterious,0,5.03302,29.8,P15056_G469E,G,E,469,GE,G469E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.008,-3.347,2.339,0.046,.,g,0.75,0.79,,,,0.000474985,0,0.016198,0.656907
7771,Q13510,T,K,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,151,41,ENSG00000104763,ENST00000520781,,ASAH1,0.53,probably_damaging,0.97,tolerated,0.06,4.18763,21.7,Q13510_T197K,T,K,197,TK,T197K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.067,-3.274,2.207,,,,,,,,,0.00413948,0,0.141165,0.798547
7780,P06858,D,N,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,0.027,0.045,0.018,0.01,,0.003,0.04,0.01,8825,107,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.08,benign,0.038,deleterious,0.05,1.37396,10.52,P06858_D36N,D,N,36,DN,D36N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.603,-2.318,0.715,,,,,,27.805,27.805,87.79,0.00213854,0,0.0729287,1.01299
7807,P06858,W,X,409,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,22017,6271,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.86,,,,,8.22087,40,P06858_W409X,W,X,409,WX,W409X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0086218,0.0151515,0.294021,0.881516
7808,P06858,C,Y,445,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,23155,5133,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.94,probably_damaging,0.994,deleterious,0,4.0994,21.1,P06858_C445Y,C,Y,445,CY,C445Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,0.0109655,0,0.373945,0.740142
7870,Q68CP4,M,K,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,11624,328,ENSG00000165102,ENST00000521576,,HGSNAT,0.57,benign,0.285,deleterious,0.02,3.07302,16.26,Q68CP4_M199K,M,K,199,MK,M199K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,,,,,,,,,,,,,,,0.947097
7898,Q8TB36,R,W,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,9740,65,ENSG00000104381,ENST00000434412,CCDS47877.1,GDAP1,0.18,probably_damaging,0.994,deleterious,0,3.7738,19.16,Q8TB36_R52W,R,W,52,RW,R52W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00232784,0,0.0793842,0.96958
7906,Q8TB36,R,C,214,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.07,,,,,,,,,1183,105,ENSG00000104381,ENST00000434412,CCDS47877.1,GDAP1,0.74,probably_damaging,0.999,deleterious,0,4.73403,26.4,Q8TB36_R214C,R,C,214,RC,R214C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00215619,0,0.0735304,0.938419
7935,Q7Z7G8,W,X,1641,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,35653,21234,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.41,,,,,11.8561,45,Q7Z7G8_W1641X,W,X,1641,WX,W1641X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
7940,Q7Z7G8,R,X,2351,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,105,57863,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.58,,,,,16.3363,50,Q7Z7G8_R2351X,R,X,2351,RX,R2351X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7943,Q7Z7G8,C,X,2764,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.05,,,,,,,,,804393,59921,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.69,,,,,16.5139,50,Q7Z7G8_C2764X,C,X,2764,CX,C2764X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
7946,Q7Z7G8,N,S,2993,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,0.004,0.001,0.006,0.002,,0.01,,0.003,806765,57549,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.74,probably_damaging,0.963,deleterious,0,4.44415,23.7,Q7Z7G8_N2993S,N,S,2993,NS,N2993S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.162,-2.713,1.551,,,,,,,,,,,,0.860263
7960,Q8WW38,S,G,525,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,0.041,0.131,0.001,0.03,,0.01,0.14,,13335,1547,ENSG00000169946,ENST00000517361,,ZFPM2,0.52,benign,0.011,tolerated,0.1,-0.58112,1.39,Q8WW38_S525G,S,G,525,SG,S525G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,,,,,,,,,,,,0.000172672,0,0.00588847,0.993094
7964,Q9UHF7,Y,X,1096,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,77628,164,ENSG00000104447,ENST00000520276,,TRPS1,0.85,,,,,6.68202,38,Q9UHF7_Y1096X,Y,X,1096,YX,Y1096X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
7979,Q12768,L,F,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,10146,29048,ENSG00000164961,ENST00000523273,,KIAA0196,0.33,probably_damaging,0.999,deleterious,0,3.85919,19.61,Q12768_L236F,L,F,236,LF,L236F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,,,,0.961576
8106,Q16595,Y,X,118,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,6823,19567,ENSG00000165060,ENST00000377270,CCDS6626.1,FXN,0.56,,,,,8.07338,40,Q16595_Y118X,Y,X,118,YX,Y118X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00475609,0.0108696,0.162193,0.931534
8107,Q16595,D,Y,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,6833,19557,ENSG00000165060,ENST00000377270,CCDS6626.1,FXN,0.58,probably_damaging,0.999,deleterious,0,4.11266,21.2,Q16595_D122Y,D,Y,122,DY,D122Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.213,-4.158,2.945,0.213,T,A,0.96,-0.65,0.763,,47.62,0.00451893,0,0.154105,0.517563
8131,Q9BX84,R,X,469,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.04,,,,,,,,,10166,50356,ENSG00000119121,ENST00000449912,CCDS55319.1,TRPM6,0.23,,,,,7.66205,39,Q9BX84_R469X,R,X,469,RX,R469X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8168,P37058,M,V,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,973,1550,ENSG00000130948,ENST00000375263,CCDS6716.1,HSD17B3,0.76,probably_damaging,0.927,deleterious,0.01,2.00412,12.66,P37058_M235V,M,V,235,MV,M235V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.515,-1.979,0.464,,,,,,9.38,9.38,34.84,0.00420143,0,0.143278,0.979518
8204,O95477,S,L,1506,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,123570,23666,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.67,probably_damaging,0.997,deleterious,0,5.5908,35,O95477_S1506L,S,L,1506,SL,S1506L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.348,-3.094,1.746,,,,,,,,,0.000230823,0,0.00787154,0.891473
8307,Q7Z333,R,H,2136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,3095,633,ENSG00000107290,ENST00000372169,,SETX,0.79,benign,0.317,tolerated,0.21,2.82457,15.41,Q7Z333_R2136H,R,H,2136,RH,R2136H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.32,-2.363,1.043,,,,,,15.804,15.804,44.64,,,,0.878074
8318,Q92574,M,R,103,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,2256,391,ENSG00000165699,ENST00000537172,,TSC1,0.37,probably_damaging,0.956,deleterious,0,4.36236,23,Q92574_M103R,M,R,103,MR,M103R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,0.000354895,0,0.0121027,0.992159
8320,Q92574,C,X,44,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,324,1542,ENSG00000165699,ENST00000537172,,TSC1,0.16,,,,,5.81705,36,Q92574_C44X,C,X,44,CX,C44X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000669259,0,0.0228231,0.980504
8360,P51690,G,R,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,5,393,ENSG00000157399,ENST00000545496,,ARSE,0.23,possibly_damaging,0.529,deleterious,0,1.93597,12.43,P51690_G142R,G,R,142,GR,G142R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00183664,0,0.0626331,0.954089
8377,P51810,S,F,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.07,,,,,,,,,5154,17246,ENSG00000101850,ENST00000467482,CCDS14134.2,GPR143,0.22,probably_damaging,0.976,deleterious,0,3.6469,18.54,P51810_S89F,S,F,89,SF,S89F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.267,-3.937,2.67,,,,,,1.726,,78.3,0.00351901,0,0.120005,0.844032
8385,Q99217,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.42,0,,,,,,,,,1377,5964,ENSG00000125363,ENST00000380712,CCDS14145.1,AMELX,0,probably_damaging,0.985,deleterious,0,3.01586,16.06,Q99217_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.803,-1.969,0.166,,,,,,16.609,16.609,67.54,0.00349728,0,0.119265,1.02133
8438,O43462,W,L,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,28819,4612,ENSG00000012174,ENST00000365779,,MBTPS2,0.68,probably_damaging,0.998,deleterious,0,4.67044,25.8,O43462_W226L,W,L,226,WL,W226L,Hydrophobic,Hydrophobic,5.89,9.71,3.82,204,131,-73,227.8,166.7,-61.1,61,-1.301,-3.094,1.793,,,,,,,,,0.00144311,0,0.0492131,0.807004
8439,O43462,H,L,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,28822,4609,ENSG00000012174,ENST00000365779,,MBTPS2,0.69,probably_damaging,0.999,deleterious,0,4.53811,24.5,O43462_H227L,H,L,227,HL,H227L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.433,-3.319,1.886,,,,,,,,,0.00129159,0,0.0440458,0.812065
8485,P11532,S,X,3066,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,62517,6,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.83,,,,,17.4932,51,P11532_S3066X,S,X,3066,SX,S3066X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
8502,P11532,E,X,1157,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,673565,90115,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.31,,,,,10.9985,44,P11532_E1157X,E,X,1157,EX,E1157X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8518,P11532,L,R,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,50,25,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.01,probably_damaging,0.999,deleterious,0,4.16216,21.5,P11532_L54R,L,R,54,LR,L54R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.208,-3.668,2.46,,H,A,1.75,-0.17,,,,,,,0.547767
8523,P04839,H,Y,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,11959,19081,ENSG00000165168,ENST00000378588,CCDS14242.1,CYBB,0.18,probably_damaging,1,deleterious,0,4.94554,28.7,P04839_H101Y,H,Y,101,HY,H101Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.311,-3.039,1.728,,,,,,,,,0.000452837,0,0.0154427,0.911619
8524,P04839,H,R,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,11960,19080,ENSG00000165168,ENST00000378588,CCDS14242.1,CYBB,0.18,probably_damaging,1,deleterious,0,4.5713,24.8,P04839_H101R,H,R,101,HR,H101R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.311,-3.26,1.949,,,,,,,,,0.000452837,0,0.0154427,0.901819
8526,P04839,H,Y,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,16028,15012,ENSG00000165168,ENST00000378588,CCDS14242.1,CYBB,0.37,probably_damaging,1,deleterious,0,4.65958,25.6,P04839_H209Y,H,Y,209,HY,H209Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.311,-3.039,1.728,,,,,,,,,0.000448197,0,0.0152844,0.911619
8528,P04839,C,S,244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,791,5069,ENSG00000165168,ENST00000378588,CCDS14242.1,CYBB,0.43,probably_damaging,0.999,deleterious,0.03,3.97478,20.3,P04839_C244S,C,S,244,CS,C244S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.293,-3.163,1.87,,,,,,,,,0.00152824,0,0.0521162,0.814167
8533,P04839,D,G,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,29540,1500,ENSG00000165168,ENST00000536160,,CYBB,0.77,probably_damaging,1,deleterious,0,4.68637,25.9,P04839_D233G,D,G,233,DG,D233G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00255568,0.00296736,0.0871541,0.966757
8539,Q92834,F,C,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,82,1663,ENSG00000156313,ENST00000318842,CCDS14246.1,RPGR,0.16,probably_damaging,0.997,deleterious,0.01,2.36012,13.85,Q92834_F130C,F,C,130,FC,F130C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.035,-4.737,3.702,,,,,,,,,0.000210361,0,0.00717376,0.778235
8544,P00480,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.42,0.05,,,,,,,,,93,50970,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0,possibly_damaging,0.487,deleterious,0,3.0911,16.32,P00480_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.402,-3.271,1.869,,,,,,2.355,,47.18,0.00107139,0,0.0365365,0.935758
8545,P00480,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.42,0.05,,,,,,,,,94,50969,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0,benign,0.179,deleterious,0,3.15365,16.55,P00480_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.402,-2.899,1.497,,,,,,7.746,,47.18,0.00107139,0,0.0365365,0.958732
8610,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.42,0.01,,,,,,,,,17273,33790,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,3.72045,18.89,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8611,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.42,0.01,,,,,,,,,17273,33790,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,3.66013,18.61,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8646,P00480,S,X,146,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,39,2343,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.41,,,,,7.34501,39,P00480_S146X,S,X,146,SX,S146X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00600805,0,0.204887,0.927195
8666,P00480,S,P,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,15,2290,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.46,probably_damaging,1,deleterious,0.03,4.67851,25.8,P00480_S164P,S,P,164,SP,S164P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.34,-4.019,2.679,,.,B,0.25,-0.28,1.177,,39.27,0.00410631,0,0.140033,0.608124
8667,P00480,S,X,164,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,16,2289,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.46,,,,,8.16615,40,P00480_S164X,S,X,164,SX,S164X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00410631,0,0.140033,0.953542
8668,P00480,D,Y,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,18,2287,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.47,probably_damaging,0.996,deleterious,0,4.70817,26.1,P00480_D165Y,D,Y,165,DY,D165Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.215,-4.533,3.318,0.494,S,A,0.96,-0.11,2.672,,55.37,0.00298335,0,0.101738,0.652591
8678,P00480,A,P,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,45,2260,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.49,probably_damaging,1,deleterious,0,5.14791,32,P00480_A174P,A,P,174,AP,A174P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.072,-4.007,2.935,,H,A,0.52,-1.07,1.16,,40.96,0.00286235,0,0.097612,0.557278
8752,P00480,A,T,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,7552,2975,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.71,probably_damaging,1,deleterious,0,5.0559,30,P00480_A253T,A,T,253,AT,A253T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-0.988,-2.727,1.739,,H,A,0.22,-0.53,9.239,9.239,40.4,0.00180536,0,0.0615664,0.803115
8753,P00480,A,P,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,7552,2975,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.71,probably_damaging,1,deleterious,0,4.76213,26.7,P00480_A253P,A,P,253,AP,A253P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-0.988,-3.131,2.143,,H,A,0.52,-0.53,21.383,21.383,40.4,0.00180536,0,0.0615664,0.693034
8772,P00480,Q,X,279,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,7630,2897,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.79,,,,,5.98002,37,P00480_Q279X,Q,X,279,QX,Q279X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00487323,0,0.166187,0.940312
8773,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.42,0.01,,,,,,,,,7663,2864,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,4.45081,23.7,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8774,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.42,0.01,,,,,,,,,7663,2864,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,4.39048,23.2,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8776,P00480,W,S,298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,10524,3,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.84,possibly_damaging,0.881,deleterious,0.02,4.42455,23.5,P00480_W298S,W,S,298,WS,W298S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.973,-2.811,0.838,0.113,.,B,0.74,-0.43,11.617,11.617,44.92,0.00600637,0,0.204829,0.642321
8777,P00480,L,F,301,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,10534,8,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.85,probably_damaging,0.998,deleterious,0,3.61268,18.39,P00480_L301F,L,F,301,LF,L301F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.171,-3.203,2.032,0.007,E,B,0.03,-0.94,15.135,15.135,70.06,0.00447328,0,0.152548,0.729437
8778,P00480,H,Y,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,10535,9,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.85,probably_damaging,1,deleterious,0,4.57572,24.8,P00480_H302Y,H,Y,302,HY,H302Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-0.746,-3.466,2.72,0.006,E,B,0.38,-0.67,1.435,,79.94,0.00206561,0,0.0704414,0.681828
8798,P00480,S,X,321,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,10593,67,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.91,,,,,4.6049,25.1,P00480_S321X,S,X,321,SX,S321X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00389541,0,0.132842,0.953542
8801,P00480,R,G,330,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,10619,93,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.93,probably_damaging,0.997,deleterious,0,3.70438,18.82,P00480_R330G,R,G,330,RG,R330G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-0.798,-3.547,2.749,0.026,H,A,0.91,-1.02,3.105,,87.01,0.00229979,0,0.0784278,0.567102
8803,P00480,W,R,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,10625,99,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.94,probably_damaging,0.989,deleterious,0,4.10517,21.1,P00480_W332R,W,R,332,WR,W332R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.524,-3.289,1.765,0.072,H,A,1.67,-0.91,15.355,15.355,87.01,0.0160678,0.0454545,0.547945,0.704208
8804,P00480,W,X,332,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,10626,100,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.94,,,,,6.0775,37,P00480_W332X,W,X,332,WX,W332X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0160678,0.0454545,0.547945,0.904444
8805,P00480,W,X,332,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,10627,101,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.94,,,,,6.08985,37,P00480_W332X,W,X,332,WX,W332X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0160678,0.0454545,0.547945,0.904444
8806,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.42,0.01,,,,,,,,,10637,111,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,4.31678,22.6,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8809,P00480,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.42,0.01,,,,,,,,,68477,429,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,,,,,,4.22521,22,P00480_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8812,P00480,V,L,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,68487,419,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.96,benign,0.004,tolerated,0.34,2.49366,14.3,P00480_V339L,V,L,339,VL,V339L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.919,-2.371,0.452,,H,A,0.11,-0.73,21.852,21.852,74.58,0.0263541,0.2,0.898728,0.929455
8813,P00480,S,P,340,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,68490,416,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.96,probably_damaging,0.963,deleterious,0.02,3.64893,18.55,P00480_S340P,S,P,340,SP,S340P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-2.081,-4.341,2.26,0.064,H,A,0.25,-0.32,2.2,,75.42,0.0235559,0.142857,0.803305,0.683809
8814,P00480,L,P,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,68494,412,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.96,probably_damaging,0.995,deleterious,0,3.83819,19.49,P00480_L341P,L,P,341,LP,L341P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.43,-4.41,2.98,0.015,H,A,1.07,-0.48,1.563,,91.53,0.0163318,0.0769231,0.556948,0.658207
8857,Q00604,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.42,0,,,,,,,,,8913,8963,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.01,benign,0.126,deleterious,0,2.20408,13.33,Q00604_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.998,-2.535,0.537,,,,,,,,,0.00812453,0,0.277063,0.923202
8911,P51795,S,L,244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,16488,6420,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.33,probably_damaging,0.981,deleterious,0,4.81177,27.2,P51795_S244L,S,L,244,SL,S244L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.348,-3.094,1.746,,,,,,,,,0.00104537,0,0.0356492,0.82179
8917,P51795,R,X,648,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.04,,,,,,,,,21179,1729,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.87,,,,,8.39358,40,P51795_R648X,R,X,648,RX,R648X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00245937,0,0.0838694,0.959768
8977,P10275,R,Q,608,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,117175,3700,ENSG00000169083,ENST00000504326,,AR,0.94,probably_damaging,0.988,deleterious,0,5.37556,34,P10275_R608Q,R,Q,608,RQ,R608Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.123,-3.534,2.411,,,,,,1.466,,76.71,0.00079314,0,0.0270477,0.871843
8998,P10275,R,C,309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,154009,1039,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.8,probably_damaging,0.961,deleterious,0,3.92288,19.96,P10275_R309C,R,C,309,RC,R309C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000966734,0,0.0329676,0.887012
9063,P46020,D,V,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,56429,76983,ENSG00000067177,ENST00000373545,,PHKA1,0.25,probably_damaging,1,deleterious,0,4.21488,21.9,P46020_D299V,D,V,299,DV,D299V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.139,-3.489,2.35,,,,,,,,,0.000227792,0,0.00776817,0.817492
9087,P46100,R,C,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,101691,179634,ENSG00000085224,ENST00000395603,CCDS14435.1,ATRX,0.08,probably_damaging,0.998,,,2.31729,13.71,P46100_R208C,R,C,208,RC,R208C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
9138,Q06187,M,K,454,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,772,107,ENSG00000010671,ENST00000372880,,BTK,0.94,benign,0.179,deleterious,0,3.18349,16.65,Q06187_M454K,M,K,454,MK,M454K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,,,,,,,,,,,,0.000307763,0,0.0104954,0.988235
9141,Q06187,Y,X,415,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,656,10,ENSG00000010671,ENST00000372880,,BTK,0.86,,,,,7.04209,38,Q06187_Y415X,Y,X,415,YX,Y415X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00123922,0,0.0422599,0.8948
9142,Q06187,E,G,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,649,17,ENSG00000010671,ENST00000372880,,BTK,0.86,probably_damaging,0.989,deleterious,0,4.43433,23.6,Q06187_E413G,E,G,413,EG,E413G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,,,,,,,,,,,,0.000535225,0,0.0182523,0.963814
9163,Q06187,V,D,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,16129,20601,ENSG00000010671,ENST00000372880,,BTK,0.23,probably_damaging,0.992,deleterious,0,3.73357,18.96,Q06187_V113D,V,D,113,VD,V113D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.376,-3.73,2.354,0.008,E,B,1.19,-0.91,0.993,,54.63,0.00161525,0,0.0550834,0.547989
9164,Q06187,T,P,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.07,,,,,,,,,10961,882,ENSG00000010671,ENST00000372880,,BTK,0.07,probably_damaging,0.998,deleterious,0,4.06132,20.9,Q06187_T33P,T,P,33,TP,T33P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.245,-3.39,2.145,0.194,.,B,0.3,-0.57,,,,0.000587492,0,0.0200347,0.685418
9177,P06280,G,R,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,308,130,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.76,probably_damaging,0.999,deleterious,0,4.68976,25.9,P06280_G328R,G,R,328,GR,G328R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,.,b,0.91,-0.92,,,,0.00214584,0,0.0731775,0.518687
9185,P06280,V,A,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,132,47,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.63,possibly_damaging,0.616,deleterious,0,4.61438,25.2,P06280_V269A,V,A,269,VA,V269A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.128,-2.797,1.669,0.008,.,A,0.44,-1.21,2.976,,63.4,0.00356172,0,0.121462,0.704715
9235,P60891,A,T,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,73,1694,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.27,possibly_damaging,0.589,deleterious,0.02,4.79208,27,P60891_A87T,A,T,87,AT,A87T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.556,-2.8,1.244,,E,B,0.22,-1.13,,,,0.00287713,0,0.0981159,0.733286
9252,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.42,0.04,,,,,,,,,128816,278,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.59458,25,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9266,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.42,0,,,,,,,,,136091,121569,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.27445,22.3,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9287,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.42,0.01,,,,,,,,,391,44387,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,3.90815,19.87,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9289,P29400,G,R,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,410,44368,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.19,,,deleterious,0,3.53008,18.02,P29400_G319R,G,R,319,GR,G319R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.000109875,0,0.00374698,0.793499
9290,P29400,G,D,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,411,44367,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.19,,,deleterious,0,3.61615,18.4,P29400_G319D,G,D,319,GD,G319D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,,,,,0.000109875,0,0.00374698,0.813644
9307,P29400,G,E,466,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0,,,,,,,,,9126,35652,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.28,,,deleterious,0,1.68679,11.6,P29400_G466E,G,E,466,GE,G466E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,0.000222566,0,0.00758997,0.806888
9407,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.42,0.03,,,,,,,,,228435,29225,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,2.81643,15.38,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9408,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.42,0.03,,,,,,,,,228436,29224,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,3.35954,17.32,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9419,P29400,K,X,1326,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.04,,,,,,,,,10677,6789,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.78,,,,,12.4447,46,P29400_K1326X,K,X,1326,KX,K1326X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000909146,0,0.0310038,0.98231
9430,P29400,R,H,1517,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.05,,,,,,,,,54,3994,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.9,benign,0.198,tolerated,0.09,3.17909,16.64,P29400_R1517H,R,H,1517,RH,R1517H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000605153,0,0.020637,1.00233
9449,O75914,R,C,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,25,10298,ENSG00000077264,ENST00000372010,CCDS48153.1,PAK3,0.12,probably_damaging,0.964,deleterious,0,4.96523,29,O75914_R67C,R,C,67,RC,R67C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.582,-4.769,3.187,,,,,,,,,,,,0.718498
9467,P49459,Q,X,98,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.04,,,,,,,,,2843,286,ENSG00000077721,ENST00000346330,CCDS14581.1,UBE2A,0.8,,,,,4.92393,28.5,P49459_Q98X,Q,X,98,QX,Q98X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
9480,Q96EU7,R,X,68,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.03,,,,,,,,,3031,1034,ENSG00000171155,ENST00000371313,CCDS14602.1,C1GALT1C1,0.21,,,,,6.56235,37,Q96EU7_R68X,R,X,68,RX,R68X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00482605,0,0.164578,0.936046
9495,Q01968,R,Q,500,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.07,,,,,,,,,2009,23227,ENSG00000122126,ENST00000371113,CCDS35393.1,OCRL,0.55,probably_damaging,1,deleterious,0,5.55295,35,Q01968_R500Q,R,Q,500,RQ,R500Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.673,-2.988,2.315,0.004,E,B,0.56,-0.7,6.102,6.102,28.52,0.000228039,0,0.00777661,0.621885
9498,Q6ZUT3,R,X,335,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.01,,,,,,,,,14211,2181,ENSG00000165694,ENST00000298542,CCDS35397.1,FRMD7,0.47,,,,,7.00214,38,Q6ZUT3_R335X,R,X,335,RX,R335X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000905378,0,0.0308753,0.977351
9509,Q8IWS0,C,Y,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.04,,,,,,,,,4378,37542,ENSG00000156531,ENST00000394292,,PHF6,0.12,probably_damaging,0.998,deleterious,0,4.14318,21.4,Q8IWS0_C45Y,C,Y,45,CY,C45Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,0.00055515,0,0.0189318,0.801021
9520,P00492,M,T,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.03,,,,,,,,,1842,23426,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.26,benign,0.313,tolerated,0.14,2.52554,14.4,P00492_M57T,M,T,57,MT,M57T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.985,-3.198,1.213,0.032,H,A,0.77,0.99,3.058,,77.06,0.00812808,0,0.277184,0.833333
9553,P29965,R,X,11,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.42,0.04,,,,,,,,,52,12112,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.04,,,,,3.82742,19.44,P29965_R11X,R,X,11,RX,R11X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00277673,0,0.0946923,0.951177
9558,P29965,W,G,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,10820,1344,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.54,probably_damaging,1,deleterious,0,3.32483,17.18,P29965_W140G,W,G,140,WG,W140G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-0.881,-3.504,2.623,,E,B,0.76,-0.81,0.582,,27.59,0.00309954,0,0.105701,0.511109
9559,P29965,L,P,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,10866,1298,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.59,probably_damaging,0.985,deleterious,0.01,2.72241,15.06,P29965_L155P,L,P,155,LP,L155P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.595,-4.231,2.636,0.161,E,B,1.07,-0.43,0.849,,58.24,0.00707336,0,0.241216,0.546876
9590,P00740,V,F,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,20455,10852,ENSG00000101981,ENST00000394090,,F9,0.45,possibly_damaging,0.827,deleterious,0,2.87205,15.57,P00740_V189F,V,F,189,VF,V189F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,0.00390769,0.00735294,0.13326,0.955386
9638,P22304,W,R,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.01,,,,,,,,,3282,60,ENSG00000010404,ENST00000541269,,IDS,0.4,probably_damaging,0.999,deleterious,0,4.56527,24.7,P22304_W134R,W,R,134,WR,W134R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.000795529,0,0.0271292,0.978382
9792,O60832,S,N,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.42,0.07,,,,,,,,,763,15,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.59,benign,0.237,deleterious,0.01,4.48002,24,O60832_S304N,S,N,304,SN,S304N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.239,-3,1.761,0.264,G,A,0.34,-0.18,,,,0.00147797,0,0.0504018,0.844864
99,Q8WXF7,F,C,193,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.43,0.01,,,,,,,,,35449,17707,ENSG00000198513,ENST00000354525,CCDS32077.1,ATL1,0.35,probably_damaging,1,deleterious,0,4.52448,24.4,Q8WXF7_F193C,F,C,193,FC,F193C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-0.937,-5.003,4.066,0.006,H,A,0.12,-0.26,1.009,,56.45,0.0010736,0,0.0424584,0.580619
217,P29033,I,T,203,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.43,0.04,,,,0.01,0.06,,,,807,1502,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.9,possibly_damaging,0.761,deleterious,0,3.29414,17.07,P29033_I203T,I,T,203,IT,I203T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.399,-3.614,2.215,0.226,H,A,0.7,-0.08,3.844,,81.42,0.00567191,0,0.224312,0.770217
222,P28069,T,S,73,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.43,0.03,0.003,0.009,0,0.004,,,0.02,,3041,13525,ENSG00000064835,ENST00000344265,CCDS46873.1,POU1F1,0.23,benign,0.09,tolerated,0.14,1.99102,12.61,P28069_T73S,T,S,73,TS,T73S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,,,,,,,,,,,,0.00418701,0,0.165587,0.966195
326,P02768,K,N,300,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.43,0.04,,,,,,,,,99,1920,ENSG00000163631,ENST00000509063,,ALB,0.5,possibly_damaging,0.509,deleterious,0.01,2.73849,15.12,P02768_K300N,K,N,300,KN,K300N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-1.826,-3.297,1.471,0.629,H,A,1.73,1.14,19.607,19.607,78.82,0.00230524,0,0.0911672,0.908239
346,P01023,C,Y,972,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.43,0,,,,,,,,,644,227,ENSG00000175899,ENST00000318602,CCDS44827.1,A2M,0.66,probably_damaging,1,deleterious,0,4.16322,21.5,P01023_C972Y,C,Y,972,CY,C972Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.082,-3.038,1.956,,,,,,22.222,22.222,70.01,0.00039947,0,0.0157982,0.90811
351,P00738,K,E,71,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.43,0,,,,,,,,,1254,69,ENSG00000257017,ENST00000567185,,HP,0.18,,,,,0.002028,4.025,P00738_K71E,K,E,71,KE,K71E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-2.928,-2.895,-0.033,,,,,,26.56,26.56,22.17,0.00187076,0,0.0739845,0.985751
85,P21912,R,X,90,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.01,,,,0.001,,,,0.001,11800,548,ENSG00000117118,ENST00000375499,CCDS176.1,SDHB,0.32,,,,,4.69525,26,P21912_R90X,R,X,90,RX,R90X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000937913,0,0.0319848,0.943372
330,P11182,S,G,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,0.859,0.775,0.902,0.9,0.97,0.94,0.78,0.91,43331,12324,ENSG00000137992,ENST00000370132,CCDS767.1,DBT,0.8,benign,0,tolerated,1,-0.687087,1.014,P11182_S384G,S,G,384,SG,S384G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,,,,,,,,,,,,0.00408787,0,0.139405,0.966222
346,P01222,E,X,32,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.04,,,,,,,,,93,829,ENSG00000134200,ENST00000256592,CCDS880.1,TSHB,0.23,,,,,3.39775,17.47,P01222_E32X,E,X,32,EX,E32X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00482668,0,0.1646,0.938141
537,P12259,R,T,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,0,0,0,0.001,,0.003,,,31183,8810,ENSG00000198734,ENST00000367796,,F5,0.15,benign,0.226,tolerated,0.1,1.46792,10.85,P12259_R334T,R,T,334,RT,R334T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.502,-3.389,1.887,,,,,,3.03,,60.7,0.000135815,0,0.00463159,0.930721
538,P12259,R,G,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,0.001,0.01,,,,31182,8811,ENSG00000198734,ENST00000367796,,F5,0.15,possibly_damaging,0.814,deleterious,0.01,3.03889,16.14,P12259_R334G,R,G,334,RG,R334G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.502,-3.384,1.882,,,,,,1.517,,60.7,0.000135815,0,0.00463159,0.895106
591,P01008,N,T,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,2743,58,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.36,benign,0.401,tolerated,0.48,2.73676,15.11,P01008_N167T,N,T,167,NT,N167T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,-1.511,-3.248,1.737,0.838,T,b,0.39,1.98,1.966,,55.6,0.00382999,0,0.130611,0.861309
673,P82279,R,C,652,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.07,0,0,0,,,,,,4801,98,ENSG00000134376,ENST00000367399,CCDS53454.1,CRB1,0.5,benign,0.026,tolerated,0.09,0.524394,6.841,P82279_R652C,R,C,652,RC,R652C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
755,O15228,R,C,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.07,,,,,,,,,780,737,ENSG00000116906,ENST00000366646,,GNPAT,0.24,probably_damaging,1,deleterious,0,3.40252,17.49,O15228_R150C,R,C,150,RC,R150C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
953,P36894,Q,X,239,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.08,,,,,,,,,78308,2091,ENSG00000107779,ENST00000224764,CCDS7378.1,BMPR1A,0.45,,,,,9.11431,41,P36894_Q239X,Q,X,239,QX,Q239X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1018,P33261,R,W,433,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,90114,336,ENSG00000165841,ENST00000371321,CCDS7436.1,CYP2C19,0.88,probably_damaging,0.985,deleterious,0.02,2.30425,13.66,P33261_R433W,R,W,433,RW,R433W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.237,-2.475,1.238,0.06,G,A,1.67,-0.39,7.803,7.803,15.71,0.00424137,0,0.144639,0.695547
1083,P21802,C,W,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.07,,,,,,,,,1453,43,ENSG00000066468,ENST00000336553,,FGFR2,0.38,probably_damaging,0.999,deleterious,0,3.52628,18,P21802_C253W,C,W,253,CW,C253W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,0.000721812,0.00176056,0.0246153,0.967687
1133,P10746,P,L,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,1133,7970,ENSG00000188690,ENST00000368797,CCDS7648.1,UROS,0.2,probably_damaging,1,deleterious,0,4.47161,23.9,P10746_P53L,P,L,53,PL,P53L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,0.023,G,A,1.07,-0.71,,,,0.00454558,0.00471698,0.155014,0.529438
1317,Q75V66,A,G,432,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,62309,27873,ENSG00000171714,ENST00000324559,CCDS31444.1,ANO5,0.47,possibly_damaging,0.774,deleterious,0,4.35349,22.9,Q75V66_A432G,A,G,432,AG,A432G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.57,-3.097,1.527,,,,,,4.007,,59.8,0.000536075,0,0.0182812,0.954901
1340,P19544,D,G,464,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.05,,,,,,,,,25585,2971,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.9,possibly_damaging,0.471,deleterious,0.01,4.72625,26.3,P19544_D464G,D,G,464,DG,D464G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,,,,0.942556
1376,P55895,C,W,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,456,89,ENSG00000175097,ENST00000311485,CCDS7903.1,RAG2,0.08,probably_damaging,0.98,deleterious,0,2.20266,13.32,P55895_C41W,C,W,41,CW,C41W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.194,-4.915,3.721,,,,,,,,,0.000686691,0,0.0234176,0.785034
1654,Q9ULV1,W,X,319,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0,,,,,,,,,3593,63,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.59,,,,,6.12556,37,Q9ULV1_W319X,W,X,319,WX,W319X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000197901,0,0.00674882,0.956807
1661,Q9ULV1,M,V,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,2949,346,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.2,probably_damaging,0.931,tolerated,0.94,1.19583,9.859,Q9ULV1_M105V,M,V,105,MV,M105V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.787,-1.867,0.08,,,,,,12.484,12.484,46.37,0.000985947,0,0.0336228,1.00547
1670,P53634,Q,X,243,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,3590,7,ENSG00000109861,ENST00000527018,,CTSC,0.99,,,,,4.82164,27.3,P53634_Q243X,Q,X,243,QX,Q243X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00407968,0,0.139126,0.955443
1692,P14679,P,L,406,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,0.004,0.001,0.005,,,,,,1038,10504,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.77,probably_damaging,0.998,deleterious,0,4.48542,24,P14679_P406L,P,L,406,PL,P406L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.515,-2.812,1.297,,,,,,15.12,15.12,68.24,0.00195283,0,0.0665956,0.944823
1693,P14679,G,R,419,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,1076,10466,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.79,probably_damaging,0.999,deleterious,0,4.54016,24.5,P14679_G419R,G,R,419,GR,G419R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.771,-3.99,3.219,,,,,,3.215,,64.84,0.00127935,0,0.0436284,0.82598
1744,Q9H6U8,E,K,359,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,537,26535,ENSG00000086848,ENST00000531154,CCDS41714.1,ALG9,0.8,probably_damaging,0.999,deleterious,0.01,5.34495,34,Q9H6U8_E359K,E,K,359,EK,E359K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
1763,Q03393,P,S,19,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,0.001,0.002,,,,2779,221,ENSG00000150787,ENST00000524931,,PTS,0.25,possibly_damaging,0.631,tolerated,0.29,3.6586,18.6,Q03393_P19S,P,S,19,PS,P19S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.0100382,0,0.342324,0.937414
1865,P48048,G,E,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,2734,26,ENSG00000151704,ENST00000324036,CCDS8477.1,KCNJ1,0.4,probably_damaging,0.995,deleterious,0.02,3.79024,19.24,P48048_G148E,G,E,148,GE,G148E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00237836,0,0.0811068,0.957627
1991,Q99959,W,X,494,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.05,,,,,,,,,55654,50249,ENSG00000057294,ENST00000340811,CCDS31771.1,PKP2,0.59,,,,,6.66935,38,Q99959_W494X,W,X,494,WX,W494X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
2208,P00439,L,F,333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,7857,690,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.74,probably_damaging,0.993,deleterious,0,4.04732,20.8,P00439_L333F,L,F,333,LF,L333F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.318,-3.428,2.11,,E,B,0.03,-0.51,3.552,,79.2,0.00300092,0,0.102338,0.762308
2271,Q06124,A,S,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,31480,36530,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.12,possibly_damaging,0.713,deleterious,0.03,5.05526,30,Q06124_A72S,A,S,72,AS,A72S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.491,-2.931,1.44,0.592,S,A,0.27,0.2,1.634,,64.42,0.000687245,0,0.0234365,0.880203
2272,Q06124,A,G,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,31481,36529,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.12,possibly_damaging,0.871,tolerated,0.06,4.96715,29,Q06124_A72G,A,G,72,AG,A72G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.491,-2.956,1.465,0.592,S,A,0.29,0.2,1.314,,64.42,0.000687245,0,0.0234365,0.885051
2285,Q99593,R,Q,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,18378,19424,ENSG00000089225,ENST00000405440,CCDS9173.1,TBX5,0.46,probably_damaging,0.999,deleterious,0,5.59304,35,Q99593_R237Q,R,Q,237,RQ,R237Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.402,.,B,0.56,0.83,,,,0.000524489,0,0.0178862,0.905622
2332,P29033,C,F,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,804,1505,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.89,probably_damaging,1,deleterious,0,3.35167,17.29,P29033_C202F,C,F,202,CF,C202F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-0.98,-4.162,3.182,0.048,H,A,0.12,-0.1,1.163,,53.54,0.00536507,0,0.18296,0.596442
2414,Q5TBB1,H,R,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,581,12689,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.28,probably_damaging,0.98,tolerated,0.23,2.03882,12.77,Q5TBB1_H86R,H,R,86,HR,H86R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.955,-3.704,1.749,0.035,E,B,1.03,-1.32,1.992,,80.13,0.00426311,0,0.145381,0.646179
2422,Q5TBB1,V,M,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,15349,52,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.59,probably_damaging,0.958,deleterious,0,1.64152,11.45,Q5TBB1_V183M,V,M,183,VM,V183M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.374,-3.918,2.544,0.1,.,B,0.11,0.64,3.089,,83.65,0.00478876,0,0.163307,0.77408
2461,P28715,R,X,263,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.01,,,,0.001,0.002,,,,16777,14375,ENSG00000134899,ENST00000355739,CCDS32004.1,ERCC5,0.22,,,,,16.0882,50,P28715_R263X,R,X,263,RX,R263X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000316491,0,0.010793,0.977351
2466,P49917,R,X,814,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.07,0,0,0,0.001,,,0.002,,5954,612,ENSG00000174405,ENST00000405925,CCDS9508.1,LIG4,0.89,,,,,8.36659,40,P49917_R814X,R,X,814,RX,R814X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00360669,0,0.122995,0.951177
2575,O43405,I,N,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,1323,1600,ENSG00000100473,ENST00000556908,,COCH,0.48,possibly_damaging,0.764,deleterious,0,4.70184,26.1,O43405_I93N,I,N,93,IN,I93N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,,,,,,,,,,,,0.000378677,0,0.0129137,0.977023
2602,Q10469,C,X,339,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,1196,1196,ENSG00000168282,ENST00000305386,CCDS9690.1,MGAT2,0.76,,,,,8.16796,40,Q10469_C339X,C,X,339,CX,C339X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00276356,0,0.094243,0.953637
2614,P06737,D,H,634,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,0.005,0.001,0.006,0.003,,0.01,,0.003,182,1560,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.75,probably_damaging,1,deleterious,0,4.72058,26.3,P06737_D634H,D,H,634,DH,D634H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.139,-4.191,3.052,0.159,.,B,0.58,1.22,,,,0.00022776,0,0.00776708,0.699654
2703,P49770,E,G,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.43,0.01,,,,,,,,,1,804,ENSG00000119718,ENST00000554748,,EIF2B2,0.01,possibly_damaging,0.874,deleterious,0,5.32351,34,P49770_E1G,E,G,1,EG,E1G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,,,,,,,,,,,,0.0018975,0.00571429,0.0647085,0.947115
2910,P06865,S,F,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,9278,44,ENSG00000213614,ENST00000566304,,HEXA,0.41,probably_damaging,0.999,deleterious,0,5.35083,34,P06865_S221F,S,F,221,SF,S221F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.00206013,0,0.0702547,0.950837
3263,Q86YC2,R,X,414,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,2630,730,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.35,,,,,6.91326,38,Q86YC2_R414X,R,X,414,RX,R414X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000384523,0,0.013113,0.977351
3386,#N/A,E,K,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.07,,,,,,,,,39675,25709,ENSG00000127688,ENST00000248272,CCDS10935.1,GAN,0.28,probably_damaging,0.995,deleterious,0,5.7389,36,#N/A_E169K,E,K,169,EK,E169K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
3441,P43034,H,R,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,60,11666,ENSG00000007168,ENST00000397195,CCDS32528.1,PAFAH1B1,0.36,probably_damaging,1,deleterious,0,4.8306,27.4,P43034_H149R,H,R,149,HR,H149R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-2.033,-3.086,1.053,0.118,.,B,1.03,-0.72,,,,0.00225419,0,0.0768724,0.753433
3595,P21359,Q,X,1341,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,16000,5263,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.47,,,,,12.7995,46,P21359_Q1341X,Q,X,1341,QX,Q1341X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
4041,Q16787,R,X,2270,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,34619,47425,ENSG00000053747,ENST00000313654,CCDS42419.1,LAMA3,0.68,,,,,13.8251,47,Q16787_R2270X,R,X,2270,RX,R2270X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4070,P02766,S,R,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,3252,721,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.48,possibly_damaging,0.752,deleterious,0.01,3.33602,17.23,P02766_S70R,S,R,70,SR,S70R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-2.325,-3.497,1.172,0.144,.,b,0.93,-0.47,20.362,20.362,90.48,0.00873768,0,0.297973,0.768609
4083,P02766,I,S,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,3353,620,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.71,benign,0.103,tolerated,0.73,-0.118997,3.417,P02766_I104S,I,S,104,IS,I104S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-2.46,-3.043,0.583,0.406,.,B,0.75,-0.23,11.37,11.37,79.59,0.00947756,0,0.323204,0.895258
4131,P32245,I,S,316,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,1366,72,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.95,possibly_damaging,0.885,deleterious,0,4.41674,23.4,P32245_I316S,I,S,316,IS,I316S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-1.544,-3.341,1.797,,,,,,2.569,,75,0.0112522,0,0.383723,0.858942
4634,Q07889,R,G,552,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,1050,103,ENSG00000115904,ENST00000395038,,SOS1,0.42,probably_damaging,0.999,deleterious,0,3.34027,17.24,Q07889_R552G,R,G,552,RG,R552G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.398,-3.094,1.696,,,,,,,,,0.00024391,0,0.00831784,0.870319
4696,P22888,E,K,327,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,18940,1068,ENSG00000138039,ENST00000405626,,LHCGR,0.49,probably_damaging,0.993,deleterious,0,4.95489,28.8,P22888_E327K,E,K,327,EK,E327K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00169739,0,0.0578846,0.923722
4758,Q9NZJ5,E,X,181,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,3253,7,ENSG00000172071,ENST00000419748,,EIF2AK3,0.19,,,,,7.04356,38,Q9NZJ5_E181X,E,X,181,EX,E181X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
4855,Q99250,V,I,892,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,48893,36338,ENSG00000136531,ENST00000283256,CCDS33314.1,SCN2A,0.44,probably_damaging,0.999,tolerated,0.17,4.15493,21.5,Q99250_V892I,V,I,892,VI,V892I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.376,-1.87,0.494,,,,,,17.673,17.673,65.09,,,,0.972877
4863,Q14435,Y,X,60,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.07,,,,,,,,,2465,825,ENSG00000115339,ENST00000409882,,GALNT3,0.16,,,,,4.59316,25,Q14435_Y60X,Y,X,60,YX,Y60X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
4890,Q15858,N,K,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,18006,6806,ENSG00000169432,ENST00000452182,,SCN9A,0.48,probably_damaging,0.998,deleterious,0,3.6564,18.59,Q15858_N260K,N,K,260,NK,N260K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,,,,0.947543
4896,O95342,E,G,297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,40504,67881,ENSG00000073734,ENST00000263817,CCDS46444.1,ABCB11,0.22,probably_damaging,0.999,deleterious,0,4.7249,26.3,O95342_E297G,E,G,297,EG,E297G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.158,-3.135,1.977,,,,,,,,,0.000428534,0,0.0146139,0.824865
4920,P15882,I,M,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.05,,,,,,,,,70,101,ENSG00000128656,ENST00000409156,CCDS46454.1,CHN1,0.29,benign,0.066,tolerated,0.72,0.434437,6.36,P15882_I126M,I,M,126,IM,I126M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.666,-3.841,2.175,,,,,,2.225,,70.15,0.00117669,0,0.0401275,0.957489
4938,P02461,G,D,666,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,24320,14054,ENSG00000168542,ENST00000317840,,COL3A1,0.57,,,deleterious,0,3.4118,17.53,P02461_G666D,G,D,666,GD,G666D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,0,,,,1.96e-05,0,0.000668688,0.660197
4962,P42224,L,S,708,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,895,188,ENSG00000115415,ENST00000392323,,STAT1,0.99,probably_damaging,0.985,deleterious,0,4.59282,25,P42224_L708S,L,S,708,LS,L708S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,,,,,,,,,,,,0.0047037,0,0.160406,0.914139
4984,Q13873,C,Y,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,153432,36886,ENSG00000204217,ENST00000374574,,BMPR2,0.65,probably_damaging,0.988,deleterious,0,4.78346,26.9,Q13873_C347Y,C,Y,347,CY,C347Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,E,B,0.25,-0.58,,,,0.000304252,0,0.0103756,0.569355
5003,Q9Y2I7,K,R,1047,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,59756,12,ENSG00000115020,ENST00000452564,,PIKFYVE,0.76,probably_damaging,0.984,tolerated,0.35,3.66498,18.63,Q9Y2I7_K1047R,K,R,1047,KR,K1047R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,,,,,,,,,,,,,,,0.960858
5290,Q9NPJ1,Q,X,148,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,18850,7889,ENSG00000125863,ENST00000399054,CCDS13111.1,MKKS,0.26,,,,,7.30926,39,Q9NPJ1_Q148X,Q,X,148,QX,Q148X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00178839,0,0.0609879,0.952897
5291,Q9NPJ1,H,Y,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,18658,8081,ENSG00000125863,ENST00000399054,CCDS13111.1,MKKS,0.15,probably_damaging,0.984,deleterious,0,4.26169,22.2,Q9NPJ1_H84Y,H,Y,84,HY,H84Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.325,-3.387,2.062,,,,,,1.609,,81.58,0.000646207,0,0.022037,0.911952
5420,O43526,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.43,0.05,,,,,,,,,41269,7346,ENSG00000075043,ENST00000359689,,KCNQ2,,,,,,3.28066,17.01,O43526_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5652,P30566,M,T,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,311,24,ENSG00000239900,ENST00000454266,,ADSL,0.48,benign,0.006,tolerated,0.05,2.6299,14.75,P30566_M239T,M,T,239,MT,M239T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.00313156,0,0.106793,0.966173
5653,P30566,K,E,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,1468,1155,ENSG00000239900,ENST00000454266,,ADSL,0.52,probably_damaging,0.997,deleterious,0,4.98852,29.2,P30566_K260E,K,E,260,KE,K260E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.00295618,0,0.100812,0.966806
5657,Q09472,R,X,648,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,49325,38967,ENSG00000100393,ENST00000263253,CCDS14010.1,EP300,0.27,,,,,15.7065,49,Q09472_R648X,R,X,648,RX,R648X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5857,P37173,M,V,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,67522,20012,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.75,probably_damaging,1,deleterious,0,4.49564,24.1,P37173_M425V,M,V,425,MV,M425V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.541,-2.631,1.09,,,,,,,,,,,,0.882881
5898,P40692,S,X,28,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.01,,,,,,,,,507,998,ENSG00000076242,ENST00000455445,CCDS54563.1,MLH1,0.05,,,,,10.2757,43,P40692_S28X,S,X,28,SX,S28X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000473801,0,0.0161576,0.980409
6046,O75030,S,P,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.11,,,,,,,,,22587,64,ENSG00000187098,ENST00000314589,CCDS46865.1,MITF,0.66,probably_damaging,0.998,deleterious,0,5.12788,32,O75030_S335P,S,P,335,SP,S335P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.0005299,0,0.0180707,0.992445
6294,P11168,R,X,301,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.05,,,,,,,,,2124,70,ENSG00000163581,ENST00000314251,CCDS3215.1,SLC2A2,0.57,,,,,2.93008,15.77,P11168_R301X,R,X,301,RX,R301X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00118411,0,0.0403806,0.908362
6396,Q9Y5I7,G,D,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,20299,1590,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.76,probably_damaging,0.987,deleterious,0,4.62703,25.3,Q9Y5I7_G233D,G,D,233,GD,G233D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,,,,,0.00238009,0,0.0811658,0.786089
6482,Q9P2K1,R,C,1528,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,9987,1758,ENSG00000048342,ENST00000503292,CCDS47026.1,CC2D2A,0.94,probably_damaging,0.995,deleterious,0,4.01565,20.6,Q9P2K1_R1528C,R,C,1528,RC,R1528C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.459,-4.953,3.494,,,,,,0.4,,46.42,,,,0.734283
6508,P10721,K,E,638,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,70136,10957,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.66,probably_damaging,0.999,deleterious,0,5.03341,29.8,P10721_K638E,K,E,638,KE,K638E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.000350166,0,0.0119414,0.993678
6515,P10721,T,P,843,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,78633,2460,ENSG00000157404,ENST00000412167,CCDS47058.1,KIT,0.87,probably_damaging,0.955,deleterious,0,3.55811,18.14,P10721_T843P,T,P,843,TP,T843P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.00115689,0,0.0394523,0.925556
6581,Q8N5K1,E,Q,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.05,,,,,,,,,15885,172,ENSG00000145354,ENST00000273986,CCDS34040.1,CISD2,0.27,benign,0.348,tolerated,0.22,4.0121,20.6,Q8N5K1_E37Q,E,Q,37,EQ,E37Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-1.255,-2.96,1.705,,,,,,,,,0.00869764,0,0.296607,0.850088
6585,Q16836,P,L,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.07,,,,,,,,,239,1254,ENSG00000138796,ENST00000309522,CCDS3678.1,HADH,0.82,probably_damaging,1,deleterious,0,5.35466,34,Q16836_P258L,P,L,258,PL,P258L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,H,A,1.07,-0.73,,,,0.00178124,0,0.0607439,0.558028
6665,Q6ZWL3,H,P,331,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,367,5598,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.63,probably_damaging,0.999,deleterious,0,3.69866,18.79,Q6ZWL3_H331P,H,P,331,HP,H331P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-1.124,-3.735,2.611,,,,,,,,,0.00179969,0,0.0613731,0.780311
6670,Q6ZWL3,R,H,390,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.07,,,,,,,,,37,1859,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.74,probably_damaging,1,deleterious,0,5.49261,35,Q6ZWL3_R390H,R,H,390,RH,R390H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,,,,,,,,,0.000547096,0,0.0186571,0.824461
6675,Q6ZWL3,R,H,508,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,1607,216,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.97,probably_damaging,0.99,deleterious,0,4.96093,28.9,Q6ZWL3_R508H,R,H,508,RH,R508H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,,,,,,,,,0.00499227,0,0.170247,0.778493
6693,P31040,A,V,524,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,160,349,ENSG00000073578,ENST00000264932,CCDS3853.1,SDHA,0.79,probably_damaging,0.935,deleterious,0,3.7823,19.2,P31040_A524V,A,V,524,AV,A524V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.307,-2.76,1.453,0.262,S,b,0.44,0.61,,,,0.00191969,0,0.0654653,0.858937
6765,P02748,R,X,116,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.05,,,,0.004,0.01,,,,23220,195,ENSG00000113600,ENST00000263408,CCDS3929.1,C9,0.21,,,,,3.21007,16.75,P02748_R116X,R,X,116,RX,R116X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00191267,0,0.0652258,0.959275
6800,O96007,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.43,0.07,,,,,,,,,926,6046,ENSG00000164172,ENST00000396954,CCDS3958.1,MOCS2,0.01,,,deleterious,0,4.20031,21.8,O96007_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.806,-3.079,1.273,,,,,,5.632,,70.74,,,,1.02021
6817,P07686,Y,S,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,0.001,,,,0.001,630,1916,ENSG00000049860,ENST00000511181,,HEXB,0.7,possibly_damaging,0.61,tolerated,0.15,3.22466,16.81,P07686_Y231S,Y,S,231,YS,Y231S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,,,,,,,,,,,,0.00363823,0,0.124071,0.92896
6858,P49419,E,Q,363,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.08,0.001,0,0.001,0.001,,,0.002,,44,38,ENSG00000164904,ENST00000553117,,ALDH7A1,0.76,probably_damaging,1,deleterious,0,4.99662,29.3,P49419_E363Q,E,Q,363,EQ,E363Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,,,,,,,,,,,,0.00201254,0,0.0686319,0.983886
6883,Q9Y6B6,S,R,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,6077,20,ENSG00000152700,ENST00000509730,,SAR1B,0.94,probably_damaging,0.985,deleterious,0.02,3.88549,19.75,Q9Y6B6_S111R,S,R,111,SR,S111R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.607,-3.485,1.878,0.032,H,A,0.93,-0.48,2.731,,86.36,0.00655788,0,0.223637,0.767535
6937,P04150,V,A,571,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,89482,42,ENSG00000113580,ENST00000394464,CCDS4278.1,NR3C1,0.73,probably_damaging,0.989,deleterious,0,5.04692,29.9,P04150_V571A,V,A,571,VA,V571A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.201,-2.63,1.429,0.042,H,A,0.44,-0.94,,,,0.000990539,0,0.0337794,0.742247
6962,P50443,C,S,653,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,0,0,0,,,,,,3570,5856,ENSG00000155850,ENST00000286298,CCDS4300.1,SLC26A2,0.88,probably_damaging,0.998,deleterious,0.01,3.29685,17.08,P50443_C653S,C,S,653,CS,C653S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.111,-3.241,2.13,,,,,,,,,0.00458138,0,0.156234,0.80085
7183,P22033,R,C,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,0.001,,0.003,,,4047,28785,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.14,probably_damaging,1,deleterious,0,2.71318,15.03,P22033_R108C,R,C,108,RC,R108C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-0.863,-5.087,4.224,0.107,E,B,1.66,-0.8,,,,0.000169372,0,0.00577593,0.496543
7237,Q03692,W,X,611,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.01,,,,,,,,,874,1258,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.9,,,,,8.0233,40,Q03692_W611X,W,X,611,WX,W611X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00588338,0,0.200635,0.899334
7243,Q03692,G,E,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,461,101,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.03,,,deleterious,0,1.80842,12.01,Q03692_G18E,G,E,18,GE,G18E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.082,-2.094,1.012,,,,,,21.624,21.624,72.79,0.000544462,0,0.0185673,0.968689
7286,O00628,L,X,292,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.01,0,0,0.001,,,,,,75628,15687,ENSG00000112357,ENST00000318471,CCDS5180.1,PEX7,0.9,,,,,5.60074,36,O00628_L292X,L,X,292,LX,L292X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.0089835,0,0.306356,0.915247
7488,P21439,P,S,1114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.05,,,,,,,,,1942,373,ENSG00000005471,ENST00000453593,CCDS5607.1,ABCB4,0.9,probably_damaging,0.978,deleterious,0,3.68725,18.73,P21439_P1114S,P,S,1114,PS,P1114S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.000789441,0,0.0269216,0.994616
7516,O43556,R,X,102,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.04,,,,,,,,,27811,4960,ENSG00000127990,ENST00000447873,,SGCE,0.24,,,,,5.82265,36,O43556_R102X,R,X,102,RX,R102X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00175351,0,0.0597984,0.939024
7518,P27169,Q,R,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,0.412,0.66,0.285,0.52,0.64,0.48,0.75,0.29,16343,9220,ENSG00000005421,ENST00000542556,,PON1,0.54,benign,0,tolerated,0.64,-1.169,0.09,P27169_Q192R,Q,R,192,QR,Q192R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-2.379,-2.089,-0.29,,,,,,32.078,32.078,93.24,0.0047962,0,0.16356,1.01378
7561,O43511,G,E,259,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,0,0,0,,,,,,211,154,ENSG00000091137,ENST00000544569,,SLC26A4,0.71,possibly_damaging,0.821,deleterious,0,3.61275,18.39,O43511_G259E,G,E,259,GE,G259E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00160958,0,0.0548901,0.900764
7641,P13569,H,R,1055,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.05,,,,,,,,,78,6904,ENSG00000001626,ENST00000426809,,CFTR,0.73,probably_damaging,0.999,deleterious,0,4.6124,25.2,P13569_H1055R,H,R,1055,HR,H1055R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.000914929,0,0.031201,1.00518
7642,P13569,W,X,1059,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.05,,,,,,,,,90,6916,ENSG00000001626,ENST00000426809,,CFTR,0.74,,,,,10.0061,43,P13569_W1059X,W,X,1059,WX,W1059X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000763351,0,0.0260318,0.956807
7647,P13569,G,E,1219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,4950,24606,ENSG00000001626,ENST00000426809,,CFTR,0.85,probably_damaging,1,deleterious,0,4.33489,22.8,P13569_G1219E,G,E,1219,GE,G1219E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.000741356,0,0.0252818,0.976396
7648,P13569,S,N,1221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,4944,24600,ENSG00000001626,ENST00000426809,,CFTR,0.85,probably_damaging,0.977,deleterious,0,4.61727,25.2,P13569_S1221N,S,N,1221,SN,S1221N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,0.00108608,0,0.0370375,0.928016
7676,P51857,P,L,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,0,0,0,,,,,,30144,10246,ENSG00000122787,ENST00000432161,CCDS55169.1,AKR1D1,0.68,probably_damaging,0.98,tolerated,0.11,4.19682,21.8,P51857_P198L,P,L,198,PL,P198L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,T,A,1.07,-0.87,,,,0.00485913,0,0.165706,0.52792
7686,P15056,G,R,534,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,6152,42409,ENSG00000157764,ENST00000288602,CCDS5863.1,BRAF,0.7,probably_damaging,1,deleterious,0,5.06606,31,P15056_G534R,G,R,534,GR,G534R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.008,-3.615,2.607,0.207,S,g,0.91,-0.28,,,,0.000696074,0,0.0237375,0.610592
7804,P06858,Y,X,329,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,17081,11207,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.69,,,,,9.88215,43,P06858_Y329X,Y,X,329,YX,Y329X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00203135,0,0.0692732,0.953488
7876,Q9P2D1,I,V,1028,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,81194,2789,ENSG00000171316,ENST00000307121,,CHD7,0.34,possibly_damaging,0.671,tolerated,0.05,4.23231,22,Q9P2D1_I1028V,I,V,1028,IV,I1028V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.436,-2.139,0.703,,,,,,,,,,,,0.940475
7878,Q9P2D1,E,X,1271,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.01,,,,,,,,,94740,30370,ENSG00000171316,ENST00000307121,,CHD7,0.42,,,,,13.3219,47,Q9P2D1_E1271X,E,X,1271,EX,E1271X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
7886,O75881,S,F,363,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.07,,,,,,,,,10988,8692,ENSG00000172817,ENST00000310193,CCDS6180.1,CYP7B1,0.72,possibly_damaging,0.874,deleterious,0.03,3.31282,17.14,O75881_S363F,S,F,363,SF,S363F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-2.05,-4.113,2.063,,,,,,2.358,,76.48,,,,0.852721
7958,Q8WW38,E,G,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,0.005,0.002,0.006,0.002,,,,0.01,48,69,ENSG00000169946,ENST00000407775,CCDS47908.1,ZFPM2,0.03,benign,0.259,tolerated,0.07,2.98077,15.94,Q8WW38_E30G,E,G,30,EG,E30G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.386,-3.088,1.702,,,,,,2.799,,59.51,0.000223041,0,0.00760615,0.911237
8034,P23378,S,I,564,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,0,0,0,,,,,,16856,791,ENSG00000178445,ENST00000321612,CCDS34987.1,GLDC,0.55,benign,0.361,deleterious,0,1.90668,12.33,P23378_S564I,S,I,564,SI,S564I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-1.468,-3.516,2.048,,,,,,2.678,,62.35,0.000998547,0,0.0340525,0.871421
8110,Q16595,N,K,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,18584,7806,ENSG00000165060,ENST00000484259,,FXN,0.41,possibly_damaging,0.895,deleterious,0,4.18161,21.7,Q16595_N44K,N,K,44,NK,N44K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.00373369,0,0.127327,0.958815
8111,Q16595,Q,R,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,18589,7801,ENSG00000165060,ENST00000484259,,FXN,0.43,benign,0.222,deleterious,0,3.94143,20.2,Q16595_Q46R,Q,R,46,QR,Q46R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,0.00450055,0,0.153478,0.957432
8126,Q8TDI8,C,R,515,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,291,43733,ENSG00000165091,ENST00000297784,CCDS6643.1,TMC1,0.68,probably_damaging,1,deleterious,0,4.28918,22.4,Q8TDI8_C515R,C,R,515,CR,C515R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.038,-4.033,2.995,,,,,,6.008,,56.05,0.00208014,0.00408163,0.0709369,0.812176
8163,Q13635,S,G,826,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,0.001,0.004,,,,1993,91,ENSG00000185920,ENST00000375274,CCDS47995.1,PTCH1,0.57,benign,0.004,tolerated,0.47,1.39406,10.59,Q13635_S826G,S,G,826,SG,S826G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,,,,,,,,,,,,,,,0.951769
8184,P36897,S,L,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.07,,,,,,,,,10090,59,ENSG00000106799,ENST00000550253,,TGFBR1,0.4,probably_damaging,1,deleterious,0,5.33341,34,P36897_S172L,S,L,172,SL,S172L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.842,-3.215,1.373,0.384,.,B,0.82,-0.56,5.168,,79.13,0.0016511,0,0.0563059,0.873557
8308,Q7Z333,L,F,1977,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,14950,35467,ENSG00000107290,ENST00000372169,,SETX,0.73,probably_damaging,0.999,deleterious,0,3.05501,16.2,Q7Z333_L1977F,L,F,1977,LF,L1977F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-0.972,-3.473,2.501,,,,,,,,,,,,0.791187
8309,Q7Z333,L,R,1976,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,14948,35469,ENSG00000107290,ENST00000372169,,SETX,0.73,probably_damaging,0.994,deleterious,0,3.80059,19.3,Q7Z333_L1976R,L,R,1976,LR,L1976R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.076,-3.877,2.801,,,,,,1.36,,74.3,,,,0.819937
8386,Q99217,W,S,4,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,1386,5955,ENSG00000125363,ENST00000380712,CCDS14145.1,AMELX,0.02,probably_damaging,0.999,deleterious,0,3.82007,19.4,Q99217_W4S,W,S,4,WS,W4S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.198,-3.613,2.415,,,,,,,,,0.00579359,0,0.197573,0.703489
8395,P37287,Q,X,55,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.04,,,,,,,,,225,6739,ENSG00000165195,ENST00000333590,CCDS14165.1,PIGA,0.11,,,,,6.59139,37,P37287_Q55X,Q,X,55,QX,Q55X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8403,O76039,R,S,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.05,,,,,,,,,142136,69302,ENSG00000008086,ENST00000379989,CCDS14186.1,CDKL5,0.17,probably_damaging,1,deleterious,0,4.06534,20.9,O76039_R175S,R,S,175,RS,R175S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.281,-3.163,1.882,,,,,,,,,,,,0.813888
8426,P08559,D,N,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,1577,67,ENSG00000131828,ENST00000540249,CCDS55382.1,PDHA1,0.79,probably_damaging,1,deleterious,0,5.72976,36,P08559_D284N,D,N,284,DN,D284N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00506988,0,0.172893,0.965786
8517,P11532,Q,X,60,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,67,8,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.02,,,,,6.24478,37,P11532_Q60X,Q,X,60,QX,Q60X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8520,P51811,Q,X,299,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0,,,,,,,,,42263,4109,ENSG00000047597,ENST00000378616,CCDS14241.1,XK,0.67,,,,,6.74169,38,P51811_Q299X,Q,X,299,QX,Q299X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00159387,0,0.0543543,0.904853
8647,P00480,L,S,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,33,2337,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.42,probably_damaging,0.996,deleterious,0,4.46909,23.9,P00480_L148S,L,S,148,LS,L148S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.706,-3.845,2.139,,H,A,0.82,-0.15,3.496,,58.76,0.00506133,0,0.172602,0.576362
8648,P00480,L,W,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,33,2337,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.42,probably_damaging,0.999,deleterious,0,4.57523,24.8,P00480_L148W,L,W,148,LW,L148W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,-1.706,-5.539,3.833,,H,A,0.08,-0.15,1.072,,58.76,0.00506133,0,0.172602,0.584731
8661,P00480,N,D,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,6,2299,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.45,probably_damaging,0.993,deleterious,0,4.91136,28.3,P00480_N161D,N,D,161,ND,N161D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-0.815,-3.261,2.446,,E,B,0.14,-0.71,2.685,,54.8,0.00111069,0,0.0378768,0.613123
8662,P00480,N,S,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,7,2298,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.45,possibly_damaging,0.856,deleterious,0.02,4.78378,26.9,P00480_N161S,N,S,161,NS,N161S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-0.815,-2.315,1.5,,E,B,0.34,-0.71,12.052,12.052,54.8,0.00111069,0,0.0378768,0.760354
8665,P00480,G,E,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,10,2295,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.46,probably_damaging,0.999,deleterious,0,4.53193,24.4,P00480_G162E,G,E,162,GE,G162E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.078,-3.784,2.706,,S,A,0.75,-0.83,2.104,,52.26,0.00403414,0,0.137572,0.535179
8770,P00480,R,Q,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,7625,2902,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.78,probably_damaging,0.996,deleterious,0,5.34337,34,P00480_R277Q,R,Q,277,RQ,R277Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.034,-3.739,2.705,0.021,H,A,0.56,0.45,2.5,,81.36,0.00219758,0,0.0749421,0.766937
8771,P00480,R,L,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,7625,2902,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.78,probably_damaging,0.995,deleterious,0,5.00021,29.4,P00480_R277L,R,L,277,RL,R277L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.034,-3.627,2.593,0.021,H,A,1.75,0.45,3.21,,81.36,0.00219758,0,0.0749421,0.717739
8779,P00480,H,R,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,10536,10,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.85,probably_damaging,1,deleterious,0,3.70247,18.81,P00480_H302R,H,R,302,HR,H302R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-0.746,-2.884,2.138,0.006,E,B,1.03,-0.67,27.504,27.504,79.94,0.00206561,0,0.0704414,0.732321
8780,P00480,H,L,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,10536,10,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.85,probably_damaging,1,deleterious,0,4.04052,20.7,P00480_H302L,H,L,302,HL,H302L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-0.746,-3.734,2.988,0.006,E,B,0.72,-0.67,3.747,,79.94,0.00206561,0,0.0704414,0.664843
8781,P00480,H,Q,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,10537,11,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.85,probably_damaging,1,deleterious,0,3.32666,17.19,P00480_H302Q,H,Q,302,HQ,H302Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-0.746,-3.825,3.079,0.006,E,B,0.47,-0.67,3.85,,79.94,0.00206561,0,0.0704414,0.697064
8797,P00480,R,L,320,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,10590,64,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.9,possibly_damaging,0.635,deleterious,0,1.92456,12.39,P00480_R320L,R,L,320,RL,R320L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.946,-3.387,1.441,0.402,T,A,1.75,0.53,16.23,16.23,93.5,0.00536545,0,0.182973,0.901214
8799,P00480,E,K,326,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,10607,81,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.92,probably_damaging,0.994,deleterious,0,5.21162,33,P00480_E326K,E,K,326,EK,E326K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.102,-2.846,1.744,0.005,H,A,1.3,-0.96,10.723,10.723,87.01,0.00582693,0,0.19871,0.71499
8800,P00480,E,X,328,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.01,,,,,,,,,10613,87,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.93,,,,,6.07561,37,P00480_E328X,E,X,328,EX,E328X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00563353,0,0.192115,0.93144
8811,P00480,V,L,337,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,68481,425,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.95,benign,0.009,tolerated,0.18,1.9852,12.6,P00480_V337L,V,L,337,VL,V337L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.605,-1.786,0.181,,H,A,0.11,-0.78,26.626,26.626,53.67,0.00747755,0,0.255,0.891599
8912,P51795,G,V,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,16536,6372,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.35,probably_damaging,0.943,deleterious,0.02,4.32298,22.7,P51795_G260V,G,V,260,GV,G260V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,,,,,,,,,0.000924276,0,0.0315197,0.80525
8938,Q7Z6Z7,R,C,4187,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,815,454,ENSG00000086758,ENST00000342160,CCDS35301.1,HUWE1,0.96,,,,,2.39759,13.98,Q7Z6Z7_R4187C,R,C,4187,RC,R4187C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.582,-4.769,3.187,0.752,G,A,1.66,1.03,,,,,,,0.65643
8999,P10275,R,H,309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.05,,,,,,,,,154010,1038,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.8,benign,0.054,deleterious,0.02,3.62837,18.46,P10275_R309H,R,H,309,RH,R309H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000966734,0,0.0329676,0.933336
9123,P24386,C,X,351,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.43,0.03,,,,,,,,,153104,29871,ENSG00000188419,ENST00000537751,,CHM,0.7,,,,,5.90424,36,P24386_C351X,C,X,351,CX,C351X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
9143,Q06187,W,R,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,106,560,ENSG00000010671,ENST00000372880,,BTK,0.84,probably_damaging,0.956,deleterious,0,4.01888,20.6,Q06187_W405R,W,R,405,WR,W405R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00124173,0,0.0423455,0.902301
9146,Q06187,L,P,366,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,415,950,ENSG00000010671,ENST00000372880,,BTK,0.76,probably_damaging,0.978,deleterious,0,4.51374,24.3,Q06187_L366P,L,P,366,LP,L366P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00150052,0,0.0511708,0.905673
9165,Q06187,R,H,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.07,,,,,,,,,10947,896,ENSG00000010671,ENST00000372880,,BTK,0.06,probably_damaging,0.998,deleterious,0,4.77927,26.9,Q06187_R28H,R,H,28,RH,R28H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.085,E,B,1.03,-0.99,,,,0.000391351,0,0.0133459,0.581265
9176,P06280,G,A,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,309,131,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.76,possibly_damaging,0.802,deleterious,0,4.67291,25.8,P06280_G328A,G,A,328,GA,G328A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.763,-2.708,1.945,,.,b,0.29,-0.92,,,,0.00214584,0,0.0731775,0.719938
9178,P06280,Q,K,327,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,305,127,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.76,probably_damaging,0.997,deleterious,0.01,4.95206,28.8,P06280_Q327K,Q,K,327,QK,Q327K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,-1.28,-2.986,1.706,0.044,.,B,1.7,-0.78,3.146,,69.46,0.00306879,0,0.104652,0.662081
9183,P06280,Q,E,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,161,18,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.65,benign,0.4,deleterious,0.04,4.16442,21.5,P06280_Q279E,Q,E,279,QE,Q279E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,-1.16,-2.621,1.461,0.006,H,A,0.4,-0.67,,,,0.00374997,0,0.127882,0.807731
9194,P06280,W,R,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,842,325,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.38,probably_damaging,0.999,deleterious,0,4.61165,25.2,P06280_W162R,W,R,162,WR,W162R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.036,-4.014,2.978,0.169,H,A,1.67,0.09,,,,0.000450537,0,0.0153642,0.676414
9242,P60891,I,T,290,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,10586,307,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.91,benign,0.252,deleterious,0.02,2.6446,14.8,P60891_I290T,I,T,290,IT,I290T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-2.039,-3.025,0.986,0.15,E,B,0.7,-0.45,,,,0.00604354,0,0.206097,0.733339
9263,P29400,G,R,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,136055,121605,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.11,,,deleterious,0,3.97112,20.3,P29400_G192R,G,R,192,GR,G192R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.074,-3.773,2.699,,,,,,2.348,,79.35,2.42e-05,0,0.000825799,0.847296
9275,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.43,0,,,,,,,,,138503,119157,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.40302,23.3,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9313,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.43,0,,,,,,,,,13110,31668,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,3.07706,16.27,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9318,P29400,G,D,536,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,14904,29874,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.32,,,deleterious,0,3.91882,19.93,P29400_G536D,G,D,536,GD,G536D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,5.88e-05,0,0.0020036,0.812925
9328,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.43,0,,,,,,,,,16209,28569,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,2.93713,15.79,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9383,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.43,0,,,,,,,,,3532,348,ENSG00000188153,ENST00000505728,,COL4A5,,,,,,3.63517,18.49,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9409,P29400,G,C,1205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,228445,29215,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.71,,,deleterious,0,3.556,18.13,P29400_G1205C,G,C,1205,GC,G1205C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.861,-4.864,4.003,,,,,,,,,1.27e-05,0,0.000433858,0.792807
9511,Q8IWS0,H,R,230,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.01,,,,,,,,,40550,1370,ENSG00000156531,ENST00000394292,,PHF6,0.63,probably_damaging,0.973,tolerated,0.19,3.56026,18.15,Q8IWS0_H230R,H,R,230,HR,H230R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00329025,0,0.112204,0.978775
9524,P00492,D,V,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0,,,,,,,,,1911,23357,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.37,possibly_damaging,0.653,deleterious,0.01,3.99852,20.5,P00492_D80V,D,V,80,DV,D80V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.431,-3.434,2.003,0.555,H,A,1.19,-0.62,2.41,,77.06,0.00847368,0.00724638,0.28897,0.792749
9577,P00740,Q,P,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,10320,7308,ENSG00000101981,ENST00000218099,CCDS14666.1,F9,0.21,probably_damaging,0.998,deleterious,0,3.75858,19.08,P00740_Q96P,Q,P,96,QP,Q96P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.386,-3.525,2.139,0.602,T,A,0.12,1.18,0.952,,32.75,0.00246458,0,0.0840472,0.780596
9600,P00740,P,L,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,30918,389,ENSG00000101981,ENST00000394090,,F9,0.7,probably_damaging,1,deleterious,0,3.76288,19.1,P00740_P295L,P,L,295,PL,P295L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00330941,0,0.112858,0.957943
9603,P00740,V,A,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.03,,,,,,,,,30978,329,ENSG00000101981,ENST00000394090,,F9,0.74,probably_damaging,1,deleterious,0,4.4093,23.4,P00740_V315A,V,A,315,VA,V315A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,,,,,,,,,,,,0.0012033,0,0.0410352,0.914271
9664,Q13496,N,S,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,72686,4566,ENSG00000171100,ENST00000542741,,MTM1,0.23,possibly_damaging,0.857,deleterious,0,4.47565,23.9,Q13496_N94S,N,S,94,NS,N94S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00103946,0,0.0354477,0.924471
9798,O60832,T,A,357,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.43,0.04,,,,,,,,,19,2111,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.69,benign,0.159,tolerated,0.13,3.14949,16.53,O60832_T357A,T,A,357,TA,T357A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.245,-2.588,1.343,,,,,,,,,0.00181262,0,0.0618139,0.893667
28,Q9HC77,T,A,97,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.01,0,0,0,,,,,,10100,29697,ENSG00000151849,ENST00000381884,CCDS9310.1,CENPJ,0.07,benign,0.001,tolerated,0.44,-0.514139,1.65,Q9HC77_T97A,T,A,97,TA,T97A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.768,-2.171,0.403,,,,,,23.034,23.034,9.19,0.000415546,0,0.0164339,0.947849
70,Q96SN8,S,F,762,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.03,,,,,,,,,28211,13716,ENSG00000136861,ENST00000416449,,CDK5RAP2,0.59,probably_damaging,0.962,deleterious,0,3.02175,16.08,Q96SN8_S762F,S,F,762,SF,S762F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,,,,0.933289
84,Q96QU1,S,A,19,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.03,0.216,0.15,0.25,0.21,0.15,0.29,0.14,0.26,136981,285385,ENSG00000150275,ENST00000437009,,PCDH15,0.01,benign,0.033,deleterious,0.02,0.467173,6.536,Q96QU1_S19A,S,A,19,SA,S19A,Polar,Hydrophobic,5.68,6,0.32,105,89,-16,89,88.6,-0.4,99,-2.295,-2.28,-0.015,,,,,,22.743,22.743,69.21,,,,0.992381
126,Q6PI48,K,R,196,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.05,0.029,0.084,0,0.02,,0.01,0.08,,8811,25075,ENSG00000117593,ENST00000361951,CCDS1311.1,DARS2,0.3,benign,0.039,tolerated,0.29,2.63244,14.76,Q6PI48_K196R,K,R,196,KR,K196R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-2.327,-2.847,0.52,,,,,,29.763,29.763,83.1,0.00303006,0,0.119832,1.01895
136,Q15468,A,V,86,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.08,0.593,0.82,0.477,0.61,0.59,0.57,0.86,0.47,517,8,ENSG00000123473,ENST00000337817,CCDS548.1,STIL,0.07,benign,0,tolerated,1,-0.118387,3.42,Q15468_A86V,A,V,86,AV,A86V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-2.408,-1.199,-1.209,,,,,,25.166,25.166,93.47,0.000538577,0,0.0212996,1.02711
142,Q15165,S,C,311,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.03,0.247,0.284,0.228,0.26,0.18,0.24,0.36,0.25,6241,124,ENSG00000105854,ENST00000222572,CCDS5640.1,PON2,0.88,benign,0.01,deleterious,0.01,1.92095,12.38,Q15165_S311C,S,C,311,SC,S311C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.00624822,0,0.247103,0.929755
283,P16109,T,P,756,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.01,0.078,0.022,0.106,0.04,0.004,0.06,0.01,0.09,24465,5256,ENSG00000174175,ENST00000263686,CCDS1282.1,SELP,0.91,benign,0.27,tolerated,0.12,0.457412,6.484,P16109_T756P,T,P,756,TP,T756P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-2.683,-3.077,0.394,,,,,,10.431,10.431,81.08,0.00180918,0,0.0715492,1.01399
292,P10071,A,V,803,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.04,,,,,,,,,184836,3537,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.51,benign,0.003,tolerated,0.18,2.41983,14.05,P10071_A803V,A,V,803,AV,A803V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-2.009,-2.817,0.808,,,,,,21.436,21.436,41.77,0.000553276,0,0.0218809,0.955779
317,P02774,T,K,436,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.03,0.227,0.106,0.289,0.22,0.28,0.24,0.07,0.25,1873,10867,ENSG00000145321,ENST00000273951,CCDS3550.1,GC,0.92,benign,0.014,tolerated,0.72,-0.371885,2.25,P02774_T436K,T,K,436,TK,T436K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,,,,,,,,,,,,0.00770306,0,0.304639,0.935608
328,P02768,K,E,584,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.04,,,,,,,,,57,59,ENSG00000163631,ENST00000509063,,ALB,0.97,benign,0.014,tolerated,0.2,2.08188,12.92,P02768_K584E,K,E,584,KE,K584E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.767,-2.686,0.919,0.863,T,b,1.3,3.27,11.365,11.365,81.28,0.00535205,0,0.211662,0.923378
355,P00451,M,V,2257,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0,0.086,0.237,0,0.07,,0.03,0.31,0.002,25755,24768,ENSG00000185010,ENST00000360256,CCDS35457.1,F8,0.96,benign,0.289,tolerated,0.67,0.664274,7.559,P00451_M2257V,M,V,2257,MV,M2257V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,,,,0.948715
370,O75445,A,T,125,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.01,0.719,0.758,0.699,0.76,0.8,0.71,0.81,0.73,1433,248018,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.08,benign,0.002,tolerated,1,0.44063,6.393,O75445_A125T,A,T,125,AT,A125T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,,,,0.956543
386,O75445,R,H,2292,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.05,0.022,0.005,0.03,0.01,,0.01,,0.03,452690,347813,ENSG00000042781,ENST00000366943,,USH2A,0.44,benign,0.001,tolerated,0.66,-0.592039,1.349,O75445_R2292H,R,H,2292,RH,R2292H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
387,O75445,T,I,3835,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.01,0.202,0.143,0.233,0.18,0.1,0.22,0.17,0.23,680176,120327,ENSG00000042781,ENST00000366943,,USH2A,0.73,benign,0.092,tolerated,0.17,2.03607,12.76,O75445_T3835I,T,I,3835,TI,T3835I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,,,,0.9508
391,O60260,R,W,338,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.44,0.04,0,0.001,0,0.002,0.01,,,,1340804,36766,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.77,possibly_damaging,0.806,deleterious,0,3.49045,17.85,O60260_R338W,R,W,338,RW,R338W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00381454,0,0.150857,0.960989
13,Q99497,M,I,26,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,96,8186,ENSG00000116288,ENST00000377488,CCDS93.1,PARK7,0.14,benign,0.003,deleterious,0.03,3.39033,17.44,Q99497_M26I,M,I,26,MI,M26I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.998,-2.792,0.794,,H,A,0.07,-0.88,,,,0.00453945,0,0.154805,0.837827
345,P23109,R,W,388,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,0.002,0.005,0,0.001,,,0.01,,17615,4858,ENSG00000116748,ENST00000353928,,AMPD1,0.52,probably_damaging,1,deleterious,0,4.15702,21.5,P23109_R388W,R,W,388,RW,R388W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
348,P01222,Q,X,69,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0,0,0,0,,,,,,652,270,ENSG00000134200,ENST00000256592,CCDS880.1,TSHB,0.5,,,,,4.56458,24.7,P01222_Q69X,Q,X,69,QX,Q69X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00373684,0,0.127434,0.955443
374,Q6ZVN8,I,N,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,0,0,0,,,,,,3041,859,ENSG00000168509,ENST00000336751,CCDS910.1,HFE2,0.52,probably_damaging,0.963,deleterious,0,4.13322,21.3,Q6ZVN8_I222N,I,N,222,IN,I222N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.345,-4.016,2.671,,,,,,1.396,,84.74,0.00460026,0,0.156878,0.854785
520,Q16832,T,I,713,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,143755,4197,ENSG00000162733,ENST00000367921,CCDS1241.1,DDR2,0.83,probably_damaging,1,deleterious,0,4.82165,27.3,Q16832_T713I,T,I,713,TI,T713I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.245,-3.296,2.051,,,,,,,,,0.00125307,0,0.0427322,0.770051
541,Q5T7V8,R,X,287,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.05,,,,,,,,,7496,141,ENSG00000120370,ENST00000367763,CCDS1289.1,GORAB,0.73,,,,,5.50503,35,Q5T7V8_R287X,R,X,287,RX,R287X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
544,P31513,N,S,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,3072,3904,ENSG00000007933,ENST00000392085,CCDS1292.1,FMO3,0.11,probably_damaging,0.998,deleterious,0,3.77118,19.15,P31513_N61S,N,S,61,NS,N61S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.144,-2.837,1.693,,,,,,3.368,,36.47,0.000614278,0,0.0209482,0.932565
545,P31513,G,X,148,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,7033,42,ENSG00000007933,ENST00000367755,CCDS1292.1,FMO3,0.28,,,,,3.13066,16.46,P31513_G148X,G,X,148,GX,G148X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.000499772,0,0.0170433,0.968579
547,P31513,V,M,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,0.058,0.037,0.069,0.09,0.2,0.09,0.03,0.06,20020,61,ENSG00000007933,ENST00000367755,CCDS1292.1,FMO3,0.48,benign,0.011,tolerated,0.07,1.22171,9.957,P31513_V257M,V,M,257,VM,V257M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-2.217,-2.394,0.177,,,,,,15.193,15.193,93.8,0.00238734,0,0.0814134,1.01703
548,P31513,E,G,308,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,0.139,0.043,0.188,0.13,0.19,0.08,0.02,0.18,23196,3356,ENSG00000007933,ENST00000367755,CCDS1292.1,FMO3,0.58,possibly_damaging,0.756,tolerated,0.17,2.88792,15.62,P31513_E308G,E,G,308,EG,E308G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.42,-1.793,0.373,,,,,,23.959,23.959,46.99,0.00232537,0,0.0792999,0.968933
550,P31513,L,P,360,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,0.001,0.004,0,0.001,,,0.01,,23352,3200,ENSG00000007933,ENST00000367755,CCDS1292.1,FMO3,0.68,benign,0.01,tolerated,0.17,0.241199,5.303,P31513_L360P,L,P,360,LP,L360P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-2.27,-2.84,0.57,,,,,,40.639,40.639,83.83,0.0030343,0,0.103476,0.996885
568,P48023,R,G,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,0,0,0,,,,,,6618,1239,ENSG00000117560,ENST00000367721,CCDS1304.1,FASLG,0.56,benign,0.135,deleterious,0.04,1.68316,11.59,P48023_R156G,R,G,156,RG,R156G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.571,-3.267,1.696,,,,,,2.781,,63.7,0.00593308,0,0.20233,0.876393
605,Q9NP85,D,G,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,16200,9195,ENSG00000116218,ENST00000367616,,NPHS2,0.51,,,deleterious,0,3.5039,17.91,Q9NP85_D160G,D,G,160,DG,D160G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.057,-2.91,1.853,,,,,,,,,0.001055,0,0.0359778,0.827276
713,O75445,C,R,536,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,101476,147975,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.35,probably_damaging,1,deleterious,0,3.04161,16.15,O75445_C536R,C,R,536,CR,C536R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.073,-4.033,2.96,,,,,,,,,,,,0.743173
720,Q14739,P,L,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,341,2362,ENSG00000143815,ENST00000338179,CCDS1545.1,LBR,0.19,benign,0.245,deleterious,0,3.75035,19.04,Q14739_P119L,P,L,119,PL,P119L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.236,-3.354,2.118,,,,,,2.29,,53.98,0.000782477,0,0.0266841,0.881065
805,Q96P20,F,S,575,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,6372,626,ENSG00000162711,ENST00000366496,CCDS44346.1,NLRP3,0.59,benign,0.13,deleterious,0,2.74998,15.16,Q96P20_F575S,F,S,575,FS,F575S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.648,-3.539,1.891,,,,,,0.652,,26.54,0.000854417,0,0.0291374,0.889905
813,O14832,R,Q,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,15856,4,ENSG00000107537,ENST00000396913,CCDS41489.1,PHYH,0.74,probably_damaging,0.999,deleterious,0,5.0398,29.8,O14832_R175Q,R,Q,175,RQ,R175Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00329363,0,0.11232,0.968556
814,O14832,R,W,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,0,0,0,,,,,,15855,5,ENSG00000107537,ENST00000396913,CCDS41489.1,PHYH,0.74,probably_damaging,1,deleterious,0,3.18711,16.67,O14832_R175W,R,W,175,RW,R175W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00329363,0,0.11232,0.960989
872,Q96QU1,R,G,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,431995,374615,ENSG00000150275,ENST00000437009,,PCDH15,0.07,probably_damaging,0.974,tolerated,0.36,2.85972,15.53,Q96QU1_R134G,R,G,134,RG,R134G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.969,-3.662,1.693,,,,,,1.513,,26.8,,,,0.808959
930,Q9Y3D3,R,X,111,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.04,,,,,,,,,1470,191,ENSG00000182180,ENST00000372945,CCDS7323.1,MRPS16,0.81,,,,,5.06801,31,Q9Y3D3_R111X,R,X,111,RX,R111X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
933,P62847,Q,X,106,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,1878,47,ENSG00000138326,ENST00000360830,CCDS7356.1,RPS24,0.82,,,,,4.32621,22.7,P62847_Q106X,Q,X,106,QX,Q106X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
985,P60484,F,S,241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,5741,3370,ENSG00000171862,ENST00000371953,CCDS31238.1,PTEN,0.6,benign,0.054,tolerated,0.17,3.30314,17.1,P60484_F241S,F,S,241,FS,F241S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.524,-3.292,1.768,,,,,,,,,0.00276984,0,0.0944573,0.848219
1013,Q9P212,S,L,1484,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,181452,55063,ENSG00000138193,ENST00000260766,CCDS41552.1,PLCE1,0.64,probably_damaging,1,deleterious,0,5.2655,33,Q9P212_S1484L,S,L,1484,SL,S1484L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.239,-3.135,1.896,0.016,E,B,0.82,-0.99,,,,,,,0.62373
1015,Q9P212,Q,X,1854,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,215488,21027,ENSG00000138193,ENST00000260766,CCDS41552.1,PLCE1,0.81,,,,,16.2471,50,Q9P212_Q1854X,Q,X,1854,QX,Q1854X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1016,P33261,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.44,0.01,0.002,0,0.003,0.001,0.002,0.01,,,25,13745,ENSG00000165841,ENST00000371321,CCDS7436.1,CYP2C19,0,probably_damaging,0.976,deleterious,0,2.08561,12.93,P33261_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.759,-2.036,0.277,,,,,,16.593,16.593,61.63,0.00148068,0,0.0504944,1.00601
1079,P21802,S,C,265,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,1488,8,ENSG00000066468,ENST00000336553,,FGFR2,0.4,probably_damaging,0.973,deleterious,0,4.60564,25.1,P21802_S265C,S,C,265,SC,S265C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.000187738,0,0.00640225,0.989891
1082,P21802,A,A,255,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.44,0.07,,,,,,,,,1459,37,ENSG00000066468,ENST00000336553,,FGFR2,0.38,,,,,1.03549,9.23,P21802_A255A,A,A,255,AA,A255A,Hydrophobic,Hydrophobic,6,6,0,89,89,0,88.6,88.6,0,0,,,,,,,,,,,,0.00036362,0,0.0124002,1.00404
1084,P21802,T,P,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,1448,48,ENSG00000066468,ENST00000336553,,FGFR2,0.38,possibly_damaging,0.897,deleterious,0,4.81768,27.3,P21802_T252P,T,P,252,TP,T252P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.000666035,0,0.0227131,0.995239
1086,P21802,Y,C,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.09,,,,,,,,,1410,86,ENSG00000066468,ENST00000336553,,FGFR2,0.36,possibly_damaging,0.507,deleterious,0.03,3.99875,20.5,P21802_Y239C,Y,C,239,YC,Y239C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.000607436,0,0.0207148,0.957538
1096,P45954,L,F,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,8659,4121,ENSG00000196177,ENST00000358776,CCDS7634.1,ACADSB,0.59,possibly_damaging,0.828,deleterious,0,3.03108,16.11,P45954_L255F,L,F,255,LF,L255F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.469,-3.505,2.036,0.022,.,l,0.03,-0.19,3.883,,86.57,0.00407662,0,0.139021,0.819539
1101,P04181,R,X,258,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.09,,,,,,,,,5261,55,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.86,,,,,7.74846,39,P04181_R258X,R,X,258,RX,R258X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0028766,0,0.098098,0.951177
1102,P04181,C,R,256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.09,,,,,,,,,5255,61,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.85,benign,0.134,tolerated,0.08,3.31524,17.15,P04181_C256R,C,R,256,CR,C256R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.0040986,0,0.139771,0.940732
1114,P04181,Y,X,71,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.05,,,,,,,,,473,1612,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.24,,,,,5.95407,36,P04181_Y71X,Y,X,71,YX,Y71X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00229418,0,0.0782364,0.953982
1116,P04181,R,T,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,385,1700,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.14,probably_damaging,0.974,deleterious,0,4.57978,24.9,P04181_R42T,R,T,42,RT,R42T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,,,,,,,,,,,,0.00433388,0.00251889,0.147794,0.948452
1132,P10746,T,A,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1159,7944,ENSG00000188690,ENST00000368797,CCDS7648.1,UROS,0.23,probably_damaging,0.959,deleterious,0.01,4.3963,23.3,P10746_T62A,T,A,62,TA,T62A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.149,-2.63,1.481,0.209,.,A,0.22,-0.44,,,,0.00378089,0.00492611,0.128936,0.786406
1321,P23560,T,I,2,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,0.003,0,0.004,0.001,,,,0.004,380,227,ENSG00000176697,ENST00000439476,CCDS7866.1,BDNF,0.01,possibly_damaging,0.544,,,2.08736,12.94,P23560_T2I,T,I,2,TI,T2I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.32,-3.51,2.19,,,,,,0.835,,34.65,0.00199915,0.00816326,0.0681751,0.844106
1334,P26367,R,C,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,186,69,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.3,probably_damaging,0.985,deleterious,0,4.45043,23.7,P26367_R128C,R,C,128,RC,R128C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.582,-4.769,3.187,0.641,H,A,1.66,-0.82,,,,0.00128048,0,0.0436671,0.614499
1335,P26367,V,D,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,191,74,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.3,probably_damaging,0.964,deleterious,0,4.18346,21.7,P26367_V126D,V,D,126,VD,V126D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.465,-3.6,2.135,0.05,H,A,1.19,-1.14,,,,0.00192619,0.00337838,0.0656872,0.585557
1341,P19544,D,N,464,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,25584,2972,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.9,probably_damaging,0.976,deleterious,0,5.73551,36,P19544_D464N,D,N,464,DN,D464N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
1348,P19544,R,H,434,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,24894,3662,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.84,probably_damaging,0.999,deleterious,0,5.63342,36,P19544_R434H,R,H,434,RH,R434H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.0121307,0,0.413682,0.946014
1349,P19544,R,C,434,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,24893,3663,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.84,probably_damaging,1,deleterious,0,4.82584,27.4,P19544_R434C,R,C,434,RC,R434C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.0121307,0,0.413682,0.882698
1366,P15918,Y,C,912,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,8014,465,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.87,probably_damaging,0.984,deleterious,0,3.21498,16.77,P15918_Y912C,Y,C,912,YC,Y912C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-0.99,-4.737,3.747,,,,,,,,,2.85e-05,0,0.00097073,0.781559
1367,P15918,Y,X,938,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,8093,544,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.9,,,,,5.69197,36,P15918_Y938X,Y,X,938,YX,Y938X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,2.1e-05,0,0.000715404,0.977829
1373,P55895,R,Q,229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,1273,235,ENSG00000175097,ENST00000311485,CCDS7903.1,RAG2,0.43,probably_damaging,0.994,deleterious,0,4.65667,25.6,P55895_R229Q,R,Q,229,RQ,R229Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.00013656,0,0.00465697,0.85846
1375,P55895,T,N,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,563,19,ENSG00000175097,ENST00000311485,CCDS7903.1,RAG2,0.15,possibly_damaging,0.631,deleterious,0,1.63723,11.43,P55895_T77N,T,N,77,TN,T77N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,-1.842,-3.825,1.983,,,,,,1.328,,90.7,0.0021851,0,0.0745163,0.902334
1643,Q9BVK2,G,D,275,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,28,20,ENSG00000159063,ENST00000376156,CCDS41692.1,ALG8,0.59,probably_damaging,0.995,deleterious,0,5.18358,32,Q9BVK2_G275D,G,D,275,GD,G275D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.000772726,0,0.0263515,0.808386
1645,Q9ULV1,Q,X,505,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,4149,165,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.94,,,,,7.26161,38,Q9ULV1_Q505X,Q,X,505,QX,Q505X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00289758,0,0.0988135,0.955443
1660,Q9ULV1,M,T,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,2950,347,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.2,probably_damaging,0.99,deleterious,0,4.15497,21.5,Q9ULV1_M105T,M,T,105,MT,M105T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.787,-3.152,1.365,,,,,,2.315,,46.37,0.000985947,0,0.0336228,0.950202
1668,P53634,G,S,301,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,5259,709,ENSG00000109861,ENST00000227266,CCDS8282.1,CTSC,0.65,probably_damaging,0.984,deleterious,0,5.60323,36,P53634_G301S,G,S,301,GS,G301S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.763,-3.016,2.253,0.138,.,b,0.02,-0.86,,,,0.000816902,0,0.027858,0.606594
1669,P53634,Q,R,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,3591,6,ENSG00000109861,ENST00000527018,,CTSC,0.99,probably_damaging,0.999,deleterious,0,5.04494,29.9,P53634_Q243R,Q,R,243,QR,Q243R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,0.00407968,0,0.139126,0.969215
1694,P14679,R,Q,422,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,1086,10456,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.8,probably_damaging,0.983,deleterious,0.01,4.09548,21.1,P14679_R422Q,R,Q,422,RQ,R422Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.499,-2.923,1.424,,,,,,7.522,7.522,80.53,0.00182444,0,0.0622171,0.964381
1712,P45452,M,T,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,364,11012,ENSG00000137745,ENST00000260302,CCDS8324.1,MMP13,0.19,probably_damaging,0.996,deleterious,0,4.03364,20.7,P45452_M91T,M,T,91,MT,M91T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.296,-3.277,1.981,,,,,,,,,0.00144353,0,0.0492273,0.76774
1732,P24752,A,P,333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,4014,93,ENSG00000075239,ENST00000265838,CCDS8339.1,ACAT1,0.78,benign,0.253,deleterious,0,3.25931,16.93,P24752_A333P,A,P,333,AP,A333P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.935,-3.733,1.798,,H,A,0.52,-0.42,1.572,,92.04,0.00602032,0,0.205305,0.776367
1740,Q13315,R,X,3047,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,11720,254,ENSG00000149311,ENST00000452508,CCDS31669.1,ATM,1,,,,,16.4916,50,Q13315_R3047X,R,X,3047,RX,R3047X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1868,P48048,Y,X,60,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,2471,1,ENSG00000151704,ENST00000324036,CCDS8477.1,KCNJ1,0.16,,,,,6.4288,37,P48048_Y60X,Y,X,60,YX,Y60X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0028232,0,0.0962768,0.945391
1969,P54840,R,X,246,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.08,,,,,,,,,35896,32763,ENSG00000111713,ENST00000261195,CCDS8690.1,GYS2,0.35,,,,,7.66808,39,P54840_R246X,R,X,246,RX,R246X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000763886,0,0.0260501,0.977351
2155,Q12840,Y,C,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,19219,15386,ENSG00000155980,ENST00000455537,CCDS8945.1,KIF5A,0.27,probably_damaging,0.988,deleterious,0,3.89663,19.81,Q12840_Y276C,Y,C,276,YC,Y276C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.741,-4.825,3.084,0.044,.,B,0.25,-0.63,0.623,,71.03,0.000538568,0,0.0183663,0.607312
2156,Q12840,R,C,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,19230,15375,ENSG00000155980,ENST00000455537,CCDS8945.1,KIF5A,0.27,probably_damaging,1,deleterious,0,3.99214,20.4,Q12840_R280C,R,C,280,RC,R280C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.12,G,A,1.66,-0.08,,,,0.00030355,0,0.0103517,0.572089
2187,P42357,R,L,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,16,2267,ENSG00000084110,ENST00000261208,CCDS9058.1,HAL,0.32,possibly_damaging,0.883,deleterious,0.01,5.2481,33,P42357_R208L,R,L,208,RL,R208L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.582,-3.04,1.458,,,,,,,,,0.00103582,0,0.0353235,0.838398
2188,P42357,R,T,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10,2273,ENSG00000084110,ENST00000261208,CCDS9058.1,HAL,0.31,possibly_damaging,0.815,tolerated,0.43,3.35391,17.3,P42357_R206T,R,T,206,RT,R206T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.582,-3.103,1.521,,,,,,,,,0.00250972,0,0.0855868,0.892402
2194,Q3T906,D,G,407,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,60734,2175,ENSG00000111670,ENST00000549940,,GNPTAB,0.83,probably_damaging,1,deleterious,0,4.83394,27.5,Q3T906_D407G,D,G,407,DG,D407G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.138,-2.944,1.806,,,,,,4.681,,73.09,9.15e-05,0,0.00312,0.953072
2195,Q3T906,Q,X,104,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,104,36,ENSG00000111670,ENST00000549940,,GNPTAB,0.21,,,,,6.5414,37,Q3T906_Q104X,Q,X,104,QX,Q104X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000178314,0,0.00608088,0.98231
2207,P00439,S,P,349,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,7905,642,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.77,probably_damaging,0.999,deleterious,0,4.97532,29.1,P00439_S349P,S,P,349,SP,S349P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.348,-3.39,2.042,0.08,T,a,0.25,-0.37,,,,0.000948581,0,0.0323486,0.620156
2209,P00439,W,X,326,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0,,,,,,,,,7837,710,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.72,,,,,9.57906,42,P00439_W326X,W,X,326,WX,W326X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00197417,0,0.0673232,0.940107
2213,P00439,F,C,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,0,0,0,,,,,,558,7989,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.66,probably_damaging,1,deleterious,0.02,4.21649,21.9,P00439_F299C,F,C,299,FC,F299C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.351,-4.598,3.247,0.018,H,A,0.12,-0.92,,,,0.000185863,0,0.00633832,0.622399
2227,P00439,E,G,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,62040,100,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.49,benign,0.391,deleterious,0,4.20486,21.8,P00439_E221G,E,G,221,EG,E221G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.504,-3.163,1.659,0.481,T,A,0.75,0.19,2.403,,60.18,0.00270887,0,0.0923782,0.812501
2235,P00439,I,T,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,0,0,0.001,0.001,,,,0.001,17988,90,ENSG00000171759,ENST00000551337,,PAH,0.48,probably_damaging,0.999,deleterious,0,4.743,26.5,P00439_I65T,I,T,65,IT,I65T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.436,-3.157,1.721,0.105,E,B,0.7,-0.31,,,,0.00154403,0,0.0526547,0.707386
2270,Q06124,Y,C,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,31454,36556,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.11,probably_damaging,0.999,deleterious,0,4.61019,25.2,Q06124_Y63C,Y,C,63,YC,Y63C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.437,-4.544,3.107,0.094,E,B,0.25,0.41,,,,0.000930982,0,0.0317484,0.639213
2273,Q06124,T,I,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,31484,36526,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.12,probably_damaging,0.986,deleterious,0,5.19961,33,Q06124_T73I,T,I,73,TI,T73I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.391,-3.242,1.851,0.237,S,B,0.7,0.46,,,,0.000947439,0,0.0323096,0.873578
2286,Q99593,R,W,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,18377,19425,ENSG00000089225,ENST00000405440,CCDS9173.1,TBX5,0.46,probably_damaging,1,deleterious,0,4.26451,22.2,Q99593_R237W,R,W,237,RW,R237W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.402,.,B,1.67,0.83,,,,0.000524489,0,0.0178862,0.774925
2294,Q71F56,R,H,1872,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,0,0,0,,,,,,393,3209,ENSG00000123066,ENST00000281928,CCDS9177.1,MED13L,0.85,probably_damaging,0.993,deleterious,0,5.51776,35,Q71F56_R1872H,R,H,1872,RH,R1872H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,,,,0.778646
2389,Q9Y619,T,I,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,20079,536,ENSG00000102743,ENST00000338625,CCDS9373.1,SLC25A15,0.9,probably_damaging,0.99,deleterious,0,4.76441,26.7,Q9Y619_T272I,T,I,272,TI,T272I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.149,-3.337,2.188,,,,,,,,,0.00717751,0,0.244768,0.769834
2390,Q9Y619,R,Q,275,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,20088,527,ENSG00000102743,ENST00000338625,CCDS9373.1,SLC25A15,0.91,probably_damaging,1,deleterious,0,5.47873,35,Q9Y619_R275Q,R,Q,275,RQ,R275Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.00516434,0,0.176114,0.853541
2423,Q5TBB1,V,G,185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,15356,45,ENSG00000136104,ENST00000336617,CCDS9425.1,RNASEH2B,0.59,probably_damaging,0.999,deleterious,0,2.47326,14.23,Q5TBB1_V185G,V,G,185,VG,V185G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.355,-3.423,2.068,0.125,.,A,0.73,1.11,1.911,,75.64,0.00400094,0,0.13644,0.735254
2468,P49917,G,E,469,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,4920,1646,ENSG00000174405,ENST00000405925,CCDS9508.1,LIG4,0.51,probably_damaging,0.988,deleterious,0,2.74852,15.15,P49917_G469E,G,E,469,GE,G469E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.985,-3.475,2.49,,,,,,2.541,,63.12,0.000956549,0,0.0326203,0.840035
2605,Q9H9P8,G,D,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,9154,977,ENSG00000087299,ENST00000261699,,L2HGDH,0.12,probably_damaging,1,deleterious,0,4.89938,28.2,Q9H9P8_G55D,G,D,55,GD,G55D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.00123619,0.00490196,0.0421566,0.723509
2627,P30793,K,R,224,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,0,0,0,0.001,,,,0.001,58348,1103,ENSG00000131979,ENST00000491895,CCDS9720.1,GCH1,0.9,benign,0.009,tolerated,0.43,2.05313,12.82,P30793_K224R,K,R,224,KR,K224R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.453,-2.185,0.732,0.244,E,B,1.14,0.24,31.514,31.514,91.6,0.00747383,0,0.254873,0.971675
2629,P30793,M,I,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,58310,1141,ENSG00000131979,ENST00000491895,CCDS9720.1,GCH1,0.84,probably_damaging,0.961,deleterious,0.01,5.0542,30,P30793_M211I,M,I,211,MI,M211I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.541,-2.887,1.346,0.293,H,A,0.07,-0.64,,,,0.00840465,0,0.286616,0.794632
2675,P49768,L,S,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,25015,24315,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.53,probably_damaging,0.999,deleterious,0,4.68089,25.9,P49768_L246S,L,S,246,LS,L246S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,,,,,,,,,,,,0.00297325,0,0.101394,0.9341
2737,P16473,C,Y,672,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,26342,2230,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.88,probably_damaging,0.999,deleterious,0,3.66512,18.63,P16473_C672Y,C,Y,672,CY,C672Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.106,-3.01,1.904,,,,,,8.309,8.309,61.26,0.00150851,0,0.0514434,0.904859
2787,P68032,A,S,297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1308,57,ENSG00000159251,ENST00000290378,CCDS10041.1,ACTC1,0.79,benign,0.016,,,2.86188,15.53,P68032_A297S,A,S,297,AS,A297S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.65,-2.671,1.021,0.369,H,A,0.27,0,6.492,,70.29,0.00245237,0,0.083631,0.939092
2835,P35555,E,K,2447,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,42509,15409,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.85,probably_damaging,0.996,deleterious,0,5.83117,36,P35555_E2447K,E,K,2447,EK,E2447K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,,,,0.860577
2903,P06865,M,R,312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,11291,2632,ENSG00000213614,ENST00000566304,,HEXA,0.58,benign,0.153,deleterious,0,3.51368,17.95,P06865_M312R,M,R,312,MR,M312R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,0.000884127,0,0.0301505,0.992385
2909,P06865,F,S,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,9281,41,ENSG00000213614,ENST00000566304,,HEXA,0.41,probably_damaging,0.993,deleterious,0,5.21457,33,P06865_F222S,F,S,222,FS,F222S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,0.00316043,0,0.107777,0.929586
2911,P06865,H,R,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,9260,62,ENSG00000213614,ENST00000566304,,HEXA,0.4,probably_damaging,1,deleterious,0,4.96372,28.9,P06865_H215R,H,R,215,HR,H215R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00211278,0,0.0720501,0.986365
3002,Q02078,P,L,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,0.001,0.001,0.001,0.001,,,,0.001,124313,22925,ENSG00000068305,ENST00000449277,,MEF2A,0.49,possibly_damaging,0.846,deleterious,0.01,5.36803,34,Q02078_P209L,P,L,209,PL,P209L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00210893,0,0.071919,0.966041
3072,O15305,V,M,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.08,,,,,,,,,3552,5,ENSG00000140650,ENST00000268261,CCDS10536.1,PMM2,0.52,probably_damaging,0.976,deleterious,0,4.20606,21.8,O15305_V129M,V,M,129,VM,V129M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.419,-3.87,2.451,0.017,.,b,0.11,-1.05,2.192,,59.35,0.00535665,0,0.182673,0.599493
3256,Q86YC2,W,X,906,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.04,,,,,,,,,11670,2195,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.76,,,,,5.9556,36,Q86YC2_W906X,W,X,906,WX,W906X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000639272,0,0.0218005,0.956807
3265,Q86YC2,Q,X,251,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,2141,241,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.21,,,,,3.75978,19.09,Q86YC2_Q251X,Q,X,251,QX,Q251X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000438499,0,0.0149537,0.98231
3288,P35637,H,Q,516,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1035,151,ENSG00000089280,ENST00000380244,,FUS,0.98,possibly_damaging,0.438,deleterious,0,3.15122,16.54,P35637_H516Q,H,Q,516,HQ,H516Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,,,,,,,,,,,,0.00343353,0,0.117091,0.978876
3289,P35637,R,K,517,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1037,149,ENSG00000089280,ENST00000380244,,FUS,0.98,benign,0.171,deleterious,0,3.66697,18.64,P35637_R517K,R,K,517,RK,R517K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,,,,,,,,,,,,0.00343353,0,0.117091,0.974645
3290,P35637,R,G,520,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1045,141,ENSG00000089280,ENST00000380244,,FUS,0.99,possibly_damaging,0.592,deleterious,0,2.97094,15.91,P35637_R520G,R,G,520,RG,R520G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00343353,0,0.117091,0.927822
3291,P35637,R,C,520,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1045,141,ENSG00000089280,ENST00000380244,,FUS,0.99,possibly_damaging,0.882,deleterious,0,3.5229,17.99,P35637_R520C,R,C,520,RC,R520C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00343353,0,0.117091,0.929023
3292,P35637,R,H,520,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1046,140,ENSG00000089280,ENST00000380244,,FUS,0.99,possibly_damaging,0.699,deleterious,0,3.85863,19.6,P35637_R520H,R,H,520,RH,R520H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00343353,0,0.117091,0.975921
3320,Q9C0B1,R,Q,316,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,169655,238251,ENSG00000140718,ENST00000471389,CCDS32448.1,FTO,0.63,probably_damaging,0.913,deleterious,0.01,4.84021,27.5,Q9C0B1_R316Q,R,Q,316,RQ,R316Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.00205462,0,0.0700667,0.874592
3327,Q9BXC9,G,V,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,65,1210,ENSG00000125124,ENST00000568104,,BBS2,0.21,probably_damaging,1,deleterious,0,5.13416,32,Q9BXC9_G139V,G,V,139,GV,G139V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,0.00034657,0,0.0118187,0.802014
3445,P43034,R,P,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,445,7765,ENSG00000007168,ENST00000574468,,PAFAH1B1,0.35,possibly_damaging,0.702,tolerated,0.2,4.21754,21.9,P43034_R73P,R,P,73,RP,R73P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00127206,0,0.0433798,0.886701
3450,P45381,E,G,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,206,166,ENSG00000108381,ENST00000456349,CCDS11028.1,ASPA,0.08,probably_damaging,1,deleterious,0,4.8479,27.6,P45381_E24G,E,G,24,EG,E24G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.075,-3.175,2.1,0.048,.,B,0.75,-0.41,,,,0.000790421,0,0.026955,0.585782
3456,P45381,E,A,285,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.11,0,0,0,,,,,,14769,89,ENSG00000108381,ENST00000263080,CCDS11028.1,ASPA,0.91,probably_damaging,1,deleterious,0,3.27207,16.98,P45381_E285A,E,A,285,EA,E285A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-1.336,-2.848,1.512,0.032,.,B,1.04,-0.17,6.791,,86.58,0.0299458,0,1.02121,0.804937
3543,P11055,V,D,825,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,15947,11677,ENSG00000109063,ENST00000583535,CCDS11157.1,MYH3,0.43,probably_damaging,0.989,deleterious,0,4.05175,20.8,P11055_V825D,V,D,825,VD,V825D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.304,-3.654,2.35,0.05,H,A,1.19,0,,,,2.98e-05,0,0.00101565,0.637428
3604,P21359,L,M,2164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,334,557,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.76,probably_damaging,0.982,deleterious,0.02,3.55851,18.14,P21359_L2164M,L,M,2164,LM,L2164M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,-1.347,-3.487,2.14,,,,,,,,,,,,0.827981
3609,O00623,R,S,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,1111,2650,ENSG00000108733,ENST00000225873,CCDS11296.1,PEX12,0.25,probably_damaging,0.999,deleterious,0,4.12371,21.3,O00623_R91S,R,S,91,RS,R91S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-0.659,-3.628,2.969,,,,,,0.246,,10.03,0.000597441,0,0.020374,0.764213
3671,P51692,A,P,630,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,404,229,ENSG00000173757,ENST00000293328,CCDS11423.1,STAT5B,0.8,probably_damaging,0.999,deleterious,0,5.31735,34,P51692_A630P,A,P,630,AP,A630P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.175,-3.39,2.215,0.019,E,B,0.52,0.18,,,,0.000472575,0,0.0161158,0.70516
3956,Q15067,R,X,110,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,21519,10978,ENSG00000161533,ENST00000537812,CCDS54168.1,ACOX1,0.18,,,,,10.2019,43,Q15067_R110X,R,X,110,RX,R110X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4068,P02766,T,A,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,3247,726,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.47,probably_damaging,0.987,deleterious,0,3.78994,19.24,P02766_T69A,T,A,69,TA,T69A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-0.852,-2.663,1.811,0.014,.,B,0.22,-0.66,6.897,6.897,57.14,0.00387634,0,0.132191,0.788996
4073,P02766,L,H,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,3275,698,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.53,probably_damaging,1,deleterious,0,3.58776,18.27,P02766_L78H,L,H,78,LH,L78H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.442,-3.943,2.501,0.007,S,A,0.72,-0.28,9.393,9.393,50.34,0.0096071,0,0.327622,0.599684
4074,P02766,L,R,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,3275,698,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.53,probably_damaging,1,deleterious,0,3.52957,18.02,P02766_L78R,L,R,78,LR,L78R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.442,-4.302,2.86,0.007,S,A,1.75,-0.28,2.844,,50.34,0.0096071,0,0.327622,0.473642
4075,P02766,T,A,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,3280,693,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.54,benign,0.112,tolerated,0.08,2.30019,13.65,P02766_T80A,T,A,80,TA,T80A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-2.133,-2.264,0.131,0.158,.,B,0.22,-0.16,12.808,12.808,72.11,0.0123414,0,0.420868,0.962432
4076,P02766,E,K,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,3283,690,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.55,benign,0.013,tolerated,0.33,0.530841,6.875,P02766_E81K,E,K,81,EK,E81K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-2.324,-2.598,0.274,0.594,T,A,1.3,0.96,18.849,18.849,85.71,0.0114828,0,0.391589,0.986353
4077,P02766,F,L,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,3292,681,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.57,probably_damaging,0.933,tolerated,0.09,2.90739,15.69,P02766_F84L,F,L,84,FL,F84L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-2.108,-2.16,0.052,0.112,.,b,0.03,0.02,29.888,29.888,79.59,0.012089,0,0.41226,0.964234
4078,P02766,F,S,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,3293,680,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.57,probably_damaging,0.949,deleterious,0.01,3.1271,16.45,P02766_F84S,F,S,84,FS,F84S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-2.108,-3.369,1.261,0.112,.,b,0.85,0.02,14.063,14.063,79.59,0.012089,0,0.41226,0.763618
4085,P02766,H,N,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,0.001,0,0.001,,,,,,3370,603,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.75,benign,0.318,deleterious,0.02,1.73288,11.75,P02766_H110N,H,N,110,HN,H110N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,-2.747,-3.519,0.772,0.212,.,B,0.44,-0.54,8.403,8.403,90.48,0.00990211,0,0.337682,0.928698
4105,Q9ULV0,V,G,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,158100,214196,ENSG00000167306,ENST00000285039,CCDS42436.1,MYO5B,0.06,probably_damaging,0.998,deleterious,0,4.49946,24.2,Q9ULV0_V108G,V,G,108,VG,V108G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.201,-3.36,2.159,,,,,,,,,,,,0.748535
4118,O43520,T,M,456,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,43447,41932,ENSG00000081923,ENST00000283684,CCDS11965.1,ATP8B1,0.36,probably_damaging,1,deleterious,0,4.80104,27.1,O43520_T456M,T,M,456,TM,T456M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.149,-4.257,3.108,,,,,,,,,0.000119245,0,0.00406651,0.820812
4143,P32245,S,C,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,591,847,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.17,probably_damaging,0.994,deleterious,0,4.08048,21,P32245_S58C,S,C,58,SC,S58C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.239,-4.414,3.175,,,,,,,,,0.00125804,0,0.0429016,0.727288
4545,P04114,R,C,3558,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,0.001,0.001,0.001,0.001,,0.003,,,37878,4767,ENSG00000084674,ENST00000233242,CCDS1703.1,APOB,0.78,probably_damaging,0.991,deleterious,0,4.30448,22.5,P04114_R3558C,R,C,3558,RC,R3558C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.201,-5.064,3.863,,,,,,0.6,,68.44,,,,0.770014
4640,Q9H222,R,H,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,14680,11228,ENSG00000138075,ENST00000405322,,ABCG5,0.45,probably_damaging,0.999,deleterious,0.01,4.84725,27.6,Q9H222_R218H,R,H,218,RH,R218H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
4657,Q07837,T,R,652,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,2767,263,ENSG00000138079,ENST00000260649,CCDS1819.1,SLC3A1,0.95,benign,0.068,deleterious,0.04,3.01027,16.04,Q07837_T652R,T,R,652,TR,T652R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.486,-3.673,2.187,,,,,,3.046,,84.09,0.0084861,0.030303,0.289393,0.823361
4691,P22888,L,P,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,18495,623,ENSG00000138039,ENST00000405626,,LHCGR,0.71,probably_damaging,1,deleterious,0,2.25899,13.51,P22888_L475P,L,P,475,LP,L475P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00184279,0,0.062843,0.964361
4693,P22888,M,T,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,18807,935,ENSG00000138039,ENST00000405626,,LHCGR,0.55,probably_damaging,0.95,deleterious,0,3.50885,17.93,P22888_M371T,M,T,371,MT,M371T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.00177129,0,0.0604046,0.953513
4734,Q16854,D,Y,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,23161,45,ENSG00000114956,ENST00000264093,CCDS1931.1,DGUOK,0.92,probably_damaging,0.968,deleterious,0,4.42381,23.5,Q16854_D255Y,D,Y,255,DY,D255Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.159,-4.198,3.039,0.341,.,b,0.96,0.59,0.746,,42.6,0.0100397,0,0.342375,0.626236
4791,P18510,Q,X,36,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0,,,,,,,,,2043,364,ENSG00000136689,ENST00000354115,CCDS2113.1,IL1RN,0.23,,,,,5.29163,34,P18510_Q36X,Q,X,36,QX,Q36X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
4906,P02708,F,L,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,14291,2312,ENSG00000138435,ENST00000409542,,CHRNA1,0.52,,,deleterious,0,4.25275,22.2,P02708_F194L,F,L,194,FL,F194L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.000856834,0,0.0292198,0.984679
4907,P02708,T,I,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,14286,2317,ENSG00000138435,ENST00000409542,,CHRNA1,0.51,,,deleterious,0.02,3.68397,18.72,P02708_T192I,T,I,192,TI,T192I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00114465,0,0.0390349,0.921072
4933,P02461,G,S,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,13726,24648,ENSG00000168542,ENST00000317840,,COL3A1,0.16,,,deleterious,0,4.62046,25.3,P02461_G183S,G,S,183,GS,G183S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,,,,,,,,,2.58e-05,0,0.000880755,0.841085
4936,P02461,G,E,552,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,21798,16576,ENSG00000168542,ENST00000317840,,COL3A1,0.47,,,deleterious,0,3.59195,18.29,P02461_G552E,G,E,552,GE,G552E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.082,-3.435,2.353,,,,,0,2.272,,56.41,2.17e-05,0,0.000738948,0.660765
4970,Q14790,R,W,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,4270,4,ENSG00000064012,ENST00000450491,,CASP8,0.87,probably_damaging,0.983,deleterious,0,3.53333,18.03,Q14790_R130W,R,W,130,RW,R130W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00174914,0,0.0596494,0.948836
4972,Q96Q42,R,X,998,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.04,,,,,,,,,302,18,ENSG00000003393,ENST00000264276,CCDS42800.1,ALS2,0.6,,,,,10.6465,44,Q96Q42_R998X,R,X,998,RX,R998X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5005,P31327,H,R,343,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,35355,87215,ENSG00000021826,ENST00000430249,CCDS46505.1,CPS1,0.23,probably_damaging,0.999,deleterious,0,4.45928,23.8,P31327_H343R,H,R,343,HR,H343R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,,,,0.960944
5007,P31327,R,X,793,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.05,,,,,,,,,15161,70581,ENSG00000021826,ENST00000430249,CCDS46505.1,CPS1,0.53,,,,,8.23312,40,P31327_R793X,R,X,793,RX,R793X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5024,Q9NZC9,E,X,848,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,20546,815,ENSG00000138375,ENST00000357276,CCDS2403.1,SMARCAL1,0.89,,,,,10.2158,43,Q9NZC9_E848X,E,X,848,EX,E848X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00246025,0,0.0838996,0.961863
5121,P19224,Q,X,330,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,6872,1,ENSG00000167165,ENST00000305139,CCDS2507.1,UGT1A6,0.62,,,,,5.73135,36,P19224_Q330X,Q,X,330,QX,Q330X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000446942,0,0.0152416,0.98231
5122,P19224,Q,R,330,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,6873,2,ENSG00000167165,ENST00000305139,CCDS2507.1,UGT1A6,0.62,probably_damaging,1,deleterious,0,4.92665,28.5,P19224_Q330R,Q,R,330,QR,Q330R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.119,-3.133,2.014,0.039,S,B,0.56,-0.69,,,,0.000446942,0,0.0152416,0.643602
5271,Q9BZ23,M,T,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,3842,4519,ENSG00000125779,ENST00000497424,CCDS13072.1,PANK2,0.52,possibly_damaging,0.884,deleterious,0,2.38634,13.94,Q9BZ23_M146T,M,T,146,MT,M146T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.000550626,0,0.0187775,0.993271
5299,Q5TEU4,L,P,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,84,1770,ENSG00000101247,ENST00000463598,CCDS33441.1,NDUFAF5,0.63,probably_damaging,0.997,deleterious,0,4.31639,22.6,Q5TEU4_L201P,L,P,201,LP,L201P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,,,,,,,,,0.00534842,0,0.182392,0.752414
5304,Q15437,R,X,324,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,18446,24,ENSG00000101310,ENST00000377475,CCDS13137.1,SEC23B,0.42,,,,,7.43236,39,Q15437_R324X,R,X,324,RX,R324X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00132735,0,0.0452655,0.900587
5324,Q9H444,D,V,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,39665,3398,ENSG00000101421,ENST00000217402,CCDS13228.1,CHMP4B,0.58,probably_damaging,0.991,deleterious,0,4.56725,24.8,Q9H444_D129V,D,V,129,DV,D129V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.264,-3.435,2.171,,,,,,,,,0.00478887,0,0.16331,0.772426
5480,P00441,L,V,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,7562,71,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.55,possibly_damaging,0.495,deleterious,0.01,2.05924,12.84,P00441_L85V,L,V,85,LV,L85V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.039,-2.671,1.632,0.022,E,A,0.11,-1.23,,,,0.00327512,0,0.111688,0.72815
5481,P00441,G,R,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,7565,68,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.56,probably_damaging,1,deleterious,0,2.8797,15.59,P00441_G86R,G,R,86,GR,G86R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.15,-3.886,2.736,0.011,E,p,0.91,-1.21,2.132,,72.08,0.0011774,0,0.0401519,0.506502
5487,P00441,E,G,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7611,22,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.66,benign,0.315,tolerated,0.11,1.90182,12.32,P00441_E101G,E,G,101,EG,E101G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.729,-3.377,1.648,0.62,E,B,0.75,0.76,3.516,,83.12,0.00781037,0,0.26635,0.908693
5489,P00441,L,V,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7628,5,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.69,probably_damaging,0.98,deleterious,0.01,4.44723,23.7,P00441_L107V,L,V,107,LV,L107V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.039,-2.671,1.632,0.022,S,A,0.11,0.2,,,,0.00376562,0,0.128415,0.853672
5492,P00441,L,S,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,8838,385,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.94,probably_damaging,0.981,tolerated,0.05,3.51831,17.97,P00441_L145S,L,S,145,LS,L145S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.039,-3.428,2.389,0.314,E,A,0.82,-0.58,,,,0.015855,0,0.540688,0.632298
5493,P00441,A,T,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,8840,383,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.95,probably_damaging,1,deleterious,0.01,4.94388,28.7,P00441_A146T,A,T,146,AT,A146T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.013,-3.014,2.001,,E,B,0.22,-0.96,,,,0.0113856,0,0.388272,0.641522
5496,Q9Y6J6,R,C,27,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,4792,246,ENSG00000159197,ENST00000290310,CCDS13635.1,KCNE2,0.22,possibly_damaging,0.863,deleterious,0,3.06575,16.23,Q9Y6J6_R27C,R,C,27,RC,R27C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.0110022,0,0.375198,0.706016
5787,Q9BXW9,Q,X,320,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.04,,,,,,,,,16620,56542,ENSG00000144554,ENST00000419585,CCDS33696.1,FANCD2,0.22,,,,,4.15721,21.5,Q9BXW9_Q320X,Q,X,320,QX,Q320X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
5807,P37231,P,Q,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,1643,44,ENSG00000132170,ENST00000287820,CCDS2609.1,PPARG,0.22,probably_damaging,0.999,deleterious,0,4.62805,25.3,P37231_P113Q,P,Q,113,PQ,P113Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.115,-3.635,2.52,,,,,,,,,0.00199622,0,0.0680754,0.80364
5814,P04049,T,I,370,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,161,1399,ENSG00000132155,ENST00000432427,,RAF1,0.7,probably_damaging,0.94,deleterious,0,4.7909,27,P04049_T370I,T,I,370,TI,T370I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00054285,0,0.0185123,0.990755
5815,P04049,T,R,370,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,161,1399,ENSG00000132155,ENST00000432427,,RAF1,0.7,probably_damaging,0.994,deleterious,0,4.78257,26.9,P04049_T370R,T,R,370,TR,T370R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,,,,,,,,,,,,0.00054285,0,0.0185123,0.978089
5874,P16278,R,C,452,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,13455,36,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.7,probably_damaging,1,deleterious,0,4.04546,20.8,P16278_R452C,R,C,452,RC,R452C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00290968,0,0.0992261,0.929023
5881,P16278,W,L,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,20737,72,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.38,probably_damaging,0.983,deleterious,0,5.23182,33,P16278_W243L,W,L,243,WL,W243L,Hydrophobic,Hydrophobic,5.89,9.71,3.82,204,131,-73,227.8,166.7,-61.1,61,,,,,,,,,,,,0.00217166,0.00230415,0.0740582,0.948981
5893,P40692,G,E,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,2475,4353,ENSG00000076242,ENST00000231790,CCDS2663.1,MLH1,0.09,probably_damaging,1,deleterious,0,5.30307,34,P40692_G67E,G,E,67,GE,G67E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,0.000173121,0,0.00590377,0.806888
6047,O75030,S,P,374,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,0,0,0,,,,,,28157,369,ENSG00000187098,ENST00000394355,,MITF,0.76,benign,0.008,tolerated,1,0.165251,4.889,O75030_S374P,S,P,374,SP,S374P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.00228534,0,0.0779347,0.974634
6048,Q9HC23,R,C,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,0,0,0,,,,,,3590,9371,ENSG00000163421,ENST00000295619,CCDS46868.1,PROK2,0.57,probably_damaging,0.999,deleterious,0,4.37446,23.1,Q9HC23_R73C,R,C,73,RC,R73C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.711,-4.992,3.281,,,,,,0.455,,51.94,0.00751583,0,0.256305,0.710874
6066,P28069,W,X,154,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,16381,185,ENSG00000064835,ENST00000560656,,POU1F1,0.91,,,,,4.40389,23.3,P28069_W154X,W,X,154,WX,W154X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00343056,0,0.116989,0.931205
6068,P28069,S,R,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,14325,2241,ENSG00000064835,ENST00000561167,,POU1F1,0.48,benign,0.077,deleterious,0,2.49645,14.31,P28069_S104R,S,R,104,SR,S104R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,0.00274135,0,0.0934856,0.947126
6094,P36551,G,R,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,4818,832,ENSG00000080819,ENST00000264193,CCDS2932.1,CPOX,0.61,probably_damaging,1,deleterious,0,5.08826,31,P36551_G279R,G,R,279,GR,G279R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,,,,0.752854
6095,P36551,S,F,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,2522,570,ENSG00000080819,ENST00000264193,CCDS2932.1,CPOX,0.46,probably_damaging,1,deleterious,0,4.79397,27,P36551_S208F,S,F,208,SF,S208F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.146,-3.884,2.738,,,,,,,,,,,,0.743605
6106,Q15051,Q,X,224,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.04,,,,,,,,,44902,20139,ENSG00000173226,ENST00000349820,CCDS33836.1,IQCB1,0.48,,,,,5.94544,36,Q15051_Q224X,Q,X,224,QX,Q224X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6111,P41180,R,C,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,2760,548,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.06,probably_damaging,0.976,deleterious,0.01,2.8794,15.59,P41180_R66C,R,C,66,RC,R66C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.749,-5.342,3.593,,,,,,0.777,,37.01,0.00120165,0.000988142,0.0409786,0.779352
6113,P41180,A,T,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,2910,398,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.11,possibly_damaging,0.88,tolerated,0.68,3.88639,19.75,P41180_A116T,A,T,116,AT,A116T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-2.178,-1.948,-0.23,,,,,,8.942,8.942,34.69,0.00150894,0.0010395,0.0514581,0.972948
6199,Q7Z494,Q,X,1114,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,40,3156,ENSG00000113971,ENST00000337331,CCDS3078.1,NPHP3,0.84,,,,,9.80611,42,Q7Z494_Q1114X,Q,X,1114,QX,Q1114X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000952764,0,0.0324912,0.912628
6225,P82650,R,H,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.09,0,0,0,,,,,,688,77,ENSG00000175110,ENST00000495075,CCDS3107.1,MRPS22,0.47,probably_damaging,1,deleterious,0,4.96106,28.9,P82650_R170H,R,H,170,RH,R170H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.45,-2.497,1.047,,,,,,19.373,19.373,56.11,,,,0.905152
6262,Q99574,S,P,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,53548,1330,ENSG00000163536,ENST00000446050,CCDS3203.1,SERPINI1,0.12,probably_damaging,0.985,deleterious,0,3.7846,19.22,Q99574_S49P,S,P,49,SP,S49P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.389,-3.604,2.215,,.,B,0.25,-0.22,0.906,,61.95,0.00102074,0,0.0348092,0.66441
6322,Q13144,A,T,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,701,344,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.1,benign,0.095,deleterious,0.02,3.70423,18.82,Q13144_A74T,A,T,74,AT,A74T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.365,-3.074,1.709,,,,,,4.443,,54.09,0.00113051,0,0.0385526,0.941586
6324,Q13144,T,A,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,0.001,,,,0.001,650,293,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.13,possibly_damaging,0.551,tolerated,0.31,3.98033,20.4,Q13144_T91A,T,A,91,TA,T91A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.149,-2.63,1.481,,,,,,,,,0.00195116,0,0.0665385,0.902304
6395,Q9Y5I7,F,C,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,20296,1593,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.76,probably_damaging,0.999,deleterious,0,4.0975,21.1,Q9Y5I7_F232C,F,C,232,FC,F232C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.149,-4.679,3.53,,,,,,,,,0.00575125,0,0.196129,0.710371
6399,Q9Y5I7,Y,X,277,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.05,,,,,,,,,21829,60,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.91,,,,,3.24287,16.87,Q9Y5I7_Y277X,Y,X,277,YX,Y277X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0225195,0.0714286,0.76796,0.925965
6400,Q9Y5I7,T,R,303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,21906,18,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.99,probably_damaging,0.924,deleterious,0,4.55917,24.7,Q9Y5I7_T303R,T,R,303,TR,T303R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.204,-3.578,2.374,,,,,,1.61,,40.66,0.05264,0,1.79513,0.780948
6498,Q16585,L,R,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,3857,955,ENSG00000163069,ENST00000381431,CCDS3488.1,SGCB,0.34,probably_damaging,0.968,deleterious,0,4.48373,24,Q16585_L108R,L,R,108,LR,L108R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.208,-3.668,2.46,,,,,,,,,0.0032259,0,0.11001,0.780553
6524,P30968,E,K,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,268,13588,ENSG00000109163,ENST00000420975,CCDS47064.1,GNRHR,0.36,probably_damaging,0.995,deleterious,0.03,4.52874,24.4,P30968_E90K,E,K,90,EK,E90K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.68,-3.245,1.565,,,,,,1.141,,42.99,0.0011158,0,0.038051,0.915305
6547,P58335,L,R,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,63045,30997,ENSG00000163297,ENST00000307333,CCDS47086.1,ANTXR2,0.67,probably_damaging,0.984,deleterious,0.03,3.45947,17.72,P58335_L329R,L,R,329,LR,L329R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.366,-3.813,2.447,,,,,,0.772,,39.26,0.00296305,0,0.101046,0.829909
6562,Q13563,Q,X,405,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,90,34,ENSG00000118762,ENST00000237596,CCDS3627.1,PKD2,0.42,,,,,4.10085,21.1,Q13563_Q405X,Q,X,405,QX,Q405X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000908428,0,0.0309793,0.98231
6625,P02675,G,D,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,7425,259,ENSG00000171564,ENST00000509493,,FGB,0.78,probably_damaging,1,deleterious,0,5.07804,31,P02675_G211D,G,D,211,GD,G211D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.0015416,0,0.0525716,0.902469
6633,O43897,V,A,238,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,0,0,0.001,,,,,,129731,27488,ENSG00000038295,ENST00000061240,CCDS3811.1,TLL1,0.23,benign,0.153,deleterious,0.05,2.39554,13.97,O43897_V238A,V,A,238,VA,V238A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.376,-2.733,1.357,,H,A,0.44,-0.73,4.129,,87.96,0.00037999,0,0.0129584,0.814352
6669,Q6ZWL3,K,T,386,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,49,1871,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.74,probably_damaging,0.999,deleterious,0,4.38352,23.2,Q6ZWL3_K386T,K,T,386,KT,K386T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.126,-3.322,2.196,,,,,,1.675,,48.57,0.00141281,0,0.0481797,0.862608
6727,Q9H6L5,S,X,168,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,330,2505,ENSG00000154153,ENST00000399793,CCDS43305.1,FAM134B,0.47,,,,,8.87411,41,Q9H6L5_S168X,S,X,168,SX,S168X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
6744,Q6KC79,Y,X,195,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,743,13649,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.07,,,,,7.97623,40,Q6KC79_Y195X,Y,X,195,YX,Y195X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
6766,P10643,G,R,379,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,0,0,0,,,,,,46176,27512,ENSG00000112936,ENST00000313164,CCDS47201.1,C7,0.45,probably_damaging,0.999,deleterious,0,4.66155,25.7,P10643_G379R,G,R,379,GR,G379R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,,,,,,,,0.000631233,0,0.0215263,0.788138
6777,P10912,R,X,61,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,123078,30858,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.1,,,,,6.36311,37,P10912_R61X,R,X,61,RX,R61X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00117534,0,0.0400817,0.908362
6778,P10912,E,K,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,0,0,0,,,,,,123081,30855,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.1,probably_damaging,0.989,deleterious,0,5.2747,33,P10912_E62K,E,K,62,EK,E62K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,0.241,S,a,1.3,-0.35,,,,0.00071078,0,0.0242391,0.798704
6786,P10912,Q,P,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,134043,19893,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.27,possibly_damaging,0.843,tolerated,0.07,3.68437,18.72,P10912_Q172P,Q,P,172,QP,Q172P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.568,-3.763,2.195,0.199,E,B,0.12,-0.63,1.096,,76.65,0.00100466,0,0.034261,0.727383
6787,P10912,V,G,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,134046,19890,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.27,probably_damaging,0.997,deleterious,0,4.75382,26.6,P10912_V173G,V,G,173,VG,V173G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.152,-3.527,2.375,,E,B,0.73,-1.23,0.84,,39.81,0.00064302,0,0.0219283,0.53619
6819,P07686,R,Q,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,160,189,ENSG00000049860,ENST00000511181,,HEXB,0.85,probably_damaging,1,deleterious,0,6.05839,37,P07686_R280Q,R,Q,280,RQ,R280Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00326284,0,0.11127,0.968556
6843,P29120,E,X,250,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,534,19525,ENSG00000175426,ENST00000311106,CCDS4081.1,PCSK1,0.33,,,,,8.65098,41,P29120_E250X,E,X,250,EX,E250X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000270749,0,0.0092331,0.980139
6855,P25054,S,X,713,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,8897,113,ENSG00000134982,ENST00000257430,CCDS4107.1,APC,0.25,,,,,6.14671,37,P25054_S713X,S,X,713,SX,S713X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
6960,P50443,Q,P,454,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,2974,6452,ENSG00000155850,ENST00000286298,CCDS4300.1,SLC26A2,0.61,probably_damaging,1,deleterious,0,3.71654,18.88,P50443_Q454P,Q,P,454,QP,Q454P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.16,-3.51,2.35,,,,,,,,,0.000212992,0,0.00726346,0.823657
7008,Q96L73,R,X,1217,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.05,,,,,,,,,26162,1593,ENSG00000165671,ENST00000361032,,NSD1,0.47,,,,,8.52709,40,Q96L73_R1217X,R,X,1217,RX,R1217X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7071,P15924,Q,X,664,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,30311,14645,ENSG00000096696,ENST00000379802,CCDS4501.1,DSP,0.23,,,,,10.0953,43,P15924_Q664X,Q,X,664,QX,Q664X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7108,Q30201,R,M,327,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,267,233,ENSG00000010704,ENST00000470149,,HFE,0.95,possibly_damaging,0.885,deleterious,0.04,2.88814,15.62,Q30201_R327M,R,M,327,RM,R327M,PositiveCharge,Hydrophobic,6.34,5.74,-0.6,174,149,-25,173.4,162.9,-10.5,91,,,,,,,,,,,,0.012335,0,0.420649,0.935305
7169,Q13950,S,N,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,9526,115199,ENSG00000124813,ENST00000359524,CCDS4913.1,RUNX2,0.35,probably_damaging,0.906,deleterious,0,4.69009,25.9,Q13950_S177N,S,N,177,SN,S177N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,0.00101207,0,0.0345136,0.928016
7204,P48506,H,L,370,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,78,82,ENSG00000001084,ENST00000229416,CCDS4952.1,GCLC,0.58,probably_damaging,0.999,deleterious,0,5.09533,31,P48506_H370L,H,L,370,HL,H370L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.433,-3.319,1.886,,,,,,,,,0.000905332,0,0.0308737,0.892265
7236,Q03692,L,P,614,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,883,1249,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.9,,,deleterious,0,2.40215,13.99,Q03692_L614P,L,P,614,LP,L614P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.972,-3.96,2.988,,E,B,1.07,-0.8,,,,0.00120017,0,0.0409284,0.518074
7255,P17302,G,S,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,11582,2454,ENSG00000152661,ENST00000282561,CCDS5123.1,GJA1,0.37,benign,0.156,deleterious,0.03,2.92034,15.73,P17302_G143S,G,S,143,GS,G143S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.164,-2.972,1.808,,,,,,4.27,,81.68,0.00216965,0,0.0739895,0.965067
7296,Q6EEV6,V,M,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,0.562,0.711,0.485,0.63,0.73,0.56,0.79,0.48,195,488,ENSG00000177688,ENST00000326669,CCDS34549.1,SUMO4,0.58,benign,0.006,tolerated,1,-2.84524,0,Q6EEV6_V55M,V,M,55,VM,V55M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.0133975,0,0.456882,0.962831
7300,P03372,R,X,157,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,33506,256366,ENSG00000091831,ENST00000440973,CCDS5234.1,ESR1,0.26,,,,,9.13648,41,P03372_R157X,R,X,157,RX,R157X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00192535,0.00228311,0.0656585,0.959275
7317,P00747,A,T,620,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,0.01,0.02,,,,158,13661,ENSG00000122194,ENST00000308192,CCDS5279.1,PLG,0.77,probably_damaging,0.997,deleterious,0.02,3.37905,17.4,P00747_A620T,A,T,620,AT,A620T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.141,-3.007,1.866,,.,B,0.22,-0.75,6.845,,83.33,0.00106409,0,0.0362876,0.814251
7336,P54278,S,I,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,0,0,0,,,,,,149,2608,ENSG00000122512,ENST00000265849,CCDS5343.1,PMS2,0.05,probably_damaging,1,deleterious,0,5.18866,32,P54278_S46I,S,I,46,SI,S46I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-1.028,-4.017,2.989,0.024,H,A,0.75,-1.27,1.958,,13.57,0.000324911,0,0.0110801,0.607533
7439,P78330,D,N,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,13038,46,ENSG00000146733,ENST00000421312,,PSPH,0.69,probably_damaging,0.915,deleterious,0.01,2.97962,15.93,P78330_D32N,D,N,32,DN,D32N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.339,-3.034,1.695,0.116,H,A,0.14,0.68,3.959,,72,0.00335812,0,0.114519,0.900735
7442,P08236,R,W,560,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.08,0,0,0,,,,,,15139,321,ENSG00000169919,ENST00000345660,,GUSB,0.93,possibly_damaging,0.882,deleterious,0,3.47596,17.79,P08236_R560W,R,W,560,RW,R560W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00163401,0,0.0557232,0.910399
7443,P08236,R,L,526,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,3527,52,ENSG00000169919,ENST00000345660,,GUSB,0.88,benign,0.293,deleterious,0,3.34155,17.25,P08236_R526L,R,L,526,RL,R526L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00231577,0,0.0789725,0.963394
7545,O43511,V,D,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,14425,42750,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.31,possibly_damaging,0.803,deleterious,0,4.36837,23,O43511_V239D,V,D,239,VD,V239D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.695,-4.237,2.542,,,,,,1.872,,88.97,0.00153597,0,0.0523796,0.866797
7562,O43511,L,Q,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,223,166,ENSG00000091137,ENST00000544569,,SLC26A4,0.72,probably_damaging,0.985,deleterious,0,2.38501,13.93,O43511_L263Q,L,Q,263,LQ,L263Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,,,,,,,,,,,,0.0013582,0,0.0463174,0.912434
7593,P13569,R,H,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,60175,126802,ENSG00000001626,ENST00000426809,,CFTR,0.22,probably_damaging,1,deleterious,0,5.2364,33,P13569_R317H,R,H,317,RH,R317H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000256614,0,0.00875108,1.0021
7594,P13569,R,P,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,0,0,0,,,,,,60175,126802,ENSG00000001626,ENST00000426809,,CFTR,0.22,probably_damaging,1,deleterious,0.01,4.82171,27.3,P13569_R317P,R,P,317,RP,R317P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.000256614,0,0.00875108,0.962088
7595,P13569,R,L,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,60175,126802,ENSG00000001626,ENST00000426809,,CFTR,0.22,probably_damaging,1,deleterious,0.01,5.17059,32,P13569_R317L,R,L,317,RL,R317L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.000256614,0,0.00875108,0.980977
7596,P13569,A,V,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,0,0,0,,,,,,60181,126796,ENSG00000001626,ENST00000426809,,CFTR,0.22,possibly_damaging,0.567,deleterious,0.03,5.10614,32,P13569_A319V,A,V,319,AV,A319V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.000415709,0,0.0141765,0.992904
7640,P13569,Q,P,1041,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,36,6862,ENSG00000001626,ENST00000426809,,CFTR,0.72,probably_damaging,1,deleterious,0.01,4.45094,23.7,P13569_Q1041P,Q,P,1041,QP,Q1041P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,,,,,,,,,,,,0.000407646,0,0.0139016,0.99275
7644,P13569,T,I,1190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,0,0,0,0.001,0.002,,,,16095,199,ENSG00000001626,ENST00000426809,,CFTR,0.83,benign,0.002,tolerated,0.62,-0.838158,0.578,P13569_T1190I,T,I,1190,TI,T1190I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.000863525,0,0.029448,0.990755
7681,Q9HBG4,Y,X,502,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.04,,,,,,,,,8070,5418,ENSG00000105929,ENST00000310018,CCDS5849.1,ATP6V0A4,0.6,,,,,6.14617,37,Q9HBG4_Y502X,Y,X,502,YX,Y502X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00167446,0,0.0571026,0.8948
7711,P35523,R,S,496,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,23401,12557,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.5,benign,0.206,deleterious,0.03,2.39311,13.96,P35523_R496S,R,S,496,RS,R496S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.281,-3.163,1.882,,,,,,,,,0.000402868,0,0.0137386,0.870905
7787,P06858,G,E,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,14415,766,ENSG00000175445,ENST00000520959,,LPL,0.81,probably_damaging,0.997,deleterious,0,5.02937,29.7,P06858_G93E,G,E,93,GE,G93E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00222757,0,0.0759648,0.957627
7788,P06858,D,G,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.08,,,,,,,,,15155,26,ENSG00000175445,ENST00000520959,,LPL,0.93,probably_damaging,0.999,deleterious,0,4.15869,21.5,P06858_D107G,D,G,107,DG,D107G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00063402,0,0.0216214,0.983875
7937,Q7Z7G8,R,X,1974,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,121536,542,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.49,,,,,11.9172,45,Q7Z7G8_R1974X,R,X,1974,RX,R1974X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7944,Q7Z7G8,S,L,2773,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,804419,59895,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.69,probably_damaging,0.975,deleterious,0,5.37189,34,Q7Z7G8_S2773L,S,L,2773,SL,S2773L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.363,-3.129,1.766,,,,,,0.949,,15.94,,,,0.833262
7957,Q14117,Q,R,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,0.001,0.01,,,,38983,48647,ENSG00000147647,ENST00000351513,CCDS6302.1,DPYS,0.64,probably_damaging,0.996,deleterious,0,4.91688,28.4,Q14117_Q334R,Q,R,334,QR,Q334R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.358,-3.035,1.677,0.177,H,A,0.56,-1.61,,,,0.000139114,0,0.00474408,0.734815
7985,O43525,P,S,454,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,0.003,0,0.004,0.002,,,,0.01,312894,5224,ENSG00000184156,ENST00000521134,CCDS56554.1,KCNQ3,0.6,probably_damaging,0.999,tolerated,0.09,4.38149,23.2,O43525_P454S,P,S,454,PS,P454S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.00127449,0,0.0434627,0.917158
7986,O43525,N,S,348,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,0.001,0.002,,,,306072,12046,ENSG00000184156,ENST00000521134,CCDS56554.1,KCNQ3,0.46,possibly_damaging,0.77,deleterious,0.03,4.07455,21,O43525_N348S,N,S,348,NS,N348S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.000172613,0,0.00588648,0.993928
8035,P23378,A,V,389,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,0,0,0,,,,,,10164,5902,ENSG00000178445,ENST00000321612,CCDS34987.1,GLDC,0.38,probably_damaging,1,deleterious,0,4.98386,29.2,P23378_A389V,A,V,389,AV,A389V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,0.000218804,0,0.00746167,0.91209
8038,P17643,R,X,83,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,6058,4464,ENSG00000107165,ENST00000381137,,TYRP1,0.34,,,,,11.0956,44,P17643_R83X,R,X,83,RX,R83X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8124,Q9UDY2,V,A,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,11205,2173,ENSG00000119139,ENST00000535702,CCDS55315.1,TJP2,0.04,probably_damaging,0.996,deleterious,0,5.11125,32,Q9UDY2_V52A,V,A,52,VA,V52A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,,,,,,,,,,,,,,,0.950829
8125,Q8TDI8,R,X,34,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,0.001,0.002,,,,45929,141484,ENSG00000165091,ENST00000297784,CCDS6643.1,TMC1,0.04,,,,,8.91043,41,Q8TDI8_R34X,R,X,34,RX,R34X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000264963,0,0.0090358,0.977351
8169,P37058,S,L,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,0,0,0,,,,,,981,1558,ENSG00000130948,ENST00000375263,CCDS6716.1,HSD17B3,0.75,probably_damaging,0.983,deleterious,0,3.06901,16.25,P37058_S232L,S,L,232,SL,S232L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.146,-3.175,2.029,,,,,,,,,0.0069158,0,0.235843,0.777245
8171,P37058,N,S,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,3420,1084,ENSG00000130948,ENST00000375263,CCDS6716.1,HSD17B3,0.42,probably_damaging,1,deleterious,0,3.90068,19.83,P37058_N130S,N,S,130,NS,N130S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.162,-2.713,1.551,,,,,,,,,0.00123076,0,0.0419714,0.838997
8174,P37058,A,T,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,3654,62991,ENSG00000130948,ENST00000375263,CCDS6716.1,HSD17B3,0.18,probably_damaging,0.988,deleterious,0,4.08619,21,P37058_A56T,A,T,56,AT,A56T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.013,-3.014,2.001,,,,,,,,,0.00606902,0,0.206966,0.80596
8192,Q14032,S,S,286,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.44,0.01,,,,,,,,,8649,1323,ENSG00000136881,ENST00000395051,CCDS6752.1,BAAT,0.68,,,,,-0.137251,3.328,Q14032_S286S,S,S,286,SS,S286S,Polar,Polar,5.68,5.68,0,105,105,0,89,89,0,0,,,,,,,,,,,,0.00465445,0,0.158726,0.966073
8213,O95477,Y,X,573,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.05,,,,,,,,,109,5507,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.25,,,,,10.5504,44,O95477_Y573X,Y,X,573,YX,Y573X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00014467,0,0.00493353,0.971376
8419,P08559,L,F,185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,75,53,ENSG00000131828,ENST00000540249,CCDS55382.1,PDHA1,0.52,probably_damaging,0.998,deleterious,0,4.20472,21.8,P08559_L185F,L,F,185,LF,L185F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,0.00549976,0,0.187553,0.964052
8425,P08559,R,C,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,1538,106,ENSG00000131828,ENST00000540249,CCDS55382.1,PDHA1,0.75,probably_damaging,1,deleterious,0,5.31831,34,P08559_R271C,R,C,271,RC,R271C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00547521,0,0.186716,0.907423
8441,O43462,F,S,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,42883,2906,ENSG00000012174,ENST00000379484,CCDS14201.1,MBTPS2,0.92,benign,0.3,deleterious,0,3.75941,19.09,O43462_F475S,F,S,475,FS,F475S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.517,-3.422,1.905,,,,,,0.795,,32.37,0.00460477,0,0.157032,0.859038
8493,P11532,Q,X,2264,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.04,,,,,,,,,26,808321,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.61,,,,,17.4667,51,P11532_Q2264X,Q,X,2264,QX,Q2264X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8500,P11532,Q,X,1405,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,716589,47091,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.38,,,,,11.7488,45,P11532_Q1405X,Q,X,1405,QX,Q1405X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8507,P11532,K,X,770,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,626534,137146,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.21,,,,,9.86651,43,P11532_K770X,K,X,770,KX,K770X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
8508,P11532,Q,X,673,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,583051,28714,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.18,,,,,8.90176,41,P11532_Q673X,Q,X,673,QX,Q673X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8521,P51811,W,X,314,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,42309,4063,ENSG00000047597,ENST00000378616,CCDS14241.1,XK,0.71,,,,,6.16744,37,P51811_W314X,W,X,314,WX,W314X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00156821,0,0.0534792,0.881419
8649,P00480,L,F,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,32,2336,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.42,probably_damaging,0.991,deleterious,0,4.13114,21.3,P00480_L148F,L,F,148,LF,L148F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.706,-3.316,1.61,,H,A,0.03,-0.15,23.084,23.084,58.76,0.00506133,0,0.172602,0.83152
8650,P00480,L,F,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,32,2336,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.42,probably_damaging,0.991,deleterious,0,4.19143,21.7,P00480_L148F,L,F,148,LF,L148F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.706,-3.316,1.61,,H,A,0.03,-0.15,23.084,23.084,58.76,0.00506133,0,0.172602,0.83152
8651,P00480,L,R,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,24,2328,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.43,probably_damaging,0.999,deleterious,0,4.439,23.6,P00480_L151R,L,R,151,LR,L151R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.141,-3.352,2.211,0.022,H,A,1.75,0.26,14.87,14.87,57.91,0.00318452,0,0.108599,0.646913
8658,P00480,I,N,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,4,2301,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.45,probably_damaging,0.976,deleterious,0,4.54891,24.6,P00480_I160N,I,N,160,IN,I160N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.091,-4.388,3.297,,E,B,1.09,-0.6,1.541,,93.5,0.0021516,0,0.0733741,0.626406
8659,P00480,I,T,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,4,2301,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.45,possibly_damaging,0.758,deleterious,0,4.52269,24.4,P00480_I160T,I,T,160,IT,I160T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.091,-3.672,2.581,,E,B,0.7,-0.6,4.668,,93.5,0.0021516,0,0.0733741,0.685198
8660,P00480,I,S,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,4,2301,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.45,probably_damaging,0.931,deleterious,0,4.46113,23.8,P00480_I160S,I,S,160,IS,I160S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-1.091,-3.896,2.805,,E,B,0.75,-0.6,3.025,,93.5,0.0021516,0,0.0733741,0.610494
8663,P00480,G,R,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,9,2296,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.46,probably_damaging,1,deleterious,0,5.08286,31,P00480_G162R,G,R,162,GR,G162R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.078,-4.086,3.008,,S,A,0.91,-0.83,1.653,,52.26,0.00403414,0,0.137572,0.516174
8664,P00480,G,R,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,9,2296,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.46,probably_damaging,1,deleterious,0,4.96225,28.9,P00480_G162R,G,R,162,GR,G162R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.078,-4.086,3.008,,S,A,0.91,-0.83,1.653,,52.26,0.00403414,0,0.137572,0.516174
8754,P00480,H,P,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,7559,2968,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.72,benign,0.112,deleterious,0.01,1.16393,9.737,P00480_H255P,H,P,255,HP,H255P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-3.02,-4.322,1.302,0.682,T,b,0.35,-0.36,2.475,,93.79,0.00534281,0,0.182201,0.876155
8755,P00480,L,S,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7574,2953,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.73,probably_damaging,0.996,deleterious,0,4.30164,22.5,P00480_L260S,L,S,260,LS,L260S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.427,-3.942,2.515,,E,B,0.82,-0.66,1.709,,57.34,0.0059114,0,0.201591,0.482037
8760,P00480,T,A,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7585,2942,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.75,probably_damaging,0.965,deleterious,0,4.47496,23.9,P00480_T264A,T,A,264,TA,T264A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.276,-3.182,1.906,0.079,.,B,0.22,-0.4,4.321,,53.67,0.00498011,0,0.169832,0.724322
8761,P00480,T,N,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7586,2941,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.75,possibly_damaging,0.721,deleterious,0,4.24859,22.1,P00480_T264N,T,N,264,TN,T264N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,-1.276,-3.239,1.963,0.079,.,B,0.39,-0.4,21.025,21.025,53.67,0.00498011,0,0.169832,0.663493
8762,P00480,T,I,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7586,2941,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.75,probably_damaging,1,deleterious,0,4.18016,21.6,P00480_T264I,T,I,264,TI,T264I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.276,-3.466,2.19,0.079,.,B,0.7,-0.4,7.282,,53.67,0.00498011,0,0.169832,0.568524
8766,P00480,S,R,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7594,2933,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.75,probably_damaging,0.999,deleterious,0,4.5476,24.6,P00480_S267R,S,R,267,SR,S267R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-0.899,-3.893,2.994,0.16,.,B,0.93,-0.11,4.239,,59.89,0.00116262,0,0.0396477,0.64028
8767,P00480,M,T,268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7598,2929,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.76,probably_damaging,0.995,deleterious,0,3.92978,20,P00480_M268T,M,T,268,MT,M268T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-0.988,-3.609,2.621,0.395,T,B,0.77,-0.13,2.231,,65.54,0.00100861,0,0.0343957,0.795069
8768,P00480,G,E,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7601,2926,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.76,probably_damaging,1,deleterious,0,4.793,27,P00480_G269E,G,E,269,GE,G269E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.558,-3.831,3.273,0.391,T,l,0.75,0.51,1.627,,59.89,0.000348591,0,0.0118877,0.771926
8769,P00480,R,W,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,7624,2903,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.78,probably_damaging,1,deleterious,0,3.83311,19.47,P00480_R277W,R,W,277,RW,R277W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.034,-5.554,4.52,0.021,H,A,1.67,0.45,0.347,,81.36,0.00219758,0,0.0749421,0.705691
8782,P00480,C,R,303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10538,12,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.86,probably_damaging,0.994,deleterious,0,4.05065,20.8,P00480_C303R,C,R,303,CR,C303R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-0.852,-4.195,3.343,0.124,.,A,1.66,-0.71,9.326,,87.01,0.00194402,0,0.0662951,0.618737
8783,P00480,C,G,303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10538,12,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.86,probably_damaging,0.996,deleterious,0,4.12323,21.3,P00480_C303G,C,G,303,CG,C303G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-0.852,-3.682,2.83,0.124,.,A,0.75,-0.71,3.799,,87.01,0.00194402,0,0.0662951,0.641045
8784,P00480,C,Y,303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10539,13,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.86,probably_damaging,0.995,deleterious,0,4.32951,22.7,P00480_C303Y,C,Y,303,CY,C303Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-0.852,-4.262,3.41,0.124,.,A,0.25,-0.71,2.944,,87.01,0.00194402,0,0.0662951,0.64814
8785,P00480,L,F,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10543,17,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.86,probably_damaging,0.967,deleterious,0,3.37506,17.38,P00480_L304F,L,F,304,LF,L304F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-0.722,-3.805,3.083,0.131,S,g,0.03,-0.99,3.902,,79.94,0.00192136,0,0.0655222,0.682213
8786,P00480,P,H,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10545,19,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.86,probably_damaging,1,deleterious,0,4.45658,23.8,P00480_P305H,P,H,305,PH,P305H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-0.587,-4.83,4.243,0.534,.,B,0.35,-0.58,,,,0.00144452,0,0.0492612,0.665715
8787,P00480,P,R,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10545,19,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.86,probably_damaging,1,deleterious,0,4.34383,22.9,P00480_P305R,P,R,305,PR,P305R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.587,-4.083,3.496,0.534,.,B,0.68,-0.58,,,,0.00144452,0,0.0492612,0.668687
8788,P00480,E,X,310,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,10559,33,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.88,,,,,3.60559,18.35,P00480_E310X,E,X,310,EX,E310X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00223001,0,0.0760481,0.961863
8789,P00480,E,G,310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10560,34,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.88,probably_damaging,0.997,deleterious,0,3.41293,17.53,P00480_E310G,E,G,310,EG,E310G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-0.79,-3.524,2.734,0.005,T,A,0.75,0.23,3.18,,87.01,0.00223001,0,0.0760481,0.702732
8790,P00480,V,M,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10562,36,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.88,probably_damaging,1,deleterious,0,3.44558,17.66,P00480_V311M,V,M,311,VM,V311M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.036,-3.397,2.361,,B,B,0.11,-0.38,6.223,6.223,38.7,0.00342311,0,0.116735,0.685988
8791,P00480,V,F,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10574,48,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.89,probably_damaging,0.972,deleterious,0,2.67592,14.91,P00480_V315F,V,F,315,VF,V315F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.077,-4.053,2.976,,H,A,0.14,-0.4,3.902,,87.01,0.00385882,0,0.131594,0.707168
8792,P00480,V,D,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10575,49,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.89,probably_damaging,0.984,deleterious,0,2.42748,14.08,P00480_V315D,V,D,315,VD,V315D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.077,-4.192,3.115,,H,A,1.19,-0.4,1.582,,87.01,0.00385882,0,0.131594,0.65072
8793,P00480,V,G,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10575,49,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.89,probably_damaging,0.989,deleterious,0,2.29653,13.64,P00480_V315G,V,G,315,VG,V315G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.077,-3.895,2.818,,H,A,0.73,-0.4,3.143,,87.01,0.00385882,0,0.131594,0.632773
8794,P00480,F,S,316,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10578,52,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.89,probably_damaging,0.999,deleterious,0,3.02134,16.08,P00480_F316S,F,S,316,FS,F316S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.524,-3.88,2.356,0.053,H,A,0.85,-0.51,3.475,,87.01,0.00924335,0,0.315217,0.611354
8795,P00480,S,F,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,10584,58,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.9,benign,0.347,deleterious,0.01,1.4932,10.94,P00480_S318F,S,F,318,SF,S318F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.755,-3.685,1.93,0.12,S,B,0.85,-0.17,31.359,31.359,92.09,0.00684725,0,0.233505,0.778277
8796,P00480,R,X,320,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,10589,63,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.9,,,,,2.26227,13.52,P00480_R320X,R,X,320,RX,R320X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00536545,0,0.182973,0.933136
8856,Q00604,L,R,13,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.05,,,,,,,,,8876,8926,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.1,probably_damaging,0.912,deleterious,0,3.56524,18.17,Q00604_L13R,L,R,13,LR,L13R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.208,-3.668,2.46,,,,,,,,,0.00710973,0.00833333,0.242456,0.762389
8862,O75695,R,X,120,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.07,,,,,,,,,16791,28628,ENSG00000102218,ENST00000218340,CCDS14270.1,RP2,0.34,,,,,5.85994,36,O75695_R120X,R,X,120,RX,R120X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00219494,0,0.074852,0.959768
8916,P51795,S,P,520,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,20640,2268,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.7,probably_damaging,0.998,deleterious,0,4.25943,22.2,P51795_S520P,S,P,520,SP,S520P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.187,-3.737,2.55,,,,,,1.868,,70.38,0.000794262,0,0.027086,0.952133
8923,O95972,Q,X,211,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,5275,549,ENSG00000130385,ENST00000252677,CCDS14334.1,BMP15,0.54,,,,,1.15452,9.701,O95972_Q211X,Q,X,211,QX,Q211X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8924,O95972,Y,C,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,5348,476,ENSG00000130385,ENST00000252677,CCDS14334.1,BMP15,0.6,probably_damaging,0.976,deleterious,0,1.20731,9.903,O95972_Y235C,Y,C,235,YC,Y235C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.134,-4.869,3.735,,,,,,0.577,,65.82,,,,0.751812
8943,Q9UPP1,K,X,177,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,5601,73406,ENSG00000172943,ENST00000338154,CCDS14355.1,PHF8,0.17,,,,,9.60737,42,Q9UPP1_K177X,K,X,177,KX,K177X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
9064,P46020,G,R,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,46614,86798,ENSG00000067177,ENST00000373545,,PHKA1,0.19,probably_damaging,0.959,deleterious,0,3.87571,19.7,P46020_G223R,G,R,223,GR,G223R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.00039945,0,0.0136221,0.78896
9162,Q06187,E,X,240,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,25554,11176,ENSG00000010671,ENST00000372880,,BTK,0.5,,,,,7.90204,39,Q06187_E240X,E,X,240,EX,E240X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00102222,0,0.03486,0.910457
9168,Q06187,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.44,0.03,,,,,,,,,10866,977,ENSG00000010671,ENST00000372880,,BTK,0,possibly_damaging,0.86,deleterious,0,2.8731,15.57,Q06187_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.803,-3.152,1.349,,,,,,3.406,,67.98,0.00100172,0,0.0341609,0.960721
9186,P06280,D,V,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,95,24,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.62,probably_damaging,1,deleterious,0,4.77239,26.8,P06280_D266V,D,V,266,DV,D266V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-0.924,-3.609,2.685,0.037,.,p,1.19,-0.5,,,,0.000384373,0,0.0131079,0.585061
9187,P06280,D,V,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,101,18,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.62,probably_damaging,0.998,deleterious,0,4.27626,22.3,P06280_D264V,D,V,264,DV,D264V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.071,-3.655,2.584,0.055,E,b,1.19,-0.88,1.312,,53.38,0.000599692,0,0.0204507,0.540498
9193,P06280,C,W,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,155,672,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.47,probably_damaging,1,deleterious,0,3.06047,16.22,P06280_C202W,C,W,202,CW,C202W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.252,-4.733,3.481,,E,B,0.01,-0.25,1.929,,70.16,0.00127471,0,0.0434704,0.652656
9195,P06280,A,T,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,860,343,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.36,possibly_damaging,0.868,deleterious,0,5.98273,37,P06280_A156T,A,T,156,AT,A156T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-0.949,-3.052,2.103,,H,A,0.22,-0.1,,,,0.00215262,0,0.0734089,0.737619
9221,P60201,F,S,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,439,40,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.83,benign,0.058,deleterious,0,3.02312,16.09,P60201_F202S,F,S,202,FS,F202S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,0.00525091,0,0.179067,0.907986
9222,P60201,A,V,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,454,25,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.86,benign,0.043,tolerated,1,0.706038,7.764,P60201_A207V,A,V,207,AV,A207V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00454628,0,0.155037,0.95391
9226,P05543,L,F,303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,0.116,0.123,0.112,0.14,0.2,0.14,0.11,0.11,911,683,ENSG00000123561,ENST00000327674,CCDS14518.1,SERPINA7,0.73,possibly_damaging,0.868,deleterious,0.05,2.67259,14.9,P05543_L303F,L,F,303,LF,L303F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.388,-2.599,1.211,,E,B,0.03,-0.41,13.561,13.561,81.2,0.00320848,0,0.109416,0.878315
9228,P05543,L,P,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,13,1581,ENSG00000123561,ENST00000327674,CCDS14518.1,SERPINA7,0.6,possibly_damaging,0.581,tolerated,0.1,1.72347,11.72,P05543_L247P,L,P,247,LP,L247P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.451,-4.117,2.666,0.19,E,B,1.07,-0.03,1.073,,76.63,0.00397941,0,0.135706,0.72422
9231,P05543,A,P,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,733,3456,ENSG00000123561,ENST00000327674,CCDS14518.1,SERPINA7,0.32,probably_damaging,0.975,deleterious,0.01,1.53035,11.07,P05543_A133P,A,P,133,AP,A133P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.666,-3.789,2.123,,E,B,0.52,-0.77,2.357,,84.82,0.00333499,0,0.11373,0.688101
9234,P60891,D,N,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,7,1760,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.2,benign,0.427,tolerated,0.12,4.01578,20.6,P60891_D65N,D,N,65,DN,D65N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.497,-2.826,1.329,0.256,H,A,0.14,-0.86,,,,0.00272247,0,0.092842,0.802269
9236,P60891,N,S,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1578,189,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.36,possibly_damaging,0.53,deleterious,0,4.29092,22.4,P60891_N114S,N,S,114,NS,N114S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.701,-2.539,0.838,0.325,H,A,0.34,-1.24,,,,0.00260565,0,0.0888579,0.736263
9237,P60891,M,T,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1581,186,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.36,probably_damaging,0.915,deleterious,0,3.50496,17.91,P60891_M115T,M,T,115,MT,M115T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.733,-3.025,0.292,0.293,H,A,0.77,-0.98,,,,0.00415788,0,0.141792,0.822417
9238,P60891,L,I,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,1622,145,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.41,probably_damaging,0.951,deleterious,0,3.884,19.74,P60891_L129I,L,I,129,LI,L129I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,-1.611,-2.489,0.878,0.058,.,B,0.07,-0.91,,,,0.00185532,0,0.0632702,0.839886
9264,P29400,G,D,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,136065,121595,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.12,,,deleterious,0,3.92058,19.94,P29400_G195D,G,D,195,GD,G195D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,2.42e-05,0,0.000824591,0.812925
9277,P29400,R,X,266,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,140666,116994,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.16,,,,,8.10369,40,P29400_R266X,R,X,266,RX,R266X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000281394,0,0.00959613,0.977351
9298,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.44,0.01,,,,,,,,,4256,40522,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.02403,20.6,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9299,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.44,0.01,,,,,,,,,4257,40521,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,3.75471,19.06,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9306,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.44,0,,,,,,,,,9067,35711,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,0.415486,6.257,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9308,P29400,G,E,469,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,9135,35643,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.28,,,deleterious,0,1.96288,12.52,P29400_G469E,G,E,469,GE,G469E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,0.000178905,0,0.00610104,0.806888
9311,P29400,G,E,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,13065,31713,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.29,,,deleterious,0,3.86079,19.61,P29400_G491E,G,E,491,GE,G491E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,0.000185369,0,0.00632147,0.806888
9312,P29400,G,D,494,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,13074,31704,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.29,,,deleterious,0,3.63157,18.47,P29400_G494D,G,D,494,GD,G494D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.000176587,0,0.00602199,0.808386
9327,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.44,0.01,,,,,,,,,15077,29701,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.5619,24.7,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9336,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.44,0.01,,,,,,,,,16379,28399,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,2.87153,15.57,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9337,P29400,G,R,653,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,18909,25869,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.39,,,tolerated,0.1,3.58679,18.27,P29400_G653R,G,R,653,GR,G653R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.000147817,0,0.00504087,0.790148
9340,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.44,0.04,,,,,,,,,18994,25784,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.24104,22.1,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9370,P29400,G,E,902,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,847,4726,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.53,,,deleterious,0,4.17905,21.6,P29400_G902E,G,E,902,GE,G902E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.809,-3.482,2.673,,,,,,,,,2.4e-05,0,0.000817842,0.808191
9381,P29400,Q,X,94,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.01,,,,,,,,,3058,822,ENSG00000188153,ENST00000505728,,COL4A5,0.54,,,,,2.8444,15.47,P29400_Q94X,Q,X,94,QX,Q94X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,6.98e-05,0,0.00237977,0.989951
9398,P29400,,,,Transcript,INTRONIC,2,intron,pathogenic,0.44,0.01,,,,,,,,,225614,32046,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,2.19993,13.31,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9422,P29400,Q,X,1399,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0,,,,,,,,,11,5634,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.83,,,,,12.0551,45,P29400_Q1399X,Q,X,1399,QX,Q1399X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000267496,0,0.00912217,0.98231
9428,P29400,S,F,1494,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,5770,147,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.88,probably_damaging,1,deleterious,0,4.10403,21.1,P29400_S1494F,S,F,1494,SF,S1494F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.00108689,0,0.037065,0.901749
9439,P29400,G,D,68,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,2083,1858,ENSG00000188153,ENST00000504541,,COL4A5,0.93,probably_damaging,0.972,tolerated,0.06,4.66729,25.7,P29400_G68D,G,D,68,GD,G68D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.000111359,0,0.00379756,0.986481
9440,P29400,Y,X,69,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,2087,1854,ENSG00000188153,ENST00000504541,,COL4A5,0.95,,,,,4.75294,26.6,P29400_Y69X,Y,X,69,YX,Y69X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000109748,0,0.00374264,0.977829
9463,P50052,G,V,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,0.003,0.001,0.005,0.001,,,,0.002,1620,2631,ENSG00000180772,ENST00000371906,CCDS14569.1,AGTR2,0.06,benign,0,tolerated,0.16,-1.39736,0.023,P50052_G21V,G,V,21,GV,G21V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.486,-3.524,2.038,,,,,,2.177,,71.07,0.0018462,0.00292398,0.0629591,0.967145
9466,P50052,I,V,337,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,2567,1684,ENSG00000180772,ENST00000371906,CCDS14569.1,AGTR2,0.93,benign,0.002,tolerated,0.72,-0.719714,0.909,P50052_I337V,I,V,337,IV,I337V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.773,-1.858,0.085,,,,,,17.8,17.8,66.12,0.0167709,0.0384615,0.571922,0.998841
9481,P42263,R,S,631,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,243469,55093,ENSG00000125675,ENST00000371256,CCDS14605.1,GRIA3,0.71,probably_damaging,1,deleterious,0,3.54983,18.11,P42263_R631S,R,S,631,RS,R631S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.582,-3.067,1.485,,,,,,,,,0.000432738,0,0.0147573,0.889031
9523,P00492,F,L,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,1894,23374,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.34,probably_damaging,0.957,deleterious,0,3.48113,17.81,P00492_F74L,F,L,74,FL,F74L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.524,-2.59,1.066,0.024,H,A,0.03,-1.13,,,,0.00279122,0,0.0951863,0.780178
9555,P29965,A,E,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,8150,4014,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.47,probably_damaging,0.995,deleterious,0,3.98098,20.4,P29965_A123E,A,E,123,AE,A123E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.187,-3.569,2.382,0.184,E,B,1.04,-0.6,2.512,,48.66,0.00611149,0,0.208414,0.552342
9604,P00740,G,V,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,30984,323,ENSG00000101981,ENST00000394090,,F9,0.75,probably_damaging,1,deleterious,0,3.90041,19.83,P00740_G317V,G,V,317,GV,G317V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00165165,0,0.0563248,0.895825
9605,P00740,G,R,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,30989,318,ENSG00000101981,ENST00000394090,,F9,0.75,probably_damaging,1,deleterious,0,4.24041,22.1,P00740_G319R,G,R,319,GR,G319R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00306033,0,0.104364,0.945499
9609,P00740,C,R,344,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,31064,243,ENSG00000101981,ENST00000394090,,F9,0.81,probably_damaging,1,deleterious,0,3.29612,17.07,P00740_C344R,C,R,344,CR,C344R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00356441,0,0.121554,0.940732
9610,P00740,R,X,346,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.03,,,,,,,,,31070,237,ENSG00000101981,ENST00000394090,,F9,0.82,,,,,4.01851,20.6,P00740_R346X,R,X,346,RX,R346X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00375805,0,0.128157,0.951177
9615,P00740,S,L,368,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.01,,,,,,,,,31137,170,ENSG00000101981,ENST00000394090,,F9,0.87,possibly_damaging,0.899,deleterious,0,5.25249,33,P00740_S368L,S,L,368,SL,S368L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00296804,0,0.101216,0.949277
9616,P00740,G,V,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,31146,161,ENSG00000101981,ENST00000394090,,F9,0.88,probably_damaging,1,deleterious,0,4.00249,20.5,P00740_G371V,G,V,371,GV,G371V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00291955,0,0.0995627,0.945923
9617,P00740,D,H,372,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,31148,159,ENSG00000101981,ENST00000394090,,F9,0.88,probably_damaging,1,deleterious,0,4.46859,23.9,P00740_D372H,D,H,372,DH,D372H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,,,,,,,,,,,,0.00382347,0,0.130388,0.964243
9621,P00740,V,E,381,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0,,,,,,,,,31176,131,ENSG00000101981,ENST00000394090,,F9,0.9,probably_damaging,0.975,deleterious,0.01,3.39126,17.44,P00740_V381E,V,E,381,VE,V381E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,,,,,,,,,,,,0.00308833,0,0.105319,0.963902
9628,P22304,G,A,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,7421,158,ENSG00000010404,ENST00000541269,,IDS,0.82,probably_damaging,0.998,deleterious,0,4.81758,27.3,P22304_G278A,G,A,278,GA,G278A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,,,,,,,,,,,,0.00341387,0,0.11642,0.96467
9665,Q13496,R,X,129,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.44,0.08,,,,,,,,,72790,4462,ENSG00000171100,ENST00000542741,,MTM1,0.31,,,,,6.29658,37,Q13496_R129X,R,X,129,RX,R129X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00144893,0,0.0494114,0.900587
9667,Q13496,Y,C,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.03,,,,,,,,,89337,13682,ENSG00000171100,ENST00000542741,,MTM1,0.73,possibly_damaging,0.882,deleterious,0,3.74581,19.02,Q13496_Y302C,Y,C,302,YC,Y302C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00187366,0,0.0638958,0.940838
9799,O60832,D,N,359,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.04,,,,,,,,,25,2105,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.7,possibly_damaging,0.454,deleterious,0.02,4.17261,21.6,O60832_D359N,D,N,359,DN,D359N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.324,-1.938,0.614,0.854,S,A,0.14,1.12,28.222,28.222,89.11,0.00172006,0,0.0586577,0.96725
9829,Q05066,S,N,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.44,0.07,,,,,,,,,53,447,ENSG00000184895,ENST00000534739,,SRY,0.11,benign,0.033,tolerated,0.08,0.527296,6.856,Q05066_S18N,S,N,18,SN,S18N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-2.027,-3.296,1.269,,,,,,1.597,,50,0.00430119,0.00537634,0.146679,0.955175
66,Q96SN8,L,P,571,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.45,0.05,0.007,0.002,0.01,0.01,,,0.002,0.02,11,71219,ENSG00000136861,ENST00000349780,CCDS6823.1,CDK5RAP2,0.3,possibly_damaging,0.823,deleterious,0,3.8887,19.77,Q96SN8_L571P,L,P,571,LP,L571P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.198,-4.227,3.029,,,,,,1.33,,77.87,,,,0.812751
375,O75445,G,R,713,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.45,0.04,0.067,0.174,0.011,0.04,,0.02,0.17,0.01,172464,76987,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.46,probably_damaging,0.993,deleterious,0,3.51496,17.95,O75445_G713R,G,R,713,GR,G713R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
171,P50897,L,Q,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,206,8,ENSG00000131238,ENST00000433473,CCDS447.1,PPT1,0.72,probably_damaging,0.985,deleterious,0,4.56979,24.8,P50897_L219Q,L,Q,219,LQ,L219Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.039,-3.941,2.902,,H,A,1.19,-1.11,,,,0.00581053,0,0.198151,0.523661
278,P36871,T,A,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,6428,30701,ENSG00000079739,ENST00000371084,CCDS625.1,PGM1,0.2,probably_damaging,0.996,deleterious,0,4.67776,25.8,P36871_T115A,T,A,115,TA,T115A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.245,-2.588,1.343,,,,,,,,,,,,0.868045
285,Q16518,R,W,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.07,0,0,0,,,,,,5102,16036,ENSG00000116745,ENST00000262340,CCDS643.1,RPE65,0.17,possibly_damaging,0.448,deleterious,0.01,3.3094,17.12,Q16518_R91W,R,W,91,RW,R91W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.355,H,A,1.67,-0.08,,,,0.00241989,0,0.0825233,0.683087
386,O43395,A,D,489,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,1050,175,ENSG00000117360,ENST00000324862,CCDS951.1,PRPF3,0.72,probably_damaging,0.999,deleterious,0,5.20123,33,O43395_A489D,A,D,489,AD,A489D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.175,-3.429,2.254,,,,,,,,,0.00220822,0,0.0753048,0.791446
410,P55265,K,X,995,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,21,2589,ENSG00000160710,ENST00000292205,,ADAR,0.78,,,,,9.45475,42,P55265_K995X,K,X,995,KX,K995X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00103795,0,0.0353963,0.912628
535,P12259,Q,X,806,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0,,,,,,,,,43900,28523,ENSG00000198734,ENST00000367796,,F5,0.36,,,,,6.75188,38,P12259_Q806X,Q,X,806,QX,Q806X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000139931,0,0.00477193,0.983498
700,O14896,R,W,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.05,,,,,,,,,933,274,ENSG00000117595,ENST00000542854,CCDS55681.1,IRF6,0.82,probably_damaging,1,deleterious,0,3.73145,18.95,O14896_R305W,R,W,305,RW,R305W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00141082,0,0.0481118,0.910399
770,Q99698,R,X,1104,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.04,,,,,,,,,61095,14253,ENSG00000143669,ENST00000536965,,LYST,0.8,,,,,10.8777,44,Q99698_R1104X,R,X,1104,RX,R1104X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
783,Q92736,S,L,2230,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,364440,197822,ENSG00000198626,ENST00000542537,,RYR2,0.45,probably_damaging,0.98,deleterious,0,4.79732,27.1,Q92736_S2230L,S,L,2230,SL,S2230L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,,,,0.932753
785,Q92736,N,I,2370,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,370441,191821,ENSG00000198626,ENST00000542537,,RYR2,0.48,possibly_damaging,0.824,deleterious,0.01,5.03203,29.7,Q92736_N2370I,N,I,2370,NI,N2370I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,,,,,,,,,,,,,,,0.932969
954,P36894,W,X,271,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.07,,,,,,,,,78405,1994,ENSG00000107779,ENST00000224764,CCDS7378.1,BMPR1A,0.51,,,,,9.5669,42,P36894_W271X,W,X,271,WX,W271X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
956,P36894,C,Y,376,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,80565,167,ENSG00000107779,ENST00000224764,CCDS7378.1,BMPR1A,0.71,probably_damaging,1,deleterious,0,4.52982,24.4,P36894_C376Y,C,Y,376,CY,C376Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,,,,0.755919
1010,O95970,E,A,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.08,,,,,,,,,39356,881,ENSG00000108231,ENST00000542308,,LGI1,0.66,probably_damaging,0.996,deleterious,0,3.68093,18.7,O95970_E335A,E,A,335,EA,E335A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,,,,,,,,,,,,,,,0.939738
1085,P21802,Y,H,251,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.08,,,,,,,,,1445,51,ENSG00000066468,ENST00000336553,,FGFR2,0.38,probably_damaging,0.945,deleterious,0,4.46676,23.9,P21802_Y251H,Y,H,251,YH,Y251H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.000816685,0,0.0278506,0.99151
1115,P04181,A,T,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.05,,,,,,,,,396,1689,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.15,possibly_damaging,0.706,tolerated,0.08,5.18806,32,P04181_A46T,A,T,46,AT,A46T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00421631,0,0.143785,0.968401
1232,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.45,0.01,,,,,,,,,76,566,,ENSR00000317289,,,,,,,,0.67008,7.588,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1256,Q86WG5,Q,X,959,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,7872,8976,ENSG00000133812,ENST00000256190,CCDS31427.1,SBF2,0.52,,,,,9.74948,42,Q86WG5_Q959X,Q,X,959,QX,Q959X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1302,P00338,E,X,358,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,1658,15,ENSG00000134333,ENST00000540430,CCDS53609.1,LDHA,0.99,,,,,6.97131,38,P00338_E358X,E,X,358,EX,E358X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
1578,P50416,Y,X,32,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.05,,,,,,,,,125,2941,ENSG00000110090,ENST00000569129,,CPT1A,0.27,,,,,5.50432,35,P50416_Y32X,Y,X,32,YX,Y32X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000879918,0,0.030007,0.970188
1682,P14679,A,T,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,676,22043,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.39,benign,0.128,deleterious,0,4.35017,22.9,P14679_A206T,A,T,206,AT,A206T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.168,-3.506,2.338,,,,,,2.653,,60.87,0.00133963,0,0.0456842,0.865202
1708,Q9Y210,S,T,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,71,545,ENSG00000137672,ENST00000532133,,TRPC6,0.32,probably_damaging,0.939,deleterious,0,4.48391,24,Q9Y210_S270T,S,T,270,ST,S270T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.239,-2.748,1.509,,,,,,,,,0.000178771,0,0.00609645,0.920091
1757,O14521,H,N,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,6056,241,ENSG00000204370,ENST00000375549,CCDS31678.1,SDHD,0.91,benign,0.007,tolerated,0.67,0.852206,8.447,O14521_H145N,H,N,145,HN,H145N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,-1.596,-2.159,0.563,0.682,H,a,0.44,0.84,15.537,15.537,50.94,0.0155714,0,0.531016,0.943325
1843,O75443,R,C,1890,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.07,,,,,,,,,65469,22672,ENSG00000109927,ENST00000264037,CCDS8434.1,TECTA,0.88,probably_damaging,0.947,deleterious,0,3.92873,19.99,O75443_R1890C,R,C,1890,RC,R1890C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.569,-4.927,3.358,,,,,,0.513,,59.54,0.000135362,0,0.00461614,0.811319
1862,P48048,M,T,338,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,0.007,0.002,0.009,0.01,,0.003,,0.01,3304,487,ENSG00000151704,ENST00000324036,CCDS8477.1,KCNJ1,0.91,benign,0.071,tolerated,0.39,0.784569,8.138,P48048_M338T,M,T,338,MT,M338T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.00340476,0,0.116109,0.966173
1877,Q9H4A3,R,X,44,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.04,0,0,0,,,,,,129,498,ENSG00000060237,ENST00000574679,,WNK1,0.18,,,,,3.77153,19.15,Q9H4A3_R44X,R,X,44,RX,R44X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2168,P61626,I,T,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,1806,315,ENSG00000090382,ENST00000548839,,LYZ,0.71,probably_damaging,0.996,deleterious,0,4.34976,22.9,P61626_I74T,I,T,74,IT,I74T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.126,-3.277,2.151,0.008,T,A,0.7,-0.75,,,,0.00693854,0,0.236619,0.6241
2169,P61626,F,I,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,1808,313,ENSG00000090382,ENST00000548839,,LYZ,0.72,probably_damaging,0.93,deleterious,0,4.59014,25,P61626_F75I,F,I,75,FI,F75I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,-1.295,-3.076,1.781,,T,A,0.1,-0.71,6.765,,58.78,0.00497467,0,0.169647,0.767739
2181,O60938,R,X,313,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.04,,,,,,,,,6516,977,ENSG00000139330,ENST00000266719,CCDS9037.1,KERA,0.89,,,,,4.88632,28.1,O60938_R313X,R,X,313,RX,R313X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0114379,0.025641,0.390057,0.917368
2241,Q15020,V,M,591,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.05,0,0,0,,,,,,1682,76,ENSG00000075856,ENST00000228284,CCDS9117.1,SART3,0.61,benign,0.22,tolerated,0.18,3.05845,16.21,Q15020_V591M,V,M,591,VM,V591M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.887,-4.231,2.344,,,,,,1.817,,92.52,0.00135077,0,0.0460641,0.884575
2242,P13051,S,P,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,121,4443,ENSG00000076248,ENST00000542183,,UNG,0.08,,,,,2.57624,14.57,P13051_S5P,S,P,5,SP,S5P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.00200168,0,0.0682614,0.972937
2257,P16615,C,F,241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,38,4419,ENSG00000174437,ENST00000395494,,ATP2A2,0.24,probably_damaging,0.96,deleterious,0,4.61071,25.2,P16615_C241F,C,F,241,CF,C241F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,0.000889536,0,0.030335,0.968803
2268,Q06124,D,G,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,31448,36562,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.1,possibly_damaging,0.785,tolerated,0.09,4.9427,28.7,Q06124_D61G,D,G,61,DG,D61G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.264,-2.815,1.551,0.768,S,A,0.46,1.38,,,,0.00105179,0,0.0358682,0.922764
2269,Q06124,Y,D,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,31450,36560,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.1,probably_damaging,0.979,deleterious,0.02,4.78214,26.9,Q06124_Y62D,Y,D,62,YD,Y62D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.437,-3.6,2.163,0.343,.,b,0.96,-0.92,,,,0.00130824,0,0.0446138,0.611151
2388,Q9Y619,E,K,180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,14221,1,ENSG00000102743,ENST00000338625,CCDS9373.1,SLC25A15,0.6,probably_damaging,0.992,deleterious,0,5.6704,36,Q9Y619_E180K,E,K,180,EK,E180K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.448,-3.016,1.568,,,,,,2.803,,61.46,0.00449698,0,0.153356,0.940105
2400,P43657,Q,X,155,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.05,,,,,,,,,529,220,ENSG00000139679,ENST00000345941,CCDS9410.1,LPAR6,0.45,,,,,10.1745,43,P43657_Q155X,Q,X,155,QX,Q155X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00271192,0,0.0924822,0.955443
2401,P43657,G,R,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.05,,,,,,,,,502,247,ENSG00000139679,ENST00000345941,CCDS9410.1,LPAR6,0.42,possibly_damaging,0.88,tolerated,0.07,3.21805,16.78,P43657_G146R,G,R,146,GR,G146R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.929,-2.566,0.637,,,,,,28.403,28.403,82.56,0.00458348,0,0.156306,0.985194
2446,P35670,Q,X,289,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,380,9581,ENSG00000123191,ENST00000400370,,ATP7B,0.28,,,,,5.47658,35,P35670_Q289X,Q,X,289,QX,Q289X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000407581,0,0.0138994,0.98231
2454,Q9Y625,R,X,234,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.05,,,,,,,,,5611,12110,ENSG00000183098,ENST00000377047,CCDS9469.1,GPC6,0.42,,,,,10.2688,43,Q9Y625_R234X,R,X,234,RX,R234X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2467,P49917,R,X,580,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.05,,,,,,,,,5252,1314,ENSG00000174405,ENST00000405925,CCDS9508.1,LIG4,0.64,,,,,7.76987,39,P49917_R580X,R,X,580,RX,R580X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000287415,0,0.00980144,0.977351
2615,P06737,N,I,632,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,177,1555,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.75,probably_damaging,0.999,deleterious,0,4.6474,25.5,P06737_N632I,N,I,632,NI,N632I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.26,-3.746,2.486,0.188,H,A,1.09,0.33,,,,0.000348524,0,0.0118854,0.697103
2628,P30793,M,T,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,58339,1112,ENSG00000131979,ENST00000491895,CCDS9720.1,GCH1,0.88,benign,0.026,tolerated,0.9,0.883713,8.587,P30793_M221T,M,T,221,MT,M221T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.644,-3.261,1.617,0.688,.,b,0.77,1.82,2.334,,58.8,0.00878466,0,0.299575,0.856644
2691,P61916,P,S,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,1435,9,ENSG00000119655,ENST00000555592,,NPC2,0.99,probably_damaging,1,deleterious,0,4.20121,21.8,P61916_P120S,P,S,120,PS,P120S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.021,-2.27,1.249,0.654,.,B,0.25,-0.42,16.895,16.895,76.82,0.00509206,0,0.17365,0.897647
2720,P16473,Q,X,324,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,27387,3275,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.42,,,,,5.94056,36,P16473_Q324X,Q,X,324,QX,Q324X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00154877,0.00227273,0.0528162,0.904853
2786,P68032,R,H,314,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,1360,5,ENSG00000159251,ENST00000290378,CCDS10041.1,ACTC1,0.83,probably_damaging,1,,,4.58155,24.9,P68032_R314H,R,H,314,RH,R314H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.961,-3.833,1.872,0.043,H,A,1.03,0,,,,0.000489791,0,0.0167029,0.783537
2855,P35555,C,Y,1032,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,157229,57717,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.36,probably_damaging,0.978,deleterious,0,4.96945,29,P35555_C1032Y,C,Y,1032,CY,C1032Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,,,,0.755919
2967,Q9NVI1,R,X,1051,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.03,,,,,,,,,7459,672,ENSG00000140525,ENST00000561894,,FANCI,0.96,,,,,6.77448,38,Q9NVI1_R1051X,R,X,1051,RX,R1051X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000868492,0,0.0296174,0.977351
3330,Q9BXC9,Q,X,59,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.03,,,,,,,,,1509,4619,ENSG00000125124,ENST00000568104,,BBS2,0.09,,,,,6.96267,38,Q9BXC9_Q59X,Q,X,59,QX,Q59X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00124776,0,0.0425511,0.904853
3371,P17735,S,X,223,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.04,,,,,,,,,4907,5964,ENSG00000198650,ENST00000355962,CCDS10903.1,TAT,0.49,,,,,6.50178,37,P17735_S223X,S,X,223,SX,S223X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00366691,0,0.125049,0.953542
3577,P51648,C,Y,214,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,47,76,ENSG00000072210,ENST00000395575,CCDS11210.1,ALDH3A2,0.44,probably_damaging,0.998,deleterious,0,4.91819,28.4,P51648_C214Y,C,Y,214,CY,C214Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,,E,B,0.25,-0.83,,,,0.00257281,0,0.0877382,0.529936
3750,P08514,C,R,705,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,11734,5589,ENSG00000005961,ENST00000353281,,ITGA2B,0.7,probably_damaging,1,deleterious,0,3.78417,19.21,P08514_C705R,C,R,705,CR,C705R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,0.000793673,0,0.0270659,0.785818
4116,O43520,R,X,602,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.04,,,,,,,,,56959,28420,ENSG00000081923,ENST00000283684,CCDS11965.1,ATP8B1,0.48,,,,,7.17458,38,O43520_R602X,R,X,602,RX,R602X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,6.06e-05,0,0.00206533,0.984992
4142,P32245,N,S,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,604,834,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.19,probably_damaging,1,deleterious,0,4.04266,20.8,P32245_N62S,N,S,62,NS,N62S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.162,-2.713,1.551,,,,,,,,,0.000624223,0,0.0212873,0.919196
4654,Q07837,M,K,467,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.07,,,,,,,,,8847,138,ENSG00000138079,ENST00000260649,CCDS1819.1,SLC3A1,0.68,probably_damaging,0.956,deleterious,0,4.66551,25.7,Q07837_M467K,M,K,467,MK,M467K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.397,-3.401,2.004,,,,,,1,,40.15,0.00276305,0,0.0942256,0.869574
4655,Q07837,M,T,467,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.07,0.002,0.001,0.003,,,,,,8847,138,ENSG00000138079,ENST00000260649,CCDS1819.1,SLC3A1,0.68,possibly_damaging,0.548,deleterious,0.02,3.95742,20.2,Q07837_M467T,M,T,467,MT,M467T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.397,-3.322,1.925,,,,,,1.349,,40.15,0.00276305,0,0.0942256,0.915912
4857,Q99250,R,Q,1319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,77558,7673,ENSG00000136531,ENST00000283256,CCDS33314.1,SCN2A,0.66,probably_damaging,0.999,tolerated,0.05,5.6753,36,Q99250_R1319Q,R,Q,1319,RQ,R1319Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,,,,,,,,,,,,0.854838
5016,P02751,L,R,1884,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,5,52,ENSG00000115414,ENST00000432072,,FN1,0.83,possibly_damaging,0.885,deleterious,0,4.87882,28,P02751_L1884R,L,R,1884,LR,L1884R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.000106575,0,0.00363442,0.987473
5118,Q6Y7W6,D,E,549,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,581,6179,ENSG00000204120,ENST00000423659,,GIGYF2,0.76,probably_damaging,0.982,deleterious,0,3.80531,19.32,Q6Y7W6_D549E,D,E,549,DE,D549E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,,,,,,,,,,,,0.000557125,0,0.0189991,0.997449
5288,Q9NPJ1,L,P,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,19238,7501,ENSG00000125863,ENST00000399054,CCDS13111.1,MKKS,0.49,probably_damaging,0.928,deleterious,0,3.84754,19.54,Q9NPJ1_L277P,L,P,277,LP,L277P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.26,-4.095,2.835,,,,,,1.408,,87.02,0.00119895,0,0.0408868,0.856415
5349,P11387,E,K,418,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,36707,2968,ENSG00000198900,ENST00000361337,CCDS13312.1,TOP1,0.55,probably_damaging,0.973,deleterious,0,5.05964,31,P11387_E418K,E,K,418,EK,E418K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.514,-2.784,1.27,0.15,.,B,1.3,-0.05,6.771,,74.9,0.00106023,0,0.0361562,0.81104
5472,P00441,G,R,38,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,478,654,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.25,probably_damaging,0.998,deleterious,0,4.5,24.2,P00441_G38R,G,R,38,GR,G38R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,0.425,S,l,0.91,-0.06,,,,0.00430266,0,0.146729,0.652034
5488,P00441,I,F,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,7622,11,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.68,probably_damaging,0.97,deleterious,0,3.49444,17.87,P00441_I105F,I,F,105,IF,I105F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.365,-3.51,2.145,0.008,S,B,0.1,-0.41,3.662,,66.88,0.00679693,0,0.231789,0.733943
5494,P00441,I,T,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,8859,364,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.99,probably_damaging,0.913,deleterious,0.01,4.23865,22.1,P00441_I152T,I,T,152,IT,I152T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.365,-3.314,1.949,0.173,E,B,0.7,0.03,2.073,,61.69,0.0239231,0,0.815828,0.761663
5860,P37173,R,C,460,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,67627,19907,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.81,probably_damaging,1,deleterious,0,3.67417,18.67,P37173_R460C,R,C,460,RC,R460C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,,,,0.719288
5902,P40692,A,T,440,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.05,,,,,,,,,22979,1583,ENSG00000076242,ENST00000455445,CCDS54563.1,MLH1,0.85,possibly_damaging,0.61,deleterious,0,4.60219,25.1,P40692_A440T,A,T,440,AT,A440T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,,,,0.956543
5938,Q8WTS1,Q,P,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,11213,115,ENSG00000011198,ENST00000456453,,ABHD5,0.7,probably_damaging,0.986,deleterious,0.01,4.40574,23.4,Q8WTS1_Q89P,Q,P,89,QP,Q89P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,,,,,,,,,,,,0.00192337,0,0.0655909,0.973468
6069,P28069,R,Q,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,14303,2263,ENSG00000064835,ENST00000561167,,POU1F1,0.45,benign,0.001,deleterious,0,4.57011,24.8,P28069_R97Q,R,Q,97,RQ,R97Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00405437,0,0.138263,0.968556
6070,P28069,R,X,97,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,14302,2264,ENSG00000064835,ENST00000561167,,POU1F1,0.45,,,,,5.19707,33,P28069_R97X,R,X,97,RX,R97X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00405437,0,0.138263,0.951177
6103,Q93099,P,S,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,0.001,,0.003,,,1931,11071,ENSG00000113924,ENST00000494453,,HGD,0.26,probably_damaging,1,deleterious,0,4.7219,26.3,Q93099_P37S,P,S,37,PS,P37S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.0028294,0,0.0964883,0.967518
6104,Q93099,G,R,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,0,0,0,,,,,,12,68,ENSG00000113924,ENST00000476082,,HGD,0.85,probably_damaging,1,deleterious,0,4.90592,28.3,Q93099_G120R,G,R,120,GR,G120R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00376992,0,0.128562,0.945499
6114,P41180,N,K,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,2918,390,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.11,possibly_damaging,0.894,tolerated,0.1,3.70648,18.83,P41180_N118K,N,K,118,NK,N118K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-2.266,-2.668,0.402,,,,,,9.741,9.741,34.69,0.0015485,0,0.0528071,0.958108
6234,P58418,M,K,8,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,30,241,ENSG00000163646,ENST00000485607,,CLRN1,0.2,possibly_damaging,0.442,,,2.83814,15.45,P58418_M8K,M,K,8,MK,M8K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,,,,,,,,,,,,0.00545262,0,0.185946,0.946597
6320,Q13144,L,S,68,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,718,361,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.09,possibly_damaging,0.883,deleterious,0,4.94757,28.8,Q13144_L68S,L,S,68,LS,L68S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.333,-3.444,2.111,,,,,,3.064,,89.46,0.00167586,0,0.0571502,0.871827
6321,Q13144,V,G,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,703,346,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.1,possibly_damaging,0.596,deleterious,0.01,4.57838,24.9,Q13144_V73G,V,G,73,VG,V73G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.201,-3.36,2.159,,,,,,,,,0.00189222,0,0.0645284,0.780441
6367,P04196,G,E,103,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,967,8287,ENSG00000113905,ENST00000232003,CCDS3280.1,HRG,0.2,probably_damaging,0.984,deleterious,0,3.98376,20.4,P04196_G103E,G,E,103,GE,G103E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.741,-3.54,2.799,,,,,,,,,0.00118386,0,0.040372,0.720241
6528,Q9Y6R1,R,S,298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,108653,25602,ENSG00000080493,ENST00000340595,CCDS3549.1,SLC4A4,0.29,possibly_damaging,0.596,deleterious,0,4.40011,23.3,Q9Y6R1_R298S,R,S,298,RS,R298S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,,,,,,,,,,,,,,,0.912913
6576,P55157,G,X,865,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.05,0,0,0,,,,,,3158,468,ENSG00000138823,ENST00000457717,CCDS3651.1,MTTP,0.97,,,,,8.06927,40,P55157_G865X,G,X,865,GX,G865X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.0106386,0,0.362797,0.918322
6602,Q8NHS3,G,D,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,402,144,ENSG00000164073,ENST00000513559,,MFSD8,0.81,probably_damaging,0.986,deleterious,0,4.83377,27.5,Q8NHS3_G384D,G,D,384,GD,G384D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00395124,0.00746269,0.134745,0.951954
6626,P02671,E,V,545,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,4972,535,ENSG00000171560,ENST00000302053,CCDS3787.1,FGA,0.63,benign,0.13,tolerated,0.27,0.471873,6.561,P02671_E545V,E,V,545,EV,E545V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,-2.627,-2.931,0.304,,,,,,6.964,6.964,81.64,0.00155027,0,0.0528674,1.00378
6651,Q6ZWL3,E,D,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,3002,16280,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.15,benign,0.006,tolerated,0.62,0.273797,5.481,Q6ZWL3_E79D,E,D,79,ED,E79D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-2.251,-2.462,0.211,,,,,,30.906,30.906,84.76,0.00398062,0,0.135747,1.01583
6704,O14746,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.45,0.07,,,,,,,,,13,87,ENSG00000164362,ENST00000296820,,TERT,,,,,,0.605179,7.261,O14746_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6722,Q8TE73,Q,X,610,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.05,,,,,,,,,43068,211145,ENSG00000039139,ENST00000265104,CCDS3882.1,DNAH5,0.13,,,,,8.36206,40,Q8TE73_Q610X,Q,X,610,QX,Q610X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6729,Q9H6L5,Q,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,51271,92734,ENSG00000154153,ENST00000306320,CCDS43304.1,FAM134B,0.29,,,,,6.31426,37,Q9H6L5_Q145X,Q,X,145,QX,Q145X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6732,Q9UMX9,E,K,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,0.028,0.05,0.017,0.16,0.39,0.23,0.05,0.01,20473,123,ENSG00000164175,ENST00000382102,CCDS43308.1,SLC45A2,0.59,benign,0.012,tolerated,0.16,1.52705,11.06,Q9UMX9_E272K,E,K,272,EK,E272K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.589,-1.993,0.404,,,,,,23.159,23.159,83.58,0.0022254,0,0.0758907,1.01202
6743,Q6KC79,R,X,45,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,572,20358,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.02,,,,,8.59308,41,Q6KC79_R45X,R,X,45,RX,R45X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6764,P02748,C,G,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.05,,,,,,,,,23229,186,ENSG00000113600,ENST00000263408,CCDS3929.1,C9,0.21,probably_damaging,1,deleterious,0,3.58295,18.25,P02748_C119G,C,G,119,CG,C119G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-0.747,-3.682,2.935,,,,,,,,,0.000589672,0,0.020109,0.797588
6776,P10912,C,X,56,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.03,,,,,,,,,123065,30871,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.09,,,,,5.79319,36,P10912_C56X,C,X,56,CX,C56X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000987932,0,0.0336905,0.910821
6785,P10912,I,T,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,134040,19896,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.27,probably_damaging,0.992,deleterious,0,4.61536,25.2,P10912_I171T,I,T,171,IT,I171T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.216,-3.271,2.055,0.008,E,B,0.7,-1.19,1.221,,24.45,0.000870493,0,0.0296856,0.622537
6792,P10912,I,L,544,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,0.436,0.389,0.461,0.44,0.58,0.41,0.37,0.4,5270,323,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.85,possibly_damaging,0.893,deleterious,0.01,2.48223,14.26,P10912_I544L,I,L,544,IL,I544L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,-1.566,-2.688,1.122,,,,,,8.761,,72.88,0.0021773,0,0.0742504,0.986835
6810,Q8N4S9,R,X,500,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.03,,,,,,,,,13720,7409,ENSG00000152939,ENST00000512803,,MARVELD2,0.97,,,,,7.85574,39,Q8N4S9_R500X,R,X,500,RX,R500X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6882,Q9Y6B6,G,V,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.05,,,,0.001,0.002,,,,6094,3,ENSG00000152700,ENST00000509730,,SAR1B,0.99,probably_damaging,0.992,deleterious,0,4.25502,22.2,Q9Y6B6_G117V,G,V,117,GV,G117V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00806943,0,0.275184,0.927582
6954,Q8TF17,W,X,307,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.03,,,,,,,,,3171,6790,ENSG00000169247,ENST00000515425,CCDS4293.1,SH3TC2,0.24,,,,,6.2685,37,Q8TF17_W307X,W,X,307,WX,W307X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000178199,0,0.00607695,0.956807
6963,P50443,G,V,678,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,3646,5780,ENSG00000155850,ENST00000286298,CCDS4300.1,SLC26A2,0.92,probably_damaging,0.954,deleterious,0,3.42294,17.57,P50443_G678V,G,V,678,GV,G678V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.056,-3.65,2.594,,,,,,1.69,,66.71,0.00389706,0,0.132898,0.845079
7067,P00488,N,K,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,168,374,ENSG00000124491,ENST00000451619,,F13A1,0.59,probably_damaging,1,deleterious,0,3.16736,16.6,P00488_N86K,N,K,86,NK,N86K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.00149745,0,0.0510663,0.907717
7090,Q8N0V5,R,H,385,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,0,0,0,,,,,,40806,6,ENSG00000111846,ENST00000265012,CCDS4513.1,GCNT2,0.96,benign,0.163,deleterious,0.01,3.73238,18.95,Q8N0V5_R385H,R,H,385,RH,R385H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.335,-4.257,2.922,,,,,,2.49,,81.34,0.0164107,0,0.55964,0.837543
7174,Q13950,X,S,508,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.45,0.03,,,,,,,,,124819,2,ENSG00000124813,ENST00000359524,CCDS4913.1,RUNX2,1,,,,,3.99978,20.5,Q13950_X508S,X,S,508,XS,X508S,Stop,Polar,5.71,5.68,-0.03,132.5,105,-27.5,141.9,89,-52.9,,,,,,,,,,,,,0.0135853,0,0.463286,0.931056
7184,P22033,W,R,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,4038,28794,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.14,probably_damaging,1,deleterious,0,2.33326,13.76,P22033_W105R,W,R,105,WR,W105R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-0.818,-4.158,3.34,0.005,.,b,1.67,-1.02,,,,0.000174058,0,0.00593575,0.511107
7185,P22033,R,H,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,0.001,,,,0.001,4003,28829,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.12,probably_damaging,1,deleterious,0,5.24026,33,P22033_R93H,R,H,93,RH,R93H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.943,-4.298,3.355,0.244,T,A,1.03,-0.72,0.763,,59.07,0.000385012,0,0.0131297,0.687491
7186,P22033,Q,X,18,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,3777,29055,ENSG00000146085,ENST00000274813,CCDS4924.1,MUT,0.02,,,,,4.33449,22.8,P22033_Q18X,Q,X,18,QX,Q18X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000656282,0,0.0223806,0.98231
7197,P08F94,S,F,3018,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,339048,27714,ENSG00000170927,ENST00000340994,CCDS4936.1,PKHD1,0.89,probably_damaging,0.999,deleterious,0.02,2.61858,14.72,P08F94_S3018F,S,F,3018,SF,S3018F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.195,-3.968,2.773,,,,,,1.556,,74.74,,,,0.810812
7199,P08F94,V,M,1741,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,0,0,0,,,,,,63022,303740,ENSG00000170927,ENST00000340994,CCDS4936.1,PKHD1,0.51,probably_damaging,0.941,deleterious,0,2.77573,15.24,P08F94_V1741M,V,M,1741,VM,V1741M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.36,-4.028,2.668,,,,,,2.304,,62.4,,,,0.804686
7245,Q5TD94,Q,X,154,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.04,,,,,,,,,459,15359,ENSG00000111834,ENST00000368581,CCDS55051.1,RSPH4A,0.26,,,,,4.75834,26.7,Q5TD94_Q154X,Q,X,154,QX,Q154X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7299,Q6PHW0,A,T,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,0,0,0,,,,,,24249,1307,ENSG00000009765,ENST00000500320,,IYD,0.77,possibly_damaging,0.837,deleterious,0,4.11559,21.2,Q6PHW0_A220T,A,T,220,AT,A220T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.285,-2.972,1.687,,H,A,0.22,-1.04,7.19,,87.54,0.00519004,0,0.176991,0.75586
7313,P00747,V,F,374,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,0.001,0.004,,,,20171,8801,ENSG00000122194,ENST00000308192,CCDS5279.1,PLG,0.46,possibly_damaging,0.634,deleterious,0.04,2.44137,14.12,P00747_V374F,V,F,374,VF,V374F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.689,-3.947,2.258,,,,,,2.995,,77.41,0.00127215,0.00229358,0.043383,0.870188
7322,O60260,T,M,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.08,0,0,0,,,,,,754352,428205,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.49,benign,0.41,deleterious,0,3.08678,16.31,O60260_T212M,T,M,212,TM,T212M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00182643,0,0.0622849,0.974464
7323,O60260,T,R,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.08,,,,,,,,,754352,428205,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.49,possibly_damaging,0.454,deleterious,0,3.5166,17.96,O60260_T212R,T,R,212,TR,T212R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,,,,,,,,,,,,0.00182643,0,0.0622849,0.959501
7433,P20711,S,F,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,39958,11378,ENSG00000132437,ENST00000426377,CCDS56485.1,DDC,0.43,probably_damaging,0.995,deleterious,0,4.35971,23,P20711_S172F,S,F,172,SF,S172F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.00170214,0,0.0580466,0.905366
7781,P06858,Y,X,12,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.01,,,,,,,,,12527,46,ENSG00000175445,ENST00000520959,,LPL,0.1,,,,,5.1379,32,P06858_Y12X,Y,X,12,YX,Y12X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000994843,0,0.0339262,0.902575
7884,P49638,H,Q,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,13060,13207,ENSG00000137561,ENST00000260116,CCDS6178.1,TTPA,0.36,benign,0.033,tolerated,0.06,2.38514,13.93,P49638_H101Q,H,Q,101,HQ,H101Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.752,-3.823,2.071,,E,B,0.47,-0.42,1.453,,88.85,0.0061456,0,0.209578,0.745005
7916,Q9NQW8,Y,D,469,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.05,0.003,0.008,0,0.001,,,0.01,,114682,55059,ENSG00000170289,ENST00000320005,CCDS6244.1,CNGB3,0.58,possibly_damaging,0.854,deleterious,0.05,3.62096,18.42,Q9NQW8_Y469D,Y,D,469,YD,Y469D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.295,-3.558,2.263,,,,,,4.326,,51.92,0.000891336,0,0.0303964,0.824436
7963,P34981,R,X,17,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.04,0,0,0,,,,,,137,32007,ENSG00000174417,ENST00000311762,CCDS6311.1,TRHR,0.04,,,,,5.01645,29.6,P34981_R17X,R,X,17,RX,R17X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7967,Q9UHF7,A,V,923,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.07,,,,,,,,,73863,3929,ENSG00000104447,ENST00000520276,,TRPS1,0.72,probably_damaging,0.998,deleterious,0,4.39179,23.2,Q9UHF7_A923V,A,V,923,AV,A923V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,,,,0.954618
8160,Q00597,Q,X,13,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.03,,,,,,,,,67640,77212,ENSG00000158169,ENST00000433829,,FANCC,0.09,,,,,4.92026,28.4,Q00597_Q13X,Q,X,13,QX,Q13X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00226863,0,0.0773648,0.964034
8191,Q14032,I,V,323,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,8758,1214,ENSG00000136881,ENST00000395051,CCDS6752.1,BAAT,0.77,benign,0.141,tolerated,0.25,0.627834,7.376,Q14032_I323V,I,V,323,IV,I323V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.481,-1.786,0.305,,,,,,18.807,18.807,69.86,0.00442125,0,0.150774,1.05448
8330,Q9NRR6,Q,X,627,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.07,,,,,,,,,10092,1112,ENSG00000148384,ENST00000371712,CCDS7000.1,INPP5E,0.97,,,,,8.7818,41,Q9NRR6_Q627X,Q,X,627,QX,Q627X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0109806,0,0.374461,0.922492
8410,P46019,Q,X,766,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.03,,,,,,,,,75734,16565,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.62,,,,,12.5598,46,P46019_Q766X,Q,X,766,QX,Q766X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000760009,0,0.0259179,0.98231
8481,P11532,R,X,3381,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.05,,,,,,,,,4177,312,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.92,,,,,19.5537,52,P11532_R3381X,R,X,3381,RX,R3381X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8506,P11532,K,E,773,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,626543,137137,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.21,probably_damaging,0.993,deleterious,0.01,4.43891,23.6,P11532_K773E,K,E,773,KE,K773E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.265,-2.725,1.46,,,,,,,,,,,,0.863306
8652,P00480,A,V,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,21,2325,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.43,benign,0.213,deleterious,0.01,3.80332,19.31,P00480_A152V,A,V,152,AV,A152V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.331,-2.657,1.326,0.175,H,A,0.44,-0.28,18.177,18.177,57.91,0.00330737,0,0.112788,0.777954
8653,P00480,E,X,154,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.03,,,,,,,,,16,2320,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.44,,,,,8.19826,40,P00480_E154X,E,X,154,EX,E154X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00603129,0,0.205679,0.927758
8656,P00480,A,E,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,12,2316,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.44,probably_damaging,0.981,deleterious,0,5.12027,32,P00480_A155E,A,E,155,AE,A155E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.325,-3.715,2.39,0.097,.,B,1.04,-0.28,4.185,,81.07,0.00500132,0,0.170555,0.683063
8657,P00480,I,T,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,1,2304,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.45,probably_damaging,0.947,deleterious,0,4.36011,23,P00480_I159T,I,T,159,IT,I159T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.427,-3.55,2.123,0.008,E,B,0.7,-0.62,3.85,,75.42,0.00321382,0,0.109598,0.706984
8691,P00480,H,L,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.05,,,,,,,,,2259,46,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.51,probably_damaging,0.991,tolerated,0.17,4.39764,23.3,P00480_H182L,H,L,182,HL,H182L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-2.27,-3.032,0.762,0.547,H,A,0.72,-0.7,22.064,22.064,34.75,0.00632093,0,0.215557,0.814736
8756,P00480,T,K,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,7580,2947,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.74,probably_damaging,1,deleterious,0,4.86771,27.8,P00480_T262K,T,K,262,TK,T262K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.001,-3.687,2.686,0.007,E,b,2.12,-0.63,3.246,,59.89,0.00252849,0,0.0862267,0.47358
8757,P00480,T,I,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,7580,2947,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.74,probably_damaging,1,deleterious,0,4.66856,25.7,P00480_T262I,T,I,262,TI,T262I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.001,-3.824,2.823,0.007,E,b,0.7,-0.63,3.799,,59.89,0.00252849,0,0.0862267,0.595072
8758,P00480,D,N,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,7582,2945,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.74,probably_damaging,1,deleterious,0,5.21673,33,P00480_D263N,D,N,263,DN,D263N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.596,-3.373,2.777,0.055,.,B,0.14,-0.58,,,,0.00049004,0,0.0167114,0.641804
8759,P00480,D,G,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,7583,2944,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.74,probably_damaging,1,deleterious,0,4.48333,24,P00480_D263G,D,G,263,DG,D263G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.596,-3.284,2.688,0.055,.,B,0.46,-0.58,,,,0.00049004,0,0.0167114,0.590327
8763,P00480,W,R,265,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,7588,2939,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.75,probably_damaging,0.949,deleterious,0.03,4.01934,20.6,P00480_W265R,W,R,265,WR,W265R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-0.932,-3.247,2.315,0.082,S,A,1.67,0.06,16.91,16.91,49.15,0.00211471,0,0.072116,0.588354
8764,P00480,W,L,265,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,7589,2938,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.75,probably_damaging,0.999,deleterious,0,4.79837,27.1,P00480_W265L,W,L,265,WL,W265L,Hydrophobic,Hydrophobic,5.89,9.71,3.82,204,131,-73,227.8,166.7,-61.1,61,-0.932,-3.463,2.531,0.082,S,A,0.08,0.06,4.71,,49.15,0.00211471,0,0.072116,0.649279
8765,P00480,W,X,265,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.03,,,,,,,,,7590,2937,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.75,,,,,6.80805,38,P00480_W265X,W,X,265,WX,W265X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00211471,0,0.072116,0.940107
8832,O14936,D,G,681,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,18911,22381,ENSG00000147044,ENST00000421587,CCDS48094.1,CASK,0.76,benign,0.015,tolerated,0.12,3.15748,16.56,O14936_D681G,D,G,681,DG,D681G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.000783939,0,0.0267339,0.983875
8941,Q9UPP1,F,S,43,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,29,11745,ENSG00000172943,ENST00000443302,,PHF8,0.07,probably_damaging,0.998,deleterious,0,3.7864,19.22,Q9UPP1_F43S,F,S,43,FS,F43S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,,,,0.899145
9041,P31785,C,R,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,453,18,ENSG00000147168,ENST00000464642,,IL2RG,0.32,probably_damaging,1,deleterious,0,2.72633,15.08,P31785_C71R,C,R,71,CR,C71R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00315447,0,0.107574,0.940732
9042,P31785,G,D,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,455,20,ENSG00000147168,ENST00000464642,,IL2RG,0.32,probably_damaging,0.999,deleterious,0,3.34424,17.26,P31785_G70D,G,D,70,GD,G70D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00386985,0,0.13197,0.951954
9099,P00558,G,V,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,11005,5537,ENSG00000102144,ENST00000537456,,PGK1,0.33,probably_damaging,1,deleterious,0,4.5227,24.4,P00558_G130V,G,V,130,GV,G130V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.008,-3.435,2.427,0.241,S,b,0.73,0.26,,,,0.00215184,0,0.0733822,0.710579
9103,P00558,D,N,240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,401,99,ENSG00000102144,ENST00000537456,,PGK1,0.62,benign,0.006,tolerated,0.14,3.40344,17.49,P00558_D240N,D,N,240,DN,D240N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00101046,0,0.0344588,0.933711
9112,Q9Y458,T,M,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,3780,4525,ENSG00000122145,ENST00000373291,CCDS43975.1,TBX22,0.35,probably_damaging,0.996,deleterious,0,3.73834,18.98,Q9Y458_T140M,T,M,140,TM,T140M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00191728,0,0.0653831,0.973545
9167,Q06187,R,X,13,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.05,,,,,,,,,10901,942,ENSG00000010671,ENST00000372880,,BTK,0.03,,,,,6.62822,37,Q06187_R13X,R,X,13,RX,R13X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00129525,0,0.0441708,0.900587
9170,P06280,E,X,398,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0,,,,,,,,,788,100,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.93,,,,,2.96741,15.89,P06280_E398X,E,X,398,EX,E398X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.0106756,0.0322581,0.364061,0.919989
9196,P06280,P,S,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,890,373,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.34,probably_damaging,0.991,deleterious,0,5.15499,32,P06280_P146S,P,S,146,PS,P146S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.906,-3.241,2.335,0.135,B,B,0.25,-0.01,,,,0.00186233,0,0.0635094,0.677494
9206,P60201,D,Y,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,290,232,ENSG00000123560,ENST00000455268,,PLP1,0.42,probably_damaging,0.97,deleterious,0.01,3.81231,19.36,P60201_D57Y,D,Y,57,DY,D57Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.493,-2.273,0.78,,,,,,21.542,21.542,84.84,0.00210507,0,0.0717872,0.977419
9219,P60201,G,C,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,433,15,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.77,probably_damaging,0.997,deleterious,0.02,4.6362,25.4,P60201_G186C,G,C,186,GC,G186C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,,,,,,,,,,,,0.00716955,0.010989,0.244496,0.917897
9220,P60201,L,P,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,423,25,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.78,possibly_damaging,0.893,deleterious,0,4.58419,24.9,P60201_L189P,L,P,189,LP,L189P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00628424,0.0113636,0.214305,0.921301
9265,P29400,G,E,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,136074,121586,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.12,,,deleterious,0,3.66406,18.62,P29400_G198E,G,E,198,GE,G198E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,2.41e-05,0,0.000823377,0.811426
9274,P29400,G,E,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,138437,119223,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.14,,,deleterious,0,3.90321,19.85,P29400_G239E,G,E,239,GE,G239E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,2.36e-05,0,0.000806286,0.811426
9309,P29400,G,R,472,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,9143,35635,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.28,,,deleterious,0,2.18372,13.26,P29400_G472R,G,R,472,GR,G472R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.000127624,0,0.00435224,0.790148
9314,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.45,0.01,,,,,,,,,14505,30273,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,3.29213,17.06,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9349,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.45,0,,,,,,,,,20470,24308,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,3.65888,18.6,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9373,P29400,Q,X,8,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0,,,,,,,,,20,3860,ENSG00000188153,ENST00000505728,,COL4A5,0.05,,,,,5.81592,36,P29400_Q8X,Q,X,8,QX,Q8X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000272258,0,0.00928456,0.98231
9380,P29400,G,V,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,3056,824,ENSG00000188153,ENST00000505728,,COL4A5,0.54,probably_damaging,0.98,deleterious,0,4.39087,23.2,P29400_G93V,G,V,93,GV,G93V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.809,-3.571,2.762,,,,,,,,,7.14e-05,0,0.00243641,0.799299
9385,P29400,G,S,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.01,,,,,,,,,3542,338,ENSG00000188153,ENST00000505728,,COL4A5,0.67,probably_damaging,0.926,deleterious,0,4.88307,28,P29400_G117S,G,S,117,GS,G117S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,,,,,,,,,3.2e-05,0,0.0010902,0.841085
9394,P29400,G,D,1086,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,215459,42201,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.64,,,deleterious,0,3.74105,19,P29400_G1086D,G,D,1086,GD,G1086D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,1.85e-05,0,0.000630988,0.812925
9403,P29400,G,R,1182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,226703,30957,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.7,,,deleterious,0,3.60674,18.36,P29400_G1182R,G,R,1182,GR,G1182R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,1.41e-05,0,0.000479231,0.793499
9522,P00492,G,R,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,1883,23385,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.33,possibly_damaging,0.886,deleterious,0.03,4.68006,25.8,P00492_G71R,G,R,71,GR,G71R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.008,-3.615,2.607,0.253,.,B,0.91,-0.07,,,,0.00867263,0,0.295754,0.663434
9542,Q92581,R,X,500,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.45,0.07,,,,,,,,,38897,22775,ENSG00000198689,ENST00000370695,CCDS44003.1,SLC9A6,0.71,,,,,6.67876,38,Q92581_R500X,R,X,500,RX,R500X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9601,P00740,A,P,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.04,,,,,,,,,30929,378,ENSG00000101981,ENST00000394090,,F9,0.71,probably_damaging,1,tolerated,0.95,1.92004,12.38,P00740_A299P,A,P,299,AP,A299P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00352945,0,0.120362,0.976925
9606,P00740,G,E,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0.03,,,,,,,,,30990,317,ENSG00000101981,ENST00000394090,,F9,0.75,probably_damaging,1,deleterious,0,4.61846,25.2,P00740_G319E,G,E,319,GE,G319E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00306033,0,0.104364,0.949036
9618,P00740,S,G,373,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,31151,156,ENSG00000101981,ENST00000394090,,F9,0.88,probably_damaging,1,deleterious,0,4.44835,23.7,P00740_S373G,S,G,373,SG,S373G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,,,,,,,,,,,,0.00334071,0,0.113925,0.966222
9620,P00740,P,T,376,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.45,0,,,,,,,,,31160,147,ENSG00000101981,ENST00000394090,,F9,0.89,probably_damaging,1,deleterious,0,4.01202,20.6,P00740_P376T,P,T,376,PT,P376T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,0.00328541,0,0.112039,0.970517
9647,P22304,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.45,0.03,,,,,,,,,42,121,ENSG00000010404,ENST00000370443,,IDS,,,,,,2.45293,14.16,P22304_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
56,Q9H015,L,F,503,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.46,0.03,0.306,0.083,0.419,0.18,,0.29,0.03,0.37,19509,3580,ENSG00000197208,ENST00000200652,CCDS4153.1,SLC22A4,0.91,benign,0.069,tolerated,0.11,1.08161,9.415,Q9H015_L503F,L,F,503,LF,L503F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.443,-2.778,1.335,,,,,,27.842,27.842,92.74,0.00380012,0,0.150287,0.973494
60,Q96SN8,D,N,31,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.46,0.01,,,,,,,,,7996,263,ENSG00000136861,ENST00000349780,CCDS6823.1,CDK5RAP2,0.02,possibly_damaging,0.626,tolerated,0.27,2.98735,15.96,Q96SN8_D31N,D,N,31,DN,D31N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.741,-2.803,1.062,,,,,,24.578,24.578,80.93,,,,0.952069
64,Q96SN8,G,E,416,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.46,0,0.031,0.036,0.029,0.03,0.05,0.02,0.02,0.03,4370,3913,ENSG00000136861,ENST00000416449,,CDK5RAP2,0.32,probably_damaging,0.983,tolerated,0.06,2.54667,14.48,Q96SN8_G416E,G,E,416,GE,G416E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,,,,0.947149
71,Q96SN8,S,L,255,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.46,0.01,,,,,,,,,2517,2133,ENSG00000136861,ENST00000349780,CCDS6823.1,CDK5RAP2,0.13,benign,0.343,tolerated,0.11,3.47712,17.79,Q96SN8_S255L,S,L,255,SL,S255L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.87,-2.875,1.005,,,,,,29.418,29.418,30.27,,,,0.857915
98,Q8WXF7,D,E,43,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.46,0.03,,,,,,,,,27638,12,ENSG00000198513,ENST00000354525,CCDS32077.1,ATL1,0.08,benign,0.005,tolerated,0.37,2.4058,14,Q8WXF7_D43E,D,E,43,DE,D43E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.648,-1.994,0.346,0.616,T,A,0.29,2.29,18.526,18.526,21.15,0.00214656,0,0.084892,0.935673
213,P29400,I,S,444,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.46,0.01,0.122,0.332,0.002,0.11,0.14,0.04,0.32,0.002,8731,36047,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.26,,,tolerated,0.46,-0.888473,0.462,P29400_I444S,I,S,444,IS,I444S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-2.101,-3.371,1.27,,,,,,6.355,,91.28,2.41e-05,0,0.000953595,0.944915
259,P21817,R,Q,4553,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.46,0.04,0,0,0,0.001,,,,0.001,136920,16945,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.9,,,,,3.54527,18.09,P21817_R4553Q,R,Q,4553,RQ,R4553Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
402,O15118,R,Q,1266,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.46,0.07,0.098,0.231,0.03,0.14,0.2,0.1,0.27,0.03,28101,296,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.99,benign,0.002,tolerated,0.15,1.91092,12.35,O15118_R1266Q,R,Q,1266,RQ,R1266Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.858,-2.249,0.391,,,,,,19.468,19.468,91,0.0326534,0,1.29137,0.984848
22,Q13148,G,S,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,144,591,ENSG00000120948,ENST00000439080,,TARDBP,0.57,benign,0.381,tolerated,0.1,4.29081,22.4,Q13148_G171S,G,S,171,GS,G171S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.0015977,0,0.0544849,0.914812
23,Q13148,G,R,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,144,591,ENSG00000120948,ENST00000439080,,TARDBP,0.57,benign,0.429,deleterious,0.01,4.09757,21.1,Q13148_G171R,G,R,171,GR,G171R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.0015977,0,0.0544849,0.897226
24,Q13148,G,V,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,166,569,ENSG00000120948,ENST00000439080,,TARDBP,0.6,benign,0.318,tolerated,0.47,2.01867,12.71,Q13148_G178V,G,V,178,GV,G178V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00134709,0,0.0459385,0.895825
25,Q13148,G,S,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,168,567,ENSG00000120948,ENST00000439080,,TARDBP,0.6,benign,0.063,tolerated,0.36,3.09155,16.33,Q13148_G179S,G,S,179,GS,G179S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00152764,0,0.0520956,0.914812
26,Q13148,G,R,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,168,567,ENSG00000120948,ENST00000439080,,TARDBP,0.6,possibly_damaging,0.763,tolerated,0.09,4.47644,23.9,Q13148_G179R,G,R,179,GR,G179R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00152764,0,0.0520956,0.897226
129,P35914,V,L,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,14,1154,ENSG00000117305,ENST00000374483,,HMGCL,0.15,possibly_damaging,0.628,tolerated,0.61,3.71845,18.88,P35914_V45L,V,L,45,VL,V45L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,0.000476965,0,0.0162655,0.996285
172,P50897,R,X,151,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,0,0,0,,,,,,2597,8,ENSG00000131238,ENST00000433473,CCDS447.1,PPT1,0.49,,,,,7.58663,39,P50897_R151X,R,X,151,RX,R151X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00698669,0,0.238261,0.924423
189,Q32P28,R,X,368,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,407,636,ENSG00000117385,ENST00000397054,CCDS53307.1,LEPRE1,0.53,,,,,5.06895,31,Q32P28_R368X,R,X,368,RX,R368X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
320,P78363,R,W,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,0,0,0,0.001,,0.01,,,132,75357,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.01,probably_damaging,0.998,deleterious,0,3.53734,18.05,P78363_R18W,R,W,18,RW,R18W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,,,,0.762927
322,Q12882,D,V,974,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,841891,1390,ENSG00000188641,ENST00000370192,CCDS30777.1,DPYD,0.95,probably_damaging,0.976,deleterious,0.01,3.72294,18.91,Q12882_D974V,D,V,974,DV,D974V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.517,-3.619,2.102,0.415,.,B,1.19,-0.48,1.323,,53.46,0.00349769,0,0.119278,0.656211
342,P53985,G,R,472,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,0.001,0.002,0,0.002,,,0.01,,42084,46,ENSG00000155380,ENST00000369626,CCDS858.1,SLC16A1,0.94,benign,0.085,tolerated,0.59,-1.22023,0.063,P53985_G472R,G,R,472,GR,G472R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-3.308,-3.451,0.143,,,,,,7.847,,88.6,0.010227,0,0.348761,0.955363
354,O14958,L,H,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,30459,37224,ENSG00000118729,ENST00000261448,CCDS884.1,CASQ2,0.42,probably_damaging,1,deleterious,0,4.15084,21.4,O14958_L167H,L,H,167,LH,L167H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.208,-4.641,3.433,0.007,E,b,0.72,-0.62,,,,0.00243062,0,0.0828893,0.583594
387,O43395,P,S,493,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,1061,164,ENSG00000117360,ENST00000324862,CCDS951.1,PRPF3,0.72,probably_damaging,0.999,deleterious,0,5.083,31,O43395_P493S,P,S,493,PS,P493S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.115,-3.121,2.006,,,,,,,,,0.000785399,0,0.0267837,0.860028
402,P06753,R,C,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,295,300,ENSG00000143549,ENST00000328159,,TPM3,0.53,benign,0.418,deleterious,0.02,3.68905,18.74,P06753_R131C,R,C,131,RC,R131C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
403,P06753,R,G,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,295,300,ENSG00000143549,ENST00000328159,,TPM3,0.53,possibly_damaging,0.436,deleterious,0.03,3.82854,19.44,P06753_R131G,R,G,131,RG,R131G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,,,,0.902988
409,P55265,F,S,1208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,426,184,ENSG00000160710,ENST00000292205,,ADAR,0.95,probably_damaging,0.997,deleterious,0,4.32065,22.7,P55265_F1208S,F,S,1208,FS,F1208S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,0.0057031,0,0.194487,0.896852
457,P02549,S,P,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,8177,705,ENSG00000163554,ENST00000368147,,SPTA1,0.11,probably_damaging,0.999,tolerated,0.1,2.45123,14.16,P02549_S261P,S,P,261,SP,S261P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-2.347,-4.214,1.867,,,,,,2.307,,82.47,0.000122719,0,0.00418497,0.965584
458,P02549,L,P,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,8175,707,ENSG00000163554,ENST00000368147,,SPTA1,0.11,probably_damaging,1,deleterious,0,2.85933,15.52,P02549_L260P,L,P,260,LP,L260P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.9,-4.215,3.315,,,,,,0.314,,21.21,7.97e-05,0,0.00271847,0.827838
564,Q99972,G,R,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,15986,1269,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.5,probably_damaging,0.998,deleterious,0,3.31032,17.13,Q99972_G252R,G,R,252,GR,G252R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.051,-3.739,2.688,,,,,,1.496,,31.55,0.00169346,0,0.0577504,0.803649
623,P19878,Q,X,100,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.01,,,,,,,,,12915,20580,ENSG00000116701,ENST00000367535,CCDS1356.1,NCF2,0.19,,,,,6.56397,37,P19878_Q100X,Q,X,100,QX,Q100X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00125614,0,0.0428369,0.904853
672,P82279,T,M,633,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,0,0,0,,,,,,4745,154,ENSG00000134376,ENST00000367399,CCDS53454.1,CRB1,0.49,probably_damaging,0.999,deleterious,0,2.72378,15.07,P82279_T633M,T,M,633,TM,T633M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,,,,0.953797
701,O14896,P,S,301,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,945,286,ENSG00000117595,ENST00000542854,CCDS55681.1,IRF6,0.81,possibly_damaging,0.873,deleterious,0.02,4.3242,22.7,O14896_P301S,P,S,301,PS,P301S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.000557165,0,0.0190005,0.994616
703,O14896,W,X,284,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.01,,,,,,,,,16336,1357,ENSG00000117595,ENST00000542854,CCDS55681.1,IRF6,0.76,,,,,7.62984,39,O14896_W284X,W,X,284,WX,W284X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00161767,0,0.0551659,0.881419
712,O75445,C,F,759,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,0.002,0,0.002,0.001,,0.003,,,176279,73172,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.49,probably_damaging,1,deleterious,0,4.38025,23.1,O75445_C759F,C,F,759,CF,C759F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.073,-3.942,2.869,,,,,,,,,,,,0.750145
804,Q96P20,G,R,571,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,6359,639,ENSG00000162711,ENST00000366496,CCDS44346.1,NLRP3,0.58,probably_damaging,0.972,deleterious,0.05,3.79653,19.28,Q96P20_G571R,G,R,571,GR,G571R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.931,-3.877,2.946,,,,,,0.255,,11.78,0.000868218,0,0.029608,0.761346
819,Q96SD1,Y,X,79,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,19558,16,ENSG00000152457,ENST00000396817,CCDS31150.1,DCLRE1C,0.14,,,,,8.60032,41,Q96SD1_Y79X,Y,X,79,YX,Y79X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00121252,0,0.0413494,0.89573
826,Q7RTS3,R,X,296,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,1478,448,ENSG00000168267,ENST00000376504,CCDS7143.1,PTF1A,0.9,,,,,7.14741,38,Q7RTS3_R296X,R,X,296,RX,R296X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
855,#N/A,R,X,453,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,155,864,ENSG00000258838,ENST00000515869,,RP11-123B3.6,0.43,,,,,7.26334,38,#N/A_R453X,R,X,453,RX,R453X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
871,Q96QU1,R,X,245,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,0,0,0,,,,,,483775,322835,ENSG00000150275,ENST00000437009,,PCDH15,0.13,,,,,6.18966,37,Q96QU1_R245X,R,X,245,RX,R245X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
957,P36894,M,T,470,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.11,,,,,,,,,166792,1744,ENSG00000107779,ENST00000224764,CCDS7378.1,BMPR1A,0.88,probably_damaging,1,deleterious,0,4.17961,21.6,P36894_M470T,M,T,470,MT,M470T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.71,-3.157,1.447,,,,,,,,,,,,0.864855
958,P00367,H,Y,507,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,40691,1779,ENSG00000148672,ENST00000277865,CCDS7382.1,GLUD1,0.91,benign,0.116,tolerated,0.16,2.03021,12.75,P00367_H507Y,H,Y,507,HY,H507Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.627,-2.944,1.317,0.153,H,A,0.38,-0.72,,,,0.00645665,0,0.220185,0.749814
959,P00367,S,P,501,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,40673,1797,ENSG00000148672,ENST00000277865,CCDS7382.1,GLUD1,0.9,probably_damaging,0.944,deleterious,0,4.38037,23.1,P00367_S501P,S,P,501,SP,S501P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.519,-3.336,1.817,0.28,.,B,0.25,-0.41,,,,0.00542715,0,0.185077,0.773221
966,P00367,R,C,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,5083,1804,ENSG00000148672,ENST00000277865,CCDS7382.1,GLUD1,0.49,probably_damaging,0.992,deleterious,0,5.21092,33,P00367_R274C,R,C,274,RC,R274C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.132,H,A,1.66,0.01,,,,0.00319324,0,0.108896,0.603077
999,Q6ZSM3,Q,X,215,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.01,,,,,,,,,96658,8600,ENSG00000152779,ENST00000341233,,SLC16A12,0.44,,,,,5.83263,36,Q6ZSM3_Q215X,Q,X,215,QX,Q215X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1005,O95970,C,R,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,359,633,ENSG00000108231,ENST00000542308,,LGI1,0.09,probably_damaging,0.999,deleterious,0,3.23298,16.84,O95970_C46R,C,R,46,CR,C46R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,,,,0.754167
1021,P54886,H,Y,784,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,49907,855,ENSG00000059573,ENST00000371224,CCDS7443.1,ALDH18A1,0.99,probably_damaging,0.939,deleterious,0.01,4.29082,22.4,P54886_H784Y,H,Y,784,HY,H784Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.627,-2.944,1.317,0.659,.,l,0.38,-0.95,,,,0.0178307,0,0.608064,0.787382
1038,Q96RR1,Y,C,508,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,2448,590,ENSG00000107815,ENST00000311916,CCDS7506.1,C10orf2,0.74,probably_damaging,0.987,deleterious,0,4.54992,24.6,Q96RR1_Y508C,Y,C,508,YC,Y508C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.24,-4.783,3.543,,,,,,0.574,,65.5,0.00318372,0,0.108571,0.807756
1053,P05093,Y,N,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,9,334,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.4,probably_damaging,0.949,deleterious,0,3.35823,17.31,P05093_Y201N,Y,N,201,YN,Y201N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,-1.57,-2.692,1.122,,,,,,15.711,15.711,72.24,0.00284622,0,0.0970621,0.975901
1087,P21802,D,A,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.11,,,,,,,,,1389,107,ENSG00000066468,ENST00000336553,,FGFR2,0.35,benign,0.118,deleterious,0.03,3.5069,17.92,P21802_D232A,D,A,232,DA,D232A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,,,,,,,,,,,,0.00155691,0,0.0530938,0.903598
1113,P04181,A,V,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,556,47,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.29,benign,0.395,deleterious,0.05,3.93995,20.1,P04181_A88V,A,V,88,AV,A88V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00265308,0,0.0904755,0.966032
1130,P10746,C,R,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,0,0,0.001,,,,,,1192,7911,ENSG00000188690,ENST00000368797,CCDS7648.1,UROS,0.28,benign,0.25,deleterious,0,1.38038,10.55,P10746_C73R,C,R,73,CR,C73R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.541,-3.83,2.289,,H,A,1.66,-0.74,3.183,,80.38,0.00748015,0.00520833,0.255088,0.533581
1131,P10746,A,V,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,1172,7931,ENSG00000188690,ENST00000368797,CCDS7648.1,UROS,0.25,possibly_damaging,0.688,deleterious,0,4.98832,29.2,P10746_A66V,A,V,66,AV,A66V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.088,-2.856,1.768,,H,A,0.44,-0.79,,,,0.00619398,0,0.211227,0.74536
1134,P10746,L,F,4,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,143,9340,ENSG00000188690,ENST00000368797,CCDS7648.1,UROS,0.02,probably_damaging,0.988,deleterious,0.01,4.22765,22,P10746_L4F,L,F,4,LF,L4F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.117,-3.394,2.277,,E,B,0.03,-0.98,,,,0.00362037,0,0.123462,0.642429
1231,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.46,0.01,,,,,,,,,31,521,,ENSR00000317289,,,,,,,,2.20155,13.32,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1233,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.46,0.01,,,,0.001,0.01,,,,77,567,,ENSR00000317289,,,,,,,,0.303145,5.642,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1237,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.46,0.03,,,,,,,,,172,1594,,ENSR00000317299,,,,,,,,2.04152,12.78,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1311,Q9Y345,Y,C,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,28462,26835,ENSG00000165970,ENST00000525748,CCDS7854.1,SLC6A5,0.62,probably_damaging,0.999,deleterious,0,4.54254,24.5,Q9Y345_Y491C,Y,C,491,YC,Y491C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,,,,,,,,,0.000464754,0,0.0158491,0.778038
1313,Q9Y345,Q,X,630,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,9293,16414,ENSG00000165970,ENST00000525748,CCDS7854.1,SLC6A5,0.79,,,,,9.9515,43,Q9Y345_Q630X,Q,X,630,QX,Q630X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00149342,0,0.0509288,0.904853
1322,P01225,C,G,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,1742,1134,ENSG00000131808,ENST00000533718,CCDS7868.1,FSHB,0.53,probably_damaging,1,deleterious,0,4.29901,22.5,P01225_C69G,C,G,69,CG,C69G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.194,-3.4,2.206,,S,B,0.75,-1.09,,,,0.00314275,0,0.107174,0.564791
1342,P19544,R,P,462,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,25579,2977,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.89,probably_damaging,1,deleterious,0,5.31872,34,P19544_R462P,R,P,462,RP,R462P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,,,,0.914096
1346,P19544,H,Y,445,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,24926,3630,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.86,probably_damaging,0.998,deleterious,0,5.22721,33,P19544_H445Y,H,Y,445,HY,H445Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.0622103,0.25,2.1215,0.955002
1369,P15918,Q,P,981,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,8221,672,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.94,possibly_damaging,0.544,deleterious,0,3.35777,17.31,P15918_Q981P,Q,P,981,QP,Q981P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.119,-3.53,2.411,,,,,,,,,0.00281235,0,0.0959071,0.787619
1574,P50416,C,W,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.08,,,,,,,,,5899,7626,ENSG00000110090,ENST00000538994,,CPT1A,0.72,probably_damaging,1,deleterious,0,1.86775,12.2,P50416_C56W,C,W,56,CW,C56W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,0.000535618,0,0.0182657,0.967687
1652,Q9ULV1,M,V,342,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,0.001,0.002,,,,3660,5,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.64,possibly_damaging,0.46,deleterious,0.02,2.57908,14.58,Q9ULV1_M342V,M,V,342,MV,M342V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.918,-2.825,0.907,,,,,,3.446,,50.47,0.00141868,0,0.0483797,0.961852
1683,P14679,L,M,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,706,22013,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.41,probably_damaging,0.995,deleterious,0.04,3.88774,19.76,P14679_L216M,L,M,216,LM,L216M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,-1.079,-2.332,1.253,,,,,,6.032,6.032,33.46,0.000806231,0,0.0274941,0.947966
1684,P14679,W,X,236,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,767,21952,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.45,,,,,10.3781,43,P14679_W236X,W,X,236,WX,W236X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000540849,0,0.0184441,0.956807
1687,P14679,N,T,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,50446,67843,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.7,probably_damaging,0.996,deleterious,0,4.42336,23.5,P14679_N371T,N,T,371,NT,N371T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,-1.165,-3.473,2.308,,,,,,3.167,,52.36,0.000687291,0,0.023438,0.859624
1688,P14679,T,K,373,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,0.001,0,0.001,,,,,,50452,67837,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.71,benign,0.012,deleterious,0.01,3.24586,16.88,P14679_T373K,T,K,373,TK,T373K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.371,-2.796,1.425,,,,,,24.722,24.722,89.22,0.00206127,0,0.0702935,0.96773
1709,Q9Y210,N,S,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,0,0.001,0,0,,,,,451,165,ENSG00000137672,ENST00000532133,,TRPC6,0.17,probably_damaging,0.971,deleterious,0,4.47511,23.9,Q9Y210_N143S,N,S,143,NS,N143S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.162,-2.713,1.551,,,,,,,,,0.000389486,0,0.0132823,0.918971
1710,Q9Y210,P,Q,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,544,72,ENSG00000137672,ENST00000532133,,TRPC6,0.13,probably_damaging,0.965,deleterious,0,4.26823,22.3,Q9Y210_P112Q,P,Q,112,PQ,P112Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.115,-3.635,2.52,,,,,,,,,0.000507228,0,0.0172975,0.828566
1743,P30154,G,D,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,0.009,0.003,0.012,0.01,,0.01,,0.02,1221,3886,ENSG00000137713,ENST00000527614,CCDS8349.1,PPP2R1B,0.15,benign,0,tolerated,0.49,0.443517,6.409,P30154_G90D,G,D,90,GD,G90D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-2.708,-2.252,-0.456,,,,,,33.929,33.929,90.68,0.00226676,0,0.0773013,1.02133
1750,O14521,R,X,22,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,950,7296,ENSG00000204370,ENST00000528182,,SDHD,0.17,,,,,1.8571,12.17,O14521_R22X,R,X,22,RX,R22X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00225654,0,0.0769528,0.959768
1798,P04234,R,X,68,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,491,1353,ENSG00000167286,ENST00000392884,CCDS41724.1,CD3D,0.54,,,,,3.91945,19.94,P04234_R68X,R,X,68,RX,R68X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1844,O75443,R,H,2021,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.09,,,,,,,,,85228,2913,ENSG00000109927,ENST00000264037,CCDS8434.1,TECTA,0.94,probably_damaging,0.918,deleterious,0,5.33798,34,O75443_R2021H,R,H,2021,RH,R2021H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.000211888,0,0.00722582,0.825824
1866,P48048,N,K,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,2606,103,ENSG00000151704,ENST00000324036,CCDS8477.1,KCNJ1,0.28,probably_damaging,0.946,tolerated,0.18,2.7021,15,P48048_N105K,N,K,105,NK,N105K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.00313787,0,0.107008,0.958815
1867,P48048,D,H,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,2556,86,ENSG00000151704,ENST00000324036,CCDS8477.1,KCNJ1,0.24,probably_damaging,1,deleterious,0,4.35956,23,P48048_D89H,D,H,89,DH,D89H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,,,,,,,,,,,,0.00237272,0,0.0809148,0.97353
1977,P01116,G,R,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,23458,17915,ENSG00000133703,ENST00000256078,CCDS8703.1,KRAS,0.32,probably_damaging,1,deleterious,0,5.10002,31,P01116_G60R,G,R,60,GR,G60R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.319,-3.794,2.475,0.655,.,?,0.91,1.18,1.996,,92.06,0.000915245,0,0.0312117,0.843746
1978,P01116,G,S,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,23458,17915,ENSG00000133703,ENST00000256078,CCDS8703.1,KRAS,0.32,probably_damaging,1,deleterious,0,5.63138,36,P01116_G60S,G,S,60,GS,G60S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.319,-3.094,1.775,0.655,.,?,0.02,1.18,2.978,,92.06,0.000915245,0,0.0312117,0.96983
2003,Q5S007,I,T,2020,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,41938,28878,ENSG00000188906,ENST00000298910,CCDS31774.1,LRRK2,0.8,probably_damaging,1,deleterious,0,4.56253,24.7,Q5S007_I2020T,I,T,2020,IT,I2020T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.313,-3.198,1.885,,,,,,,,,,,,0.848707
2159,O15528,R,G,389,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,1538,11,ENSG00000111012,ENST00000228606,CCDS8954.1,CYP27B1,0.77,probably_damaging,0.999,deleterious,0,3.3721,17.37,O15528_R389G,R,G,389,RG,R389G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.184,-3.175,1.991,,,,,,,,,0.00117847,0,0.0401883,0.739761
2160,O15528,P,S,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,1517,32,ENSG00000111012,ENST00000228606,CCDS8954.1,CYP27B1,0.75,probably_damaging,0.999,deleterious,0,4.4688,23.9,O15528_P382S,P,S,382,PS,P382S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.966,-3.203,2.237,,,,,,,,,0.00141702,0,0.0483232,0.750275
2166,P15586,Q,X,334,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,167,5897,ENSG00000135677,ENST00000418919,,GNS,0.67,,,,,5.39713,34,P15586_Q334X,Q,X,334,QX,Q334X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
2191,Q8NDX2,A,V,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,39005,23880,ENSG00000179520,ENST00000392989,CCDS44957.1,SLC17A8,0.39,probably_damaging,0.957,deleterious,0,5.1816,32,Q8NDX2_A211V,A,V,211,AV,A211V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,0.000774807,0,0.0264225,0.912316
2230,P00439,R,Q,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,0,0,0,,,,,,50588,11353,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.35,probably_damaging,1,deleterious,0,4.9075,28.3,P00439_R158Q,R,Q,158,RQ,R158Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.555,-3.389,1.834,0.209,H,A,0.56,-0.51,1.847,,68.14,0.000422367,0,0.0144036,0.818623
2262,P16615,Y,X,867,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,115,76,ENSG00000174437,ENST00000395494,,ATP2A2,0.85,,,,,10.9244,44,P16615_Y867X,Y,X,867,YX,Y867X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00229412,0,0.0782342,0.953982
2288,Q99593,G,R,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,2069,6952,ENSG00000089225,ENST00000405440,CCDS9173.1,TBX5,0.15,probably_damaging,0.999,deleterious,0,5.06721,31,Q99593_G80R,G,R,80,GR,G80R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.115,.,g,0.91,-0.29,,,,0.000562657,0,0.0191878,0.542903
2289,Q99593,E,X,69,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,2036,6985,ENSG00000089225,ENST00000405440,CCDS9173.1,TBX5,0.13,,,,,9.50356,42,Q99593_E69X,E,X,69,EX,E69X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00184989,0.00222717,0.063085,0.96137
2324,Q14232,N,Y,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,7656,2156,ENSG00000111361,ENST00000424014,CCDS31924.1,EIF2B1,0.68,probably_damaging,1,deleterious,0,4.88666,28.1,Q14232_N208Y,N,Y,208,NY,N208Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-1.26,-3.898,2.638,0.081,E,B,0.82,-0.96,,,,0.00373222,0,0.127276,0.478946
2387,Q9Y619,R,X,179,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,14218,3,ENSG00000102743,ENST00000338625,CCDS9373.1,SLC25A15,0.59,,,,,5.13915,32,Q9Y619_R179X,R,X,179,RX,R179X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00196839,0,0.0671262,0.959275
2443,P35670,G,R,691,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,1718,1834,ENSG00000123191,ENST00000418097,,ATP7B,0.49,probably_damaging,1,deleterious,0,5.13745,32,P35670_G691R,G,R,691,GR,G691R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.28,-4.192,2.912,,,,,,5.7,,54.68,0.000408267,0,0.0139227,0.822152
2444,P35670,M,R,645,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,0,0,0,,,,,,67,3485,ENSG00000123191,ENST00000418097,,ATP7B,0.46,benign,0.005,tolerated,0.74,0.135778,4.73,P35670_M645R,M,R,645,MR,M645R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-3.148,-2.384,-0.764,,,,,,26.537,26.537,54.2,0.000589789,0,0.020113,1.01797
2453,P24530,A,G,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,15268,8054,ENSG00000136160,ENST00000446573,CCDS45059.1,EDNRB,0.42,benign,0.324,deleterious,0.03,3.78113,19.2,P24530_A183G,A,G,183,AG,A183G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.368,-3.007,1.639,,,,,,3.071,,71.49,0.00221772,0,0.0756288,1.06247
2491,P00491,R,P,234,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,0,0,0,,,,,,658,48,ENSG00000198805,ENST00000361505,CCDS9552.1,PNP,0.81,probably_damaging,0.989,deleterious,0.01,4.84812,27.6,P00491_R234P,R,P,234,RP,R234P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.832,-3.246,1.414,0.218,.,B,0.68,-0.62,23.624,23.624,73.01,0.00615281,0,0.209823,0.831055
2601,Q10469,N,D,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,1261,1261,ENSG00000168282,ENST00000305386,CCDS9690.1,MGAT2,0.71,possibly_damaging,0.863,deleterious,0,4.49167,24.1,Q10469_N318D,N,D,318,ND,N318D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.232,-2.982,1.75,,,,,,3.392,,91.05,0.00221234,0,0.0754453,0.973313
2658,Q96NR8,G,X,127,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.01,,,,,,,,,3613,8365,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.4,,,,,7.1131,38,Q96NR8_G127X,G,X,127,GX,G127X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.00166828,0,0.0568919,0.892946
2670,P49768,M,L,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,5834,18,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.31,probably_damaging,0.94,deleterious,0.01,4.49189,24.1,P49768_M142L,M,L,142,ML,M142L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,,,,,,,,,,,,0.00254318,0,0.0867277,0.984799
2674,P49768,A,E,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,25003,24327,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.52,probably_damaging,0.91,deleterious,0,4.58423,24.9,P49768_A242E,A,E,242,AE,A242E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,,,,,,,,,,,,0.00144586,0,0.0493068,0.904196
2692,P61916,C,R,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,8760,72,ENSG00000119655,ENST00000555592,,NPC2,0.82,probably_damaging,1,deleterious,0,4.10799,21.2,P61916_C99R,C,R,99,CR,C99R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.073,-4.033,2.96,0.324,S,B,1.66,1.18,,,,0.00490153,0,0.167152,0.675987
2732,P16473,C,R,600,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,26559,2447,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.79,probably_damaging,0.999,deleterious,0,3.36016,17.32,P16473_C600R,C,R,600,CR,C600R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-0.851,-4.261,3.41,,,,,,1.622,,39.27,0.000958017,0,0.0326703,0.786959
2736,P16473,P,S,639,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,26442,2330,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.84,probably_damaging,1,deleterious,0,3.97253,20.3,P16473_P639S,P,S,639,PS,P639S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.653,-3.536,2.883,,,,,,1.104,,26.18,0.000295697,0,0.0100839,0.84716
2783,Q9UHW9,R,C,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,2427,120,ENSG00000140199,ENST00000560611,,SLC12A6,0.18,probably_damaging,0.999,deleterious,0,4.67089,25.8,Q9UHW9_R207C,R,C,207,RC,R207C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.000128865,0,0.00439458,0.77808
2790,Q7Z699,R,X,3,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,46229,26954,ENSG00000166068,ENST00000561317,,SPRED1,0.02,,,,,5.94308,36,Q7Z699_R3X,R,X,3,RX,R3X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2845,P35555,C,Y,1221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,160286,54660,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.43,probably_damaging,0.99,deleterious,0,5.13933,32,P35555_C1221Y,C,Y,1221,CY,C1221Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,,,,0.755919
2854,P35555,K,R,1043,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,157262,57684,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.36,benign,0.027,tolerated,0.55,1.94289,12.45,P35555_K1043R,K,R,1043,KR,K1043R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.553,-2.126,0.573,,,,,,23.751,23.751,69.04,,,,0.985586
2865,P11511,R,C,435,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,4971,36,ENSG00000137869,ENST00000559878,CCDS10139.1,CYP19A1,0.86,probably_damaging,1,deleterious,0,5.16947,32,P11511_R435C,R,C,435,RC,R435C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.013,T,a,1.66,-1.43,,,,0.00279231,0,0.0952234,0.4685
2912,P06865,V,M,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,9247,75,ENSG00000213614,ENST00000566304,,HEXA,0.39,probably_damaging,0.998,deleterious,0,5.27583,33,P06865_V211M,V,M,211,VM,V211M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00114847,0,0.0391653,0.935731
2968,Q9NVI1,R,Q,1051,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,7460,673,ENSG00000140525,ENST00000561894,,FANCI,0.96,probably_damaging,0.998,deleterious,0,5.54914,35,Q9NVI1_R1051Q,R,Q,1051,RQ,R1051Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000868492,0,0.0296174,0.995654
3260,Q86YC2,R,X,753,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,8039,5826,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.63,,,,,6.54407,37,Q86YC2_R753X,R,X,753,RX,R753X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000961251,0,0.0327806,0.908362
3296,Q93100,A,P,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,3281,8695,ENSG00000102893,ENST00000299167,,PHKB,0.11,probably_damaging,0.989,deleterious,0,4.89411,28.1,Q93100_A118P,A,P,118,AP,A118P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.453,-4.091,2.638,,,,,,2.072,,87.1,0.000612512,0,0.0208879,0.879159
3385,#N/A,R,H,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,0,0,0,,,,,,39583,25801,ENSG00000127688,ENST00000248272,CCDS10935.1,GAN,0.23,probably_damaging,0.986,deleterious,0,4.59427,25,#N/A_R138H,R,H,138,RH,R138H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
3443,P43034,S,P,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.46,0.05,,,,,,,,,1,11607,ENSG00000007168,ENST00000574468,,PAFAH1B1,0,possibly_damaging,0.545,deleterious,0,4.82805,27.4,P43034_S1P,S,P,1,SP,S1P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.000840308,0,0.0286562,0.992445
3541,Q2NKJ3,A,V,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,5638,803,ENSG00000178971,ENST00000315684,CCDS42259.1,CTC1,0.19,benign,0.277,deleterious,0.03,3.41202,17.53,Q2NKJ3_A227V,A,V,227,AV,A227V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.013,-2.896,1.883,,,,,,,,,0.000572564,0,0.0195256,0.902146
3542,Q9UKX2,E,K,706,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,14281,95,ENSG00000125414,ENST00000245503,CCDS11156.1,MYH2,0.36,benign,0.298,deleterious,0.01,4.8673,27.8,Q9UKX2_E706K,E,K,706,EK,E706K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.404,-2.689,1.285,0.251,H,A,1.3,0,,,,,,,0.832268
3597,P21359,R,S,1412,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,25376,3389,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.5,possibly_damaging,0.435,deleterious,0,3.87211,19.68,P21359_R1412S,R,S,1412,RS,R1412S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.582,-3.067,1.485,,,,,,,,,,,,0.822981
3622,P13645,L,S,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,492,3987,ENSG00000186395,ENST00000269576,CCDS11377.1,KRT10,0.28,probably_damaging,0.956,deleterious,0,4.38659,23.2,P13645_L161S,L,S,161,LS,L161S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.166,-3.507,2.341,,,,,,2.769,,80.82,0.000602404,0,0.0205432,0.854441
3623,P13645,Y,D,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,488,3991,ENSG00000186395,ENST00000269576,CCDS11377.1,KRT10,0.27,probably_damaging,0.998,deleterious,0,4.34812,22.9,P13645_Y160D,Y,D,160,YD,Y160D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.023,-3.774,2.751,,,,,,,,,0.000314232,0,0.010716,0.77736
3789,P05106,S,P,778,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,13445,1648,ENSG00000259207,ENST00000559488,,ITGB3,0.99,probably_damaging,0.983,deleterious,0.04,4.89985,28.2,P05106_S778P,S,P,778,SP,S778P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.239,-3.432,2.193,,,,,,,,,0.0322767,0,1.1007,0.792077
4013,Q9Y4W6,N,T,432,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,24225,24084,ENSG00000141385,ENST00000269143,CCDS11859.1,AFG3L2,0.54,probably_damaging,1,deleterious,0,3.16462,16.59,Q9Y4W6_N432T,N,T,432,NT,N432T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,-1.26,-2.932,1.672,0.2,H,a,0.39,-0.33,,,,0.000184252,0,0.00628337,0.778951
4079,P02766,I,L,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,0,0,0,,,,,,3304,669,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.6,benign,0.002,tolerated,0.26,0.774103,8.089,P02766_I88L,I,L,88,IL,I88L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,-2.208,-2.459,0.251,0.361,E,B,0.07,-0.44,32.187,32.187,87.76,0.0102791,0,0.350539,1.00303
4080,P02766,Y,H,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,3307,666,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.61,probably_damaging,0.998,deleterious,0,3.37387,17.38,P02766_Y89H,Y,H,89,YH,Y89H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-0.85,-2.57,1.72,,E,B,0.38,-0.55,8.911,8.911,85.03,0.00397924,0,0.1357,0.8291
4081,P02766,V,A,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,3314,659,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.62,probably_damaging,0.913,deleterious,0,3.78996,19.24,P02766_V91A,V,A,91,VA,V91A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.622,-2.863,1.241,,E,B,0.44,-0.75,8.079,8.079,72.79,0.0104665,0,0.356929,0.780155
4107,Q13485,Y,X,412,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,20196,17925,ENSG00000141646,ENST00000342988,CCDS11950.1,SMAD4,0.75,,,,,9.5005,42,Q13485_Y412X,Y,X,412,YX,Y412X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00197217,0,0.0672552,0.953488
4144,P32245,V,M,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,567,871,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.15,probably_damaging,0.979,deleterious,0,3.85089,19.56,P32245_V50M,V,M,50,VM,V50M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.376,-3.841,2.465,,,,,,2.514,,68.07,0.00273299,0,0.0932006,0.875769
4149,Q9Y6Q6,R,G,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,33013,29339,ENSG00000141655,ENST00000269485,CCDS11980.1,TNFRSF11A,0.28,benign,0.119,deleterious,0.01,2.3453,13.8,Q9Y6Q6_R170G,R,G,170,RG,R170G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-2.042,-3.314,1.272,,,,,,3.48,,79.71,0.00120778,0,0.0411876,0.92496
4197,P06213,W,S,1227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,174438,7308,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.89,probably_damaging,1,deleterious,0,4.32679,22.7,P06213_W1227S,W,S,1227,WS,W1227S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.198,-3.613,2.415,0.103,H,A,0.74,-0.91,,,,0.0012112,0,0.0413045,0.524008
4290,O00555,R,X,1277,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,229103,69809,ENSG00000141837,ENST00000573710,,CACNA1A,0.51,,,,,11.5489,45,O00555_R1277X,R,X,1277,RX,R1277X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,9.86e-05,0,0.00336209,0.984992
4507,Q8WX94,R,W,665,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,0,0,0,,,,,,9410,14581,ENSG00000167634,ENST00000448121,CCDS12912.1,NLRP7,0.66,probably_damaging,0.959,deleterious,0,2.05708,12.84,Q8WX94_R665W,R,W,665,RW,R665W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
4547,P04114,R,X,2522,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,34770,7875,ENSG00000084674,ENST00000233242,CCDS1703.1,APOB,0.55,,,,,14.3858,48,P04114_R2522X,R,X,2522,RX,R2522X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4561,P55084,D,G,241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,18754,594,ENSG00000138029,ENST00000545822,,HADHB,0.53,benign,0.394,deleterious,0,3.58633,18.27,P55084_D241G,D,G,241,DG,D241G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.0012928,0,0.0440871,0.90711
4590,Q9UI10,C,R,464,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,504,180,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.89,benign,0.046,tolerated,0.32,0.290585,5.573,Q9UI10_C464R,C,R,464,CR,C464R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00709405,0,0.241922,0.923942
4753,Q9UNP4,R,X,260,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.01,0,0,0,,,,,,5035,5393,ENSG00000115525,ENST00000393805,,ST3GAL5,0.67,,,,,4.43484,23.6,Q9UNP4_R260X,R,X,260,RX,R260X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4840,O60315,R,X,695,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,30923,24,ENSG00000169554,ENST00000427902,,ZEB2,0.99,,,,,4.44112,23.6,O60315_R695X,R,X,695,RX,R695X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000363026,0,0.0123799,0.977351
4854,Q99250,R,Q,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,748,1332,ENSG00000136531,ENST00000283256,CCDS33314.1,SCN2A,0.11,probably_damaging,0.998,deleterious,0,4.80026,27.1,Q99250_R223Q,R,Q,223,RQ,R223Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,,,,,,,,,,,,0.854838
4891,Q15858,Y,X,193,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,13218,8431,ENSG00000169432,ENST00000452182,,SCN9A,0.36,,,,,3.26903,16.97,Q15858_Y193X,Y,X,193,YX,Y193X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
4917,P15882,G,S,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,21942,12087,ENSG00000128656,ENST00000409156,CCDS46454.1,CHN1,0.47,probably_damaging,0.981,deleterious,0,5.55137,35,P15882_G202S,G,S,202,GS,G202S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00315807,0.00389105,0.107697,0.96591
4918,P15882,A,V,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,21928,12101,ENSG00000128656,ENST00000409156,CCDS46454.1,CHN1,0.45,probably_damaging,0.976,deleterious,0.01,5.42805,35,P15882_A197V,A,V,197,AV,A197V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00246676,0,0.0841214,0.975319
4923,P35453,R,W,306,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.09,,,,,,,,,1723,1325,ENSG00000128714,ENST00000392539,CCDS2264.2,HOXD13,0.89,probably_damaging,0.995,deleterious,0,3.32185,17.17,P35453_R306W,R,W,306,RW,R306W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.00234064,0,0.0798206,0.785283
4939,P02461,G,S,738,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,25187,13187,ENSG00000168542,ENST00000317840,,COL3A1,0.63,,,deleterious,0,4.56887,24.8,P02461_G738S,G,S,738,GS,G738S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,,,,,0,,,,1.8e-05,0,0.000612975,0.696146
4940,P02461,G,R,786,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,27181,11193,ENSG00000168542,ENST00000317840,,COL3A1,0.68,,,deleterious,0,3.14333,16.51,P02461_G786R,G,R,786,GR,G786R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,0,,,,1.67e-05,0,0.000569279,0.638001
4949,P02461,G,E,870,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,168,3914,ENSG00000168542,ENST00000317840,,COL3A1,0.75,,,deleterious,0,4.2598,22.2,P02461_G870E,G,E,870,GE,G870E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.082,-3.354,2.272,,,,,0,2.78,,53.27,1.4e-05,0,0.000475875,0.659695
4954,Q9NP59,G,D,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,16702,3607,ENSG00000138449,ENST00000261024,CCDS2299.1,SLC40A1,0.47,benign,0.301,tolerated,0.23,1.87042,12.21,Q9NP59_G267D,G,D,267,GD,G267D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.834,-2.5,0.666,,,,,,35.712,35.712,90.02,0.00270836,0.00328947,0.0923606,0.999471
5001,P07315,T,P,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,151,1543,ENSG00000163254,ENST00000282141,CCDS2379.1,CRYGC,0.03,probably_damaging,0.981,tolerated,0.07,2.98825,15.96,P07315_T5P,T,P,5,TP,T5P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.644,-3.768,2.124,0.094,E,B,0.3,-0.68,1.321,,89.08,0.0065398,0.00591716,0.22302,0.741759
5125,P12111,G,E,1072,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,29667,42377,ENSG00000163359,ENST00000472056,CCDS33410.2,COL6A3,0.42,probably_damaging,0.999,,,3.24684,16.89,P12111_G1072E,G,E,1072,GE,G1072E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,,,,0.947149
5273,Q9BZ23,R,X,190,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,540,96,ENSG00000125779,ENST00000497424,CCDS13072.1,PANK2,0.68,,,,,6.89114,38,Q9BZ23_R190X,R,X,190,RX,R190X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000764267,0,0.0260631,0.977351
5345,Q9Y3Z3,Q,X,149,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,16616,22745,ENSG00000101347,ENST00000262878,CCDS13288.1,SAMHD1,0.24,,,,,7.61879,39,Q9Y3Z3_Q149X,Q,X,149,QX,Q149X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000953385,0,0.0325124,0.912628
5346,Q9Y3Z3,R,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,16604,22757,ENSG00000101347,ENST00000262878,CCDS13288.1,SAMHD1,0.23,,,,,7.16033,38,Q9Y3Z3_R145X,R,X,145,RX,R145X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00144849,0,0.0493965,0.900587
5381,P10619,M,T,424,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,13,992,ENSG00000064601,ENST00000372484,CCDS13385.2,CTSA,0.85,possibly_damaging,0.834,deleterious,0,4.43963,23.6,P10619_M424T,M,T,424,MT,M424T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.00530269,0,0.180833,0.950878
5391,Q9Y6D5,E,K,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,0.004,0.01,0.01,,,31687,83117,ENSG00000124198,ENST00000371917,CCDS13411.1,ARFGEF2,0.12,possibly_damaging,0.454,tolerated,0.11,4.75349,26.6,Q9Y6D5_E209K,E,K,209,EK,E209K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.603,-3.002,1.399,,,,,,2.991,,87.34,,,,0.920194
5452,P05067,V,G,693,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,6201,10270,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.93,probably_damaging,1,deleterious,0,4.53187,24.4,P05067_V693G,V,G,693,VG,V693G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,,,,,,,,,,,,0.0038879,0,0.132586,0.93939
5455,P05067,I,V,692,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,6197,10274,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.93,probably_damaging,0.936,deleterious,0,4.45271,23.7,P05067_I692V,I,V,692,IV,I692V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.00394738,0,0.134614,0.978876
5456,P05067,V,M,691,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,6194,10277,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.93,probably_damaging,0.992,deleterious,0,4.22132,21.9,P05067_V691M,V,M,691,VM,V691M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00392519,0,0.133857,0.978315
5473,P00441,L,V,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,475,651,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.25,probably_damaging,0.993,deleterious,0.01,2.76361,15.2,P00441_L39V,L,V,39,LV,L39V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.039,-2.671,1.632,0.088,.,B,0.11,-0.37,,,,0.00411989,0,0.140497,0.80041
5474,P00441,G,S,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,466,642,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.27,probably_damaging,0.994,deleterious,0.04,3.7992,19.29,P00441_G42S,G,S,42,GS,G42S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,0.264,E,g,0.02,-0.22,,,,0.00480085,0.00892857,0.163719,0.654192
5475,P00441,G,D,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,465,641,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.27,possibly_damaging,0.777,deleterious,0,3.6031,18.34,P00441_G42D,G,D,42,GD,G42D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,0.264,E,g,0.46,-0.22,,,,0.00480085,0.00892857,0.163719,0.621532
5476,P00441,F,C,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,453,629,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.3,probably_damaging,0.999,deleterious,0,3.24317,16.87,P00441_F46C,F,C,46,FC,F46C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.149,-4.679,3.53,,E,b,0.12,-1.45,,,,0.00230436,0,0.0785832,0.547838
5477,P00441,H,R,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,450,626,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.31,probably_damaging,0.971,deleterious,0,3.25209,16.91,P00441_H47R,H,R,47,HR,H47R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.21,-3.3,2.09,,E,B,1.03,-1.29,,,,0.00146383,0,0.0499196,0.56626
5482,P00441,D,A,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,0.001,0,0.001,0.001,,,,0.003,7581,52,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.59,benign,0.003,tolerated,0.11,1.8233,12.06,P00441_D91A,D,A,91,DA,D91A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-1.911,-3.064,1.153,0.439,.,b,0.75,0.71,7.283,,92.86,0.0102175,0.015873,0.348436,0.921641
5485,P00441,G,A,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,7590,43,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.61,probably_damaging,0.914,deleterious,0.01,4.00765,20.5,P00441_G94A,G,A,94,GA,G94A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-1.3,-2.923,1.623,0.034,S,l,0.29,0.35,3.392,,70.78,0.00422892,0,0.144215,0.87561
5486,P00441,D,N,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,7598,35,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.63,benign,0.001,tolerated,0.21,2.00996,12.68,P00441_D97N,D,N,97,DN,D97N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-2.367,-2.442,0.075,0.768,E,B,0.14,0.41,28.793,28.793,92.86,0.0101165,0,0.344992,1.02569
5691,Q15049,S,L,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,4328,7027,ENSG00000100427,ENST00000311597,CCDS14083.1,MLC1,0.74,probably_damaging,0.992,deleterious,0,2.61229,14.7,Q15049_S280L,S,L,280,SL,S280L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.056,-3.294,2.238,,,,,,5.145,,78.78,0.00288145,0,0.0982632,0.850761
5751,Q8NBK3,R,X,195,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,90881,14256,ENSG00000144455,ENST00000458465,,SUMF1,0.81,,,,,5.69886,36,Q8NBK3_R195X,R,X,195,RX,R195X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00495492,0,0.168973,0.936135
5795,P40337,V,L,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,4015,3585,ENSG00000134086,ENST00000256474,CCDS2597.1,VHL,0.61,possibly_damaging,0.883,deleterious,0.01,4.34339,22.8,P40337_V130L,V,L,130,VL,V130L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.201,-2.46,1.259,,E,B,0.11,-1,,,,0.00938467,0,0.320037,0.719894
5796,P40337,L,F,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,4032,3568,ENSG00000134086,ENST00000256474,CCDS2597.1,VHL,0.63,possibly_damaging,0.837,deleterious,0.02,3.78382,19.21,P40337_L135F,L,F,135,LF,L135F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.379,-2.274,0.895,0.299,.,B,0.03,-0.56,8.867,8.867,46.48,0.00994396,0,0.339109,0.811208
5811,P37231,F,L,388,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,37342,107,ENSG00000132170,ENST00000287820,CCDS2609.1,PPARG,0.77,probably_damaging,0.97,deleterious,0.01,4.30745,22.6,P37231_F388L,F,L,388,FL,F388L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.351,-2.644,1.293,0.036,S,A,0.03,-0.65,,,,0.00204083,0,0.0695965,0.805632
5858,P37173,P,L,427,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,67529,20005,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.75,probably_damaging,1,deleterious,0,5.47163,35,P37173_P427L,P,L,427,PL,P427L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,,,,0.76981
5861,P37173,R,H,460,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,67628,19906,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.81,probably_damaging,1,deleterious,0,4.62206,25.3,P37173_R460H,R,H,460,RH,R460H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,,,,0.778646
5883,P16278,R,C,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,0,0,0,,,,,,14495,134,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.26,probably_damaging,0.97,deleterious,0,4.28894,22.4,P16278_R171C,R,C,171,RC,R171C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00203608,0,0.0694344,0.937925
5932,Q14524,T,I,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,0,0,0,0.001,,,,0.001,19530,242,ENSG00000183873,ENST00000449557,,SCN5A,0.11,probably_damaging,0.99,deleterious,0.03,4.53334,24.5,Q14524_T220I,T,I,220,TI,T220I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.557,-3.521,1.964,,,,,,2.562,,74.72,,,,0.867917
5942,P51681,C,X,101,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,0.001,0.001,0.001,0,,,,,535,757,ENSG00000160791,ENST00000292303,CCDS2739.1,CCR5,0.29,,,,,2.21336,13.36,P51681_C101X,C,X,101,CX,C101X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000678997,0,0.0231552,0.980504
6028,O75369,R,X,649,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,29975,62314,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.25,,,,,6.43213,37,O75369_R649X,R,X,649,RX,R649X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000195621,0,0.00667109,0.977351
6065,P28069,P,S,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,16408,158,ENSG00000064835,ENST00000561167,,POU1F1,0.76,possibly_damaging,0.585,deleterious,0,5.01081,29.5,P28069_P164S,P,S,164,PS,P164S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.00333134,0,0.113606,0.967518
6071,P28069,A,P,83,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,14260,2306,ENSG00000064835,ENST00000561167,,POU1F1,0.38,possibly_damaging,0.876,deleterious,0.01,5.49633,35,P28069_A83P,A,P,83,AP,A83P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00434481,0.00480769,0.148167,0.968871
6093,P36551,H,D,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,4866,880,ENSG00000080819,ENST00000264193,CCDS2932.1,CPOX,0.65,probably_damaging,0.994,deleterious,0,4.72981,26.4,P36551_H295D,H,D,295,HD,H295D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,-1.483,-3.46,1.977,,,,,,0.921,,59.91,,,,0.829785
6147,P51149,L,F,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,11217,1019,ENSG00000075785,ENST00000265062,CCDS3052.1,RAB7A,0.62,possibly_damaging,0.711,deleterious,0,3.91133,19.89,P51149_L129F,L,F,129,LF,L129F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.431,-3.394,1.963,0.591,S,B,0.03,0,2.708,,60.39,0.00838887,0,0.286078,0.75014
6326,Q13144,R,C,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,300,257,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.16,possibly_damaging,0.542,tolerated,0.05,3.61455,18.39,Q13144_R113C,R,C,113,RC,R113C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.677,-4.769,3.092,,,,,,1.28,,92.51,0.00207432,0,0.0707387,0.829814
6327,Q13144,R,H,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,0,0,0.001,0.001,,0.003,,,301,258,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.16,benign,0.004,tolerated,0.24,2.22239,13.39,Q13144_R113H,R,H,113,RH,R113H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.677,-2.551,0.874,,,,,,32.752,32.752,92.51,0.00207432,0,0.0707387,0.987465
6333,Q13144,R,G,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,31,36,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.37,possibly_damaging,0.865,deleterious,0.03,4.36135,23,Q13144_R269G,R,G,269,RG,R269G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.402,-3.198,1.796,,,,,,2.362,,54.09,0.00100974,0,0.0344342,0.899087
6334,Q13144,R,Q,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,30,35,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.37,possibly_damaging,0.787,tolerated,0.1,5.46898,35,Q13144_R269Q,R,Q,269,RQ,R269Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.402,-3.289,1.887,,,,,,2.88,,54.09,0.00100974,0,0.0344342,0.933835
6335,Q13144,R,L,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,30,35,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.37,possibly_damaging,0.546,deleterious,0.05,5.01371,29.5,Q13144_R269L,R,L,269,RL,R269L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.402,-3.198,1.796,,,,,,2.291,,54.09,0.00100974,0,0.0344342,0.918298
6366,P22914,G,V,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,955,967,ENSG00000213139,ENST00000307944,CCDS3275.1,CRYGS,0.1,probably_damaging,0.999,deleterious,0,5.0615,31,P22914_G18V,G,V,18,GV,G18V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.763,-3.609,2.846,0.563,S,p,0.73,-0.37,,,,0.0017311,0,0.059034,0.66012
6388,Q9Y5I7,L,P,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,0,0,0,,,,,,16648,163,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.48,probably_damaging,0.978,deleterious,0,4.20653,21.8,Q9Y5I7_L145P,L,P,145,LP,L145P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.15,-3.975,2.825,,,,,,0.603,,40.66,0.00653533,0,0.222868,0.741628
6389,Q9Y5I7,R,X,149,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,16659,152,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.49,,,,,6.67999,38,Q9Y5I7_R149X,R,X,149,RX,R149X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0021488,0,0.0732786,0.959768
6390,Q9Y5I7,L,W,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,16666,145,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.5,probably_damaging,0.996,deleterious,0,4.56365,24.7,Q9Y5I7_L151W,L,W,151,LW,L151W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,-1.15,-4.908,3.758,,,,,,0.396,,49.84,0.00396152,0,0.135096,0.827704
6406,P18077,R,X,102,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,579,6,ENSG00000182899,ENST00000448864,CCDS33930.1,RPL35A,0.93,,,,,4.52051,24.3,P18077_R102X,R,X,102,RX,R102X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0169616,0,0.578425,0.933515
6491,O95436,G,R,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,628,1965,ENSG00000157765,ENST00000507530,,SLC34A2,0.66,probably_damaging,0.911,deleterious,0.02,3.01496,16.06,O95436_G106R,G,R,106,GR,G106R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.268,-3.833,2.565,,,,,,2.402,,76.96,,,,0.826876
6521,P30968,S,R,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,504,13352,ENSG00000109163,ENST00000420975,CCDS47064.1,GNRHR,0.67,possibly_damaging,0.623,tolerated,0.35,0.193499,5.042,P30968_S168R,S,R,168,SR,S168R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-2.27,-4.041,1.771,,,,,,2.153,,92.68,0.005968,0,0.203521,0.93738
6537,P02768,E,X,268,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,1704,144,ENSG00000163631,ENST00000509063,,ALB,0.44,,,,,4.9554,28.8,P02768_E268X,E,X,268,EX,E268X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00184302,0,0.0628509,0.96137
6541,Q14108,W,X,178,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,34008,18310,ENSG00000138760,ENST00000264896,CCDS3577.1,SCARB2,0.37,,,,,7.27562,38,Q14108_W178X,W,X,178,WX,W178X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
6571,O00238,R,Q,516,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,50266,53,ENSG00000138696,ENST00000440890,,BMPR1B,0.97,possibly_damaging,0.888,deleterious,0,6.15742,37,O00238_R516Q,R,Q,516,RQ,R516Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
6616,P08235,S,X,675,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,48,2475,ENSG00000151623,ENST00000358102,CCDS3772.1,NR3C2,0.69,,,,,11.1179,44,P08235_S675X,S,X,675,SX,S675X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.0010964,0,0.0373896,0.910726
6624,P02675,L,R,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,6665,1019,ENSG00000171564,ENST00000509493,,FGB,0.6,probably_damaging,0.998,deleterious,0,4.41779,23.5,P02675_L164R,L,R,164,LR,L164R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.00200921,0,0.068518,0.961063
6652,Q6ZWL3,R,C,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,3018,16264,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.16,probably_damaging,0.972,deleterious,0,2.108,13.01,Q6ZWL3_R85C,R,C,85,RC,R85C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.452,-4.851,3.399,,,,,,0.938,,51.43,0.00403676,0.00227273,0.137662,0.808059
6742,Q6KC79,M,K,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.46,0.03,,,,,,,,,76908,110493,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0,probably_damaging,0.933,deleterious,0,4.83067,27.4,Q6KC79_M1K,M,K,1,MK,M1K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.296,-3.313,2.017,,,,,,,,,,,,0.804161
6783,P10912,H,Q,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,134032,19904,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.26,probably_damaging,0.999,deleterious,0,3.86818,19.65,P10912_H168Q,H,Q,168,HQ,H168Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.811,-2.634,0.823,0.035,E,B,0.47,-1.41,14.519,14.519,76.65,0.00120434,0,0.0410703,0.738407
6784,P10912,D,H,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,134036,19900,ENSG00000112964,ENST00000230882,CCDS3940.1,GHR,0.27,probably_damaging,1,deleterious,0,4.96043,28.9,P10912_D170H,D,H,170,DH,D170H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-0.924,-4.311,3.387,0.049,E,B,0.58,-1.35,,,,0.000411666,0,0.0140387,0.559878
6873,O76082,Y,C,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,8195,2871,ENSG00000197375,ENST00000245407,CCDS4154.1,SLC22A5,0.38,probably_damaging,1,deleterious,0,4.44098,23.6,O76082_Y211C,Y,C,211,YC,Y211C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,,,,,,,,,0.00215835,0,0.0736042,0.756178
6917,Q9UH77,R,X,158,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,10978,1239,ENSG00000146021,ENST00000506491,,KLHL3,0.31,,,,,7.4481,39,Q9UH77_R158X,R,X,158,RX,R158X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000533463,0,0.0181922,0.977351
6929,Q9H173,R,X,121,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,38310,10,ENSG00000120725,ENST00000505830,,SIL1,0.98,,,,,0.326388,5.77,Q9H173_R121X,R,X,121,RX,R121X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6938,P04150,I,N,559,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,89446,6,ENSG00000113580,ENST00000394464,CCDS4278.1,NR3C1,0.72,probably_damaging,0.999,deleterious,0,5.07987,31,P04150_I559N,I,N,559,IN,I559N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.622,-3.988,2.366,0.008,H,A,1.09,0.06,1.144,,82.63,0.00102468,0,0.0349435,0.750275
7060,P00488,Y,X,442,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.01,,,,,,,,,138714,38036,ENSG00000124491,ENST00000264870,CCDS4496.1,F13A1,0.6,,,,,7.84431,39,P00488_Y442X,Y,X,442,YX,Y442X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00180504,0,0.0615557,0.942845
7065,P00488,R,H,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,72507,104243,ENSG00000124491,ENST00000264870,CCDS4496.1,F13A1,0.36,probably_damaging,1,deleterious,0,4.19629,21.8,P00488_R261H,R,H,261,RH,R261H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.415,-4.07,2.655,0.013,H,A,1.03,-0.82,2.455,,80.19,0.00025318,0,0.00863395,0.648059
7066,P00488,R,X,172,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,39040,99,ENSG00000124491,ENST00000264870,CCDS4496.1,F13A1,0.23,,,,,4.01736,20.6,P00488_R172X,R,X,172,RX,R172X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00159359,0,0.0543446,0.900587
7072,P15924,C,X,809,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.01,,,,,,,,,33169,11787,ENSG00000096696,ENST00000379802,CCDS4501.1,DSP,0.28,,,,,10.1,43,P15924_C809X,C,X,809,CX,C809X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
7075,P15924,R,C,2366,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.08,,,,,,,,,42741,2215,ENSG00000096696,ENST00000379802,CCDS4501.1,DSP,0.82,probably_damaging,0.999,deleterious,0.04,3.29125,17.06,P15924_R2366C,R,C,2366,RC,R2366C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.331,-4.958,3.627,0.214,H,A,1.66,-0.01,0.883,,85.09,,,,0.685743
7101,P51649,G,D,381,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,0,0,0,,,,,,5411,5709,ENSG00000112294,ENST00000491546,,ALDH5A1,0.75,probably_damaging,1,deleterious,0,4.23333,22,P51649_G381D,G,D,381,GD,G381D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,0.034,.,b,0.46,-0.33,,,,0.000333064,0,0.0113582,0.608876
7162,Q9Y253,Q,X,126,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,3988,26,ENSG00000170734,ENST00000372226,,POLH,0.3,,,,,4.79187,27,Q9Y253_Q126X,Q,X,126,QX,Q126X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00147825,0,0.0504113,0.904853
7224,Q86YH6,S,L,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,0,0,0,,,,,,304883,228,ENSG00000164494,ENST00000453874,,PDSS2,0.94,benign,0.02,deleterious,0,3.79442,19.27,Q86YH6_S280L,S,L,280,SL,S280L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,,,,0.932753
7234,Q03692,S,P,671,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,2186,1079,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.99,,,deleterious,0,1.97645,12.57,Q03692_S671P,S,P,671,SP,S671P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.521,-3.676,2.155,0.144,E,B,0.25,-1.05,1.933,,72.79,0.011105,0,0.378702,0.586634
7246,Q5TD94,R,X,490,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,11551,4267,ENSG00000111834,ENST00000368581,CCDS55051.1,RSPH4A,0.82,,,,,6.37888,37,Q5TD94_R490X,R,X,490,RX,R490X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7254,P17302,V,M,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,11441,2595,ENSG00000152661,ENST00000282561,CCDS5123.1,GJA1,0.25,possibly_damaging,0.77,deleterious,0,4.7294,26.4,P17302_V96M,V,M,96,VM,V96M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.304,-3.765,2.461,,,,,,,,,0.00248464,0,0.0847313,0.81923
7264,P24043,R,X,2578,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,12,1807,ENSG00000196569,ENST00000421865,CCDS5138.1,LAMA2,0.83,,,,,17.1429,50,P24043_R2578X,R,X,2578,RX,R2578X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7269,P05089,G,V,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,8074,26,ENSG00000118520,ENST00000368087,CCDS5145.1,ARG1,0.43,probably_damaging,1,deleterious,0,4.84989,27.6,P05089_G138V,G,V,138,GV,G138V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.809,-3.571,2.762,,.,l,0.73,-0.4,,,,0.00116413,0,0.0396994,0.554663
7270,P05089,T,S,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,10556,382,ENSG00000118520,ENST00000476845,,ARG1,0.86,benign,0.001,deleterious,0,2.57404,14.57,P05089_T204S,T,S,204,TS,T204S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,,,,,,,,,,,,0.00193068,0,0.0658402,0.973785
7305,Q8NF91,Q,X,2235,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,16548,80058,ENSG00000131018,ENST00000356820,,SYNE1,0.67,,,,,15.7127,49,Q8NF91_Q2235X,Q,X,2235,QX,Q2235X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7312,P00747,R,H,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,14420,14552,ENSG00000122194,ENST00000308192,CCDS5279.1,PLG,0.29,probably_damaging,1,deleterious,0,4.11904,21.2,P00747_R235H,R,H,235,RH,R235H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.336,-4.228,2.892,0.021,B,B,1.03,-1.12,0.426,,47.9,0.000460564,0,0.0157062,0.580188
7440,P08236,W,C,576,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,15189,271,ENSG00000169919,ENST00000345660,,GUSB,0.96,probably_damaging,0.915,deleterious,0.04,4.01687,20.6,P08236_W576C,W,C,576,WC,W576C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,0.00228896,0,0.0780583,0.930399
7514,O43556,R,X,363,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,224,10603,ENSG00000127990,ENST00000447873,,SGCE,0.85,,,,,6.61225,37,O43556_R363X,R,X,363,RX,R363X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00533036,0,0.181776,0.933136
7548,O43511,K,E,369,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,28521,28654,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.47,probably_damaging,0.999,deleterious,0,5.03552,29.8,O43511_K369E,K,E,369,KE,K369E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.18,-3.336,2.156,,,,,,3.284,,35.13,0.000612328,0,0.0208817,0.85149
7560,O43511,F,C,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,196,139,ENSG00000091137,ENST00000544569,,SLC26A4,0.69,probably_damaging,1,deleterious,0,3.86093,19.62,O43511_F254C,F,C,254,FC,F254C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,,,,,,,,,,,,0.00155704,0,0.0530983,0.880789
7569,P09622,E,K,375,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,0,0,0,,,,,,26175,2245,ENSG00000091140,ENST00000417551,CCDS5749.1,DLD,0.74,probably_damaging,0.995,deleterious,0,4.8853,28,P09622_E375K,E,K,375,EK,E375K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.726,-2.007,0.281,0.128,T,A,1.3,0.83,25.857,25.857,93.32,0.000433837,0,0.0147947,0.882774
7592,P13569,T,I,308,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,60148,126829,ENSG00000001626,ENST00000426809,,CFTR,0.21,probably_damaging,1,deleterious,0.01,3.78825,19.23,P13569_T308I,T,I,308,TI,T308I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.000400241,0,0.0136491,0.990529
7697,P35523,S,F,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,244,9178,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.19,probably_damaging,1,deleterious,0,4.59474,25,P35523_S189F,S,F,189,SF,S189F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.239,-3.844,2.605,,,,,,,,,0.000285952,0,0.00975156,0.797826
7698,P35523,E,K,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,255,9167,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.2,probably_damaging,1,deleterious,0,5.26316,33,P35523_E193K,E,K,193,EK,E193K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,0.000293386,0,0.010005,0.912142
7712,P35523,G,R,499,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,23408,12550,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.51,probably_damaging,0.942,deleterious,0,4.94616,28.7,P35523_G499R,G,R,499,GR,G499R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.000282117,0,0.00962078,0.78896
7768,P43694,Q,E,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,46849,2001,ENSG00000136574,ENST00000532059,,GATA4,0.72,probably_damaging,0.976,deleterious,0,4.96525,29,P43694_Q317E,Q,E,317,QE,Q317E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,,,,,,,,,,,,0.000702463,0,0.0239555,1.00549
7770,Q13510,N,D,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,2451,149,ENSG00000104763,ENST00000520781,,ASAH1,0.8,possibly_damaging,0.661,deleterious,0.01,5.26909,33,Q13510_N295D,N,D,295,ND,N295D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,,,,,,,,,,,,0.0030512,0,0.104052,0.979081
7794,P06858,G,E,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,15272,92,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.47,probably_damaging,0.999,deleterious,0,5.16808,32,P06858_G222E,G,E,222,GE,G222E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.999,-3.405,2.406,,,,,,4.713,,90.32,0.000539559,0,0.0184001,0.86439
7798,P06858,C,W,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,16892,11396,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.56,probably_damaging,1,deleterious,0,3.26265,16.95,P06858_C266W,C,W,266,CW,C266W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.194,-4.915,3.721,,,,,,,,,0.0012267,0,0.0418331,0.700418
7799,P06858,R,C,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,16902,11386,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.57,probably_damaging,1,deleterious,0,4.74108,26.5,P06858_R270C,R,C,270,RC,R270C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.00102451,0,0.034938,0.701416
7800,P06858,R,H,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,16903,11385,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.57,probably_damaging,1,deleterious,0,5.53431,35,P06858_R270H,R,H,270,RH,R270H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.00102451,0,0.034938,0.74979
7803,P06858,N,S,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,0.013,0.004,0.018,0.01,,0.01,0.002,0.02,17047,11241,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.67,benign,0.047,tolerated,0.21,2.33891,13.78,P06858_N318S,N,S,318,NS,N318S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.627,-1.978,0.351,,,,,,11.436,11.436,52,0.0024322,0,0.0829432,1.00913
7893,Q99502,R,Q,406,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,82376,1238,ENSG00000104313,ENST00000388741,,EYA1,0.73,possibly_damaging,0.88,deleterious,0,5.66264,36,Q99502_R406Q,R,Q,406,RQ,R406Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000695774,0,0.0237273,0.995654
7894,Q99502,G,S,392,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,82333,1281,ENSG00000104313,ENST00000388741,,EYA1,0.7,possibly_damaging,0.838,deleterious,0,5.47983,35,Q99502_G392S,G,S,392,GS,G392S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.000148494,0,0.00506394,0.99397
7915,P00918,N,D,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,0.029,0.087,0,0.03,,0.02,0.11,,16792,127,ENSG00000104267,ENST00000285379,CCDS6239.1,CA2,0.97,benign,0.004,tolerated,0.07,3.27431,16.99,P00918_N252D,N,D,252,ND,N252D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.849,-3.315,1.466,0.994,S,b,0.14,1.15,4.315,,88.08,0.00978833,0,0.333802,0.952063
7936,Q7Z7G8,S,X,1652,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0,,,,,,,,,35685,21202,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.41,,,,,11.1731,44,Q7Z7G8_S1652X,S,X,1652,SX,S1652X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
7959,Q8WW38,R,X,112,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,32511,28,ENSG00000169946,ENST00000407775,CCDS47908.1,ZFPM2,0.1,,,,,5.89138,36,Q8WW38_R112X,R,X,112,RX,R112X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000628626,0,0.0214374,0.977351
7996,P01266,C,Y,1897,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,3190,101,ENSG00000042832,ENST00000220616,CCDS34944.1,TG,0.69,probably_damaging,0.999,deleterious,0,2.79538,15.31,P01266_C1897Y,C,Y,1897,CY,C1897Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.111,-4.018,2.907,,,,,,,,,9.84e-05,0,0.0033572,0.792108
8037,P17643,S,X,166,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,0.001,0.002,0,,,,,,95,13610,ENSG00000107165,ENST00000388918,CCDS34990.1,TYRP1,0.31,,,,,6.88217,38,P17643_S166X,S,X,166,SX,S166X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
8129,Q8TDI8,M,V,654,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,12155,9482,ENSG00000165091,ENST00000297784,CCDS6643.1,TMC1,0.86,benign,0.053,tolerated,0.21,2.09576,12.96,Q8TDI8_M654V,M,V,654,MV,M654V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-3.046,-2.139,-0.907,,,,,,10.769,10.769,32.89,0.00212335,0,0.0724106,1.00029
8167,P37058,C,Y,268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,873,1450,ENSG00000130948,ENST00000375263,CCDS6716.1,HSD17B3,0.86,benign,0.319,tolerated,0.72,0.488349,6.65,P37058_C268Y,C,Y,268,CY,C268Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.466,-4.003,2.537,,,,,,1.318,,73.23,0.0060152,0,0.205131,0.836724
8193,Q14032,M,V,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,297,9675,ENSG00000136881,ENST00000395051,CCDS6752.1,BAAT,0.18,probably_damaging,0.998,deleterious,0,3.36944,17.36,Q14032_M76V,M,V,76,MV,M76V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.349,-2.071,0.722,,,,,,17.326,17.326,64.35,0.00122581,0,0.0418025,1.00098
8299,Q9Y6A1,G,R,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,3208,557,ENSG00000130714,ENST00000448212,,POMT1,0.1,probably_damaging,0.977,tolerated,0.06,5.02039,29.6,Q9Y6A1_G22R,G,R,22,GR,G22R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
8364,P08842,S,L,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,85653,49702,ENSG00000101846,ENST00000217961,CCDS14127.1,STS,0.58,probably_damaging,1,deleterious,0,2.4909,14.29,P08842_S341L,S,L,341,SL,S341L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.363,-3.129,1.766,,E,B,0.82,-0.71,4.534,,76.16,0.00108739,0,0.0370823,0.663477
8370,P23352,S,L,396,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,0,0,0,0.001,,0.004,,,2399,2446,ENSG00000011201,ENST00000262648,CCDS14130.1,KAL1,0.58,benign,0.125,deleterious,0,2.23258,13.42,P23352_S396L,S,L,396,SL,S396L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-2,-3.196,1.196,,,,,0,5.344,,84.12,0.00186017,0,0.0634356,0.864678
8374,P23352,W,X,237,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,144378,58935,ENSG00000011201,ENST00000262648,CCDS14130.1,KAL1,0.35,,,,,4.87476,27.9,P23352_W237X,W,X,237,WX,W237X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000603895,0,0.0205941,0.956807
8400,Q6T4R5,R,X,373,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,5107,1,ENSG00000188158,ENST00000380060,CCDS14181.1,NHS,0.23,,,,,7.02052,38,Q6T4R5_R373X,R,X,373,RX,R373X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8428,P51812,R,Q,699,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,17430,7,ENSG00000177189,ENST00000379548,,RPS6KA3,0.98,probably_damaging,0.999,deleterious,0,4.71926,26.2,P51812_R699Q,R,Q,699,RQ,R699Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00184084,0,0.0627763,0.976146
8486,P11532,R,X,2982,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,430753,323224,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.81,,,,,18.824,52,P11532_R2982X,R,X,2982,RX,R2982X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8497,P11532,R,X,1967,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,6388,509,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.53,,,,,13.3768,47,P11532_R1967X,R,X,1967,RX,R1967X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8516,P11532,Q,X,85,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.01,,,,,,,,,5009,271183,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.02,,,,,7.90093,39,P11532_Q85X,Q,X,85,QX,Q85X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8519,P51811,C,R,294,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,42248,4124,ENSG00000047597,ENST00000378616,CCDS14241.1,XK,0.66,probably_damaging,1,deleterious,0,3.76591,19.12,P51811_C294R,C,R,294,CR,C294R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,0.00144871,0,0.0494041,0.701464
8654,P00480,A,P,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,13,2317,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.44,probably_damaging,0.985,deleterious,0.01,4.64689,25.5,P00480_A155P,A,P,155,AP,A155P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.325,-4.014,2.689,0.097,.,B,0.52,-0.28,2.361,,81.07,0.00500132,0,0.170555,0.681654
8655,P00480,A,S,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,13,2317,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.44,possibly_damaging,0.495,tolerated,1,1.79373,11.96,P00480_A155S,A,S,155,AS,A155S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.325,-1.474,0.149,0.097,.,B,0.27,-0.28,17.83,17.83,81.07,0.00500132,0,0.170555,0.912213
8692,P00480,Y,D,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,2261,44,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.52,probably_damaging,0.969,deleterious,0,4.54183,24.5,P00480_Y183D,Y,D,183,YD,Y183D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-2.276,-3.544,1.268,0.221,H,A,0.96,-0.68,15.914,15.914,65.82,0.00544285,0,0.185613,0.803438
8729,P00480,P,L,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,2373,69,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.62,probably_damaging,1,deleterious,0,5.16477,32,P00480_P220L,P,L,220,PL,P220L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.587,-3.734,3.147,0.023,.,b,1.07,0.38,,,,0.000367165,0,0.0125211,0.660116
8823,P41732,G,X,218,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,15162,6417,ENSG00000156298,ENST00000378482,CCDS14248.1,TSPAN7,0.88,,,,,6.96471,38,P41732_G218X,G,X,218,GX,G218X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,,,,0.933822
8835,O14936,Y,H,268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,4964,367,ENSG00000147044,ENST00000421587,CCDS48094.1,CASK,0.3,benign,0.002,tolerated,0.54,1.99544,12.63,O14936_Y268H,Y,H,268,YH,Y268H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.741,-3.383,1.642,0.492,H,A,0.38,-0.21,,,,0.000402977,0,0.0137423,0.88378
8860,O75695,R,H,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,16786,28633,ENSG00000102218,ENST00000218340,CCDS14270.1,RP2,0.34,probably_damaging,1,deleterious,0,4.85881,27.7,O75695_R118H,R,H,118,RH,R118H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.00130022,0,0.0443401,0.741467
8861,O75695,R,L,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,16786,28633,ENSG00000102218,ENST00000218340,CCDS14270.1,RP2,0.34,probably_damaging,1,deleterious,0,4.82029,27.3,O75695_R118L,R,L,118,RL,R118L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.281,-3.135,1.854,,,,,,,,,0.00130022,0,0.0443401,0.812633
8922,O95972,A,T,180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,0.01,0.003,0.014,0.001,,,,0.003,5182,642,ENSG00000130385,ENST00000252677,CCDS14334.1,BMP15,0.46,benign,0.013,tolerated,0.31,-0.366507,2.273,O95972_A180T,A,T,180,AT,A180T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.602,-2.202,0.6,,,,,,18.004,18.004,73.21,,,,0.980098
8963,P22557,D,Y,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,782,790,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.25,probably_damaging,0.981,deleterious,0,4.44344,23.7,P22557_D146Y,D,Y,146,DY,D146Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.393,-4.108,2.715,,,,,,1.328,,77.51,0.00236758,0,0.0807394,0.837712
8964,P22557,D,N,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,782,790,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.25,benign,0.257,deleterious,0.02,4.28833,22.4,P22557_D146N,D,N,146,DN,D146N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.393,-2.168,0.775,,,,,,24.55,24.55,77.51,0.00236758,0,0.0807394,1.00493
9062,P46020,E,X,1070,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,131477,1935,ENSG00000067177,ENST00000373545,,PHKA1,0.91,,,,,11.7376,45,P46020_E1070X,E,X,1070,EX,E1070X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00190461,0,0.0649512,0.96137
9110,Q9Y458,G,C,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,167,582,ENSG00000122145,ENST00000373294,CCDS14445.1,TBX22,0.23,probably_damaging,1,deleterious,0,4.20518,21.8,Q9Y458_G118C,G,C,118,GC,G118C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.763,-4.943,4.18,0.092,.,g,0.75,-0.96,,,,0.000529998,0,0.018074,0.556473
9113,Q9Y458,N,Y,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,3791,4514,ENSG00000122145,ENST00000373291,CCDS43975.1,TBX22,0.36,probably_damaging,0.999,deleterious,0,3.78633,19.22,Q9Y458_N144Y,N,Y,144,NY,N144Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,,,,,,,,,,,,0.0014402,0,0.0491137,0.890617
9140,Q06187,A,D,431,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,703,38,ENSG00000010671,ENST00000372880,,BTK,0.89,possibly_damaging,0.858,deleterious,0.01,3.99724,20.5,Q06187_A431D,A,D,431,AD,A431D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,,,,,,,,,,,,0.00118387,0,0.0403725,0.91136
9152,Q06187,K,E,430,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,41,334,ENSG00000010671,ENST00000308731,CCDS14482.1,BTK,0.65,probably_damaging,0.996,deleterious,0,4.25337,22.2,Q06187_K430E,K,E,430,KE,K430E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.265,-2.725,1.46,,E,B,1.3,0.54,,,,0.000322486,0,0.0109975,0.737195
9154,Q06187,L,P,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,106,399,ENSG00000010671,ENST00000308731,CCDS14482.1,BTK,0.62,probably_damaging,0.997,deleterious,0,3.93129,20,Q06187_L408P,L,P,408,LP,L408P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,0.555,E,A,1.07,1.73,,,,0.00108952,0,0.0371547,0.806145
9158,Q06187,R,G,307,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,311,2161,ENSG00000010671,ENST00000372880,,BTK,0.64,probably_damaging,0.99,deleterious,0.01,3.83812,19.49,Q06187_R307G,R,G,307,RG,R307G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.398,-3.094,1.696,,,,,,,,,0.000697172,0,0.023775,0.870319
9166,Q06187,Q,X,15,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.05,,,,,,,,,10907,936,ENSG00000010671,ENST00000372880,,BTK,0.03,,,,,6.7963,38,Q06187_Q15X,Q,X,15,QX,Q15X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000566966,0,0.0193347,0.98231
9218,P60201,V,F,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,439,9,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.76,possibly_damaging,0.78,deleterious,0.03,4.94899,28.8,P60201_V184F,V,F,184,VF,V184F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,0.00314034,0,0.107092,0.955386
9232,P05543,I,N,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,683,3506,ENSG00000123561,ENST00000327674,CCDS14518.1,SERPINA7,0.28,probably_damaging,0.986,deleterious,0,2.03562,12.76,P05543_I116N,I,N,116,IN,I116N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.479,-4.055,2.576,0.038,H,A,1.09,-0.06,0.568,,40.48,0.00347175,0,0.118394,0.62374
9239,P60891,D,H,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,5835,5058,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.58,probably_damaging,0.919,deleterious,0,4.14478,21.4,P60891_D183H,D,H,183,DH,D183H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.497,-4.058,2.561,0.116,H,A,0.58,0.26,,,,0.00273668,0,0.0933264,0.666606
9276,P29400,G,D,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,140661,116999,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.16,,,deleterious,0,4.06454,20.9,P29400_G264D,G,D,264,GD,G264D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.985,-3.279,2.294,,,,,,0.349,,7.12,0.000224808,0,0.0076664,0.782252
9297,P29400,G,D,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,4238,40540,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.23,,,deleterious,0,3.01977,16.07,P29400_G383D,G,D,383,GD,G383D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.074,-1.989,0.915,,,,,,15.987,15.987,40.3,2.49e-05,0,0.000850574,0.945251
9339,P29400,G,S,675,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,18975,25803,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.4,,,deleterious,0.01,4.24489,22.1,P29400_G675S,G,S,675,GS,G675S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,2.8e-05,0,0.000954556,0.865373
9354,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.46,0,,,,,,,,,24249,20529,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,1.93055,12.41,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9359,P29400,G,R,802,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,32427,12351,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.47,,,deleterious,0,3.50759,17.92,P29400_G802R,G,R,802,GR,G802R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.176,-3.57,2.394,,,,,,2.719,,54.84,2.6e-05,0,0.000886731,0.835584
9372,P29400,S,G,916,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,806,4685,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.54,,,deleterious,0.05,2.93121,15.77,P29400_S916G,S,G,916,SG,S916G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-1.88,-3.058,1.178,,,,,,5.602,,87.48,2.37e-05,0,0.000806767,0.987144
9374,P29400,G,D,13,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,36,3844,ENSG00000188153,ENST00000505728,,COL4A5,0.07,,,deleterious,0,2.93339,15.78,P29400_G13D,G,D,13,GD,G13D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.000226298,0,0.00771723,0.97884
9378,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.46,0,,,,,,,,,1659,2221,ENSG00000188153,ENST00000505728,,COL4A5,,,,,,4.37201,23.1,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9379,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.46,0.01,,,,,,,,,3028,852,ENSG00000188153,ENST00000505728,,COL4A5,,,,,,2.56317,14.53,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9382,P29400,G,V,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,3092,788,ENSG00000188153,ENST00000505728,,COL4A5,0.6,probably_damaging,0.98,deleterious,0,4.08721,21,P29400_G105V,G,V,105,GV,G105V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.809,-3.571,2.762,,,,,,,,,5.14e-05,0,0.00175195,0.799299
9386,P29400,G,E,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,3561,319,ENSG00000188153,ENST00000505728,,COL4A5,0.71,probably_damaging,0.972,deleterious,0,3.64904,18.55,P29400_G123E,G,E,123,GE,G123E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.809,-3.482,2.673,,,,,,,,,2.17e-05,0,0.000738854,0.808191
9399,P29400,G,D,1143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,225679,31981,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.68,,,deleterious,0,3.76991,19.14,P29400_G1143D,G,D,1143,GD,G1143D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,1.61e-05,0,0.000547366,0.812925
9401,P29400,G,R,1179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,226694,30966,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.7,,,deleterious,0,3.60977,18.37,P29400_G1179R,G,R,1179,GR,G1179R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,1.42e-05,0,0.000484845,0.793499
9402,P29400,Q,X,1180,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,226697,30963,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.7,,,,,11.0528,44,P29400_Q1180X,Q,X,1180,QX,Q1180X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,1.42e-05,0,0.000482981,0.989951
9431,P29400,C,X,1527,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.04,,,,,,,,,23,3963,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.9,,,,,13.824,47,P29400_C1527X,C,X,1527,CX,C1527X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000496538,0,0.016933,0.980504
9432,P29400,W,X,10,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.01,,,,,,,,,29,3912,ENSG00000188153,ENST00000504541,,COL4A5,0.14,,,,,6.50048,37,P29400_W10X,W,X,10,WX,W10X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000247551,0,0.00844199,0.956807
9435,P29400,C,R,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,2052,1889,ENSG00000188153,ENST00000504541,,COL4A5,0.79,probably_damaging,1,deleterious,0,4.29266,22.5,P29400_C58R,C,R,58,CR,C58R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.000127356,0,0.00434311,0.969281
9436,P29400,C,F,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,2053,1888,ENSG00000188153,ENST00000504541,,COL4A5,0.79,probably_damaging,1,deleterious,0,4.58523,24.9,P29400_C58F,C,F,58,CF,C58F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,0.000127356,0,0.00434311,0.969991
9437,P29400,G,V,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,2062,1879,ENSG00000188153,ENST00000504541,,COL4A5,0.84,probably_damaging,0.999,deleterious,0,3.765,19.12,P29400_G61V,G,V,61,GV,G61V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.000122578,0,0.00418015,0.980924
9438,P29400,W,G,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,2064,1877,ENSG00000188153,ENST00000504541,,COL4A5,0.85,probably_damaging,1,deleterious,0,4.25261,22.2,P29400_W62G,W,G,62,WG,W62G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,,,,,,,,,,,,0.000120981,0,0.0041257,0.954247
9450,O75914,A,E,380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.01,,,,,,,,,71325,26046,ENSG00000077264,ENST00000372010,CCDS48153.1,PAK3,0.68,probably_damaging,0.997,deleterious,0,4.84929,27.6,O75914_A380E,A,E,380,AE,A380E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.307,-3.122,1.815,,,,,,,,,,,,0.847122
9452,O75914,W,S,461,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,73493,23878,ENSG00000077264,ENST00000372010,CCDS48153.1,PAK3,0.82,probably_damaging,1,deleterious,0,4.31507,22.6,O75914_W461S,W,S,461,WS,W461S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.461,-3.517,2.056,,,,,,,,,,,,0.752618
9465,P50052,R,Q,324,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,0.003,0.007,0,0.002,,,0.01,,2529,1722,ENSG00000180772,ENST00000371906,CCDS14569.1,AGTR2,0.89,benign,0.006,tolerated,0.71,-0.003292,3.997,P50052_R324Q,R,Q,324,RQ,R324Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.006,-2.071,0.065,,,,,,19.625,19.625,91.74,0.00196274,0,0.0669335,1.01553
9482,P42263,M,T,706,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.07,,,,,,,,,181,271,ENSG00000125675,ENST00000371256,CCDS14605.1,GRIA3,0.79,probably_damaging,1,deleterious,0,2.56621,14.54,P42263_M706T,M,T,706,MT,M706T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.998,-3.103,1.105,,,,,,,,,7.3e-05,0,0.00248926,0.939571
9497,Q9Y397,P,S,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,71,830,ENSG00000188706,ENST00000406492,,ZDHHC9,0.88,probably_damaging,0.999,deleterious,0,4.73674,26.4,Q9Y397_P150S,P,S,150,PS,P150S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.236,-3.067,1.831,,,,,,,,,0.000750987,0,0.0256102,0.908741
9505,P51654,W,R,26,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,75,157261,ENSG00000147257,ENST00000406757,,GPC3,0.1,probably_damaging,1,deleterious,0,3.26723,16.96,P51654_W26R,W,R,26,WR,W26R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,,,,0.936836
9521,P00492,G,E,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,1881,23387,ENSG00000165704,ENST00000298556,CCDS14641.1,HPRT1,0.32,probably_damaging,0.994,deleterious,0,4.57138,24.8,P00492_G70E,G,E,70,GE,G70E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.008,-3.347,2.339,0.471,S,A,0.75,0.07,,,,0.00232233,0,0.0791962,0.708695
9557,P29965,E,G,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,8168,3996,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.49,benign,0.046,tolerated,0.25,1.64777,11.47,P29965_E129G,E,G,129,EG,E129G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-2.156,-2.972,0.816,0.337,.,B,0.75,-0.26,14.065,14.065,91.19,0.00716975,0,0.244503,0.881146
9602,P00740,T,M,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,,,,,,,,,30945,362,ENSG00000101981,ENST00000394090,,F9,0.72,probably_damaging,0.999,deleterious,0,4.30014,22.5,P00740_T304M,T,M,304,TM,T304M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00335109,0,0.114279,0.965955
9607,P00740,V,F,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,31040,267,ENSG00000101981,ENST00000394090,,F9,0.79,probably_damaging,0.981,deleterious,0,2.58658,14.61,P00740_V336F,V,F,336,VF,V336F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,0.00227696,0,0.0776491,0.964673
9608,P00740,R,X,341,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,31055,252,ENSG00000101981,ENST00000394090,,F9,0.81,,,,,3.98351,20.4,P00740_R341X,R,X,341,RX,R341X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00367994,0,0.125493,0.951177
9611,P00740,I,T,352,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,31089,218,ENSG00000101981,ENST00000394090,,F9,0.83,probably_damaging,0.999,deleterious,0,3.57355,18.21,P00740_I352T,I,T,352,IT,I352T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.00404766,0,0.138034,0.966884
9612,P00740,M,V,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,31100,207,ENSG00000101981,ENST00000394090,,F9,0.84,probably_damaging,1,deleterious,0,4.01719,20.6,P00740_M356V,M,V,356,MV,M356V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,0.00262454,0,0.0895022,0.966803
9613,P00740,C,S,358,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,31107,200,ENSG00000101981,ENST00000394090,,F9,0.85,probably_damaging,1,deleterious,0,4.58598,24.9,P00740_C358S,C,S,358,CS,C358S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,,,,,,,,,,,,0.00341376,0,0.116416,0.95918
9614,P00740,A,P,359,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.03,,,,,,,,,31109,198,ENSG00000101981,ENST00000394090,,F9,0.85,probably_damaging,1,deleterious,0,4.96387,28.9,P00740_A359P,A,P,359,AP,A359P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00408058,0,0.139156,0.976925
9619,P00740,S,I,373,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0,,,,,,,,,31152,155,ENSG00000101981,ENST00000394090,,F9,0.88,probably_damaging,1,deleterious,0,4.64612,25.5,P00740_S373I,S,I,373,SI,S373I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,,,,,,,,,,,,0.00334071,0,0.113925,0.949277
9629,P22304,W,X,264,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,7380,117,ENSG00000010404,ENST00000541269,,IDS,0.78,,,,,13.6671,47,P22304_W264X,W,X,264,WX,W264X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00310192,0,0.105782,0.931205
9639,P22304,S,L,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,32,3035,ENSG00000010404,ENST00000541269,,IDS,0.36,probably_damaging,0.919,deleterious,0.02,3.82416,19.42,P22304_S122L,S,L,122,SL,S122L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00359926,0,0.122742,0.949277
9640,P22304,G,D,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.08,,,,,,,,,32,3098,ENSG00000010404,ENST00000541269,,IDS,0.3,probably_damaging,0.978,deleterious,0,3.35936,17.32,P22304_G101D,G,D,101,GD,G101D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00331621,0,0.11309,0.951954
9646,P22304,R,X,172,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.03,,,,,,,,,35,114,ENSG00000010404,ENST00000370443,,IDS,0.55,,,,,5.87517,36,P22304_R172X,R,X,172,RX,R172X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00351244,0,0.119781,0.951177
9791,O60832,S,R,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.04,0,0,0,,,,,,690,23,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.54,benign,0.008,deleterious,0.02,3.02045,16.08,O60832_S280R,S,R,280,SR,S280R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.598,-3.625,2.027,0.6,T,A,0.93,0.8,2.382,,76.46,0.00279499,0,0.095315,0.82177
9817,Q05066,F,S,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.08,,,,,,,,,326,174,ENSG00000184895,ENST00000534739,,SRY,0.66,probably_damaging,0.987,deleterious,0.01,2.53049,14.42,Q05066_F109S,F,S,109,FS,F109S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.241,-3.388,2.147,0.396,H,A,0.85,0,,,,0.00114987,0,0.0392131,0.800087
9818,Q05066,W,X,107,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.46,0.07,,,,,,,,,320,180,ENSG00000184895,ENST00000534739,,SRY,0.65,,,,,1.42496,10.7,Q05066_W107X,W,X,107,WX,W107X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00547871,0,0.186835,0.909605
9819,Q05066,K,I,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.46,0.05,,,,,,,,,317,183,ENSG00000184895,ENST00000534739,,SRY,0.64,probably_damaging,0.999,deleterious,0,2.69028,14.96,Q05066_K106I,K,I,106,KI,K106I,PositiveCharge,Hydrophobic,9.74,6.02,-3.72,146,131,-15,168.6,166.7,-1.9,102,-1.166,-3.787,2.621,0.218,H,A,2.82,0,,,,0.00094679,0,0.0322875,0.725105
1,Q9Y487,A,V,813,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.09,0.026,0.007,0.035,0.02,,0.02,0.01,0.04,632,1057,ENSG00000185344,ENST00000330342,CCDS9254.1,ATP6V0A2,0.95,probably_damaging,0.996,deleterious,0,5.7427,36,Q9Y487_A813V,A,V,813,AV,A813V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-0.694,-3.137,2.443,,,,,,,,,0.00205996,0,0.081467,0.802282
42,Q9H6L5,S,T,241,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.01,0.033,0.102,0.001,0.03,,0.02,0.12,,2976,142,ENSG00000154153,ENST00000399793,CCDS43305.1,FAM134B,0.68,benign,0.015,tolerated,0.25,-0.37299,2.245,Q9H6L5_S241T,S,T,241,ST,S241T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,,,,,,,,,,,,,,,0.955431
63,Q96SN8,F,L,182,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.07,,,,,,,,,51,8582,ENSG00000136861,ENST00000349780,CCDS6823.1,CDK5RAP2,0.1,benign,0.181,tolerated,0.55,1.48439,10.91,Q96SN8_F182L,F,L,182,FL,F182L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.925,-2.354,0.429,,,,,,28.665,28.665,78.34,,,,0.970053
69,Q96SN8,R,T,439,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.01,0.081,0.182,0.03,0.07,0.05,0.03,0.17,0.03,4439,3844,ENSG00000136861,ENST00000416449,,CDK5RAP2,0.34,benign,0,tolerated,1,-0.653319,1.128,Q96SN8_R439T,R,T,439,RT,R439T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,,,,,,,,,,,,,,,0.936879
78,Q96RK4,I,T,354,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.03,0.533,0.322,0.64,0.45,0.25,0.58,0.28,0.65,381,78,ENSG00000140463,ENST00000268057,CCDS10246.1,BBS4,0.68,benign,0.001,tolerated,0.41,0.64454,7.46,Q96RK4_I354T,I,T,354,IT,I354T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-2.425,-2.588,0.163,,,,,,23.122,23.122,94.03,0.00241339,0,0.0954444,1.00743
202,P35670,S,A,406,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.05,0.401,0.186,0.502,0.43,0.53,0.43,0.16,0.51,29,9230,ENSG00000123191,ENST00000400370,,ATP7B,0.39,possibly_damaging,0.543,deleterious,0.05,2.62322,14.73,P35670_S406A,S,A,406,SA,S406A,Polar,Hydrophobic,5.68,6,0.32,105,89,-16,89,88.6,-0.4,99,-2.236,-2.452,0.216,,,,,,24.774,24.774,85.67,0.000580361,0,0.022952,1.0113
212,P29400,G,V,666,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.01,,,,,,,,,18949,25829,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.39,,,deleterious,0,3.04568,16.16,P29400_G666V,G,V,666,GV,G666V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,,,,,,,,,3.43e-05,0,0.00135609,0.809788
216,P29400,P,A,31,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.01,,,,,,,,,90,3851,ENSG00000188153,ENST00000504541,,COL4A5,0.42,probably_damaging,0.999,deleterious,0.03,4.65682,25.6,P29400_P31A,P,A,31,PA,P31A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,,,,,,,,,,,,0.000148445,0,0.00587069,1.00418
322,P02768,D,A,574,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.05,,,,,,,,,28,30,ENSG00000163631,ENST00000509063,,ALB,0.95,benign,0.006,tolerated,0.38,0.799677,8.208,P02768_D574A,D,A,574,DA,D574A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-1.761,-2.36,0.599,0.585,H,A,0.75,0.97,13.889,13.889,91.79,0.00493555,0,0.19519,0.950644
323,P02768,D,G,574,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.05,,,,,,,,,28,30,ENSG00000163631,ENST00000509063,,ALB,0.95,benign,0.004,tolerated,0.38,0.873781,8.543,P02768_D574G,D,G,574,DG,D574G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.761,-2.334,0.573,0.585,H,A,0.46,0.97,25.535,25.535,91.79,0.00493555,0,0.19519,0.950959
352,P00491,G,S,90,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.03,0.2,0.246,0.177,0.22,0.21,0.23,0.28,0.19,938,754,ENSG00000198805,ENST00000553591,,PNP,0.41,benign,0,tolerated,1,-0.239923,2.844,P00491_G90S,G,S,90,GS,G90S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.667,-2.784,2.117,0.793,T,l,0.02,-1.1,10.273,10.273,59.17,0.000905643,0,0.0358162,0.712428
384,O75445,R,W,5031,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.47,0.05,0.013,0.004,0.017,0.01,,0.02,,0.02,788732,11771,ENSG00000042781,ENST00000366943,,USH2A,0.96,benign,0.353,deleterious,0.03,1.43635,10.74,O75445_R5031W,R,W,5031,RW,R5031W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
83,P21912,C,Y,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,16157,972,ENSG00000117118,ENST00000375499,CCDS176.1,SDHB,0.36,probably_damaging,1,deleterious,0,4.96175,28.9,P21912_C101Y,C,Y,101,CY,C101Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-0.86,-4.219,3.359,0.067,.,a,0.25,-0.22,1.343,,62.86,0.000679058,0,0.0231573,0.58673
388,O43395,T,M,494,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,1065,160,ENSG00000117360,ENST00000324862,CCDS951.1,PRPF3,0.72,probably_damaging,0.993,deleterious,0,4.88045,28,O43395_T494M,T,M,494,TM,T494M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.245,-4.215,2.97,,,,,,,,,0.00257341,0,0.0877585,0.794436
394,P43235,L,P,309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,11461,655,ENSG00000143387,ENST00000271651,CCDS969.1,CTSK,0.94,probably_damaging,0.999,tolerated,0.09,3.28722,17.04,P43235_L309P,L,P,309,LP,L309P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.67,-3.997,2.327,0.124,E,B,1.07,-1.24,1.003,,90.58,0.00548804,0,0.187153,0.596024
396,P43235,G,R,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0,,,,,,,,,2566,162,ENSG00000143387,ENST00000271651,CCDS969.1,CTSK,0.44,probably_damaging,1,deleterious,0,5.08259,31,P43235_G146R,G,R,146,GR,G146R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,0.057,H,A,0.91,-0.39,,,,0.000812288,0,0.0277007,0.546062
521,Q16832,I,R,726,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,143794,4158,ENSG00000162733,ENST00000367921,CCDS1241.1,DDR2,0.85,probably_damaging,0.95,deleterious,0,4.44037,23.6,Q16832_I726R,I,R,726,IR,I726R,Hydrophobic,PositiveCharge,6.02,6.34,0.32,131,174,43,166.7,173.4,6.7,97,-1.436,-3.893,2.457,,,,,,,,,0.00158209,0,0.0539526,0.723781
534,P12259,R,X,1166,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.01,,,,,,,,,44980,27443,ENSG00000198734,ENST00000367796,,F5,0.52,,,,,8.95789,41,P12259_R1166X,R,X,1166,RX,R1166X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000127886,0,0.00436118,0.978539
549,P31513,E,X,314,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.04,,,,,,,,,23213,3339,ENSG00000007933,ENST00000367755,CCDS1292.1,FMO3,0.59,,,,,5.1687,32,P31513_E314X,E,X,314,EX,E314X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00265716,0,0.0906145,0.953272
551,P31513,M,I,434,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,0,0,0,,,,,,26239,313,ENSG00000007933,ENST00000367755,CCDS1292.1,FMO3,0.82,benign,0.029,tolerated,0.1,2.71406,15.04,P31513_M434I,M,I,434,MI,M434I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.618,-2.296,0.678,,,,,,13.271,5.155,82.89,0.0035097,0,0.119688,1.0082
585,P01008,A,V,419,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,0,0,0,,,,,,13351,219,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.9,benign,0.055,tolerated,0.11,1.0206,9.169,P01008_A419V,A,V,419,AV,A419V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.631,-1.931,0.3,,E,B,0.44,-0.75,24.312,24.312,90.3,0.00556181,0,0.189669,0.889201
590,P01008,N,D,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,,,,,,,,,3805,1131,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.47,probably_damaging,0.994,deleterious,0,4.84382,27.6,P01008_N219D,N,D,219,ND,N219D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.079,-2.836,1.757,0.056,H,A,0.14,-0.54,,,,0.000528811,0,0.0180335,0.792296
781,Q99707,E,X,759,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0,,,,,,,,,2679,1115,ENSG00000116984,ENST00000366576,,MTR,0.93,,,,,6.04551,37,Q99707_E759X,E,X,759,EX,E759X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.0017467,0.00197628,0.0595659,0.941119
793,P07954,R,X,343,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.04,,,,,,,,,15639,6520,ENSG00000091483,ENST00000366560,CCDS1617.1,FH,0.67,,,,,6.68105,38,P07954_R343X,R,X,343,RX,R343X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000297415,0,0.0101425,0.977351
854,Q03468,W,X,517,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0,,,,,,,,,1450,17305,ENSG00000225830,ENST00000355832,CCDS7229.1,ERCC6,0.35,,,,,7.44728,39,Q03468_W517X,W,X,517,WX,W517X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
1068,Q9UMD9,R,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.05,,,,,,,,,8593,1601,ENSG00000065618,ENST00000353479,CCDS7554.1,COL17A1,0.1,,,,,6.7862,38,Q9UMD9_R145X,R,X,145,RX,R145X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1070,P50539,E,A,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.09,,,,,,,,,52338,8,ENSG00000119950,ENST00000453116,,MXI1,0.92,benign,0.416,tolerated,0.09,3.31601,17.15,P50539_E209A,E,A,209,EA,E209A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,,,,,,,,,,,,,,,0.939738
1100,P04181,G,X,263,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.08,,,,,,,,,5276,40,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.87,,,,,7.37398,39,P04181_G263X,G,X,263,GX,G263X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.000277473,0,0.00946241,0.968579
1347,P19544,H,Q,441,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,24916,3640,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.85,probably_damaging,1,deleterious,0,3.76174,19.1,P19544_H441Q,H,Q,441,HQ,H441Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,,,,,,,,,,,,0.0480718,0,1.63935,0.963493
1360,P15918,R,H,561,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,6961,589,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.54,probably_damaging,0.964,deleterious,0,4.17879,21.6,P15918_R561H,R,H,561,RH,R561H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.189,-4.219,3.03,,,,,,1.052,,84.85,4.49e-05,0,0.00153285,0.871273
1685,P14679,V,F,275,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,,,,0.001,,,,0.001,13312,9407,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.52,possibly_damaging,0.506,deleterious,0,3.0719,16.26,P14679_V275F,V,F,275,VF,V275F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.611,-3.983,2.372,,,,,,4.01,,60.87,0.00188974,0,0.0644441,0.852912
1711,P45452,H,N,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,3589,7787,ENSG00000137745,ENST00000260302,CCDS8324.1,MMP13,0.49,probably_damaging,1,deleterious,0,5.14206,32,P45452_H232N,H,N,232,HN,H232N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,-1.124,-3.079,1.955,0.518,.,B,0.44,-0.93,,,,0.000542583,0,0.0185032,0.726419
1878,Q9H4A3,Q,X,69,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.05,,,,,,,,,204,423,ENSG00000060237,ENST00000574679,,WNK1,0.29,,,,,4.27199,22.3,Q9H4A3_Q69X,Q,X,69,QX,Q69X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1967,P54840,H,D,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.08,,,,,,,,,46562,22097,ENSG00000111713,ENST00000261195,CCDS8690.1,GYS2,0.63,probably_damaging,0.998,deleterious,0,4.75357,26.6,P54840_H446D,H,D,446,HD,H446D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,-1.433,-3.204,1.771,,,,,,,,,0.000529186,0,0.0180463,0.911973
1970,P54840,N,S,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,371,68288,ENSG00000111713,ENST00000261195,CCDS8690.1,GYS2,0.06,probably_damaging,0.994,deleterious,0,4.23559,22,P54840_N39S,N,S,39,NS,N39S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.41,-2.617,1.207,,,,,,,,,0.00090414,0,0.030833,0.932449
1971,P07195,R,H,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,15331,3664,ENSG00000111716,ENST00000396076,CCDS8691.1,LDHB,0.51,benign,0.155,tolerated,0.06,4.46167,23.8,P07195_R172H,R,H,172,RH,R172H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.188,H,A,1.03,-0.59,,,,0.00157437,0,0.0536891,0.624632
1979,P01116,T,I,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,23453,17920,ENSG00000133703,ENST00000256078,CCDS8703.1,KRAS,0.31,probably_damaging,1,deleterious,0,4.52865,24.4,P01116_T58I,T,I,58,TI,T58I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.8,-3.496,1.696,0.014,E,B,0.7,-0.13,2.065,,76.72,0.00100937,0,0.0344215,0.797672
2167,P15586,R,X,299,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.01,,,,,,,,,7852,13948,ENSG00000135677,ENST00000418919,,GNS,0.6,,,,,6.72154,38,P15586_R299X,R,X,299,RX,R299X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2264,P10916,R,Q,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,4,1154,ENSG00000111245,ENST00000548438,,MYL2,0.29,benign,0.129,tolerated,0.21,3.31275,17.14,P10916_R44Q,R,Q,44,RQ,R44Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00368832,0,0.125779,0.968556
2282,Q06124,S,T,502,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.08,,,,,,,,,70166,20834,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.85,probably_damaging,0.999,deleterious,0,5.24069,33,Q06124_S502T,S,T,502,ST,S502T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,,,,,,,,,,,,0.00122853,0,0.0418952,0.91619
2376,P51587,L,X,2740,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0,,,,,,,,,47941,35790,ENSG00000139618,ENST00000544455,CCDS9344.1,BRCA2,0.8,,,,,17.1619,50,P51587_L2740X,L,X,2740,LX,L2740X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
2499,P03950,I,V,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,0.001,0,0.001,,,,,,4990,292,ENSG00000214274,ENST00000336811,CCDS9554.1,ANG,0.48,benign,0.113,tolerated,0.55,-0.68181,1.031,P03950_I70V,I,V,70,IV,I70V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.297,-1.596,0.299,,E,B,0.04,-1.1,20.696,20.696,76.87,0.0079693,0,0.27177,0.905464
2574,O43405,G,E,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,1260,1663,ENSG00000100473,ENST00000556908,,COCH,0.37,probably_damaging,0.999,deleterious,0,4.89605,28.2,O43405_G72E,G,E,72,GE,G72E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.000244849,0,0.00834986,0.976396
2600,Q10469,S,F,290,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,1344,1322,ENSG00000168282,ENST00000305386,CCDS9690.1,MGAT2,0.65,probably_damaging,0.963,deleterious,0.01,3.43917,17.64,Q10469_S290F,S,F,290,SF,S290F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.286,-3.937,2.651,,,,,,1.323,,63.53,0.00311982,0,0.106392,0.831352
2686,Q02252,G,R,433,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,4010,844,ENSG00000119711,ENST00000350259,,ALDH6A1,0.83,probably_damaging,1,deleterious,0,5.35461,34,Q02252_G433R,G,R,433,GR,G433R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
2706,P49770,E,X,304,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.03,,,,,,,,,561,522,ENSG00000119718,ENST00000266126,CCDS9836.1,EIF2B2,0.87,,,,,5.64202,36,P49770_E304X,E,X,304,EX,E304X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00645296,0,0.220059,0.916522
2718,P16473,S,N,281,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,30587,6475,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.37,probably_damaging,0.936,deleterious,0,5.12155,32,P16473_S281N,S,N,281,SN,S281N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.309,-3.142,1.833,,,,,,2.397,2.363,42.8,0.00066108,0,0.0225442,0.930849
2733,P16473,L,F,629,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,26470,2358,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.82,possibly_damaging,0.867,deleterious,0,3.54316,18.08,P16473_L629F,L,F,629,LF,L629F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-0.725,-2.931,2.206,,,,,,10.04,10.04,26.05,0.000499885,0,0.0170471,0.871294
2734,P16473,F,L,631,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,26466,2354,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.83,probably_damaging,0.997,deleterious,0,4.40926,23.4,P16473_F631L,F,L,631,FL,F631L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-0.688,-3.042,2.354,,,,,,,,,0.000399896,0,0.0136373,0.819346
2735,P16473,D,H,633,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,26460,2348,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.83,probably_damaging,0.997,deleterious,0,3.76187,19.1,P16473_D633H,D,H,633,DH,D633H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-0.888,-4.5,3.612,,,,,,1.748,,28.14,0.00069644,0,0.02375,0.837783
2921,P06865,R,X,148,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.01,,,,,,,,,4892,118,ENSG00000213614,ENST00000566304,,HEXA,0.27,,,,,4.04774,20.8,P06865_R148X,R,X,148,RX,R148X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00312371,0,0.106525,0.951177
3481,P07359,W,X,359,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0,,,,,,,,,1384,1350,ENSG00000185245,ENST00000329125,CCDS54068.1,GP1BA,0.55,,,,,2.91355,15.71,P07359_W359X,W,X,359,WX,W359X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00111834,0,0.0381376,0.889194
3550,Q12887,N,K,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,32626,105284,ENSG00000006695,ENST00000261643,CCDS11166.1,COX10,0.46,probably_damaging,1,deleterious,0,3.55299,18.12,Q12887_N204K,N,K,204,NK,N204K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.079,-3.049,1.97,,,,,,,,,0.00237402,0,0.0809591,0.82677
3606,O00623,L,F,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,2643,1118,ENSG00000108733,ENST00000225873,CCDS11296.1,PEX12,0.88,probably_damaging,0.998,deleterious,0.01,4.52099,24.3,O00623_L317F,L,F,317,LF,L317F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.471,-3.227,1.756,,,,,,13.099,13.099,6.41,0.00604527,0,0.206156,0.866362
3697,P35575,L,L,216,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.47,0.03,,,,,,,,,10202,2370,ENSG00000131482,ENST00000253801,CCDS11446.1,G6PC,0.61,,,,,0.114504,4.616,P35575_L216L,L,L,216,LL,L216L,Hydrophobic,Hydrophobic,9.71,9.71,0,131,131,0,166.7,166.7,0,0,,,,,,,,,,,,,,,0.959945
3784,P05106,K,M,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,33231,4360,ENSG00000259207,ENST00000435993,,ITGB3,0.31,possibly_damaging,0.879,tolerated,0.1,3.75741,19.08,P05106_K232M,K,M,232,KM,K232M,PositiveCharge,Hydrophobic,9.74,5.74,-4,146,149,3,168.6,162.9,-5.7,95,,,,,,,,,,,,0.000537426,0,0.0183273,0.990406
3923,P63252,G,V,300,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,,,,,,,,,6403,386,ENSG00000123700,ENST00000535240,CCDS11688.1,KCNJ2,0.7,probably_damaging,1,deleterious,0,3.1361,16.48,P63252_G300V,G,V,300,GV,G300V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.15,-3.286,2.136,0.011,E,b,0.73,-0.49,6.141,,89.93,0.000343812,0,0.0117247,0.723491
3924,P63252,V,M,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,,,,,,,,,6408,381,ENSG00000123700,ENST00000535240,CCDS11688.1,KCNJ2,0.71,probably_damaging,1,deleterious,0,3.83147,19.46,P63252_V302M,V,M,302,VM,V302M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.304,-3.765,2.461,0.175,E,B,0.11,-0.86,,,,0.000392378,0,0.0133809,0.644764
4037,O15118,Q,P,775,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,,,,,,,,,18988,1625,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.61,probably_damaging,0.998,deleterious,0,4.99225,29.3,O15118_Q775P,Q,P,775,QP,Q775P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-0.834,-3.137,2.303,,,,,,17.73,17.73,30.2,0.000180378,0,0.00615127,0.853449
4045,Q14126,R,Q,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.08,,,,,,,,,21638,2751,ENSG00000046604,ENST00000585206,,DSG2,0.2,,,,,2.1521,13.15,Q14126_R46Q,R,Q,46,RQ,R46Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.101,-3.305,2.204,,,,,,,,,0.00041058,0,0.0140016,0.836032
4082,P02766,S,Y,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,3332,641,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.66,benign,0.35,deleterious,0,2.85011,15.49,P02766_S97Y,S,Y,97,SY,S97Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-2.223,-4.756,2.533,0.512,H,A,0.48,-0.67,1.573,,77.55,0.0107552,0,0.366774,0.757489
4127,Q6UXH8,C,R,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,13469,31562,ENSG00000183287,ENST00000439986,CCDS32838.1,CCBE1,0.43,probably_damaging,0.998,deleterious,0,2.53676,14.44,Q6UXH8_C174R,C,R,174,CR,C174R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.469,-3.928,2.459,,,,,,2.205,,76.85,0.000204357,0,0.00696899,0.852412
4212,P06213,W,S,439,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0,,,,,,,,,123297,58449,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.32,probably_damaging,1,deleterious,0,4.23775,22.1,P06213_W439S,W,S,439,WS,W439S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.301,-3.571,2.27,0.01,.,B,0.74,-1.07,,,,0.000395003,0,0.0134704,0.564143
4279,Q92947,T,I,416,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.08,,,,,,,,,8305,498,ENSG00000105607,ENST00000222214,CCDS12286.1,GCDH,0.95,probably_damaging,0.974,deleterious,0,4.97959,29.1,Q92947_T416I,T,I,416,TI,T416I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.245,-3.296,2.051,0.281,.,B,0.7,-0.93,,,,0.0142876,0,0.487235,0.680715
4697,P22888,C,S,316,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,18973,1101,ENSG00000138039,ENST00000405626,,LHCGR,0.47,probably_damaging,0.991,deleterious,0,4.21332,21.9,P22888_C316S,C,S,316,CS,C316S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,,,,,,,,,,,,0.00172131,0,0.0587001,0.919981
4775,Q16281,T,R,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,0,0,0,,,,,,18754,1303,ENSG00000144191,ENST00000409937,,CNGA3,0.42,probably_damaging,0.988,deleterious,0.02,3.5351,18.04,Q16281_T295R,T,R,295,TR,T295R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.067,-3.525,2.458,,,,,,,,,0.000946404,0,0.0322743,0.734529
4836,P61073,S,X,338,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.04,,,,,,,,,1329,278,ENSG00000121966,ENST00000241393,CCDS46420.1,CXCR4,0.96,,,,,3.98869,20.4,P61073_S338X,S,X,338,SX,S338X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00445997,0,0.152094,0.938958
4848,O00305,C,F,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,0.001,0,0.001,0.001,,,,0.001,91110,4399,ENSG00000182389,ENST00000534999,CCDS46428.1,CACNB4,0.14,probably_damaging,0.999,tolerated,0.35,3.5222,17.99,O00305_C70F,C,F,70,CF,C70F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,0.00170691,0,0.058209,0.904562
4908,P02708,V,F,187,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,14270,2333,ENSG00000138435,ENST00000409542,,CHRNA1,0.5,,,deleterious,0,4.07935,21,P02708_V187F,V,F,187,VF,V187F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,0.000160272,0,0.00546562,0.983234
5000,P07315,R,W,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,0.001,,0.003,,,1605,89,ENSG00000163254,ENST00000282141,CCDS2379.1,CRYGC,0.97,possibly_damaging,0.616,deleterious,0,2.74258,15.13,P07315_R168W,R,W,168,RW,R168W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.526,-5.192,3.666,0.256,E,B,1.67,-0.35,0.553,,83.33,0.0187439,0,0.639207,0.744851
5099,Q01955,R,X,1481,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.03,,,,,,,,,126,3973,ENSG00000169031,ENST00000396578,CCDS42829.1,COL4A3,0.89,,,,,10.067,43,Q01955_R1481X,R,X,1481,RX,R1481X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5123,P22309,Q,R,357,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.09,,,,,,,,,7634,763,ENSG00000241635,ENST00000305208,CCDS2510.1,UGT1A1,0.67,possibly_damaging,0.895,deleterious,0,5.09692,31,P22309_Q357R,Q,R,357,QR,Q357R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.119,-3.133,2.014,0.083,H,A,0.56,0.23,,,,0.000415047,0,0.0141539,0.689361
5293,Q9NPJ1,G,D,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,18563,8176,ENSG00000125863,ENST00000399054,CCDS13111.1,MKKS,0.09,probably_damaging,0.965,deleterious,0,4.50646,24.2,Q9NPJ1_G52D,G,D,52,GD,G52D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.705,-3.378,2.673,,,,,,,,,0.000411076,0,0.0140186,0.80587
5379,P10619,Y,N,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,52,290,ENSG00000064601,ENST00000372484,CCDS13385.2,CTSA,0.54,benign,0.248,deleterious,0.03,2.82466,15.41,P10619_Y267N,Y,N,267,YN,Y267N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,,,,,,,,,,,,0.00435249,0,0.148429,0.917776
5380,P10619,Y,C,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0,,,,,,,,,46,1082,ENSG00000064601,ENST00000372484,CCDS13385.2,CTSA,0.83,probably_damaging,1,deleterious,0,3.81193,19.36,P10619_Y413C,Y,C,413,YC,Y413C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00496221,0,0.169222,0.913336
5453,P05067,V,F,693,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,6200,10271,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.93,probably_damaging,1,deleterious,0,4.99672,29.3,P05067_V693F,V,F,693,VF,V693F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,0.0038879,0,0.132586,0.955386
5454,P05067,V,L,693,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,6200,10271,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.93,probably_damaging,0.996,deleterious,0,5.14902,32,P05067_V693L,V,L,693,VL,V693L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,0.0038879,0,0.132586,0.969187
5457,P05067,T,I,690,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,6192,10279,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.92,possibly_damaging,0.802,deleterious,0,4.99829,29.3,P05067_T690I,T,I,690,TI,T690I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00366105,0,0.124849,0.963657
5458,P05067,T,A,690,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,6191,10280,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.92,possibly_damaging,0.802,deleterious,0,4.86651,27.8,P05067_T690A,T,A,690,TA,T690A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,0.00366105,0,0.124849,0.964051
5459,P05067,A,T,689,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,0,,,,,6188,10283,ENSG00000142192,ENST00000440126,CCDS56212.1,APP,0.92,probably_damaging,0.994,deleterious,0,5.48276,35,P05067_A689T,A,T,689,AT,A689T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00451966,0.0123457,0.15413,0.956278
5483,P00441,G,R,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,7589,44,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.61,probably_damaging,0.971,deleterious,0.01,3.85597,19.59,P00441_G94R,G,R,94,GR,G94R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.3,-3.532,2.232,0.034,S,l,0.91,0.35,4.382,,70.78,0.00422892,0,0.144215,0.730379
5484,P00441,G,C,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,7589,44,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.61,probably_damaging,0.999,deleterious,0.02,3.70874,18.84,P00441_G94C,G,C,94,GC,G94C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.3,-4.996,3.696,0.034,S,l,0.75,0.35,0.695,,70.78,0.00422892,0,0.144215,0.713666
5806,P37231,P,A,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,33,96,ENSG00000132170,ENST00000287820,CCDS2609.1,PPARG,0.08,benign,0.136,deleterious,0.01,3.42132,17.57,P37231_P40A,P,A,40,PA,P40A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.341,-2.715,1.374,,,,,,8.394,,76.83,0.000724254,0,0.0246985,0.981079
5850,P10828,R,Q,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,22085,20673,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.53,probably_damaging,0.978,tolerated,0.07,3.9875,20.4,P10828_R243Q,R,Q,243,RQ,R243Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.572,-3.439,1.867,0.162,.,B,0.56,1,1.507,,86.33,0.00228812,0,0.0780298,0.898885
5851,P10828,R,W,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,22084,20674,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.53,probably_damaging,0.999,deleterious,0,2.27921,13.58,P10828_R243W,R,W,243,RW,R243W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.572,-2.186,0.614,0.162,.,B,1.67,1,42.869,42.869,86.33,0.00228812,0,0.0780298,0.929616
5920,Q14524,W,X,1367,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.01,,,,,,,,,76049,6947,ENSG00000183873,ENST00000449557,,SCN5A,0.7,,,,,9.75444,42,Q14524_W1367X,W,X,1367,WX,W1367X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
6037,O75369,G,S,1691,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,6413,32284,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.65,probably_damaging,1,deleterious,0,5.85822,36,O75369_G1691S,G,S,1691,GS,G1691S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,9.19e-05,0,0.00313519,0.865373
6130,P41180,C,Y,582,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,29537,1589,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.54,probably_damaging,0.999,deleterious,0,3.62354,18.44,P41180_C582Y,C,Y,582,CY,C582Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-0.851,-4.314,3.463,,,,,,0.772,,32.19,0.00028568,0,0.00974229,0.817984
6131,P41180,C,F,582,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,29537,1589,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.54,probably_damaging,0.998,deleterious,0,3.55786,18.14,P41180_C582F,C,F,582,CF,C582F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-0.851,-4.184,3.333,,,,,,1.608,,32.19,0.00028568,0,0.00974229,0.823406
6240,O00400,S,R,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,,,,,,,,,168,8941,ENSG00000169359,ENST00000392845,CCDS3173.1,SLC33A1,0.21,probably_damaging,0.959,deleterious,0,4.13826,21.4,O00400_S113R,S,R,113,SR,S113R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.279,-4.056,2.777,,,,,,1.464,,16.76,0.00202249,0,0.0689711,0.753772
6242,Q96RP9,N,S,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,,,,,,,,,8,115,ENSG00000168827,ENST00000264263,,GFM1,0.23,probably_damaging,0.999,deleterious,0,5.09903,31,Q96RP9_N174S,N,S,174,NS,N174S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.26,-2.671,1.411,,,,,,,,,0.000148956,0,0.00507969,0.927546
6292,P11168,L,P,389,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,27652,1314,ENSG00000163581,ENST00000314251,CCDS3215.1,SLC2A2,0.74,probably_damaging,0.983,deleterious,0.02,1.98355,12.59,P11168_L389P,L,P,389,LP,L389P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.302,-4.058,2.756,,,,,,0.714,,50.95,0.00183975,0,0.0627394,0.829795
6328,Q13144,R,C,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,0,0,0,,,,,,235,326,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.19,probably_damaging,0.997,deleterious,0,3.84758,19.54,Q13144_R136C,R,C,136,RC,R136C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.000302616,0,0.0103198,0.776395
6329,Q13144,T,M,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,4,98,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.25,probably_damaging,0.999,deleterious,0,4.93703,28.6,Q13144_T182M,T,M,182,TM,T182M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.149,-4.257,3.108,,,,,,,,,0.000499895,0,0.0170474,0.8165
6384,Q9H3D4,C,G,467,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,101016,3405,ENSG00000073282,ENST00000354600,CCDS46978.1,TP63,0.8,probably_damaging,0.988,deleterious,0,4.52671,24.4,Q9H3D4_C467G,C,G,467,CG,C467G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,,,,,,,,,,,,0.00247275,0,0.0843258,0.959144
6391,Q9Y5I7,L,F,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,16667,144,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.5,probably_damaging,0.987,deleterious,0,4.17501,21.6,Q9Y5I7_L151F,L,F,151,LF,L151F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.15,-3.487,2.337,,,,,,2.373,,49.84,0.00396152,0,0.135096,0.873818
6492,P09936,I,M,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,112,1173,ENSG00000154277,ENST00000512788,,UCHL1,0.39,probably_damaging,0.944,tolerated,0.06,1.13528,9.627,P09936_I93M,I,M,93,IM,I93M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.44,-3.895,2.455,0.023,H,A,0.07,-1.16,2.019,,63.68,0.00788212,0,0.268796,0.605375
6559,Q9NZW4,R,W,68,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0,0.142,0.309,0.065,0.11,0.02,0.06,0.29,0.09,1512,4486,ENSG00000152591,ENST00000282478,CCDS43248.1,DSPP,0.05,probably_damaging,0.989,,,2.27655,13.57,Q9NZW4_R68W,R,W,68,RW,R68W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.318,-3.088,0.77,,,,,,6.297,6.297,45.58,0.000823231,0,0.0280739,0.977132
6568,P37840,A,P,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0,,,,,,,,,101,5016,ENSG00000145335,ENST00000506244,CCDS3634.1,SNCA,0.21,probably_damaging,0.994,deleterious,0,5.00293,29.4,P37840_A30P,A,P,30,AP,A30P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.175,-3.39,2.215,0.738,H,A,0.52,0.23,,,,0.00437463,0,0.149184,0.719934
6570,O00238,R,W,516,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,50265,54,ENSG00000138696,ENST00000440890,,BMPR1B,0.97,probably_damaging,0.999,deleterious,0,4.44418,23.7,O00238_R516W,R,W,516,RW,R516W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
6588,P01133,P,L,1029,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,39,6952,ENSG00000138798,ENST00000503392,CCDS54794.1,EGF,0.88,benign,0.143,tolerated,0.06,1.01536,9.147,P01133_P1029L,P,L,1029,PL,P1029L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00092491,0,0.0315413,0.98481
7059,P00488,G,R,502,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,146012,30738,ENSG00000124491,ENST00000264870,CCDS4496.1,F13A1,0.69,probably_damaging,0.999,deleterious,0,3.86779,19.65,P00488_G502R,G,R,502,GR,G502R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,0.31,T,g,0.91,0.11,,,,0.00222784,0,0.0759741,0.70845
7191,Q02094,S,N,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,17556,13561,ENSG00000112077,ENST00000229810,,RHAG,0.23,probably_damaging,0.968,deleterious,0,4.15924,21.5,Q02094_S79N,S,N,79,SN,S79N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.413,-3.311,1.898,,,,,,10.532,10.532,76.53,0.00397348,0,0.135504,0.95697
7212,Q9NRA2,K,E,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,0.001,,0.003,,,2654,6577,ENSG00000119899,ENST00000355773,CCDS4981.1,SLC17A5,0.27,probably_damaging,0.991,deleterious,0.01,4.98835,29.2,Q9NRA2_K136E,K,E,136,KE,K136E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.446,-3.632,2.186,,,,,,3.923,,52.93,0.00238848,0,0.0814519,0.855626
7257,P24043,C,Y,527,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,307120,326253,ENSG00000196569,ENST00000421865,CCDS5138.1,LAMA2,0.17,probably_damaging,1,deleterious,0,4.5785,24.9,P24043_C527Y,C,Y,527,CY,C527Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.293,-3.939,2.646,,,,,,,,,,,,0.755141
7268,P05089,W,X,122,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0,,,,,,,,,8026,23,ENSG00000118520,ENST00000368087,CCDS5145.1,ARG1,0.38,,,,,5.09113,31,P05089_W122X,W,X,122,WX,W122X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00117037,0,0.0399121,0.889194
7271,P05089,R,X,205,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.04,,,,,,,,,10558,384,ENSG00000118520,ENST00000476845,,ARG1,0.87,,,,,4.24889,22.1,P05089_R205X,R,X,205,RX,R205X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00435139,0,0.148391,0.938503
7310,P08519,R,X,37,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.03,,,,,,,,,13822,118955,ENSG00000198670,ENST00000316300,CCDS43523.1,LPA,0.02,,,,,2.17108,13.22,P08519_R37X,R,X,37,RX,R37X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7318,P00747,G,R,751,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,10932,14,ENSG00000122194,ENST00000308192,CCDS5279.1,PLG,0.93,probably_damaging,1,deleterious,0.02,3.45738,17.71,P00747_G751R,G,R,751,GR,G751R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,0.092,.,p,0.91,0.13,,,,0.00246842,0,0.0841782,0.610033
7348,Q96DT5,Y,X,4128,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.01,,,,,,,,,337654,20700,ENSG00000105877,ENST00000328843,,DNAH11,0.91,,,,,21.1084,53,Q96DT5_Y4128X,Y,X,4128,YX,Y4128X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
7513,P08123,E,X,1201,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.04,,,,,,,,,1055,860,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.88,,,,,12.762,46,P08123_E1201X,E,X,1201,EX,E1201X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00133185,0,0.0454189,0.902682
7591,P13569,R,W,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,0.001,,,0.002,,60135,126842,ENSG00000001626,ENST00000426809,,CFTR,0.21,probably_damaging,1,deleterious,0,2.70467,15,P13569_R304W,R,W,304,RW,R304W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000351691,0,0.0119934,0.987856
7782,P06858,W,X,15,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.03,,,,,,,,,12535,38,ENSG00000175445,ENST00000520959,,LPL,0.13,,,,,5.67016,36,P06858_W15X,W,X,15,WX,W15X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000999521,0,0.0340857,0.889194
7793,P06858,I,T,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,0,0,0,,,,,,15269,89,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.47,probably_damaging,0.999,deleterious,0,4.5613,24.7,P06858_I221T,I,T,221,IT,I221T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.212,-3.239,2.027,,,,,,,,,0.00167033,0,0.0569617,0.768122
7801,P06858,S,T,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,16905,11383,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.57,probably_damaging,0.953,deleterious,0,4.596,25,P06858_S271T,S,T,271,ST,S271T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.363,-2.871,1.508,,,,,,2.152,,42.95,0.00297744,0,0.101537,0.932796
7896,Q99502,R,X,274,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.09,,,,,,,,,27307,56307,ENSG00000104313,ENST00000388741,,EYA1,0.49,,,,,10.1248,43,Q99502_R274X,R,X,274,RX,R274X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00122067,0,0.0416273,0.901516
8058,P55072,R,C,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,6651,18,ENSG00000165280,ENST00000417448,,VCP,0.95,probably_damaging,0.96,deleterious,0,4.51277,24.3,P55072_R110C,R,C,110,RC,R110C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000791992,0,0.0270086,0.954625
8059,P55072,R,G,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,,,,,,,,,4105,2564,ENSG00000165280,ENST00000417448,,VCP,0.43,benign,0.228,deleterious,0.04,3.19848,16.71,P55072_R50G,R,G,50,RG,R50G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00119014,0,0.0405864,0.885811
8104,Q16595,L,S,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,6786,19604,ENSG00000165060,ENST00000377270,CCDS6626.1,FXN,0.5,probably_damaging,1,deleterious,0,4.21357,21.9,Q16595_L106S,L,S,106,LS,L106S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.039,-3.428,2.389,,H,A,0.82,-0.67,,,,0.00412625,0,0.140713,0.555723
8105,Q16595,L,X,106,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.03,,,,,,,,,6786,19604,ENSG00000165060,ENST00000377270,CCDS6626.1,FXN,0.5,,,,,9.39137,42,Q16595_L106X,L,X,106,LX,L106X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.00412625,0,0.140713,0.957014
8190,Q9Y283,R,X,603,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.04,,,,,,,,,185067,13967,ENSG00000119509,ENST00000262457,CCDS6746.1,INVS,0.57,,,,,7.63975,39,Q9Y283_R603X,R,X,603,RX,R603X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000376471,0,0.0128384,0.977351
8394,P37287,Y,X,98,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.07,,,,,,,,,356,6608,ENSG00000165195,ENST00000333590,CCDS14165.1,PIGA,0.2,,,,,6.00538,37,P37287_Y98X,Y,X,98,YX,Y98X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
8457,P51843,N,I,440,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,3816,467,ENSG00000169297,ENST00000378970,CCDS14223.1,NR0B1,0.94,probably_damaging,0.909,deleterious,0,3.54505,18.08,P51843_N440I,N,I,440,NI,N440I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.635,-3.958,2.323,,,,,,2.197,,72.98,0.0093002,0,0.317156,0.805306
8491,P11532,E,X,2468,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.03,,,,,,,,,62684,44414,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.67,,,,,16.8353,50,P11532_E2468X,E,X,2468,EX,E2468X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8693,P00480,Y,C,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.07,,,,,,,,,2262,43,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.52,probably_damaging,0.978,deleterious,0,4.41282,23.4,P00480_Y183C,Y,C,183,YC,Y183C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-2.276,-3.326,1.05,0.221,H,A,0.25,-0.68,20.888,20.888,65.82,0.00544285,0,0.185613,0.817896
8728,P00480,P,A,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,2372,68,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.62,probably_damaging,0.999,deleterious,0,4.85756,27.7,P00480_P220A,P,A,220,PA,P220A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-0.587,-3.228,2.641,0.023,.,b,0.52,0.38,,,,0.000367165,0,0.0125211,0.70412
8855,Q00604,H,R,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,8789,8839,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.32,possibly_damaging,0.87,deleterious,0.02,4.13466,21.3,Q00604_H42R,H,R,42,HR,H42R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.433,-3.218,1.785,,,,,,,,,0.0104148,0,0.355165,0.852531
8913,P51795,R,P,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.05,,,,,,,,,16863,6045,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.38,probably_damaging,0.999,deleterious,0,4.67881,25.8,P51795_R280P,R,P,280,RP,R280P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.398,-3.615,2.217,,,,,,,,,0.000217273,0,0.00740946,0.803277
8957,P22557,K,Q,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,2840,34,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.5,probably_damaging,0.954,deleterious,0,4.27842,22.4,P22557_K286Q,K,Q,286,KQ,K286Q,PositiveCharge,Polar,9.74,6.24,-3.5,146,146,0,168.6,143.8,-24.8,53,,,,,,,,,,,,0.00102604,0,0.03499,0.924457
8958,P22557,G,S,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,2816,34,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.48,probably_damaging,0.999,deleterious,0,5.58206,35,P22557_G278S,G,S,278,GS,G278S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00219134,0,0.0747292,0.975197
8962,P22557,F,L,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,762,770,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.26,possibly_damaging,0.743,deleterious,0,4.24197,22.1,P22557_F152L,F,L,152,FL,F152L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.00194816,0,0.0664361,0.965864
9007,P10275,K,X,352,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.04,,,,,,,,,154839,209,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.91,,,,,5.27731,33,P10275_K352X,K,X,352,KX,K352X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000868643,0,0.0296225,0.98231
9009,P10275,Q,R,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,154897,151,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.96,benign,0.272,deleterious,0.01,3.45485,17.7,P10275_Q371R,Q,R,371,QR,Q371R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,0.000443715,0,0.0151316,0.996313
9040,P31785,K,X,75,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.03,,,,,,,,,441,6,ENSG00000147168,ENST00000464642,,IL2RG,0.34,,,,,2.5124,14.36,P31785_K75X,K,X,75,KX,K75X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00354086,0,0.120751,0.955443
9100,P00558,D,V,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,11023,5519,ENSG00000102144,ENST00000537456,,PGK1,0.35,probably_damaging,1,deleterious,0,4.23152,22,P00558_D136V,D,V,136,DV,D136V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.00386066,0,0.131656,0.95309
9133,O60220,R,X,80,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.47,0.05,,,,,,,,,2195,883,ENSG00000126953,ENST00000372902,CCDS14481.1,TIMM8A,0.82,,,,,8.09298,40,O60220_R80X,R,X,80,RX,R80X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9139,Q06187,G,D,437,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,721,56,ENSG00000010671,ENST00000372880,,BTK,0.9,probably_damaging,0.968,deleterious,0,4.22492,22,Q06187_G437D,G,D,437,GD,G437D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00072267,0,0.0246445,0.97884
9205,P60201,T,I,43,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0,,,,,,,,,331,273,ENSG00000123560,ENST00000455268,,PLP1,0.32,probably_damaging,0.999,deleterious,0,3.97823,20.4,P60201_T43I,T,I,43,TI,T43I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.398,-3.441,2.043,,,,,,1.521,,50.54,0.00190352,0,0.064914,0.893246
9217,P60201,P,S,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,448,1,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.75,probably_damaging,0.997,deleterious,0.01,4.90805,28.3,P60201_P181S,P,S,181,PS,P181S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.0056792,0,0.193673,0.946191
9248,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.47,0.01,,,,,,,,,119121,9973,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.14279,21.4,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9360,P29400,G,R,811,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0,,,,,,,,,32454,12324,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.48,,,deleterious,0,3.7048,18.82,P29400_G811R,G,R,811,GR,G811R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,2.58e-05,0,0.000881176,0.793499
9361,P29400,G,V,811,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0,,,,,,,,,32455,12323,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.48,,,deleterious,0.02,3.35491,17.3,P29400_G811V,G,V,811,GV,G811V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,2.58e-05,0,0.000881176,0.806553
9368,P29400,G,V,887,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,37917,6861,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.52,,,deleterious,0,3.61872,18.41,P29400_G887V,G,V,887,GV,G887V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,2.43e-05,0,0.000829276,0.806553
9371,P29400,G,E,911,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.01,,,,,,,,,820,4699,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.54,,,deleterious,0,4.21009,21.9,P29400_G911E,G,E,911,GE,G911E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.809,-3.482,2.673,,,,,,,,,2.38e-05,0,0.000810769,0.808191
9410,P29400,G,R,1211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,228463,29197,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.72,,,deleterious,0,3.70232,18.81,P29400_G1211R,G,R,1211,GR,G1211R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,1.24e-05,0,0.000421298,0.793499
9411,P29400,G,E,1211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.04,,,,,,,,,228464,29196,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.72,,,deleterious,0,3.73292,18.96,P29400_G1211E,G,E,1211,GE,G1211E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,1.24e-05,0,0.000421298,0.811426
9552,Q13642,X,E,281,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.47,0.05,,,,,,,,,5302,45,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,1,,,,,3.32785,17.2,Q13642_X281E,X,E,281,XE,X281E,Stop,negativeCharge,5.71,3.22,-2.49,132.5,147,14.5,141.9,138.4,-3.5,,,,,,,,,,,,,0.00371857,0,0.126811,0.957117
9556,P29965,S,R,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.47,0.03,,,,,,,,,8166,3998,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.49,probably_damaging,0.974,tolerated,0.08,3.0495,16.18,P29965_S128R,S,R,128,SR,S128R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.845,-4.089,2.244,0.056,E,B,0.93,-0.6,1.157,,49.81,0.00719891,0.0075188,0.245498,0.504553
41,Q9H6L5,Q,E,238,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.48,0.01,0.011,0.035,0,0.02,,0.01,0.07,,2966,132,ENSG00000154153,ENST00000399793,CCDS43305.1,FAM134B,0.67,benign,0.025,tolerated,1,-2.2765,0.004,Q9H6L5_Q238E,Q,E,238,QE,Q238E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,,,,,,,,,,,,,,,0.961794
58,Q96SN8,A,P,183,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.48,0.07,,,,,,,,,50,8581,ENSG00000136861,ENST00000349780,CCDS6823.1,CDK5RAP2,0.1,possibly_damaging,0.744,deleterious,0,3.91535,19.91,Q96SN8_A183P,A,P,183,AP,A183P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.271,-3.941,2.67,,,,,,2.067,,13.58,,,,0.792078
85,Q96JI7,F,S,463,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.48,0,0.479,0.525,0.456,0.49,0.49,0.57,0.52,0.44,86,18089,ENSG00000104133,ENST00000535302,CCDS53939.1,SPG11,0.2,benign,0.024,tolerated,0.31,1.23438,10.01,Q96JI7_F463S,F,S,463,FS,F463S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-2.246,-2.541,0.295,,,,,,12.27,12.27,87.02,,,,0.923974
97,Q8WXG9,Y,C,2410,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.48,0.03,0.022,0.069,0,0.02,,0.01,0.08,0.003,76,65998,ENSG00000164199,ENST00000405460,CCDS47246.1,GPR98,0.38,probably_damaging,0.972,deleterious,0,2.12517,13.06,Q8WXG9_Y2410C,Y,C,2410,YC,Y2410C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.658,-2.991,1.333,,,,,,26.395,26.395,85.74,,,,0.880904
182,P51681,R,Q,223,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.48,0.05,0.001,0,0.002,0.02,0.08,,,,900,392,ENSG00000160791,ENST00000292303,CCDS2739.1,CCR5,0.63,benign,0.185,tolerated,0.07,2.93463,15.78,P51681_R223Q,R,Q,223,RQ,R223Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.713,-2.57,0.857,,,,,,17.99,17.99,84.09,0.00391398,0,0.154789,0.985055
287,P13671,E,A,98,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.48,0,,,,,,,,,11457,1752,ENSG00000039537,ENST00000263413,CCDS3936.1,C6,0.1,benign,0.29,deleterious,0.02,1.56611,11.19,P13671_E98A,E,A,98,EA,E98A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-2.412,-3.005,0.593,,,,,,23.167,23.167,79.34,0.00105781,0,0.0418342,0.989531
314,P04066,Q,R,286,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.48,0.04,0.268,0.146,0.331,0.25,0.25,0.27,0.13,0.33,13823,9395,ENSG00000179163,ENST00000374479,CCDS244.2,FUCA1,0.61,benign,0.002,deleterious,0.04,0.71772,7.821,P04066_Q286R,Q,R,286,QR,Q286R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-2.771,-3.191,0.42,,,,,,22.813,22.813,84.98,0.00459954,0,0.181902,1.01105
337,P02766,G,S,26,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.48,0.05,0.057,0.017,0.078,0.03,,0.04,0.002,0.08,1025,644,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.18,benign,0.001,tolerated,0.81,-0.150631,3.264,P02766_G26S,G,S,26,GS,G26S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.958,-2.367,0.409,0.425,.,g,0.02,1.96,18.701,18.701,93.88,0.00566536,0.00826446,0.224053,0.969185
400,O15118,M,I,642,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.48,0.04,0.735,0.91,0.645,0.82,0.94,0.77,0.96,0.66,15362,5251,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.5,benign,0,tolerated,1,0.470967,6.557,O15118_M642I,M,I,642,MI,M642I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-3.263,-2.277,-0.986,,,,,,25.092,25.092,87.01,0.00086378,0,0.0341606,1.0382
40,Q13148,N,S,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0,0,0,,,,,,454,281,ENSG00000120948,ENST00000439080,,TARDBP,0.92,benign,0.021,deleterious,0.01,1.39569,10.6,Q13148_N274S,N,S,274,NS,N274S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00189305,0,0.064557,0.974646
41,Q13148,S,L,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,463,272,ENSG00000120948,ENST00000439080,,TARDBP,0.93,benign,0.001,tolerated,0.07,2.1552,13.16,Q13148_S277L,S,L,277,SL,S277L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00166109,0,0.0566466,0.898686
84,P21912,S,F,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,16154,975,ENSG00000117118,ENST00000375499,CCDS176.1,SDHB,0.36,probably_damaging,1,deleterious,0,5.20937,33,P21912_S100F,S,F,100,SF,S100F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-0.768,-4.125,3.357,0.064,.,A,0.85,-0.41,,,,0.000729637,0,0.0248821,0.542537
86,P21912,R,G,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,53,12295,ENSG00000117118,ENST00000375499,CCDS176.1,SDHB,0.16,probably_damaging,1,deleterious,0,3.60122,18.33,P21912_R46G,R,G,46,RG,R46G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-0.854,-3.456,2.602,0.064,E,B,0.91,1.05,1.66,,65.71,0.000938006,0,0.0319879,0.639516
124,P62913,R,X,73,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,1263,1524,ENSG00000142676,ENST00000443624,,RPL11,0.56,,,,,5.33255,34,P62913_R73X,R,X,73,RX,R73X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
151,P54577,G,R,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,654,263,ENSG00000134684,ENST00000373477,CCDS368.1,YARS,0.08,probably_damaging,1,deleterious,0,5.3013,34,P54577_G41R,G,R,41,GR,G41R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.299,E,B,0.91,-0.84,,,,0.00130729,0,0.0445813,0.605236
253,P23786,P,L,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,0,0.001,0,,,,,,3422,103,ENSG00000157184,ENST00000371486,CCDS575.1,CPT2,0.34,probably_damaging,1,deleterious,0,4.65025,25.6,P23786_P227L,P,L,227,PL,P227L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,0.03,.,B,1.07,-0.48,,,,0.000629007,0,0.0214504,0.589729
258,Q15392,K,N,265,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,10591,13495,ENSG00000116133,ENST00000535035,,DHCR24,0.56,benign,0.089,tolerated,0.08,2.72381,15.07,Q15392_K265N,K,N,265,KN,K265N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,,,,,,,,,,,,,,,0.939744
305,P46777,G,S,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,,,,,,,,,328,12,ENSG00000122406,ENST00000370321,CCDS741.1,RPL5,0.47,benign,0.046,tolerated,0.26,1.86851,12.21,P46777_G140S,G,S,140,GS,G140S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.008,-2.842,1.834,,,,,,,,,0.00550153,0.00636943,0.187614,0.866742
310,P78363,P,A,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0,0,0,,,,,,4008,21483,ENSG00000198691,ENST00000536513,,ABCA4,0.09,possibly_damaging,0.511,tolerated,0.08,4.23552,22,P78363_P50A,P,A,50,PA,P50A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,,,,,,,,,,,,,,,0.95904
334,P12107,G,V,860,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,66,1005,ENSG00000060718,ENST00000512756,CCDS780.2,COL11A1,0.51,,,deleterious,0.01,3.66345,18.62,P12107_G860V,G,V,860,GV,G860V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,,,,0.944066
343,P53985,K,E,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0,0,0,,,,,,4597,36,ENSG00000155380,ENST00000369626,CCDS858.1,SLC16A1,0.41,benign,0.11,tolerated,0.72,-1.21244,0.066,P53985_K204E,K,E,204,KE,K204E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-2.059,-3.109,1.05,,,,,,8.242,,88.4,0.00392576,0.00337838,0.133876,0.97867
357,P26439,W,X,171,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,4600,11,ENSG00000203859,ENST00000543831,CCDS902.1,HSD3B2,0.46,,,,,1.74385,11.79,P26439_W171X,W,X,171,WX,W171X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0040156,0,0.13694,0.931205
366,P54868,R,X,382,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,0,0,0,,,,,,15591,4920,ENSG00000134240,ENST00000544913,CCDS53353.1,HMGCS2,0.82,,,,,4.85238,27.7,P54868_R382X,R,X,382,RX,R382X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00114825,0,0.0391578,0.908362
456,P02549,Q,P,471,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,14521,61529,ENSG00000163554,ENST00000368147,,SPTA1,0.19,probably_damaging,0.983,tolerated,0.05,3.82594,19.43,P02549_Q471P,Q,P,471,QP,Q471P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-2.174,-4.192,2.018,,,,,,1.806,,74.62,0.000133711,0,0.00455981,0.903696
494,O75306,S,P,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,423,261,ENSG00000158864,ENST00000392179,CCDS53404.1,NDUFS2,0.9,probably_damaging,0.98,deleterious,0,4.19048,21.7,O75306_S413P,S,P,413,SP,S413P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.656,-3.588,1.932,,,,,,0.357,,24.41,0.003566,0,0.121608,0.903976
498,P25189,G,S,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,153,878,ENSG00000158887,ENST00000360451,,MPZ,0.57,possibly_damaging,0.893,tolerated,0.48,4.28899,22.4,P25189_G147S,G,S,147,GS,G147S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00382576,0.019802,0.130466,0.96591
532,P12259,R,C,2107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,68136,4287,ENSG00000198734,ENST00000367796,,F5,0.95,probably_damaging,0.999,deleterious,0,4.28826,22.4,P12259_R2107C,R,C,2107,RC,R2107C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000590701,0,0.0201441,0.954625
553,Q99972,N,K,480,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,16672,583,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.95,probably_damaging,0.991,deleterious,0,3.38912,17.44,Q99972_N480K,N,K,480,NK,N480K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.138,-3.133,1.995,,,,,,1.839,,33.93,0.00218694,0,0.0745792,0.866495
554,Q99972,I,S,477,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,16662,593,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.95,probably_damaging,0.919,deleterious,0,3.55626,18.13,Q99972_I477S,I,S,477,IS,I477S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-1.649,-3.573,1.924,,,,,,2.715,,83.93,0.00360254,0,0.122854,0.927444
578,P01008,P,L,439,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,13411,159,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.95,probably_damaging,1,deleterious,0,5.20259,33,P01008_P439L,P,L,439,PL,P439L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,0.135,.,B,1.07,-0.1,,,,0.00288479,0,0.0983773,0.605013
581,P01008,R,P,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,13369,201,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.92,probably_damaging,0.923,tolerated,0.12,4.3645,23,P01008_R425P,R,P,425,RP,R425P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.184,-3.697,2.513,0.483,.,B,0.68,0.95,,,,0.00458114,0,0.156226,0.689655
582,P01008,R,H,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,13369,201,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.92,probably_damaging,0.995,tolerated,0.17,4.70269,26.1,P01008_R425H,R,H,425,RH,R425H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,0.483,.,B,1.03,0.95,,,,0.00458114,0,0.156226,0.709121
583,P01008,R,C,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,0.001,0.002,,,,13368,202,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.92,probably_damaging,0.999,tolerated,0.21,4.30953,22.6,P01008_R425C,R,C,425,RC,R425C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.483,.,B,1.66,0.95,,,,0.00458114,0,0.156226,0.651869
584,P01008,G,D,424,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,13366,204,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.91,probably_damaging,0.998,tolerated,0.08,4.17203,21.6,P01008_G424D,G,D,424,GD,G424D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.005,-3.432,2.427,0.092,S,b,0.46,0.05,0.985,,61.42,0.00527646,0,0.179938,0.604108
587,P01008,A,T,414,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,13335,235,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.89,probably_damaging,0.998,deleterious,0.01,5.00401,29.4,P01008_A414T,A,T,414,AT,A414T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.013,-3.014,2.001,,E,B,0.22,-1.07,,,,0.0030424,0,0.103752,0.628719
632,P08603,C,S,367,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,13206,11370,ENSG00000000971,ENST00000359637,,CFH,0.95,probably_damaging,1,deleterious,0,2.64636,14.81,P08603_C367S,C,S,367,CS,C367S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,,,,,,,,,,,,0.000689131,0,0.0235008,0.986047
676,P82279,M,T,522,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,21156,9835,ENSG00000134376,ENST00000544212,,CRB1,0.59,benign,0.098,deleterious,0.03,1.57789,11.23,P82279_M522T,M,T,522,MT,M522T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,,,,0.952152
677,P82279,C,R,662,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,21575,9416,ENSG00000134376,ENST00000544212,,CRB1,0.75,probably_damaging,0.997,deleterious,0,2.40401,14,P82279_C662R,C,R,662,CR,C662R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,,,,0.932506
678,P82279,E,X,39,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.05,,,,,,,,,114,2536,ENSG00000134376,ENST00000448952,,CRB1,0.93,,,,,4.99849,29.3,P82279_E39X,E,X,39,EX,E39X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
760,Q15813,C,X,422,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.11,,,,,,,,,70016,11429,ENSG00000116957,ENST00000543662,,TBCE,0.73,,,,,5.79791,36,Q15813_C422X,C,X,422,CX,C422X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
774,Q8WWZ3,L,R,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,800,47,ENSG00000186197,ENST00000359362,CCDS31065.1,EDARADD,0.55,probably_damaging,0.999,deleterious,0,3.16533,16.59,Q8WWZ3_L112R,L,R,112,LR,L112R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,,,,0.946893
777,Q99707,A,P,410,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,,,,,,,,,31,17503,ENSG00000116984,ENST00000366577,CCDS1614.1,MTR,0.32,probably_damaging,0.999,deleterious,0,5.37613,34,Q99707_A410P,A,P,410,AP,A410P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.088,-3.432,2.344,0.019,.,B,0.52,0.17,,,,0.000163479,0,0.00557498,0.704948
784,Q92736,P,S,2312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,368571,193691,ENSG00000198626,ENST00000542537,,RYR2,0.47,probably_damaging,1,deleterious,0,4.92174,28.5,Q92736_P2312S,P,S,2312,PS,P2312S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,,,,0.954036
812,Q96CV9,R,Q,545,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,0,0,0,0.01,0.04,,,,5447,153,ENSG00000123240,ENST00000378748,CCDS7094.1,OPTN,0.94,benign,0.001,tolerated,1,-0.858162,0.53,Q96CV9_R545Q,R,Q,545,RQ,R545Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.07,-2.122,0.052,,,,,,18.316,18.316,85.62,0.00983672,0,0.335453,0.98675
883,P19367,L,S,564,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,19522,2444,ENSG00000156515,ENST00000448642,,HK1,0.59,probably_damaging,1,deleterious,0,4.78826,27,P19367_L564S,L,S,564,LS,L564S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,,,,,,,,,,,,0.00102691,0,0.0350199,0.89209
955,P36894,A,D,338,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,80451,53,ENSG00000107779,ENST00000224764,CCDS7378.1,BMPR1A,0.64,probably_damaging,0.965,deleterious,0.02,4.83977,27.5,P36894_A338D,A,D,338,AD,A338D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.466,-3.375,1.909,,,,,,2.584,,69.36,,,,0.883785
1012,Q9P212,R,X,1116,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.07,,,,,,,,,165161,71354,ENSG00000138193,ENST00000260766,CCDS41552.1,PLCE1,0.48,,,,,13.2881,47,Q9P212_R1116X,R,X,1116,RX,R1116X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1077,P21802,Y,C,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,101,53,ENSG00000066468,ENST00000336553,,FGFR2,0.43,probably_damaging,0.943,deleterious,0,4.58909,25,P21802_Y286C,Y,C,286,YC,Y286C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.000210895,0,0.00719196,0.957538
1078,P21802,S,C,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,110,62,ENSG00000066468,ENST00000336553,,FGFR2,0.42,benign,0.036,deleterious,0,2.96079,15.87,P21802_S283C,S,C,283,SC,S283C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.000185972,0,0.00634202,0.989891
1088,P21802,A,S,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,1370,126,ENSG00000066468,ENST00000336553,,FGFR2,0.34,benign,0.02,tolerated,0.29,3.18527,16.66,P21802_A226S,A,S,226,AS,A226S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,,,,,,,,,,,,0.000435735,0,0.0148595,0.990508
1098,P04181,P,L,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,0,0,0,,,,,,5325,10,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.93,probably_damaging,0.995,deleterious,0,4.96887,29,P04181_P279L,P,L,279,PL,P279L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00437229,0,0.149104,0.948318
1099,P04181,L,P,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.09,,,,0.001,,,,0.003,5280,36,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.88,probably_damaging,0.994,deleterious,0,4.79843,27.1,P04181_L264P,L,P,264,LP,L264P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.000492928,0,0.0168099,0.981753
1206,P68871,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.48,0.03,0,0,0,,,,,,248,45,ENSG00000244734,ENST00000335295,CCDS7753.1,HBB,,,,,,2.32385,13.73,P68871_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1236,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.48,0.01,,,,,,,,,145,1567,,ENSR00000317299,,,,,,,,1.11559,9.55,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1299,Q9Y6N9,R,X,31,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,243,10385,ENSG00000006611,ENST00000005226,CCDS7825.1,USH1C,0.03,,,,,6.48407,37,Q9Y6N9_R31X,R,X,31,RX,R31X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000366099,0,0.0124847,0.977351
1307,P50461,W,R,4,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0.004,0,0.005,0.003,,0.003,0.002,0.01,9604,10399,ENSG00000129170,ENST00000533783,CCDS7848.1,CSRP3,0.02,possibly_damaging,0.788,deleterious,0,4.68371,25.9,P50461_W4R,W,R,4,WR,W4R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.517,-3.888,2.371,1.287,.,a,1.67,0,1.967,,80.41,0.00310955,0.0105263,0.106042,0.773377
1331,P26367,Q,X,205,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,573,82,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.49,,,,,6.84316,38,P26367_Q205X,Q,X,205,QX,Q205X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00269564,0,0.0919269,0.955443
1332,P26367,R,X,203,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,579,76,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.48,,,,,6.19542,37,P26367_R203X,R,X,203,RX,R203X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00263474,0.00456621,0.0898501,0.951177
1343,P19544,F,L,460,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,25572,2984,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.89,probably_damaging,0.998,deleterious,0,5.19796,33,P19544_F460L,F,L,460,FL,F460L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,,,,0.940953
1344,P19544,R,X,458,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.07,,,,,,,,,25566,2990,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.89,,,,,8.1469,40,P19544_R458X,R,X,458,RX,R458X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1359,P15918,R,C,561,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,0,0,0,,,,,,6960,590,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.54,probably_damaging,0.975,deleterious,0,3.40181,17.49,P15918_R561C,R,C,561,RC,R561C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.189,-5.004,3.815,,,,,,0.795,,84.85,4.49e-05,0,0.00153285,0.837298
1365,P15918,R,W,841,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,7800,251,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.81,probably_damaging,0.975,deleterious,0,3.35061,17.28,P15918_R841W,R,W,841,RW,R841W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.185,-5.135,3.95,,,,,,0.567,,71.33,3.68e-05,0,0.00125356,0.925426
1370,P55895,C,Y,478,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,2020,421,ENSG00000175097,ENST00000311485,CCDS7903.1,RAG2,0.91,probably_damaging,0.995,deleterious,0,3.5566,18.14,P55895_C478Y,C,Y,478,CY,C478Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.351,-4.033,2.682,,,,,,1.076,,59.77,0.0041132,0,0.140269,0.831536
1399,P00734,D,E,556,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,20093,177,ENSG00000180210,ENST00000530231,,F2,0.95,probably_damaging,1,deleterious,0.04,4.33282,22.8,P00734_D556E,D,E,556,DE,D556E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.869,-1.896,0.027,0.646,S,b,0.29,1.66,24.596,24.596,82.96,0.00223021,0,0.0760546,0.957986
1564,P50416,P,L,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.09,,,,,,,,,34842,23049,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.62,probably_damaging,0.981,deleterious,0,3.574,18.21,P50416_P479L,P,L,479,PL,P479L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,0.00183829,0,0.0626894,0.793484
1567,P50416,D,G,454,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,34767,23124,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.59,possibly_damaging,0.774,deleterious,0.03,3.72971,18.94,P50416_D454G,D,G,454,DG,D454G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.057,-2.91,1.853,,,,,,,,,0.000685181,0,0.0233661,0.896266
1568,P50416,A,V,414,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,33622,24269,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.54,possibly_damaging,0.895,deleterious,0,4.03721,20.7,P50416_A414V,A,V,414,AV,A414V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.225,-3.028,1.803,,,,,,3.167,,76.84,0.00140539,0,0.0479268,0.957429
1580,P38935,H,R,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,7633,51,ENSG00000132740,ENST00000255078,CCDS8187.1,IGHMBP2,0.21,possibly_damaging,0.453,tolerated,0.05,3.92191,19.95,P38935_H213R,H,R,213,HR,H213R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.21,-3.3,2.09,,,,,,,,,,,,0.820726
1611,Q9UBM7,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.48,0.04,0,0,0,,,,,,3129,909,ENSG00000172893,ENST00000525346,,DHCR7,0.01,benign,0.286,deleterious,0,2.20462,13.33,Q9UBM7_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.71,-2.846,1.136,,,,,,,,,0.00119167,0,0.0406383,0.871826
1612,Q9UBM7,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.48,0.04,,,,,,,,,3127,911,ENSG00000172893,ENST00000525346,,DHCR7,0.01,benign,0.116,deleterious,0,1.33301,10.38,Q9UBM7_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.71,-2.589,0.879,,,,,,,,,0.00119167,0,0.0406383,0.86978
1653,Q9ULV1,W,C,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,3641,15,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.62,probably_damaging,1,deleterious,0,3.35618,17.31,Q9ULV1_W335C,W,C,335,WC,W335C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.198,-4.639,3.441,,,,,,,,,0.000569042,0,0.0194055,0.766181
1667,P53634,Y,C,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,5398,570,ENSG00000109861,ENST00000227266,CCDS8282.1,CTSC,0.75,probably_damaging,0.999,deleterious,0,4.59497,25,P53634_Y347C,Y,C,347,YC,Y347C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.023,-4.718,3.695,0.022,E,B,0.25,-1.23,,,,0.0051598,0,0.17596,0.547396
1673,P53634,H,P,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0,0,0,,,,,,25248,3209,ENSG00000109861,ENST00000527018,,CTSC,0.34,probably_damaging,0.996,deleterious,0,4.61864,25.2,P53634_H84P,H,P,84,HP,H84P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,,,,,,,,,,,,0.00148972,0,0.0508025,0.912432
1746,P02511,R,G,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,334,31,ENSG00000109846,ENST00000227251,CCDS8351.1,CRYAB,0.69,probably_damaging,1,deleterious,0,3.88815,19.76,P02511_R120G,R,G,120,RG,R120G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-0.777,-2.924,2.147,0.026,E,B,0.91,0,23.016,23.016,46.29,0.00319647,0,0.109006,0.65089
1751,O14521,S,X,32,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,969,7265,ENSG00000204370,ENST00000528182,,SDHD,0.24,,,,,4.1973,21.8,O14521_S32X,S,X,32,SX,S32X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00763132,0.00787402,0.260244,0.918219
1754,O14521,L,P,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,114,6183,ENSG00000204370,ENST00000528182,,SDHD,0.73,benign,0.172,deleterious,0,2.889,15.63,O14521_L95P,L,P,95,LP,L95P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,0.124,H,A,1.07,-0.08,,,,0.009794,0,0.333995,0.605498
1833,Q9H3H5,Y,C,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,14,234,ENSG00000172269,ENST00000409993,CCDS8411.1,DPAGT1,0.42,probably_damaging,0.999,deleterious,0,4.41451,23.4,Q9H3H5_Y170C,Y,C,170,YC,Y170C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.282,-4.598,3.316,,,,,,,,,0.0027277,0,0.0930203,0.744325
1839,O75443,C,S,1619,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,57635,30506,ENSG00000109927,ENST00000264037,CCDS8434.1,TECTA,0.75,probably_damaging,0.998,deleterious,0.01,4.42479,23.5,O75443_C1619S,C,S,1619,CS,C1619S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.293,-3.163,1.87,,,,,,,,,0.000334348,0,0.011402,0.894367
1840,O75443,C,R,1837,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,64037,24104,ENSG00000109927,ENST00000264037,CCDS8434.1,TECTA,0.85,probably_damaging,0.999,deleterious,0,4.36496,23,O75443_C1837R,C,R,1837,CR,C1837R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,,,,,,,,,0.000161681,0,0.00551364,0.797222
1841,O75443,C,G,1837,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,64037,24104,ENSG00000109927,ENST00000264037,CCDS8434.1,TECTA,0.85,probably_damaging,0.998,deleterious,0,4.43401,23.6,O75443_C1837G,C,G,1837,CG,C1837G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.293,-3.36,2.067,,,,,,,,,0.000161681,0,0.00551364,0.839389
1842,O75443,Y,C,1870,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,65410,22731,ENSG00000109927,ENST00000264037,CCDS8434.1,TECTA,0.87,probably_damaging,0.998,deleterious,0,4.5562,24.7,O75443_Y1870C,Y,C,1870,YC,Y1870C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,,,,,,,,,0.000161641,0,0.00551228,0.779226
1863,P48048,S,R,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,2891,183,ENSG00000151704,ENST00000324036,CCDS8477.1,KCNJ1,0.54,probably_damaging,0.99,deleterious,0,3.17857,16.64,P48048_S200R,S,R,200,SR,S200R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,0.001914,0,0.0652713,0.955717
1893,Q09470,A,P,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,1725,6146,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.49,probably_damaging,0.965,deleterious,0,3.46022,17.72,Q09470_A242P,A,P,242,AP,A242P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.175,-3.39,2.215,0.223,T,a,0.52,0.51,,,,0.00125358,0,0.0427497,0.788557
1894,Q09470,P,H,244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.09,,,,,,,,,1732,6139,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.49,probably_damaging,0.98,deleterious,0,3.7702,19.14,Q09470_P244H,P,H,244,PH,P244H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.115,-4.416,3.301,0.677,.,B,0.35,0.77,,,,0.000338088,0,0.0115295,0.802993
1934,P19438,C,Y,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,146,179,ENSG00000067182,ENST00000366159,,TNFRSF1A,0.28,probably_damaging,1,deleterious,0,3.54742,18.1,P19438_C62Y,C,Y,62,CY,C62Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,0.01,B,B,0.25,-0.83,,,,0.000766884,0,0.0261523,0.559335
1935,P19438,C,G,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,145,180,ENSG00000067182,ENST00000366159,,TNFRSF1A,0.28,probably_damaging,1,deleterious,0,3.49269,17.86,P19438_C62G,C,G,62,CG,C62G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.194,-3.4,2.206,0.01,B,B,0.75,-0.83,,,,0.000766884,0,0.0261523,0.586167
1998,Q5S007,R,G,1441,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,11968,58848,ENSG00000188906,ENST00000298910,CCDS31774.1,LRRK2,0.57,probably_damaging,0.961,tolerated,0.05,4.02892,20.7,Q5S007_R1441G,R,G,1441,RG,R1441G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.728,-3.26,1.532,0.098,H,A,0.91,0.05,2.578,,64.54,,,,0.727774
1999,Q5S007,R,C,1441,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,11968,58848,ENSG00000188906,ENST00000298910,CCDS31774.1,LRRK2,0.57,probably_damaging,0.995,deleterious,0.01,4.42267,23.5,Q5S007_R1441C,R,C,1441,RC,R1441C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.728,-4.768,3.04,0.098,H,A,1.66,0.05,0.583,,64.54,,,,0.583823
2000,Q5S007,R,H,1441,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,11969,58847,ENSG00000188906,ENST00000298910,CCDS31774.1,LRRK2,0.57,probably_damaging,0.985,deleterious,0.04,4.41498,23.4,Q5S007_R1441H,R,H,1441,RH,R1441H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.728,-4.378,2.65,0.098,H,A,1.03,0.05,1.976,,64.54,,,,0.67311
2002,Q5S007,G,S,2019,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,0,0,0.001,0.001,,0.003,,,41934,28882,ENSG00000188906,ENST00000298910,CCDS31774.1,LRRK2,0.8,probably_damaging,1,deleterious,0,5.61608,36,Q5S007_G2019S,G,S,2019,GS,G2019S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,,,,0.814173
2079,P49281,R,C,416,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0,0,0,,,,,,82,692,ENSG00000110911,ENST00000541174,CCDS8805.1,SLC11A2,0.74,probably_damaging,1,deleterious,0,4.60702,25.1,P49281_R416C,R,C,416,RC,R416C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.665,-4.953,3.288,,,,,,0.8,,88.56,0.00079407,0,0.0270794,0.83258
2111,P13647,S,P,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,139,5,ENSG00000186081,ENST00000551275,,KRT5,0.99,probably_damaging,0.996,deleterious,0,4.34772,22.9,P13647_S146P,S,P,146,SP,S146P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.00106591,0,0.0363497,0.922762
2198,P00439,D,N,415,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,76783,2151,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.92,benign,0.031,tolerated,1,0.407411,6.213,P00439_D415N,D,N,415,DN,D415N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.663,-1.8,0.137,0.146,E,B,0.14,-0.83,28.729,28.729,90.71,0.00615105,0,0.209763,0.951226
2199,P00439,Y,C,414,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0,0,0,,,,,,76781,2153,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.92,probably_damaging,1,deleterious,0,4.0891,21,P00439_Y414C,Y,C,414,YC,Y414C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.282,-4.598,3.316,0.166,E,B,0.25,-0.78,,,,0.00403278,0,0.137526,0.555729
2200,P00439,R,P,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,76778,2156,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.91,possibly_damaging,0.873,deleterious,0.01,3.46624,17.75,P00439_R413P,R,P,413,RP,R413P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.543,-3.691,2.148,0.534,E,B,0.68,0.82,1.693,,92.92,0.00575571,0,0.196281,0.819311
2201,P00439,R,Q,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,76763,2171,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.9,probably_damaging,0.981,deleterious,0,4.68947,25.9,P00439_R408Q,R,Q,408,RQ,R408Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.511,-3.26,1.749,0.128,.,B,0.56,-0.07,4.123,,77.43,0.00531675,0,0.181312,0.7977
2202,P00439,R,W,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0.001,0,0.002,0.001,,,0.002,0.001,76762,2172,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.9,probably_damaging,1,deleterious,0,3.74634,19.02,P00439_R408W,R,W,408,RW,R408W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.511,-5.133,3.622,0.128,.,B,1.67,-0.07,0.362,,77.43,0.00531675,0,0.181312,0.63078
2205,P00439,T,M,380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0,0,0.001,,,,,,8555,9,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.84,probably_damaging,0.992,deleterious,0,3.16477,16.59,P00439_T380M,T,M,380,TM,T380M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.428,-4.21,2.782,0.683,S,B,0.77,0.11,0.688,,31.86,0.00115671,0,0.0394461,0.768115
2206,P00439,S,X,359,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,8492,55,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.79,,,,,6.43984,37,P00439_S359X,S,X,359,SX,S359X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00549769,0,0.187483,0.935181
2212,P00439,I,V,306,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,5313,3234,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.68,possibly_damaging,0.528,deleterious,0.03,3.35435,17.3,P00439_I306V,I,V,306,IV,I306V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.436,-2.139,0.703,,H,A,0.04,-1.02,,,,0.00245265,0,0.0836405,0.860995
2280,Q06124,G,A,464,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,69540,21460,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.78,probably_damaging,1,deleterious,0,5.08918,31,Q06124_G464A,G,A,464,GA,G464A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,,,,,,,,,,,,0.00222894,0,0.0760113,0.973957
2281,Q06124,T,M,468,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,69552,21448,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.79,probably_damaging,0.993,deleterious,0.01,4.76412,26.7,Q06124_T468M,T,M,468,TM,T468M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00135441,0,0.0461882,0.914857
2283,Q06124,Q,P,510,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,70191,20809,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.86,probably_damaging,0.993,deleterious,0,4.79988,27.1,Q06124_Q510P,Q,P,510,QP,Q510P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.699,-3.336,1.637,0.459,.,A,0.12,0.06,,,,0.00186939,0,0.0637499,0.875623
2284,Q06124,Q,R,510,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,70191,20809,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.86,possibly_damaging,0.54,deleterious,0.01,4.87901,28,Q06124_Q510R,Q,R,510,QR,Q510R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.699,-2.94,1.241,0.459,.,A,0.56,0.06,,,,0.00186939,0,0.0637499,0.878016
2290,Q99593,I,T,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,1992,7029,ENSG00000089225,ENST00000405440,CCDS9173.1,TBX5,0.1,benign,0.187,deleterious,0.02,2.83912,15.46,Q99593_I54T,I,T,54,IT,I54T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.595,-3.232,1.637,0.278,.,B,0.7,1.1,2.721,,77.61,0.00208355,0,0.0710535,0.9173
2297,Q9UJY1,K,N,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,,,,,,,,,280,6749,ENSG00000152137,ENST00000281938,CCDS9189.1,HSPB8,0.72,probably_damaging,0.997,deleterious,0,4.78857,27,Q9UJY1_K141N,K,N,141,KN,K141N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-1.166,-3.225,2.059,,,,,,,,,0.00298048,0,0.101641,0.814702
2360,O95452,G,R,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,7529,1479,ENSG00000121742,ENST00000241124,CCDS9291.1,GJB6,0.04,probably_damaging,0.946,deleterious,0.01,2.16471,13.2,O95452_G11R,G,R,11,GR,G11R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.3,-3.529,2.229,,,,,,5.627,,52.49,0.00408436,0,0.139285,0.838398
2375,P51587,L,P,2510,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,41041,42690,ENSG00000139618,ENST00000544455,CCDS9344.1,BRCA2,0.73,probably_damaging,1,deleterious,0,4.605,25.1,P51587_L2510P,L,P,2510,LP,L2510P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.849,-4.043,3.194,0.036,T,A,1.07,-0.84,,,,,,,0.552596
2433,P35670,A,V,444,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,11800,9045,ENSG00000123191,ENST00000400370,,ATP7B,0.43,benign,0.291,deleterious,0,3.59757,18.32,P35670_A444V,A,V,444,AV,A444V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.000835158,0.000979432,0.0284806,0.99313
2486,P00491,R,X,97,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,917,733,ENSG00000198805,ENST00000553591,,PNP,0.44,,,,,4.87929,28,P00491_R97X,R,X,97,RX,R97X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0062613,0,0.213523,0.910853
2540,P12883,R,Q,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,4251,18730,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.13,possibly_damaging,0.864,deleterious,0,3.44275,17.65,P12883_R249Q,R,Q,249,RQ,R249Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,0.205,E,B,0.56,0,,,,0.000102664,0,0.00350106,0.823972
2618,P06737,R,X,399,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.05,,,,,,,,,72,679,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.47,,,,,9.05728,41,P06737_R399X,R,X,399,RX,R399X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000171668,0,0.00585424,0.977351
2630,P30793,G,E,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,56655,2796,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.94,probably_damaging,1,deleterious,0,3.67416,18.67,P30793_G201E,G,E,201,GE,G201E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.082,-3.262,2.18,0.023,E,b,0.75,0.06,4.178,,58.8,0.00131946,0,0.0449964,0.647928
2632,P30793,A,S,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,56639,2812,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.92,possibly_damaging,0.764,deleterious,0.04,4.78232,26.9,P30793_A196S,A,S,196,AS,A196S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.013,-2.753,1.74,0.301,H,a,0.27,0.18,,,,0.00604123,0,0.206019,0.839302
2690,P61916,Q,X,146,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,503,520,ENSG00000119655,ENST00000557510,,NPC2,0.84,,,,,2.05113,12.82,P61916_Q146X,Q,X,146,QX,Q146X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0210035,0.2,0.716263,0.93981
2693,P61916,C,X,47,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,6865,1967,ENSG00000119655,ENST00000555592,,NPC2,0.39,,,,,2.27813,13.57,P61916_C47X,C,X,47,CX,C47X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00284727,0,0.0970977,0.953637
2694,P61916,Q,X,45,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,6857,1975,ENSG00000119655,ENST00000555592,,NPC2,0.37,,,,,1.84574,12.13,P61916_Q45X,Q,X,45,QX,Q45X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0146917,0,0.501018,0.93981
2708,P49770,G,V,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,637,446,ENSG00000119718,ENST00000266126,CCDS9836.1,EIF2B2,0.94,probably_damaging,0.998,deleterious,0,5.25253,33,P49770_G329V,G,V,329,GV,G329V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,,,,,,,,,0.0113311,0,0.386415,0.748764
2719,P16473,R,C,310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,27429,3317,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.41,possibly_damaging,0.833,deleterious,0.02,3.673,18.67,P16473_R310C,R,C,310,RC,R310C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.244,-3.818,1.574,,,,,,20.939,20.939,86.39,0.00162844,0.00220264,0.0555332,0.935723
2721,P16473,C,W,390,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,27187,3075,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.51,probably_damaging,0.998,deleterious,0,2.49231,14.29,P16473_C390W,C,W,390,CW,C390W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.045,-5.284,4.239,,,,,,1.101,,46.6,0.00115025,0,0.0392257,0.792412
2748,Q9UBX5,G,R,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0,0,0,,,,,,55839,21193,ENSG00000140092,ENST00000556154,,FBLN5,0.46,possibly_damaging,0.831,deleterious,0.02,4.33541,22.8,Q9UBX5_G207R,G,R,207,GR,G207R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
2749,Q9UBX5,I,T,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,55741,21291,ENSG00000140092,ENST00000556154,,FBLN5,0.38,probably_damaging,0.982,deleterious,0,4.09743,21.1,Q9UBX5_I174T,I,T,174,IT,I174T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,,,,0.951663
2775,Q04671,A,T,481,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0.001,0,0.002,0.02,0.04,0.01,,0.01,115906,32898,ENSG00000104044,ENST00000354638,CCDS10020.1,OCA2,0.57,probably_damaging,0.916,tolerated,0.08,4.80801,27.2,Q04671_A481T,A,T,481,AT,A481T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,,,,,,,,,0.00111585,0,0.0380527,0.837093
2781,Q9UHW9,R,X,1011,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.08,,,,,,,,,1678,366,ENSG00000140199,ENST00000560611,,SLC12A6,0.88,,,,,9.30055,42,Q9UHW9_R1011X,R,X,1011,RX,R1011X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00145433,0,0.0495956,0.900587
2803,Q06609,R,Q,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0.001,0.004,0,0.002,,,0.01,,17687,10,ENSG00000051180,ENST00000423169,CCDS53932.1,RAD51,0.54,benign,0.002,tolerated,0.99,1.22646,9.975,Q06609_R150Q,R,Q,150,RQ,R150Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.906,-2.013,0.107,,,,,,19.437,19.437,90.86,0.00521146,0,0.177721,1.01224
2804,P20807,S,F,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,475,44227,ENSG00000092529,ENST00000397163,CCDS45245.1,CAPN3,0.1,probably_damaging,0.999,deleterious,0,4.80282,27.1,P20807_S86F,S,F,86,SF,S86F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.348,-3.803,2.455,,,,,,,,,0.000912858,0,0.0311303,0.801061
2864,P11511,C,Y,437,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,4978,29,ENSG00000137869,ENST00000559878,CCDS10139.1,CYP19A1,0.87,probably_damaging,1,deleterious,0,4.79955,27.1,P11511_C437Y,C,Y,437,CY,C437Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,0.467,.,b,0.25,-1.27,,,,0.00388093,0,0.132348,0.520171
2919,P06865,R,Q,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,7325,1997,ENSG00000213614,ENST00000566304,,HEXA,0.34,probably_damaging,0.999,deleterious,0,5.93349,36,P06865_R181Q,R,Q,181,RQ,R181Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00348099,0,0.118709,0.968556
2926,Q96RK4,R,P,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,17,38,ENSG00000140463,ENST00000569338,,BBS4,0.96,probably_damaging,0.998,deleterious,0,4.47448,23.9,Q96RK4_R269P,R,P,269,RP,R269P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00191761,0,0.0653946,0.945389
3369,P15559,P,S,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0.197,0.195,0.199,0.28,0.42,0.33,0.18,0.2,1368,280,ENSG00000181019,ENST00000379047,CCDS32472.1,NQO1,0.64,benign,0.366,tolerated,0.05,4.44222,23.7,P15559_P153S,P,S,153,PS,P153S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.00538577,0,0.183666,0.953135
3372,P17735,R,X,57,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,846,844,ENSG00000198650,ENST00000355962,CCDS10903.1,TAT,0.13,,,,,5.18289,32,P17735_R57X,R,X,57,RX,R57X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00261623,0,0.0892189,0.951177
3388,#N/A,I,T,423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,415,7020,ENSG00000127688,ENST00000248272,CCDS10935.1,GAN,0.71,possibly_damaging,0.78,deleterious,0,4.73763,26.4,#N/A_I423T,I,T,423,IT,I423T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,,,,0.951663
3394,O95822,S,X,187,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.05,0,0,0,,,,,,7892,9165,ENSG00000103150,ENST00000262430,CCDS42206.1,MLYCD,0.38,,,,,3.78104,19.2,O95822_S187X,S,X,187,SX,S187X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
3479,P07359,G,V,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,1053,1681,ENSG00000185245,ENST00000329125,CCDS54068.1,GP1BA,0.38,possibly_damaging,0.883,deleterious,0,2.79292,15.3,P07359_G249V,G,V,249,GV,G249V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.952,-3.689,2.737,0.46,S,B,0.73,2.37,1.436,,58.53,0.00100889,0,0.0344053,0.77347
3502,O75352,G,E,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,,,,,,,,,476,187,ENSG00000129255,ENST00000581380,,MPDU1,0.41,,,,,2.77449,15.24,O75352_G63E,G,E,63,GE,G63E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.0078588,0,0.268001,0.930516
3547,P11055,A,T,234,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,3377,985,ENSG00000109063,ENST00000583535,CCDS11157.1,MYH3,0.12,possibly_damaging,0.484,deleterious,0.01,4.60929,25.2,P11055_A234T,A,T,234,AT,A234T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.337,-3.007,1.67,,E,B,0.22,0,4.166,,83.45,7e-05,0,0.0023872,0.868581
3549,Q12887,T,K,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,32601,105309,ENSG00000006695,ENST00000261643,CCDS11166.1,COX10,0.44,probably_damaging,0.999,deleterious,0,4.66359,25.7,Q12887_T196K,T,K,196,TK,T196K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.067,-3.274,2.207,,,,,,,,,0.00250521,0,0.0854327,0.807834
3580,P51648,N,S,386,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,1611,10751,ENSG00000072210,ENST00000176643,CCDS11210.1,ALDH3A2,0.8,probably_damaging,1,deleterious,0,4.66158,25.7,P51648_N386S,N,S,386,NS,N386S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.079,-2.753,1.674,0.025,S,l,0.34,-0.65,,,,0.0014334,0,0.0488817,0.77907
3586,Q8IUD6,Q,X,243,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,9212,240,ENSG00000181481,ENST00000328381,CCDS11262.1,RNF135,0.56,,,,,9.74707,42,Q8IUD6_Q243X,Q,X,243,QX,Q243X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00312351,0,0.106518,0.955443
3605,O00623,S,F,320,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,2653,1108,ENSG00000108733,ENST00000225873,CCDS11296.1,PEX12,0.89,probably_damaging,0.982,deleterious,0,4.85688,27.7,O00623_S320F,S,F,320,SF,S320F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-0.896,-4.299,3.403,,,,,,3.877,,10.86,0.0051104,0,0.174275,0.720834
3624,P13645,N,H,154,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,470,4009,ENSG00000186395,ENST00000269576,CCDS11377.1,KRT10,0.26,probably_damaging,0.998,deleterious,0,4.54755,24.6,P13645_N154H,N,H,154,NH,N154H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,-1.008,-3.861,2.853,,,,,,,,,0.000473435,0,0.0161451,0.815611
3694,P35575,A,T,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,6754,5818,ENSG00000131482,ENST00000253801,CCDS11446.1,G6PC,0.35,possibly_damaging,0.558,deleterious,0,5.27528,33,P35575_A124T,A,T,124,AT,A124T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.013,-3.014,2.001,,,,,,,,,,,,0.815467
3695,P35575,V,G,166,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,8555,4017,ENSG00000131482,ENST00000253801,CCDS11446.1,G6PC,0.46,probably_damaging,0.925,deleterious,0,4.57775,24.9,P35575_V166G,V,G,166,VG,V166G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.201,-3.36,2.159,,,,,,,,,,,,0.748535
3786,P05106,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.48,0.03,,,,,,,,,1085,34,ENSG00000259207,ENST00000435993,,ITGB3,,,,,,4.34895,22.9,P05106_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3915,P10644,R,C,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,0,0,0,,,,,,10348,9961,ENSG00000108946,ENST00000392711,CCDS11678.1,PRKAR1A,0.19,possibly_damaging,0.596,deleterious,0.02,4.94025,28.7,P10644_R74C,R,C,74,RC,R74C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.735,-4.659,2.924,,,,,,1.49,,93.96,0.00282919,0,0.0964811,0.818054
3919,P63252,D,N,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,6018,771,ENSG00000123700,ENST00000535240,CCDS11688.1,KCNJ2,0.4,probably_damaging,1,tolerated,0.53,2.87165,15.57,P63252_D172N,D,N,172,DN,D172N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.139,-2.958,1.819,0.457,H,A,0.14,-0.27,,,,0.00101394,0,0.0345775,0.883034
4042,Q16787,R,X,2315,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,34843,47201,ENSG00000053747,ENST00000313654,CCDS42419.1,LAMA3,0.69,,,,,14.4242,48,Q16787_R2315X,R,X,2315,RX,R2315X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4046,Q14126,R,H,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,21647,2742,ENSG00000046604,ENST00000585206,,DSG2,0.21,,,,,2.28144,13.59,Q14126_R49H,R,H,49,RH,R49H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,1.009,.,b,1.03,0,,,,0.000318711,0,0.0108687,0.799335
4052,Q14126,C,Y,507,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,38255,12711,ENSG00000046604,ENST00000261590,CCDS42423.1,DSG2,0.45,probably_damaging,0.998,deleterious,0,2.83919,15.46,Q14126_C507Y,C,Y,507,CY,C507Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.073,-4.037,2.964,,,,,,,,,0.000256007,0,0.00873037,0.78757
4054,P02766,C,R,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,1037,632,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.2,probably_damaging,0.988,deleterious,0,3.41501,17.54,P02766_C30R,C,R,30,CR,C30R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-2.146,-3.477,1.331,0.19,.,l,1.66,1.22,19.893,19.893,58.5,0.00759866,0.00854701,0.25913,0.80273
4214,P06213,R,X,399,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.09,,,,,,,,,121638,60108,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.29,,,,,7.37437,39,P06213_R399X,R,X,399,RX,R399X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000368465,0,0.0125654,0.977351
4221,P06213,V,A,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,26168,155578,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.04,probably_damaging,0.982,deleterious,0,4.24018,22.1,P06213_V55A,V,A,55,VA,V55A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.419,-2.783,1.364,0.017,E,B,0.44,-0.93,4.151,,88.42,0.000439144,0,0.0149757,0.785823
4222,P06213,N,K,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,26130,155616,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.03,probably_damaging,0.993,deleterious,0,3.04485,16.16,P06213_N42K,N,K,42,NK,N42K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.321,-3.131,1.81,0.569,S,g,1.73,0.07,3.491,,76.56,0.000445739,0,0.0152006,0.91695
4287,O00555,F,C,1402,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,244730,54182,ENSG00000141837,ENST00000573710,,CACNA1A,0.56,probably_damaging,1,,,3.06225,16.22,O00555_F1402C,F,C,1402,FC,F1402C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,,,,,,,,,,,,0.000239574,0,0.00816996,0.956177
4288,O00555,Y,C,1383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,244673,54239,ENSG00000141837,ENST00000573710,,CACNA1A,0.55,probably_damaging,0.994,,,3.01208,16.05,O00555_Y1383C,Y,C,1383,YC,Y1383C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.000111135,0,0.00378992,0.965179
4506,Q8WX94,N,S,885,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0.001,0.002,0,0.002,0.002,,0.004,0.001,16935,7056,ENSG00000167634,ENST00000448121,CCDS12912.1,NLRP7,0.88,probably_damaging,0.957,deleterious,0,1.84925,12.14,Q8WX94_N885S,N,S,885,NS,N885S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,,,,0.952307
4532,Q14693,R,X,118,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.08,,,,,,,,,36,112,ENSG00000134324,ENST00000396097,,LPIN1,0.19,,,,,7.98862,40,Q14693_R118X,R,X,118,RX,R118X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4551,P04114,R,X,1333,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,30695,11950,ENSG00000084674,ENST00000233242,CCDS1703.1,APOB,0.29,,,,,7.82476,39,P04114_R1333X,R,X,1333,RX,R1333X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4627,Q16678,R,W,469,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,0,0,0,,,,,,252,39,ENSG00000138061,ENST00000407341,CCDS1793.1,CYP1B1,0.86,probably_damaging,1,deleterious,0,3.09333,16.33,Q16678_R469W,R,W,469,RW,R469W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.064,-5.197,4.133,0.333,.,B,1.67,-0.01,,,,0.00183611,0,0.0626151,0.671918
4711,Q92968,W,X,234,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,14306,164,ENSG00000162928,ENST00000295030,CCDS1866.1,PEX13,0.58,,,,,4.2605,22.2,Q92968_W234X,W,X,234,WX,W234X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00340863,0,0.116241,0.931205
4745,P38435,R,H,476,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,1376,52,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.63,probably_damaging,1,deleterious,0,4.85661,27.7,P38435_R476H,R,H,476,RH,R476H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.000416087,0,0.0141894,0.825824
4746,P38435,R,C,476,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,1375,51,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.63,probably_damaging,1,deleterious,0,4.56163,24.7,P38435_R476C,R,C,476,RC,R476C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.000416087,0,0.0141894,0.776395
4810,P19447,F,S,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,1310,350,ENSG00000163161,ENST00000493187,,ERCC3,0.05,probably_damaging,0.999,deleterious,0,4.80489,27.1,P19447_F35S,F,S,35,FS,F35S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,0.000735035,0,0.0250662,0.955187
4837,P61073,R,X,334,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,1316,291,ENSG00000121966,ENST00000241393,CCDS46420.1,CXCR4,0.95,,,,,5.09328,31,P61073_R334X,R,X,334,RX,R334X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00343428,0,0.117116,0.951177
4902,O75746,Q,R,590,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,1306,2805,ENSG00000115840,ENST00000422440,CCDS33327.1,SLC25A12,0.87,probably_damaging,0.994,deleterious,0,4.87418,27.9,O75746_Q590R,Q,R,590,QR,Q590R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.489,-2.993,1.504,,,,,,,,,,,,0.866101
4935,P02461,G,R,303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,4,2631,ENSG00000168542,ENST00000317840,,COL3A1,0.26,,,deleterious,0,3.30506,17.11,P02461_G303R,G,R,303,GR,G303R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.082,-3.424,2.342,,,,,0,7.487,,69.85,2.48e-05,0,0.000844513,0.669949
4937,P02461,G,S,582,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,22106,16268,ENSG00000168542,ENST00000317840,,COL3A1,0.5,,,deleterious,0,4.66193,25.7,P02461_G582S,G,S,582,GS,G582S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,,,,,0,,,,2.12e-05,0,0.000722216,0.696146
4941,P02461,G,S,804,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,27943,10431,ENSG00000168542,ENST00000317840,,COL3A1,0.69,,,deleterious,0,4.54344,24.5,P02461_G804S,G,S,804,GS,G804S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,0,,,,1.62e-05,0,0.000551259,0.72721
4948,P02461,G,E,1101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,757,4503,ENSG00000168542,ENST00000304636,CCDS2297.1,COL3A1,0.75,probably_damaging,1,deleterious,0,3.80752,19.33,P02461_G1101E,G,E,1101,GE,G1101E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.763,-3.521,2.758,,,,,0,,,,0.000148546,0,0.00506572,0.671828
4960,Q9NP59,A,D,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,5540,41,ENSG00000138449,ENST00000261024,CCDS2299.1,SLC40A1,0.13,probably_damaging,0.99,deleterious,0.01,5.27427,33,Q9NP59_A77D,A,D,77,AD,A77D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.088,-3.471,2.383,,,,,,,,,0.00175746,0,0.0599329,0.764923
4986,Q13873,D,G,485,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,175322,14996,ENSG00000204217,ENST00000374574,,BMPR2,0.92,probably_damaging,0.999,deleterious,0,4.94779,28.8,Q13873_D485G,D,G,485,DG,D485G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.057,-2.91,1.853,0.317,.,B,0.46,-0.81,,,,0.000291313,0,0.00993436,0.805093
4987,Q13873,R,W,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,175339,14979,ENSG00000204217,ENST00000374574,,BMPR2,0.93,probably_damaging,1,deleterious,0,4.57438,24.8,Q13873_R491W,R,W,491,RW,R491W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,0.06,S,B,1.67,-0.99,,,,0.000199131,0,0.00679079,0.525229
4988,Q13873,R,Q,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,175340,14978,ENSG00000204217,ENST00000374574,,BMPR2,0.93,probably_damaging,0.999,deleterious,0,5.82221,36,Q13873_R491Q,R,Q,491,RQ,R491Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,0.06,S,B,0.56,-0.99,,,,0.000199131,0,0.00679079,0.673723
5010,Q86UK0,G,S,1333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,53257,46208,ENSG00000144452,ENST00000389661,CCDS33373.1,ABCA12,0.59,probably_damaging,0.998,deleterious,0,5.4689,35,Q86UK0_G1333S,G,S,1333,GS,G1333S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,,,,0.954663
5019,Q9NZC9,R,X,17,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,256,10,ENSG00000138375,ENST00000357276,CCDS2403.1,SMARCAL1,0.02,,,,,6.59671,37,Q9NZC9_R17X,R,X,17,RX,R17X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000197787,0,0.00674494,0.977351
5094,P53420,S,X,1238,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,132065,24724,ENSG00000081052,ENST00000329662,,COL4A4,0.73,,,,,8.95381,41,P53420_S1238X,S,X,1238,SX,S1238X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
5097,Q01955,G,V,985,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,64,1818,ENSG00000169031,ENST00000396578,CCDS42829.1,COL4A3,0.59,,,deleterious,0,2.3778,13.91,Q01955_G985V,G,V,985,GV,G985V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.323,-3.299,1.976,,,,,,1.628,1.628,11.08,,,,0.792543
5116,Q6Y7W6,I,V,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,0.001,0.002,,,,2353,34,ENSG00000204120,ENST00000423659,,GIGYF2,0.31,benign,0.045,tolerated,0.38,1.19902,9.871,Q6Y7W6_I221V,I,V,221,IV,I221V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.000543225,0,0.0185251,1.00528
5279,P04156,Q,X,160,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.08,,,,,,,,,13155,174,ENSG00000171867,ENST00000424424,,PRNP,0.64,,,,,3.91093,19.89,P04156_Q160X,Q,X,160,QX,Q160X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00690817,0,0.235583,0.929548
5300,Q15437,R,W,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,0,0,0,,,,,,103,57,ENSG00000101310,ENST00000377475,CCDS13137.1,SEC23B,0.02,probably_damaging,0.983,deleterious,0.05,4.15016,21.4,Q15437_R14W,R,W,14,RW,R14W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.683,-5.003,3.32,,,,,,0.567,,85.4,0.00153074,0,0.0522015,0.859638
5302,Q15437,R,X,217,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,0,0,0,,,,,,16918,1552,ENSG00000101310,ENST00000377475,CCDS13137.1,SEC23B,0.28,,,,,5.83296,36,Q15437_R217X,R,X,217,RX,R217X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00207414,0,0.0707325,0.959275
5303,Q15437,R,X,264,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,0,0,0,,,,,,17826,644,ENSG00000101310,ENST00000377475,CCDS13137.1,SEC23B,0.34,,,,,8.09829,40,Q15437_R264X,R,X,264,RX,R264X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000294825,0,0.0100542,0.977351
5318,Q9UBC3,V,G,718,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,22564,5865,ENSG00000088305,ENST00000201963,CCDS13204.1,DNMT3B,0.85,probably_damaging,1,deleterious,0,4.93811,28.6,Q9UBC3_V718G,V,G,718,VG,V718G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,,,,,,,,,,,,0.00268815,0,0.0916715,0.93939
5319,Q9UBC3,V,G,738,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,25491,2938,ENSG00000088305,ENST00000201963,CCDS13204.1,DNMT3B,0.87,possibly_damaging,0.489,deleterious,0.02,4.36866,23,Q9UBC3_V738G,V,G,738,VG,V738G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,,,,,,,,,,,,0.00133692,0,0.0455918,0.889605
5329,P48637,R,W,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,11119,6783,ENSG00000100983,ENST00000216951,CCDS13245.1,GSS,0.56,probably_damaging,1,deleterious,0,4.10365,21.1,P48637_R267W,R,W,267,RW,R267W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,0.017,S,A,1.67,-0.73,,,,0.000922846,0,0.031471,0.511213
5355,P00813,A,V,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0,0.001,0,,,,,,6101,581,ENSG00000196839,ENST00000372874,CCDS13335.1,ADA,0.91,probably_damaging,0.993,deleterious,0,4.31799,22.7,P00813_A329V,A,V,329,AV,A329V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.315,-3.064,1.749,,H,A,0.44,-0.79,3.643,,63.36,0.00480082,0,0.163718,0.756897
5400,O95467,L,P,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,32,13,ENSG00000087460,ENST00000349036,,GNAS,0.6,possibly_damaging,0.708,deleterious,0.02,4.26142,22.2,O95467_L116P,L,P,116,LP,L116P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
5497,Q9Y6J6,M,T,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0,0,0,,,,,,4710,164,ENSG00000159197,ENST00000290310,CCDS13635.1,KCNE2,0.44,benign,0.41,deleterious,0,2.99751,16,Q9Y6J6_M54T,M,T,54,MT,M54T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.752,-3.255,1.503,,,,,,2.566,,57.72,0.00996717,0,0.339901,0.843225
5498,Q9Y6J6,I,T,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0,0.001,0,0.01,0.004,0.01,0.004,0.01,4701,155,ENSG00000159197,ENST00000290310,CCDS13635.1,KCNE2,0.46,possibly_damaging,0.841,deleterious,0,4.44919,23.7,Q9Y6J6_I57T,I,T,57,IT,I57T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.328,-3.292,1.964,,,,,,2.332,,57.72,0.0125679,0,0.42859,0.809555
5650,P30566,P,A,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,93,348,ENSG00000239900,ENST00000454266,,ADSL,0.2,possibly_damaging,0.599,deleterious,0,4.96541,29,P30566_P100A,P,A,100,PA,P100A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.341,-2.889,1.548,0.677,T,A,0.52,-0.4,5.257,,93.6,0.00125969,0,0.0429582,0.953586
5654,P30566,D,Y,436,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,88,1663,ENSG00000239900,ENST00000454266,,ADSL,0.88,probably_damaging,0.998,deleterious,0,4.71866,26.2,P30566_D436Y,D,Y,436,DY,D436Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.00409761,0,0.139737,0.940136
5655,P30566,R,H,440,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,75,1650,ENSG00000239900,ENST00000454266,,ADSL,0.88,benign,0.334,deleterious,0.04,4.38261,23.2,P30566_R440H,R,H,440,RH,R440H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00523001,0,0.178354,0.959706
5824,Q9Y215,R,X,282,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,40292,6757,ENSG00000206561,ENST00000383788,CCDS33709.1,COLQ,0.62,,,,,6.04713,37,Q9Y215_R282X,R,X,282,RX,R282X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00364665,0,0.124358,0.951177
5828,P43251,A,T,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,0,0,0.001,,,,,,42398,304,ENSG00000169814,ENST00000436193,,BTD,0.6,probably_damaging,1,deleterious,0,5.42996,35,P43251_A151T,A,T,151,AT,A151T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00198597,0,0.0677256,0.975991
5840,P10828,R,H,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,42474,284,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.83,probably_damaging,0.999,deleterious,0,5.2131,33,P10828_R383H,R,H,383,RH,R383H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.15,S,B,1.03,-0.3,,,,0.00280085,0,0.0955148,0.622518
5867,Q8N335,E,K,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,0.001,,,,0.001,31909,1754,ENSG00000152642,ENST00000431009,,GPD1L,0.31,benign,0.024,tolerated,0.17,2.25145,13.49,Q8N335_E44K,E,K,44,EK,E44K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.386,-2.947,1.561,0.342,.,B,1.3,0.03,3.469,,76.07,0.00233257,0,0.0795454,0.871809
5878,P16278,Q,P,378,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,2850,52,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.58,possibly_damaging,0.724,tolerated,0.09,3.99345,20.5,P16278_Q378P,Q,P,378,QP,Q378P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,,,,,,,,,,,,0.00287281,0,0.0979689,0.965877
5882,P16278,R,C,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,0.001,,0.003,,,14516,113,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.28,probably_damaging,0.99,deleterious,0,3.22524,16.81,P16278_R178C,R,C,178,RC,R178C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000222515,0,0.00758823,0.954625
5941,P51681,R,S,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,0.001,0,0.002,,,,,,412,880,ENSG00000160791,ENST00000292303,CCDS2739.1,CCR5,0.17,benign,0.175,deleterious,0,1.10654,9.514,P51681_R60S,R,S,60,RS,R60S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.559,-2.696,1.137,,,,,,10.621,10.621,89.2,0.00340811,0,0.116223,0.940231
6041,O75369,Y,X,2332,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,2154,352,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.9,,,,,11.5153,45,O75369_Y2332X,Y,X,2332,YX,Y2332X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000370695,0,0.0126415,0.970188
6075,P28069,P,L,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,71,16495,ENSG00000064835,ENST00000561167,,POU1F1,0.11,probably_damaging,1,deleterious,0,4.59949,25.1,P28069_P24L,P,L,24,PL,P24L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.144,-3.527,2.383,,,,,,3.63,,84.88,0.00217467,0,0.0741606,0.863918
6092,P36551,R,C,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.09,,,,,,,,,133,4223,ENSG00000080819,ENST00000264193,CCDS2932.1,CPOX,0.72,probably_damaging,1,deleterious,0,4.57776,24.9,P36551_R328C,R,C,328,RC,R328C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,,,,0.719329
6109,P41180,K,N,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,2,3309,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.04,probably_damaging,0.949,tolerated,0.3,3.12954,16.46,P41180_K47N,K,N,47,KN,K47N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-2.808,-2.888,0.08,,,,,,19.362,19.362,61.13,0.00121112,0,0.0413016,0.995224
6112,P41180,G,X,94,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,2844,464,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.09,,,,,3.31687,17.15,P41180_G94X,G,X,94,GX,G94X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.000147435,0,0.00502782,0.969767
6115,P41180,L,P,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,2938,370,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.12,probably_damaging,0.999,deleterious,0.02,4.47525,23.9,P41180_L125P,L,P,125,LP,L125P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-2.366,-2.91,0.544,,,,,,17.118,17.118,48.14,0.00141523,0,0.0482623,0.985436
6127,P41180,R,Q,465,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,21666,9460,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.43,benign,0.404,tolerated,0.55,2.88334,15.61,P41180_R465Q,R,Q,465,RQ,R465Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.245,-2.129,-0.116,,,,,,10.3,10.3,67.72,0.00105813,0,0.0360844,1.02234
6207,P02787,H,R,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0,0,0,0.01,0.02,0.01,,,11461,931,ENSG00000091513,ENST00000402696,CCDS3080.1,TF,0.46,benign,0.039,tolerated,0.37,1.22425,9.966,P02787_H319R,H,R,319,HR,H319R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-3.066,-2.868,-0.198,0.259,.,a,1.03,-0.56,21.589,21.589,88.11,0.00154389,0,0.0526499,0.968013
6289,P11168,V,E,423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,28422,544,ENSG00000163581,ENST00000314251,CCDS3215.1,SLC2A2,0.81,probably_damaging,0.978,deleterious,0,4.52595,24.4,P11168_V423E,V,E,423,VE,V423E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.177,-3.566,2.389,,,,,,2.11,,80.73,0.00186524,0,0.0636085,0.855197
6291,P11168,P,L,417,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,28404,562,ENSG00000163581,ENST00000314251,CCDS3215.1,SLC2A2,0.8,probably_damaging,1,deleterious,0,5.06787,31,P11168_P417L,P,L,417,PL,P417L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.906,-3.439,2.533,,,,,,,,,0.000999878,0,0.0340979,0.739804
6296,P11168,V,I,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,0,0,0,,,,,,300,1751,ENSG00000163581,ENST00000314251,CCDS3215.1,SLC2A2,0.38,probably_damaging,0.999,tolerated,0.06,4.50675,24.2,P11168_V197I,V,I,197,VI,V197I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.039,-2.516,1.477,,,,,,,,,0.000729651,0,0.0248826,0.929066
6330,Q13144,R,C,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,35,60,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.27,probably_damaging,0.997,deleterious,0,4.18182,21.7,Q13144_R195C,R,C,195,RC,R195C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.00144316,0,0.0492146,0.692287
6331,Q13144,R,H,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,0.001,,,,0.001,36,59,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.27,probably_damaging,0.997,deleterious,0,5.32427,34,Q13144_R195H,R,H,195,RH,R195H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.00144316,0,0.0492146,0.740729
6359,Q13144,W,R,628,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,57,402,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.87,probably_damaging,0.993,deleterious,0.01,4.18094,21.7,Q13144_W628R,W,R,628,WR,W628R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.198,-3.935,2.737,0.041,H,A,1.67,-0.73,,,,0.00323202,0,0.110219,0.506293
6360,Q13144,W,X,628,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.05,,,,,,,,,59,404,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.87,,,,,8.33019,40,Q13144_W628X,W,X,628,WX,W628X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00323202,0,0.110219,0.931205
6485,P09417,W,G,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,10149,11792,ENSG00000151552,ENST00000508623,,QDPR,0.67,benign,0.248,tolerated,0.1,2.8552,15.51,P09417_W108G,W,G,108,WG,W108G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.198,-3.135,1.937,0.441,I,A,0.76,0.09,,,,0.00740752,0,0.252612,0.779817
6542,Q86XX4,Q,X,1267,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,329955,59034,ENSG00000138759,ENST00000325942,CCDS54772.1,FRAS1,0.64,,,,,9.46853,42,Q86XX4_Q1267X,Q,X,1267,QX,Q1267X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6593,Q01484,L,I,3707,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,0.013,0.037,0,0.01,,0.01,0.03,0.001,10162,13721,ENSG00000145362,ENST00000264366,,ANK2,0.94,benign,0.186,tolerated,0.06,1.52375,11.05,Q01484_L3707I,L,I,3707,LI,L3707I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,,,,0.959213
6594,Q01484,T,N,3711,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,0.001,0,0.001,,,,,,10175,13708,ENSG00000145362,ENST00000264366,,ANK2,0.95,benign,0.205,deleterious,0.01,1.30517,10.27,Q01484_T3711N,T,N,3711,TN,T3711N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,,,,,,,,,,,,,,,0.955431
6596,Q01484,E,K,3898,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,0.003,0.001,0.004,0.001,,,,0.004,22,8091,ENSG00000145362,ENST00000264366,,ANK2,0.99,benign,0.066,deleterious,0.01,3.51197,17.94,Q01484_E3898K,E,K,3898,EK,E3898K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
6621,P08235,S,X,163,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.09,,,,,,,,,488,355030,ENSG00000151623,ENST00000512865,CCDS54811.1,NR3C2,0.19,,,,,5.88637,36,P08235_S163X,S,X,163,SX,S163X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000675458,0,0.0230345,0.980409
6634,O43897,I,V,629,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,186718,41961,ENSG00000038295,ENST00000061240,CCDS3811.1,TLL1,0.62,benign,0.152,deleterious,0.01,2.35919,13.85,O43897_I629V,I,V,629,IV,I629V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.544,-2.343,0.799,,,,,,6.303,,68.11,0.0019429,0,0.0662569,0.987233
6653,Q6ZWL3,G,R,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,3048,16234,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.18,probably_damaging,0.999,deleterious,0,3.18666,16.67,Q6ZWL3_G95R,G,R,95,GR,G95R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.00381729,0.00232558,0.130177,0.756444
6654,Q6ZWL3,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.48,0.05,,,,,,,,,3093,16189,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,,,,,,2.47219,14.23,Q6ZWL3_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6668,Q6ZWL3,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.48,0.04,,,,,,,,,117,1939,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,,,,,,1.73792,11.77,Q6ZWL3_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6682,P03951,E,X,135,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.05,0.001,0,0.001,,,,,,1212,417,ENSG00000088926,ENST00000492972,,F11,0.83,,,,,3.34322,17.26,P03951_E135X,E,X,135,EX,E135X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000946176,0,0.0322666,0.911228
6685,P03951,F,L,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0.001,0,0.001,,,,,,4403,1812,ENSG00000088926,ENST00000452239,,F11,0.56,probably_damaging,0.993,deleterious,0.01,4.26567,22.3,P03951_F117L,F,L,117,FL,F117L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.00146936,0,0.0501083,0.907176
6719,Q9UBK8,G,R,487,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,1446,52,ENSG00000124275,ENST00000440940,CCDS47190.1,MTRR,0.7,probably_damaging,1,deleterious,0,4.30033,22.5,Q9UBK8_G487R,G,R,487,GR,G487R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00212403,0,0.072434,0.954089
6731,Q9UMX9,L,P,361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,0,0,0,,,,,,32610,139,ENSG00000164175,ENST00000382102,CCDS43308.1,SLC45A2,0.78,possibly_damaging,0.852,tolerated,0.25,2.25372,13.49,Q9UMX9_L361P,L,P,361,LP,L361P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.697,-3.957,2.26,,,,,,1.749,,74.15,0.00167113,0,0.056989,0.856424
6746,Q6KC79,R,X,1149,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.05,,,,,,,,,5363,7,ENSG00000164190,ENST00000448238,CCDS47198.1,NIPBL,0.43,,,,,11.0024,44,Q6KC79_R1149X,R,X,1149,RX,R1149X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6851,P25054,R,C,414,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,0,0,0,0.001,,,,0.003,319,2721,ENSG00000134982,ENST00000257430,CCDS4107.1,APC,0.15,probably_damaging,0.997,deleterious,0,5.0318,29.7,P25054_R414C,R,C,414,RC,R414C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.766,-3.302,1.536,0.115,H,A,1.66,-0.59,10.268,10.268,21.25,,,,0.691051
6863,P35556,C,W,1253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,3649,7244,ENSG00000138829,ENST00000262464,CCDS34222.1,FBN2,0.43,probably_damaging,0.942,deleterious,0,3.386,17.42,P35556_C1253W,C,W,1253,CW,C1253W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.412,-4.833,3.421,,,,,,,,,,,,0.743732
6864,P35556,C,Y,1253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,3648,7245,ENSG00000138829,ENST00000262464,CCDS34222.1,FBN2,0.43,possibly_damaging,0.835,deleterious,0,5.07293,31,P35556_C1253Y,C,Y,1253,CY,C1253Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,,,,0.755919
6867,P35556,V,I,965,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,0.662,0.628,0.68,0.73,0.92,0.71,0.6,0.68,188380,21144,ENSG00000138829,ENST00000262464,CCDS34222.1,FBN2,0.33,benign,0.042,tolerated,0.38,2.18685,13.27,P35556_V965I,V,I,965,VI,V965I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.376,-1.87,0.494,,,,,,25.027,25.027,92.17,,,,0.988208
6897,Q15582,R,S,666,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,0.001,0,0.001,0.001,,0.003,,0.003,1484,699,ENSG00000120708,ENST00000442011,CCDS47266.1,TGFBI,0.98,benign,0.002,tolerated,0.83,0.209942,5.132,Q15582_R666S,R,S,666,RS,R666S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.951,-2.142,0.191,,,,,,19.899,19.899,90.63,0.00560584,0,0.191171,0.971091
6944,P00995,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.48,0.04,,,,,,,,,60,3898,ENSG00000164266,ENST00000510027,,SPINK1,0.02,possibly_damaging,0.628,deleterious,0,2.44609,14.14,P00995_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.296,-3.277,1.981,,,,,,,,,0.0169941,0.0384615,0.579533,0.81255
6971,P23415,Y,C,307,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,95777,6433,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.67,possibly_damaging,0.885,deleterious,0,4.43288,23.6,P23415_Y307C,Y,C,307,YC,Y307C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.437,-4.544,3.107,,,,,,,,,0.00304466,0,0.103829,0.744325
6980,P23415,M,V,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,,,,,,,,,68496,6646,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.38,probably_damaging,0.979,deleterious,0,4.15852,21.5,P23415_M175V,M,V,175,MV,M175V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.998,-2.535,0.537,,,,,,,,,0.000847637,0,0.0289062,0.978493
7102,P51649,R,X,384,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,0,0,0,,,,,,5419,5701,ENSG00000112294,ENST00000491546,,ALDH5A1,0.76,,,,,6.16399,37,P51649_R384X,R,X,384,RX,R384X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000135796,0,0.00463093,0.978539
7150,P23942,L,P,185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,794,25179,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.53,probably_damaging,1,deleterious,0,4.38211,23.2,P23942_L185P,L,P,185,LP,L185P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00195979,0,0.0668328,0.778607
7151,P23942,D,V,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,758,25215,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.5,probably_damaging,1,deleterious,0,4.55516,24.7,P23942_D173V,D,V,173,DV,D173V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-0.985,-3.571,2.586,,,,,,,,,0.00171664,0,0.0585408,0.739916
7156,P23942,R,X,46,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,376,25597,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.13,,,,,6.58414,37,P23942_R46X,R,X,46,RX,R46X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00255834,0,0.0872446,0.959768
7168,Q13950,M,R,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,9478,115247,ENSG00000124813,ENST00000359524,CCDS4913.1,RUNX2,0.32,probably_damaging,0.989,deleterious,0,4.2631,22.2,Q13950_M161R,M,R,161,MR,M161R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,0.000816742,0,0.0278526,0.992385
7188,Q02094,G,R,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,24336,6781,ENSG00000112077,ENST00000229810,,RHAG,0.8,probably_damaging,0.992,deleterious,0,5.13938,32,Q02094_G280R,G,R,280,GR,G280R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.8,-3.367,2.567,,H,A,0.91,-0.57,17.581,17.581,49.14,0.00147542,0,0.0503147,0.597473
7259,P24043,C,X,967,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,414532,218841,ENSG00000196569,ENST00000421865,CCDS5138.1,LAMA2,0.31,,,,,8.11182,40,P24043_C967X,C,X,967,CX,C967X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
7301,P03372,V,E,364,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,331,39663,ENSG00000091831,ENST00000440973,CCDS5234.1,ESR1,0.61,probably_damaging,1,deleterious,0,4.80597,27.2,P03372_V364E,V,E,364,VE,V364E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.407,-3.647,2.24,0.025,S,B,1.48,-0.68,0.813,,40.17,0.00188792,0,0.064382,0.576447
7321,O60260,R,W,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,0.002,0,0.003,0.001,,0.003,,,941849,240708,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.57,probably_damaging,1,deleterious,0,3.93404,20.1,O60260_R247W,R,W,247,RW,R247W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00331655,0,0.113101,0.960989
7368,Q02643,K,E,265,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,10,462,ENSG00000106128,ENST00000409904,,GHRHR,0.74,possibly_damaging,0.448,deleterious,0,3.48741,17.84,Q02643_K265E,K,E,265,KE,K265E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.00229189,0,0.0781584,0.976093
7384,Q9HAC7,R,X,179,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,102648,261851,ENSG00000175600,ENST00000309930,CCDS55104.1,C7orf10,0.38,,,,,4.43701,23.6,Q9HAC7_R179X,R,X,179,RX,R179X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00369244,0,0.12592,0.951177
7441,P08236,A,V,568,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,15164,296,ENSG00000169919,ENST00000345660,,GUSB,0.95,possibly_damaging,0.718,deleterious,0,4.91603,28.4,P08236_A568V,A,V,568,AV,A568V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00234833,0,0.0800828,0.975319
7487,O15041,S,L,643,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,273626,321,ENSG00000170381,ENST00000427262,CCDS55121.1,SEMA3E,0.9,benign,0.002,tolerated,0.47,-0.105945,3.481,O15041_S643L,S,L,643,SL,S643L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,,,,0.932753
7497,P08123,G,C,259,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,,,,,,,,,14245,22427,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.19,,,deleterious,0,4.07962,21,P08123_G259C,G,C,259,GC,G259C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.861,-4.864,4.003,,,,,0,,,,2.59e-05,0,0.000882555,0.639288
7499,P08123,G,W,367,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,15868,20804,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.27,,,deleterious,0,3.87766,19.71,P08123_G367W,G,W,367,GW,G367W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-1.089,-4.997,3.908,,,,,0,0.394,,80.82,0.000274979,0,0.00937736,0.715669
7503,P08123,G,D,547,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,213,2889,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.4,,,deleterious,0,4.64338,25.5,P08123_G547D,G,D,547,GD,G547D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.063,-3.239,2.176,,,,,0,3.658,,74.67,2.23e-05,0,0.000759782,0.70802
7512,P08123,G,A,1006,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,69,288,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.74,,,deleterious,0,3.23203,16.83,P08123_G1006A,G,A,1006,GA,G1006A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.861,-2.63,1.769,,,,,0,,,,0.00103484,0,0.0352902,0.826254
7549,O43511,A,V,372,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,28531,28644,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.48,probably_damaging,0.98,deleterious,0,5.40698,34,O43511_A372V,A,V,372,AV,A372V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.171,-2.965,1.794,,,,,,9.872,9.872,88.46,0.00103819,0,0.0354044,0.961629
7555,O43511,L,W,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0,0,0,,,,,,1141,1492,ENSG00000091137,ENST00000544569,,SLC26A4,0.09,probably_damaging,1,deleterious,0,4.74209,26.5,O43511_L32W,L,W,32,LW,L32W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,,,,,,,,,,,,0.00122293,0,0.0417045,0.904303
7588,P13569,L,W,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0,0,0,,,,,,55190,131787,ENSG00000001626,ENST00000426809,,CFTR,0.12,probably_damaging,0.998,deleterious,0,3.36369,17.34,P13569_L176W,L,W,176,LW,L176W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,,,,,,,,,,,,0.0003047,0,0.0103909,0.97878
7675,P51857,L,F,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,22,507,ENSG00000122787,ENST00000438242,,AKR1D1,0.52,probably_damaging,1,deleterious,0,4.99901,29.4,P51857_L50F,L,F,50,LF,L50F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,0.00223307,0,0.0761524,0.989554
7775,P18440,V,I,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0.017,0.004,0.024,0.02,0.01,0.02,0.004,0.03,715,168,ENSG00000171428,ENST00000520546,CCDS6007.1,NAT1,0.51,benign,0.005,tolerated,1,-1.54935,0.015,P18440_V149I,V,I,149,VI,V149I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.746,-1.588,-0.158,0.358,E,B,0.04,-0.74,25.379,25.379,93.47,0.00586499,0,0.200008,0.965212
7776,P11245,I,T,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,0.395,0.298,0.445,0.3,0.03,0.38,0.31,0.45,9057,650,ENSG00000156006,ENST00000286479,CCDS6008.1,NAT2,0.39,possibly_damaging,0.588,deleterious,0.04,0.99186,9.05,P11245_I114T,I,T,114,IT,I114T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.505,-2.304,0.799,0.15,E,B,0.7,-0.25,17.383,17.383,70.69,0.00472822,0,0.161242,0.855025
7792,P06858,G,E,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,0,0,0.001,,,,,,15251,71,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.45,probably_damaging,0.953,tolerated,0.86,1.70528,11.66,P06858_G215E,G,E,215,GE,G215E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.151,-2.261,1.11,,,,,,26.829,26.829,90.32,0.0022505,0,0.0767466,0.963173
7802,P06858,D,N,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,16923,11365,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.58,possibly_damaging,0.585,deleterious,0.03,5.45522,35,P06858_D277N,D,N,277,DN,D277N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.985,-3.04,2.055,,,,,,,,,0.00214979,0,0.0733124,0.850616
7805,P06858,A,T,361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,20351,7937,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.76,benign,0.006,tolerated,1,-0.598612,1.324,P06858_A361T,A,T,361,AT,A361T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-2.075,-2.453,0.378,,,,,,10.561,10.561,90.32,0.00302362,0,0.103112,1.01269
7877,Q9P2D1,L,R,1257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.09,,,,,,,,,89204,35906,ENSG00000171316,ENST00000307121,,CHD7,0.42,probably_damaging,1,deleterious,0,4.63901,25.4,Q9P2D1_L1257R,L,R,1257,LR,L1257R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.208,-3.668,2.46,,,,,,,,,,,,0.772039
7908,P28328,E,K,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,2512,155,ENSG00000164751,ENST00000419564,CCDS6221.1,PEX2,0.18,probably_damaging,0.999,deleterious,0,5.36278,34,P28328_E55K,E,K,55,EK,E55K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,0.0016795,0,0.0572743,0.828737
7909,P00915,G,R,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,9710,8,ENSG00000133742,ENST00000523953,CCDS6237.1,CA1,0.97,probably_damaging,0.934,deleterious,0,4.70591,26.1,P00915_G254R,G,R,254,GR,G254R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,0.862,T,l,0.91,-0.04,,,,0.0111763,0,0.381134,0.703008
7910,P00915,R,H,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,9690,12,ENSG00000133742,ENST00000523953,CCDS6237.1,CA1,0.95,probably_damaging,1,deleterious,0,2.79065,15.29,P00915_R247H,R,H,247,RH,R247H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.457,-4.128,2.671,0.013,.,B,1.03,-0.89,3.936,,83.52,0.013464,0,0.459149,0.621375
7955,O60353,E,X,584,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,29909,109,ENSG00000164930,ENST00000358755,CCDS6298.1,FZD6,0.83,,,,,7.76614,39,O60353_E584X,E,X,584,EX,E584X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.0018405,0,0.0627647,0.96137
7956,Q14117,W,R,360,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,0.001,,,,0.001,39060,48570,ENSG00000147647,ENST00000351513,CCDS6302.1,DPYS,0.69,probably_damaging,1,deleterious,0,4.38351,23.2,Q14117_W360R,W,R,360,WR,W360R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.198,-3.935,2.737,0.046,I,A,1.67,-0.71,,,,0.000104437,0,0.00356153,0.519361
7962,Q8WW38,T,A,711,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,13893,989,ENSG00000169946,ENST00000517361,,ZFPM2,0.7,benign,0.087,tolerated,0.18,1.3474,10.43,Q8WW38_T711A,T,A,711,TA,T711A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,0.00030558,0,0.0104209,0.990924
7965,Q9UHF7,R,H,956,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,77207,585,ENSG00000104447,ENST00000520276,,TRPS1,0.74,probably_damaging,0.999,deleterious,0,4.14745,21.4,Q9UHF7_R956H,R,H,956,RH,R956H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
7966,Q9UHF7,R,C,956,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,77206,586,ENSG00000104447,ENST00000520276,,TRPS1,0.74,probably_damaging,0.999,deleterious,0,3.87354,19.68,Q9UHF7_R956C,R,C,956,RC,R956C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
7987,O43525,R,C,210,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,272968,45150,ENSG00000184156,ENST00000521134,CCDS56554.1,KCNQ3,0.28,probably_damaging,0.999,deleterious,0,4.36443,23,O43525_R210C,R,C,210,RC,R210C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000974857,0,0.0332446,0.887012
7992,P01266,R,X,296,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.08,0.001,0.001,0.001,,,,,,737,632,ENSG00000042832,ENST00000220616,CCDS34944.1,TG,0.11,,,,,5.51819,35,P01266_R296X,R,X,296,RX,R296X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,2.76e-05,0,0.000942171,0.984992
8055,P55072,R,H,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,6664,5,ENSG00000165280,ENST00000417448,,VCP,0.99,benign,0.07,tolerated,0.09,4.51994,24.3,P55072_R114H,R,H,114,RH,R114H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00122065,0,0.0416268,0.926491
8056,P55072,R,P,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,6652,17,ENSG00000165280,ENST00000417448,,VCP,0.95,benign,0.178,deleterious,0,4.13668,21.4,P55072_R110P,R,P,110,RP,R110P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.000791992,0,0.0270086,0.962088
8057,P55072,R,H,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,6652,17,ENSG00000165280,ENST00000417448,,VCP,0.95,benign,0.053,tolerated,0.07,4.15535,21.5,P55072_R110H,R,H,110,RH,R110H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000791992,0,0.0270086,1.00233
8077,Q9Y223,C,X,303,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,15404,16804,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.42,,,,,5.78936,36,Q9Y223_C303X,C,X,303,CX,C303X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00058428,0,0.0199252,0.980504
8127,Q8TDI8,D,N,572,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,7278,14359,ENSG00000165091,ENST00000297784,CCDS6643.1,TMC1,0.75,probably_damaging,0.99,tolerated,0.08,5.24395,33,Q8TDI8_D572N,D,N,572,DN,D572N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.661,-2.807,1.146,,,,,,3.834,3.834,51.97,0.00208475,0,0.0710943,0.961462
8128,Q8TDI8,D,H,572,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,7278,14359,ENSG00000165091,ENST00000297784,CCDS6643.1,TMC1,0.75,probably_damaging,0.999,deleterious,0.02,4.78808,27,Q8TDI8_D572H,D,H,572,DH,D572H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.661,-4.589,2.928,,,,,,1.004,,51.97,0.00208475,0,0.0710943,0.84463
8201,O95477,R,W,2081,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,141298,5938,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.92,probably_damaging,0.999,deleterious,0,3.10373,16.37,O95477_R2081W,R,W,2081,RW,R2081W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.000814085,0,0.027762,0.810166
8218,O75072,F,S,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,29252,24,ENSG00000106692,ENST00000540160,,FKTN,0.65,possibly_damaging,0.861,deleterious,0,4.62611,25.3,O75072_F176S,F,S,176,FS,F176S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.366,-2.612,1.246,,,,,,7.204,7.204,89.15,0.00180686,0,0.0616177,0.93001
8219,O75072,R,T,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,29261,15,ENSG00000106692,ENST00000540160,,FKTN,0.66,probably_damaging,0.996,deleterious,0.02,4.75712,26.6,O75072_R179T,R,T,179,RT,R179T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-0.874,-3.486,2.612,,,,,,1.031,,27.33,0.00130605,0,0.0445389,0.812699
8233,Q13049,R,H,394,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.09,,,,,,,,,11580,663,ENSG00000119401,ENST00000373983,CCDS6817.1,TRIM32,0.6,possibly_damaging,0.748,tolerated,0.13,3.90152,19.84,Q13049_R394H,R,H,394,RH,R394H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.00156552,0,0.0533874,0.740729
8273,Q53GS7,R,H,569,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,0,0,0,,,,,,15997,3464,ENSG00000119392,ENST00000372770,CCDS6904.1,GLE1,0.86,probably_damaging,0.988,deleterious,0,5.1331,32,Q53GS7_R569H,R,H,569,RH,R569H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.212,-4.174,2.962,,,,,,0.787,,38.54,0.00227172,0,0.0774704,0.843414
8298,Q9Y6A1,G,R,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,3175,590,ENSG00000130714,ENST00000448212,,POMT1,0.05,probably_damaging,0.993,tolerated,0.17,5.01357,29.5,Q9Y6A1_G11R,G,R,11,GR,G11R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
8315,Q7Z333,T,I,3,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,5565,87981,ENSG00000107290,ENST00000372169,,SETX,0,probably_damaging,0.905,deleterious,0,3.81953,19.4,Q7Z333_T3I,T,I,3,TI,T3I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.129,-3.196,2.067,,,,,,7.329,,44.64,,,,0.806524
8365,P08842,W,R,372,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,105900,29455,ENSG00000101846,ENST00000217961,CCDS14127.1,STS,0.64,probably_damaging,1,deleterious,0,2.56112,14.52,P08842_W372R,W,R,372,WR,W372R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.278,-4.028,2.75,0.133,S,B,1.67,0.69,0.961,,48.89,0.00290313,0.00473934,0.0990029,0.590379
8366,P08842,W,S,372,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,105901,29454,ENSG00000101846,ENST00000217961,CCDS14127.1,STS,0.64,probably_damaging,1,deleterious,0.04,1.88299,12.25,P08842_W372S,W,S,372,WS,W372S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.278,-3.646,2.368,0.133,S,B,0.74,0.69,1.231,,48.89,0.00290313,0.00473934,0.0990029,0.604492
8380,O15344,L,P,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,94347,27534,ENSG00000101871,ENST00000413894,,MID1,0.61,probably_damaging,0.999,deleterious,0,4.27586,22.3,O15344_L295P,L,P,295,LP,L295P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00098044,0,0.033435,0.732697
8383,P53701,R,X,197,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.05,,,,,,,,,9609,906,ENSG00000004961,ENST00000380763,CCDS14139.1,HCCS,0.74,,,,,5.84343,36,P53701_R197X,R,X,197,RX,R197X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00654062,0,0.223049,0.920376
8412,P46019,K,E,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,39468,52831,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.15,probably_damaging,0.994,deleterious,0,4.93509,28.6,P46019_K189E,K,E,189,KE,K189E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-0.749,-3.153,2.404,,,,,,1.083,,60.32,0.000227121,0,0.0077453,0.864755
8413,P46019,R,H,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,39460,52839,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.15,probably_damaging,1,deleterious,0,5.42699,35,P46019_R186H,R,H,186,RH,R186H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.763,-4.309,3.546,,,,,,,,,0.000296088,0,0.0100972,0.820854
8414,P46019,R,C,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,39459,52840,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.15,probably_damaging,1,deleterious,0,4.32274,22.7,P46019_R186C,R,C,186,RC,R186C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-0.763,-5.166,4.403,,,,,,,,,0.000296088,0,0.0100972,0.761813
8458,P51843,I,S,439,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,3813,470,ENSG00000169297,ENST00000378970,CCDS14223.1,NR0B1,0.93,probably_damaging,0.979,deleterious,0,4.52368,24.4,P51843_I439S,I,S,439,IS,I439S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-1.215,-3.546,2.331,,,,,,2.429,,75.11,0.00830334,0,0.283161,0.787817
8489,P11532,E,V,2910,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,0.03,0.069,0.008,0.04,0.03,0.03,0.08,0.02,30168,6,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.79,possibly_damaging,0.62,deleterious,0,4.42212,23.5,P11532_E2910V,E,V,2910,EV,E2910V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,-1.448,-3.459,2.011,,,,,,1.791,,72.97,,,,0.855601
8532,P04839,P,H,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,25034,6006,ENSG00000165168,ENST00000536160,,CYBB,0.49,probably_damaging,1,deleterious,0,4.77846,26.9,P04839_P148H,P,H,148,PH,P148H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,,,,,,,,,,,,0.00232854,0.00236967,0.0794081,0.963676
8694,P00480,G,R,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.09,,,,,,,,,2276,29,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.53,probably_damaging,0.998,deleterious,0,5.2718,33,P00480_G188R,G,R,188,GR,G188R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.161,-4.082,2.921,0.448,T,l,0.91,-0.24,4.179,,58.76,0.00337701,0,0.115163,0.658825
8695,P00480,G,V,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.09,,,,,,,,,2277,28,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.53,probably_damaging,0.999,deleterious,0,5.09651,31,P00480_G188V,G,V,188,GV,G188V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.161,-4.002,2.841,0.448,T,l,0.73,-0.24,3.192,,58.76,0.00337701,0,0.115163,0.670954
8697,P00480,L,R,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,2286,19,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.54,probably_damaging,0.937,deleterious,0,4.76877,26.8,P00480_L191R,L,R,191,LR,L191R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.788,-4.421,2.633,,E,B,1.75,-0.73,2.451,,76.55,0.00602154,0,0.205347,0.501858
8715,P00480,S,C,203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,2322,18,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.57,probably_damaging,0.999,deleterious,0,4.97892,29.1,P00480_S203C,S,C,203,SC,S203C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.319,-5.117,3.798,,H,A,0.73,-0.81,0.896,,58.76,0.00304149,0,0.103721,0.562277
8716,P00480,M,V,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,2327,23,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.58,possibly_damaging,0.727,tolerated,0.14,4.19293,21.7,P00480_M205V,M,V,205,MV,M205V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.879,-2.507,0.628,0.032,H,A,0.11,-0.31,11.18,11.18,81.36,0.0062443,0,0.212943,0.925014
8717,P00480,M,R,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,2331,27,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.58,probably_damaging,0.982,deleterious,0,4.13532,21.3,P00480_M206R,M,R,206,MR,M206R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-2.452,-4.323,1.871,0.006,T,A,1.75,0,2.89,,72.88,0.00591329,0,0.201655,0.732369
8718,P00480,M,I,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,2332,28,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.58,benign,0.234,tolerated,1,1.0626,9.339,P00480_M206I,M,I,206,MI,M206I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-2.452,-2.037,-0.415,0.006,T,A,0.07,0,21.17,21.17,72.88,0.00591329,0,0.201655,0.997986
8723,P00480,K,Q,210,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,2342,38,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.59,possibly_damaging,0.481,deleterious,0,4.16456,21.5,P00480_K210Q,K,Q,210,KQ,K210Q,PositiveCharge,Polar,9.74,6.24,-3.5,146,146,0,168.6,143.8,-24.8,53,-1.542,-3.114,1.572,0.117,G,A,1.7,-0.35,15.954,15.954,33.05,0.00516967,0,0.176296,0.687113
8724,P00480,H,Y,214,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,2354,50,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.6,possibly_damaging,0.785,deleterious,0.03,3.6115,18.38,P00480_H214Y,H,Y,214,HY,H214Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-2.119,-3.51,1.391,0.276,E,B,0.38,0,13.09,13.09,55.37,0.00580443,0,0.197943,0.77955
8726,P00480,Q,E,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,2360,56,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.61,benign,0.351,tolerated,0.38,1.95974,12.51,P00480_Q216E,Q,E,216,QE,Q216E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,-2.821,-3.824,1.003,0.094,E,B,0.4,-0.37,5.038,,76.55,0.00603461,0,0.205793,0.842651
8727,P00480,A,E,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,2364,60,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.61,probably_damaging,0.914,deleterious,0,3.79856,19.29,P00480_A217E,A,E,217,AE,A217E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-2.184,-4.091,1.907,0.01,E,B,1.04,-0.36,2.202,,85.59,0.00475482,0,0.162149,0.75249
8853,Q00604,V,E,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,8780,8830,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.34,probably_damaging,0.949,deleterious,0,4.21543,21.9,Q00604_V45E,V,E,45,VE,V45E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.304,-3.4,2.096,,,,,,,,,0.00875272,0,0.298486,0.787149
8854,Q00604,Y,C,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,8783,8833,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.33,probably_damaging,0.984,deleterious,0,3.06058,16.22,Q00604_Y44C,Y,C,44,YC,Y44C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.64,-4.673,3.033,,,,,,0.66,,60.9,0.012184,0,0.415501,0.722023
8928,P41229,S,R,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,114,864,ENSG00000126012,ENST00000452825,CCDS55417.1,KDM5C,0.28,probably_damaging,1,deleterious,0,3.21133,16.76,P41229_S384R,S,R,384,SR,S384R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,,,,0.94527
8939,Q7Z6Z7,R,W,4013,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.09,,,,,,,,,812,392,ENSG00000086758,ENST00000342160,CCDS35301.1,HUWE1,0.92,,,,,2.39338,13.96,Q7Z6Z7_R4013W,R,W,4013,RW,R4013W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,0.859,.,B,1.67,2.07,,,,,,,0.690907
8942,Q9UPP1,R,X,211,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,36,15042,ENSG00000172943,ENST00000338154,CCDS14355.1,PHF8,0.21,,,,,11.026,44,Q9UPP1_R211X,R,X,211,RX,R211X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8956,P22557,T,S,375,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,4851,6470,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.65,probably_damaging,0.998,deleterious,0,4.55988,24.7,P22557_T375S,T,S,375,TS,T375S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,,,,,,,,,,,,0.00205336,0,0.0700239,0.973785
9000,P10275,R,H,324,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,154055,993,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.84,probably_damaging,0.984,deleterious,0,4.82208,27.3,P10275_R324H,R,H,324,RH,R324H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000866213,0,0.0295397,1.00233
9001,P10275,F,L,325,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,154059,989,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.84,benign,0.015,tolerated,0.12,2.37709,13.91,P10275_F325L,F,L,325,FL,F325L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.000534085,0,0.0182134,0.984679
9002,P10275,S,P,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,154084,964,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.86,probably_damaging,0.962,deleterious,0,4.16993,21.6,P10275_S334P,S,P,334,SP,S334P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.872,-3.779,1.907,,,,,,2.501,,84.55,0.00053155,0,0.0181269,0.962665
9005,P10275,T,A,346,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,154821,227,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.89,benign,0.101,deleterious,0.02,2.77094,15.23,P10275_T346A,T,A,346,TA,T346A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,0.000386691,0,0.013187,0.990924
9006,P10275,T,S,346,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.04,,,,,,,,,154822,226,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.89,benign,0.232,deleterious,0.02,3.06299,16.22,P10275_T346S,T,S,346,TS,T346S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,,,,,,,,,,,,0.000386691,0,0.013187,0.993067
9008,P10275,S,S,357,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.48,0.04,,,,,,,,,154856,192,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.92,,,,,0.980684,9.003,P10275_S357S,S,S,357,SS,S357S,Polar,Polar,5.68,5.68,0,105,105,0,89,89,0,0,,,,,,,,,,,,0.000238552,0,0.00813511,1.00404
9097,P00558,I,N,19,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,7405,78,ENSG00000102144,ENST00000537456,,PGK1,0.05,probably_damaging,0.996,deleterious,0,4.37757,23.1,P00558_I19N,I,N,19,IN,I19N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,,,,,,,,,,,,0.00215311,0,0.0734253,0.960124
9104,P00558,D,V,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,,,,,,,,,453,47,ENSG00000102144,ENST00000537456,,PGK1,0.66,probably_damaging,0.983,deleterious,0,4.14941,21.4,P00558_D257V,D,V,257,DV,D257V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.00244291,0,0.0833082,0.96168
9106,P00558,S,N,292,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,49,1205,ENSG00000102144,ENST00000537456,,PGK1,0.75,possibly_damaging,0.624,deleterious,0,4.32264,22.7,P00558_S292N,S,N,292,SN,S292N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,0.00260097,0,0.0886984,0.9706
9111,Q9Y458,L,P,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,3642,4663,ENSG00000122145,ENST00000373291,CCDS43975.1,TBX22,0.23,probably_damaging,1,deleterious,0,3.52871,18.01,Q9Y458_L94P,L,P,94,LP,L94P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00202548,0,0.0690731,0.964361
9144,Q06187,R,P,386,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,50,616,ENSG00000010671,ENST00000372880,,BTK,0.8,probably_damaging,0.949,deleterious,0,4.17335,21.6,Q06187_R386P,R,P,386,RP,R386P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00161321,0,0.0550138,0.886701
9145,Q06187,R,W,386,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,49,617,ENSG00000010671,ENST00000372880,,BTK,0.8,probably_damaging,0.985,deleterious,0,3.9479,20.2,Q06187_R386W,R,W,386,RW,R386W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00161321,0,0.0550138,0.910399
9147,Q06187,R,Q,349,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.05,,,,,,,,,466,899,ENSG00000010671,ENST00000372880,,BTK,0.72,possibly_damaging,0.637,deleterious,0.01,5.67072,36,Q06187_R349Q,R,Q,349,RQ,R349Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00123146,0,0.0419955,0.918197
9153,Q06187,Y,X,425,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.03,,,,,,,,,54,347,ENSG00000010671,ENST00000308731,CCDS14482.1,BTK,0.64,,,,,6.58092,37,Q06187_Y425X,Y,X,425,YX,Y425X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0012346,0,0.0421025,0.8948
9175,P06280,W,X,340,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,616,272,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.79,,,,,5.67279,36,P06280_W340X,W,X,340,WX,W340X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00383695,0,0.130848,0.931205
9182,P06280,W,X,287,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,187,9,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.67,,,,,5.63176,36,P06280_W287X,W,X,287,WX,W287X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000738591,0,0.0251875,0.956807
9197,P06280,A,P,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,899,382,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.33,probably_damaging,0.939,deleterious,0.01,4.57108,24.8,P06280_A143P,A,P,143,AP,A143P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.142,-3.575,2.433,0.398,T,A,0.52,0.39,2.032,,77.62,0.00449278,0,0.153213,0.805208
9211,P60201,T,I,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,12,159,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.5,probably_damaging,0.994,deleterious,0,3.25572,16.92,P60201_T121I,T,I,121,TI,T121I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00318704,0,0.108684,0.963657
9293,P29400,G,E,365,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,4184,40594,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.22,,,deleterious,0,2.63844,14.78,P29400_G365E,G,E,365,GE,G365E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.809,-3.482,2.673,,,,,,,,,6.89e-05,0,0.00235071,0.808191
9294,P29400,G,E,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,4202,40576,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.22,,,deleterious,0.03,3.0998,16.35,P29400_G371E,G,E,371,GE,G371E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.809,-3.482,2.673,,,,,,,,,3.84e-05,0,0.00130872,0.808191
9296,P29400,G,A,374,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,4211,40567,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.22,,,deleterious,0.01,3.43036,17.6,P29400_G374A,G,A,374,GA,G374A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.861,-2.63,1.769,,,,,,,,,2.51e-05,0,0.000854526,0.916571
9319,P29400,G,R,545,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,,,,,,,,,14930,29848,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.32,,,deleterious,0.02,3.98877,20.4,P29400_G545R,G,R,545,GR,G545R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.082,-2.222,1.14,,,,,,4.165,4.165,12.11,3.72e-05,0,0.00126966,0.869392
9320,P29400,G,V,545,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0,,,,,,,,,14931,29847,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.32,,,deleterious,0,3.85959,19.61,P29400_G545V,G,V,545,GV,G545V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.082,-3.594,2.512,,,,,,0.371,,12.11,3.72e-05,0,0.00126966,0.7853
9329,P29400,G,V,603,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,16238,28540,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.36,,,deleterious,0,3.88352,19.74,P29400_G603V,G,V,603,GV,G603V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,,,,,,,,,0.000152054,0,0.00518535,0.806438
9338,P29400,G,A,669,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,18958,25820,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.4,,,deleterious,0.01,3.93135,20,P29400_G669A,G,A,669,GA,G669A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.921,-2.588,1.667,,,,,,,,,5.52e-06,0,0.000188079,0.916571
9353,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.48,0.01,,,,,,,,,20571,24207,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,2.03484,12.76,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9392,P29400,S,X,149,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,3639,241,ENSG00000188153,ENST00000505728,,COL4A5,0.86,,,,,3.69136,18.75,P29400_S149X,S,X,149,SX,S149X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,2.47e-05,0,0.000842606,0.98805
9434,P29400,C,R,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,1995,1946,ENSG00000188153,ENST00000504541,,COL4A5,0.53,probably_damaging,0.999,deleterious,0,4.2363,22,P29400_C39R,C,R,39,CR,C39R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.000112376,0,0.00383226,0.975733
9451,O75914,R,X,434,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.04,,,,,,,,,73411,23960,ENSG00000077264,ENST00000372010,CCDS48153.1,PAK3,0.78,,,,,9.29506,42,O75914_R434X,R,X,434,RX,R434X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9591,P00740,Q,X,199,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.48,0.01,,,,,,,,,20485,10822,ENSG00000101981,ENST00000394090,,F9,0.47,,,,,4.85587,27.7,P00740_Q199X,Q,X,199,QX,Q199X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00353815,0.00381679,0.120658,0.955443
9592,P00740,Q,L,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,20486,10821,ENSG00000101981,ENST00000394090,,F9,0.47,possibly_damaging,0.478,deleterious,0,3.96004,20.3,P00740_Q199L,Q,L,199,QL,Q199L,Polar,Hydrophobic,6.24,9.71,3.47,146,131,-15,143.8,166.7,22.9,113,,,,,,,,,,,,0.00353815,0.00381679,0.120658,0.95918
9630,P22304,R,L,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,7358,95,ENSG00000010404,ENST00000541269,,IDS,0.76,probably_damaging,0.999,deleterious,0,4.23501,22,P22304_R257L,R,L,257,RL,R257L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00338882,0,0.115566,0.954803
9631,P22304,R,P,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,7358,95,ENSG00000010404,ENST00000541269,,IDS,0.76,probably_damaging,1,deleterious,0,3.88459,19.74,P22304_R257P,R,P,257,RP,R257P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00338882,0,0.115566,0.936486
9632,P22304,R,Q,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,7358,95,ENSG00000010404,ENST00000541269,,IDS,0.76,probably_damaging,0.999,deleterious,0,4.57692,24.9,P22304_R257Q,R,Q,257,RQ,R257Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00338882,0,0.115566,0.968556
9633,P22304,R,W,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,7357,94,ENSG00000010404,ENST00000541269,,IDS,0.76,probably_damaging,1,deleterious,0,3.69914,18.79,P22304_R257W,R,W,257,RW,R257W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00338882,0,0.115566,0.960989
9634,P22304,Q,L,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,7349,86,ENSG00000010404,ENST00000541269,,IDS,0.75,probably_damaging,0.996,deleterious,0,3.67343,18.67,P22304_Q254L,Q,L,254,QL,Q254L,Polar,Hydrophobic,6.24,9.71,3.47,146,131,-15,143.8,166.7,22.9,113,,,,,,,,,,,,0.00341018,0,0.116294,0.95918
9637,P22304,G,G,163,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.48,0.07,,,,,,,,,3371,149,ENSG00000010404,ENST00000541269,,IDS,0.48,,,,,-0.961226,0.322,P22304_G163G,G,G,163,GG,G163G,Special,Special,3.29,3.29,0,75,75,0,60.1,60.1,0,0,,,,,,,,,,,,0.00352508,0,0.120212,0.977856
9669,Q15738,G,S,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.01,,,,,,,,,27875,8776,ENSG00000147383,ENST00000440023,CCDS14717.1,NSDHL,0.33,probably_damaging,0.998,deleterious,0,5.17515,32,Q15738_G124S,G,S,124,GS,G124S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,,,,,,,,,0.00131838,0,0.0449594,0.750331
9726,P51608,E,G,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.07,,,,,,,,,26353,48,ENSG00000169057,ENST00000407218,,MECP2,0.8,probably_damaging,0.998,deleterious,0,3.6008,18.33,P51608_E137G,E,G,137,EG,E137G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.158,-3.135,1.977,0.353,H,A,0.75,0,,,,0.000953487,0,0.0325159,0.809102
9795,O60832,R,Q,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.03,,,,,,,,,2265,69,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.63,benign,0.403,deleterious,0,3.92429,19.96,O60832_R322Q,R,Q,322,RQ,R322Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.572,-3.439,1.867,0.274,E,B,0.56,0.7,1.287,,73.74,0.00165016,0,0.0562739,0.887083
9816,Q05066,A,T,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.08,,,,,,,,,337,163,ENSG00000184895,ENST00000534739,,SRY,0.68,probably_damaging,0.998,deleterious,0,3.12954,16.46,Q05066_A113T,A,T,113,AT,A113T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,0.175,H,A,0.22,0,,,,0.000592442,0,0.0202035,0.848185
9828,Q05066,V,L,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.48,0.11,,,,,,,,,178,322,ENSG00000184895,ENST00000534739,,SRY,0.36,probably_damaging,0.932,deleterious,0,2.01631,12.7,Q05066_V60L,V,L,60,VL,V60L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.419,-2.421,1.002,0.175,.,B,0.11,0,8.051,,48.04,0.00251554,0,0.0857851,0.817651
107,Q8NEM0,P,S,828,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.49,0.03,0.265,0.186,0.302,0.23,0.2,0.22,0.16,0.29,5785,348,ENSG00000147316,ENST00000344683,CCDS43689.1,MCPH1,0.99,benign,0,tolerated,1,-1.98782,0.007,Q8NEM0_P828S,P,S,828,PS,P828S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-3.072,-2.463,-0.609,0.248,G,A,0.25,0.88,20.333,20.333,92.46,0.0482727,0,1.90908,1.05095
38,Q13148,I,V,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,432,303,ENSG00000120948,ENST00000439080,,TARDBP,0.9,benign,0.001,tolerated,0.19,0.177191,4.954,Q13148_I267V,I,V,267,IV,I267V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.00288541,0.0136054,0.0983985,0.978876
39,Q13148,N,D,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,453,282,ENSG00000120948,ENST00000439080,,TARDBP,0.92,benign,0.055,deleterious,0.01,2.12989,13.08,Q13148_N274D,N,D,274,ND,N274D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,,,,,,,,,,,,0.00189305,0,0.064557,0.986671
67,O95140,W,S,740,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,4458,1702,ENSG00000116688,ENST00000235329,CCDS30587.1,MFN2,0.98,benign,0.345,tolerated,0.19,3.03144,16.11,O95140_W740S,W,S,740,WS,W740S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.301,-3.571,2.27,,,,,,,,,,,,0.717424
100,P05186,A,V,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,6580,3550,ENSG00000162551,ENST00000374840,CCDS217.1,ALPL,0.06,possibly_damaging,0.828,deleterious,0,3.96393,20.3,P05186_A33V,A,V,33,AV,A33V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.255,-2.849,1.594,0.408,H,A,0.44,-0.07,8.246,,89.12,0.00324375,0,0.110618,0.906775
134,P04066,E,X,380,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.03,,,,,,,,,19624,3594,ENSG00000179163,ENST00000374479,CCDS244.2,FUCA1,0.82,,,,,4.55862,24.7,P04066_E380X,E,X,380,EX,E380X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00463068,0,0.157916,0.936869
247,Q92698,G,R,325,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,6202,45,ENSG00000085999,ENST00000371975,CCDS532.1,RAD54L,0.44,probably_damaging,0.999,deleterious,0,5.45675,35,Q92698_G325R,G,R,325,GR,G325R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.069,S,A,0.91,0.49,,,,0.000232393,0,0.00792508,0.626591
252,P23786,D,G,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,3464,145,ENSG00000157184,ENST00000371486,CCDS575.1,CPT2,0.32,probably_damaging,0.999,deleterious,0,4.34032,22.8,P23786_D213G,D,G,213,DG,D213G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.985,-2.95,1.965,0.073,.,B,0.46,-0.36,,,,0.0017133,0,0.0584272,0.627351
316,P78363,V,M,931,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,0.001,0.004,0,0.01,,,0.02,,74080,1409,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.41,possibly_damaging,0.783,deleterious,0,3.55115,18.11,P78363_V931M,V,M,931,VM,V931M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.374,-3.918,2.544,,,,,,2.559,,69.29,,,,0.83633
317,P78363,W,X,855,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.03,,,,,,,,,65993,9496,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.38,,,,,8.09291,40,P78363_W855X,W,X,855,WX,W855X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
362,P26439,X,C,373,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.49,0.03,,,,,,,,,5207,415,ENSG00000203859,ENST00000543831,CCDS902.1,HSD3B2,1,,,,,0.330576,5.793,P26439_X373C,X,C,373,XC,X373C,Stop,Special,5.71,5.07,-0.64,132.5,121,-11.5,141.9,108.5,-33.4,,,,,,,,,,,,,,,,0.934813
397,P43235,G,E,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0,,,,,,,,,660,2068,ENSG00000143387,ENST00000271651,CCDS969.1,CTSK,0.24,probably_damaging,0.998,deleterious,0,4.31698,22.6,P43235_G79E,G,E,79,GE,G79E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.985,-3.405,2.42,,T,A,0.75,-0.99,2.542,,49.24,0.003625,0,0.12362,0.541548
459,P02549,L,F,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,1382,7500,ENSG00000163554,ENST00000368147,,SPTA1,0.02,probably_damaging,0.999,deleterious,0,4.43735,23.6,P02549_L49F,L,F,49,LF,L49F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-0.709,-3.675,2.966,1.175,S,l,0.03,0,,,,0.000136144,0,0.00464278,0.818426
460,P02549,K,R,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,0,0.001,0,,,,,,1380,7502,ENSG00000163554,ENST00000368147,,SPTA1,0.02,possibly_damaging,0.438,tolerated,0.13,4.48854,24.1,P02549_K48R,K,R,48,KR,K48R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.47,-2.002,0.532,0.904,.,B,1.14,0,16.228,16.228,20.46,0.000229323,0,0.00782038,0.972933
499,P25189,I,T,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,148,883,ENSG00000158887,ENST00000360451,,MPZ,0.56,possibly_damaging,0.456,deleterious,0,4.12124,21.3,P25189_I145T,I,T,145,IT,I145T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.0023859,0.00970874,0.0813643,0.976171
500,P25189,N,K,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,137,894,ENSG00000158887,ENST00000360451,,MPZ,0.55,probably_damaging,0.972,deleterious,0,4.29149,22.4,P25189_N141K,N,K,141,NK,N141K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.00336903,0,0.114891,0.958815
528,O60779,W,X,250,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.03,,,,,,,,,8697,13303,ENSG00000117479,ENST00000236137,CCDS1280.1,SLC19A2,0.5,,,,,7.24771,38,O60779_W250X,W,X,250,WX,W250X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00333117,0.00404858,0.1136,0.931205
576,Q6PI48,L,Q,626,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,16731,195,ENSG00000117593,ENST00000361951,CCDS1311.1,DARS2,0.97,probably_damaging,0.958,deleterious,0.01,4.52203,24.4,Q6PI48_L626Q,L,Q,626,LQ,L626Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.223,-4.262,3.039,,,,,,2.435,,77.36,0.00165724,0,0.0565153,0.848179
616,Q05823,E,X,265,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.03,0.003,0.001,0.004,0.002,,0.01,0.002,0.003,960,7893,ENSG00000135828,ENST00000444138,CCDS1347.1,RNASEL,0.36,,,,,5.65081,36,Q05823_E265X,E,X,265,EX,E265X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000630936,0,0.0215162,0.980139
617,Q05823,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.49,0.04,0,0.001,0,,,,,,170,8683,ENSG00000135828,ENST00000444138,CCDS1347.1,RNASEL,0,benign,0.077,deleterious,0.01,3.06952,16.25,Q05823_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.246,-2.985,1.739,,,,,,,,,0.000926152,0.00405405,0.0315837,0.922082
618,Q13753,R,X,245,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,35893,19081,ENSG00000058085,ENST00000264144,CCDS1352.1,LAMC2,0.21,,,,,3.51984,17.98,Q13753_R245X,R,X,245,RX,R245X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
707,O14896,R,Q,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,0.001,,,0.002,,887,10554,ENSG00000117595,ENST00000456314,,IRF6,0.16,probably_damaging,1,deleterious,0,5.67624,36,O14896_R45Q,R,Q,45,RQ,R45Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.572,-3.481,1.909,,,,,,0.523,,41.76,0.00116873,0,0.0398562,0.903729
806,Q96P20,E,G,629,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,6534,464,ENSG00000162711,ENST00000366496,CCDS44346.1,NLRP3,0.64,benign,0.427,deleterious,0,3.24485,16.88,Q96P20_E629G,E,G,629,EG,E629G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.539,-3.061,1.522,,,,,,1.7,,26.54,0.000750729,0,0.0256014,0.908194
901,P61457,C,R,82,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,1879,89,ENSG00000166228,ENST00000299299,CCDS31217.1,PCBD1,0.79,benign,0.182,deleterious,0.02,2.1457,13.13,P61457_C82R,C,R,82,CR,C82R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,0.295,T,A,1.66,-0.67,,,,0.0143155,0.0454545,0.488189,0.592208
1202,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.49,0.01,,,,,,,,,1084,85,,ENSR00000317286,,,,,,,,1.08458,9.427,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1337,P26367,R,X,103,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.09,,,,,,,,,276,7,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.24,,,,,6.95614,38,P26367_R103X,R,X,103,RX,R103X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00155432,0,0.0530056,0.900587
1355,P15918,R,C,396,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,6465,5267,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.38,probably_damaging,0.909,deleterious,0,3.07514,16.27,P15918_R396C,R,C,396,RC,R396C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.064,-4.962,3.898,,,,,,,,,4.68e-05,0,0.00159444,0.780414
1356,P15918,R,H,396,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,0,0,0,,,,,,6466,5266,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.38,possibly_damaging,0.873,deleterious,0,4.57044,24.8,P15918_R396H,R,H,396,RH,R396H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.064,-4.105,3.041,,,,,,,,,4.68e-05,0,0.00159444,0.828773
1368,P15918,R,W,975,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,8202,653,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.93,probably_damaging,0.909,deleterious,0,3.29972,17.09,P15918_R975W,R,W,975,RW,R975W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.181,-5.239,4.058,,,,,,0.356,,72.96,0.00574092,0,0.195777,0.814576
1379,Q93063,Y,X,222,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.07,,,,,,,,,6209,2616,ENSG00000151348,ENST00000358681,CCDS53619.1,EXT2,0.3,,,,,6.54415,37,Q93063_Y222X,Y,X,222,YX,Y222X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00155159,0,0.0529124,0.8948
1500,O15020,L,P,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,636,924,ENSG00000173898,ENST00000533211,CCDS8150.1,SPTBN2,0.11,probably_damaging,0.999,deleterious,0,3.49998,17.89,O15020_L253P,L,P,253,LP,L253P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,0.022,.,A,1.07,-0.43,,,,5.05e-05,0,0.00172329,0.595551
1562,P50416,Y,C,498,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,40106,17785,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.64,probably_damaging,1,deleterious,0,3.35593,17.3,P50416_Y498C,Y,C,498,YC,Y498C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,,,,,,,,,0.00124779,0,0.0425522,0.693929
1565,P50416,W,X,475,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.09,,,,,,,,,34831,23060,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.61,,,,,5.56039,35,P50416_W475X,W,X,475,WX,W475X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00100559,0,0.0342926,0.889194
1575,P50416,R,X,160,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.07,,,,,,,,,11427,46464,ENSG00000110090,ENST00000265641,CCDS8185.1,CPT1A,0.21,,,,,6.66952,38,P50416_R160X,R,X,160,RX,R160X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0013095,0,0.0446566,0.900587
1686,P14679,R,H,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,0.001,0.002,,,,13385,9334,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.57,probably_damaging,0.999,deleterious,0,4.84484,27.6,P14679_R299H,R,H,299,RH,R299H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.851,-4.287,3.436,,,,,,1.677,,52.36,0.000724412,0,0.024704,0.85066
1698,P49959,R,X,572,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,13,1549,ENSG00000020922,ENST00000323977,CCDS8298.1,MRE11A,0.84,,,,,10.4159,43,P49959_R572X,R,X,572,RX,R572X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0012712,0,0.0433504,0.900587
1713,P45452,F,S,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,,,,,,,,,316,11060,ENSG00000137745,ENST00000260302,CCDS8324.1,MMP13,0.16,probably_damaging,0.999,deleterious,0,4.60147,25.1,P45452_F75S,F,S,75,FS,F75S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.295,-3.481,2.186,,,,,,1.928,,78.56,0.00251187,0,0.08566,0.837603
1714,P45452,F,S,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,,,,,,,,,313,11063,ENSG00000137745,ENST00000260302,CCDS8324.1,MMP13,0.16,probably_damaging,0.999,deleterious,0,4.6314,25.4,P45452_F74S,F,S,74,FS,F74S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.149,-3.428,2.279,,,,,,,,,0.000937462,0,0.0319694,0.748237
1752,O14521,Q,X,36,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,958,7254,ENSG00000204370,ENST00000528182,,SDHD,0.27,,,,,4.30455,22.5,O14521_Q36X,Q,X,36,QX,Q36X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00678839,0.00813008,0.231498,0.927707
1816,P08397,Q,X,138,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,1598,184,ENSG00000256269,ENST00000539986,,HMBS,0.74,,,,,8.27369,40,P08397_Q138X,Q,X,138,QX,Q138X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00208253,0,0.0710184,0.963541
1871,Q9UKU7,M,T,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,304,1257,ENSG00000151498,ENST00000543332,,ACAD8,0.24,probably_damaging,0.986,deleterious,0.03,4.40096,23.3,Q9UKU7_M54T,M,T,54,MT,M54T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.00417232,0,0.142285,0.966173
1892,Q09470,R,S,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,,,,,,,,,1716,6155,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.48,probably_damaging,1,deleterious,0,2.98875,15.97,Q09470_R239S,R,S,239,RS,R239S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.398,-3.121,1.723,0.175,T,A,0.93,0.21,,,,0.000360038,0,0.012278,0.813348
1936,P19438,C,S,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,0,0,0,,,,,,137,188,ENSG00000067182,ENST00000366159,,TNFRSF1A,0.27,probably_damaging,1,deleterious,0,3.47587,17.79,P19438_C59S,C,S,59,CS,C59S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.194,-3.203,2.009,0.01,E,B,0.73,-0.44,,,,0.00111013,0,0.0378578,0.624838
1937,P19438,C,R,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,136,189,ENSG00000067182,ENST00000366159,,TNFRSF1A,0.27,probably_damaging,1,deleterious,0,3.12989,16.46,P19438_C59R,C,R,59,CR,C59R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,0.01,E,B,1.66,-0.44,,,,0.00111013,0,0.0378578,0.482637
2203,P00439,P,L,407,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,76760,2174,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.9,possibly_damaging,0.568,tolerated,0.06,4.82952,27.4,P00439_P407L,P,L,407,PL,P407L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,0.556,.,b,1.07,-0.64,,,,0.00478301,0,0.16311,0.611405
2210,P00439,A,G,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,5362,3185,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.71,benign,0.38,deleterious,0,3.28868,17.05,P00439_A322G,A,G,322,AG,A322G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.315,-2.719,1.404,0.019,H,A,0.29,-0.63,3.691,,55.09,0.00225156,0,0.0767828,0.784821
2211,P00439,L,P,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,5329,3218,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.69,probably_damaging,1,deleterious,0,3.55757,18.14,P00439_L311P,L,P,311,LP,L311P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,0.007,T,b,1.07,-0.87,,,,0.00121987,0,0.0416,0.558595
2361,O95452,T,M,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,7512,1496,ENSG00000121742,ENST00000241124,CCDS9291.1,GJB6,0.02,probably_damaging,0.923,tolerated,0.09,0.552401,6.988,O95452_T5M,T,M,5,TM,T5M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.023,-4.53,2.507,,,,,,1.507,,92.34,0.0051711,0,0.176345,0.863872
2382,Q5SZK8,E,K,1974,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,97580,101229,ENSG00000150893,ENST00000280481,CCDS31960.1,FREM2,0.62,possibly_damaging,0.837,deleterious,0.01,3.72872,18.94,Q5SZK8_E1974K,E,K,1974,EK,E1974K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.629,-2.296,0.667,,,,,,23.607,23.607,85.2,,,,0.974507
2613,P06737,E,K,673,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,1926,1913,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.79,probably_damaging,0.978,deleterious,0,5.61053,36,P06737_E673K,E,K,673,EK,E673K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,0.198,.,B,1.3,0.34,,,,0.000351966,0,0.0120028,0.816174
2616,P06737,R,C,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,1193,443,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.58,probably_damaging,1,deleterious,0,4.88877,28.1,P06737_R491C,R,C,491,RC,R491C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.051,I,A,1.66,-0.9,,,,0.000224605,0,0.00765948,0.517114
2617,P06737,V,M,456,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,0.001,0.002,,,,568,183,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.54,probably_damaging,0.997,deleterious,0,5.14252,32,P06737_V456M,V,M,456,VM,V456M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.304,-3.765,2.461,0.017,S,A,0.11,-0.2,,,,0.000184268,0,0.00628392,0.721729
2722,P16473,D,N,410,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,27129,3017,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.54,probably_damaging,0.992,deleterious,0,4.56065,24.7,P16473_D410N,D,N,410,DN,D410N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.71,-3.439,2.729,,,,,,1.479,,38.35,0.000444698,0,0.0151651,0.858314
2757,P01011,M,V,414,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,0.004,0.01,,,,6140,271,ENSG00000196136,ENST00000393078,CCDS32150.1,SERPINA3,0.98,benign,0.003,tolerated,0.06,1.58753,11.26,P01011_M414V,M,V,414,MV,M414V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.899,-2.945,1.046,0.013,E,B,0.11,-0.12,16.503,,93.62,0.0132361,0,0.451379,0.887944
2774,Q04671,N,D,489,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,0.001,0.001,0,,,,,,115930,32874,ENSG00000104044,ENST00000354638,CCDS10020.1,OCA2,0.58,probably_damaging,0.999,deleterious,0,4.74793,26.5,Q04671_N489D,N,D,489,ND,N489D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.162,-2.796,1.634,,,,,,,,,0.000655345,0,0.0223486,0.925044
2851,P35555,C,Y,1086,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,157517,57429,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.38,probably_damaging,0.957,deleterious,0,5.12524,32,P35555_C1086Y,C,Y,1086,CY,C1086Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,,,,0.755919
2853,P35555,E,K,1073,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,157477,57469,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.37,possibly_damaging,0.894,deleterious,0,6.20579,37,P35555_E1073K,E,K,1073,EK,E1073K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,,,,0.860577
2868,P11511,G,S,210,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,6,85,ENSG00000137869,ENST00000557858,,CYP19A1,0.96,benign,0.021,deleterious,0,4.29664,22.5,P11511_G210S,G,S,210,GS,G210S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00227455,0,0.077567,0.975197
2916,P06865,R,L,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,7349,1973,ENSG00000213614,ENST00000566304,,HEXA,0.35,probably_damaging,0.999,deleterious,0,5.5535,35,P06865_R189L,R,L,189,RL,R189L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00312777,0,0.106663,0.954803
2917,P06865,R,H,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,0,0,0,,,,,,7349,1973,ENSG00000213614,ENST00000566304,,HEXA,0.35,probably_damaging,0.999,deleterious,0,5.59195,35,P06865_R189H,R,H,189,RH,R189H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00312777,0,0.106663,0.975921
2920,P06865,R,W,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,7324,1998,ENSG00000213614,ENST00000566304,,HEXA,0.34,probably_damaging,1,deleterious,0,4.2311,22,P06865_R181W,R,W,181,RW,R181W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00348099,0,0.118709,0.960989
2998,P08069,K,N,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,71,183718,ENSG00000140443,ENST00000558762,,IGF1R,0.11,probably_damaging,0.973,deleterious,0,3.98188,20.4,P08069_K145N,K,N,145,KN,K145N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-1.166,-3.225,2.059,0.503,.,l,1.73,-0.83,,,,0.000327631,0,0.0111729,0.703694
3000,P08069,R,Q,739,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,5677,81,ENSG00000140443,ENST00000558762,,IGF1R,0.54,possibly_damaging,0.669,deleterious,0.01,5.89526,36,P08069_R739Q,R,Q,739,RQ,R739Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.000707474,0,0.0241263,0.890849
3061,Q92793,Y,C,1175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,9939,18280,ENSG00000005339,ENST00000262367,CCDS10509.1,CREBBP,0.48,,,,,2.72093,15.06,Q92793_Y1175C,Y,C,1175,YC,Y1175C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.282,-4.598,3.316,0.525,H,A,0.25,0,,,,,,,0.635807
3241,P51170,E,K,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,0.007,0.003,0.009,0.003,,0.003,,0.01,6927,27242,ENSG00000166828,ENST00000300061,CCDS10608.1,SCNN1G,0.3,benign,0.004,tolerated,0.32,1.28792,10.21,P51170_E197K,E,K,197,EK,E197K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.853,-2.353,0.5,,,,,,23.31,23.31,88.6,0.00150316,0,0.0512608,1.01104
3258,Q86YC2,G,X,796,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.03,,,,,,,,,8168,5697,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.67,,,,,5.15992,32,Q86YC2_G796X,G,X,796,GX,G796X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.00110655,0,0.0377355,0.900721
3311,Q9NSC2,R,X,276,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,9202,4064,ENSG00000103449,ENST00000251020,CCDS10747.1,SALL1,0.21,,,,,4.79655,27.1,Q9NSC2_R276X,R,X,276,RX,R276X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3367,P12830,A,T,556,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,0.016,0.047,0,0.01,,0.003,0.04,,450,933,ENSG00000039068,ENST00000422392,,CDH1,0.68,benign,0.223,tolerated,0.35,1.36185,10.48,P12830_A556T,A,T,556,AT,A556T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00127248,0,0.0433942,0.918041
3503,O75352,L,S,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0,,,,,,,,,473,184,ENSG00000129255,ENST00000581380,,MPDU1,0.42,,,,,2.40583,14,O75352_L64S,L,S,64,LS,L64S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,,,,,,,,,,,,0.00645901,0,0.220265,0.887786
3891,P35499,M,V,1370,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,29913,4452,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.75,probably_damaging,0.98,deleterious,0,3.8564,19.59,P35499_M1370V,M,V,1370,MV,M1370V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.104,-2.792,1.688,,,,,,,,,0.000145823,0,0.00497287,0.911518
3920,P63252,P,L,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,,,,,,,,,6061,728,ENSG00000123700,ENST00000535240,CCDS11688.1,KCNJ2,0.44,probably_damaging,1,deleterious,0,4.03395,20.7,P63252_P186L,P,L,186,PL,P186L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,0.218,G,A,1.07,-0.8,,,,0.00057821,0,0.0197181,0.675758
3922,P63252,R,W,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,6156,633,ENSG00000123700,ENST00000535240,CCDS11688.1,KCNJ2,0.51,probably_damaging,1,deleterious,0,2.55653,14.51,P63252_R218W,R,W,218,RW,R218W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.603,S,B,1.67,0.62,,,,0.000543831,0,0.0185458,0.77719
4047,Q14126,V,M,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,0.003,0.001,0.004,0.001,,,,0.001,21667,2722,ENSG00000046604,ENST00000585206,,DSG2,0.24,,,,,1.74929,11.81,Q14126_V56M,V,M,56,VM,V56M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.474,-4.222,2.748,0.2,E,B,0.11,0,1.453,,80.41,0.000598405,0,0.0204069,0.751142
4213,P06213,F,V,409,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.11,,,,,,,,,121668,60078,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.3,probably_damaging,0.97,deleterious,0.01,3.91533,19.91,P06213_F409V,F,V,409,FV,F409V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.592,-2.926,1.334,0.018,G,a,0.14,-0.71,6.393,,66.71,0.000606736,0,0.0206909,0.789788
4217,P06213,W,X,160,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.11,,,,,,,,,26483,155263,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.12,,,,,7.13087,38,P06213_W160X,W,X,160,WX,W160X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,9.78e-05,0,0.00333387,0.964448
4692,P22888,L,R,430,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,18630,758,ENSG00000138039,ENST00000405626,,LHCGR,0.64,probably_damaging,1,deleterious,0,3.96305,20.3,P22888_L430R,L,R,430,LR,L430R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.000464685,0,0.0158467,0.979832
4703,P23945,T,I,387,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,33839,326,ENSG00000170820,ENST00000346173,,FSHR,0.61,probably_damaging,0.99,deleterious,0,4.02865,20.7,P23945_T387I,T,I,387,TI,T387I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.000852927,0,0.0290866,0.990755
4704,P23945,T,A,387,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,33838,325,ENSG00000170820,ENST00000346173,,FSHR,0.61,probably_damaging,0.956,deleterious,0,3.07302,16.26,P23945_T387A,T,A,387,TA,T387A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,0.000852927,0,0.0290866,0.991149
4705,P23945,A,T,357,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0,,,,,,,,,33748,235,ENSG00000170820,ENST00000346173,,FSHR,0.56,probably_damaging,0.984,deleterious,0,4.40647,23.4,P23945_A357T,A,T,357,AT,A357T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000701531,0,0.0239236,0.995499
4716,Q96PE7,R,X,3,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.01,0,0,0.001,,,,,,7,239,ENSG00000124370,ENST00000413592,,MCEE,0.04,,,,,4.41274,23.4,Q96PE7_R3X,R,X,3,RX,R3X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4717,O75923,G,R,330,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,50326,169621,ENSG00000135636,ENST00000409582,CCDS46324.1,DYSF,0.16,probably_damaging,1,deleterious,0,4.09605,21.1,O75923_G330R,G,R,330,GR,G330R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.000303061,0,0.010335,0.972859
4718,O75923,G,W,330,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,50326,169621,ENSG00000135636,ENST00000409582,CCDS46324.1,DYSF,0.16,probably_damaging,1,deleterious,0,3.72117,18.9,O75923_G330W,G,W,330,GW,G330W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,,,,,,,,,,,,0.000303061,0,0.010335,0.967687
4736,Q14203,G,A,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,2217,31,ENSG00000204843,ENST00000394003,CCDS54369.1,DCTN1,0.06,probably_damaging,0.998,deleterious,0,4.24923,22.1,Q14203_G71A,G,A,71,GA,G71A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-1.176,-2.842,1.666,,S,g,0.29,0,2.692,,87.09,0.000127047,0,0.00433258,0.872094
4737,Q14203,G,E,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,2217,31,ENSG00000204843,ENST00000394003,CCDS54369.1,DCTN1,0.06,probably_damaging,1,deleterious,0,4.35644,23,Q14203_G71E,G,E,71,GE,G71E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.176,-3.545,2.369,,S,g,0.75,0,1.77,,87.09,0.000127047,0,0.00433258,0.69542
4762,Q6P4Q7,L,P,324,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,1068,49922,ENSG00000158158,ENST00000377075,CCDS2024.2,CNNM4,0.42,probably_damaging,0.99,deleterious,0,3.21777,16.78,Q6P4Q7_L324P,L,P,324,LP,L324P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.202,-2.164,0.962,,,,,,33.578,33.578,67.87,0.000280643,0,0.00957049,0.958412
4774,Q16281,R,Q,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,0,0,0,,,,,,18730,1327,ENSG00000144191,ENST00000409937,,CNGA3,0.41,probably_damaging,0.977,deleterious,0,4.79014,27,Q16281_R287Q,R,Q,287,RQ,R287Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00112721,0,0.0384401,0.925972
4792,P18510,E,X,59,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0,0,0,0,,,,,,3507,947,ENSG00000136689,ENST00000354115,CCDS2113.1,IL1RN,0.37,,,,,1.69136,11.61,P18510_E59X,E,X,59,EX,E59X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
4867,P35498,R,H,1648,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.11,,,,,,,,,81290,1087,ENSG00000144285,ENST00000423058,,SCN1A,0.82,probably_damaging,1,deleterious,0,5.04556,29.9,P35498_R1648H,R,H,1648,RH,R1648H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,6.17e-05,0,0.002103,0.830362
4905,P02708,S,I,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,14331,2272,ENSG00000138435,ENST00000409542,,CHRNA1,0.55,,,tolerated,0.12,2.88042,15.6,P02708_S207I,S,I,207,SI,S207I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-2.225,-3.453,1.228,,,,,,11.267,11.267,87.14,0.00232672,0,0.0793458,0.954537
4952,P05997,G,R,1149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,136703,11281,ENSG00000204262,ENST00000374866,CCDS33350.1,COL5A2,0.77,,,deleterious,0,4.37058,23.1,P05997_G1149R,G,R,1149,GR,G1149R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,0,,,,0.000217393,0,0.00741356,0.666016
4955,Q9NP59,Q,H,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,15320,55,ENSG00000138449,ENST00000261024,CCDS2299.1,SLC40A1,0.32,probably_damaging,0.999,deleterious,0.01,3.84407,19.53,Q9NP59_Q182H,Q,H,182,QH,Q182H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-1.25,-4.047,2.797,,,,,,,,,0.00140125,0,0.0477855,0.744497
4956,Q9NP59,D,V,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,15316,59,ENSG00000138449,ENST00000261024,CCDS2299.1,SLC40A1,0.32,probably_damaging,1,deleterious,0,5.02237,29.6,Q9NP59_D181V,D,V,181,DV,D181V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-0.985,-3.571,2.586,,,,,,,,,0.000484718,0,0.0165299,0.81439
4959,Q9NP59,G,V,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,5549,32,ENSG00000138449,ENST00000261024,CCDS2299.1,SLC40A1,0.14,probably_damaging,0.977,tolerated,0.17,4.46233,23.8,Q9NP59_G80V,G,V,80,GV,G80V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,0.000600183,0,0.0204675,0.802014
4990,Q13873,R,X,899,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,178926,11392,ENSG00000204217,ENST00000374580,CCDS33361.1,BMPR2,0.87,,,,,10.3298,43,Q13873_R899X,R,X,899,RX,R899X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00179617,0,0.061253,0.948631
5268,Q9BZ23,R,C,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,562,2688,ENSG00000125779,ENST00000316562,CCDS13071.2,PANK2,0.49,probably_damaging,0.999,deleterious,0,3.97844,20.4,Q9BZ23_R278C,R,C,278,RC,R278C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,0.094,E,B,1.66,0.05,,,,0.00178852,0,0.0609923,0.592231
5269,Q9BZ23,R,C,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,,,,,,,,,538,2664,ENSG00000125779,ENST00000316562,CCDS13071.2,PANK2,0.5,possibly_damaging,0.729,deleterious,0.02,4.35579,22.9,Q9BZ23_R286C,R,C,286,RC,R286C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.447,-2.341,0.894,0.427,E,B,1.66,-0.22,25.861,25.861,53.51,0.00203756,0,0.0694851,0.769604
5281,Q8NFJ6,M,I,323,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.09,,,,,,,,,12144,186,ENSG00000101292,ENST00000546004,CCDS13089.1,PROKR2,0.84,possibly_damaging,0.494,tolerated,0.07,4.07435,20.9,Q8NFJ6_M323I,M,I,323,MI,M323I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.541,-2.887,1.346,,,,,,,,,0.00255599,0,0.0871644,0.918275
5292,Q9NPJ1,T,A,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,18577,8162,ENSG00000125863,ENST00000399054,CCDS13111.1,MKKS,0.1,probably_damaging,0.995,deleterious,0,2.95136,15.84,Q9NPJ1_T57A,T,A,57,TA,T57A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.183,-2.727,1.544,,,,,,9.507,,87.02,0.000847141,0,0.0288893,0.974439
5499,Q9Y6J6,F,L,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,4693,147,ENSG00000159197,ENST00000290310,CCDS13635.1,KCNE2,0.49,probably_damaging,0.991,deleterious,0,5.10166,31,Q9Y6J6_F60L,F,L,60,FL,F60L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.149,-2.725,1.576,,,,,,,,,0.00379594,0,0.129449,0.884077
5788,Q9BXW9,R,H,1236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,5033,8995,ENSG00000144554,ENST00000383807,CCDS33696.1,FANCD2,0.85,possibly_damaging,0.895,deleterious,0,4.59711,25,Q9BXW9_R1236H,R,H,1236,RH,R1236H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.535,-2.601,1.066,,,,,,28.857,28.857,81.51,,,,0.953754
5802,P40337,R,W,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,0,0,0,,,,,,7375,225,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.92,probably_damaging,0.995,deleterious,0,4.28274,22.4,P40337_R159W,R,W,159,RW,R159W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.010498,0,0.358004,0.931955
5829,P43251,F,V,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,43094,393,ENSG00000169814,ENST00000383778,,BTD,0.73,probably_damaging,0.999,deleterious,0,4.63813,25.4,P43251_F383V,F,V,383,FV,F383V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,,,,,,,,,,,,0.0037482,0.00625,0.127821,0.960289
5830,P10828,F,C,459,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,42702,56,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,1,probably_damaging,0.997,deleterious,0,4.58379,24.9,P10828_F459C,F,C,459,FC,F459C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.351,-4.598,3.247,0.166,H,A,0.12,0.57,,,,0.051983,0,1.77273,0.65333
5875,P16278,R,Q,427,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,13381,110,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.66,probably_damaging,0.99,deleterious,0,5.49754,35,P16278_R427Q,R,Q,427,RQ,R427Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00286649,0,0.0977532,0.968556
5876,P16278,R,X,427,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.01,,,,,,,,,13380,111,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.66,,,,,5.89967,36,P16278_R427X,R,X,427,RX,R427X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00286649,0,0.0977532,0.951177
5900,P40692,K,X,220,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0,,,,,,,,,3,60,ENSG00000076242,ENST00000455445,CCDS54563.1,MLH1,0.43,,,,,8.44358,40,P40692_K220X,K,X,220,KX,K220X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00145119,0,0.0494884,0.904853
5940,P41597,V,I,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,0.112,0.158,0.092,0.17,0.22,0.19,0.2,0.1,228,176,ENSG00000121807,ENST00000292301,CCDS43078.1,CCR2,0.17,benign,0.187,tolerated,0.23,1.51237,11.01,P41597_V64I,V,I,64,VI,V64I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.427,-1.921,0.494,,,,,,18.804,18.804,69.25,0.00285612,0,0.0973995,1.02501
6019,O75369,C,W,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,238,92051,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.07,probably_damaging,1,deleterious,0,3.24295,16.87,O75369_C183W,C,W,183,CW,C183W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.293,-4.874,3.581,0.01,S,b,0.01,-0.21,,,,3.54e-05,0,0.00120587,0.643416
6043,P11177,Y,C,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0,,,,,,,,,2964,484,ENSG00000168291,ENST00000302746,CCDS2890.1,PDHB,0.37,probably_damaging,1,deleterious,0,4.41093,23.4,P11177_Y132C,Y,C,132,YC,Y132C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.282,-4.598,3.316,0.006,H,A,0.25,-0.6,,,,0.000315614,0,0.0107631,0.614688
6091,P36551,R,W,331,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.09,,,,,,,,,124,4214,ENSG00000080819,ENST00000264193,CCDS2932.1,CPOX,0.73,probably_damaging,0.997,deleterious,0.02,4.043,20.8,P36551_R331W,R,W,331,RW,R331W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.625,-5.158,3.533,,,,,,0.336,,64.76,,,,0.794247
6100,Q93099,R,S,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,0,,,,,3337,5137,ENSG00000113924,ENST00000494453,,HGD,0.95,probably_damaging,1,deleterious,0,3.36425,17.34,Q93099_R137S,R,S,137,RS,R137S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,,,,,,,,,,,,0.0036151,0,0.123282,0.938206
6119,P41180,T,M,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,2977,331,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.13,probably_damaging,0.977,tolerated,0.06,4.64602,25.5,P41180_T138M,T,M,138,TM,T138M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.272,-3.423,1.151,,,,,,5.785,5.785,34.69,0.00142079,0.00106383,0.0484519,0.912416
6213,P05166,E,K,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,0,0,0,,,,,,1874,2,ENSG00000114054,ENST00000462542,,PCCB,0.76,probably_damaging,0.995,deleterious,0,5.83643,36,P05166_E124K,E,K,124,EK,E124K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
6290,P11168,W,X,420,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.03,,,,,,,,,28413,553,ENSG00000163581,ENST00000314251,CCDS3215.1,SLC2A2,0.8,,,,,6.50286,37,P11168_W420X,W,X,420,WX,W420X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00194275,0,0.0662517,0.940107
6314,Q96RQ3,R,S,250,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,57565,21509,ENSG00000078070,ENST00000539926,,MCCC1,0.59,probably_damaging,0.978,deleterious,0,3.26768,16.97,Q96RQ3_R250S,R,S,250,RS,R250S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,,,,,,,,,,,,0.00260746,0,0.0889197,0.939012
6332,Q13144,E,K,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,44,51,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.27,probably_damaging,0.922,deleterious,0.04,4.39119,23.2,Q13144_E198K,E,K,198,EK,E198K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.318,-2.956,1.638,,,,,,1.791,,39.53,0.00168061,0,0.0573123,0.911062
6361,Q13144,E,K,650,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,123,468,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.9,probably_damaging,0.997,deleterious,0.01,5.40191,34,Q13144_E650K,E,K,650,EK,E650K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,0.096,H,A,1.3,-0.19,,,,0.00263231,0,0.0897671,0.710535
6377,Q9H3D4,R,G,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,78795,4980,ENSG00000073282,ENST00000392461,,TP63,0.58,probably_damaging,0.987,deleterious,0,4.47713,24,Q9H3D4_R243G,R,G,243,RG,R243G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.582,-3.04,1.458,0.009,.,.,0.91,0,,,,0.000424879,0,0.0144893,0.748967
6378,Q9H3D4,R,Q,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,78796,4979,ENSG00000073282,ENST00000392461,,TP63,0.58,probably_damaging,0.953,deleterious,0,5.21638,33,Q9H3D4_R243Q,R,Q,243,RQ,R243Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,0.009,.,.,0.56,0,,,,0.000424879,0,0.0144893,0.810914
6387,Q9Y5I7,W,X,117,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.08,,,,,,,,,14242,2569,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.38,,,,,7.2359,38,Q9Y5I7_W117X,W,X,117,WX,W117X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0025152,0,0.0857734,0.940601
6392,Q9Y5I7,L,P,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,16714,97,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.55,probably_damaging,0.97,deleterious,0,4.42854,23.5,Q9Y5I7_L167P,L,P,167,LP,L167P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.401,-3.941,2.54,,,,,,1.196,,80.66,0.00774915,0,0.264262,0.799616
6463,P57679,R,X,340,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.05,,,,,,,,,37011,142,ENSG00000072840,ENST00000382674,CCDS3383.1,EVC,0.34,,,,,5.83559,36,P57679_R340X,R,X,340,RX,R340X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000979419,0,0.0334002,0.908362
6545,Q86XX4,Q,X,1234,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,58191,44266,ENSG00000138759,ENST00000512123,,FRAS1,0.55,,,,,8.7986,41,Q86XX4_Q1234X,Q,X,1234,QX,Q1234X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6681,P03951,C,R,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,5519,3179,ENSG00000088926,ENST00000264692,,F11,0.1,probably_damaging,0.999,deleterious,0,2.68592,14.94,P03951_C56R,C,R,56,CR,C56R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.111,-4.014,2.903,,.,a,1.66,-1.05,,,,0.000468677,0,0.0159828,0.48929
6720,P48643,H,R,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,,,,0,,,,,5524,2185,ENSG00000150753,ENST00000280326,CCDS3877.1,CCT5,0.27,benign,0.008,tolerated,0.41,2.57308,14.56,P48643_H147R,H,R,147,HR,H147R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-2.058,-3.274,1.216,,,,,-0.8,9.293,,86.69,0.00330854,0,0.112828,0.816941
6769,P10643,C,X,750,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0,,,,,,,,,3146,542,ENSG00000112936,ENST00000313164,CCDS47201.1,C7,0.89,,,,,9.62127,42,P10643_C750X,C,X,750,CX,C750X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00216333,0,0.0737741,0.962227
6916,Q9UH77,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.49,0.03,,,,,,,,,11014,1203,ENSG00000146021,ENST00000506491,,KLHL3,,,,,,3.83871,19.5,Q9UH77_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6958,P50443,G,E,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,0,0,0,,,,,,2377,7049,ENSG00000155850,ENST00000286298,CCDS4300.1,SLC26A2,0.35,probably_damaging,1,deleterious,0,4.13751,21.4,P50443_G255E,G,E,255,GE,G255E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.763,-3.521,2.758,,,,,,,,,0.000885873,0,0.0302101,0.793437
6988,P18507,K,M,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,54634,31,ENSG00000113327,ENST00000393933,,GABRG2,0.63,probably_damaging,0.976,deleterious,0,5.00738,29.5,P18507_K233M,K,M,233,KM,K233M,PositiveCharge,Hydrophobic,9.74,5.74,-4,146,149,3,168.6,162.9,-5.7,95,,,,,,,,,,,,,,,0.947925
7104,Q30201,G,R,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,3602,1942,ENSG00000010704,ENST00000470149,,HFE,0.27,probably_damaging,1,tolerated,0.1,3.71645,18.87,Q30201_G93R,G,R,93,GR,G93R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.787,-2.858,1.071,0.172,H,A,0.91,-1.31,12.16,12.16,29.02,0.00317311,0,0.10821,0.733518
7152,P23942,R,Q,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,,,,,,,,,755,25218,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.5,benign,0.136,deleterious,0.01,3.41718,17.55,P23942_R172Q,R,Q,172,RQ,R172Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.639,-3.471,1.832,,,,,,4.217,,79.19,0.00360443,0,0.122918,0.956973
7153,P23942,R,W,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,,,,,,,,,754,25219,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.5,probably_damaging,0.967,deleterious,0,3.75142,19.05,P23942_R172W,R,W,172,RW,R172W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.639,-2.564,0.925,,,,,,24.827,24.827,79.19,0.00360443,0,0.122918,0.963453
7166,Q9Y253,K,T,527,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,7987,1480,ENSG00000170734,ENST00000535400,,POLH,0.81,benign,0.001,tolerated,0.6,-0.339711,2.392,Q9Y253_K527T,K,T,527,KT,K527T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,,,,,,,,,,,,0.00110703,0,0.0377521,0.919015
7189,Q02094,G,E,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,24334,6783,ENSG00000112077,ENST00000229810,,RHAG,0.79,probably_damaging,0.999,deleterious,0,5.09208,31,Q02094_G279E,G,E,279,GE,G279E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.751,-3.88,3.129,,H,A,0.75,-0.37,2.488,,55.01,0.00171081,0,0.0583423,0.560844
7256,P17302,H,P,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,11736,2300,ENSG00000152661,ENST00000282561,CCDS5123.1,GJA1,0.51,probably_damaging,0.986,deleterious,0,3.08079,16.29,P17302_H194P,H,P,194,HP,H194P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-1.593,-3.691,2.098,,,,,,0.676,,35.08,0.00215533,0,0.073501,0.865016
7303,Q8NF91,V,L,2911,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,6474,18685,ENSG00000131018,ENST00000356820,,SYNE1,0.88,probably_damaging,0.998,tolerated,0.32,3.88643,19.75,Q8NF91_V2911L,V,L,2911,VL,V2911L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,,,,0.956188
7353,P99999,G,S,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,1254,280,ENSG00000172115,ENST00000409409,CCDS5393.1,CYCS,0.4,possibly_damaging,0.884,deleterious,0.01,5.82793,36,P99999_G42S,G,S,42,GS,G42S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,,,,,,,,0.814173
7356,O43364,Q,K,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,1511,1199,ENSG00000105996,ENST00000222718,CCDS5403.1,HOXA2,0.49,probably_damaging,1,deleterious,0,3.9407,20.1,O43364_Q186K,Q,K,186,QK,Q186K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,-1.489,-2.742,1.253,,,,,,,,,0.000702935,0,0.0239715,0.924208
7394,P10071,R,X,792,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.07,,,,,,,,,184802,3571,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.5,,,,,7.68933,39,P10071_R792X,R,X,792,RX,R792X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000218191,0,0.00744077,0.977351
7552,O43511,R,H,409,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,29565,27610,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.52,probably_damaging,1,deleterious,0,5.01705,29.6,O43511_R409H,R,H,409,RH,R409H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.049,-4.563,3.514,,,,,,1.107,,46.03,0.00051018,0,0.0173982,0.854505
7576,P08581,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.49,0.05,,,,,,,,,1652,17516,ENSG00000105976,ENST00000539704,,MET,0,probably_damaging,1,deleterious,0,4.50214,24.2,P08581_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.655,-3.111,1.456,,,,,,2.765,,33.67,0.000337216,0,0.0114998,0.936865
7658,P13569,Q,H,1322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,0.004,0.01,,,,184685,2292,ENSG00000001626,ENST00000426809,,CFTR,0.92,probably_damaging,1,deleterious,0,3.66106,18.61,P13569_Q1322H,Q,H,1322,QH,Q1322H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,,,,,,,,,,,,0.00121923,0,0.0415784,0.927071
7789,P06858,S,C,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,15203,23,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.42,probably_damaging,0.999,deleterious,0,4.89267,28.1,P06858_S199C,S,C,199,SC,S199C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.146,-4.454,3.308,,,,,,,,,0.001179,0,0.0402065,0.737543
7791,P06858,D,E,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,15228,48,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.44,probably_damaging,0.999,deleterious,0,3.41179,17.53,P06858_D207E,D,E,207,DE,D207E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-0.985,-2.582,1.597,,,,,,,,,0.000850733,0,0.0290118,0.919755
7795,P06858,D,E,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,15300,120,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.49,probably_damaging,0.933,deleterious,0,4.37031,23.1,P06858_D231E,D,E,231,DE,D231E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-0.985,-2.582,1.597,,,,,,,,,0.000511125,0,0.0174304,0.919755
7856,P11362,N,I,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.08,,,,,,,,,1,46,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.33,probably_damaging,0.993,deleterious,0,4.71235,26.2,P11362_N239I,N,I,239,NI,N239I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,,,,,,,,,,,,0.000401022,0,0.0136757,0.978109
7971,Q9UHF7,R,X,615,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.05,,,,,,,,,15962,88909,ENSG00000104447,ENST00000520276,,TRPS1,0.48,,,,,3.32115,17.17,Q9UHF7_R615X,R,X,615,RX,R615X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7976,Q16394,Y,X,119,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.11,,,,,,,,,276,280453,ENSG00000182197,ENST00000378204,CCDS6324.1,EXT1,0.16,,,,,12.2991,46,Q16394_Y119X,Y,X,119,YX,Y119X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000637078,0,0.0217257,0.970188
7997,P01266,C,S,1996,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,24,11950,ENSG00000042832,ENST00000220616,CCDS34944.1,TG,0.72,probably_damaging,0.999,deleterious,0,3.52564,18,P01266_C1996S,C,S,1996,CS,C1996S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.194,-3.203,2.009,,,,,,,,,0.000138287,0,0.00471588,0.852401
8045,Q7Z2E3,H,R,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,2964,27,ENSG00000137074,ENST00000463596,,APTX,0.59,probably_damaging,0.999,deleterious,0,2.70148,14.99,Q7Z2E3_H201R,H,R,201,HR,H201R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00605324,0,0.206428,0.958879
8083,Q9Y223,M,V,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,3261,28947,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.24,probably_damaging,0.987,deleterious,0,3.97011,20.3,Q9Y223_M171V,M,V,171,MV,M171V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-2.009,-2.849,0.84,,,,,,2.564,,77.03,0.00149393,0,0.050946,0.980175
8172,P37058,R,Q,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,0,0,0,,,,,,5,4508,ENSG00000130948,ENST00000375263,CCDS6716.1,HSD17B3,0.26,probably_damaging,0.996,deleterious,0,3.34897,17.28,P37058_R80Q,R,Q,80,RQ,R80Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.00218311,0,0.0744487,0.876289
8173,P37058,R,W,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,6,4509,ENSG00000130948,ENST00000375263,CCDS6716.1,HSD17B3,0.26,probably_damaging,1,deleterious,0,2.54275,14.46,P37058_R80W,R,W,80,RW,R80W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.00218311,0,0.0744487,0.785283
8203,O95477,R,W,1680,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,129734,17502,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.74,probably_damaging,1,deleterious,0,4.03113,20.7,O95477_R1680W,R,W,1680,RW,R1680W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.572,-5.053,3.481,,,,,,0.539,,91.99,0.000282365,0,0.00962921,0.858085
8275,Q53GS7,I,T,684,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,2563,341,ENSG00000119392,ENST00000309971,CCDS35154.1,GLE1,0.98,possibly_damaging,0.539,deleterious,0,4.58441,24.9,Q53GS7_I684T,I,T,684,IT,I684T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.417,-3.324,1.907,,,,,,4.341,,86.96,0.0336185,0,1.14646,0.915565
8278,O14656,D,H,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,0.102,0.027,0.14,0.08,0.05,0.07,0.01,0.15,160,129,ENSG00000136827,ENST00000351698,CCDS6930.1,TOR1A,0.65,possibly_damaging,0.684,deleterious,0.01,3.63471,18.49,O14656_D216H,D,H,216,DH,D216H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.857,-4.375,2.518,,,,,,1.605,,65.96,0.00576192,0,0.196493,0.840296
8490,P11532,R,X,2905,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,30152,11,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.79,,,,,16.7637,50,P11532_R2905X,R,X,2905,RX,R2905X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8522,P04839,R,X,73,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.03,,,,,,,,,3501,27539,ENSG00000165168,ENST00000378588,CCDS14242.1,CYBB,0.13,,,,,5.74239,36,P04839_R73X,R,X,73,RX,R73X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000495015,0,0.016881,0.977351
8696,P00480,L,F,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.09,,,,,,,,,2285,20,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.54,benign,0.076,tolerated,0.07,2.7727,15.23,P00480_L191F,L,F,191,LF,L191F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.788,-2.867,1.079,,E,B,0.03,-0.73,18.293,18.293,76.55,0.00602154,0,0.205347,0.868367
8703,P00480,D,N,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,2300,5,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.55,probably_damaging,1,deleterious,0,5.75803,36,P00480_D196N,D,N,196,DN,D196N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.711,-3.439,2.728,0.067,.,B,0.14,0,1.667,,58.76,0.000696336,0,0.0237465,0.698979
8704,P00480,D,Y,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,2300,5,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.55,probably_damaging,1,deleterious,0,5.03349,29.8,P00480_D196Y,D,Y,196,DY,D196Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-0.711,-4.519,3.808,0.067,.,B,0.96,0,1.313,,58.76,0.000696336,0,0.0237465,0.587107
8705,P00480,D,V,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,2301,4,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.55,probably_damaging,1,deleterious,0,4.90395,28.3,P00480_D196V,D,V,196,DV,D196V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-0.711,-3.833,3.122,0.067,.,B,1.19,0,5.631,,58.76,0.000696336,0,0.0237465,0.602192
8713,P00480,H,Y,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,2318,14,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.57,probably_damaging,0.986,tolerated,0.08,4.07364,20.9,P00480_H202Y,H,Y,202,HY,H202Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.524,-2.91,1.386,0.024,H,A,0.38,-0.27,13.808,13.808,76.55,0.00528642,0,0.180278,0.846917
8714,P00480,H,P,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,2319,15,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.57,probably_damaging,0.99,deleterious,0.02,4.65836,25.6,P00480_H202P,H,P,202,HP,H202P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-1.524,-3.437,1.913,0.024,H,A,0.35,-0.27,29.069,29.069,76.55,0.00528642,0,0.180278,0.81165
8719,P00480,S,N,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,2334,30,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.58,possibly_damaging,0.566,deleterious,0,4.67679,25.8,P00480_S207N,S,N,207,SN,S207N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-2.192,-3.436,1.244,,T,a,0.34,-0.66,13.689,13.689,35.03,0.00457365,0,0.155971,0.789959
8720,P00480,S,R,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,2335,31,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.58,probably_damaging,0.996,deleterious,0,3.86189,19.62,P00480_S207R,S,R,207,SR,S207R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-2.192,-4.242,2.05,,T,a,0.93,-0.66,2.48,,35.03,0.00457365,0,0.155971,0.56525
8721,P00480,A,T,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,2336,32,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.59,probably_damaging,0.975,deleterious,0.03,5.03321,29.8,P00480_A208T,A,T,208,AT,A208T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.658,-3.293,1.635,0.029,T,A,0.22,-0.45,10.212,10.212,75.71,0.00630758,0,0.215101,0.820822
8725,P00480,L,F,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,2357,53,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.61,probably_damaging,0.923,tolerated,0.06,4.33117,22.8,P00480_L215F,L,F,215,LF,L215F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.83,-2.419,0.589,0.051,E,B,0.03,-0.38,17.531,17.531,79.94,0.00598807,0,0.204206,0.929888
8831,O14936,W,R,890,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,410,110,ENSG00000147044,ENST00000421587,CCDS48094.1,CASK,0.99,probably_damaging,0.999,deleterious,0,2.88126,15.6,O14936_W890R,W,R,890,WR,W890R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00382691,0,0.130506,0.952892
8837,P21397,Q,X,163,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,75481,402,ENSG00000189221,ENST00000542639,,MAOA,0.41,,,,,8.55157,41,P21397_Q163X,Q,X,163,QX,Q163X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00315147,0,0.107472,0.955443
8915,P51795,G,E,506,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,19368,3540,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.68,probably_damaging,0.998,deleterious,0,4.57759,24.9,P51795_G506E,G,E,506,GE,G506E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.069,-3.484,2.415,,,,,,9.027,,87.4,0.000886966,0,0.0302474,0.866802
8918,P51795,R,X,704,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.08,,,,,,,,,21347,1561,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.94,,,,,8.611,41,P51795_R704X,R,X,704,RX,R704X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00214708,0,0.0732198,0.959768
8961,P22557,A,T,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,743,751,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.28,possibly_damaging,0.897,deleterious,0,5.4897,35,P22557_A159T,A,T,159,AT,A159T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00149062,0,0.0508331,0.917303
9004,P10275,H,Y,343,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,154812,236,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.88,possibly_damaging,0.511,deleterious,0.02,4.07656,21,P10275_H343Y,H,Y,343,HY,H343Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.000453138,0,0.0154529,0.993833
9034,P31785,X,R,66,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.49,0.07,,,,,,,,,946,340,ENSG00000147168,ENST00000482750,,IL2RG,1,,,,,2.73289,15.1,P31785_X66R,X,R,66,XR,X66R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,0.00245678,0,0.0837811,0.952641
9038,P31785,I,N,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0,,,,,,,,,130,106,ENSG00000147168,ENST00000464642,,IL2RG,0.5,possibly_damaging,0.902,tolerated,0.13,3.00577,16.03,P31785_I109N,I,N,109,IN,I109N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,,,,,,,,,,,,0.00407946,0,0.139118,0.951534
9095,Q04656,G,D,941,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0,,,,,,,,,118687,21007,ENSG00000165240,ENST00000343533,,ATP7A,0.66,probably_damaging,0.999,deleterious,0,5.04929,29.9,Q04656_G941D,G,D,941,GD,G941D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,,,,0.948182
9101,P00558,R,P,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,11784,4758,ENSG00000102144,ENST00000537456,,PGK1,0.46,benign,0.181,deleterious,0.01,1.51621,11.02,P00558_R178P,R,P,178,RP,R178P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00105768,0,0.036069,0.894476
9108,P00558,T,P,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,400,757,ENSG00000102144,ENST00000537456,,PGK1,0.9,possibly_damaging,0.66,deleterious,0.04,3.76491,19.12,P00558_T350P,T,P,350,TP,T350P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.00405072,0,0.138138,0.968141
9157,Q06187,Y,S,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,50,1900,ENSG00000010671,ENST00000372880,,BTK,0.69,probably_damaging,0.997,deleterious,0,4.47469,23.9,Q06187_Y334S,Y,S,334,YS,Y334S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,-1.282,-3.346,2.064,,,,,,,,,0.000199408,0,0.00680021,0.818091
9173,P06280,R,Q,342,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,621,267,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.8,probably_damaging,0.98,deleterious,0,5.22578,33,P06280_R342Q,R,Q,342,RQ,R342Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.101,-3.305,2.204,,E,B,0.56,-0.84,,,,0.00427424,0,0.14576,0.580211
9174,P06280,R,X,342,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.04,,,,,,,,,620,268,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.8,,,,,5.55274,35,P06280_R342X,R,X,342,RX,R342X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00427424,0,0.14576,0.94011
9179,P06280,S,F,297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,216,38,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.69,probably_damaging,0.999,deleterious,0,5.10035,31,P06280_S297F,S,F,297,SF,S297F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.068,-3.923,2.855,,.,b,0.85,-1.12,,,,0.00133258,0,0.0454437,0.522406
9180,P06280,M,I,296,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.03,,,,,,,,,214,36,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.69,benign,0.092,tolerated,0.06,4.07809,21,P06280_M296I,M,I,296,MI,M296I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.503,-3.014,1.511,,E,B,0.07,-0.86,9.683,,63.87,0.00306264,0,0.104442,0.815703
9240,P60891,A,V,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.05,,,,,,,,,5857,5036,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.6,probably_damaging,0.952,deleterious,0,5.0723,31,P60891_A190V,A,V,190,AV,A190V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.556,-2.682,1.126,,E,B,0.44,-0.21,,,,0.0021336,0,0.0727601,0.786551
9295,P29400,R,X,373,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.01,,,,,,,,,4207,40571,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.22,,,,,8.12419,40,P29400_R373X,R,X,373,RX,R373X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,2.82e-05,0,0.00096107,0.984992
9350,P29400,G,E,722,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,20490,24288,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.43,,,deleterious,0.02,3.77492,19.17,P29400_G722E,G,E,722,GE,G722E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,2.73e-05,0,0.000931541,0.811426
9363,P29400,G,R,852,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.01,,,,,,,,,37811,6967,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.5,,,deleterious,0,4.23447,22,P29400_G852R,G,R,852,GR,G852R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.074,-3.773,2.699,,,,,,1.622,,54.84,2.51e-05,0,0.000854354,0.832693
9425,P29400,G,R,1448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,5631,8,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.86,probably_damaging,1,deleterious,0,3.95951,20.3,P29400_G1448R,G,R,1448,GR,G1448R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.359,-2.859,1.5,,,,,,3.226,3.226,12.76,0.00151154,0,0.0515465,0.786479
9483,P42263,G,R,833,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.07,,,,,,,,,133,191,ENSG00000125675,ENST00000371256,CCDS14605.1,GRIA3,0.93,probably_damaging,0.999,deleterious,0,4.51434,24.3,P42263_G833R,G,R,833,GR,G833R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.008,-3.615,2.607,,,,,,,,,0.00420183,0,0.143291,0.765128
9506,P51654,R,X,199,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.03,,,,,,,,,217,157552,ENSG00000147257,ENST00000394299,CCDS55496.1,GPC3,0.33,,,,,7.74613,39,P51654_R199X,R,X,199,RX,R199X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9560,P29965,G,V,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.04,,,,,,,,,11082,1082,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.87,probably_damaging,0.999,deleterious,0,3.56828,18.19,P29965_G227V,G,V,227,GV,G227V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.88,-3.694,2.814,0.149,E,B,0.73,-0.76,2.642,,37.16,0.00820344,0,0.279754,0.531265
9823,Q05066,K,X,92,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.49,0.08,,,,,,,,,274,226,ENSG00000184895,ENST00000534739,,SRY,0.56,,,,,1.83654,12.1,Q05066_K92X,K,X,92,KX,K92X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00119529,0,0.0407619,0.905782
9827,Q05066,M,I,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.49,0.12,,,,,,,,,192,308,ENSG00000184895,ENST00000534739,,SRY,0.39,probably_damaging,0.952,deleterious,0,2.66993,14.89,Q05066_M64I,M,I,64,MI,M64I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.541,-2.887,1.346,0.452,.,B,0.07,0,,,,0.00266671,0,0.0909401,0.88874
59,Q96SN8,A,S,137,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.5,0.03,,,,,,,,,19,11233,ENSG00000136861,ENST00000349780,CCDS6823.1,CDK5RAP2,0.07,possibly_damaging,0.51,tolerated,0.24,1.77581,11.9,Q96SN8_A137S,A,S,137,AS,A137S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-2.66,-2.952,0.292,,,,,,4.207,2.44,13.58,,,,0.910739
89,Q92539,A,S,331,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.5,0.03,0.001,0.001,0.001,0.002,,0.01,,0.001,74079,20875,ENSG00000101577,ENST00000261596,CCDS11829.1,LPIN2,0.37,benign,0.093,tolerated,0.34,1.04158,9.254,Q92539_A331S,A,S,331,AS,A331S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-2.046,-2.57,0.524,,,,,,20.053,20.053,91.18,0.00150341,0,0.0594567,1.00718
207,P35499,T,M,323,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.5,0.09,0.007,0,0.01,0.002,,,,0.01,4828,29537,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.18,probably_damaging,0.972,tolerated,0.05,3.41456,17.54,P35499_T323M,T,M,323,TM,T323M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.714,-3.079,1.365,,,,,,14.927,14.927,92.16,0.000535702,0.00132188,0.0211858,0.973376
209,P32238,G,R,21,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.5,0.07,0.001,0.003,0,0.001,,,0.002,,256,8807,ENSG00000163394,ENST00000295589,CCDS3438.1,CCKAR,0.05,possibly_damaging,0.706,tolerated,0.07,2.61086,14.69,P32238_G21R,G,R,21,GR,G21R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.839,-2.802,0.963,,,,,,31.108,31.108,78.97,0.000960695,0,0.0379934,0.96222
218,P29033,R,H,127,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.5,0.08,0.002,0.001,0.003,0.002,,,,0.01,579,1730,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.56,benign,0.001,tolerated,0.17,2.20248,13.32,P29033_R127H,R,H,127,RH,R127H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.083,-2.751,0.668,0.722,T,A,1.03,1.52,29.764,29.764,84.07,0.00596642,0,0.235959,0.974186
250,P21817,L,P,4563,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.5,0.04,,,,,,,,,136950,16915,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.91,,,,,2.51967,14.39,P21817_L4563P,L,P,4563,LP,L4563P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.269,-4.105,2.836,,,,,,0.138,,9.27,,,,0.759354
295,P10071,N,K,787,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.5,0.07,,,,,,,,,184789,3584,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.5,benign,0.072,tolerated,1,0.128682,4.692,P10071_N787K,N,K,787,NK,N787K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-2.015,-2.181,0.166,,,,,,12.328,12.328,28.67,0.000411221,0,0.0162629,0.988411
390,O60260,D,N,366,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.5,0.07,0.032,0.008,0.044,0.02,0.002,0.01,0.01,0.04,1367476,10094,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.84,benign,0.036,tolerated,0.08,1.03419,9.224,O60260_D366N,D,N,366,DN,D366N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00474921,0,0.187821,0.96706
393,O60260,V,L,352,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.5,0.05,0.176,0.185,0.171,0.14,0.08,0.15,0.21,0.15,1340846,36724,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.81,benign,0.001,tolerated,0.75,-0.342832,2.378,O60260_V352L,V,L,352,VL,V352L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,0.00332707,0,0.131579,0.969187
16,Q99497,D,A,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,0.001,0.002,0,0.002,,,0.01,,19579,123,ENSG00000116288,ENST00000377488,CCDS93.1,PARK7,0.79,possibly_damaging,0.894,deleterious,0,3.75927,19.09,Q99497_D149A,D,A,149,DA,D149A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-1.139,-3.038,1.899,0.421,E,b,0.75,0.43,,,,0.00707528,0,0.241282,0.836618
34,Q13148,S,P,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,420,315,ENSG00000120948,ENST00000439080,,TARDBP,0.88,benign,0.075,tolerated,0.1,1.16925,9.758,Q13148_S263P,S,P,263,SP,S263P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.000634307,0,0.0216312,0.992445
35,Q13148,S,C,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,421,314,ENSG00000120948,ENST00000439080,,TARDBP,0.88,benign,0.279,deleterious,0.04,2.19927,13.31,Q13148_S263C,S,C,263,SC,S263C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.000634307,0,0.0216312,0.989891
36,Q13148,A,T,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,429,306,ENSG00000120948,ENST00000439080,,TARDBP,0.89,benign,0.016,deleterious,0.02,1.5272,11.06,Q13148_A266T,A,T,266,AT,A266T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00248732,0.00675676,0.0848227,0.977688
37,Q13148,A,P,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,429,306,ENSG00000120948,ENST00000439080,,TARDBP,0.89,benign,0,tolerated,0.08,1.01744,9.156,Q13148_A266P,A,P,266,AP,A266P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00248732,0.00675676,0.0848227,0.986212
61,O95140,T,I,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,18475,14722,ENSG00000116688,ENST00000235329,CCDS30587.1,MFN2,0.27,possibly_damaging,0.795,deleterious,0,4.6898,25.9,O95140_T206I,T,I,206,TI,T206I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.391,-3.242,1.851,,,,,,,,,,,,0.851668
223,Q9NR50,H,Q,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,26,1121,ENSG00000070785,ENST00000360403,CCDS517.1,EIF2B3,0.75,probably_damaging,0.957,deleterious,0.02,2.47112,14.22,Q9NR50_H341Q,H,Q,341,HQ,H341Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.433,-3.41,1.977,,,,,,,,,0.002893,0,0.0986572,0.844302
259,Q15392,N,T,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,10554,13532,ENSG00000116133,ENST00000535035,,DHCR24,0.53,possibly_damaging,0.655,deleterious,0,4.5673,24.8,Q15392_N253T,N,T,253,NT,N253T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,,,,,,,,,,,,,,,0.952514
311,P78363,P,L,1380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.11,0,0,0,,,,,,90023,38273,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.61,possibly_damaging,0.828,deleterious,0.02,3.61023,18.37,P78363_P1380L,P,L,1380,PL,P1380L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,,,,0.769387
318,P78363,Y,D,340,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,40567,34922,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.15,possibly_damaging,0.813,deleterious,0.01,4.19854,21.8,P78363_Y340D,Y,D,340,YD,Y340D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.181,-3.696,2.515,,,,,,,,,,,,0.726924
336,P19087,Q,X,79,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,2950,6841,ENSG00000134183,ENST00000351050,CCDS803.1,GNAT2,0.22,,,,,6.68175,38,P19087_Q79X,Q,X,79,QX,Q79X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
368,P54868,F,L,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,416,8723,ENSG00000134240,ENST00000544913,CCDS53353.1,HMGCS2,0.37,benign,0.072,tolerated,0.09,3.5393,18.06,P54868_F174L,F,L,174,FL,F174L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.241,-2.685,1.444,0.006,H,A,0.03,-0.89,,,,0.00279543,0,0.0953299,0.796128
406,O00165,Q,X,194,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.01,,,,,,,,,1267,108,ENSG00000143575,ENST00000435087,,HAX1,0.76,,,,,3.58669,18.27,O00165_Q194X,Q,X,194,QX,Q194X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
461,P02549,G,V,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,1374,7508,ENSG00000163554,ENST00000368147,,SPTA1,0.02,probably_damaging,1,deleterious,0.03,4.19119,21.7,P02549_G46V,G,V,46,GV,G46V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.906,-3.789,1.883,0.552,.,b,0.73,0,3.036,,73.67,0.000187079,0,0.00637977,0.922068
462,P02549,R,L,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,1320,7562,ENSG00000163554,ENST00000368147,,SPTA1,0.01,probably_damaging,0.997,deleterious,0,5.15509,32,P02549_R28L,R,L,28,RL,R28L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.591,-1.763,0.172,0.671,H,A,1.75,0,4.859,4.859,17.07,0.00019771,0,0.00674233,0.934693
501,P25189,T,K,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,115,916,ENSG00000158887,ENST00000360451,,MPZ,0.52,possibly_damaging,0.808,deleterious,0,5.0292,29.7,P25189_T134K,T,K,134,TK,T134K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,,,,,,,,,,,,0.00127883,0,0.0436107,0.914214
530,O60779,R,X,162,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.03,,,,,,,,,8431,13569,ENSG00000117479,ENST00000367802,,SLC19A2,0.35,,,,,5.997,37,O60779_R162X,R,X,162,RX,R162X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00100097,0,0.0341352,0.908362
533,P12259,Y,C,1735,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,55784,16639,ENSG00000198734,ENST00000367796,,F5,0.78,probably_damaging,0.993,deleterious,0,4.09049,21.1,P12259_Y1735C,Y,C,1735,YC,Y1735C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.000269431,0,0.00918814,0.957538
542,P31513,E,K,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,1833,7662,ENSG00000007933,ENST00000392085,CCDS1292.1,FMO3,0.06,probably_damaging,1,deleterious,0,5.13936,32,P31513_E32K,E,K,32,EK,E32K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.005,-2.863,1.858,,,,,,,,,0.000557332,0,0.0190062,0.90344
555,Q99972,Y,H,437,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,16541,714,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.87,probably_damaging,1,deleterious,0,4.04319,20.8,Q99972_Y437H,Y,H,437,YH,Y437H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.023,-3.636,2.613,,,,,,,,,0.00117441,0,0.0400497,0.744537
557,Q99972,K,E,423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,16499,756,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.84,probably_damaging,0.999,deleterious,0,2.77207,15.23,Q99972_K423E,K,E,423,KE,K423E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.135,-2.071,0.936,,,,,,19.863,19.863,66.87,0.00128071,0,0.0436747,0.976339
569,P48023,A,E,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,6892,965,ENSG00000117560,ENST00000367721,CCDS1304.1,FASLG,0.88,probably_damaging,0.985,deleterious,0,3.83126,19.46,P48023_A247E,A,E,247,AE,A247E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.461,-3.359,1.898,,,,,,1.795,,68.68,0.009252,0,0.315512,0.862393
575,Q6PI48,L,V,626,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,16730,196,ENSG00000117593,ENST00000361951,CCDS1311.1,DARS2,0.97,benign,0.379,tolerated,0.07,2.62382,14.73,Q6PI48_L626V,L,V,626,LV,L626V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.223,-2.803,1.58,,,,,,13.638,10.686,77.36,0.00165724,0,0.0565153,0.964472
579,P01008,A,T,436,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,13401,169,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.94,probably_damaging,0.993,deleterious,0.01,5.58513,35,P01008_A436T,A,T,436,AT,A436T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.013,-3.014,2.001,,.,B,0.22,1.52,,,,0.00496405,0,0.169284,0.758717
580,P01008,S,L,426,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,13372,198,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.92,probably_damaging,0.994,deleterious,0.04,5.13069,32,P01008_S426L,S,L,426,SL,S426L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.146,-3.175,2.029,0.552,.,B,0.82,0.62,,,,0.00420625,0,0.143442,0.738522
586,P01008,A,P,416,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,13341,229,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.9,probably_damaging,0.999,deleterious,0,4.1417,21.4,P01008_A416P,A,P,416,AP,A416P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.013,-3.472,2.459,,E,B,0.52,-0.84,,,,0.00432614,0,0.14753,0.570201
589,P01008,S,P,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,3817,1119,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.48,possibly_damaging,0.872,tolerated,0.18,2.96909,15.9,P01008_S223P,S,P,223,SP,S223P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.524,-3.564,2.04,0.248,H,A,0.25,-0.29,2.599,,89.44,0.00304388,0,0.103802,0.802046
596,P01008,C,R,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,84,2602,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.27,probably_damaging,0.999,tolerated,0.85,2.08038,12.91,P01008_C127R,C,R,127,CR,C127R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,0.114,.,B,1.66,-0.41,,,,0.00333541,0,0.113744,0.516962
613,Q969G2,P,T,388,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,114,813,ENSG00000121454,ENST00000263726,CCDS1338.1,LHX4,0.99,benign,0.003,tolerated,0.15,2.12483,13.06,Q969G2_P388T,P,T,388,PT,P388T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.487,-2.993,1.506,,,,,,6.655,,81.03,0.109262,1,3.72606,0.926833
624,P19878,R,Q,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,3660,11325,ENSG00000116701,ENST00000367535,CCDS1356.1,NCF2,0.15,probably_damaging,0.998,deleterious,0,4.12937,21.3,P19878_R77Q,R,Q,77,RQ,R77Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,0.158,H,A,0.56,-0.76,,,,0.000540099,0,0.0184185,0.773192
787,Q92736,N,K,4088,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.16,,,,,,,,,96571,3977,ENSG00000198626,ENST00000542537,,RYR2,0.83,probably_damaging,0.999,deleterious,0,3.00775,16.03,Q92736_N4088K,N,K,4088,NK,N4088K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,,,,0.947543
853,Q03468,R,X,53,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.09,,,,,,,,,19314,560,ENSG00000225830,ENST00000542458,,ERCC6,0.06,,,,,6.77268,38,Q03468_R53X,R,X,53,RX,R53X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
859,P28329,I,T,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.11,,,,,,,,,13247,37424,ENSG00000070748,ENST00000351556,CCDS7233.1,CHAT,0.35,probably_damaging,0.997,deleterious,0,4.62268,25.3,P28329_I218T,I,T,218,IT,I218T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.00169443,0,0.0577837,0.927178
870,Q96QU1,G,D,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,483827,322783,ENSG00000150275,ENST00000437009,,PCDH15,0.14,probably_damaging,0.999,tolerated,0.5,3.48886,17.84,Q96QU1_G262D,G,D,262,GD,G262D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.663,-2.178,0.515,,,,,,8.604,8.604,9.31,,,,0.91112
902,P61457,T,I,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,1871,97,ENSG00000166228,ENST00000299299,CCDS31217.1,PCBD1,0.76,probably_damaging,1,deleterious,0,3.72405,18.91,P61457_T79I,T,I,79,TI,T79I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.245,-3.296,2.051,0.007,B,B,0.7,-0.58,,,,0.00970315,0,0.330897,0.607332
931,Q12791,D,G,434,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,19906,203167,ENSG00000156113,ENST00000404857,CCDS53545.1,KCNMA1,0.36,benign,0.07,tolerated,0.67,0.762696,8.035,Q12791_D434G,D,G,434,DG,D434G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.264,-2.815,1.551,0.677,.,b,0.46,1.79,,,,2.65e-05,0,0.000902892,0.924815
942,Q00266,A,D,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,3841,8997,ENSG00000151224,ENST00000455001,,MAT1A,0.23,probably_damaging,1,deleterious,0,5.11495,32,Q00266_A33D,A,D,33,AD,A33D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,,,,,,,,,,,,0.00421422,0,0.143714,0.951857
1023,Q5T4F4,G,V,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,0.03,0.073,0.008,0.02,0.01,0.003,0.08,0.01,540,1928,ENSG00000155256,ENST00000370613,CCDS53564.1,ZFYVE27,0.26,benign,0.259,deleterious,0.04,2.61608,14.71,Q5T4F4_G73V,G,V,73,GV,G73V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,,,,0.944066
1105,P04181,V,M,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,1591,15,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.64,possibly_damaging,0.873,deleterious,0,3.54331,18.08,P04181_V194M,V,M,194,VM,V194M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00496074,0,0.169172,0.967805
1208,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.5,0,0,0,0,,,,,,4,200,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,0.327489,5.776,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1242,P17405,M,I,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,18,853,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.61,probably_damaging,0.923,deleterious,0.01,4.98411,29.2,P17405_M383I,M,I,383,MI,M383I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,,,,,,,,,,,,0.00247789,0,0.0845011,0.984799
1312,Q9Y345,N,S,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,1533,24174,ENSG00000165970,ENST00000525748,CCDS7854.1,SLC6A5,0.64,probably_damaging,0.988,deleterious,0,4.87211,27.9,Q9Y345_N509S,N,S,509,NS,N509S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.162,-2.713,1.551,,,,,,,,,0.00055867,0,0.0190518,0.919196
1333,P26367,Q,X,136,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.09,,,,,,,,,162,45,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.32,,,,,7.181,38,P26367_Q136X,Q,X,136,QX,Q136X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0031343,0,0.106886,0.955443
1338,P26367,P,S,68,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,381,13,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.16,probably_damaging,1,deleterious,0,4.7157,26.2,P26367_P68S,P,S,68,PS,P68S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.236,-3.067,1.831,0.241,.,B,0.25,-0.79,,,,0.000729481,0,0.0248768,0.812316
1339,P26367,G,V,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,392,2,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.15,probably_damaging,1,deleterious,0,4.57287,24.8,P26367_G64V,G,V,64,GV,G64V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.008,-3.435,2.427,0.609,S,l,0.73,0.02,,,,0.000936514,0,0.0319371,0.777646
1353,P15918,R,W,314,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,6219,5513,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.3,probably_damaging,0.962,deleterious,0,3.24225,16.87,P15918_R314W,R,W,314,RW,R314W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.169,-5.239,4.07,0.406,H,A,1.67,0.2,0.336,,71.91,0.000170946,0,0.00582959,0.760014
1354,P15918,C,Y,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,6262,5470,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.31,probably_damaging,0.992,deleterious,0,4.07134,20.9,P15918_C328Y,C,Y,328,CY,C328Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.204,-4.079,2.875,0.01,.,B,0.25,-0.56,1.289,,71.62,0.000103108,0,0.00351619,0.632457
1358,P15918,R,W,507,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,6798,752,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.49,probably_damaging,0.909,deleterious,0,3.1913,16.68,P15918_R507W,R,W,507,RW,R507W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.064,-5.197,4.133,,,,,,,,,4.49e-05,0,0.00153041,0.792566
1361,P15918,E,K,722,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,7443,107,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.69,possibly_damaging,0.876,deleterious,0,4.88273,28,P15918_E722K,E,K,722,EK,E722K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.972,-2.882,1.91,,,,,,,,,4.26e-05,0,0.00145408,0.908157
1362,P15918,E,X,774,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,7599,50,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.74,,,,,6.3534,37,P15918_E774X,E,X,774,EX,E774X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000235499,0,0.008031,0.980139
1364,P15918,R,Q,778,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,7612,63,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.75,possibly_damaging,0.877,deleterious,0,5.10223,31,P15918_R778Q,R,Q,778,RQ,R778Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.064,-3.324,2.26,,,,,,,,,4.06e-05,0,0.00138437,0.833228
1371,P55895,G,A,451,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,0,0,0,,,,,,1939,340,ENSG00000175097,ENST00000311485,CCDS7903.1,RAG2,0.86,probably_damaging,0.999,deleterious,0,4.00457,20.5,P55895_G451A,G,A,451,GA,G451A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.809,-2.67,1.861,,,,,,,,,0.00323703,0,0.11039,0.879602
1380,Q93063,D,N,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,6222,2603,ENSG00000151348,ENST00000358681,CCDS53619.1,EXT2,0.31,probably_damaging,1,deleterious,0,5.78314,36,Q93063_D227N,D,N,227,DN,D227N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.139,-2.958,1.819,,,,,,,,,0.000271807,0,0.00926917,0.918825
1398,P00734,R,W,461,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,9515,10755,ENSG00000180210,ENST00000311907,CCDS31476.1,F2,0.74,probably_damaging,1,deleterious,0,4.06802,20.9,P00734_R461W,R,W,461,RW,R461W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.064,-5.197,4.133,0.222,S,l,1.67,-0.27,,,,0.00131466,0,0.0448326,0.595578
1422,O75489,R,W,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,194,36,ENSG00000213619,ENST00000263774,CCDS7941.1,NDUFS3,0.75,probably_damaging,1,deleterious,0,4.20323,21.8,O75489_R199W,R,W,199,RW,R199W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.447,-2.278,0.831,,,,,,37.429,37.429,75.38,,,,0.943258
1445,Q96G97,R,X,275,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,47,162,ENSG00000168000,ENST00000421906,CCDS8031.1,BSCL2,0.69,,,,,6.7547,38,Q96G97_R275X,R,X,275,RX,R275X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00571466,0,0.194882,0.922719
1449,Q96G97,S,L,154,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,3726,7785,ENSG00000168000,ENST00000524862,,BSCL2,0.68,probably_damaging,0.929,deleterious,0.02,5.00365,29.4,Q96G97_S154L,S,L,154,SL,S154L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00379966,0,0.129576,0.949277
1450,Q96G97,N,S,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,3720,7791,ENSG00000168000,ENST00000524862,,BSCL2,0.67,probably_damaging,0.994,tolerated,0.07,4.39592,23.3,Q96G97_N152S,N,S,152,NS,N152S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00335066,0,0.114264,0.967056
1559,P50416,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.5,0.08,,,,,,,,,12200,940,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,,,,,,1.55051,11.14,P50416_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1561,P50416,Y,X,498,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.08,,,,,,,,,40107,17784,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.64,,,,,3.77775,19.18,P50416_Y498X,Y,X,498,YX,Y498X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00124779,0,0.0425522,0.8948
1566,P50416,G,W,465,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.11,,,,,,,,,34799,23092,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.6,probably_damaging,0.999,deleterious,0,3.34225,17.25,P50416_G465W,G,W,465,GW,G465W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-1.063,-4.997,3.934,,,,,,0.435,,86.55,0.00101608,0,0.0346505,0.838574
1675,P14679,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.5,0.01,0,0,0,,,,,,61,22658,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0,possibly_damaging,0.878,tolerated,0.06,2.5178,14.38,P14679_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.728,-2.066,0.338,,,,,,15.828,15.828,66.54,0.00225955,0.00189394,0.0770554,1.01635
1703,Q13614,Q,X,354,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,68015,9727,ENSG00000087053,ENST00000444541,,MTMR2,0.64,,,,,5.9575,36,Q13614_Q354X,Q,X,354,QX,Q354X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1805,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.5,0.03,,,,,,,,,83,1046,,ENSR00000186853,,,,,,,,2.81684,15.38,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1814,P08397,R,X,132,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,1580,166,ENSG00000256269,ENST00000539986,,HMBS,0.71,,,,,8.38678,40,P08397_R132X,R,X,132,RX,R132X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00525246,0,0.17912,0.933136
1815,P08397,R,Q,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,1581,167,ENSG00000256269,ENST00000539986,,HMBS,0.71,probably_damaging,0.999,deleterious,0,6.00333,37,P08397_R132Q,R,Q,132,RQ,R132Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00525246,0,0.17912,0.954513
1858,Q96M11,D,G,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,0,0,0,0.001,,,,0.004,3222,618,ENSG00000198331,ENST00000356438,CCDS8467.1,HYLS1,0.71,probably_damaging,0.997,deleterious,0,4.03008,20.7,Q96M11_D211G,D,G,211,DG,D211G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.924,-2.989,2.065,,,,,,,,,0.00329032,0,0.112207,0.811949
1864,P48048,A,T,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,2826,118,ENSG00000151704,ENST00000324036,CCDS8477.1,KCNJ1,0.48,probably_damaging,1,deleterious,0,4.50272,24.2,P48048_A179T,A,T,179,AT,A179T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00188898,0,0.0644181,0.975991
1895,Q09470,F,I,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.09,,,,,,,,,1746,6125,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.5,probably_damaging,0.959,deleterious,0,4.15382,21.5,Q09470_F249I,F,I,249,FI,F249I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,-1.351,-3.071,1.72,1.03,S,a,0.1,0.83,,,,0.000373891,0,0.0127505,0.92327
1896,Q09470,N,D,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,1764,6107,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.52,probably_damaging,0.997,deleterious,0,3.92727,19.98,Q09470_N255D,N,D,255,ND,N255D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.26,-2.754,1.494,0.256,H,A,0.14,0.04,,,,0.000278941,0,0.00951246,0.90288
1959,Q9GZX7,R,W,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,66,2666,ENSG00000111732,ENST00000537228,,AICDA,0.13,probably_damaging,0.999,deleterious,0,3.84272,19.52,Q9GZX7_R24W,R,W,24,RW,R24W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.00473377,0.00574713,0.161431,0.759581
2052,P08237,D,A,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,68,338,ENSG00000152556,ENST00000546465,,PFKM,0.89,probably_damaging,0.999,deleterious,0,4.45267,23.7,P08237_D158A,D,A,158,DA,D158A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,,,,,,,,,,,,,,,0.939056
2112,P13647,L,F,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,157,23,ENSG00000186081,ENST00000551275,,KRT5,0.95,probably_damaging,0.995,deleterious,0,3.85525,19.59,P13647_L140F,L,F,140,LF,L140F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,0.00151792,0,0.0517643,0.928464
2121,P35908,N,K,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,580,3377,ENSG00000172867,ENST00000309680,CCDS8835.1,KRT2,0.29,probably_damaging,1,deleterious,0,4.20179,21.8,P35908_N186K,N,K,186,NK,N186K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-0.975,-3.107,2.132,,,,,,,,,,,,0.803445
2127,P04264,N,K,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,623,5049,ENSG00000167768,ENST00000252244,CCDS8836.1,KRT1,0.29,probably_damaging,1,deleterious,0,3.61696,18.41,P04264_N188K,N,K,188,NK,N188K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-0.975,-3.107,2.132,,,,,,,,,,,,0.803445
2229,P00439,R,L,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,0,0,0,,,,,,61905,36,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.39,benign,0.058,deleterious,0.03,2.46349,14.2,P00439_R176L,R,L,176,RL,R176L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.844,-3.324,1.48,0.59,.,B,1.75,-0.01,4.272,,90.49,0.00292531,0,0.099759,0.902858
2266,P10916,F,L,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,81,316,ENSG00000111245,ENST00000548438,,MYL2,0.12,benign,0.177,deleterious,0.01,4.30805,22.6,P10916_F18L,F,L,18,FL,F18L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.611,-2.769,1.158,0.917,T,A,0.03,0,5.237,,76.51,0.00156082,0.00675676,0.0532272,0.923626
2267,P10916,A,T,13,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,0,0,0.001,0,,,,,66,331,ENSG00000111245,ENST00000548438,,MYL2,0.09,,,deleterious,0,3.02992,16.11,P10916_A13T,A,T,13,AT,A13T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.627,-3.212,1.585,,,,,,2.682,,76.51,0.000644497,0,0.0219787,0.968054
2296,Q9UJY1,K,E,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,278,6751,ENSG00000152137,ENST00000281938,CCDS9189.1,HSPB8,0.72,probably_damaging,0.992,deleterious,0,4.70343,26.1,Q9UJY1_K141E,K,E,141,KE,K141E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.166,-2.767,1.601,,,,,,,,,0.00298048,0,0.101641,0.891874
2326,Q9Y487,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.5,0.03,,,,,,,,,762,1203,ENSG00000185344,ENST00000330342,CCDS9254.1,ATP6V0A2,,,,,,4.79923,27.1,Q9Y487_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
2381,Q5SZK8,E,K,1972,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,97574,101235,ENSG00000150893,ENST00000280481,CCDS31960.1,FREM2,0.62,probably_damaging,1,deleterious,0,4.37305,23.1,Q5SZK8_E1972K,E,K,1972,EK,E1972K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,,,,0.855075
2497,P03950,C,W,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,4971,273,ENSG00000214274,ENST00000336811,CCDS9554.1,ANG,0.43,probably_damaging,1,deleterious,0,1.87365,12.22,P03950_C63W,C,W,63,CW,C63W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.253,-5.041,3.788,0.105,T,B,0.01,0.04,0.245,,47.62,0.00520238,0,0.177412,0.594006
2498,P03950,K,I,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,4973,275,ENSG00000214274,ENST00000336811,CCDS9554.1,ANG,0.44,probably_damaging,1,deleterious,0,3.03952,16.14,P03950_K64I,K,I,64,KI,K64I,PositiveCharge,Hydrophobic,9.74,6.02,-3.72,146,131,-15,168.6,166.7,-1.9,102,-0.979,-3.885,2.906,0.259,.,B,2.82,0.01,,,,0.00662068,0,0.225779,0.663441
2508,Q9UM01,W,X,242,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0,,,,,,,,,1639,5264,ENSG00000155465,ENST00000397528,CCDS9574.1,SLC7A7,0.47,,,,,8.15176,40,Q9UM01_W242X,W,X,242,WX,W242X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000416543,0,0.014205,0.956807
2539,P12883,G,E,256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,4272,18709,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.13,probably_damaging,0.998,deleterious,0,2.91947,15.73,P12883_G256E,G,E,256,GE,G256E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.008,-3.347,2.339,0.011,S,g,0.75,0,,,,9.92e-05,0,0.00338164,0.666423
2611,P06737,S,L,675,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,1933,1906,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.8,probably_damaging,0.998,deleterious,0,5.38663,34,P06737_S675L,S,L,675,SL,S675L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.348,-3.094,1.746,0.136,.,b,0.82,-0.11,,,,0.00035034,0,0.0119473,0.705204
2612,P06737,S,T,675,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,1932,1907,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.8,probably_damaging,0.975,deleterious,0,4.95026,28.8,P06737_S675T,S,T,675,ST,S675T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.348,-2.707,1.359,0.136,.,b,0.05,-0.11,,,,0.00035034,0,0.0119473,0.805775
2631,P30793,P,A,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,56648,2803,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.93,probably_damaging,0.998,tolerated,0.13,3.59529,18.31,P30793_P199A,P,A,199,PA,P199A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-0.966,-2.895,1.929,0.15,.,B,0.52,0.35,,,,0.00309562,0,0.105567,0.833541
2633,P30793,R,H,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,56604,2847,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.86,probably_damaging,1,deleterious,0,3.49898,17.89,P30793_R184H,R,H,184,RH,R184H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.491,-2.005,0.514,0.278,H,A,1.03,-0.56,26.057,26.057,73.6,0.00451778,0,0.154066,0.940425
2641,P32243,Y,X,187,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0,,,,,,,,,3581,43,ENSG00000165588,ENST00000554845,,OTX2,0.78,,,,,3.91562,19.92,P32243_Y187X,Y,X,187,YX,Y187X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
2652,P11277,W,R,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,21298,35097,ENSG00000070182,ENST00000389721,CCDS32100.1,SPTB,0.09,probably_damaging,1,deleterious,0,4.05056,20.8,P11277_W202R,W,R,202,WR,W202R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.394,-3.649,2.255,,G,A,1.67,-0.33,4.679,,64.48,0.000131216,0,0.00447475,0.516468
2667,Q68DK2,Q,X,493,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0,,,,,,,,,14340,4921,ENSG00000072121,ENST00000555452,,ZFYVE26,0.22,,,,,6.84024,38,Q68DK2_Q493X,Q,X,493,QX,Q493X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
2668,P49768,L,P,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,3134,32,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.17,probably_damaging,1,deleterious,0,4.73977,26.5,P49768_L81P,L,P,81,LP,L81P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00250662,0,0.0854809,0.964854
2669,P49768,V,L,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,3145,21,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.18,probably_damaging,0.946,deleterious,0,5.47229,35,P49768_V85L,V,L,85,VL,V85L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,0.00244221,0,0.0832843,0.978474
2681,P49768,D,G,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,0,0,0,,,,,,5658,43,ENSG00000080815,ENST00000394164,CCDS9813.1,PSEN1,0.71,benign,0.192,tolerated,0.05,3.00191,16.01,P49768_D329G,D,G,329,DG,D329G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00476513,0,0.162501,0.946662
2704,P49770,K,R,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,397,716,ENSG00000119718,ENST00000554748,,EIF2B2,0.71,probably_damaging,0.988,deleterious,0,4.87715,27.9,P49770_K61R,K,R,61,KR,K61R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,,,,,,,,,,,,0.00341007,0,0.11629,0.979548
2723,P16473,G,S,431,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,27066,2954,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.56,probably_damaging,1,deleterious,0,4.83019,27.4,P16473_G431S,G,S,431,GS,G431S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.727,-3.303,2.576,,,,,,3.926,,27.75,0.00054798,0,0.0186872,0.855504
2791,Q7Z699,V,D,23,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,46290,26893,ENSG00000166068,ENST00000561317,,SPRED1,0.17,probably_damaging,0.999,deleterious,0,4.88906,28.1,Q7Z699_V23D,V,D,23,VD,V23D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,,,,,,,,,,,,,,,0.936855
2799,P26440,G,V,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,9,91,ENSG00000128928,ENST00000473112,,IVD,0.39,probably_damaging,1,deleterious,0,4.89309,28.1,P26440_G119V,G,V,119,GV,G119V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00220787,0.00657895,0.0752929,0.954513
2810,P20807,R,Q,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,0,0,0,,,,,,42,15,ENSG00000092529,ENST00000397204,CCDS10086.1,CAPN3,0.67,probably_damaging,0.999,deleterious,0,5.98613,37,P20807_R104Q,R,Q,104,RQ,R104Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000695069,0,0.0237033,0.995654
2846,P35555,R,H,1170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,0.002,0,0.003,0.001,,0.003,,,158555,56391,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.41,benign,0.014,tolerated,0.19,2.98376,15.95,P35555_R1170H,R,H,1170,RH,R1170H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.973,-2.426,0.453,,,,,,29.151,29.151,82.34,,,,0.988543
2848,P35555,C,Y,1129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,158321,56625,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.39,probably_damaging,0.999,deleterious,0,3.54273,18.07,P35555_C1129Y,C,Y,1129,CY,C1129Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,,,,0.755919
2852,P35555,C,R,1074,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,157480,57466,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.37,benign,0.11,deleterious,0,3.72181,18.9,P35555_C1074R,C,R,1074,CR,C1074R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,,,,0.754167
2873,P51159,W,G,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,18613,3,ENSG00000069974,ENST00000569493,CCDS10153.1,RAB27A,0.33,probably_damaging,0.998,deleterious,0,4.53527,24.5,P51159_W73G,W,G,73,WG,W73G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.301,-3.094,1.793,,E,B,0.76,-0.91,,,,0.00123466,0,0.0421046,0.627975
2901,P06865,R,X,404,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,791,445,ENSG00000213614,ENST00000566304,,HEXA,0.75,,,,,4.72048,26.3,P06865_R404X,R,X,404,RX,R404X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00462222,0,0.157627,0.934774
2914,P06865,Y,X,191,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,7356,1966,ENSG00000213614,ENST00000566304,,HEXA,0.35,,,,,4.68936,25.9,P06865_Y191X,Y,X,191,YX,Y191X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00279331,0,0.0952577,0.945391
2915,P06865,Y,H,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,7354,1968,ENSG00000213614,ENST00000566304,,HEXA,0.35,probably_damaging,0.994,deleterious,0,4.88266,28,P06865_Y191H,Y,H,191,YH,Y191H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.00279331,0,0.0952577,0.964412
2918,P06865,R,C,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,7348,1974,ENSG00000213614,ENST00000566304,,HEXA,0.35,probably_damaging,1,deleterious,0,4.48328,24,P06865_R189C,R,C,189,RC,R189C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00312777,0,0.106663,0.929023
2927,Q96RK4,A,E,364,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,351,48,ENSG00000140463,ENST00000268057,CCDS10246.1,BBS4,0.7,probably_damaging,0.998,deleterious,0,5.27613,33,Q96RK4_A364E,A,E,364,AE,A364E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.036,-2.959,1.923,,,,,,5.037,5.037,74.95,0.00155328,0,0.05297,0.938034
2951,P16930,A,D,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,2224,202,ENSG00000103876,ENST00000561421,CCDS10314.1,FAH,0.32,probably_damaging,1,deleterious,0,3.57646,18.22,P16930_A134D,A,D,134,AD,A134D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.175,-3.429,2.254,,H,A,0.75,-0.65,,,,0.000706111,0,0.0240799,0.599146
2959,P16930,E,X,357,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,3641,53,ENSG00000103876,ENST00000407106,CCDS10314.1,FAH,0.85,,,,,4.26285,22.2,P16930_E357X,E,X,357,EX,E357X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00498073,0,0.169853,0.938231
2960,P16930,E,X,364,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,0,0,0,,,,,,3662,32,ENSG00000103876,ENST00000407106,CCDS10314.1,FAH,0.87,,,,,5.95994,36,P16930_E364X,E,X,364,EX,E364X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00197431,0,0.0673279,0.96137
2997,P08069,R,Q,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,49,183740,ENSG00000140443,ENST00000558762,,IGF1R,0.1,probably_damaging,0.967,deleterious,0.02,4.7087,26.1,P08069_R138Q,R,Q,138,RQ,R138Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.442,-3.44,1.998,0.56,S,b,0.56,-1.12,1.292,,79.01,0.000358453,0,0.012224,0.673778
3001,Q02078,N,S,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,0.001,0,0.002,0.001,,,,0.003,124265,22973,ENSG00000068305,ENST00000449277,,MEF2A,0.45,benign,0.038,tolerated,0.11,2.99581,15.99,Q02078_N193S,N,S,193,NS,N193S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00119915,0,0.0408935,0.917626
3086,Q92889,R,W,799,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,0.001,0,0.001,,,,,,10227,14,ENSG00000175595,ENST00000311895,CCDS32390.1,ERCC4,0.87,possibly_damaging,0.896,deleterious,0,4.86194,27.8,Q92889_R799W,R,W,799,RW,R799W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.00176105,0,0.0600555,0.761288
3259,Q86YC2,Q,X,775,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.03,,,,,,,,,8105,5760,ENSG00000083093,ENST00000261584,CCDS32406.1,PALB2,0.65,,,,,6.50026,37,Q86YC2_Q775X,Q,X,775,QX,Q775X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000808739,0,0.0275797,0.98231
3344,Q9Y653,C,S,346,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,3013,4612,ENSG00000205336,ENST00000568909,CCDS32460.1,GPR56,0.5,probably_damaging,0.999,deleterious,0,3.72535,18.92,Q9Y653_C346S,C,S,346,CS,C346S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.194,-3.203,2.009,,,,,,,,,0.000497157,0,0.0169541,0.851213
3368,#N/A,Y,X,537,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.08,,,,,,,,,472,2423,ENSG00000213380,ENST00000306875,CCDS10876.1,COG8,0.88,,,,,4.01258,20.6,#N/A_Y537X,Y,X,537,YX,Y537X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
3390,#N/A,Q,X,483,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.08,0,0,0,,,,,,4,6602,ENSG00000127688,ENST00000248272,CCDS10935.1,GAN,0.81,,,,,8.52796,40,#N/A_Q483X,Q,X,483,QX,Q483X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3391,#N/A,E,K,486,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,13,6593,ENSG00000127688,ENST00000248272,CCDS10935.1,GAN,0.81,benign,0.031,tolerated,0.06,2.90212,15.67,#N/A_E486K,E,K,486,EK,E486K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
3446,P43034,R,X,105,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,540,7670,ENSG00000007168,ENST00000574468,,PAFAH1B1,0.5,,,,,5.95,36,P43034_R105X,R,X,105,RX,R105X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00355792,0,0.121332,0.951177
3447,P43034,H,P,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,553,7657,ENSG00000007168,ENST00000574468,,PAFAH1B1,0.52,possibly_damaging,0.558,deleterious,0,4.43395,23.6,P43034_H109P,H,P,109,HP,H109P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,,,,,,,,,,,,0.0036072,0.00332226,0.123013,0.96353
3462,O60931,G,X,95,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.03,,,,,,,,,3038,34,ENSG00000040531,ENST00000046640,CCDS11031.1,CTNS,0.26,,,,,8.77376,41,O60931_G95X,G,X,95,GX,G95X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.00181091,0,0.0617558,0.939165
3480,P07359,M,V,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,1070,1664,ENSG00000185245,ENST00000329125,CCDS54068.1,GP1BA,0.39,benign,0.004,deleterious,0.02,1.30745,10.28,P07359_M255V,M,V,255,MV,M255V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.546,-2.858,1.312,0.79,S,B,0.11,1.7,4.298,,60.09,0.00118709,0,0.0404821,0.910213
3499,P11230,L,M,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,8786,1361,ENSG00000170175,ENST00000570557,,CHRNB1,0.55,probably_damaging,0.965,deleterious,0.02,3.32118,17.17,P11230_L173M,L,M,173,LM,L173M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,,,,,,,,,,,,0.00221205,0,0.0754356,0.988471
3500,P11230,V,M,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,8798,1349,ENSG00000170175,ENST00000570557,,CHRNB1,0.56,probably_damaging,0.999,deleterious,0.01,3.95702,20.2,P11230_V177M,V,M,177,VM,V177M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00215381,0,0.0734494,0.987603
3556,Q01453,S,C,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,4843,213,ENSG00000109099,ENST00000426385,,PMP22,0.63,,,,,2.21956,13.38,Q01453_S79C,S,C,79,SC,S79C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.363,-4.408,3.045,,,,,,1.848,,86.25,0.00869433,0,0.296494,0.802234
3608,O00623,R,X,180,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.03,,,,,,,,,1376,2385,ENSG00000108733,ENST00000225873,CCDS11296.1,PEX12,0.5,,,,,8.04039,40,O00623_R180X,R,X,180,RX,R180X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00462703,0,0.157791,0.934774
3625,P13645,M,T,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,459,4020,ENSG00000186395,ENST00000269576,CCDS11377.1,KRT10,0.26,probably_damaging,0.939,deleterious,0,4.11687,21.2,P13645_M150T,M,T,150,MT,M150T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.296,-3.277,1.981,,,,,,,,,0.000413088,0,0.0140871,0.854955
3633,P35527,Q,P,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,581,5634,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.28,possibly_damaging,0.826,deleterious,0,2.91542,15.72,P35527_Q172P,Q,P,172,QP,Q172P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-2.194,-3.844,1.65,,,,,,1.114,,68.38,0.00122864,0,0.0418993,0.952491
3635,P35527,L,S,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,569,5646,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.27,probably_damaging,0.998,deleterious,0,3.07713,16.27,P35527_L168S,L,S,168,LS,L168S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.166,-3.524,2.358,,,,,,2.342,,68.38,0.000714673,0,0.0243718,0.836783
3691,P35575,D,V,38,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,191,12381,ENSG00000131482,ENST00000253801,CCDS11446.1,G6PC,0.11,probably_damaging,0.999,deleterious,0,4.1859,21.7,P35575_D38V,D,V,38,DV,D38V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-0.985,-3.571,2.586,,,,,,,,,,,,0.760521
3787,P05106,E,X,595,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.08,,,,,,,,,46591,11329,ENSG00000259207,ENST00000435993,,ITGB3,0.79,,,,,7.10462,38,P05106_E595X,E,X,595,EX,E595X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00248634,0,0.0847893,0.961863
3840,P02452,G,C,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,936,1247,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.15,,,deleterious,0,3.61676,18.4,P02452_G221C,G,C,221,GC,G221C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.921,-4.823,3.902,,,,,0,,,,2.44e-05,0,0.000832249,0.646273
3897,P35499,V,I,1293,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,28211,6154,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.7,probably_damaging,0.938,deleterious,0,4.70768,26.1,P35499_V1293I,V,I,1293,VI,V1293I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-0.992,-2.662,1.67,,,,,,10.273,,89.27,0.000104427,0,0.00356118,0.976387
3921,P63252,N,H,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,6150,639,ENSG00000123700,ENST00000535240,CCDS11688.1,KCNJ2,0.51,probably_damaging,1,deleterious,0,3.30773,17.12,P63252_N216H,N,H,216,NH,N216H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,-1.26,-3.741,2.481,0.056,E,B,0.44,-0.35,,,,0.00109586,0,0.0373712,0.599037
3999,Q15583,P,R,43,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,1111,589,ENSG00000177426,ENST00000345133,CCDS11835.1,TGIF1,0.17,probably_damaging,1,deleterious,0,3.38613,17.42,Q15583_P43R,P,R,43,PR,P43R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,0.000201622,0,0.00687573,0.975779
4023,O15118,N,S,1156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,24864,3533,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.9,probably_damaging,0.998,deleterious,0,4.78257,26.9,O15118_N1156S,N,S,1156,NS,N1156S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-0.686,-3.239,2.553,,,,,,1.685,,24.57,0.000504953,0,0.0172199,0.858969
4025,O15118,I,T,1061,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.09,0,0,0,,,,,,23607,4790,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.83,possibly_damaging,0.866,deleterious,0,4.27338,22.3,O15118_I1061T,I,T,1061,IT,I1061T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.437,-3.811,2.374,,,,,,4.523,,90.61,0.00104209,0,0.0355375,0.873494
4033,O15118,R,Q,958,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.11,0,0,0,,,,,,20950,338,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.75,probably_damaging,0.964,deleterious,0.01,4.02572,20.6,O15118_R958Q,R,Q,958,RQ,R958Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.623,-3.154,1.531,,,,,,8.018,8.018,18.31,0.000876336,0,0.0298849,0.932302
4055,P02766,L,P,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,1044,625,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.22,probably_damaging,1,deleterious,0,4.35989,23,P02766_L32P,L,P,32,LP,L32P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.125,-4.386,3.261,0.007,E,B,1.07,-0.42,1.011,,59.18,0.0103033,0.026087,0.351362,0.510608
4201,P06213,A,E,1162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.09,,,,,,,,,171343,10403,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.84,probably_damaging,0.998,deleterious,0,4.06308,20.9,P06213_A1162E,A,E,1162,AE,A1162E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.088,-3.217,2.129,,G,A,1.04,-1.52,,,,0.000721616,0,0.0246086,0.564898
4202,P06213,A,T,1161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.09,,,,,,,,,171339,10407,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.84,probably_damaging,0.998,deleterious,0,4.49323,24.1,P06213_A1161T,A,T,1161,AT,A1161T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,,S,b,0.22,-1.37,,,,0.000778261,0,0.0265403,0.715079
4211,P06213,N,D,458,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,123353,58393,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.33,probably_damaging,1,deleterious,0,4.69175,26,P06213_N458D,N,D,458,ND,N458D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.26,-2.754,1.494,,B,b,0.14,-0.82,,,,9.76e-05,0,0.00332988,0.805412
4289,O00555,R,Q,1345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,243436,55476,ENSG00000141837,ENST00000573710,,CACNA1A,0.54,probably_damaging,0.999,,,4.41848,23.5,O00555_R1345Q,R,Q,1345,RQ,R1345Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000135252,0,0.00461236,0.996616
4294,O00555,S,L,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,140777,158135,ENSG00000141837,ENST00000573710,,CACNA1A,0.09,benign,0.077,,,3.15721,16.56,O00555_S218L,S,L,218,SL,S218L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.495,-3.262,1.767,,,,,,2.921,,21.32,5.18e-05,0,0.0017655,0.914725
4519,Q9UQB9,C,Y,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,3925,563,ENSG00000105146,ENST00000448930,CCDS46206.1,AURKC,0.71,probably_damaging,0.995,deleterious,0,4.03692,20.7,Q9UQB9_C195Y,C,Y,195,CY,C195Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,,,,0.933113
4555,P40939,R,X,46,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,589,3246,ENSG00000084754,ENST00000492433,,HADHA,0.18,,,,,4.85361,27.7,P40939_R46X,R,X,46,RX,R46X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00131805,0.0013947,0.0449481,0.900587
4628,Q16678,N,Y,423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,390,90,ENSG00000138061,ENST00000407341,CCDS1793.1,CYP1B1,0.78,probably_damaging,1,deleterious,0,4.4385,23.6,Q16678_N423Y,N,Y,423,NY,N423Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-0.975,-4.037,3.062,,B,B,0.82,-0.94,,,,0.00105923,0,0.036122,0.518294
4649,Q9H221,L,R,596,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,38627,876,ENSG00000143921,ENST00000272286,CCDS1815.1,ABCG8,0.89,probably_damaging,0.983,deleterious,0,4.31395,22.6,Q9H221_L596R,L,R,596,LR,L596R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.346,-3.869,2.523,,,,,,2.168,,67.46,0.00180509,0,0.0615571,0.85098
4702,P23945,P,T,457,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,34048,535,ENSG00000170820,ENST00000346173,,FSHR,0.72,probably_damaging,0.999,deleterious,0,3.8529,19.57,P23945_P457T,P,T,457,PT,P457T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,0.00135855,0,0.0463293,0.919419
4727,P35270,K,X,251,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.03,,,,,,,,,4120,252,ENSG00000116096,ENST00000234454,CCDS1920.1,SPR,0.96,,,,,2.93058,15.77,P35270_K251X,K,X,251,KX,K251X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.0340362,0.1,1.16071,0.938547
4731,Q16854,R,X,105,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,19868,278,ENSG00000114956,ENST00000264093,CCDS1931.1,DGUOK,0.38,,,,,5.05065,30,Q16854_R105X,R,X,105,RX,R105X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00427569,0,0.14581,0.94011
4735,Q14203,T,P,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,2219,29,ENSG00000204843,ENST00000394003,CCDS54369.1,DCTN1,0.06,probably_damaging,0.998,deleterious,0.01,4.20607,21.8,Q14203_T72P,T,P,72,TP,T72P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.245,-3.39,2.145,0.374,E,B,0.3,0,,,,0.000130497,0,0.00445023,0.813466
4741,P38435,G,R,558,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,2977,932,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.74,probably_damaging,0.999,deleterious,0,4.60006,25.1,P38435_G558R,G,R,558,GR,G558R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.00155673,0,0.0530877,0.704606
4772,Q16281,R,C,281,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,0,0,0,,,,,,18711,1346,ENSG00000144191,ENST00000409937,,CNGA3,0.4,probably_damaging,1,deleterious,0,4.31764,22.6,Q16281_R281C,R,C,281,RC,R281C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00208321,0,0.0710416,0.937925
4773,Q16281,R,W,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,0,0,0,,,,,,18729,1328,ENSG00000144191,ENST00000409937,,CNGA3,0.41,probably_damaging,1,deleterious,0,2.89134,15.63,Q16281_R287W,R,W,287,RW,R287W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00112721,0,0.0384401,0.918174
4776,Q16281,R,W,414,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,19110,947,ENSG00000144191,ENST00000409937,,CNGA3,0.59,probably_damaging,0.959,deleterious,0,2.48489,14.27,Q16281_R414W,R,W,414,RW,R414W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000600758,0,0.0204871,0.987856
4832,Q15042,R,X,671,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,60802,13540,ENSG00000115839,ENST00000442034,CCDS54402.1,RAB3GAP1,0.68,,,,,6.7569,38,Q15042_R671X,R,X,671,RX,R671X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4897,P98164,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.5,0.04,,,,,,,,,71536,50249,ENSG00000081479,ENST00000263816,CCDS2232.1,LRP2,,,,,,2.83104,15.43,P98164_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4903,P02708,C,W,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.09,,,,,,,,,16229,374,ENSG00000138435,ENST00000409542,,CHRNA1,0.95,,,deleterious,0,1.80312,11.99,P02708_C356W,C,W,356,CW,C356W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,0.000392125,0,0.0133723,0.967687
4964,P42224,E,Q,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,22281,15665,ENSG00000115415,ENST00000392323,,STAT1,0.45,probably_damaging,0.967,deleterious,0,5.1297,32,P42224_E322Q,E,Q,322,EQ,E322Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,,,,,,,,,,,,0.000683271,0,0.023301,1.0027
4989,Q13873,R,X,873,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,178848,11470,ENSG00000204217,ENST00000374580,CCDS33361.1,BMPR2,0.84,,,,,10.5881,44,Q13873_R873X,R,X,873,RX,R873X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000136981,0,0.00467132,0.978539
5033,Q9Y276,P,L,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,219,66,ENSG00000074582,ENST00000423377,,BCS1L,0.9,probably_damaging,1,deleterious,0,4.95963,28.9,Q9Y276_P99L,P,L,99,PL,P99L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,,,,,,,,,0.00215717,0,0.0735639,0.801939
5095,P53420,G,S,1201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,131861,24928,ENSG00000081052,ENST00000329662,,COL4A4,0.71,,,deleterious,0.01,3.42035,17.56,P53420_G1201S,G,S,1201,GS,G1201S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,,,,0.814173
5267,Q9BZ23,R,W,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,604,2730,ENSG00000125779,ENST00000316562,CCDS13071.2,PANK2,0.46,probably_damaging,1,deleterious,0,3.93062,20,Q9BZ23_R264W,R,W,264,RW,R264W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,0.107,E,B,1.67,-0.49,,,,0.00213594,0,0.07284,0.534252
5328,P48637,R,C,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,14609,3293,ENSG00000100983,ENST00000216951,CCDS13245.1,GSS,0.6,probably_damaging,0.999,deleterious,0,4.5307,24.4,P48637_R283C,R,C,283,RC,R283C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.331,-4.958,3.627,,H,A,1.66,-0.58,0.516,,55.06,0.0017914,0,0.0610904,0.468187
5356,P00813,L,R,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,5410,1272,ENSG00000196839,ENST00000372874,CCDS13335.1,ADA,0.84,probably_damaging,0.989,deleterious,0,4.58959,25,P00813_L304R,L,R,304,LR,L304R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.393,-3.948,2.555,,H,A,1.75,-0.57,1.822,,84.02,0.00486753,0,0.165993,0.577072
5358,P00813,S,L,291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,5371,1311,ENSG00000196839,ENST00000372874,CCDS13335.1,ADA,0.8,probably_damaging,1,deleterious,0,5.40058,34,P00813_S291L,S,L,291,SL,S291L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.146,-3.175,2.029,,E,B,0.82,-0.94,,,,0.00337448,0,0.115077,0.566388
5378,P10619,L,P,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,14,328,ENSG00000064601,ENST00000372484,CCDS13385.2,CTSA,0.51,probably_damaging,0.994,deleterious,0,4.01196,20.6,P10619_L254P,L,P,254,LP,L254P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-2.075,-1.699,-0.376,1.015,H,A,1.07,0.9,45.301,45.301,91.57,0.00466155,0,0.158968,0.976203
5504,Q01196,A,P,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,6519,59,ENSG00000159216,ENST00000486278,,RUNX1,0.58,probably_damaging,0.999,deleterious,0,5.40656,34,Q01196_A110P,A,P,110,AP,A110P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00083049,0,0.0283214,1.00333
5603,P35240,L,P,506,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,77469,2448,ENSG00000186575,ENST00000403435,,NF2,0.9,probably_damaging,0.988,deleterious,0,4.65716,25.6,P35240_L506P,L,P,506,LP,L506P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00625681,0,0.21337,0.921578
5604,P35240,Q,P,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,77478,2439,ENSG00000186575,ENST00000403435,,NF2,0.91,probably_damaging,0.965,deleterious,0,4.36774,23,P35240_Q509P,Q,P,509,QP,Q509P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,,,,,,,,,,,,0.00450229,0,0.153538,0.953755
5656,P30566,S,P,452,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,40,1615,ENSG00000239900,ENST00000454266,,ADSL,0.91,benign,0.01,tolerated,0.12,2.23055,13.42,P30566_S452P,S,P,452,SP,S452P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.00274762,0,0.0936995,0.965347
5797,P40337,L,P,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,7265,335,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.71,probably_damaging,0.997,deleterious,0,4.24359,22.1,P40337_L122P,L,P,122,LP,L122P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00990739,0,0.337862,0.923717
5831,P10828,V,A,458,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,42699,59,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.99,possibly_damaging,0.602,deleterious,0,4.89137,28.1,P10828_V458A,V,A,458,VA,V458A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.304,-2.588,1.284,0.125,H,A,0.44,0.32,,,,0.0378908,0,1.29215,0.801591
5834,P10828,L,H,450,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,42675,83,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.98,probably_damaging,0.988,deleterious,0,4.76652,26.7,P10828_L450H,L,H,450,LH,L450H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.208,-4.641,3.433,0.321,G,A,0.72,0.98,,,,0.0191461,0,0.652923,0.732757
5835,P10828,C,R,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,42662,96,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.97,benign,0.28,deleterious,0.05,3.55685,18.14,P10828_C446R,C,R,446,CR,C446R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,0.086,S,B,1.66,0.93,,,,0.00539672,0,0.184039,0.620242
5849,P10828,M,T,310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,37882,4876,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.67,possibly_damaging,0.67,deleterious,0,4.35587,22.9,P10828_M310T,M,T,310,MT,M310T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.71,-3.157,1.447,0.096,H,A,0.77,-1,,,,0.00153903,0,0.0524842,0.673969
5859,P37173,S,F,449,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,67595,19939,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.79,probably_damaging,0.998,deleterious,0,5.28016,33,P37173_S449F,S,F,449,SF,S449F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.363,-3.907,2.544,,,,,,0.886,,40.21,,,,0.753936
5868,Q8N335,I,V,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,0.001,0,0.002,0.001,,,,0.004,33532,131,ENSG00000152642,ENST00000431009,,GPD1L,0.59,benign,0.002,tolerated,1,-0.518627,1.632,Q8N335_I85V,I,V,85,IV,I85V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.00519618,0,0.177201,0.962661
6116,P41180,E,A,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,2944,364,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.12,probably_damaging,0.986,deleterious,0.02,4.79617,27.1,P41180_E127A,E,A,127,EA,E127A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-2.256,-2.906,0.65,,,,,,10.291,10.291,61.13,0.00153988,0.00105152,0.0525132,0.976568
6117,P41180,F,L,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,2946,362,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.12,probably_damaging,0.965,tolerated,0.08,5.08743,31,P41180_F128L,F,L,128,FL,F128L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-2.527,-2.735,0.208,,,,,,13.133,13.133,48.14,0.00151092,0.00105263,0.0515254,0.996744
6118,P41180,C,W,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,2957,351,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.12,probably_damaging,0.997,deleterious,0,3.45302,17.69,P41180_C131W,C,W,131,CW,C131W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.908,-4.156,2.248,,,,,,16.398,16.398,37.11,0.00145603,0,0.0496536,0.806068
6122,P41180,F,C,180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,7412,23714,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.17,possibly_damaging,0.666,deleterious,0,2.93558,15.78,P41180_F180C,F,C,180,FC,F180C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.215,-5.162,3.947,,,,,,0.993,,92.67,0.00147025,0,0.0501385,0.829456
6128,P41180,G,R,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,21797,9329,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.47,probably_damaging,0.999,deleterious,0,5.15023,32,P41180_G509R,G,R,509,GR,G509R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.67,-4.015,3.345,,,,,,2.389,,34.69,0.000297031,0,0.0101294,0.811543
6182,P08100,M,R,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.11,,,,,,,,,3700,2830,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.59,probably_damaging,0.996,deleterious,0,4.273,22.3,P08100_M207R,M,R,207,MR,M207R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.71,-3.443,1.733,0.134,H,A,1.75,-0.22,,,,0.00154191,0,0.0525823,0.702273
6200,Q7Z494,R,Q,973,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,6014,7229,ENSG00000113971,ENST00000337331,CCDS3078.1,NPHP3,0.73,possibly_damaging,0.613,tolerated,0.08,5.31836,34,Q7Z494_R973Q,R,Q,973,RQ,R973Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.00076146,0,0.0259673,0.890849
6209,P02787,A,P,477,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,98,12407,ENSG00000091513,ENST00000402696,CCDS3080.1,TF,0.68,probably_damaging,1,deleterious,0,3.56169,18.16,P02787_A477P,A,P,477,AP,A477P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.066,-3.556,2.49,0.01,I,A,0.52,-0.53,1.548,,53.15,0.00109236,0,0.0372517,0.597207
6210,P02787,P,S,589,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,0.13,0.077,0.158,0.15,0.24,0.14,0.07,0.14,2758,3273,ENSG00000091513,ENST00000402696,CCDS3080.1,TF,0.84,benign,0.03,tolerated,0.13,1.13998,9.645,P02787_P589S,P,S,589,PS,P589S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.716,-2.256,0.54,0.444,B,B,0.25,1.19,20.102,20.102,91.4,0.00228414,0,0.0778938,0.976147
6216,P05166,Y,C,412,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,0,0,0,,,,,,67488,94,ENSG00000114054,ENST00000462637,,PCCB,0.8,probably_damaging,0.995,deleterious,0,4.05124,20.8,P05166_Y412C,Y,C,412,YC,Y412C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
6313,Q96RQ3,L,P,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.11,,,,,,,,,60151,18923,ENSG00000078070,ENST00000539926,,MCCC1,0.71,probably_damaging,0.999,deleterious,0,4.78224,26.9,Q96RQ3_L302P,L,P,302,LP,L302P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,,,,,,,,,0.0017658,0,0.0602173,0.755106
6364,Q92685,G,D,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,217,492,ENSG00000214160,ENST00000418734,,ALG3,0.16,probably_damaging,1,deleterious,0,4.78155,26.9,Q92685_G62D,G,D,62,GD,G62D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,,,,0.948182
6370,Q9H3D4,R,C,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,107223,158,ENSG00000073282,ENST00000440651,,TP63,0.14,benign,0.007,deleterious,0,3.06108,16.22,Q9H3D4_R97C,R,C,97,RC,R97C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.704,-4.864,3.16,,,,,,0.735,,83.82,0.000790394,0,0.0269541,0.835804
6379,Q9H3D4,R,Q,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,78814,4961,ENSG00000073282,ENST00000392461,,TP63,0.6,possibly_damaging,0.452,deleterious,0,5.21612,33,Q9H3D4_R249Q,R,Q,249,RQ,R249Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000709033,0,0.0241795,0.995654
6380,Q9H3D4,C,R,251,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,78819,4956,ENSG00000073282,ENST00000392461,,TP63,0.6,possibly_damaging,0.732,deleterious,0,4.26817,22.3,Q9H3D4_C251R,C,R,251,CR,C251R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.000685391,0,0.0233732,0.968092
6383,Q9H3D4,L,F,459,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,100994,3427,ENSG00000073282,ENST00000354600,CCDS46978.1,TP63,0.78,probably_damaging,1,deleterious,0,4.0483,20.8,Q9H3D4_L459F,L,F,459,LF,L459F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,0.00240934,0,0.0821635,0.989554
6504,P16234,D,Y,846,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,56840,9336,ENSG00000134853,ENST00000257290,CCDS3495.1,PDGFRA,0.78,probably_damaging,0.994,deleterious,0,4.28306,22.4,P16234_D846Y,D,Y,846,DY,D846Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.057,-4.164,3.107,0.683,.,b,0.96,1.75,,,,0.000338222,0,0.0115341,0.772442
6523,P30968,A,D,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,386,13470,ENSG00000109163,ENST00000420975,CCDS47064.1,GNRHR,0.52,probably_damaging,0.999,deleterious,0,4.45141,23.7,P30968_A129D,A,D,129,AD,A129D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.013,-3.511,2.498,,,,,,,,,0.0039977,0,0.13633,0.780553
6525,P30968,N,K,10,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,30,13826,ENSG00000109163,ENST00000420975,CCDS47064.1,GNRHR,0.04,benign,0.039,deleterious,0.03,0.573592,7.098,P30968_N10K,N,K,10,NK,N10K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.797,-3.317,1.52,,,,,,4.907,,90.55,0.00172733,0,0.0589054,0.957932
6613,P08235,L,P,807,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,322730,32788,ENSG00000151623,ENST00000512865,CCDS54811.1,NR3C2,0.93,probably_damaging,0.998,deleterious,0,4.5064,24.2,P08235_L807P,L,P,807,LP,L807P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00112564,0,0.0383867,0.913448
6615,P08235,Q,R,776,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,256,2172,ENSG00000151623,ENST00000358102,CCDS3772.1,NR3C2,0.79,probably_damaging,0.997,deleterious,0,5.03888,29.8,P08235_Q776R,Q,R,776,QR,Q776R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.25,-3.075,1.825,0.122,H,A,0.56,-0.84,,,,0.000344526,0,0.011749,0.738153
6630,Q16134,A,T,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,0,0,0,,,,,,327,156,ENSG00000171503,ENST00000307738,,ETFDH,0.06,probably_damaging,0.956,deleterious,0,5.88651,36,Q16134_A37T,A,T,37,AT,A37T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00174253,0.00172414,0.0594238,0.928695
6686,P03951,R,C,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,0,0,0,,,,,,4478,1737,ENSG00000088926,ENST00000452239,,F11,0.68,probably_damaging,0.982,deleterious,0.01,4.14794,21.4,P03951_R142C,R,C,142,RC,R142C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00102546,0,0.0349704,0.887012
6733,Q9UMX9,D,N,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,1909,18687,ENSG00000164175,ENST00000382102,CCDS43308.1,SLC45A2,0.34,probably_damaging,1,deleterious,0,5.44155,35,Q9UMX9_D157N,D,N,157,DN,D157N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.985,-3.04,2.055,,,,,,,,,0.000771844,0,0.0263215,0.870986
6734,Q9UHK6,L,P,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,2202,8583,ENSG00000242110,ENST00000441713,,AMACR,0.47,probably_damaging,0.994,deleterious,0,4.09604,21.1,Q9UHK6_L107P,L,P,107,LP,L107P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.972,-3.96,2.988,,,,,,,,,0.00452155,0,0.154194,0.752328
6767,P10643,C,X,486,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,48978,24710,ENSG00000112936,ENST00000313164,CCDS47201.1,C7,0.58,,,,,7.34072,39,P10643_C486X,C,X,486,CX,C486X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000178069,0,0.00607253,0.980504
6796,O15520,C,F,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,367,120,ENSG00000070193,ENST00000264664,CCDS3950.1,FGF10,0.51,possibly_damaging,0.557,deleterious,0.04,2.77414,15.24,O15520_C106F,C,F,106,CF,C106F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.686,-3.997,2.311,0.219,.,b,0.12,1.79,0.797,,56.25,0.00579736,0,0.197702,0.666529
6827,P15848,G,V,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,16691,153040,ENSG00000113273,ENST00000264914,CCDS4043.1,ARSB,0.26,probably_damaging,0.999,deleterious,0,5.18056,32,P15848_G137V,G,V,137,GV,G137V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.809,-3.571,2.762,0.494,T,l,0.73,-0.13,,,,0.00129088,0,0.0440218,0.729735
6838,Q8WXG9,Q,X,2301,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.07,0,0,0,,,,,,132191,473231,ENSG00000164199,ENST00000405460,CCDS47246.1,GPR98,0.36,,,,,14.9885,49,Q8WXG9_Q2301X,Q,X,2301,QX,Q2301X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6842,P29120,S,L,307,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,2037,18022,ENSG00000175426,ENST00000311106,CCDS4081.1,PCSK1,0.41,probably_damaging,0.999,deleterious,0,5.20679,33,P29120_S307L,S,L,307,SL,S307L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.239,-3.135,1.896,,.,A,0.82,-0.6,,,,0.000478647,0,0.0163228,0.679284
6926,Q9UBF9,S,I,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,3059,5260,ENSG00000120729,ENST00000239926,CCDS4194.1,MYOT,0.19,benign,0.003,deleterious,0.01,2.36907,13.88,Q9UBF9_S95I,S,I,95,SI,S95I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-1.886,-3.732,1.846,,,,,,2.803,,92.37,0.00107686,0,0.0367232,0.946437
6970,P23415,S,X,324,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,95828,6382,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.71,,,,,7.71358,39,P23415_S324X,S,X,324,SX,S324X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00279805,0,0.0954191,0.953542
6989,P18507,Q,X,295,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,85094,352,ENSG00000113327,ENST00000393933,,GABRG2,0.79,,,,,7.09166,38,P18507_Q295X,Q,X,295,QX,Q295X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7073,P15924,R,X,1267,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,38372,6584,ENSG00000096696,ENST00000379802,CCDS4501.1,DSP,0.44,,,,,10.9064,44,P15924_R1267X,R,X,1267,RX,R1267X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7095,Q6VVB1,I,N,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,607,1527,ENSG00000187566,ENST00000340650,CCDS4542.1,NHLRC1,0.5,benign,0.123,deleterious,0,3.03344,16.12,Q6VVB1_I198N,I,N,198,IN,I198N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.995,-4.109,2.114,,,,,,1.397,,87.34,0.0041443,0,0.141329,0.896173
7105,Q30201,I,T,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,3639,1905,ENSG00000010704,ENST00000470149,,HFE,0.3,probably_damaging,0.999,deleterious,0,3.65424,18.58,Q30201_I105T,I,T,105,IT,I105T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.863,-2.935,1.072,,H,A,0.7,-1.25,13.709,13.709,55.75,0.00279999,0,0.0954855,0.731796
7154,P23942,G,D,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,740,25233,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.48,probably_damaging,1,deleterious,0,5.10445,31,P23942_G167D,G,D,167,GD,G167D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,,,,,0.00120595,0,0.0411255,0.7279
7221,P21953,R,P,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,0,0,0,,,,,,62279,929,ENSG00000083123,ENST00000369760,,BCKDHB,0.84,probably_damaging,1,deleterious,0,4.59206,25,P21953_R183P,R,P,183,RP,R183P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-0.943,-4.075,3.132,0.004,E,B,0.68,-0.41,2.249,,82.91,0.000676324,0,0.023064,0.655045
7235,Q03692,W,X,651,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.03,,,,,,,,,995,1137,ENSG00000123500,ENST00000327673,CCDS5105.1,COL10A1,0.96,,,,,8.37652,40,Q03692_W651X,W,X,651,WX,W651X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0090732,0,0.309415,0.881516
7248,P17302,L,P,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,11187,2849,ENSG00000152661,ENST00000282561,CCDS5123.1,GJA1,0.03,probably_damaging,1,deleterious,0,4.57102,24.8,P17302_L11P,L,P,11,LP,L11P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.000623615,0,0.0212666,0.807506
7258,P24043,C,R,862,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,404696,228677,ENSG00000196569,ENST00000421865,CCDS5138.1,LAMA2,0.28,probably_damaging,1,deleterious,0,4.4231,23.5,P24043_C862R,C,R,862,CR,C862R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,,,,0.743173
7304,Q8NF91,R,H,2619,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,3409,79,ENSG00000131018,ENST00000356820,,SYNE1,0.79,probably_damaging,0.999,deleterious,0,5.47498,35,Q8NF91_R2619H,R,H,2619,RH,R2619H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
7311,P00747,K,E,38,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,0.004,0.001,0.006,0.003,,,0.002,0.01,94,1849,ENSG00000122194,ENST00000366924,CCDS55074.1,PLG,0.28,possibly_damaging,0.569,tolerated,0.12,2.68471,14.94,P00747_K38E,K,E,38,KE,K38E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.742,-3.08,1.338,,,,,,4.039,,78.02,0.000504576,0,0.0172071,0.97441
7314,P00747,E,X,479,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,489,3,ENSG00000122194,ENST00000308192,CCDS5279.1,PLG,0.59,,,,,2.00802,12.67,P00747_E479X,E,X,479,EX,E479X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00126951,0,0.0432929,0.902682
7403,P10071,E,X,543,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.03,,,,,,,,,697,6179,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.34,,,,,9.12195,41,P10071_E543X,E,X,543,EX,E543X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000119465,0,0.00407399,0.98778
7450,P08236,R,W,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,32,2,ENSG00000169919,ENST00000345660,,GUSB,0.36,probably_damaging,0.958,deleterious,0,4.28935,22.4,P08236_R216W,R,W,216,RW,R216W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,0.03,S,g,1.67,1.27,,,,0.000403453,0,0.0137586,0.657251
7509,P08123,G,S,859,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,357,1443,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.63,,,deleterious,0.02,4.26809,22.3,P08123_G859S,G,S,859,GS,G859S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,0,,,,1.29e-05,0,0.000439451,0.72721
7527,Q9UJS0,R,X,184,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.07,,,,,,,,,128910,47,ENSG00000004864,ENST00000265631,CCDS5645.1,SLC25A13,0.27,,,,,4.20444,21.8,Q9UJS0_R184X,R,X,184,RX,R184X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00108361,0,0.0369533,0.908362
7553,O43511,T,M,410,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,0,0,0,,,,,,29568,27607,ENSG00000091137,ENST00000265715,CCDS5746.1,SLC26A4,0.53,probably_damaging,1,deleterious,0,4.43557,23.6,O43511_T410M,T,M,410,TM,T410M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.372,-4.707,3.335,,,,,,1.167,,45.13,0.00129797,0,0.0442634,0.821533
7564,P40879,G,X,187,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.07,,,,,,,,,12149,794,ENSG00000091138,ENST00000340010,CCDS5748.1,SLC26A3,0.24,,,,,4.84519,27.6,P40879_G187X,G,X,187,GX,G187X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,,,,0.933822
7657,P13569,G,D,1319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,184675,2302,ENSG00000001626,ENST00000426809,,CFTR,0.92,probably_damaging,1,deleterious,0,5.05337,30,P13569_G1319D,G,D,1319,GD,G1319D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.000887426,0,0.030263,0.97884
7695,P59533,A,V,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,0.476,0.341,0.545,0.41,0.35,0.34,0.31,0.55,869,274,ENSG00000257138,ENST00000547270,CCDS34765.1,TAS2R38,0.79,benign,0.203,tolerated,0.07,0.923749,8.762,P59533_A262V,A,V,262,AV,A262V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.347,-2.359,1.012,,,,,,18.838,18.838,72.97,0.00639081,0,0.21794,0.925927
7699,P35523,L,V,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,0,0,0,,,,,,270,9152,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.2,possibly_damaging,0.773,deleterious,0,4.29383,22.5,P35523_L198V,L,V,198,LV,L198V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.284,-2.719,1.435,,,,,,5.891,,63.66,0.000644715,0,0.0219861,0.961642
7707,P35523,R,Q,338,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,9791,370,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.34,probably_damaging,0.999,tolerated,0.1,5.32442,34,P35523_R338Q,R,Q,338,RQ,R338Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.000736766,0,0.0251253,0.890849
7709,P35523,S,F,471,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,23137,12821,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.48,probably_damaging,0.996,deleterious,0.02,4.33839,22.8,P35523_S471F,S,F,471,SF,S471F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.363,-3.907,2.544,,,,,,1.35,,61.23,0.000850962,0,0.0290196,0.837301
7790,P06858,A,T,203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,15214,34,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.43,probably_damaging,0.999,deleterious,0,5.29638,34,P06858_A203T,A,T,203,AT,A203T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.013,-3.014,2.001,,,,,,,,,0.000768843,0,0.0262191,0.861268
7796,P06858,P,L,234,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,15308,128,ENSG00000175445,ENST00000311322,CCDS6012.1,LPL,0.49,probably_damaging,1,deleterious,0,5.32374,34,P06858_P234L,P,L,234,PL,P234L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.000897111,0,0.0305933,0.81599
7855,P11362,L,S,251,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,37,10,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.34,possibly_damaging,0.444,deleterious,0,4.36153,23,P11362_L251S,L,S,251,LS,L251S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,,,,,,,,,,,,0.000524186,0,0.0178758,0.960395
7867,Q68CP4,P,L,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,1422,493,ENSG00000165102,ENST00000522082,,HGSNAT,0.16,probably_damaging,0.991,deleterious,0,4.58164,24.9,Q68CP4_P30L,P,L,30,PL,P30L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
7869,Q68CP4,R,C,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,39,9419,ENSG00000165102,ENST00000522082,,HGSNAT,0.49,probably_damaging,1,deleterious,0,3.78493,19.22,Q68CP4_R91C,R,C,91,RC,R91C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
7942,Q7Z7G8,G,D,2645,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,771128,93186,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.66,probably_damaging,0.999,deleterious,0,4.7533,26.6,Q7Z7G8_G2645D,G,D,2645,GD,G2645D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,,,,0.768623
7961,Q8WW38,M,L,571,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,0.001,0.004,,,,13473,1409,ENSG00000169946,ENST00000517361,,ZFPM2,0.56,possibly_damaging,0.898,tolerated,0.08,4.18042,21.6,Q8WW38_M571L,M,L,571,ML,M571L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,,,,,,,,,,,,0.000130181,0,0.00443945,1.00288
7968,Q9UHF7,R,Q,912,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.09,,,,,,,,,73830,3962,ENSG00000104447,ENST00000520276,,TRPS1,0.71,probably_damaging,0.996,deleterious,0,4.64216,25.5,Q9UHF7_R912Q,R,Q,912,RQ,R912Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
7991,O43525,E,K,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,271772,46346,ENSG00000184156,ENST00000521134,CCDS56554.1,KCNQ3,0.24,possibly_damaging,0.484,tolerated,0.22,4.29563,22.5,O43525_E179K,E,K,179,EK,E179K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.000361291,0,0.0123208,0.990301
8026,Q8NF50,K,R,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,63630,3907,ENSG00000107099,ENST00000432829,CCDS55283.1,DOCK8,0.2,possibly_damaging,0.715,tolerated,0.16,3.73434,18.96,Q8NF50_K405R,K,R,405,KR,K405R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,,,,,,,,,,,,,,,0.960858
8044,Q7Z2E3,P,L,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,2979,12,ENSG00000137074,ENST00000463596,,APTX,0.6,probably_damaging,0.999,deleterious,0,3.07028,16.25,Q7Z2E3_P206L,P,L,206,PL,P206L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00586277,0,0.199933,0.935726
8147,O15269,G,A,387,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,0,0,0,0.001,,,,0.003,117,5988,ENSG00000090054,ENST00000262554,CCDS6692.1,SPTLC1,0.82,probably_damaging,1,deleterious,0.01,3.80304,19.31,O15269_G387A,G,A,387,GA,G387A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-1.176,-2.733,1.557,,,,,,3.954,,71.88,0.00453065,0,0.154504,1.0393
8152,P09467,F,S,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,32569,124,ENSG00000165140,ENST00000415431,CCDS6712.1,FBP1,0.57,probably_damaging,1,deleterious,0,4.74798,26.5,P09467_F194S,F,S,194,FS,F194S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.351,-3.346,1.995,0.006,E,B,0.85,-0.97,,,,0.00115845,0,0.0395056,0.566364
8159,Q00597,R,X,185,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.07,0,0,0,,,,,,23,4786,ENSG00000158169,ENST00000375305,CCDS35071.1,FANCC,0.33,,,,,5.2387,33,Q00597_R185X,R,X,185,RX,R185X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00251904,0,0.0859045,0.959768
8274,Q53GS7,V,M,617,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,14353,1820,ENSG00000119392,ENST00000372770,CCDS6904.1,GLE1,0.94,probably_damaging,0.994,deleterious,0,3.83172,19.46,Q53GS7_V617M,V,M,617,VM,V617M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.351,-3.917,2.566,,,,,,2.563,,51.43,0.00450449,0,0.153612,0.851711
8300,Q9Y6A1,A,P,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,700,511,ENSG00000130714,ENST00000419118,,POMT1,0.08,probably_damaging,0.992,deleterious,0,2.97109,15.91,Q9Y6A1_A48P,A,P,48,AP,A48P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,,,,0.959577
8319,Q92574,L,P,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.11,,,,,,,,,1742,124,ENSG00000165699,ENST00000537172,,TSC1,0.21,probably_damaging,1,deleterious,0,5.06226,31,Q92574_L59P,L,P,59,LP,L59P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.000507603,0,0.0173103,0.981753
8348,Q9H9B1,R,X,589,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.07,,,,,,,,,22453,98,ENSG00000181090,ENST00000334856,,EHMT1,0.71,,,,,6.36771,37,Q9H9B1_R589X,R,X,589,RX,R589X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000404406,0,0.0137911,0.977351
8357,P51690,T,M,506,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,29111,344,ENSG00000157399,ENST00000545496,,ARSE,0.82,probably_damaging,0.98,deleterious,0,1.49387,10.94,P51690_T506M,T,M,506,TM,T506M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00291887,0,0.0995394,0.965955
8367,P08842,H,R,444,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,114604,20751,ENSG00000101846,ENST00000217961,CCDS14127.1,STS,0.76,probably_damaging,1,deleterious,0,3.81174,19.35,P08842_H444R,H,R,444,HR,H444R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.21,-3.3,2.09,0.035,E,B,1.03,0.76,,,,0.00161121,0,0.0549454,0.721637
8368,P08842,C,Y,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,114610,20745,ENSG00000101846,ENST00000217961,CCDS14127.1,STS,0.77,probably_damaging,1,deleterious,0,3.98299,20.4,P08842_C446Y,C,Y,446,CY,C446Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,0.019,E,b,0.25,0.51,,,,0.00177969,0,0.0606911,0.65625
8369,P23352,E,K,514,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,85,1671,ENSG00000011201,ENST00000262648,CCDS14130.1,KAL1,0.76,possibly_damaging,0.871,deleterious,0.02,3.11468,16.41,P23352_E514K,E,K,514,EK,E514K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.305,-1.949,0.644,,,,,0,14.872,14.872,53.68,0.00156155,0,0.0532519,0.873925
8406,P46019,P,L,1205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,835,131,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.98,probably_damaging,0.992,deleterious,0,3.69192,18.76,P46019_P1205L,P,L,1205,PL,P1205L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.801,-3.682,2.881,,,,,,3.363,,91.17,0.00218136,0,0.0743888,0.852347
8421,P08559,D,A,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,117,254,ENSG00000131828,ENST00000422285,CCDS14192.1,PDHA1,0.66,probably_damaging,1,deleterious,0,4.70605,26.1,P08559_D258A,D,A,258,DA,D258A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-1.264,-2.984,1.72,0.067,.,B,0.75,-0.63,,,,0.00296261,0,0.101031,0.680568
8460,P51843,Q,X,395,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,3680,603,ENSG00000169297,ENST00000378970,CCDS14223.1,NR0B1,0.84,,,,,6.96246,38,P51843_Q395X,Q,X,395,QX,Q395X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00663232,0,0.226176,0.92623
8488,P11532,N,D,2912,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,0.032,0.072,0.008,0.04,0.03,0.03,0.08,0.02,30173,11,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.79,benign,0.055,tolerated,0.21,1.8333,12.09,P11532_N2912D,N,D,2912,ND,N2912D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-2.302,-2.521,0.219,,,,,,36.27,36.27,91.42,,,,0.993369
8512,P11532,T,A,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,118559,124384,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.08,possibly_damaging,0.526,tolerated,0.05,4.18351,21.7,P11532_T279A,T,A,279,TA,T279A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.32,-2.752,1.432,,,,,,4.474,,77.75,,,,0.924295
8698,P00480,S,R,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,2290,15,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.54,probably_damaging,0.933,deleterious,0,4.34391,22.9,P00480_S192R,S,R,192,SR,S192R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-2.096,-4.18,2.084,,E,b,0.93,-0.74,4.345,,57.91,0.00549075,0,0.187246,0.552833
8699,P00480,W,R,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,2291,14,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.55,probably_damaging,1,deleterious,0,4.70257,26.1,P00480_W193R,W,R,193,WR,W193R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.407,-4.357,2.95,,E,B,1.67,-0.52,1.858,,58.76,0.00524972,0,0.179026,0.432241
8700,P00480,W,G,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,,,,,,,,,2291,14,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.55,probably_damaging,1,deleterious,0,4.55465,24.6,P00480_W193G,W,G,193,WG,W193G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.407,-3.756,2.349,,E,B,0.76,-0.52,4.604,,58.76,0.00524972,0,0.179026,0.515895
8702,P00480,G,R,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,2297,8,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.55,probably_damaging,1,deleterious,0,5.3807,34,P00480_G195R,G,R,195,GR,G195R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.62,-3.05,2.43,,S,g,0.91,-0.32,20.215,20.215,58.76,0.000729678,0,0.0248835,0.58547
8706,P00480,G,R,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,2303,2,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.56,probably_damaging,1,deleterious,0,5.44746,35,P00480_G197R,G,R,197,GR,G197R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.111,-4.144,3.033,0.149,S,b,0.91,-0.1,1.823,,42.94,0.00305571,0,0.104206,0.598858
8707,P00480,G,E,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,2304,1,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.56,probably_damaging,1,deleterious,0,5.39562,34,P00480_G197E,G,E,197,GE,G197E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.111,-3.814,2.703,0.149,S,b,0.75,-0.1,2.377,,42.94,0.00305571,0,0.104206,0.617821
8711,P00480,N,S,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,2310,6,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.56,probably_damaging,0.999,deleterious,0,4.95296,28.8,P00480_N199S,N,S,199,NS,N199S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-0.704,-2.573,1.869,0.062,H,A,0.34,-0.58,8.697,8.697,39.55,0.000592583,0,0.0202083,0.779441
8712,P00480,L,P,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,2316,12,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.57,probably_damaging,0.999,deleterious,0,4.71889,26.2,P00480_L201P,L,P,201,LP,L201P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.686,-4.297,2.611,,H,A,1.07,-0.68,1.3,,57.34,0.00517731,0,0.176557,0.536868
8722,P00480,A,V,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,2340,36,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.59,probably_damaging,0.978,tolerated,0.81,3.23838,16.86,P00480_A209V,A,V,209,AV,A209V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.727,-2.412,0.685,0.078,G,A,0.44,-0.34,12.016,12.016,72.6,0.00514614,0,0.175494,0.866057
8927,P41229,R,X,627,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.07,,,,,,,,,574,650,ENSG00000126012,ENST00000452825,CCDS55417.1,KDM5C,0.45,,,,,10.9177,44,P41229_R627X,R,X,627,RX,R627X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8944,P98174,R,Q,610,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,39934,10779,ENSG00000102302,ENST00000375135,CCDS14359.1,FGD1,0.63,probably_damaging,0.995,deleterious,0,4.78704,27,P98174_R610Q,R,Q,610,RQ,R610Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.442,-3.44,1.998,,,,,,1.575,,85.33,,,,0.867294
8979,P10275,A,D,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,0.002,0,0.003,,,,,,142564,12484,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.29,benign,0.066,tolerated,0.07,1.57875,11.23,P10275_A114D,A,D,114,AD,A114D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,,,,,,,,,,,,0.000806253,0,0.0274949,0.979217
8991,P10275,R,C,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,152948,2100,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.63,probably_damaging,0.997,deleterious,0,4.05741,20.8,P10275_R243C,R,C,243,RC,R243C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000352073,0,0.0120064,0.954625
8992,P10275,R,H,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,152949,2099,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.63,possibly_damaging,0.864,deleterious,0,5.05319,30,P10275_R243H,R,H,243,RH,R243H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000352073,0,0.0120064,1.0021
8993,P10275,M,I,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,152968,2080,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.64,possibly_damaging,0.638,tolerated,0.09,4.2863,22.4,P10275_M249I,M,I,249,MI,M249I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,,,,,,,,,,,,0.000392645,0,0.01339,1.00169
9035,P31785,R,X,289,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.07,,,,,,,,,933,327,ENSG00000147168,ENST00000374202,CCDS14406.1,IL2RG,0.78,,,,,6.3609,37,P31785_R289X,R,X,289,RX,R289X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00523727,0,0.178602,0.933136
9037,P31785,R,C,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,53,659,ENSG00000147168,ENST00000464642,,IL2RG,0.81,probably_damaging,0.998,tolerated,0.16,2.94286,15.81,P31785_R178C,R,C,178,RC,R178C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00311061,0,0.106078,0.929023
9066,P36021,A,V,224,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,100205,12910,ENSG00000147100,ENST00000276033,CCDS14426.1,SLC16A2,0.37,benign,0.398,deleterious,0.01,4.04705,20.8,P36021_A224V,A,V,224,AV,A224V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,,,,0.954618
9096,Q04656,N,S,1226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,131993,7701,ENSG00000165240,ENST00000343533,,ATP7A,0.86,probably_damaging,0.98,deleterious,0,4.36068,23,Q04656_N1226S,N,S,1226,NS,N1226S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,,,,0.952307
9105,P00558,C,R,288,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,62,1218,ENSG00000102144,ENST00000537456,,PGK1,0.74,probably_damaging,0.945,deleterious,0.01,3.28797,17.04,P00558_C288R,C,R,288,CR,C288R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00561665,0,0.191539,0.920119
9127,Q8TAB3,S,X,671,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.05,,,,,,,,,2012,114940,ENSG00000165194,ENST00000420881,CCDS48141.1,PCDH19,0.61,,,,,7.29925,39,Q8TAB3_S671X,S,X,671,SX,S671X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000577773,0,0.0197033,0.980409
9131,O60687,Y,S,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.08,0,0,0,,,,,,18009,9073,ENSG00000102359,ENST00000373004,CCDS14471.1,SRPX2,0.15,possibly_damaging,0.584,tolerated,0.32,2.71024,15.02,O60687_Y72S,Y,S,72,YS,Y72S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,-1.623,-3.302,1.679,,,,,,4.29,,50.54,0.00151374,0.00254453,0.0516217,0.900441
9132,O60687,N,S,327,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,0.001,0,0.002,,,,,,23074,4008,ENSG00000102359,ENST00000373004,CCDS14471.1,SRPX2,0.7,benign,0.03,tolerated,0.06,1.98015,12.58,O60687_N327S,N,S,327,NS,N327S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.938,-3.081,1.143,,,,,,5.997,,78.92,0.0035241,0.00724638,0.120179,0.97535
9155,Q06187,Y,X,375,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.01,,,,,,,,,757,1050,ENSG00000010671,ENST00000308731,CCDS14482.1,BTK,0.57,,,,,6.99284,38,Q06187_Y375X,Y,X,375,YX,Y375X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00179365,0,0.0611673,0.942845
9156,Q06187,Y,C,361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0,,,,,,,,,32,1819,ENSG00000010671,ENST00000308731,CCDS14482.1,BTK,0.55,probably_damaging,1,deleterious,0,4.27748,22.3,Q06187_Y361C,Y,C,361,YC,Y361C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.282,-4.598,3.316,,,,,,,,,0.000617866,0,0.0210705,0.77675
9159,Q06187,R,W,288,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,964,2814,ENSG00000010671,ENST00000372880,,BTK,0.6,probably_damaging,0.997,deleterious,0,4.04334,20.8,Q06187_R288W,R,W,288,RW,R288W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.000349599,0,0.0119221,0.810166
9160,Q06187,R,X,255,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,25599,11131,ENSG00000010671,ENST00000372880,,BTK,0.53,,,,,8.25963,40,Q06187_R255X,R,X,255,RX,R255X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00153335,0,0.0522903,0.900587
9161,Q06187,W,X,252,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.04,,,,,,,,,25591,11139,ENSG00000010671,ENST00000372880,,BTK,0.52,,,,,7.79012,39,Q06187_W252X,W,X,252,WX,W252X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000785361,0,0.0267824,0.956807
9181,P06280,M,V,296,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,212,34,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.69,benign,0.192,deleterious,0.02,3.09041,16.32,P06280_M296V,M,V,296,MV,M296V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.503,-2.133,0.63,,E,B,0.11,-0.86,15.878,15.878,63.87,0.00306264,0,0.104442,0.877873
9207,P60201,G,R,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,430,61,ENSG00000123560,ENST00000455268,,PLP1,0.54,probably_damaging,1,deleterious,0,4.04412,20.8,P60201_G74R,G,R,74,GR,G74R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.00221857,0,0.0756576,0.765034
9212,P60201,W,R,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,32,139,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.53,probably_damaging,0.997,deleterious,0,3.41113,17.52,P60201_W128R,W,R,128,WR,W128R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00266591,0,0.090913,0.952892
9241,P60891,H,Q,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,5867,5026,ENSG00000147224,ENST00000543248,CCDS14529.1,PRPS1,0.61,possibly_damaging,0.88,deleterious,0,4.06995,20.9,P60891_H193Q,H,Q,193,HQ,H193Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-2.033,-3.278,1.245,0.106,E,B,0.47,0.5,,,,0.00370464,0,0.126336,0.78094
9249,P29400,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.5,0.03,,,,,,,,,119212,9882,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,4.49505,24.1,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9300,P29400,G,V,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,8608,36170,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.24,,,deleterious,0,3.7118,18.85,P29400_G403V,G,V,403,GV,G403V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,2.47e-05,0,0.000841595,0.806553
9335,P29400,G,S,638,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,16342,28436,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.38,,,deleterious,0.01,4.46047,23.8,P29400_G638S,G,S,638,GS,G638S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,,,,,5.76e-05,0,0.00196515,0.865373
9352,P29400,G,D,743,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,20553,24225,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.44,,,deleterious,0,2.52577,14.41,P29400_G743D,G,D,743,GD,G743D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,2.7e-05,0,0.000920515,0.812925
9358,P29400,G,R,796,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,24391,20387,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.47,,,deleterious,0,3.71589,18.87,P29400_G796R,G,R,796,GR,G796R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,2.61e-05,0,0.000890371,0.793499
9364,P29400,G,E,852,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,37812,6966,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.5,,,deleterious,0,3.6791,18.7,P29400_G852E,G,E,852,GE,G852E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.074,-3.156,2.082,,,,,,5.027,,54.84,2.51e-05,0,0.000854354,0.876467
9391,P29400,G,A,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.01,,,,,,,,,3624,256,ENSG00000188153,ENST00000505728,,COL4A5,0.83,possibly_damaging,0.886,deleterious,0,5.01957,29.6,P29400_G144A,G,A,144,GA,G144A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.861,-2.63,1.769,,,,,,,,,2.48e-05,0,0.000844499,0.916571
9412,P29400,G,E,1214,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,228473,29187,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.72,,,deleterious,0,4.12083,21.2,P29400_G1214E,G,E,1214,GE,G1214E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,1.22e-05,0,0.000414898,0.811426
9547,Q13642,C,Y,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,3000,17,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,0.54,probably_damaging,1,deleterious,0,4.20072,21.8,Q13642_C150Y,C,Y,150,CY,C150Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.293,-3.939,2.646,,,,,,,,,0.000453739,0,0.0154734,0.797786
9548,Q13642,C,R,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,3008,9,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,0.55,probably_damaging,1,deleterious,0,3.94487,20.2,Q13642_C153R,C,R,153,CR,C153R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,,,,,,,,,0.000531218,0,0.0181156,0.796034
9549,Q13642,C,Y,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,3009,8,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,0.55,probably_damaging,1,deleterious,0,4.24415,22.1,Q13642_C153Y,C,Y,153,CY,C153Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.293,-3.939,2.646,,,,,,,,,0.000531218,0,0.0181156,0.797786
9550,Q13642,C,R,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,3669,3,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,0.75,probably_damaging,0.977,deleterious,0,3.2424,16.87,Q13642_C209R,C,R,209,CR,C209R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,0.00100775,0,0.0343664,0.724005
9551,Q13642,C,W,224,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.04,,,,,,,,,3716,50,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,0.8,probably_damaging,0.993,deleterious,0,2.14887,13.14,Q13642_C224W,C,W,224,CW,C224W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.412,-4.833,3.421,,,,,,,,,0.00127053,0,0.0433276,0.701381
9561,P29965,A,P,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.05,,,,,,,,,11105,1059,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.9,possibly_damaging,0.756,tolerated,0.22,3.08342,16.3,P29965_A235P,A,P,235,AP,A235P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-2.223,-3.88,1.657,,B,g,0.52,-0.41,2.476,,85.82,0.00566261,0,0.193107,0.7848
9642,P22304,H,R,229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.03,,,,,,,,,138,59,ENSG00000010404,ENST00000370443,,IDS,0.73,probably_damaging,1,deleterious,0,4.26863,22.3,P22304_H229R,H,R,229,HR,H229R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.21,-3.3,2.09,,,,,,,,,0.000323751,0,0.0110406,0.86911
9659,Q13495,E,X,172,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.01,,,,,,,,,847,67,ENSG00000013619,ENST00000426613,CCDS55525.1,MAMLD1,0.23,,,,,3.99601,20.5,Q13495_E172X,E,X,172,EX,E172X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
9760,P31150,R,P,423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.09,,,,,,,,,547,123,ENSG00000203879,ENST00000447750,CCDS35452.1,GDI1,0.95,probably_damaging,0.99,deleterious,0,2.84716,15.48,P31150_R423P,R,P,423,RP,R423P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.899,-2.051,0.152,0.175,H,A,0.68,0.24,29.773,29.773,60.18,0.00242354,0,0.0826477,0.8552
9815,Q05066,Y,F,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.13,,,,,,,,,380,120,ENSG00000184895,ENST00000534739,,SRY,0.77,probably_damaging,1,deleterious,0,2.70606,15.01,Q05066_Y127F,Y,F,127,YF,Y127F,Hydrophobic,Hydrophobic,5.66,3.32,-2.34,181,165,-16,193.6,189.9,-3.7,22,-1.181,-2.719,1.538,0.519,.,B,0.37,0,,,,0.0032988,0,0.112496,0.871215
9820,Q05066,G,E,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,284,216,ENSG00000184895,ENST00000534739,,SRY,0.58,probably_damaging,1,deleterious,0,2.67171,14.89,Q05066_G95E,G,E,95,GE,G95E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,0.253,H,A,0.75,0,,,,0.00132475,0,0.0451766,0.751425
9821,Q05066,G,R,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.07,,,,,,,,,283,217,ENSG00000184895,ENST00000534739,,SRY,0.58,probably_damaging,1,deleterious,0,2.27025,13.55,Q05066_G95R,G,R,95,GR,G95R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.253,H,A,0.91,0,,,,0.00132475,0,0.0451766,0.732106
9822,Q05066,Q,X,93,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.5,0.08,,,,,,,,,277,223,ENSG00000184895,ENST00000534739,,SRY,0.56,,,,,1.05747,9.319,Q05066_Q93X,Q,X,93,QX,Q93X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00546476,0,0.18636,0.937083
9824,Q05066,I,M,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.09,,,,,,,,,270,230,ENSG00000184895,ENST00000534739,,SRY,0.55,probably_damaging,1,deleterious,0,1.80973,12.01,Q05066_I90M,I,M,90,IM,I90M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.313,-3.807,2.494,0.015,H,A,0.07,0,,,,0.00147976,0,0.0504628,0.765173
9826,Q05066,I,T,68,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.5,0.12,,,,,,,,,203,297,ENSG00000184895,ENST00000534739,,SRY,0.41,possibly_damaging,0.687,deleterious,0,2.18982,13.28,Q05066_I68T,I,T,68,IT,I68T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-2.012,-3.232,1.22,0.444,H,A,0.7,0,1.941,,48.04,0.00427364,0,0.14574,0.810507
130,Q30201,V,M,59,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.51,0.07,,,,,,,,,3500,2044,ENSG00000010704,ENST00000470149,,HFE,0.17,probably_damaging,0.933,deleterious,0,3.30576,17.11,Q30201_V59M,V,M,59,VM,V59M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.591,-2.995,1.404,,E,B,0.11,-1.36,5.12,5.12,36.21,0.00249226,0,0.0985635,0.742943
191,P49189,C,S,140,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.51,0.03,,,,,,,,,15290,194,ENSG00000143149,ENST00000354775,CCDS1250.2,ALDH9A1,0.27,benign,0.023,tolerated,0.26,1.57336,11.22,P49189_C140S,C,S,140,CS,C140S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,,,,,,,,,,,,,,,0.945714
285,P15918,A,V,156,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.51,0.07,,,,,,,,,5746,5986,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.15,possibly_damaging,0.846,deleterious,0.01,3.4066,17.51,P15918_A156V,A,V,156,AV,A156V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.522,-2.543,1.021,,,,,,24.135,24.135,89.65,0.00132108,0,0.0522457,0.97938
32,Q13148,R,S,245,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,368,367,ENSG00000120948,ENST00000439080,,TARDBP,0.82,probably_damaging,0.96,deleterious,0.04,2.08432,12.93,Q13148_R245S,R,S,245,RS,R245S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,,,,,,,,,,,,0.00112109,0,0.0382315,0.896196
33,Q13148,A,G,250,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,382,353,ENSG00000120948,ENST00000439080,,TARDBP,0.84,benign,0.001,tolerated,0.14,0.878598,8.565,Q13148_A250G,A,G,250,AG,A250G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,,,,,,,,,,,,0.00139164,0,0.047458,0.915708
59,O95140,R,Q,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,10668,14,ENSG00000116688,ENST00000412236,,MFN2,0.96,probably_damaging,0.992,deleterious,0,5.44805,35,O95140_R94Q,R,Q,94,RQ,R94Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,,,,,,,,,,,,0.861177
360,P26439,T,M,259,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,0,0,0,,,,,,4864,189,ENSG00000203859,ENST00000543831,CCDS902.1,HSD3B2,0.7,probably_damaging,1,deleterious,0,3.53177,18.03,P26439_T259M,T,M,259,TM,T259M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-0.998,-4.336,3.338,,,,,,,,,0.00327755,0,0.111771,0.78388
369,P54868,Y,C,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,396,8743,ENSG00000134240,ENST00000544913,CCDS53353.1,HMGCS2,0.36,probably_damaging,0.999,deleterious,0,4.02142,20.6,P54868_Y167C,Y,C,167,YC,Y167C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,0.006,G,A,0.25,-0.88,,,,0.00140512,0,0.0479176,0.584908
393,P43235,X,W,330,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.51,0.05,,,,,,,,,11525,591,ENSG00000143387,ENST00000271651,CCDS969.1,CTSK,1,,,,,3.70452,18.82,P43235_X330W,X,W,330,XW,X330W,Stop,Hydrophobic,5.71,5.89,0.18,132.5,204,71.5,141.9,227.8,85.9,,,,,,,,,,,,,,,,0.934041
413,P55265,R,X,517,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.05,,,,,,,,,1405,857,ENSG00000160710,ENST00000292205,,ADAR,0.41,,,,,5.6034,36,P55265_R517X,R,X,517,RX,R517X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000399791,0,0.0136337,0.977351
455,P02549,D,E,791,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,0.016,0.048,0,0.01,,,0.05,,23863,52187,ENSG00000163554,ENST00000368147,,SPTA1,0.33,probably_damaging,0.997,tolerated,0.2,1.5684,11.2,P02549_D791E,D,E,791,DE,D791E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.479,-1.95,0.471,,,,,,13.693,13.693,51.01,0.000158741,0,0.0054134,1.01085
463,P78508,R,C,348,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,0,0,0,0.001,0.002,,,,805,1020,ENSG00000177807,ENST00000368089,CCDS1193.1,KCNJ10,0.92,possibly_damaging,0.856,tolerated,0.15,1.71175,11.68,P78508_R348C,R,C,348,RC,R348C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.362,-2.854,0.492,,,,,,41.954,41.954,86.81,0.0114169,0.0322581,0.38934,0.909728
556,Q99972,C,R,433,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,,,,,,,,,16529,726,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.86,probably_damaging,1,deleterious,0,3.23502,16.84,Q99972_C433R,C,R,433,CR,C433R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.253,-2.418,1.165,,,,,,23.004,23.004,66.87,0.00112232,0,0.0382736,0.937809
560,Q99972,Q,X,368,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.05,0.001,0,0.001,0.001,,,,0.003,16334,921,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.73,,,,,3.57886,18.23,Q99972_Q368X,Q,X,368,QX,Q368X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00187592,0,0.0639727,0.963541
561,Q99972,G,R,367,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,16331,924,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.73,probably_damaging,1,deleterious,0,3.95068,20.2,Q99972_G367R,G,R,367,GR,G367R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,,,,,,,,0.0014891,0,0.0507813,0.703784
574,Q6PI48,L,F,613,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,16691,235,ENSG00000117593,ENST00000361951,CCDS1311.1,DARS2,0.95,probably_damaging,0.94,tolerated,0.1,4.69354,26,Q6PI48_L613F,L,F,613,LF,L613F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.462,-3.574,2.112,,,,,,16.135,16.135,66.05,0.00348679,0,0.118907,0.905845
621,P19878,R,W,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,0.001,0.002,0,0.02,0.04,0.03,0.002,,750,30,ENSG00000116701,ENST00000413720,CCDS53447.1,NCF2,0.73,possibly_damaging,0.813,deleterious,0,4.09131,21.1,P19878_R350W,R,W,350,RW,R350W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00291312,0,0.0993433,0.960989
704,O14896,E,X,92,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.01,,,,,,,,,5714,5727,ENSG00000117595,ENST00000456314,,IRF6,0.33,,,,,6.9583,38,O14896_E92X,E,X,92,EX,E92X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00100924,0,0.0344171,0.910457
711,O75445,W,X,3955,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.04,,,,,,,,,695165,105338,ENSG00000042781,ENST00000366943,,USH2A,0.76,,,,,22.2881,54,O75445_W3955X,W,X,3955,WX,W3955X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
815,O14832,N,H,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,15837,23,ENSG00000107537,ENST00000396913,CCDS41489.1,PHYH,0.71,probably_damaging,1,deleterious,0,3.34478,17.26,O14832_N169H,N,H,169,NH,N169H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,,,,,,,,,,,,0.00672247,0,0.22925,0.943355
900,P61457,E,X,87,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.05,,,,,,,,,1894,74,ENSG00000166228,ENST00000299299,CCDS31217.1,PCBD1,0.84,,,,,4.14759,21.4,P61457_E87X,E,X,87,EX,E87X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.017581,0.0588235,0.599547,0.93825
950,O75112,R,C,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,0,0,0,,,,,,30632,718,ENSG00000122367,ENST00000372056,CCDS53549.1,LDB3,0.96,possibly_damaging,0.882,deleterious,0,4.4783,24,O75112_R383C,R,C,383,RC,R383C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,6.58e-05,0,0.00224481,0.962266
970,O95340,R,X,333,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.08,,,,,,,,,66452,18631,ENSG00000198682,ENST00000427144,,PAPSS2,0.54,,,,,3.42159,17.57,O95340_R333X,R,X,333,RX,R333X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1027,Q92887,I,F,1173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,,,,,,,,,53461,16000,ENSG00000023839,ENST00000370449,CCDS7484.1,ABCC2,0.76,probably_damaging,0.999,deleterious,0,4.10878,21.2,Q92887_I1173F,I,F,1173,IF,I1173F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.316,-3.487,2.171,,,,,,2.119,,38.71,,,,0.793439
1097,P04181,R,X,288,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.05,,,,,,,,,5351,36,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.96,,,,,5.84664,36,P04181_R288X,R,X,288,RX,R288X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00381084,0,0.129957,0.951177
1110,P04181,R,P,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.08,,,,,,,,,484,26,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.37,benign,0.428,deleterious,0.01,3.99932,20.5,P04181_R112P,R,P,112,RP,R112P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.000717425,0,0.0244657,0.962088
1207,P68871,L,Q,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0,,,,,,,,,30,174,ENSG00000244734,ENST00000335295,CCDS7753.1,HBB,0.22,probably_damaging,1,deleterious,0,4.00767,20.5,P68871_L33Q,L,Q,33,LQ,L33Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-0.972,-3.98,3.008,,H,A,1.19,-0.46,,,,0.00363947,0,0.124113,0.568245
1234,P69892,H,Y,83,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0,,,,,,,,,412,941,ENSG00000196565,ENST00000380252,,HBG2,0.61,probably_damaging,1,deleterious,0,3.83295,19.47,P69892_H83Y,H,Y,83,HY,H83Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,,,,0.953139
1363,P15918,R,W,776,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,7605,56,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.74,probably_damaging,0.975,deleterious,0,3.09524,16.34,P15918_R776W,R,W,776,RW,R776W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.064,-5.197,4.133,,,,,,,,,4.07e-05,0,0.00138892,0.792566
1421,O75489,T,I,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,88,292,ENSG00000213619,ENST00000263774,CCDS7941.1,NDUFS3,0.55,probably_damaging,0.998,deleterious,0,4.80334,27.1,O75489_T145I,T,I,145,TI,T145I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.32,-2.176,0.856,,,,,,23.45,23.45,86.36,,,,0.947561
1447,Q96G97,E,X,189,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.04,,,,,,,,,79,26,ENSG00000168000,ENST00000421906,CCDS8031.1,BSCL2,0.47,,,,,5.99526,37,Q96G97_E189X,E,X,189,EX,E189X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00275023,0,0.0937886,0.953272
1465,P11217,R,X,576,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.07,,,,,,,,,50,818,ENSG00000068976,ENST00000164139,CCDS8079.1,PYGM,0.68,,,,,10.0035,43,P11217_R576X,R,X,576,RX,R576X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000426066,0,0.0145297,0.977351
1466,P11217,Y,X,574,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.07,,,,,,,,,46,822,ENSG00000068976,ENST00000164139,CCDS8079.1,PYGM,0.68,,,,,9.37466,42,P11217_Y574X,Y,X,574,YX,Y574X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000475697,0,0.0162222,0.970188
1563,P50416,L,P,484,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.08,,,,,,,,,34857,23034,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.63,probably_damaging,0.988,deleterious,0.05,2.36308,13.86,P50416_L484P,L,P,484,LP,L484P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.494,-2.347,0.853,,,,,,38.017,38.017,81.63,0.00161876,0,0.055203,0.970334
1655,Q9ULV1,W,X,226,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.03,,,,,,,,,3314,342,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.42,,,,,7.27526,38,Q9ULV1_W226X,W,X,226,WX,W226X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000645173,0,0.0220017,0.956807
1678,P14679,R,Q,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,0,0,0,0.001,0.002,,,,290,22429,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.15,probably_damaging,0.997,deleterious,0,5.40107,34,P14679_R77Q,R,Q,77,RQ,R77Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.763,-3.528,2.765,,,,,,,,,0.00036268,0,0.0123681,0.815898
1811,P08397,L,P,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,,,,,,,,,616,273,ENSG00000256269,ENST00000539986,,HMBS,0.34,probably_damaging,1,deleterious,0,4.60648,25.1,P08397_L64P,L,P,64,LP,L64P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,,,,,,,,,0.00330378,0,0.112666,0.77051
1939,P37088,R,X,208,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.04,0,0,0,,,,,,123,31,ENSG00000111319,ENST00000540037,,SCNN1A,0.56,,,,,9.22768,42,P37088_R208X,R,X,208,RX,R208X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00156372,0,0.0533261,0.900587
1944,P60174,E,D,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,375,122,ENSG00000111669,ENST00000396705,CCDS8566.1,TPI1,0.42,probably_damaging,0.999,deleterious,0.01,3.93101,20,P60174_E105D,E,D,105,ED,E105D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,,,,,,,,,,,,0.00520391,0,0.177464,0.953577
1989,Q99959,R,X,691,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.05,,,,,,,,,19316,49,ENSG00000057294,ENST00000340811,CCDS31771.1,PKP2,0.83,,,,,6.37706,37,Q99959_R691X,R,X,691,RX,R691X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2053,P08237,W,C,757,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,3123,45,ENSG00000152556,ENST00000340802,CCDS53786.1,PFKM,0.89,probably_damaging,0.998,deleterious,0,4.29823,22.5,P08237_W757C,W,C,757,WC,W757C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,,,,0.890533
2128,P04264,L,P,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,,,,,,,,,541,5131,ENSG00000167768,ENST00000252244,CCDS8836.1,KRT1,0.25,probably_damaging,1,deleterious,0,3.33975,17.24,P04264_L161P,L,P,161,LP,L161P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.116,-2.263,1.147,,,,,,16.978,16.978,34.32,,,,0.83869
2165,P43897,R,W,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,4115,172,ENSG00000123297,ENST00000350762,,TSFM,0.95,probably_damaging,0.986,deleterious,0,3.91421,19.91,P43897_R272W,R,W,272,RW,R272W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
2258,P16615,C,R,451,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,47589,6984,ENSG00000174437,ENST00000548169,,ATP2A2,0.48,probably_damaging,0.994,deleterious,0,4.57235,24.8,P16615_C451R,C,R,451,CR,C451R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.000183525,0,0.00625857,0.968092
2260,P16615,N,S,740,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.09,,,,,,,,,827,2818,ENSG00000174437,ENST00000395494,,ATP2A2,0.73,possibly_damaging,0.864,deleterious,0,4.23718,22,P16615_N740S,N,S,740,NS,N740S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.000609304,0,0.0207785,0.994154
2362,P31371,S,N,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,54,20239,ENSG00000102678,ENST00000382353,CCDS9298.1,FGF9,0.48,benign,0.429,deleterious,0.01,4.46488,23.8,P31371_S99N,S,N,99,SN,S99N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.519,-2.905,1.386,0.712,E,B,0.34,-0.44,,,,0.00553971,0,0.188916,0.796309
2425,P35670,R,X,889,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.03,0,0,0,,,,,,24574,2649,ENSG00000123191,ENST00000400370,,ATP7B,0.86,,,,,4.52101,24.3,P35670_R889X,R,X,889,RX,R889X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000407509,0,0.0138969,0.977351
2515,P12883,E,K,935,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,11693,11288,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.48,probably_damaging,0.948,deleterious,0.02,5.30722,34,P12883_E935K,E,K,935,EK,E935K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.00015086,0,0.00514464,0.919346
2707,P49770,V,D,316,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,598,485,ENSG00000119718,ENST00000266126,CCDS9836.1,EIF2B2,0.9,probably_damaging,0.984,deleterious,0,4.97467,29.1,P49770_V316D,V,D,316,VD,V316D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.304,-3.654,2.35,,,,,,,,,0.00542354,0,0.184954,0.757376
2756,P01011,P,A,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,0.004,0.002,0.006,0.002,,0.003,,0.004,1663,164,ENSG00000196136,ENST00000393078,CCDS32150.1,SERPINA3,0.6,benign,0.032,tolerated,0.09,-0.024975,3.886,P01011_P252A,P,A,252,PA,P252A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.433,-2.409,0.976,0.105,E,B,0.52,-1.04,17.393,17.393,60.05,0.0035454,0,0.120906,0.714936
2784,Q9NPE3,R,W,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,,,,,,,,,1061,344,ENSG00000182117,ENST00000328848,CCDS10037.1,NOP10,0.53,possibly_damaging,0.778,deleterious,0,4.67854,25.8,Q9NPE3_R34W,R,W,34,RW,R34W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.572,-5.053,3.481,,,,,,0.394,,67.19,0.0127902,0.0333333,0.436172,0.799003
2850,P35555,C,Y,1117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,158285,56661,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.39,probably_damaging,0.999,deleterious,0,4.62139,25.3,P35555_C1117Y,C,Y,1117,CY,C1117Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,,,,0.755919
2969,P54098,M,R,1163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,298,270,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.94,probably_damaging,0.924,deleterious,0,3.97484,20.3,P54098_M1163R,M,R,1163,MR,M1163R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.775,-4.218,2.443,,,,,,1.999,,64.25,0.00240201,0,0.0819137,0.860791
3240,P51170,G,S,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,0.013,0.036,0.001,0.01,0.01,0.01,0.03,,6885,27284,ENSG00000166828,ENST00000300061,CCDS10608.1,SCNN1G,0.28,benign,0.003,tolerated,1,-1.98942,0.007,P51170_G183S,G,S,183,GS,G183S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.95,-1.708,-0.242,,,,,,19.586,19.586,89.06,0.00155737,0.00214592,0.0531096,1.01999
3246,P51168,N,S,333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,12525,4242,ENSG00000168447,ENST00000307331,,SCNN1B,0.49,benign,0.17,tolerated,0.86,0.383029,6.08,P51168_N333S,N,S,333,NS,N333S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.000833424,0,0.0284215,0.994154
3329,Q9BXC9,V,G,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,,,,,,,,,1558,4570,ENSG00000125124,ENST00000568104,,BBS2,0.11,probably_damaging,0.962,deleterious,0,4.80538,27.2,Q9BXC9_V75G,V,G,75,VG,V75G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.288,-3.483,2.195,,,,,,1.657,,81.28,0.00142231,0,0.0485035,0.863398
3370,P17735,R,X,417,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.07,,,,,,,,,1675,271,ENSG00000198650,ENST00000355962,CCDS10903.1,TAT,0.92,,,,,6.05331,37,P17735_R417X,R,X,417,RX,R417X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00544447,0,0.185668,0.933136
3560,Q01453,D,V,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,1607,425,ENSG00000109099,ENST00000426385,,PMP22,0.3,,,,,1.30757,10.28,Q01453_D37V,D,V,37,DV,D37V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.139,-3.489,2.35,,,,,,,,,0.00691405,0,0.235783,0.749528
3561,Q01453,W,R,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,1579,453,ENSG00000109099,ENST00000426385,,PMP22,0.22,,,,,1.63424,11.42,Q01453_W28R,W,R,28,WR,W28R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.301,-3.893,2.592,,,,,,,,,0.00431634,0,0.147196,0.764947
3634,P35527,V,M,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,577,5638,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.27,probably_damaging,1,deleterious,0,3.15709,16.56,P35527_V171M,V,M,171,VM,V171M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.004,-3.905,2.901,,,,,,,,,0.000334666,0,0.0114128,0.830285
3693,P35575,E,K,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,3230,9342,ENSG00000131482,ENST00000253801,CCDS11446.1,G6PC,0.31,probably_damaging,0.999,deleterious,0,5.08817,31,P35575_E110K,E,K,110,EK,E110K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,,,,0.855075
3696,P35575,G,E,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,8609,3963,ENSG00000131482,ENST00000253801,CCDS11446.1,G6PC,0.52,possibly_damaging,0.815,deleterious,0,3.83323,19.47,P35575_G184E,G,E,184,GE,G184E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,,,,0.769878
3777,P05106,L,W,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,30612,6979,ENSG00000259207,ENST00000435993,,ITGB3,0.13,probably_damaging,1,deleterious,0,4.72229,26.3,P05106_L96W,L,W,96,LW,L96W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,,,,,,,,,,,,0.000688296,0,0.0234723,0.979005
3778,P05106,M,R,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,30615,6976,ENSG00000259207,ENST00000435993,,ITGB3,0.13,probably_damaging,0.999,deleterious,0,3.91533,19.91,P05106_M97R,M,R,97,MR,M97R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,0.00123017,0,0.0419514,0.914927
3779,P05106,D,Y,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,30617,6974,ENSG00000259207,ENST00000435993,,ITGB3,0.13,probably_damaging,1,deleterious,0,4.79928,27.1,P05106_D98Y,D,Y,98,DY,D98Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.00107975,0,0.0368217,0.899638
3785,P05106,C,Y,353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,27,461,ENSG00000259207,ENST00000435993,,ITGB3,0.47,probably_damaging,1,deleterious,0,4.84347,27.6,P05106_C353Y,C,Y,353,CY,C353Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.000631506,0,0.0215357,0.968699
3893,P35499,T,M,1313,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,29094,5271,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.72,probably_damaging,0.998,deleterious,0,4.07425,20.9,P35499_T1313M,T,M,1313,TM,T1313M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-0.972,-2.783,1.811,,,,,,0.776,0.776,4.79,5.98e-05,0,0.00203933,0.884387
3984,P63261,S,P,365,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.09,,,,,,,,,401,37,ENSG00000184009,ENST00000571327,,ACTG1,0.95,,,,,1.73043,11.75,P63261_S365P,S,P,365,SP,S365P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.674,-3.588,1.914,0.48,H,A,0.25,0,0.969,,67.73,0.00565512,0,0.192851,0.847797
4015,Q01718,C,F,251,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,882,142,ENSG00000185231,ENST00000327606,CCDS11869.1,MC2R,0.85,probably_damaging,1,deleterious,0,3.86925,19.66,Q01718_C251F,C,F,251,CF,C251F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-0.813,-4.109,3.296,,,,,,,,,0.000452111,0,0.0154179,0.792578
4020,Q01718,D,N,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,,,,,,,,,449,575,ENSG00000185231,ENST00000327606,CCDS11869.1,MC2R,0.36,probably_damaging,1,deleterious,0,3.96443,20.3,Q01718_D107N,D,N,107,DN,D107N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.829,-2.579,1.75,,,,,,16.103,16.103,50.17,0.000454239,0,0.0154905,0.950643
4218,P06213,K,X,148,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.12,,,,,,,,,26446,155300,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.11,,,,,6.88802,38,P06213_K148X,K,X,148,KX,K148X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000323789,0,0.0110419,0.98231
4219,P06213,I,M,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.11,,,,,,,,,26442,155304,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.11,probably_damaging,0.996,deleterious,0,2.7321,15.1,P06213_I146M,I,M,146,IM,I146M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.54,-3.87,2.33,,E,B,0.07,-0.78,2.102,,66.28,0.000316845,0,0.0108051,0.717512
4236,P26358,Y,H,495,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,40062,21671,ENSG00000130816,ENST00000340748,CCDS12228.1,DNMT1,0.31,probably_damaging,0.998,deleterious,0,3.43236,17.61,P26358_Y495H,Y,H,495,YH,Y495H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.096,-3.597,2.501,,,,,,,,,0.000288635,0,0.00984304,0.822567
4257,O00754,R,X,759,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.07,,,,,,,,,17266,2857,ENSG00000104774,ENST00000221363,CCDS54224.1,MAN2B1,0.75,,,,,5.48541,35,O00754_R759X,R,X,759,RX,R759X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00179425,0,0.0611876,0.948631
4582,P39210,N,K,103,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,2508,41,ENSG00000115204,ENST00000405076,,MPV17,0.91,probably_damaging,0.994,deleterious,0,4.20612,21.8,P39210_N103K,N,K,103,NK,N103K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,,,,0.947543
4600,Q9UM73,I,T,1250,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,710787,16649,ENSG00000171094,ENST00000389048,CCDS33172.1,ALK,0.77,probably_damaging,1,deleterious,0,4.54641,24.6,Q9UM73_I1250T,I,T,1250,IT,I1250T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.212,-3.239,2.027,0.015,.,B,0.7,-0.7,,,,,,,0.621691
4701,P23945,I,T,483,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,34127,472,ENSG00000170820,ENST00000346173,,FSHR,0.76,probably_damaging,0.996,deleterious,0,3.58923,18.28,P23945_I483T,I,T,483,IT,I483T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.00122995,0,0.0419438,0.916524
4809,P19447,T,P,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,1369,291,ENSG00000163161,ENST00000493187,,ERCC3,0.08,probably_damaging,0.999,deleterious,0,5.00344,29.4,P19447_T55P,T,P,55,TP,T55P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.000859305,0,0.0293041,0.995239
4884,Q15858,W,X,897,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.08,,,,,,,,,34624,24652,ENSG00000169432,ENST00000409672,CCDS46441.1,SCN9A,0.45,,,,,11.0711,44,Q15858_W897X,W,X,897,WX,W897X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
5034,Q9Y276,R,P,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,90,155,ENSG00000074582,ENST00000412366,CCDS2419.1,BCS1L,0.37,probably_damaging,0.974,deleterious,0,4.16295,21.5,Q9Y276_R155P,R,P,155,RP,R155P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.511,-3.61,2.099,,,,,,2.104,,77.57,0.00353084,0,0.120409,0.867837
5091,P53420,C,X,1638,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.04,,,,,,,,,156639,150,ENSG00000081052,ENST00000329662,,COL4A4,0.97,,,,,10.3861,43,P53420_C1638X,C,X,1638,CX,C1638X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
5126,P12111,R,X,58,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.03,,,,,,,,,15399,4301,ENSG00000163359,ENST00000392003,CCDS54439.1,COL6A3,0.06,,,,,6.39747,37,P12111_R58X,R,X,58,RX,R58X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5262,Q8NBS3,G,D,448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,27,744,ENSG00000088836,ENST00000539553,CCDS54446.1,SLC4A11,0.51,probably_damaging,0.999,deleterious,0,3.84521,19.53,Q8NBS3_G448D,G,D,448,GD,G448D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.000928708,0,0.0316708,0.97884
5282,Q8NFJ6,Q,R,210,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,11804,526,ENSG00000101292,ENST00000546004,CCDS13089.1,PROKR2,0.55,probably_damaging,0.999,deleterious,0,4.29121,22.4,Q8NFJ6_Q210R,Q,R,210,QR,Q210R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.358,-3.035,1.677,,,,,,,,,0.0031188,0,0.106357,0.89053
5295,P78504,C,Y,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,6055,18693,ENSG00000101384,ENST00000423891,,JAG1,0.07,probably_damaging,0.999,deleterious,0,4.95566,28.8,P78504_C75Y,C,Y,75,CY,C75Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.000219718,0,0.00749283,0.968699
5316,Q9UBC3,A,T,595,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.09,,,,,,,,,20348,704,ENSG00000088305,ENST00000201963,CCDS13204.1,DNMT3B,0.7,probably_damaging,0.995,deleterious,0,4.5946,25,Q9UBC3_A595T,A,T,595,AT,A595T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000983427,0,0.0335369,0.925816
5357,P00813,P,Q,297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,5389,1293,ENSG00000196839,ENST00000372874,CCDS13335.1,ADA,0.82,probably_damaging,1,deleterious,0,4.61939,25.3,P00813_P297Q,P,Q,297,PQ,P297Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.147,-3.71,2.563,0.105,H,A,0.12,-0.93,2.333,,78.79,0.00299279,0,0.10206,0.613235
5377,P10619,V,M,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,,,,,,,,,128,1896,ENSG00000064601,ENST00000419493,,CTSA,0.33,probably_damaging,0.993,deleterious,0,5.0531,30,P10619_V115M,V,M,115,VM,V115M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00351681,0,0.119931,0.978315
5396,Q9UJQ4,R,X,617,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.08,0,0,0,,,,,,11775,6369,ENSG00000101115,ENST00000217086,CCDS13438.1,SALL4,0.59,,,,,6.64172,38,Q9UJQ4_R617X,R,X,617,RX,R617X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000290022,0,0.00989035,0.977351
5401,O95467,R,C,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,,,,,,,,,1702,23,ENSG00000087460,ENST00000349036,,GNAS,0.94,probably_damaging,0.999,deleterious,0,4.33699,22.8,O95467_R182C,R,C,182,RC,R182C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
5596,P35240,F,S,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,32822,47095,ENSG00000186575,ENST00000403435,,NF2,0.11,probably_damaging,1,deleterious,0,5.11973,32,P35240_F62S,F,S,62,FS,F62S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.351,-3.346,1.995,0.071,E,b,0.85,-1.85,,,,0.000372855,0,0.0127151,0.55861
5598,P35240,R,X,103,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.04,,,,,,,,,57314,22603,ENSG00000186575,ENST00000347330,,NF2,0.47,,,,,7.92384,40,P35240_R103X,R,X,103,RX,R103X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000434479,0,0.0148166,0.977351
5608,P35625,E,X,162,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.07,,,,,,,,,1209,795,ENSG00000100234,ENST00000266085,CCDS13911.1,TIMP3,0.77,,,,,4.81372,27.2,P35625_E162X,E,X,162,EX,E162X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
5832,P10828,P,H,453,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,42684,74,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.98,probably_damaging,0.996,deleterious,0,4.96416,28.9,P10828_P453H,P,H,453,PH,P453H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.115,-4.416,3.301,0.835,H,A,0.35,-0.32,,,,0.0320712,0,1.0937,0.692321
5862,P37173,R,X,495,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.07,,,,,,,,,81869,5665,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.87,,,,,8.74066,41,P37173_R495X,R,X,495,RX,R495X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5909,Q14524,D,N,1765,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,82400,596,ENSG00000183873,ENST00000449557,,SCN5A,0.9,probably_damaging,0.94,deleterious,0.04,4.33861,22.8,Q14524_D1765N,D,N,1765,DN,D1765N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
6023,O75369,E,K,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,3182,89107,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.09,probably_damaging,0.998,deleterious,0,6.02636,37,O75369_E227K,E,K,227,EK,E227K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,0.225,H,A,1.3,-0.34,,,,3.31e-05,0,0.00112884,0.797659
6026,O75369,G,S,361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,19425,72864,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.14,probably_damaging,1,deleterious,0.01,5.71351,36,O75369_G361S,G,S,361,GS,G361S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,,,,,7.06e-05,0,0.00240808,0.865373
6027,O75369,G,E,363,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,19432,72857,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.14,probably_damaging,1,deleterious,0,5.28132,33,O75369_G363E,G,E,363,GE,G363E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,,,,,,,,,5.81e-05,0,0.00198186,0.811426
6031,O75369,G,R,1586,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.09,,,,,,,,,3985,34712,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.61,probably_damaging,1,deleterious,0,5.12623,32,O75369_G1586R,G,R,1586,GR,G1586R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,6.35e-05,0,0.0021668,0.793499
6089,P36551,R,C,447,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,0,0,0,,,,,,4790,700,ENSG00000080819,ENST00000264193,CCDS2932.1,CPOX,0.98,probably_damaging,0.952,deleterious,0,4.30885,22.6,P36551_R447C,R,C,447,RC,R447C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.783,-2.694,0.911,,,,,,25.975,25.975,83.04,,,,0.894353
6101,Q93099,V,G,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,3246,5228,ENSG00000113924,ENST00000494453,,HGD,0.74,probably_damaging,0.995,deleterious,0,3.97697,20.4,Q93099_V107G,V,G,107,VG,V107G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,,,,,,,,,,,,0.00340535,0,0.116129,0.93939
6108,P41180,P,A,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,28,3335,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.04,probably_damaging,0.998,deleterious,0.02,4.86233,27.8,P41180_P39A,P,A,39,PA,P39A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.807,-2.463,0.656,,,,,,10.291,10.291,37.11,0.00134627,0,0.0459105,0.976475
6125,P41180,R,Q,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.08,,,,,,,,,7553,23573,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.21,benign,0.283,tolerated,0.39,0.706118,7.765,P41180_R227Q,R,Q,227,RQ,R227Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.665,-2.716,0.051,,,,,,7.541,7.541,65.12,0.00120957,0,0.0412488,1.01105
6126,P41180,R,L,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.08,,,,,,,,,7553,23573,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.21,possibly_damaging,0.571,tolerated,0.2,1.57527,11.22,P41180_R227L,R,L,227,RL,R227L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-2.665,-2.339,-0.326,,,,,,13.411,13.411,65.12,0.00120957,0,0.0412488,0.998018
6365,Q92685,W,R,23,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,456,731,ENSG00000214160,ENST00000445626,CCDS46967.1,ALG3,0.06,probably_damaging,1,deleterious,0,3.86996,19.66,Q92685_W23R,W,R,23,WR,W23R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,,,,0.936836
6486,P09417,W,X,90,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.03,,,,,,,,,7578,14363,ENSG00000151552,ENST00000508623,,QDPR,0.56,,,,,5.78804,36,P09417_W90X,W,X,90,WX,W90X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00553235,0.00649351,0.188665,0.909605
6872,O76082,R,Q,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,8069,2997,ENSG00000197375,ENST00000245407,CCDS4154.1,SLC22A5,0.3,probably_damaging,1,deleterious,0,5.58903,35,O76082_R169Q,R,Q,169,RQ,R169Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.000583235,0,0.0198895,0.857498
6896,Q15582,G,D,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,293,639,ENSG00000120708,ENST00000503087,,TGFBI,0.41,probably_damaging,0.999,deleterious,0,4.03856,20.7,Q15582_G32D,G,D,32,GD,G32D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.000611154,0,0.0208416,0.97884
6922,Q9UBF9,S,F,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,,,,,,,,,2891,5428,ENSG00000120729,ENST00000239926,CCDS4194.1,MYOT,0.08,possibly_damaging,0.884,deleterious,0,4.42556,23.5,Q9UBF9_S39F,S,F,39,SF,S39F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.348,-3.803,2.455,,,,,,,,,0.000237847,0,0.00811109,0.801061
6948,Q8TF17,R,X,904,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.01,0,0,0,,,,,,4595,458,ENSG00000169247,ENST00000515425,CCDS4293.1,SH3TC2,0.7,,,,,6.29597,37,Q8TF17_R904X,R,X,904,RX,R904X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00071723,0,0.024459,0.977351
7064,P00488,Y,C,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.09,,,,,,,,,1,18397,ENSG00000124491,ENST00000264870,CCDS4496.1,F13A1,0.39,probably_damaging,1,deleterious,0,3.81889,19.39,P00488_Y284C,Y,C,284,YC,Y284C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.326,-4.702,3.376,0.033,.,l,0.25,-0.39,0.158,,14.62,0.000934444,0,0.0318665,0.604711
7074,P15924,R,X,1934,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.07,,,,,,,,,41445,3511,ENSG00000096696,ENST00000379802,CCDS4501.1,DSP,0.67,,,,,12.4087,46,P15924_R1934X,R,X,1934,RX,R1934X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7167,Q13950,R,P,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.09,,,,,,,,,9460,115265,ENSG00000124813,ENST00000359524,CCDS4913.1,RUNX2,0.31,probably_damaging,0.96,deleterious,0,4.75087,26.6,Q13950_R155P,R,P,155,RP,R155P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.000330898,0,0.0112843,0.962088
7198,P08F94,R,X,2671,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.03,,,,,,,,,239740,127022,ENSG00000170927,ENST00000340994,CCDS4936.1,PKHD1,0.79,,,,,15.5719,49,P08F94_R2671X,R,X,2671,RX,R2671X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7217,Q9UM54,R,X,1143,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.08,,,,,,,,,96596,2494,ENSG00000196586,ENST00000369985,,MYO6,0.91,,,,,10.4163,43,Q9UM54_R1143X,R,X,1143,RX,R1143X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000308139,0,0.0105082,0.977351
7263,P24043,L,P,2564,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,30,1766,ENSG00000196569,ENST00000421865,CCDS5138.1,LAMA2,0.82,probably_damaging,0.999,deleterious,0,3.37497,17.38,P24043_L2564P,L,P,2564,LP,L2564P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,,,,,,,,,,,,0.755898
7265,P24043,R,X,3085,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.03,,,,,,,,,633034,339,ENSG00000196569,ENST00000421865,CCDS5138.1,LAMA2,0.99,,,,,13.8038,47,P24043_R3085X,R,X,3085,RX,R3085X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7365,Q02643,L,H,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,0.001,,,,0.001,203,2956,ENSG00000106128,ENST00000409904,,GHRHR,0.22,probably_damaging,1,deleterious,0,5.50927,35,Q02643_L80H,L,H,80,LH,L80H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,,,,,,,,,,,,0.0029358,0,0.100117,0.963962
7444,P08236,W,X,456,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.05,,,,,,,,,46,3533,ENSG00000169919,ENST00000345660,,GUSB,0.76,,,,,7.27961,38,P08236_W456X,W,X,456,WX,W456X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00196171,0,0.0668985,0.940107
7708,P35523,F,C,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,0,0,0,,,,,,16364,19594,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.42,probably_damaging,0.999,deleterious,0,3.93497,20.1,P35523_F413C,F,C,413,FC,F413C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.366,-4.702,3.336,,,,,,0.447,,41.7,0.000851374,0,0.0290336,0.806859
7713,P35523,A,V,531,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.08,,,,0.001,,0.003,,,25812,10146,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.54,probably_damaging,1,deleterious,0,5.6336,36,P35523_A531V,A,V,531,AV,A531V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.088,-2.856,1.768,,,,,,,,,0.000529724,0,0.0180647,0.910917
7904,Q8TB36,L,F,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,0,0,0,,,,,,1054,25,ENSG00000104381,ENST00000434412,CCDS47877.1,GDAP1,0.59,probably_damaging,1,deleterious,0,4.80641,27.2,Q8TB36_L171F,L,F,171,LF,L171F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.208,-3.353,2.145,,,,,,,,,0.00204324,0,0.0696786,0.852327
7905,Q8TB36,C,Y,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,1058,21,ENSG00000104381,ENST00000434412,CCDS47877.1,GDAP1,0.59,probably_damaging,0.995,deleterious,0,4.42338,23.5,Q8TB36_C172Y,C,Y,172,CY,C172Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00200795,0,0.0684753,0.949929
7969,Q9UHF7,T,P,905,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.08,,,,,,,,,73808,3984,ENSG00000104447,ENST00000520276,,TRPS1,0.7,probably_damaging,0.998,deleterious,0,3.69198,18.76,Q9UHF7_T905P,T,P,905,TP,T905P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,,,,0.953923
8054,P55072,A,E,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0,,,,,,,,,8383,80,ENSG00000165280,ENST00000358901,CCDS6573.1,VCP,0.29,benign,0.054,tolerated,0.06,4.48351,24,P55072_A232E,A,E,232,AE,A232E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.556,-3.043,1.487,0.922,H,a,1.04,0.51,,,,0.00101113,0,0.0344818,0.926095
8071,P20594,R,X,388,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.01,,,,,,,,,8018,9306,ENSG00000159899,ENST00000342694,CCDS6590.1,NPR2,0.37,,,,,6.98484,38,P20594_R388X,R,X,388,RX,R388X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00069181,0,0.0235921,0.977351
8136,Q9Y617,D,A,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,0,0,0,,,,,,7699,24613,ENSG00000135069,ENST00000376588,CCDS6660.1,PSAT1,0.27,probably_damaging,0.996,deleterious,0.02,4.66833,25.7,Q9Y617_D100A,D,A,100,DA,D100A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-1.139,-3.038,1.899,,E,B,0.75,-0.72,,,,0.00219262,0,0.074773,0.656963
8145,Q01974,R,C,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.08,,,,,,,,,149737,14861,ENSG00000169071,ENST00000375715,,ROR2,0.06,probably_damaging,0.99,deleterious,0,2.67486,14.9,Q01974_R44C,R,C,44,RC,R44C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000359008,0,0.0122429,0.954625
8217,O75072,A,E,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,29234,42,ENSG00000106692,ENST00000540160,,FKTN,0.63,possibly_damaging,0.703,deleterious,0.03,4.34117,22.8,O75072_A170E,A,E,170,AE,A170E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.828,-3.801,1.973,,,,,,3.796,,93.49,0.00218684,0,0.0745759,0.882874
8257,P61764,R,X,388,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.04,,,,,,,,,5902,16862,ENSG00000136854,ENST00000373302,CCDS6874.1,STXBP1,0.64,,,,,7.03271,38,P61764_R388X,R,X,388,RX,R388X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00180063,0,0.061405,0.948631
8286,P00966,R,W,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.08,,,,,,,,,9548,1,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.74,benign,0.403,deleterious,0.03,3.45394,17.7,P00966_R304W,R,W,304,RW,R304W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.657,-5.099,3.442,0.774,H,A,1.67,-1.35,0.347,,74.27,0.00330145,0,0.112586,0.58452
8429,P51812,Q,X,659,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.01,,,,,,,,,16721,703,ENSG00000177189,ENST00000379548,,RPS6KA3,0.93,,,,,5.50006,35,P51812_Q659X,Q,X,659,QX,Q659X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00386369,0,0.13176,0.955443
8487,P11532,H,R,2921,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,0.021,0.004,0.03,0.01,,0.02,0.003,0.02,30201,39,ENSG00000198947,ENST00000357033,CCDS14233.1,DMD,0.79,benign,0,tolerated,0.64,-0.002762,4,P11532_H2921R,H,R,2921,HR,H2921R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-2.246,-2.119,-0.127,,,,,,31.323,31.323,91.04,,,,1.00714
8537,Q92834,P,S,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,16733,26281,ENSG00000156313,ENST00000318842,CCDS14246.1,RPGR,0.29,probably_damaging,0.999,deleterious,0,4.36246,23,Q92834_P235S,P,S,235,PS,P235S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.879,-3.261,2.382,,,,,,,,,0.000233506,0,0.00796304,0.828199
8701,P00480,W,X,193,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.08,,,,,,,,,2292,13,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.55,,,,,6.17151,37,P00480_W193X,W,X,193,WX,W193X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00524972,0,0.179026,0.909605
8708,P00480,N,I,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,,,,,,,,,2307,3,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.56,probably_damaging,1,deleterious,0,5.02007,29.6,P00480_N198I,N,I,198,NI,N198I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.017,-4.17,3.153,0.062,S,b,1.09,-0.41,2.199,,58.76,0.00176891,0,0.0603235,0.534477
8709,P00480,N,K,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,,,,,,,,,2308,4,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.56,probably_damaging,1,deleterious,0,4.01919,20.6,P00480_N198K,N,K,198,NK,N198K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.017,-2.956,1.939,0.062,S,b,1.73,-0.41,16.28,16.28,58.76,0.00176891,0,0.0603235,0.639154
8710,P00480,N,D,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.07,,,,,,,,,2309,5,ENSG00000036473,ENST00000039007,CCDS14247.1,OTC,0.56,probably_damaging,1,deleterious,0,5.25679,33,P00480_N199D,N,D,199,ND,N199D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-0.704,-3.182,2.478,0.062,H,A,0.14,-0.58,1.937,,39.55,0.000592583,0,0.0202083,0.664845
8980,P10275,S,N,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,,,,,,,,,142570,12478,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.3,benign,0.004,tolerated,0.31,0.651789,7.497,P10275_S116N,S,N,116,SN,S116N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,0.00100098,0,0.0341354,0.928016
8982,P10275,H,P,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,142696,12352,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.41,probably_damaging,0.982,deleterious,0,4.04098,20.7,P10275_H158P,H,P,158,HP,H158P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,,,,,,,,,,,,0.000624895,0,0.0213102,0.989935
9015,P98172,T,I,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,9823,3328,ENSG00000090776,ENST00000204961,CCDS14391.1,EFNB1,0.32,probably_damaging,1,deleterious,0,4.64271,25.5,P98172_T111I,T,I,111,TI,T111I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.149,-3.337,2.188,,,,,,,,,,,,0.785835
9043,P31785,C,X,18,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.01,,,,,,,,,469,383,ENSG00000147168,ENST00000464642,,IL2RG,0.08,,,,,5.23835,33,P31785_C18X,C,X,18,CX,C18X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00038587,0,0.013159,0.980504
9148,Q06187,R,Q,520,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,,,,,,,,,746,453,ENSG00000010671,ENST00000308731,CCDS14482.1,BTK,0.79,probably_damaging,0.988,deleterious,0,4.98499,29.2,Q06187_R520Q,R,Q,520,RQ,R520Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.628,S,l,0.56,-0.72,,,,0.000194557,0,0.00663478,0.837064
9149,Q06187,R,X,520,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.01,,,,,,,,,745,452,ENSG00000010671,ENST00000308731,CCDS14482.1,BTK,0.79,,,,,7.22778,38,Q06187_R520X,R,X,520,RX,R520X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000194557,0,0.00663478,0.977351
9216,P60201,D,H,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,,,,,,,,,152,19,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.69,probably_damaging,0.997,deleterious,0,3.6578,18.59,P60201_D168H,D,H,168,DH,D168H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,,,,,,,,,,,,0.00554698,0,0.189164,0.948949
9224,P05543,H,Y,351,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,1584,10,ENSG00000123561,ENST00000327674,CCDS14518.1,SERPINA7,0.85,probably_damaging,0.989,deleterious,0,4.39172,23.2,P05543_H351Y,H,Y,351,HY,H351Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.086,-3.137,2.051,,E,B,0.38,0.26,,,,0.00312488,0,0.106565,0.729416
9330,P29400,G,R,609,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.01,,,,,,,,,16255,28523,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.36,,,deleterious,0,4.10946,21.2,P29400_G609R,G,R,609,GR,G609R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.000136243,0,0.00464618,0.790148
9341,P29400,,,,Transcript,INTRONIC,2,intron,pathogenic,0.51,0.01,,,,,,,,,19375,25403,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,,,,,,1.80855,12.01,P29400_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
9395,P29400,K,X,1097,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.51,0.03,,,,,,,,,215491,42169,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.65,,,,,10.6445,44,P29400_K1097X,K,X,1097,KX,K1097X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,1.81e-05,0,0.000616113,0.989951
9426,P29400,G,S,1454,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.05,,,,,,,,,5649,26,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.86,probably_damaging,0.994,deleterious,0.01,5.41693,35,P29400_G1454S,G,S,1454,GS,G1454S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.851,-2.658,0.807,,,,,,2.362,2.362,11.16,0.00170359,0.004329,0.0580959,0.841734
9461,O43602,R,L,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.11,,,,,,,,,727,163,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.16,probably_damaging,0.963,deleterious,0,4.98305,29.2,O43602_R59L,R,L,59,RL,R59L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00018157,0,0.00619192,0.980977
9562,P29965,T,M,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,,,,,,,,,11163,1001,ENSG00000102245,ENST00000370629,CCDS14659.1,CD40LG,0.97,probably_damaging,1,deleterious,0,3.94702,20.2,P29965_T254M,T,M,254,TM,T254M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.24,-4.686,3.446,0.029,S,B,0.77,-0.74,1.158,,77.39,0.0108313,0,0.369369,0.601547
9643,P22304,P,Q,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.03,,,,,,,,,135,56,ENSG00000010404,ENST00000370443,,IDS,0.73,probably_damaging,0.938,deleterious,0.02,4.47203,23.9,P22304_P228Q,P,Q,228,PQ,P228Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-0.966,-3.716,2.75,,,,,,,,,0.000494985,0,0.01688,0.818077
9644,P22304,T,M,214,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.51,0.04,0.017,0.048,0,0.01,,0.004,0.06,,93,14,ENSG00000010404,ENST00000370443,,IDS,0.69,possibly_damaging,0.774,tolerated,0.1,2.35855,13.84,P22304_T214M,T,M,214,TM,T214M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.083,-2.997,0.914,,,,,,9.63,9.63,84,0.00368206,0,0.125566,0.982424
65,Q96SN8,G,R,261,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.04,,,,,,,,,4873,13860,ENSG00000136861,ENST00000416449,,CDK5RAP2,0.2,benign,0.042,deleterious,0,1.35373,10.45,Q96SN8_G261R,G,R,261,GR,G261R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.938,-3.01,1.072,,,,,,26.135,26.135,13.15,,,,0.86109
72,Q96SN8,V,L,934,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.03,0.696,0.584,0.753,0.76,0.84,0.84,0.6,0.76,39618,2309,ENSG00000136861,ENST00000416449,,CDK5RAP2,0.73,benign,0.034,tolerated,0.57,0.382491,6.077,Q96SN8_V934L,V,L,934,VL,V934L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,,,,0.956188
88,Q92851,Y,C,379,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.03,0.027,0.007,0.037,0.02,,0.03,,0.05,23706,8258,ENSG00000003400,ENST00000313728,CCDS56159.1,CASP10,0.83,benign,0.402,tolerated,0.14,1.4138,10.66,Q92851_Y379C,Y,C,379,YC,Y379C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
92,Q92481,S,A,258,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.09,,,,,,,,,17505,7508,ENSG00000008196,ENST00000393655,CCDS4934.2,TFAP2B,0.56,benign,0.095,deleterious,0.03,2.36745,13.87,Q92481_S258A,S,A,258,SA,S258A,Polar,Hydrophobic,5.68,6,0.32,105,89,-16,89,88.6,-0.4,99,-1.377,-2.464,1.087,,,,,,17.065,17.065,84.57,0.00114736,0,0.0453757,0.970621
131,Q16570,G,D,42,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.01,0.692,0.916,0.578,0.54,0.08,0.58,0.96,0.59,153,335,ENSG00000213088,ENST00000537147,CCDS1183.1,DARC,0.12,benign,0,tolerated,1,-1.07485,0.168,Q16570_G42D,G,D,42,GD,G42D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-3.284,-1.73,-1.554,,,,,,37.429,37.429,94.35,0.00517626,0,0.20471,1.01503
176,P54098,Q,H,1236,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.05,0.06,0.018,0.081,0.04,,0.06,0.01,0.08,1066,246,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,1,benign,0.009,tolerated,0.06,2.35359,13.83,P54098_Q1236H,Q,H,1236,QH,Q1236H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-2.319,-3.326,1.007,,,,,,20.059,20.059,23.41,0.0941951,0.666667,3.72521,0.90358
181,P51681,A,V,335,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.07,0.012,0.035,0,0.01,,0.01,0.04,,1236,56,ENSG00000160791,ENST00000292303,CCDS2739.1,CCR5,0.95,benign,0.001,tolerated,0.54,1.57702,11.23,P51681_A335V,A,V,335,AV,A335V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-2.081,-2.308,0.227,,,,,,23.405,23.405,89.2,0.0181324,0,0.717098,0.985195
198,P36959,F,I,256,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.09,0.537,0.822,0.391,0.65,0.88,0.54,0.85,0.39,585,4592,ENSG00000137198,ENST00000259727,CCDS4537.1,GMPR,0.74,benign,0,tolerated,1,-0.274157,2.686,P36959_F256I,F,I,256,FI,F256I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,-2.931,-1.65,-1.281,,,,,,25.5,25.5,93.91,0.00294006,0,0.116273,1.01004
235,P21817,E,K,512,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.03,,,,,,,,,21628,132237,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.1,possibly_damaging,0.526,,,2.9852,15.95,P21817_E512K,E,K,512,EK,E512K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.983,-3.501,1.518,,,,,,2.55,,27.09,,,,0.855913
284,P16070,R,G,46,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.08,0,0,0,,,,,,2,495,ENSG00000026508,ENST00000449691,,CD44,0.07,possibly_damaging,0.897,deleterious,0,3.31242,17.14,P16070_R46G,R,G,46,RG,R46G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-2.032,-3.689,1.657,0.658,H,A,0.91,0,4.659,,12.26,0.000984599,0,0.0389388,0.856408
307,P05106,P,A,386,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.04,,,,0.001,,,,0.001,1122,4,ENSG00000259207,ENST00000435993,,ITGB3,0.51,probably_damaging,0.997,deleterious,0,4.62542,25.3,P05106_P386A,P,A,386,PA,P386A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,,,,,,,,,,,,0.000921815,0,0.0364558,1.00322
308,P05106,R,Q,122,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.04,0,0,0,0.004,0.004,0.02,,,30690,6901,ENSG00000259207,ENST00000435993,,ITGB3,0.16,possibly_damaging,0.486,tolerated,0.2,2.22894,13.41,P05106_R122Q,R,Q,122,RQ,R122Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000880999,0,0.0348416,0.995654
392,O60260,S,N,167,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.52,0.03,0.039,0.078,0.019,0.14,0.37,0.12,0.08,0.02,526504,656053,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.38,benign,0.012,tolerated,0.16,1.66773,11.54,O60260_S167N,S,N,167,SN,S167N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-2.032,-2.781,0.749,,,,,,28.13,28.13,88.82,0.00213709,0,0.0845172,1.00082
17,Q99497,E,K,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,19620,82,ENSG00000116288,ENST00000377488,CCDS93.1,PARK7,0.86,benign,0.05,tolerated,0.13,3.50242,17.9,Q99497_E163K,E,K,163,EK,E163K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,0.385,H,A,1.3,-0.45,,,,0.00963009,0,0.328406,0.78344
18,Q99497,L,P,166,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,19630,72,ENSG00000116288,ENST00000377488,CCDS93.1,PARK7,0.88,probably_damaging,1,deleterious,0,2.66781,14.88,Q99497_L166P,L,P,166,LP,L166P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,0.146,H,A,1.07,-0.71,,,,0.00764574,0,0.260735,0.538114
27,Q13148,M,V,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,216,519,ENSG00000120948,ENST00000439080,,TARDBP,0.65,benign,0.001,tolerated,0.52,1.2407,10.04,Q13148_M195V,M,V,195,MV,M195V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,0.00201129,0,0.0685891,0.974394
31,Q13148,N,S,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,340,395,ENSG00000120948,ENST00000439080,,TARDBP,0.79,benign,0.006,tolerated,0.24,0.414274,6.25,Q13148_N236S,N,S,236,NS,N236S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00111932,0,0.0381713,0.924471
48,Q9Y5Z9,T,I,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,121,14380,ENSG00000120942,ENST00000376804,,UBIAD1,0.98,probably_damaging,0.999,deleterious,0,4.80108,27.1,Q9Y5Z9_T175I,T,I,175,TI,T175I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.245,-3.296,2.051,,,,,,,,,0.00429298,0,0.1464,0.81815
58,O95140,V,F,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,10592,57,ENSG00000116688,ENST00000412236,,MFN2,0.7,benign,0.279,deleterious,0,3.81839,19.39,O95140_V69F,V,F,69,VF,V69F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.465,-3.524,2.059,,,,,,,,,,,,0.810235
66,O95140,R,W,707,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,0,0,0.001,0.001,,,,0.001,2589,3571,ENSG00000116688,ENST00000235329,CCDS30587.1,MFN2,0.93,probably_damaging,0.978,deleterious,0.01,3.90066,19.83,O95140_R707W,R,W,707,RW,R707W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,,,,,,,,,,,,0.766123
222,Q9NR50,I,T,346,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,12,1107,ENSG00000070785,ENST00000360403,CCDS517.1,EIF2B3,0.77,benign,0.294,tolerated,0.09,2.9306,15.77,Q9NR50_I346T,I,T,346,IT,I346T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.436,-3.157,1.721,,,,,,,,,0.00354735,0,0.120972,0.88755
245,Q8WZA1,R,Q,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,73,490,ENSG00000085998,ENST00000371992,,POMGNT1,0.42,probably_damaging,0.996,deleterious,0,5.06839,31,Q8WZA1_R311Q,R,Q,311,RQ,R311Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,,,,,,,,,0.000614997,0,0.0209727,0.92011
251,P23786,E,K,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,3582,263,ENSG00000157184,ENST00000371486,CCDS575.1,CPT2,0.26,probably_damaging,0.984,deleterious,0.01,5.11965,32,P23786_E174K,E,K,174,EK,E174K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,0.209,.,B,1.3,0.47,,,,0.0018926,0,0.0645417,0.821684
254,P23786,E,X,454,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,2742,578,ENSG00000157184,ENST00000371486,CCDS575.1,CPT2,0.69,,,,,8.94009,41,P23786_E454X,E,X,454,EX,E454X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00237975,0,0.0811543,0.961863
359,P26439,R,X,249,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,0,0,0,,,,,,4833,158,ENSG00000203859,ENST00000543831,CCDS902.1,HSD3B2,0.67,,,,,4.5271,24.4,P26439_R249X,R,X,249,RX,R249X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00401479,0,0.136913,0.951177
361,P26439,P,L,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,5110,435,ENSG00000203859,ENST00000543831,CCDS902.1,HSD3B2,0.92,probably_damaging,0.988,deleterious,0,4.01329,20.6,P26439_P341L,P,L,341,PL,P341L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.021,-3.396,2.375,,,,,,1.568,,26.34,0.00237104,0,0.0808572,0.829109
370,P54868,V,M,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,56,9083,ENSG00000134240,ENST00000544913,CCDS53353.1,HMGCS2,0.12,probably_damaging,0.996,deleterious,0,3.81886,19.39,P54868_V54M,V,M,54,VM,V54M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.201,-3.807,2.606,0.025,.,B,0.11,-0.58,,,,0.00225154,0,0.0767823,0.662944
375,Q6ZVN8,I,T,281,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,3218,1047,ENSG00000168509,ENST00000336751,CCDS910.1,HFE2,0.66,probably_damaging,0.967,deleterious,0,4.28865,22.4,Q6ZVN8_I281T,I,T,281,IT,I281T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.212,-3.239,2.027,,,,,,,,,0.00254343,0,0.0867363,0.834499
392,Q6UY14,Y,X,595,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.03,0,0,0,,,,,,1500,1775,ENSG00000143382,ENST00000271643,CCDS955.1,ADAMTSL4,0.55,,,,,7.19818,38,Q6UY14_Y595X,Y,X,595,YX,Y595X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
454,P02549,A,D,970,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,0.036,0.007,0.05,0.02,,0.04,,0.03,31918,44132,ENSG00000163554,ENST00000368147,,SPTA1,0.4,benign,0.135,tolerated,0.43,1.48308,10.91,P02549_A970D,A,D,970,AD,A970D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.874,-2.91,1.036,,,,,,22.435,22.435,90.74,0.000229755,0,0.00783513,0.969082
469,P78508,C,R,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,181,1644,ENSG00000177807,ENST00000368089,CCDS1193.1,KCNJ10,0.37,probably_damaging,1,deleterious,0,3.42979,17.6,P78508_C140R,C,R,140,CR,C140R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,,,,,,,,,0.00105119,0,0.0358476,0.720769
489,P50336,R,C,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,62,56,ENSG00000143224,ENST00000367999,CCDS1221.1,PPOX,0.35,possibly_damaging,0.599,tolerated,0.38,3.0044,16.02,P50336_R168C,R,C,168,RC,R168C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.064,H,A,1.66,-0.88,,,,0.00225789,0,0.0769987,0.494328
497,P25189,Y,S,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,178,853,ENSG00000158887,ENST00000360451,,MPZ,0.6,benign,0.057,tolerated,0.05,2.61999,14.72,P25189_Y155S,Y,S,155,YS,Y155S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,,,,,,,,,,,,0.00454136,0,0.15487,0.912556
502,P25189,G,S,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,111,920,ENSG00000158887,ENST00000360451,,MPZ,0.52,probably_damaging,0.966,deleterious,0,5.40953,34,P25189_G133S,G,S,133,GS,G133S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00127899,0,0.0436161,0.91555
504,P25189,G,E,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,52,979,ENSG00000158887,ENST00000360451,,MPZ,0.44,probably_damaging,0.973,deleterious,0,4.63863,25.4,P25189_G113E,G,E,113,GE,G113E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00287873,0,0.0981706,0.949036
507,P25189,R,C,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,36,995,ENSG00000158887,ENST00000360451,,MPZ,0.42,probably_damaging,0.999,deleterious,0,3.79452,19.27,P25189_R108C,R,C,108,RC,R108C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.0030849,0,0.105201,0.929023
508,P25189,E,V,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,34,997,ENSG00000158887,ENST00000360451,,MPZ,0.41,benign,0.045,deleterious,0.01,3.41671,17.55,P25189_E107V,E,V,107,EV,E107V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,,,,,,,,,,,,0.00291465,0,0.0993957,0.957981
522,Q16832,R,C,752,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,143871,4081,ENSG00000162733,ENST00000367921,CCDS1241.1,DDR2,0.88,probably_damaging,0.984,deleterious,0,4.98167,29.2,Q16832_R752C,R,C,752,RC,R752C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.000645107,0,0.0219995,0.776892
558,Q99972,G,V,399,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,16428,827,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.79,probably_damaging,1,deleterious,0,4.01405,20.6,Q99972_G399V,G,V,399,GV,G399V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.763,-3.609,2.846,,,,,,,,,0.00137097,0,0.0467529,0.708582
559,Q99972,P,L,370,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,16341,914,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.73,probably_damaging,1,deleterious,0.02,3.25655,16.92,Q99972_P370L,P,L,370,PL,P370L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.066,-2.218,1.152,,,,,,19.297,19.297,51.39,0.00142929,0,0.0487417,0.94151
562,Q99972,G,V,364,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,16323,932,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.72,probably_damaging,1,deleterious,0,3.55324,18.12,Q99972_G364V,G,V,364,GV,G364V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.763,-3.609,2.846,,,,,,,,,0.00152063,0,0.0518567,0.708582
563,Q99972,Q,R,337,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,16242,1013,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.67,benign,0.386,tolerated,0.07,1.96837,12.54,Q99972_Q337R,Q,R,337,QR,Q337R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.284,-3.267,1.983,,,,,,0.853,,34.33,0.00157527,0,0.05372,0.853975
588,P01008,S,P,381,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,5102,167,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.82,possibly_damaging,0.507,deleterious,0,1.98278,12.59,P01008_S381P,S,P,381,SP,S381P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.634,-3.543,1.909,0.048,.,B,0.25,-0.18,2.599,,89.44,0.00235818,0,0.0804188,0.819079
595,P01008,L,F,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,96,2590,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.28,probably_damaging,0.999,deleterious,0.04,4.75348,26.6,P01008_L131F,L,F,131,LF,L131F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.039,-3.434,2.395,0.015,H,A,0.03,-0.52,,,,0.00272412,0,0.0928983,0.691851
671,P82279,V,M,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,0.001,0,0.001,0.002,,0.01,,0.004,60422,29294,ENSG00000134376,ENST00000367399,CCDS53454.1,CRB1,0.13,benign,0.002,tolerated,0.2,0.295416,5.6,P82279_V162M,V,M,162,VM,V162M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.478,-2.313,0.835,,,,,,14.861,14.861,91.75,,,,0.95653
786,Q92736,R,S,2458,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,378026,184236,ENSG00000198626,ENST00000542537,,RYR2,0.5,probably_damaging,0.999,deleterious,0,3.805,19.32,Q92736_R2458S,R,S,2458,RS,R2458S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,,,,,,,,,,,,,,,0.912913
788,Q92736,Q,R,4185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.12,,,,,,,,,96861,3687,ENSG00000198626,ENST00000542537,,RYR2,0.85,probably_damaging,0.997,deleterious,0,4.47919,24,Q92736_Q4185R,Q,R,4185,QR,Q4185R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,,,,0.956783
1002,P51160,R,W,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,222,53201,ENSG00000095464,ENST00000371447,CCDS7429.1,PDE6C,0.03,possibly_damaging,0.77,deleterious,0,3.18344,16.65,P51160_R29W,R,W,29,RW,R29W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.634,-5.163,3.529,,,,,,0.593,,89.51,0.000591,0,0.0201543,0.858085
1025,Q7KZN9,R,W,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,0,0,0,,,,,,8044,101,ENSG00000014919,ENST00000370483,CCDS7481.1,COX15,0.56,probably_damaging,1,deleterious,0,4.40658,23.4,Q7KZN9_R217W,R,W,217,RW,R217W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.00351626,0,0.119912,0.778143
1026,Q92887,R,H,1150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,53393,16068,ENSG00000023839,ENST00000370449,CCDS7484.1,ABCC2,0.74,probably_damaging,0.999,deleterious,0,5.57974,35,Q92887_R1150H,R,H,1150,RH,R1150H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.237,-4.239,3.002,,,,,,0.704,,75.66,,,,0.828423
1111,P04181,Y,C,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,499,11,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.36,possibly_damaging,0.876,tolerated,0.09,3.21625,16.77,P04181_Y107C,Y,C,107,YC,Y107C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00470201,0,0.160348,0.911974
1112,P04181,P,L,103,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,0,0,0,,,,,,511,2,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.34,probably_damaging,0.945,deleterious,0.02,4.02705,20.7,P04181_P103L,P,L,103,PL,P103L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00426059,0,0.145295,0.949925
1214,P68871,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.52,0.03,0,0,0,0.001,,0.003,,,106,309,ENSG00000244734,ENST00000335295,CCDS7753.1,HBB,,,,,,4.16192,21.5,P68871_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1216,P68871,W,X,16,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.03,,,,,,,,,99,354,ENSG00000244734,ENST00000335295,CCDS7753.1,HBB,0.11,,,,,4.78439,26.9,P68871_W16X,W,X,16,WX,W16X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00211554,0,0.0721444,0.940107
1217,P68871,W,X,16,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.03,,,,,,,,,98,355,ENSG00000244734,ENST00000335295,CCDS7753.1,HBB,0.11,,,,,4.77183,26.8,P68871_W16X,W,X,16,WX,W16X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00211554,0,0.0721444,0.940107
1218,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.52,0,,,,,,,,,2,451,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,1.2702,10.15,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1228,P02042,W,X,38,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0,,,,,,,,,291,200,ENSG00000223609,ENST00000292901,,HBD,0.27,,,,,4.44771,23.7,P02042_W38X,W,X,38,WX,W38X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00134114,0,0.0457358,0.881419
1243,P17405,N,S,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,16,851,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.61,probably_damaging,0.993,deleterious,0,4.68752,25.9,P17405_N384S,N,S,384,NS,N384S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00292628,0,0.0997922,0.967056
1245,P17405,H,Y,422,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,102,509,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.67,possibly_damaging,0.611,deleterious,0.04,4.38432,23.2,P17405_H422Y,H,Y,422,HY,H422Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.00263199,0,0.0897563,0.966735
1249,O14773,C,Y,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,0,0,0,,,,,,49,368,ENSG00000166340,ENST00000533371,,TPP1,0.38,probably_damaging,0.995,deleterious,0,3.91863,19.93,O14773_C122Y,C,Y,122,CY,C122Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.293,-3.939,2.646,,E,B,0.25,0.77,,,,0.00393492,0,0.134189,0.66749
1250,O14773,C,R,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,48,367,ENSG00000166340,ENST00000533371,,TPP1,0.38,probably_damaging,0.995,deleterious,0,3.68109,18.7,O14773_C122R,C,R,122,CR,C122R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,,E,B,1.66,0.77,,,,0.00393492,0,0.134189,0.592627
1255,Q86WG5,R,X,1196,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.08,,,,,,,,,7314,23378,ENSG00000133812,ENST00000256190,CCDS31427.1,SBF2,0.65,,,,,11.3096,45,Q86WG5_R1196X,R,X,1196,RX,R1196X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1301,P0DJI8,G,D,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,0.01,0.03,,,,3491,213,ENSG00000173432,ENST00000356524,CCDS7835.1,SAA1,0.74,possibly_damaging,0.887,deleterious,0.03,3.10568,16.38,P0DJI8_G90D,G,D,90,GD,G90D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.014328,0,0.488614,0.947105
1327,P26367,F,S,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,332,121,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.61,probably_damaging,0.968,deleterious,0,4.94962,28.8,P26367_F258S,F,S,258,FS,F258S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.524,-3.292,1.768,,,,,,,,,0.00263869,0,0.0899848,0.849024
1328,P26367,W,X,257,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,330,123,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.61,,,,,8.21824,40,P26367_W257X,W,X,257,WX,W257X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00232368,0,0.0792424,0.940601
1400,P00734,G,V,562,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,20110,160,ENSG00000180210,ENST00000530231,,F2,0.96,probably_damaging,1,deleterious,0,4.99907,29.4,P00734_G562V,G,V,562,GV,G562V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.000923512,0,0.0314936,0.973283
1401,Q92466,K,E,180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,19842,4433,ENSG00000134574,ENST00000378603,,DDB2,0.5,probably_damaging,0.997,deleterious,0,5.11839,32,Q92466_K180E,K,E,180,KE,K180E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,,,,0.952592
1467,P11217,K,T,543,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,49,916,ENSG00000068976,ENST00000164139,CCDS8079.1,PYGM,0.64,probably_damaging,1,deleterious,0,4.73571,26.4,P11217_K543T,K,T,543,KT,K543T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.416,-3.103,1.687,0.01,H,A,2.12,-0.27,,,,0.000356379,0,0.0121533,0.642027
1573,P50416,T,I,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,5928,7597,ENSG00000110090,ENST00000538994,,CPT1A,0.85,probably_damaging,0.96,deleterious,0,3.36591,17.34,P50416_T66I,T,I,66,TI,T66I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00107231,0,0.036568,0.921072
1584,P38935,V,I,580,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,1073,931,ENSG00000132740,ENST00000255078,CCDS8187.1,IGHMBP2,0.58,probably_damaging,0.996,deleterious,0,5.05902,31,P38935_V580I,V,I,580,VI,V580I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.039,-2.516,1.477,,,,,,,,,,,,0.868424
1656,Q9ULV1,C,R,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,3246,410,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.38,probably_damaging,1,deleterious,0,3.72196,18.9,Q9ULV1_C204R,C,R,204,CR,C204R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.602,-3.573,1.971,,,,,,3.364,,46.37,0.000765639,0,0.0261099,0.867382
1658,Q9ULV1,P,S,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,0.015,0.009,0.018,0.01,,0.02,0.01,0.01,3138,518,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.31,benign,0.044,tolerated,0.09,2.89785,15.66,Q9ULV1_P168S,P,S,168,PS,P168S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.341,-3.023,1.682,,,,,,4.283,,46.37,0.00197581,0,0.0673793,0.943819
1665,P53634,W,C,429,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,5645,323,ENSG00000109861,ENST00000227266,CCDS8282.1,CTSC,0.93,probably_damaging,0.999,deleterious,0,4.29569,22.5,P53634_W429C,W,C,429,WC,W429C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.036,-4.718,3.682,0.333,B,a,0.01,-0.09,,,,0.00278436,0,0.0949523,0.690236
1666,P53634,Y,C,412,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,5593,375,ENSG00000109861,ENST00000227266,CCDS8282.1,CTSC,0.89,probably_damaging,0.998,deleterious,0,3.57813,18.23,P53634_Y412C,Y,C,412,YC,Y412C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.023,-4.718,3.695,0.011,E,B,0.25,0.22,,,,0.00537114,0,0.183167,0.617926
1679,P14679,C,R,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,325,22394,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.17,probably_damaging,0.999,deleterious,0,4.22816,22,P14679_C89R,C,R,89,CR,C89R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-0.769,-4.237,3.468,,,,,,,,,0.000341972,0,0.011662,0.784995
1680,P14679,C,Y,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,332,22387,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.17,probably_damaging,0.999,deleterious,0,4.57198,24.8,P14679_C91Y,C,Y,91,CY,C91Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-0.769,-4.242,3.473,,,,,,,,,0.000304976,0,0.0104003,0.786747
1753,O14521,W,X,43,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,935,7231,ENSG00000204370,ENST00000528182,,SDHD,0.33,,,,,3.20776,16.74,O14521_W43X,W,X,43,WX,W43X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00694595,0.0172414,0.236871,0.895352
1794,Q13651,G,R,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,236,117,ENSG00000110324,ENST00000227752,CCDS8388.1,IL10RA,0.24,probably_damaging,1,tolerated,0.08,3.56472,18.17,Q13651_G141R,G,R,141,GR,G141R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.964,-3.923,2.959,0.023,E,B,0.91,-0.73,0.99,,45.67,0.00123597,0,0.0421491,0.516481
1795,Q8IWT1,L,F,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,600,59,ENSG00000177098,ENST00000324727,CCDS8389.1,SCN4B,0.79,benign,0.001,tolerated,0.23,-0.095894,3.53,Q8IWT1_L179F,L,F,179,LF,L179F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.802,-2.238,0.436,,,,,,33.305,33.305,86.4,0.00970053,0,0.330808,0.978091
1851,Q96MS0,R,W,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,1567,11432,ENSG00000154134,ENST00000538940,,ROBO3,0.16,probably_damaging,0.999,deleterious,0,3.4668,17.75,Q96MS0_R223W,R,W,223,RW,R223W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000400011,0,0.0136412,0.987856
1897,Q09470,E,D,325,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,1976,5895,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.66,benign,0.272,deleterious,0.05,2.23366,13.43,Q09470_E325D,E,D,325,ED,E325D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.255,-2.529,1.274,0.299,H,A,0.29,-0.38,,,,0.000703268,0,0.0239829,0.844412
1898,Q09470,V,I,404,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,2211,5660,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.82,possibly_damaging,0.867,deleterious,0,4.46065,23.8,Q09470_V404I,V,I,404,VI,V404I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.304,-2.396,1.092,0.592,H,A,0.04,-0.29,,,,0.00125691,0,0.0428634,0.88624
1901,Q09470,F,C,414,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,2242,5629,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.84,probably_damaging,0.989,deleterious,0,3.44178,17.65,Q09470_F414C,F,C,414,FC,F414C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.351,-4.598,3.247,0.142,H,A,0.12,0.24,,,,0.00065275,0,0.0222601,0.638643
1920,P04275,R,H,1205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,34,2432,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.43,probably_damaging,0.998,tolerated,0.06,3.04379,16.16,P04275_R1205H,R,H,1205,RH,R1205H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.019,-2.987,0.968,,,,,,19.382,19.382,15.04,0.00014999,0,0.00511498,0.930257
1943,P60174,C,Y,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,404,423,ENSG00000111669,ENST00000396705,CCDS8566.1,TPI1,0.17,possibly_damaging,0.752,deleterious,0,4.73209,26.4,P60174_C42Y,C,Y,42,CY,C42Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00369295,0,0.125937,0.941339
1945,P60174,G,R,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,249,5,ENSG00000111669,ENST00000396705,CCDS8566.1,TPI1,0.49,probably_damaging,0.985,tolerated,0.16,4.38673,23.2,P60174_G123R,G,R,123,GR,G123R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00220184,0,0.0750872,0.954089
1946,P60174,E,X,146,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,180,74,ENSG00000111669,ENST00000396705,CCDS8566.1,TPI1,0.59,,,,,4.75315,26.6,P60174_E146X,E,X,146,EX,E146X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00602602,0,0.2055,0.927758
1950,P09871,R,W,534,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,0,0,0,,,,,,3093,57,ENSG00000182326,ENST00000328916,CCDS31735.1,C1S,0.78,possibly_damaging,0.786,deleterious,0,4.05779,20.8,P09871_R534W,R,W,534,RW,R534W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.837,-5.223,3.386,,,,,,0.623,,93.9,0.00234046,0,0.0798146,0.844631
2057,Q71U36,R,H,387,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,1764,91,ENSG00000167552,ENST00000550767,,TUBA1A,0.93,benign,0.129,,,1.88037,12.25,Q71U36_R387H,R,H,387,RH,R387H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00171384,0,0.0584454,0.936215
2059,Q71U36,S,L,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,1755,100,ENSG00000167552,ENST00000550767,,TUBA1A,0.92,benign,0.018,,,2.17754,13.24,Q71U36_S384L,S,L,384,SL,S384L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00161736,0,0.0551554,0.898686
2062,Q71U36,R,C,229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,1289,27,ENSG00000167552,ENST00000550767,,TUBA1A,0.55,probably_damaging,0.911,,,2.80629,15.35,Q71U36_R229C,R,C,229,RC,R229C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.961,-4.69,2.729,0.274,H,A,1.66,0,,,,0.000443267,0,0.0151163,0.724537
2063,Q71U36,P,T,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,1286,24,ENSG00000167552,ENST00000550767,,TUBA1A,0.55,probably_damaging,0.969,,,2.62637,14.74,Q71U36_P228T,P,T,228,PT,P228T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,0.000454051,0,0.0154841,0.997615
2064,Q71U36,I,L,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,1061,36,ENSG00000167552,ENST00000550767,,TUBA1A,0.37,benign,0.08,,,1.65355,11.49,Q71U36_I153L,I,L,153,IL,I153L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,0.000909172,0,0.0310046,1.0027
2113,P13647,K,N,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,161,27,ENSG00000186081,ENST00000551275,,KRT5,0.94,probably_damaging,0.998,deleterious,0,2.93993,15.8,P13647_K138N,K,N,138,KN,K138N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,,,,,,,,,,,,7.46e-05,0,0.00254408,0.990245
2136,Q9NRG9,L,F,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,1538,357,ENSG00000094914,ENST00000548931,,AAAS,0.75,probably_damaging,0.953,deleterious,0.01,2.97183,15.91,Q9NRG9_L270F,L,F,270,LF,L270F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,0.0020861,0,0.0711402,0.987152
2146,P51687,C,X,99,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,1969,116,ENSG00000139531,ENST00000551841,,SUOX,0.95,,,,,3.9468,20.2,P51687_C99X,C,X,99,CX,C99X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00213517,0,0.0728138,0.962227
2150,Q9UHF0,M,T,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,3676,323,ENSG00000166863,ENST00000415231,CCDS8928.1,TAC3,0.74,benign,0.254,deleterious,0,2.93524,15.78,Q9UHF0_M90T,M,T,90,MT,M90T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.246,-3.296,2.05,,,,,,,,,0.00922808,0,0.314696,0.787463
2158,O15528,T,I,409,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,1888,340,ENSG00000111012,ENST00000228606,CCDS8954.1,CYP27B1,0.81,possibly_damaging,0.879,tolerated,0.12,3.54011,18.06,O15528_T409I,T,I,409,TI,T409I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.334,-3.59,2.256,,,,,,2.648,,87.99,0.0030341,0,0.103469,0.871724
2204,P00439,V,M,388,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,0,0,0,,,,,,8578,32,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.86,probably_damaging,0.99,deleterious,0.01,3.38587,17.42,P00439_V388M,V,M,388,VM,V388M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.376,-3.841,2.465,0.05,E,B,0.11,-0.37,2.386,,64.6,0.0040399,0,0.137769,0.664191
2251,Q9HBA0,R,Q,569,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,22390,8786,ENSG00000111199,ENST00000392719,CCDS53828.1,TRPV4,0.69,probably_damaging,0.999,deleterious,0,5.68895,36,Q9HBA0_R569Q,R,Q,569,RQ,R569Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00154857,0,0.0528095,0.917458
2259,P16615,P,L,493,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,48653,5920,ENSG00000174437,ENST00000548169,,ATP2A2,0.53,probably_damaging,0.983,deleterious,0,4.28857,22.4,P16615_P493L,P,L,493,PL,P493L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.000440736,0,0.01503,0.98481
2261,P16615,G,R,742,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,822,2813,ENSG00000174437,ENST00000395494,,ATP2A2,0.73,probably_damaging,0.995,deleterious,0,4.837,27.5,P16615_G742R,G,R,742,GR,G742R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.000204542,0,0.00697532,0.972859
2265,P10916,E,K,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,0,,,,,93,304,ENSG00000111245,ENST00000548438,,MYL2,0.14,possibly_damaging,0.783,deleterious,0,5.21009,33,P10916_E22K,E,K,22,EK,E22K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.544,-1.822,0.278,,,,,,21.198,21.198,76.51,0.0072409,0,0.24693,0.970597
2336,P29033,S,R,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,538,1771,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.5,benign,0.029,tolerated,0.43,-0.631347,1.205,P29033_S113R,S,R,113,SR,S113R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-2.452,-3.103,0.651,,,,,,22.073,22.073,93.81,0.00614121,0.00884956,0.209428,0.948596
2349,P29033,W,C,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,331,1978,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.19,probably_damaging,1,deleterious,0,4.16207,21.5,P29033_W44C,W,C,44,WC,W44C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-0.749,-4.92,4.171,0.005,I,A,0.01,-0.71,,,,0.0011769,0,0.0401346,0.580475
2350,P29033,W,S,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,330,1979,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.19,probably_damaging,1,deleterious,0,4.37834,23.1,P29033_W44S,W,S,44,WS,W44S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-0.749,-3.894,3.145,0.005,I,A,0.74,-0.71,,,,0.0011769,0,0.0401346,0.516145
2355,P29033,K,T,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,243,2066,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.07,possibly_damaging,0.561,deleterious,0.04,1.84612,12.13,P29033_K15T,K,T,15,KT,K15T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.462,-2.811,1.349,0.244,S,b,2.12,1.97,12.84,12.84,75.22,0.00416453,0,0.142019,0.904577
2356,P29033,G,R,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,233,2076,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.05,possibly_damaging,0.776,deleterious,0.01,3.70036,18.8,P29033_G12R,G,R,12,GR,G12R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.072,-2.766,1.694,0.448,S,b,0.91,1.58,21.617,21.617,62.83,0.0021481,0,0.0732548,0.848976
2357,P29033,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.52,0.05,,,,,,,,,200,2109,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0,possibly_damaging,0.531,deleterious,0,2.41881,14.05,P29033_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-0.923,-2.896,1.973,,,,,,,,,0.00298971,0,0.101955,0.830892
2359,O95452,V,E,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,7608,1400,ENSG00000121742,ENST00000241124,CCDS9291.1,GJB6,0.14,probably_damaging,1,deleterious,0.01,3.2737,16.99,O95452_V37E,V,E,37,VE,V37E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.205,-3.586,2.381,,,,,,0.942,,52.49,0.00380827,0,0.12987,0.85068
2372,Q6Y288,Y,X,366,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.08,,,,,,,,,117663,14678,ENSG00000187676,ENST00000343307,CCDS9341.1,B3GALTL,0.73,,,,,3.77012,19.14,Q6Y288_Y366X,Y,X,366,YX,Y366X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
2456,P05165,M,K,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,8288,124220,ENSG00000175198,ENST00000376286,CCDS45065.1,PCCA,0.49,probably_damaging,1,deleterious,0,4.2905,22.4,P05165_M347K,M,K,347,MK,M347K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,,,,,,,,,,,,,,,0.947097
2481,P02462,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.52,0.03,,,,,,,,,114875,1514,ENSG00000187498,ENST00000397198,,COL4A1,,,,,,4.62412,25.3,P02462_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
2495,P03950,S,N,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,4937,239,ENSG00000214274,ENST00000336811,CCDS9554.1,ANG,0.35,benign,0.022,tolerated,0.21,-0.250888,2.793,P03950_S52N,S,N,52,SN,S52N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.724,-2.551,0.827,0.416,H,A,0.34,-0.21,20.468,20.468,75.51,0.0114637,0,0.390935,0.958574
2504,Q96KN7,R,L,827,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,1313,76,ENSG00000092200,ENST00000400017,CCDS45080.1,RPGRIP1,0.64,probably_damaging,0.911,deleterious,0.01,3.21257,16.76,Q96KN7_R827L,R,L,827,RL,R827L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.598,-3.367,1.769,,,,,,2.55,,67.73,0.00055816,0,0.0190344,0.937093
2506,Q9UM01,R,X,144,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,1429,736,ENSG00000155465,ENST00000554517,,SLC7A7,0.59,,,,,7.285,38,Q9UM01_R144X,R,X,144,RX,R144X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00254964,0,0.086948,0.959768
2514,P12883,E,K,949,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,11735,11246,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.49,probably_damaging,0.994,deleterious,0,5.4436,35,P12883_E949K,E,K,949,EK,E949K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.000143484,0,0.00489311,0.919346
2529,P12883,G,R,584,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,7996,14985,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.3,probably_damaging,0.997,deleterious,0,3.28048,17.01,P12883_G584R,G,R,584,GR,G584R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.276,.,b,0.91,0,,,,6.74e-05,0,0.00229952,0.698762
2531,P12883,F,C,513,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,7179,15802,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.27,probably_damaging,0.983,deleterious,0,4.04523,20.8,P12883_F513C,F,C,513,FC,F513C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.524,-4.544,3.02,0.142,S,A,0.12,0,,,,7.96e-05,0,0.00271373,0.620064
2626,P30793,R,S,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,58424,1027,ENSG00000131979,ENST00000491895,CCDS9720.1,GCH1,1,benign,0.092,deleterious,0.02,3.14693,16.52,P30793_R249S,R,S,249,RS,R249S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.681,-3.231,1.55,0.244,.,a,0.93,0.69,4.885,,91.6,0.0750989,1,2.56103,0.907962
2743,Q9UBX5,E,X,396,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,542,7274,ENSG00000140092,ENST00000556154,,FBLN5,0.87,,,,,9.73839,42,Q9UBX5_E396X,E,X,396,EX,E396X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
2752,Q9UBX5,V,L,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,0,0,0,,,,,,9927,95,ENSG00000140092,ENST00000556154,,FBLN5,0.14,probably_damaging,0.976,deleterious,0.02,4.9946,29.3,Q9UBX5_V65L,V,L,65,VL,V65L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,,,,0.956188
2754,P08185,L,H,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0,0.002,0,0.003,0.001,,,,0.003,9015,65,ENSG00000170099,ENST00000341584,CCDS9924.1,SERPINA6,0.28,benign,0.429,deleterious,0.01,1.89251,12.29,P08185_L115H,L,H,115,LH,L115H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.48,-4.888,3.408,0.642,H,A,0.72,1.17,0.735,,63.7,0.00380177,0,0.129648,0.722659
2785,P68032,E,G,363,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,2394,285,ENSG00000159251,ENST00000290378,CCDS10041.1,ACTC1,0.96,probably_damaging,1,,,3.60156,18.34,P68032_E363G,E,G,363,EG,E363G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.693,-2.961,1.268,0.225,H,A,0.75,0,,,,0.000471435,0,0.0160769,0.85468
2798,P26440,R,C,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,306,3711,ENSG00000128928,ENST00000249760,,IVD,0.12,probably_damaging,1,deleterious,0,4.47356,23.9,P26440_R50C,R,C,50,RC,R50C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.034,H,A,1.66,-0.37,,,,0.00125928,0,0.0429439,0.518179
2847,P35555,N,Y,1131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,158326,56620,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.39,probably_damaging,0.994,deleterious,0,3.77237,19.15,P35555_N1131Y,N,Y,1131,NY,N1131Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-1.26,-3.898,2.638,,,,,,,,,,,,0.754441
2849,P35555,G,S,1127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,158314,56632,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.39,probably_damaging,0.993,deleterious,0.02,4.5806,24.9,P35555_G1127S,G,S,1127,GS,G1127S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,,,,,,,,0.814173
2860,P35555,R,X,529,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.08,,,,,,,,,132158,82788,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.18,,,,,10.0955,43,P35555_R529X,R,X,529,RX,R529X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2861,P35555,R,C,485,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,130308,84638,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.17,possibly_damaging,0.864,deleterious,0.01,4.76832,26.8,P35555_R485C,R,C,485,RC,R485C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.543,-4.898,3.355,,,,,,0.587,,66.95,,,,0.766677
2900,P06865,W,C,431,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,708,362,ENSG00000213614,ENST00000566304,,HEXA,0.8,probably_damaging,1,deleterious,0,4.74131,26.5,P06865_W431C,W,C,431,WC,W431C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.036,-4.718,3.682,0.026,H,A,0.01,-0.82,,,,0.00155157,0,0.0529116,0.612402
2943,P34949,R,H,275,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,1616,43,ENSG00000178802,ENST00000569931,,MPI,0.95,probably_damaging,1,deleterious,0,5.16663,32,P34949_R275H,R,H,275,RH,R275H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00189867,0,0.0647486,0.983511
2954,P16930,D,V,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,33,1514,ENSG00000103876,ENST00000407106,CCDS10314.1,FAH,0.56,probably_damaging,1,deleterious,0,3.5587,18.14,P16930_D233V,D,V,233,DV,D233V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.139,-3.489,2.35,,.,b,1.19,-1.07,,,,0.000340551,0,0.0116135,0.57038
2966,P12271,R,Q,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,6482,4383,ENSG00000140522,ENST00000268125,CCDS32324.1,RLBP1,0.48,probably_damaging,1,tolerated,0.11,4.45711,23.8,P12271_R151Q,R,Q,151,RQ,R151Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.565,-3.439,1.874,0.017,E,B,0.56,-1,1.223,,74.76,0.00552526,0,0.188423,0.653657
2992,P54132,T,I,843,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,7163,378,ENSG00000197299,ENST00000560509,,BLM,0.66,possibly_damaging,0.779,tolerated,0.14,3.58023,18.24,P54132_T843I,T,I,843,TI,T843I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.401,-3.668,2.267,,,,,,0.893,,40.08,,,,0.777608
2994,Q9H267,R,X,441,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,1043,632,ENSG00000184056,ENST00000535843,,VPS33B,0.84,,,,,9.09964,41,Q9H267_R441X,R,X,441,RX,R441X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00236076,0,0.0805068,0.959768
3020,P49815,K,X,12,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,447,1712,ENSG00000103197,ENST00000439673,,TSC2,0.01,,,,,6.54631,37,P49815_K12X,K,X,12,KX,K12X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
3047,O15553,A,S,744,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,0.001,0,0.002,0.001,,0.01,,0.001,13331,116,ENSG00000103313,ENST00000219596,CCDS10498.1,MEFV,0.95,benign,0.001,tolerated,0.66,-1.43973,0.02,O15553_A744S,A,S,744,AS,A744S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-2.308,-2.064,-0.244,0.65,.,B,0.27,-0.41,17.628,17.628,93.21,0.00424131,0,0.144637,0.954455
3062,Q92793,Q,X,357,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.07,,,,,,,,,86588,65994,ENSG00000005339,ENST00000262367,CCDS10509.1,CREBBP,0.15,,,,,12.7415,46,Q92793_Q357X,Q,X,357,QX,Q357X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3245,P51168,P,L,312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,12462,4305,ENSG00000168447,ENST00000307331,,SCNN1B,0.46,benign,0.193,deleterious,0,3.64041,18.51,P51168_P312L,P,L,312,PL,P312L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00161514,0,0.0550798,0.907353
3302,Q96J66,G,R,180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,0.098,0.031,0.132,0.31,0.9,0.12,0.01,0.14,580,62,ENSG00000121270,ENST00000394747,CCDS10732.1,ABCC11,0.13,probably_damaging,0.986,deleterious,0,4.11672,21.2,Q96J66_G180R,G,R,180,GR,G180R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.000567165,0,0.0193415,0.78896
3309,Q9NSC2,S,X,372,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,9491,3775,ENSG00000103449,ENST00000251020,CCDS10747.1,SALL1,0.28,,,,,2.44295,14.13,Q9NSC2_S372X,S,X,372,SX,S372X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
3494,P49748,F,L,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,82,160,ENSG00000072778,ENST00000542255,,ACADVL,0.28,,,,,1.63657,11.43,P49748_F78L,F,L,78,FL,F78L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.161,-2.565,1.404,,T,A,0.03,-0.28,13.014,13.014,43.97,0.0015756,0,0.0537312,0.825085
3571,Q9UKN7,G,V,1831,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,1830,1034,ENSG00000091536,ENST00000205890,CCDS42271.1,MYO15A,0.52,,,deleterious,0,3.60188,18.34,Q9UKN7_G1831V,G,V,1831,GV,G1831V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.763,-3.609,2.846,,,,,,,,,,,,0.758012
3636,P35527,R,W,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,553,5662,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.26,probably_damaging,1,deleterious,0,2.33475,13.76,P35527_R163W,R,W,163,RW,R163W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.29,-5.196,3.906,,,,,,0.238,,41.09,0.000506692,0,0.0172792,0.836848
3637,P35527,N,K,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,549,5666,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.26,probably_damaging,1,deleterious,0,1.78735,11.94,P35527_N161K,N,K,161,NK,N161K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-0.975,-3.107,2.132,,,,,,,,,0.000425878,0,0.0145233,0.847833
3638,P35527,N,I,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,548,5667,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.26,probably_damaging,1,deleterious,0,2.82773,15.42,P35527_N161I,N,I,161,NI,N161I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-0.975,-3.885,2.91,,,,,,,,,0.000425878,0,0.0145233,0.802987
3639,P35527,N,S,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,548,5667,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.26,probably_damaging,1,deleterious,0,2.79158,15.3,P35527_N161S,N,S,161,NS,N161S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-0.975,-2.811,1.836,,,,,,,,,0.000425878,0,0.0145233,0.910506
3640,P35527,N,Y,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,547,5668,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.26,probably_damaging,1,deleterious,0,2.73269,15.1,P35527_N161Y,N,Y,161,NY,N161Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-0.975,-4.037,3.062,,,,,,,,,0.000425878,0,0.0145233,0.789759
3672,P51692,R,X,152,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,52929,15,ENSG00000173757,ENST00000415845,,STAT5B,0.97,,,,,3.63199,18.47,P51692_R152X,R,X,152,RX,R152X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000777169,0,0.0265031,0.977351
3871,P57082,Q,R,531,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,27024,834,ENSG00000121075,ENST00000240335,CCDS11629.1,TBX4,0.97,possibly_damaging,0.596,deleterious,0,3.72775,18.93,P57082_Q531R,Q,R,531,QR,Q531R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.629,-3.248,1.619,,,,,,1.82,,73.21,0.0295035,0.0714286,1.00613,0.916728
3894,P35499,G,V,1306,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,29073,5292,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.71,probably_damaging,0.984,deleterious,0,3.71719,18.88,P35499_G1306V,G,V,1306,GV,G1306V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.234,-3.647,2.413,,,,,,2.815,,66.88,0.000541188,0.00188679,0.0184556,0.848945
3895,P35499,G,E,1306,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,29073,5292,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.71,probably_damaging,0.958,deleterious,0,3.91439,19.91,P35499_G1306E,G,E,1306,GE,G1306E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.234,-3.527,2.293,,,,,,4.795,,66.88,0.000541188,0.00188679,0.0184556,0.851012
3917,P63252,D,V,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,5716,1073,ENSG00000123700,ENST00000535240,CCDS11688.1,KCNJ2,0.17,probably_damaging,1,deleterious,0,3.35592,17.3,P63252_D71V,D,V,71,DV,D71V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.139,-3.489,2.35,0.561,T,A,1.19,0.45,,,,0.000470411,0,0.016042,0.791115
3918,P63252,T,R,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,5728,1061,ENSG00000123700,ENST00000535240,CCDS11688.1,KCNJ2,0.18,probably_damaging,1,deleterious,0,3.56605,18.18,P63252_T75R,T,R,75,TR,T75R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.245,-3.443,2.198,0.432,H,A,0.98,-0.07,,,,0.000436869,0,0.0148981,0.788222
3998,Q15583,S,C,8,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,1006,694,ENSG00000177426,ENST00000345133,CCDS11835.1,TGIF1,0.03,probably_damaging,0.905,deleterious,0,2.6627,14.86,Q15583_S8C,S,C,8,SC,S8C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.000347673,0,0.0118563,0.989891
4000,Q15583,Q,L,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,0,0,0,,,,,,2027,16,ENSG00000177426,ENST00000345133,CCDS11835.1,TGIF1,0.35,benign,0.216,deleterious,0,2.08924,12.94,Q15583_Q87L,Q,L,87,QL,Q87L,Polar,Hydrophobic,6.24,9.71,3.47,146,131,-15,143.8,166.7,22.9,113,,,,,,,,,,,,0.000145934,0,0.00497665,0.987235
4014,Q01718,Y,C,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,891,133,ENSG00000185231,ENST00000327606,CCDS11869.1,MC2R,0.86,probably_damaging,0.999,deleterious,0,3.63291,18.48,Q01718_Y254C,Y,C,254,YC,Y254C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.421,-5.004,3.583,,,,,,0.741,,50.51,0.00373666,0,0.127428,0.807706
4024,O15118,Y,C,1088,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,24660,3737,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.85,probably_damaging,1,deleterious,0,4.68703,25.9,O15118_Y1088C,Y,C,1088,YC,Y1088C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.097,-5.173,4.076,,,,,,0.424,,36.62,0.00104248,0,0.0355507,0.763113
4034,O15118,V,M,950,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,20925,313,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.74,benign,0.032,tolerated,0.17,1.87169,12.22,O15118_V950M,V,M,950,VM,V950M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-2.155,-2.779,0.624,,,,,,9.201,9.201,89.05,0.00081911,0,0.0279333,1.01745
4036,O15118,V,M,889,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,20402,211,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.7,probably_damaging,0.934,tolerated,0.13,4.88576,28,O15118_V889M,V,M,889,VM,V889M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.218,-2.724,1.506,,,,,,7.427,7.427,36.7,0.000819585,0,0.0279496,0.948479
4064,P02766,A,P,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,1115,554,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.38,possibly_damaging,0.842,tolerated,0.24,2.04514,12.8,P02766_A56P,A,P,56,AP,A56P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-2.293,-3.093,0.8,0.136,.,B,0.52,1.12,15.481,15.481,87.76,0.0128324,0,0.437611,0.903898
4117,O43520,D,N,554,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,56815,28564,ENSG00000081923,ENST00000283684,CCDS11965.1,ATP8B1,0.44,probably_damaging,0.999,deleterious,0,4.31092,22.6,O43520_D554N,D,N,554,DN,D554N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.057,-3,1.943,,,,,,,,,0.000202095,0,0.00689185,0.903243
4129,Q6UXH8,C,S,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.13,,,,,,,,,10673,34358,ENSG00000183287,ENST00000439986,CCDS32838.1,CCBE1,0.25,probably_damaging,0.973,deleterious,0,4.9184,28.4,Q6UXH8_C102S,C,S,102,CS,C102S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.293,-3.163,1.87,,,,,,,,,0.000921764,0,0.0314341,0.894367
4145,P32245,D,V,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,0,0,0,,,,,,529,909,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.11,benign,0.011,tolerated,0.11,1.47664,10.88,P32245_D37V,D,V,37,DV,D37V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-2.039,-3.419,1.38,,,,,,4.589,,87.95,0.00349429,0.00677966,0.119163,0.955308
4146,P32245,Y,X,35,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.03,0,0,0,,,,,,524,914,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.11,,,,,6.891,38,P32245_Y35X,Y,X,35,YX,Y35X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00271894,0,0.0927213,0.945391
4199,P06213,R,Q,1191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,173294,8452,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.86,probably_damaging,0.996,deleterious,0,5.39649,34,P06213_R1191Q,R,Q,1191,RQ,R1191Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.547,E,b,0.56,0.43,,,,0.000821899,0,0.0280285,0.905016
4200,P06213,M,I,1180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,173262,8484,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.85,probably_damaging,0.995,deleterious,0,4.71823,26.2,P06213_M1180I,M,I,1180,MI,M1180I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.71,-2.846,1.136,0.255,.,b,0.07,3.18,,,,0.000679434,0,0.0231701,0.91944
4207,P06213,R,S,762,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,150929,30817,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.55,possibly_damaging,0.555,deleterious,0.04,2.20104,13.32,P06213_R762S,R,S,762,RS,R762S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.674,-3.19,1.516,,,,,,2.675,,67.73,0.000784035,0,0.0267372,0.924116
4209,P06213,N,S,489,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,123447,58299,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.35,probably_damaging,0.968,deleterious,0,3.54038,18.06,P06213_N489S,N,S,489,NS,N489S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.26,-2.671,1.411,0.013,B,b,0.34,-0.94,,,,0.000159003,0,0.00542234,0.788946
4210,P06213,K,E,487,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,123440,58306,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.35,benign,0.011,deleterious,0.03,2.85563,15.51,P06213_K487E,K,E,487,KE,K487E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.432,-2.87,1.438,0.924,T,A,1.3,-0.23,3.444,,66.71,0.000277128,0,0.00945063,0.895864
4235,P26358,Y,C,495,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,40063,21670,ENSG00000130816,ENST00000340748,CCDS12228.1,DNMT1,0.31,probably_damaging,0.998,deleterious,0,3.14505,16.52,P26358_Y495C,Y,C,495,YC,Y495C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,,,,,,,,,0.000288635,0,0.00984304,0.777541
4240,P50570,R,W,465,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,80464,33361,ENSG00000079805,ENST00000359692,CCDS45968.1,DNM2,0.53,probably_damaging,0.997,deleterious,0,3.85531,19.59,P50570_R465W,R,W,465,RW,R465W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,,,,,,,,,4.57e-05,0,0.00155946,0.81645
4285,O00555,F,S,1489,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,248751,50161,ENSG00000141837,ENST00000573710,,CACNA1A,0.59,probably_damaging,0.994,,,2.71807,15.05,O00555_F1489S,F,S,1489,FS,F1489S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,7.24e-05,0,0.00246996,0.962828
4362,P06744,I,T,536,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,34806,2481,ENSG00000105220,ENST00000415930,CCDS54246.1,GPI,0.94,probably_damaging,0.999,deleterious,0,4.73026,26.4,P06744_I536T,I,T,536,IT,I536T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.00342074,0,0.116654,0.966884
4363,P06744,D,N,550,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,34847,2440,ENSG00000105220,ENST00000415930,CCDS54246.1,GPI,0.97,probably_damaging,0.984,deleterious,0,4.98812,29.2,P06744_D550N,D,N,550,DN,D550N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00143894,0,0.0490707,0.925198
4436,P02655,Y,X,85,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0,,,,,,,,,3212,360,ENSG00000234906,ENST00000252490,CCDS12650.1,APOC2,0.84,,,,,2.41447,14.03,P02655_Y85X,Y,X,85,YX,Y85X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0234358,0,0.799208,0.925965
4472,P02792,A,T,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,1008,562,ENSG00000087086,ENST00000331825,CCDS33070.1,FTL,0.55,benign,0.186,tolerated,0.14,2.72259,15.06,P02792_A96T,A,T,96,AT,A96T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.013,-3.014,2.001,,H,A,0.22,-0.69,,,,0.00771705,0,0.263167,0.649198
4494,P38117,D,N,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,4458,5229,ENSG00000105379,ENST00000354232,CCDS33085.1,ETFB,0.63,possibly_damaging,0.785,deleterious,0,4.30442,22.5,P38117_D219N,D,N,219,DN,D219N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00801142,0,0.273206,0.947649
4522,P07202,R,X,540,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,3172,29142,ENSG00000115705,ENST00000329066,CCDS1643.1,TPO,0.58,,,,,4.50565,24.2,P07202_R540X,R,X,540,RX,R540X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000445563,0,0.0151946,0.977351
4539,O15232,C,S,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,9499,1044,ENSG00000132031,ENST00000407540,CCDS46226.1,MATN3,0.63,probably_damaging,0.999,deleterious,0,4.35895,23,O15232_C304S,C,S,304,CS,C304S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.111,-3.241,2.13,,,,,,,,,0.000838254,0,0.0285862,0.851213
4591,Q9UI10,A,D,390,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,1950,15,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.75,possibly_damaging,0.854,deleterious,0,4.23765,22.1,Q9UI10_A390D,A,D,390,AD,A390D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.088,-3.471,2.383,,,,,,,,,0.00394356,0,0.134483,0.779833
4699,P23945,R,C,511,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,34210,389,ENSG00000170820,ENST00000346173,,FSHR,0.81,probably_damaging,0.999,deleterious,0,4.18707,21.7,P23945_R511C,R,C,511,RC,R511C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000407025,0,0.0138804,0.954625
4700,P23945,D,N,505,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,34192,407,ENSG00000170820,ENST00000346173,,FSHR,0.8,probably_damaging,0.998,deleterious,0,4.59035,25,P23945_D505N,D,N,505,DN,D505N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.0015746,0,0.053697,0.925198
4733,Q16854,E,K,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,24150,759,ENSG00000114956,ENST00000264093,CCDS1931.1,DGUOK,0.82,probably_damaging,0.999,deleterious,0,5.11378,32,Q16854_E227K,E,K,227,EK,E227K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,0.16,I,A,1.3,-0.3,,,,0.00445076,0,0.15178,0.726528
4771,Q16281,P,L,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,9795,77,ENSG00000144191,ENST00000409937,,CNGA3,0.24,probably_damaging,0.964,deleterious,0,4.06559,20.9,Q16281_P167L,P,L,167,PL,P167L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00170538,0,0.0581571,0.918744
4866,P35498,I,M,1656,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,81315,1062,ENSG00000144285,ENST00000423058,,SCN1A,0.82,probably_damaging,1,deleterious,0,3.25548,16.92,P35498_I1656M,I,M,1656,IM,I1656M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.313,-3.807,2.494,,,,,,,,,4.86e-05,0,0.00165887,0.848533
4887,Q15858,N,Y,506,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,22066,2746,ENSG00000169432,ENST00000452182,,SCN9A,0.94,probably_damaging,0.987,tolerated,0.51,2.33508,13.77,Q15858_N506Y,N,Y,506,NY,N506Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,,,,,,,,,,,,,,,0.931275
4894,Q15858,I,V,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,184,112901,ENSG00000169432,ENST00000409672,CCDS46441.1,SCN9A,0.03,possibly_damaging,0.497,tolerated,0.08,4.01975,20.6,Q15858_I62V,I,V,62,IV,I62V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.087,-2.279,1.192,,,,,,,,,,,,0.889468
4913,P02708,G,S,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,10171,1487,ENSG00000138435,ENST00000409542,,CHRNA1,0.24,probably_damaging,0.998,deleterious,0.04,4.74819,26.5,P02708_G91S,G,S,91,GS,G91S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.000476436,0,0.0162474,0.993008
4924,P28358,M,K,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.15,,,,,,,,,2585,80,ENSG00000128710,ENST00000249501,CCDS2266.1,HOXD10,0.94,probably_damaging,0.999,deleterious,0,4.31556,22.6,P28358_M319K,M,K,319,MK,M319K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.71,-3.192,1.482,,,,,,,,,0.0128812,0,0.439275,0.842099
4931,Q0ZLH3,R,X,115,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.07,,,,,,,,,1385,673,ENSG00000204311,ENST00000442710,,DFNB59,0.74,,,,,3.75526,19.07,Q0ZLH3_R115X,R,X,115,RX,R115X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4953,Q9NP59,G,V,323,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,16870,3439,ENSG00000138449,ENST00000261024,CCDS2299.1,SLC40A1,0.57,probably_damaging,0.986,tolerated,0.05,4.56034,24.7,Q9NP59_G323V,G,V,323,GV,G323V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.993,-3.624,2.631,,,,,,1.5,,61.12,0.00187943,0,0.0640924,0.832983
4963,P42224,Q,H,465,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,16,5208,ENSG00000115415,ENST00000392323,,STAT1,0.65,probably_damaging,0.993,deleterious,0,5.0375,29.8,P42224_Q465H,Q,H,465,QH,Q465H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,,,,,,,,,,,,0.000764413,0,0.026068,1.00291
4966,P10809,D,G,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,1055,89,ENSG00000144381,ENST00000544407,,HSPD1,0.18,benign,0.115,deleterious,0,4.11213,21.2,P10809_D29G,D,G,29,DG,D29G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.264,-2.815,1.551,0.262,E,B,0.46,0,,,,0.00237943,0,0.0811436,0.832267
4968,Q92851,I,L,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,23585,8379,ENSG00000003400,ENST00000313728,CCDS56159.1,CASP10,0.75,benign,0.034,tolerated,0.32,1.02664,9.193,Q92851_I339L,I,L,339,IL,I339L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,,,,0.958385
4974,Q96Q42,C,Y,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,19399,53,ENSG00000003393,ENST00000467448,CCDS46492.1,ALS2,0.4,probably_damaging,0.999,deleterious,0.01,4.51921,24.3,Q96Q42_C157Y,C,Y,157,CY,C157Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.293,-3.939,2.646,,,,,,,,,,,,0.755141
5011,Q86UK0,E,K,1221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,51479,47986,ENSG00000144452,ENST00000389661,CCDS33373.1,ABCA12,0.54,probably_damaging,1,deleterious,0,5.80787,36,Q86UK0_E1221K,E,K,1221,EK,E1221K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
5015,P31939,K,R,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,0,0,0,,,,,,5958,760,ENSG00000138363,ENST00000426233,,ATIC,0.41,probably_damaging,1,deleterious,0,5.55705,35,P31939_K95R,K,R,95,KR,K95R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,,,,,,,,,,,,0.00168825,0,0.0575728,0.928451
5020,Q9NZC9,Q,X,34,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,205,42,ENSG00000138375,ENST00000357276,CCDS2403.1,SMARCAL1,0.04,,,,,6.25772,37,Q9NZC9_Q34X,Q,X,34,QX,Q34X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000267126,0,0.00910953,0.98231
5043,Q02318,R,Q,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,0,0,0,,,,,,32235,318,ENSG00000135929,ENST00000258415,CCDS2423.1,CYP27A1,0.76,probably_damaging,1,deleterious,0,5.50715,35,Q02318_R405Q,R,Q,405,RQ,R405Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.064,-3.324,2.26,,,,,,,,,0.00109823,0,0.0374518,0.75273
5280,P04156,D,N,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,13209,120,ENSG00000171867,ENST00000424424,,PRNP,0.71,probably_damaging,0.995,deleterious,0,4.43766,23.6,P04156_D178N,D,N,178,DN,D178N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.848,-3.132,2.284,0.317,H,A,0.14,-0.28,,,,0.00609977,0,0.208015,0.673329
5283,Q8NFJ6,L,R,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,0.003,0.001,0.003,0.001,,,,0.004,11693,637,ENSG00000101292,ENST00000546004,CCDS13089.1,PROKR2,0.45,probably_damaging,0.956,deleterious,0.01,3.64304,18.53,Q8NFJ6_L173R,L,R,173,LR,L173R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.443,-3.905,2.462,,,,,,1.141,,52.6,0.0042313,0,0.144296,0.843182
5330,P48637,D,G,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,9754,8148,ENSG00000100983,ENST00000216951,CCDS13245.1,GSS,0.46,probably_damaging,0.972,deleterious,0.01,4.99498,29.3,P48637_D219G,D,G,219,DG,D219G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.985,-2.95,1.965,0.006,H,A,0.46,-0.92,,,,0.00108949,0,0.0371538,0.65125
5513,P50747,L,P,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,29739,434,ENSG00000159267,ENST00000399120,CCDS13647.1,HLCS,0.33,probably_damaging,0.976,deleterious,0,4.70142,26.1,P50747_L237P,L,P,237,LP,L237P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.041,-3.974,2.933,,,,,,0.981,,60.06,0.000932647,0,0.0318052,0.833573
5514,P50747,L,R,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,29676,371,ENSG00000159267,ENST00000399120,CCDS13647.1,HLCS,0.3,probably_damaging,0.993,deleterious,0,3.20262,16.72,P50747_L216R,L,R,216,LR,L216R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-0.941,-3.808,2.867,,,,,,,,,0.00101251,0,0.0345287,0.726656
5564,O95613,E,X,220,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,8,3655,ENSG00000160299,ENST00000359568,CCDS33592.1,PCNT,0.07,,,,,4.43993,23.6,O95613_E220X,E,X,220,EX,E220X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
5798,P40337,V,F,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,7273,327,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.73,possibly_damaging,0.831,deleterious,0,4.17456,21.6,P40337_V125F,V,F,125,VF,V125F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,0.0107848,0,0.367785,0.934085
5799,P40337,R,Q,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,7277,323,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.73,probably_damaging,0.983,deleterious,0,5.03847,29.8,P40337_R126Q,R,Q,126,RQ,R126Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.01038,0,0.353979,0.938343
5801,P40337,P,S,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,7351,249,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.88,probably_damaging,0.997,deleterious,0,4.83017,27.4,P40337_P151S,P,S,151,PS,P151S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.00551226,0,0.187979,0.953135
5810,P37231,V,M,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,37130,319,ENSG00000132170,ENST00000287820,CCDS2609.1,PPARG,0.63,probably_damaging,0.97,deleterious,0,5.06999,31,P37231_V318M,V,M,318,VM,V318M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.449,-3.97,2.521,0.108,H,A,0.11,-1.02,1.127,,62.38,0.00260611,0,0.0888736,0.626361
5813,P37231,P,L,495,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,82542,106,ENSG00000132170,ENST00000287820,CCDS2609.1,PPARG,0.98,probably_damaging,0.998,deleterious,0,5.08915,31,P37231_P495L,P,L,495,PL,P495L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,0.654,H,A,1.07,0.77,,,,0.0268154,0,0.914459,0.735342
5823,Q9Y215,R,X,315,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,40391,6658,ENSG00000206561,ENST00000383788,CCDS33709.1,COLQ,0.69,,,,,5.90527,36,Q9Y215_R315X,R,X,315,RX,R315X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0034684,0,0.11828,0.951177
5833,P10828,P,T,453,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,42683,75,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.98,probably_damaging,0.987,deleterious,0,4.9392,28.7,P10828_P453T,P,T,453,PT,P453T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.115,-3.157,2.042,0.835,H,A,0.3,-0.32,,,,0.0320712,0,1.0937,0.748424
5836,P10828,K,E,443,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,42653,105,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.96,probably_damaging,0.996,deleterious,0,4.64191,25.5,P10828_K443E,K,E,443,KE,K443E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.415,-2.72,1.305,0.457,H,A,1.3,1.37,5.713,,55.31,0.00876677,0,0.298965,0.841317
5837,P10828,M,V,442,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,42650,108,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.96,benign,0.074,tolerated,0.17,2.4767,14.24,P10828_M442V,M,V,442,MV,M442V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.776,-2.665,0.889,0.032,H,A,0.11,0.8,6.652,,69.41,0.00916251,0,0.312461,0.884394
5838,P10828,R,H,438,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,42639,119,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.95,probably_damaging,0.961,deleterious,0,5.47493,35,P10828_R438H,R,H,438,RH,R438H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.192,H,A,1.03,0.71,,,,0.00347136,0,0.118381,0.722826
5841,P10828,G,E,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,37993,4765,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.75,probably_damaging,0.991,deleterious,0,5.39728,34,P10828_G347E,G,E,347,GE,G347E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,0.092,T,p,0.75,-0.78,,,,0.00115784,0,0.0394847,0.547946
5873,P16278,T,A,369,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,15907,149,ENSG00000170266,ENST00000307377,CCDS46785.1,GLB1,0.68,possibly_damaging,0.44,tolerated,0.07,4.00592,20.5,P16278_T369A,T,A,369,TA,T369A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.204,-2.663,1.459,0.05,.,B,0.22,-0.78,6.439,,58.94,0.00269188,0,0.0917985,0.753596
5877,P16278,G,E,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,11717,1774,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.63,probably_damaging,0.986,deleterious,0.03,3.87577,19.7,P16278_G408E,G,E,408,GE,G408E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.002712,0,0.0924847,0.949036
5889,P16278,R,C,19,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,72,3725,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.03,probably_damaging,0.996,deleterious,0,5.35948,34,P16278_R19C,R,C,19,RC,R19C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000119872,0,0.00408789,0.962266
5904,Q99836,R,C,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,770,70,ENSG00000172936,ENST00000396334,CCDS2674.2,MYD88,0.68,probably_damaging,1,deleterious,0,4.0412,20.7,Q99836_R209C,R,C,209,RC,R209C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
5910,Q14524,Y,C,1741,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,82329,667,ENSG00000183873,ENST00000449557,,SCN5A,0.89,probably_damaging,0.989,deleterious,0,3.55833,18.14,Q14524_Y1741C,Y,C,1741,YC,Y1741C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
5911,Q14524,Y,H,1741,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,82328,668,ENSG00000183873,ENST00000449557,,SCN5A,0.89,probably_damaging,0.978,deleterious,0,3.84051,19.51,Q14524_Y1741H,Y,H,1741,YH,Y1741H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,,,,0.949803
5928,Q14524,A,V,735,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,35530,47466,ENSG00000183873,ENST00000449557,,SCN5A,0.37,benign,0.187,deleterious,0,4.15172,21.5,Q14524_A735V,A,V,735,AV,A735V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.088,-2.856,1.768,,,,,,,,,,,,0.857244
5934,Q96DW6,R,P,187,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,0,0,0,,,,,,8567,336,ENSG00000144659,ENST00000273158,CCDS2685.1,SLC25A38,0.62,probably_damaging,1,deleterious,0,4.30888,22.6,Q96DW6_R187P,R,P,187,RP,R187P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.442,-2.04,0.598,,,,,,17.413,17.413,35.2,0.00312707,0.00854701,0.10664,0.940289
5967,Q02388,G,C,2623,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,735,67,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.89,,,,,1.50008,10.96,Q02388_G2623C,G,C,2623,GC,G2623C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.145,-5,3.855,,,,,,0.397,,53.4,,,,0.763236
5982,O43772,R,X,116,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.03,,,,,,,,,36312,5189,ENSG00000178537,ENST00000544097,,SLC25A20,0.46,,,,,6.25588,37,O43772_R116X,R,X,116,RX,R116X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00412256,0,0.140588,0.951177
6010,Q9UBX0,I,T,26,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,97,1053,ENSG00000163666,ENST00000473921,,HESX1,0.17,probably_damaging,0.991,deleterious,0,3.62049,18.42,Q9UBX0_I26T,I,T,26,IT,I26T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.212,-3.239,2.027,,,,,,,,,0.00371537,0.00628931,0.126702,0.825212
6024,O75369,L,V,234,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,3203,89086,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.09,probably_damaging,0.983,deleterious,0.04,4.33468,22.8,O75369_L234V,L,V,234,LV,L234V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.117,-2.631,1.514,,H,A,0.11,-0.59,,,,3.02e-05,0,0.00102942,0.798347
6025,O75369,S,P,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,3206,89083,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.09,possibly_damaging,0.876,deleterious,0,5.43542,35,O75369_S235P,S,P,235,SP,S235P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.239,-3.432,2.193,0.008,T,A,0.25,-0.25,,,,3.01e-05,0,0.00102633,0.679588
6029,O75369,G,R,751,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,31141,61148,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.29,probably_damaging,1,deleterious,0,4.97778,29.1,O75369_G751R,G,R,751,GR,G751R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,9.77e-05,0,0.00333045,0.793499
6038,O75369,G,R,1823,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,684,2370,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.7,probably_damaging,1,deleterious,0,5.20804,33,O75369_G1823R,G,R,1823,GR,G1823R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.000190368,0,0.00649193,0.972859
6120,P41180,G,E,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,2992,316,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.13,probably_damaging,0.999,deleterious,0,5.2227,33,P41180_G143E,G,E,143,GE,G143E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.781,-3.819,3.038,,,,,,1.705,,35.53,0.000511223,0,0.0174337,0.818904
6123,P41180,R,X,185,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,7426,23700,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.17,,,,,5.63718,36,P41180_R185X,R,X,185,RX,R185X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000215216,0,0.00733931,0.977351
6124,P41180,E,K,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,7444,23682,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.18,possibly_damaging,0.88,tolerated,0.65,3.02465,16.09,P41180_E191K,E,K,191,EK,E191K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-2.524,-2.848,0.324,,,,,,9.638,9.638,31.35,0.00121459,0,0.0414201,0.969318
6133,P41180,F,S,612,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,29627,1499,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.57,probably_damaging,0.998,deleterious,0,3.75512,19.07,P41180_F612S,F,S,612,FS,F612S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-2.408,-3.839,1.431,,,,,,3.273,,31.35,0.000962736,0,0.0328313,0.878134
6143,P41180,S,F,820,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,30251,875,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.76,probably_damaging,0.999,deleterious,0,4.04158,20.7,P41180_S820F,S,F,820,SF,S820F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.681,-4.376,2.695,,,,,,3.971,,4.73,0.000513675,0,0.0175174,0.772084
6183,P08100,H,P,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.13,,,,,,,,,3712,2818,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.61,probably_damaging,1,deleterious,0,4.45475,23.8,P08100_H211P,H,P,211,HP,H211P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-1.433,-3.615,2.182,0.006,I,a,0.35,-0.33,,,,0.000216709,0,0.00739021,0.655272
6208,P02787,E,K,394,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,0,0,0,,,,,,995,13,ENSG00000091513,ENST00000402696,CCDS3080.1,TF,0.56,possibly_damaging,0.863,tolerated,0.11,5.0383,29.8,P02787_E394K,E,K,394,EK,E394K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.119,-2.986,1.867,0.182,H,A,1.3,-1.22,2.724,,59.74,0.00156987,0,0.0535357,0.648791
6214,P05166,R,W,387,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,67034,91,ENSG00000114054,ENST00000462637,,PCCB,0.75,probably_damaging,0.999,deleterious,0,3.98912,20.4,P05166_R387W,R,W,387,RW,R387W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
6355,Q13144,V,A,430,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,0,0,0,,,,,,52,14,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.6,possibly_damaging,0.866,deleterious,0,4.55316,24.6,Q13144_V430A,V,A,430,VA,V430A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.201,-2.63,1.429,,,,,,,,,0.00128388,0,0.0437829,0.841504
6356,Q13144,S,L,447,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,166,231,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.62,benign,0.07,deleterious,0,3.20556,16.74,Q13144_S447L,S,L,447,SL,S447L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.583,-3.105,1.522,,,,,,4.71,,72.12,0.00181082,0,0.0617526,1.02877
6369,Q15848,R,C,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,1821,2417,ENSG00000181092,ENST00000412955,CCDS3284.1,ADIPOQ,0.46,probably_damaging,0.97,deleterious,0,3.55862,18.14,Q15848_R112C,R,C,112,RC,R112C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.69,-4.946,3.256,0.175,.,B,1.66,-1.06,0.919,,83.2,0.00505715,0,0.172459,0.598453
6381,Q9H3D4,D,G,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,78838,4937,ENSG00000073282,ENST00000392461,,TP63,0.62,possibly_damaging,0.766,deleterious,0,4.714,26.2,Q9H3D4_D257G,D,G,257,DG,D257G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00108407,0,0.0369691,0.914885
6527,Q9Y6R1,Q,X,29,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,280,133975,ENSG00000080493,ENST00000340595,CCDS3549.1,SLC4A4,0.03,,,,,7.25024,38,Q9Y6R1_Q29X,Q,X,29,QX,Q29X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6622,P02675,R,X,47,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,0,0,0,,,,,,51,691,ENSG00000171564,ENST00000302068,CCDS3786.1,FGB,0.1,,,,,5.6772,36,P02675_R47X,R,X,47,RX,R47X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00124006,0,0.0422887,0.900587
6683,P03951,C,X,146,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.08,,,,,,,,,1247,382,ENSG00000088926,ENST00000492972,,F11,0.9,,,,,2.77359,15.24,P03951_C146X,C,X,146,CX,C146X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000428072,0,0.0145981,0.980504
6797,O15520,R,S,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,290,43,ENSG00000070193,ENST00000264664,CCDS3950.1,FGF10,0.38,probably_damaging,1,deleterious,0,3.52501,18,O15520_R80S,R,S,80,RS,R80S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.281,-3.163,1.882,0.085,E,B,0.93,-1.06,,,,0.00326598,0,0.111377,0.620863
6820,O95263,H,P,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,23763,1663,ENSG00000113231,ENST00000333194,CCDS34190.1,PDE8B,0.37,benign,0.338,tolerated,0.08,2.98006,15.94,O95263_H305P,H,P,305,HP,H305P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-1.748,-3.684,1.936,,,,,,1.966,,79.55,,,,0.882047
6861,P49419,A,V,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,2958,52,ENSG00000164904,ENST00000553117,,ALDH7A1,0.42,probably_damaging,0.999,deleterious,0,4.16215,21.5,P49419_A199V,A,V,199,AV,A199V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.337,-2.959,1.622,,H,A,0.44,-0.71,3.661,,66.42,0.000866126,0,0.0295367,0.769915
6871,O76082,R,W,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,8068,2998,ENSG00000197375,ENST00000245407,CCDS4154.1,SLC22A5,0.3,probably_damaging,1,deleterious,0,4.47033,23.9,O76082_R169W,R,W,169,RW,R169W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,0.000583235,0,0.0198895,0.802714
6894,Q15582,R,W,555,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,1281,2366,ENSG00000120708,ENST00000442011,CCDS47266.1,TGFBI,0.81,possibly_damaging,0.824,deleterious,0.02,3.69787,18.78,Q15582_R555W,R,W,555,RW,R555W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.059,-5.069,3.01,0.389,H,A,1.67,0,0.689,,93.12,0.00221988,0,0.0757025,0.762773
6895,Q15582,R,Q,555,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,1282,2365,ENSG00000120708,ENST00000442011,CCDS47266.1,TGFBI,0.81,benign,0.194,tolerated,0.27,1.68475,11.59,Q15582_R555Q,R,Q,555,RQ,R555Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.059,-3.695,1.636,0.389,H,A,0.56,0,2.209,,93.12,0.00221988,0,0.0757025,0.904798
6965,Q13428,Y,C,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,3413,23054,ENSG00000070814,ENST00000445265,CCDS47306.1,TCOF1,0.04,probably_damaging,0.915,deleterious,0,3.60696,18.36,Q13428_Y50C,Y,C,50,YC,Y50C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.023,-4.718,3.695,,,,,,,,,,,,0.720739
6979,P23415,Y,X,230,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0,,,,,,,,,69786,5356,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.5,,,,,6.21899,37,P23415_Y230X,Y,X,230,YX,Y230X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000460902,0,0.0157177,0.970188
6981,Q92629,W,X,29,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,17626,244661,ENSG00000170624,ENST00000435422,CCDS47327.1,SGCD,0.1,,,,,9.78802,42,Q92629_W29X,W,X,29,WX,W29X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00199586,0,0.0680628,0.940107
6984,Q92629,E,K,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,432545,304,ENSG00000170624,ENST00000435422,CCDS47327.1,SGCD,0.9,probably_damaging,1,deleterious,0,5.62609,36,Q92629_E261K,E,K,261,EK,E261K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.0127856,0,0.436016,0.849095
6985,Q08881,R,W,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,72,2613,ENSG00000113263,ENST00000422843,CCDS4336.1,ITK,0.54,possibly_damaging,0.71,deleterious,0,4.18465,21.7,Q08881_R335W,R,W,335,RW,R335W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.511,-5.133,3.622,,,,,,0.189,,40.48,0.00119833,0,0.0408654,0.798751
7009,Q96L73,C,S,2080,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,158812,1847,ENSG00000165671,ENST00000361032,,NSD1,0.8,probably_damaging,0.999,deleterious,0,4.27129,22.3,Q96L73_C2080S,C,S,2080,CS,C2080S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,,,,,,,,,,,,,,,0.945714
7058,P00488,G,R,563,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,146195,30555,ENSG00000124491,ENST00000264870,CCDS4496.1,F13A1,0.77,probably_damaging,1,deleterious,0,4.24294,22.1,P00488_G563R,G,R,563,GR,G563R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,0.149,S,l,0.91,-0.69,,,,0.000714576,0,0.0243685,0.537972
7061,P00488,V,F,415,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,124976,51774,ENSG00000124491,ENST00000264870,CCDS4496.1,F13A1,0.57,probably_damaging,0.999,deleterious,0,3.49125,17.85,P00488_V415F,V,F,415,VF,V415F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.201,-3.619,2.418,0.075,H,A,0.14,-0.82,,,,0.00170495,0,0.0581424,0.587319
7103,Q30201,S,C,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,0.011,0.003,0.015,0.01,,0.01,0.002,0.02,3518,2026,ENSG00000010704,ENST00000470149,,HFE,0.19,probably_damaging,0.976,deleterious,0,3.90726,19.87,Q30201_S65C,S,C,65,SC,S65C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.854,-5.192,3.338,0.584,T,l,0.73,0.67,1.334,,72.99,0.00364805,0,0.124406,0.77002
7106,Q30201,Q,H,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,3915,1629,ENSG00000010704,ENST00000470149,,HFE,0.37,benign,0.008,tolerated,0.25,0.8479,8.428,Q30201_Q127H,Q,H,127,QH,Q127H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-2.175,-2.689,0.514,0.392,.,B,0.47,0.99,27.875,27.875,90.8,0.0041534,0,0.141639,0.981757
7201,P08F94,R,X,496,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,0,0,0,,,,,,29262,337500,ENSG00000170927,ENST00000340994,CCDS4936.1,PKHD1,0.15,,,,,7.79662,39,P08F94_R496X,R,X,496,RX,R496X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7231,O95389,C,Y,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,3563,4817,ENSG00000112761,ENST00000361714,CCDS5097.1,WISP3,0.44,probably_damaging,1,deleterious,0,4.67364,25.8,O95389_C163Y,C,Y,163,CY,C163Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,,,,0.933113
7307,Q8NF91,R,X,16,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,100,245,ENSG00000131018,ENST00000454018,,SYNE1,0.03,,,,,4.93705,28.6,Q8NF91_R16X,R,X,16,RX,R16X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7326,O60260,K,N,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,526487,656070,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.37,probably_damaging,0.999,deleterious,0,4.23335,22,O60260_K161N,K,N,161,KN,K161N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-0.957,-3.738,2.781,,,,,,2.555,,57.2,0.00164959,0,0.0562544,0.82776
7396,P10071,Q,X,717,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.03,,,,,,,,,184577,3796,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.45,,,,,8.29522,40,P10071_Q717X,Q,X,717,QX,Q717X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000285994,0,0.009753,0.98231
7445,P08236,Y,C,444,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,9,3570,ENSG00000169919,ENST00000345660,,GUSB,0.74,possibly_damaging,0.671,deleterious,0.01,2.68145,14.93,P08236_Y444C,Y,C,444,YC,Y444C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00195958,0,0.0668259,0.940838
7501,P08123,G,C,472,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,18032,18640,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.35,,,deleterious,0,2.35559,13.83,P08123_G472C,G,C,472,GC,G472C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.861,-4.864,4.003,,,,,0,,,,2.45e-05,0,0.000836501,0.639288
7510,P08123,G,S,865,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,375,1425,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.63,,,deleterious,0,4.79702,27.1,P08123_G865S,G,S,865,GS,G865S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,0,,,,1.25e-05,0,0.000424663,0.72721
7671,P03999,S,P,214,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,1246,2054,ENSG00000128617,ENST00000249389,CCDS5806.1,OPN1SW,0.61,possibly_damaging,0.704,deleterious,0.01,3.3161,17.15,P03999_S214P,S,P,214,SP,S214P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.732,-3.783,2.051,,,,,,2.681,,92.24,0.00390243,0,0.133081,0.90292
7710,P35523,P,T,480,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,23163,12795,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.49,probably_damaging,1,deleterious,0,5.05409,30,P35523_P480T,P,T,480,PT,P480T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.035,-3.198,2.163,,,,,,,,,0.000338222,0,0.0115341,0.843823
7720,O60393,G,W,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,0.009,0.029,0,0.004,,0.01,0.01,,476,2482,ENSG00000106410,ENST00000483238,,NOBOX,0.14,benign,0.003,deleterious,0.03,0.636295,7.419,O60393_G91W,G,W,91,GW,G91W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-1.28,-5.115,3.835,,,,,,0.331,,62.04,0.000692441,0,0.0236137,0.817155
7754,Q15465,D,V,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,414,11874,ENSG00000164690,ENST00000297261,CCDS5942.1,SHH,0.19,,,deleterious,0.01,3.22233,16.8,Q15465_D88V,D,V,88,DV,D88V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.057,-3.531,2.474,0.177,.,l,1.19,0.48,,,,0.00192482,0,0.0656402,0.671897
7783,P06858,Y,X,24,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,12563,10,ENSG00000175445,ENST00000520959,,LPL,0.21,,,,,5.00243,29.4,P06858_Y24X,Y,X,24,YX,Y24X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00098462,0,0.0335776,0.902575
7835,Q14191,R,X,1305,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,69817,16303,ENSG00000165392,ENST00000298139,CCDS6082.1,WRN,0.91,,,,,11.308,45,Q14191_R1305X,R,X,1305,RX,R1305X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7847,P11362,Q,X,589,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,593,45,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.81,,,,,11.8276,45,P11362_Q589X,Q,X,589,QX,Q589X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000707438,0,0.0241251,0.98231
7880,Q9P2D1,G,R,2108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,2310,408,ENSG00000171316,ENST00000307121,,CHD7,0.7,probably_damaging,1,deleterious,0,4.92206,28.5,Q9P2D1_G2108R,G,R,2108,GR,G2108R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,,,,0.752854
7974,Q16394,R,C,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,273269,6909,ENSG00000182197,ENST00000436216,,EXT1,0.63,possibly_damaging,0.467,deleterious,0.03,4.12526,21.3,Q16394_R130C,R,C,130,RC,R130C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00132287,0,0.0451126,0.879238
7975,Q16394,G,D,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,273267,6911,ENSG00000182197,ENST00000436216,,EXT1,0.63,probably_damaging,0.949,deleterious,0,5.32779,34,Q16394_G129D,G,D,129,GD,G129D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00132889,0,0.0453178,0.903207
7990,O43525,D,G,185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,271791,46327,ENSG00000184156,ENST00000521134,CCDS56554.1,KCNQ3,0.25,probably_damaging,0.998,deleterious,0,4.55662,24.7,O43525_D185G,D,G,185,DG,D185G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.000454298,0,0.0154925,0.983875
8031,Q8TDN2,G,D,459,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,11963,573,ENSG00000168263,ENST00000382082,CCDS6447.1,KCNV2,0.84,probably_damaging,0.999,deleterious,0,4.99473,29.3,Q8TDN2_G459D,G,D,459,GD,G459D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.763,-3.324,2.561,,,,,,,,,0.00244951,0,0.0835333,0.786089
8039,Q5H8C1,G,S,1441,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,141,222,ENSG00000164946,ENST00000380881,,FREM1,0.66,possibly_damaging,0.719,deleterious,0,4.08622,21,Q5H8C1_G1441S,G,S,1441,GS,G1441S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,,,,0.954663
8086,Q9UBQ7,R,X,99,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.07,,,,,,,,,3820,106,ENSG00000137106,ENST00000377824,,GRHPR,0.25,,,,,5.80467,36,Q9UBQ7_R99X,R,X,99,RX,R99X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00670152,0,0.228536,0.922583
8117,Q16595,R,C,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,26215,175,ENSG00000165060,ENST00000484259,,FXN,0.59,probably_damaging,0.911,deleterious,0,4.10348,21.1,Q16595_R63C,R,C,63,RC,R63C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00528032,0.0136054,0.18007,0.907423
8118,Q16595,R,P,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,26216,174,ENSG00000165060,ENST00000484259,,FXN,0.59,probably_damaging,0.925,deleterious,0,4.03428,20.7,Q16595_R63P,R,P,63,RP,R63P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00528032,0.0136054,0.18007,0.920488
8119,Q16595,L,F,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,26266,124,ENSG00000165060,ENST00000484259,,FXN,0.75,probably_damaging,0.95,deleterious,0,3.87077,19.67,Q16595_L80F,L,F,80,LF,L80F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,0.00532892,0.00769231,0.181727,0.964052
8120,Q16595,L,H,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,26267,123,ENSG00000165060,ENST00000484259,,FXN,0.75,probably_damaging,0.976,deleterious,0,4.01379,20.6,Q16595_L80H,L,H,80,LH,L80H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,,,,,,,,,,,,0.00532892,0.00769231,0.181727,0.949191
8121,Q16595,H,R,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,26270,120,ENSG00000165060,ENST00000484259,,FXN,0.75,benign,0.006,tolerated,0.44,1.48913,10.93,Q16595_H81R,H,R,81,HR,H81R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00471835,0,0.160905,0.966992
8122,Q16595,L,R,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,26279,111,ENSG00000165060,ENST00000484259,,FXN,0.78,probably_damaging,0.96,deleterious,0,3.37425,17.38,Q16595_L84R,L,R,84,LR,L84R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.399,-3.81,2.411,,,,,,2.923,,76.19,0.00482149,0.015873,0.164423,0.851389
8123,Q16595,L,R,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,26315,75,ENSG00000165060,ENST00000484259,,FXN,0.89,probably_damaging,0.96,deleterious,0,4.17223,21.6,Q16595_L96R,L,R,96,LR,L96R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.0066541,0,0.226919,0.938025
8144,Q01974,R,X,65,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.07,,,,,,,,,149800,14798,ENSG00000169071,ENST00000375715,,ROR2,0.09,,,,,8.35134,40,Q01974_R65X,R,X,65,RX,R65X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000559148,0,0.0190681,0.977351
8161,Q13635,T,M,1051,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,0.001,0.001,0.001,,,,,,1930,1619,ENSG00000185920,ENST00000375274,CCDS47995.1,PTCH1,0.73,possibly_damaging,0.63,deleterious,0.03,4.60166,25.1,Q13635_T1051M,T,M,1051,TM,T1051M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,,,,0.953797
8162,Q13635,V,G,907,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,192,3357,ENSG00000185920,ENST00000375274,CCDS47995.1,PTCH1,0.63,probably_damaging,0.994,deleterious,0,3.75534,19.07,Q13635_V907G,V,G,907,VG,V907G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,,,,,,,,,,,,,,,0.913364
8166,Q13635,Q,X,361,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,1322,723,ENSG00000185920,ENST00000331920,CCDS6714.1,PTCH1,0.25,,,,,9.12445,41,Q13635_Q361X,Q,X,361,QX,Q361X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8202,O95477,F,S,2009,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,139769,7467,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.89,possibly_damaging,0.901,deleterious,0,5.42537,35,O95477_F2009S,F,S,2009,FS,F2009S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.517,-3.422,1.905,,,,,,1.891,,77.05,0.00068196,0,0.0232562,0.910066
8206,O95477,D,N,1289,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,114084,33152,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.57,benign,0.231,tolerated,0.49,2.5168,14.38,O95477_D1289N,D,N,1289,DN,D1289N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.264,-2.905,1.641,,,,,,,,,0.000675604,0,0.0230395,0.921407
8224,O15146,V,M,790,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,0,0,0,,,,,,131967,253,ENSG00000030304,ENST00000374448,CCDS48005.1,MUSK,0.91,probably_damaging,0.999,deleterious,0,4.53685,24.5,O15146_V790M,V,M,790,VM,V790M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.201,-3.807,2.606,,,,,,,,,0.000756574,0,0.0258007,0.838531
8234,Q13049,D,N,487,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,11858,941,ENSG00000119401,ENST00000373983,CCDS6817.1,TRIM32,0.75,probably_damaging,0.998,deleterious,0.03,4.16235,21.5,Q13049_D487N,D,N,487,DN,D487N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.057,-3,1.943,,,,,,,,,0.00065831,0,0.0224497,0.903469
8255,P61764,V,D,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,47745,32683,ENSG00000136854,ENST00000373302,CCDS6874.1,STXBP1,0.14,probably_damaging,0.995,deleterious,0,4.89714,28.2,P61764_V84D,V,D,84,VD,V84D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.465,-3.6,2.135,,,,,,,,,0.00213259,0,0.0727257,0.821302
8301,Q9Y6A1,Q,X,129,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,100,15,ENSG00000130714,ENST00000419118,,POMT1,0.23,,,,,6.57179,37,Q9Y6A1_Q129X,Q,X,129,QX,Q129X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8303,Q9Y6A1,W,C,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,931,1230,ENSG00000130714,ENST00000419118,,POMT1,0.71,probably_damaging,0.958,deleterious,0,4.24384,22.1,Q9Y6A1_W408C,W,C,408,WC,W408C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,,,,0.890533
8404,O76039,Q,X,834,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.07,,,,,,,,,186186,25252,ENSG00000008086,ENST00000379989,CCDS14186.1,CDKL5,0.81,,,,,9.14198,41,O76039_Q834X,Q,X,834,QX,Q834X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8420,P08559,Y,N,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.07,,,,,,,,,111,27,ENSG00000131828,ENST00000540249,CCDS55382.1,PDHA1,0.59,probably_damaging,0.985,deleterious,0,4.95758,28.9,P08559_Y212N,Y,N,212,YN,Y212N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,,,,,,,,,,,,0.00463691,0,0.158128,0.914046
8422,P08559,R,G,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,131,268,ENSG00000131828,ENST00000422285,CCDS14192.1,PDHA1,0.67,probably_damaging,1,deleterious,0,3.62285,18.43,P08559_R263G,R,G,263,RG,R263G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.582,-3.04,1.458,0.009,H,A,0.91,-0.96,,,,0.00443682,0.00787402,0.151305,0.666708
8459,P51843,Y,X,399,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.05,,,,,,,,,3694,589,ENSG00000169297,ENST00000378970,CCDS14223.1,NR0B1,0.85,,,,,7.31096,39,P51843_Y399X,Y,X,399,YX,Y399X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0052626,0,0.179465,0.92735
8531,P04839,G,A,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,6800,941,ENSG00000165168,ENST00000536160,,CYBB,0.4,probably_damaging,0.998,deleterious,0,4.84628,27.6,P04839_G122A,G,A,122,GA,G122A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,,,,,,,,,,,,0.000997156,0,0.0340051,0.922085
8824,Q6W2J9,R,X,976,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.11,,,,,,,,,5550,514,ENSG00000183337,ENST00000397354,CCDS14250.1,BCOR,0.57,,,,,9.64513,42,Q6W2J9_R976X,R,X,976,RX,R976X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8910,P51795,L,R,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,12224,10684,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.27,probably_damaging,0.998,deleterious,0,4.56649,24.8,P51795_L200R,L,R,200,LR,L200R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.208,-3.668,2.46,,,,,,,,,0.000588086,0,0.0200549,0.814235
8914,P51795,W,X,343,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.08,,,,,,,,,17052,5856,ENSG00000171365,ENST00000307367,CCDS14328.1,CLCN5,0.46,,,,,8.15113,40,P51795_W343X,W,X,343,WX,W343X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00028458,0,0.00970477,0.956807
8955,P22557,C,Y,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,5434,5887,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.67,possibly_damaging,0.499,deleterious,0.01,3.77661,19.17,P22557_C382Y,C,Y,382,CY,C382Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00241585,0,0.0823856,0.949929
8959,P22557,Y,H,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,662,670,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.32,probably_damaging,0.996,deleterious,0,4.27719,22.3,P22557_Y186H,Y,H,186,YH,Y186H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.00209259,0,0.0713616,0.972003
8960,P22557,D,V,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,688,696,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.31,benign,0.113,deleterious,0.03,2.73484,15.11,P22557_D177V,D,V,177,DV,D177V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.00212499,0,0.0724667,0.961187
8981,P10275,L,P,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,142660,12388,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.38,probably_damaging,1,deleterious,0,3.5747,18.22,P10275_L146P,L,P,146,LP,L146P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.000942726,0,0.0321489,0.914219
8986,P10275,A,T,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,142791,12257,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.49,benign,0.055,deleterious,0.02,3.3666,17.35,P10275_A190T,A,T,190,AT,A190T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000657944,0,0.0224372,0.995499
8994,P10275,M,V,256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,152987,2061,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.66,possibly_damaging,0.564,deleterious,0,3.37019,17.36,P10275_M256V,M,V,256,MV,M256V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,0.000429251,0,0.0146384,0.992983
8995,P10275,W,X,265,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.04,,,,,,,,,153016,2032,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.68,,,,,5.65234,36,P10275_W265X,W,X,265,WX,W265X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000209294,0,0.00713735,0.956807
8996,P10275,Q,E,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,0.001,0,0.002,,,,,,153020,2028,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.69,benign,0.097,deleterious,0.03,3.31635,17.15,P10275_Q267E,Q,E,267,QE,Q267E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,,,,,,,,,,,,0.000344351,0,0.0117431,1.00526
8997,P10275,M,T,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,153048,2000,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.71,probably_damaging,0.932,deleterious,0,3.67112,18.66,P10275_M276T,M,T,276,MT,M276T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.00103323,0,0.0352353,0.923588
9044,P08034,V,L,13,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,538,217,ENSG00000169562,ENST00000447581,,GJB1,0.15,possibly_damaging,0.826,deleterious,0,4.11181,21.2,P08034_V13L,V,L,13,VL,V13L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.343,-2.633,1.29,0.45,.,b,0.11,1.69,3.219,,54.06,0.00153242,0,0.0522585,0.884825
9046,P08034,I,N,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,590,165,ENSG00000169562,ENST00000447581,,GJB1,0.36,probably_damaging,0.997,deleterious,0,3.25592,16.92,P08034_I30N,I,N,30,IN,I30N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.212,-3.94,2.728,0.436,H,A,1.09,-0.46,,,,0.00344704,0,0.117551,0.651743
9047,P08034,E,D,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,624,131,ENSG00000169562,ENST00000447581,,GJB1,0.49,probably_damaging,0.963,deleterious,0,2.96874,15.9,P08034_E41D,E,D,41,ED,E41D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.075,-2.611,1.536,,,,,,,,,0.00233394,0,0.0795921,0.903834
9048,P08034,S,P,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,646,109,ENSG00000169562,ENST00000447581,,GJB1,0.58,probably_damaging,0.978,deleterious,0.01,1.52476,11.05,P08034_S49P,S,P,49,SP,S49P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.277,-3.575,2.298,,,,,,1.521,,82.69,0.00371798,0,0.126791,0.875287
9067,P36021,S,X,448,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.01,,,,,,,,,105041,8074,ENSG00000147100,ENST00000276033,CCDS14426.1,SLC16A2,0.73,,,,,9.80058,42,P36021_S448X,S,X,448,SX,S448X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
9107,P00558,T,N,324,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.04,,,,,,,,,48,1109,ENSG00000102144,ENST00000537456,,PGK1,0.83,probably_damaging,0.971,deleterious,0,4.21646,21.9,P00558_T324N,T,N,324,TN,T324N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,,,,,,,,,,,,0.00399264,0,0.136157,0.96655
9119,P49335,R,S,330,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,1053,454,ENSG00000196767,ENST00000373200,CCDS14450.1,POU3F4,0.91,probably_damaging,1,deleterious,0,3.46774,17.76,P49335_R330S,R,S,330,RS,R330S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.398,-3.121,1.723,0.261,H,A,0.93,-1.19,,,,0.0024912,0,0.0849551,0.71355
9120,P49335,K,E,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.09,,,,,,,,,1063,444,ENSG00000196767,ENST00000373200,CCDS14450.1,POU3F4,0.93,probably_damaging,0.998,deleterious,0,3.97237,20.3,P49335_K334E,K,E,334,KE,K334E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.265,-2.725,1.46,0.685,H,A,1.3,-0.44,,,,0.00137648,0,0.0469406,0.83627
9172,P06280,R,W,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,662,226,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.83,probably_damaging,0.937,deleterious,0,2.19627,13.3,P06280_R356W,R,W,356,RW,R356W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.154,-5.211,3.057,0.145,.,A,1.67,-1,0.606,,81.82,0.00397796,0,0.135657,0.580123
9215,P60201,I,T,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0,,,,,,,,,105,66,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.63,benign,0.243,tolerated,0.15,2.18764,13.27,P60201_I152T,I,T,152,IT,I152T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.00440014,0.008,0.150054,0.955669
9343,P29400,G,X,684,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.01,,,,,,,,,19401,25377,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.4,,,,,10.2211,43,P29400_G684X,G,X,684,GX,G684X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,2.79e-05,0,0.000950316,0.97622
9344,P29400,G,E,687,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,19411,25367,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.41,,,deleterious,0,3.81338,19.36,P29400_G687E,G,E,687,GE,G687E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,2.78e-05,0,0.000948886,0.811426
9351,P29400,G,E,740,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,20544,24234,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.44,,,deleterious,0,3.33502,17.22,P29400_G740E,G,E,740,GE,G740E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,2.7e-05,0,0.00092212,0.811426
9355,P29400,G,R,763,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,24292,20486,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.45,,,deleterious,0,4.19526,21.8,P29400_G763R,G,R,763,GR,G763R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,2.67e-05,0,0.000909547,0.793499
9367,P29400,G,V,878,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,37890,6888,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.52,,,deleterious,0,3.99494,20.5,P29400_G878V,G,V,878,GV,G878V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,2.45e-05,0,0.000835932,0.806553
9390,P29400,G,V,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,3615,265,ENSG00000188153,ENST00000505728,,COL4A5,0.81,probably_damaging,0.98,deleterious,0,4.72414,26.3,P29400_G141V,G,V,141,GV,G141V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,2.48e-05,0,0.000845629,0.806553
9397,P29400,G,R,1107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.01,,,,,,,,,215521,42139,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.65,,,deleterious,0,3.43938,17.64,P29400_G1107R,G,R,1107,GR,G1107R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,1.77e-05,0,0.000602099,0.793499
9400,P29400,G,R,1161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,226640,31020,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.69,,,deleterious,0,3.89233,19.79,P29400_G1161R,G,R,1161,GR,G1161R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,1.52e-05,0,0.000517179,0.793499
9423,P29400,R,C,1416,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,0,0,0,0,,,,,4183,1441,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.84,probably_damaging,0.977,deleterious,0.03,3.81829,19.39,P29400_R1416C,R,C,1416,RC,R1416C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00508009,0,0.173241,0.909882
9427,P29400,G,S,1457,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,5658,35,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.86,probably_damaging,1,deleterious,0,5.55568,35,P29400_G1457S,G,S,1457,GS,G1457S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00461929,0.00438597,0.157527,0.953787
9453,O43602,T,R,203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,9863,70338,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.56,possibly_damaging,0.623,tolerated,0.06,4.29531,22.5,O43602_T203R,T,R,203,TR,T203R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,,,,,,,,,,,,0.000970989,0,0.0331127,0.910232
9457,O43602,R,G,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,816,74,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.25,probably_damaging,0.983,deleterious,0,3.50083,17.89,O43602_R89G,R,G,89,RG,R89G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00171455,0,0.0584696,0.889428
9459,O43602,A,S,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.12,,,,,,,,,762,128,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.2,possibly_damaging,0.78,deleterious,0.01,5.16519,32,O43602_A71S,A,S,71,AS,A71S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,,,,,,,,,,,,0.00027525,0,0.0093866,0.990508
9460,O43602,D,N,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.11,,,,,,,,,735,155,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.17,probably_damaging,0.997,deleterious,0.03,4.64426,25.5,O43602_D62N,D,N,62,DN,D62N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.000177214,0,0.00604335,1.00248
9500,Q6ZUT3,Q,X,201,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.03,,,,,,,,,8639,7753,ENSG00000165694,ENST00000298542,CCDS35397.1,FRMD7,0.28,,,,,6.73213,38,Q6ZUT3_Q201X,Q,X,201,QX,Q201X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000411558,0,0.014035,0.98231
9546,Q13642,C,F,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.05,,,,,,,,,2946,29,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,0.47,probably_damaging,1,deleterious,0,4.14637,21.4,Q13642_C132F,C,F,132,CF,C132F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.293,-3.844,2.551,,,,,,,,,0.000702472,0,0.0239557,0.80389
9635,P22304,R,X,232,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.09,,,,,,,,,7282,19,ENSG00000010404,ENST00000541269,,IDS,0.68,,,,,12.4482,46,P22304_R232X,R,X,232,RX,R232X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00297862,0,0.101577,0.951177
9636,P22304,C,G,211,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.08,,,,,,,,,7219,22,ENSG00000010404,ENST00000541269,,IDS,0.62,possibly_damaging,0.505,deleterious,0.01,3.69343,18.76,P22304_C211G,C,G,211,CG,C211G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,,,,,,,,,,,,0.00365921,0,0.124787,0.950553
9651,P22304,K,R,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,63,146,ENSG00000010404,ENST00000370443,,IDS,0.43,probably_damaging,0.999,deleterious,0,4.28488,22.4,P22304_K135R,K,R,135,KR,K135R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.083,-2.85,1.767,,,,,,,,,0.000325371,0,0.0110958,0.92278
9652,P22304,G,E,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.03,,,,,,,,,60,143,ENSG00000010404,ENST00000370443,,IDS,0.43,probably_damaging,1,deleterious,0,4.30509,22.6,P22304_G134E,G,E,134,GE,G134E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.999,-3.405,2.406,,,,,,3.103,,59.45,0.000795529,0,0.0271292,0.843643
9668,Q15738,R,X,88,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.07,,,,,,,,,19421,17230,ENSG00000147383,ENST00000440023,CCDS14717.1,NSDHL,0.24,,,,,5.04574,29.9,Q15738_R88X,R,X,88,RX,R88X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00506337,0,0.172671,0.935595
9803,O60832,L,P,398,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0,,,,,,,,,360,488,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.77,probably_damaging,0.995,deleterious,0,4.00732,20.5,O60832_L398P,L,P,398,LP,L398P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,0.226,S,B,1.07,1.19,,,,0.00330255,0,0.112624,0.719375
9804,O60832,G,R,402,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0,,,,,,,,,349,477,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.78,probably_damaging,0.993,deleterious,0,3.37755,17.39,O60832_G402R,G,R,402,GR,G402R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.322,S,l,0.91,1.19,,,,0.00207666,0,0.0708184,0.706608
9805,O60832,G,E,402,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0,,,,,,,,,348,476,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.78,probably_damaging,0.99,deleterious,0,3.31137,17.13,O60832_G402E,G,E,402,GE,G402E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,0.322,S,l,0.75,1.19,,,,0.00207666,0,0.0708184,0.722625
9814,Q05066,R,W,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.52,0.13,,,,,,,,,397,103,ENSG00000184895,ENST00000534739,,SRY,0.81,probably_damaging,0.999,deleterious,0,1.83553,12.1,Q05066_R133W,R,W,133,RW,R133W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.565,-5.203,3.638,,,,,,0.176,,48.04,0.0016579,0,0.0565379,0.819932
9825,Q05066,W,X,70,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.52,0.12,,,,,,,,,209,291,ENSG00000184895,ENST00000534739,,SRY,0.42,,,,,1.60257,11.32,Q05066_W70X,W,X,70,WX,W70X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00123714,0,0.0421891,0.881419
10,Q9UBQ7,R,K,248,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.53,0.01,0.047,0.136,0.001,0.05,,0.02,0.22,,869,1360,ENSG00000137106,ENST00000377824,,GRHPR,0.63,benign,0.042,deleterious,0,3.16267,16.58,Q9UBQ7_R248K,R,K,248,RK,R248K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,,,,,,,,,,,,0.00517847,0,0.204797,0.961209
30,Q9HC10,A,V,53,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.53,0.08,0.004,0.005,0.003,0.11,0.31,0.17,0.002,0.01,30778,70697,ENSG00000115155,ENST00000403946,,OTOF,0.03,benign,0.101,tolerated,0.14,2.64655,14.81,Q9HC10_A53V,A,V,53,AV,A53V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.674,-3.469,1.795,1.117,S,A,0.44,1.41,2.274,,92.54,,,,0.909201
57,Q96SN8,A,V,190,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.53,0.08,,,,,,,,,28,8559,ENSG00000136861,ENST00000349780,CCDS6823.1,CDK5RAP2,0.1,possibly_damaging,0.51,tolerated,0.26,3.4212,17.56,Q96SN8_A190V,A,V,190,AV,A190V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.697,-2.475,0.778,,,,,,15.673,15.673,76.07,,,,0.963693
129,Q30201,V,M,53,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.53,0.07,0,0,0,0.001,,,0.002,,3482,2062,ENSG00000010704,ENST00000470149,,HFE,0.15,possibly_damaging,0.898,deleterious,0,3.93362,20.1,Q30201_V53M,V,M,53,VM,V53M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.137,-2.685,1.548,,E,B,0.11,-0.44,11.171,11.171,71.84,0.00264821,0,0.104731,0.857458
281,P18577,A,P,210,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.53,0.01,0.141,0.115,0.154,0.16,0.22,0.18,0.08,0.16,11829,5163,ENSG00000188672,ENST00000374352,,RHCE,0.52,benign,0.341,deleterious,0.03,2.06129,12.85,P18577_A210P,A,P,210,AP,A210P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00152421,0,0.0602792,0.925827
44,Q9Y5Z9,N,S,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,54,14599,ENSG00000120942,ENST00000376804,,UBIAD1,0.57,probably_damaging,0.997,tolerated,0.1,4.08781,21,Q9Y5Z9_N102S,N,S,102,NS,N102S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.602,-3.001,1.399,,,,,,3.131,,74.26,0.00187292,0,0.0638706,0.970389
46,Q9Y5Z9,R,G,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.12,,,,,,,,,4,14549,ENSG00000120942,ENST00000376804,,UBIAD1,0.66,probably_damaging,0.997,tolerated,0.25,3.16608,16.59,Q9Y5Z9_R119G,R,G,119,RG,R119G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.555,-3.169,1.614,,,,,,3.19,,74.26,0.00417925,0,0.142521,0.922539
123,P29323,Q,X,717,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.05,,,,,,,,,132802,5764,ENSG00000133216,ENST00000374627,,EPHB2,0.76,,,,,7.12859,38,P29323_Q717X,Q,X,717,QX,Q717X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000530078,0,0.0180767,0.98231
194,P11166,Y,X,449,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.08,,,,,,,,,4034,377,ENSG00000117394,ENST00000426263,CCDS477.1,SLC2A1,0.91,,,,,7.19598,38,P11166_Y449X,Y,X,449,YX,Y449X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00479362,0,0.163472,0.931534
229,P06132,M,R,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,123,29,ENSG00000126088,ENST00000434478,,UROD,0.74,probably_damaging,0.961,deleterious,0,4.11337,21.2,P06132_M144R,M,R,144,MR,M144R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,0.0050986,0,0.173873,0.953614
256,P23786,D,N,553,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,501,825,ENSG00000157184,ENST00000371486,CCDS575.1,CPT2,0.84,probably_damaging,0.992,deleterious,0.03,5.57497,35,P23786_D553N,D,N,553,DN,D553N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.985,-3.04,2.055,0.043,H,A,0.14,-0.98,,,,0.00196138,0,0.0668872,0.659482
356,P26439,E,K,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,0,0,0,,,,,,4512,99,ENSG00000203859,ENST00000543831,CCDS902.1,HSD3B2,0.38,probably_damaging,0.956,deleterious,0,3.10927,16.39,P26439_E142K,E,K,142,EK,E142K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.972,-2.882,1.91,,,,,,,,,0.00161208,0,0.0549754,0.82121
405,O00165,R,X,86,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.08,,,,,,,,,332,1735,ENSG00000143575,ENST00000328703,CCDS1064.1,HAX1,0.31,,,,,6.61609,37,O00165_R86X,R,X,86,RX,R86X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
503,P25189,P,T,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,57,974,ENSG00000158887,ENST00000360451,,MPZ,0.45,probably_damaging,0.976,deleterious,0.04,4.45453,23.8,P25189_P115T,P,T,115,PT,P115T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,0.00270126,0,0.0921186,0.970517
505,P25189,R,P,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,37,994,ENSG00000158887,ENST00000360451,,MPZ,0.42,probably_damaging,1,deleterious,0,4.59763,25,P25189_R108P,R,P,108,RP,R108P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.0030849,0,0.105201,0.936486
506,P25189,R,H,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,37,994,ENSG00000158887,ENST00000360451,,MPZ,0.42,probably_damaging,0.999,deleterious,0,4.9865,29.2,P25189_R108H,R,H,108,RH,R108H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.0030849,0,0.105201,0.975921
509,P25189,K,E,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,30,1001,ENSG00000158887,ENST00000360451,,MPZ,0.41,benign,0.236,deleterious,0,3.21355,16.76,P25189_K106E,K,E,106,KE,K106E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.0038102,0,0.129936,0.966806
510,P25189,H,R,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,15,1045,ENSG00000158887,ENST00000360451,,MPZ,0.35,benign,0.015,deleterious,0,3.06823,16.24,P25189_H91R,H,R,91,HR,H91R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00360922,0,0.123082,0.978775
512,P25189,D,V,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,204,1399,ENSG00000158887,ENST00000360451,,MPZ,0.33,probably_damaging,0.926,deleterious,0.03,4.29044,22.4,P25189_D85V,D,V,85,DV,D85V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.00329713,0,0.112439,0.95309
524,O60806,M,R,19,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,53,23212,ENSG00000143178,ENST00000431969,,TBX19,0.06,probably_damaging,0.923,deleterious,0.02,3.88908,19.77,O60806_M19R,M,R,19,MR,M19R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,,,,0.952302
529,O60779,G,D,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,8462,13538,ENSG00000117479,ENST00000367802,,SLC19A2,0.37,possibly_damaging,0.887,deleterious,0,5.16088,32,O60779_G172D,G,D,172,GD,G172D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.985,-3.279,2.294,,,,,,4.495,,91.75,0.00313997,0,0.10708,0.862928
683,P45379,D,N,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,3715,391,ENSG00000118194,ENST00000367318,CCDS30969.1,TNNT2,0.94,possibly_damaging,0.768,deleterious,0,4.36058,23,P45379_D270N,D,N,270,DN,D270N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.0054243,0,0.18498,0.960081
768,Q99698,A,D,1454,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,75040,308,ENSG00000143669,ENST00000389793,CCDS31062.1,LYST,0.38,probably_damaging,0.999,deleterious,0.04,5.08421,31,Q99698_A1454D,A,D,1454,AD,A1454D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.013,-3.511,2.498,,,,,,,,,,,,0.771231
775,Q8WWZ3,E,K,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,711,136,ENSG00000186197,ENST00000359362,CCDS31065.1,EDARADD,0.69,probably_damaging,0.996,deleterious,0,4.31467,22.6,Q8WWZ3_E142K,E,K,142,EK,E142K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
1066,Q9UMD9,L,X,855,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.05,,,,,,,,,44477,10240,ENSG00000065618,ENST00000353479,CCDS7554.1,COL17A1,0.57,,,,,9.11556,41,Q9UMD9_L855X,L,X,855,LX,L855X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
1106,P04181,H,Y,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,1552,54,ENSG00000065154,ENST00000539214,CCDS53586.1,OAT,0.6,possibly_damaging,0.665,deleterious,0,2.88323,15.61,P04181_H181Y,H,Y,181,HY,H181Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.00278555,0,0.094993,0.966735
1200,P68871,L,P,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,1126,43,ENSG00000244734,ENST00000335295,CCDS7753.1,HBB,0.78,probably_damaging,0.987,deleterious,0,2.83974,15.46,P68871_L115P,L,P,115,LP,L115P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.665,-3.965,2.3,,H,A,1.07,-0.58,1.443,,78.23,0.00584765,0,0.199417,0.605821
1213,P68871,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.53,0.03,,,,,,,,,105,308,ENSG00000244734,ENST00000335295,CCDS7753.1,HBB,,,,,,3.75812,19.08,P68871_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1230,P02042,A,S,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,0.001,0.001,0.002,0.001,,,,0.003,132,359,ENSG00000223609,ENST00000292901,,HBD,0.2,probably_damaging,0.916,deleterious,0.03,4.02884,20.7,P02042_A28S,A,S,28,AS,A28S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.38,-2.127,0.747,0.029,H,A,0.27,-0.98,12.866,12.866,76.87,0.00566734,0,0.193268,0.867498
1309,Q9Y345,Y,X,377,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.01,,,,,,,,,18161,37136,ENSG00000165970,ENST00000525748,CCDS7854.1,SLC6A5,0.47,,,,,7.07116,38,Q9Y345_Y377X,Y,X,377,YX,Y377X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00183106,0,0.0624429,0.954408
1345,P19544,F,L,451,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,25545,3011,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.87,probably_damaging,0.995,deleterious,0,5.44364,35,P19544_F451L,F,L,451,FL,F451L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,,,,0.940953
1351,P19544,C,Y,398,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,4303,54,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.77,probably_damaging,0.999,deleterious,0,5.25591,33,P19544_C398Y,C,Y,398,CY,C398Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00804129,0,0.274224,0.9149
1430,P27352,S,L,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,1502,1531,ENSG00000134812,ENST00000257248,CCDS7977.1,GIF,0.11,possibly_damaging,0.717,deleterious,0.01,4.29868,22.5,P27352_S46L,S,L,46,SL,S46L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.146,-3.175,2.029,0.328,T,A,0.82,-0.64,,,,0.00275505,0,0.0939528,0.686224
1448,Q96G97,R,X,202,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.05,,,,,,,,,118,7,ENSG00000168000,ENST00000524862,,BSCL2,0.89,,,,,4.87865,28,Q96G97_R202X,R,X,202,RX,R202X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00339023,0,0.115614,0.951177
1572,P50416,R,G,68,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,5933,7592,ENSG00000110090,ENST00000538994,,CPT1A,0.87,probably_damaging,1,deleterious,0,3.47328,17.78,P50416_R68G,R,G,68,RG,R68G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00116375,0,0.0396861,0.885811
1618,P15328,C,X,175,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.03,,,,,,,,,3803,371,ENSG00000110195,ENST00000393679,CCDS8211.1,FOLR1,0.68,,,,,3.79405,19.26,P15328_C175X,C,X,175,CX,C175X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00362336,0,0.123564,0.953637
1657,Q9ULV1,C,R,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0,,,,,,,,,3177,479,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.34,probably_damaging,0.981,tolerated,0.13,3.2374,16.85,Q9ULV1_C181R,C,R,181,CR,C181R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.602,-3.888,2.286,,,,,,1.172,,50.47,0.0020893,0,0.0712495,0.829343
1812,P08397,G,R,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,1115,8,ENSG00000256269,ENST00000539986,,HMBS,0.5,probably_damaging,1,deleterious,0,5.77177,36,P08397_G94R,G,R,94,GR,G94R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00140716,0,0.0479872,0.897226
1899,Q09470,V,L,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,2223,5648,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.82,possibly_damaging,0.477,deleterious,0,4.05706,20.8,Q09470_V408L,V,L,408,VL,V408L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.304,-2.419,1.115,0.7,H,A,0.11,-0.17,,,,0.00102605,0,0.0349905,0.904267
2043,P02458,G,R,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,10847,20068,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.21,,,deleterious,0,3.86447,19.63,P02458_G318R,G,R,318,GR,G318R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,0,,,,8.01e-05,0,0.00273124,0.638001
2045,P02458,R,C,275,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,10281,20634,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.18,,,deleterious,0,3.02947,16.11,P02458_R275C,R,C,275,RC,R275C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,0,,,,0.000321851,0,0.0109758,0.661553
2058,Q71U36,R,C,387,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,1763,92,ENSG00000167552,ENST00000550767,,TUBA1A,0.93,probably_damaging,0.975,,,2.37347,13.89,Q71U36_R387C,R,C,387,RC,R387C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00171384,0,0.0584454,0.890629
2129,P04264,K,I,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,280,5392,ENSG00000167768,ENST00000252244,CCDS8836.1,KRT1,0.11,,,deleterious,0,1.85431,12.16,P04264_K74I,K,I,74,KI,K74I,PositiveCharge,Hydrophobic,9.74,6.02,-3.72,146,131,-15,168.6,166.7,-1.9,102,-2.051,-3.801,1.75,,,,,,5.057,,75.47,,,,0.906087
2152,Q9UBC5,G,E,662,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,0.027,0.006,0.038,0.01,,0.01,0.002,0.03,1823,821,ENSG00000166866,ENST00000300119,CCDS8929.1,MYO1A,0.63,benign,0.01,tolerated,1,-0.463463,1.858,Q9UBC5_G662E,G,E,662,GE,G662E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.757,-2.174,0.417,,,,,,25.975,25.975,87.44,0.000944371,0,0.032205,1.00682
2224,P00439,P,L,244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,490,9212,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.54,probably_damaging,1,deleterious,0,5.40214,34,P00439_P244L,P,L,244,PL,P244L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,0.023,E,B,1.07,-0.66,,,,0.000358273,0,0.0122178,0.607368
2325,Q14232,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.53,0.04,0,0,0,0.001,,,,0.001,2052,162,ENSG00000111361,ENST00000537073,,EIF2B1,,,,,,3.52279,17.99,Q14232_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
2348,P29033,E,X,47,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.08,,,,,,,,,338,1971,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.21,,,,,7.05656,38,P29033_E47X,E,X,47,EX,E47X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00319893,0,0.10909,0.953272
2351,P29033,R,H,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,294,2015,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.14,probably_damaging,1,deleterious,0,3.77142,19.15,P29033_R32H,R,H,32,RH,R32H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.02,-3.1,2.08,0.009,H,A,1.03,-0.69,17.232,17.232,53.1,0.000588964,0,0.0200849,0.663416
2353,P29033,S,T,19,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,255,2054,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.08,benign,0.279,tolerated,0.24,2.24641,13.47,P29033_S19T,S,T,19,ST,S19T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-2.029,-3.543,1.514,0.224,S,a,0.05,1.74,3.767,,79.65,0.00570525,0,0.194561,0.915404
2354,P29033,S,F,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,249,2060,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.08,probably_damaging,0.984,deleterious,0,4.24985,22.1,P29033_S17F,S,F,17,SF,S17F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-0.939,-4.142,3.203,0.288,.,B,0.85,1.94,3.295,,65.49,0.0015947,0,0.0543826,0.71569
2434,P35670,W,X,779,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.05,,,,,,,,,3587,36,ENSG00000123191,ENST00000418097,,ATP7B,0.56,,,,,6.72032,38,P35670_W779X,W,X,779,WX,W779X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000455482,0,0.0155329,0.956807
2435,P35670,W,X,779,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.05,0,0,0,,,,,,3586,35,ENSG00000123191,ENST00000418097,,ATP7B,0.56,,,,,6.72039,38,P35670_W779X,W,X,779,WX,W779X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000455482,0,0.0155329,0.956807
2488,P00491,D,G,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,1486,39,ENSG00000198805,ENST00000553591,,PNP,0.76,probably_damaging,0.998,deleterious,0,5.01672,29.6,P00491_D167G,D,G,167,DG,D167G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.611,-3.242,1.631,0.232,.,b,0.46,0.23,24.523,24.523,91.7,0.00697185,0,0.237754,0.898617
2516,P12883,E,K,924,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,11660,11321,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.48,probably_damaging,0.995,deleterious,0,5.47648,35,P12883_E924K,E,K,924,EK,E924K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.000103741,0,0.00353778,0.924394
2517,P12883,L,V,908,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,11612,11369,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.47,probably_damaging,0.997,deleterious,0,3.62849,18.46,P12883_L908V,L,V,908,LV,L908V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.208,-2.589,1.381,,,,,,,,,0.000142356,0,0.00485464,0.930178
2528,P12883,V,M,606,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,8062,14919,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.31,probably_damaging,0.907,deleterious,0,2.66285,14.86,P12883_V606M,V,M,606,VM,V606M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.488,-3.807,2.319,,,,,,2.994,,81.09,0.000266674,0,0.00909413,0.888384
2538,P12883,M,T,349,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,5852,17129,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.18,benign,0.03,deleterious,0.01,1.11644,9.553,P12883_M349T,M,T,349,MT,M349T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.41,-3.192,0.782,,,,,,4.288,,92.92,0.000368619,0,0.0125707,0.992879
2657,Q96NR8,L,I,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,0,0,0,0.001,,0.01,,,2733,9245,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.31,probably_damaging,0.999,deleterious,0,2.9226,15.74,Q96NR8_L99I,L,I,99,LI,L99I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,-1.039,-2.702,1.663,,,,,,,,,0.000495907,0,0.0169115,0.92445
2724,P16473,M,T,453,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,26999,2887,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.59,probably_damaging,0.996,deleterious,0,3.66139,18.61,P16473_M453T,M,T,453,MT,M453T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.052,-3.634,2.582,,,,,,3.537,,89.14,0.00054458,0,0.0185713,0.877258
2828,Q9NRD8,R,W,376,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,0,0,0,,,,,,3560,10866,ENSG00000140279,ENST00000389039,CCDS10117.1,DUOX2,0.24,probably_damaging,0.995,deleterious,0,4.60379,25.1,Q9NRD8_R376W,R,W,376,RW,R376W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,,,,0.757477
2883,Q02750,G,V,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.09,,,,,,,,,50000,8130,ENSG00000169032,ENST00000307102,CCDS10216.1,MAP2K1,0.33,probably_damaging,0.998,deleterious,0,5.0226,29.6,Q02750_G128V,G,V,128,GV,G128V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.008,-3.435,2.427,,,,,,,,,0.0033934,0,0.115722,0.771568
2898,P06865,G,S,465,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,407,61,ENSG00000213614,ENST00000566304,,HEXA,0.86,probably_damaging,0.988,deleterious,0,5.73307,36,P06865_G465S,G,S,465,GS,G465S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00354543,0,0.120907,0.96591
2906,P06865,D,H,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,9903,30,ENSG00000213614,ENST00000566304,,HEXA,0.5,probably_damaging,0.999,deleterious,0,5.31887,34,P06865_D269H,D,H,269,DH,D269H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,,,,,,,,,,,,0.00383706,0,0.130852,0.964243
2940,P34949,S,L,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,989,566,ENSG00000178802,ENST00000352410,CCDS10272.1,MPI,0.24,probably_damaging,0.999,deleterious,0,5.231,33,P34949_S102L,S,L,102,SL,S102L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.146,-3.175,2.029,,,,,,,,,0.00167705,0,0.0571907,0.752526
2991,P48735,R,Q,10,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,11994,4525,ENSG00000182054,ENST00000539790,,IDH2,0.03,probably_damaging,1,deleterious,0,3.6044,18.35,P48735_R10Q,R,Q,10,RQ,R10Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
3066,P80404,R,K,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.09,,,,,,,,,2463,599,ENSG00000183044,ENST00000425191,CCDS10534.1,ABAT,0.44,possibly_damaging,0.884,deleterious,0,5.86294,36,P80404_R220K,R,K,220,RK,R220K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,-1.398,-2.517,1.119,0.051,S,A,1.14,0.02,,,,0.000757497,0,0.0258322,0.77727
3277,P15735,V,E,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,901,213,ENSG00000156873,ENST00000563588,CCDS10690.1,PHKG2,0.26,probably_damaging,0.997,deleterious,0,4.75489,26.6,P15735_V106E,V,E,106,VE,V106E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.201,-3.442,2.241,,E,B,1.48,-1.46,,,,0.00147918,0,0.0504431,0.481904
3278,P15735,H,Y,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,202,120,ENSG00000156873,ENST00000561712,,PHKG2,0.47,probably_damaging,1,deleterious,0,5.1148,32,P15735_H37Y,H,Y,37,HY,H37Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.00219229,0,0.0747615,0.976022
3321,P08253,R,H,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,1500,2296,ENSG00000087245,ENST00000543485,,MMP2,0.04,benign,0.351,deleterious,0.02,4.44221,23.7,P08253_R25H,R,H,25,RH,R25H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000135651,0,0.00462597,1.00329
3511,P04637,V,L,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,219,271,ENSG00000141510,ENST00000420246,CCDS45606.1,TP53,0.8,probably_damaging,0.982,deleterious,0,4.64555,25.5,P04637_V272L,V,L,272,VL,V272L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.084,-3.051,1.967,0.017,E,B,0.11,0,2.428,,66.16,0.00242957,0,0.0828535,0.76678
3535,Q9BYJ1,L,M,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,0.003,0.001,0.004,0.001,,,,0.004,6322,15793,ENSG00000179148,ENST00000448843,CCDS11130.1,ALOXE3,0.33,possibly_damaging,0.599,deleterious,0.03,2.68748,14.95,Q9BYJ1_L237M,L,M,237,LM,L237M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,-1.562,-2.693,1.131,,,,,,7.882,7.882,88.61,0.00154981,0,0.0528517,0.989013
3557,Q01453,S,L,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,4822,234,ENSG00000109099,ENST00000426385,,PMP22,0.58,,,,,3.43907,17.64,Q01453_S72L,S,L,72,SL,S72L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.363,-3.129,1.766,,,,,,1.898,,31.87,0.00845086,0,0.288192,0.801686
3641,P35527,L,F,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,544,5671,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.26,probably_damaging,0.939,deleterious,0,2.61765,14.71,P35527_L160F,L,F,160,LF,L160F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.175,-2.433,1.258,,,,,,20.541,20.541,55.86,0.000395492,0,0.0134871,0.958178
3642,P35527,L,V,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,544,5671,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.26,probably_damaging,0.995,deleterious,0,2.42642,14.07,P35527_L160V,L,V,160,LV,L160V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.175,-2.973,1.798,,,,,,2.895,,55.86,0.000395492,0,0.0134871,0.939405
3780,P05106,L,P,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,32413,5178,ENSG00000259207,ENST00000435993,,ITGB3,0.23,probably_damaging,1,deleterious,0,4.36566,23,P05106_L175P,L,P,175,LP,L175P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.268,-4.004,2.736,0.146,E,B,1.07,-0.43,0.53,,47.84,0.000599779,0,0.0204537,0.552509
3782,P05106,R,Q,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,32467,5124,ENSG00000259207,ENST00000435993,,ITGB3,0.26,possibly_damaging,0.895,tolerated,0.2,4.73718,26.4,P05106_R193Q,R,Q,193,RQ,R193Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00131912,0,0.0449847,0.918197
3837,P02452,G,C,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0,,,,,,,,,66,141,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.19,,,deleterious,0,3.76556,19.12,P02452_G272C,G,C,272,GC,G272C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.921,-4.823,3.902,,,,,0,,,,2.39e-05,0,0.000814261,0.646273
3839,P02452,G,E,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,458,533,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.17,,,deleterious,0,4.12651,21.3,P02452_G254E,G,E,254,GE,G254E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,,,,,0,,,,2.41e-05,0,0.000820783,0.658012
3867,P22748,R,H,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,6712,2889,ENSG00000167434,ENST00000300900,CCDS11624.1,CA4,0.22,benign,0.001,tolerated,0.23,0.447445,6.43,P22748_R69H,R,H,69,RH,R69H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.425,-2.55,0.125,0.615,.,B,1.03,0.94,32.68,32.68,92.31,0.00517486,0,0.176473,0.976814
3882,P35499,M,V,1592,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,31411,2954,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.87,probably_damaging,0.993,deleterious,0,3.47571,17.79,P35499_M1592V,M,V,1592,MV,M1592V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.194,-2.88,1.686,,,,,,2.649,,48.75,0.00015026,0,0.00512417,0.944542
3884,P35499,I,F,1495,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.12,,,,,,,,,31120,3245,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.81,probably_damaging,0.992,deleterious,0,4.05,20.8,P35499_I1495F,I,F,1495,IF,I1495F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.141,-3.665,2.524,,,,,,5.054,,92.32,0.000160731,0,0.00548127,0.885377
3916,P63252,R,W,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,5703,1086,ENSG00000123700,ENST00000535240,CCDS11688.1,KCNJ2,0.16,probably_damaging,1,deleterious,0,2.83596,15.45,P63252_R67W,R,W,67,RW,R67W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.744,H,A,1.67,1.32,,,,0.000665162,0,0.0226834,0.792516
4026,O15118,A,T,1054,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.11,,,,,,,,,23585,4812,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.82,probably_damaging,0.994,deleterious,0,4.93272,28.6,O15118_A1054T,A,T,1054,AT,A1054T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.148,-2.961,1.813,,,,,,9.005,9.005,24.18,0.00109263,0,0.0372609,0.903065
4027,O15118,T,M,1036,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,23532,4865,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.81,probably_damaging,0.997,deleterious,0,4.23274,22,O15118_T1036M,T,M,1036,TM,T1036M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.466,-4.863,3.397,,,,,,1.35,,90.22,0.00115731,0,0.0394665,0.862663
4028,O15118,A,V,1035,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,23529,4868,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.81,probably_damaging,0.981,deleterious,0,4.75261,26.6,O15118_A1035V,A,V,1035,AV,A1035V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.252,-3.083,1.831,,,,,,10.807,10.807,68,0.000934011,0,0.0318517,0.947511
4038,O15118,V,A,378,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,3907,16706,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.3,possibly_damaging,0.754,deleterious,0,3.31299,17.14,O15118_V378A,V,A,378,VA,V378A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.278,-2.372,1.094,,,,,,10.267,10.267,85.37,0.000791858,0,0.027004,0.983479
4039,O15118,C,Y,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,25027,21731,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.14,probably_damaging,0.977,deleterious,0,4.92478,28.5,O15118_C177Y,C,Y,177,CY,C177Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.276,-4.565,3.289,,S,A,0.25,-0.17,1.848,,87.01,0.000479266,0,0.016344,0.690942
4062,P02766,F,I,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,1106,563,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.36,possibly_damaging,0.724,deleterious,0.04,3.61012,18.37,P02766_F53I,F,I,53,FI,F53I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,-2.209,-3.634,1.425,0.189,E,B,0.1,-0.45,6.834,6.834,83.67,0.0126827,0,0.432505,0.884845
4063,P02766,F,L,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,1106,563,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.36,possibly_damaging,0.604,tolerated,0.07,3.40173,17.49,P02766_F53L,F,L,53,FL,F53L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-2.209,-2.277,0.068,0.189,E,B,0.03,-0.45,20.436,20.436,83.67,0.0126827,0,0.432505,0.959398
4198,P06213,R,Q,1201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,173324,8422,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.87,probably_damaging,0.999,deleterious,0,5.05374,30,P06213_R1201Q,R,Q,1201,RQ,R1201Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.098,G,A,0.56,-0.82,,,,0.000734681,0,0.0250541,0.702127
4280,Q92947,A,V,421,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.09,,,,,,,,,8320,483,ENSG00000105607,ENST00000222214,CCDS12286.1,GCDH,0.96,probably_damaging,0.916,deleterious,0,5.18744,32,Q92947_A421V,A,V,421,AV,A421V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,0.243,H,A,0.44,-0.82,,,,0.00978301,0,0.333621,0.757902
4367,P14854,R,H,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,2477,7425,ENSG00000126267,ENST00000392201,,COX6B1,0.36,benign,0.152,tolerated,0.06,3.94357,20.2,P14854_R37H,R,H,37,RH,R37H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
4491,P06870,R,H,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,0.057,0.097,0.036,0.04,,0.05,0.1,0.03,3368,1272,ENSG00000167748,ENST00000301420,CCDS12804.1,KLK1,0.29,possibly_damaging,0.492,tolerated,0.06,2.65067,14.82,P06870_R77H,R,H,77,RH,R77H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.002,-4.506,2.504,0.081,.,B,1.03,-0.4,1.317,,64.5,0.00508386,0,0.17337,0.56008
4543,O15232,R,W,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,6493,13136,ENSG00000132031,ENST00000407540,CCDS46226.1,MATN3,0.25,probably_damaging,1,deleterious,0,3.46727,17.75,O15232_R121W,R,W,121,RW,R121W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.101,-5.178,4.077,,,,,,,,,0.000754569,0,0.0257324,0.788028
4588,Q9UI10,Y,H,488,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,576,108,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.93,probably_damaging,0.95,deleterious,0.04,4.13949,21.4,Q9UI10_Y488H,Y,H,488,YH,Y488H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.00668353,0,0.227922,0.941317
4589,Q9UI10,R,W,482,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,558,126,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.92,probably_damaging,0.955,deleterious,0.01,3.94582,20.2,Q9UI10_R482W,R,W,482,RW,R482W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.0062918,0,0.214563,0.928472
4637,Q9H222,R,P,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.11,,,,,,,,,14770,11138,ENSG00000138075,ENST00000405322,,ABCG5,0.52,probably_damaging,0.996,deleterious,0,3.61782,18.41,Q9H222_R248P,R,P,248,RP,R248P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,,,,0.914096
4638,Q9H222,R,H,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.11,0,0,0,,,,,,14770,11138,ENSG00000138075,ENST00000405322,,ABCG5,0.52,probably_damaging,0.996,deleterious,0,4.00786,20.5,Q9H222_R248H,R,H,248,RH,R248H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
4639,Q9H222,R,X,237,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.12,,,,,,,,,14736,11172,ENSG00000138075,ENST00000405322,,ABCG5,0.49,,,,,9.01089,41,Q9H222_R237X,R,X,237,RX,R237X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4642,Q9H222,E,X,77,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.04,,,,,,,,,881,25027,ENSG00000138075,ENST00000260645,CCDS1814.1,ABCG5,0.12,,,,,7.02208,38,Q9H222_E77X,E,X,77,EX,E77X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
4646,Q9H221,W,X,361,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.07,0.001,0.001,0.001,,,,,,33130,6373,ENSG00000143921,ENST00000272286,CCDS1815.1,ABCG8,0.54,,,,,4.51199,24.3,Q9H221_W361X,W,X,361,WX,W361X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00246057,0,0.0839104,0.940601
4647,Q9H221,R,X,412,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.08,,,,,,,,,34845,4658,ENSG00000143921,ENST00000272286,CCDS1815.1,ABCG8,0.61,,,,,6.31628,37,Q9H221_R412X,R,X,412,RX,R412X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00142948,0,0.0487483,0.900587
4742,P38435,W,S,501,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,2606,561,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.66,possibly_damaging,0.726,deleterious,0.03,3.70547,18.82,P38435_W501S,W,S,501,WS,W501S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.301,-3.571,2.27,,,,,,,,,0.000998976,0,0.0340672,0.702198
4743,P38435,W,S,493,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,1861,537,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.65,probably_damaging,0.998,deleterious,0,3.9194,19.94,P38435_W493S,W,S,493,WS,W493S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.301,-3.571,2.27,,,,,,,,,0.00114217,0,0.0389502,0.702198
4744,P38435,R,P,485,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,1837,513,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.64,possibly_damaging,0.825,deleterious,0.04,3.30055,17.09,P38435_R485P,R,P,485,RP,R485P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.612,-3.72,2.108,,,,,,1.462,,80.21,0.00131622,0,0.0448858,0.863996
4751,P38435,V,M,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,256,576,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.34,probably_damaging,0.999,deleterious,0,4.99538,29.3,P38435_V255M,V,M,255,VM,V255M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.201,-3.807,2.606,,,,,,,,,0.0010057,0,0.0342964,0.763038
4790,Q12866,R,X,651,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.07,,,,,,,,,109802,20535,ENSG00000153208,ENST00000295408,CCDS2094.1,MERTK,0.65,,,,,8.52475,40,Q12866_R651X,R,X,651,RX,R651X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4904,P02708,V,I,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,14378,2225,ENSG00000138435,ENST00000409542,,CHRNA1,0.59,,,deleterious,0,4.22367,22,P02708_V223I,V,I,223,VI,V223I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,0.00149087,0,0.0508417,0.925758
4912,P02708,V,M,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,0,0,0,,,,,,10180,1478,ENSG00000138435,ENST00000409542,,CHRNA1,0.25,benign,0.272,deleterious,0,3.71192,18.85,P02708_V94M,V,M,94,VM,V94M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-2.155,-4.299,2.144,,,,,,4.591,,93.98,0.000421059,0,0.014359,0.906009
4914,P02708,V,L,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,10108,1550,ENSG00000138435,ENST00000409219,,CHRNA1,0.4,probably_damaging,0.996,deleterious,0,5.58154,35,P02708_V152L,V,L,152,VL,V152L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,0.000954743,0,0.0325587,0.926602
5002,Q9Y2I7,Q,X,932,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.05,,,,,,,,,59410,335,ENSG00000115020,ENST00000452564,,PIKFYVE,0.67,,,,,3.71957,18.89,Q9Y2I7_Q932X,Q,X,932,QX,Q932X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
5117,Q6Y7W6,N,T,400,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,0.001,0,0.001,0.001,,,,0.001,6371,46,ENSG00000204120,ENST00000423659,,GIGYF2,0.56,benign,0.001,tolerated,0.48,0.572533,7.093,Q6Y7W6_N400T,N,T,400,NT,N400T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,,,,,,,,,,,,0.000306757,0,0.0104611,0.991727
5569,Q7Z412,G,R,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,1531,8212,ENSG00000215193,ENST00000399744,CCDS13750.1,PEX26,0.29,probably_damaging,1,deleterious,0,4.77847,26.9,Q7Z412_G89R,G,R,89,GR,G89R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.741,-3.808,3.067,,,,,,,,,0.00210883,0,0.0719153,0.764211
5651,P30566,R,Q,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,19,353,ENSG00000239900,ENST00000454266,,ADSL,0.41,benign,0.088,tolerated,0.34,2.55197,14.49,P30566_R204Q,R,Q,204,RQ,R204Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000536924,0,0.0183102,0.995654
5746,Q8NBK3,R,Q,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,105023,114,ENSG00000144455,ENST00000458465,,SUMF1,0.9,possibly_damaging,0.589,deleterious,0,5.59112,35,Q8NBK3_R217Q,R,Q,217,RQ,R217Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00333305,0,0.113664,0.968556
5749,Q8NBK3,R,C,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,105010,127,ENSG00000144455,ENST00000458465,,SUMF1,0.88,probably_damaging,0.928,deleterious,0,4.2919,22.5,Q8NBK3_R213C,R,C,213,RC,R213C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000749447,0,0.0255577,0.954625
5800,P40337,H,D,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.09,,,,,,,,,7348,252,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.87,possibly_damaging,0.666,deleterious,0,4.12773,21.3,P40337_H150D,H,D,150,HD,H150D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,,,,,,,,,,,,0.00872267,0,0.297461,0.932455
5839,P10828,C,X,434,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.05,,,,,,,,,42628,130,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.94,,,,,7.41793,39,P10828_C434X,C,X,434,CX,C434X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00520444,0,0.177482,0.935276
5845,P10828,D,H,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,37917,4841,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.7,probably_damaging,1,deleterious,0,5.12984,32,P10828_D322H,D,H,322,DH,D322H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.139,-4.191,3.052,0.085,E,B,0.58,-0.35,,,,0.001756,0,0.0598831,0.579016
5847,P10828,A,T,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,37902,4856,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.69,benign,0.395,tolerated,0.21,4.46617,23.9,P10828_A317T,A,T,317,AT,A317T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.175,-2.932,1.757,0.078,H,A,0.22,-1.31,,,,0.00214892,0,0.0732826,0.707161
5848,P10828,R,H,316,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,37900,4858,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.69,probably_damaging,1,deleterious,0,5.56872,35,P10828_R316H,R,H,316,RH,R316H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.038,H,A,1.03,-1.22,,,,0.00171631,0,0.0585298,0.555836
5852,P10828,A,T,234,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,22057,20701,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.51,benign,0.117,deleterious,0.03,3.18505,16.66,P10828_A234T,A,T,234,AT,A234T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.175,-2.932,1.757,0.476,T,l,0.22,1.29,,,,0.00294779,0,0.100526,0.884913
5879,P16278,R,X,321,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.03,,,,,,,,,56,8,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.5,,,,,5.61388,36,P16278_R321X,R,X,321,RX,R321X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00136856,0,0.0466708,0.900587
5923,Q14524,G,S,1208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.09,,,,,,,,,66852,16144,ENSG00000183873,ENST00000449557,,SCN5A,0.62,probably_damaging,0.998,deleterious,0,5.22875,33,Q14524_G1208S,G,S,1208,GS,G1208S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,,,,0.954663
6032,O75369,V,D,1592,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.11,,,,,,,,,4004,34693,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.61,probably_damaging,0.977,deleterious,0,5.08704,31,O75369_V1592D,V,D,1592,VD,V1592D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.462,-3.784,2.322,,,,,,1.55,,85.24,0.000254893,0,0.00869237,0.872711
6039,O75369,G,X,1839,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.08,,,,,,,,,636,2322,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.71,,,,,13.7126,47,O75369_G1839X,G,X,1839,GX,G1839X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.00023745,0,0.00809754,0.968579
6336,Q13144,R,H,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,223,65,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.41,benign,0.043,tolerated,0.11,3.38835,17.43,Q13144_R299H,R,H,299,RH,R299H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.565,-2.426,0.861,,,,,,25.534,25.534,72.12,0.00128568,0,0.0438443,1.07471
6353,Q13144,L,R,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,67,2,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.59,probably_damaging,0.934,deleterious,0,3.54919,18.1,Q13144_L425R,L,R,425,LR,L425R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.252,-3.832,2.58,,,,,,0.857,,39.53,0.00168079,0,0.0573183,0.81514
6354,Q13144,P,L,427,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,61,5,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.59,benign,0.402,deleterious,0.01,2.75044,15.16,Q13144_P427L,P,L,427,PL,P427L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.525,-3.423,1.898,,,,,,2.953,,65.46,0.00121445,0,0.0414154,0.916809
6363,Q92685,M,K,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,10,266,ENSG00000214160,ENST00000446569,,ALG3,0.19,possibly_damaging,0.634,deleterious,0.01,4.50559,24.2,Q92685_M61K,M,K,61,MK,M61K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,,,,,,,,,,,,,,,0.947097
6375,Q9H3D4,R,Q,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.09,,,,,,,,,74579,112,ENSG00000073282,ENST00000392461,,TP63,0.36,probably_damaging,0.988,deleterious,0,5.75529,36,Q9H3D4_R149Q,R,Q,149,RQ,R149Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000557885,0,0.019025,0.995654
6393,Q9Y5I7,G,R,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,16785,26,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.63,probably_damaging,1,deleterious,0,5.09211,31,Q9Y5I7_G191R,G,R,191,GR,G191R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.00166463,0,0.0567672,0.702179
6522,P30968,R,H,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,0,0,0,,,,,,416,13440,ENSG00000109163,ENST00000420975,CCDS47064.1,GNRHR,0.56,probably_damaging,0.998,deleterious,0.01,5.00971,29.5,P30968_R139H,R,H,139,RH,R139H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.00123826,0,0.0422273,0.740439
6641,P20933,S,P,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,675,298,ENSG00000038002,ENST00000264595,CCDS3829.1,AGA,0.21,probably_damaging,0.935,deleterious,0.01,3.65785,18.59,P20933_S72P,S,P,72,SP,S72P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.524,-3.564,2.04,0.216,S,A,0.25,0,2.317,,87.28,0.00390123,0,0.13304,0.801888
6642,P20933,G,D,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,710,333,ENSG00000038002,ENST00000264595,CCDS3829.1,AGA,0.17,probably_damaging,0.999,deleterious,0,4.2012,21.8,P20933_G60D,G,D,60,GD,G60D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.763,-3.324,2.561,,H,A,0.46,0,,,,0.00295569,0,0.100795,0.67831
6688,P03951,G,V,366,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,18245,4572,ENSG00000088926,ENST00000264692,,F11,0.64,probably_damaging,1,deleterious,0,4.16382,21.5,P03951_G366V,G,V,366,GV,G366V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00108382,0,0.0369606,0.9036
6865,P35556,C,F,1142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.09,,,,,,,,,212,10681,ENSG00000138829,ENST00000262464,CCDS34222.1,FBN2,0.39,probably_damaging,0.998,deleterious,0,4.87262,27.9,P35556_C1142F,C,F,1142,CF,C1142F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.412,-3.803,2.391,,,,,,,,,,,,0.757458
6899,Q9UH77,Y,C,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,2863,3879,ENSG00000146021,ENST00000506491,,KLHL3,0.94,probably_damaging,1,deleterious,0,4.25125,22.2,Q9UH77_Y475C,Y,C,475,YC,Y475C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00250985,0,0.0855911,0.941332
6900,Q9UH77,R,H,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,376,6366,ENSG00000146021,ENST00000506491,,KLHL3,0.88,probably_damaging,0.987,tolerated,0.06,5.46258,35,Q9UH77_R446H,R,H,446,RH,R446H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.0020654,0,0.0704343,0.983511
6901,Q9UH77,R,C,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,375,6367,ENSG00000146021,ENST00000506491,,KLHL3,0.88,probably_damaging,0.999,deleterious,0.04,4.00186,20.5,Q9UH77_R446C,R,C,446,RC,R446C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.0020654,0,0.0704343,0.937925
6956,P16499,Y,X,583,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.04,,,,,,,,,58440,28398,ENSG00000132915,ENST00000255266,CCDS4299.1,PDE6A,0.68,,,,,7.53202,39,P16499_Y583X,Y,X,583,YX,Y583X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
6969,P17900,C,R,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,7100,19,ENSG00000196743,ENST00000523004,,GM2A,0.94,probably_damaging,1,deleterious,0,4.62829,25.3,P17900_C97R,C,R,97,CR,C97R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.0108327,0,0.369419,0.917006
6977,P23415,I,N,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,73346,1796,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.6,probably_damaging,0.997,deleterious,0,4.60008,25.1,P23415_I272N,I,N,272,IN,I272N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.63,-3.805,2.175,,,,,,,,,0.00056909,0,0.0194071,0.820073
6987,Q0D2K0,A,D,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.09,0.001,0,0.002,0.001,,,0.002,0.001,8399,13,ENSG00000172548,ENST00000311946,CCDS47328.1,NIPAL4,0.38,possibly_damaging,0.543,deleterious,0.01,3.86948,19.66,Q0D2K0_A176D,A,D,176,AD,A176D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.429,-3.687,2.258,,,,,,1.788,,65.24,0.00363545,0,0.123976,0.850511
7093,Q6VVB1,D,A,308,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,937,1197,ENSG00000187566,ENST00000340650,CCDS4542.1,NHLRC1,0.78,probably_damaging,0.918,deleterious,0.02,3.99826,20.5,Q6VVB1_D308A,D,A,308,DA,D308A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-0.895,-3.178,2.283,,,,,,,,,0.00266319,0,0.0908201,0.786914
7249,P17302,Y,S,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,11205,2831,ENSG00000152661,ENST00000282561,CCDS5123.1,GJA1,0.04,probably_damaging,0.999,deleterious,0,4.63668,25.4,P17302_Y17S,Y,S,17,YS,Y17S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,-1.282,-3.346,2.064,,,,,,,,,0.00184038,0,0.0627609,0.797235
7253,P17302,R,X,33,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.04,,,,,,,,,11252,2784,ENSG00000152661,ENST00000282561,CCDS5123.1,GJA1,0.09,,,,,6.07401,37,P17302_R33X,R,X,33,RX,R33X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000535317,0,0.0182554,0.977351
7315,P00747,S,P,591,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,34734,16331,ENSG00000122194,ENST00000308192,CCDS5279.1,PLG,0.73,probably_damaging,0.993,deleterious,0,3.39439,17.46,P00747_S591P,S,P,591,SP,S591P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.146,-3.472,2.326,,S,A,0.25,-0.12,,,,0.00132794,0,0.0452856,0.691897
7334,P54278,R,X,134,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.09,,,,,,,,,1417,624,ENSG00000122512,ENST00000265849,CCDS5343.1,PMS2,0.16,,,,,6.25791,37,P54278_R134X,R,X,134,RX,R134X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000547187,0,0.0186602,0.977351
7397,P10071,Q,X,716,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.03,,,,,,,,,184574,3799,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.45,,,,,7.8934,39,P10071_Q716X,Q,X,716,QX,Q716X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000430089,0,0.0146669,0.98231
7399,P10071,Q,X,704,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.01,,,,,,,,,184538,3835,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.45,,,,,8.32363,40,P10071_Q704X,Q,X,704,QX,Q704X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000736831,0.00114155,0.0251275,0.98231
7432,P20711,A,T,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,44782,6554,ENSG00000132437,ENST00000426377,CCDS56485.1,DDC,0.49,probably_damaging,0.997,deleterious,0,4.38301,23.2,P20711_A197T,A,T,197,AT,A197T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00231525,0,0.0789549,0.977688
7498,P08123,G,S,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,14806,21866,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.2,,,deleterious,0,4.31241,22.6,P08123_G280S,G,S,280,GS,G280S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,0,,,,2.54e-05,0,0.000867245,0.72721
7515,O43556,L,R,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,37266,29,ENSG00000127990,ENST00000447873,,SGCE,0.46,probably_damaging,0.999,deleterious,0,3.27956,17.01,O43556_L196R,L,R,196,LR,L196R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.347,-3.615,2.268,,,,,,,,,0.00220645,0,0.0752447,0.791067
7705,P35523,T,M,310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,9373,49,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.31,probably_damaging,0.998,deleterious,0,4.60518,25.1,P35523_T310M,T,M,310,TM,T310M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.149,-4.257,3.108,,,,,,,,,0.000689679,0,0.0235195,0.8165
7784,P06858,R,S,26,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,12569,4,ENSG00000175445,ENST00000520959,,LPL,0.23,probably_damaging,0.998,tolerated,0.19,3.51136,17.94,P06858_R26S,R,S,26,RS,R26S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,,,,,,,,,,,,0.00118989,0,0.0405778,0.896196
7857,P11362,I,T,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,0,0,0.001,,,,,,76,1,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.29,benign,0.004,tolerated,0.1,2.84575,15.48,P11362_I209T,I,T,209,IT,I209T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.000440873,0,0.0150347,0.993982
7973,Q16394,R,L,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,273270,6908,ENSG00000182197,ENST00000436216,,EXT1,0.63,possibly_damaging,0.738,deleterious,0.02,5.59341,35,Q16394_R130L,R,L,130,RL,R130L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00132287,0,0.0451126,0.904213
8048,P07902,F,S,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,307,150,ENSG00000213930,ENST00000450095,,GALT,0.23,probably_damaging,1,deleterious,0,3.87841,19.71,P07902_F62S,F,S,62,FS,F62S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,0.00352049,0,0.120056,0.929586
8063,P07951,Q,P,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,58,735,ENSG00000198467,ENST00000360958,CCDS6587.1,TPM2,0.52,probably_damaging,0.982,deleterious,0,4.09169,21.1,P07951_Q147P,Q,P,147,QP,Q147P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.699,-3.336,1.637,,,,,0,,,,0.00066169,0,0.022565,0.819292
8075,Q9Y223,V,L,572,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,0.001,0.002,,,,29009,2751,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.79,probably_damaging,0.997,deleterious,0,5.18118,32,Q9Y223_V572L,V,L,572,VL,V572L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.465,-2.365,0.9,,,,,,,,,0.00122854,0,0.0418958,0.860854
8157,Q00597,R,X,548,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.09,0,0,0,,,,,,215484,2687,ENSG00000158169,ENST00000375305,CCDS35071.1,FANCC,0.98,,,,,4.45428,23.8,Q00597_R548X,R,X,548,RX,R548X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0155162,0,0.529134,0.933515
8195,P05062,C,X,240,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.03,,,,,,,,,10224,30,ENSG00000136872,ENST00000374855,CCDS6756.1,ALDOB,0.66,,,,,4.82501,27.4,P05062_C240X,C,X,240,CX,C240X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00476044,0,0.162341,0.93978
8287,P00966,K,Q,310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,9566,1,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.75,probably_damaging,0.999,deleterious,0,4.52097,24.3,P00966_K310Q,K,Q,310,KQ,K310Q,PositiveCharge,Polar,9.74,6.24,-3.5,146,146,0,168.6,143.8,-24.8,53,-1.265,-3.185,1.92,0.01,H,A,1.7,-0.56,,,,0.00514228,0,0.175362,0.645192
8317,Q92574,K,R,587,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,0.001,0.002,0,0.02,,0.13,,0.003,19925,9737,ENSG00000165699,ENST00000298552,CCDS6956.1,TSC1,0.5,benign,0.043,tolerated,0.16,2.65719,14.85,Q92574_K587R,K,R,587,KR,K587R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.441,-2.177,0.736,,,,,,28.966,28.966,84.19,0.000442282,0,0.0150827,1.0175
8363,P51690,R,S,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,5842,12,ENSG00000157399,ENST00000545496,,ARSE,0.06,benign,0.102,tolerated,0.21,0.137829,4.741,P51690_R37S,R,S,37,RS,R37S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.68,-3.287,1.607,0.423,.,l,0.93,0.03,3.568,,90.49,0.00268666,0,0.0916206,0.891384
8379,O15344,L,P,626,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.15,,,,,,,,,10548,31,ENSG00000101871,ENST00000380780,CCDS14138.1,MID1,0.94,possibly_damaging,0.718,deleterious,0,4.49426,24.1,O15344_L626P,L,P,626,LP,L626P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00552743,0,0.188497,0.758219
8929,P41229,A,P,321,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.07,,,,,,,,,209,542,ENSG00000126012,ENST00000452825,CCDS55417.1,KDM5C,0.23,probably_damaging,1,deleterious,0,4.74254,26.5,P41229_A321P,A,P,321,AP,A321P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,,,,0.959577
8937,Q99714,L,V,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,213,251,ENSG00000072506,ENST00000375304,CCDS35300.1,HSD17B10,0.48,benign,0.005,tolerated,0.09,1.40611,10.64,Q99714_L122V,L,V,122,LV,L122V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.538,-1.765,0.227,,I,a,0.11,-0.81,20.837,20.837,77.39,0.00514769,0.00719425,0.175547,0.916786
8985,P10275,W,X,187,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.04,,,,,,,,,142784,12264,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.48,,,,,6.099,37,P10275_W187X,W,X,187,WX,W187X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00128219,0,0.0437254,0.881419
9045,P08034,R,W,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,544,211,ENSG00000169562,ENST00000447581,,GJB1,0.18,probably_damaging,0.998,deleterious,0,3.16606,16.59,P08034_R15W,R,W,15,RW,R15W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.569,-5.162,3.593,,,,,,0.25,,53.36,0.00328039,0,0.111868,0.836576
9199,P06280,C,G,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,59,4428,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.13,probably_damaging,0.998,deleterious,0,4.32883,22.7,P06280_C56G,C,G,56,CG,C56G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.111,-3.439,2.328,0.419,T,A,0.75,1.37,,,,0.00171853,0,0.0586056,0.743284
9209,P60201,H,Y,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,628,8,ENSG00000123560,ENST00000303958,CCDS14513.1,PLP1,0.51,benign,0.08,deleterious,0.03,2.19458,13.3,P60201_H140Y,H,Y,140,HY,H140Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-2.18,-2.027,-0.153,,,,,,15.813,15.813,70.04,0.00279411,0,0.095285,1.05049
9210,P60201,W,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.05,,,,,,,,,644,24,ENSG00000123560,ENST00000303958,CCDS14513.1,PLP1,0.52,,,,,4.78334,26.9,P60201_W145X,W,X,145,WX,W145X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00146133,0,0.0498343,0.881419
9213,P60201,S,F,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,54,117,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.56,possibly_damaging,0.794,deleterious,0,4.02961,20.7,P60201_S135F,S,F,135,SF,S135F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.00182318,0,0.0621741,0.951757
9326,P29400,G,E,579,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.01,,,,,,,,,15033,29745,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.34,,,deleterious,0,4.04568,20.8,P29400_G579E,G,E,579,GE,G579E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,,,,,,,,,0.000215969,0,0.00736498,0.806888
9357,P29400,G,V,787,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,24365,20413,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.47,,,deleterious,0,3.85995,19.61,P29400_G787V,G,V,787,GV,G787V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,2.63e-05,0,0.000895741,0.806553
9376,P29400,G,V,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0,0,0.001,0,0.003,0.01,,,,90,3790,ENSG00000188153,ENST00000505728,,COL4A5,0.18,,,deleterious,0,3.35652,17.31,P29400_G31V,G,V,31,GV,G31V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.008,-3.435,2.427,,,,,,,,,0.000148445,0,0.00506229,0.806438
9387,P29400,G,X,135,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.53,0.01,,,,,,,,,3596,284,ENSG00000188153,ENST00000505728,,COL4A5,0.78,,,,,5.28541,33,P29400_G135X,G,X,135,GX,G135X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,2.49e-05,0,0.000847876,0.97622
9421,P29400,G,V,1385,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0,,,,,,,,,52,5675,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.82,probably_damaging,0.99,deleterious,0,3.94713,20.2,P29400_G1385V,G,V,1385,GV,G1385V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,0.000316058,0,0.0107782,0.802014
9454,O43602,R,H,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.05,,,,,,,,,9842,70359,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.54,probably_damaging,0.98,deleterious,0,4.99058,29.3,O43602_R196H,R,H,196,RH,R196H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00193312,0,0.0659234,0.983511
9544,Q13642,W,S,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,2916,59,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,0.44,probably_damaging,0.99,deleterious,0,3.94189,20.2,Q13642_W122S,W,S,122,WS,W122S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.198,-3.613,2.415,,,,,,,,,0.00145505,0,0.0496203,0.68797
9545,Q13642,H,Y,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.04,,,,,,,,,2918,57,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,0.44,probably_damaging,0.997,deleterious,0,4.4207,23.5,Q13642_H123Y,H,Y,123,HY,H123Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.311,-3.039,1.728,,,,,,,,,0.00115058,0,0.0392373,0.841937
9727,P51608,R,W,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.08,,,,,,,,,1911,106,ENSG00000169057,ENST00000407218,,MECP2,0.62,probably_damaging,0.999,deleterious,0,3.91931,19.94,P51608_R106W,R,W,106,RW,R106W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,0.179,E,B,1.67,0,,,,0.00179499,0,0.0612129,0.633862
9735,#N/A,R,Q,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.11,,,,,,,,,5878,204,ENSG00000147380,ENST00000430054,,OPN1MW,0.8,benign,0.264,deleterious,0.01,3.55338,18.12,#N/A_R130Q,R,Q,130,RQ,R130Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
9793,O60832,K,R,314,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.53,0.03,,,,,,,,,2241,93,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.61,possibly_damaging,0.576,deleterious,0,4.5025,24.2,O60832_K314R,K,R,314,KR,K314R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.529,-2.093,0.564,0.279,.,b,1.14,-0.85,25.368,25.368,73.74,0.0016446,0,0.0560841,0.916873
90,Q92539,P,L,348,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.07,0,0,0.001,0.001,,,,0.003,74131,20823,ENSG00000101577,ENST00000261596,CCDS11829.1,LPIN2,0.39,benign,0.001,tolerated,0.13,1.78232,11.92,Q92539_P348L,P,L,348,PL,P348L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.905,-2.846,0.941,,,,,,34.324,34.324,91.41,0.00125091,0,0.0494708,0.971374
120,Q8IWY9,Q,R,596,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.03,0.416,0.819,0.21,0.39,0.25,0.18,0.95,0.22,520,7722,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.49,benign,0.001,tolerated,0.93,0.359651,5.952,Q8IWY9_Q596R,Q,R,596,QR,Q596R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-2.704,-2.501,-0.203,,,,,,31.712,31.712,59.9,0.000535596,0,0.0211817,1.01742
149,Q13867,I,V,356,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.01,0.285,0.214,0.322,0.27,0.18,0.35,0.23,0.34,1226,226,ENSG00000108578,ENST00000394819,,BLMH,0.97,benign,0,tolerated,1,-0.850369,0.549,Q13867_I356V,I,V,356,IV,I356V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.00404014,0,0.159779,0.978876
150,Q13402,D,N,1284,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.07,0.026,0.079,0,0.03,,0.01,0.11,0.001,486,46,ENSG00000137474,ENST00000458169,,MYO7A,0.95,benign,0.138,tolerated,0.43,2.30071,13.65,Q13402_D1284N,D,N,1284,DN,D1284N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
197,P38484,T,R,77,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.07,0.053,0.145,0.006,0.03,,0.01,0.13,0.01,11522,43,ENSG00000159128,ENST00000381995,,IFNGR2,0.22,possibly_damaging,0.891,deleterious,0.01,2.22257,13.39,P38484_T77R,T,R,77,TR,T77R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,,,,,,,,,,,,,,,0.951246
214,P29400,I,V,703,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0,,,,,,,,,19458,25320,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.42,,,tolerated,0.65,0.762281,8.033,P29400_I703V,I,V,703,IV,I703V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.997,-2.254,0.257,,,,,,12.862,12.862,86.94,2.76e-05,0,0.0010914,1.02789
219,P29033,V,I,27,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.08,0.003,0.003,0.002,0.1,0.34,0.08,0.01,,278,2031,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.12,probably_damaging,0.998,tolerated,0.21,3.23167,16.83,P29033_V27I,V,I,27,VI,V27I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.233,-1.962,0.729,0.142,H,A,0.04,0.06,21.866,21.866,80.53,0.00386203,0,0.152735,0.922563
243,P21817,H,P,4646,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.03,,,,,,,,,138524,15341,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.92,,,,,1.95091,12.48,P21817_H4646P,H,P,4646,HP,H4646P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,,,,,,,,,,,,,,,0.948808
251,P21817,L,P,4645,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.03,,,,,,,,,138521,15344,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.92,,,,,1.43482,10.74,P21817_L4645P,L,P,4645,LP,L4645P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
252,P21817,L,F,4809,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.04,,,,,,,,,146357,7508,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.96,,,,,1.79084,11.95,P21817_L4809F,L,F,4809,LF,L4809F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,,,,0.961576
313,P04156,E,K,219,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.09,,,,0.01,0.03,,,,13332,4,ENSG00000171867,ENST00000424424,,PRNP,0.88,benign,0.002,deleterious,0.04,1.33745,10.39,P04156_E219K,E,K,219,EK,E219K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-2.176,-2.198,0.022,0.626,I,A,1.3,-0.28,22.998,22.998,77.08,0.0191044,0.0882353,0.755538,1.01197
373,O75445,E,A,2238,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.54,0.04,0.022,0.006,0.03,0.01,,0.02,0.01,0.01,430285,370218,ENSG00000042781,ENST00000366943,,USH2A,0.43,probably_damaging,0.994,deleterious,0.02,5.30385,34,O75445_E2238A,E,A,2238,EA,E2238A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,,,,,,,,,,,,,,,0.939738
29,Q13148,G,D,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,289,446,ENSG00000120948,ENST00000439080,,TARDBP,0.73,probably_damaging,0.965,deleterious,0.01,3.12853,16.46,Q13148_G219D,G,D,219,GD,G219D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00215974,0,0.0736517,0.961241
45,Q9Y5Z9,D,G,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.11,,,,,,,,,24,14569,ENSG00000120942,ENST00000376804,,UBIAD1,0.63,probably_damaging,0.998,deleterious,0,4.43698,23.6,Q9Y5Z9_D112G,D,G,112,DG,D112G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.541,-3.06,1.519,,,,,,6.213,,79.29,0.00111976,0,0.0381863,0.951386
62,O95140,P,A,251,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,18718,14479,ENSG00000116688,ENST00000235329,CCDS30587.1,MFN2,0.33,probably_damaging,0.999,deleterious,0,4.86832,27.8,O95140_P251A,P,A,251,PA,P251A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.115,-2.813,1.698,,,,,,,,,,,,0.863167
70,P51801,P,L,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,873,9392,ENSG00000184908,ENST00000375679,CCDS168.1,CLCNKB,0.18,probably_damaging,0.98,deleterious,0,2.89779,15.66,P51801_P124L,P,L,124,PL,P124L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.142,-3.394,2.252,,,,,,2.223,,52.4,0.000887643,0,0.0302705,0.847612
81,P21912,P,R,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,865,52,ENSG00000117118,ENST00000375499,CCDS176.1,SDHB,0.7,probably_damaging,1,deleterious,0,4.8836,28,P21912_P197R,P,R,197,PR,P197R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.861,-4.012,3.151,0.158,H,A,0.68,-0.83,2.011,,60.71,0.00136736,0,0.0466299,0.572886
108,P05186,G,V,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,14119,9812,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.38,probably_damaging,0.91,deleterious,0,2.65992,14.85,P05186_G172V,G,V,172,GV,G172V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.000374272,0,0.0127634,0.973283
121,P29323,A,S,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,0.006,0.017,0,0.001,,,0.002,,167,100,ENSG00000133216,ENST00000544305,,EPHB2,0.58,benign,0.015,tolerated,0.37,1.56014,11.17,P29323_A279S,A,S,279,AS,A279S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.776,-2.156,0.38,,,,,,17.01,17.01,90.9,0.00116721,0,0.0398042,1.0096
137,Q02161,V,G,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,0.003,0,0.005,0.001,,,,0.001,30781,3614,ENSG00000187010,ENST00000423810,,RHD,0.63,possibly_damaging,0.674,deleterious,0,1.46686,10.85,Q02161_V270G,V,G,270,VG,V270G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.873,-3.59,1.717,,,,,,2.419,,82.49,0.00327852,0,0.111804,0.934847
193,P11166,K,X,456,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.09,,,,,,,,,4053,358,ENSG00000117394,ENST00000426263,CCDS477.1,SLC2A1,0.93,,,,,6.72619,38,P11166_K456X,K,X,456,KX,K456X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00434946,0,0.148326,0.942769
195,P11166,Q,X,397,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.04,,,,,,,,,3513,898,ENSG00000117394,ENST00000426263,CCDS477.1,SLC2A1,0.81,,,,,7.06695,38,P11166_Q397X,Q,X,397,QX,Q397X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00131922,0,0.0449881,0.904853
220,P40238,P,L,635,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,14961,5,ENSG00000117400,ENST00000372470,CCDS483.1,MPL,1,probably_damaging,0.995,deleterious,0,2.3122,13.69,P40238_P635L,P,L,635,PL,P635L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,,,,,,,,,,,,0.777772
230,P06132,E,K,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,118,24,ENSG00000126088,ENST00000434478,,UROD,0.76,probably_damaging,0.991,deleterious,0,5.48425,35,P06132_E146K,E,K,146,EK,E146K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00562466,0,0.191812,0.949046
237,Q9UIF7,E,X,477,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,51,515,ENSG00000132781,ENST00000372098,CCDS520.1,MUTYH,0.87,,,,,5.79273,36,Q9UIF7_E477X,E,X,477,EX,E477X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
246,Q8WZA1,R,X,63,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.04,,,,,,,,,458,1534,ENSG00000085998,ENST00000371992,,POMGNT1,0.08,,,,,6.57912,37,Q8WZA1_R63X,R,X,63,RX,R63X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000548653,0,0.0187102,0.977351
308,P78363,L,R,241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,26,2352,ENSG00000198691,ENST00000536513,,ABCA4,0.44,probably_damaging,0.998,deleterious,0,4.38744,23.2,P78363_L241R,L,R,241,LR,L241R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,,,,0.946893
309,P78363,L,F,240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,0.004,0.002,0.005,0.003,,0.01,,0.01,22,2356,ENSG00000198691,ENST00000536513,,ABCA4,0.44,probably_damaging,0.911,deleterious,0,4.76054,26.7,P78363_L240F,L,F,240,LF,L240F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,,,,0.961576
352,Q8TAA9,M,T,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,0,0,0,,,,,,12836,97,ENSG00000173218,ENST00000355485,CCDS883.1,VANGL1,0.63,benign,0.07,tolerated,0.11,2.2128,13.36,Q8TAA9_M328T,M,T,328,MT,M328T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.906,-2.087,0.181,,,,,,13.563,13.563,68.7,0.00245585,0,0.0837495,1.01767
358,P26439,P,T,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,4752,77,ENSG00000203859,ENST00000543831,CCDS902.1,HSD3B2,0.6,probably_damaging,0.97,deleterious,0,3.34704,17.27,P26439_P222T,P,T,222,PT,P222T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.059,-3.322,2.263,,,,,,1.775,,44.09,0.00218607,0,0.0745497,0.855037
365,P54868,R,H,458,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,18065,2446,ENSG00000134240,ENST00000544913,CCDS53353.1,HMGCS2,0.98,probably_damaging,0.998,deleterious,0,3.73081,18.95,P54868_R458H,R,H,458,RH,R458H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00492206,0,0.167852,0.965411
385,P12314,R,X,92,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.03,0.004,0.002,0.005,,,,,,1496,273,ENSG00000150337,ENST00000369168,CCDS933.1,FCGR1A,0.25,,,,,1.40734,10.64,P12314_R92X,R,X,92,RX,R92X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
471,P78508,R,P,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,44,1868,ENSG00000177807,ENST00000368089,CCDS1193.1,KCNJ10,0.17,probably_damaging,1,deleterious,0,4.07171,20.9,P78508_R65P,R,P,65,RP,R65P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.281,-3.657,2.376,,,,,,,,,0.00126203,0,0.0430379,0.707645
539,P12259,E,X,147,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,,,,,,,,,25781,14212,ENSG00000198734,ENST00000367796,,F5,0.07,,,,,4.82962,27.4,P12259_E147X,E,X,147,EX,E147X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,9.07e-05,0,0.00309177,0.98778
615,P15104,R,C,324,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.12,,,,,,,,,1383,142,ENSG00000135821,ENST00000311223,CCDS1344.1,GLUL,0.87,benign,0.426,deleterious,0.02,4.63326,25.4,P15104_R324C,R,C,324,RC,R324C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.081,E,B,1.66,0.41,,,,0.00351081,0,0.119726,0.560033
684,P45379,R,L,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,631,976,ENSG00000118194,ENST00000367318,CCDS30969.1,TNNT2,0.71,probably_damaging,0.992,deleterious,0,4.9027,28.2,P45379_R205L,R,L,205,RL,R205L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00746701,0,0.25464,0.923502
705,O14896,R,H,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,5691,5750,ENSG00000117595,ENST00000456314,,IRF6,0.3,probably_damaging,1,deleterious,0,5.29203,34,O14896_R84H,R,H,84,RH,R84H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.572,-4.22,2.648,,,,,,0.753,,80.94,0.000303983,0,0.0103664,0.879431
715,O75445,C,Y,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,97905,151546,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.21,probably_damaging,1,deleterious,0,3.50874,17.93,O75445_C319Y,C,Y,319,CY,C319Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.111,-4.018,2.907,,,,,,,,,,,,0.744925
716,O75445,R,R,317,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.54,0.07,,,,,,,,,97898,151553,ENSG00000042781,ENST00000366942,CCDS1516.1,USH2A,0.21,,,,,-0.467263,1.842,O75445_R317R,R,R,317,RR,R317R,PositiveCharge,PositiveCharge,6.34,6.34,0,174,174,0,173.4,173.4,0,0,,,,,,,,,,,,,,,0.959945
850,P07949,P,L,1039,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,0,0,0,,,,,,49572,802,ENSG00000165731,ENST00000340058,CCDS53525.1,RET,0.97,probably_damaging,1,deleterious,0.04,4.53108,24.4,P07949_P1039L,P,L,1039,PL,P1039L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.00299891,0,0.102269,0.783704
867,P11226,G,D,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0.103,0.029,0.14,0.12,0.17,0.16,0.03,0.13,13,3185,ENSG00000165471,ENST00000373968,CCDS7247.1,MBL2,0.22,probably_damaging,0.998,deleterious,0,4.01118,20.6,P11226_G54D,G,D,54,GD,G54D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.741,-3.344,2.603,,,,,,,,,0.00193566,0,0.0660101,0.782109
886,Q96S42,G,R,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,570,1160,ENSG00000156574,ENST00000287139,CCDS7304.1,NODAL,0.75,probably_damaging,1,deleterious,0,4.55957,24.7,Q96S42_G260R,G,R,260,GR,G260R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.883,-3.802,2.919,,,,,,3.035,,76.66,0.00160978,0,0.0548968,0.83862
905,Q9H251,P,L,240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,0.001,0.002,,,,89,75878,ENSG00000107736,ENST00000398809,CCDS44429.1,CDH23,0.45,possibly_damaging,0.818,deleterious,0,5.15833,32,Q9H251_P240L,P,L,240,PL,P240L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-2.507,-2.721,0.214,,,,,,10.121,10.121,92.46,,,,0.973102
920,P07602,L,P,349,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.13,,,,,,,,,589,109,ENSG00000197746,ENST00000373120,,PSAP,0.62,probably_damaging,0.997,deleterious,0,3.17027,16.61,P07602_L349P,L,P,349,LP,L349P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.184,-4.079,2.895,,,,,,0.877,,59.16,0.00252172,0,0.0859959,0.83232
934,Q8IWL1,G,V,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,3132,219,ENSG00000185303,ENST00000372325,CCDS41540.1,SFTPA2,0.93,probably_damaging,1,deleterious,0,2.157,13.17,Q8IWL1_G231V,G,V,231,GV,G231V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,0.011,S,l,0.73,-0.8,,,,0.00754472,0,0.25729,0.53845
951,O75112,D,N,673,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,0.001,0.01,,,,7445,277,ENSG00000122367,ENST00000361373,CCDS7377.1,LDB3,0.93,probably_damaging,0.998,deleterious,0,5.76604,36,O75112_D673N,D,N,673,DN,D673N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.601,-2.359,0.758,,,,,,1.699,1.699,26.55,0.00395671,0,0.134932,0.97252
988,P62736,R,C,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,10954,9,ENSG00000107796,ENST00000415557,,ACTA2,0.98,probably_damaging,0.993,,,4.07914,21,P62736_R149C,R,C,149,RC,R149C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.961,-4.69,2.729,0.363,.,B,1.66,0,,,,0.000508765,0,0.0173499,0.759592
1020,P11712,I,L,359,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,0.048,0.014,0.066,0.04,0.04,0.06,0.01,0.06,42625,8095,ENSG00000138109,ENST00000260682,CCDS7437.1,CYP2C9,0.73,benign,0.1,deleterious,0.03,1.03957,9.246,P11712_I359L,I,L,359,IL,I359L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,-1.837,-1.781,-0.056,0.015,H,A,0.07,-1.4,24.6,24.6,65.51,0.00279886,0,0.0954469,0.910165
1036,Q96RR1,W,X,474,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,,,,,,,,,1796,63,ENSG00000107815,ENST00000311916,CCDS7506.1,C10orf2,0.69,,,,,5.59403,35,Q96RR1_W474X,W,X,474,WX,W474X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00221432,0,0.0755128,0.940601
1037,Q96RR1,A,P,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,1797,62,ENSG00000107815,ENST00000311916,CCDS7506.1,C10orf2,0.69,probably_damaging,0.987,deleterious,0,4.42296,23.5,Q96RR1_A475P,A,P,475,AP,A475P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.013,-3.472,2.459,,,,,,,,,0.00191324,0,0.0652454,0.812954
1071,Q14520,G,E,534,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,0.028,0.007,0.039,0.01,,0.02,,0.03,35261,430,ENSG00000148702,ENST00000351270,CCDS7577.1,HABP2,0.95,probably_damaging,1,deleterious,0,3.98957,20.4,Q14520_G534E,G,E,534,GE,G534E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.741,-3.54,2.799,,,,,,,,,0.00358335,0,0.1222,0.761824
1076,P21802,E,A,474,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,18479,12983,ENSG00000066468,ENST00000336553,,FGFR2,0.71,probably_damaging,0.985,deleterious,0.01,4.45268,23.7,P21802_E474A,E,A,474,EA,E474A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,,,,,,,,,,,,0.000111184,0,0.00379162,0.987878
1219,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.54,0,,,,,,,,,27,479,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,4.311,22.6,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1220,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.54,0,,,,,,,,,28,480,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,4.82883,27.4,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1227,P02042,L,V,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,404,87,ENSG00000223609,ENST00000292901,,HBD,0.54,benign,0.043,tolerated,0.16,0.915491,8.726,P02042_L76V,L,V,76,LV,L76V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.391,-1.87,0.479,0.131,H,A,0.11,-0.65,19.597,19.597,85.71,0.00675336,0,0.230303,0.950768
1235,P69892,H,Y,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0,,,,,,,,,325,1028,ENSG00000196565,ENST00000380252,,HBG2,0.39,possibly_damaging,0.457,deleterious,0.02,2.36326,13.86,P69892_H54Y,H,Y,54,HY,H54Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,,,,0.953139
1244,P17405,W,G,392,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,8,828,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.62,probably_damaging,0.998,deleterious,0,3.77634,19.17,P17405_W392G,W,G,392,WG,W392G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,,,,,,,,,,,,0.0031161,0,0.106265,0.921004
1258,Q01432,R,C,573,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,0.001,0.002,,,,60,4414,ENSG00000133805,ENST00000396553,CCDS41617.1,AMPD3,0.75,probably_damaging,1,deleterious,0,4.1408,21.4,Q01432_R573C,R,C,573,RC,R573C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.026,H,A,1.66,0.05,,,,,,,0.556848
1276,Q14654,L,P,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,902,9,ENSG00000187486,ENST00000528992,,KCNJ11,0.98,possibly_damaging,0.629,deleterious,0.02,1.96387,12.52,Q14654_L153P,L,P,153,LP,L153P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00156811,0,0.0534757,0.905673
1306,P50461,L,P,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,13757,6246,ENSG00000129170,ENST00000533783,CCDS7848.1,CSRP3,0.23,probably_damaging,1,deleterious,0,4.08513,21,P50461_L44P,L,P,44,LP,L44P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,0.117,.,B,1.07,0,,,,0.00180992,0,0.0617221,0.632366
1325,P26367,T,A,391,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,588,786,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.93,benign,0.001,tolerated,0.3,2.00296,12.65,P26367_T391A,T,A,391,TA,T391A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.689,-1.826,0.137,,,,,,13.453,13.453,92.18,0.0102096,0,0.348169,0.966381
1423,P05155,Y,X,199,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.01,,,,,,,,,36,3976,ENSG00000149131,ENST00000278407,CCDS7962.1,SERPING1,0.4,,,,,6.33654,37,P05155_Y199X,Y,X,199,YX,Y199X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00385307,0,0.131398,0.945391
1480,O00255,H,D,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,438,25,ENSG00000133895,ENST00000443283,CCDS8083.1,MEN1,0.23,probably_damaging,1,deleterious,0,3.61713,18.41,O00255_H139D,H,D,139,HD,H139D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,-1,-3.474,2.474,,,,,,1.593,,37.89,0.000796169,0,0.027151,0.855923
1499,#N/A,E,X,586,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.04,,,,0.001,,0.003,,,14345,389,ENSG00000256349,ENST00000419755,,CTD-3074O7.11,0.93,,,,,6.67977,38,#N/A_E586X,E,X,586,EX,E586X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
1581,P38935,L,X,236,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.04,,,,,,,,,7702,120,ENSG00000132740,ENST00000255078,CCDS8187.1,IGHMBP2,0.24,,,,,4.90339,28.2,P38935_L236X,L,X,236,LX,L236X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,,,,0.935361
1624,Q13402,I,N,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,27720,28974,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.11,possibly_damaging,0.805,deleterious,0,4.64844,25.5,Q13402_I134N,I,N,134,IN,I134N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.236,-4.305,3.069,,,,,,1.286,,92.91,,,,0.808911
1659,Q9ULV1,M,V,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,3105,502,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.29,benign,0.381,deleterious,0.03,2.90185,15.67,Q9ULV1_M157V,M,V,157,MV,M157V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.885,-2.586,0.701,,,,,,8.174,,50.47,0.00124567,0,0.04248,0.996557
1731,P24752,I,T,312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,2520,1402,ENSG00000075239,ENST00000265838,CCDS8339.1,ACAT1,0.73,probably_damaging,0.972,deleterious,0,3.959,20.3,P24752_I312T,I,T,312,IT,I312T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.54,-3.159,1.619,0.045,E,B,0.7,-0.31,4.209,,84.31,0.00272216,0,0.0928311,0.784382
1772,P02656,K,E,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0,0,0,,,,,,2901,257,ENSG00000110245,ENST00000375345,,APOC3,0.82,probably_damaging,0.971,tolerated,0.11,2.7262,15.08,P02656_K96E,K,E,96,KE,K96E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.0996744,0.333333,3.3991,0.954455
1807,P08397,R,H,9,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,44,678,ENSG00000256269,ENST00000539986,,HMBS,0.05,probably_damaging,0.987,deleterious,0,5.56804,35,P08397_R9H,R,H,9,RH,R9H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00035707,0,0.0121768,1.0021
1824,P08397,G,D,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,453,6,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.58,probably_damaging,0.933,deleterious,0,4.75273,26.6,P08397_G199D,G,D,199,GD,G199D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00608431,0,0.207488,0.934782
1832,P08397,W,X,266,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.01,,,,,,,,,347,333,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.77,,,,,5.45777,35,P08397_W266X,W,X,266,WX,W266X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00397422,0,0.135529,0.931205
1848,Q9NY72,L,P,10,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,0,0,0,,,,,,832,11163,ENSG00000166257,ENST00000299333,CCDS8442.1,SCN3B,0.05,benign,0.06,tolerated,0.06,2.41428,14.03,Q9NY72_L10P,L,P,10,LP,L10P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.76,-3.721,1.961,,,,,,1.64,,88.37,0.00553536,0.0146341,0.188767,0.891435
1890,Q09470,T,K,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.13,,,,,,,,,1678,6193,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.46,possibly_damaging,0.767,deleterious,0,4.13562,21.3,Q09470_T226K,T,K,226,TK,T226K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.245,-3.192,1.947,0.252,H,A,2.12,0.37,,,,0.00062009,0,0.0211463,0.854626
1891,Q09470,T,M,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.13,,,,,,,,,1678,6193,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.46,probably_damaging,0.931,deleterious,0,3.65352,18.57,Q09470_T226M,T,M,226,TM,T226M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.245,-4.215,2.97,0.252,H,A,0.77,0.37,,,,0.00062009,0,0.0211463,0.763927
1900,Q09470,V,A,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,2224,5647,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.82,possibly_damaging,0.857,deleterious,0,4.07332,20.9,Q09470_V408A,V,A,408,VA,V408A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.304,-2.588,1.284,0.7,H,A,0.44,-0.17,,,,0.00102605,0,0.0349905,0.892936
1905,P22460,E,K,610,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,2056,809,ENSG00000130037,ENST00000252321,CCDS8536.1,KCNA5,1,probably_damaging,0.984,deleterious,0,4.54783,24.6,P22460_E610K,E,K,610,EK,E610K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.331,-3.073,1.742,,,,,,2.788,,61.83,0.0331926,0,1.13194,0.874358
1922,P04275,C,R,1060,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,99052,31744,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.38,probably_damaging,1,deleterious,0,3.89272,19.79,P04275_C1060R,C,R,1060,CR,C1060R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.035,-4.033,2.998,,,,,,0.317,,4.27,5.15e-05,0,0.00175691,0.762152
1929,P19438,C,Y,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,47,31,ENSG00000067182,ENST00000539372,,TNFRSF1A,0.39,probably_damaging,1,deleterious,0,2.98512,15.95,P19438_C117Y,C,Y,117,CY,C117Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.111,-4.018,2.907,0.324,.,B,0.25,-0.22,,,,0.0005248,0,0.0178968,0.711886
1930,P19438,C,R,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,48,32,ENSG00000067182,ENST00000539372,,TNFRSF1A,0.39,probably_damaging,1,deleterious,0,2.69653,14.98,P19438_C117R,C,R,117,CR,C117R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.111,-4.014,2.903,0.324,.,B,1.66,-0.22,,,,0.0005248,0,0.0178968,0.696904
2009,P11473,Y,X,295,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,58325,2209,ENSG00000111424,ENST00000229022,CCDS8757.1,VDR,0.69,,,,,4.20344,21.8,P11473_Y295X,Y,X,295,YX,Y295X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00253428,0.00757576,0.0864243,0.953982
2010,P11473,R,L,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,58261,2273,ENSG00000111424,ENST00000229022,CCDS8757.1,VDR,0.64,probably_damaging,0.906,deleterious,0,4.35596,22.9,P11473_R274L,R,L,274,RL,R274L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.281,-3.135,1.854,,,,,,,,,0.00199039,0,0.0678766,0.876437
2047,P02458,R,X,209,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,,,,,,,,,8418,22497,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.14,,,,,6.11315,37,P02458_R209X,R,X,209,RX,R209X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,4.19e-05,0,0.00142925,0.984992
2092,P37023,R,W,498,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,822,239,ENSG00000139567,ENST00000550683,,ACVRL1,0.96,probably_damaging,0.999,deleterious,0,2.81742,15.38,P37023_R498W,R,W,498,RW,R498W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
2145,P51687,R,Q,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0,0,0,,,,,,1825,29,ENSG00000139531,ENST00000394115,CCDS8901.2,SUOX,0.4,probably_damaging,1,deleterious,0,5.12184,32,P51687_R217Q,R,Q,217,RQ,R217Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,0.214,E,B,0.56,-0.71,,,,0.000639031,0,0.0217923,0.683228
2147,P51687,G,D,530,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,2764,305,ENSG00000139531,ENST00000394115,CCDS8901.2,SUOX,0.97,probably_damaging,0.999,deleterious,0,4.11764,21.2,P51687_G530D,G,D,530,GD,G530D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,.,L,0.46,-0.71,,,,0.0088134,0,0.300555,0.516537
2151,Q9UBC5,S,P,910,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,701,218,ENSG00000166866,ENST00000300119,CCDS8929.1,MYO1A,0.87,possibly_damaging,0.872,tolerated,0.14,4.27497,22.3,Q9UBC5_S910P,S,P,910,SP,S910P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.713,-3.605,1.892,,,,,,1.716,,59.06,0.00125997,0,0.0429676,0.936673
2157,Q12840,A,V,361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,0.001,,0.003,,,19604,15001,ENSG00000155980,ENST00000455537,CCDS8945.1,KIF5A,0.35,benign,0.005,tolerated,0.16,2.65722,14.85,Q12840_A361V,A,V,361,AV,A361V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.943,-3.269,1.326,,,,,,2.906,,85.37,0.000795118,0,0.0271152,0.976067
2223,P00439,V,A,245,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,0.001,0,0.001,,,,,,493,9209,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.54,probably_damaging,0.994,tolerated,0.07,4.95047,28.8,P00439_V245A,V,A,245,VA,V245A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.304,-2.588,1.284,0.083,.,B,0.44,-0.53,,,,0.00111821,0,0.0381333,0.715126
2225,P00439,R,Q,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,487,9215,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.54,probably_damaging,1,deleterious,0,6.0092,37,P00439_R243Q,R,Q,243,RQ,R243Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.013,E,B,0.56,-0.66,,,,0.000366367,0,0.0124939,0.735756
2226,P00439,R,X,243,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,,,,,,,,,486,9216,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.54,,,,,10.1705,43,P00439_R243X,R,X,243,RX,R243X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000366367,0,0.0124939,0.977351
2250,Q9HBA0,V,I,573,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,0.001,,,,0.001,22401,8775,ENSG00000111199,ENST00000392719,CCDS53828.1,TRPV4,0.7,probably_damaging,0.998,deleterious,0.03,5.23817,33,Q9HBA0_V573I,V,I,573,VI,V573I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,0.00106141,0,0.0361962,0.934271
2278,Q06124,T,M,411,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.12,,,,,,,,,67568,442,ENSG00000179295,ENST00000351677,CCDS9163.1,PTPN11,0.69,benign,0.076,tolerated,0.13,2.79407,15.3,Q06124_T411M,T,M,411,TM,T411M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00224247,0.00537634,0.0764728,0.975242
2333,P29033,D,N,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,734,1575,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.79,probably_damaging,0.92,tolerated,0.08,4.66086,25.7,P29033_D179N,D,N,179,DN,D179N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.987,-2.299,1.312,0.22,E,B,0.14,-1.08,16.537,16.537,50,0.00292442,0,0.0997286,0.767995
2346,P29033,D,Y,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,347,1962,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.22,probably_damaging,0.987,deleterious,0,3.27805,17.01,P29033_D50Y,D,Y,50,DY,D50Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.402,-4.413,3.011,0.226,T,a,0.96,-0.54,3.672,,71.24,0.00466366,0,0.159041,0.675124
2347,P29033,D,N,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,347,1962,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.22,possibly_damaging,0.885,deleterious,0.05,4.12614,21.3,P29033_D50N,D,N,50,DN,D50N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.402,-2.607,1.205,0.226,T,a,0.14,-0.54,16.537,16.537,71.24,0.00466366,0,0.159041,0.894617
2352,P29033,W,X,24,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,270,2039,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.11,,,,,5.13978,32,P29033_W24X,W,X,24,WX,W24X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00131273,0,0.0447667,0.881419
2370,P52945,E,K,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.13,,,,,,,,,4361,1851,ENSG00000139515,ENST00000381033,CCDS9327.1,PDX1,0.63,probably_damaging,0.999,deleterious,0,5.54185,35,P52945_E178K,E,K,178,EK,E178K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,0.000934591,0,0.0318715,0.875003
2383,Q9Y619,G,R,27,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,5922,8299,ENSG00000102743,ENST00000338625,CCDS9373.1,SLC25A15,0.09,probably_damaging,0.999,deleterious,0,3.41045,17.52,Q9Y619_G27R,G,R,27,GR,G27R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.00313241,0,0.106821,0.756444
2436,P35670,R,L,778,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,3583,32,ENSG00000123191,ENST00000418097,,ATP7B,0.56,probably_damaging,1,deleterious,0,4.89761,28.2,P35670_R778L,R,L,778,RL,R778L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.032,-3.575,2.543,,,,,,6.782,,44.98,0.000368291,0,0.0125595,0.841958
2437,P35670,R,G,778,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,3582,31,ENSG00000123191,ENST00000418097,,ATP7B,0.56,probably_damaging,1,deleterious,0,3.12304,16.44,P35670_R778G,R,G,778,RG,R778G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.032,-3.652,2.62,,,,,,2.173,,44.98,0.000368291,0,0.0125595,0.812582
2441,P35670,G,S,710,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,3378,174,ENSG00000123191,ENST00000418097,,ATP7B,0.51,probably_damaging,0.999,deleterious,0,4.45285,23.7,P35670_G710S,G,S,710,GS,G710S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.457,-2.95,1.493,,,,,,6.23,6.23,49.76,0.000444143,0,0.0151462,0.951636
2473,P02462,G,R,1423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,1066,467,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0.85,,,deleterious,0,2.93544,15.78,P02462_G1423R,G,R,1423,GR,G1423R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,2.58e-05,0,0.000878361,0.793499
2475,P02462,G,D,1130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,132687,25492,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0.68,probably_damaging,1,deleterious,0,3.28513,17.03,P02462_G1130D,G,D,1130,GD,G1130D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.611,-3.717,3.106,,,,,,0.426,,9.83,0.000342451,0,0.0116783,0.766919
2480,P02462,G,R,519,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,119839,38340,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0.31,,,deleterious,0,3.29134,17.06,P02462_G519R,G,R,519,GR,G519R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.741,-3.808,3.067,,,,,,,,,0.000194761,0,0.00664176,0.788138
2487,P00491,E,K,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,1171,17,ENSG00000198805,ENST00000553591,,PNP,0.58,probably_damaging,0.998,deleterious,0,4.62312,25.3,P00491_E128K,E,K,128,EK,E128K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.0026876,0,0.0916528,0.963428
2509,Q9UM01,G,V,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,1945,30,ENSG00000155465,ENST00000557129,,SLC7A7,0.51,probably_damaging,1,deleterious,0,4.88584,28,Q9UM01_G54V,G,V,54,GV,G54V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.089,-3.443,2.354,,,,,,4.12,,74.76,0.000322717,0,0.0110053,0.859449
2510,Q9UM01,M,L,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.54,0,,,,,,,,,1785,7,ENSG00000155465,ENST00000555959,,SLC7A7,0.03,benign,0.008,,,0.723356,7.848,Q9UM01_M1L,M,L,1,ML,M1L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-1.803,-2.49,0.687,,,,,,3.047,,71.82,0.00134698,0.00196078,0.0459348,1.09342
2532,P12883,E,K,483,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,7088,15893,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.25,possibly_damaging,0.5,deleterious,0.02,4.94731,28.7,P12883_E483K,E,K,483,EK,E483K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.404,-2.689,1.285,0.016,H,A,1.3,0,,,,0.000139623,0,0.00476142,0.74714
2544,Q9BSI4,R,G,291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,11,6,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.65,probably_damaging,0.997,deleterious,0,2.64605,14.81,Q9BSI4_R291G,R,G,291,RG,R291G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.101,-3.214,2.113,,,,,,,,,0.00172859,0,0.0589484,0.742213
2545,Q9BSI4,F,L,288,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,20,15,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.64,benign,0.005,tolerated,0.44,1.20072,9.878,Q9BSI4_F288L,F,L,288,FL,F288L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.559,-1.97,0.411,,,,,,30.891,30.891,82.26,0.00400514,0,0.136584,1.00382
2546,Q9BSI4,L,P,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,22,17,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.64,probably_damaging,0.999,deleterious,0,3.40684,17.51,Q9BSI4_L287P,L,P,287,LP,L287P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.972,-3.96,2.988,,,,,,,,,0.0020253,0,0.069067,0.778607
2565,P22735,G,R,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,175,4530,ENSG00000092295,ENST00000206765,CCDS9622.1,TGM1,0.34,probably_damaging,0.997,deleterious,0,4.91458,28.4,P22735_G278R,G,R,278,GR,G278R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.000304983,0,0.0104006,0.78896
2610,P06737,K,T,681,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,1951,1888,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.8,probably_damaging,0.998,deleterious,0,4.79967,27.1,P06737_K681T,K,T,681,KT,K681T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.265,-3.157,1.892,0.076,H,A,2.12,-0.94,,,,0.000221391,0,0.00754989,0.633612
2619,P06737,G,D,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,499,4014,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.28,probably_damaging,1,deleterious,0,3.97217,20.3,P06737_G233D,G,D,233,GD,G233D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,0.011,.,B,0.46,-0.9,,,,0.000125931,0,0.0042945,0.598198
2654,Q96NR8,T,M,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,2077,9901,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.16,probably_damaging,0.98,deleterious,0,5.03013,29.7,Q96NR8_T49M,T,M,49,TM,T49M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.067,-4.297,3.23,,,,,,,,,0.00486417,0,0.165878,0.768359
2666,Q68DK2,R,X,1438,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,0,0,0,,,,,,33741,22058,ENSG00000072121,ENST00000555452,,ZFYVE26,0.65,,,,,11.229,44,Q68DK2_R1438X,R,X,1438,RX,R1438X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2726,P16473,T,I,477,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,26927,2815,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.62,probably_damaging,1,deleterious,0,3.80087,19.3,P16473_T477I,T,I,477,TI,T477I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-0.964,-3.853,2.889,,,,,,2.1,,69.63,0.000834066,0,0.0284434,0.859685
2746,Q9UBX5,S,P,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.11,,,,,,,,,59822,17210,ENSG00000140092,ENST00000556154,,FBLN5,0.51,probably_damaging,0.989,deleterious,0,4.39909,23.3,Q9UBX5_S232P,S,P,232,SP,S232P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,,,,0.953006
2747,Q9UBX5,C,R,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,59792,17240,ENSG00000140092,ENST00000556154,,FBLN5,0.49,probably_damaging,0.992,deleterious,0,4.59696,25,Q9UBX5_C222R,C,R,222,CR,C222R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,,,,0.932506
2753,P08185,D,N,389,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,0,0,0.001,,,,,,18849,222,ENSG00000170099,ENST00000341584,CCDS9924.1,SERPINA6,0.96,possibly_damaging,0.903,tolerated,0.17,2.65607,14.84,P08185_D389N,D,N,389,DN,D389N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.141,-3.347,2.206,0.024,E,B,0.14,-0.91,1.437,,62.47,0.00954078,0,0.32536,0.604101
2755,P01011,L,P,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,2269,614,ENSG00000196136,ENST00000393078,CCDS32150.1,SERPINA3,0.18,probably_damaging,1,deleterious,0,2.93244,15.77,P01011_L78P,L,P,78,LP,L78P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.201,-4.097,2.896,0.015,H,A,1.07,-0.71,1.058,,65.48,0.00414526,0,0.141362,0.545001
2806,P20807,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.54,0.07,,,,,,,,,33051,11651,ENSG00000092529,ENST00000397163,CCDS45245.1,CAPN3,,,,,,3.62579,18.45,P20807_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
2816,Q8IWY9,N,S,599,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,511,7713,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.49,benign,0.117,tolerated,0.11,3.05299,16.19,Q8IWY9_N599S,N,S,599,NS,N599S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.24,-2.259,1.019,,,,,,9.195,9.195,77.83,0.00100194,0,0.0341684,0.982012
2877,P09493,E,K,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,70,12939,ENSG00000140416,ENST00000560970,,TPM1,0.13,benign,0.185,tolerated,0.11,4.14533,21.4,P09493_E35K,E,K,35,EK,E35K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
2880,P23284,Q,X,151,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,,,,,,,,,3322,24,ENSG00000166794,ENST00000300026,CCDS10191.1,PPIB,0.7,,,,,5.42541,35,P23284_Q151X,Q,X,151,QX,Q151X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00125169,0,0.0426853,0.904853
2882,Q02750,F,S,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,48267,9863,ENSG00000169032,ENST00000307102,CCDS10216.1,MAP2K1,0.13,probably_damaging,0.982,deleterious,0,4.75429,26.6,Q02750_F53S,F,S,53,FS,F53S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.524,-3.292,1.768,,,,,,,,,0.0023476,0.00294118,0.0800581,0.857614
2884,Q02750,Y,C,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,50006,8124,ENSG00000169032,ENST00000307102,CCDS10216.1,MAP2K1,0.33,probably_damaging,0.998,deleterious,0,4.57693,24.9,Q02750_Y130C,Y,C,130,YC,Y130C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.437,-4.544,3.107,,,,,,,,,0.00242948,0,0.0828501,0.755388
2895,P06865,W,R,496,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,286,108,ENSG00000213614,ENST00000566304,,HEXA,0.92,probably_damaging,0.998,deleterious,0,4.57527,24.8,P06865_W496R,W,R,496,WR,W496R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00532656,0,0.181647,0.938121
2896,P06865,E,K,493,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,277,117,ENSG00000213614,ENST00000566304,,HEXA,0.91,probably_damaging,0.997,deleterious,0,5.78787,36,P06865_E493K,E,K,493,EK,E493K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00507839,0,0.173183,0.952667
2899,P06865,L,V,462,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0,,,,,,,,,416,70,ENSG00000213614,ENST00000566304,,HEXA,0.86,probably_damaging,0.991,deleterious,0,4.32904,22.7,P06865_L462V,L,V,462,LV,L462V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,,,,,,,,,,,,0.0017858,0,0.0608993,0.967744
2907,P06865,G,D,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,9880,7,ENSG00000213614,ENST00000566304,,HEXA,0.48,probably_damaging,0.996,deleterious,0,5.64732,36,P06865_G261D,G,D,261,GD,G261D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.763,-3.324,2.561,0.034,S,B,0.46,0.24,,,,0.00168092,0,0.0573227,0.671112
2942,P34949,R,Q,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,0,0,0,,,,,,2756,61,ENSG00000178802,ENST00000352410,CCDS10272.1,MPI,0.52,probably_damaging,0.961,deleterious,0.03,5.08564,31,P34949_R219Q,R,Q,219,RQ,R219Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.00296621,0,0.101154,0.827147
2970,P54098,G,R,1051,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,1778,216,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.85,probably_damaging,0.978,deleterious,0.05,4.20039,21.8,P54098_G1051R,G,R,1051,GR,G1051R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.005,-3.238,2.233,,,,,,13.106,13.106,68.6,0.000959531,0,0.032722,0.841636
2995,Q9H267,L,P,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,353,1541,ENSG00000184056,ENST00000333371,CCDS10369.1,VPS33B,0.05,probably_damaging,0.994,deleterious,0,4.40553,23.3,Q9H267_L30P,L,P,30,LP,L30P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,,,,,,,,,0.00123809,0,0.0422215,0.725416
2999,P08069,R,Q,511,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.11,0.002,0,0.002,0.001,,0.003,,0.001,10774,15,ENSG00000140443,ENST00000558762,,IGF1R,0.37,benign,0.042,tolerated,0.39,3.06352,16.23,P08069_R511Q,R,Q,511,RQ,R511Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.724,-2.305,0.581,,,,,,14.711,14.711,68.76,0.000450898,0,0.0153766,1.01711
3017,P51798,I,F,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,2036,35,ENSG00000103249,ENST00000448525,CCDS45378.1,CLCN7,0.3,probably_damaging,0.984,deleterious,0,2.59015,14.62,P51798_I237F,I,F,237,IF,I237F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,,,,,,,,,,,,0.00147447,0,0.0502824,0.928464
3049,O15553,K,R,695,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,0.003,0,0.004,0.003,,0.003,,0.01,13185,262,ENSG00000103313,ENST00000219596,CCDS10498.1,MEFV,0.89,benign,0.126,tolerated,0.18,0.419829,6.28,O15553_K695R,K,R,695,KR,K695R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.662,-2.648,0.986,0.513,E,B,1.14,0.31,18.546,18.546,60.05,0.00438796,0,0.149638,0.831642
3050,O15553,M,V,694,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,0,0,0,,,,,,13181,266,ENSG00000103313,ENST00000219596,CCDS10498.1,MEFV,0.89,benign,0.217,tolerated,0.19,-0.077319,3.622,O15553_M694V,M,V,694,MV,M694V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.957,-3.031,1.074,0.484,E,A,0.11,-0.05,4.479,,62.61,0.00362406,0,0.123588,0.834927
3140,O95255,R,Q,1164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,60427,12875,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.77,benign,0.217,tolerated,0.24,2.74478,15.14,O95255_R1164Q,R,Q,1164,RQ,R1164Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.338,-3.617,1.279,,,,,,17.934,17.934,83.23,0.00043428,0,0.0148099,0.979482
3141,O95255,R,X,1164,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,0,0,0,,,,,,60426,12876,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.77,,,,,8.9615,41,O95255_R1164X,R,X,1164,RX,R1164X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00043428,0,0.0148099,0.977351
3214,O95255,R,Q,487,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,0.001,,0.003,,,33096,8634,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.32,probably_damaging,1,deleterious,0,3.72286,18.91,O95255_R487Q,R,Q,487,RQ,R487Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.793,-2.702,1.909,,,,,,7.259,7.259,33.93,0.000163148,0,0.0055637,0.923067
3230,O95255,L,F,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,0,0,0,,,,,,14667,6768,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.17,benign,0.119,tolerated,0.45,-1.07766,0.165,O95255_L252F,L,F,252,LF,L252F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.569,-1.53,-0.039,,,,,,30.954,30.954,54.96,0.00059573,0,0.0203156,1.01365
3304,Q9HC29,E,K,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,13918,107,ENSG00000167207,ENST00000300589,CCDS10746.1,NOD2,0.37,probably_damaging,1,deleterious,0,4.89202,28.1,Q9HC29_E383K,E,K,383,EK,E383K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.005,-2.863,1.858,,,,,,,,,0.000137945,0,0.0047042,0.904402
3310,Q9NSC2,Q,X,323,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.04,,,,,,,,,9343,3923,ENSG00000103449,ENST00000251020,CCDS10747.1,SALL1,0.24,,,,,5.24278,33,Q9NSC2_Q323X,Q,X,323,QX,Q323X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3389,#N/A,R,X,477,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.09,,,,,,,,,15,6620,ENSG00000127688,ENST00000248272,CCDS10935.1,GAN,0.8,,,,,8.48677,40,#N/A_R477X,R,X,477,RX,R477X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3417,P34059,N,K,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,1628,20,ENSG00000141012,ENST00000268695,CCDS10970.1,GALNS,0.39,benign,0.25,tolerated,0.22,1.14088,9.648,P34059_N204K,N,K,204,NK,N204K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.321,-3.131,1.81,,,,,,3.066,,67.24,0.00327003,0,0.111515,0.939904
3437,Q6P2Q9,F,L,2304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,372,58,ENSG00000174231,ENST00000572621,CCDS11010.1,PRPF8,0.99,possibly_damaging,0.855,deleterious,0,4.37862,23.1,Q6P2Q9_F2304L,F,L,2304,FL,F2304L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.87,-2.511,0.641,,,,,,,,,,,,0.921528
3438,Q6P2Q9,P,T,2301,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,361,69,ENSG00000174231,ENST00000572621,CCDS11010.1,PRPF8,0.99,probably_damaging,1,deleterious,0,3.73956,18.99,Q6P2Q9_P2301T,P,T,2301,PT,P2301T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.458,-3.025,1.567,0.038,.,B,0.3,-0.41,,,,,,,0.748828
3467,O60931,G,R,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.12,0,0,0,,,,,,23548,407,ENSG00000040531,ENST00000046640,CCDS11031.1,CTNS,0.92,probably_damaging,0.999,deleterious,0,4.71236,26.2,O60931_G339R,G,R,339,GR,G339R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.00625576,0,0.213334,0.731681
3483,P13929,G,E,374,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,0,0,0,,,,,,459,493,ENSG00000108515,ENST00000518175,CCDS11062.1,ENO3,0.86,probably_damaging,0.997,deleterious,0,4.49933,24.1,P13929_G374E,G,E,374,GE,G374E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.008,-3.347,2.339,,S,B,0.75,-0.44,,,,0.00208475,0,0.0710941,0.57518
3489,P49748,K,Q,2,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,1,39,ENSG00000072778,ENST00000542255,,ACADVL,0.01,,,,,2.61478,14.7,P49748_K2Q,K,Q,2,KQ,K2Q,PositiveCharge,Polar,9.74,6.24,-3.5,146,146,0,168.6,143.8,-24.8,53,,,,,,,,,,,,0.000163446,0,0.00557385,0.995102
3493,P49748,R,H,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,59,137,ENSG00000072778,ENST00000542255,,ACADVL,0.25,,,,,1.75527,11.83,P49748_R70H,R,H,70,RH,R70H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00233433,0.0034188,0.0796053,0.985208
3495,P49748,R,W,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,0,0,0,,,,,,65,193,ENSG00000072778,ENST00000542255,,ACADVL,0.32,,,,,1.32777,10.36,P49748_R89W,R,W,89,RW,R89W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00119384,0,0.0407125,0.911329
3504,O75352,L,P,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,276,217,ENSG00000129255,ENST00000581380,,MPDU1,0.72,,,,,2.13361,13.09,O75352_L109P,L,P,109,LP,L109P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.252,-3.875,2.623,,,,,,0.878,,51.42,0.0071521,0,0.243901,0.763883
3510,P04637,R,H,273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,0.001,,,,0.001,215,267,ENSG00000141510,ENST00000420246,CCDS45606.1,TP53,0.8,benign,0.424,tolerated,0.14,3.53251,18.03,P04637_R273H,R,H,273,RH,R273H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.047,-2.503,1.456,0.256,E,B,1.03,0,23.242,23.242,65.65,0.00192505,0,0.0656481,0.852665
3517,P04637,G,D,245,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,642,12,ENSG00000141510,ENST00000413465,,TP53,0.86,probably_damaging,0.999,deleterious,0,4.83815,27.5,P04637_G245D,G,D,245,GD,G245D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.645,-3.566,2.921,0.184,T,a,0.46,0,1.822,,59.29,0.00132358,0,0.0451369,0.653274
3518,P04637,C,Y,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,651,17,ENSG00000141510,ENST00000413465,,TP53,0.85,probably_damaging,1,deleterious,0,4.43078,23.6,P04637_C242Y,C,Y,242,CY,C242Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-0.794,-4.221,3.427,0.143,.,b,0.25,0,,,,0.000672155,0,0.0229219,0.618136
3519,P04637,S,F,241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,654,14,ENSG00000141510,ENST00000413465,,TP53,0.85,probably_damaging,1,deleterious,0,3.40403,17.5,P04637_S241F,S,F,241,SF,S241F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-0.768,-4.125,3.357,0.648,T,A,0.85,0,,,,0.000704604,0,0.0240284,0.760625
3520,P04637,Y,S,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,248,245,ENSG00000141510,ENST00000413465,,TP53,0.77,probably_damaging,0.957,deleterious,0,4.44775,23.7,P04637_Y220S,Y,S,220,YS,Y220S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,-0.895,-3.674,2.779,0.16,.,B,0.48,0,2.083,,62.6,0.000783654,0,0.0267242,0.639787
3521,P04637,A,V,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,155,152,ENSG00000141510,ENST00000413465,,TP53,0.66,probably_damaging,0.924,tolerated,0.05,3.19005,16.68,P04637_A189V,A,V,189,AV,A189V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.2,-2.555,1.355,0.087,.,B,0.44,0,14.044,14.044,65.65,0.00191425,0,0.0652799,0.827761
3527,Q02846,F,S,565,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,6937,10809,ENSG00000132518,ENST00000254854,CCDS11127.1,GUCY2D,0.51,probably_damaging,0.935,deleterious,0,3.87737,19.7,Q02846_F565S,F,S,565,FS,F565S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.658,-3.494,1.836,,,,,,2.092,,49.77,0.00111454,0,0.0380082,0.898214
3536,Q9BYJ1,R,X,234,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.03,0,0,0,,,,,,6313,15802,ENSG00000179148,ENST00000448843,CCDS11130.1,ALOXE3,0.33,,,,,8.37327,40,Q9BYJ1_R234X,R,X,234,RX,R234X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00153696,0,0.0524136,0.900587
3568,Q8N5M1,W,R,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,10800,165,ENSG00000171953,ENST00000497871,,ATPAF2,0.8,,,,,2.57614,14.57,Q8N5M1_W94R,W,R,94,WR,W94R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.198,-3.935,2.737,,,,,,,,,0.00225229,0,0.0768077,0.775028
3587,Q8IUD6,R,H,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0,0,0,,,,,,14137,306,ENSG00000181481,ENST00000328381,CCDS11262.1,RNF135,0.66,benign,0,tolerated,0.54,0.751296,7.982,Q8IUD6_R286H,R,H,286,RH,R286H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.593,-3.009,0.416,,,,,,17.046,17.046,72.45,0.00315143,0,0.10747,1.05605
3590,P21359,L,R,844,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0,,,,,,,,,4063,25147,ENSG00000196712,ENST00000358273,CCDS42292.1,NF1,0.3,probably_damaging,0.982,deleterious,0,4.40746,23.4,P21359_L844R,L,R,844,LR,L844R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.347,-3.615,2.268,,,,,,,,,,,,0.772704
3612,#N/A,R,X,177,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.08,,,,,,,,,5564,52201,ENSG00000108753,ENST00000560016,,HNF1B,0.32,,,,,7.38753,39,#N/A_R177X,R,X,177,RX,R177X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3618,P10827,S,I,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,5429,39,ENSG00000126351,ENST00000264637,CCDS11360.1,THRA,0.09,probably_damaging,0.999,deleterious,0,5.25964,33,P10827_S45I,S,I,45,SI,S45I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-1.348,-3.521,2.173,,,,,,,,,0.00125916,0,0.0429399,0.734613
3649,P02533,Y,X,204,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,62,1161,ENSG00000186847,ENST00000167586,CCDS11400.1,KRT14,0.43,,,,,6.297,37,P02533_Y204X,Y,X,204,YX,Y204X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00182363,0,0.0621895,0.954408
3674,P54802,R,X,297,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,0,0,0,,,,,,5141,3373,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.4,,,,,5.89316,36,P54802_R297X,R,X,297,RX,R297X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00273697,0,0.0933363,0.951177
3729,P02730,V,M,557,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,12338,7419,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.61,benign,0.204,tolerated,0.14,1.50563,10.98,P02730_V557M,V,M,557,VM,V557M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-2.306,-3.56,1.254,,,,,,15.148,15.148,93.52,0.00172075,0,0.0586813,0.970454
3751,P08514,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.54,0.07,,,,,,,,,10795,6528,ENSG00000005961,ENST00000353281,,ITGA2B,,,,,,1.08745,9.439,P08514_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3752,P08514,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.54,0.07,,,,,,,,,10794,6529,ENSG00000005961,ENST00000353281,,ITGA2B,,,,,,1.47424,10.88,P08514_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3781,P05106,R,W,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,32466,5125,ENSG00000259207,ENST00000435993,,ITGB3,0.26,probably_damaging,0.996,deleterious,0.02,3.91507,19.91,P05106_R193W,R,W,193,RW,R193W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00131912,0,0.0449847,0.910399
3788,P05106,R,X,703,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.11,0,0,0,0.001,,,0.002,,16030,4110,ENSG00000259207,ENST00000435993,,ITGB3,0.94,,,,,7.66721,39,P05106_R703X,R,X,703,RX,R703X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00181612,0,0.0619335,0.960194
3836,P02452,G,D,275,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0,,,,,,,,,56,131,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.19,,,deleterious,0,4.00772,20.5,P02452_G275D,G,D,275,GD,G275D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,,,,0,,,,2.38e-05,0,0.000813155,0.661018
3838,P02452,G,R,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,432,507,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.18,,,deleterious,0,3.99969,20.5,P02452_G263R,G,R,263,GR,G263R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,0,,,,2.4e-05,0,0.000817547,0.639147
3883,P35499,V,M,1589,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,31402,2963,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.87,probably_damaging,0.998,deleterious,0,4.0347,20.7,P35499_V1589M,V,M,1589,VM,V1589M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-0.903,-3.969,3.066,,,,,,,,,0.000215684,0,0.00735527,0.829463
3892,P35499,M,V,1360,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,29883,4482,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.74,possibly_damaging,0.807,deleterious,0.03,3.98328,20.4,P35499_M1360V,M,V,1360,MV,M1360V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.195,-2.855,1.66,,,,,,0.343,,3.1,8.51e-05,0,0.0029006,0.883388
3896,P35499,N,K,1297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,28225,6140,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.71,probably_damaging,0.998,deleterious,0,3.88392,19.74,P35499_N1297K,N,K,1297,NK,N1297K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.041,-3.212,2.171,,,,,,0.216,,4.79,6.98e-05,0,0.00237942,0.808107
3911,P35499,V,M,445,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,8332,26033,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.24,probably_damaging,0.997,deleterious,0,4.26424,22.2,P35499_V445M,V,M,445,VM,V445M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.052,-4.038,2.986,,,,,,1.617,,89.49,3.84e-05,0,0.00130971,0.872669
3912,P35499,I,V,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,722,724,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.08,benign,0.007,tolerated,0.34,1.66936,11.54,P35499_I141V,I,V,141,IV,I141V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.271,-2.092,0.821,,,,,,18.462,18.462,68.57,0.000249435,0,0.00850625,0.989772
3953,Q15067,Q,R,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,25605,6892,ENSG00000161533,ENST00000537812,CCDS54168.1,ACOX1,0.44,probably_damaging,1,deleterious,0,5.07578,31,Q15067_Q271R,Q,R,271,QR,Q271R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,,,,0.956783
3954,Q15067,M,V,240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,25511,6986,ENSG00000161533,ENST00000537812,CCDS54168.1,ACOX1,0.39,probably_damaging,0.94,deleterious,0,4.89667,28.2,Q15067_M240V,M,V,240,MV,M240V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,,,,0.948715
4001,Q15583,T,A,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0,0,0,,,,,,2158,3,ENSG00000177426,ENST00000345133,CCDS11835.1,TGIF1,0.52,benign,0.003,tolerated,0.12,-0.398971,2.132,Q15583_T131A,T,A,131,TA,T131A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,0.00212458,0.00740741,0.0724525,0.971642
4002,Q15583,S,F,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,2192,2,ENSG00000177426,ENST00000345133,CCDS11835.1,TGIF1,0.56,probably_damaging,0.924,deleterious,0,2.20205,13.32,Q15583_S142F,S,F,142,SF,S142F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.146,-3.884,2.738,,,,,,,,,0.00146226,0,0.0498659,0.703256
4043,Q16787,Q,X,2988,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.01,,,,,,,,,66302,15742,ENSG00000053747,ENST00000313654,CCDS42419.1,LAMA3,0.9,,,,,16.0404,49,Q16787_Q2988X,Q,X,2988,QX,Q2988X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
4056,P02766,D,G,38,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,1062,607,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.26,probably_damaging,1,deleterious,0,3.59442,18.3,P02766_D38G,D,G,38,DG,D38G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.059,-2.7,1.641,0.018,E,B,0.46,-0.79,20.464,20.464,40.14,0.00725172,0,0.247299,0.678427
4057,P02766,V,I,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,1067,602,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.27,probably_damaging,0.956,deleterious,0.01,3.75004,19.04,P02766_V40I,V,I,40,VI,V40I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-2.127,-4.015,1.888,0.65,T,A,0.04,-0.78,5.48,,48.3,0.0124469,0,0.424466,0.803072
4058,P02766,V,M,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,1097,572,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.34,probably_damaging,0.974,deleterious,0,2.70949,15.02,P02766_V50M,V,M,50,VM,V50M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.367,-3.636,2.269,,E,B,0.11,-0.62,3.746,3.746,82.99,0.00982695,0,0.335119,0.729645
4059,P02766,V,L,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,1097,572,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.34,benign,0.098,tolerated,0.68,0.103332,4.556,P02766_V50L,V,L,50,VL,V50L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.367,-1.71,0.343,,E,B,0.11,-0.62,20.436,20.436,82.99,0.00982695,0,0.335119,0.937231
4060,P02766,V,A,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,1098,571,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.34,benign,0.279,deleterious,0,1.94834,12.47,P02766_V50A,V,A,50,VA,V50A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.367,-2.722,1.355,,E,B,0.44,-0.62,17.734,17.734,82.99,0.00982695,0,0.335119,0.827649
4061,P02766,V,G,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,1098,571,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.34,probably_damaging,0.953,deleterious,0,2.48254,14.26,P02766_V50G,V,G,50,VG,V50G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.367,-4.003,2.636,,E,B,0.73,-0.62,4.798,,82.99,0.00982695,0,0.335119,0.635987
4065,P02766,E,G,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,1134,535,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.42,possibly_damaging,0.461,tolerated,0.08,1.69678,11.63,P02766_E62G,E,G,62,EG,E62G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-2.287,-3.951,1.664,0.54,E,B,0.75,0.68,7.357,,93.88,0.0118844,0,0.405283,0.903333
4066,P02766,F,S,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,1140,529,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.44,probably_damaging,0.968,deleterious,0.01,3.00122,16.01,P02766_F64S,F,S,64,FS,F64S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-2.393,-3.978,1.585,0.201,E,a,0.85,-0.19,2.262,,58.5,0.00950547,0,0.324156,0.669461
4128,Q6UXH8,R,C,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,0,0,0,,,,,,13421,31610,ENSG00000183287,ENST00000439986,CCDS32838.1,CCBE1,0.39,possibly_damaging,0.897,deleterious,0,3.23258,16.83,Q6UXH8_R158C,R,C,158,RC,R158C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.825,-2.538,0.713,,,,,,37.14,37.14,89.9,0.00174542,0,0.0595225,0.956735
4136,P32245,A,V,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,1075,363,ENSG00000166603,ENST00000299766,CCDS11976.1,MC4R,0.66,possibly_damaging,0.856,deleterious,0,5.23884,33,P32245_A219V,A,V,219,AV,A219V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,0.000883603,0,0.0301327,0.912316
4205,P06213,R,Q,1020,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,168519,13227,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.74,probably_damaging,0.996,deleterious,0,5.3587,34,P06213_R1020Q,R,Q,1020,RQ,R1020Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.338,G,A,0.56,-0.68,,,,0.000606278,0,0.0206753,0.835743
4243,P50570,L,H,570,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,101938,11887,ENSG00000079805,ENST00000359692,CCDS45968.1,DNM2,0.66,probably_damaging,0.987,deleterious,0.02,4.55675,24.7,P50570_L570H,L,H,570,LH,L570H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.347,-4.587,3.24,0.058,E,B,0.72,0,,,,4.12e-05,0,0.0014059,0.600187
4283,O00555,R,H,1660,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,17379,3992,ENSG00000141837,ENST00000573710,,CACNA1A,0.66,probably_damaging,0.994,,,3.57141,18.2,O00555_R1660H,R,H,1660,RH,R1660H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000304568,0,0.0103864,1.0021
4291,O00555,V,A,713,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,202645,96267,ENSG00000141837,ENST00000573710,,CACNA1A,0.28,possibly_damaging,0.766,,,3.74914,19.04,O00555_V713A,V,A,713,VA,V713A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,,,,,,,,,,,,4.14e-05,0,0.00141161,0.998214
4348,P82251,V,M,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.11,,,,,,,,,536,244,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.35,probably_damaging,1,deleterious,0,4.84965,27.6,P82251_V170M,V,M,170,VM,V170M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.201,-3.807,2.606,,,,,,,,,0.00138401,0,0.0471975,0.75321
4414,O95571,R,W,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,0,0,0,,,,,,15790,4735,ENSG00000105755,ENST00000292147,CCDS12622.1,ETHE1,0.64,probably_damaging,1,deleterious,0,3.85242,19.57,O95571_R163W,R,W,163,RW,R163W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,,,,0.762927
4435,P02655,K,Q,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0,0.007,0.019,0,0.01,,,0.03,,3186,386,ENSG00000234906,ENST00000252490,CCDS12650.1,APOC2,0.76,probably_damaging,0.997,deleterious,0,2.71721,15.05,P02655_K77Q,K,Q,77,KQ,K77Q,PositiveCharge,Polar,9.74,6.24,-3.5,146,146,0,168.6,143.8,-24.8,53,-1.407,-2.263,0.856,,,,,,13.556,13.556,66.34,0.0301322,0,1.02757,0.930426
4529,O14901,T,M,203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,0.016,0.046,0,0.01,,,0.03,,3751,117,ENSG00000172059,ENST00000540845,CCDS54333.1,KLF11,0.41,possibly_damaging,0.447,tolerated,0.1,2.16414,13.19,O14901_T203M,T,M,203,TM,T203M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00184338,0,0.0628629,0.973545
4542,O15232,A,P,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.11,,,,,,,,,6514,13115,ENSG00000132031,ENST00000407540,CCDS46226.1,MATN3,0.26,probably_damaging,0.999,deleterious,0.01,4.97131,29,O15232_A128P,A,P,128,AP,A128P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.083,-2.187,1.104,,,,,,22.395,22.395,45.27,0.000861048,0,0.0293635,0.970703
4560,P55084,R,H,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,18706,546,ENSG00000138029,ENST00000545822,,HADHB,0.5,possibly_damaging,0.449,deleterious,0.04,5.2505,33,P55084_R225H,R,H,225,RH,R225H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00194528,0,0.0663381,0.983511
4602,P47989,R,X,228,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,,,,,,,,,3109,3524,ENSG00000158125,ENST00000379416,CCDS1775.1,XDH,0.17,,,,,2.54531,14.47,P47989_R228X,R,X,228,RX,R228X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000845698,0,0.0288401,0.977351
4630,Q16678,R,H,368,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,0.002,0.001,0.002,0.001,,,,0.003,554,75,ENSG00000138061,ENST00000407341,CCDS1793.1,CYP1B1,0.68,probably_damaging,0.99,deleterious,0,4.58507,24.9,Q16678_R368H,R,H,368,RH,R368H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.064,-4.105,3.041,0.41,S,b,1.03,0.67,,,,0.00130513,0,0.0445077,0.768554
4641,Q9H222,R,X,243,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.08,,,,,,,,,12322,13586,ENSG00000138075,ENST00000260645,CCDS1814.1,ABCG5,0.37,,,,,6.2942,37,Q9H222_R243X,R,X,243,RX,R243X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4650,Q9H221,Y,X,658,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.11,,,,,,,,,38901,602,ENSG00000143921,ENST00000272286,CCDS1815.1,ABCG8,0.98,,,,,6.81165,38,Q9H221_Y658X,Y,X,658,YX,Y658X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0142977,0,0.48758,0.925965
4720,O75923,Q,X,622,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,86369,133578,ENSG00000135636,ENST00000409582,CCDS46324.1,DYSF,0.29,,,,,10.0325,43,O75923_Q622X,Q,X,622,QX,Q622X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,6.72e-05,0,0.00229008,0.989951
4724,P35270,Q,X,119,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.04,,,,,,,,,982,3390,ENSG00000116096,ENST00000234454,CCDS1920.1,SPR,0.46,,,,,3.68115,18.7,P35270_Q119X,Q,X,119,QX,Q119X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0085707,0,0.292279,0.915713
4732,Q16854,R,K,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,19980,166,ENSG00000114956,ENST00000264093,CCDS1931.1,DGUOK,0.51,probably_damaging,0.997,deleterious,0,5.60794,36,Q16854_R142K,R,K,142,RK,R142K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,-1.23,-2.761,1.531,0.124,S,g,1.14,-0.94,4.872,,89.89,0.00183271,0,0.0624994,0.770257
4740,O43464,G,S,399,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0.003,0,0.005,0.002,,,,0.01,2087,94,ENSG00000115317,ENST00000258080,CCDS1951.1,HTRA2,0.87,probably_damaging,0.924,deleterious,0.02,4.43609,23.6,O43464_G399S,G,S,399,GS,G399S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.297,-3.02,1.723,,,,,,4.76,,91.05,0.00474102,0,0.161678,0.960701
4754,Q9H902,R,X,120,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.11,,,,,,,,,2982,433,ENSG00000068615,ENST00000538924,CCDS54374.1,REEP1,0.58,,,,,5.21191,33,Q9H902_R120X,R,X,120,RX,R120X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4763,Q6P4Q7,Q,X,51,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.04,,,,,,,,,787,120,ENSG00000158158,ENST00000540067,,CNNM4,0.19,,,,,6.65819,38,Q6P4Q7_Q51X,Q,X,51,QX,Q51X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00102832,0,0.0350678,0.912628
4777,Q16281,R,W,440,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,0,0,0,,,,,,19188,869,ENSG00000144191,ENST00000409937,,CNGA3,0.63,probably_damaging,0.999,deleterious,0,2.38887,13.95,Q16281_R440W,R,W,440,RW,R440W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000290572,0,0.00990912,0.987856
4778,Q16281,V,M,533,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,0,0,0,,,,,,19467,590,ENSG00000144191,ENST00000409937,,CNGA3,0.76,probably_damaging,0.999,deleterious,0,3.67322,18.67,Q16281_V533M,V,M,533,VM,V533M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00101031,0,0.0344537,0.935731
4784,Q9UNE0,E,X,386,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.11,,,,,,,,,92076,2716,ENSG00000135960,ENST00000409271,,EDAR,0.8,,,,,7.26869,38,Q9UNE0_E386X,E,X,386,EX,E386X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00163066,0,0.0556089,0.902682
4806,O00499,K,N,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,30316,28648,ENSG00000136717,ENST00000351659,CCDS2140.1,BIN1,0.07,probably_damaging,0.961,deleterious,0,2.83073,15.43,O00499_K35N,K,N,35,KN,K35N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-0.882,-3.516,2.634,,,,,,1.922,,90.73,0.000424229,0,0.0144671,0.865866
4847,P20929,E,X,367,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,,,,,,,,,2802,713,ENSG00000183091,ENST00000397336,,NEB,0.73,,,,,5.02962,29.7,P20929_E367X,E,X,367,EX,E367X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
4932,Q13562,R,L,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.17,,,,,,,,,2019,2062,ENSG00000162992,ENST00000295108,CCDS2283.1,NEUROD1,0.31,probably_damaging,1,deleterious,0,5.63499,36,Q13562_R111L,R,L,111,RL,R111L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.281,-3.135,1.854,,,,,,,,,0.00141224,0,0.0481603,0.812633
4969,Q92851,V,I,343,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0.049,0.016,0.066,0.03,,0.05,,0.06,23597,8367,ENSG00000003400,ENST00000313728,CCDS56159.1,CASP10,0.75,possibly_damaging,0.82,tolerated,0.44,1.80581,12,Q92851_V343I,V,I,343,VI,V343I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,,,,0.959636
4995,P07320,W,X,157,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,2774,121,ENSG00000118231,ENST00000264376,CCDS2378.1,CRYGD,0.9,,,,,2.8304,15.43,P07320_W157X,W,X,157,WX,W157X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00825429,0,0.281488,0.88359
5017,P02751,W,R,1835,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,887,979,ENSG00000115414,ENST00000432072,,FN1,0.81,probably_damaging,1,deleterious,0,4.94653,28.7,P02751_W1835R,W,R,1835,WR,W1835R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.000163857,0,0.00558787,0.97957
5022,Q9NZC9,R,W,586,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,60,2,ENSG00000138375,ENST00000357276,CCDS2403.1,SMARCAL1,0.61,probably_damaging,1,deleterious,0,4.28543,22.4,Q9NZC9_R586W,R,W,586,RW,R586W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.101,-5.178,4.077,,,,,,,,,0.00146051,0,0.0498064,0.7024
5098,Q01955,G,E,1015,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,904,978,ENSG00000169031,ENST00000396578,CCDS42829.1,COL4A3,0.61,,,deleterious,0,2.19941,13.31,Q01955_G1015E,G,E,1015,GE,G1015E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.164,-3.399,2.235,,,,,,1.708,1.708,6.41,,,,0.770818
5105,Q07001,W,X,78,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,1245,1478,ENSG00000135902,ENST00000258385,CCDS2494.1,CHRND,0.15,,,,,5.61587,36,Q07001_W78X,W,X,78,WX,W78X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000763762,0,0.0260459,0.956807
5106,Q07001,I,K,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,1247,1476,ENSG00000135902,ENST00000258385,CCDS2494.1,CHRND,0.15,possibly_damaging,0.6,deleterious,0,4.46875,23.9,Q07001_I79K,I,K,79,IK,I79K,Hydrophobic,PositiveCharge,6.02,9.74,3.72,131,146,15,166.7,168.6,1.9,102,-1.598,-3.633,2.035,,E,b,2.82,0,3.292,,90.52,0.00212752,0,0.0725529,0.657167
5278,P04156,Y,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,13112,217,ENSG00000171867,ENST00000424424,,PRNP,0.58,,,,,3.85663,19.59,P04156_Y145X,Y,X,145,YX,Y145X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00717385,0,0.244643,0.908484
5296,P78504,R,H,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,3896,20852,ENSG00000101384,ENST00000423891,,JAG1,0.02,probably_damaging,1,deleterious,0,5.38046,34,P78504_R25H,R,H,25,RH,R25H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.746,-4.164,2.418,,,,,,0.798,,68.56,3.39e-05,0,0.00115763,0.877563
5392,Q9UJQ4,R,X,905,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,13519,4625,ENSG00000101115,ENST00000217086,CCDS13438.1,SALL4,0.86,,,,,8.58341,41,Q9UJQ4_R905X,R,X,905,RX,R905X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000742025,0,0.0253046,0.977351
5393,Q9UJQ4,H,R,888,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.11,,,,,,,,,13469,4675,ENSG00000101115,ENST00000217086,CCDS13438.1,SALL4,0.84,probably_damaging,0.997,deleterious,0,3.5003,17.89,Q9UJQ4_H888R,H,R,888,HR,H888R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.086,-3.358,2.272,,,,,,,,,0.000998469,0,0.0340499,0.764883
5404,O95467,R,W,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,272,22,ENSG00000087460,ENST00000371085,CCDS13472.1,GNAS,0.65,probably_damaging,1,tolerated,0.07,4.24423,22.1,O95467_R258W,R,W,258,RW,R258W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
5502,Q01196,Y,X,196,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,87777,7621,ENSG00000159216,ENST00000399240,,RUNX1,0.5,,,,,5.84232,36,Q01196_Y196X,Y,X,196,YX,Y196X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00356604,0,0.121609,0.945391
5511,P50747,V,M,550,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,201429,13852,ENSG00000159267,ENST00000399120,CCDS13647.1,HLCS,0.76,probably_damaging,1,deleterious,0,4.70643,26.1,P50747_V550M,V,M,550,VM,V550M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.004,-3.905,2.901,,,,,,,,,0.00186298,0,0.0635313,0.807443
5535,P04080,Q,P,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.11,,,,,,,,,2020,17,ENSG00000160213,ENST00000291568,CCDS13701.1,CSTB,0.72,possibly_damaging,0.465,deleterious,0.02,1.54679,11.13,P04080_Q71P,Q,P,71,QP,Q71P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.851,-3.687,1.836,,,,,,2.297,,86.73,0.016611,0,0.566469,0.907972
5536,P04080,R,X,68,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.11,0,0,0,,,,,,2010,27,ENSG00000160213,ENST00000291568,CCDS13701.1,CSTB,0.69,,,,,2.03018,12.75,P04080_R68X,R,X,68,RX,R68X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0146837,0,0.500745,0.933515
5556,P12109,G,D,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,9055,14259,ENSG00000142156,ENST00000361866,CCDS13727.1,COL6A1,0.33,probably_damaging,0.994,deleterious,0,3.41164,17.53,P12109_G341D,G,D,341,GD,G341D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.000255145,0,0.00870096,0.808386
5602,P35240,E,X,498,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,,,,,,,,,77444,2473,ENSG00000186575,ENST00000403435,,NF2,0.89,,,,,9.14646,41,P35240_E498X,E,X,498,EX,E498X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00349167,0,0.119073,0.953272
5659,P17050,R,W,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,6207,1238,ENSG00000198951,ENST00000396398,CCDS14030.1,NAGA,0.8,probably_damaging,0.999,deleterious,0,3.34342,17.26,P17050_R329W,R,W,329,RW,R329W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.302,-5.193,3.891,,E,B,1.67,-0.02,0.299,,63.99,0.00421502,0,0.143741,0.568435
5660,P17050,E,K,325,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,0.003,0.001,0.004,,,,,,6195,1250,ENSG00000198951,ENST00000396398,CCDS14030.1,NAGA,0.79,possibly_damaging,0.601,deleterious,0.02,3.83179,19.46,P17050_E325K,E,K,325,EK,E325K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.452,-3.031,1.579,0.075,E,B,1.3,0.39,5.608,,83.94,0.00553127,0,0.188628,0.763532
5745,Q8NBK3,S,X,227,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.08,,,,,,,,,105053,84,ENSG00000144455,ENST00000458465,,SUMF1,0.94,,,,,4.75622,26.6,Q8NBK3_S227X,S,X,227,SX,S227X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00291268,0,0.0993284,0.953542
5747,Q8NBK3,R,W,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,105022,115,ENSG00000144455,ENST00000458465,,SUMF1,0.9,probably_damaging,0.928,deleterious,0,4.4026,23.3,Q8NBK3_R217W,R,W,217,RW,R217W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00333305,0,0.113664,0.960989
5748,Q8NBK3,A,P,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,105019,118,ENSG00000144455,ENST00000458465,,SUMF1,0.89,probably_damaging,0.92,deleterious,0,5.29663,34,Q8NBK3_A216P,A,P,216,AP,A216P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.242,-3.495,2.253,0.243,H,A,0.52,-1.02,1.029,,38.77,0.00264277,0,0.0901238,0.594909
5826,Q9Y215,E,X,214,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.03,,,,,,,,,27936,4211,ENSG00000206561,ENST00000383788,CCDS33709.1,COLQ,0.47,,,,,6.66237,38,Q9Y215_E214X,E,X,214,EX,E214X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00133288,0,0.0454541,0.902682
5827,Q9Y215,S,X,169,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.03,,,,,,,,,2140,219,ENSG00000206561,ENST00000383788,CCDS33709.1,COLQ,0.37,,,,,5.56329,35,Q9Y215_S169X,S,X,169,SX,S169X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00380428,0,0.129734,0.953542
5842,P10828,Q,H,340,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,37973,4785,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.74,possibly_damaging,0.669,deleterious,0.03,4.32904,22.7,P10828_Q340H,Q,H,340,QH,Q340H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-1.489,-3.966,2.477,0.05,H,A,0.47,-0.91,,,,0.00124213,0,0.0423591,0.593461
5843,P10828,T,A,337,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,37962,4796,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.73,benign,0.258,deleterious,0.01,4.26678,22.3,P10828_T337A,T,A,337,TA,T337A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.428,-2.733,1.305,0.388,E,B,0.22,-1.07,2.515,,55.31,0.00375333,0,0.127996,0.684584
5846,P10828,R,C,320,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,37911,4847,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.69,probably_damaging,0.994,deleterious,0,5.34247,34,P10828_R320C,R,C,320,RC,R320C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.038,T,a,1.66,-0.26,,,,0.00166692,0,0.0568454,0.533789
5853,P37173,T,M,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,0,0,0,0.01,0.02,,,,65526,22008,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.56,benign,0.121,tolerated,0.06,2.00016,12.65,P37173_T315M,T,M,315,TM,T315M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.782,-2.693,0.911,,,,,,13.112,13.112,80.95,,,,0.948663
5884,P16278,G,R,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,3867,30,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.14,probably_damaging,1,deleterious,0,4.17057,21.6,P16278_G93R,G,R,93,GR,G93R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00264534,0,0.0902115,0.945499
5888,P16278,I,T,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,79,3718,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.03,probably_damaging,0.996,deleterious,0,4.80647,27.2,P16278_I21T,I,T,21,IT,I21T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,0.00011157,0,0.00380478,1.0014
5908,Q14524,R,H,1772,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,0,0,0,,,,,,82422,574,ENSG00000183873,ENST00000449557,,SCN5A,0.9,probably_damaging,0.972,tolerated,0.06,4.29516,22.5,Q14524_R1772H,R,H,1772,RH,R1772H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
5924,Q14524,R,W,1178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,66762,16234,ENSG00000183873,ENST00000449557,,SCN5A,0.6,probably_damaging,0.981,deleterious,0,3.35222,17.29,Q14524_R1178W,R,W,1178,RW,R1178W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
6005,Q96AA3,R,C,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,0,0,0,,,,,,6621,19749,ENSG00000163933,ENST00000296292,CCDS2869.1,RFT1,0.12,probably_damaging,1,deleterious,0.01,5.46197,35,Q96AA3_R67C,R,C,67,RC,R67C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.00100344,0,0.0342194,0.701376
6134,P41180,L,V,616,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,29638,1488,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.57,possibly_damaging,0.88,deleterious,0,2.95674,15.86,P41180_L616V,L,V,616,LV,L616V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-0.951,-2.402,1.451,,,,,,9.216,9.216,36.18,0.000319874,0,0.0109083,0.941578
6142,P41180,R,W,795,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,30175,951,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.74,probably_damaging,0.999,deleterious,0,3.12014,16.43,P41180_R795W,R,W,795,RW,R795W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.75,-5.473,4.723,,,,,,0.161,,32.84,0.000467372,0,0.0159383,0.805229
6205,P02787,D,N,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,5467,304,ENSG00000091513,ENST00000466911,,TF,0.44,probably_damaging,0.989,deleterious,0.01,4.53124,24.4,P02787_D33N,D,N,33,DN,D33N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00160209,0,0.0546346,0.925198
6215,P05166,T,I,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,67089,146,ENSG00000114054,ENST00000462637,,PCCB,0.78,probably_damaging,0.982,deleterious,0,4.43265,23.6,P05166_T405I,T,I,405,TI,T405I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,,,,0.9508
6352,Q13144,R,X,422,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,,,,,,,,,77,12,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.59,,,,,3.94003,20.1,Q13144_R422X,R,X,422,RX,R422X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00151801,0,0.0517674,0.900587
6374,Q9H3D4,R,W,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,74578,111,ENSG00000073282,ENST00000392461,,TP63,0.36,probably_damaging,0.999,deleterious,0,4.7642,26.7,Q9H3D4_R149W,R,W,149,RW,R149W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000557885,0,0.019025,0.987856
6382,Q9H3D4,R,G,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.11,,,,,,,,,78840,4935,ENSG00000073282,ENST00000392461,,TP63,0.62,possibly_damaging,0.717,deleterious,0.01,3.54126,18.07,Q9H3D4_R258G,R,G,258,RG,R258G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00139891,0,0.0477056,0.878036
6386,Q9Y5I7,M,R,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,211,16600,ENSG00000113946,ENST00000264734,CCDS3296.1,CLDN16,0.23,possibly_damaging,0.556,deleterious,0,2.69488,14.97,Q9Y5I7_M71R,M,R,71,MR,M71R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.644,-3.657,2.013,,,,,,1.525,,83.28,0.00346518,0.0042735,0.11817,0.90284
6478,Q9NRM0,R,W,351,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,17659,10481,ENSG00000109667,ENST00000506583,CCDS3406.1,SLC2A9,0.69,probably_damaging,1,deleterious,0,3.56984,18.19,Q9NRM0_R351W,R,W,351,RW,R351W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
6679,P03952,W,X,450,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.03,,,,,,,,,1045,87,ENSG00000164344,ENST00000511608,,KLKB1,0.66,,,,,5.94255,36,P03952_W450X,W,X,450,WX,W450X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00130551,0,0.0445208,0.881419
6687,P03951,T,N,352,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,18203,4614,ENSG00000088926,ENST00000264692,,F11,0.61,possibly_damaging,0.642,deleterious,0.01,2.24623,13.47,P03951_T352N,T,N,352,TN,T352N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,,,,,,,,,,,,0.00170453,0,0.0581279,0.926844
6703,O14746,H,Q,876,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,35,40,ENSG00000164362,ENST00000310581,CCDS3861.2,TERT,0.77,probably_damaging,1,deleterious,0,1.87254,12.22,O14746_H876Q,H,Q,876,HQ,H876Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.372,-3.613,2.241,,,,,,0.769,,23.23,0.00140819,0,0.0480223,0.834057
6741,P43003,P,R,290,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,713,6599,ENSG00000079215,ENST00000265113,CCDS3919.1,SLC1A3,0.54,probably_damaging,0.995,deleterious,0,4.09278,21.1,P43003_P290R,P,R,290,PR,P290R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.115,-3.668,2.553,,,,,,,,,0.000713141,0,0.0243196,0.806888
6877,O76082,P,L,478,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,3638,1086,ENSG00000197375,ENST00000245407,CCDS4154.1,SLC22A5,0.86,probably_damaging,1,deleterious,0,5.09759,31,O76082_P478L,P,L,478,PL,P478L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.000609277,0,0.0207776,0.81599
6893,Q15582,F,S,540,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,1237,2410,ENSG00000120708,ENST00000442011,CCDS47266.1,TGFBI,0.79,probably_damaging,1,deleterious,0,4.80681,27.2,Q15582_F540S,F,S,540,FS,F540S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.241,-3.388,2.147,0.006,.,B,0.85,0,,,,0.00140933,0,0.0480609,0.673244
6902,Q9UH77,P,T,419,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,294,6448,ENSG00000146021,ENST00000506491,,KLHL3,0.83,possibly_damaging,0.804,tolerated,0.88,2.88174,15.6,Q9UH77_P419T,P,T,419,PT,P419T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,0.00224969,0,0.076719,0.979804
6903,Q9UH77,A,T,412,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,273,6469,ENSG00000146021,ENST00000506491,,KLHL3,0.82,possibly_damaging,0.658,deleterious,0,5.75299,36,Q9UH77_A412T,A,T,412,AT,A412T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00112293,0,0.0382941,0.925816
6923,Q9UBF9,T,I,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,2945,5374,ENSG00000120729,ENST00000239926,CCDS4194.1,MYOT,0.11,benign,0.005,tolerated,0.05,3.04802,16.17,Q9UBF9_T57I,T,I,57,TI,T57I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.747,-3.504,1.757,,,,,,3.14,,82.53,0.000257424,0,0.0087787,0.970541
6924,Q9UBF9,S,C,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,2954,5365,ENSG00000120729,ENST00000239926,CCDS4194.1,MYOT,0.12,possibly_damaging,0.891,deleterious,0.03,4.38643,23.2,Q9UBF9_S60C,S,C,60,SC,S60C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.348,-4.373,3.025,,,,,,,,,0.000200392,0,0.0068338,0.813467
6925,Q9UBF9,S,F,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,0,0,0,,,,,,2954,5365,ENSG00000120729,ENST00000239926,CCDS4194.1,MYOT,0.12,benign,0.391,deleterious,0.01,3.62935,18.46,Q9UBF9_S60F,S,F,60,SF,S60F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.348,-3.803,2.455,,,,,,,,,0.000200392,0,0.0068338,0.801061
6978,P23415,S,R,259,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,73308,1834,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.57,probably_damaging,0.999,deleterious,0,3.09763,16.35,P23415_S259R,S,R,259,SR,S259R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.519,-3.39,1.871,,,,,,,,,0.000689195,0,0.023503,0.881767
7069,P15924,N,K,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,6156,376,ENSG00000096696,ENST00000379802,CCDS4501.1,DSP,0.1,probably_damaging,0.99,deleterious,0,4.35777,23,P15924_N287K,N,K,287,NK,N287K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.079,-3.049,1.97,0.331,H,A,1.73,-1.03,,,,,,,0.575447
7164,Q9Y253,Q,X,373,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,11572,5065,ENSG00000170734,ENST00000372226,,POLH,0.9,,,,,6.35534,37,Q9Y253_Q373X,Q,X,373,QX,Q373X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00105233,0,0.0358865,0.912628
7173,Q13950,W,X,283,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,89792,34933,ENSG00000124813,ENST00000359524,CCDS4913.1,RUNX2,0.56,,,,,6.66406,38,Q13950_W283X,W,X,283,WX,W283X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0025189,0,0.0858998,0.940601
7230,O95389,C,X,70,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.03,,,,,,,,,182,8561,ENSG00000112761,ENST00000361714,CCDS5097.1,WISP3,0.19,,,,,4.75206,26.6,O95389_C70X,C,X,70,CX,C70X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
7250,P17302,S,P,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,11207,2829,ENSG00000152661,ENST00000282561,CCDS5123.1,GJA1,0.05,probably_damaging,0.999,deleterious,0,4.83066,27.4,P17302_S18P,S,P,18,SP,S18P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.348,-3.39,2.042,,,,,,,,,0.000924177,0,0.0315163,0.858443
7302,Q8NF91,E,K,2985,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0.001,0.001,0.001,0.001,,,,0.003,7737,17422,ENSG00000131018,ENST00000356820,,SYNE1,0.9,possibly_damaging,0.481,tolerated,0.09,4.58253,24.9,Q8NF91_E2985K,E,K,2985,EK,E2985K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
7395,P10071,G,R,727,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0.005,0.001,0.008,0.002,0.002,,0.002,0.004,184607,3766,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.46,probably_damaging,0.999,deleterious,0.01,4.65616,25.6,P10071_G727R,G,R,727,GR,G727R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.812,-2.867,2.055,,,,,,19.227,19.227,85.32,0.000331378,0,0.0113007,0.891426
7402,P10071,R,W,625,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,5356,127,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.4,probably_damaging,1,deleterious,0,4.55858,24.7,P10071_R625W,R,W,625,RW,R625W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.965,-3.165,2.2,0.667,H,a,1.67,-0.68,6.474,6.474,45.51,0.000126331,0,0.00430815,0.736093
7404,P10071,Q,X,496,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,128975,59398,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.31,,,,,8.16385,40,P10071_Q496X,Q,X,496,QX,Q496X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000241165,0,0.00822421,0.98231
7434,P20711,S,R,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,10690,1647,ENSG00000132437,ENST00000426377,CCDS56485.1,DDC,0.17,probably_damaging,0.982,deleterious,0,4.636,25.4,P20711_S69R,S,R,69,SR,S69R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,0.00135079,0,0.0460647,0.898854
7505,P08123,G,C,646,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,24,986,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.47,,,deleterious,0,3.98367,20.4,P08123_G646C,G,C,646,GC,G646C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.861,-4.864,4.003,,,,,0,,,,1.86e-05,0,0.000634039,0.639288
7538,O60568,N,S,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,921,809,ENSG00000106397,ENST00000421736,,PLOD3,0.21,benign,0.029,tolerated,0.05,3.18625,16.66,O60568_N56S,N,S,56,NS,N56S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,,,,0.952307
7589,P13569,E,G,187,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0,0,0,0.01,0.01,,,0.01,55223,131754,ENSG00000001626,ENST00000426809,,CFTR,0.13,benign,0.388,deleterious,0.03,3.42202,17.57,P13569_E187G,E,G,187,EG,E187G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,,,,,,,,,,,,0.000153979,0,0.005251,0.965002
7694,P59533,I,V,296,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,0.463,0.478,0.456,0.55,0.65,0.64,0.52,0.45,970,173,ENSG00000257138,ENST00000547270,CCDS34765.1,TAS2R38,0.89,possibly_damaging,0.84,tolerated,0.22,0.758746,8.017,P59533_I296V,I,V,296,IV,I296V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.257,-1.705,0.448,,,,,,19.161,19.161,71.17,0.00297371,0,0.10141,1.10831
7696,P35523,S,C,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,719,10140,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.13,probably_damaging,0.96,deleterious,0,4.39826,23.3,P35523_S132C,S,C,132,SC,S132C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.239,-4.414,3.175,,,,,,,,,0.000491784,0,0.0167709,0.813467
7701,P35523,L,F,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,3012,6410,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.29,benign,0.195,tolerated,0.09,3.01233,16.05,P35523_L283F,L,F,283,LF,L283F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.117,-3.394,2.277,,,,,,,,,0.000941214,0,0.0320973,0.773659
7704,P35523,F,S,307,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,0,0,0,,,,,,9364,58,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.31,probably_damaging,0.997,deleterious,0,4.64669,25.5,P35523_F307S,F,S,307,FS,F307S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.241,-3.388,2.147,,,,,,,,,0.000452961,0,0.0154469,0.818825
7706,P35523,A,T,313,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,9381,41,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.32,probably_damaging,1,deleterious,0,5.1335,32,P35523_A313T,A,T,313,AT,A313T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,,,,,,,,,0.000196056,0,0.00668592,0.90655
7715,P35523,I,N,556,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,25887,10071,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.56,probably_damaging,0.998,deleterious,0,4.95095,28.8,P35523_I556N,I,N,556,IN,I556N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.313,-3.9,2.587,,,,,,,,,0.00069184,0,0.0235932,0.808688
7763,Q9UBY8,W,C,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,6911,272,ENSG00000182372,ENST00000331222,CCDS5956.1,CLN8,0.92,probably_damaging,0.999,deleterious,0,4.11079,21.2,Q9UBY8_W263C,W,C,263,WC,W263C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.036,-4.718,3.682,,,,,,,,,0.00402258,0,0.137178,0.733258
7786,P06858,Q,X,57,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.05,0,0,0,,,,,,12660,8,ENSG00000175445,ENST00000520959,,LPL,0.5,,,,,1.88804,12.27,P06858_Q57X,Q,X,57,QX,Q57X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00213686,0,0.0728712,0.964034
7851,P11362,R,L,379,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,426,296,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.52,benign,0.034,tolerated,0.19,3.16288,16.58,P11362_R379L,R,L,379,RL,R379L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00028914,0,0.00986028,0.980977
7859,P11362,A,S,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,1769,31,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.1,probably_damaging,0.986,deleterious,0.03,4.84769,27.6,P11362_A76S,A,S,76,AS,A76S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,,,,,,,,,,,,0.00105601,0,0.0360121,0.920826
7988,O43525,G,V,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,271806,46312,ENSG00000184156,ENST00000521134,CCDS56554.1,KCNQ3,0.25,probably_damaging,0.999,deleterious,0,4.78488,26.9,O43525_G190V,G,V,190,GV,G190V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.000360496,0,0.0122936,0.973283
7989,O43525,W,R,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,271802,46316,ENSG00000184156,ENST00000521134,CCDS56554.1,KCNQ3,0.25,probably_damaging,0.999,deleterious,0,4.33922,22.8,O43525_W189R,W,R,189,WR,W189R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.000335084,0,0.0114271,0.978382
7993,P01266,C,R,1077,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,1061,192,ENSG00000042832,ENST00000220616,CCDS34944.1,TG,0.39,probably_damaging,0.995,deleterious,0,2.51607,14.37,P01266_C1077R,C,R,1077,CR,C1077R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,0.000114289,0,0.0038975,0.790356
8027,P98155,R,X,257,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,21324,125,ENSG00000147852,ENST00000382100,CCDS6446.1,VLDLR,0.29,,,,,7.72461,39,P98155_R257X,R,X,257,RX,R257X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8033,P23378,R,H,739,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,0,0,0,,,,,,142,1336,ENSG00000178445,ENST00000321612,CCDS34987.1,GLDC,0.72,probably_damaging,0.999,deleterious,0.01,4.98983,29.2,P23378_R739H,R,H,739,RH,R739H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,,,,,,,,,0.0015707,0,0.0535641,0.747625
8074,Q9Y223,G,E,576,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,28996,2738,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.8,probably_damaging,1,deleterious,0,5.01647,29.6,Q9Y223_G576E,G,E,576,GE,G576E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.008,-3.347,2.339,,,,,,,,,0.00113063,0,0.0385569,0.734209
8094,Q9UBQ7,R,H,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,7705,8,ENSG00000137106,ENST00000318158,CCDS6609.1,GRHPR,0.92,probably_damaging,1,deleterious,0,4.93506,28.6,Q9UBQ7_R302H,R,H,302,RH,R302H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,0.009,H,A,1.03,-1.14,,,,0.0023347,0,0.0796181,0.550431
8164,Q13635,T,M,727,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0.007,0.022,0,0.004,,0.003,0.01,,372,121,ENSG00000185920,ENST00000375274,CCDS47995.1,PTCH1,0.5,benign,0.332,tolerated,0.22,2.70709,15.01,Q13635_T727M,T,M,727,TM,T727M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,,,,0.953797
8194,P05062,N,K,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,13876,1321,ENSG00000136872,ENST00000374855,CCDS6756.1,ALDOB,0.92,probably_damaging,0.993,deleterious,0,3.25628,16.92,P05062_N335K,N,K,335,NK,N335K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.26,-2.967,1.707,,H,A,1.73,-0.46,,,,0.00709615,0,0.241993,0.636837
8200,P05062,R,X,4,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.03,,,,,,,,,4878,5317,ENSG00000136872,ENST00000374855,CCDS6756.1,ALDOB,0.01,,,,,4.66554,25.7,P05062_R4X,R,X,4,RX,R4X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00283875,0.00555556,0.0968072,0.951177
8316,Q92574,H,Y,732,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,0.003,0.001,0.004,0.002,,,,0.01,22078,7584,ENSG00000165699,ENST00000298552,CCDS6956.1,TSC1,0.63,possibly_damaging,0.817,deleterious,0.01,4.82593,27.4,Q92574_H732Y,H,Y,732,HY,H732Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.748,-3.41,1.662,,,,,,1.066,,54.04,0.000864574,0,0.0294838,0.939658
8356,P51690,C,Y,517,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,29144,311,ENSG00000157399,ENST00000545496,,ARSE,0.84,probably_damaging,0.948,deleterious,0,2.06448,12.86,P51690_C517Y,C,Y,517,CY,C517Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00288461,0,0.098371,0.941339
8371,P23352,R,X,262,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.08,,,,,,,,,146848,56465,ENSG00000011201,ENST00000262648,CCDS14130.1,KAL1,0.39,,,,,6.34067,37,P23352_R262X,R,X,262,RX,R262X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000968167,0,0.0330165,0.908362
8373,P23352,R,X,257,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.07,,,,,,,,,146833,56480,ENSG00000011201,ENST00000262648,CCDS14130.1,KAL1,0.38,,,,,4.66612,25.7,P23352_R257X,R,X,257,RX,R257X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00151282,0,0.0515903,0.900587
8423,P08559,M,L,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.54,0.08,0.001,0.002,0.001,0.06,0.23,,,,282,1362,ENSG00000131828,ENST00000379804,,PDHA1,0.01,benign,0.107,tolerated,0.56,2.36985,13.88,P08559_M1L,M,L,1,ML,M1L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-2.733,-2.061,-0.672,,,,,,,,,0.00147277,0.00514139,0.0502244,0.924755
8424,P08559,R,H,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,301,1343,ENSG00000131828,ENST00000540249,CCDS55382.1,PDHA1,0.72,probably_damaging,1,deleterious,0,5.02227,29.6,P08559_R257H,R,H,257,RH,R257H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00269497,0,0.091904,0.975921
8427,P08559,R,H,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,2231,220,ENSG00000131828,ENST00000540249,CCDS55382.1,PDHA1,0.97,probably_damaging,0.991,deleterious,0,5.3876,34,P08559_R347H,R,H,347,RH,R347H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.0069888,0,0.238333,0.958435
8461,P51843,K,N,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.08,,,,,,,,,271,2397,ENSG00000169297,ENST00000453287,,NR0B1,0.95,probably_damaging,0.999,deleterious,0,3.32025,17.17,P51843_K382N,K,N,382,KN,K382N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-0.979,-3.323,2.344,,,,,,,,,0.00504922,0,0.172189,0.763559
8462,P51843,L,H,381,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,267,2401,ENSG00000169297,ENST00000453287,,NR0B1,0.95,probably_damaging,0.999,deleterious,0,4.20297,21.8,P51843_L381H,L,H,381,LH,L381H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-0.941,-4.78,3.839,,,,,,,,,0.00623301,0,0.212559,0.745366
8463,P51843,Y,D,380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,263,2405,ENSG00000169297,ENST00000453287,,NR0B1,0.95,probably_damaging,0.999,deleterious,0,4.04985,20.8,P51843_Y380D,Y,D,380,YD,Y380D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-0.99,-3.794,2.804,,,,,,,,,0.00655745,0,0.223622,0.706879
8822,P41732,P,H,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,0.001,0,0.001,,,,,,9682,39,ENSG00000156298,ENST00000545599,,TSPAN7,0.65,benign,0.225,tolerated,0.12,2.60582,14.67,P41732_P146H,P,H,146,PH,P146H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,,,,,,,,,,,,,,,0.949385
8877,Q15125,E,K,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.07,,,,,,,,,2140,3245,ENSG00000147155,ENST00000446158,,EBP,0.5,probably_damaging,0.999,deleterious,0,4.84332,27.6,Q15125_E80K,E,K,80,EK,E80K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.212,-2.014,0.802,,,,,,21.202,21.202,76.52,0.00283326,0.00666667,0.09662,0.978272
8936,Q99714,R,C,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,237,227,ENSG00000072506,ENST00000375304,CCDS35300.1,HSD17B10,0.52,probably_damaging,1,deleterious,0,4.15494,21.5,Q99714_R130C,R,C,130,RC,R130C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.442,-4.927,3.485,0.026,H,A,1.66,-0.51,0.793,,84.67,0.00293045,0.00763359,0.0999345,0.606406
8965,O43307,G,A,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,30552,86575,ENSG00000131089,ENST00000374878,,ARHGEF9,0.11,possibly_damaging,0.786,tolerated,0.24,4.07551,21,O43307_G53A,G,A,53,GA,G53A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,,,,,,,,,,,,,,,0.953551
8990,P10275,Y,C,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,148706,6342,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.6,possibly_damaging,0.551,tolerated,0.26,3.08123,16.29,P10275_Y232C,Y,C,232,YC,Y232C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.000382796,0,0.0130541,0.957538
9050,P08034,Y,C,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,695,60,ENSG00000169562,ENST00000447581,,GJB1,0.77,probably_damaging,1,deleterious,0,2.11679,13.03,P08034_Y65C,Y,C,65,YC,Y65C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,,H,A,0.25,-1.39,,,,0.00253745,0,0.0865321,0.561103
9055,P08034,R,W,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,925,171,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.5,probably_damaging,1,deleterious,0,2.36533,13.87,P08034_R142W,R,W,142,RW,R142W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,0.103,H,A,1.67,0.74,,,,0.0013959,0,0.0476032,0.60828
9098,P00558,L,P,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,7528,46,ENSG00000102144,ENST00000537456,,PGK1,0.15,probably_damaging,0.96,deleterious,0,4.02874,20.7,P00558_L60P,L,P,60,LP,L60P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,,E,B,1.07,-1.4,,,,0.00102582,0,0.0349825,0.521313
9116,P49335,K,X,202,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.13,,,,,,,,,667,840,ENSG00000196767,ENST00000373200,CCDS14450.1,POU3F4,0.56,,,,,6.00877,37,P49335_K202X,K,X,202,KX,K202X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00145503,0,0.0496194,0.904853
9117,P49335,L,W,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,1013,494,ENSG00000196767,ENST00000373200,CCDS14450.1,POU3F4,0.88,probably_damaging,1,deleterious,0,3.80384,19.31,P49335_L317W,L,W,317,LW,L317W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,-1.318,-4.828,3.51,0.226,.,B,0.08,0.68,0.293,,36.84,0.000967642,0,0.0329986,0.680858
9128,Q8TAB3,V,E,441,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.12,,,,,,,,,1322,115630,ENSG00000165194,ENST00000420881,CCDS48141.1,PCDH19,0.4,probably_damaging,0.995,deleterious,0,3.55094,18.11,Q8TAB3_V441E,V,E,441,VE,V441E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.201,-3.442,2.241,,,,,,,,,0.000375654,0,0.0128106,0.834581
9150,Q06187,C,R,506,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,703,410,ENSG00000010671,ENST00000308731,CCDS14482.1,BTK,0.77,probably_damaging,0.995,deleterious,0,3.45638,17.71,Q06187_C506R,C,R,506,CR,C506R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.863,-3.719,1.856,,H,A,1.66,-0.94,2.409,,60.85,0.000778644,0,0.0265534,0.579836
9208,P60201,R,W,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,619,1,ENSG00000123560,ENST00000303958,CCDS14513.1,PLP1,0.49,possibly_damaging,0.871,deleterious,0,3.63947,18.51,P60201_R137W,R,W,137,RW,R137W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.735,-5.003,3.268,,,,,,0.518,,70.04,0.00391784,0,0.133607,0.865513
9214,P60201,T,P,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,89,82,ENSG00000123560,ENST00000361621,CCDS14514.1,PLP1,0.61,benign,0.352,deleterious,0.04,2.12802,13.07,P60201_T147P,T,P,147,TP,T147P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.00297685,0.0153846,0.101517,0.968141
9321,P29400,G,R,558,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0,,,,,,,,,14969,29809,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.33,,,deleterious,0.04,3.88879,19.77,P29400_G558R,G,R,558,GR,G558R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,4.51e-05,0,0.00153747,0.793499
9323,P29400,G,A,567,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,14997,29781,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.34,,,deleterious,0.01,3.88614,19.75,P29400_G567A,G,A,567,GA,G567A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.921,-2.588,1.667,,,,,,,,,0.000245419,0,0.00836929,0.910335
9325,P29400,G,R,579,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,15032,29746,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.34,,,deleterious,0,4.11498,21.2,P29400_G579R,G,R,579,GR,G579R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.000215969,0,0.00736498,0.78896
9334,P29400,G,D,632,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,16325,28453,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.37,,,deleterious,0,4.22229,21.9,P29400_G632D,G,D,632,GD,G632D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,,,,,,,,7.55e-05,0,0.00257556,0.815326
9366,P29400,G,E,875,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.01,,,,,,,,,37881,6897,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.52,,,deleterious,0,3.74387,19.01,P29400_G875E,G,E,875,GE,G875E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,2.46e-05,0,0.000838118,0.811426
9388,P29400,G,X,138,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.01,,,,,,,,,3605,275,ENSG00000188153,ENST00000505728,,COL4A5,0.79,,,,,5.29941,34,P29400_G138X,G,X,138,GX,G138X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,2.48e-05,0,0.000846755,0.97622
9389,P29400,Q,X,139,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.01,,,,,,,,,3608,272,ENSG00000188153,ENST00000505728,,COL4A5,0.8,,,,,4.14762,21.4,P29400_Q139X,Q,X,139,QX,Q139X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,2.48e-05,0,0.00084638,0.989951
9396,P29400,G,V,1104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.03,,,,,,,,,215513,42147,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.65,,,deleterious,0.01,2.68325,14.93,P29400_G1104V,G,V,1104,GV,G1104V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,1.78e-05,0,0.000606353,0.806553
9455,O43602,R,W,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,9829,70372,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.53,probably_damaging,0.961,deleterious,0,4.04354,20.8,O43602_R192W,R,W,192,RW,R192W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.543,-5.203,3.66,0.474,S,B,1.67,0,0.268,,73.92,0.00233789,0,0.079727,0.715799
9458,O43602,R,H,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.13,,,,,,,,,784,106,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.22,probably_damaging,0.917,deleterious,0,5.08849,31,O43602_R78H,R,H,78,RH,R78H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000803759,0,0.0274098,1.00233
9462,O43602,S,R,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,690,200,ENSG00000077279,ENST00000371993,CCDS14557.1,DCX,0.13,benign,0.233,deleterious,0,3.25755,16.93,O43602_S47R,S,R,47,SR,S47R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-2.402,-2.558,0.156,,,,,,30.113,30.113,87.53,0.000193652,0,0.00660392,1.00494
9645,P22304,D,N,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.04,,,,,,,,,44,36,ENSG00000010404,ENST00000370443,,IDS,0.63,probably_damaging,1,deleterious,0,5.23074,33,P22304_D198N,D,N,198,DN,D198N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.985,-3.04,2.055,,,,,,,,,0.00163961,0,0.055914,0.784238
9657,P22304,N,D,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.05,,,,,,,,,10,739,ENSG00000010404,ENST00000370443,,IDS,0.2,probably_damaging,0.999,deleterious,0.02,4.49264,24.1,P22304_N63D,N,D,63,ND,N63D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.079,-2.836,1.757,,,,,,,,,0.0026843,0,0.0915401,0.898862
9660,Q13495,Q,X,245,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.54,0.04,,,,,,,,,628,286,ENSG00000013619,ENST00000426613,CCDS55525.1,MAMLD1,0.33,,,,,5.11055,32,Q13495_Q245X,Q,X,245,QX,Q245X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
9725,P51608,P,A,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,26397,4,ENSG00000169057,ENST00000303391,CCDS14741.1,MECP2,0.31,possibly_damaging,0.672,deleterious,0.01,3.82328,19.42,P51608_P152A,P,A,152,PA,P152A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.035,-2.855,1.82,0.301,G,A,0.52,0,,,,0.000881445,0,0.0300591,0.901865
9732,P04000,G,E,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.11,,,,,,,,,5904,180,ENSG00000102076,ENST00000442922,,OPN1LW,0.84,possibly_damaging,0.676,deleterious,0,3.76704,19.13,P04000_G138E,G,E,138,GE,G138E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00288793,0,0.0984844,0.949036
9789,O60832,S,G,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.54,0.09,,,,,,,,,704,243,ENSG00000130826,ENST00000437719,,DKC1,0.47,benign,0.296,tolerated,0.28,3.27852,17.01,O60832_S107G,S,G,107,SG,S107G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,,,,,,,,,,,,0.00238517,0,0.0813392,0.975509
270,P21817,Y,C,4859,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.55,0.09,,,,,,,,,146749,7116,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,2.39102,13.95,P21817_Y4859C,Y,C,4859,YC,Y4859C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
299,P10071,T,A,183,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.55,0.08,0.662,0.855,0.563,0.63,0.58,0.41,0.9,0.58,103831,8,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.12,benign,0,tolerated,1,0.054227,4.296,P10071_T183A,T,A,183,TA,T183A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-2.355,-1.752,-0.603,,,,,,26.253,26.253,53.42,0.00053988,0,0.0213511,1.01694
9,O75161,R,X,658,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.08,,,,,,,,,537,18293,ENSG00000131697,ENST00000378156,CCDS44052.1,NPHP4,0.46,,,,,9.34746,42,O75161_R658X,R,X,658,RX,R658X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000625324,0,0.0213248,0.977351
28,Q13148,S,N,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,280,455,ENSG00000120948,ENST00000439080,,TARDBP,0.72,benign,0.003,tolerated,0.41,1.44407,10.77,Q13148_S216N,S,N,216,SN,S216N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,0.00173209,0,0.0590679,0.930894
47,Q9Y5Z9,S,P,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,108,14393,ENSG00000120942,ENST00000376804,,UBIAD1,0.96,probably_damaging,0.998,deleterious,0.03,4.5716,24.8,Q9Y5Z9_S171P,S,P,171,SP,S171P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.348,-3.39,2.042,,,,,,,,,0.00452785,0,0.154409,0.809985
50,Q9Y5Z9,G,R,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,11736,2765,ENSG00000120942,ENST00000376810,CCDS129.1,UBIAD1,0.55,probably_damaging,0.936,deleterious,0.05,4.68632,25.9,Q9Y5Z9_G186R,G,R,186,GR,G186R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.00123331,0,0.0420582,0.704345
165,O75712,N,S,166,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,,,,,,,,,2839,1106,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.61,benign,0.001,tolerated,0.26,-0.106983,3.476,O75712_N166S,N,S,166,NS,N166S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.818,-2.005,0.187,,,,,,19.304,19.304,87.78,,,,0.98293
228,P06132,P,L,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,252,274,ENSG00000126088,ENST00000428106,,UROD,0.25,probably_damaging,0.997,deleterious,0,5.30452,34,P06132_P56L,P,L,56,PL,P56L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00208865,0,0.0712272,0.966041
238,Q9Y4U1,R,X,111,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.05,0,0,0,,,,,,868,1880,ENSG00000132763,ENST00000401061,CCDS41324.1,MMACHC,0.39,,,,,5.14816,32,Q9Y4U1_R111X,R,X,111,RX,R111X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00306053,0,0.10437,0.951177
315,P78363,R,Q,943,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,0.032,0.014,0.041,0.01,,0.01,0.002,0.04,74117,1372,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.41,benign,0.014,tolerated,0.25,1.51267,11.01,P78363_R943Q,R,Q,943,RQ,R943Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.63,-3.445,1.815,,,,,,4.826,,90.63,,,,0.913116
404,P06753,L,M,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,49,3522,ENSG00000143549,ENST00000328159,,TPM3,0.25,probably_damaging,0.973,deleterious,0,4.04553,20.8,P06753_L63M,L,M,63,LM,L63M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,,,,,,,,,,,,,,,0.961897
452,P04629,D,Y,638,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,0.001,0.002,,,,666,2307,ENSG00000198400,ENST00000392302,CCDS30890.1,NTRK1,0.84,probably_damaging,0.989,deleterious,0,4.24237,22.1,P04629_D638Y,D,Y,638,DY,D638Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.00142354,0,0.0485458,0.891863
465,P78508,R,X,199,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.05,,,,,,,,,358,1467,ENSG00000177807,ENST00000368089,CCDS1193.1,KCNJ10,0.53,,,,,6.2291,37,P78508_R199X,R,X,199,RX,R199X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00127427,0,0.0434553,0.900587
468,P78508,T,I,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,254,1571,ENSG00000177807,ENST00000368089,CCDS1193.1,KCNJ10,0.43,probably_damaging,0.987,tolerated,0.3,2.40992,14.02,P78508_T164I,T,I,164,TI,T164I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.907,-3.106,1.199,,,,,,8.491,,62.8,0.00231427,0,0.0789214,0.958388
484,P50993,W,R,887,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,7,538,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.87,probably_damaging,0.999,deleterious,0,4.31855,22.7,P50993_W887R,W,R,887,WR,W887R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.461,-3.84,2.379,0.026,H,A,1.67,0.63,,,,0.00143109,0,0.048803,0.6433
597,P01008,R,H,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,0,0,0,0.001,,,,0.003,60,2745,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.17,benign,0.278,deleterious,0,4.5163,24.3,P01008_R79H,R,H,79,RH,R79H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,0.286,H,A,1.03,-0.47,,,,0.00136358,0.00519481,0.0465009,0.671434
598,P01008,R,C,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,,,,,,,,,61,2746,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.17,probably_damaging,0.988,deleterious,0,4.3536,22.9,P01008_R79C,R,C,79,RC,R79C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.286,H,A,1.66,-0.47,,,,0.00136358,0.00519481,0.0465009,0.626281
599,P01008,R,S,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,,,,,,,,,61,2746,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.17,probably_damaging,0.957,deleterious,0,4.4123,23.4,P01008_R79S,R,S,79,RS,R79S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.184,-3.203,2.019,0.286,H,A,0.93,-0.47,,,,0.00136358,0.00519481,0.0465009,0.711231
706,O14896,R,C,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.01,,,,,,,,,5690,5751,ENSG00000117595,ENST00000456314,,IRF6,0.3,probably_damaging,1,deleterious,0,3.97171,20.3,O14896_R84C,R,C,84,RC,R84C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.572,-2.258,0.686,,,,,,39.119,39.119,80.94,0.000303983,0,0.0103664,0.961682
732,Q8NI60,Y,C,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,1358,1859,ENSG00000163050,ENST00000433743,,ADCK3,0.59,probably_damaging,0.919,deleterious,0,2.08372,12.92,Q8NI60_Y188C,Y,C,188,YC,Y188C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.0020911,0.0043573,0.0713108,0.940838
742,P68133,D,V,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.12,,,,,,,,,2265,580,ENSG00000143632,ENST00000366683,,ACTA1,0.71,probably_damaging,1,,,1.661,11.51,P68133_D206V,D,V,206,DV,D206V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.000466076,0,0.0158942,0.979956
868,P11226,R,C,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,0.05,0.012,0.069,0.03,,0.03,0.002,0.07,20,3192,ENSG00000165471,ENST00000373968,CCDS7247.1,MBL2,0.21,probably_damaging,0.984,deleterious,0,3.35276,17.29,P11226_R52C,R,C,52,RC,R52C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.384,-4.956,3.572,,,,,,1.301,,71.37,0.00428725,0.00510204,0.146204,0.889875
899,P61457,Q,X,98,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.07,0,0,0,,,,,,1927,41,ENSG00000166228,ENST00000299299,CCDS31217.1,PCBD1,0.94,,,,,3.56397,18.17,P61457_Q98X,Q,X,98,QX,Q98X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0252109,0.166667,0.859742,0.93981
935,Q8IWL1,F,S,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,3033,120,ENSG00000185303,ENST00000372325,CCDS41540.1,SFTPA2,0.8,probably_damaging,1,deleterious,0.01,1.32427,10.34,Q8IWL1_F198S,F,S,198,FS,F198S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.241,-3.388,2.147,0.077,E,B,0.85,-0.21,,,,0.00653829,0,0.222969,0.547225
936,Q00266,P,L,357,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,0,0,0,,,,,,665,1600,ENSG00000151224,ENST00000372213,CCDS7365.1,MAT1A,0.9,possibly_damaging,0.9,deleterious,0.01,4.19741,21.8,Q00266_P357L,P,L,357,PL,P357L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,,H,A,1.07,-0.46,,,,0.0027566,0,0.0940057,0.58388
1089,P21802,K,E,203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,,,,,,,,,11271,2710,ENSG00000066468,ENST00000336553,,FGFR2,0.3,possibly_damaging,0.849,deleterious,0,5.50297,35,P21802_K203E,K,E,203,KE,K203E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.000472862,0,0.0161256,0.993904
1091,P21802,W,G,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,,,,,,,,,11265,2716,ENSG00000066468,ENST00000336553,,FGFR2,0.3,benign,0.356,deleterious,0,3.86017,19.61,P21802_W201G,W,G,201,WG,W201G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,,,,,,,,,,,,0.00084686,0,0.0288797,0.946606
1092,P21802,W,R,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,,,,,,,,,11265,2716,ENSG00000066468,ENST00000336553,,FGFR2,0.3,probably_damaging,0.986,deleterious,0,4.72255,26.3,P21802_W201R,W,R,201,WR,W201R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00084686,0,0.0288797,0.978382
1305,P50461,S,R,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,0,0,0,,,,,,13762,6241,ENSG00000129170,ENST00000533783,CCDS7848.1,CSRP3,0.24,probably_damaging,1,deleterious,0,4.65548,25.6,P50461_S46R,S,R,46,SR,S46R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.348,-3.443,2.095,0.616,S,b,0.93,0,,,,0.00289801,0,0.0988283,0.735261
1323,P01225,Y,X,94,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.05,,,,,,,,,1819,1057,ENSG00000131808,ENST00000533718,CCDS7868.1,FSHB,0.73,,,,,3.20664,16.74,P01225_Y94X,Y,X,94,YX,Y94X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00654852,0,0.223318,0.912827
1357,P15918,D,G,429,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,6565,985,ENSG00000166349,ENST00000299440,CCDS7902.1,RAG1,0.41,possibly_damaging,0.846,deleterious,0,3.75923,19.09,P15918_D429G,D,G,429,DG,D429G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.895,-3.008,2.113,,,,,,,,,4.62e-05,0,0.00157601,0.849509
1378,Q93063,Q,X,172,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.05,,,,,,,,,211,177,ENSG00000151348,ENST00000358681,CCDS53619.1,EXT2,0.24,,,,,5.72331,36,Q93063_Q172X,Q,X,172,QX,Q172X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0013764,0,0.0469382,0.904853
1560,P50416,Y,X,579,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.08,,,,,,,,,620,10641,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.75,,,,,6.13881,37,P50416_Y579X,Y,X,579,YX,Y579X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00166426,0,0.0567546,0.8948
1628,Q13402,R,H,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.13,,,,,,,,,28602,28092,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.18,probably_damaging,1,deleterious,0,5.34955,34,Q13402_R212H,R,H,212,RH,R212H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.741,-4.329,3.588,,,,,,,,,,,,0.773629
1642,Q13402,D,G,1152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,5595,6174,ENSG00000137474,ENST00000458169,,MYO7A,0.85,probably_damaging,0.998,deleterious,0,4.01773,20.6,Q13402_D1152G,D,G,1152,DG,D1152G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,,,,0.942556
1745,P02511,Q,X,151,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.04,,,,,,,,,427,63,ENSG00000109846,ENST00000227251,CCDS8351.1,CRYAB,0.86,,,,,3.16602,16.59,P02511_Q151X,Q,X,151,QX,Q151X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0148847,0,0.5076,0.93981
1773,P02656,T,A,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,2949,209,ENSG00000110245,ENST00000375345,,APOC3,0.96,benign,0.039,tolerated,0.09,1.44019,10.76,P02656_T112A,T,A,112,TA,T112A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,,,,0.950942
1861,Q8IZU9,R,W,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,0,0,0,,,,,,18903,13311,ENSG00000149571,ENST00000529097,,KIRREL3,0.05,probably_damaging,0.928,deleterious,0.03,4.34951,22.9,Q8IZU9_R40W,R,W,40,RW,R40W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,,,,,,,,,0.000578613,0,0.0197319,0.811912
1875,Q9UKU7,G,S,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,0,0,0,,,,,,371,29,ENSG00000151498,ENST00000524502,,ACAD8,0.44,probably_damaging,0.999,deleterious,0,6.06457,37,Q9UKU7_G44S,G,S,44,GS,G44S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00353912,0,0.120691,0.96591
1923,P04275,R,W,816,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,88188,42608,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.29,probably_damaging,1,deleterious,0,4.2894,22.4,P04275_R816W,R,W,816,RW,R816W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.036,-5.502,3.466,,,,,,0.507,,15.04,9.55e-05,0,0.0032559,0.80456
1941,P37088,V,I,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,,,,0.001,,,0.002,,360,5,ENSG00000111319,ENST00000536788,,SCNN1A,0.85,possibly_damaging,0.621,deleterious,0.02,4.20733,21.8,P37088_V135I,V,I,135,VI,V135I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,0.000977507,0,0.033335,0.934271
2044,P02458,G,D,303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,10497,20418,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.2,,,deleterious,0,3.51258,17.94,P02458_G303D,G,D,303,GD,G303D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,0,,,,0.000160221,0,0.00546388,0.688253
2049,P02458,C,Y,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,4281,344,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.04,,,deleterious,0,3.75902,19.09,P02458_C57Y,C,Y,57,CY,C57Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-0.951,-4.188,3.237,,,,,,0.098,,5.58,0.000178433,0,0.00608493,0.756715
2114,P13647,I,S,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,198,64,ENSG00000186081,ENST00000551275,,KRT5,0.86,probably_damaging,0.995,deleterious,0,2.18632,13.27,P13647_I126S,I,S,126,IS,I126S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,,,,,,,,,,,,0.000318322,0,0.0108554,0.960395
2215,P00439,E,K,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,0,0,0,,,,,,559,9105,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.62,probably_damaging,1,deleterious,0,4.95669,28.9,P00439_E280K,E,K,280,EK,E280K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,0.214,S,B,1.3,-0.06,,,,0.000232903,0,0.00794246,0.81497
2217,P00439,S,F,273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,577,9125,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.6,probably_damaging,0.995,deleterious,0,5.08536,31,P00439_S273F,S,F,273,SF,S273F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.348,-3.803,2.455,0.576,T,A,0.85,-0.36,,,,0.0014435,0,0.0492263,0.693716
2384,Q9Y619,T,R,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,5938,8283,ENSG00000102743,ENST00000338625,CCDS9373.1,SLC25A15,0.11,probably_damaging,0.982,deleterious,0,2.34537,13.8,Q9Y619_T32R,T,R,32,TR,T32R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.32,-3.548,2.228,,,,,,1.495,,46.51,0.00316079,0,0.10779,0.856136
2440,P35670,D,N,765,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,3543,9,ENSG00000123191,ENST00000418097,,ATP7B,0.55,probably_damaging,0.999,deleterious,0.03,5.01909,29.6,P35670_D765N,D,N,765,DN,D765N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.138,-2.9,1.762,,,,,,18.809,18.809,44.98,0.00060215,0,0.0205345,0.940021
2489,P00491,A,P,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,1736,27,ENSG00000198805,ENST00000553591,,PNP,0.96,probably_damaging,0.985,deleterious,0,4.45776,23.8,P00491_A213P,A,P,213,AP,A213P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00161411,0,0.0550446,0.925827
2521,P12883,G,R,741,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,9959,13022,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.38,probably_damaging,0.987,deleterious,0,4.85961,27.8,P12883_G741R,G,R,741,GR,G741R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.371,-3.625,2.254,,,,,,2.564,,81.09,0.00013781,0,0.00469959,0.865539
2530,P12883,S,P,532,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.01,,,,,,,,,7840,15141,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.27,probably_damaging,0.93,deleterious,0,4.41974,23.5,P12883_S532P,S,P,532,SP,S532P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.348,-3.39,2.042,,H,A,0.25,0,,,,0.000183788,0,0.00626753,0.757297
2557,Q9BSI4,P,S,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,176,171,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.52,benign,0.034,tolerated,0.52,-0.051462,3.752,Q9BSI4_P236S,P,S,236,PS,P236S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.657,-3.399,1.742,,,,,,5.809,,76.72,0.00432173,0,0.14738,0.960939
2558,P22735,V,M,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,0.012,0.004,0.016,0.01,,0.003,,0.02,401,3,ENSG00000092295,ENST00000559136,,TGM1,1,probably_damaging,0.994,deleterious,0,3.93762,20.1,P22735_V209M,V,M,209,VM,V209M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.236,-3.84,2.604,,,,,,2.342,,47,0.00183222,0,0.0624825,0.864134
2559,P22735,D,G,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,955,557,ENSG00000092295,ENST00000559136,,TGM1,0.86,probably_damaging,0.986,deleterious,0,4.59959,25.1,P22735_D181G,D,G,181,DG,D181G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00189917,0,0.0647656,0.96506
2725,P16473,L,P,467,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,26957,2845,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.61,probably_damaging,1,deleterious,0,3.81014,19.35,P16473_L467P,L,P,467,LP,L467P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.622,-4.255,3.633,,,,,,,,,0.000273314,0,0.00932055,0.799794
2744,Q9UBX5,A,T,368,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,,,,,,,,,458,7358,ENSG00000140092,ENST00000556154,,FBLN5,0.81,benign,0.008,tolerated,0.05,3.17839,16.64,Q9UBX5_A368T,A,T,368,AT,A368T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,,,,0.956543
2825,Q9NRD8,R,X,842,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.01,,,,,,,,,9279,5147,ENSG00000140279,ENST00000389039,CCDS10117.1,DUOX2,0.54,,,,,10.4826,43,Q9NRD8_R842X,R,X,842,RX,R842X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2908,P06865,R,W,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,0.003,0.001,0.004,0.001,,,,0.003,9870,4,ENSG00000213614,ENST00000566304,,HEXA,0.48,probably_damaging,0.998,deleterious,0,4.42847,23.5,P06865_R258W,R,W,258,RW,R258W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000936938,0,0.0319515,0.953184
2961,P16930,R,G,381,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,3713,20,ENSG00000103876,ENST00000407106,CCDS10314.1,FAH,0.91,probably_damaging,0.995,deleterious,0,2.40362,14,P16930_R381G,R,G,381,RG,R381G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.281,-3.135,1.854,0.077,E,B,0.91,-0.02,,,,0.00164413,0,0.0560683,0.689481
2971,P54098,A,S,957,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,48,58,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.77,possibly_damaging,0.889,deleterious,0,5.08964,31,P54098_A957S,A,S,957,AS,A957S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-0.97,-2.264,1.294,,,,,,7.064,7.064,16.55,0.000440918,0,0.0150362,0.899166
3048,O15553,V,A,726,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,0.002,0,0.003,0.001,,,,0.001,13278,169,ENSG00000103313,ENST00000219596,CCDS10498.1,MEFV,0.93,benign,0.004,tolerated,1,-2.48765,0.003,O15553_V726A,V,A,726,VA,V726A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-2.661,-1.709,-0.952,0.642,T,A,0.44,-0.14,18.618,18.618,80.15,0.00309055,0,0.105394,0.949982
3053,O15553,H,Y,478,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,797,761,ENSG00000103313,ENST00000219596,CCDS10498.1,MEFV,0.61,benign,0.01,tolerated,0.18,-0.253503,2.781,O15553_H478Y,H,Y,478,HY,H478Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-2.622,-2.812,0.19,,,,,,27.148,27.148,85.53,0.0025945,0,0.0884777,1.01435
3064,Q9BT22,S,R,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,0.001,,,0.002,,3199,9611,ENSG00000033011,ENST00000544428,,ALG1,0.11,possibly_damaging,0.854,deleterious,0.01,5.16879,32,Q9BT22_S39R,S,R,39,SR,S39R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,0.000164752,0,0.00561839,0.975674
3121,O95255,E,K,1293,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,65767,7535,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.86,probably_damaging,0.999,deleterious,0,5.19584,33,O95255_E1293K,E,K,1293,EK,E1293K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.911,-3.324,2.413,,,,,,3.596,,41.72,0.000294624,0,0.0100473,0.855338
3204,O95255,R,C,600,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,0,0,0,,,,,,36242,5488,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.4,probably_damaging,1,deleterious,0,4.08366,21,O95255_R600C,R,C,600,RC,R600C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-0.775,-5.268,4.493,,,,,,0.683,,77.98,0.000122754,0,0.00418616,0.810215
3205,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.55,0.07,,,,,,,,,36195,5535,,ENSR00000664891,,,,,,,,0.38335,6.082,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3231,O95255,L,F,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,0.002,0.006,0.001,,,,,,14655,6780,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.17,possibly_damaging,0.822,deleterious,0,2.23456,13.43,O95255_L248F,L,F,248,LF,L248F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.689,-3.447,1.758,,,,,,15.67,15.67,80.64,0.000715648,0,0.0244051,0.963536
3236,P07911,C,R,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,2590,634,ENSG00000169344,ENST00000570689,CCDS10583.1,UMOD,0.49,probably_damaging,0.997,deleterious,0,3.91883,19.93,P07911_C315R,C,R,315,CR,C315R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.469,-3.998,2.529,,,,,,0.249,,12.19,0.00105576,0,0.0360037,0.697698
3322,P08253,Y,X,168,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.08,,,,,,,,,4120,100,ENSG00000087245,ENST00000543485,,MMP2,0.29,,,,,3.71821,18.88,P08253_Y168X,Y,X,168,YX,Y168X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000345417,0,0.0117794,0.970188
3340,P55017,L,P,858,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,0,0,0,,,,,,29347,18848,ENSG00000070915,ENST00000566786,CCDS45491.1,SLC12A3,0.83,possibly_damaging,0.766,deleterious,0,3.55846,18.14,P55017_L858P,L,P,858,LP,L858P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.0011523,0,0.0392959,0.913448
3365,P22223,N,I,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,2798,1328,ENSG00000062038,ENST00000429102,,CDH3,0.41,probably_damaging,1,deleterious,0,4.50033,24.2,P22223_N322I,N,I,322,NI,N322I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-0.879,-4.261,3.382,0.025,.,b,1.09,-1.28,1.085,,36.91,0.000404212,0,0.0137845,0.585996
3435,Q6P2Q9,H,R,2309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,386,44,ENSG00000174231,ENST00000572621,CCDS11010.1,PRPF8,0.99,probably_damaging,1,deleterious,0,4.36747,23,Q6P2Q9_H2309R,H,R,2309,HR,H2309R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-2.05,-3.1,1.05,,G,A,1.03,-0.39,5.354,,73.79,,,,0.79352
3436,Q6P2Q9,H,P,2309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,386,44,ENSG00000174231,ENST00000572621,CCDS11010.1,PRPF8,0.99,probably_damaging,1,deleterious,0,4.33177,22.8,Q6P2Q9_H2309P,H,P,2309,HP,H2309P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-2.05,-3.496,1.446,,G,A,0.35,-0.39,1.824,,73.79,,,,0.780418
3485,Q9NZN9,C,R,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,8396,202,ENSG00000129221,ENST00000574506,,AIPL1,0.61,probably_damaging,0.979,deleterious,0,3.75346,19.06,Q9NZN9_C227R,C,R,227,CR,C227R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,,,,0.932506
3487,P49748,T,M,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,0,0,0,,,,,,257,57,ENSG00000072778,ENST00000356839,CCDS11090.1,ACADVL,0.4,probably_damaging,0.988,deleterious,0,4.45882,23.8,P49748_T260M,T,M,260,TM,T260M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.208,-4.628,3.42,,E,B,0.77,-0.57,3.056,,82.75,0.00136665,0,0.0466054,0.647572
3498,P14672,V,I,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,0.004,0.002,0.005,0.003,,0.01,,0.01,3599,423,ENSG00000181856,ENST00000317370,CCDS11097.1,SLC2A4,0.75,benign,0.01,tolerated,0.29,2.27735,13.57,P14672_V383I,V,I,383,VI,V383I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.588,-1.79,0.202,,,,,,23.525,23.525,86.64,0.00366561,0,0.125005,1.02091
3506,P04637,R,H,337,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,2889,1130,ENSG00000141510,ENST00000269305,CCDS11118.1,TP53,0.86,probably_damaging,0.973,tolerated,0.06,2.56521,14.54,P04637_R337H,R,H,337,RH,R337H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.478,-2.561,1.083,,,,,,15.585,15.585,78.12,0.0062725,0,0.213905,0.936767
3538,Q2NKJ3,R,X,1195,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.07,,,,,,,,,1155,269,ENSG00000178971,ENST00000315684,CCDS42259.1,CTC1,0.98,,,,,5.53074,35,Q2NKJ3_R1195X,R,X,1195,RX,R1195X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00687667,0,0.234509,0.924423
3565,O14836,S,X,98,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.05,,,,,,,,,23327,8244,ENSG00000240505,ENST00000582931,,TNFRSF13B,0.89,,,,,2.26571,13.53,O14836_S98X,S,X,98,SX,S98X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
3575,Q9UKN7,K,X,2601,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.03,,,,,,,,,43153,27944,ENSG00000091536,ENST00000205890,CCDS42271.1,MYO15A,0.74,,,,,17.7726,51,Q9UKN7_K2601X,K,X,2601,KX,K2601X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
3783,P05106,G,D,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,32488,5103,ENSG00000259207,ENST00000435993,,ITGB3,0.27,probably_damaging,1,deleterious,0,5.09575,31,P05106_G200D,G,D,200,GD,G200D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00152031,0,0.0518457,0.902469
3961,Q14781,P,L,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,5604,4248,ENSG00000173894,ENST00000310942,CCDS32757.1,CBX2,0.18,benign,0.056,deleterious,0.01,1.24687,10.06,Q14781_P98L,P,L,98,PL,P98L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.582,-3.304,1.722,,,,,,4.544,,85.9,0.00159721,0,0.0544682,0.9562
4126,Q6UXH8,G,R,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,42122,2909,ENSG00000183287,ENST00000398179,,CCBE1,0.41,probably_damaging,0.999,deleterious,0,4.77421,26.8,Q6UXH8_G56R,G,R,56,GR,G56R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00151778,0,0.0517595,0.897226
4175,Q15831,Y,X,246,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.08,,,,,,,,,15417,7220,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.57,,,,,13.2056,47,Q15831_Y246X,Y,X,246,YX,Y246X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00205282,0,0.0700053,0.953488
4176,Q15831,Y,X,253,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.12,,,,,,,,,15438,7199,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.58,,,,,13.0831,47,Q15831_Y253X,Y,X,253,YX,Y253X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00143414,0,0.0489071,0.8948
4208,P06213,Q,X,699,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.07,,,,,,,,,141139,40607,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.51,,,,,6.64982,38,P06213_Q699X,Q,X,699,QX,Q699X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000663552,0,0.0226285,0.98231
4220,P06213,R,P,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.12,,,,,,,,,26342,155404,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.08,possibly_damaging,0.484,tolerated,0.07,1.92316,12.39,P06213_R113P,R,P,113,RP,R113P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.819,-3.763,1.944,0.62,S,b,0.68,0.17,1.741,,66.71,0.000362542,0,0.0123634,0.853061
4242,P50570,K,E,562,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,101913,11912,ENSG00000079805,ENST00000359692,CCDS45968.1,DNM2,0.65,possibly_damaging,0.698,deleterious,0,4.3033,22.5,P50570_K562E,K,E,562,KE,K562E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.416,-2.672,1.256,0.31,.,A,1.3,0,,,,4.19e-05,0,0.00142923,0.863479
4249,P01130,C,F,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,0,0,0,,,,,,296,864,ENSG00000130164,ENST00000558013,,LDLR,0.3,probably_damaging,1,deleterious,0,3.85059,19.56,P01130_C261F,C,F,261,CF,C261F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.111,-3.923,2.812,0.181,S,b,0.12,0,,,,0.000171601,0,0.00585196,0.662298
4264,O00754,H,L,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,928,2448,ENSG00000104774,ENST00000221363,CCDS54224.1,MAN2B1,0.07,probably_damaging,1,deleterious,0,5.26642,33,O00754_H70L,H,L,70,HL,H70L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.124,-3.439,2.315,0.012,B,B,0.72,-0.8,,,,0.000475158,0,0.0162039,0.601404
4433,P02655,W,R,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,2801,771,ENSG00000234906,ENST00000252490,CCDS12650.1,APOC2,0.48,probably_damaging,0.999,deleterious,0,3.48416,17.82,P02655_W48R,W,R,48,WR,W48R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.012,-4.093,3.081,,,,,,0.775,,31.68,0.0106036,0,0.361606,0.745772
4434,P02655,E,K,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,0.002,0.007,0,0.002,,0.003,0.01,,2837,735,ENSG00000234906,ENST00000252490,CCDS12650.1,APOC2,0.59,benign,0.004,tolerated,0.4,0.888952,8.61,P02655_E60K,E,K,60,EK,E60K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.905,-2.362,0.457,,,,,,19.477,19.477,87.13,0.0266677,0,0.909424,0.981679
4467,P18858,E,K,498,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,,,,,,,,,37293,17561,ENSG00000105486,ENST00000536218,,LIG1,0.59,probably_damaging,0.999,deleterious,0,5.47636,35,P18858_E498K,E,K,498,EK,E498K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.415,-2.088,0.673,0.615,H,A,1.3,-0.67,20.049,20.049,72.36,0.00248482,0,0.0847376,0.899734
4468,P19526,Y,X,316,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.04,,,,,,,,,5057,2323,ENSG00000174951,ENST00000310160,CCDS12733.1,FUT1,0.87,,,,,11.9077,45,P19526_Y316X,Y,X,316,YX,Y316X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00461314,0,0.157318,0.928988
4503,P05129,S,G,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,14441,444,ENSG00000126583,ENST00000542049,,PRKCG,0.45,probably_damaging,0.96,deleterious,0,4.56897,24.8,P05129_S248G,S,G,248,SG,S248G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,,,,,,,,,,,,,,,0.951769
4512,P19429,R,H,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,5841,122,ENSG00000129991,ENST00000344887,CCDS42628.1,TNNI3,0.91,probably_damaging,0.983,deleterious,0,4.86293,27.8,P19429_R192H,R,H,192,RH,R192H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.0243395,0.0555556,0.830027,0.783509
4573,Q9HC10,L,P,1011,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,2590,18249,ENSG00000115155,ENST00000403946,,OTOF,0.51,probably_damaging,1,deleterious,0,4.5215,24.3,Q9HC10_L1011P,L,P,1011,LP,L1011P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.989,-4.261,3.272,,,,,,1.442,,84.48,,,,0.814818
4715,P15313,L,P,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,342,1854,ENSG00000116039,ENST00000234396,CCDS1912.1,ATP6V1B1,0.16,probably_damaging,1,deleterious,0,4.30856,22.6,P15313_L81P,L,P,81,LP,L81P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,0.029,E,a,1.07,0.12,,,,0.0011669,0.00231482,0.0397937,0.661427
4945,P02461,G,D,1050,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,32027,6347,ENSG00000168542,ENST00000304636,CCDS2297.1,COL3A1,0.72,probably_damaging,0.996,deleterious,0,5.36918,34,P02461_G1050D,G,D,1050,GD,G1050D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.927,-3.37,2.443,,,,,0,0.221,,5.93,0.000203176,0,0.00692872,0.666722
4946,P02461,G,V,1050,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,32027,6347,ENSG00000168542,ENST00000304636,CCDS2297.1,COL3A1,0.72,probably_damaging,0.997,deleterious,0.01,5.06677,31,P02461_G1050V,G,V,1050,GV,G1050V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.927,-3.472,2.545,,,,,0,0.424,,5.93,0.000203176,0,0.00692872,0.666078
5027,Q8N490,A,P,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,0,0,0,,,,,,30,1502,ENSG00000127838,ENST00000248451,CCDS42816.1,PNKD,0.23,probably_damaging,0.994,deleterious,0,3.14333,16.51,Q8N490_A33P,A,P,33,AP,A33P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.643,-3.554,1.911,,,,,,1.411,,73.25,0.000286366,0,0.00976566,0.958097
5071,P17661,T,I,442,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,179,486,ENSG00000175084,ENST00000373960,CCDS33383.1,DES,0.94,possibly_damaging,0.494,tolerated,0.06,4.35815,23,P17661_T442I,T,I,442,TI,T442I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.605,-3.477,1.872,,,,,,2.094,,69.57,0.0180621,0,0.615954,0.898614
5108,Q07001,F,L,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,2110,613,ENSG00000135902,ENST00000258385,CCDS2494.1,CHRND,0.18,possibly_damaging,0.67,deleterious,0.01,4.80728,27.2,Q07001_F95L,F,L,95,FL,F95L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.477,-2.89,1.413,,,,,,4.502,,65.76,0.00216921,0,0.0739745,0.946052
5297,P78504,R,C,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,,,,,,,,,3895,20853,ENSG00000101384,ENST00000423891,,JAG1,0.02,probably_damaging,1,deleterious,0,4.63775,25.4,P78504_R25C,R,C,25,RC,R25C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.746,-4.768,3.022,,,,,,0.762,,68.56,3.39e-05,0,0.00115763,0.819772
5395,Q9UJQ4,Q,X,652,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.11,,,,,,,,,11880,6264,ENSG00000101115,ENST00000217086,CCDS13438.1,SALL4,0.62,,,,,8.14675,40,Q9UJQ4_Q652X,Q,X,652,QX,Q652X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000197535,0,0.00673637,0.98231
5576,O43272,L,M,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,0.005,0.002,0.006,,,,,,815,17,ENSG00000100033,ENST00000450579,,PRODH,0.96,benign,0.009,tolerated,0.99,-0.776637,0.74,O43272_L130M,L,M,130,LM,L130M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,-1.732,-3.8,2.068,,,,,,3.17,,85.83,0.00183223,0,0.0624829,0.911054
5629,Q8IU80,E,K,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,,,,,,,,,5080,2369,ENSG00000187045,ENST00000406725,,TMPRSS6,0.13,probably_damaging,0.999,tolerated,0.11,4.48455,24,Q8IU80_E105K,E,K,105,EK,E105K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
5649,O60733,A,T,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,161,1,ENSG00000184381,ENST00000335539,CCDS33645.1,PLA2G6,0.11,probably_damaging,0.931,deleterious,0.04,3.74489,19.01,O60733_A80T,A,T,80,AT,A80T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,,,,,,,,,0.000412892,0,0.0140805,0.90655
5658,P17050,R,Q,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,0.001,0.002,,,,6208,1237,ENSG00000198951,ENST00000396398,CCDS14030.1,NAGA,0.8,probably_damaging,0.979,deleterious,0,4.27201,22.3,P17050_R329Q,R,Q,329,RQ,R329Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.302,-3.32,2.018,,E,B,0.56,-0.02,3.408,,63.99,0.00421502,0,0.143741,0.715508
5694,Q15049,P,S,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,4869,9852,ENSG00000100427,ENST00000311597,CCDS14083.1,MLC1,0.24,probably_damaging,0.999,deleterious,0,4.36221,23,Q15049_P92S,P,S,92,PS,P92S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.962,-3.365,2.403,,,,,,1.732,,70.56,0.00288177,0,0.0982743,0.942742
5753,Q8NBK3,C,Y,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,49164,55973,ENSG00000144455,ENST00000383843,CCDS54548.1,SUMF1,0.55,probably_damaging,0.999,deleterious,0,3.54003,18.06,Q8NBK3_C193Y,C,Y,193,CY,C193Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.000735635,0,0.0250867,0.968699
5759,P56539,D,E,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,,,,,,,,,94,12797,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.19,probably_damaging,0.933,deleterious,0,3.90697,19.87,P56539_D28E,D,E,28,DE,D28E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-0.856,-3.118,2.262,,,,,,2.622,,92.05,0.00484201,0.0162602,0.165122,0.870441
5887,P16278,R,H,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,0,0,0,,,,,,103,3694,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.04,probably_damaging,1,deleterious,0,4.53251,24.4,P16278_R29H,R,H,29,RH,R29H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00178317,0.00154321,0.0608097,0.972867
5917,Q14524,D,H,1541,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,,,,,,,,,241,1328,ENSG00000183873,ENST00000449557,,SCN5A,0.79,probably_damaging,0.999,deleterious,0,4.20792,21.8,Q14524_D1541H,D,H,1541,DH,D1541H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,,,,,,,,,,,,,,,0.952213
5918,Q14524,D,N,1541,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,,,,,,,,,241,1328,ENSG00000183873,ENST00000449557,,SCN5A,0.79,probably_damaging,0.992,deleterious,0,4.86599,27.8,Q14524_D1541N,D,N,1541,DN,D1541N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
5933,Q96DW6,R,X,117,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.05,0,0,0,,,,,,8124,108,ENSG00000144659,ENST00000273158,CCDS2685.1,SLC25A38,0.38,,,,,7.02163,38,Q96DW6_R117X,R,X,117,RX,R117X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00594756,0,0.202824,0.924381
6012,O75369,W,R,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,68795,93580,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.06,probably_damaging,1,deleterious,0,4.44949,23.7,O75369_W148R,W,R,148,WR,W148R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.301,-3.893,2.592,,H,A,1.67,-0.07,,,,3.47e-05,0,0.00118386,0.555971
6036,O75369,A,S,1643,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.08,,,,,,,,,6269,32428,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.63,probably_damaging,0.999,deleterious,0,5.6684,36,O75369_A1643S,A,S,1643,AS,A1643S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.088,-2.713,1.625,,,,,,,,,0.000160331,0,0.00546761,0.907966
6186,P08100,A,E,292,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,,,,,,,,,4071,2459,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.84,possibly_damaging,0.6,deleterious,0,4.22022,21.9,P08100_A292E,A,E,292,AE,A292E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.315,-3.17,1.855,0.058,H,A,1.04,-0.82,4.791,,92.82,0.00187522,0,0.0639489,0.712722
6230,Q969F9,R,W,397,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,20933,3486,ENSG00000163755,ENST00000296051,CCDS3140.1,HPS3,0.4,probably_damaging,0.996,deleterious,0,4.25217,22.2,Q969F9_R397W,R,W,397,RW,R397W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,0.000391487,0,0.0133505,0.802714
6235,P58418,Y,X,63,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.07,,,,,,,,,159,31105,ENSG00000163646,ENST00000327047,CCDS3153.1,CLRN1,0.27,,,,,7.25255,38,P58418_Y63X,Y,X,63,YX,Y63X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00371298,0,0.12662,0.945391
6237,P58418,C,G,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,0,0,0,,,,,,88,31176,ENSG00000163646,ENST00000327047,CCDS3153.1,CLRN1,0.17,probably_damaging,0.994,deleterious,0.01,4.26649,22.3,P58418_C40G,C,G,40,CG,C40G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.293,-3.36,2.067,,,,,,,,,0.00325556,0,0.111021,0.806204
6357,Q13144,E,K,487,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,60,356,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.68,benign,0.186,tolerated,0.13,4.0226,20.6,Q13144_E487K,E,K,487,EK,E487K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.348,-3.018,1.67,,,,,,3.681,,80.72,0.00147729,0,0.0503787,0.955437
6358,Q13144,Y,C,495,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,35,331,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.69,probably_damaging,0.966,deleterious,0,4.10287,21.1,Q13144_Y495C,Y,C,495,YC,Y495C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.338,-4.762,3.424,,,,,,0.821,,93.62,0.000818419,0,0.0279098,0.827047
6490,O95436,Q,X,76,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.04,,,,,,,,,6349,3414,ENSG00000157765,ENST00000507530,,SLC34A2,0.47,,,,,2.06557,12.86,O95436_Q76X,Q,X,76,QX,Q76X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6674,Q6ZWL3,Q,X,450,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.08,,,,,,,,,236,1587,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.86,,,,,6.32242,37,Q6ZWL3_Q450X,Q,X,450,QX,Q450X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00434517,0,0.148179,0.942769
6700,O14746,R,W,979,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.07,,,,,,,,,22502,6781,ENSG00000164362,ENST00000310581,CCDS3861.2,TERT,0.86,probably_damaging,0.988,deleterious,0,3.02162,16.08,O14746_R979W,R,W,979,RW,R979W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.652,-5.253,3.601,,,,,,0.467,,70.32,0.00237205,0,0.0808919,0.923863
6768,P10643,R,S,521,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,0.003,0,0.004,0.001,,0.003,,0.003,50268,23420,ENSG00000112936,ENST00000313164,CCDS47201.1,C7,0.62,probably_damaging,0.998,deleterious,0,3.35813,17.31,P10643_R521S,R,S,521,RS,R521S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.234,-3.33,2.096,,,,,,1.7,,69.28,0.000615395,0,0.0209862,0.867601
7010,Q96L73,C,Y,2099,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,158869,1790,ENSG00000165671,ENST00000361032,,NSD1,0.81,probably_damaging,1,deleterious,0,4.12847,21.3,Q96L73_C2099Y,C,Y,2099,CY,C2099Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,,,,0.933113
7087,Q8N0V5,A,T,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,382,307,ENSG00000111846,ENST00000495262,CCDS34338.1,GCNT2,0.42,possibly_damaging,0.846,deleterious,0.01,4.31439,22.6,Q8N0V5_A169T,A,T,169,AT,A169T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-0.919,-3.071,2.152,,,,,,,,,0.000692814,0,0.0236264,0.863112
7398,P10071,P,S,707,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.01,0,0,0,,,,,,184547,3826,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.45,probably_damaging,0.996,deleterious,0,4.58569,24.9,P10071_P707S,P,S,707,PS,P707S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.655,-2.601,0.946,,,,,,10.008,10.008,45.51,0.00050855,0,0.0173426,0.965124
7500,P08123,G,A,379,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.01,,,,,,,,,15905,20767,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.28,,,deleterious,0,4.3325,22.8,P08123_G379A,G,A,379,GA,G379A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.861,-2.63,1.769,,,,,0,,,,0.000201729,0,0.00687937,0.822357
7508,P08123,G,D,805,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,496,152,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.59,probably_damaging,0.998,deleterious,0,5.15156,32,P08123_G805D,G,D,805,GD,G805D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,0,,,,0.000159159,0,0.00542766,0.688253
7659,P13569,S,X,1425,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.05,,,,,,,,,186934,43,ENSG00000001626,ENST00000426809,,CFTR,0.99,,,,,6.56101,37,P13569_S1425X,S,X,1425,SX,S1425X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00484258,0,0.165142,0.938411
7663,P41159,R,W,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,13288,3057,ENSG00000174697,ENST00000308868,CCDS5800.1,LEP,0.63,probably_damaging,0.996,deleterious,0,3.22049,16.79,P41159_R105W,R,W,105,RW,R105W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.219,-5.172,3.953,,,,,,0.366,,55.09,,,,0.768753
7672,P03999,G,R,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.12,0,0,0,0.001,0.002,,,0.001,235,3065,ENSG00000128617,ENST00000249389,CCDS5806.1,OPN1SW,0.23,probably_damaging,0.909,deleterious,0,2.76439,15.2,P03999_G79R,G,R,79,GR,G79R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.635,-3.795,2.16,,,,,,2.708,,85.63,0.00373893,0,0.127505,0.865837
7700,P35523,T,M,268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,0,0,0,,,,,,2968,6454,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.27,probably_damaging,0.98,deleterious,0,4.55766,24.7,P35523_T268M,T,M,268,TM,T268M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.149,-4.257,3.108,,,,,,,,,0.00081624,0,0.0278355,0.8165
7809,O43593,Q,X,1176,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.04,,,,,,,,,2702,675,ENSG00000168453,ENST00000381418,CCDS6022.1,HR,0.99,,,,,19.6054,52,O43593_Q1176X,Q,X,1176,QX,Q1176X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0104717,0,0.357107,0.921549
7947,Q7Z7G8,Q,X,3630,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.05,,,,,,,,,7,16890,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.9,,,,,22.0622,54,Q7Z7G8_Q3630X,Q,X,3630,QX,Q3630X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8049,P07902,L,P,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,73,23,ENSG00000213930,ENST00000450095,,GALT,0.32,benign,0.256,deleterious,0.02,2.53641,14.44,P07902_L86P,L,P,86,LP,L86P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00241112,0,0.0822241,0.964854
8093,Q9UBQ7,R,C,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,0,0,0,,,,,,7704,7,ENSG00000137106,ENST00000318158,CCDS6609.1,GRHPR,0.92,probably_damaging,1,deleterious,0,3.58336,18.25,Q9UBQ7_R302C,R,C,302,RC,R302C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,0.009,H,A,1.66,-1.14,,,,0.0023347,0,0.0796181,0.473692
8165,Q13635,A,T,393,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.11,,,,,,,,,1418,819,ENSG00000185920,ENST00000331920,CCDS6714.1,PTCH1,0.27,benign,0.235,tolerated,0.21,4.3894,23.2,Q13635_A393T,A,T,393,AT,A393T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.337,-3.136,1.799,,,,,,1.216,,41.26,,,,0.834002
8199,P05062,R,X,60,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.08,0,0,0,,,,,,5855,4340,ENSG00000136872,ENST00000374855,CCDS6756.1,ALDOB,0.16,,,,,6.44405,37,P05062_R60X,R,X,60,RX,R60X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000481461,0,0.0164188,0.977351
8260,P17813,G,V,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.01,,,,,,,,,1815,696,ENSG00000106991,ENST00000545345,CCDS48029.1,ENG,0.63,probably_damaging,1,deleterious,0,3.02905,16.11,P17813_G413V,G,V,413,GV,G413V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.809,-3.571,2.762,,,,,,,,,0.000623252,0,0.0212542,0.794761
8291,P00966,G,R,390,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,0,0,0,,,,,,19689,1634,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.95,probably_damaging,1,deleterious,0,3.7947,19.27,P00966_G390R,G,R,390,GR,G390R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.008,-3.615,2.607,0.379,H,A,0.91,-0.63,,,,0.00529254,0,0.180486,0.636403
8358,P51690,G,R,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.11,,,,,,,,,14840,199,ENSG00000157399,ENST00000545496,,ARSE,0.44,benign,0.06,tolerated,0.35,0.408345,6.218,P51690_G270R,G,R,270,GR,G270R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00225905,0,0.0770382,0.954089
8372,P23352,W,X,258,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.08,,,,,,,,,146838,56475,ENSG00000011201,ENST00000262648,CCDS14130.1,KAL1,0.38,,,,,6.17987,37,P23352_W258X,W,X,258,WX,W258X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00122036,0,0.0416166,0.882349
8389,Q99217,E,X,191,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.04,,,,,,,,,5519,1822,ENSG00000125363,ENST00000380712,CCDS14145.1,AMELX,0.93,,,,,5.10979,32,Q99217_E191X,E,X,191,EX,E191X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8442,P52788,G,S,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,26267,10678,ENSG00000102172,ENST00000457085,,SMS,0.48,possibly_damaging,0.762,tolerated,0.08,3.84802,19.55,P52788_G148S,G,S,148,GS,G148S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,,,,0.954663
8897,O60828,Y,C,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,3428,338,ENSG00000102103,ENST00000247140,CCDS55412.1,PQBP1,0.38,probably_damaging,0.999,deleterious,0,4.02002,20.6,O60828_Y65C,Y,C,65,YC,Y65C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.282,-4.598,3.316,,,,,,,,,0.0036641,0,0.124954,0.744325
8983,P10275,L,R,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,142750,12298,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.45,probably_damaging,1,deleterious,0,4.23565,22,P10275_L176R,L,R,176,LR,L176R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.00091295,0,0.0311335,0.979832
8984,P10275,L,F,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,142764,12284,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.47,probably_damaging,0.999,deleterious,0,4.81084,27.2,P10275_L181F,L,F,181,LF,L181F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,0.0003669,0,0.012512,1.00574
9049,P08034,V,I,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.03,,,,,,,,,688,67,ENSG00000169562,ENST00000447581,,GJB1,0.75,probably_damaging,0.999,deleterious,0,1.52989,11.07,P08034_V63I,V,I,63,VI,V63I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.355,-2.651,1.296,0.025,H,A,0.04,-1.08,5.425,,84.45,0.00164389,0,0.0560599,0.800266
9054,P08034,W,R,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,898,144,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.47,probably_damaging,0.999,tolerated,0.34,2.22776,13.41,P08034_W133R,W,R,133,WR,W133R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.386,-3.998,2.612,0.826,H,A,1.67,0.96,1.062,,54.06,0.00213336,0,0.072752,0.708044
9056,P08034,L,R,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,,,,,,,,,968,214,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.55,probably_damaging,0.929,deleterious,0,3.43967,17.64,P08034_L156R,L,R,156,LR,L156R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.584,-3.998,2.414,,,,,,1.64,,75.62,0.00403635,0,0.137648,0.859937
9118,P49335,R,G,323,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.09,,,,,,,,,1030,477,ENSG00000196767,ENST00000373200,CCDS14450.1,POU3F4,0.89,probably_damaging,1,deleterious,0,3.14819,16.53,P49335_R323G,R,G,323,RG,R323G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.398,-3.094,1.696,0.436,H,A,0.91,-0.87,,,,0.00207658,0,0.0708156,0.73363
9171,P06280,Y,X,365,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.05,,,,,,,,,691,197,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.85,,,,,2.02483,12.73,P06280_Y365X,Y,X,365,YX,Y365X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00712807,0,0.243082,0.915587
9301,P29400,G,D,409,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.01,,,,,,,,,8626,36152,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.24,,,deleterious,0,3.96917,20.3,P29400_G409D,G,D,409,GD,G409D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,2.46e-05,0,0.000838847,0.812925
9305,P29400,G,E,429,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.01,,,,,,,,,8686,36092,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.25,,,deleterious,0,3.98401,20.4,P29400_G429E,G,E,429,GE,G429E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,2.43e-05,0,0.000829495,0.811426
9322,P29400,G,R,561,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0,,,,,,,,,14978,29800,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.33,,,deleterious,0,4.04016,20.7,P29400_G561R,G,R,561,GR,G561R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.000258434,0,0.00881311,0.78896
9324,P29400,G,D,573,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.01,,,,,,,,,15015,29763,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.34,,,deleterious,0,4.15612,21.5,P29400_G573D,G,D,573,GD,G573D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,,,,,,,,0.000230416,0,0.00785765,0.810788
9345,P29400,E,X,700,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0,,,,,,,,,19449,25329,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.41,,,,,10.2162,43,P29400_E700X,E,X,700,EX,E700X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,2.76e-05,0,0.000942588,0.98778
9375,P29400,G,D,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0,,,,,,,,,72,3808,ENSG00000188153,ENST00000505728,,COL4A5,0.14,,,deleterious,0,4.30224,22.5,P29400_G25D,G,D,25,GD,G25D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.000180302,0,0.00614867,0.97884
9413,P29400,G,D,1220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.04,,,,,,,,,228491,29169,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.72,,,deleterious,0,4.25746,22.2,P29400_G1220D,G,D,1220,GD,G1220D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.063,-3.239,2.176,,,,,,4.288,,87.54,1.18e-05,0,0.00040185,0.874909
9653,P22304,P,H,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,18,101,ENSG00000010404,ENST00000370443,,IDS,0.38,probably_damaging,1,deleterious,0,4.30507,22.6,P22304_P120H,P,H,120,PH,P120H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-0.966,-4.497,3.531,,,,,,,,,0.0022856,0,0.0779435,0.780623
9658,P22304,S,P,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.55,0.05,,,,,,,,,4,745,ENSG00000010404,ENST00000370443,,IDS,0.2,probably_damaging,0.98,deleterious,0,3.92979,20,P22304_S61P,S,P,61,SP,S61P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.363,-3.495,2.132,,,,,,1.516,,57.09,0.00299588,0,0.102166,0.89251
9758,P31150,R,X,70,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.55,0.07,,,,,,,,,813,234,ENSG00000203879,ENST00000447750,CCDS35452.1,GDI1,0.16,,,,,7.34672,39,P31150_R70X,R,X,70,RX,R70X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00208262,0,0.0710217,0.959275
9,Q9UBX5,D,Y,369,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.09,,,,,,,,,461,7355,ENSG00000140092,ENST00000556154,,FBLN5,0.81,probably_damaging,0.997,deleterious,0,5.03866,29.8,Q9UBX5_D369Y,D,Y,369,DY,D369Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,,,,0.931909
46,Q9H251,G,A,7,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.01,0.121,0.035,0.164,0.17,0.28,0.13,0.01,0.2,19,32380,ENSG00000107736,ENST00000442677,,CDH23,0.01,probably_damaging,0.981,deleterious,0,4.22276,21.9,Q9H251_G7A,G,A,7,GA,G7A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,,,,,,,,,,,,,,,0.953551
68,Q96SN8,Q,H,949,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.03,0.005,0.015,0,0.004,,,0.02,,39665,2262,ENSG00000136861,ENST00000416449,,CDK5RAP2,0.74,possibly_damaging,0.493,tolerated,0.15,2.95687,15.86,Q96SN8_Q949H,Q,H,949,QH,Q949H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,,,,,,,,,,,,,,,0.959281
161,Q03518,I,V,393,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.03,0.196,0.253,0.165,0.2,0.17,0.17,0.3,0.18,855,5787,ENSG00000168394,ENST00000354258,CCDS4758.1,TAP1,0.49,benign,0.01,tolerated,0.68,-0.380336,2.213,Q03518_I393V,I,V,393,IV,I393V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-2.164,-2.223,0.059,,,,,,22.458,22.458,62.38,0.00223743,0,0.0884854,1.0211
163,Q02643,E,D,57,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0,0.083,0.141,0.054,0.07,0.004,0.03,0.18,0.06,428,9559,ENSG00000106128,ENST00000409904,,GHRHR,0.16,benign,0.01,tolerated,0.63,0.306778,5.662,Q02643_E57D,E,D,57,ED,E57D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,,,,,,,,,,,,0.0025633,0,0.101373,0.976907
168,P56539,A,E,46,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.07,,,,,,,,,508,1209,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.3,probably_damaging,1,deleterious,0,3.14357,16.51,P56539_A46E,A,E,46,AE,A46E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.05,-3.694,2.644,,,,,,2.462,,38.41,0.00895853,0,0.354291,0.745478
171,P54278,P,S,470,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.07,0.374,0.282,0.421,0.39,0.39,0.42,0.3,0.44,16650,4482,ENSG00000122512,ENST00000265849,CCDS5343.1,PMS2,0.55,benign,0.008,tolerated,0.83,-0.482327,1.779,P54278_P470S,P,S,470,PS,P470S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.843,-2.173,0.33,,,,,,18.676,18.676,84.92,0.000977656,0,0.0386642,1.01766
194,P46019,E,Q,38,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.07,0.024,0.004,0.036,0.02,,0.02,,0.03,30220,62079,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.03,benign,0.006,tolerated,0.23,2.99154,15.98,P46019_E38Q,E,Q,38,EQ,E38Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-1.982,-2.761,0.779,,,,,,15.711,15.711,92.39,0.000623291,0,0.0246498,1.00841
200,P35670,K,R,832,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.05,0.552,0.484,0.586,0.49,0.4,0.52,0.45,0.58,11564,9281,ENSG00000123191,ENST00000418097,,ATP7B,0.59,benign,0.279,tolerated,0.17,3.41677,17.55,P35670_K832R,K,R,832,KR,K832R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.289,-2.407,1.118,0.345,E,B,1.14,-0.54,28.228,28.228,43.55,0.000392668,0,0.0155292,0.834313
255,P21817,N,D,4853,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.09,,,,,,,,,146730,7135,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.96,,,,,2.91952,15.73,P21817_N4853D,N,D,4853,ND,N4853D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,,,,,,,,,,,,,,,0.962527
294,P10071,G,R,465,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.04,0.004,0,0.006,0.001,,0.003,,0.001,128882,59491,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.29,benign,0.042,tolerated,0.1,3.60377,18.35,P10071_G465R,G,R,465,GR,G465R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.844,-3.306,1.462,,,,,,5.422,5.422,86.65,0.000422797,0,0.0167207,0.95845
342,P02461,A,T,698,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0.03,0.214,0.134,0.255,0.21,0.24,0.23,0.08,0.25,24981,13393,ENSG00000168542,ENST00000317840,,COL3A1,0.6,,,tolerated,0.33,2.66628,14.88,P02461_A698T,A,T,698,AT,A698T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.998,-2.356,0.358,,,,,,22.26,22.26,91.41,1.89e-05,0,0.000748252,1.02171
360,O95255,I,V,742,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.56,0,0.026,0.052,0.013,0.02,,0.01,0.06,0.01,41000,730,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.49,benign,0.001,tolerated,0.21,-0.173855,3.153,O95255_I742V,I,V,742,IV,I742V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-2.911,-2.401,-0.51,,,,,,25.114,25.114,92.75,0.000324058,0,0.0128158,1.03513
56,P42898,R,X,224,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,2995,955,ENSG00000177000,ENST00000376585,,MTHFR,0.32,,,,,14.0481,48,P42898_R224X,R,X,224,RX,R224X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00175455,0,0.0598337,0.939024
126,Q14376,R,W,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,166,268,ENSG00000117308,ENST00000418277,,GALE,0.77,probably_damaging,1,deleterious,0,3.62468,18.44,Q14376_R175W,R,W,175,RW,R175W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00432967,0,0.147651,0.952971
136,Q02161,L,P,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0.001,0,0.001,,,,,,12205,22190,ENSG00000187010,ENST00000423810,,RHD,0.26,probably_damaging,0.949,deleterious,0.02,2.12142,13.05,Q02161_L110P,L,P,110,LP,L110P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.55,-2.439,0.889,,,,,,27.643,27.643,58.27,0.00270605,0,0.0922818,0.943017
153,Q9NTQ9,G,D,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,1548,138,ENSG00000189433,ENST00000339480,CCDS383.1,GJB4,0.05,probably_damaging,0.999,deleterious,0.01,5.07797,31,Q9NTQ9_G12D,G,D,12,GD,G12D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.915,-3.318,2.403,0.448,S,b,0.46,1.58,2.063,,42.11,0.00168335,0,0.0574059,0.739055
164,O75712,I,V,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,2905,1182,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.52,benign,0.009,tolerated,0.39,1.39742,10.61,O75712_I141V,I,V,141,IV,I141V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.406,-2.05,0.644,,,,,,21.04,21.04,85.56,,,,0.985115
214,P40238,R,P,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,0,0,0,0.001,,,,0.001,785,10904,ENSG00000117400,ENST00000413998,,MPL,0.19,probably_damaging,0.999,tolerated,0.06,3.55975,18.15,P40238_R102P,R,P,102,RP,R102P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.184,-3.697,2.513,,,,,,,,,0.000727868,0,0.0248218,0.793638
215,P40238,Q,X,186,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,1586,10103,ENSG00000117400,ENST00000413998,,MPL,0.34,,,,,2.85562,15.51,P40238_Q186X,Q,X,186,QX,Q186X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00161323,0,0.0550146,0.904853
240,Q9Y4U1,R,X,132,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,0,0,0,,,,,,805,1817,ENSG00000132763,ENST00000401061,CCDS41324.1,MMACHC,0.47,,,,,6.93736,38,Q9Y4U1_R132X,R,X,132,RX,R132X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00519849,0,0.177279,0.933136
241,Q9Y4U1,R,Q,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0,0,0,,,,,,286,1298,ENSG00000132763,ENST00000401061,CCDS41324.1,MMACHC,0.57,probably_damaging,0.999,deleterious,0,5.74054,36,Q9Y4U1_R161Q,R,Q,161,RQ,R161Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.101,-3.305,2.204,0.073,E,A,0.56,-0.99,,,,0.00222758,0,0.0759652,0.558181
260,Q15392,E,K,23,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,862,23224,ENSG00000116133,ENST00000537443,,DHCR24,0.08,possibly_damaging,0.895,deleterious,0,6.12273,37,Q15392_E23K,E,K,23,EK,E23K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
341,O95076,L,V,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,5934,4685,ENSG00000156150,ENST00000369792,CCDS819.1,ALX3,0.49,probably_damaging,0.99,deleterious,0,3.27705,17,O95076_L168V,L,V,168,LV,L168V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.252,-1.921,0.669,,,,,,13.658,13.658,50.73,,,,0.930923
349,P01138,R,W,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,0,0,0,,,,,,3101,217,ENSG00000134259,ENST00000369512,CCDS882.1,NGF,0.92,probably_damaging,0.997,deleterious,0,2.77245,15.23,P01138_R221W,R,W,221,RW,R221W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.101,-5.178,4.077,0.419,E,B,1.67,0.15,,,,0.00602472,0,0.205455,0.652087
353,O14958,D,H,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,63503,4180,ENSG00000118729,ENST00000456138,,CASQ2,0.72,probably_damaging,0.999,deleterious,0,4.91042,28.3,O14958_D236H,D,H,236,DH,D236H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,,,,,,,,,,,,0.00297088,0,0.101313,0.964243
355,P26439,A,E,10,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,285,4158,ENSG00000203859,ENST00000543831,CCDS902.1,HSD3B2,0.03,probably_damaging,0.97,deleterious,0,3.50702,17.92,P26439_A10E,A,E,10,AE,A10E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.259,-3.343,2.084,,,,,,3.885,,77.96,0.00254962,0,0.0869473,0.885052
399,P48382,R,Q,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,224,72,ENSG00000143390,ENST00000392746,,RFX5,0.25,probably_damaging,0.999,deleterious,0,5.67016,36,P48382_R149Q,R,Q,149,RQ,R149Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.000670335,0,0.0228598,0.857498
423,P02545,E,G,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,309,2,ENSG00000160789,ENST00000392353,,LMNA,0.25,probably_damaging,0.978,deleterious,0,4.9923,29.3,P02545_E122G,E,G,122,EG,E122G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,,,,,,,,,,,,0.00154457,0,0.0526731,0.888427
424,P02545,H,Y,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,8,132,ENSG00000160789,ENST00000392353,,LMNA,0.29,benign,0.274,tolerated,0.06,3.15089,16.54,P02545_H141Y,H,Y,141,HY,H141Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.00160784,0,0.0548305,0.915637
433,P02545,G,D,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,529,334,ENSG00000160789,ENST00000392353,,LMNA,0.78,probably_damaging,0.997,deleterious,0,4.45656,23.8,P02545_G384D,G,D,384,GD,G384D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00116956,0,0.0398845,0.910982
466,P78508,P,H,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,344,1481,ENSG00000177807,ENST00000368089,CCDS1193.1,KCNJ10,0.51,possibly_damaging,0.852,deleterious,0,2.46397,14.2,P78508_P194H,P,H,194,PH,P194H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.881,-4.662,2.781,,,,,,0.824,,82.59,0.00295966,0,0.100931,0.858776
467,P78508,A,V,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,263,1562,ENSG00000177807,ENST00000368089,CCDS1193.1,KCNJ10,0.44,probably_damaging,0.974,tolerated,0.3,2.86245,15.54,P78508_A167V,A,V,167,AV,A167V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.374,-3.101,1.727,,,,,,3.013,,62.8,0.00174498,0,0.0595075,0.944741
474,P50993,G,R,301,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,32,9499,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.3,probably_damaging,1,deleterious,0,4.9587,28.9,P50993_G301R,G,R,301,GR,G301R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.008,-3.615,2.607,0.046,H,a,0.91,-0.4,,,,0.000216868,0,0.00739565,0.568922
475,P50993,T,A,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,995,8536,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.34,probably_damaging,0.962,deleterious,0,4.44051,23.6,P50993_T345A,T,A,345,TA,T345A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.391,-2.534,1.143,,H,a,0.22,-0.28,,,,0.000143116,0,0.00488056,0.792432
480,P50993,R,Q,689,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,7574,1957,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.68,probably_damaging,1,deleterious,0,4.98536,29.2,P50993_R689Q,R,Q,689,RQ,R689Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,0.141,S,l,0.56,-0.69,,,,0.000337212,0,0.0114996,0.693408
600,P01008,P,L,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,0,0,0,0.001,,,,0.001,78,2763,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.16,probably_damaging,0.998,deleterious,0,5.17704,32,P01008_P73L,P,L,73,PL,P73L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,0.376,.,b,1.07,1.95,,,,0.00122942,0,0.0419257,0.788586
602,P01008,I,N,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,180,2865,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.08,probably_damaging,0.97,deleterious,0,4.49777,24.1,P01008_I39N,I,N,39,IN,I39N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.345,-4.016,2.671,0.113,T,A,1.09,0.31,1.442,,87.5,0.000710645,0,0.0242344,0.706391
612,Q969G2,A,P,210,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,2826,39,ENSG00000121454,ENST00000263726,CCDS1338.1,LHX4,0.54,probably_damaging,0.983,deleterious,0,5.5308,35,Q969G2_A210P,A,P,210,AP,A210P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.307,-3.336,2.029,,,,,,,,,0.00269554,0.00555556,0.0919233,0.839394
686,P45379,F,I,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,18,2,ENSG00000118194,ENST00000367318,CCDS30969.1,TNNT2,0.38,probably_damaging,1,deleterious,0,5.31413,34,P45379_F110I,F,I,110,FI,F110I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,,,,,,,,,,,,0.00729234,0,0.248684,0.927972
689,Q13231,E,K,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0.003,0.001,0.005,0.001,,,0.002,0.003,3940,2118,ENSG00000133063,ENST00000535569,,CHIT1,0.18,benign,0.014,tolerated,0.68,1.07635,9.394,Q13231_E84K,E,K,84,EK,E84K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.000911441,0,0.031082,0.990526
692,P00797,R,X,49,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,4206,7298,ENSG00000143839,ENST00000272190,CCDS30981.1,REN,0.12,,,,,5.08662,31,P00797_R49X,R,X,49,RX,R49X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0034157,0,0.116482,0.951177
693,P00797,L,R,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,76,11428,ENSG00000143839,ENST00000272190,CCDS30981.1,REN,0.04,possibly_damaging,0.743,deleterious,0.01,3.30325,17.1,P00797_L16R,L,R,16,LR,L16R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.474,-3.786,2.312,,,,,,1.55,,49.01,0.00202215,0.0025641,0.0689596,0.844247
800,Q96P20,F,S,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,5580,1418,ENSG00000162711,ENST00000366496,CCDS44346.1,NLRP3,0.32,benign,0.377,tolerated,0.12,1.57017,11.21,Q96P20_F311S,F,S,311,FS,F311S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.535,-3.499,1.964,,,,,,0.652,,26.54,0.00112251,0,0.0382798,0.824572
801,Q96P20,A,V,354,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,5709,1289,ENSG00000162711,ENST00000366496,CCDS44346.1,NLRP3,0.36,probably_damaging,0.991,deleterious,0,4.42598,23.5,Q96P20_A354V,A,V,354,AV,A354V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-0.949,-2.934,1.985,,,,,,,,,0.000990688,0,0.0337845,0.781906
802,Q96P20,L,P,355,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,5712,1286,ENSG00000162711,ENST00000366496,CCDS44346.1,NLRP3,0.36,probably_damaging,0.966,deleterious,0.01,2.97141,15.91,Q96P20_L355P,L,P,355,LP,L355P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.599,-3.834,2.235,,,,,,0.771,,26.54,0.000737264,0,0.0251422,0.848098
825,Q08289,S,L,285,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,6307,380,ENSG00000165995,ENST00000377328,,CACNB2,0.7,probably_damaging,0.994,tolerated,0.28,2.93649,15.79,Q08289_S285L,S,L,285,SL,S285L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,,,,0.932753
845,P07949,E,E,768,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.56,0.08,,,,,,,,,41313,9061,ENSG00000165731,ENST00000340058,CCDS53525.1,RET,0.72,,,,,1.01549,9.148,P07949_E768E,E,E,768,EE,E768E,negativeCharge,negativeCharge,3.22,3.22,0,147,147,0,138.4,138.4,0,0,,,,,,,,,,,,0.000967558,0,0.0329957,0.935271
846,P07949,E,D,768,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,41313,9061,ENSG00000165731,ENST00000340058,CCDS53525.1,RET,0.72,possibly_damaging,0.767,deleterious,0.01,4.3128,22.6,P07949_E768D,E,D,768,ED,E768D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.075,-2.611,1.536,0.278,H,A,0.29,-0.25,,,,0.000967558,0,0.0329957,0.8639
847,P07949,V,I,778,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,41341,9033,ENSG00000165731,ENST00000340058,CCDS53525.1,RET,0.73,benign,0.003,deleterious,0.01,5.12755,32,P07949_V778I,V,I,778,VI,V778I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-2.671,-2.702,0.031,0.117,H,A,0.04,-0.01,10.62,,92.28,0.000715015,0,0.0243835,0.962223
866,P11226,G,E,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0.089,0.227,0.018,0.05,,0.02,0.2,0.01,4,3176,ENSG00000165471,ENST00000373968,CCDS7247.1,MBL2,0.23,probably_damaging,0.947,deleterious,0.01,3.01809,16.07,P11226_G57E,G,E,57,GE,G57E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.893,-2.302,1.409,,,,,,16.41,16.41,55.24,0.00206219,0,0.0703251,0.929964
907,Q9H251,Q,X,1297,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.11,,,,,,,,,5674,9886,ENSG00000107736,ENST00000224721,,CDH23,0.39,,,,,12.8161,46,Q9H251_Q1297X,Q,X,1297,QX,Q1297X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
908,Q9H251,D,N,1344,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,5533,9745,ENSG00000107736,ENST00000224721,,CDH23,0.4,probably_damaging,1,deleterious,0,5.42907,35,Q9H251_D1344N,D,N,1344,DN,D1344N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
910,Q9H251,R,Q,1749,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0,0,0,,,,,,382379,36581,ENSG00000107736,ENST00000224721,,CDH23,0.52,possibly_damaging,0.871,deleterious,0.03,5.21518,33,Q9H251_R1749Q,R,Q,1749,RQ,R1749Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
922,P07602,T,I,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,23188,11783,ENSG00000197746,ENST00000373120,,PSAP,0.39,possibly_damaging,0.871,deleterious,0,4.42163,23.5,P07602_T217I,T,I,217,TI,T217I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.426,-3.619,2.193,,,,,,2.481,,82.44,0.0021737,0,0.0741277,0.885136
923,P07602,N,H,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,23181,11790,ENSG00000197746,ENST00000373120,,PSAP,0.38,probably_damaging,0.999,deleterious,0,4.69262,26,P07602_N215H,N,H,215,NH,N215H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,-1.008,-3.861,2.853,,,,,,,,,0.00155271,0,0.0529506,0.729598
938,Q00266,I,M,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,561,1704,ENSG00000151224,ENST00000372213,CCDS7365.1,MAT1A,0.82,probably_damaging,0.97,deleterious,0,3.60588,18.36,Q00266_I322M,I,M,322,IM,I322M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.436,-3.765,2.329,0.556,B,B,0.07,-1.07,,,,0.0015478,0,0.052783,0.618791
1022,P54886,R,Q,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,13566,5951,ENSG00000059573,ENST00000371224,CCDS7443.1,ALDH18A1,0.11,probably_damaging,0.998,deleterious,0,5.31496,34,P54886_R84Q,R,Q,84,RQ,R84Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,,,,,,,,,0.000934216,0,0.0318587,0.885439
1031,Q96RR1,R,Q,303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,1092,767,ENSG00000107815,ENST00000311916,CCDS7506.1,C10orf2,0.44,possibly_damaging,0.881,deleterious,0.02,4.49916,24.1,Q96RR1_R303Q,R,Q,303,RQ,R303Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.539,-3.383,1.844,,,,,,3.075,,75.73,0.00229419,0,0.0782366,0.961628
1034,Q96RR1,A,A,429,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.56,0.04,,,,,,,,,1661,198,ENSG00000107815,ENST00000311916,CCDS7506.1,C10orf2,0.63,,,,,0.66192,7.547,Q96RR1_A429A,A,A,429,AA,A429A,Hydrophobic,Hydrophobic,6,6,0,89,89,0,88.6,88.6,0,0,,,,,,,,,,,,0.00178117,0,0.0607416,0.974802
1035,Q96RR1,T,I,457,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,1744,115,ENSG00000107815,ENST00000311916,CCDS7506.1,C10orf2,0.67,probably_damaging,1,deleterious,0.05,3.97412,20.3,Q96RR1_T457I,T,I,457,TI,T457I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.067,-3.377,2.31,,,,,,,,,0.00216527,0,0.0738403,0.804322
1059,P05093,R,W,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,0,0,0,,,,,,339,936,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.19,probably_damaging,1,deleterious,0,2.97539,15.92,P05093_R96W,R,W,96,RW,R96W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.064,-5.197,4.133,,,,,,,,,0.000451342,0,0.0153917,0.788028
1090,P21802,W,C,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,11267,2714,ENSG00000066468,ENST00000336553,,FGFR2,0.3,probably_damaging,0.991,deleterious,0,4.6244,25.3,P21802_W201C,W,C,201,WC,W201C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,0.00084686,0,0.0288797,0.946606
1095,P21802,S,W,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,11152,2829,ENSG00000066468,ENST00000336553,,FGFR2,0.24,probably_damaging,0.997,deleterious,0.02,4.41997,23.5,P21802_S163W,S,W,163,SW,S163W,Polar,Hydrophobic,5.68,5.89,0.21,105,204,99,89,227.8,138.8,177,,,,,,,,,,,,0.000494525,0,0.0168643,0.967906
1151,Q96AD5,P,L,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,478,236,ENSG00000177666,ENST00000336615,CCDS7718.1,PNPLA2,0.39,probably_damaging,0.999,deleterious,0,5.05474,30,Q96AD5_P195L,P,L,195,PL,P195L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.000352466,0,0.0120198,0.81599
1246,P17405,R,L,497,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0,0,0,,,,,,686,76,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.79,probably_damaging,0.998,deleterious,0,3.84146,19.51,P17405_R497L,R,L,497,RL,R497L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00353795,0,0.120651,0.954803
1248,O14773,R,H,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,218,7,ENSG00000166340,ENST00000533371,,TPP1,0.64,probably_damaging,0.999,deleterious,0,5.23487,33,O14773_R204H,R,H,204,RH,R204H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00229947,0,0.0784167,0.985208
1386,Q96A29,R,C,68,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,1091,97,ENSG00000181830,ENST00000530670,,SLC35C1,0.33,probably_damaging,0.999,deleterious,0,5.02482,29.7,Q96A29_R68C,R,C,68,RC,R68C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00567416,0,0.193501,0.89629
1388,Q9UQF2,S,N,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,1609,8307,ENSG00000121653,ENST00000395629,,MAPK8IP1,0.07,benign,0.254,deleterious,0,4.13471,21.3,Q9UQF2_S49N,S,N,49,SN,S49N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,,,,0.957829
1402,Q92466,R,H,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,19930,4345,ENSG00000134574,ENST00000378603,,DDB2,0.58,probably_damaging,0.999,deleterious,0,5.12434,32,Q92466_R209H,R,H,209,RH,R209H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
1476,O00255,C,X,359,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,235,485,ENSG00000133895,ENST00000443283,CCDS8083.1,MEN1,0.58,,,,,5.66962,36,O00255_C359X,C,X,359,CX,C359X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00123569,0,0.0421396,0.903046
1508,P11498,R,C,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,0,0,0,,,,,,36078,452,ENSG00000173599,ENST00000524491,,PC,0.04,probably_damaging,0.986,deleterious,0,4.69053,26,P11498_R22C,R,C,22,RC,R22C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000628722,0,0.0214407,0.954625
1579,P38935,Q,X,41,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.08,,,,,,,,,2177,2090,ENSG00000132740,ENST00000255078,CCDS8187.1,IGHMBP2,0.04,,,,,5.57395,35,P38935_Q41X,Q,X,41,QX,Q41X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1599,Q9UBM7,R,C,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.13,0,0,0,,,,,,27,237,ENSG00000172893,ENST00000525137,,DHCR7,0.13,probably_damaging,0.999,deleterious,0.01,4.63563,25.4,Q9UBM7_R31C,R,C,31,RC,R31C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.00236706,0.0045045,0.0807217,0.75553
1605,Q9UBM7,L,P,68,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,3968,70,ENSG00000172893,ENST00000525346,,DHCR7,0.63,probably_damaging,0.983,deleterious,0,3.90273,19.84,Q9UBM7_L68P,L,P,68,LP,L68P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.443,-3.909,2.466,,,,,,1.219,,71.37,0.00282313,0.002457,0.0962747,0.928879
1622,Q9Y6H6,R,H,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,0.001,0.002,,0.002,0.001,1920,2,ENSG00000175538,ENST00000310128,CCDS8232.1,KCNE3,0.96,probably_damaging,0.998,deleterious,0,4.79785,27.1,Q9Y6H6_R99H,R,H,99,RH,R99H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.572,-4.22,2.648,,,,,,0.515,,55.34,0.0600657,0,2.04836,0.797876
1625,Q13402,R,X,150,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,27767,28927,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.13,,,,,6.88832,38,Q13402_R150X,R,X,150,RX,R150X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1627,Q13402,R,C,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.13,,,,,,,,,28601,28093,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.18,probably_damaging,1,deleterious,0,5.06267,31,Q13402_R212C,R,C,212,RC,R212C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-0.741,-5.186,4.445,,,,,,,,,,,,0.706917
1632,Q13402,N,I,458,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,33847,22847,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.39,probably_damaging,0.977,deleterious,0,4.17258,21.6,Q13402_N458I,N,I,458,NI,N458I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.02,-4.052,3.032,,,,,,5.975,,81.44,,,,0.821424
1641,Q13402,G,X,1084,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.03,,,,,,,,,4184,7585,ENSG00000137474,ENST00000458169,,MYO7A,0.8,,,,,9.62929,42,Q13402_G1084X,G,X,1084,GX,G1084X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,,,,0.933822
1676,P14679,P,S,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,121,22598,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.04,probably_damaging,0.999,deleterious,0,4.64827,25.5,P14679_P21S,P,S,21,PS,P21S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.772,-2.736,1.964,,,,,,7.317,7.317,33.27,0.000857087,0,0.0292284,0.884101
1677,P14679,D,G,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,185,22534,ENSG00000077498,ENST00000263321,CCDS8284.1,TYR,0.08,probably_damaging,0.998,tolerated,0.11,2.97839,15.93,P14679_D42G,D,G,42,DG,D42G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.735,-2.763,1.028,,,,,,19.373,19.373,42.91,0.00140847,0,0.0480318,0.911683
1797,P04234,C,X,20,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.01,,,,,,,,,1036,808,ENSG00000167286,ENST00000529594,,CD3D,0.2,,,,,4.22748,22,P04234_C20X,C,X,20,CX,C20X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
1835,Q9BY79,I,T,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,993,262,ENSG00000235718,ENST00000360167,,MFRP,0.39,probably_damaging,0.956,deleterious,0,2.59781,14.65,Q9BY79_I182T,I,T,182,IT,I182T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.502,-3.291,1.789,,,,,,4.13,,82.73,0.00166177,0,0.0566697,0.963006
1838,O75443,C,S,1057,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,34982,53159,ENSG00000109927,ENST00000264037,CCDS8434.1,TECTA,0.49,probably_damaging,0.991,deleterious,0,4.53211,24.4,O75443_C1057S,C,S,1057,CS,C1057S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.293,-3.163,1.87,,,,,,,,,0.000190439,0,0.00649436,0.894367
1913,P04275,F,C,1514,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,3050,652,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.54,probably_damaging,1,deleterious,0,3.76374,19.11,P04275_F1514C,F,C,1514,FC,F1514C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-0.872,-4.839,3.967,,H,A,0.12,-0.38,,,,4.5e-05,0,0.00153607,0.588471
1952,P50542,N,K,547,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,431,557,ENSG00000139197,ENST00000412720,,PEX5,0.83,probably_damaging,1,deleterious,0,3.72812,18.93,P50542_N547K,N,K,547,NK,N547K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,,,,0.947543
2015,P11473,G,D,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,3959,21316,ENSG00000111424,ENST00000550314,,VDR,0.43,probably_damaging,0.999,deleterious,0,5.08727,31,P11473_G46D,G,D,46,GD,G46D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.000628585,0,0.021436,0.808386
2048,P02458,C,X,64,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.08,,,,,,,,,4303,322,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.04,,,,,4.84513,27.6,P02458_C64X,C,X,64,CX,C64X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000140823,0,0.00480235,0.981692
2061,Q71U36,L,P,362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,1689,166,ENSG00000167552,ENST00000550767,,TUBA1A,0.87,benign,0.388,,,1.49812,10.96,Q71U36_L362P,L,P,362,LP,L362P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00246329,0,0.0840034,0.964854
2073,P41181,C,W,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,1479,8,ENSG00000167580,ENST00000550862,,AQP2,0.91,probably_damaging,0.997,deleterious,0,2.9442,15.81,P41181_C223W,C,W,223,CW,C223W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,0.00629533,0,0.214684,0.911362
2075,P41181,A,T,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,1454,33,ENSG00000167580,ENST00000550862,,AQP2,0.95,benign,0.227,deleterious,0.01,4.28267,22.4,P41181_A232T,A,T,232,AT,A232T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00361111,0,0.123146,0.968401
2100,P02538,L,R,469,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,4912,1172,ENSG00000205420,ENST00000330722,CCDS41786.1,KRT6A,0.83,probably_damaging,1,deleterious,0,4.2888,22.4,P02538_L469R,L,R,469,LR,L469R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-0.892,-3.938,3.046,,,,,,1.207,,48.58,0.00149694,0,0.0510487,0.833062
2102,P13647,E,X,185,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.07,,,,,,,,,451,44,ENSG00000186081,ENST00000548409,,KRT5,0.92,,,,,5.3702,34,P13647_E185X,E,X,185,EX,E185X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000619634,0,0.0211308,0.980139
2103,P13647,E,K,185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,451,44,ENSG00000186081,ENST00000548409,,KRT5,0.92,benign,0.335,deleterious,0.01,4.98768,29.2,P13647_E185K,E,K,185,EK,E185K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.000619634,0,0.0211308,0.990526
2104,P13647,E,G,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,456,39,ENSG00000186081,ENST00000548409,,KRT5,0.91,probably_damaging,0.992,deleterious,0,4.9577,28.9,P13647_E183G,E,G,183,EG,E183G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,,,,,,,,,,,,0.000513255,0,0.0175031,0.963814
2109,P13647,M,T,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,187,257,ENSG00000186081,ENST00000548409,,KRT5,0.17,probably_damaging,0.973,deleterious,0,4.67465,25.8,P13647_M35T,M,T,35,MT,M35T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.000375932,0,0.0128201,0.993045
2140,Q16671,R,Q,406,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,4791,377,ENSG00000135409,ENST00000550311,CCDS55829.1,AMHR2,0.85,benign,0.022,deleterious,0.04,2.36166,13.86,Q16671_R406Q,R,Q,406,RQ,R406Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.792,-2.259,0.467,,,,,,18.518,18.518,86.56,0.0016227,0,0.0553374,1.01537
2154,Q12840,N,S,256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,18971,15634,ENSG00000155980,ENST00000455537,CCDS8945.1,KIF5A,0.25,probably_damaging,0.999,deleterious,0,4.43093,23.6,Q12840_N256S,N,S,256,NS,N256S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.26,-2.671,1.411,0.244,.,B,0.34,-0.68,,,,0.000248608,0,0.00847804,0.848001
2186,P42357,P,L,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,36,34,ENSG00000084110,ENST00000541929,,HAL,0.11,probably_damaging,0.998,deleterious,0,5.37167,34,P42357_P51L,P,L,51,PL,P51L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00047755,0,0.0162854,0.98481
2216,P00439,Y,D,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,568,9114,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.61,probably_damaging,0.999,deleterious,0.01,3.51176,17.94,P00439_Y277D,Y,D,277,YD,Y277D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.446,-3.556,2.11,0.448,.,B,0.96,0.26,3.293,,90.49,0.000861766,0,0.029388,0.833835
2222,P00439,L,S,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,523,9179,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.56,probably_damaging,1,deleterious,0,4.5392,24.5,P00439_L255S,L,S,255,LS,L255S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.398,-3.491,2.093,0.022,H,A,0.82,-0.73,1.151,,52.21,0.000397672,0,0.0135614,0.635111
2263,P10916,P,A,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,975,183,ENSG00000111245,ENST00000548438,,MYL2,0.53,benign,0.022,deleterious,0.03,1.46751,10.85,P10916_P81A,P,A,81,PA,P81A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,,,,,,,,,,,,0.00562727,0,0.191902,0.960601
2321,P32754,Y,X,258,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.07,,,,,,,,,2873,62,ENSG00000158104,ENST00000289004,CCDS9224.1,HPD,0.66,,,,,1.76018,11.84,P32754_Y258X,Y,X,258,YX,Y258X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00302906,0,0.103297,0.945391
2323,P32754,Y,C,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,66,736,ENSG00000158104,ENST00000289004,CCDS9224.1,HPD,0.41,benign,0.021,deleterious,0,1.66593,11.53,P32754_Y160C,Y,C,160,YC,Y160C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.705,-4.702,2.997,0.276,.,B,0.25,0.48,1.001,,92.37,0.00261838,0,0.089292,0.746882
2335,P29033,D,V,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.12,,,,,,,,,675,1634,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.7,benign,0.214,tolerated,0.19,1.09695,9.476,P29033_D159V,D,V,159,DV,D159V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-2.105,-3.971,1.866,0.72,T,l,1.19,0.93,3.735,,93.81,0.00616407,0,0.210207,0.891816
2345,P29033,N,K,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,361,1948,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.24,probably_damaging,1,deleterious,0,3.27137,16.98,P29033_N54K,N,K,54,NK,N54K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-0.882,-3.364,2.482,0.469,S,b,1.73,-1.32,2.614,,49.56,0.00166687,0,0.0568439,0.537276
2385,Q9Y619,M,R,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,5953,8268,ENSG00000102743,ENST00000338625,CCDS9373.1,SLC25A15,0.12,probably_damaging,0.986,deleterious,0,2.60465,14.67,Q9Y619_M37R,M,R,37,MR,M37R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.541,-3.485,1.944,,,,,,,,,0.00487574,0,0.166273,0.849803
2438,P35670,M,V,769,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0,0,0,,,,,,3555,4,ENSG00000123191,ENST00000418097,,ATP7B,0.55,probably_damaging,0.998,deleterious,0,4.53879,24.5,P35670_M769V,M,V,769,MV,M769V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.173,-2.441,1.268,,,,,,10.216,6.744,44.98,0.00027986,0,0.00954379,0.943522
2439,P35670,T,R,766,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,3547,5,ENSG00000123191,ENST00000418097,,ATP7B,0.55,probably_damaging,0.998,deleterious,0,4.99387,29.3,P35670_T766R,T,R,766,TR,T766R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.036,-4.078,3.042,,,,,,2.468,,44.98,0.000318369,0,0.010857,0.831057
2494,P03950,K,I,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0.002,0.001,0.003,0.001,,,,0.001,4904,206,ENSG00000214274,ENST00000336811,CCDS9554.1,ANG,0.28,benign,0.383,deleterious,0.04,0.291884,5.58,P03950_K41I,K,I,41,KI,K41I,PositiveCharge,Hydrophobic,9.74,6.02,-3.72,146,131,-15,168.6,166.7,-1.9,102,-1.646,-3.967,2.321,0.858,.,b,2.82,0.64,4.035,,76.19,0.0101276,0.0188679,0.345372,0.806718
2501,P03950,V,I,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,5191,214,ENSG00000214274,ENST00000336811,CCDS9554.1,ANG,0.93,possibly_damaging,0.857,deleterious,0.03,2.67918,14.92,P03950_V137I,V,I,137,VI,V137I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.228,-2.842,1.614,0.217,E,a,0.04,-0.66,3.387,,66.67,0.0125944,0,0.429493,0.836737
2523,P12883,R,C,723,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,9905,13076,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.37,probably_damaging,0.996,deleterious,0,3.84431,19.53,P12883_R723C,R,C,723,RC,R723C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.657,-4.864,3.207,0.145,G,A,1.66,0,0.699,,81.09,0.000207023,0,0.00705992,0.637285
2527,P12883,S,L,642,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,8448,14533,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.33,possibly_damaging,0.853,deleterious,0.01,5.06098,31,P12883_S642L,S,L,642,SL,S642L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.634,-3.292,1.658,0.328,T,l,0.82,0,2.123,,75.45,0.000212246,0,0.00723804,0.878888
2534,P12883,T,M,441,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,6679,16302,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.23,benign,0.018,deleterious,0.02,1.09246,9.458,P12883_T441M,T,M,441,TM,T441M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.193,-2.571,0.378,,,,,,15.051,15.051,92.92,0.000552639,0,0.0188461,1.01251
2547,Q9BSI4,T,A,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,32,27,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.63,probably_damaging,0.997,deleterious,0.02,3.87855,19.71,Q9BSI4_T284A,T,A,284,TA,T284A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.135,-2.797,1.662,,,,,,3.641,,67.85,0.00286914,0,0.0978435,0.953757
2548,Q9BSI4,P,H,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,34,29,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.63,probably_damaging,0.999,deleterious,0,3.82288,19.41,Q9BSI4_P283H,P,H,283,PH,P283H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-0.906,-4.536,3.63,,,,,,,,,0.00282993,0,0.0965065,0.769591
2549,Q9BSI4,P,S,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,35,30,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.63,probably_damaging,0.999,deleterious,0,4.01322,20.6,Q9BSI4_P283S,P,S,283,PS,P283S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.906,-3.241,2.335,,,,,,,,,0.00282993,0,0.0965065,0.79831
2550,Q9BSI4,P,A,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,35,30,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.63,probably_damaging,0.998,deleterious,0,3.80877,19.34,Q9BSI4_P283A,P,A,283,PA,P283A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-0.906,-2.933,2.027,,,,,,,,,0.00282993,0,0.0965065,0.839054
2551,Q9BSI4,R,C,282,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,38,33,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.63,probably_damaging,0.952,deleterious,0,3.98602,20.4,Q9BSI4_R282C,R,C,282,RC,R282C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.101,-4.943,3.842,,,,,,,,,0.00278962,0,0.0951318,0.74345
2552,Q9BSI4,R,S,282,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,38,33,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.63,possibly_damaging,0.839,deleterious,0,4.32829,22.7,Q9BSI4_R282S,R,S,282,RS,R282S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.101,-3.241,2.14,,,,,,,,,0.00278962,0,0.0951318,0.792886
2553,Q9BSI4,E,K,281,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,0,0.001,0,,,,,,41,36,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.62,possibly_damaging,0.841,deleterious,0.01,4.46763,23.9,Q9BSI4_E281K,E,K,281,EK,E281K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.324,-3.037,1.713,,,,,,2.751,,53.66,0.00309106,0,0.105412,0.93985
2556,Q9BSI4,S,Y,245,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0,0,0,0.001,,,,0.001,148,143,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.54,benign,0.236,deleterious,0.01,1.51337,11.01,Q9BSI4_S245Y,S,Y,245,SY,S245Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-2.391,-4.213,1.822,,,,,,1.465,,82.26,0.00269325,0,0.0918455,0.935613
2622,P12644,A,V,346,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0,,,,,,,,,1926,34,ENSG00000125378,ENST00000558984,CCDS9715.1,BMP4,0.85,possibly_damaging,0.722,deleterious,0.05,4.5168,24.3,P12644_A346V,A,V,346,AV,A346V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.486,-3.039,1.553,0.019,B,B,0.44,-1.15,6.329,,88.48,0.00286307,0,0.0976366,0.7428
2655,Q96NR8,I,N,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,2083,9895,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.16,probably_damaging,1,deleterious,0,4.8753,27.9,Q96NR8_I51N,I,N,51,IN,I51N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.316,-3.993,2.677,,,,,,0.679,,49.05,0.00277854,0,0.0947538,0.836542
2663,Q96NR8,Q,X,189,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.08,,,,,,,,,68,278,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.6,,,,,4.20254,21.8,Q96NR8_Q189X,Q,X,189,QX,Q189X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00569412,0,0.194181,0.926666
2727,P16473,S,N,505,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.12,,,,,,,,,26843,2731,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.66,probably_damaging,0.975,deleterious,0,3.12405,16.44,P16473_S505N,S,N,505,SN,S505N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-0.988,-2.929,1.941,,,,,,10.115,10.115,86.91,0.000514199,0,0.0175352,0.955596
2742,Q9UBX5,G,E,417,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,4481,109,ENSG00000140092,ENST00000556154,,FBLN5,0.92,probably_damaging,0.998,deleterious,0,5.26817,33,Q9UBX5_G417E,G,E,417,GE,G417E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,,,,0.947149
2780,Q04671,R,W,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,0.078,0.134,0.05,0.06,,0.07,0.13,0.06,84406,64398,ENSG00000104044,ENST00000354638,CCDS10020.1,OCA2,0.36,benign,0.422,deleterious,0.01,1.70057,11.65,Q04671_R305W,R,W,305,RW,R305W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.844,-2.557,0.713,,,,,,34.367,34.367,79.71,0.00101264,0,0.0345331,0.989461
2800,P26440,A,V,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0.001,0.001,0.001,0.001,,,0.002,0.001,308,8,ENSG00000128928,ENST00000473112,,IVD,0.75,possibly_damaging,0.559,deleterious,0.01,5.47184,35,P26440_A231V,A,V,231,AV,A231V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00325805,0,0.111106,0.966032
2807,P20807,P,L,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,33062,11640,ENSG00000092529,ENST00000397163,CCDS45245.1,CAPN3,0.39,possibly_damaging,0.659,deleterious,0.04,2.94542,15.82,P20807_P319L,P,L,319,PL,P319L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.535,-2.029,0.494,,,,,,17.975,17.975,47.87,0.00149843,0,0.0510994,0.991436
2814,Q8IWY9,F,I,868,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,1699,5504,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.71,possibly_damaging,0.733,deleterious,0,5.34658,34,Q8IWY9_F868I,F,I,868,FI,F868I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,-0.917,-3.483,2.566,,,,,,1.169,,43.44,0.000568759,0,0.0193958,0.847322
2815,Q8IWY9,R,W,714,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,0.001,0.002,,,,133,7070,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.58,possibly_damaging,0.86,deleterious,0,3.10116,16.36,Q8IWY9_R714W,R,W,714,RW,R714W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.998,-5.385,3.387,,,,,,0.461,,66.34,0.000520512,0,0.0177505,0.844572
2823,Q96JI7,R,X,2034,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.05,,,,,,,,,32,83,ENSG00000104133,ENST00000558319,,SPG11,0.98,,,,,12.8605,46,Q96JI7_R2034X,R,X,2034,RX,R2034X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2891,P06865,R,H,515,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,344,50,ENSG00000213614,ENST00000566304,,HEXA,0.95,probably_damaging,0.969,deleterious,0,4.87563,27.9,P06865_R515H,R,H,515,RH,R515H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.0151385,0,0.516255,0.96115
2892,P06865,R,C,515,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,0,0,0,,,,,,343,51,ENSG00000213614,ENST00000566304,,HEXA,0.95,probably_damaging,0.995,deleterious,0,4.45081,23.7,P06865_R515C,R,C,515,RC,R515C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.0151385,0,0.516255,0.900822
2893,P06865,R,H,510,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,329,65,ENSG00000213614,ENST00000566304,,HEXA,0.94,probably_damaging,1,deleterious,0,5.22004,33,P06865_R510H,R,H,510,RH,R510H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,0.154,T,A,1.03,-2,,,,0.0207077,0.0526316,0.706174,0.563393
2894,P06865,R,C,510,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,328,66,ENSG00000213614,ENST00000566304,,HEXA,0.94,probably_damaging,1,deleterious,0,3.78703,19.23,P06865_R510C,R,C,510,RC,R510C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.154,T,A,1.66,-2,,,,0.0207077,0.0526316,0.706174,0.51322
2938,P05108,A,V,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,14501,13,ENSG00000140459,ENST00000358632,CCDS45303.1,CYP11A1,0.09,benign,0.035,deleterious,0.02,1.04282,9.259,P05108_A31V,A,V,31,AV,A31V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00136593,0.00204082,0.0465809,0.914935
2955,P16930,P,L,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0,0,0,,,,,,882,665,ENSG00000103876,ENST00000407106,CCDS10314.1,FAH,0.62,probably_damaging,1,deleterious,0,3.56442,18.17,P16930_P261L,P,L,261,PL,P261L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,0.075,S,A,1.07,-0.8,,,,0.00103813,0,0.0354025,0.547075
2972,P54098,H,Y,932,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,123,133,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.75,probably_damaging,1,deleterious,0,4.75393,26.6,P54098_H932Y,H,Y,932,HY,H932Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-0.884,-3.481,2.597,,,,,,1.097,,55.61,0.000484425,0,0.0165199,0.856255
2980,P54098,Q,H,497,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,315,8,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.4,possibly_damaging,0.53,deleterious,0.03,3.57182,18.2,P54098_Q497H,Q,H,497,QH,Q497H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-2.454,-4.885,2.431,,,,,,2.174,,43.02,0.00077281,0,0.0263544,0.868879
3026,P49815,R,G,868,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,7,3455,ENSG00000103197,ENST00000439673,,TSC2,0.51,probably_damaging,0.985,deleterious,0,3.70728,18.83,P49815_R868G,R,G,868,RG,R868G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,,,,0.902988
3027,P49815,R,W,868,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,7,3455,ENSG00000103197,ENST00000439673,,TSC2,0.51,probably_damaging,0.998,deleterious,0,4.01503,20.6,P49815_R868W,R,W,868,RW,R868W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
3028,P49815,R,Q,868,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,6,3454,ENSG00000103197,ENST00000439673,,TSC2,0.51,probably_damaging,0.983,deleterious,0,5.51976,35,P49815_R868Q,R,Q,868,RQ,R868Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
3046,O15553,R,H,761,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,13383,64,ENSG00000103313,ENST00000219596,CCDS10498.1,MEFV,0.97,benign,0,tolerated,1,-2.2661,0.004,O15553_R761H,R,H,761,RH,R761H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.78,-1.895,-0.885,0.252,.,A,1.03,1.31,31.505,31.505,88.99,0.0109849,0,0.374608,1.03594
3051,O15553,R,H,653,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,13059,388,ENSG00000103313,ENST00000219596,CCDS10498.1,MEFV,0.84,benign,0,tolerated,1,-2.28292,0.004,O15553_R653H,R,H,653,RH,R653H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-3.713,-1.68,-2.033,0.244,E,B,1.03,-0.67,33.001,33.001,93.21,0.00290366,0,0.0990208,0.972593
3076,O15305,D,E,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,353,103,ENSG00000140650,ENST00000268261,CCDS10536.1,PMM2,0.91,possibly_damaging,0.667,deleterious,0.03,3.71846,18.88,O15305_D223E,D,E,223,DE,D223E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.139,-2.5,1.361,0.079,S,B,0.29,0.16,,,,0.017167,0.0434783,0.585429,0.790188
3122,O95255,A,T,1291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,0.03,0.088,0,0.03,,0.02,0.11,0.003,65761,7541,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.86,benign,0.018,deleterious,0.01,1.76387,11.86,O95255_A1291T,A,T,1291,AT,A1291T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-2.245,-3.117,0.872,,,,,,13.236,13.236,74.12,0.000617376,0,0.0210538,0.986689
3154,O95255,D,E,1056,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,57674,15628,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.7,probably_damaging,1,deleterious,0,2.79145,15.3,O95255_D1056E,D,E,1056,DE,D1056E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-0.734,-3.039,2.305,,,,,,4.138,,80.17,0.000108803,0,0.00371042,0.871698
3155,O95255,S,A,1049,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,57651,15651,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.7,possibly_damaging,0.76,tolerated,0.28,3.15643,16.56,O95255_S1049A,S,A,1049,SA,S1049A,Polar,Hydrophobic,5.68,6,0.32,105,89,-16,89,88.6,-0.4,99,-1.322,-1.676,0.354,,,,,,15.803,15.803,80.17,0.000564121,0,0.0192377,1.00142
3170,O95255,Q,X,842,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.01,,,,,,,,,4,4436,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.56,,,,,8.05515,40,O95255_Q842X,Q,X,842,QX,Q842X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000584962,0,0.0199484,0.98231
3206,O95255,F,S,568,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,34528,7202,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.38,probably_damaging,1,deleterious,0,4.4783,24,O95255_F568S,F,S,568,FS,F568S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-0.716,-3.777,3.061,,,,,,1.202,,37.66,0.000109533,0,0.0037353,0.802651
3208,O95255,F,S,551,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,34477,7253,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.37,probably_damaging,1,deleterious,0,4.42289,23.5,O95255_F551S,F,S,551,FS,F551S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-0.952,-3.823,2.871,,,,,,3.391,,41.25,0.000193784,0,0.00660845,0.802366
3221,O95255,R,G,391,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0.007,0.002,0.009,0.003,,0.003,,0.01,21429,6,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.26,probably_damaging,0.996,deleterious,0,2.83297,15.44,O95255_R391G,R,G,391,RG,R391G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.482,-3.671,2.189,,,,,,2.868,,32.6,0.000435013,0,0.0148348,0.823713
3229,O95255,L,R,355,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,21322,113,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.24,probably_damaging,0.997,deleterious,0,3.41666,17.55,O95255_L355R,L,R,355,LR,L355R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.491,-4.312,2.821,,,,,,2.16,,47.57,0.000486814,0,0.0166013,0.839353
3232,O95255,E,X,242,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.05,,,,,,,,,14637,6798,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.16,,,,,3.28871,17.05,O95255_E242X,E,X,242,EX,E242X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000561591,0,0.0191514,0.980139
3233,O95255,G,R,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,14589,6846,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.15,probably_damaging,0.999,deleterious,0,3.07992,16.28,O95255_G226R,G,R,226,GR,G226R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.601,-4.085,3.484,,,,,,1.512,,38.06,0.000215187,0,0.00733832,0.819886
3269,O14983,R,X,198,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.09,,,,,,,,,428,13383,ENSG00000196296,ENST00000395503,CCDS42139.1,ATP2A1,0.2,,,,,7.27054,38,O14983_R198X,R,X,198,RX,R198X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000268037,0,0.0091406,0.977351
3303,Q9HC29,R,Q,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,13772,40,ENSG00000167207,ENST00000300589,CCDS10746.1,NOD2,0.32,probably_damaging,1,deleterious,0,3.04075,16.15,Q9HC29_R334Q,R,Q,334,RQ,R334Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.225,-3.299,2.074,,,,,,4.636,,71.15,0.000392531,0,0.0133861,0.985177
3306,Q9HC29,H,L,496,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,797,447,ENSG00000167207,ENST00000300589,CCDS10746.1,NOD2,0.48,possibly_damaging,0.796,tolerated,0.11,3.79189,19.25,Q9HC29_H496L,H,L,496,HL,H496L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.308,-3.355,2.047,,,,,,2.277,,33.27,0.000792992,0,0.0270427,0.876221
3333,P55017,P,L,348,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,7526,40669,ENSG00000070915,ENST00000566786,CCDS45491.1,SLC12A3,0.34,probably_damaging,0.999,deleterious,0,5.23029,33,P55017_P348L,P,L,348,PL,P348L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.000110761,0,0.00377717,0.992451
3335,P55017,A,V,587,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,18931,29264,ENSG00000070915,ENST00000566786,CCDS45491.1,SLC12A3,0.57,benign,0.366,deleterious,0,4.6115,25.2,P55017_A587V,A,V,587,AV,A587V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.000462361,0,0.0157675,0.99313
3355,P04180,M,I,317,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,2655,30,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.72,benign,0.172,deleterious,0.01,3.30228,17.1,P04180_M317I,M,I,317,MI,M317I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.406,-2.927,1.521,,,,,,,,,0.00306244,0,0.104435,0.903212
3366,P22223,R,H,503,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,0,0,0,,,,,,39987,13405,ENSG00000062038,ENST00000429102,,CDH3,0.64,probably_damaging,0.998,deleterious,0,3.41889,17.56,P22223_R503H,R,H,503,RH,R503H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.169,-3.253,2.084,0.175,T,A,1.03,1.02,14.349,14.349,52.96,0.000830622,0,0.0283259,0.753995
3418,P34059,S,F,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,147,1462,ENSG00000141012,ENST00000268695,CCDS10970.1,GALNS,0.31,probably_damaging,0.954,tolerated,0.64,2.68394,14.94,P34059_S162F,S,F,162,SF,S162F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.527,-3.907,2.38,,,,,,1.482,,67.24,0.00374711,0,0.127784,0.840903
3426,P55291,A,V,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0.001,0.002,0,0,,,,,11788,51,ENSG00000129910,ENST00000289746,CCDS10976.1,CDH15,0.15,probably_damaging,0.989,deleterious,0.01,3.98086,20.4,P55291_A122V,A,V,122,AV,A122V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.075,-2.121,1.046,0.058,E,B,0.44,-1.14,19.944,19.944,74.08,0.000771322,0,0.0263037,0.72199
3434,Q6P2Q9,R,K,2310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,389,41,ENSG00000174231,ENST00000572621,CCDS11010.1,PRPF8,0.99,probably_damaging,0.995,deleterious,0,5.3693,34,Q6P2Q9_R2310K,R,K,2310,RK,R2310K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,-1.961,-2.385,0.424,0.342,S,B,1.14,2.25,,,,,,,0.950188
3466,O60931,D,N,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,1366,176,ENSG00000040531,ENST00000046640,CCDS11031.1,CTNS,0.56,probably_damaging,0.936,deleterious,0,5.06925,31,O60931_D205N,D,N,205,DN,D205N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.985,-3.04,2.055,,,,,,,,,0.00171972,0,0.058646,0.798372
3475,Q04844,L,P,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,363,665,ENSG00000108556,ENST00000293780,CCDS11058.1,CHRNE,0.2,probably_damaging,0.988,deleterious,0,2.82162,15.4,Q04844_L98P,L,P,98,LP,L98P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.512,-3.964,2.452,0.401,E,B,1.07,0,0.803,,54.16,0.00235686,0,0.0803739,0.692513
3488,P49748,V,A,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0.001,0,0.001,,,,,,326,126,ENSG00000072778,ENST00000356839,CCDS11090.1,ACADVL,0.43,benign,0.406,deleterious,0,4.19553,21.8,P49748_V283A,V,A,283,VA,V283A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.882,-3.393,1.511,,E,B,0.44,-0.46,3.731,,82.44,0.00146807,0,0.0500641,0.811509
3490,P49748,T,M,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,0.001,0.002,,,,1,45,ENSG00000072778,ENST00000542255,,ACADVL,0.1,,,,,1.00905,9.121,P49748_T29M,T,M,29,TM,T29M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00011987,0,0.0040878,1.00047
3516,P04637,R,W,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,634,4,ENSG00000141510,ENST00000413465,,TP53,0.87,probably_damaging,0.999,deleterious,0,3.71002,18.84,P04637_R248W,R,W,248,RW,R248W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.994,-5.403,4.409,0.949,S,L,1.67,0,0.334,,64.12,0.0015331,0,0.0522819,0.652629
3528,Q02846,E,D,837,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,12105,5641,ENSG00000132518,ENST00000254854,CCDS11127.1,GUCY2D,0.76,probably_damaging,1,deleterious,0.01,3.92198,19.95,Q02846_E837D,E,D,837,ED,E837D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.005,-2.649,1.644,,,,,,,,,0.000660009,0,0.0225077,0.914823
3529,Q02846,R,H,838,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,12107,5639,ENSG00000132518,ENST00000254854,CCDS11127.1,GUCY2D,0.76,probably_damaging,1,deleterious,0,5.13396,32,Q02846_R838H,R,H,838,RH,R838H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,,,,,,,,,0.000433273,0,0.0147755,0.824235
3558,Q01453,M,K,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,4813,243,ENSG00000109099,ENST00000426385,,PMP22,0.55,,,,,2.95271,15.84,Q01453_M69K,M,K,69,MK,M69K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.541,-3.234,1.693,,,,,,,,,0.00769055,0,0.262264,0.835449
3559,Q01453,A,T,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,4806,250,ENSG00000109099,ENST00000426385,,PMP22,0.54,,,,,3.77603,19.17,Q01453_A67T,A,T,67,AT,A67T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,,,,,,,,,0.00650985,0,0.221999,0.840753
3613,#N/A,R,H,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.12,,,,,,,,,5529,52236,ENSG00000108753,ENST00000560016,,HNF1B,0.3,probably_damaging,0.999,deleterious,0,5.53616,35,#N/A_R165H,R,H,165,RH,R165H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
3614,#N/A,S,W,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,5478,52287,ENSG00000108753,ENST00000560016,,HNF1B,0.27,probably_damaging,1,deleterious,0,4.74813,26.5,#N/A_S148W,S,W,148,SW,S148W,Polar,Hydrophobic,5.68,5.89,0.21,105,204,99,89,227.8,138.8,177,,,,,,,,,,,,,,,0.932962
3643,P35527,M,V,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,535,5680,ENSG00000171403,ENST00000246662,CCDS32654.1,KRT9,0.25,probably_damaging,0.999,deleterious,0.01,2.3484,13.81,P35527_M157V,M,V,157,MV,M157V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.525,-2.826,1.301,,,,,,10.95,,62.12,0.000397821,0,0.0135665,0.956375
3698,P35575,Q,X,242,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,10278,2294,ENSG00000131482,ENST00000253801,CCDS11446.1,G6PC,0.68,,,,,3.27268,16.98,P35575_Q242X,Q,X,242,QX,Q242X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3756,P08514,C,X,521,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.01,,,,,,,,,5038,226,ENSG00000005961,ENST00000353281,,ITGA2B,0.52,,,,,5.23811,33,P08514_C521X,C,X,521,CX,C521X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000574639,0,0.0195964,0.980504
3758,P08514,I,T,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,4263,1001,ENSG00000005961,ENST00000353281,,ITGA2B,0.4,possibly_damaging,0.56,deleterious,0,3.35016,17.28,P08514_I405T,I,T,405,IT,I405T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-2.005,-3.302,1.297,,E,B,0.7,-0.49,4.238,,84.89,0.00111079,0,0.0378804,0.789768
3774,P05106,R,X,34,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.03,,,,,,,,,20542,17049,ENSG00000259207,ENST00000571680,,ITGB3,0.08,,,,,4.29883,22.5,P05106_R34X,R,X,34,RX,R34X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0012446,0,0.0424433,0.900587
3775,P05106,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.56,0.03,,,,,,,,,29455,8136,ENSG00000259207,ENST00000435993,,ITGB3,,,,,,2.46543,14.2,P05106_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3776,P05106,C,Y,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,29482,8109,ENSG00000259207,ENST00000435993,,ITGB3,0.02,probably_damaging,1,deleterious,0,4.77416,26.8,P05106_C17Y,C,Y,17,CY,C17Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.0004133,0,0.0140944,0.968699
3795,P02452,W,C,1312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,2176,542,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.9,,,deleterious,0,2.87504,15.58,P02452_W1312C,W,C,1312,WC,W1312C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.067,-4.785,3.718,,,,,,0.247,,11.54,0.000436125,0,0.0148728,0.757351
3903,P35499,T,M,704,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,15492,18873,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.38,probably_damaging,0.999,deleterious,0,4.21203,21.9,P35499_T704M,T,M,704,TM,T704M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-0.972,-4.506,3.534,,,,,,0.44,,50.87,4.12e-05,0,0.00140606,0.849613
3905,P35499,L,I,689,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,15446,18919,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.38,possibly_damaging,0.855,deleterious,0,4.25687,22.2,P35499_L689I,L,I,689,LI,L689I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,-1.093,-2.993,1.9,,,,,,5.734,,85.62,6.68e-05,0,0.00227928,0.976435
3987,P63261,P,L,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,90,40,ENSG00000184009,ENST00000571327,,ACTG1,0.69,probably_damaging,1,,,1.85814,12.17,P63261_P264L,P,L,264,PL,P264L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.516,-3.264,1.748,0.03,T,a,1.07,0,3.805,,67.73,0.000520416,0,0.0177472,0.778639
4019,Q01718,S,R,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,490,534,ENSG00000185231,ENST00000327606,CCDS11869.1,MC2R,0.4,probably_damaging,1,deleterious,0.03,3.16369,16.58,Q01718_S120R,S,R,120,SR,S120R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.275,-3.907,2.632,,,,,,2.253,,50.84,0.0023883,0,0.0814461,0.831904
4032,O15118,R,C,978,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,21692,6705,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.77,possibly_damaging,0.664,deleterious,0.04,3.96083,20.3,O15118_R978C,R,C,978,RC,R978C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.432,-4.424,1.992,,,,,,17.358,17.358,48.36,0.00114074,0,0.0389015,0.847027
4102,Q9ULV0,P,L,660,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,258806,113490,ENSG00000167306,ENST00000285039,CCDS42436.1,MYO5B,0.36,probably_damaging,0.999,deleterious,0,5.06568,31,Q9ULV0_P660L,P,L,660,PL,P660L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,,,,0.76981
4103,Q9ULV0,R,C,656,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,258793,113503,ENSG00000167306,ENST00000285039,CCDS42436.1,MYO5B,0.35,probably_damaging,0.98,deleterious,0,4.53998,24.5,Q9ULV0_R656C,R,C,656,RC,R656C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,,,,0.719288
4192,P36507,F,C,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,6565,27231,ENSG00000126934,ENST00000262948,CCDS12120.1,MAP2K2,0.14,probably_damaging,0.993,deleterious,0,4.04913,20.8,P36507_F57C,F,C,57,FC,F57C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.524,-4.544,3.02,,,,,,,,,,,,0.720644
4204,P06213,R,X,1027,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.08,,,,,,,,,168539,13207,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.74,,,,,9.50355,42,P06213_R1027X,R,X,1027,RX,R1027X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000641248,0,0.0218679,0.977351
4229,Q8IY17,M,V,1012,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,21757,5261,ENSG00000032444,ENST00000450331,CCDS32891.1,PNPLA6,0.76,possibly_damaging,0.886,deleterious,0,3.09182,16.33,Q8IY17_M1012V,M,V,1012,MV,M1012V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,0.000712602,0,0.0243012,0.993208
4246,P01130,C,S,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,9693,287,ENSG00000130164,ENST00000558013,,LDLR,0.05,probably_damaging,1,deleterious,0,3.75675,19.07,P01130_C46S,C,S,46,CS,C46S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.111,-3.241,2.13,,,,,,,,,0.000366079,0,0.0124841,0.851213
4260,O00754,Q,X,175,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,4860,131,ENSG00000104774,ENST00000433513,,MAN2B1,0.94,,,,,1.87034,12.21,O00754_Q175X,Q,X,175,QX,Q175X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0001826,0,0.00622703,0.98231
4266,O75792,R,W,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,3709,3326,ENSG00000104889,ENST00000221486,CCDS12282.1,RNASEH2A,0.62,probably_damaging,1,deleterious,0,3.05756,16.21,O75792_R186W,R,W,186,RW,R186W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,,,,0.757477
4270,O75792,R,H,291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,0,0,0,,,,,,6824,211,ENSG00000104889,ENST00000221486,CCDS12282.1,RNASEH2A,0.97,probably_damaging,0.991,deleterious,0,2.69334,14.97,O75792_R291H,R,H,291,RH,R291H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.543,-2.21,0.667,,,,,,27.115,27.115,76.59,,,,0.987035
4293,O00555,C,Y,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,146501,152411,ENSG00000141837,ENST00000573710,,CACNA1A,0.11,possibly_damaging,0.897,,,3.85255,19.57,O00555_C287Y,C,Y,287,CY,C287Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.661,-4.134,2.473,,,,,,0.482,,26.79,0.00010601,0,0.00361517,0.833624
4303,Q6NT55,R,H,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.15,,,,,,,,,15173,11811,ENSG00000171954,ENST00000269703,CCDS12331.1,CYP4F22,0.46,probably_damaging,0.996,deleterious,0.01,3.597,18.32,Q6NT55_R243H,R,H,243,RH,R243H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.0010283,0,0.0350672,0.750556
4318,Q92911,G,E,543,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,16459,6742,ENSG00000105641,ENST00000222248,CCDS12368.1,SLC5A5,0.84,probably_damaging,0.999,deleterious,0,2.64253,14.8,Q92911_G543E,G,E,543,GE,G543E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,0.00170025,0,0.0579821,0.733978
4345,P82251,Y,C,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0,0,0,,,,,,966,674,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.48,probably_damaging,1,deleterious,0,3.98349,20.4,P82251_Y232C,Y,C,232,YC,Y232C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,,,,,,,,,0.00202232,0,0.0689651,0.756182
4385,P21817,R,C,4856,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,146739,7126,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.96,,,,,3.02033,16.08,P21817_R4856C,R,C,4856,RC,R4856C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
4398,Q9BXM0,C,X,715,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,17158,2442,ENSG00000105227,ENST00000324001,CCDS33028.1,PRX,0.49,,,,,4.23166,22,Q9BXM0_C715X,C,X,715,CX,C715X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
4400,P11509,S,P,224,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,0.001,0.01,,,,3412,3497,ENSG00000255974,ENST00000301141,CCDS12568.1,CYP2A6,0.45,benign,0.019,tolerated,1,-1.49345,0.017,P11509_S224P,S,P,224,SP,S224P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-2.203,-1.749,-0.454,0.192,H,A,0.25,-0.8,24.336,24.336,84.41,0.00245613,0,0.0837592,0.941285
4495,P55344,F,V,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,5527,2520,ENSG00000105370,ENST00000221973,CCDS12831.1,LIM2,0.68,probably_damaging,0.98,deleterious,0.01,3.53216,18.03,P55344_F147V,F,V,147,FV,F147V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,,,,,,,,,,,,0.0110374,0,0.376399,0.931636
4510,P19429,K,Q,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,5882,81,ENSG00000129991,ENST00000344887,CCDS42628.1,TNNI3,0.98,probably_damaging,0.98,deleterious,0,4.49873,24.1,P19429_K206Q,K,Q,206,KQ,K206Q,PositiveCharge,Polar,9.74,6.24,-3.5,146,146,0,168.6,143.8,-24.8,53,-1.166,-3.226,2.06,,,,,,,,,0.052964,0.25,1.80618,0.817287
4511,P19429,D,N,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,0,0,0,,,,,,5852,111,ENSG00000129991,ENST00000344887,CCDS42628.1,TNNI3,0.93,probably_damaging,0.981,deleterious,0,5.01142,29.5,P19429_D196N,D,N,196,DN,D196N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.377,-3.153,1.776,,,,,,2.073,,50.95,0.0289817,0.0714286,0.988335,0.870358
4524,P07202,R,Q,648,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,9307,23007,ENSG00000115705,ENST00000329066,CCDS1643.1,TPO,0.69,probably_damaging,1,deleterious,0.01,3.79838,19.29,P07202_R648Q,R,Q,648,RQ,R648Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.101,-3.305,2.204,,,,,,,,,0.0003736,0,0.0127405,0.836032
4571,Q9HC10,W,X,1425,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.08,,,,,,,,,861,3680,ENSG00000115155,ENST00000403946,,OTOF,0.71,,,,,11.8557,45,Q9HC10_W1425X,W,X,1425,WX,W1425X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
4579,Q9HC10,P,Q,490,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,76163,25312,ENSG00000115155,ENST00000403946,,OTOF,0.25,probably_damaging,1,deleterious,0,4.84127,27.5,Q9HC10_P490Q,P,Q,490,PQ,P490Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-0.951,-4.073,3.122,,,,,,0.985,,24.09,,,,0.787511
4594,Q9UI10,R,Q,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,1848,117,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.68,possibly_damaging,0.761,tolerated,0.1,5.22656,33,Q9UI10_R356Q,R,Q,356,RQ,R356Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00233035,0,0.0794698,0.977843
4595,Q9UI10,R,W,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,0.001,,0.003,0.002,0.001,1847,118,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.68,probably_damaging,0.996,deleterious,0,4.0903,21.1,Q9UI10_R356W,R,W,356,RW,R356W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00233035,0,0.0794698,0.96958
4629,Q16678,D,N,374,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,537,58,ENSG00000138061,ENST00000407341,CCDS1793.1,CYP1B1,0.69,probably_damaging,0.969,deleterious,0,4.51729,24.3,Q16678_D374N,D,N,374,DN,D374N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.895,-3.098,2.203,0.073,G,A,0.14,0.66,,,,0.000849907,0,0.0289836,0.726281
4653,Q07837,R,H,362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.12,,,,,,,,,1049,11,ENSG00000138079,ENST00000260649,CCDS1819.1,SLC3A1,0.53,probably_damaging,0.986,deleterious,0.04,4.04632,20.8,Q07837_R362H,R,H,362,RH,R362H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.331,-4.233,2.902,,,,,,2.333,,76.2,0.0028859,0,0.0984151,0.863254
4747,P38435,L,R,394,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,759,122,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.52,probably_damaging,0.998,deleterious,0,3.74291,19.01,P38435_L394R,L,R,394,LR,L394R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.292,-3.53,2.238,,,,,,4.691,,64.64,0.00131146,0,0.0447235,0.85565
4749,P38435,S,F,300,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0,0,0,,,,,,316,565,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.4,probably_damaging,0.907,deleterious,0,4.0763,21,P38435_S300F,S,F,300,SF,S300F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.638,-4.132,2.494,,,,,,1.277,,93.67,0.00103039,0,0.0351384,0.848061
4750,P38435,F,S,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,313,568,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.39,probably_damaging,1,deleterious,0,3.98194,20.4,P38435_F299S,F,S,299,FS,F299S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.241,-3.388,2.147,,,,,,,,,0.000491699,0,0.0167679,0.818825
4781,Q9UNE0,R,H,407,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.13,,,,,,,,,92140,2652,ENSG00000135960,ENST00000409271,,EDAR,0.85,possibly_damaging,0.8,deleterious,0,5.38776,34,Q9UNE0_R407H,R,H,407,RH,R407H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00678955,0,0.231538,0.956595
4783,Q9UNE0,R,X,390,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.12,,,,,,,,,92088,2704,ENSG00000135960,ENST00000409271,,EDAR,0.81,,,,,7.96073,40,Q9UNE0_R390X,R,X,390,RX,R390X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00111052,0,0.037871,0.908362
4793,Q06710,R,X,108,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.05,,,,,,,,,8225,2943,ENSG00000125618,ENST00000263334,CCDS46399.1,PAX8,0.27,,,,,4.77017,26.8,Q06710_R108X,R,X,108,RX,R108X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000291209,0,0.00993082,0.977351
4800,P10070,W,X,441,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.03,,,,,,,,,177719,30,ENSG00000074047,ENST00000452319,CCDS33283.1,GLI2,0.28,,,,,5.81626,36,P10070_W441X,W,X,441,WX,W441X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000203083,0,0.00692554,0.956807
4811,P04070,E,A,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,1454,1701,ENSG00000115718,ENST00000409048,,PROC,0.13,probably_damaging,1,deleterious,0,4.76327,26.7,P04070_E62A,E,A,62,EA,E62A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-0.919,-2.987,2.068,,,,,,,,,0.000776353,0,0.0264752,0.839267
4911,P02708,R,L,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,10818,840,ENSG00000138435,ENST00000409542,,CHRNA1,0.39,,,deleterious,0,4.46415,23.8,P02708_R147L,R,L,147,RL,R147L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00106693,0,0.0363846,0.911988
4942,P02461,G,S,957,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,879,385,ENSG00000168542,ENST00000304636,CCDS2297.1,COL3A1,0.65,probably_damaging,0.998,deleterious,0,5.73837,36,P02461_G957S,G,S,957,GS,G957S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,0,,,,0.000291457,0,0.00993927,0.753359
4943,P02461,G,V,960,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,889,395,ENSG00000168542,ENST00000304636,CCDS2297.1,COL3A1,0.65,probably_damaging,0.982,deleterious,0,4.99052,29.3,P02461_G960V,G,V,960,GV,G960V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.192,-3.168,1.976,,,,,0,0.941,,9.82,0.000264458,0,0.00901857,0.707376
5032,Q9Y276,S,G,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,0,,,,,155,2,ENSG00000074582,ENST00000423377,,BCS1L,0.71,probably_damaging,0.975,deleterious,0,4.8127,27.2,Q9Y276_S78G,S,G,78,SG,S78G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-1.348,-2.644,1.296,,,,,,,,,0.00326957,0,0.111499,0.90068
5035,Q9Y276,R,H,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,6,71,ENSG00000074582,ENST00000412366,CCDS2419.1,BCS1L,0.44,probably_damaging,0.994,deleterious,0,5.02455,29.7,Q9Y276_R183H,R,H,183,RH,R183H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.543,-2.21,0.667,,,,,,29.489,29.489,83.29,0.0040719,0,0.13886,1.0139
5036,Q9Y276,R,C,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,0,0,0,,,,,,4,69,ENSG00000074582,ENST00000412366,CCDS2419.1,BCS1L,0.44,probably_damaging,0.958,deleterious,0,4.65631,25.6,Q9Y276_R184C,R,C,184,RC,R184C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.543,-4.898,3.355,,,,,,0.73,,83.29,0.0045046,0,0.153616,0.822264
5064,P17661,L,P,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,1228,2471,ENSG00000175084,ENST00000373960,CCDS33383.1,DES,0.73,probably_damaging,0.995,deleterious,0,4.32033,22.7,P17661_L345P,L,P,345,LP,L345P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00226786,0,0.0773388,0.786354
5107,Q07001,E,K,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,1249,1474,ENSG00000135902,ENST00000258385,CCDS2494.1,CHRND,0.15,possibly_damaging,0.597,deleterious,0.04,5.04496,29.9,Q07001_E80K,E,K,80,EK,E80K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.441,-3.105,1.664,0.214,E,B,1.3,0,4.004,,87.81,0.00146956,0,0.050115,0.861195
5124,P12111,L,R,1119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,29808,42236,ENSG00000163359,ENST00000472056,CCDS33410.2,COL6A3,0.44,probably_damaging,0.999,,,1.98352,12.59,P12111_L1119R,L,R,1119,LR,L1119R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,,,,0.946893
5127,Q9BV36,R,W,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,6253,17146,ENSG00000115648,ENST00000445024,,MLPH,0.06,probably_damaging,1,deleterious,0.03,3.04073,16.15,Q9BV36_R35W,R,W,35,RW,R35W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.101,-5.178,4.077,0.162,H,A,1.67,-0.9,,,,0.00022032,0,0.00751337,0.582213
5239,O43837,L,P,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,359,407,ENSG00000101365,ENST00000380843,CCDS13032.1,IDH3B,0.34,probably_damaging,0.986,deleterious,0,4.29527,22.5,O43837_L132P,L,P,132,LP,L132P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00409515,0,0.139653,0.777763
5276,P04156,G,V,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,13069,260,ENSG00000171867,ENST00000424424,,PRNP,0.53,probably_damaging,1,deleterious,0,3.80416,19.32,P04156_G131V,G,V,131,GV,G131V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.952,-2.505,1.553,0.092,.,B,0.73,-0.28,5.108,5.108,40.32,0.00172682,0,0.0588882,0.694814
5306,P01034,L,Q,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,2616,1673,ENSG00000101439,ENST00000398411,CCDS13158.1,CST3,0.64,probably_damaging,0.933,deleterious,0,1.91928,12.38,P01034_L94Q,L,Q,94,LQ,L94Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.739,-3.97,2.231,,E,B,1.19,-1.05,2.636,,89.04,0.01082,0,0.368983,0.571051
5317,Q9UBC3,G,S,655,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,21064,13,ENSG00000088305,ENST00000201963,CCDS13204.1,DNMT3B,0.78,probably_damaging,0.966,deleterious,0,6.00072,37,Q9UBC3_G655S,G,S,655,GS,G655S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00119308,0,0.0406863,0.91648
5332,P48637,R,C,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0,0.001,0,,,,,,4124,13778,ENSG00000100983,ENST00000216951,CCDS13245.1,GSS,0.26,probably_damaging,0.995,deleterious,0,5.35782,34,P48637_R125C,R,C,125,RC,R125C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.051,E,B,1.66,-0.97,,,,0.000947273,0,0.032304,0.459849
5386,P25942,C,R,83,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,31,4813,ENSG00000101017,ENST00000372285,CCDS13393.1,CD40,0.3,probably_damaging,1,deleterious,0,2.78703,15.28,P25942_C83R,C,R,83,CR,C83R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.252,-4.059,2.807,0.105,.,b,1.66,-0.4,0.869,,42.6,0.000875988,0,0.029873,0.494086
5403,O95467,S,R,250,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,294,1,ENSG00000087460,ENST00000371085,CCDS13472.1,GNAS,0.63,probably_damaging,0.991,tolerated,0.08,4.19085,21.7,O95467_S250R,S,R,250,SR,S250R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,,,,0.94527
5405,O95467,A,S,366,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.12,,,,,,,,,732,42,ENSG00000087460,ENST00000371085,CCDS13472.1,GNAS,0.93,probably_damaging,0.996,deleterious,0,5.2154,33,O95467_A366S,A,S,366,AS,A366S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,,,,,,,,,,,,,,,0.949982
5430,O43526,N,S,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,30190,8770,ENSG00000075043,ENST00000359689,,KCNQ2,0.3,benign,0.032,deleterious,0.03,2.96823,15.9,O43526_N258S,N,S,258,NS,N258S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.618,-2.578,0.96,,,,,,19.369,19.369,89.11,0.00047137,0,0.0160747,0.988473
5500,P15382,S,L,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,0.001,,,,0.001,6328,169,ENSG00000180509,ENST00000416357,CCDS13636.1,KCNE1,0.57,probably_damaging,0.993,deleterious,0,3.56113,18.16,P15382_S74L,S,L,74,SL,S74L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.068,-3.214,2.146,0.552,.,b,0.82,0,,,,0.00665391,0,0.226912,0.681489
5503,Q01196,R,Q,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,94,3072,ENSG00000159216,ENST00000486278,,RUNX1,0.93,probably_damaging,0.981,deleterious,0.04,5.20933,33,Q01196_R177Q,R,Q,177,RQ,R177Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.88,.,?,0.56,2.22,,,,0.000836954,0,0.0285418,0.937274
5544,P05107,N,S,351,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,975,9046,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.46,benign,0.059,deleterious,0.02,2.08034,12.91,P05107_N351S,N,S,351,NS,N351S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.008,-2.791,1.783,0.338,S,a,0.34,0.24,,,,0.000288591,0,0.00984155,0.881809
5589,Q9UBR1,A,E,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,0.005,0.015,0,0.003,,0.003,0.01,,5014,3483,ENSG00000100024,ENST00000382760,,UPB1,0.46,possibly_damaging,0.598,deleterious,0,2.62552,14.74,Q9UBR1_A85E,A,E,85,AE,A85E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.739,-3.328,1.589,,,,,,3.544,,88.02,0.00171028,0,0.0583242,0.955259
5632,Q9H2D6,R,X,347,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.01,,,,,,,,,25974,2976,ENSG00000100106,ENST00000406386,CCDS43015.1,TRIOBP,0.15,,,,,4.34935,22.9,Q9H2D6_R347X,R,X,347,RX,R347X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5634,Q9H2D6,R,X,788,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,0,0,0,,,,,,27297,1653,ENSG00000100106,ENST00000406386,CCDS43015.1,TRIOBP,0.33,,,,,5.60529,36,Q9H2D6_R788X,R,X,788,RX,R788X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5689,Q9BV10,G,R,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,514,6641,ENSG00000182858,ENST00000330817,CCDS14081.1,ALG12,0.21,possibly_damaging,0.602,tolerated,0.09,4.49633,24.1,Q9BV10_G101R,G,R,101,GR,G101R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.218,-3.715,2.497,,,,,,2.579,,81.56,0.00378383,0,0.129036,0.857841
5696,O43819,S,F,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,1213,142,ENSG00000130489,ENST00000395693,CCDS14095.1,SCO2,0.85,probably_damaging,0.992,deleterious,0,2.62067,14.72,O43819_S225F,S,F,225,SF,S225F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.476,-4.05,2.574,0.608,.,a,0.85,0.15,1.082,,47.37,0.00672519,0,0.229343,0.620134
5752,Q8NBK3,A,V,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0,0,0,0,,,,,50114,55023,ENSG00000144455,ENST00000383843,CCDS54548.1,SUMF1,0.73,possibly_damaging,0.512,deleterious,0,5.01337,29.5,Q8NBK3_A254V,A,V,254,AV,A254V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00450629,0,0.153674,0.95391
5758,P56539,R,Q,27,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,90,12801,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.18,probably_damaging,1,deleterious,0,4.97279,29,P56539_R27Q,R,Q,27,RQ,R27Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.797,-3.64,2.843,,,,,,1.139,,29.8,0.00565497,0.0241935,0.192846,0.824518
5760,P56539,P,T,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,95,12796,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.19,probably_damaging,0.999,deleterious,0,4.13665,21.4,P56539_P29T,P,T,29,PT,P29T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.207,-3.092,1.885,,,,,,7.166,7.166,56.95,0.00824346,0,0.281119,0.850173
5761,P56539,P,H,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,96,12795,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.19,probably_damaging,0.999,deleterious,0,4.13582,21.3,P56539_P29H,P,H,29,PH,P29H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.207,-4.864,3.657,,,,,,1.156,,56.95,0.00824346,0,0.281119,0.759168
5764,P56539,V,E,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,502,1215,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.29,probably_damaging,0.999,deleterious,0,2.75654,15.18,P56539_V44E,V,E,44,VE,V44E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.164,-4.052,2.888,,,,,,1.626,,73.51,0.00943999,0,0.321923,0.801955
5765,P56539,A,T,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,507,1210,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.3,probably_damaging,1,deleterious,0,3.45601,17.71,P56539_A46T,A,T,46,AT,A46T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.05,-3.59,2.54,,,,,,2.339,,38.41,0.00895853,0,0.305504,0.75776
5766,P56539,A,V,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,508,1209,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.3,probably_damaging,1,deleterious,0,3.40833,17.51,P56539_A46V,A,V,46,AV,A46V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.05,-3.591,2.541,,,,,,1.174,,38.41,0.00895853,0,0.305504,0.755915
5768,P56539,S,G,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,528,1189,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.35,probably_damaging,1,deleterious,0,3.92931,19.99,P56539_S53G,S,G,53,SG,S53G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-0.951,-2.238,1.287,,,,,,15.532,15.532,19.87,0.00699244,0,0.238457,0.861327
5817,P04049,P,S,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,25,54,ENSG00000132155,ENST00000432427,,RAF1,0.27,probably_damaging,0.992,deleterious,0.03,4.19417,21.7,P04049_P140S,P,S,140,PS,P140S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.000828997,0,0.0282705,0.994616
5844,P10828,G,R,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,37947,4811,ENSG00000151090,ENST00000396671,CCDS2641.1,THRB,0.72,probably_damaging,0.998,deleterious,0,5.51434,35,P10828_G332R,G,R,332,GR,G332R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.057,T,l,0.91,0.14,,,,0.00271601,0,0.0926217,0.609717
5872,P16278,W,C,378,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,15936,120,ENSG00000170266,ENST00000307377,CCDS46785.1,GLB1,0.69,probably_damaging,1,deleterious,0,4.23452,22,P16278_W378C,W,C,378,WC,W378C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,0.00287281,0,0.0979689,0.921004
5886,P16278,R,W,38,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,129,3668,ENSG00000170266,ENST00000399402,CCDS43062.1,GLB1,0.06,probably_damaging,1,deleterious,0,5.02297,29.6,P16278_R38W,R,W,38,RW,R38W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.062,-5.295,3.233,0.59,T,a,1.67,2.18,0.619,,93.21,0.00216521,0,0.0738381,0.775909
5899,P40692,H,P,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,5979,53,ENSG00000076242,ENST00000455445,CCDS54563.1,MLH1,0.17,possibly_damaging,0.772,tolerated,0.15,4.67349,25.8,P40692_H88P,H,P,88,HP,H88P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,,,,,,,,,,,,0.0007784,0,0.026545,0.989935
5943,P13385,P,L,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0,0,0,,,,,,114,50,ENSG00000241186,ENST00000542931,CCDS54575.1,TDGF1,0.63,probably_damaging,0.97,tolerated,0.33,2.70138,14.99,P13385_P109L,P,L,109,PL,P109L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00828094,0,0.282397,0.929086
5986,P12268,L,F,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,1409,174,ENSG00000178035,ENST00000326739,CCDS2786.1,IMPDH2,0.51,probably_damaging,0.997,deleterious,0,4.2479,22.1,P12268_L263F,L,F,263,LF,L263F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.347,-3.299,1.952,,,,,,,,,0.000496789,0,0.0169415,0.905033
5989,P55268,C,R,321,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,2206,151,ENSG00000172037,ENST00000305544,CCDS2789.1,LAMB2,0.18,probably_damaging,0.999,deleterious,0,3.54743,18.1,P55268_C321R,C,R,321,CR,C321R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,,,,0.743173
6001,Q03154,E,D,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,978,127,ENSG00000243989,ENST00000404366,CCDS2844.1,ACY1,0.57,probably_damaging,0.95,deleterious,0.01,3.91389,19.91,Q03154_E233D,E,D,233,ED,E233D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.336,-2.785,1.449,,,,,,1.726,,50.74,0.00424748,0,0.144848,0.959918
6011,Q9UBX0,Q,H,6,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,38,1112,ENSG00000163666,ENST00000473921,,HESX1,0.04,benign,0.331,deleterious,0.02,1.34651,10.42,Q9UBX0_Q6H,Q,H,6,QH,Q6H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-1.807,-2.288,0.481,,,,,,31.385,31.385,88.65,0.00323739,0.00558659,0.110402,1.01701
6015,O75369,L,Q,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,68865,93510,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.07,probably_damaging,0.999,deleterious,0,4.25174,22.2,O75369_L171Q,L,Q,171,LQ,L171Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.208,-3.86,2.652,0.007,H,A,1.19,-0.7,,,,2.22e-05,0,0.00075701,0.611818
6016,O75369,L,R,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,68865,93510,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.07,probably_damaging,0.999,deleterious,0,4.16431,21.5,O75369_L171R,L,R,171,LR,L171R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.208,-3.668,2.46,0.007,H,A,1.75,-0.7,,,,2.22e-05,0,0.00075701,0.544407
6017,O75369,A,V,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,68871,93504,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.07,probably_damaging,0.997,deleterious,0,5.04974,30,O75369_A173V,A,V,173,AV,A173V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,0.029,H,A,0.44,-0.71,,,,2e-05,0,0.000681516,0.766985
6035,O75369,G,D,1612,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,4064,34633,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.62,probably_damaging,1,deleterious,0,5.34641,34,O75369_G1612D,G,D,1612,GD,G1612D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.000233457,0,0.00796137,0.808386
6132,P41180,E,K,604,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,29602,1524,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.56,probably_damaging,0.994,deleterious,0,4.83247,27.4,P41180_E604K,E,K,604,EK,E604K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.031,-3.439,2.408,,,,,,3.019,,30.06,0.000455892,0,0.0155469,0.851345
6135,P41180,R,X,648,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,29734,1392,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.6,,,,,5.40292,34,P41180_R648X,R,X,648,RX,R648X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000581969,0,0.0198463,0.977351
6148,P51149,K,N,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,12255,3,ENSG00000075785,ENST00000483906,,RAB7A,0.63,probably_damaging,0.949,deleterious,0,4.12998,21.3,P51149_K84N,K,N,84,KN,K84N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,,,,,,,,,,,,0.0023617,0,0.0805387,0.96617
6149,P51149,N,T,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,12266,9,ENSG00000075785,ENST00000483906,,RAB7A,0.66,probably_damaging,0.915,tolerated,0.21,3.50871,17.93,P51149_N88T,N,T,88,NT,N88T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,,,,,,,,,,,,0.00644055,0,0.219636,0.934754
6150,P51149,V,M,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,12268,11,ENSG00000075785,ENST00000483906,,RAB7A,0.66,probably_damaging,0.978,deleterious,0,4.26267,22.2,P51149_V89M,V,M,89,VM,V89M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00220032,0,0.0750355,0.987603
6163,P08100,P,R,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,251,6279,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.15,probably_damaging,0.999,deleterious,0,4.80516,27.2,P08100_P53R,P,R,53,PR,P53R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.115,-3.668,2.553,0.218,H,A,0.68,-0.7,,,,0.000518593,0,0.0176851,0.670144
6164,P08100,V,D,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,353,6177,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.25,probably_damaging,0.999,deleterious,0,4.52862,24.4,P08100_V87D,V,D,87,VD,V87D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.548,-2.139,0.591,,I,A,1.19,-0.87,27.816,27.816,78.45,0.00324485,0,0.110656,0.814215
6165,P08100,G,D,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,359,6171,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.26,probably_damaging,0.906,deleterious,0,3.84478,19.53,P08100_G89D,G,D,89,GD,G89D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.533,-3.623,2.09,0.161,I,A,0.46,-0.72,1.527,,93.68,0.00304165,0,0.103727,0.755952
6166,P08100,G,D,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,362,6168,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.26,probably_damaging,1,deleterious,0,5.15371,32,P08100_G90D,G,D,90,GD,G90D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.176,-3.349,2.173,0.011,I,a,0.46,-0.65,1.581,,51.44,0.000377984,0,0.01289,0.630504
6167,P08100,T,I,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,374,6156,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.27,probably_damaging,0.999,deleterious,0,4.04475,20.8,P08100_T94I,T,I,94,TI,T94I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.245,-3.296,2.051,,H,A,0.7,-0.74,,,,0.000894622,0,0.0305084,0.631502
6187,P08100,K,E,296,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,4082,2448,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.85,probably_damaging,0.999,deleterious,0.01,4.61991,25.3,P08100_K296E,K,E,296,KE,K296E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.265,-2.725,1.46,0.061,G,A,1.3,-0.75,,,,0.00117197,0,0.0399664,0.679735
6204,Q13515,R,W,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,0,0,0,,,,,,9,21163,ENSG00000170819,ENST00000302334,CCDS33859.1,BFSP2,0.69,probably_damaging,0.947,deleterious,0,3.56519,18.17,Q13515_R287W,R,W,287,RW,R287W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.337,-2.596,1.259,,,,,,41.997,41.997,84.58,0.00334109,0,0.113938,0.960136
6236,P58418,N,K,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,0,0,0,,,,,,114,31150,ENSG00000163646,ENST00000327047,CCDS3153.1,CLRN1,0.21,probably_damaging,0.998,deleterious,0,4.25603,22.2,P58418_N48K,N,K,48,NK,N48K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.162,-3.009,1.847,,,,,,,,,0.00266116,0,0.090751,0.87183
6337,Q13144,V,L,309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,194,36,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.43,benign,0.083,deleterious,0.01,3.29557,17.07,Q13144_V309L,V,L,309,VL,V309L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.332,-2.458,1.126,,,,,,15.039,,89.74,0.00188006,0,0.0641139,0.979459
6338,Q13144,C,F,310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,190,32,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.43,benign,0.228,deleterious,0.02,2.48688,14.28,Q13144_C310F,C,F,310,CF,C310F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-2.001,-4.047,2.046,,,,,,1.768,,84.74,0.00129364,0,0.0441159,0.89132
6341,Q13144,R,H,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,175,17,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.44,benign,0.012,tolerated,0.44,2.86182,15.53,Q13144_R315H,R,H,315,RH,R315H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.415,-4.07,2.655,,,,,,1.975,,64.49,0.0014494,0,0.0494274,0.865327
6349,Q13144,I,V,385,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,35,182,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.53,benign,0.05,deleterious,0.05,3.47902,17.8,Q13144_I385V,I,V,385,IV,I385V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.313,-2.181,0.868,,,,,,,,,0.00104265,0,0.0355566,0.881853
6410,P35913,W,R,528,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,3012,2272,ENSG00000133256,ENST00000429163,CCDS46993.1,PDE6B,0.92,probably_damaging,1,deleterious,0,4.13148,21.3,P35913_W528R,W,R,528,WR,W528R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.000913088,0,0.0311382,0.978382
6543,Q86XX4,S,X,1424,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.05,,,,,,,,,350234,38755,ENSG00000138759,ENST00000325942,CCDS54772.1,FRAS1,0.72,,,,,12.1998,46,Q86XX4_S1424X,S,X,1424,SX,S1424X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
6699,O14746,C,R,1015,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,27610,1673,ENSG00000164362,ENST00000310581,CCDS3861.2,TERT,0.9,probably_damaging,0.999,deleterious,0,2.26654,13.54,O14746_C1015R,C,R,1015,CR,C1015R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.073,-4.033,2.96,,,,,,,,,0.00254902,0,0.0869268,0.761892
6724,Q9HCJ1,M,T,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,19073,138,ENSG00000154122,ENST00000284268,CCDS3885.1,ANKH,0.1,probably_damaging,0.96,tolerated,0.38,3.34554,17.26,Q9HCJ1_M48T,M,T,48,MT,M48T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.71,-3.157,1.447,,,,,,,,,0.00105242,0,0.0358898,0.853525
6808,Q13216,E,X,13,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.13,,,,,,,,,80,27009,ENSG00000049167,ENST00000265038,CCDS3978.1,ERCC8,0.03,,,,,6.07862,37,Q13216_E13X,E,X,13,EX,E13X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.0017278,0,0.0589216,0.914073
6876,O76082,R,Q,399,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,1873,2851,ENSG00000197375,ENST00000245407,CCDS4154.1,SLC22A5,0.72,probably_damaging,1,deleterious,0,6.00886,37,O76082_R399Q,R,Q,399,RQ,R399Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.331,-3.447,2.116,,,,,,0.851,,46.14,0.000678431,0,0.0231359,0.898459
6898,Q9UH77,R,W,493,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,2916,3826,ENSG00000146021,ENST00000506491,,KLHL3,0.98,probably_damaging,1,deleterious,0,3.88958,19.77,Q9UH77_R493W,R,W,493,RW,R493W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00212194,0,0.0723626,0.969087
6915,Q9UH77,Q,R,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,32973,2661,ENSG00000146021,ENST00000506491,,KLHL3,0.45,probably_damaging,1,tolerated,0.57,3.32729,17.19,Q9UH77_Q227R,Q,R,227,QR,Q227R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,0.00178778,0,0.0609669,0.966161
6921,Q9UH77,A,E,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,11550,3711,ENSG00000146021,ENST00000309755,CCDS4192.1,KLHL3,0.13,probably_damaging,0.999,deleterious,0,5.13609,32,Q9UH77_A77E,A,E,77,AE,A77E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.307,-3.122,1.815,,,,,,,,,0.000211048,0,0.00719718,0.892053
6946,Q8TF17,Q,X,63,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.01,,,,,,,,,157,2333,ENSG00000169247,ENST00000502274,,SH3TC2,0.42,,,,,16.1434,50,Q8TF17_Q63X,Q,X,63,QX,Q63X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000527959,0,0.0180045,0.98231
6949,Q8TF17,N,I,881,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,4527,526,ENSG00000169247,ENST00000515425,CCDS4293.1,SH3TC2,0.68,probably_damaging,1,deleterious,0,3.40886,17.51,Q8TF17_N881I,N,I,881,NI,N881I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.111,-3.927,2.816,,,,,,0.578,,22.13,0.000230121,0,0.00784759,0.828444
6968,P17900,E,X,69,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.03,,,,,,,,,34,7048,ENSG00000196743,ENST00000523466,,GM2A,0.47,,,,,5.83586,36,P17900_E69X,E,X,69,EX,E69X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00942229,0,0.32132,0.916013
6975,P23415,Q,H,294,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,73413,1729,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.64,possibly_damaging,0.822,deleterious,0,4.56909,24.8,P23415_Q294H,Q,H,294,QH,Q294H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-1.699,-3.912,2.213,,,,,,,,,0.000937644,0,0.0319756,0.811548
7020,O75360,R,C,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,3211,797,ENSG00000175325,ENST00000308304,CCDS4430.1,PROP1,0.53,probably_damaging,0.999,deleterious,0,2.86568,15.55,O75360_R120C,R,C,120,RC,R120C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.00170044,0,0.0579884,0.704033
7021,O75360,F,I,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,3202,806,ENSG00000175325,ENST00000308304,CCDS4430.1,PROP1,0.52,probably_damaging,0.997,deleterious,0,3.78396,19.21,O75360_F117I,F,I,117,FI,F117I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,-1.149,-3.152,2.003,,,,,,,,,0.00206085,0,0.0702792,0.830687
7109,Q9NU63,H,D,438,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,4265,256,ENSG00000204644,ENST00000376883,,ZFP57,0.85,probably_damaging,0.997,deleterious,0,2.80625,15.35,Q9NU63_H438D,H,D,438,HD,H438D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,,,,,,,,,,,,,,,0.951458
7110,Q9NU63,H,N,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,3722,799,ENSG00000204644,ENST00000376883,,ZFP57,0.5,probably_damaging,0.996,deleterious,0,4.15392,21.5,Q9NU63_H257N,H,N,257,HN,H257N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,,,,,,,,,,,,,,,0.951808
7114,Q99519,P,S,316,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,2680,882,ENSG00000204386,ENST00000375631,CCDS4723.1,NEU1,0.76,probably_damaging,0.982,tolerated,0.12,4.28193,22.4,Q99519_P316S,P,S,316,PS,P316S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.966,-3.203,2.237,,,,,,,,,0.00380088,0,0.129618,0.804937
7130,O00294,R,W,482,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,4105,39,ENSG00000112041,ENST00000229771,CCDS4807.1,TULP1,0.89,probably_damaging,1,deleterious,0,3.91917,19.94,O00294_R482W,R,W,482,RW,R482W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.863,-5.322,4.459,0.175,.,A,1.67,-1.63,,,,0.00126088,0,0.0429987,0.534882
7135,Q9NZB8,R,Q,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,15285,3210,ENSG00000124615,ENST00000425303,,MOCS1,0.5,probably_damaging,1,deleterious,0,5.11072,32,Q9NZB8_R319Q,R,Q,319,RQ,R319Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.000253675,0,0.00865084,0.857272
7148,P23942,P,L,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.12,,,,,,,,,18029,7944,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.62,probably_damaging,0.996,tolerated,0.11,4.26566,22.3,P23942_P216L,P,L,216,PL,P216L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.404,-3.009,1.605,,,,,,9.058,,56.94,0.00381605,0,0.130135,0.931491
7155,P23942,R,W,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,664,25309,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.41,probably_damaging,0.967,deleterious,0,3.7242,18.91,P23942_R142W,R,W,142,RW,R142W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.624,-5.188,3.564,,,,,,0.322,,68.79,0.00303185,0,0.103392,0.841116
7157,P23942,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.56,0.07,,,,,,,,,242,25731,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0,probably_damaging,0.992,deleterious,0,3.18841,16.67,P23942_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.406,-3.239,1.833,,,,,,,,,0.00342397,0.0057971,0.116764,0.882763
7251,P17302,G,R,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,11216,2820,ENSG00000152661,ENST00000282561,CCDS5123.1,GJA1,0.05,probably_damaging,1,deleterious,0.02,4.66392,25.7,P17302_G21R,G,R,21,GR,G21R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.192,-3.813,2.621,,,,,,0.642,,35.08,0.00307952,0,0.105018,0.807368
7252,P17302,G,E,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,11220,2816,ENSG00000152661,ENST00000282561,CCDS5123.1,GJA1,0.06,probably_damaging,1,deleterious,0,5.2957,34,P17302_G22E,G,E,22,GE,G22E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,,,,,,,,,0.000437208,0,0.0149097,0.806888
7327,O60260,A,E,82,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,0.002,0,0.003,0.001,0.002,,,0.003,464977,717580,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.19,benign,0.007,tolerated,0.55,0.199787,5.077,O60260_A82E,A,E,82,AE,A82E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-2.195,-2.667,0.472,,,,,,22.296,22.296,87.96,0.00237978,0.00261097,0.0811555,0.998681
7400,P10071,E,X,688,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.07,,,,,,,,,5545,63,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.44,,,,,7.95092,40,P10071_E688X,E,X,688,EX,E688X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000504386,0,0.0172006,0.980139
7423,P35557,Y,C,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,9478,4666,ENSG00000106633,ENST00000437084,,GCK,0.44,probably_damaging,0.999,deleterious,0.03,4.27474,22.3,P35557_Y197C,Y,C,197,YC,Y197C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00201153,0,0.0685974,0.940838
7424,P35557,M,K,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,9466,4678,ENSG00000106633,ENST00000437084,,GCK,0.43,probably_damaging,0.999,deleterious,0,5.10753,32,P35557_M193K,M,K,193,MK,M193K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,,,,,,,,,,,,0.00150273,0,0.0512461,0.910777
7426,P35557,S,P,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,8228,5916,ENSG00000106633,ENST00000345378,CCDS5480.1,GCK,0.28,probably_damaging,0.997,deleterious,0.02,4.75951,26.7,P35557_S132P,S,P,132,SP,S132P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.0016333,0,0.0556989,0.914249
7449,P08236,A,V,354,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,76,90,ENSG00000169919,ENST00000304895,CCDS5530.1,GUSB,0.54,possibly_damaging,0.499,deleterious,0.01,3.19579,16.7,P08236_A354V,A,V,354,AV,A354V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.559,-3.246,1.687,0.049,.,B,0.44,-1.23,3.355,,81.41,0.00262026,0,0.0893562,0.705655
7668,P20839,N,K,250,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,566,16,ENSG00000106348,ENST00000419067,CCDS47699.1,IMPDH1,0.44,probably_damaging,0.926,deleterious,0.01,3.9821,20.4,P20839_N250K,N,K,250,NK,N250K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,,,,0.947543
7670,P03999,P,S,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.12,,,,,,,,,2005,1295,ENSG00000128617,ENST00000249389,CCDS5806.1,OPN1SW,0.76,probably_damaging,1,deleterious,0,4.81183,27.2,P03999_P264S,P,S,264,PS,P264S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.966,-3.203,2.237,,,,,,,,,0.00271427,0,0.0925621,0.804937
7702,P35523,V,A,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,9301,121,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.29,possibly_damaging,0.563,deleterious,0.03,3.46329,17.74,P35523_V286A,V,A,286,VA,V286A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.201,-2.63,1.429,,,,,,,,,0.000611809,0,0.020864,0.921703
7703,P35523,E,K,291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,9315,107,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.29,probably_damaging,1,deleterious,0,5.22677,33,P35523_E291K,E,K,291,EK,E291K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,0.000323499,0,0.011032,0.912142
7714,P35523,Q,R,552,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,25875,10083,ENSG00000188037,ENST00000343257,CCDS5881.1,CLCN1,0.56,probably_damaging,0.999,deleterious,0,4.65023,25.6,P35523_Q552R,Q,R,552,QR,Q552R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.507,-3.249,1.742,,,,,,1.29,,52.73,0.00027567,0,0.0094009,0.946049
7718,O60393,R,X,92,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.07,,,,,,,,,1165,842,ENSG00000106410,ENST00000555556,,NOBOX,0.55,,,,,4.76763,26.8,O60393_R92X,R,X,92,RX,R92X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000616228,0,0.0210146,0.977351
7760,Q9UBY8,R,G,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,7321,171,ENSG00000182372,ENST00000331222,CCDS5956.1,CLN8,0.08,possibly_damaging,0.847,deleterious,0.01,3.29322,17.06,Q9UBY8_R24G,R,G,24,RG,R24G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.337,-3.332,1.995,,,,,,2.206,,58.04,0.00291888,0,0.0995398,0.853193
7761,Q9UBY8,A,P,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,7339,153,ENSG00000182372,ENST00000331222,CCDS5956.1,CLN8,0.1,possibly_damaging,0.674,tolerated,0.07,2.61212,14.69,Q9UBY8_A30P,A,P,30,AP,A30P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.415,-3.739,2.324,,,,,,2.515,,86.36,0.00369132,0,0.125882,0.880001
7762,Q9UBY8,R,C,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,6732,451,ENSG00000182372,ENST00000331222,CCDS5956.1,CLN8,0.71,probably_damaging,1,deleterious,0,4.84371,27.6,Q9UBY8_R204C,R,C,204,RC,R204C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.225,-4.988,3.763,,,,,,0.641,,73.08,0.00323286,0,0.110247,0.820047
7816,P11686,A,D,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,379,82,ENSG00000168484,ENST00000521315,CCDS55209.1,SFTPC,0.61,benign,0.201,deleterious,0.05,3.80081,19.3,P11686_A116D,A,D,116,AD,A116D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.225,-3.383,2.158,,,,,,2.263,,46.19,0.00658228,0,0.224469,0.779034
7825,P34913,R,Q,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,0.102,0.094,0.107,0.14,0.26,0.1,0.1,0.1,885,6140,ENSG00000120915,ENST00000518379,,EPHX2,0.49,probably_damaging,0.999,deleterious,0.02,5.20156,33,P34913_R255Q,R,Q,255,RQ,R255Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
7852,P11362,C,R,290,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,369,2269,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.4,probably_damaging,0.998,deleterious,0.02,4.73366,26.4,P11362_C290R,C,R,290,CR,C290R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.000398785,0,0.0135994,0.968092
7879,Q9P2D1,Y,X,1806,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.09,,,,,,,,,232,2134,ENSG00000171316,ENST00000307121,,CHD7,0.6,,,,,15.5184,49,Q9P2D1_Y1806X,Y,X,1806,YX,Y1806X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
7892,Q99502,S,P,453,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,83479,135,ENSG00000104313,ENST00000388741,,EYA1,0.81,benign,0.285,tolerated,0.07,2.51003,14.35,Q99502_S453P,S,P,453,SP,S453P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,9.17e-05,0,0.00312713,0.99986
8002,Q9NPC2,G,R,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,84365,671,ENSG00000169427,ENST00000520439,CCDS6377.1,KCNK9,0.63,probably_damaging,0.911,deleterious,0.03,4.42567,23.5,Q9NPC2_G236R,G,R,236,GR,G236R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.00249498,0,0.085084,0.765034
8017,P19099,Q,X,272,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,3440,2103,ENSG00000179142,ENST00000323110,CCDS6393.1,CYP11B2,0.54,,,,,4.16372,21.5,P19099_Q272X,Q,X,272,QX,Q272X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00278172,0,0.0948623,0.955443
8032,P23378,A,V,802,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,0,0,0,,,,,,1490,13,ENSG00000178445,ENST00000321612,CCDS34987.1,GLDC,0.79,possibly_damaging,0.818,deleterious,0,4.04006,20.7,P23378_A802V,A,V,802,AV,A802V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.315,-3.018,1.703,,,,,,3.633,,88.14,0.000764158,0,0.0260594,0.968796
8050,P07902,R,X,95,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,47,3,ENSG00000213930,ENST00000450095,,GALT,0.35,,,,,4.50331,24.2,P07902_R95X,R,X,95,RX,R95X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000602265,0,0.0205385,0.977351
8061,O15287,E,X,105,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.01,,,,,,,,,309,265,ENSG00000221829,ENST00000448890,,FANCG,0.49,,,,,4.95314,28.8,O15287_E105X,E,X,105,EX,E105X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8064,P07951,R,W,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,15,778,ENSG00000198467,ENST00000360958,CCDS6587.1,TPM2,0.47,possibly_damaging,0.708,deleterious,0,3.56615,18.18,P07951_R133W,R,W,133,RW,R133W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.746,-2.084,0.338,,,,,0,42.486,42.486,85.56,0.000748138,0,0.025513,0.9194
8087,Q9UBQ7,E,K,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.12,,,,,,,,,3862,64,ENSG00000137106,ENST00000377824,,GRHPR,0.29,probably_damaging,1,deleterious,0,4.72806,26.3,Q9UBQ7_E113K,E,K,113,EK,E113K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,0.011,H,A,1.3,-1.1,,,,0.00480017,0,0.163696,0.614545
8095,Q9UBQ7,N,D,312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,7734,37,ENSG00000137106,ENST00000318158,CCDS6609.1,GRHPR,0.95,probably_damaging,1,deleterious,0,5.12121,32,Q9UBQ7_N312D,N,D,312,ND,N312D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.162,-2.796,1.634,,H,A,0.14,-1.57,,,,0.035665,0,1.21625,0.74202
8137,Q16620,Y,C,706,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,285114,66814,ENSG00000148053,ENST00000376213,CCDS35050.1,NTRK2,0.86,probably_damaging,1,deleterious,0,4.38335,23.2,Q16620_Y706C,Y,C,706,YC,Y706C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.282,-4.598,3.316,,,,,,,,,0.00021601,0,0.00736637,0.77675
8151,P09467,P,R,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,35961,406,ENSG00000165140,ENST00000415431,CCDS6712.1,FBP1,0.84,probably_damaging,0.998,deleterious,0,4.85296,27.7,P09467_P284R,P,R,284,PR,P284R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.115,-3.668,2.553,,H,A,0.68,-0.67,,,,0.00264694,0,0.0902661,0.591618
8154,P09467,G,S,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,29510,3183,ENSG00000165140,ENST00000415431,CCDS6712.1,FBP1,0.49,possibly_damaging,0.855,deleterious,0,4.46031,23.8,P09467_G164S,G,S,164,GS,G164S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.164,-2.972,1.808,,E,g,0.02,-0.87,3.805,,72.78,0.000898099,0,0.030627,0.773199
8196,P05062,A,D,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,0.001,0,0.001,0.001,,0.003,,0.001,8258,1937,ENSG00000136872,ENST00000374855,CCDS6756.1,ALDOB,0.48,probably_damaging,0.996,deleterious,0,5.44901,35,P05062_A175D,A,D,175,AD,A175D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.088,-3.471,2.383,,H,A,0.75,-0.57,,,,0.000921402,0,0.0314217,0.591246
8198,P05062,W,R,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,8176,2019,ENSG00000136872,ENST00000374855,CCDS6756.1,ALDOB,0.41,probably_damaging,1,deleterious,0,4.75322,26.6,P05062_W148R,W,R,148,WR,W148R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.198,-3.935,2.737,0.005,E,B,1.67,-0.41,,,,0.000798868,0,0.027243,0.495006
8207,O95477,D,Y,1099,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,109408,37828,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.49,probably_damaging,1,deleterious,0,5.032,29.7,O95477_D1099Y,D,Y,1099,DY,D1099Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.139,-4.123,2.984,,,,,,,,,9.46e-05,0,0.00322595,0.794386
8208,O95477,A,V,937,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,105724,41512,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.41,probably_damaging,0.983,deleterious,0,5.38038,34,O95477_A937V,A,V,937,AV,A937V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,0.00011317,0,0.00385931,0.918326
8209,O95477,N,S,935,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,105718,41518,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.41,possibly_damaging,0.837,deleterious,0.03,5.00291,29.4,O95477_N935S,N,S,935,NS,N935S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.26,-2.671,1.411,,,,,,,,,8.77e-05,0,0.0029922,0.932593
8210,O95477,N,H,935,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,105717,41519,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.41,probably_damaging,0.997,deleterious,0,4.80122,27.1,O95477_N935H,N,H,935,NH,N935H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,-1.26,-3.741,2.481,,,,,,,,,8.77e-05,0,0.0029922,0.830413
8261,P17813,Y,X,277,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.01,,,,,,,,,305,830,ENSG00000106991,ENST00000545345,CCDS48029.1,ENG,0.42,,,,,7.3468,39,P17813_Y277X,Y,X,277,YX,Y277X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000797443,0,0.0271944,0.970188
8284,P00966,S,N,180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,4403,637,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.44,benign,0.167,deleterious,0,1.61098,11.34,P00966_S180N,S,N,180,SN,S180N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.674,-3.271,1.597,0.44,.,B,0.34,1.18,1.23,,83.98,0.000644823,0,0.0219898,0.974227
8304,Q9Y6A1,Q,H,416,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,246,54,ENSG00000130714,ENST00000419118,,POMT1,0.73,probably_damaging,0.918,deleterious,0,2.6251,14.74,Q9Y6A1_Q416H,Q,H,416,QH,Q416H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,,,,,,,,,,,,,,,0.959281
8362,P51690,I,S,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.11,,,,,,,,,5925,72,ENSG00000157399,ENST00000545496,,ARSE,0.11,probably_damaging,0.951,deleterious,0.03,2.35529,13.83,P51690_I65S,I,S,65,IS,I65S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,,,,,,,,,,,,0.00188769,0,0.0643741,0.943003
8407,P46019,T,I,1114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.12,,,,,,,,,843,65,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.9,probably_damaging,0.997,deleterious,0,4.21044,21.9,P46019_T1114I,T,I,1114,TI,T1114I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-0.787,-3.658,2.871,,,,,,2.669,,88.66,0.00107099,0,0.036523,0.861379
8874,Q15125,L,P,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,,,,,,,,,1955,3430,ENSG00000147155,ENST00000446158,,EBP,0.11,probably_damaging,0.934,deleterious,0,2.24819,13.47,Q15125_L18P,L,P,18,LP,L18P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.33,-2.36,1.03,,,,,,13.766,13.766,60.87,0.00556266,0,0.189698,0.924889
8881,Q15125,W,X,196,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.05,,,,,,,,,1502,89,ENSG00000147155,ENST00000495186,CCDS14300.1,EBP,0.85,,,,,8.91295,41,Q15125_W196X,W,X,196,WX,W196X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00323097,0,0.110183,0.931205
8891,P42768,L,P,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,52,133,ENSG00000015285,ENST00000376701,CCDS14303.1,WAS,0.54,probably_damaging,1,deleterious,0,3.39726,17.47,P42768_L270P,L,P,270,LP,L270P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.178,-4.025,2.847,,,,,,0.872,,78.69,0.00227589,0,0.0776124,0.843193
8901,O60840,I,T,691,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,568,318,ENSG00000102001,ENST00000376251,,CACNA1F,0.36,benign,0.047,deleterious,0,3.02649,16.1,O60840_I691T,I,T,691,IT,I691T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,,,,,,,,,,,,6.42e-05,0,0.00218923,1.0014
8905,Q9BZS1,F,C,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,6804,364,ENSG00000049768,ENST00000557224,,FOXP3,0.74,probably_damaging,0.999,deleterious,0,3.68233,18.71,Q9BZS1_F336C,F,C,336,FC,F336C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,,,,,,,,,,,,0.00230178,0,0.0784956,0.93997
8931,Q14683,R,H,496,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.08,,,,,,,,,13553,4320,ENSG00000072501,ENST00000322213,CCDS14352.1,SMC1A,0.4,probably_damaging,0.936,deleterious,0,5.31006,34,Q14683_R496H,R,H,496,RH,R496H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.582,-3.912,2.33,,,,,,,,,0.000941918,0,0.0321213,0.76829
8932,Q14683,E,A,493,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,13544,4329,ENSG00000072501,ENST00000322213,CCDS14352.1,SMC1A,0.4,probably_damaging,0.995,deleterious,0,4.52684,24.4,Q14683_E493A,E,A,493,EA,E493A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-1.404,-2.759,1.355,,,,,,,,,0.000687547,0,0.0234468,0.907318
8940,Q7Z6Z7,R,H,2981,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,51951,19276,ENSG00000086758,ENST00000342160,CCDS35301.1,HUWE1,0.68,probably_damaging,0.993,,,4.00289,20.5,Q7Z6Z7_R2981H,R,H,2981,RH,R2981H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.582,-3.912,2.33,,,,,,,,,,,,0.787101
8945,P98174,R,H,522,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,30645,20068,ENSG00000102302,ENST00000375135,CCDS14359.1,FGD1,0.54,probably_damaging,0.977,deleterious,0.02,5.06599,31,P98174_R522H,R,H,522,RH,R522H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,,,,0.778646
8967,Q5JTC6,R,X,353,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.03,,,,,,,,,1057,6113,ENSG00000184675,ENST00000374869,,FAM123B,0.44,,,,,7.32014,39,Q5JTC6_R353X,R,X,353,RX,R353X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8987,P10275,R,L,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.05,0,0,0,0,,,,,148595,6453,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.5,benign,0.081,deleterious,0,3.93224,20.1,P10275_R195L,R,L,195,RL,R195L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.000711347,0,0.0242584,0.980977
8988,P10275,V,M,199,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,148606,6442,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.51,benign,0.131,deleterious,0.03,3.01002,16.04,P10275_V199M,V,M,199,VM,V199M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00116339,0,0.0396741,0.935731
8989,P10275,S,C,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,148637,6411,ENSG00000169083,ENST00000396043,CCDS43965.1,AR,0.54,possibly_damaging,0.72,deleterious,0,4.5205,24.3,P10275_S209C,S,C,209,SC,S209C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.00120724,0,0.0411693,0.913364
9013,P98172,P,L,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,9652,3499,ENSG00000090776,ENST00000204961,CCDS14391.1,EFNB1,0.16,probably_damaging,1,deleterious,0,4.08583,21,P98172_P54L,P,L,54,PL,P54L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.341,-3.221,1.88,,,,,,2.095,,32.08,,,,0.830088
9052,P08034,S,C,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.07,,,,,,,,,755,1,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.3,probably_damaging,0.995,deleterious,0,2.8768,15.58,P08034_S85C,S,C,85,SC,S85C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.474,-4.471,2.997,0.176,H,A,0.73,-0.43,1.81,,84.45,0.00356462,0,0.121561,0.738064
9065,P36021,S,F,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,1193,111922,ENSG00000147100,ENST00000276033,CCDS14426.1,SLC16A2,0.32,probably_damaging,0.991,deleterious,0,4.19464,21.7,P36021_S194F,S,F,194,SF,S194F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,,,,0.933289
9134,O60220,Q,X,38,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,197,895,ENSG00000126953,ENST00000372902,CCDS14481.1,TIMM8A,0.39,,,,,9.37928,42,O60220_Q38X,Q,X,38,QX,Q38X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
9151,Q06187,Y,X,485,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.05,,,,,,,,,642,349,ENSG00000010671,ENST00000308731,CCDS14482.1,BTK,0.74,,,,,7.31914,39,Q06187_Y485X,Y,X,485,YX,Y485X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00145129,0,0.0494919,0.8948
9200,P06280,W,X,44,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.04,,,,,,,,,24,4393,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.1,,,,,6.85048,38,P06280_W44X,W,X,44,WX,W44X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00220564,0,0.0752167,0.940601
9304,P29400,G,R,426,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,8676,36102,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.25,,,deleterious,0,3.8795,19.72,P29400_G426R,G,R,426,GR,G426R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,2.44e-05,0,0.000830917,0.793499
9331,P29400,G,C,621,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,16291,28487,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.37,,,deleterious,0,3.71341,18.86,P29400_G621C,G,C,621,GC,G621C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.921,-4.823,3.902,,,,,,,,,0.000104581,0,0.00356643,0.798691
9365,P29400,G,R,872,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,37871,6907,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.52,,,deleterious,0,3.68283,18.71,P29400_G872R,G,R,872,GR,G872R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,2.46e-05,0,0.000840288,0.793499
9418,P29400,G,E,1261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.04,,,,,,,,,228614,29046,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.75,,,deleterious,0,4.09919,21.1,P29400_G1261E,G,E,1261,GE,G1261E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,8.88e-06,0,0.000302803,0.811426
9424,P29400,G,W,1427,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,4216,1408,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.84,probably_damaging,1,deleterious,0,4.75899,26.7,P29400_G1427W,G,W,1427,GW,G1427W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-0.657,-5.056,4.399,,,,,,,,,0.00179021,0,0.0610498,0.727391
9470,O15239,G,R,8,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,105,1399,ENSG00000125356,ENST00000371437,CCDS14590.1,NDUFA1,0.11,benign,0.008,tolerated,0.05,2.31548,13.7,O15239_G8R,G,R,8,GR,G8R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.0249297,0,0.850155,0.758335
9568,O60481,K,E,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.19,,,,,,,,,249,942,ENSG00000156925,ENST00000287538,CCDS14663.1,ZIC3,0.87,probably_damaging,0.998,deleterious,0,5.1805,32,O60481_K405E,K,E,405,KE,K405E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.265,-2.725,1.46,0.741,H,A,1.3,-1.21,,,,0.00228737,0,0.0780042,0.701319
9641,P22304,E,X,274,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.56,0.07,,,,,,,,,1862,922,ENSG00000010404,ENST00000370443,,IDS,0.88,,,,,7.06663,38,P22304_E274X,E,X,274,EX,E274X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00344672,0,0.11754,0.953272
9654,P22304,A,T,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.09,,,,,,,,,89,6,ENSG00000010404,ENST00000370443,,IDS,0.27,possibly_damaging,0.677,deleterious,0.03,4.85004,27.6,P22304_A85T,A,T,85,AT,A85T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.242,-3.146,1.904,,,,,,1.694,,57.45,0.00355269,0,0.121154,0.938377
9759,P31150,L,P,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.03,,,,,,,,,968,26,ENSG00000203879,ENST00000447750,CCDS35452.1,GDI1,0.21,possibly_damaging,0.591,deleterious,0.01,4.61149,25.2,P31150_L92P,L,P,92,LP,L92P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,0.73,H,A,1.07,-0.46,,,,0.00378171,0,0.128964,0.659828
9806,O60832,T,I,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.56,0.01,,,,,,,,,330,458,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.79,possibly_damaging,0.675,deleterious,0,4.30752,22.6,O60832_T408I,T,I,408,TI,T408I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.398,-3.441,2.043,1.259,.,?,0.7,1.84,2.629,,87.35,0.00270902,0,0.0923832,0.835676
38,Q9HC10,R,C,82,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.57,0.05,0.368,0.139,0.485,0.28,0.1,0.48,0.09,0.45,39586,61889,ENSG00000115155,ENST00000403946,,OTOF,0.04,benign,0.001,tolerated,0.21,1.43359,10.73,Q9HC10_R82C,R,C,82,RC,R82C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.289,-2.78,0.491,0.739,E,B,1.66,-0.18,43.03,43.03,87.78,,,,0.918153
52,Q9H251,S,N,13,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.57,0.03,0.25,0.23,0.26,0.27,0.28,0.3,0.25,0.26,37,32362,ENSG00000107736,ENST00000442677,,CDH23,0.02,benign,0.001,tolerated,0.83,0.49666,6.694,Q9H251_S13N,S,N,13,SN,S13N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,,,,0.957829
54,Q9H251,V,I,1678,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.57,0.08,0.141,0.039,0.193,0.15,0.14,0.14,0.02,0.24,380920,38040,ENSG00000107736,ENST00000224721,,CDH23,0.5,benign,0.004,tolerated,0.23,1.54238,11.11,Q9H251_V1678I,V,I,1678,VI,V1678I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,,,,0.959636
165,P57727,G,S,195,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.57,0.07,0.131,0.156,0.118,0.08,,0.1,0.12,0.11,601,6642,ENSG00000160183,ENST00000380399,,TMPRSS3,0.36,benign,0.002,tolerated,1,-0.445197,1.934,P57727_G195S,G,S,195,GS,G195S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00311746,0,0.123289,0.96591
231,P21817,A,V,4901,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.57,0.16,0,0,0,,,,,,151313,2552,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,3.32071,17.17,P21817_A4901V,A,V,4901,AV,A4901V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,,,,0.954618
238,P21817,G,E,215,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.57,0.05,,,,,,,,,12784,141081,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.04,probably_damaging,0.972,,,3.54945,18.1,P21817_G215E,G,E,215,GE,G215E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.026,-3.804,2.778,,,,,,0.407,,13.14,,,,0.766111
240,P21817,G,D,4633,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.57,0.05,,,,,,,,,138485,15380,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.92,,,,,3.19417,16.69,P21817_G4633D,G,D,4633,GD,G4633D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,,,,0.948182
30,Q13148,N,K,229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,320,415,ENSG00000120948,ENST00000439080,,TARDBP,0.77,benign,0.068,tolerated,0.08,0.976272,8.985,Q13148_N229K,N,K,229,NK,N229K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.00069516,0,0.0237064,0.985913
89,Q9BXM7,A,D,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,26,13213,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.37,probably_damaging,0.991,deleterious,0,4.95111,28.8,Q9BXM7_A217D,A,D,217,AD,A217D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.013,-3.511,2.498,,,,,,,,,0.000968036,0,0.033012,0.738971
127,Q14376,D,G,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,954,40,ENSG00000117308,ENST00000418277,,GALE,0.17,possibly_damaging,0.436,tolerated,0.05,3.63384,18.48,Q14376_D39G,D,G,39,DG,D39G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00431651,0.00970874,0.147202,0.949452
128,Q14376,V,M,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,926,68,ENSG00000117308,ENST00000418277,,GALE,0.13,possibly_damaging,0.893,deleterious,0,5.14215,32,Q14376_V30M,V,M,30,VM,V30M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.304,-3.765,2.461,,E,B,0.11,-0.33,,,,0.0039902,0,0.136074,0.647713
158,Q9NTQ9,F,Y,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,2079,394,ENSG00000189433,ENST00000339480,CCDS383.1,GJB4,0.71,probably_damaging,0.998,deleterious,0,5.20775,33,Q9NTQ9_F189Y,F,Y,189,FY,F189Y,Hydrophobic,Hydrophobic,3.32,5.66,2.34,165,181,16,189.9,193.6,3.7,22,-1.158,-3.075,1.917,0.325,H,A,0.37,-1,0.857,,42.11,0.0017229,0,0.0587543,0.711626
188,Q32P28,Y,X,552,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.11,,,,,,,,,4687,349,ENSG00000117385,ENST00000397054,CCDS53307.1,LEPRE1,0.79,,,,,7.06795,38,Q32P28_Y552X,Y,X,552,YX,Y552X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
200,P11166,T,M,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,1828,50,ENSG00000117394,ENST00000439722,,SLC2A1,0.8,probably_damaging,0.999,deleterious,0,4.57938,24.9,P11166_T200M,T,M,200,TM,T200M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.000635925,0,0.0216863,0.993053
211,P11166,S,F,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,2,805,ENSG00000117394,ENST00000372500,,SLC2A1,0.28,possibly_damaging,0.727,deleterious,0,4.02314,20.6,P11166_S66F,S,F,66,SF,S66F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.348,-3.803,2.455,,,,,,,,,0.00118554,0,0.0404295,0.725797
217,P40238,P,T,275,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,2247,9442,ENSG00000117400,ENST00000413998,,MPL,0.5,probably_damaging,0.998,deleterious,0.03,3.90882,19.88,P40238_P275T,P,T,275,PT,P275T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-0.966,-3.239,2.273,,,,,,,,,0.000806919,0,0.0275176,0.836329
233,P06132,N,K,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,429,151,ENSG00000126088,ENST00000246337,CCDS518.1,UROD,0.83,probably_damaging,0.98,deleterious,0,4.06289,20.9,P06132_N304K,N,K,304,NK,N304K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.162,-3.009,1.847,0.056,E,a,1.73,-0.77,,,,0.00159335,0,0.0543364,0.626614
234,P06132,Y,C,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,449,171,ENSG00000126088,ENST00000246337,CCDS518.1,UROD,0.85,probably_damaging,0.999,deleterious,0,4.16996,21.6,P06132_Y311C,Y,C,311,YC,Y311C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,0.586,G,A,0.25,-0.52,,,,0.00410874,0,0.140117,0.626648
236,P06132,R,H,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,842,4,ENSG00000126088,ENST00000246337,CCDS518.1,UROD,0.9,possibly_damaging,0.849,tolerated,0.11,4.5143,24.3,P06132_R332H,R,H,332,RH,R332H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.781,-4.38,2.599,0.274,S,l,1.03,0.67,0.905,,93.19,0.00543293,0,0.185274,0.768263
243,Q8WZA1,P,R,493,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,183,543,ENSG00000085998,ENST00000371992,,POMGNT1,0.66,probably_damaging,1,deleterious,0,5.08109,31,Q8WZA1_P493R,P,R,493,PR,P493R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.115,-3.668,2.553,,,,,,,,,0.000830973,0,0.0283379,0.806888
314,P78363,A,V,1028,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,77690,50606,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.45,probably_damaging,0.957,deleterious,0,5.67637,36,P78363_A1028V,A,V,1028,AV,A1028V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.34,-3.143,1.803,,,,,,2.856,,69.29,,,,0.894074
416,P04062,S,P,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,518,22,ENSG00000177628,ENST00000536770,,GBA,0.29,benign,0.013,tolerated,0.17,1.14358,9.659,P04062_S122P,S,P,122,SP,S122P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.00142708,0,0.0486664,0.914249
464,P78508,R,C,297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,652,1173,ENSG00000177807,ENST00000368089,CCDS1193.1,KCNJ10,0.78,probably_damaging,1,deleterious,0,4.24975,22.1,P78508_R297C,R,C,297,RC,R297C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.00120451,0,0.0410761,0.695696
470,P78508,G,R,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,9,1833,ENSG00000177807,ENST00000368089,CCDS1193.1,KCNJ10,0.2,probably_damaging,0.961,deleterious,0.02,2.99165,15.98,P78508_G77R,G,R,77,GR,G77R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.469,-3.767,2.298,,,,,,1.67,,51.98,0.00258559,0,0.088174,0.833121
482,P50993,M,T,731,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,7838,1693,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.72,probably_damaging,0.991,deleterious,0,3.20355,16.73,P50993_M731T,M,T,731,MT,M731T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.998,-3.103,1.105,,E,B,0.77,-0.55,,,,0.00025461,0,0.00868273,0.701985
492,O75306,R,Q,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,47,185,ENSG00000158864,ENST00000476409,,NDUFS2,0.56,probably_damaging,0.998,deleterious,0,5.41248,34,O75306_R130Q,R,Q,130,RQ,R130Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00354257,0,0.120809,0.968556
493,O75306,P,Q,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,50,188,ENSG00000158864,ENST00000476409,,NDUFS2,0.57,probably_damaging,0.994,deleterious,0,4.75677,26.6,O75306_P131Q,P,Q,131,PQ,P131Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,,,,,,,,,,,,0.000618746,0,0.0211005,0.994393
552,P31513,R,W,492,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,0,0,0,,,,,,26411,141,ENSG00000007933,ENST00000367755,CCDS1292.1,FMO3,0.92,probably_damaging,1,deleterious,0,3.6743,18.67,P31513_R492W,R,W,492,RW,R492W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.234,-5.266,4.032,,,,,,0.093,,25.38,0.00140842,0,0.04803,0.770265
614,P15104,R,C,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.16,,,,,,,,,1434,91,ENSG00000135821,ENST00000311223,CCDS1344.1,GLUL,0.91,possibly_damaging,0.615,deleterious,0.03,4.86158,27.8,P15104_R341C,R,C,341,RC,R341C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.746,-2.168,0.422,,.,A,1.66,-0.17,33.947,33.947,70.24,0.0065942,0,0.224876,0.7631
807,P23771,W,R,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.11,,,,,,,,,5638,10028,ENSG00000107485,ENST00000346208,CCDS7083.1,GATA3,0.62,probably_damaging,1,deleterious,0,4.75702,26.6,P23771_W274R,W,R,274,WR,W274R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.301,-3.893,2.592,,,,,,,,,0.00147646,0,0.0503505,0.72103
917,P07602,Q,X,430,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.07,,,,,,,,,256,225,ENSG00000197746,ENST00000373120,,PSAP,0.77,,,,,4.64914,25.5,P07602_Q430X,Q,X,430,QX,Q430X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00320642,0,0.109345,0.955443
937,Q00266,G,R,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,601,1664,ENSG00000151224,ENST00000372213,CCDS7365.1,MAT1A,0.85,probably_damaging,0.998,deleterious,0,5.27464,33,Q00266_G336R,G,R,336,GR,G336R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.724,T,l,0.91,-0.88,,,,0.00244487,0,0.0833749,0.572445
971,O95340,S,X,479,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.08,,,,,,,,,82638,2445,ENSG00000198682,ENST00000427144,,PAPSS2,0.78,,,,,5.79291,36,O95340_S479X,S,X,479,SX,S479X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
1032,Q96RR1,A,T,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.11,,,,,,,,,1136,723,ENSG00000107815,ENST00000311916,CCDS7506.1,C10orf2,0.46,benign,0.408,deleterious,0.01,3.70404,18.81,Q96RR1_A318T,A,T,318,AT,A318T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.34,-2.978,1.638,,,,,,5.007,,60.96,0.00211475,0,0.0721172,0.949808
1047,P05093,W,R,406,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,169,587,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.8,probably_damaging,0.999,deleterious,0,3.02024,16.08,P05093_W406R,W,R,406,WR,W406R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.002,-4.033,3.031,,,,,,,,,0.00123691,0,0.0421812,0.71202
1052,P05093,P,T,342,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,96,850,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.67,possibly_damaging,0.85,deleterious,0.01,4.37089,23.1,P05093_P342T,P,T,342,PT,P342T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-0.879,-3.296,2.417,,,,,,,,,0.00169419,0,0.0577754,0.758211
1055,P05093,D,V,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,502,827,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.23,probably_damaging,0.995,deleterious,0,3.71028,18.84,P05093_D116V,D,V,116,DV,D116V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.269,-3.653,2.384,,,,,,1.955,,49.61,0.00270458,0,0.0922318,0.840615
1056,P05093,F,V,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,509,834,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.22,possibly_damaging,0.885,deleterious,0,5.0473,29.9,P05093_F114V,F,V,114,FV,F114V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.035,-3.179,2.144,,,,,,,,,0.0025484,0,0.0869057,0.831426
1058,P05093,R,Q,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,340,937,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.19,probably_damaging,1,deleterious,0,4.78682,27,P05093_R96Q,R,Q,96,RQ,R96Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.064,-3.324,2.26,,,,,,,,,0.000451342,0,0.0153917,0.828916
1094,P21802,P,R,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,11155,2826,ENSG00000066468,ENST00000336553,,FGFR2,0.25,benign,0.101,deleterious,0.01,3.66296,18.62,P21802_P164R,P,R,164,PR,P164R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,0.000333641,0,0.0113779,0.975779
1300,P0DJI8,A,V,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,0.48,0.26,0.58,0.45,0.61,3048,656,ENSG00000173432,ENST00000356524,CCDS7835.1,SAA1,0.57,benign,0.049,tolerated,0.72,-0.339585,2.392,P0DJI8_A70V,A,V,70,AV,A70V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.0130425,0,0.444776,0.93831
1393,P00734,E,K,352,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,3581,135,ENSG00000180210,ENST00000530231,,F2,0.6,probably_damaging,0.94,deleterious,0.01,4.92592,28.5,P00734_E352K,E,K,352,EK,E352K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.005,-2.863,1.858,0.027,H,A,1.3,-0.05,,,,0.00140315,0,0.0478503,0.742884
1414,Q13702,A,V,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,6274,4296,ENSG00000165917,ENST00000352508,CCDS7937.1,RAPSN,0.54,probably_damaging,0.929,deleterious,0,5.1716,32,Q13702_A189V,A,V,189,AV,A189V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,0.00207012,0,0.0705954,0.895182
1513,O00170,G,G,83,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.57,0.04,,,,,,,,,4106,2524,ENSG00000110711,ENST00000529797,,AIP,0.36,,,,,1.27638,10.17,O00170_G83G,G,G,83,GG,G83G,Special,Special,3.29,3.29,0,75,75,0,60.1,60.1,0,0,,,,,,,,,,,,0.00404053,0,0.13779,0.977856
1585,Q8NHX9,M,L,484,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,0.129,0.035,0.177,0.1,0.002,0.1,0.04,0.22,23769,917,ENSG00000162341,ENST00000542467,,TPCN2,0.85,benign,0.01,tolerated,0.89,-0.641124,1.17,Q8NHX9_M484L,M,L,484,ML,M484L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-2.02,-1.946,-0.074,,,,,,34.805,34.805,92.69,0.0018081,0,0.0616597,1.01867
1597,Q9UBM7,G,R,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.13,,,,,,,,,21,231,ENSG00000172893,ENST00000525137,,DHCR7,0.13,probably_damaging,0.999,deleterious,0,4.8164,27.3,Q9UBM7_G33R,G,R,33,GR,G33R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00188629,0,0.0643263,0.954089
1598,Q9UBM7,R,H,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.13,,,,,,,,,26,236,ENSG00000172893,ENST00000525137,,DHCR7,0.13,probably_damaging,0.998,deleterious,0,4.95929,28.9,Q9UBM7_R31H,R,H,31,RH,R31H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,,,,,,,,,0.00236706,0.0045045,0.0807217,0.814002
1600,Q9UBM7,S,L,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,0,0,0,,,,,,1,14,ENSG00000172893,ENST00000355527,CCDS8200.1,DHCR7,0.36,benign,0.272,tolerated,0.07,1.77491,11.89,Q9UBM7_S169L,S,L,169,SL,S169L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.638,-3.275,1.637,,,,,,2.62,,71.37,0.00327001,0,0.111514,1.03612
1789,P02647,G,R,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,534,1302,ENSG00000118137,ENST00000236850,CCDS8378.1,APOA1,0.19,probably_damaging,0.999,deleterious,0,2.72822,15.08,P02647_G50R,G,R,50,GR,G50R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.383,-4.045,2.662,0.23,I,A,0.91,0,2.684,,67.04,0.00397853,0,0.135676,0.707582
1906,P04275,C,R,2773,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,175536,266,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.99,benign,0.199,deleterious,0,2.93928,15.8,P04275_C2773R,C,R,2773,CR,C2773R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-0.901,-4.135,3.234,,,,,,,,,0.00459086,0,0.156558,0.730965
1948,P60174,F,L,241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,337,25,ENSG00000111669,ENST00000396705,CCDS8566.1,TPI1,0.97,probably_damaging,0.986,deleterious,0,5.02367,29.6,P60174_F241L,F,L,241,FL,F241L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.00563396,0,0.19213,0.942379
1961,P46527,W,X,76,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.09,,,,,,,,,205,3139,ENSG00000111276,ENST00000228872,CCDS8653.1,CDKN1B,0.38,,,,,11.4553,45,P46527_W76X,W,X,76,WX,W76X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00202039,0,0.0688994,0.940107
2007,P11473,I,S,314,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,58586,1948,ENSG00000111424,ENST00000229022,CCDS8757.1,VDR,0.74,benign,0.079,deleterious,0,3.60427,18.35,P11473_I314S,I,S,314,IS,I314S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-1.808,-3.499,1.691,,,,,,2.795,,86.42,0.00279355,0,0.0952659,0.934998
2051,P08237,R,X,95,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.09,,,,,,,,,10193,29,ENSG00000152556,ENST00000549003,,PFKM,0.81,,,,,4.59953,25.1,P08237_R95X,R,X,95,RX,R95X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2060,Q71U36,R,H,367,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,1704,151,ENSG00000167552,ENST00000550767,,TUBA1A,0.88,benign,0.082,,,1.89836,12.31,Q71U36_R367H,R,H,367,RH,R367H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00154103,0,0.0525523,0.924823
2099,P02538,E,K,472,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,4920,1164,ENSG00000205420,ENST00000330722,CCDS41786.1,KRT6A,0.84,probably_damaging,0.953,deleterious,0.01,5.35011,34,P02538_E472K,E,K,472,EK,E472K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.978,-2.36,1.382,,,,,,14.443,14.443,56.03,0.000787729,0,0.0268632,0.948191
2153,Q9UBC5,R,X,93,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.05,0.004,0.001,0.005,0.001,,0.003,,,156,12,ENSG00000166866,ENST00000300119,CCDS8929.1,MYO1A,0.09,,,,,5.04376,29.9,Q9UBC5_R93X,R,X,93,RX,R93X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00087343,0,0.0297858,0.977351
2218,P00439,G,X,272,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.07,,,,,,,,,573,9129,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.6,,,,,9.65716,42,P00439_G272X,G,X,272,GX,G272X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.00357191,0,0.12181,0.941219
2298,P16219,R,W,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,1254,10691,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.11,probably_damaging,0.999,deleterious,0,3.62134,18.43,P16219_R46W,R,W,46,RW,R46W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.529,-5.053,3.524,0.115,H,A,1.67,0.63,0.477,,71.84,0.00297458,0,0.101439,0.680314
2334,P29033,M,V,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.13,,,,,,,,,686,1623,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.72,possibly_damaging,0.52,tolerated,0.2,3.68753,18.74,P29033_M163V,M,V,163,MV,M163V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.786,-2.021,0.235,0.172,.,B,0.11,-0.15,14.176,14.176,81.42,0.00579709,0,0.197693,0.937547
2428,P35670,T,M,790,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,22825,4398,ENSG00000123191,ENST00000400370,,ATP7B,0.76,probably_damaging,0.959,deleterious,0,4.74033,26.5,P35670_T790M,T,M,790,TM,T790M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.000536068,0,0.018281,0.993053
2462,P28715,A,V,792,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,744,1571,ENSG00000134899,ENST00000355739,CCDS32004.1,ERCC5,0.67,probably_damaging,0.982,deleterious,0,5.88184,36,P28715_A792V,A,V,792,AV,A792V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-0.919,-2.954,2.035,,,,,,,,,0.000288916,0,0.00985264,0.857867
2479,P02462,G,E,528,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,119867,38312,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0.32,,,deleterious,0,3.87733,19.7,P02462_G528E,G,E,528,GE,G528E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.741,-3.54,2.799,,,,,,,,,0.000148274,0,0.00505644,0.794625
2490,P00491,Y,C,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,1791,12,ENSG00000198805,ENST00000554469,,PNP,0.83,,,deleterious,0,3.48074,17.81,P00491_Y124C,Y,C,124,YC,Y124C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00505629,0,0.17243,0.912795
2500,P03950,P,L,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,0,0,0,,,,,,5189,216,ENSG00000214274,ENST00000336811,CCDS9554.1,ANG,0.93,probably_damaging,1,deleterious,0,2.51352,14.36,P03950_P136L,P,L,136,PL,P136L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.066,-2.218,1.152,,E,B,1.07,-0.48,19.414,19.414,51.7,0.0171372,0.0909091,0.584413,0.70407
2522,P12883,A,V,728,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,0,0,0,,,,,,9921,13060,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.38,benign,0.022,deleterious,0.01,2.9832,15.95,P12883_A728V,A,V,728,AV,A728V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.786,-3.315,1.529,,,,,,3.83,,92.92,0.000201762,0,0.00688051,0.962514
2533,P12883,R,C,453,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,6714,16267,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.23,probably_damaging,1,deleterious,0,3.58489,18.26,P12883_R453C,R,C,453,RC,R453C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.582,-4.769,3.187,0.513,.,B,1.66,0,,,,4.78e-05,0,0.00162978,0.742803
2535,P12883,R,L,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,6441,16540,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.21,probably_damaging,0.999,deleterious,0,4.09265,21.1,P12883_R403L,R,L,403,RL,R403L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.582,-3.04,1.458,0.654,B,B,1.75,0,,,,7.73e-05,0,0.00263741,0.888843
2536,P12883,R,Q,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,6441,16540,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.21,probably_damaging,0.999,deleterious,0,4.43456,23.6,P12883_R403Q,R,Q,403,RQ,R403Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,0.654,B,B,0.56,0,,,,7.73e-05,0,0.00263741,0.911463
2537,P12883,R,W,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,6440,16541,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.21,probably_damaging,1,deleterious,0,2.50757,14.34,P12883_R403W,R,W,403,RW,R403W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,0.654,B,B,1.67,0,,,,7.73e-05,0,0.00263741,0.762973
2554,Q9BSI4,K,X,280,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.07,,,,,,,,,44,39,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.62,,,,,7.28369,38,Q9BSI4_K280X,K,X,280,KX,K280X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00298602,0,0.101829,0.955443
2555,Q9BSI4,K,E,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,44,39,ENSG00000092330,ENST00000267415,CCDS41936.1,TINF2,0.62,probably_damaging,0.998,deleterious,0,4.12609,21.3,Q9BSI4_K280E,K,E,280,KE,K280E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.142,-2.934,1.792,,,,,,2.952,,59.65,0.00298602,0,0.101829,0.944446
2567,P22735,S,C,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,1457,75,ENSG00000092295,ENST00000206765,CCDS9622.1,TGM1,0.2,probably_damaging,0.997,deleterious,0.01,3.61276,18.39,P22735_S160C,S,C,160,SC,S160C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.622,-4.601,2.979,,,,,,0.936,,44.55,0.00177283,0,0.060457,0.816004
2750,Q9UBX5,P,S,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,10008,14,ENSG00000140092,ENST00000556154,,FBLN5,0.2,benign,0,tolerated,0.84,-0.177859,3.134,Q9UBX5_P92S,P,S,92,PS,P92S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,,,,0.954036
2758,Q9UPY3,L,R,1583,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,7259,824,ENSG00000100697,ENST00000343455,CCDS9931.1,DICER1,0.82,probably_damaging,0.994,deleterious,0,4.1361,21.3,Q9UPY3_L1583R,L,R,1583,LR,L1583R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.208,-3.668,2.46,,,,,,,,,,,,0.772039
2779,Q04671,A,V,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.15,,,,,,,,,84494,64310,ENSG00000104044,ENST00000354638,CCDS10020.1,OCA2,0.4,probably_damaging,0.999,deleterious,0.01,3.66625,18.63,Q04671_A334V,A,V,334,AV,A334V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.242,-2.919,1.677,,,,,,4.183,,58.47,0.00132743,0,0.0452682,0.944622
2934,Q9BX79,P,L,308,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,0,0,0,,,,,,1120,4,ENSG00000137868,ENST00000574278,,STRA6,0.45,benign,0.025,deleterious,0,2.14507,13.13,Q9BX79_P308L,P,L,308,PL,P308L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
2964,P12271,R,W,234,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,1050,44,ENSG00000140522,ENST00000268125,CCDS32324.1,RLBP1,0.74,probably_damaging,1,deleterious,0,4.00239,20.5,P12271_R234W,R,W,234,RW,R234W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.171,.,b,1.67,-1.11,,,,0.00328025,0,0.111863,0.525524
2973,P54098,E,X,873,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.01,,,,,,,,,412,422,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.7,,,,,10.909,44,P54098_E873X,E,X,873,EX,E873X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00061014,0,0.020807,0.980139
3052,O15553,F,L,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,802,756,ENSG00000103313,ENST00000219596,CCDS10498.1,MEFV,0.61,benign,0,tolerated,1,-1.83996,0.009,O15553_F479L,F,L,479,FL,F479L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-2.422,-1.524,-0.898,,,,,,24.522,24.522,88.99,0.00263412,0,0.0898289,1.01543
3075,O15305,H,L,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,369,87,ENSG00000140650,ENST00000268261,CCDS10536.1,PMM2,0.89,benign,0.091,deleterious,0.01,3.45058,17.68,O15305_H218L,H,L,218,HL,H218L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.897,-3.142,1.245,0.165,.,B,0.72,2.37,6.316,,92.28,0.00916513,0,0.31255,0.899161
3169,O95255,L,P,851,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.01,,,,,,,,,32,4408,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.57,possibly_damaging,0.804,deleterious,0,2.29584,13.63,O95255_L851P,L,P,851,LP,L851P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.333,-3.514,2.181,0.182,I,A,1.07,0.05,16.129,16.129,32.6,0.000494692,0,0.01687,0.690903
3171,O95255,Y,X,837,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.03,,,,,,,,,10,4449,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.56,,,,,8.64179,41,O95255_Y837X,Y,X,837,YX,Y837X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000420898,0,0.0143535,0.970188
3174,O95255,A,P,820,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,63,4502,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.55,possibly_damaging,0.465,deleterious,0.01,2.95214,15.84,O95255_A820P,A,P,820,AP,A820P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.894,-4.198,2.304,,,,,,2.25,,92.75,0.000683871,0,0.0233214,0.875222
3179,O95255,G,G,800,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.57,0.03,0.965,0.896,1,0.98,1,0.99,0.92,1,44622,28680,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.53,,,,,-0.788999,0.706,O95255_G800G,G,G,800,GG,G800G,Special,Special,3.29,3.29,0,75,75,0,60.1,60.1,0,0,,,,,,,,,,,,0.000140128,0,0.00477866,1.00522
3215,O95255,L,H,463,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,30562,11168,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.31,probably_damaging,0.998,deleterious,0,4.44239,23.7,O95255_L463H,L,H,463,LH,L463H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.804,-5.181,3.377,,,,,,1.017,,66.4,0.00050207,0,0.0171216,0.853808
3228,O95255,S,S,359,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.57,0.07,0.008,0.021,0.001,0.02,0.01,0.01,0.02,0.02,21335,100,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.24,,,,,0.952093,8.883,O95255_S359S,S,S,359,SS,S359S,Polar,Polar,5.68,5.68,0,105,105,0,89,89,0,0,,,,,,,,,,,,0.0006255,0,0.0213308,1.00426
3242,P51170,W,X,573,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.05,,,,,,,,,32522,1647,ENSG00000166828,ENST00000300061,CCDS10608.1,SCNN1G,0.88,,,,,6.3134,37,P51170_W573X,W,X,573,WX,W573X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0032605,0,0.11119,0.931205
3249,P51168,E,K,584,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,31901,309,ENSG00000168447,ENST00000307331,,SCNN1B,0.85,probably_damaging,0.997,deleterious,0,4.87423,27.9,P51168_E584K,E,K,584,EK,E584K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00852575,0.0178571,0.290746,0.932085
3276,P15735,R,X,44,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.09,,,,,,,,,2296,242,ENSG00000156873,ENST00000563588,CCDS10690.1,PHKG2,0.11,,,,,5.22814,33,P15735_R44X,R,X,44,RX,R44X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00273166,0,0.0931552,0.951177
3279,P15735,G,E,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.01,,,,,,,,,2959,239,ENSG00000156873,ENST00000565897,,PHKG2,0.71,probably_damaging,1,deleterious,0,4.64027,25.5,P15735_G189E,G,E,189,GE,G189E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,0.08,S,g,0.75,0.22,,,,0.00147923,0,0.0504449,0.606675
3307,Q9HC29,A,T,612,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,0,0,0.001,,,,,,450,794,ENSG00000167207,ENST00000300589,CCDS10746.1,NOD2,0.59,probably_damaging,0.999,deleterious,0,3.12126,16.43,Q9HC29_A612T,A,T,612,AT,A612T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.075,-3.097,2.022,,,,,,4.397,,88.08,0.000241093,0,0.00822177,0.907974
3343,Q9Y653,C,S,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,1608,9,ENSG00000205336,ENST00000568234,,GPR56,0.66,probably_damaging,0.998,deleterious,0,2.85296,15.5,Q9Y653_C96S,C,S,96,CS,C96S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,,,,,,,,,,,,0.000469279,0,0.0160034,0.986047
3356,P04180,M,K,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,2531,154,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.63,probably_damaging,0.979,deleterious,0,4.73835,26.4,P04180_M276K,M,K,276,MK,M276K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.657,-3.483,1.826,,,,,,1.973,,74.32,0.00309911,0,0.105686,0.941894
3397,Q99958,Y,X,99,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.12,,,,,,,,,130,1302,ENSG00000176692,ENST00000320354,CCDS10958.1,FOXC2,0.2,,,,,5.72059,36,Q99958_Y99X,Y,X,99,YX,Y99X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000303505,0,0.0103501,0.970188
3491,P49748,A,T,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,20,25,ENSG00000072778,ENST00000542255,,ACADVL,0.13,,,,,3.34495,17.26,P49748_A36T,A,T,36,AT,A36T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.486,-2.068,0.582,,,,,,21.513,21.513,87.48,0.000107952,0,0.00368137,1.02003
3492,P49748,G,D,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,40,18,ENSG00000072778,ENST00000542255,,ACADVL,0.22,,,,,2.83574,15.45,P49748_G61D,G,D,61,GD,G61D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00136636,0.0016835,0.0465958,0.902469
3515,P04637,R,Q,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,0,0,0,,,,,,633,3,ENSG00000141510,ENST00000413465,,TP53,0.87,probably_damaging,0.985,deleterious,0,4.82291,27.3,P04637_R248Q,R,Q,248,RQ,R248Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.994,-2.788,1.794,0.949,S,L,0.56,0,9.417,9.417,64.12,0.0015331,0,0.0522819,0.834012
3525,P04637,K,X,120,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.05,,,,,,,,,518,782,ENSG00000141510,ENST00000508793,,TP53,0.73,,,,,6.12369,37,P04637_K120X,K,X,120,KX,K120X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00111055,0,0.0378719,0.912628
3531,O75342,H,Q,578,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,5736,524,ENSG00000179477,ENST00000319144,CCDS11129.1,ALOX12B,0.82,probably_damaging,0.994,deleterious,0,4.1111,21.2,O75342_H578Q,H,Q,578,HQ,H578Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.124,-3.53,2.406,,,,,,,,,0.000765679,0,0.0261112,0.841376
3584,O15353,R,X,255,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.04,,,,,,,,,5216,8280,ENSG00000109101,ENST00000579795,CCDS11232.1,FOXN1,0.39,,,,,6.79421,38,O15353_R255X,R,X,255,RX,R255X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3648,P02533,M,R,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,417,623,ENSG00000186847,ENST00000167586,CCDS11400.1,KRT14,0.58,probably_damaging,0.993,deleterious,0,3.8327,19.46,P02533_M272R,M,R,272,MR,M272R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.56,-3.121,1.561,,,,,,19.68,19.68,49.15,0.00198017,0,0.0675278,0.942735
3689,Q96J92,K,E,1169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,15565,848,ENSG00000126562,ENST00000246914,CCDS11439.1,WNK4,0.94,,,deleterious,0,3.2485,16.89,Q96J92_K1169E,K,E,1169,KE,K1169E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.207,-2.911,1.704,,,,,,2.065,,39.58,0.00171801,0,0.0585875,0.917302
3741,P28799,Q,X,125,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.07,,,,,,,,,5128,2852,ENSG00000030582,ENST00000053867,CCDS11483.1,GRN,0.21,,,,,2.9817,15.94,P28799_Q125X,Q,X,125,QX,Q125X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00206356,0,0.0703718,0.963541
3841,P02452,G,A,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,526,1657,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.13,,,deleterious,0.01,3.92015,19.94,P02452_G191A,G,A,191,GA,G191A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.921,-2.588,1.667,,,,,0,,,,2.47e-05,0,0.000842157,0.817456
3842,P02452,G,D,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,526,1657,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.13,,,deleterious,0,4.10077,21.1,P02452_G191D,G,D,191,GD,G191D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,,,,0,,,,2.47e-05,0,0.000842157,0.661018
3856,P11678,R,H,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.11,0,0,0,0.001,,,,0.001,4257,8181,ENSG00000121053,ENST00000225371,CCDS11602.1,EPX,0.4,possibly_damaging,0.733,deleterious,0,5.24568,33,P11678_R286H,R,H,286,RH,R286H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,0.06,.,B,1.03,-1.07,,,,0.000505438,0,0.0172365,0.563656
4016,Q01718,R,X,201,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.07,,,,,,,,,731,293,ENSG00000185231,ENST00000327606,CCDS11869.1,MC2R,0.68,,,,,6.88565,38,Q01718_R201X,R,X,201,RX,R201X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00232792,0,0.0793869,0.959768
4035,O15118,Q,P,928,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,20520,93,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.73,benign,0.089,tolerated,0.06,2.66821,14.88,O15118_Q928P,Q,P,928,QP,Q928P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-2.322,-3.579,1.257,,,,,,13.743,13.743,89.12,0.00101615,0,0.0346529,0.971284
4086,P02766,A,G,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,6855,431,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.8,probably_damaging,0.965,deleterious,0,3.82593,19.43,P02766_A117G,A,G,117,AG,A117G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.984,-3.245,1.261,0.029,E,B,0.29,-0.31,11.793,11.793,76.19,0.00965981,0,0.32942,0.810039
4096,Q8IVV2,R,X,670,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.04,,,,,,,,,29392,62558,ENSG00000167210,ENST00000441551,,LOXHD1,0.32,,,,,8.50857,40,Q8IVV2_R670X,R,X,670,RX,R670X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4193,P36507,F,V,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.11,,,,,,,,,6564,27232,ENSG00000126934,ENST00000262948,CCDS12120.1,MAP2K2,0.14,probably_damaging,0.981,deleterious,0,4.41523,23.4,P36507_F57V,F,V,57,FV,F57V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.524,-2.985,1.461,,,,,,,,,,,,0.857299
4206,P06213,V,M,1012,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,0.006,0.002,0.009,0.004,,0.01,,0.01,168494,13252,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.73,possibly_damaging,0.673,deleterious,0,4.18009,21.6,P06213_V1012M,V,M,1012,VM,V1012M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.751,-4.099,2.348,0.142,.,B,0.11,1.82,2.464,,66.71,0.000924472,0,0.0315264,0.758264
4227,Q9GZU1,R,C,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,6563,4836,ENSG00000090674,ENST00000264079,CCDS12180.1,MCOLN1,0.69,probably_damaging,0.999,deleterious,0,4.40536,23.3,Q9GZU1_R403C,R,C,403,RC,R403C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.00129925,0,0.0443071,0.692287
4268,O75792,R,Q,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,6535,500,ENSG00000104889,ENST00000221486,CCDS12282.1,RNASEH2A,0.79,probably_damaging,1,deleterious,0,5.79313,36,O75792_R235Q,R,Q,235,RQ,R235Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.442,-3.44,1.998,,,,,,1.413,,76.59,,,,0.862886
4269,O75792,T,M,240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,6550,485,ENSG00000104889,ENST00000221486,CCDS12282.1,RNASEH2A,0.8,probably_damaging,1,deleterious,0,3.64076,18.52,O75792_T240M,T,M,240,TM,T240M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.32,-4.32,3,,,,,,1.197,,76.59,,,,0.82522
4342,P82251,R,W,333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,0,0,0,,,,,,25846,13417,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.68,probably_damaging,0.999,deleterious,0,3.4842,17.82,P82251_R333W,R,W,333,RW,R333W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.00205494,0,0.0700777,0.784789
4361,P06744,R,H,358,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,28917,8370,ENSG00000105220,ENST00000415930,CCDS54246.1,GPI,0.63,probably_damaging,0.992,deleterious,0,5.0432,29.9,P06744_R358H,R,H,358,RH,R358H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000236161,0,0.00805357,1.0021
4374,O43291,Y,C,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,0,0,0,,,,,,25757,2399,ENSG00000167642,ENST00000454580,CCDS54261.1,SPINT2,0.54,probably_damaging,0.999,deleterious,0,3.17245,16.61,O43291_Y106C,Y,C,106,YC,Y106C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00485585,0.00684931,0.165595,0.913247
4488,Q7Z406,L,F,984,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,61065,39119,ENSG00000105357,ENST00000425460,CCDS46151.1,MYH14,0.49,possibly_damaging,0.612,deleterious,0,2.01126,12.68,Q7Z406_L984F,L,F,984,LF,L984F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,,,,0.961576
4564,Q9HC10,P,R,1220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,17984,2855,ENSG00000115155,ENST00000338581,CCDS1726.1,OTOF,0.99,probably_damaging,1,deleterious,0,4.32184,22.7,Q9HC10_P1220R,P,R,1220,PR,P1220R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,,,,0.946563
4568,Q9HC10,R,Q,1520,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,308,2512,ENSG00000115155,ENST00000403946,,OTOF,0.76,benign,0.005,tolerated,0.44,2.10725,13,Q9HC10_R1520Q,R,Q,1520,RQ,R1520Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.968,-2.725,0.757,,,,,,10.991,10.991,92.94,,,,0.955795
4569,Q9HC10,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.57,0.08,,,,,,,,,387,3206,ENSG00000115155,ENST00000403946,,OTOF,,,,,,3.96362,20.3,Q9HC10_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4584,P39210,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.57,0.03,0,0,0,,,,,,6,691,ENSG00000115204,ENST00000405076,,MPV17,,,,,,3.70371,18.81,P39210_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4782,Q9UNE0,V,A,402,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.13,0.01,0.013,0.009,0.29,0.88,0.32,0.01,0.01,92125,2667,ENSG00000135960,ENST00000409271,,EDAR,0.84,possibly_damaging,0.466,deleterious,0.03,3.24921,16.9,Q9UNE0_V402A,V,A,402,VA,V402A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,,,,,,,,,,,,0.0075486,0,0.257423,0.934801
5018,P02751,Y,C,973,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,29762,45440,ENSG00000115414,ENST00000357867,CCDS2400.1,FN1,0.45,probably_damaging,1,deleterious,0,4.52833,24.4,P02751_Y973C,Y,C,973,YC,Y973C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,,,,,,,,,2.91e-05,0,0.00099186,0.782576
5096,P53420,G,E,897,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,108143,48646,ENSG00000081052,ENST00000329662,,COL4A4,0.53,,,deleterious,0,1.75738,11.84,P53420_G897E,G,E,897,GE,G897E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.985,-3.475,2.49,,,,,,3.176,,78.9,,,,0.830913
5257,Q8NBS3,L,P,843,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,1440,592,ENSG00000088836,ENST00000380056,CCDS13052.1,SLC4A11,0.95,benign,0.154,deleterious,0.03,2.8564,15.51,Q8NBS3_L843P,L,P,843,LP,L843P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00638629,0,0.217786,0.737137
5277,P04156,A,V,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,13075,254,ENSG00000171867,ENST00000424424,,PRNP,0.53,benign,0.002,deleterious,0.02,3.156,16.55,P04156_A133V,A,V,133,AV,A133V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.299,-1.957,0.658,0.641,.,b,0.44,-0.28,22.241,22.241,66.4,0.00314975,0,0.107413,0.900835
5333,P43026,E,K,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,915,597,ENSG00000125965,ENST00000374372,CCDS13254.1,GDF5,0.98,possibly_damaging,0.714,tolerated,0.06,4.18933,21.7,P43026_E491K,E,K,491,EK,E491K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.2,-2.877,1.677,0.642,E,B,1.3,0.18,3.446,,38.12,0.00805292,0,0.274621,0.797495
5335,P43026,S,N,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,962,644,ENSG00000125965,ENST00000374372,CCDS13254.1,GDF5,0.95,probably_damaging,0.974,deleterious,0,4.40195,23.3,P43026_S475N,S,N,475,SN,S475N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.277,-3.144,1.867,0.248,E,B,0.34,-0.33,1.37,,35.53,0.00272293,0,0.0928574,0.743618
5397,Q9UJQ4,K,X,175,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.07,,,,,,,,,1119,24,ENSG00000101115,ENST00000217086,CCDS13438.1,SALL4,0.17,,,,,5.40965,34,Q9UJQ4_K175X,K,X,175,KX,K175X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000134012,0,0.00457009,0.983498
5501,P15382,T,I,7,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,6127,370,ENSG00000180509,ENST00000416357,CCDS13636.1,KCNE1,0.05,probably_damaging,0.999,deleterious,0,3.53618,18.05,P15382_T7I,T,I,7,TI,T7I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-0.998,-3.416,2.418,0.482,H,A,0.7,0,,,,0.00822963,0,0.280647,0.706345
5547,P05107,K,T,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,8985,95,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.25,benign,0.023,tolerated,0.1,0.494289,6.681,P05107_K196T,K,T,196,KT,K196T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.935,-2.43,0.495,0.457,.,a,2.12,0.14,17.748,17.748,77.24,0.00117685,0,0.0401329,0.97554
5585,P15814,P,L,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,6419,25,ENSG00000128322,ENST00000330377,CCDS13809.1,IGLL1,0.67,probably_damaging,0.991,deleterious,0,0.858936,8.477,P15814_P142L,P,L,142,PL,P142L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.15,-2.134,0.984,0.06,S,B,1.07,-0.77,26.092,26.092,69.48,0.00317811,0,0.10838,0.743829
5599,P35240,R,X,299,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.11,,,,,,,,,67848,12069,ENSG00000186575,ENST00000361676,CCDS13863.1,NF2,0.55,,,,,5.2588,33,P35240_R299X,R,X,299,RX,R299X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00078561,0,0.0267909,0.977351
5609,P35625,S,C,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.11,,,,,,,,,1157,743,ENSG00000100234,ENST00000266085,CCDS13911.1,TIMP3,0.85,possibly_damaging,0.804,deleterious,0,2.80271,15.33,P35625_S179C,S,C,179,SC,S179C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.607,-4.318,2.711,,,,,,1.737,,81.04,,,,0.821968
5620,P35579,N,K,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,16154,30,ENSG00000100345,ENST00000456729,,MYH9,0.9,probably_damaging,0.999,deleterious,0,3.63477,18.49,P35579_N93K,N,K,93,NK,N93K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-0.975,-3.107,2.132,0.244,.,B,1.73,0.02,,,,9.18e-05,0,0.00313116,0.745788
5667,P00387,C,Y,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,6023,316,ENSG00000100243,ENST00000407623,CCDS14040.1,CYB5R3,0.65,probably_damaging,0.997,deleterious,0.01,3.79735,19.28,P00387_C181Y,C,Y,181,CY,C181Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00102385,0,0.0349155,0.900841
5684,O75648,G,D,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,292,898,ENSG00000100416,ENST00000290846,CCDS14075.1,TRMU,0.65,probably_damaging,0.949,deleterious,0,3.15663,16.56,O75648_G272D,G,D,272,GD,G272D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.00157088,0,0.0535704,0.720605
5711,P15289,,,,Transcript,3PRIME_UTR,2,3_prime_UTR,pathogenic,0.57,0.04,,,,0.04,0.02,0.04,,0.08,3107,16,ENSG00000100299,ENST00000547805,,ARSA,,,,,,1.58277,11.25,P15289_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5767,P56539,E,K,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,510,1207,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.31,probably_damaging,1,deleterious,0,3.58338,18.25,P56539_E47K,E,K,47,EK,E47K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.67,-3.216,2.546,,,,,,0.861,,27.81,0.00338797,0,0.115537,0.839618
5871,P16278,Y,C,460,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,99529,578,ENSG00000170266,ENST00000307377,CCDS46785.1,GLB1,0.84,probably_damaging,1,deleterious,0,4.03727,20.7,P16278_Y460C,Y,C,460,YC,Y460C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00256961,0,0.087629,0.941332
5930,Q14524,G,C,514,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,29255,53741,ENSG00000183873,ENST00000449557,,SCN5A,0.26,possibly_damaging,0.868,deleterious,0.04,2.16231,13.19,Q14524_G514C,G,C,514,GC,G514C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.391,-4.636,3.245,,,,,,1.703,,79.46,,,,0.808186
5956,Q03431,I,R,458,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,169,688,ENSG00000160801,ENST00000430002,CCDS2747.1,PTH1R,0.77,probably_damaging,0.993,deleterious,0,3.83327,19.47,Q03431_I458R,I,R,458,IR,I458R,Hydrophobic,PositiveCharge,6.02,6.34,0.32,131,174,43,166.7,173.4,6.7,97,-1.541,-3.666,2.125,,,,,,5.549,,51.77,0.00120258,0,0.0410105,0.874708
6002,Q03154,R,C,353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,0.003,0.001,0.003,0.001,,0.003,,,519,160,ENSG00000243989,ENST00000404366,CCDS2844.1,ACY1,0.87,probably_damaging,1,deleterious,0,2.82756,15.42,Q03154_R353C,R,C,353,RC,R353C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.00212893,0,0.0726009,0.75458
6013,O75369,F,C,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,68835,93540,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.06,probably_damaging,0.999,deleterious,0,4.36078,23,O75369_F161C,F,C,161,FC,F161C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.351,-4.598,3.247,,S,a,0.12,-0.48,,,,2.42e-05,0,0.000823731,0.603112
6014,O75369,G,S,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.01,,,,,,,,,68855,93520,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.06,probably_damaging,0.987,deleterious,0,5.19699,33,O75369_G168S,G,S,168,GS,G168S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,S,l,0.02,-0.43,,,,1.9e-05,0,0.000647648,0.700116
6040,O75369,R,X,1993,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.13,,,,,,,,,462,407,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.77,,,,,13.9948,48,O75369_R1993X,R,X,1993,RX,R1993X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000213288,0,0.00727357,0.977351
6140,P41180,F,L,788,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,30154,972,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.73,probably_damaging,0.993,deleterious,0,4.08566,21,P41180_F788L,F,L,788,FL,F788L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.047,-1.656,0.609,,,,,,13.446,13.446,35.71,0.00026605,0,0.00907285,0.983723
6141,P41180,F,C,788,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,30155,971,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.73,probably_damaging,0.999,deleterious,0.01,3.74659,19.02,P41180_F788C,F,C,788,FC,F788C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.047,-3.174,2.127,,,,,,16.229,16.229,35.71,0.00026605,0,0.00907285,0.841139
6146,Q96N76,L,P,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,7042,28857,ENSG00000159650,ENST00000383579,CCDS54636.1,UROC1,0.1,possibly_damaging,0.779,deleterious,0.04,2.8653,15.54,Q96N76_L70P,L,P,70,LP,L70P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.909,-3.774,1.865,,,,,,2.263,,91.57,0.00162813,0,0.0555225,0.945466
6160,P08100,P,H,23,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,161,6369,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.07,probably_damaging,1,deleterious,0,4.90639,28.3,P08100_P23H,P,H,23,PH,P23H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.115,-4.416,3.301,,T,a,0.35,-0.72,,,,0.00093975,0,0.0320474,0.559669
6162,P08100,G,R,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,244,6286,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.15,probably_damaging,1,deleterious,0,5.08711,31,P08100_G51R,G,R,51,GR,G51R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.15,-3.663,2.513,,H,A,0.91,-0.7,2.517,,79.6,0.00204154,0,0.0696209,0.580536
6179,P08100,D,N,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,3648,2882,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.55,possibly_damaging,0.793,deleterious,0,4.30335,22.5,P08100_D190N,D,N,190,DN,D190N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.361,-3.213,1.852,,.,b,0.14,-0.54,1.819,,69.25,0.000426078,0,0.0145301,0.7961
6180,P08100,D,Y,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,3648,2882,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.55,probably_damaging,0.973,deleterious,0,3.41039,17.52,P08100_D190Y,D,Y,190,DY,D190Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.361,-4.118,2.757,,.,b,0.96,-0.54,1.213,,69.25,0.000426078,0,0.0145301,0.578905
6181,P08100,D,G,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,3649,2881,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.55,possibly_damaging,0.844,deleterious,0,3.10948,16.39,P08100_D190G,D,G,190,DG,D190G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.361,-2.863,1.502,,.,b,0.46,-0.54,5.427,,69.25,0.000426078,0,0.0145301,0.760535
6185,P08100,P,L,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,3996,2534,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.77,probably_damaging,1,deleterious,0,4.99877,29.4,P08100_P267L,P,L,267,PL,P267L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,0.391,H,A,1.07,-0.6,,,,0.000178947,0,0.00610246,0.747015
6223,P58012,I,S,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.2,,,,,,,,,669,2248,ENSG00000183770,ENST00000330315,CCDS3105.1,FOXL2,0.22,probably_damaging,0.997,deleterious,0,4.17961,21.6,P58012_I84S,I,S,84,IS,I84S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-1.313,-3.388,2.075,,,,,,,,,0.00126285,0,0.0430659,0.738242
6339,Q13144,R,G,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,176,18,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.44,benign,0.212,deleterious,0.02,3.78005,19.19,Q13144_R315G,R,G,315,RG,R315G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.415,-3.198,1.783,,,,,,2.576,,64.49,0.0014494,0,0.0494274,0.901278
6340,Q13144,R,C,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,176,18,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.44,possibly_damaging,0.636,deleterious,0,4.89822,28.2,Q13144_R315C,R,C,315,RC,R315C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.415,-4.927,3.512,,,,,,0.582,,64.49,0.0014494,0,0.0494274,0.808613
6362,Q92685,R,Q,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,0,0,0,,,,,,52,224,ENSG00000214160,ENST00000446569,,ALG3,0.23,probably_damaging,1,deleterious,0,5.60019,36,Q92685_R75Q,R,Q,75,RQ,R75Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
6373,Q9H3D4,K,E,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,74548,81,ENSG00000073282,ENST00000392461,,TP63,0.33,probably_damaging,0.95,deleterious,0,5.33543,34,Q9H3D4_K139E,K,E,139,KE,K139E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.00101601,0,0.034648,0.924221
6589,Q99697,W,X,179,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.09,,,,,,,,,2175,45,ENSG00000164093,ENST00000394598,CCDS3692.1,PITX2,0.56,,,,,5.34221,34,Q99697_W179X,W,X,179,WX,W179X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00115421,0,0.039361,0.889194
6643,P12235,L,P,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.11,,,,,,,,,1667,654,ENSG00000151729,ENST00000281456,CCDS34114.1,SLC25A4,0.33,possibly_damaging,0.711,deleterious,0,4.51824,24.3,P12235_L98P,L,P,98,LP,L98P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.765,-3.875,2.11,,,,,,1.478,,93.96,0.00462269,0,0.157643,0.876687
6691,P03951,W,S,535,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,907,285,ENSG00000088926,ENST00000264692,,F11,0.93,probably_damaging,1,deleterious,0,3.87638,19.7,P03951_W535S,W,S,535,WS,W535S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,,,,,,,,,,,,0.00345077,0,0.117678,0.920731
6694,P31040,R,W,554,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,71,260,ENSG00000073578,ENST00000264932,CCDS3853.1,SDHA,0.83,probably_damaging,0.929,deleterious,0,1.88955,12.28,P31040_R554W,R,W,554,RW,R554W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,0.35,.,a,1.67,0.48,,,,0.00215167,0,0.0733764,0.703823
6874,O76082,R,X,282,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.04,0,0,0,,,,,,770,108,ENSG00000197375,ENST00000245407,CCDS4154.1,SLC22A5,0.51,,,,,6.4791,37,O76082_R282X,R,X,282,RX,R282X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000949778,0,0.0323894,0.908362
6913,Q9UH77,R,I,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,33054,2580,ENSG00000146021,ENST00000506491,,KLHL3,0.5,probably_damaging,1,deleterious,0,3.99035,20.4,Q9UH77_R254I,R,I,254,RI,R254I,PositiveCharge,Hydrophobic,6.34,6.02,-0.32,174,131,-43,173.4,166.7,-6.7,97,,,,,,,,,,,,0.00138024,0,0.0470691,0.907001
6914,Q9UH77,F,C,240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,33012,2622,ENSG00000146021,ENST00000506491,,KLHL3,0.48,probably_damaging,0.972,tolerated,0.18,3.94781,20.2,Q9UH77_F240C,F,C,240,FC,F240C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,,,,,,,,,,,,0.000512486,0,0.0174768,0.956177
6919,Q9UH77,Q,X,62,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.04,,,,,,,,,305,14964,ENSG00000146021,ENST00000506491,,KLHL3,0.12,,,,,8.39433,40,Q9UH77_Q62X,Q,X,62,QX,Q62X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00152806,0,0.05211,0.904853
6973,P23415,R,L,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,73427,1715,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.65,probably_damaging,0.97,tolerated,0.06,4.65,25.6,P23415_R299L,R,L,299,RL,R299L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.582,-3.04,1.458,,,,,,,,,0.000781623,0,0.026655,0.907388
6974,P23415,R,Q,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,73427,1715,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.65,possibly_damaging,0.748,deleterious,0.04,5.19902,33,P23415_R299Q,R,Q,299,RQ,R299Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,,,,,,,,,0.000781623,0,0.026655,0.92011
6976,P23415,V,M,288,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,73393,1749,ENSG00000145888,ENST00000455880,CCDS54942.1,GLRA1,0.63,probably_damaging,0.988,deleterious,0,5.03535,29.8,P23415_V288M,V,M,288,VM,V288M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.465,-3.712,2.247,,,,,,,,,0.00140656,0,0.0479666,0.757583
7002,P35548,P,H,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.11,,,,,,,,,4620,89,ENSG00000120149,ENST00000239243,CCDS4392.1,MSX2,0.55,probably_damaging,0.997,deleterious,0,3.89249,19.79,P35548_P148H,P,H,148,PH,P148H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.035,-4.457,3.422,,,,,,,,,0.0035283,0,0.120322,0.772254
7003,P35548,R,H,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,4692,17,ENSG00000120149,ENST00000239243,CCDS4392.1,MSX2,0.64,probably_damaging,0.998,deleterious,0,4.91196,28.3,P35548_R172H,R,H,172,RH,R172H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.415,-4.07,2.655,,,,,,2.557,,83.52,0.00227417,0,0.077554,0.87811
7005,Q16143,V,M,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.01,,,,,,,,,3523,5258,ENSG00000074317,ENST00000506696,CCDS4406.1,SNCB,0.52,benign,0.094,tolerated,0.13,1.94234,12.45,Q16143_V70M,V,M,70,VM,V70M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.703,-2.434,0.731,0.7,H,A,0.11,-2.54,9.549,9.549,58.96,0.00558059,0,0.190309,0.829663
7037,O95450,W,X,795,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.11,,,,,,,,,215426,19154,ENSG00000087116,ENST00000251582,CCDS4444.1,ADAMTS2,0.66,,,,,7.78218,39,O95450_W795X,W,X,795,WX,W795X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
7125,P13942,G,R,601,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,678,917,ENSG00000204248,ENST00000395197,,COL11A2,0.36,probably_damaging,1,deleterious,0,3.60991,18.37,P13942_G601R,G,R,601,GR,G601R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.000107934,0,0.00368077,0.793499
7143,P43080,P,L,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,0.001,0.001,0.001,0,,,,,471,4581,ENSG00000048545,ENST00000418175,,GUCA1A,0.57,benign,0.019,tolerated,0.19,2.28266,13.59,P43080_P50L,P,L,50,PL,P50L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.468,-3.144,1.676,0.857,H,A,1.07,0.37,12.267,,62.19,0.00567643,0,0.193578,0.814777
7347,Q96DT5,R,X,2852,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.08,,,,,,,,,205387,152967,ENSG00000105877,ENST00000328843,,DNAH11,0.63,,,,,14.4448,48,Q96DT5_R2852X,R,X,2852,RX,R2852X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7429,Q9BSQ5,Q,X,107,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.07,,,,,,,,,111,2,ENSG00000136280,ENST00000544363,CCDS55108.1,CCM2,0.3,,,,,5.04692,29.9,Q9BSQ5_Q107X,Q,X,107,QX,Q107X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00161338,0,0.0550196,0.904853
7447,P08236,R,C,331,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.11,0,0,0,,,,,,222,123,ENSG00000169919,ENST00000345660,,GUSB,0.55,benign,0,deleterious,0.04,3.39712,17.47,P08236_R331C,R,C,331,RC,R331C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00183847,0,0.0626957,0.937925
7489,P21439,A,D,546,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,35705,37665,ENSG00000005471,ENST00000453593,CCDS5607.1,ABCB4,0.44,probably_damaging,0.998,deleterious,0,5.07732,31,P21439_A546D,A,D,546,AD,A546D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.141,-3.434,2.293,,,,,,3.352,,68.43,7.16e-05,0,0.00244298,0.860084
7511,P08123,G,D,907,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,108,625,ENSG00000164692,ENST00000297268,CCDS34682.1,COL1A2,0.66,,,deleterious,0,4.45185,23.7,P08123_G907D,G,D,907,GD,G907D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,0,,,,9.1e-06,0,0.000310319,0.660197
7574,Q03135,E,X,38,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.16,,,,,,,,,313,413,ENSG00000105974,ENST00000341049,CCDS5767.1,CAV1,0.21,,,,,8.16739,40,Q03135_E38X,E,X,38,EX,E38X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
7728,Q12809,G,S,628,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,4300,2077,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.54,probably_damaging,0.998,deleterious,0,3.3055,17.11,Q12809_G628S,G,S,628,GS,G628S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.176,-3.041,1.865,,,,,,2.618,,59.62,0.000195215,0,0.00665722,0.944185
7785,P06858,W,R,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,12600,20,ENSG00000175445,ENST00000520959,,LPL,0.32,probably_damaging,1,deleterious,0,4.6068,25.1,P06858_W37R,W,R,37,WR,W37R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00254146,0.00228311,0.086669,0.961483
7837,P49675,W,X,212,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.03,,,,,,,,,4373,157,ENSG00000147465,ENST00000522753,,STAR,0.86,,,,,6.06612,37,P49675_W212X,W,X,212,WX,W212X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00596696,0,0.203486,0.900122
7853,P11362,Y,C,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,349,2289,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.39,probably_damaging,0.964,deleterious,0.01,4.70622,26.1,P11362_Y283C,Y,C,283,YC,Y283C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.000418719,0,0.0142792,0.957538
7864,P16157,W,X,881,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.05,,,,,,,,,21788,157,ENSG00000029534,ENST00000520299,,ANK1,0.85,,,,,4.5689,24.8,P16157_W881X,W,X,881,WX,W881X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
7865,P16157,E,X,1710,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.07,,,,,,,,,17841,4104,ENSG00000029534,ENST00000265709,CCDS47849.1,ANK1,0.9,,,,,12.9381,46,P16157_E1710X,E,X,1710,EX,E1710X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
7925,Q6KF10,K,R,424,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,0.001,0.004,,,,16133,2330,ENSG00000156466,ENST00000287020,CCDS34926.1,GDF6,0.93,possibly_damaging,0.44,tolerated,1,0.934925,8.81,Q6KF10_K424R,K,R,424,KR,K424R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.207,-2.08,0.873,,,,,,9.603,9.603,27.91,0.00457015,0,0.155851,0.946696
8052,P07902,W,X,207,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.07,,,,,,,,,530,322,ENSG00000213930,ENST00000450095,,GALT,0.77,,,,,6.38675,37,P07902_W207X,W,X,207,WX,W207X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0044272,0,0.150977,0.916621
8072,Q9Y223,A,V,631,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,27293,1035,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.87,probably_damaging,0.996,deleterious,0,4.80055,27.1,Q9Y223_A631V,A,V,631,AV,A631V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.307,-2.76,1.453,,,,,,,,,0.00124039,0,0.0422997,0.842573
8073,Q9Y223,A,T,631,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,27294,1036,ENSG00000159921,ENST00000539815,CCDS6602.1,GNE,0.87,probably_damaging,0.997,deleterious,0.01,5.32178,34,Q9Y223_A631T,A,T,631,AT,A631T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.307,-2.878,1.571,,,,,,,,,0.00124039,0,0.0422997,0.840525
8096,Q9UBQ7,M,T,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,7765,68,ENSG00000137106,ENST00000318158,CCDS6609.1,GRHPR,0.98,possibly_damaging,0.651,deleterious,0.03,4.41918,23.5,Q9UBQ7_M322T,M,T,322,MT,M322T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.636,-3.261,1.625,0.14,.,B,0.77,2.6,2.193,,65.24,0.0309341,0.166667,1.05491,0.811201
8097,Q9UBQ7,M,R,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.05,,,,,,,,,7765,68,ENSG00000137106,ENST00000318158,CCDS6609.1,GRHPR,0.98,probably_damaging,0.959,deleterious,0,4.70948,26.1,Q9UBQ7_M322R,M,R,322,MR,M322R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.636,-3.607,1.971,0.14,.,B,1.75,2.6,1.596,,65.24,0.0309341,0.166667,1.05491,0.738924
8212,O95477,W,S,590,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,59,5457,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.26,possibly_damaging,0.677,deleterious,0,4.43919,23.6,O95477_W590S,W,S,590,WS,W590S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.301,-3.571,2.27,,,,,,,,,0.00013442,0,0.00458399,0.778406
8852,Q00604,V,E,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,290,340,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.45,benign,0.026,deleterious,0,3.39237,17.45,Q00604_V60E,V,E,60,VE,V60E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.304,-3.4,2.096,,,,,,,,,0.0143787,0,0.490342,0.813459
8878,Q15125,W,X,129,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.04,,,,,,,,,353,52,ENSG00000147155,ENST00000414061,,EBP,0.89,,,,,5.22689,33,Q15125_W129X,W,X,129,WX,W129X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00735001,0,0.250651,0.882394
8890,P42768,A,G,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,1149,57,ENSG00000015285,ENST00000376701,CCDS14303.1,WAS,0.47,possibly_damaging,0.809,tolerated,0.06,4.06613,20.9,P42768_A236G,A,G,236,AG,A236G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.154,-2.906,1.752,,,,,,1.563,,62.55,0.00248377,0,0.0847018,0.949789
8902,O60840,G,D,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,5262,22987,ENSG00000102001,ENST00000376251,,CACNA1F,0.16,possibly_damaging,0.637,deleterious,0,4.65348,25.6,O60840_G304D,G,D,304,GD,G304D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.000136578,0,0.00465758,0.980028
8926,P41229,L,F,664,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,463,539,ENSG00000126012,ENST00000452825,CCDS55417.1,KDM5C,0.48,probably_damaging,0.904,deleterious,0,3.8882,19.76,P41229_L664F,L,F,664,LF,L664F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,,,,0.961576
8933,Q99714,E,Q,240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,878,182,ENSG00000072506,ENST00000375304,CCDS35300.1,HSD17B10,0.95,probably_damaging,0.997,deleterious,0,4.27728,22.3,Q99714_E240Q,E,Q,240,EQ,E240Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,,,,,,,,,,,,0.00585119,0,0.199538,0.952635
8934,Q99714,N,S,238,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,873,187,ENSG00000072506,ENST00000375304,CCDS35300.1,HSD17B10,0.94,probably_damaging,0.999,deleterious,0,4.37977,23.1,Q99714_N238S,N,S,238,NS,N238S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00894235,0,0.304952,0.934238
8946,P98174,M,V,466,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,30370,20343,ENSG00000102302,ENST00000375135,CCDS14359.1,FGD1,0.48,probably_damaging,0.913,deleterious,0.02,4.20418,21.8,P98174_M466V,M,V,466,MV,M466V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.541,-2.631,1.09,,,,,,,,,,,,0.882881
8954,P22557,R,C,398,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,5481,5840,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.69,probably_damaging,1,deleterious,0,4.71736,26.2,P22557_R398C,R,C,398,RC,R398C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000382356,0,0.0130391,0.954625
9030,Q92838,T,M,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.11,,,,,,,,,419335,192,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.86,probably_damaging,0.922,deleterious,0,4.70576,26.1,Q92838_T336M,T,M,336,TM,T336M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00782494,0,0.266846,0.936546
9031,Q92838,A,T,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,419367,160,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.89,probably_damaging,0.997,deleterious,0,5.27048,33,Q92838_A347T,A,T,347,AT,A347T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00482709,0,0.164614,0.95755
9032,Q92838,Q,E,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.13,,,,,,,,,419394,133,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.92,possibly_damaging,0.571,deleterious,0,4.64116,25.5,Q92838_Q356E,Q,E,356,QE,Q356E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,,,,,,,,,,,,0.0101855,0,0.347345,0.949331
9057,P08034,P,S,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.12,,,,,,,,,1015,261,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.61,probably_damaging,1,deleterious,0,3.94787,20.2,P08034_P172S,P,S,172,PS,P172S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.15,-3.306,2.156,0.075,T,A,0.25,-1.3,2.03,,82.69,0.000689613,0,0.0235172,0.620155
9069,P36021,L,P,512,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,108552,4563,ENSG00000147100,ENST00000276033,CCDS14426.1,SLC16A2,0.84,probably_damaging,0.994,deleterious,0,4.41647,23.4,P36021_L512P,L,P,512,LP,L512P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
9333,P29400,G,D,629,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.01,,,,,,,,,16316,28462,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.37,,,deleterious,0,4.25789,22.2,P29400_G629D,G,D,629,GD,G629D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,,,,,,,,8.33e-05,0,0.00284195,0.815326
9486,O60880,R,T,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.08,,,,,,,,,148,24752,ENSG00000183918,ENST00000360027,CCDS48162.1,SH2D1A,0.26,probably_damaging,1,deleterious,0,4.44314,23.7,O60880_R32T,R,T,32,RT,R32T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.398,-3.157,1.759,0.034,E,B,0.98,-0.57,,,,0.00235698,0,0.080378,0.673392
9656,P22304,S,N,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.04,,,,,,,,,35,714,ENSG00000010404,ENST00000370443,,IDS,0.23,probably_damaging,0.936,deleterious,0.03,4.28495,22.4,P22304_S71N,S,N,71,SN,S71N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.146,-3.04,1.894,,,,,,,,,0.00289284,0,0.098652,0.883952
9672,Q15738,Q,X,210,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.57,0.11,,,,,,,,,34906,1745,ENSG00000147383,ENST00000440023,CCDS14717.1,NSDHL,0.56,,,,,4.68924,25.9,Q15738_Q210X,Q,X,210,QX,Q210X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00426537,0,0.145458,0.944376
9728,P51608,L,V,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.09,,,,,,,,,1893,88,ENSG00000169057,ENST00000407218,,MECP2,0.58,probably_damaging,0.994,tolerated,0.1,3.79988,19.29,P51608_L100V,L,V,100,LV,L100V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.039,-2.671,1.632,0.182,B,B,0.11,0,,,,0.00216932,0.00259067,0.0739781,0.848726
9752,P50402,P,T,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,414,24,ENSG00000102119,ENST00000369842,CCDS14745.1,EMD,0.72,probably_damaging,0.996,tolerated,0.35,0.754931,7.999,P50402_P183T,P,T,183,PT,P183T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-2.018,-2.156,0.138,,,,,,18.298,18.298,87.4,0.00892026,0,0.304199,0.973281
9753,P50402,P,H,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.07,,,,,,,,,415,25,ENSG00000102119,ENST00000369842,CCDS14745.1,EMD,0.72,probably_damaging,0.998,deleterious,0.01,2.03849,12.77,P50402_P183H,P,H,183,PH,P183H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-2.018,-4.583,2.565,,,,,,4.119,,87.4,0.00892026,0,0.304199,0.822976
9807,O60832,P,L,409,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.57,0.03,,,,,,,,,327,455,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0.8,probably_damaging,0.974,deleterious,0,4.59767,25,O60832_P409L,P,L,409,PL,P409L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,,,,,,,,,0.00202221,0,0.0689615,0.801446
14,Q9P202,P,A,562,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.05,0.089,0.026,0.122,0.07,0.01,0.1,0.02,0.12,18111,5880,ENSG00000095397,ENST00000362057,CCDS6806.1,DFNB31,0.62,benign,0.161,deleterious,0,1.63942,11.44,Q9P202_P562A,P,A,562,PA,P562A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.486,-3.103,1.617,,,,,,9.54,,87.1,0.000945634,0,0.0373978,0.975968
31,Q9HC10,C,G,1251,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.04,0.014,0.003,0.02,0.01,,0.01,0.002,0.02,910,300,ENSG00000115155,ENST00000403946,,OTOF,0.63,benign,0,tolerated,0.46,-0.886171,0.467,Q9HC10_C1251G,C,G,1251,CG,C1251G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-2.926,-2.685,-0.241,,,,,,46.901,46.901,92.54,,,,0.97998
32,Q9HC10,D,E,1322,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.04,0.001,0,0.001,0.001,,,,0.001,7393,13446,ENSG00000115155,ENST00000403946,,OTOF,0.66,probably_damaging,0.952,tolerated,0.36,1.5869,11.26,Q9HC10_D1322E,D,E,1322,DE,D1322E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.531,-2.039,0.508,,,,,,24.143,24.143,30.45,,,,0.927167
47,Q9H251,P,L,140,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.09,0.254,0.24,0.261,0.34,0.52,0.3,0.27,0.27,2339,16702,ENSG00000107736,ENST00000398788,CCDS53540.1,CDH23,0.13,probably_damaging,0.943,deleterious,0,4.30476,22.5,Q9H251_P140L,P,L,140,PL,P140L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
61,Q96SN8,E,G,910,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.07,,,,,,,,,38889,3038,ENSG00000136861,ENST00000416449,,CDK5RAP2,0.71,benign,0.294,tolerated,0.16,2.49333,14.3,Q96SN8_E910G,E,G,910,EG,E910G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.246,-2.368,1.122,,,,,,39.835,39.835,78.55,,,,0.896853
146,Q15049,N,K,218,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.11,0.003,0.001,0.004,0.004,,0.01,,0.01,409,3734,ENSG00000100427,ENST00000311597,CCDS14083.1,MLC1,0.58,probably_damaging,0.998,deleterious,0,3.05681,16.2,Q15049_N218K,N,K,218,NK,N218K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.072,-3.285,2.213,,,,,,3.051,,67.11,0.00220755,0,0.0873038,0.857019
164,Q02643,T,I,6,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.05,0.052,0.111,0.022,0.04,0.002,0.03,0.13,0.03,31,2077,ENSG00000106128,ENST00000409316,,GHRHR,0.04,,,,,1.04499,9.268,Q02643_T6I,T,I,6,TI,T6I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00154929,0.00719425,0.061271,0.912559
189,P49748,P,L,65,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.07,0.034,0.099,0,0.03,,0.01,0.13,,81,158,ENSG00000072778,ENST00000356839,CCDS11090.1,ACADVL,0.1,benign,0.012,tolerated,0.18,2.26346,13.53,P49748_P65L,P,L,65,PL,P65L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-2.035,-2.891,0.856,,,,,,30.959,30.959,84.89,0.00176781,0.00338983,0.0699131,0.970577
232,P21817,A,T,4935,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.05,,,,,,,,,152252,1613,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.98,,,,,2.00284,12.65,P21817_A4935T,A,T,4935,AT,A4935T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,,,,0.956543
239,P21817,G,S,4633,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.05,,,,,,,,,138484,15381,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.92,,,,,3.62997,18.47,P21817_G4633S,G,S,4633,GS,G4633S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,,,,0.954663
241,P21817,G,R,4886,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.13,,,,,,,,,151267,2598,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,3.28802,17.04,P21817_G4886R,G,R,4886,GR,G4886R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
242,P21817,G,V,4892,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.13,,,,,,,,,151286,2579,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,3.12135,16.43,P21817_G4892V,G,V,4892,GV,G4892V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,,,,0.944066
246,P21817,I,M,4933,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.05,,,,,,,,,152248,1617,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.98,,,,,-0.087487,3.572,P21817_I4933M,I,M,4933,IM,I4933M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.2,-2.588,1.388,,,,,,0.919,0.919,8.04,,,,0.858891
260,P21817,R,G,4888,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.15,,,,,,,,,151273,2592,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,1.91543,12.36,P21817_R4888G,R,G,4888,RG,R4888G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,,,,0.902988
261,P21817,R,Q,4888,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.15,,,,,,,,,151274,2591,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,3.95954,20.3,P21817_R4888Q,R,Q,4888,RQ,R4888Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
262,P21817,R,P,4888,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.15,,,,,,,,,151274,2591,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,3.26868,16.97,P21817_R4888P,R,P,4888,RP,R4888P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,,,,0.914096
280,P20062,R,P,232,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.04,0.633,0.765,0.566,0.59,0.46,0.58,0.77,0.57,70,2095,ENSG00000185339,ENST00000407817,CCDS54519.1,TCN2,0.58,benign,0,tolerated,1,-0.931342,0.376,P20062_R232P,R,P,232,RP,R232P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,,,,0.914096
301,P07902,N,D,205,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.05,0.072,0.029,0.093,0.05,0.02,0.06,0.02,0.1,523,315,ENSG00000213930,ENST00000450095,,GALT,0.76,benign,0,tolerated,0.74,0.357315,5.939,P07902_N205D,N,D,205,ND,N205D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,,,,,,,,,,,,0.00347128,0,0.137281,0.979081
315,P04000,S,A,43,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.05,,,,,,,,,126,3332,ENSG00000102076,ENST00000442922,,OPN1LW,0.26,benign,0.051,tolerated,1,-1.67761,0.012,P04000_S43A,S,A,43,SA,S43A,Polar,Hydrophobic,5.68,6,0.32,105,89,-16,89,88.6,-0.4,99,,,,,,,,,,,,0.00207252,0,0.0819639,0.967894
361,O95255,I,V,319,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.01,,,,,,,,,19982,1453,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.21,benign,0.004,tolerated,0.68,-0.606814,1.294,O95255_I319V,I,V,319,IV,I319V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-2.155,-1.951,-0.204,,,,,,25.114,25.114,92.75,0.000677762,0,0.026804,1.0255
364,O95255,R,W,1064,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.07,0.017,0.004,0.024,0.01,,0.003,,0.03,57696,15606,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.71,probably_damaging,0.937,deleterious,0.01,3.82401,19.42,O95255_R1064W,R,W,1064,RW,R1064W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.782,-5.651,3.869,,,,,,0.766,,27.15,0.000703001,0,0.0278022,0.832033
365,O95255,R,K,724,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.01,0.018,0.029,0.012,0.01,,0.003,0.03,0.01,40947,783,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.48,benign,0.06,tolerated,0.8,-0.86537,0.514,O95255_R724K,R,K,724,RK,R724K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,-2.085,-2.235,0.15,,,,,,21.864,21.864,85.63,0.000850426,0,0.0336325,1.02346
401,O15118,P,S,237,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.58,0.03,0.012,0.003,0.016,0.01,,,0.002,0.02,61,20673,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.19,benign,0.004,tolerated,0.35,1.63565,11.43,O15118_P237S,P,S,237,PS,P237S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.99,-2.939,0.949,0.406,.,b,0.25,1.05,15.866,15.866,72.14,0.000789602,0,0.031227,0.965486
54,P42898,R,C,418,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,0,0,0,,,,,,8480,6472,ENSG00000177000,ENST00000376585,,MTHFR,0.6,probably_damaging,1,deleterious,0,4.17951,21.6,P42898_R418C,R,C,418,RC,R418C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00327639,0,0.111732,0.929023
60,O95140,H,D,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,17003,16194,ENSG00000116688,ENST00000235329,CCDS30587.1,MFN2,0.22,probably_damaging,0.975,deleterious,0.01,4.19448,21.7,O95140_H165D,H,D,165,HD,H165D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,-1.433,-3.204,1.771,,,,,,,,,,,,0.854225
73,P51801,Y,H,432,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,780,5765,ENSG00000184908,ENST00000375679,CCDS168.1,CLCNKB,0.63,possibly_damaging,0.834,deleterious,0,2.84826,15.49,P51801_Y432H,Y,H,432,YH,Y432H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.664,-4.254,2.59,,,,,,1.57,,91.85,0.00123463,0,0.0421034,0.872842
91,Q9BXM7,H,Q,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,983,1869,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.47,probably_damaging,0.991,deleterious,0,4.11679,21.2,Q9BXM7_H271Q,H,Q,271,HQ,H271Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.21,-3.491,2.281,,,,,,,,,0.00140424,0,0.0478873,0.757534
122,P29323,D,N,673,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,0.005,0.001,0.007,0.002,,0.003,,0.01,131675,6891,ENSG00000133216,ENST00000374627,,EPHB2,0.71,probably_damaging,1,deleterious,0.03,5.49963,35,P29323_D673N,D,N,673,DN,D673N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.000241015,0,0.00821912,1.00248
154,Q9NTQ9,R,H,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,1578,108,ENSG00000189433,ENST00000339480,CCDS383.1,GJB4,0.08,probably_damaging,0.998,deleterious,0,4.8252,27.4,Q9NTQ9_R22H,R,H,22,RH,R22H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.328,-4.271,2.943,,,,,,0.929,,45.49,0.00210547,0,0.071801,0.851821
156,Q9NTQ9,F,L,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,1922,237,ENSG00000189433,ENST00000339480,CCDS383.1,GJB4,0.52,benign,0.018,tolerated,0.06,2.43408,14.1,Q9NTQ9_F137L,F,L,137,FL,F137L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.552,-2.276,0.724,0.627,H,A,0.03,-0.05,23.152,23.152,61.65,0.00388639,0,0.132534,0.896394
199,P11166,T,I,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,1873,95,ENSG00000117394,ENST00000439722,,SLC2A1,0.86,probably_damaging,1,deleterious,0,4.44154,23.6,P11166_T215I,T,I,215,TI,T215I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00204714,0,0.0698118,0.971247
212,P11166,N,I,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,15591,12920,ENSG00000117394,ENST00000372500,,SLC2A1,0.15,probably_damaging,0.998,deleterious,0,4.47361,23.9,P11166_N34I,N,I,34,NI,N34I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.26,-3.746,2.486,,,,,,,,,0.000594807,0,0.0202841,0.813476
231,P06132,L,F,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,34,3,ENSG00000126088,ENST00000434478,,UROD,0.9,possibly_damaging,0.7,deleterious,0,3.95876,20.3,P06132_L174F,L,F,174,LF,L174F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,0.00472142,0,0.16101,0.968484
239,Q9Y4U1,L,P,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,852,1864,ENSG00000132763,ENST00000401061,CCDS41324.1,MMACHC,0.41,probably_damaging,0.999,deleterious,0,4.5622,24.7,Q9Y4U1_L116P,L,P,116,LP,L116P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,0.321,.,b,1.07,-0.25,,,,0.00240354,0,0.0819658,0.664285
257,Q15392,Y,S,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,1795,462,ENSG00000116133,ENST00000537443,,DHCR24,0.85,probably_damaging,1,deleterious,0,3.71891,18.89,Q15392_Y255S,Y,S,255,YS,Y255S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,,,,,,,,,,,,,,,0.898519
267,Q8NBP7,S,R,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,3794,8736,ENSG00000169174,ENST00000452118,,PCSK9,0.62,probably_damaging,0.993,deleterious,0.05,2.23505,13.43,Q8NBP7_S127R,S,R,127,SR,S127R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.852,-3.319,1.467,,,,,,13.921,13.921,32.08,0.00149259,0,0.0509005,0.888781
312,P78363,L,R,1201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,0.032,0.094,0,0.02,,0.01,0.09,,81085,47211,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.53,benign,0.015,tolerated,0.37,1.86496,12.19,P78363_L1201R,L,R,1201,LR,L1201R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.208,-3.668,2.46,,,,,,,,,,,,0.772039
313,P78363,E,K,1036,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,77713,50583,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.46,benign,0.01,tolerated,0.95,0.710809,7.787,P78363_E1036K,E,K,1036,EK,E1036K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.933,-2.183,0.25,,,,,,22.356,22.356,90.28,,,,0.981091
344,P23109,R,H,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,0.001,0.004,,,,18122,4351,ENSG00000116748,ENST00000353928,,AMPD1,0.57,probably_damaging,1,deleterious,0,5.67494,36,P23109_R425H,R,H,425,RH,R425H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
367,P54868,G,R,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,0,0,0,,,,,,501,4427,ENSG00000134240,ENST00000369406,CCDS905.1,HMGCS2,0.42,probably_damaging,0.998,deleterious,0,4.98326,29.2,P54868_G212R,G,R,212,GR,G212R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,E,b,0.91,-0.76,,,,0.00112623,0,0.0384067,0.49836
378,P48165,R,T,23,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,67,1235,ENSG00000121634,ENST00000240986,CCDS30834.1,GJA8,0.05,probably_damaging,0.976,deleterious,0,3.88754,19.76,P48165_R23T,R,T,23,RT,R23T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.302,-3.292,1.99,,,,,,1.715,,42.49,0.00110191,0,0.0375773,0.853537
384,P48165,I,M,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,0.002,0,0.004,0.002,,,,0.01,740,562,ENSG00000121634,ENST00000240986,CCDS30834.1,GJA8,0.57,benign,0.173,tolerated,0.21,0.108199,4.582,P48165_I247M,I,M,247,IM,I247M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.89,-4.175,2.285,,,,,,2.761,,87.07,0.00372879,0,0.127159,0.885558
407,P17787,V,M,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,3901,8345,ENSG00000160716,ENST00000368476,CCDS1070.1,CHRNB2,0.57,probably_damaging,0.999,deleterious,0,3.42487,17.58,P17787_V287M,V,M,287,VM,V287M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.419,-3.87,2.451,0.467,H,A,0.11,0,1.817,,49.2,0.000630316,0,0.0214951,0.788104
408,P17787,V,L,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,3901,8345,ENSG00000160716,ENST00000368476,CCDS1070.1,CHRNB2,0.57,probably_damaging,0.919,deleterious,0,3.61758,18.41,P17787_V287L,V,L,287,VL,V287L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.419,-2.421,1.002,0.467,H,A,0.11,0,8.246,,49.2,0.000630316,0,0.0214951,0.889617
426,P02545,R,W,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,89,51,ENSG00000160789,ENST00000392353,,LMNA,0.34,probably_damaging,1,deleterious,0,3.98273,20.4,P02545_R168W,R,W,168,RW,R168W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00160099,0,0.0545969,0.910399
434,P02545,R,C,390,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,512,317,ENSG00000160789,ENST00000392353,,LMNA,0.79,probably_damaging,1,deleterious,0,3.71988,18.89,P02545_R390C,R,C,390,RC,R390C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00201176,0,0.0686053,0.937925
473,P50993,I,T,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,13,9543,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.28,probably_damaging,0.995,deleterious,0,4.39693,23.3,P50993_I286T,I,T,286,IT,I286T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.63,-3.103,1.473,0.15,H,A,0.7,-0.52,,,,0.000179145,0,0.00610923,0.748167
483,P50993,L,P,764,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,827,1358,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.75,probably_damaging,0.998,deleterious,0,4.0062,20.5,P50993_L764P,L,P,764,LP,L764P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,0.102,H,A,1.07,-0.39,,,,0.000539955,0,0.0184136,0.574489
525,O60806,S,F,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,179,23086,ENSG00000143178,ENST00000431969,,TBX19,0.19,probably_damaging,0.993,deleterious,0,4.63455,25.4,O60806_S61F,S,F,61,SF,S61F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,,,,0.933289
526,O60806,R,X,119,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.07,0,0,0,,,,,,7512,8780,ENSG00000143178,ENST00000441464,,TBX19,0.42,,,,,5.63576,36,O60806_R119X,R,X,119,RX,R119X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
620,Q13753,C,X,553,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.07,,,,,,,,,42276,12698,ENSG00000058085,ENST00000264144,CCDS1352.1,LAMC2,0.46,,,,,7.001,38,Q13753_C553X,C,X,553,CX,C553X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
687,P45379,R,Q,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,71,21,ENSG00000118194,ENST00000367318,CCDS30969.1,TNNT2,0.32,probably_damaging,0.992,tolerated,0.05,4.96201,28.9,P45379_R92Q,R,Q,92,RQ,R92Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000412757,0,0.0140759,0.995428
728,P49810,D,A,438,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,0,0,0,,,,,,4729,4,ENSG00000143801,ENST00000422240,CCDS44324.1,PSEN2,0.98,probably_damaging,0.97,deleterious,0.01,4.59982,25.1,P49810_D438A,D,A,438,DA,D438A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,,,,,,,,,,,,0.0136316,0,0.464865,0.940367
799,Q96P20,V,M,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,0.007,0.002,0.01,0.01,,0.003,,0.01,5246,1752,ENSG00000162711,ENST00000366496,CCDS44346.1,NLRP3,0.2,benign,0.019,tolerated,0.2,-0.442019,1.948,Q96P20_V200M,V,M,200,VM,V200M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-2.261,-2.403,0.142,,,,,,13.414,13.414,82.82,0.000669583,0,0.0228342,1.02536
808,P23771,R,X,276,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.11,,,,,,,,,5644,10022,ENSG00000107485,ENST00000346208,CCDS7083.1,GATA3,0.62,,,,,8.9328,41,P23771_R276X,R,X,276,RX,R276X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000949258,0,0.0323717,0.908362
817,O14832,Q,K,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,11038,100,ENSG00000107537,ENST00000396913,CCDS41489.1,PHYH,0.32,probably_damaging,1,deleterious,0,5.2601,33,O14832_Q76K,Q,K,76,QK,Q76K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,,,,,,,,,,,,0.00437493,0,0.149194,0.956152
875,P11161,R,W,409,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,2943,1410,ENSG00000122877,ENST00000439032,CCDS7267.1,EGR2,0.86,probably_damaging,0.928,deleterious,0,2.98832,15.97,P11161_R409W,R,W,409,RW,R409W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.442,-5.093,3.651,,,,,,0.664,,89.71,0.00828799,0.0447761,0.282638,0.799063
876,P11161,D,Y,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,2865,943,ENSG00000122877,ENST00000439032,CCDS7267.1,EGR2,0.8,probably_damaging,0.912,deleterious,0,3.52846,18.01,P11161_D383Y,D,Y,383,DY,D383Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.247,-4.228,2.981,,,,,,0.726,,64.5,0.000865596,0,0.0295186,0.825825
896,P14222,V,G,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,92,1824,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.33,benign,0.305,deleterious,0,2.21153,13.35,P14222_V183G,V,G,183,VG,V183G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.806,-3.716,1.91,,,,,,1.718,,81.44,0.0032323,0,0.110228,0.922926
906,Q9H251,R,Q,301,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,0,0,0,,,,,,44778,31189,ENSG00000107736,ENST00000398809,CCDS44429.1,CDH23,0.57,probably_damaging,0.989,deleterious,0,5.08774,31,Q9H251_R301Q,R,Q,301,RQ,R301Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.605,-3.478,1.873,,,,,,5.639,5.639,74.93,,,,0.917105
915,Q9H251,D,N,2205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,396595,22365,ENSG00000107736,ENST00000224721,,CDH23,0.66,probably_damaging,1,deleterious,0.01,4.79764,27.1,Q9H251_D2205N,D,N,2205,DN,D2205N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
916,Q9H251,R,W,949,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,15966,3075,ENSG00000107736,ENST00000398788,CCDS53540.1,CDH23,0.85,probably_damaging,0.995,deleterious,0,4.33649,22.8,Q9H251_R949W,R,W,949,RW,R949W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
940,Q00266,R,H,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,23,2242,ENSG00000151224,ENST00000372213,CCDS7365.1,MAT1A,0.67,probably_damaging,0.986,deleterious,0,5.10275,31,Q00266_R264H,R,H,264,RH,R264H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.692,S,A,1.03,0.85,,,,0.00175574,0,0.0598742,0.746374
941,Q00266,R,C,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,22,2243,ENSG00000151224,ENST00000372213,CCDS7365.1,MAT1A,0.67,probably_damaging,0.998,deleterious,0,3.90419,19.85,Q00266_R264C,R,C,264,RC,R264C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.692,S,A,1.66,0.85,,,,0.00175574,0,0.0598742,0.699217
1000,P02753,G,D,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,260,6568,ENSG00000138207,ENST00000371464,CCDS31249.1,RBP4,0.46,probably_damaging,1,deleterious,0,4.90202,28.2,P02753_G93D,G,D,93,GD,G93D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.985,-3.389,2.404,0.034,E,B,0.46,-0.85,1.656,,56.72,,,,0.550741
1050,P05093,R,H,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,112,866,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.68,probably_damaging,0.993,deleterious,0,3.46694,17.75,P05093_R347H,R,H,347,RH,R347H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.176,-4.147,2.971,,,,,,1.917,,62.6,0.00234009,0,0.0798018,0.856283
1051,P05093,R,C,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,111,865,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.68,probably_damaging,0.997,deleterious,0,2.47742,14.24,P05093_R347C,R,C,347,RC,R347C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.176,-5.004,3.828,,,,,,0.565,,62.6,0.00234009,0,0.0798018,0.806134
1054,P05093,R,Q,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,475,800,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.25,probably_damaging,0.997,deleterious,0,4.44351,23.7,P05093_R125Q,R,Q,125,RQ,R125Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.181,-3.406,2.225,,,,,,2.505,,62.6,0.00133795,0,0.0456267,0.870492
1057,P05093,S,P,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,533,858,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.21,probably_damaging,0.989,deleterious,0,3.89088,19.78,P05093_S106P,S,P,106,SP,S106P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.187,-3.59,2.403,,,,,,1.265,,47.64,0.00301643,0,0.102866,0.85698
1060,P05093,F,C,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,331,928,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.18,probably_damaging,1,deleterious,0,3.72972,18.94,P05093_F93C,F,C,93,FC,F93C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.035,-4.737,3.702,,,,,,,,,0.0013974,0,0.0476541,0.694126
1061,P05093,Y,X,27,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.03,,,,,,,,,134,731,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.05,,,,,3.62283,18.43,P05093_Y27X,Y,X,27,YX,Y27X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000771849,0,0.0263216,0.970188
1186,P51787,L,F,273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,111446,25,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.4,probably_damaging,1,deleterious,0,3.93431,20.1,P51787_L273F,L,F,273,LF,L273F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.409,-3.648,2.239,,,,,,0.446,,32.69,0.000435377,0,0.0148473,0.874284
1192,P51787,A,T,525,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,307466,79337,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.78,probably_damaging,1,deleterious,0.01,4.73783,26.4,P51787_A525T,A,T,525,AT,A525T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,,,,,,,,,0.00154346,0,0.0526352,0.825838
1224,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.58,0.01,,,,,,,,,26,552,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,2.59695,14.64,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1241,P17405,L,P,303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,99,67,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.48,possibly_damaging,0.702,deleterious,0.01,3.43848,17.63,P17405_L303P,L,P,303,LP,L303P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00347722,0,0.11858,0.956264
1263,Q14654,G,D,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,341,280,ENSG00000187486,ENST00000528731,CCDS53606.1,KCNJ11,0.82,probably_damaging,1,tolerated,0.31,3.58594,18.27,Q14654_G247D,G,D,247,GD,G247D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00125523,0,0.042806,0.903207
1264,Q14654,F,I,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,345,276,ENSG00000187486,ENST00000528731,CCDS53606.1,KCNJ11,0.81,probably_damaging,0.999,deleterious,0,4.55305,24.6,Q14654_F246I,F,I,246,FI,F246I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,,,,,,,,,,,,0.0014838,0,0.0506007,0.907176
1274,Q14654,I,L,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,843,51,ENSG00000187486,ENST00000526912,,KCNJ11,0.52,possibly_damaging,0.64,deleterious,0.01,4.24356,22.1,Q14654_I80L,I,L,80,IL,I80L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,0.00275321,0,0.0938902,0.976296
1275,Q14654,C,Y,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,845,49,ENSG00000187486,ENST00000526912,,KCNJ11,0.51,probably_damaging,1,deleterious,0,3.89303,19.79,Q14654_C79Y,C,Y,79,CY,C79Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00150175,0,0.0512128,0.893066
1277,Q14654,V,G,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,744,273,ENSG00000187486,ENST00000528992,,KCNJ11,0.42,probably_damaging,0.965,deleterious,0,3.53133,18.03,Q14654_V65G,V,G,65,VG,V65G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,,,,,,,,,,,,0.000775073,0,0.0264316,0.964992
1285,Q09428,R,W,1493,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,1447,1293,ENSG00000006071,ENST00000389817,CCDS31437.1,ABCC8,0.94,probably_damaging,0.999,deleterious,0.01,3.61417,18.39,Q09428_R1493W,R,W,1493,RW,R1493W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,,,,0.762927
1304,P50461,C,G,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,13798,6205,ENSG00000129170,ENST00000533783,CCDS7848.1,CSRP3,0.3,probably_damaging,1,deleterious,0,3.47551,17.79,P50461_C58G,C,G,58,CG,C58G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.412,-3.319,1.907,0.2,E,B,0.75,0,,,,0.00168677,0,0.0575223,0.795706
1326,P26367,S,X,353,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.03,,,,,,,,,475,899,ENSG00000007372,ENST00000379111,CCDS31451.1,PAX6,0.84,,,,,8.94124,41,P26367_S353X,S,X,353,SX,S353X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00327377,0,0.111642,0.953542
1381,Q9H161,R,P,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,42582,7141,ENSG00000052850,ENST00000329255,CCDS31468.1,ALX4,0.66,probably_damaging,0.938,deleterious,0,4.96724,29,Q9H161_R272P,R,P,272,RP,R272P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.281,-3.657,2.376,,,,,,,,,0.00180466,0,0.0615425,0.756879
1405,Q14896,V,M,1125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,19772,1525,ENSG00000134571,ENST00000545968,CCDS53621.1,MYBPC3,0.88,probably_damaging,0.986,deleterious,0.01,4.30701,22.6,Q14896_V1125M,V,M,1125,VM,V1125M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.343,-3.979,2.636,,,,,,1.074,,59.42,0.00140652,0,0.0479651,0.869255
1461,P11217,W,R,710,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,2093,407,ENSG00000068976,ENST00000377432,CCDS53659.1,PYGM,0.94,probably_damaging,0.995,deleterious,0,3.87822,19.71,P11217_W710R,W,R,710,WR,W710R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.0010292,0,0.035098,0.910076
1463,P11217,E,K,655,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,685,183,ENSG00000068976,ENST00000164139,CCDS8079.1,PYGM,0.78,probably_damaging,0.99,deleterious,0.01,5.58623,35,P11217_E655K,E,K,655,EK,E655K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.404,-2.689,1.285,0.128,H,A,1.3,-0.46,,,,0.000812385,0,0.027704,0.690471
1471,P11217,R,X,50,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.15,0.002,0,0.003,0.001,,,,0.004,224,13362,ENSG00000068976,ENST00000164139,CCDS8079.1,PYGM,0.06,,,,,8.27943,40,P11217_R50X,R,X,50,RX,R50X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0011138,0,0.0379828,0.908362
1498,#N/A,L,P,555,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,15064,1108,ENSG00000256349,ENST00000419755,,CTD-3074O7.11,0.88,possibly_damaging,0.716,tolerated,0.28,1.94078,12.45,#N/A_L555P,L,P,555,LP,L555P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
1509,Q9UBD9,X,R,226,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.58,0.03,,,,,,,,,2500,110,ENSG00000175505,ENST00000312438,CCDS31617.1,CLCF1,1,,,,,1.62001,11.37,Q9UBD9_X226R,X,R,226,XR,X226R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,,,,0.934274
1541,O75197,T,M,535,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,476,3046,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.33,probably_damaging,0.985,deleterious,0,2.56488,14.54,O75197_T535M,T,M,535,TM,T535M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.543,-4.345,2.802,,,,,,1.22,,81.55,0.000342719,0,0.0116874,0.869054
1594,Q9UBM7,T,I,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,1051,6,ENSG00000172893,ENST00000525137,,DHCR7,0.32,possibly_damaging,0.65,deleterious,0.01,3.38553,17.42,Q9UBM7_T78I,T,I,78,TI,T78I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.00302201,0.00251889,0.103057,0.963657
1595,Q9UBM7,Y,C,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,1024,33,ENSG00000172893,ENST00000525137,,DHCR7,0.28,probably_damaging,0.998,deleterious,0,3.50731,17.92,Q9UBM7_Y69C,Y,C,69,YC,Y69C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00275972,0.00246305,0.0941121,0.931936
1606,Q9UBM7,D,V,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,3950,88,ENSG00000172893,ENST00000525346,,DHCR7,0.57,benign,0.039,tolerated,0.15,1.82983,12.08,Q9UBM7_D62V,D,V,62,DV,D62V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.139,-3.489,2.35,,,,,,,,,0.00237798,0,0.081094,0.792893
1607,Q9UBM7,M,R,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,3941,97,ENSG00000172893,ENST00000525346,,DHCR7,0.55,possibly_damaging,0.696,deleterious,0,3.26383,16.95,Q9UBM7_M59R,M,R,59,MR,M59R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.71,-3.443,1.733,,,,,,,,,0.00257759,0,0.0879012,0.88673
1608,Q9UBM7,I,V,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,3937,101,ENSG00000172893,ENST00000525346,,DHCR7,0.54,benign,0.014,tolerated,0.46,0.029621,4.168,Q9UBM7_I58V,I,V,58,IV,I58V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.54,-1.571,0.031,,,,,,19.951,19.951,74.11,0.0024385,0,0.0831579,1.02408
1609,Q9UBM7,P,S,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,3916,122,ENSG00000172893,ENST00000525346,,DHCR7,0.47,probably_damaging,0.931,deleterious,0,2.99165,15.98,Q9UBM7_P51S,P,S,51,PS,P51S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.115,-3.121,2.006,,,,,,,,,0.0018471,0,0.0629898,0.837268
1610,Q9UBM7,A,D,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,3914,124,ENSG00000172893,ENST00000525346,,DHCR7,0.46,probably_damaging,0.959,deleterious,0,2.92754,15.76,Q9UBM7_A50D,A,D,50,AD,A50D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.175,-3.429,2.254,,,,,,,,,0.00219547,0,0.0748702,0.791446
1629,Q13402,Q,X,234,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.13,,,,,,,,,28667,28027,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.2,,,,,8.32072,40,Q13402_Q234X,Q,X,234,QX,Q234X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1767,P14416,V,I,154,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,0,0,0,,,,,,1183,72,ENSG00000149295,ENST00000542968,CCDS8361.1,DRD2,0.35,possibly_damaging,0.52,deleterious,0.05,5.41846,35,P14416_V154I,V,I,154,VI,V154I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.201,-2.437,1.236,,,,,,,,,0.00198255,0,0.067609,0.917567
1784,P02647,L,P,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,154,520,ENSG00000118137,ENST00000375329,,APOA1,0.38,probably_damaging,0.995,deleterious,0,4.14828,21.4,P02647_L92P,L,P,92,LP,L92P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00697772,0,0.237955,0.935171
1786,P02647,L,R,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,244,610,ENSG00000118137,ENST00000375329,,APOA1,0.25,possibly_damaging,0.901,deleterious,0,3.58521,18.26,P02647_L62R,L,R,62,LR,L62R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.318,-4.234,2.916,0.832,S,A,1.75,0,2.504,,77.9,0.00559668,0,0.190858,0.750528
1788,P02647,Q,X,56,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,552,1284,ENSG00000118137,ENST00000236850,CCDS8378.1,APOA1,0.21,,,,,6.39255,37,P02647_Q56X,Q,X,56,QX,Q56X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00427367,0,0.145741,0.944376
1793,Q13651,T,I,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,70,190,ENSG00000110324,ENST00000227752,CCDS8388.1,IL10RA,0.15,probably_damaging,1,deleterious,0,3.65634,18.59,Q13651_T84I,T,I,84,TI,T84I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.018,-3.54,2.522,0.007,G,A,0.7,-0.67,0.708,,23.53,0.00099944,0,0.034083,0.614198
1825,P08397,E,K,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,193,82,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.6,possibly_damaging,0.846,deleterious,0,6.12881,37,P08397_E206K,E,K,206,EK,E206K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.0044637,0,0.152221,0.953125
1837,Q15223,W,X,185,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,133,639,ENSG00000110400,ENST00000340882,CCDS8427.1,PVRL1,0.53,,,,,5.34691,34,Q15223_W185X,W,X,185,WX,W185X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
1876,Q9H4A3,Q,X,73,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,252,1149,ENSG00000060237,ENST00000574564,,WNK1,0.17,,,,,2.66719,14.88,Q9H4A3_Q73X,Q,X,73,QX,Q73X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1885,Q9GZV9,S,F,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,9016,2486,ENSG00000118972,ENST00000237837,CCDS8526.1,FGF23,0.51,probably_damaging,1,deleterious,0,1.96054,12.51,Q9GZV9_S129F,S,F,129,SF,S129F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.41,-2.404,0.994,0.032,.,B,0.85,-0.24,22.882,22.882,59.36,0.00144177,0,0.0491672,0.725814
1909,P04275,I,T,1628,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,3392,994,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.58,probably_damaging,0.998,deleterious,0,3.76632,19.12,P04275_I1628T,I,T,1628,IT,I1628T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.147,-3.4,2.253,,E,b,0.7,-0.73,7.565,,92.11,3.84e-05,0,0.00131101,0.676194
1919,P04275,S,F,1285,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,2363,36,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.46,probably_damaging,1,deleterious,0,4.63616,25.4,P04275_S1285F,S,F,1285,SF,S1285F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-0.949,-4.072,3.123,0.008,B,B,0.85,-0.88,0.646,,28.3,3.88e-05,0,0.00132297,0.596323
1932,P19438,C,F,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,375,80,ENSG00000067182,ENST00000366159,,TNFRSF1A,0.37,probably_damaging,1,deleterious,0,2.93218,15.77,P19438_C81F,C,F,81,CF,C81F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.111,-3.923,2.812,0.486,E,B,0.12,-1.01,,,,0.000622659,0,0.021234,0.634953
1938,P37088,S,L,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,906,115,ENSG00000111319,ENST00000540037,,SCNN1A,0.71,possibly_damaging,0.89,deleterious,0,4.66337,25.7,P37088_S262L,S,L,262,SL,S262L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00140854,0,0.0480341,0.898686
1942,P37088,R,C,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,261,53,ENSG00000111319,ENST00000536788,,SCNN1A,0.64,probably_damaging,0.997,deleterious,0.04,3.9147,19.91,P37088_R102C,R,C,102,RC,R102C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00096186,0,0.0328014,0.887012
2020,P02458,G,D,1305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,2611,519,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.88,,,deleterious,0,4.19995,21.8,P02458_G1305D,G,D,1305,GD,G1305D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.741,-3.344,2.603,,,,,,,,,0.000505596,0,0.0172419,0.80587
2035,P02458,L,F,667,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,421,2092,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.45,probably_damaging,0.956,deleterious,0.02,4.49969,24.2,P02458_L667F,L,F,667,LF,L667F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.344,-3.498,2.154,,,,,0,0.385,,10.89,0.000120755,0,0.00411801,0.711157
2042,P02458,G,R,354,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,14553,16362,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.24,,,deleterious,0,3.74286,19,P02458_G354R,G,R,354,GR,G354R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.008,-3.615,2.607,,,,,0,,,,3.58e-05,0,0.00122109,0.648386
2046,P02458,G,D,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,9882,21033,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.18,,,deleterious,0,3.5351,18.04,P02458_G267D,G,D,267,GD,G267D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.008,-3.15,2.142,,,,,0,,,,3.75e-05,0,0.00127841,0.701999
2050,P02458,W,X,47,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.07,,,,,,,,,4252,373,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.03,,,,,5.43413,35,P02458_W47X,W,X,47,WX,W47X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000228706,0,0.00779934,0.956807
2074,P41181,R,C,229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,1463,24,ENSG00000167580,ENST00000550862,,AQP2,0.94,probably_damaging,1,deleterious,0,4.44972,23.7,P41181_R229C,R,C,229,RC,R229C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00749274,0,0.255518,0.879751
2098,P04259,E,K,472,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,4339,1137,ENSG00000185479,ENST00000252252,CCDS8828.1,KRT6B,0.84,probably_damaging,0.956,deleterious,0.01,3.04345,16.16,P04259_E472K,E,K,472,EK,E472K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.245,-2.192,0.947,,,,,,20.142,20.142,72.7,,,,0.98098
2101,P02538,F,V,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,41,2692,ENSG00000205420,ENST00000330722,CCDS41786.1,KRT6A,0.31,probably_damaging,0.998,deleterious,0,4.92525,28.5,P02538_F174V,F,V,174,FV,F174V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.112,-2.522,1.41,,,,,,4.673,1.575,48.76,0.000623322,0,0.0212566,0.945047
2105,P13647,K,X,180,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.09,,,,,,,,,466,29,ENSG00000186081,ENST00000548409,,KRT5,0.9,,,,,5.14874,32,P13647_K180X,K,X,180,KX,K180X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000640442,0,0.0218404,0.98231
2108,P13647,N,K,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,194,264,ENSG00000186081,ENST00000548409,,KRT5,0.18,probably_damaging,0.93,deleterious,0,4.17702,21.6,P13647_N37K,N,K,37,NK,N37K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.000346428,0,0.0118139,0.985913
2134,P05783,H,L,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,0,0,0,,,,,,221,340,ENSG00000111057,ENST00000388835,CCDS31809.1,KRT18,0.3,benign,0.166,tolerated,0.11,1.90504,12.33,P05783_H128L,H,L,128,HL,H128L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-2.14,-3.316,1.176,,,,,,5.441,,88.37,0.0034226,0,0.116718,0.964252
2135,Q9NRG9,R,X,445,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,1141,41,ENSG00000094914,ENST00000394384,CCDS53797.1,AAAS,0.87,,,,,5.66099,36,Q9NRG9_R445X,R,X,445,RX,R445X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00269943,0,0.092056,0.951177
2161,O15528,R,P,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,1176,35,ENSG00000111012,ENST00000228606,CCDS8954.1,CYP27B1,0.66,probably_damaging,0.962,deleterious,0,3.48936,17.85,O15528_R335P,R,P,335,RP,R335P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.429,-3.744,2.315,,,,,,1.377,,73.82,0.00314934,0,0.107399,0.838133
2197,P05019,V,M,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,59015,2146,ENSG00000017427,ENST00000424202,CCDS44960.1,IGF1,0.55,possibly_damaging,0.898,deleterious,0,5.31363,34,P05019_V76M,V,M,76,VM,V76M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00427224,0,0.145692,0.971869
2219,P00439,R,Q,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,0.001,0,0.001,,,,,,541,9161,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.58,probably_damaging,0.998,deleterious,0,5.96904,36,P00439_R261Q,R,Q,261,RQ,R261Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.209,T,L,0.56,-1.14,,,,0.000765496,0,0.026105,0.675662
2220,P00439,R,X,261,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.08,,,,,,,,,540,9162,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.58,,,,,10.1913,43,P00439_R261X,R,X,261,RX,R261X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000765496,0,0.026105,0.977351
2221,P00439,A,V,259,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,535,9167,ENSG00000171759,ENST00000553106,CCDS9092.1,PAH,0.57,probably_damaging,0.984,deleterious,0,5.77836,36,P00439_A259V,A,V,259,AV,A259V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,H,A,0.44,-1.11,,,,0.000304636,0,0.0103887,0.729715
2249,Q9HBA0,A,S,669,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,26335,4841,ENSG00000111199,ENST00000392719,CCDS53828.1,TRPV4,0.81,probably_damaging,0.999,deleterious,0.02,4.8833,28,Q9HBA0_A669S,A,S,669,AS,A669S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,,,,,,,,,,,,0.00145916,0,0.0497604,0.913051
2322,P32754,Y,X,200,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.11,0,0,0,,,,,,2581,354,ENSG00000158104,ENST00000289004,CCDS9224.1,HPD,0.51,,,,,5.25824,33,P32754_Y200X,Y,X,200,YX,Y200X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00103581,0,0.0353231,0.902575
2337,P29033,V,L,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,0,0,0,,,,,,449,1860,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.37,probably_damaging,0.999,deleterious,0,5.30674,34,P29033_V84L,V,L,84,VL,V84L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-0.911,-2.813,1.902,0.058,T,A,0.11,-0.73,9.195,,64.6,0.00202438,0,0.0690355,0.787352
2338,P29033,V,M,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,449,1860,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.37,probably_damaging,1,deleterious,0,5.02384,29.6,P29033_V84M,V,M,84,VM,V84M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-0.911,-4.189,3.278,0.058,T,A,0.11,-0.73,2.026,,64.6,0.00202438,0,0.0690355,0.641273
2342,P29033,G,A,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,375,1934,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.26,probably_damaging,0.999,deleterious,0,4.57426,24.8,P29033_G59A,G,A,59,GA,G59A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.572,-2.911,2.339,,T,A,0.29,-1.35,,,,0.000675123,0,0.0230231,0.587265
2343,P29033,G,S,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,374,1935,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.26,probably_damaging,1,deleterious,0,5.10605,32,P29033_G59S,G,S,59,GS,G59S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.572,-3.219,2.647,,T,A,0.02,-1.35,,,,0.000675123,0,0.0230231,0.601812
2344,P29033,Q,X,57,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.08,0,0,0,,,,,,368,1941,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.25,,,,,6.42898,37,P29033_Q57X,Q,X,57,QX,Q57X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00125642,0,0.0428464,0.904853
2386,Q9Y619,L,Q,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,6055,8166,ENSG00000102743,ENST00000338625,CCDS9373.1,SLC25A15,0.24,probably_damaging,0.998,deleterious,0,3.85561,19.59,Q9Y619_L71Q,L,Q,71,LQ,L71Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.117,-3.901,2.784,,,,,,,,,0.00475844,0,0.162273,0.765155
2478,P02462,G,D,720,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,125824,32355,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0.43,probably_damaging,0.997,deleterious,0,3.19515,16.7,P02462_G720D,G,D,720,GD,G720D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.544,-3.649,3.105,,,,,,0.328,,8.81,0.000341807,0,0.0116563,0.766295
2492,P03950,Q,L,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,4889,191,ENSG00000214274,ENST00000336811,CCDS9554.1,ANG,0.24,probably_damaging,0.909,deleterious,0,1.70652,11.67,P03950_Q36L,Q,L,36,QL,Q36L,Polar,Hydrophobic,6.24,9.71,3.47,146,131,-15,143.8,166.7,22.9,113,-1.617,-3.45,1.833,0.188,H,A,1.19,-0.08,3.444,,76.19,0.00801729,0,0.273406,0.860957
2560,P22735,G,D,392,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,1501,3204,ENSG00000092295,ENST00000206765,CCDS9622.1,TGM1,0.48,probably_damaging,0.999,deleterious,0,4.409,23.4,P22735_G392D,G,D,392,GD,G392D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,,,,,0.000246859,0,0.00841842,0.809106
2564,P22735,R,Q,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,200,4505,ENSG00000092295,ENST00000206765,CCDS9622.1,TGM1,0.35,probably_damaging,0.962,deleterious,0,5.11512,32,P22735_R286Q,R,Q,286,RQ,R286Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.00124703,0,0.0425262,0.770795
2566,P22735,G,S,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,397,5101,ENSG00000092295,ENST00000206765,CCDS9622.1,TGM1,0.27,probably_damaging,0.999,deleterious,0,5.85488,36,P22735_G218S,G,S,218,GS,G218S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,,,,,,,,,0.000532618,0,0.0181634,0.836772
2568,P22735,R,H,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.17,,,,,,,,,1406,24,ENSG00000092295,ENST00000206765,CCDS9622.1,TGM1,0.18,probably_damaging,0.996,deleterious,0,3.72477,18.92,P22735_R143H,R,H,143,RH,R143H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.331,-4.193,2.862,,,,,,0.906,,73.07,0.000270811,0,0.00923521,0.865411
2653,P11277,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.58,0.05,,,,,,,,,1,56394,ENSG00000070182,ENST00000389721,CCDS32100.1,SPTB,0,benign,0.211,deleterious,0,3.43576,17.62,P11277_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.713,-2.798,1.085,,,,,,4.452,,62.24,0.000322856,0,0.0110101,0.96376
2661,Q96NR8,T,I,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,169,379,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.49,probably_damaging,1,deleterious,0.01,4.82067,27.3,Q96NR8_T155I,T,I,155,TI,T155I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.067,-3.377,2.31,,,,,,,,,0.00086738,0,0.0295795,0.827551
2728,P16473,V,A,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.15,,,,,,,,,26831,2719,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.67,probably_damaging,0.998,deleterious,0,2.837,15.45,P16473_V509A,V,A,509,VA,V509A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-0.897,-3.135,2.238,,,,,,3.25,,69.24,0.00106466,0,0.0363069,0.866202
2730,P16473,W,X,546,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.08,0,0,0.001,,,,,,26720,2608,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.71,,,,,4.75737,26.6,P16473_W546X,W,X,546,WX,W546X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000288625,0,0.00984272,0.956807
2745,Q9UBX5,R,W,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,0,0,0,,,,,,422,7394,ENSG00000140092,ENST00000556154,,FBLN5,0.79,probably_damaging,0.995,deleterious,0,4.73252,26.4,Q9UBX5_R356W,R,W,356,RW,R356W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
2751,Q9UBX5,R,Q,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,9961,61,ENSG00000140092,ENST00000556154,,FBLN5,0.17,probably_damaging,0.983,deleterious,0.01,5.54707,35,Q9UBX5_R76Q,R,Q,76,RQ,R76Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
2771,P28472,R,H,273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,321,20,ENSG00000166206,ENST00000541819,,GABRB3,0.52,benign,0.028,tolerated,0.67,2.01725,12.7,P28472_R273H,R,H,273,RH,R273H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000615726,0,0.0209975,1.00233
2772,Q04671,P,L,743,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,228143,116295,ENSG00000104044,ENST00000354638,CCDS10020.1,OCA2,0.89,probably_damaging,1,deleterious,0,3.45955,17.72,Q04671_P743L,P,L,743,PL,P743L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,0.00197374,0,0.0673086,0.793484
2801,Q8NCH0,R,P,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,765,1278,ENSG00000169105,ENST00000306243,CCDS10059.1,CHST14,0.57,probably_damaging,1,deleterious,0,5.15759,32,Q8NCH0_R213P,R,P,213,RP,R213P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.281,-3.657,2.376,,,,,,,,,0.000499444,0,0.0170321,0.792919
2802,Q8NCH0,Y,C,293,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,1005,1038,ENSG00000169105,ENST00000306243,CCDS10059.1,CHST14,0.78,probably_damaging,1,deleterious,0,4.15086,21.4,Q8NCH0_Y293C,Y,C,293,YC,Y293C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,,,,,,,,,0.00104455,0,0.0356212,0.703018
2808,P20807,R,Q,442,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,636,2534,ENSG00000092529,ENST00000349748,CCDS10085.1,CAPN3,0.61,probably_damaging,0.995,deleterious,0,5.11702,32,P20807_R442Q,R,Q,442,RQ,R442Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000788243,0,0.0268807,0.995654
2809,P20807,R,Q,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,173,1317,ENSG00000092529,ENST00000567071,,CAPN3,0.31,probably_damaging,1,deleterious,0,5.58435,35,P20807_R59Q,R,Q,59,RQ,R59Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00133907,0.00131234,0.045665,0.918197
2821,P16452,A,T,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,0.001,0.002,,,,3,6901,ENSG00000166947,ENST00000568508,,EPB42,0.12,probably_damaging,0.998,deleterious,0,4.25479,22.2,P16452_A65T,A,T,65,AT,A65T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000637612,0,0.0217439,0.995499
2827,Q9NRD8,R,X,434,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.04,,,,,,,,,4568,9858,ENSG00000140279,ENST00000389039,CCDS10117.1,DUOX2,0.28,,,,,9.00949,41,Q9NRD8_R434X,R,X,434,RX,R434X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2936,P05108,V,E,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,555,827,ENSG00000140459,ENST00000358632,CCDS45303.1,CYP11A1,0.71,probably_damaging,1,deleterious,0,3.74251,19,P05108_V257E,V,E,257,VE,V257E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,,,,,,,,,,,,0.00251922,0,0.0859108,0.972492
2963,#N/A,D,N,2343,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,932,548,ENSG00000157766,ENST00000559004,,ACAN,0.94,probably_damaging,0.983,deleterious,0.02,5.56415,35,#N/A_D2343N,D,N,2343,DN,D2343N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
2965,P12271,M,K,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,0,0,0,,,,,,94,1000,ENSG00000140522,ENST00000268125,CCDS32324.1,RLBP1,0.71,probably_damaging,0.978,tolerated,0.09,4.44983,23.7,P12271_M226K,M,K,226,MK,M226K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.71,-3.192,1.482,0.006,H,A,2.89,-1.12,,,,0.0049695,0,0.16947,0.582623
2979,P54098,S,N,511,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,274,49,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.41,benign,0.026,tolerated,0.49,0.975879,8.983,P54098_S511N,S,N,511,SN,S511N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-2.106,-2.704,0.598,,,,,,27.863,27.863,87.97,0.000695192,0,0.0237075,1.01687
2981,P54098,L,R,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,357,2042,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.25,probably_damaging,0.988,deleterious,0,4.87797,28,P54098_L304R,L,R,304,LR,L304R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.483,-4.221,2.738,,,,,,3.502,,82.97,0.000583972,0,0.0199147,0.86342
3021,P49815,W,X,404,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,43,486,ENSG00000103197,ENST00000439673,,TSC2,0.24,,,,,7.87807,39,P49815_W404X,W,X,404,WX,W404X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
3025,P49815,L,R,680,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,303,396,ENSG00000103197,ENST00000439673,,TSC2,0.4,probably_damaging,0.997,deleterious,0,3.64772,18.55,P49815_L680R,L,R,680,LR,L680R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,,,,0.946893
3084,Q99732,G,S,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,0,0,0,,,,,,2869,153,ENSG00000189067,ENST00000339430,CCDS32386.1,LITAF,0.7,probably_damaging,1,deleterious,0,3.56173,18.16,Q99732_G112S,G,S,112,GS,G112S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,0.00867006,0.0204082,0.295667,0.79262
3133,O95255,W,X,1223,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,63886,9416,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.81,,,,,8.48333,40,O95255_W1223X,W,X,1223,WX,W1223X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000601526,0,0.0205133,0.956807
3134,O95255,R,H,1221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,63880,9422,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.81,possibly_damaging,0.669,deleterious,0.02,4.75757,26.6,O95255_R1221H,R,H,1221,RH,R1221H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.008,-3.106,2.098,,,,,,15.311,15.311,34.46,0.00030593,0,0.0104328,0.880144
3135,O95255,R,C,1221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,63879,9423,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.81,probably_damaging,0.992,deleterious,0,3.83758,19.49,O95255_R1221C,R,C,1221,RC,R1221C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.008,-5.28,4.272,,,,,,0.688,,34.46,0.00030593,0,0.0104328,0.778728
3144,O95255,R,W,1138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,0,0,0,,,,,,60348,12954,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.76,probably_damaging,1,deleterious,0,3.7965,19.28,O95255_R1138W,R,W,1138,RW,R1138W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.837,-5.478,4.641,,,,,,0.321,,30.34,0.000144166,0,0.00491637,0.81011
3152,O95255,R,C,1114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,0,0,0,,,,,,60276,13026,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.74,probably_damaging,0.999,deleterious,0,4.1421,21.4,O95255_R1114C,R,C,1114,RC,R1114C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-0.892,-5.209,4.317,,,,,,1.085,,30.34,0.000269154,0,0.0091787,0.790191
3172,O95255,A,A,830,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.58,0.07,0.188,0.25,0.157,0.16,0.08,0.16,0.25,0.16,31,4470,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.55,,,,,0.182846,4.985,O95255_A830A,A,A,830,AA,A830A,Hydrophobic,Hydrophobic,6,6,0,89,89,0,88.6,88.6,0,0,,,,,,,,,,,,0.00062491,0,0.0213107,1.00426
3176,O95255,V,M,810,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,93,4532,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.54,probably_damaging,0.994,deleterious,0,4.36111,23,O95255_V810M,V,M,810,VM,V810M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-0.904,-4.32,3.416,0.008,E,B,0.11,-1.09,1.86,,53.23,0.000321317,0,0.0109576,0.639908
3177,O95255,R,Q,807,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,101,4540,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.54,probably_damaging,0.936,deleterious,0.02,5.12655,32,O95255_R807Q,R,Q,807,RQ,R807Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.993,-2.875,1.882,0.034,E,B,0.56,-0.39,9.593,9.593,44.84,0.000273249,0,0.00931835,0.729764
3178,O95255,R,W,807,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,102,4541,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.54,probably_damaging,1,deleterious,0,4.27371,22.3,O95255_R807W,R,W,807,RW,R807W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.993,-5.55,4.557,0.034,E,B,1.67,-0.39,0.298,,44.84,0.000273249,0,0.00931835,0.498012
3189,O95255,L,P,726,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,40953,777,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.48,probably_damaging,0.998,deleterious,0,2.49977,14.32,O95255_L726P,L,P,726,LP,L726P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.417,-4.339,2.922,,,,,,1.443,,57.49,0.000875045,0,0.0298408,0.833528
3190,O95255,V,V,725,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.58,0.01,0.026,0.052,0.013,0.02,,0.01,0.06,0.01,40951,779,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.48,,,,,-0.704043,0.959,O95255_V725V,V,V,725,VV,V725V,Hydrophobic,Hydrophobic,5.61,5.61,0,117,117,0,140,140,0,0,,,,,,,,,,,,0.000594912,0,0.0202877,1.00426
3192,O95255,E,D,699,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,40873,857,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.47,probably_damaging,0.952,deleterious,0.01,3.49284,17.86,O95255_E699D,E,D,699,ED,E699D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-2.038,-3.578,1.54,,,,,,2.765,,77.78,0.00036668,0,0.0125045,0.970131
3193,O95255,Q,P,698,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,40869,861,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.46,probably_damaging,1,deleterious,0,4.17978,21.6,O95255_Q698P,Q,P,698,QP,Q698P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-0.804,-3.847,3.043,0.569,S,A,0.12,-1.29,2.259,,83.3,0.000159553,0,0.00544109,0.664371
3207,O95255,M,T,562,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,34510,7220,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.37,possibly_damaging,0.648,deleterious,0,3.93337,20.1,O95255_M562T,M,T,562,MT,M562T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.308,-3.662,1.354,,,,,,4.168,,83.5,0.000192483,0,0.00656405,0.977311
3213,O95255,L,H,495,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,33120,8610,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.33,probably_damaging,0.989,deleterious,0,2.9468,15.82,O95255_L495H,L,H,495,LH,L495H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-0.798,-5.079,4.281,,,,,,1.079,,80.64,0.000146825,0,0.00500704,0.825958
3222,O95255,R,W,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,21402,33,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.25,probably_damaging,0.992,deleterious,0,2.64705,14.81,O95255_R382W,R,W,382,RW,R382W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.215,-5.524,4.309,,,,,,1.178,,63.94,0.000572684,0,0.0195297,0.820519
3223,O95255,L,L,381,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.58,0.04,,,,,,,,,21399,36,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.25,,,,,-0.452892,1.902,O95255_L381L,L,L,381,LL,L381L,Hydrophobic,Hydrophobic,9.71,9.71,0,131,131,0,166.7,166.7,0,0,,,,,,,,,,,,0.000587089,0,0.020021,1.00426
3227,O95255,Q,X,363,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.07,,,,,,,,,21345,90,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.24,,,,,5.33243,34,O95255_Q363X,Q,X,363,QX,Q363X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000264554,0,0.00902183,0.98231
3248,P51168,P,T,414,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,0,0,0,,,,,,16419,348,ENSG00000168447,ENST00000307331,,SCNN1B,0.6,benign,0.379,deleterious,0.01,1.36985,10.51,P51168_P414T,P,T,414,PT,P414T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,0.00196075,0,0.0668656,0.978107
3342,Q9Y653,Y,C,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,1599,6,ENSG00000205336,ENST00000568234,,GPR56,0.64,probably_damaging,0.999,deleterious,0,2.60286,14.66,Q9Y653_Y93C,Y,C,93,YC,Y93C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.262,-4.673,3.411,,,,,,1.313,,72.01,0.000504872,0,0.0172172,0.894397
3358,P04180,L,P,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,46,14,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.53,benign,0.252,deleterious,0.03,3.3782,17.39,P04180_L233P,L,P,233,LP,L233P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00406198,0,0.138522,0.77051
3407,P07741,L,P,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,0,0,0,,,,,,128,405,ENSG00000198931,ENST00000426324,CCDS45546.1,APRT,0.82,probably_damaging,0.996,deleterious,0,2.596,14.64,P07741_L110P,L,P,110,LP,L110P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.39,-3.826,2.436,0.007,E,B,1.07,0.34,1.518,,57.22,0.00838059,0,0.285795,0.597059
3423,P34059,D,N,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,727,2074,ENSG00000141012,ENST00000268695,CCDS10970.1,GALNS,0.11,probably_damaging,0.975,deleterious,0,5.39667,34,P34059_D60N,D,N,60,DN,D60N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.057,-3,1.943,,,,,,,,,0.00171027,0,0.0583239,0.837358
3433,Q13509,D,H,294,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,0.016,0.007,0.021,0.01,,0.01,0.002,0.01,973,311,ENSG00000258947,ENST00000555427,,RP11-566K11.2,0.77,probably_damaging,1,deleterious,0,4.67207,25.8,Q13509_D294H,D,H,294,DH,D294H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,,,,,,,,,,,,0.00045812,0,0.0156228,0.991341
3478,P07359,A,V,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,822,1912,ENSG00000185245,ENST00000329125,CCDS54068.1,GP1BA,0.26,possibly_damaging,0.726,deleterious,0.01,3.65221,18.57,P07359_A172V,A,V,172,AV,A172V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.138,-3.155,2.017,,.,B,0.44,-1.27,2.451,,59.47,0.000999749,0,0.0340935,0.625742
3482,P13929,G,D,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,0,0,0,0.001,,,,0.001,704,4,ENSG00000108515,ENST00000518175,CCDS11062.1,ENO3,0.36,probably_damaging,0.998,deleterious,0,5.13027,32,P13929_G156D,G,D,156,GD,G156D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.008,-3.15,2.142,0.023,S,p,0.46,-0.91,,,,0.000662743,0,0.0226009,0.630515
3505,P04637,L,P,344,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,2910,1109,ENSG00000141510,ENST00000269305,CCDS11118.1,TP53,0.88,probably_damaging,0.986,deleterious,0,4.20953,21.9,P04637_L344P,L,P,344,LP,L344P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.311,-4.227,2.916,,,,,,1.381,,93.13,0.005618,0,0.191585,0.838729
3508,P04637,E,V,285,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,179,231,ENSG00000141510,ENST00000420246,CCDS45606.1,TP53,0.84,probably_damaging,0.989,deleterious,0,4.36781,23,P04637_E285V,E,V,285,EV,E285V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,-1.003,-3.711,2.708,0.332,H,A,1.48,0,1.806,,66.16,0.00164656,0,0.0561511,0.726293
3509,P04637,R,W,282,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,0,0,0,,,,,,189,241,ENSG00000141510,ENST00000420246,CCDS45606.1,TP53,0.83,probably_damaging,1,deleterious,0,4.05753,20.8,P04637_R282W,R,W,282,RW,R282W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.022,-5.388,4.366,0.15,H,A,1.67,0,0.405,,69.97,0.00123327,0,0.042057,0.644376
3513,P04637,L,Q,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,606,25,ENSG00000141510,ENST00000413465,,TP53,0.9,probably_damaging,1,deleterious,0,3.01908,16.07,P04637_L257Q,L,Q,257,LQ,L257Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-0.819,-4.193,3.374,,E,B,1.19,0,1.755,,59.29,0.000924929,0,0.031542,0.625447
3514,P04637,L,P,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,621,10,ENSG00000141510,ENST00000413465,,TP53,0.88,probably_damaging,0.999,deleterious,0,2.91872,15.73,P04637_L252P,L,P,252,LP,L252P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.971,-4.205,3.234,0.007,E,B,1.07,0,1.382,,61.07,0.00123638,0,0.042163,0.634394
3524,P04637,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.58,0.07,,,,,,,,,95,16,ENSG00000141510,ENST00000509690,,TP53,0.01,benign,0.125,deleterious,0,3.27439,16.99,P04637_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.438,-3.334,1.896,,,,,,3.176,,63.61,0.00228758,0.00255102,0.0780112,0.937066
3530,Q02846,T,M,839,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,0,0,0,,,,,,12110,5636,ENSG00000132518,ENST00000254854,CCDS11127.1,GUCY2D,0.76,probably_damaging,1,deleterious,0,4.59493,25,Q02846_T839M,T,M,839,TM,T839M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-0.998,-4.336,3.338,,,,,,,,,0.000336465,0,0.0114741,0.813608
3554,Q01453,R,W,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,31611,134,ENSG00000109099,ENST00000395938,CCDS11168.1,PMP22,0.98,probably_damaging,0.988,deleterious,0,3.78387,19.21,Q01453_R157W,R,W,157,RW,R157W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.0742615,0.333333,2.53247,0.769056
3555,Q01453,G,C,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,31590,116,ENSG00000109099,ENST00000395938,CCDS11168.1,PMP22,0.94,probably_damaging,1,deleterious,0,4.02416,20.6,Q01453_G150C,G,C,150,GC,G150C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.861,-4.864,4.003,,,,,,,,,0.0131515,0,0.448492,0.731895
3650,P02533,E,A,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,518,4125,ENSG00000186847,ENST00000167586,CCDS11400.1,KRT14,0.31,possibly_damaging,0.843,deleterious,0.01,4.6412,25.5,P02533_E144A,E,A,144,EA,E144A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-0.881,-2.475,1.594,,,,,,13.501,13.501,46.61,0.000524685,0,0.0178929,0.925168
3656,P08779,R,C,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,444,2532,ENSG00000186832,ENST00000301653,CCDS11401.1,KRT16,0.27,possibly_damaging,0.641,deleterious,0.02,4.76436,26.7,P08779_R127C,R,C,127,RC,R127C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.181,-5.004,3.823,,,,,,0.447,,50.95,0.000995903,0,0.0339623,0.803593
3726,P02730,R,H,589,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,12435,7322,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.65,probably_damaging,1,deleterious,0,4.85282,27.7,P02730_R589H,R,H,589,RH,R589H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.062,-3.219,2.157,,,,,,20.947,20.947,59.17,0.000587108,0,0.0200216,0.879461
3771,P14136,N,Y,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,243,3955,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.18,probably_damaging,1,deleterious,0,4.40487,23.3,P14136_N77Y,N,Y,77,NY,N77Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-1.079,-3.98,2.901,,,,,,,,,0.000602898,0,0.02056,0.790581
3772,P14136,L,F,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,240,3958,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.18,probably_damaging,0.994,deleterious,0,4.7459,26.5,P14136_L76F,L,F,76,LF,L76F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.039,-3.434,2.395,,,,,,,,,0.000736595,0,0.0251194,0.840946
3861,P05164,R,C,531,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,48,2811,ENSG00000005381,ENST00000340482,,MPO,0.68,probably_damaging,1,deleterious,0,4.68147,25.9,P05164_R531C,R,C,531,RC,R531C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000821957,0,0.0280304,0.954625
3870,P57082,G,V,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,23475,4383,ENSG00000121075,ENST00000240335,CCDS11629.1,TBX4,0.46,probably_damaging,0.999,deleterious,0,4.70868,26.1,P57082_G248V,G,V,248,GV,G248V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,0.874,G,A,0.73,0.25,,,,0.000596667,0,0.0203476,0.798013
3936,Q9HC21,G,A,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,8459,27,ENSG00000125454,ENST00000580273,,SLC25A19,0.9,,,,,1.55897,11.17,Q9HC21_G76A,G,A,76,GA,G76A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,,,,,,,,,,,,,,,0.953551
3940,P16144,C,R,562,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,4257,3829,ENSG00000132470,ENST00000579662,,ITGB4,0.32,,,,,2.34763,13.81,P16144_C562R,C,R,562,CR,C562R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,0.000135142,0,0.00460861,0.787006
3958,Q7Z403,E,X,155,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.09,,,,,,,,,9399,6464,ENSG00000141524,ENST00000322933,,TMC6,0.4,,,,,12.2893,46,Q7Z403_E155X,E,X,155,EX,E155X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
4018,Q01718,R,C,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,0,0,0,,,,,,512,512,ENSG00000185231,ENST00000327606,CCDS11869.1,MC2R,0.43,probably_damaging,1,deleterious,0,3.85265,19.57,Q01718_R128C,R,C,128,RC,R128C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-0.807,-5.13,4.323,,,,,,,,,0.00034871,0,0.0118917,0.761813
4029,O15118,G,W,992,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,0,0,0,,,,,,21734,6663,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.78,probably_damaging,0.948,deleterious,0.02,4.14348,21.4,O15118_G992W,G,W,992,GW,G992W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-1.867,-5.848,3.981,,,,,,0.444,,86.31,0.000918393,0,0.0313191,0.836625
4030,O15118,G,R,992,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,21734,6663,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.78,benign,0.391,tolerated,0.2,3.24159,16.87,O15118_G992R,G,R,992,GR,G992R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.867,-3.794,1.927,,,,,,29.693,29.693,86.31,0.000918393,0,0.0313191,0.942569
4031,O15118,G,R,992,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,21734,6663,ENSG00000141458,ENST00000269228,CCDS11878.1,NPC1,0.78,benign,0.391,tolerated,0.2,3.36485,17.34,O15118_G992R,G,R,992,GR,G992R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.867,-3.794,1.927,,,,,,29.693,29.693,86.31,0.000918393,0,0.0313191,0.942569
4088,P02766,I,V,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,6884,402,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.86,benign,0.022,tolerated,0.53,-0.078739,3.615,P02766_I127V,I,V,127,IV,I127V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.392,-1.406,0.014,0.008,E,B,0.04,-0.64,22.161,22.161,82.31,0.00821889,0,0.280281,0.95868
4089,P02766,A,V,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,6891,395,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.88,benign,0.082,tolerated,0.45,1.08867,9.443,P02766_A129V,A,V,129,AV,A129V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-2.213,-2.06,-0.153,0.049,E,B,0.44,-0.82,16.667,16.667,61.9,0.0100327,0.0555556,0.342136,0.845519
4104,Q9ULV0,W,X,375,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.07,,,,,,,,,220535,151761,ENSG00000167306,ENST00000285039,CCDS42436.1,MYO5B,0.2,,,,,9.0584,41,Q9ULV0_W375X,W,X,375,WX,W375X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
4114,O43520,G,R,892,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,70601,14778,ENSG00000081923,ENST00000283684,CCDS11965.1,ATP8B1,0.71,probably_damaging,1,deleterious,0,5.13053,32,O43520_G892R,G,R,892,GR,G892R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.000199731,0,0.00681124,0.78896
4115,O43520,R,C,867,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,70526,14853,ENSG00000081923,ENST00000283684,CCDS11965.1,ATP8B1,0.69,probably_damaging,1,deleterious,0,4.39358,23.3,O43520_R867C,R,C,867,RC,R867C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.447,-2.341,0.894,,,,,,33.301,33.301,68.9,0.000502859,0,0.0171485,0.929692
4232,Q9H324,Q,X,318,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,11225,16833,ENSG00000142303,ENST00000270328,CCDS12206.1,ADAMTS10,0.29,,,,,8.54326,41,Q9H324_Q318X,Q,X,318,QX,Q318X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000164437,0,0.00560765,0.983498
4267,O75792,F,L,230,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,6521,514,ENSG00000104889,ENST00000221486,CCDS12282.1,RNASEH2A,0.77,probably_damaging,0.946,deleterious,0,4.31988,22.7,O75792_F230L,F,L,230,FL,F230L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.423,-2.852,1.429,,,,,,3.915,,57.19,,,,0.861516
4282,O00555,E,K,1755,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,21234,137,ENSG00000141837,ENST00000573710,,CACNA1A,0.7,probably_damaging,0.998,,,4.33975,22.8,O00555_E1755K,E,K,1755,EK,E1755K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00011178,0,0.00381192,0.997942
4286,O00555,V,L,1455,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,246636,52276,ENSG00000141837,ENST00000573710,,CACNA1A,0.58,probably_damaging,0.93,,,3.79872,19.29,O00555_V1455L,V,L,1455,VL,V1455L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,9.17e-05,0,0.00312606,1.0037
4310,P52333,C,X,565,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.04,,,,,,,,,6510,333,ENSG00000105639,ENST00000458235,CCDS12366.1,JAK3,0.5,,,,,5.43811,35,P52333_C565X,C,X,565,CX,C565X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000684626,0,0.0233472,0.980504
4312,P52333,Y,C,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,662,1351,ENSG00000105639,ENST00000458235,CCDS12366.1,JAK3,0.09,probably_damaging,0.987,deleterious,0,2.2618,13.52,P52333_Y100C,Y,C,100,YC,Y100C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.39,-4.728,3.338,,,,,,0.499,,46.09,0.000639597,0,0.0218116,0.808754
4314,Q92911,Q,E,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,5850,17351,ENSG00000105641,ENST00000222248,CCDS12368.1,SLC5A5,0.42,probably_damaging,0.982,deleterious,0,4.74385,26.5,Q92911_Q267E,Q,E,267,QE,Q267E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,-1.38,-2.728,1.348,,,,,,1.889,,36.24,0.000326715,0,0.0111417,0.949322
4343,P82251,P,L,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,0,0,0,,,,,,9846,29417,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.54,probably_damaging,0.958,deleterious,0.03,3.49821,17.88,P82251_P261L,P,L,261,PL,P261L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.647,-2.354,0.707,,,,,,28.761,28.761,87.06,0.00211171,0,0.0720136,0.998322
4351,P82251,I,T,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,5045,34218,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.09,probably_damaging,0.999,deleterious,0,4.07831,21,P82251_I44T,I,T,44,IT,I44T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.313,-3.198,1.885,,,,,,,,,0.00191307,0,0.0652395,0.886465
4359,P06744,T,M,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,0,0,0,0.001,,,0.002,,13844,23443,ENSG00000105220,ENST00000415930,CCDS54246.1,GPI,0.41,probably_damaging,0.97,deleterious,0,5.19452,33,P06744_T235M,T,M,235,TM,T235M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00158344,0,0.0539985,0.914857
4364,Q07699,E,Q,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,2862,721,ENSG00000105711,ENST00000415950,CCDS46047.1,SCN1B,0.32,possibly_damaging,0.739,tolerated,0.3,2.49789,14.31,Q07699_E87Q,E,Q,87,EQ,E87Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-1.859,-2.306,0.447,,,,,,10.206,10.206,50,0.00831597,0,0.283592,0.937578
4382,P21817,L,P,4788,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,146295,7570,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.95,,,,,2.19534,13.3,P21817_L4788P,L,P,4788,LP,L4788P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
4386,P21817,R,W,4888,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.15,,,,,,,,,151273,2592,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,2.20791,13.34,P21817_R4888W,R,W,4888,RW,R4888W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
4387,P21817,G,E,4894,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,151292,2573,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,3.33464,17.22,P21817_G4894E,G,E,4894,GE,G4894E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,,,,0.947149
4390,O43707,T,I,259,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,535,876,ENSG00000130402,ENST00000252699,CCDS12518.1,ACTN4,0.28,probably_damaging,0.999,deleterious,0,4.7446,26.5,O43707_T259I,T,I,259,TI,T259I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.391,-3.242,1.851,0.101,H,A,0.7,0,,,,7.57e-05,0,0.00258086,0.762393
4397,Q9BXM0,R,X,953,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.04,,,,,,,,,17870,1730,ENSG00000105227,ENST00000324001,CCDS33028.1,PRX,0.65,,,,,7.82974,39,Q9BXM0_R953X,R,X,953,RX,R953X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4411,P12694,G,R,268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,467,92,ENSG00000248098,ENST00000457836,,BCKDHA,0.6,probably_damaging,0.994,deleterious,0,4.56258,24.7,P12694_G268R,G,R,268,GR,G268R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.195,S,l,0.91,-0.72,,,,0.00235222,0,0.0802155,0.56394
4431,P02655,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.58,0.05,,,,,,,,,2493,1079,ENSG00000234906,ENST00000252490,CCDS12650.1,APOC2,0.01,possibly_damaging,0.896,deleterious,0,2.72863,15.08,P02655_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.246,-2.729,1.483,,,,,,,,,0.014271,0.03,0.486671,0.864608
4469,P19526,Q,X,276,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.13,,,,,,,,,4935,2445,ENSG00000174951,ENST00000310160,CCDS12733.1,FUT1,0.76,,,,,8.2256,40,P19526_Q276X,Q,X,276,QX,Q276X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00476356,0,0.162447,0.941586
4521,P07202,Y,D,453,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,0,0,0,,,,,,50,32369,ENSG00000115705,ENST00000329066,CCDS1643.1,TPO,0.49,probably_damaging,1,deleterious,0,2.58525,14.6,P07202_Y453D,Y,D,453,YD,Y453D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.023,-3.774,2.751,,,,,,,,,0.000655281,0,0.0223464,0.77736
4525,P07202,Q,E,660,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,0,0,0,0.001,,0.003,,,9342,22972,ENSG00000115705,ENST00000329066,CCDS1643.1,TPO,0.71,probably_damaging,0.999,deleterious,0,4.16435,21.5,P07202_Q660E,Q,E,660,QE,Q660E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,-1.16,-2.621,1.461,,,,,,,,,0.000118747,0,0.00404953,0.939623
4526,P07202,R,W,693,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,11390,20924,ENSG00000115705,ENST00000329066,CCDS1643.1,TPO,0.74,probably_damaging,0.999,deleterious,0,3.33902,17.24,P07202_R693W,R,W,693,RW,R693W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.101,-5.178,4.077,,,,,,,,,0.000690566,0,0.0235497,0.788028
4541,O15232,V,D,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,6713,12916,ENSG00000132031,ENST00000407540,CCDS46226.1,MATN3,0.4,probably_damaging,0.999,deleterious,0,3.33149,17.21,O15232_V194D,V,D,194,VD,V194D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.039,-3.774,2.735,,,,,,,,,0.000502827,0,0.0171475,0.8044
4562,P55084,R,K,321,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,24975,4530,ENSG00000138029,ENST00000405867,,HADHB,0.91,benign,0.263,tolerated,0.06,4.73856,26.4,P55084_R321K,R,K,321,RK,R321K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,,,,,,,,,,,,0.00184821,0,0.0630277,0.982235
4570,Q9HC10,Y,X,1497,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.11,,,,,,,,,398,3217,ENSG00000115155,ENST00000403946,,OTOF,0.75,,,,,11.2239,44,Q9HC10_Y1497X,Y,X,1497,YX,Y1497X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
4578,Q9HC10,I,T,515,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,76238,25237,ENSG00000115155,ENST00000403946,,OTOF,0.26,possibly_damaging,0.757,deleterious,0,4.76955,26.8,Q9HC10_I515T,I,T,515,IT,I515T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.317,-3.63,2.313,,,,,,3.867,,72.21,,,,0.881521
4593,Q9UI10,R,Q,363,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,1869,96,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.7,probably_damaging,0.996,deleterious,0,5.50635,35,Q9UI10_R363Q,R,Q,363,RQ,R363Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.0038187,0,0.130225,0.968556
4601,Q9UM73,T,I,1087,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,0.001,0.002,,,,47,2571,ENSG00000171094,ENST00000389048,CCDS33172.1,ALK,0.67,benign,0.213,deleterious,0.03,3.65808,18.6,Q9UM73_T1087I,T,I,1087,TI,T1087I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.149,-3.337,2.188,0.719,H,A,0.7,2.81,,,,,,,0.707315
4603,P47989,R,C,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,16998,63397,ENSG00000158125,ENST00000379416,CCDS1775.1,XDH,0.11,probably_damaging,1,deleterious,0,4.66449,25.7,P47989_R149C,R,C,149,RC,R149C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.000141849,0,0.00483733,0.777624
4714,P15313,G,R,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,332,1864,ENSG00000116039,ENST00000234396,CCDS1912.1,ATP6V1B1,0.15,probably_damaging,0.997,deleterious,0,4.93988,28.7,P15313_G78R,G,R,78,GR,G78R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.008,-3.615,2.607,,E,b,0.91,-1.08,,,,0.000654946,0,0.022335,0.529788
4719,O75923,G,R,536,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,84371,135576,ENSG00000135636,ENST00000409582,CCDS46324.1,DYSF,0.25,probably_damaging,1,deleterious,0,5.02779,29.7,O75923_G536R,G,R,536,GR,G536R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00017123,0,0.0058393,0.972859
4725,P35270,R,G,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,0,0,0,,,,,,1075,3297,ENSG00000116096,ENST00000234454,CCDS1920.1,SPR,0.57,probably_damaging,0.999,deleterious,0,2.51191,14.36,P35270_R150G,R,G,150,RG,R150G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.459,-2.27,0.811,0.03,E,B,0.91,-1.4,35.163,35.163,74.71,0.00820556,0,0.279826,0.671022
4726,P35270,P,L,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,1115,3257,ENSG00000116096,ENST00000234454,CCDS1920.1,SPR,0.62,probably_damaging,0.999,deleterious,0,5.13479,32,P35270_P163L,P,L,163,PL,P163L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.906,-3.439,2.533,0.128,.,B,1.07,-0.07,,,,0.00750356,0,0.255887,0.594467
4748,P38435,Q,X,374,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.03,,,,,,,,,537,344,ENSG00000115486,ENST00000233838,CCDS1978.1,GGCX,0.49,,,,,6.0335,37,P38435_Q374X,Q,X,374,QX,Q374X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000725643,0,0.0247459,0.98231
4779,Q16281,G,R,561,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,0,0,0,,,,,,19551,506,ENSG00000144191,ENST00000409937,,CNGA3,0.8,probably_damaging,1,deleterious,0,4.56658,24.8,Q16281_G561R,G,R,561,GR,G561R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.00100947,0,0.034425,0.713696
4780,Q9UNE0,R,Q,452,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,92275,2517,ENSG00000135960,ENST00000409271,,EDAR,0.94,benign,0.026,deleterious,0,4.59893,25.1,Q9UNE0_R452Q,R,Q,452,RQ,R452Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
4785,Q9UNE0,D,A,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,60045,34747,ENSG00000135960,ENST00000409271,,EDAR,0.23,possibly_damaging,0.626,deleterious,0,3.69199,18.76,Q9UNE0_D110A,D,A,110,DA,D110A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-1.139,-3.038,1.899,,,,,,,,,0.000360809,0,0.0123043,0.888458
4812,P04070,V,M,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,1495,1660,ENSG00000115718,ENST00000409048,,PROC,0.15,possibly_damaging,0.824,tolerated,0.1,3.00893,16.04,P04070_V76M,V,M,76,VM,V76M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.963,-2.986,1.023,,,,,,12.332,12.332,76.14,0.00280756,0,0.0957434,0.987201
4909,P02708,F,V,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,10889,769,ENSG00000138435,ENST00000409542,,CHRNA1,0.46,,,deleterious,0,4.01544,20.6,P02708_F171V,F,V,171,FV,F171V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,,,,,,,,,,,,0.000398319,0,0.0135835,0.986469
4910,P02708,N,K,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,10843,815,ENSG00000138435,ENST00000409542,,CHRNA1,0.41,,,deleterious,0,2.54417,14.47,P02708_N155K,N,K,155,NK,N155K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.00235257,0,0.0802276,0.968102
4951,P02461,G,E,885,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,659,3088,ENSG00000168542,ENST00000317840,,COL3A1,0.76,,,deleterious,0,4.35774,23,P02461_G885E,G,E,885,GE,G885E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.095,-3.564,2.469,,,,,0,1.291,,71.9,1.34e-05,0,0.000456353,0.713901
5065,P17661,R,P,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,1243,2456,ENSG00000175084,ENST00000373960,CCDS33383.1,DES,0.74,probably_damaging,0.987,deleterious,0,4.97552,29.1,P17661_R350P,R,P,350,RP,R350P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.572,-3.819,2.247,,,,,,0.848,,78.09,0.00279908,0,0.0954544,0.836817
5110,Q07001,S,F,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,5206,231,ENSG00000135902,ENST00000457943,,CHRND,0.29,probably_damaging,0.985,deleterious,0,5.01549,29.5,Q07001_S95F,S,F,95,SF,S95F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.00216921,0,0.0739745,0.950837
5120,P22309,L,Q,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,523,6349,ENSG00000241635,ENST00000360418,,UGT1A1,0.39,probably_damaging,0.968,deleterious,0.02,3.65182,18.57,P22309_L175Q,L,Q,175,LQ,L175Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.36,-4.108,2.748,,,,,,1.567,,58.91,0.00231717,0,0.0790204,0.839863
5196,P21549,R,C,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,0,0,0,,,,,,3936,889,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.59,probably_damaging,1,deleterious,0,1.58371,11.25,P21549_R233C,R,C,233,RC,R233C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-0.928,-5.268,4.34,0.12,.,B,1.66,1.06,0.967,,66.07,0.00148671,0,0.0507,0.625105
5197,P21549,R,H,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,3937,888,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.59,probably_damaging,0.999,deleterious,0,3.04948,16.18,P21549_R233H,R,H,233,RH,R233H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.928,-3.339,2.411,0.12,.,B,1.03,1.06,12.012,12.012,66.07,0.00148671,0,0.0507,0.713312
5198,P21549,R,L,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,3937,888,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.59,probably_damaging,0.999,deleterious,0,3.01097,16.04,P21549_R233L,R,L,233,RL,R233L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-0.928,-3.558,2.63,0.12,.,B,1.75,1.06,6.541,,66.07,0.00148671,0,0.0507,0.663818
5199,P21549,D,H,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,3966,859,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.62,probably_damaging,1,deleterious,0,3.99428,20.5,P21549_D243H,D,H,243,DH,D243H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-0.732,-4.656,3.924,0.024,.,B,0.58,-0.57,1.57,,53.06,0.000848707,0,0.0289427,0.571558
5200,P21549,I,T,244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,3970,855,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.62,possibly_damaging,0.855,tolerated,0.06,3.38659,17.43,P21549_I244T,I,T,244,IT,I244T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-2.306,-3.03,0.724,,H,A,0.7,-0.59,9.975,9.975,81.12,0.00455798,0,0.155437,0.866285
5236,Q2I0M5,C,R,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,34998,7010,ENSG00000101282,ENST00000400634,CCDS42845.1,RSPO4,0.62,probably_damaging,0.987,deleterious,0,3.39503,17.46,Q2I0M5_C107R,C,R,107,CR,C107R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,0.000893804,0,0.0304805,0.785818
5334,P43026,Y,X,487,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.07,,,,,,,,,925,607,ENSG00000125965,ENST00000374372,CCDS13254.1,GDF5,0.97,,,,,7.71326,39,P43026_Y487X,Y,X,487,YX,Y487X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00516916,0,0.176279,0.929809
5338,P43026,R,Q,378,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.15,,,,,,,,,1253,935,ENSG00000125965,ENST00000374372,CCDS13254.1,GDF5,0.75,benign,0.219,tolerated,0.06,3.48937,17.85,P43026_R378Q,R,Q,378,RQ,R378Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.00382848,0,0.130559,0.827147
5339,P43026,L,R,373,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,1268,950,ENSG00000125965,ENST00000374372,CCDS13254.1,GDF5,0.74,benign,0.032,tolerated,0.19,1.41661,10.67,P43026_L373R,L,R,373,LR,L373R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.117,-3.71,2.593,,,,,,,,,0.00357138,0.0078125,0.121791,0.779977
5352,P41235,Q,X,277,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.09,,,,,,,,,18529,4827,ENSG00000101076,ENST00000443598,CCDS13331.1,HNF4A,0.66,,,,,6.67225,38,P41235_Q277X,Q,X,277,QX,Q277X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00204784,0,0.0698355,0.963541
5394,Q9UJQ4,R,X,865,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.09,,,,,,,,,13399,4745,ENSG00000101115,ENST00000217086,CCDS13438.1,SALL4,0.82,,,,,9.35603,42,Q9UJQ4_R865X,R,X,865,RX,R865X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000768477,0,0.0262067,0.977351
5402,O95467,R,H,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,456,23,ENSG00000087460,ENST00000371085,CCDS13472.1,GNAS,0.59,probably_damaging,0.99,deleterious,0,5.20756,33,O95467_R231H,R,H,231,RH,R231H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
5428,O43526,G,V,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,30229,8731,ENSG00000075043,ENST00000359689,,KCNQ2,0.31,probably_damaging,0.95,deleterious,0,2.59463,14.64,O43526_G271V,G,V,271,GV,G271V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.847,-3.543,2.696,,,,,,10.371,,89.11,0.000120515,0,0.00410981,0.861191
5429,O43526,W,X,269,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,30224,8736,ENSG00000075043,ENST00000359689,,KCNQ2,0.31,,,,,5.25478,33,O43526_W269X,W,X,269,WX,W269X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000161488,0,0.00550706,0.957995
5433,O43526,L,F,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,30144,8816,ENSG00000075043,ENST00000359689,,KCNQ2,0.28,possibly_damaging,0.811,deleterious,0,3.73195,18.95,O43526_L243F,L,F,243,LF,L243F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-0.995,-3.865,2.87,,,,,,3.148,,89.11,0.000543732,0,0.0185424,0.872671
5517,P35520,S,L,466,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,727,2617,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.85,benign,0.238,deleterious,0,4.22523,22,P35520_S466L,S,L,466,SL,S466L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.363,-3.129,1.766,,,,,,4.43,,74.41,0.00454978,0,0.155157,0.935996
5551,P05107,S,P,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,7179,52,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.18,probably_damaging,1,deleterious,0,4.74019,26.5,P05107_S138P,S,P,138,SP,S138P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.068,-3.51,2.442,0.384,T,A,0.25,-0.02,,,,0.000261109,0,0.00890437,0.81627
5588,Q9UBR1,R,P,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,0,0,0,0.001,,,,0.001,4969,3528,ENSG00000100024,ENST00000382760,,UPB1,0.38,probably_damaging,0.987,deleterious,0,2.88643,15.62,Q9UBR1_R70P,R,P,70,RP,R70P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.665,-3.684,2.019,0.359,.,b,0.68,-0.16,2.175,,88.02,0.00236475,0,0.0806427,0.786461
5607,Q9Y3I1,R,X,498,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.07,,,,,,,,,23196,377,ENSG00000100225,ENST00000266087,CCDS13907.1,FBXO7,0.95,,,,,8.1401,40,Q9Y3I1_R498X,R,X,498,RX,R498X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00578595,0,0.197313,0.922719
5668,P00387,C,R,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,6022,315,ENSG00000100243,ENST00000407623,CCDS14040.1,CYB5R3,0.65,probably_damaging,0.997,deleterious,0.01,3.30551,17.11,P00387_C181R,C,R,181,CR,C181R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00102385,0,0.0349155,0.900235
5670,P00387,S,P,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,5116,592,ENSG00000100243,ENST00000407623,CCDS14040.1,CYB5R3,0.38,probably_damaging,1,deleterious,0,3.78602,19.22,P00387_S105P,S,P,105,SP,S105P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.00589619,0,0.201072,0.94371
5706,P19971,V,M,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,0.001,0,0.001,0.001,,,,0.001,2379,181,ENSG00000025708,ENST00000252029,CCDS14096.1,TYMP,0.43,probably_damaging,1,deleterious,0,4.33665,22.8,P19971_V208M,V,M,208,VM,V208M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.128,-3.931,2.803,0.117,.,A,0.11,-0.82,1.096,,29.67,0.000722955,0,0.0246543,0.629959
5709,P19971,G,R,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,0,,,,,1396,803,ENSG00000025708,ENST00000252029,CCDS14096.1,TYMP,0.3,probably_damaging,1,deleterious,0,4.12667,21.3,P19971_G145R,G,R,145,GR,G145R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.997,-2.111,1.114,0.046,.,b,0.91,-0.77,11.635,11.635,33.82,0.000370401,0,0.0126314,0.68817
5762,P56539,N,K,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.13,,,,,,,,,109,12782,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.22,probably_damaging,0.992,deleterious,0,2.77527,15.24,P56539_N33K,N,K,33,NK,N33K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.083,-3.009,1.926,,,,,,7.89,7.89,56.95,0.00494295,0,0.168565,0.908944
5763,P56539,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.58,0.11,,,,,,,,,126,12765,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,,,,,,3.65119,18.56,P56539_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5769,P56539,G,S,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,0.037,0.109,0,0.03,,0.02,0.12,,537,1180,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.37,probably_damaging,0.993,deleterious,0.05,4.31306,22.6,P56539_G56S,G,S,56,GS,G56S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-2.071,-2.977,0.906,,,,,,13.982,13.982,62.25,0.0113228,0.0105263,0.386132,0.897409
5770,P56539,V,M,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,540,1177,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.38,probably_damaging,0.979,deleterious,0,4.34096,22.8,P56539_V57M,V,M,57,VM,V57M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.249,-4.49,3.241,,,,,,2.495,,66.23,0.0101197,0,0.345102,0.795872
5772,P56539,T,P,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,558,1159,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.42,probably_damaging,0.979,deleterious,0.01,4.10338,21.1,P56539_T63P,T,P,63,TP,T63P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-2.335,-4.276,1.941,,,,,,1.793,,61.59,0.0122551,0,0.417925,0.842229
5773,P56539,T,S,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,559,1158,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.42,benign,0.411,tolerated,0.09,3.40509,17.5,P56539_T63S,T,S,63,TS,T63S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,-2.335,-2.999,0.664,,,,,,13.545,13.545,61.59,0.0122551,0,0.417925,0.928613
5781,P56539,P,L,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,685,1032,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.7,probably_damaging,1,deleterious,0,4.65478,25.6,P56539_P105L,P,L,105,PL,P105L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.682,-3.735,3.053,,,,,,1.262,,27.15,0.00417866,0,0.142501,0.819548
5821,Q01831,R,X,542,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.08,,,,0.001,,,,0.001,9120,660,ENSG00000154767,ENST00000449060,CCDS46764.1,XPC,0.6,,,,,6.00707,37,Q01831_R542X,R,X,542,RX,R542X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5822,Q9Y215,Y,S,430,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,44750,2299,ENSG00000206561,ENST00000383788,CCDS33709.1,COLQ,0.95,probably_damaging,0.919,,,3.36449,17.34,Q9Y215_Y430S,Y,S,430,YS,Y430S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,-1.181,-3.388,2.207,,,,,,,,,0.00965937,0,0.329404,0.71472
5919,Q14524,R,W,1458,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,77653,5343,ENSG00000183873,ENST00000449557,,SCN5A,0.74,benign,0.294,deleterious,0,1.94264,12.45,Q14524_R1458W,R,W,1458,RW,R1458W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
5921,Q14524,N,S,1271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,72899,10097,ENSG00000183873,ENST00000449557,,SCN5A,0.65,probably_damaging,0.971,deleterious,0.02,3.95953,20.3,Q14524_N1271S,N,S,1271,NS,N1271S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,,,,0.952307
5946,Q8NEW7,R,W,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,7855,1699,ENSG00000181585,ENST00000326431,CCDS43081.1,TMIE,0.59,probably_damaging,0.967,deleterious,0.01,4.73939,26.5,Q8NEW7_R92W,R,W,92,RW,R92W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.00817959,0,0.278941,0.746271
5950,Q03431,R,X,104,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.03,,,,,,,,,3145,2869,ENSG00000160801,ENST00000449590,CCDS2747.1,PTH1R,0.18,,,,,3.68215,18.71,Q03431_R104X,R,X,104,RX,R104X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00203346,0.00408998,0.0693454,0.959275
5954,Q03431,T,P,410,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,58,914,ENSG00000160801,ENST00000430002,CCDS2747.1,PTH1R,0.69,probably_damaging,1,deleterious,0,4.51615,24.3,Q03431_T410P,T,P,410,TP,T410P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.149,-3.432,2.283,,,,,,,,,0.000771665,0,0.0263154,0.834297
5955,Q03431,T,R,410,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,57,913,ENSG00000160801,ENST00000430002,CCDS2747.1,PTH1R,0.69,probably_damaging,1,deleterious,0,4.64572,25.5,Q03431_T410R,T,R,410,TR,T410R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.149,-3.485,2.336,,,,,,,,,0.000771665,0,0.0263154,0.809801
5957,Q03431,R,X,485,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.08,,,,,,,,,728,129,ENSG00000160801,ENST00000430002,CCDS2747.1,PTH1R,0.82,,,,,5.37481,34,Q03431_R485X,R,X,485,RX,R485X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00415215,0.00925926,0.141597,0.951177
5987,P55268,Y,X,689,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.03,,,,,,,,,24,86,ENSG00000172037,ENST00000305544,CCDS2789.1,LAMB2,0.38,,,,,6.94112,38,P55268_Y689X,Y,X,689,YX,Y689X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
5988,P55268,C,X,374,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.07,,,,,,,,,2687,632,ENSG00000172037,ENST00000305544,CCDS2789.1,LAMB2,0.21,,,,,5.61765,36,P55268_C374X,C,X,374,CX,C374X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
5994,P48728,G,D,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,175,237,ENSG00000145020,ENST00000430521,,AMT,0.81,probably_damaging,0.998,deleterious,0,4.85537,27.7,P48728_G213D,G,D,213,GD,G213D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00521823,0,0.177952,0.938464
5999,Q12794,E,K,268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,1418,493,ENSG00000114378,ENST00000395143,CCDS2817.1,HYAL1,0.66,probably_damaging,0.936,deleterious,0,4.56171,24.7,Q12794_E268K,E,K,268,EK,E268K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.095,-2.876,1.781,0.032,H,A,1.3,-0.78,6.747,,55.86,0.00293573,0.011976,0.100114,0.665598
6033,O75369,S,P,1602,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,4033,34664,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.62,probably_damaging,0.95,deleterious,0,5.09785,31,O75369_S1602P,S,P,1602,SP,S1602P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.239,-3.432,2.193,,,,,,,,,5.99e-05,0,0.00204202,0.841516
6034,O75369,P,L,1603,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,4037,34660,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.62,probably_damaging,1,deleterious,0,5.55293,35,O75369_P1603L,P,L,1603,PL,P1603L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,4.72e-05,0,0.0016103,0.82221
6098,Q93099,H,R,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,0,0,0,,,,,,8585,76,ENSG00000113924,ENST00000283871,CCDS3000.1,HGD,0.83,possibly_damaging,0.821,deleterious,0,4.67924,25.8,Q93099_H371R,H,R,371,HR,H371R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.433,-3.218,1.785,0.306,B,B,1.03,1.38,,,,0.0012845,0,0.043804,0.905238
6099,Q93099,M,V,368,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,0,0,0,0.001,,,,0.003,8575,86,ENSG00000113924,ENST00000283871,CCDS3000.1,HGD,0.83,possibly_damaging,0.575,deleterious,0,3.87855,19.71,Q93099_M368V,M,V,368,MV,M368V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.71,-2.589,0.879,0.669,T,l,0.11,-0.53,,,,0.00271794,0,0.0926873,0.833727
6107,P41180,L,P,13,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,65,3412,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.01,benign,0.162,deleterious,0.02,0.955488,8.897,P41180_L13P,L,P,13,LP,L13P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.743,-4.071,2.328,,,,,,2.371,,91.93,0.000431783,0,0.0147247,0.869275
6121,P41180,T,M,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,3016,292,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.14,probably_damaging,0.965,tolerated,0.06,4.87088,27.9,P41180_T151M,T,M,151,TM,T151M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.337,-2.32,-0.017,,,,,,5.83,5.83,37.11,0.00142738,0,0.0486767,0.973014
6129,P41180,G,R,553,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,308,239,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.51,probably_damaging,0.946,deleterious,0,5.50237,35,P41180_G553R,G,R,553,GR,G553R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.951,-4.267,2.316,,,,,,2.223,,75.14,0.000958256,0,0.0326785,0.850541
6138,P41180,L,Q,727,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,29972,1154,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.67,probably_damaging,0.984,deleterious,0,3.89859,19.82,P41180_L727Q,L,Q,727,LQ,L727Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-2.305,-3.569,1.264,,,,,,7.482,7.482,31.35,0.000785983,0,0.0268037,0.927553
6159,P08100,P,A,23,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,160,6370,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.07,probably_damaging,0.997,deleterious,0,4.89657,28.2,P08100_P23A,P,A,23,PA,P23A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.115,-2.813,1.698,,T,a,0.52,-0.72,,,,0.00093975,0,0.0320474,0.749194
6161,P08100,F,L,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,0.001,,,,0.001,226,6304,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.13,probably_damaging,0.982,tolerated,0.05,4.4409,23.6,P08100_F45L,F,L,45,FL,F45L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.76,-2.079,0.319,0.047,H,A,0.03,-0.82,29.89,29.89,92.53,0.00204204,0,0.0696376,0.891875
6178,P08100,G,S,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,3624,2906,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.52,probably_damaging,1,deleterious,0,3.58404,18.26,P08100_G182S,G,S,182,GS,G182S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.185,-3.041,1.856,0.034,T,p,0.02,-1.03,2.538,,60.06,0.000384209,0,0.0131023,0.739506
6222,P58012,Q,X,99,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.2,,,,,,,,,713,2204,ENSG00000183770,ENST00000330315,CCDS3105.1,FOXL2,0.26,,,,,7.39036,39,P58012_Q99X,Q,X,99,QX,Q99X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000642622,0,0.0219147,0.98231
6351,Q13144,D,G,387,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,181,116,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.54,benign,0.388,deleterious,0.04,3.25952,16.94,Q13144_D387G,D,G,387,DG,D387G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.238,-2.904,1.666,,,,,,2.648,,39.53,0.0014127,0,0.0481761,0.896464
6466,O76024,P,L,504,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,0,0,0,,,,,,6535,389,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.57,probably_damaging,0.999,tolerated,0.08,1.99422,12.63,O76024_P504L,P,L,504,PL,P504L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.000543067,0,0.0185197,0.81599
6468,O76024,W,X,648,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.08,,,,,,,,,6968,822,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.73,,,,,7.43346,39,O76024_W648X,W,X,648,WX,W648X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00173708,0,0.0592378,0.892811
6479,Q9NRM0,R,C,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,40803,89,ENSG00000109667,ENST00000506583,CCDS3406.1,SLC2A9,0.33,probably_damaging,0.983,deleterious,0,4.05844,20.8,Q9NRM0_R169C,R,C,169,RC,R169C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
6610,P08235,L,P,862,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,355499,19,ENSG00000151623,ENST00000512865,CCDS54811.1,NR3C2,0.99,probably_damaging,0.993,deleterious,0,3.14531,16.52,P08235_L862P,L,P,862,LP,L862P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,0.153,H,A,1.07,-0.17,,,,0.000990282,0,0.0337706,0.630598
6611,P08235,E,G,855,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,355478,40,ENSG00000151623,ENST00000512865,CCDS54811.1,NR3C2,0.99,possibly_damaging,0.778,tolerated,0.38,3.23685,16.85,P08235_E855G,E,G,855,EG,E855G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,,,,,,,,,,,,0.0015423,0,0.0525957,0.888427
6644,P12235,D,G,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,1685,636,ENSG00000151729,ENST00000281456,CCDS34114.1,SLC25A4,0.35,benign,0.041,deleterious,0,3.67595,18.68,P12235_D104G,D,G,104,DG,D104G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.264,-2.815,1.551,0.512,.,B,0.46,1.32,,,,0.00461973,0,0.157542,0.866261
6645,P12235,A,P,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,1714,607,ENSG00000151729,ENST00000281456,CCDS34114.1,SLC25A4,0.38,benign,0.067,tolerated,0.08,3.91856,19.93,P12235_A114P,A,P,114,AP,A114P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.466,-3.516,2.05,0.524,H,A,0.52,-0.81,1.53,,89.6,0.00503407,0,0.171672,0.759455
6692,P03951,S,R,542,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,929,263,ENSG00000088926,ENST00000264692,,F11,0.95,probably_damaging,1,deleterious,0,4.03259,20.7,P03951_S542R,S,R,542,SR,S542R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,0.00366586,0,0.125014,0.947126
6918,Q9UH77,C,F,82,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,366,14903,ENSG00000146021,ENST00000506491,,KLHL3,0.16,probably_damaging,1,deleterious,0,4.59927,25.1,Q9UH77_C82F,C,F,82,CF,C82F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,0.00157303,0,0.0536437,0.893171
6941,Q15319,L,F,289,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.23,,,,,,,,,1268,229,ENSG00000091010,ENST00000230732,CCDS4281.1,POU4F3,0.86,probably_damaging,0.998,deleterious,0,2.89173,15.63,Q15319_L289F,L,F,289,LF,L289F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.208,-3.353,2.145,,,,,,,,,0.00320768,0,0.109388,0.845442
6950,Q8TF17,L,P,661,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,3867,636,ENSG00000169247,ENST00000515425,CCDS4293.1,SH3TC2,0.51,possibly_damaging,0.682,deleterious,0.01,3.27367,16.99,Q8TF17_L661P,L,P,661,LP,L661P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.617,-4.141,2.524,,,,,,1.263,,85.17,0.000555411,0,0.0189407,0.869053
6955,Q86YN6,A,P,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,0.11,0.161,0.084,0.1,0.06,0.15,0.16,0.08,336,14883,ENSG00000155846,ENST00000360453,CCDS54933.1,PPARGC1B,0.17,benign,0.034,tolerated,0.5,-1.10085,0.142,Q86YN6_A164P,A,P,164,AP,A164P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,,,,0.959577
7091,O75603,G,S,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,0,0,0,,,,,,4646,4073,ENSG00000124827,ENST00000379491,CCDS4517.1,GCM2,0.12,probably_damaging,0.999,tolerated,0.08,5.59145,35,O75603_G63S,G,S,63,GS,G63S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.741,-3.036,2.295,,,,,,,,,,,,0.779914
7092,O75603,R,L,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,4599,4120,ENSG00000124827,ENST00000379491,CCDS4517.1,GCM2,0.09,probably_damaging,0.997,deleterious,0,4.16416,21.5,O75603_R47L,R,L,47,RL,R47L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.296,-3.271,1.975,,,,,,1.544,,24.9,,,,0.808582
7107,Q30201,Q,P,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,33,67,ENSG00000010704,ENST00000470149,,HFE,0.81,probably_damaging,0.931,deleterious,0.01,2.62358,14.73,Q30201_Q280P,Q,P,280,QP,Q280P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,,,,,,,,,,,,0.00170857,0,0.0582657,0.926171
7111,Q9NU63,R,H,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,3636,885,ENSG00000204644,ENST00000376883,,ZFP57,0.44,probably_damaging,0.999,deleterious,0.01,3.29993,17.09,Q9NU63_R228H,R,H,228,RH,R228H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
7115,Q99519,G,R,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,0,0,0,,,,,,2287,1275,ENSG00000204386,ENST00000375631,CCDS4723.1,NEU1,0.59,probably_damaging,0.949,deleterious,0,3.18235,16.65,Q99519_G243R,G,R,243,GR,G243R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.00385931,0.00581395,0.131611,0.756444
7133,Q8TAF8,Y,C,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,756,13398,ENSG00000197753,ENST00000360215,CCDS4812.1,LHFPL5,0.58,probably_damaging,0.996,deleterious,0,3.61579,18.4,Q8TAF8_Y127C,Y,C,127,YC,Y127C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.486,-4.592,3.106,,,,,,1.307,,71.69,0.0051296,0,0.17493,0.886732
7137,Q9NZC2,K,N,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,4186,482,ENSG00000095970,ENST00000373113,CCDS4852.1,TREM2,0.81,probably_damaging,0.961,deleterious,0.01,2.49693,14.31,Q9NZC2_K186N,K,N,186,KN,K186N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-1.083,-3.265,2.182,,,,,,,,,0.0123716,0,0.421895,0.759672
7145,Q9UMX6,G,R,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,0.001,0.002,,,,9231,1285,ENSG00000112599,ENST00000230361,CCDS4865.1,GUCA1B,0.79,possibly_damaging,0.876,deleterious,0,4.45254,23.7,Q9UMX6_G157R,G,R,157,GR,G157R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.235,-2.334,1.099,0.69,.,l,0.91,0,16.342,16.342,78,0.00587589,0,0.20038,0.895395
7159,Q14749,H,N,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,0,0,0.001,,,,,,2391,722,ENSG00000124713,ENST00000372808,CCDS4876.1,GNMT,0.6,probably_damaging,1,deleterious,0.01,4.82646,27.4,Q14749_H177N,H,N,177,HN,H177N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,-1.311,-3,1.689,0.006,E,B,0.44,0.16,,,,0.00382816,0,0.130548,0.805549
7244,Q5TD94,Q,X,109,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.09,0,0,0,,,,,,324,15494,ENSG00000111834,ENST00000368581,CCDS55051.1,RSPH4A,0.18,,,,,4.63026,25.4,Q5TD94_Q109X,Q,X,109,QX,Q109X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7332,P54278,R,X,802,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.11,,,,,,,,,26378,46,ENSG00000122512,ENST00000265849,CCDS5343.1,PMS2,0.93,,,,,6.79544,38,P54278_R802X,R,X,802,RX,R802X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00289687,0,0.0987891,0.951177
7355,P49639,R,X,26,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.16,,,,,,,,,138,491,ENSG00000105991,ENST00000343060,CCDS5401.1,HOXA1,0.08,,,,,3.96134,20.3,P49639_R26X,R,X,26,RX,R26X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7446,P08236,W,X,395,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.08,,,,,,,,,500,10,ENSG00000169919,ENST00000345660,,GUSB,0.66,,,,,4.4946,24.1,P08236_W395X,W,X,395,WX,W395X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00220981,0,0.0753592,0.940601
7463,P15502,Y,X,150,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.03,,,,,,,,,1267,617,ENSG00000049540,ENST00000380562,,ELN,0.21,,,,,5.04824,29.9,P15502_Y150X,Y,X,150,YX,Y150X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
7667,P20839,R,P,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,2124,72,ENSG00000106348,ENST00000419067,CCDS47699.1,IMPDH1,0.49,probably_damaging,0.994,deleterious,0,4.90241,28.2,P20839_R276P,R,P,276,RP,R276P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,,,,0.914096
7669,P20839,R,W,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,0,0,0,0.001,,,,0.003,143,11,ENSG00000106348,ENST00000419067,CCDS47699.1,IMPDH1,0.28,possibly_damaging,0.9,deleterious,0,5.19856,33,P20839_R157W,R,W,157,RW,R157W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
7677,Q9HBG4,R,Q,807,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,0,,,,,64405,3107,ENSG00000105929,ENST00000310018,CCDS5849.1,ATP6V0A4,0.96,probably_damaging,0.991,deleterious,0,4.78583,26.9,Q9HBG4_R807Q,R,Q,807,RQ,R807Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.523,-2.281,0.758,,,,,,14.924,14.924,69.76,0.000519839,0,0.0177276,1.03403
7725,Q12809,V,M,822,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,6827,432,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.71,probably_damaging,0.998,deleterious,0,4.28012,22.4,Q12809_V822M,V,M,822,VM,V822M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.429,-3.76,2.331,,,,,,2.726,,54.7,0.00026262,0,0.00895587,0.870781
7726,Q12809,S,L,818,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,6816,421,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.71,probably_damaging,0.972,deleterious,0,5.20367,33,Q12809_S818L,S,L,818,SL,S818L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.468,-3.088,1.62,,,,,,3.257,,54.7,0.000328293,0,0.0111955,0.920629
8016,P19099,V,A,386,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,0.072,0.027,0.095,0.04,0.002,0.07,0.01,0.08,4994,2291,ENSG00000179142,ENST00000323110,CCDS6393.1,CYP11B2,0.77,benign,0.006,tolerated,0.37,0.049749,4.273,P19099_V386A,V,A,386,VA,V386A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.965,-2.3,0.335,,,,,,25.281,25.281,87.28,0.00359769,0,0.122689,1.01309
8051,P07902,Y,C,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,31,6,ENSG00000213930,ENST00000450095,,GALT,0.37,probably_damaging,0.998,deleterious,0,1.45818,10.82,P07902_Y100C,Y,C,100,YC,Y100C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00219802,0,0.0749571,0.941332
8060,O15287,Q,X,356,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.01,,,,,,,,,124,301,ENSG00000221829,ENST00000378643,CCDS6574.1,FANCG,0.57,,,,,8.00824,40,O15287_Q356X,Q,X,356,QX,Q356X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8146,Q01974,R,X,119,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.15,,,,,,,,,18402,46,ENSG00000169071,ENST00000375708,CCDS6691.1,ROR2,0.13,,,,,2.97781,15.93,Q01974_R119X,R,X,119,RX,R119X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000460106,0,0.0156906,0.977351
8156,Q00597,L,P,554,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,0,0,0,,,,,,215503,2668,ENSG00000158169,ENST00000375305,CCDS35071.1,FANCC,0.99,probably_damaging,0.976,deleterious,0,3.8292,19.45,Q00597_L554P,L,P,554,LP,L554P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.0155221,0,0.529336,0.761462
8197,P05062,A,P,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,0.003,0,0.005,0.003,,,,0.01,8182,2013,ENSG00000136872,ENST00000374855,CCDS6756.1,ALDOB,0.41,possibly_damaging,0.868,deleterious,0,5.23356,33,P05062_A150P,A,P,150,AP,A150P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.646,-3.666,2.02,,E,B,0.52,-0.69,2.16,,76.1,0.00295263,0,0.100691,0.641175
8205,O95477,C,R,1477,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,121962,25274,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.65,probably_damaging,0.999,deleterious,0,4.52117,24.3,O95477_C1477R,C,R,1477,CR,C1477R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,0.000107158,0,0.00365432,0.803807
8211,O95477,Q,R,597,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,38,5436,ENSG00000165029,ENST00000374736,CCDS6762.1,ABCA1,0.26,probably_damaging,1,deleterious,0,5.07299,31,O95477_Q597R,Q,R,597,QR,Q597R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.489,-2.993,1.504,,,,,,,,,5.68e-05,0,0.00193823,0.928692
8263,P00568,Y,C,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.12,,,,,,,,,4368,118,ENSG00000106992,ENST00000373156,CCDS6881.1,AK1,0.85,probably_damaging,1,deleterious,0,4.01194,20.6,P00568_Y164C,Y,C,164,YC,Y164C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.282,-4.598,3.316,0.011,H,A,0.25,-0.48,,,,0.00610404,0,0.20816,0.557762
8277,Q9UPQ8,C,S,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,611,1479,ENSG00000175283,ENST00000372586,CCDS6915.1,DOLK,0.18,probably_damaging,0.982,deleterious,0,3.35659,17.31,Q9UPQ8_C99S,C,S,99,CS,C99S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.469,-3.335,1.866,,,,,,0.5,,22.68,0.000321376,0,0.0109596,0.911934
8283,P00966,W,R,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,0,0,0,0.001,,,,0.001,4399,641,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.43,probably_damaging,0.998,deleterious,0,2.34151,13.79,P00966_W179R,W,R,179,WR,W179R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.461,-3.84,2.379,0.097,S,B,1.67,1.33,,,,0.00409684,0,0.139711,0.642344
8295,P00519,F,L,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,37817,12801,ENSG00000097007,ENST00000318560,CCDS35166.1,ABL1,0.28,possibly_damaging,0.448,tolerated,0.05,5.36008,34,P00519_F311L,F,L,311,FL,F311L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.241,-2.685,1.444,0.166,.,B,0.03,0.25,,,,0.000259946,0,0.00886471,0.841166
8388,Q99217,P,T,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,5156,2185,ENSG00000125363,ENST00000380712,CCDS14145.1,AMELX,0.34,probably_damaging,0.975,deleterious,0,3.89386,19.79,Q99217_P70T,P,T,70,PT,P70T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,0.000308401,0,0.0105171,0.997389
8851,Q00604,L,F,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,288,338,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.46,benign,0.292,deleterious,0.02,3.40407,17.5,Q00604_L61F,L,F,61,LF,L61F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.208,-3.353,2.145,,,,,,,,,0.0137002,0,0.467207,0.83028
8865,P17600,W,X,356,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.07,,,,,,,,,43632,4318,ENSG00000008056,ENST00000340666,CCDS35233.1,SYN1,0.53,,,,,4.79824,27.1,P17600_W356X,W,X,356,WX,W356X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
8872,Q9H237,W,X,74,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.09,,,,,,,,,1596,5,ENSG00000102312,ENST00000359882,CCDS14298.1,PORCN,0.16,,,,,5.55739,35,Q9H237_W74X,W,X,74,WX,W74X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
8875,Q15125,W,X,29,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.08,,,,,,,,,1989,3396,ENSG00000147155,ENST00000446158,,EBP,0.18,,,,,4.67185,25.8,Q15125_W29X,W,X,29,WX,W29X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00641371,0,0.218721,0.884171
8876,Q15125,R,X,63,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.11,,,,,,,,,2089,3296,ENSG00000147155,ENST00000446158,,EBP,0.39,,,,,7.04299,38,Q15125_R63X,R,X,63,RX,R63X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0069743,0.011976,0.237838,0.924423
8879,Q15125,R,H,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,407,3,ENSG00000147155,ENST00000495186,CCDS14300.1,EBP,0.64,probably_damaging,0.985,deleterious,0,3.90909,19.88,Q15125_R147H,R,H,147,RH,R147H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.336,-4.228,2.892,,,,,,0.712,,76.52,0.00584984,0,0.199492,0.851959
8880,Q15125,Q,X,175,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,1438,42,ENSG00000147155,ENST00000495186,CCDS14300.1,EBP,0.76,,,,,9.24183,42,Q15125_Q175X,Q,X,175,QX,Q175X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0103787,0,0.353936,0.921549
8888,P42768,R,H,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,579,2465,ENSG00000015285,ENST00000450772,,WAS,0.4,probably_damaging,0.999,deleterious,0,3.08175,16.29,P42768_R86H,R,H,86,RH,R86H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.312,-4.1,2.788,0.197,E,B,1.03,0,1.256,,41.04,0.000557554,0,0.0190137,0.688798
8889,P42768,R,L,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,579,2465,ENSG00000015285,ENST00000450772,,WAS,0.4,probably_damaging,0.998,deleterious,0,3.04206,16.15,P42768_R86L,R,L,86,RL,R86L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.312,-3.229,1.917,0.197,E,B,1.75,0,1.937,,41.04,0.000557554,0,0.0190137,0.757618
8906,Q9BZS1,F,L,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,6791,377,ENSG00000049768,ENST00000557224,,FOXP3,0.73,possibly_damaging,0.477,deleterious,0.02,4.01263,20.6,Q9BZS1_F332L,F,L,332,FL,F332L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.00304631,0,0.103885,0.958274
8925,P41229,R,W,699,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.07,,,,,,,,,270,346,ENSG00000126012,ENST00000452825,CCDS55417.1,KDM5C,0.51,probably_damaging,1,deleterious,0,3.59586,18.31,P41229_R699W,R,W,699,RW,R699W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
8950,P22557,S,G,555,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,8885,129,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.97,possibly_damaging,0.817,deleterious,0,4.33435,22.8,P22557_S555G,S,G,555,SG,S555G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,,,,,,,,,,,,0.0142543,0,0.486101,0.953633
8951,P22557,H,D,511,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,6918,4403,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.89,probably_damaging,1,deleterious,0,4.61244,25.2,P22557_H511D,H,D,511,HD,H511D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,,,,,,,,,,,,0.00314429,0,0.107227,0.966583
8966,Q5JTC6,R,X,358,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.04,,,,,,,,,1072,6098,ENSG00000184675,ENST00000374869,,FAM123B,0.45,,,,,7.18501,38,Q5JTC6_R358X,R,X,358,RX,R358X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9014,P98172,R,X,66,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.05,,,,,,,,,9687,3464,ENSG00000090776,ENST00000204961,CCDS14391.1,EFNB1,0.19,,,,,10.1996,43,P98172_R66X,R,X,66,RX,R66X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9016,P98172,G,S,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,10711,2440,ENSG00000090776,ENST00000204961,CCDS14391.1,EFNB1,0.44,probably_damaging,1,deleterious,0.01,5.5128,35,P98172_G151S,G,S,151,GS,G151S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,,,,0.814173
9017,P98172,G,V,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,10712,2439,ENSG00000090776,ENST00000204961,CCDS14391.1,EFNB1,0.44,probably_damaging,1,deleterious,0,4.83774,27.5,P98172_G151V,G,V,151,GV,G151V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,,,,0.765266
9018,P98172,M,V,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,10732,2419,ENSG00000090776,ENST00000204961,CCDS14391.1,EFNB1,0.46,possibly_damaging,0.894,deleterious,0,4.59493,25,P98172_M158V,M,V,158,MV,M158V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.541,-2.631,1.09,,,,,,,,,,,,0.882881
9051,P08034,R,W,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,724,31,ENSG00000169562,ENST00000447581,,GJB1,0.89,probably_damaging,1,deleterious,0,3.77574,19.17,P08034_R75W,R,W,75,RW,R75W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,H,A,1.67,-0.58,,,,0.000910857,0,0.0310621,0.486382
9068,P36021,L,P,471,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.05,,,,,,,,,108429,4686,ENSG00000147100,ENST00000276033,CCDS14426.1,SLC16A2,0.77,probably_damaging,0.909,deleterious,0,4.26392,22.2,P36021_L471P,L,P,471,LP,L471P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
9129,Q8TAB3,Q,X,85,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.09,,,,,,,,,253,116699,ENSG00000165194,ENST00000420881,CCDS48141.1,PCDH19,0.08,,,,,5.62129,36,Q8TAB3_Q85X,Q,X,85,QX,Q85X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000498722,0,0.0170075,0.98231
9135,O60220,E,X,24,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.58,0.08,,,,,,,,,155,853,ENSG00000126953,ENST00000372902,CCDS14481.1,TIMM8A,0.25,,,,,9.8344,43,O60220_E24X,E,X,24,EX,E24X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
9244,P29400,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.58,0.09,,,,,,,,,184,2966,ENSG00000188153,ENST00000361603,CCDS14543.1,COL4A5,0,,,deleterious,0,2.779,15.25,P29400_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.998,-2.535,0.537,,,,,,,,,0.000294046,0,0.0100276,0.978267
9303,P29400,G,E,423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.01,,,,,,,,,8668,36110,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.25,,,deleterious,0,3.49137,17.85,P29400_G423E,G,E,423,GE,G423E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.082,-2.094,1.012,,,,,,22.813,22.813,76.8,2.44e-05,0,0.000832332,0.971071
9356,P29400,G,D,772,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,24320,20458,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.46,,,deleterious,0,4.31075,22.6,P29400_G772D,G,D,772,GD,G772D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,,,,,2.65e-05,0,0.000904455,0.813644
9414,P29400,G,V,1223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.04,,,,,,,,,228500,29160,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.72,,,deleterious,0,3.86077,19.61,P29400_G1223V,G,V,1223,GV,G1223V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,1.16e-05,0,0.000395198,0.806553
9417,P29400,G,R,1255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.03,,,,,,,,,228595,29065,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.74,,,deleterious,0,4.08593,21,P29400_G1255R,G,R,1255,GR,G1255R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,9.34e-06,0,0.000318478,0.793499
9673,Q15738,Y,C,349,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.08,,,,,,,,,38073,324,ENSG00000147383,ENST00000440023,CCDS14717.1,NSDHL,0.94,probably_damaging,0.999,deleterious,0,3.16398,16.58,Q15738_Y349C,Y,C,349,YC,Y349C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,,,,,,,,,0.00225334,0,0.0768434,0.756178
9701,P32004,R,Q,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.09,,,,,,,,,4915,196,ENSG00000198910,ENST00000538883,,L1CAM,0.15,probably_damaging,1,deleterious,0,4.8206,27.3,P32004_R186Q,R,Q,186,RQ,R186Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000336825,0,0.0114864,0.995428
9733,#N/A,N,K,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.58,0.11,,,,,,,,,5271,5575,ENSG00000147380,ENST00000369935,CCDS14743.1,OPN1MW,0.26,benign,0.124,deleterious,0.01,0.691891,7.695,#N/A_N94K,N,K,94,NK,N94K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,,,,0.947543
55,Q9H251,V,I,43,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.59,0.05,0.034,0.01,0.046,0.04,0.05,0.09,0.002,0.03,1515,17526,ENSG00000107736,ENST00000398788,CCDS53540.1,CDH23,0.04,benign,0.02,tolerated,1,-0.851855,0.545,Q9H251_V43I,V,I,43,VI,V43I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,,,,0.959636
160,Q03518,D,G,697,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.59,0.11,0.17,0.223,0.141,0.19,0.14,0.17,0.29,0.17,1033,703,ENSG00000168394,ENST00000354258,CCDS4758.1,TAP1,0.86,benign,0,tolerated,1,0.433015,6.352,Q03518_D697G,D,G,697,DG,D697G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-2.391,-0.902,-1.489,0.628,.,b,0.46,2.05,42.53,42.53,62.38,0.00210328,0,0.0831801,0.926693
185,P50402,D,H,149,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.59,0.05,,,,0.002,0.01,,,,233,97,ENSG00000102119,ENST00000369842,CCDS14745.1,EMD,0.59,possibly_damaging,0.711,deleterious,0.01,1.49317,10.94,P50402_D149H,D,H,149,DH,D149H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.256,-2.974,1.718,,,,,,22.301,22.301,70.47,0.00296826,0,0.117388,1.05099
206,P35499,S,L,246,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.59,0.09,,,,,,,,,4597,29768,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.13,probably_damaging,0.961,deleterious,0,5.41986,35,P35499_S246L,S,L,246,SL,S246L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.115,-3.263,2.148,,,,,,0.165,,2.78,6.49e-05,0,0.0025678,0.821763
233,P21817,C,R,145,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.59,0.03,,,,,,,,,10457,143408,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.03,probably_damaging,0.978,,,2.31718,13.71,P21817_C145R,C,R,145,CR,C145R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.35,-4.068,2.718,0.019,T,A,1.66,-0.61,1.663,,19.21,,,,0.512648
244,P21817,H,Y,4882,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.59,0.13,,,,,,,,,151255,2610,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.97,,,,,3.11431,16.41,P21817_H4882Y,H,Y,4882,HY,H4882Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,,,,0.953139
266,P21817,T,I,4632,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.59,0.05,,,,,,,,,138482,15383,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.92,,,,,3.0502,16.18,P21817_T4632I,T,I,4632,TI,T4632I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,,,,0.9508
271,P21549,A,S,248,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.59,0.05,0,0,0,,,,,,3981,844,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.63,benign,0.158,tolerated,0.28,1.64597,11.46,P21549_A248S,A,S,248,AS,A248S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-2.163,-2.679,0.516,,H,A,0.27,-0.76,17.448,17.448,60.97,0.00398453,0,0.15758,0.878115
357,O95967,I,V,259,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.59,0.07,0.894,0.692,0.998,0.91,1,0.96,0.65,1,46,102,ENSG00000172638,ENST00000307998,CCDS8116.1,EFEMP2,0.58,benign,0,tolerated,1,-0.105741,3.482,O95967_I259V,I,V,259,IV,I259V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-2.104,-1.797,-0.307,,,,,,25.221,25.221,93.68,0.00217002,0,0.0858196,1.02198
90,Q9BXM7,R,X,246,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.04,,,,,,,,,1823,11365,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.42,,,,,7.21639,38,Q9BXM7_R246X,R,X,246,RX,R246X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00212709,0,0.072538,0.959275
112,P05186,N,S,340,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.03,0,0,0,,,,,,2104,1150,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.76,possibly_damaging,0.806,deleterious,0.02,4.33113,22.8,P05186_N340S,N,S,340,NS,N340S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.000998246,0,0.0340422,0.924471
139,Q5SW96,Q,X,136,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.09,,,,,,,,,2333,216,ENSG00000157978,ENST00000374338,CCDS30639.1,LDLRAP1,0.44,,,,,5.66213,36,Q5SW96_Q136X,Q,X,136,QX,Q136X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00278974,0,0.0951358,0.955443
145,Q9NZV5,R,Q,466,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,0,0,0,,,,,,84,2101,ENSG00000162430,ENST00000361547,CCDS41282.1,SEPN1,0.79,benign,0.035,tolerated,0.15,3.63694,18.5,Q9NZV5_R466Q,R,Q,466,RQ,R466Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.415,-2.18,0.765,,,,,,6.9,6.9,32.25,0.00594318,0,0.202675,0.952372
157,Q9NTQ9,F,L,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.13,,,,,,,,,1924,239,ENSG00000189433,ENST00000339480,CCDS383.1,GJB4,0.52,benign,0.018,tolerated,0.06,2.50531,14.34,Q9NTQ9_F137L,F,L,137,FL,F137L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.552,-2.276,0.724,0.627,H,A,0.03,-0.05,23.152,23.152,61.65,0.00388639,0,0.132534,0.896394
166,O75712,R,X,180,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.13,,,,0.001,0.002,,,,2798,1065,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.67,,,,,6.82973,38,O75712_R180X,R,X,180,RX,R180X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
168,O75712,A,T,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,0.003,0.01,,,,2756,1023,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.72,benign,0.192,tolerated,1,-0.724535,0.894,O75712_A194T,A,T,194,AT,A194T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.552,-2.285,0.733,,,,,,17.578,17.578,71.48,,,,1.05965
198,P11166,G,S,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,1884,94,ENSG00000117394,ENST00000439722,,SLC2A1,0.88,probably_damaging,1,deleterious,0,5.50324,35,P11166_G219S,G,S,219,GS,G219S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00253984,0,0.0866138,0.975197
206,P11166,R,L,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,361,446,ENSG00000117394,ENST00000439722,,SLC2A1,0.12,probably_damaging,0.995,deleterious,0,5.37994,34,P11166_R31L,R,L,31,RL,R31L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.000437243,0,0.0149109,0.980977
207,P11166,R,H,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,361,446,ENSG00000117394,ENST00000439722,,SLC2A1,0.12,possibly_damaging,0.851,deleterious,0.02,5.57453,35,P11166_R31H,R,H,31,RH,R31H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000437243,0,0.0149109,1.0021
208,P11166,R,C,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,360,447,ENSG00000117394,ENST00000439722,,SLC2A1,0.12,possibly_damaging,0.768,deleterious,0.03,4.64877,25.5,P11166_R31C,R,C,31,RC,R31C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000437243,0,0.0149109,0.954625
364,O43175,V,M,456,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,0.001,,,,0.001,4444,308,ENSG00000092621,ENST00000369407,,PHGDH,0.91,possibly_damaging,0.461,deleterious,0.01,3.8249,19.42,O43175_V456M,V,M,456,VM,V456M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00348285,0,0.118772,0.978315
371,Q6ZVN8,R,X,54,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.08,,,,,,,,,2062,121,ENSG00000168509,ENST00000336751,CCDS910.1,HFE2,0.13,,,,,4.415,23.4,Q6ZVN8_R54X,R,X,54,RX,R54X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00145285,0,0.049545,0.900587
376,Q6ZVN8,R,X,326,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.08,0,0,0,,,,,,3352,913,ENSG00000168509,ENST00000336751,CCDS910.1,HFE2,0.77,,,,,6.03353,37,Q6ZVN8_R326X,R,X,326,RX,R326X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00440432,0,0.150197,0.936594
381,P48165,E,K,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.15,,,,,,,,,141,1161,ENSG00000121634,ENST00000240986,CCDS30834.1,GJA8,0.11,probably_damaging,0.999,deleterious,0,5.12642,32,P48165_E48K,E,K,48,EK,E48K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,0.000255198,0,0.00870279,0.909449
383,P48165,R,Q,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,592,710,ENSG00000121634,ENST00000240986,CCDS30834.1,GJA8,0.46,probably_damaging,0.989,deleterious,0,4.68638,25.9,P48165_R198Q,R,Q,198,RQ,R198Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.000490455,0,0.0167255,0.857498
427,P02545,Y,X,178,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.08,,,,,,,,,121,19,ENSG00000160789,ENST00000392353,,LMNA,0.36,,,,,4.43749,23.6,P02545_Y178X,Y,X,178,YX,Y178X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00167633,0,0.0571663,0.8948
478,P50993,T,M,415,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.12,,,,,,,,,1335,8196,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.41,probably_damaging,0.967,deleterious,0,3.18345,16.65,P50993_T415M,T,M,415,TM,T415M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.533,-4.257,2.724,0.007,H,A,0.77,-0.82,1.254,,83.82,0.000390369,0,0.0133124,0.665801
481,P50993,D,N,718,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,7798,1733,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.7,probably_damaging,1,deleterious,0,4.27764,22.3,P50993_D718N,D,N,718,DN,D718N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.264,-2.905,1.641,0.024,T,A,0.14,-0.67,,,,0.000379895,0,0.0129552,0.808189
727,P49810,T,M,429,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,0,0,0,,,,,,4702,24,ENSG00000143801,ENST00000422240,CCDS44324.1,PSEN2,0.96,probably_damaging,0.999,deleterious,0,5.37549,34,P49810_T429M,T,M,429,TM,T429M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00607979,0,0.207333,0.946979
874,P11161,E,K,412,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,2952,1401,ENSG00000122877,ENST00000439032,CCDS7267.1,EGR2,0.87,benign,0.312,deleterious,0,3.76122,19.1,P11161_E412K,E,K,412,EK,E412K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,0.0051241,0.015625,0.174742,0.875149
893,P14222,C,Y,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,197,1536,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.5,probably_damaging,1,deleterious,0,3.26423,16.95,P14222_C279Y,C,Y,279,CY,C279Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.01,-4.072,3.062,0.048,H,A,0.25,1.76,,,,0.00262564,0,0.0895398,0.649591
1045,P05093,P,L,428,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,758,3,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.84,benign,0.31,deleterious,0,4.6167,25.2,P05093_P428L,P,L,428,PL,P428L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.879,-3.458,2.579,,,,,,,,,0.00263272,0,0.0897811,0.783704
1093,P21802,S,P,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,11196,2785,ENSG00000066468,ENST00000336553,,FGFR2,0.27,possibly_damaging,0.699,deleterious,0,4.49211,24.1,P21802_S178P,S,P,178,SP,S178P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.000614681,0,0.0209619,0.992445
1150,Q96AD5,D,G,166,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,391,149,ENSG00000177666,ENST00000336615,CCDS7718.1,PNPLA2,0.33,probably_damaging,0.998,deleterious,0,3.67013,18.65,Q96AD5_D166G,D,G,166,DG,D166G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.985,-2.95,1.965,,,,,,,,,0.000812503,0,0.027708,0.844438
1185,P51787,G,D,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.12,,,,,,,,,111435,36,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.4,probably_damaging,0.999,deleterious,0,4.22942,22,P51787_G269D,G,D,269,GD,G269D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.000309938,0,0.0105695,0.808386
1222,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.59,0.01,,,,,,,,,37,541,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,1.25437,10.09,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1223,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.59,0.01,,,,,,,,,35,543,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,0.988257,9.035,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1253,O14773,R,X,208,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.07,0,0,0,,,,,,172,29,ENSG00000166340,ENST00000299427,CCDS7770.1,TPP1,0.37,,,,,2.26012,13.51,O14773_R208X,R,X,208,RX,R208X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00289625,0,0.0987682,0.951177
1254,O14773,R,C,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,166,35,ENSG00000166340,ENST00000299427,CCDS7770.1,TPP1,0.37,probably_damaging,1,deleterious,0,2.71811,15.05,O14773_R206C,R,C,206,RC,R206C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.442,-4.927,3.485,0.056,H,A,1.66,-0.69,0.641,,68.38,0.00356249,0,0.121488,0.50691
1265,Q14654,Y,C,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,353,268,ENSG00000187486,ENST00000528731,CCDS53606.1,KCNJ11,0.8,probably_damaging,1,deleterious,0,3.58541,18.26,Q14654_Y243C,Y,C,243,YC,Y243C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00199347,0,0.0679815,0.940838
1303,P50461,K,R,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.13,0,0,0,,,,,,13832,6171,ENSG00000129170,ENST00000533783,CCDS7848.1,CSRP3,0.36,probably_damaging,0.935,deleterious,0,3.77935,19.19,P50461_K69R,K,R,69,KR,K69R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.265,-2.768,1.503,1.142,.,a,1.14,0,,,,0.00348374,0,0.118803,0.893392
1310,Q9Y345,T,M,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,0,0,0,,,,,,27127,28170,ENSG00000165970,ENST00000525748,CCDS7854.1,SLC6A5,0.53,probably_damaging,0.998,deleterious,0,4.97865,29.1,Q9Y345_T425M,T,M,425,TM,T425M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.398,-4.291,2.893,,,,,,0.473,,31.62,0.000723773,0,0.0246821,0.84537
1462,P11217,Q,E,666,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,1459,592,ENSG00000068976,ENST00000164139,CCDS8079.1,PYGM,0.79,possibly_damaging,0.66,deleterious,0.02,4.61033,25.2,P11217_Q666E,Q,E,666,QE,Q666E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,-1.699,-2.447,0.748,0.039,E,b,0.4,-0.77,,,,0.000488548,0,0.0166605,0.824038
1497,#N/A,M,R,427,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,0.002,0.001,0.003,0.001,,0.003,,0.003,2699,878,ENSG00000256349,ENST00000419755,,CTD-3074O7.11,0.68,possibly_damaging,0.46,deleterious,0.02,3.77532,19.17,#N/A_M427R,M,R,427,MR,M427R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,,,,0.952302
1551,O75197,Q,X,853,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.19,,,,,,,,,3713,547,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.53,,,,,8.10078,40,O75197_Q853X,Q,X,853,QX,Q853X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000239384,0,0.0081635,0.98231
1596,Q9UBM7,W,C,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.13,,,,,,,,,7,217,ENSG00000172893,ENST00000525137,,DHCR7,0.15,probably_damaging,0.999,deleterious,0,4.24472,22.1,Q9UBM7_W37C,W,C,37,WC,W37C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.501,-4.673,3.172,,,,,,0.794,,74.11,0.00242153,0.00456621,0.082579,0.811794
1785,P02647,Q,X,86,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.05,,,,,,,,,173,539,ENSG00000118137,ENST00000375329,,APOA1,0.35,,,,,5.9642,36,P02647_Q86X,Q,X,86,QX,Q86X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0052349,0,0.178521,0.937083
1834,Q9BXJ0,S,R,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,1225,632,ENSG00000223953,ENST00000528368,CCDS8420.1,C1QTNF5,0.67,possibly_damaging,0.869,deleterious,0,4.21608,21.9,Q9BXJ0_S163R,S,R,163,SR,S163R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,0.0070978,0,0.24205,0.9335
1873,Q9UKU7,R,Q,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,848,159,ENSG00000151498,ENST00000543332,,ACAD8,0.9,probably_damaging,0.999,deleterious,0,5.68006,36,Q9UKU7_R204Q,R,Q,204,RQ,R204Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00119809,0,0.0408575,0.919126
1874,Q9UKU7,R,W,330,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,400,100,ENSG00000151498,ENST00000281182,CCDS8498.1,ACAD8,0.8,probably_damaging,1,deleterious,0,2.54198,14.46,Q9UKU7_R330W,R,W,330,RW,R330W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,0.056,H,A,1.67,-0.8,,,,0.00119915,0,0.0408934,0.511528
1933,P19438,T,M,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,381,86,ENSG00000067182,ENST00000366159,,TNFRSF1A,0.36,probably_damaging,0.994,deleterious,0.01,2.42457,14.07,P19438_T79M,T,M,79,TM,T79M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.384,-4.448,3.064,0.122,.,B,0.77,-0.85,1.072,,71.65,0.00156792,0,0.0534694,0.551835
2021,P02458,G,S,1197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,1475,618,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.8,,,deleterious,0.02,4.03828,20.7,P02458_G1197S,G,S,1197,GS,G1197S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.074,-3.001,1.927,,,,,,1.635,,31.27,0.000267466,0,0.00912114,0.925667
2025,P02458,G,E,1053,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,162,2254,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.71,,,deleterious,0,3.26675,16.96,P02458_G1053E,G,E,1053,GE,G1053E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.01,-3.493,2.483,,,,,0,0.319,,6.19,9.05e-05,0,0.0030865,0.640475
2085,P37023,R,W,388,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,394,3214,ENSG00000139567,ENST00000550683,,ACVRL1,0.75,probably_damaging,1,deleterious,0,3.51243,17.94,P37023_R388W,R,W,388,RW,R388W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
2086,P37023,M,R,390,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,401,3207,ENSG00000139567,ENST00000550683,,ACVRL1,0.75,probably_damaging,0.999,deleterious,0,4.0315,20.7,P37023_M390R,M,R,390,MR,M390R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,,,,,,,,,,,,,,,0.952302
2358,O95452,A,V,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,7761,1247,ENSG00000121742,ENST00000241124,CCDS9291.1,GJB6,0.34,probably_damaging,0.98,deleterious,0,4.96056,28.9,O95452_A88V,A,V,88,AV,A88V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.403,-3.103,1.7,,,,,,3.59,,50.19,0.00259887,0,0.0886267,0.944731
2363,Q13326,E,K,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,143446,90,ENSG00000102683,ENST00000537476,CCDS9299.1,SGCG,0.9,probably_damaging,0.999,deleterious,0,4.25659,22.2,Q13326_E263K,E,K,263,EK,E263K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,0.01405,0,0.479133,0.864001
2477,P02462,G,S,749,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,127780,30399,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0.45,probably_damaging,1,deleterious,0,3.80619,19.33,P02462_G749S,G,S,749,GS,G749S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.272,-3.059,1.787,,,,,,2.003,2.003,3.77,0.000702309,0.00326087,0.0239502,0.876722
2518,P12883,R,H,870,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,10880,12101,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.45,probably_damaging,0.918,deleterious,0,4.34343,22.8,P12883_R870H,R,H,870,RH,R870H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.657,-4.091,2.434,,,,,,1.729,,84.7,0.000258476,0,0.00881457,0.884429
2520,P12883,F,L,764,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,10306,12675,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.39,benign,0.188,deleterious,0,3.05334,16.19,P12883_F764L,F,L,764,FL,F764L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.351,-2.644,1.293,,E,B,0.03,0,,,,4.37e-05,0,0.0014887,0.843786
2561,P22735,R,H,389,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,1492,3213,ENSG00000092295,ENST00000206765,CCDS9622.1,TGM1,0.48,probably_damaging,0.997,deleterious,0,4.73496,26.4,P22735_R389H,R,H,389,RH,R389H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.000312459,0,0.0106555,0.825058
2656,Q96NR8,R,X,62,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.07,0,0,0,0.001,,,0.004,,2115,9863,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.2,,,,,5.36004,34,Q96NR8_R62X,R,X,62,RX,R62X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00216636,0,0.0738773,0.959768
2729,P16473,F,L,525,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.13,,,,,,,,,26782,2670,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.69,possibly_damaging,0.761,deleterious,0.01,3.56223,18.16,P16473_F525L,F,L,525,FL,F525L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-2.211,-3.599,1.388,,,,,,5.747,,22.91,0.00166592,0,0.0568113,0.895477
2731,P16473,A,T,553,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,26700,2588,ENSG00000165409,ENST00000298171,CCDS9872.1,TSHR,0.72,probably_damaging,0.981,deleterious,0,4.18457,21.7,P16473_A553T,A,T,553,AT,A553T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-0.88,-3.458,2.578,,,,,,3.634,,56.41,0.000524062,0,0.0178716,0.860996
2788,P68032,M,V,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,475,1625,ENSG00000159251,ENST00000290378,CCDS10041.1,ACTC1,0.33,benign,0.058,,,2.66747,14.88,P68032_M125V,M,V,125,MV,M125V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-2.733,-2.457,-0.276,0.006,I,A,0.11,0,,,,0.000834239,0,0.0284493,0.942148
2789,P68032,H,Y,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,580,1730,ENSG00000159251,ENST00000290378,CCDS10041.1,ACTC1,0.24,probably_damaging,0.985,,,4.2896,22.4,P68032_H90Y,H,Y,90,HY,H90Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-2.033,-2.866,0.833,0.153,H,A,0.38,0,,,,0.000222985,0,0.00760425,0.835708
2811,Q8IWY9,P,L,1130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,0,0,0,,,,,,11,655,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.92,probably_damaging,0.999,deleterious,0.05,3.97065,20.3,Q8IWY9_P1130L,P,L,1130,PL,P1130L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.007,-3.51,2.503,,,,,,2.363,,39.69,0.00269645,0,0.0919544,0.832255
2826,Q9NRD8,Q,X,686,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.04,,,,,,,,,7238,7188,ENSG00000140279,ENST00000389039,CCDS10117.1,DUOX2,0.44,,,,,8.27041,40,Q9NRD8_Q686X,Q,X,686,QX,Q686X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
2874,P11150,S,F,289,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,0.001,0,0.001,0.001,,,,0.001,6639,186,ENSG00000166035,ENST00000299022,CCDS10166.1,LIPC,0.58,probably_damaging,0.996,deleterious,0,3.14955,16.53,P11150_S289F,S,F,289,SF,S289F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.156,-2.425,1.269,,,,,,30.821,30.821,79.96,0.00117975,0,0.040232,0.94532
2876,P09493,E,K,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,112,12981,ENSG00000140416,ENST00000560970,,TPM1,0.08,possibly_damaging,0.694,deleterious,0,5.40256,34,P09493_E21K,E,K,21,EK,E21K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
3023,P49815,R,X,468,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.04,,,,,,,,,270,1243,ENSG00000103197,ENST00000439673,,TSC2,0.27,,,,,5.5972,35,P49815_R468X,R,X,468,RX,R468X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3082,Q99732,W,G,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,2881,141,ENSG00000189067,ENST00000339430,CCDS32386.1,LITAF,0.72,probably_damaging,0.999,deleterious,0,3.96468,20.3,Q99732_W116G,W,G,116,WG,W116G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.198,-3.135,1.937,,,,,,,,,0.0122128,0.0222222,0.416483,0.775824
3132,O95255,L,I,1226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,63894,9408,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.82,benign,0.284,tolerated,0.2,2.23455,13.43,O95255_L1226I,L,I,1226,LI,L1226I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,-1.446,-2.036,0.59,,,,,,15.609,15.609,78.18,0.000601538,0,0.0205137,1.01954
3138,O95255,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.59,0.04,,,,,,,,,61870,11432,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,,,,,,2.70983,15.02,O95255_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3147,O95255,T,M,1130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,0,0,0,,,,,,60325,12977,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.75,probably_damaging,0.97,deleterious,0,4.29177,22.5,O95255_T1130M,T,M,1130,TM,T1130M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.058,-3.219,2.161,,,,,,13.029,13.029,27.15,0.000431546,0,0.0147166,0.862455
3148,O95255,M,I,1127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,60317,12985,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.75,benign,0.003,tolerated,0.12,2.64768,14.81,O95255_M1127I,M,I,1127,MI,M1127I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-2.897,-2.319,-0.578,,,,,,21.842,21.842,66.53,0.000251205,0,0.00856661,1.04208
3149,O95255,M,T,1127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,60316,12986,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.75,benign,0.087,deleterious,0,3.18837,16.67,O95255_M1127T,M,T,1127,MT,M1127T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.897,-3.82,0.923,,,,,,4.242,,66.53,0.000251205,0,0.00856661,0.976534
3150,O95255,R,P,1114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,60277,13025,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.74,probably_damaging,1,deleterious,0,5.01455,29.5,O95255_R1114P,R,P,1114,RP,R1114P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-0.892,-4.064,3.172,,,,,,1.471,,30.34,0.000269154,0,0.0091787,0.811345
3151,O95255,R,H,1114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,0,0,0,,,,,,60277,13025,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.74,probably_damaging,1,deleterious,0,5.40459,34,O95255_R1114H,R,H,1114,RH,R1114H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.892,-3.306,2.414,,,,,,19.244,19.244,30.34,0.000269154,0,0.0091787,0.860202
3153,O95255,L,R,1063,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,57694,15608,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.71,probably_damaging,0.94,deleterious,0,4.24165,22.1,O95255_L1063R,L,R,1063,LR,L1063R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.607,-4.433,2.826,,,,,,2.687,,29.34,0.000818032,0,0.0278966,0.832684
3167,O95255,R,S,881,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,1588,2852,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.59,benign,0,tolerated,0.74,-0.65365,1.127,O95255_R881S,R,S,881,RS,R881S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-2.384,-2.689,0.305,,,,,,17.266,17.266,74.12,0.000865151,0,0.0295034,0.976231
3173,O95255,L,P,826,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,44,4483,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.55,probably_damaging,0.968,deleterious,0,3.05769,16.21,O95255_L826P,L,P,826,LP,L826P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.29,-4.364,3.074,,,,,,1.045,,30.34,0.000753142,0,0.0256837,0.828617
3175,O95255,T,M,811,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,89,4528,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.54,probably_damaging,0.999,deleterious,0,3.55458,18.13,O95255_T811M,T,M,811,TM,T811M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-0.725,-4.66,3.935,0.122,.,B,0.77,-1.11,0.809,,46.51,0.000238297,0,0.00812641,0.57674
3191,O95255,W,X,721,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.01,,,,,,,,,40938,792,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.48,,,,,4.68269,25.9,O95255_W721X,W,X,721,WX,W721X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00057476,0,0.0196005,0.956807
3209,O95255,S,P,535,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,33239,8491,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.36,probably_damaging,0.997,deleterious,0.01,3.8071,19.33,O95255_S535P,S,P,535,SP,S535P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.704,-4.226,2.522,,,,,,1.359,,50.3,0.000518604,0,0.0176855,0.863811
3216,O95255,A,P,455,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,30537,11193,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.3,probably_damaging,0.994,deleterious,0,4.38728,23.2,O95255_A455P,A,P,455,AP,A455P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.769,-4.035,2.266,,,,,,2.441,,83.83,0.000156734,0,0.00534494,0.885661
3224,O95255,Q,X,378,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.05,,,,,,,,,21390,45,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.25,,,,,3.14437,16.51,O95255_Q378X,Q,X,378,QX,Q378X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00027374,0,0.0093351,0.98231
3225,O95255,N,D,370,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,0.001,0,0.001,,,,,,21366,69,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.25,benign,0.133,deleterious,0.01,2.7689,15.22,O95255_N370D,N,D,370,ND,N370D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-2.684,-4.004,1.32,,,,,,3.967,,85.63,0.000555067,0,0.0189289,0.984696
3226,O95255,T,R,364,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,0,0,0,,,,,,21349,86,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.24,probably_damaging,0.93,deleterious,0,3.85066,19.56,O95255_T364R,T,R,364,TR,T364R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.473,-4.075,2.602,,,,,,3.193,,80.64,0.000543269,0,0.0185266,0.85388
3272,P04075,D,G,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,14,69,ENSG00000149925,ENST00000569545,CCDS10668.1,ALDOA,0.35,benign,0.431,deleterious,0,3.95873,20.3,P04075_D129G,D,G,129,DG,D129G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.495,-2.994,1.499,0.933,T,B,0.46,-0.52,2.912,,79.67,0.0012642,0,0.0431117,0.925765
3357,P04180,N,K,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.01,,,,,,,,,2460,225,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.57,benign,0.372,deleterious,0,2.76318,15.2,P04180_N252K,N,K,252,NK,N252K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.224,-3.153,1.929,,,,,,3.366,,74.32,0.00350621,0,0.119569,0.942959
3425,P55291,R,W,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.12,0,0,0,,,,,,8505,3334,ENSG00000129910,ENST00000289746,CCDS10976.1,CDH15,0.11,possibly_damaging,0.885,deleterious,0.02,3.4841,17.82,P55291_R92W,R,W,92,RW,R92W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.073,-5.042,2.969,,,,,,0.591,,82.06,0.000984069,0,0.0335588,0.856623
3465,O60931,G,D,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,1562,5,ENSG00000040531,ENST00000046640,CCDS11031.1,CTNS,0.46,probably_damaging,0.999,deleterious,0,5.07106,31,O60931_G169D,G,D,169,GD,G169D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,,,,,0.00253004,0,0.0862797,0.786089
3477,P07359,L,F,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,524,2210,ENSG00000185245,ENST00000329125,CCDS54068.1,GP1BA,0.11,probably_damaging,0.932,deleterious,0.02,3.78585,19.22,P07359_L73F,L,F,73,LF,L73F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-0.89,-3.526,2.636,0.036,.,B,0.03,0.05,,,,0.000928181,0,0.0316529,0.749134
3512,P04637,E,K,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.03,,,,,,,,,604,27,ENSG00000141510,ENST00000413465,,TP53,0.91,probably_damaging,0.997,deleterious,0,3.89632,19.81,P04637_E258K,E,K,258,EK,E258K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.729,-3.065,2.336,0.209,E,B,1.3,0,,,,0.000239329,0,0.00816161,0.696363
3581,Q96NT5,P,R,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,390,140,ENSG00000076351,ENST00000440501,,SLC46A1,0.93,probably_damaging,0.999,tolerated,0.05,4.80332,27.1,Q96NT5_P425R,P,R,425,PR,P425R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.347,-3.758,2.411,,,,,,1.976,,50.54,0.00881194,0,0.300505,0.761116
3654,P08779,L,Q,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,448,2528,ENSG00000186832,ENST00000301653,CCDS11401.1,KRT16,0.27,probably_damaging,1,deleterious,0,4.55785,24.7,P08779_L128Q,L,Q,128,LQ,L128Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-0.941,-3.999,3.058,,,,,,,,,0.000763818,0,0.0260478,0.813467
3655,P08779,R,P,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,445,2531,ENSG00000186832,ENST00000301653,CCDS11401.1,KRT16,0.27,probably_damaging,0.998,deleterious,0,3.98854,20.4,P08779_R127P,R,P,127,RP,R127P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.181,-3.796,2.615,,,,,,0.929,,50.95,0.000995903,0,0.0339623,0.818622
3700,P35575,R,C,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,10437,2135,ENSG00000131482,ENST00000253801,CCDS11446.1,G6PC,0.83,probably_damaging,0.997,deleterious,0,4.27142,22.3,P35575_R295C,R,C,295,RC,R295C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.571,-4.996,3.425,,,,,,0.519,,60.22,,,,0.734959
3708,Q9BUM1,Y,X,47,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.13,,,,,,,,,376,5238,ENSG00000141349,ENST00000269097,CCDS11476.1,G6PC3,0.14,,,,,7.10096,38,Q9BUM1_Y47X,Y,X,47,YX,Y47X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00279065,0,0.0951671,0.945391
3721,P02730,E,K,658,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,0,0,0,0,,,,,13561,6196,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.72,benign,0.018,tolerated,0.23,1.88819,12.27,P02730_E658K,E,K,658,EK,E658K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-2.696,-2.73,0.034,,,,,,23.145,23.145,93.85,0.00154252,0,0.0526031,1.01038
3727,P02730,R,C,589,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,12434,7323,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.65,probably_damaging,1,deleterious,0,5.17026,32,P02730_R589C,R,C,589,RC,R589C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.062,-3.366,2.304,,,,,,23.236,23.236,59.17,0.000587108,0,0.0200216,0.823298
3728,P02730,R,S,589,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,12434,7323,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.65,probably_damaging,1,deleterious,0,5.26539,33,P02730_R589S,R,S,589,RS,R589S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.062,-3.51,2.448,,,,,,2.495,,59.17,0.000587108,0,0.0200216,0.826696
3737,P02730,E,K,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,0.012,0.005,0.016,0.01,,0.01,,0.02,442,820,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.04,benign,0.07,tolerated,0.06,2.07876,12.91,P02730_E40K,E,K,40,EK,E40K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.745,-2.443,0.698,,,,,,23.236,23.236,83.86,0.000893893,0,0.0304836,1.01108
3738,P28799,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.59,0.05,,,,,,,,,4043,3937,ENSG00000030582,ENST00000053867,CCDS11483.1,GRN,0,probably_damaging,0.997,deleterious,0,3.48335,17.82,P28799_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.406,-3.239,1.833,,,,,,,,,0.000628475,0,0.0214323,0.907487
3739,P28799,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.59,0.05,,,,,,,,,4044,3936,ENSG00000030582,ENST00000053867,CCDS11483.1,GRN,0,probably_damaging,0.993,deleterious,0,4.2195,21.9,P28799_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.406,-2.927,1.521,,,,,,,,,0.000628475,0,0.0214323,0.927243
3769,P14136,R,C,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,249,3949,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.18,possibly_damaging,0.527,deleterious,0,3.90038,19.83,P14136_R79C,R,C,79,RC,R79C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.326,-4.828,3.502,,,,,,1.004,,55.09,0.000598928,0,0.0204247,0.807773
3770,P14136,D,E,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,248,3950,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.18,probably_damaging,0.975,deleterious,0,4.58456,24.9,P14136_D78E,D,E,78,DE,D78E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.138,-2.728,1.59,,,,,,2.727,,55.09,0.000956783,0,0.0326283,0.945841
3868,P22748,R,S,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,8416,1185,ENSG00000167434,ENST00000300900,CCDS11624.1,CA4,0.7,probably_damaging,1,deleterious,0,4.37002,23.1,P22748_R219S,R,S,219,RS,R219S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.237,-3.33,2.093,0.085,E,B,0.93,-1.07,0.476,,18.91,0.00264252,0,0.0901154,0.562798
3899,P35499,P,S,1158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.03,,,,,,,,,27311,7054,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.63,probably_damaging,0.999,deleterious,0,4.79333,27,P35499_P1158S,P,S,1158,PS,P1158S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.91,-3.387,2.477,,,,,,1.767,,55.39,6.65e-05,0,0.00226891,0.85947
3904,P35499,I,T,693,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,15459,18906,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.38,probably_damaging,0.999,deleterious,0,3.74459,19.01,P35499_I693T,I,T,693,IT,I693T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-0.973,-3.36,2.387,,,,,,,,,3.63e-05,0,0.00123851,0.828272
3943,P16144,R,W,1281,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,408,3588,ENSG00000132470,ENST00000579662,,ITGB4,0.73,,,,,2.41787,14.04,P16144_R1281W,R,W,1281,RW,R1281W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,0.483,S,a,1.67,-0.15,,,,0.000342868,0,0.0116925,0.704376
3980,P51688,R,Q,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.16,0,0,0,,,,,,51,102,ENSG00000181523,ENST00000576707,,SGSH,0.57,probably_damaging,0.993,deleterious,0.01,3.94765,20.2,P51688_R63Q,R,Q,63,RQ,R63Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00169103,0,0.0576675,0.92885
4087,P02766,R,H,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,0.004,0.01,,,,6876,410,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.84,benign,0.003,tolerated,1,-1.11449,0.13,P02766_R124H,R,H,124,RH,R124H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.255,-1.526,-0.729,0.051,E,B,1.03,0.82,33.236,33.236,93.88,0.00894603,0,0.305078,0.950871
4090,P02766,L,M,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,6896,390,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.89,probably_damaging,0.97,deleterious,0,3.40952,17.52,P02766_L131M,L,M,131,LM,L131M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,-1.143,-3.246,2.103,0.015,E,B,0,-0.9,4.628,4.628,72.11,0.00583894,0,0.19912,0.738352
4092,P02766,Y,C,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,6906,380,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.91,probably_damaging,0.988,deleterious,0,3.10514,16.37,P02766_Y134C,Y,C,134,YC,Y134C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.483,-3.825,2.342,0.525,T,A,0.25,-0.77,37.151,37.151,73.47,0.00891659,0.0769231,0.304074,0.741471
4093,P02766,T,M,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,0.002,0.001,0.003,0.002,,,,0.01,6921,365,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.95,probably_damaging,0.995,deleterious,0,4.31517,22.6,P02766_T139M,T,M,139,TM,T139M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.249,-4.639,3.39,0.381,E,B,0.77,-0.76,0.983,,74.15,0.0305624,0,1.04224,0.725676
4110,P15884,R,P,444,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.13,,,,,,,,,73629,768,ENSG00000196628,ENST00000570177,,TCF4,0.83,probably_damaging,0.997,deleterious,0,5.28783,33,P15884_R444P,R,P,444,RP,R444P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00196241,0,0.0669222,0.945389
4112,P22830,F,S,417,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,35921,1224,ENSG00000066926,ENST00000262093,CCDS11964.1,FECH,0.99,probably_damaging,0.999,deleterious,0,5.08881,31,P22830_F417S,F,S,417,FS,F417S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.351,-3.346,1.995,0.172,H,A,0.85,-0.24,,,,0.0253877,0.166667,0.865773,0.661502
4241,P50570,G,C,537,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,94236,19589,ENSG00000079805,ENST00000359692,CCDS45968.1,DNM2,0.62,probably_damaging,0.997,deleterious,0,4.87316,27.9,P50570_G537C,G,C,537,GC,G537C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.008,-4.769,3.761,0.184,S,g,0.75,0,,,,4.38e-05,0,0.00149311,0.651215
4281,O00555,I,L,1809,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,22896,1105,ENSG00000141837,ENST00000573710,,CACNA1A,0.72,probably_damaging,0.996,,,3.78394,19.21,O00555_I1809L,I,L,1809,IL,I1809L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,0.000229507,0,0.00782666,1.00248
4344,P82251,G,R,259,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.12,,,,,,,,,9839,29424,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.53,probably_damaging,0.997,deleterious,0,3.75505,19.07,P82251_G259R,G,R,259,GR,G259R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.218,-3.715,2.497,,,,,,1.942,,61.4,0.00279073,0,0.0951698,0.83219
4360,P06744,L,P,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,28893,8394,ENSG00000105220,ENST00000415930,CCDS54246.1,GPI,0.62,probably_damaging,1,deleterious,0,3.95446,20.2,P06744_L350P,L,P,350,LP,L350P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.000126483,0,0.00431331,0.982941
4365,P81172,R,X,56,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.07,,,,,,,,,2446,188,ENSG00000105697,ENST00000222304,CCDS12454.1,HAMP,0.67,,,,,2.54963,14.49,P81172_R56X,R,X,56,RX,R56X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0276925,0.0357143,0.944371,0.933515
4366,P81172,G,D,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,0.002,0,0.003,0.001,,,,0.001,2492,142,ENSG00000105697,ENST00000222304,CCDS12454.1,HAMP,0.85,benign,0.385,deleterious,0.02,2.38072,13.92,P81172_G71D,G,D,71,GD,G71D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.658,-3.284,1.626,,,,,,5.28,,70.24,0.0488207,0.153846,1.66489,1.01109
4381,P21817,T,A,4632,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,138481,15384,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.92,,,,,2.90348,15.67,P21817_T4632A,T,A,4632,TA,T4632A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,,,,0.950942
4389,O43707,K,E,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.12,,,,,,,,,548,863,ENSG00000130402,ENST00000252699,CCDS12518.1,ACTN4,0.28,possibly_damaging,0.76,deleterious,0,5.29638,34,O43707_K255E,K,E,255,KE,K255E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.416,-2.672,1.256,0.244,H,A,1.3,0,,,,0.000269034,0,0.0091746,0.859686
4391,O43707,S,P,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.13,,,,,,,,,527,884,ENSG00000130402,ENST00000252699,CCDS12518.1,ACTN4,0.29,probably_damaging,0.998,deleterious,0.01,4.84519,27.6,O43707_S262P,S,P,262,SP,S262P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.519,-3.336,1.817,0.136,T,A,0.25,0,,,,7.54e-05,0,0.00257179,0.788839
4402,P01137,C,R,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,11718,11301,ENSG00000105329,ENST00000221930,CCDS33031.1,TGFB1,0.58,probably_damaging,0.996,deleterious,0,3.91003,19.88,P01137_C225R,C,R,225,CR,C225R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,0.076,E,B,1.66,-0.39,,,,0.00235885,0,0.0804417,0.499157
4471,P19526,L,H,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.13,,,,,,,,,4600,2780,ENSG00000174951,ENST00000310160,CCDS12733.1,FUT1,0.45,probably_damaging,0.979,deleterious,0,2.73196,15.1,P19526_L164H,L,H,164,LH,L164H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.238,-4.628,3.39,,,,,,1.377,,80.55,0.00432795,0,0.147592,0.844604
4486,Q7Z406,G,C,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,0.003,0.001,0.004,0.003,,0.01,,0.01,33918,66266,ENSG00000105357,ENST00000425460,CCDS46151.1,MYH14,0.19,probably_damaging,1,deleterious,0,2.62317,14.73,Q7Z406_G384C,G,C,384,GC,G384C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,,,,,,,,,,,,,,,0.933565
4540,O15232,A,D,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,6788,12841,ENSG00000132031,ENST00000407540,CCDS46226.1,MATN3,0.45,probably_damaging,0.993,deleterious,0,4.37721,23.1,O15232_A219D,A,D,219,AD,A219D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.154,-3.504,2.35,,,,,,1.748,,46.91,0.000543549,0,0.0185362,0.851548
4583,P39210,W,X,120,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.04,,,,,,,,,57,209,ENSG00000115204,ENST00000380044,CCDS1748.1,MPV17,0.68,,,,,4.21739,21.9,P39210_W120X,W,X,120,WX,W120X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
4586,P39210,R,W,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.03,,,,,,,,,46,731,ENSG00000115204,ENST00000405076,,MPV17,0.44,probably_damaging,0.987,deleterious,0,3.65745,18.59,P39210_R50W,R,W,50,RW,R50W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.447,-2.278,0.831,,,,,,32.727,32.727,65.91,,,,0.905937
4597,Q9UI10,A,V,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,681,367,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.43,possibly_damaging,0.846,deleterious,0,5.53891,35,Q9UI10_A227V,A,V,227,AV,A227V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00451642,0,0.154019,0.95391
4598,Q9UI10,R,Q,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,0,0,0,,,,,,624,310,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.4,benign,0.114,tolerated,0.07,3.76068,19.09,Q9UI10_R208Q,R,Q,208,RQ,R208Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00446976,0,0.152428,0.958593
4645,Q9H221,R,Q,263,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,0.001,0.002,,,0.001,13728,25775,ENSG00000143921,ENST00000272286,CCDS1815.1,ABCG8,0.39,benign,0.383,tolerated,0.08,4.55018,24.6,Q9H221_R263Q,R,Q,263,RQ,R263Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.101,-3.305,2.204,,,,,,,,,0.0015285,0,0.0521249,0.749079
4721,O75923,W,C,1016,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,162,617,ENSG00000135636,ENST00000409582,CCDS46324.1,DYSF,0.48,probably_damaging,1,deleterious,0,4.62787,25.3,O75923_W1016C,W,C,1016,WC,W1016C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,0.000164184,0,0.00559903,0.947794
4760,Q6P4Q7,S,Y,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,696,50294,ENSG00000158158,ENST00000377075,CCDS2024.2,CNNM4,0.26,probably_damaging,0.992,deleterious,0,3.95313,20.2,Q6P4Q7_S200Y,S,Y,200,SY,S200Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.146,-3.98,2.834,,,,,,,,,0.000903812,0,0.0308218,0.78709
4761,Q6P4Q7,R,Q,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.12,,,,,,,,,804,50186,ENSG00000158158,ENST00000377075,CCDS2024.2,CNNM4,0.3,probably_damaging,0.973,deleterious,0,5.20304,33,Q6P4Q7_R236Q,R,Q,236,RQ,R236Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.000309686,0,0.0105609,0.857272
4764,Q6P4Q7,Q,X,717,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.05,,,,,,,,,20748,447,ENSG00000158158,ENST00000377075,CCDS2024.2,CNNM4,0.93,,,,,7.09929,38,Q6P4Q7_Q717X,Q,X,717,QX,Q717X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00399814,0,0.136345,0.955443
4805,O00499,D,N,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,38010,20954,ENSG00000136717,ENST00000351659,CCDS2140.1,BIN1,0.3,probably_damaging,0.973,deleterious,0,5.14864,32,O00499_D151N,D,N,151,DN,D151N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.934,-3.334,2.4,,,,,,3.252,,50.93,0.000352348,0,0.0120158,0.871107
5309,Q9NZR4,R,W,166,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,0,0,0,,,,,,2689,900,ENSG00000100987,ENST00000429762,,VSX1,0.55,probably_damaging,0.998,deleterious,0,3.40188,17.49,Q9NZR4_R166W,R,W,166,RW,R166W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.219,-5.172,3.953,,,,,,0.082,,12.33,0.00149877,0,0.0511112,0.68942
5320,Q9UBC3,D,G,809,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,27939,490,ENSG00000088305,ENST00000201963,CCDS13204.1,DNMT3B,0.96,probably_damaging,1,deleterious,0,4.92075,28.4,Q9UBC3_D809G,D,G,809,DG,D809G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00831616,0,0.283598,0.926245
5321,Q9UBC3,V,M,810,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,27941,488,ENSG00000088305,ENST00000201963,CCDS13204.1,DNMT3B,0.96,probably_damaging,1,deleterious,0,5.13364,32,Q9UBC3_V810M,V,M,810,VM,V810M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00784819,0,0.267639,0.950083
5390,O95528,G,W,426,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,16825,10015,ENSG00000197496,ENST00000359271,CCDS13402.1,SLC2A10,0.79,probably_damaging,0.998,deleterious,0,3.04808,16.17,O95528_G426W,G,W,426,GW,G426W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-1.001,-5.117,4.116,,,,,,0.403,,80.22,,,,0.787118
5407,P14138,C,F,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,20424,3620,ENSG00000124205,ENST00000371028,CCDS13477.1,EDN3,0.67,probably_damaging,0.999,deleterious,0,2.08477,12.93,P14138_C159F,C,F,159,CF,C159F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.111,-3.923,2.812,,,,,,,,,0.00377259,0,0.128653,0.760884
5431,O43526,V,G,250,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,30166,8794,ENSG00000075043,ENST00000359689,,KCNQ2,0.29,benign,0.361,deleterious,0,3.41682,17.55,O43526_V250G,V,G,250,VG,V250G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.089,-3.536,2.447,,,,,,5.901,,88.07,0.000449548,0,0.0153305,0.84713
5432,O43526,S,X,247,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.08,,,,,,,,,30157,8803,ENSG00000075043,ENST00000359689,,KCNQ2,0.28,,,,,6.7192,38,O43526_S247X,S,X,247,SX,S247X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000347312,0,0.0118441,0.980409
5550,P05107,L,P,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,7213,34,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.19,probably_damaging,1,deleterious,0,3.38414,17.42,P05107_L149P,L,P,149,LP,L149P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.972,-3.96,2.988,0.591,.,b,1.07,0.49,,,,0.00026388,0,0.00899884,0.772514
5584,P05546,P,L,462,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.12,,,,,,,,,6424,282,ENSG00000099937,ENST00000406799,CCDS13783.1,SERPIND1,0.93,probably_damaging,0.961,tolerated,0.38,4.20362,21.8,P05546_P462L,P,L,462,PL,P462L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.906,-3.439,2.533,0.015,E,B,1.07,-0.75,,,,0.00645574,0,0.220154,0.530162
5600,P35240,L,P,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,67906,12011,ENSG00000186575,ENST00000361676,CCDS13863.1,NF2,0.58,probably_damaging,0.991,deleterious,0,4.67752,25.8,P35240_L318P,L,P,318,LP,L318P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00143999,0,0.0491066,0.905673
5605,P13866,D,G,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.15,,,,,,,,,332,69666,ENSG00000100170,ENST00000266088,CCDS13902.1,SLC5A1,0.04,probably_damaging,0.923,deleterious,0,2.7791,15.25,P13866_D28G,D,G,28,DG,D28G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.139,-2.869,1.73,,,,,,,,,0.00125879,0.00314465,0.0429274,0.820775
5619,P35579,S,L,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,16162,22,ENSG00000100345,ENST00000456729,,MYH9,0.93,probably_damaging,0.999,deleterious,0,5.13466,32,P35579_S96L,S,L,96,SL,S96L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.032,-3.233,2.201,0.032,H,A,0.82,0.22,,,,7.85e-05,0,0.00267782,0.652003
5623,Q8IU80,D,N,512,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,0,0,0,0.001,,,,0.001,30101,8114,ENSG00000187045,ENST00000406725,,TMPRSS6,0.64,probably_damaging,0.999,deleterious,0,3.59888,18.32,Q8IU80_D512N,D,N,512,DN,D512N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
5626,Q8IU80,Y,X,384,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.04,,,,,,,,,487,399,ENSG00000187045,ENST00000406725,,TMPRSS6,0.48,,,,,2.12424,13.06,Q8IU80_Y384X,Y,X,384,YX,Y384X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
5671,P00387,V,M,83,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,0,0,0,0.001,0.002,,,,2450,143,ENSG00000100243,ENST00000407623,CCDS14040.1,CYB5R3,0.3,possibly_damaging,0.858,tolerated,0.1,3.24404,16.88,P00387_V83M,V,M,83,VM,V83M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00450255,0,0.153546,0.966533
5707,P19971,R,T,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,2362,164,ENSG00000025708,ENST00000252029,CCDS14096.1,TYMP,0.42,probably_damaging,1,deleterious,0,5.08647,31,P19971_R202T,R,T,202,RT,R202T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,-1.101,-3.277,2.176,0.026,H,A,0.98,-0.64,,,,0.000198588,0,0.00677225,0.623479
5708,P19971,G,S,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,1420,779,ENSG00000025708,ENST00000252029,CCDS14096.1,TYMP,0.32,probably_damaging,1,deleterious,0,4.82658,27.4,P19971_G153S,G,S,153,GS,G153S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.883,-2.2,1.317,0.069,.,B,0.02,-0.8,2.509,2.509,11.41,0.000298356,0,0.0101745,0.751598
5771,P56539,S,R,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,554,1163,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.4,probably_damaging,0.998,deleterious,0,3.65713,18.59,P56539_S61R,S,R,61,SR,S61R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.079,-3.987,2.908,,,,,,1.298,,26.49,0.00924017,0,0.315109,0.749003
5774,P56539,T,S,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,562,1155,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.42,probably_damaging,0.944,tolerated,0.06,4.03692,20.7,P56539_T64S,T,S,64,TS,T64S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,-1.954,-3.078,1.124,,,,,,15.584,15.584,69.54,0.0114716,0,0.391206,0.923872
5780,P56539,L,P,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,0,0,0,,,,,,631,1086,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.58,probably_damaging,0.949,deleterious,0,3.00531,16.02,P56539_L87P,L,P,87,LP,L87P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.983,-4.432,2.449,,,,,,1.38,,52.98,0.0125837,0,0.429129,0.760776
5804,Q9UBU3,R,Q,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,0.005,0.002,0.006,0.003,0.002,,,0.01,28,246,ENSG00000157017,ENST00000422159,,GHRL,0.56,possibly_damaging,0.589,deleterious,0,4.738,26.4,Q9UBU3_R51Q,R,Q,51,RQ,R51Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.101,-3.305,2.204,,,,,,,,,0.00556913,0,0.189919,0.782889
5906,Q13705,V,I,494,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,9827,101,ENSG00000114739,ENST00000352511,CCDS2679.1,ACVR2B,0.96,benign,0.011,tolerated,0.09,2.42894,14.08,Q13705_V494I,V,I,494,VI,V494I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.625,-1.941,0.316,,,,,,21.001,21.001,77.34,0.014827,0,0.50563,0.99722
5914,Q14524,R,Q,1569,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.13,,,,,,,,,81813,1183,ENSG00000183873,ENST00000449557,,SCN5A,0.8,benign,0.339,deleterious,0.03,3.99665,20.5,Q14524_R1569Q,R,Q,1569,RQ,R1569Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
5916,Q14524,T,M,1566,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.12,,,,,,,,,81804,1192,ENSG00000183873,ENST00000449557,,SCN5A,0.8,possibly_damaging,0.44,deleterious,0,3.45898,17.72,Q14524_T1566M,T,M,1566,TM,T1566M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,,,,0.953797
5931,Q14524,G,S,298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.12,,,,,,,,,23541,59455,ENSG00000183873,ENST00000449557,,SCN5A,0.15,probably_damaging,0.998,tolerated,0.45,2.63345,14.77,Q14524_G298S,G,S,298,GS,G298S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.771,-3.044,1.273,,,,,,4.645,,79.46,,,,0.921183
5944,Q8NEW7,R,C,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,7822,1732,ENSG00000181585,ENST00000326431,CCDS43081.1,TMIE,0.52,probably_damaging,0.997,deleterious,0,5.12674,32,Q8NEW7_R81C,R,C,81,RC,R81C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.00193271,0,0.0659095,0.755036
5951,Q03431,P,L,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,5215,799,ENSG00000160801,ENST00000430002,CCDS2747.1,PTH1R,0.22,probably_damaging,1,deleterious,0,4.94787,28.8,Q03431_P132L,P,L,132,PL,P132L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,0.00072227,0,0.0246309,0.817672
6020,O75369,A,V,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.03,,,,,,,,,291,91998,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.08,probably_damaging,0.994,deleterious,0,5.54824,35,O75369_A201V,A,V,201,AV,A201V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.088,-2.856,1.768,,H,A,0.44,-0.61,,,,2.62e-05,0,0.000893691,0.75638
6022,O75369,G,V,210,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.03,,,,,,,,,318,91971,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.08,probably_damaging,1,deleterious,0,4.41532,23.4,O75369_G210V,G,V,210,GV,G210V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,0.678,.,l,0.73,-0.02,,,,2.61e-05,0,0.000891468,0.791843
6206,P02787,G,D,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,10576,46,ENSG00000091513,ENST00000402696,CCDS3080.1,TF,0.4,probably_damaging,0.987,tolerated,0.22,3.04353,16.16,P02787_G277D,G,D,277,GD,G277D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.161,-2.337,1.176,0.011,T,l,0.46,-0.85,14.834,14.834,57.02,0.00135022,0,0.0460452,0.749029
6348,Q13144,Y,C,343,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,91,68,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.48,probably_damaging,0.999,deleterious,0,4.51737,24.3,Q13144_Y343C,Y,C,343,YC,Y343C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,,,,,,,,,0.000745327,0,0.0254172,0.778038
6467,O76024,K,T,634,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,6925,779,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.71,probably_damaging,0.999,tolerated,0.15,3.38221,17.41,O76024_K634T,K,T,634,KT,K634T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.083,-3.239,2.156,,,,,,,,,0.000863035,0,0.0294313,0.827753
6891,Q15582,P,T,501,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,0.001,0.004,,,,271,581,ENSG00000120708,ENST00000442011,CCDS47266.1,TGFBI,0.73,probably_damaging,0.999,deleterious,0.03,5.076,31,Q15582_P501T,P,T,501,PT,P501T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.035,-3.198,2.163,,,,,,,,,0.00166406,0,0.0567479,0.754442
6892,Q15582,L,R,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,296,606,ENSG00000120708,ENST00000442011,CCDS47266.1,TGFBI,0.75,probably_damaging,0.993,deleterious,0,4.89665,28.2,Q15582_L509R,L,R,509,LR,L509R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.117,-3.71,2.593,,H,A,1.75,0,,,,0.00183003,0,0.0624078,0.613031
6904,Q9UH77,W,X,388,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.11,,,,,,,,,38851,33,ENSG00000146021,ENST00000506491,,KLHL3,0.77,,,,,6.83746,38,Q9UH77_W388X,W,X,388,WX,W388X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00101719,0,0.0346883,0.889194
6909,Q9UH77,S,L,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,35542,92,ENSG00000146021,ENST00000506491,,KLHL3,0.65,probably_damaging,0.98,deleterious,0.04,5.516,35,Q9UH77_S328L,S,L,328,SL,S328L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00188084,0,0.0641405,0.957374
6910,Q9UH77,L,P,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,33916,1718,ENSG00000146021,ENST00000506491,,KLHL3,0.6,probably_damaging,1,deleterious,0,4.47612,23.9,Q9UH77_L305P,L,P,305,LP,L305P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00223702,0,0.0762869,0.964854
7018,Q9UBV7,R,C,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,1629,714,ENSG00000027847,ENST00000029410,CCDS4429.1,B4GALT7,0.83,probably_damaging,0.942,deleterious,0,3.50245,17.9,Q9UBV7_R270C,R,C,270,RC,R270C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.00707835,0,0.241386,0.71065
7029,Q9NX24,V,M,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,3781,193,ENSG00000145912,ENST00000274606,CCDS4432.1,NHP2,0.82,probably_damaging,0.971,tolerated,0.2,4.50624,24.2,Q9NX24_V126M,V,M,126,VM,V126M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.449,-3.97,2.521,0.075,E,B,0.11,0.02,1.228,,67.97,0.0124887,0,0.425891,0.704428
7039,Q13501,P,L,392,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,0.001,0,0.002,0.005,,0.02,,0.01,1811,190,ENSG00000161011,ENST00000389805,CCDS34317.1,SQSTM1,0.89,possibly_damaging,0.532,tolerated,0.33,3.46231,17.73,Q13501_P392L,P,L,392,PL,P392L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.906,-3.439,2.533,,,,,,,,,0.00388666,0,0.132543,0.783704
7056,Q9BVA1,S,P,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,2161,1292,ENSG00000137285,ENST00000259818,CCDS4485.1,TUBB2B,0.39,probably_damaging,1,,,2.79792,15.32,Q9BVA1_S172P,S,P,172,SP,S172P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.864,-3.258,1.394,,.,B,0.25,-0.77,,,,0.000520212,0,0.0177403,0.766223
7112,Q99519,E,X,377,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.04,,,,,,,,,2959,603,ENSG00000204386,ENST00000375631,CCDS4723.1,NEU1,0.91,,,,,5.73312,36,Q99519_E377X,E,X,377,EX,E377X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00919553,0.0263158,0.313586,0.914153
7140,Q9NZC2,W,X,78,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.07,,,,0.001,,,,0.001,1756,2912,ENSG00000095970,ENST00000373122,,TREM2,0.36,,,,,4.03025,20.7,Q9NZC2_W78X,W,X,78,WX,W78X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0064425,0,0.219702,0.885869
7144,P43080,Y,C,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,5083,32,ENSG00000048545,ENST00000541991,CCDS4864.1,GUCA1A,0.49,probably_damaging,0.999,deleterious,0,2.80931,15.36,P43080_Y99C,Y,C,99,YC,Y99C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.368,-4.633,3.265,,H,A,0.25,-0.79,0.853,,46.77,0.00298024,0,0.101632,0.565561
7208,P20849,R,X,295,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.08,,,,,,,,,556,1271,ENSG00000112280,ENST00000370496,,COL9A1,0.9,,,,,4.17504,21.6,P20849_R295X,R,X,295,RX,R295X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7261,P24043,R,X,1549,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.08,,,,,,,,,470088,163285,ENSG00000196569,ENST00000421865,CCDS5138.1,LAMA2,0.5,,,,,11.8015,45,P24043_R1549X,R,X,1549,RX,R1549X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7422,P35557,V,M,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,9513,4631,ENSG00000106633,ENST00000437084,,GCK,0.47,probably_damaging,0.999,deleterious,0,5.50115,35,P35557_V209M,V,M,209,VM,V209M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.000590275,0,0.0201296,1.00472
7666,P20839,D,N,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,2129,67,ENSG00000106348,ENST00000419067,CCDS47699.1,IMPDH1,0.49,possibly_damaging,0.675,deleterious,0.03,5.38578,34,P20839_D278N,D,N,278,DN,D278N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
7749,Q15465,W,G,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,862,74,ENSG00000164690,ENST00000430104,,SHH,0.18,possibly_damaging,0.892,deleterious,0,3.98486,20.4,Q15465_W30G,W,G,30,WG,W30G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,,,,,,,,,,,,0.00168368,0,0.057417,0.871218
7750,Q15465,W,R,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,862,74,ENSG00000164690,ENST00000430104,,SHH,0.18,probably_damaging,0.969,deleterious,0,3.84324,19.52,Q15465_W30R,W,R,30,WR,W30R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00168368,0,0.057417,0.902301
7836,P49675,Q,X,220,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.03,,,,,,,,,4396,134,ENSG00000147465,ENST00000522753,,STAR,0.89,,,,,6.23367,37,P49675_Q220X,Q,X,220,QX,Q220X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00648905,0,0.22129,0.922505
7995,P01266,R,X,1530,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.07,0,0,0,,,,,,3957,211430,ENSG00000042832,ENST00000220616,CCDS34944.1,TG,0.55,,,,,8.97769,41,P01266_R1530X,R,X,1530,RX,R1530X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00015332,0,0.00522854,0.978539
8053,P07902,R,W,224,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,0,0,0,,,,,,580,372,ENSG00000213930,ENST00000450095,,GALT,0.83,probably_damaging,0.999,deleterious,0,4.17068,21.6,P07902_R224W,R,W,224,RW,R224W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00320846,0,0.109415,0.960989
8070,P20594,D,E,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,527,16797,ENSG00000159899,ENST00000342694,CCDS6590.1,NPR2,0.17,possibly_damaging,0.829,tolerated,0.06,3.79583,19.27,P20594_D176E,D,E,176,DE,D176E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.139,-2.5,1.361,,,,,,,,,0.00102204,0,0.0348536,0.859255
8092,Q9UBQ7,D,G,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.09,,,,,,,,,75,2,ENSG00000137106,ENST00000318158,CCDS6609.1,GRHPR,0.75,benign,0,tolerated,1,-1.61311,0.013,Q9UBQ7_D247G,D,G,247,DG,D247G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-2.154,-2.046,-0.108,0.439,G,A,0.46,0.24,33.265,33.265,93.9,0.00638465,0,0.21773,0.962832
8158,Q00597,L,R,496,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.03,,,,,,,,,19807,11,ENSG00000158169,ENST00000375305,CCDS35071.1,FANCC,0.89,probably_damaging,0.976,deleterious,0,2.84755,15.48,Q00597_L496R,L,R,496,LR,L496R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.097,-3.877,2.78,,,,,,1.31,,66.67,0.00249098,0,0.0849475,0.841656
8227,P13716,R,W,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.07,,,,,,,,,11600,271,ENSG00000148218,ENST00000277315,,ALAD,0.71,probably_damaging,1,deleterious,0.01,4.46711,23.9,P13716_R223W,R,W,223,RW,R223W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00492401,0,0.167919,0.948907
8258,P61764,M,R,443,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,6769,15995,ENSG00000136854,ENST00000373302,CCDS6874.1,STXBP1,0.73,possibly_damaging,0.863,tolerated,0.08,4.44152,23.6,P61764_M443R,M,R,443,MR,M443R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.998,-3.39,1.392,,,,,,,,,0.00272856,0,0.0930496,0.898582
8265,P00568,R,X,107,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.07,,,,,,,,,886,885,ENSG00000106992,ENST00000373156,CCDS6881.1,AK1,0.55,,,,,6.05833,37,P00568_R107X,R,X,107,RX,R107X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0086001,0,0.293281,0.910588
8279,P00966,G,S,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,45,19246,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.03,possibly_damaging,0.543,deleterious,0.02,5.17501,32,P00966_G14S,G,S,14,GS,G14S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,0.402,S,B,0.02,0.64,,,,0.00077197,0,0.0263258,0.827522
8331,Q9NRR6,R,H,563,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,9432,1772,ENSG00000148384,ENST00000371712,CCDS7000.1,INPP5E,0.87,probably_damaging,0.995,deleterious,0.01,5.29793,34,Q9NRR6_R563H,R,H,563,RH,R563H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,0.073,S,A,1.03,-0.23,,,,0.00423954,0,0.144577,0.588191
8336,O15120,K,X,215,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.08,,,,,,,,,2628,1044,ENSG00000169692,ENST00000371696,CCDS7003.1,AGPAT2,0.77,,,,,2.87264,15.57,O15120_K215X,K,X,215,KX,K215X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00717177,0,0.244572,0.919896
8464,P51843,W,X,369,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.09,,,,,,,,,232,2436,ENSG00000169297,ENST00000453287,,NR0B1,0.92,,,,,6.06167,37,P51843_W369X,W,X,369,WX,W369X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00604853,0,0.206267,0.900955
8535,Q92834,E,X,884,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0,,,,,,,,,5117,1940,ENSG00000156313,ENST00000378505,CCDS35229.1,RPGR,0.77,,,,,6.06938,37,Q92834_E884X,E,X,884,EX,E884X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.0014585,0,0.0497377,0.902682
8839,Q00604,L,F,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.08,,,,,,,,,99,149,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.93,probably_damaging,0.949,deleterious,0.02,4.70674,26.1,Q00604_L124F,L,F,124,LF,L124F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.208,-3.353,2.145,,,,,,,,,0.0166676,0,0.568399,0.83028
8900,O60840,R,X,830,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.59,0.04,,,,,,,,,13969,14280,ENSG00000102001,ENST00000376251,,CACNA1F,0.43,,,,,5.48135,35,O60840_R830X,R,X,830,RX,R830X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00013236,0,0.00451376,0.978539
8947,P98174,R,L,443,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.04,,,,,,,,,28371,22342,ENSG00000102302,ENST00000375135,CCDS14359.1,FGD1,0.46,probably_damaging,0.965,deleterious,0,4.99993,29.4,P98174_R443L,R,L,443,RL,R443L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.281,-3.135,1.854,,,,,,,,,,,,0.839207
9019,P98172,M,I,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,10734,2417,ENSG00000090776,ENST00000204961,CCDS14391.1,EFNB1,0.46,possibly_damaging,0.894,deleterious,0,5.24466,33,P98172_M158I,M,I,158,MI,M158I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.541,-2.887,1.346,,,,,,,,,,,,0.874839
9029,Q92838,G,A,224,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0,,,,,,,,,407597,5410,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.58,,,deleterious,0,3.65554,18.58,Q92838_G224A,G,A,224,GA,G224A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.921,-2.588,1.667,,,,,,,,,0.000445917,0,0.0152067,0.910561
9058,P08034,C,Y,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.11,,,,,,,,,1037,283,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.63,probably_damaging,1,deleterious,0,3.69866,18.79,P08034_C179Y,C,Y,179,CY,C179Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,,E,B,0.25,-0.94,,,,0.00114191,0,0.0389415,0.533307
9332,P29400,G,D,624,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.01,0,0,0,,,,,,16301,28477,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.37,,,deleterious,0,3.52625,18,P29400_G624D,G,D,624,GD,G624D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.15,-3.199,2.049,,,,,,0.561,,11.45,9.28e-05,0,0.00316431,0.819816
9724,P51608,P,L,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.59,0.05,,,,,,,,,26617,116,ENSG00000169057,ENST00000303391,CCDS14741.1,MECP2,0.46,probably_damaging,0.997,deleterious,0,3.97709,20.4,P51608_P225L,P,L,225,PL,P225L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,0.000788497,0,0.0268894,0.817672
35,Q9HC10,P,L,21,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.04,0.411,0.44,0.394,0.62,0.98,0.58,0.47,0.47,211,20628,ENSG00000115155,ENST00000402415,CCDS46241.1,OTOF,0.02,benign,0,tolerated,0.49,-0.215799,2.955,Q9HC10_P21L,P,L,21,PL,P21L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
48,Q9H251,R,C,3,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.03,0.123,0.326,0.024,0.11,0.01,0.05,0.4,0.03,42901,206924,ENSG00000107736,ENST00000398809,CCDS44429.1,CDH23,0.01,benign,0,tolerated,0.16,0.506418,6.746,Q9H251_R3C,R,C,3,RC,R3C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.995,-2.307,0.312,,,,,,45.39,45.39,93.92,,,,0.917664
51,Q9H251,R,Q,118,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.08,0.262,0.263,0.261,0.35,0.52,0.3,0.29,0.28,2273,16768,ENSG00000107736,ENST00000398788,CCDS53540.1,CDH23,0.11,benign,0.04,tolerated,0.22,2.47731,14.24,Q9H251_R118Q,R,Q,118,RQ,R118Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
122,Q8IWY9,R,C,891,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.03,0.27,0.428,0.188,0.21,0.06,0.14,0.45,0.2,1980,5223,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.73,possibly_damaging,0.488,deleterious,0,3.65045,18.56,Q8IWY9_R891C,R,C,891,RC,R891C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.341,-3.669,1.328,,,,,,41.831,41.831,74.25,0.000631585,0,0.0249778,0.932308
159,Q06710,F,L,329,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.11,0.019,0.004,0.026,0.01,,0.01,,0.02,32,151,ENSG00000125618,ENST00000429538,CCDS46398.1,PAX8,0.73,possibly_damaging,0.896,tolerated,1,3.10094,16.36,Q06710_F329L,F,L,329,FL,F329L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-2.119,-2.133,0.014,,,,,,22.781,22.781,65.11,0.00296523,0,0.117268,1.00301
166,P57727,I,V,253,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.03,0.16,0.271,0.103,0.23,0.35,0.15,0.31,0.11,305,1180,ENSG00000160183,ENST00000433957,,TMPRSS3,0.56,benign,0.001,tolerated,1,-0.792701,0.696,P57727_I253V,I,V,253,IV,I253V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.977,-1.366,-0.611,,,,,,25.322,25.322,94.05,0.00387246,0,0.153148,1.02946
169,P56539,R,H,126,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.08,,,,,,,,,748,969,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.83,benign,0.014,tolerated,1,0.564344,7.05,P56539_R126H,R,H,126,RH,R126H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.198,-2.281,0.083,,,,,,30.245,30.245,85.43,0.0175142,0,0.69265,1.00872
173,P54098,E,K,662,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.07,0.001,0,0.001,0.01,,0.04,,,99,673,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.53,benign,0.002,tolerated,0.13,2.27771,13.57,P54098_E662K,E,K,662,EK,E662K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.916,-2.53,0.614,,,,,,23.302,23.302,85.39,0.00076499,0,0.0302537,1.01317
178,P54098,R,W,1142,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.11,,,,,,,,,771,670,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.92,possibly_damaging,0.791,deleterious,0.01,4.18668,21.7,P54098_R1142W,R,W,1142,RW,R1142W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.308,-5.685,3.377,,,,,,0.618,,83.54,0.00121872,0,0.0481979,0.857782
205,P35499,S,T,906,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.08,0.012,0.003,0.016,0.01,,0.01,,0.02,21359,13006,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.49,benign,0.004,tolerated,0.36,0.125182,4.673,P35499_S906T,S,T,906,ST,S906T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-2.205,-3.013,0.808,,,,,,22.917,22.917,93.19,0.000426432,0,0.0168645,0.979977
236,P21817,E,K,4629,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.05,,,,,,,,,138472,15393,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.92,,,,,3.22987,16.82,P21817_E4629K,E,K,4629,EK,E4629K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
237,P21817,F,S,4916,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.15,,,,,,,,,151358,2507,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.98,,,,,3.05641,16.2,P21817_F4916S,F,S,4916,FS,F4916S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,,,,0.899145
263,P21817,R,T,4909,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.16,,,,,,,,,151337,2528,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.98,,,,,3.22656,16.81,P21817_R4909T,R,T,4909,RT,R4909T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,,,,,,,,,,,,,,,0.936879
298,P10071,S,C,1532,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.09,,,,,,,,,187977,396,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.97,probably_damaging,0.989,deleterious,0,4.64888,25.5,P10071_S1532C,S,C,1532,SC,S1532C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.344,-4.726,3.382,,,,,,0.818,,87.34,0.00616445,0,0.243791,0.811619
345,P01024,P,L,314,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.6,0.08,0.149,0.04,0.205,0.09,0.004,0.09,0.01,0.19,538,4,ENSG00000125730,ENST00000245907,CCDS32883.1,C3,0.19,benign,0.047,tolerated,0.11,2.06382,12.86,P01024_P314L,P,L,314,PL,P314L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.861,-2.69,0.829,,,,,,21.677,21.677,87.67,0.000741303,0,0.0293169,0.973444
52,Q9Y5Z9,D,E,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,11888,2613,ENSG00000120942,ENST00000376810,CCDS129.1,UBIAD1,0.7,probably_damaging,0.998,deleterious,0,4.50018,24.2,Q9Y5Z9_D236E,D,E,236,DE,D236E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.057,-2.542,1.485,,,,,,,,,0.000731711,0,0.0249528,0.924557
53,P42898,M,I,622,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,0,0,0,,,,,,12030,2922,ENSG00000177000,ENST00000376585,,MTHFR,0.89,benign,0.009,tolerated,0.12,3.10767,16.38,P42898_M622I,M,I,622,MI,M622I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,,,,,,,,,,,,0.00474742,0,0.161897,0.966276
95,Q9BXM7,L,P,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,132,2983,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.6,probably_damaging,1,deleterious,0,2.91504,15.71,Q9BXM7_L347P,L,P,347,LP,L347P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.196,-4.025,2.829,,,,,,0.574,,52.84,0.00213245,0,0.072721,0.827325
97,Q9BXM7,W,X,437,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,3140,2263,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.75,,,,,7.28804,39,Q9BXM7_W437X,W,X,437,WX,W437X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00200174,0,0.0682635,0.940107
98,Q9BXM7,Q,X,456,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,0,0,0,0.001,,,,0.001,3085,2208,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.78,,,,,6.35982,37,Q9BXM7_Q456X,Q,X,456,QX,Q456X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00301773,0,0.102911,0.955443
99,P42892,R,C,751,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,0,0,0,,,,,,2074,71,ENSG00000117298,ENST00000264205,CCDS44082.1,ECE1,0.98,possibly_damaging,0.685,deleterious,0.03,2.5956,14.64,P42892_R751C,R,C,751,RC,R751C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00847049,0,0.288861,0.877198
109,P05186,E,K,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,785,4038,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.49,possibly_damaging,0.894,deleterious,0.03,4.8584,27.7,P05186_E221K,E,K,221,EK,E221K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.000717573,0,0.0244707,0.990526
120,P02745,Q,X,208,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.04,,,,,,,,,1711,41,ENSG00000173372,ENST00000402322,CCDS226.1,C1QA,0.85,,,,,0.947137,8.862,P02745_Q208X,Q,X,208,QX,Q208X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
159,O75712,G,R,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,2518,1569,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.04,probably_damaging,1,deleterious,0,3.09226,16.33,O75712_G12R,G,R,12,GR,G12R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.927,-3.651,2.724,,,,,,2.849,,39.26,,,,0.754365
160,O75712,G,D,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,2519,1568,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.04,probably_damaging,0.999,deleterious,0.01,3.19162,16.68,O75712_G12D,G,D,12,GD,G12D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.927,-3.318,2.391,,,,,,1.889,,39.26,,,,0.768631
161,O75712,L,P,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,,,,,,,,,2585,1502,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.13,probably_damaging,0.998,deleterious,0,2.74767,15.15,O75712_L34P,L,P,34,LP,L34P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.319,-3.88,2.561,,,,,,1.239,,62.59,,,,0.777834
167,O75712,E,K,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,0,0,0,0.002,,0.01,,0.001,2789,1056,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.68,probably_damaging,1,deleterious,0,3.96862,20.3,O75712_E183K,E,K,183,EK,E183K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.005,-2.863,1.858,,,,,,,,,,,,0.851697
205,P11166,G,S,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,372,435,ENSG00000117394,ENST00000439722,,SLC2A1,0.14,probably_damaging,1,deleterious,0,5.36891,34,P11166_G35S,G,S,35,GS,G35S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.000556895,0,0.0189913,0.993008
210,P11166,G,D,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,77,730,ENSG00000117394,ENST00000372500,,SLC2A1,0.39,probably_damaging,1,deleterious,0,4.99781,29.3,P11166_G91D,G,D,91,GD,G91D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,,,,,,,,0.000572446,0,0.0195216,0.810788
244,Q8WZA1,R,C,442,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,56,781,ENSG00000085998,ENST00000371992,,POMGNT1,0.59,probably_damaging,1,deleterious,0,4.38003,23.1,Q8WZA1_R442C,R,C,442,RC,R442C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.000524308,0,0.01788,0.776892
269,P07358,R,X,366,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.05,0.002,0,0.002,0.001,,,,0.004,25051,11612,ENSG00000021852,ENST00000535057,,C8B,0.69,,,,,8.98358,41,P07358_R366X,R,X,366,RX,R366X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
338,O95076,R,W,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,0.001,,,,0.001,6018,4601,ENSG00000156150,ENST00000369792,CCDS819.1,ALX3,0.57,probably_damaging,0.998,deleterious,0,3.20735,16.74,O95076_R196W,R,W,196,RW,R196W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.426,-5.162,3.736,,,,,,0.317,,65.01,,,,0.791072
339,O95076,R,W,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,5979,4640,ENSG00000156150,ENST00000369792,CCDS819.1,ALX3,0.53,probably_damaging,0.998,deleterious,0,3.1702,16.61,O95076_R183W,R,W,183,RW,R183W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.442,-5.093,3.651,,,,,,0.117,,21.28,,,,0.781657
350,Q8TAA9,V,I,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,12769,27684,ENSG00000173218,ENST00000355485,CCDS883.1,VANGL1,0.46,benign,0.031,tolerated,0.23,2.69456,14.97,Q8TAA9_V239I,V,I,239,VI,V239I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.376,-1.87,0.494,,,,,,21.919,21.919,80.73,0.00236537,0,0.0806639,1.01354
380,P48165,D,N,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,,,,,,,,,138,1164,ENSG00000121634,ENST00000240986,CCDS30834.1,GJA8,0.11,probably_damaging,0.999,deleterious,0,5.03863,29.8,P48165_D47N,D,N,47,DN,D47N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.985,-3.04,2.055,,,,,,,,,0.000266194,0,0.00907776,0.870761
389,Q16610,R,X,53,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.03,0,0,0,,,,,,394,457,ENSG00000143369,ENST00000369049,CCDS55632.1,ECM1,0.09,,,,,3.21905,16.78,Q16610_R53X,R,X,53,RX,R53X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
400,P20930,S,X,2554,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,17979,5050,ENSG00000143631,ENST00000368799,CCDS30860.1,FLG,0.63,,,,,11.2027,44,P20930_S2554X,S,X,2554,SX,S2554X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
420,P02545,S,F,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,3885,3759,ENSG00000160789,ENST00000392353,,LMNA,0.13,probably_damaging,0.984,deleterious,0.01,5.02718,29.7,P02545_S62F,S,F,62,SF,S62F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.00162,0,0.0552453,0.893975
435,P02545,R,W,401,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,479,284,ENSG00000160789,ENST00000392353,,LMNA,0.82,possibly_damaging,0.9,deleterious,0,4.41642,23.4,P02545_R401W,R,W,401,RW,R401W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.89,-4.133,2.243,,,,,,18.919,18.919,69.73,0.00270571,0,0.0922701,0.881727
441,P02545,K,N,461,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,209,195,ENSG00000160789,ENST00000392353,,LMNA,0.94,possibly_damaging,0.861,deleterious,0.05,3.51881,17.97,P02545_K461N,K,N,461,KN,K461N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,,,,,,,,,,,,0.00134482,0,0.0458611,0.906523
479,P50993,R,H,548,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,2611,6920,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.54,probably_damaging,1,deleterious,0,4.77306,26.8,P50993_R548H,R,H,548,RH,R548H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.582,-3.912,2.33,0.44,E,B,1.03,0.22,,,,0.000219811,0,0.00749601,0.806262
491,P50336,P,R,256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,0.007,0.001,0.01,0.004,,,,0.01,142,564,ENSG00000143224,ENST00000367999,CCDS1221.1,PPOX,0.54,benign,0.155,tolerated,0.37,2.10205,12.99,P50336_P256R,P,R,256,PR,P256R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.434,-3.67,2.236,0.451,.,B,0.68,-0.11,1.87,,59.12,0.00386059,0,0.131654,0.694596
523,P20963,Q,X,70,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.15,,,,,,,,,267,519,ENSG00000198821,ENST00000362089,CCDS1261.1,CD247,0.43,,,,,5.8481,36,P20963_Q70X,Q,X,70,QX,Q70X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00836026,0,0.285102,0.917787
565,Q99972,Q,H,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.01,,,,,,,,,204,17051,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.1,benign,0.005,deleterious,0.03,1.52956,11.07,Q99972_Q48H,Q,H,48,QH,Q48H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-1.655,-2.311,0.656,,,,,,18.193,18.193,66.07,0.00167951,0,0.0572747,1.01648
566,Q99972,R,X,46,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.01,,,,0.002,0.01,,,,196,17059,ENSG00000034971,ENST00000037502,CCDS1297.1,MYOC,0.09,,,,,5.28581,33,Q99972_R46X,R,X,46,RX,R46X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00157323,0,0.0536505,0.900587
601,P01008,R,C,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,130,2815,ENSG00000117601,ENST00000367698,CCDS1313.1,SERPINC1,0.12,probably_damaging,0.999,deleterious,0,4.7669,26.7,P01008_R56C,R,C,56,RC,R56C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.326,-4.828,3.502,0.291,.,b,1.66,2.39,1.348,,73.92,0.000808802,0,0.0275818,0.76461
611,Q969G2,L,R,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,3185,398,ENSG00000121454,ENST00000263726,CCDS1338.1,LHX4,0.49,probably_damaging,0.991,deleterious,0,4.7618,26.7,Q969G2_L190R,L,R,190,LR,L190R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.347,-3.615,2.268,,,,,,,,,0.000972729,0,0.0331721,0.73907
750,P68133,L,P,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,1372,1473,ENSG00000143632,ENST00000366683,,ACTA1,0.33,probably_damaging,0.988,,,2.13529,13.1,P68133_L96P,L,P,96,LP,L96P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.611,-3.708,2.097,0.066,I,A,1.07,0,,,,0.000150689,0,0.0051388,0.677822
816,O14832,G,S,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,11122,16,ENSG00000107537,ENST00000396913,CCDS41489.1,PHYH,0.44,probably_damaging,0.999,deleterious,0,4.53682,24.5,O14832_G104S,G,S,104,GS,G104S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00471861,0,0.160914,0.953787
861,P28329,E,K,323,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,34112,16559,ENSG00000070748,ENST00000351556,CCDS7233.1,CHAT,0.51,probably_damaging,0.997,deleterious,0,4.9008,28.2,P28329_E323K,E,K,323,EK,E323K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00174877,0,0.0596367,0.950768
865,P28329,R,H,442,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,0,0,0,,,,,,40705,9966,ENSG00000070748,ENST00000351556,CCDS7233.1,CHAT,0.7,probably_damaging,1,deleterious,0,5.30164,34,P28329_R442H,R,H,442,RH,R442H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000710985,0,0.0242461,1.00233
913,Q9H251,D,N,2048,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,394278,24682,ENSG00000107736,ENST00000224721,,CDH23,0.61,probably_damaging,1,tolerated,0.08,5.35426,34,Q9H251_D2048N,D,N,2048,DN,D2048N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
914,Q9H251,D,N,2151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,0,0,0,,,,,,396433,22527,ENSG00000107736,ENST00000224721,,CDH23,0.64,probably_damaging,0.999,deleterious,0,5.4106,34,Q9H251_D2151N,D,N,2151,DN,D2151N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
948,O75112,A,T,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,18471,12879,ENSG00000122367,ENST00000372056,CCDS53549.1,LDB3,0.66,probably_damaging,0.926,tolerated,0.27,4.47925,24,O75112_A262T,A,T,262,AT,A262T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000776281,0,0.0264728,0.995499
1033,Q96RR1,R,P,354,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,1245,614,ENSG00000107815,ENST00000311916,CCDS7506.1,C10orf2,0.52,benign,0.004,tolerated,0.31,1.07798,9.401,Q96RR1_R354P,R,P,354,RP,R354P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.722,-3.749,2.027,,,,,,1.991,,73.39,0.00181947,0,0.0620476,0.869605
1046,P05093,R,H,416,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,722,34,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.82,probably_damaging,0.993,deleterious,0,3.72489,18.92,P05093_R416H,R,H,416,RH,R416H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.192,-4.186,2.994,,,,,,0.599,,35.04,0.00136809,0,0.0466547,0.816252
1065,Q9UMD9,Q,X,1023,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.05,,,,,,,,,47594,7123,ENSG00000065618,ENST00000353479,CCDS7554.1,COL17A1,0.68,,,,,10.0626,43,Q9UMD9_Q1023X,Q,X,1023,QX,Q1023X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1067,Q9UMD9,G,D,633,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,32931,21786,ENSG00000065618,ENST00000353479,CCDS7554.1,COL17A1,0.42,,,deleterious,0,4.10829,21.2,Q9UMD9_G633D,G,D,633,GD,G633D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,,,,0.768623
1155,P48788,R,X,156,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.09,,,,,,,,,1250,211,ENSG00000130598,ENST00000252898,CCDS31333.1,TNNI2,0.86,,,,,3.9689,20.3,P48788_R156X,R,X,156,RX,R156X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0174036,0.0384615,0.593497,0.933515
1157,P45378,R,H,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,137,919,ENSG00000130595,ENST00000381548,,TNNT3,0.25,probably_damaging,0.999,deleterious,0,3.89655,19.81,P45378_R65H,R,H,65,RH,R65H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
1158,P01308,Y,C,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,1110,10,ENSG00000254647,ENST00000381330,CCDS7729.1,INS,0.98,probably_damaging,1,deleterious,0,3.78738,19.23,P01308_Y108C,Y,C,108,YC,Y108C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.023,-4.718,3.695,,,,,,,,,0.0130114,0,0.443714,0.709686
1183,P51787,S,G,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,66072,15,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.21,probably_damaging,0.981,deleterious,0,4.12411,21.3,P51787_S140G,S,G,140,SG,S140G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-1.514,-2.94,1.426,,,,,,0.381,,18.05,0.000693472,0,0.0236488,0.927736
1184,P51787,G,S,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,111434,37,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.4,probably_damaging,0.982,deleterious,0.02,4.53827,24.5,P51787_G269S,G,S,269,GS,G269S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,0.000309938,0,0.0105695,0.859138
1221,#N/A,,,,Intergenic,UPSTREAM,1,upstream,pathogenic,0.6,0.01,,,,,,,,,41,537,ENSG00000221031,ENST00000408104,,CoTC_ribozyme,,,,,,0.377346,6.049,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1240,P17405,Q,K,293,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,68,98,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.47,probably_damaging,0.99,deleterious,0.03,3.01128,16.04,P17405_Q293K,Q,K,293,QK,Q293K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,,,,,,,,,,,,0.00334313,0,0.114008,0.964871
1269,Q14654,H,R,172,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,566,55,ENSG00000187486,ENST00000528731,CCDS53606.1,KCNJ11,0.57,probably_damaging,1,deleterious,0,3.91106,19.89,Q14654_H172R,H,R,172,HR,H172R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00210053,0,0.0716325,0.986365
1273,Q14654,I,V,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,798,96,ENSG00000187486,ENST00000526912,,KCNJ11,0.62,probably_damaging,0.995,tolerated,0.78,1.71113,11.68,Q14654_I95V,I,V,95,IV,I95V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.00212216,0,0.07237,0.986466
1284,Q09428,E,K,1506,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,1486,1254,ENSG00000006071,ENST00000389817,CCDS31437.1,ABCC8,0.95,probably_damaging,1,deleterious,0,5.25786,33,Q09428_E1506K,E,K,1506,EK,E1506K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,,,,0.856204
1387,Q96A29,T,R,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,6757,72,ENSG00000181830,ENST00000442528,CCDS44575.1,SLC35C1,0.84,probably_damaging,1,deleterious,0,3.71106,18.85,Q96A29_T295R,T,R,295,TR,T295R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.309,-3.478,2.169,,,,,,2.995,,67.58,0.00371974,0,0.126851,0.860441
1391,P00734,R,C,314,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,3383,64,ENSG00000180210,ENST00000530231,,F2,0.54,probably_damaging,0.999,deleterious,0,4.14642,21.4,P00734_R314C,R,C,314,RC,R314C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.219,-4.988,3.769,,,,,,0.45,,49.84,0.00155709,0,0.0530999,0.805021
1392,P00734,E,K,343,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,3554,108,ENSG00000180210,ENST00000530231,,F2,0.59,probably_damaging,0.94,deleterious,0,5.19994,33,P00734_E343K,E,K,343,EK,E343K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.005,-2.863,1.858,0.134,T,A,1.3,-0.62,,,,0.00151998,0,0.0518343,0.664563
1408,Q14896,R,Q,820,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,,,,,,,,,15169,1956,ENSG00000134571,ENST00000545968,CCDS53621.1,MYBPC3,0.64,probably_damaging,0.954,deleterious,0,5.72043,36,Q14896_R820Q,R,Q,820,RQ,R820Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000273135,0,0.00931448,0.993449
1418,Q13702,N,K,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,0.001,0,0.002,0.001,,0.003,,0.003,975,9595,ENSG00000165917,ENST00000352508,CCDS7937.1,RAPSN,0.25,probably_damaging,1,deleterious,0,4.71975,26.3,Q13702_N88K,N,K,88,NK,N88K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.26,-2.967,1.707,,,,,,,,,0.0019567,0,0.0667277,0.884243
1420,Q13702,L,P,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,130,10440,ENSG00000165917,ENST00000352508,CCDS7937.1,RAPSN,0.04,probably_damaging,1,deleterious,0,4.54801,24.6,Q13702_L14P,L,P,14,LP,L14P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00185206,0,0.0631589,0.785861
1446,Q96G97,A,P,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,337,3,ENSG00000168000,ENST00000421906,CCDS8031.1,BSCL2,0.53,probably_damaging,0.997,deleterious,0,4.68487,25.9,Q96G97_A212P,A,P,212,AP,A212P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.197,-3.547,2.35,,,,,,1.034,,35.5,0.00231669,0,0.079004,0.848111
1457,Q96S37,W,X,37,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.05,,,,0.002,0.01,,,,2484,7805,ENSG00000197891,ENST00000473690,CCDS8076.1,SLC22A12,0.11,,,,,8.42608,40,Q96S37_W37X,W,X,37,WX,W37X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00175735,0,0.0599294,0.919857
1478,O00255,E,K,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,2561,20,ENSG00000133895,ENST00000443283,CCDS8083.1,MEN1,0.42,probably_damaging,0.947,tolerated,0.07,5.25384,33,O00255_E260K,E,K,260,EK,E260K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.47,-2.706,1.236,,,,,,3.604,3.604,37.4,0.00128349,0,0.0437695,0.91281
1491,O95967,C,Y,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,21,77,ENSG00000172638,ENST00000307998,CCDS8116.1,EFEMP2,0.6,probably_damaging,0.992,deleterious,0,4.60108,25.1,O95967_C267Y,C,Y,267,CY,C267Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-0.868,-3.309,2.441,,,,,,17.984,17.984,56.66,0.000608141,0,0.0207389,0.835287
1501,P11498,A,V,847,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,57,457,ENSG00000173599,ENST00000393960,CCDS8152.1,PC,0.72,benign,0.172,deleterious,0.01,3.84683,19.54,P11498_A847V,A,V,847,AV,A847V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.573,-3.09,1.517,0.087,G,A,0.44,-1.06,2.855,,88.37,0.00105656,0,0.0360311,0.709329
1504,P11498,R,L,583,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,447,1662,ENSG00000173599,ENST00000393960,CCDS8152.1,PC,0.49,probably_damaging,1,deleterious,0,4.03994,20.7,P11498_R583L,R,L,583,RL,R583L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.398,-3.094,1.696,,.,B,1.75,-0.93,,,,7.12e-05,0,0.00242845,0.619947
1512,O00170,R,X,22,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.15,,,,,,,,,173,6457,ENSG00000110711,ENST00000529797,,AIP,0.1,,,,,4.30681,22.6,O00170_R22X,R,X,22,RX,R22X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00389826,0,0.132939,0.951177
1527,Q13488,C,X,248,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.09,,,,,,,,,259,66,ENSG00000110719,ENST00000532635,CCDS53670.1,TCIRG1,0.4,,,,,7.50996,39,Q13488_C248X,C,X,248,CX,C248X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00107765,0,0.0367502,0.910821
1538,O75197,E,X,485,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,77237,59352,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.3,,,,,7.40869,39,O75197_E485X,E,X,485,EX,E485X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000120807,0,0.00411977,0.98778
1542,O75197,G,R,550,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,432,3002,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.34,probably_damaging,0.99,deleterious,0,4.96881,29,O75197_G550R,G,R,550,GR,G550R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.000162587,0,0.00554457,0.790148
1544,O75197,R,Q,570,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,371,2941,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.35,possibly_damaging,0.873,deleterious,0,5.66564,36,O75197_R570Q,R,Q,570,RQ,R570Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,,,,,,,,,0.000197314,0,0.00672881,0.91142
1571,P50416,F,V,343,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,14318,794,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.44,probably_damaging,0.94,deleterious,0,4.90339,28.2,P50416_F343V,F,V,343,FV,F343V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.423,-3.169,1.746,,,,,,3.824,,79.69,0.00177111,0,0.0603985,0.950398
1601,Q9UBM7,H,L,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,972,33,ENSG00000172893,ENST00000526780,,DHCR7,0.72,probably_damaging,0.955,deleterious,0,3.30704,17.12,Q9UBM7_H119L,H,L,119,HL,H119L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.433,-3.319,1.886,,,,,,,,,0.00226617,0.00280899,0.0772812,0.876362
1615,Q8WZ04,E,K,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,385,199,ENSG00000184154,ENST00000435085,CCDS44668.1,LRTOMT,0.38,probably_damaging,0.994,deleterious,0.02,5.45776,35,Q8WZ04_E110K,E,K,110,EK,E110K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,0.00611935,0,0.208683,0.875334
1616,Q8WZ04,Y,X,111,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.04,,,,,,,,,390,194,ENSG00000184154,ENST00000435085,CCDS44668.1,LRTOMT,0.38,,,,,11.5646,45,Q8WZ04_Y111X,Y,X,111,YX,Y111X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00624339,0,0.212913,0.904133
1617,P15328,Q,X,118,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.04,,,,,,,,,3329,845,ENSG00000110195,ENST00000393679,CCDS8211.1,FOLR1,0.46,,,,,7.67848,39,P15328_Q118X,Q,X,118,QX,Q118X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00439713,0,0.149951,0.941271
1620,P55916,R,X,143,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.11,0.002,0.007,0,0.003,,,0.01,,1461,374,ENSG00000175564,ENST00000314032,CCDS8229.1,UCP3,0.46,,,,,8.55146,41,P55916_R143X,R,X,143,RX,R143X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00157799,0,0.0538126,0.900587
1630,Q13402,R,H,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,0.002,0,0.003,0.001,,,0.002,0.003,30030,26664,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.26,probably_damaging,0.96,deleterious,0,4.11454,21.2,Q13402_R302H,R,H,302,RH,R302H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.667,-4.85,3.183,,,,,,2.538,,93.77,,,,0.828496
1790,P02647,R,L,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,0,0,0,,,,,,487,1349,ENSG00000118137,ENST00000236850,CCDS8378.1,APOA1,0.13,benign,0.325,deleterious,0.01,3.11658,16.41,P02647_R34L,R,L,34,RL,R34L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.769,-3.401,1.632,0.192,.,l,1.75,0,7.4,,75.28,0.00551548,0,0.188089,0.832802
1792,P54710,G,R,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,2317,432,ENSG00000137731,ENST00000532119,CCDS8385.1,FXYD2,0.61,probably_damaging,0.999,deleterious,0,3.96607,20.3,P54710_G39R,G,R,39,GR,G39R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
1804,Q9Y296,,,,Intergenic,DOWNSTREAM,1,downstream,pathogenic,0.6,0.01,,,,,,,,,747,47,ENSG00000196655,ENST00000525079,,TRAPPC4,,,,,,4.73501,26.4,Q9Y296_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1831,P08397,H,N,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,94,18,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.69,benign,0.305,tolerated,0.14,3.3884,17.43,P08397_H239N,H,N,239,HN,H239N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,-1.606,-2.135,0.529,,,,,,22.021,22.021,69.53,0.00532443,0,0.181574,1.01413
1852,Q96MS0,E,K,297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,2182,10817,ENSG00000154134,ENST00000538940,,ROBO3,0.22,benign,0.269,tolerated,0.19,2.95168,15.84,Q96MS0_E297K,E,K,297,EK,E297K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.316,-2.139,0.823,,,,,,20.251,20.251,73.09,0.000469872,0,0.0160236,0.984299
1853,Q96MS0,G,E,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,2594,10405,ENSG00000154134,ENST00000538940,,ROBO3,0.25,probably_damaging,0.999,deleterious,0.01,4.29282,22.5,Q96MS0_G339E,G,E,339,GE,G339E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.145,-3.44,2.295,,,,,,1.792,,44.52,0.00051381,0,0.017522,0.842041
1856,Q96MS0,S,P,683,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.01,,,,,,,,,972,6317,ENSG00000154134,ENST00000538940,,ROBO3,0.5,possibly_damaging,0.672,tolerated,0.09,3.10744,16.38,Q96MS0_S683P,S,P,683,SP,S683P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.000430626,0,0.0146852,0.992219
1860,Q8IZU9,R,Q,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,0.001,0.003,0,0.001,,,0.004,,553645,15935,ENSG00000149571,ENST00000529097,,KIRREL3,0.44,probably_damaging,0.993,tolerated,0.15,4.56149,24.7,Q8IZU9_R336Q,R,Q,336,RQ,R336Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,,,,,,,,,0.00123406,0,0.0420839,0.839911
1872,Q9UKU7,H,Q,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,886,121,ENSG00000151498,ENST00000543332,,ACAD8,0.85,benign,0.015,tolerated,1,-0.331573,2.428,Q9UKU7_H191Q,H,Q,191,HQ,H191Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,,,,,,,,,,,,0.000617083,0,0.0210438,1.00528
1888,Q09470,V,F,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,,,,,,,,,1521,6350,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.35,probably_damaging,0.997,deleterious,0,4.17765,21.6,Q09470_V174F,V,F,174,VF,V174F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.304,-3.578,2.274,0.267,H,A,0.14,-0.06,,,,0.000387637,0,0.0132192,0.759866
1910,P04275,S,P,1613,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,3346,948,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.57,probably_damaging,0.957,deleterious,0,3.07177,16.26,P04275_S1613P,S,P,1613,SP,S1613P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.835,-2.861,1.026,0.472,S,A,0.25,-0.73,11.836,11.836,12.37,5.19e-05,0,0.00176937,0.852679
1940,P37088,W,R,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,0.017,0.005,0.024,0.01,,0.03,0.002,0.02,81,234,ENSG00000111319,ENST00000540037,,SCNN1A,0.52,probably_damaging,1,deleterious,0,3.93354,20.1,P37088_W193R,W,R,193,WR,W193R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00179739,0.00210084,0.0612945,0.950345
1947,P60174,I,V,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,193,30,ENSG00000111669,ENST00000396705,CCDS8566.1,TPI1,0.69,probably_damaging,0.945,deleterious,0,4.44743,23.7,P60174_I171V,I,V,171,IV,I171V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.00577106,0,0.196805,0.955717
2006,P11473,E,K,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.01,,,,,,,,,58630,1904,ENSG00000111424,ENST00000229022,CCDS8757.1,VDR,0.77,probably_damaging,0.998,deleterious,0,5.22443,33,P11473_E329K,E,K,329,EK,E329K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.305,-1.949,0.644,,,,,,12.329,12.329,44.5,0.00125802,0,0.0429012,0.968454
2008,P11473,H,Q,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,58560,1974,ENSG00000111424,ENST00000229022,CCDS8757.1,VDR,0.71,possibly_damaging,0.853,tolerated,0.14,3.34541,17.26,P11473_H305Q,H,Q,305,HQ,H305Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.311,-3.451,2.14,,,,,,,,,0.0033167,0,0.113106,0.843323
2016,P11473,G,D,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,3920,21355,ENSG00000111424,ENST00000550314,,VDR,0.31,probably_damaging,1,deleterious,0,4.8118,27.2,P11473_G33D,G,D,33,GD,G33D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.000877792,0,0.0299345,0.808386
2017,P11473,R,X,30,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,3910,21365,ENSG00000111424,ENST00000550314,,VDR,0.28,,,,,6.90644,38,P11473_R30X,R,X,30,RX,R30X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00232496,0.00251889,0.0792859,0.959768
2024,P02458,G,S,1074,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,73,2020,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.72,,,deleterious,0.01,4.69172,26,P02458_G1074S,G,S,1074,GS,G1074S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.893,-3.117,2.224,,,,,0,0.407,,9.41,0.000471981,0,0.0160955,0.710293
2033,P02458,G,S,774,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,1714,799,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.52,probably_damaging,0.994,deleterious,0.02,5.35054,34,P02458_G774S,G,S,774,GS,G774S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,0,,,,7.13e-05,0,0.00243011,0.72721
2036,P02458,R,X,653,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.03,,,,,,,,,135,2378,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.44,,,,,8.88808,41,P02458_R653X,R,X,653,RX,R653X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000179657,0,0.00612669,0.977351
2055,O43323,L,P,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.21,,,,,,,,,1000,1787,ENSG00000139549,ENST00000266991,CCDS8779.1,DHH,0.41,probably_damaging,1,deleterious,0,4.39441,23.3,O43323_L162P,L,P,162,LP,L162P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,,H,A,1.07,-0.57,,,,0.00126131,0,0.0430132,0.561441
2056,O43323,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.6,0.08,,,,,,,,,309,5090,ENSG00000139549,ENST00000266991,CCDS8779.1,DHH,0,,,deleterious,0,1.14179,9.652,O43323_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.103,-3.192,1.089,,,,,,2.446,,64.14,0.000555386,0,0.0189398,0.964881
2083,P37023,G,D,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,2074,117,ENSG00000139567,ENST00000550683,,ACVRL1,0.44,probably_damaging,0.989,deleterious,0,4.97787,29.1,P37023_G225D,G,D,225,GD,G225D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,,,,0.948182
2096,P78385,E,K,407,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,1,1635,ENSG00000170523,ENST00000293670,CCDS8823.1,KRT83,0.83,probably_damaging,0.993,deleterious,0.01,4.9922,29.3,P78385_E407K,E,K,407,EK,E407K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,0.000924737,0,0.0315354,0.909675
2106,P13647,L,P,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,492,3,ENSG00000186081,ENST00000548409,,KRT5,0.85,possibly_damaging,0.531,deleterious,0,4.66936,25.7,P13647_L171P,L,P,171,LP,L171P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00097301,0,0.0331816,0.913448
2122,P04264,Y,C,482,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,1213,582,ENSG00000167768,ENST00000252244,CCDS8836.1,KRT1,0.75,probably_damaging,1,deleterious,0,4.25734,22.2,P04264_Y482C,Y,C,482,YC,Y482C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-0.99,-4.737,3.747,,,,,,,,,,,,0.719914
2123,P04264,I,T,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,1204,591,ENSG00000167768,ENST00000252244,CCDS8836.1,KRT1,0.74,probably_damaging,1,deleterious,0,4.23193,22,P04264_I479T,I,T,479,IT,I479T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.087,-3.296,2.209,,,,,,,,,,,,0.782951
2124,P04264,I,F,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,1203,592,ENSG00000167768,ENST00000252244,CCDS8836.1,KRT1,0.74,probably_damaging,1,deleterious,0,4.66974,25.7,P04264_I479F,I,F,479,IF,I479F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.087,-3.492,2.405,,,,,,,,,,,,0.791228
2130,P12035,E,K,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,4893,1530,ENSG00000186442,ENST00000309505,,KRT3,0.81,probably_damaging,0.926,deleterious,0.02,5.08514,31,P12035_E509K,E,K,509,EK,E509K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.005,-2.863,1.858,,,,,,,,,0.000596337,0,0.0203363,0.90344
2131,P19013,E,K,415,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,6372,1087,ENSG00000170477,ENST00000458244,,KRT4,0.83,probably_damaging,1,deleterious,0,4.42296,23.5,P19013_E415K,E,K,415,EK,E415K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
2148,P30301,T,R,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,940,1064,ENSG00000135517,ENST00000257979,CCDS8919.1,MIP,0.52,probably_damaging,1,deleterious,0,4.34112,22.8,P30301_T138R,T,R,138,TR,T138R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.428,-3.519,2.091,,H,A,0.98,-0.78,2.725,,84.79,0.00140298,0,0.0478445,0.647185
2175,P23409,A,S,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,0.001,0,0.001,0.001,,0.003,,0.001,555,1422,ENSG00000111046,ENST00000228641,CCDS9019.1,MYF6,0.46,probably_damaging,0.991,deleterious,0,5.0002,29.4,P23409_A112S,A,S,112,AS,A112S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.088,-2.713,1.625,,,,,,,,,0.00189382,0,0.0645831,0.890383
2185,P42357,R,P,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,8776,79,ENSG00000084110,ENST00000541929,,HAL,0.25,probably_damaging,0.999,tolerated,0.07,5.0913,31,P42357_R114P,R,P,114,RP,R114P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00348097,0.00184162,0.118708,0.936486
2240,P00439,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.6,0.05,,,,,,,,,14,45,ENSG00000171759,ENST00000551337,,PAH,0.01,benign,0.026,deleterious,0,1.8673,12.2,P00439_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.998,-2.792,0.794,,,,,,,,,0.000758093,0,0.0258525,0.948846
2320,P32754,I,M,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,0.001,0,0.001,0.001,,0.01,,,18862,468,ENSG00000158104,ENST00000289004,CCDS9224.1,HPD,0.85,probably_damaging,0.974,deleterious,0,4.40706,23.4,P32754_I335M,I,M,335,IM,I335M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.313,-3.807,2.494,0.023,E,B,0.07,-0.78,,,,0.00308329,0,0.105146,0.677548
2339,P29033,R,W,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,422,1887,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.33,probably_damaging,1,deleterious,0,4.68837,25.9,P29033_R75W,R,W,75,RW,R75W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.992,-5.412,4.42,,H,A,1.67,-0.58,0.282,,50,0.001414,0,0.0482204,0.465929
2341,P29033,D,H,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,395,1914,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.29,probably_damaging,1,deleterious,0,4.60846,25.2,P29033_D66H,D,H,66,DH,D66H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-0.803,-4.465,3.662,,H,A,0.58,-0.92,1.559,,48.67,0.00141217,0,0.0481579,0.566045
2380,O15198,C,X,202,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,7108,27891,ENSG00000120693,ENST00000350148,CCDS9360.1,SMAD9,0.47,,,,,7.64368,39,O15198_C202X,C,X,202,CX,C202X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
2431,P35670,R,Q,539,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,126,2329,ENSG00000123191,ENST00000400370,,ATP7B,0.52,,,tolerated,0.26,2.63151,14.76,P35670_R539Q,R,Q,539,RQ,R539Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00070131,0,0.0239161,0.995654
2472,P02462,G,R,1580,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,151850,6329,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0.95,,,deleterious,0,4.09214,21.1,P02462_G1580R,G,R,1580,GR,G1580R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.752,-3.983,3.231,,E,b,0.91,-0.3,0.241,,6.89,0.00202157,0,0.0689396,0.50593
2476,P02462,G,R,805,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,128182,29997,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0.48,probably_damaging,1,deleterious,0,4.24972,22.1,P02462_G805R,G,R,805,GR,G805R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.502,-2.498,0.996,,,,,,4.308,4.308,20.25,0.00048721,0,0.0166149,0.918028
2519,P12883,D,G,778,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,10347,12634,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.4,probably_damaging,0.983,deleterious,0,4.26724,22.3,P12883_D778G,D,G,778,DG,D778G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.139,-2.869,1.73,0.122,H,A,0.46,0,,,,0.000127066,0,0.00433321,0.764929
2563,P22735,R,Q,323,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,0,0,0,,,,,,439,4266,ENSG00000092295,ENST00000206765,CCDS9622.1,TGM1,0.4,probably_damaging,0.962,deleterious,0,5.01404,29.5,P22735_R323Q,R,Q,323,RQ,R323Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.000279081,0,0.00951725,0.857272
2647,P11277,R,P,2064,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,523,367,ENSG00000070182,ENST00000389721,CCDS32100.1,SPTB,0.97,probably_damaging,1,deleterious,0,4.8643,27.8,P11277_R2064P,R,P,2064,RP,R2064P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.281,-3.657,2.376,0.598,H,A,0.68,-0.16,,,,0.000573025,0,0.0195413,0.753684
2662,Q96NR8,S,P,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,110,320,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.55,probably_damaging,1,deleterious,0,3.79433,19.26,Q96NR8_S175P,S,P,175,SP,S175P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.146,-3.472,2.326,,,,,,,,,0.00191494,0,0.0653035,0.804315
2713,P16473,C,S,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,0,0,0,,,,,,147,136,ENSG00000165409,ENST00000342443,CCDS32131.1,TSHR,0.16,probably_damaging,0.954,deleterious,0.01,4.23431,22,P16473_C41S,C,S,41,CS,C41S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.642,-2.429,0.787,,E,B,0.73,-0.33,10.075,10.075,44.9,0.00114003,0,0.0388775,0.73858
2777,Q04671,R,Q,419,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,0.056,0.012,0.078,0.03,0.002,0.04,,0.08,114141,34663,ENSG00000104044,ENST00000354638,CCDS10020.1,OCA2,0.5,probably_damaging,0.999,tolerated,0.07,4.20231,21.8,Q04671_R419Q,R,Q,419,RQ,R419Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.415,-2.18,0.765,,,,,,16.058,16.058,75.06,0.00188212,0,0.0641843,0.995893
2941,P34949,M,T,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,2178,6,ENSG00000178802,ENST00000352410,CCDS10272.1,MPI,0.33,possibly_damaging,0.85,deleterious,0,4.73866,26.4,P34949_M138T,M,T,138,MT,M138T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.612,-3.334,1.722,,,,,,3.509,,88.42,0.00307477,0,0.104856,0.965071
2983,P54098,R,W,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,4591,13937,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.18,probably_damaging,0.992,deleterious,0.01,3.96929,20.3,P54098_R227W,R,W,227,RW,R227W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.185,-2.12,-0.065,,,,,,8.897,8.897,83.29,0.000382308,0,0.0130375,1.01063
2996,P08069,R,X,89,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.15,,,,,,,,,100,183888,ENSG00000140443,ENST00000558762,,IGF1R,0.07,,,,,11.4163,45,P08069_R89X,R,X,89,RX,R89X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000251862,0,0.00858901,0.977351
3019,P55789,R,H,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,0,0,0,,,,,,863,122,ENSG00000127554,ENST00000248114,CCDS32368.1,GFER,0.95,probably_damaging,0.999,deleterious,0,5.31359,34,P55789_R194H,R,H,194,RH,R194H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.326,-4.151,2.825,0.457,I,A,1.03,-0.88,1.498,,77.56,0.0308437,0.0909091,1.05184,0.656026
3080,Q99732,V,M,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,6752,19,ENSG00000189067,ENST00000339430,CCDS32386.1,LITAF,0.89,possibly_damaging,0.757,deleterious,0,4.34001,22.8,Q99732_V144M,V,M,144,VM,V144M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.329,-2.41,1.081,,,,,,8.551,8.551,52.8,0.012267,0,0.418329,0.893088
3083,Q99732,T,N,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,2879,143,ENSG00000189067,ENST00000339430,CCDS32386.1,LITAF,0.71,possibly_damaging,0.87,deleterious,0,4.66936,25.7,Q99732_T115N,T,N,115,TN,T115N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,-1.415,-3.388,1.973,,,,,,1.419,,54.04,0.0122907,0,0.419139,0.809093
3130,O95255,Q,X,1237,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,63927,9375,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.82,,,,,8.777,41,O95255_Q1237X,Q,X,1237,QX,Q1237X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000572739,0,0.0195316,0.98231
3131,O95255,R,W,1235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,0.01,0.01,0.01,0.01,0.01,63921,9381,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.82,probably_damaging,1,deleterious,0,3.93835,20.1,O95255_R1235W,R,W,1235,RW,R1235W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.793,-5.496,4.703,,,,,,0.355,,53.43,0.000268428,0,0.00915393,0.813116
3142,O95255,Q,X,1143,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.11,,,,,,,,,60363,12939,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.76,,,,,8.77944,41,O95255_Q1143X,Q,X,1143,QX,Q1143X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000468845,0,0.0159886,0.98231
3143,O95255,A,T,1139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,60351,12951,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.76,probably_damaging,0.999,deleterious,0,5.26437,33,O95255_A1139T,A,T,1139,AT,A1139T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-0.817,-3.465,2.648,,,,,,2.033,,30.34,0.000180484,0,0.00615489,0.854208
3145,O95255,G,A,1133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,60334,12968,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.75,probably_damaging,0.999,deleterious,0,4.86287,27.8,O95255_G1133A,G,A,1133,GA,G1133A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.507,-3.003,2.496,,,,,,,,,0.000103387,0,0.0035257,0.828682
3146,O95255,G,C,1133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,60333,12969,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.75,probably_damaging,1,deleterious,0,4.84893,27.6,O95255_G1133C,G,C,1133,GC,G1133C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.507,-5.238,4.731,,,,,,,,,0.000103387,0,0.0035257,0.78324
3156,O95255,R,X,1030,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.08,,,,,,,,,57594,15708,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.69,,,,,8.51595,40,O95255_R1030X,R,X,1030,RX,R1030X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000919227,0,0.0313475,0.977351
3166,O95255,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.6,0.01,,,,,,,,,4239,201,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,,,,,,1.03988,9.247,O95255_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3186,O95255,G,R,755,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,0,0,0,,,,,,44485,28817,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.5,probably_damaging,0.989,deleterious,0,3.18308,16.65,O95255_G755R,G,R,755,GR,G755R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.712,-4.131,3.419,0.552,H,A,0.91,-0.51,3.56,,71.79,0.000248372,0,0.00847,0.789178
3187,O95255,M,K,751,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,44474,28828,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.5,possibly_damaging,0.719,deleterious,0,2.94318,15.81,O95255_M751K,M,K,751,MK,M751K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-2.524,-3.289,0.765,,,,,,10.582,10.582,83.77,0.000416614,0,0.0142074,0.995222
3210,O95255,R,Q,518,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,33189,8541,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.34,probably_damaging,1,deleterious,0,4.09645,21.1,O95255_R518Q,R,Q,518,RQ,R518Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.777,-3.671,2.894,,,,,,1.537,,44.84,6.94e-05,0,0.00236542,0.850175
3212,O95255,N,K,497,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,33127,8603,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.33,benign,0.301,deleterious,0,0.730876,7.884,O95255_N497K,N,K,497,NK,N497K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-2.32,-3.798,1.478,,,,,,4.493,,83.23,0.000252222,0,0.00860131,0.966733
3234,O95255,L,L,183,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.6,0.04,,,,,,,,,9060,12375,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.12,,,,,-0.444093,1.939,O95255_L183L,L,L,183,LL,L183L,Hydrophobic,Hydrophobic,9.71,9.71,0,131,131,0,166.7,166.7,0,0,,,,,,,,,,,,0.000428635,0,0.0146174,1.00404
3244,P51168,S,C,127,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,0.006,0.003,0.008,0.001,,0.003,,,49,4070,ENSG00000168447,ENST00000307331,,SCNN1B,0.19,probably_damaging,0.92,deleterious,0,4.05078,20.8,P51168_S127C,S,C,127,SC,S127C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.00182821,0,0.0623456,0.972041
3273,P04075,E,K,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,122,145,ENSG00000149925,ENST00000569545,CCDS10668.1,ALDOA,0.57,benign,0.185,deleterious,0.05,4.08937,21,P04075_E207K,E,K,207,EK,E207K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.404,-2.689,1.285,0.182,H,A,1.3,-0.61,,,,0.00181662,0,0.0619506,0.753812
3281,Q9H2F3,E,K,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,1396,92,ENSG00000099377,ENST00000353250,CCDS45466.1,HSD3B7,0.75,probably_damaging,1,deleterious,0,5.06088,31,Q9H2F3_E147K,E,K,147,EK,E147K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,0.00127755,0,0.0435672,0.829475
3323,P08253,E,K,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,3168,11060,ENSG00000087245,ENST00000543485,,MMP2,0.56,probably_damaging,1,deleterious,0,5.67635,36,P08253_E328K,E,K,328,EK,E328K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00135359,0,0.0461602,0.912331
3336,P55017,L,P,622,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,20096,28099,ENSG00000070915,ENST00000566786,CCDS45491.1,SLC12A3,0.6,benign,0.269,tolerated,0.27,2.32859,13.74,P55017_L622P,L,P,622,LP,L622P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.000704735,0,0.0240329,0.981753
3354,P04180,T,M,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,2738,54,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.78,probably_damaging,1,deleterious,0,4.14417,21.4,P04180_T345M,T,M,345,TM,T345M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-0.998,-4.336,3.338,,,,,,,,,0.00165251,0,0.056354,0.72679
3395,Q12946,Y,X,75,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.13,,,,,,,,,267,3677,ENSG00000103241,ENST00000262426,CCDS10957.2,FOXF1,0.2,,,,,6.20003,37,Q12946_Y75X,Y,X,75,YX,Y75X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
3398,Q99958,R,H,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,,,,,,,,,65,1237,ENSG00000176692,ENST00000320354,CCDS10958.1,FOXC2,0.24,probably_damaging,0.999,deleterious,0,4.86909,27.9,Q99958_R121H,R,H,121,RH,R121H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.000226551,0,0.00772584,0.825058
3415,P34059,A,T,291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.17,,,,,,,,,2610,490,ENSG00000141012,ENST00000268695,CCDS10970.1,GALNS,0.56,probably_damaging,0.977,tolerated,0.1,3.82201,19.41,P34059_A291T,A,T,291,AT,A291T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,,,,,,,,,0.0032186,0,0.109761,0.882052
3416,P34059,W,X,230,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.12,,,,,,,,,2056,39,ENSG00000141012,ENST00000268695,CCDS10970.1,GALNS,0.44,,,,,3.81621,19.38,P34059_W230X,W,X,230,WX,W230X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00337761,0,0.115183,0.931205
3421,P34059,R,G,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,110,1238,ENSG00000141012,ENST00000268695,CCDS10970.1,GALNS,0.18,probably_damaging,0.999,deleterious,0,3.71464,18.87,P34059_R94G,R,G,94,RG,R94G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.281,-3.135,1.854,,,,,,,,,0.000896121,0,0.0305596,0.866303
3458,Q8NET8,W,G,692,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,10402,4521,ENSG00000167723,ENST00000301365,,TRPV3,0.87,probably_damaging,0.999,deleterious,0,3.88401,19.74,Q8NET8_W692G,W,G,692,WG,W692G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.198,-3.135,1.937,,,,,,,,,0.00197193,0,0.0672469,0.825782
3474,Q04844,P,L,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.2,,,,,,,,,199,923,ENSG00000108556,ENST00000293780,CCDS11058.1,CHRNE,0.29,probably_damaging,1,deleterious,0,4.90664,28.3,Q04844_P141L,P,L,141,PL,P141L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,0.165,E,B,1.07,0,,,,0.000745554,0,0.0254249,0.680374
3476,Q04844,R,X,84,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.09,,,,,,,,,320,622,ENSG00000108556,ENST00000293780,CCDS11058.1,CHRNE,0.17,,,,,4.73627,26.4,Q04844_R84X,R,X,84,RX,R84X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00110847,0,0.0378012,0.908362
3507,P04637,K,I,292,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,158,210,ENSG00000141510,ENST00000420246,CCDS45606.1,TP53,0.86,possibly_damaging,0.668,deleterious,0,3.0543,16.19,P04637_K292I,K,I,292,KI,K292I,PositiveCharge,Hydrophobic,9.74,6.02,-3.72,146,131,-15,168.6,166.7,-1.9,102,-1.647,-4.122,2.475,0.878,.,l,2.82,0,3.626,,68.96,0.00355217,0,0.121136,0.749568
3523,P04637,A,P,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,81,30,ENSG00000141510,ENST00000508793,,TP53,0.83,probably_damaging,0.997,deleterious,0,4.71895,26.2,P04637_A138P,A,P,138,AP,A138P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-0.918,-3.808,2.89,0.476,T,l,0.52,0,1.376,,74.81,0.00105023,0,0.0358149,0.819721
3585,Q86SG6,H,Y,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,4045,3709,ENSG00000160602,ENST00000268766,CCDS32597.1,NEK8,0.61,probably_damaging,0.983,tolerated,0.53,3.85566,19.59,Q86SG6_H425Y,H,Y,425,HY,H425Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.433,-2.998,1.565,,,,,,,,,0.00103044,0,0.0351402,0.847922
3632,P13646,L,P,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,403,4205,ENSG00000171401,ENST00000246635,CCDS11396.1,KRT13,0.26,probably_damaging,0.999,deleterious,0,3.73504,18.97,P13646_L119P,L,P,119,LP,L119P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.325,-3.93,2.605,,,,,,0.94,,50.66,0.00068562,0,0.0233811,0.841059
3651,P02533,N,S,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,455,4188,ENSG00000186847,ENST00000167586,CCDS11400.1,KRT14,0.26,possibly_damaging,0.86,deleterious,0.01,4.83456,27.5,P02533_N123S,N,S,123,NS,N123S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-0.909,-2.284,1.375,,,,,,12.813,12.813,58.26,0.00097219,0,0.0331537,0.954731
3657,P08779,N,S,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,433,2543,ENSG00000186832,ENST00000301653,CCDS11401.1,KRT16,0.26,possibly_damaging,0.768,tolerated,0.09,3.43472,17.62,P08779_N123S,N,S,123,NS,N123S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.303,-1.987,0.684,,,,,,16.506,16.506,75.05,0.00173259,0,0.0590848,1.00524
3658,P08779,Q,P,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,430,2546,ENSG00000186832,ENST00000301653,CCDS11401.1,KRT16,0.26,probably_damaging,1,deleterious,0,4.30068,22.5,P08779_Q122P,Q,P,122,QP,Q122P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.119,-3.53,2.411,,,,,,,,,0.00131172,0,0.0447323,0.735361
3676,P54802,P,L,521,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,7635,879,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.7,probably_damaging,1,deleterious,0,4.19632,21.8,P54802_P521L,P,L,521,PL,P521L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.906,-3.439,2.533,,,,,,,,,0.0014774,0,0.0503823,0.729549
3682,P54802,R,H,674,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,8094,420,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.91,probably_damaging,1,deleterious,0,3.58993,18.28,P54802_R674H,R,H,674,RH,R674H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,,,,,,,,,0.0013919,0,0.0474666,0.73914
3699,P35575,G,V,270,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,10363,2209,ENSG00000131482,ENST00000253801,CCDS11446.1,G6PC,0.76,probably_damaging,0.999,deleterious,0,4.52127,24.3,P35575_G270V,G,V,270,GV,G270V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.809,-3.571,2.762,,,,,,,,,,,,0.758012
3709,Q9BUM1,L,P,185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,4598,1016,ENSG00000141349,ENST00000269097,CCDS11476.1,G6PC3,0.53,possibly_damaging,0.751,tolerated,0.08,3.45318,17.7,Q9BUM1_L185P,L,P,185,LP,L185P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.616,-4.044,2.428,,,,,,1.525,,89.31,0.00465353,0,0.158695,0.849488
3722,P02730,R,Q,646,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,0,0,0,,,,,,13526,6231,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.71,probably_damaging,1,deleterious,0,5.17148,32,P02730_R646Q,R,Q,646,RQ,R646Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.896,-2.876,1.98,,,,,,13.667,13.667,38.75,0.000545225,0,0.0185933,0.88251
3723,P02730,R,W,646,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,13525,6232,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.71,probably_damaging,1,deleterious,0,2.89062,15.63,P02730_R646W,R,W,646,RW,R646W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.896,-5.33,4.434,,,,,,1.005,,38.75,0.000545225,0,0.0185933,0.812078
3724,P02730,S,F,613,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,12883,6874,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.67,probably_damaging,0.992,deleterious,0,5.278,33,P02730_S613F,S,F,613,SF,S613F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.456,-4.306,2.85,,,,,,3.727,,91.99,0.00164917,0,0.0562401,0.845514
3725,P02730,R,P,602,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,12850,6907,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.66,probably_damaging,1,deleterious,0,4.60827,25.1,P02730_R602P,R,P,602,RP,R602P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-0.898,-4.04,3.142,,,,,,1.306,,91.99,0.000589935,0,0.020118,0.837101
3730,P02730,V,M,488,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,10611,321,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.54,probably_damaging,0.998,deleterious,0.01,3.42875,17.6,P02730_V488M,V,M,488,VM,V488M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.769,-4.701,2.932,,,,,,1.178,,38.75,0.0009591,0,0.0327073,0.830871
3731,P02730,E,K,480,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,10587,345,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.53,benign,0.007,tolerated,0.8,0.6994,7.732,P02730_E480K,E,K,480,EK,E480K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-2.263,-2.198,-0.065,,,,,,22.446,22.446,83.64,0.00152124,0,0.0518776,1.01831
3734,P02730,G,R,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,0,0,0,,,,,,1566,97,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.14,probably_damaging,0.964,deleterious,0.02,3.26017,16.94,P02730_G130R,G,R,130,GR,G130R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.635,-3.176,1.541,0.138,H,A,0.91,-0.57,18.429,18.429,76.29,0.00085049,0,0.0290034,0.784509
3753,P08514,I,T,596,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,5541,278,ENSG00000005961,ENST00000353281,,ITGA2B,0.59,probably_damaging,1,deleterious,0,2.25355,13.49,P08514_I596T,I,T,596,IT,I596T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.345,-3.232,1.887,,,,,,3.737,,74.59,0.000586963,0,0.0200167,0.957197
3761,P08514,G,D,273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,754,4510,ENSG00000005961,ENST00000353281,,ITGA2B,0.27,possibly_damaging,0.748,deleterious,0,4.90493,28.3,P08514_G273D,G,D,273,GD,G273D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,0.103,E,b,0.46,-0.22,,,,0.000447199,0,0.0152504,0.591336
3767,P14136,R,C,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,276,3922,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.2,probably_damaging,0.993,deleterious,0,4.8316,27.4,P14136_R88C,R,C,88,RC,R88C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.00193952,0,0.0661417,0.75458
3768,P14136,R,S,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,276,3922,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.2,probably_damaging,0.977,deleterious,0,4.90793,28.3,P14136_R88S,R,S,88,RS,R88S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.184,-3.203,2.019,,,,,,,,,0.00193952,0,0.0661417,0.80462
3790,Q9NVS9,R,W,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,0.001,0.002,,,,1257,69,ENSG00000108439,ENST00000434554,,PNPO,0.85,probably_damaging,1,deleterious,0,4.7165,26.2,Q9NVS9_R186W,R,W,186,RW,R186W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
3803,P02452,G,S,1091,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,581,82,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.75,probably_damaging,0.994,deleterious,0,5.62696,36,P02452_G1091S,G,S,1091,GS,G1091S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.657,-3.119,2.462,,,,,0,,,,0.000235972,0,0.00804714,0.711006
3810,P02452,G,S,1022,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,8,885,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.7,,,deleterious,0.01,3.01919,16.07,P02452_G1022S,G,S,1022,GS,G1022S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.657,-3.119,2.462,,,,,0,,,,0.000221158,0,0.00754193,0.711006
3820,P02452,G,V,815,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,591,25,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.56,,,deleterious,0,3.96108,20.3,P02452_G815V,G,V,815,GV,G815V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,,,,,0,,,,1.69e-05,0,0.00057776,0.656164
3822,P02452,G,V,743,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,466,477,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.51,probably_damaging,1,deleterious,0.02,4.85574,27.7,P02452_G743V,G,V,743,GV,G743V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.763,-3.609,2.846,,,,,0,,,,8.78e-05,0,0.00299246,0.644529
3858,P05164,L,W,604,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,668,2096,ENSG00000005381,ENST00000340482,,MPO,0.78,probably_damaging,1,deleterious,0,4.04722,20.8,P05164_L604W,L,W,604,LW,L604W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,,,,,,,,,,,,0.00245787,0,0.0838186,0.961407
3859,P05164,R,W,601,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,0.002,0.001,0.003,,,,,,658,2106,ENSG00000005381,ENST00000340482,,MPO,0.77,probably_damaging,0.998,deleterious,0,4.37811,23.1,P05164_R601W,R,W,601,RW,R601W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00175504,0,0.0598506,0.948836
3860,P05164,G,S,533,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,42,2805,ENSG00000005381,ENST00000340482,,MPO,0.69,probably_damaging,0.957,deleterious,0,4.98405,29.2,P05164_G533S,G,S,533,GS,G533S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00160021,0,0.0545706,0.914812
3875,P12821,Y,X,266,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.11,,,,,,,,,2986,54,ENSG00000159640,ENST00000428043,,ACE,0.23,,,,,1.30032,10.26,P12821_Y266X,Y,X,266,YX,Y266X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000142457,0,0.00485806,0.971376
3898,P35499,I,V,1160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,27317,7048,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.63,probably_damaging,0.972,deleterious,0,4.39523,23.3,P35499_I1160V,I,V,1160,IV,I1160V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.207,-2.511,1.304,,,,,,8.576,,66.29,6.58e-05,0,0.00224453,0.972484
3900,P35499,A,T,1156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,0,0,0,,,,,,27305,7060,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.63,probably_damaging,1,tolerated,0.13,4.84654,27.6,P35499_A1156T,A,T,1156,AT,A1156T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.079,-3.233,2.154,,,,,,2.198,,55.39,7.01e-05,0,0.00238991,0.871092
3968,P10253,E,K,521,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,53,1999,ENSG00000171298,ENST00000390015,CCDS32760.1,GAA,0.55,probably_damaging,1,deleterious,0,5.50879,35,P10253_E521K,E,K,521,EK,E521K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.722,-2.918,2.196,,,,,,13.213,13.213,37.92,0.000388055,0,0.0132335,0.860646
4017,Q01718,R,W,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,539,485,ENSG00000185231,ENST00000327606,CCDS11869.1,MC2R,0.46,possibly_damaging,0.888,deleterious,0,4.28888,22.4,Q01718_R137W,R,W,137,RW,R137W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.261,-5.4,4.139,,,,,,0.612,,92.26,0.00226172,0,0.0771292,0.829609
4091,P02766,Y,H,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,6905,381,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.91,probably_damaging,0.988,deleterious,0,3.99328,20.5,P02766_Y134H,Y,H,134,YH,Y134H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.483,-3.148,1.665,0.525,T,A,0.38,-0.77,10.115,10.115,73.47,0.00891659,0.0769231,0.304074,0.889028
4094,P02766,V,I,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,0.006,0.017,0,0.01,,0.003,0.02,,6929,357,ENSG00000118271,ENST00000237014,CCDS11899.1,TTR,0.97,probably_damaging,0.991,deleterious,0,3.12504,16.44,P02766_V142I,V,I,142,VI,V142I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-0.98,-1.998,1.018,0.275,E,B,0.04,-0.43,25.306,25.306,93.2,0.0227605,0,0.77618,0.948029
4108,P15884,R,Q,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,73635,762,ENSG00000196628,ENST00000570177,,TCF4,0.83,probably_damaging,1,deleterious,0,5.97255,36,P15884_R446Q,R,Q,446,RQ,R446Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,,,,,,,,,0.000502939,0,0.0171513,0.92011
4169,Q15831,L,P,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,1314,21323,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.15,probably_damaging,1,deleterious,0,4.57404,24.8,Q15831_L67P,L,P,67,LP,L67P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.318,-3.835,2.517,0.022,E,B,1.07,0.17,1.237,,75.75,0.00275467,0,0.0939401,0.696612
4170,Q15831,K,X,84,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.13,,,,,,,,,1364,21273,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.19,,,,,14.3478,48,Q15831_K84X,K,X,84,KX,K84X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.0024024,0,0.0819269,0.964034
4188,O60331,D,N,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,46937,16853,ENSG00000186111,ENST00000539785,CCDS56074.1,PIP5K1C,0.4,probably_damaging,0.999,deleterious,0,3.91074,19.89,O60331_D253N,D,N,253,DN,D253N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.139,-2.958,1.819,,,,,,,,,0.00042119,0,0.0143635,0.918825
4223,Q9GZU1,R,X,102,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.12,,,,,,,,,3895,7504,ENSG00000090674,ENST00000264079,CCDS12180.1,MCOLN1,0.18,,,,,6.8823,38,Q9GZU1_R102X,R,X,102,RX,R102X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00157958,0,0.0538669,0.900587
4248,P01130,G,G,207,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.6,0.12,,,,,,,,,220,1989,ENSG00000130164,ENST00000558013,,LDLR,0.24,,,,,0.34931,5.895,P01130_G207G,G,G,207,GG,G207G,Special,Special,3.29,3.29,0,75,75,0,60.1,60.1,0,0,,,,,,,,,,,,0.000670905,0,0.0228793,1.00426
4254,P14314,Q,X,411,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,13150,2365,ENSG00000130175,ENST00000412601,CCDS45977.1,PRKCSH,0.78,,,,,7.30588,39,P14314_Q411X,Q,X,411,QX,Q411X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
4263,O00754,P,R,355,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,148,1015,ENSG00000104774,ENST00000221363,CCDS54224.1,MAN2B1,0.35,probably_damaging,0.958,deleterious,0,4.49184,24.1,O00754_P355R,P,R,355,PR,P355R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,0.000609297,0,0.0207783,0.975779
4276,Q92947,E,K,365,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,0,0,0,,,,,,6547,236,ENSG00000105607,ENST00000222214,CCDS12286.1,GCDH,0.83,benign,0.388,deleterious,0,3.43333,17.61,Q92947_E365K,E,K,365,EK,E365K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,0.364,H,A,1.3,0.59,,,,0.002896,0,0.0987594,0.864104
4298,Q9UM47,R,C,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,9516,31832,ENSG00000074181,ENST00000263388,CCDS12326.1,NOTCH3,0.14,probably_damaging,0.999,deleterious,0,4.30428,22.5,Q9UM47_R332C,R,C,332,RC,R332C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.435,-4.777,3.342,,,,,,0.747,,40.97,,,,0.714301
4333,P49747,N,S,420,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,939,23,ENSG00000105664,ENST00000542601,,COMP,0.58,probably_damaging,0.982,deleterious,0,3.54663,18.09,P49747_N420S,N,S,420,NS,N420S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.000528323,0,0.0180169,0.994154
4336,P49747,C,R,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,609,1525,ENSG00000105664,ENST00000542601,,COMP,0.41,benign,0.073,deleterious,0.01,2.63338,14.77,P49747_C295R,C,R,295,CR,C295R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00122781,0,0.041871,0.89246
4347,P82251,A,T,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,0.003,0.001,0.005,0.002,,0.003,,0.004,572,280,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.37,benign,0.143,tolerated,0.2,1.60143,11.31,P82251_A182T,A,T,182,AT,A182T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.588,-2.339,0.751,,,,,,14.795,14.795,89.32,0.00366525,0,0.124993,0.997855
4349,P82251,T,M,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,0,0,0,0.001,,,,0.001,5572,33691,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.25,possibly_damaging,0.808,deleterious,0.03,2.12218,13.05,P82251_T123M,T,M,123,TM,T123M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.73,-4.345,2.615,,,,,,1.348,,90.14,0.00291455,0,0.099392,0.866632
4350,P82251,G,R,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,0,0,0,0.001,,,,0.004,5517,33746,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.22,probably_damaging,0.996,deleterious,0,4.41807,23.5,P82251_G105R,G,R,105,GR,G105R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.252,-2.318,1.066,,,,,,25.644,25.644,74.54,0.000915616,0,0.0312244,0.962855
4353,P12955,G,D,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,120039,14906,ENSG00000124299,ENST00000244137,CCDS42544.1,PEPD,0.56,probably_damaging,0.958,deleterious,0,4.27481,22.3,P12955_G278D,G,D,278,GD,G278D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,.,b,0.46,-0.36,,,,0.0010293,0,0.0351014,0.580516
4358,P06744,G,S,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,12448,24839,ENSG00000105220,ENST00000356487,CCDS12437.1,GPI,0.28,probably_damaging,1,deleterious,0,4.9861,29.2,P06744_G159S,G,S,159,GS,G159S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.15,-1.976,0.826,0.092,G,A,0.02,-0.59,15.371,15.371,69.89,0.000161205,0,0.00549741,0.859841
4377,P21817,M,K,2423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,66261,87604,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.48,benign,0.107,,,1.9094,12.34,P21817_M2423K,M,K,2423,MK,M2423K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.588,-3.64,2.052,,,,,,5,,38.01,,,,0.79772
4383,P21817,R,C,4820,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,146390,7475,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.96,,,,,2.43455,14.1,P21817_R4820C,R,C,4820,RC,R4820C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
4388,P21817,R,G,4909,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.16,,,,,,,,,151336,2529,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.98,,,,,2.70563,15.01,P21817_R4909G,R,G,4909,RG,R4909G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,,,,0.902988
4395,P31751,R,H,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,88,964,ENSG00000105221,ENST00000392038,CCDS12552.1,AKT2,0.57,probably_damaging,0.922,deleterious,0.02,4.86368,27.8,P31751_R274H,R,H,274,RH,R274H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.543,-2.21,0.667,0.085,.,l,1.03,-0.66,20.977,20.977,59.25,0.000401193,0,0.0136815,0.810275
4396,Q9BXM0,R,X,1070,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.05,,,,,,,,,18221,1379,ENSG00000105227,ENST00000324001,CCDS33028.1,PRX,0.73,,,,,8.94004,41,Q9BXM0_R1070X,R,X,1070,RX,R1070X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4403,P01137,C,G,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,11712,11307,ENSG00000105329,ENST00000221930,CCDS33031.1,TGFB1,0.57,probably_damaging,0.957,deleterious,0.03,3.87048,19.67,P01137_C223G,C,G,223,CG,C223G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.293,-3.36,2.067,0.029,E,b,0.75,-0.41,,,,0.00259359,0,0.0884466,0.613015
4404,P01137,C,R,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,11712,11307,ENSG00000105329,ENST00000221930,CCDS33031.1,TGFB1,0.57,probably_damaging,0.987,deleterious,0.01,3.89,19.77,P01137_C223R,C,R,223,CR,C223R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,0.029,E,b,1.66,-0.41,,,,0.00259359,0,0.0884466,0.502928
4405,P01137,R,H,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,11698,11321,ENSG00000105329,ENST00000221930,CCDS33031.1,TGFB1,0.56,probably_damaging,0.98,deleterious,0.01,4.34769,22.9,P01137_R218H,R,H,218,RH,R218H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.026,E,B,1.03,-0.47,,,,0.00359352,0,0.122547,0.589382
4406,P01137,R,C,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,11697,11322,ENSG00000105329,ENST00000221930,CCDS33031.1,TGFB1,0.56,probably_damaging,0.996,deleterious,0,4.10003,21.1,P01137_R218C,R,C,218,RC,R218C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.026,E,B,1.66,-0.47,,,,0.00359352,0,0.122547,0.504523
4412,#N/A,T,R,344,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,406,31,ENSG00000255730,ENST00000540732,,CTC-435M10.3,0.72,probably_damaging,0.991,deleterious,0,4.97369,29.1,#N/A_T344R,T,R,344,TR,T344R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,,,,,,,,,,,,,,,0.951246
4432,P02655,K,T,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,0.001,0,0.002,0.001,,,,0.003,2781,791,ENSG00000234906,ENST00000252490,CCDS12650.1,APOC2,0.41,benign,0.007,deleterious,0.01,1.92966,12.41,P02655_K41T,K,T,41,KT,K41T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-2.23,-3.399,1.169,,,,,,3.668,,91.09,0.015461,0,0.52725,0.928852
4473,P13807,R,X,382,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.08,,,,,,,,,3329,6,ENSG00000104812,ENST00000541188,,GYS1,0.58,,,,,6.69026,38,P13807_R382X,R,X,382,RX,R382X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000705835,0,0.0240704,0.977351
4482,Q8TD43,K,R,560,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,42553,11440,ENSG00000130529,ENST00000355712,,TRPM4,0.65,probably_damaging,0.953,tolerated,0.07,4.7031,26.1,Q8TD43_K560R,K,R,560,KR,K560R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,,,,,,,,,,,,0.000650354,0,0.0221784,1.00595
4496,P59046,R,X,284,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.13,0.001,0.002,0,0.01,,,0.03,,13509,17066,ENSG00000142405,ENST00000391772,,NLRP12,0.32,,,,,4.00321,20.5,P59046_R284X,R,X,284,RX,R284X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4515,P19429,R,W,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,3587,2376,ENSG00000129991,ENST00000344887,CCDS42628.1,TNNI3,0.69,probably_damaging,0.992,deleterious,0,3.54641,18.09,P19429_R145W,R,W,145,RW,R145W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.459,-5.188,3.729,1.158,.,?,1.67,2.08,0.225,,48.1,0.00697143,0,0.23774,0.689394
4516,P19429,R,G,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,3587,2376,ENSG00000129991,ENST00000344887,CCDS42628.1,TNNI3,0.69,probably_damaging,0.983,deleterious,0.01,3.21871,16.78,P19429_R145G,R,G,145,RG,R145G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.459,-3.224,1.765,1.158,.,?,0.91,2.08,2.1,,48.1,0.00697143,0,0.23774,0.829107
4517,P19429,L,Q,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,3585,2378,ENSG00000129991,ENST00000344887,CCDS42628.1,TNNI3,0.69,possibly_damaging,0.892,deleterious,0,4.56981,24.8,P19429_L144Q,L,Q,144,LQ,L144Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.117,-3.901,2.784,0.533,S,A,1.19,0.92,,,,0.00426271,0,0.145367,0.69512
4535,P04198,R,H,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,,,,,,,,,5283,1161,ENSG00000134323,ENST00000281043,CCDS1687.1,MYCN,0.82,probably_damaging,0.998,deleterious,0,4.2759,22.3,P04198_R382H,R,H,382,RH,R382H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.426,-4.225,2.799,,,,,,1.328,,68.75,,,,0.823256
4536,P04198,R,S,393,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.17,,,,,,,,,5315,1129,ENSG00000134323,ENST00000281043,CCDS1687.1,MYCN,0.85,probably_damaging,0.997,deleterious,0,4.18319,21.7,P04198_R393S,R,S,393,RS,R393S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.101,-3.241,2.14,,,,,,,,,,,,0.773089
4537,P04198,R,H,393,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.17,,,,,,,,,5316,1128,ENSG00000134323,ENST00000281043,CCDS1687.1,MYCN,0.85,probably_damaging,0.998,deleterious,0,4.85861,27.7,P04198_R393H,R,H,393,RH,R393H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,,,,,,,,,,,,0.777057
4538,P04198,R,H,394,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.17,,,,,,,,,5319,1125,ENSG00000134323,ENST00000281043,CCDS1687.1,MYCN,0.85,probably_damaging,0.996,deleterious,0,4.85637,27.7,P04198_R394H,R,H,394,RH,R394H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,,,,,,,,,,,,0.777057
4585,P39210,R,Q,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,45,730,ENSG00000115204,ENST00000405076,,MPV17,0.44,probably_damaging,0.949,tolerated,0.17,4.49953,24.2,P39210_R50Q,R,Q,50,RQ,R50Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.447,-3.44,1.993,,,,,,1.15,,65.91,,,,0.84284
4592,Q9UI10,R,C,373,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,0,0,0,,,,,,1898,67,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.71,probably_damaging,0.935,deleterious,0,2.16895,13.21,Q9UI10_R373C,R,C,373,RC,R373C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.0041583,0,0.141806,0.929023
4599,Q9UI10,R,X,208,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,623,309,ENSG00000115211,ENST00000445933,CCDS46244.1,EIF2B4,0.4,,,,,4.78085,26.9,Q9UI10_R208X,R,X,208,RX,R208X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00446976,0,0.152428,0.936594
4663,Q99814,M,V,535,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,575,2230,ENSG00000116016,ENST00000263734,CCDS1825.1,EPAS1,0.61,probably_damaging,1,deleterious,0,4.21256,21.9,Q99814_M535V,M,V,535,MV,M535V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.406,-2.671,1.265,,,,,,,,,0.000195049,0,0.00665157,0.923439
4756,P01732,G,S,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,426,4480,ENSG00000153563,ENST00000456996,CCDS1993.1,CD8A,0.56,probably_damaging,0.999,deleterious,0.02,3.37669,17.39,P01732_G111S,G,S,111,GS,G111S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.741,-3.036,2.295,,E,g,0.02,0.06,,,,0.00151049,0,0.0515109,0.729009
4767,P43403,R,C,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,247,436,ENSG00000115085,ENST00000442208,,ZAP70,0.69,probably_damaging,1,deleterious,0,4.75045,26.6,P43403_R339C,R,C,339,RC,R339C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00160064,0,0.0545852,0.879238
4768,P43403,R,H,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,246,435,ENSG00000115085,ENST00000442208,,ZAP70,0.69,probably_damaging,0.999,deleterious,0,4.97788,29.1,P43403_R339H,R,H,339,RH,R339H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00160064,0,0.0545852,0.924823
4786,Q9UNE0,C,R,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,59975,34817,ENSG00000135960,ENST00000409271,,EDAR,0.18,possibly_damaging,0.487,deleterious,0,4.30314,22.5,Q9UNE0_C87R,C,R,87,CR,C87R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,0.00122959,0,0.0419315,0.713488
4808,P19447,R,X,361,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.05,,,,,,,,,7323,23,ENSG00000163161,ENST00000493187,,ERCC3,0.5,,,,,7.61982,39,P19447_R361X,R,X,361,RX,R361X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0022398,0,0.0763817,0.959768
4838,O60315,Q,R,1095,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,40287,423,ENSG00000169554,ENST00000539609,CCDS54403.1,ZEB2,0.92,benign,0.163,tolerated,0.11,2.82705,15.42,O60315_Q1095R,Q,R,1095,QR,Q1095R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,0.00346598,0,0.118197,0.969215
4888,Q15858,P,T,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,0.021,0.006,0.029,0.02,,0.03,0.004,0.03,21973,2839,ENSG00000169432,ENST00000452182,,SCN9A,0.88,benign,0.035,deleterious,0.03,0.59288,7.198,Q15858_P475T,P,T,475,PT,P475T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,,,,0.956379
4950,P02461,G,D,882,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,650,3097,ENSG00000168542,ENST00000317840,,COL3A1,0.76,,,deleterious,0,4.235,22,P02461_G882D,G,D,882,GD,G882D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,0,,,,1.35e-05,0,0.000460338,0.660197
5031,Q9Y276,R,X,56,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.09,,,,,,,,,89,65,ENSG00000074582,ENST00000423377,,BCS1L,0.51,,,,,5.20087,33,Q9Y276_R56X,R,X,56,RX,R56X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00307479,0,0.104857,0.951177
5037,Q9Y276,S,N,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,423,18,ENSG00000074582,ENST00000412366,CCDS2419.1,BCS1L,0.66,probably_damaging,0.991,deleterious,0,4.86776,27.8,Q9Y276_S277N,S,N,277,SN,S277N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.468,-3.103,1.635,,,,,,3.293,,74.94,0.0044178,0,0.150656,0.960305
5038,Q9Y276,V,M,353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,986,222,ENSG00000074582,ENST00000412366,CCDS2419.1,BCS1L,0.84,benign,0.189,deleterious,0.04,3.09271,16.33,Q9Y276_V353M,V,M,353,VM,V353M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.503,-2.46,0.957,,,,,,13.491,13.491,83.29,0.00589349,0,0.20098,0.986267
5049,Q9GZT5,R,Q,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,0,0,0,,,,,,6140,110,ENSG00000135925,ENST00000258411,CCDS2426.1,WNT10A,0.31,probably_damaging,0.998,deleterious,0,5.56641,35,Q9GZT5_R128Q,R,Q,128,RQ,R128Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,,,,,,,,,0.0021881,0,0.0746186,0.896209
5066,P17661,A,P,360,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,1272,2427,ENSG00000175084,ENST00000373960,CCDS33383.1,DES,0.77,probably_damaging,0.991,deleterious,0.01,5.25962,33,P17661_A360P,A,P,360,AP,A360P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.175,-3.39,2.215,,,,,,,,,0.00413313,0,0.140948,0.813674
5067,P17661,L,P,385,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,1348,2351,ENSG00000175084,ENST00000373960,CCDS33383.1,DES,0.82,probably_damaging,0.999,deleterious,0,4.63295,25.4,P17661_L385P,L,P,385,LP,L385P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00340682,0,0.11618,0.777763
5068,P17661,Q,P,389,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,1360,2339,ENSG00000175084,ENST00000373960,CCDS33383.1,DES,0.83,probably_damaging,0.991,deleterious,0,4.24322,22.1,P17661_Q389P,Q,P,389,QP,Q389P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.489,-3.39,1.901,,,,,,,,,0.00236587,0,0.0806811,0.884384
5072,O75147,R,X,76,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,2953,6040,ENSG00000124006,ENST00000289656,,OBSL1,0.12,,,,,6.85061,38,O75147_R76X,R,X,76,RX,R76X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5093,P53420,R,X,1374,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,141979,14810,ENSG00000081052,ENST00000329662,,COL4A4,0.81,,,,,10.6474,44,P53420_R1374X,R,X,1374,RX,R1374X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5143,P21549,G,R,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,345,4278,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.16,probably_damaging,1,deleterious,0.03,4.29703,22.5,P21549_G63R,G,R,63,GR,G63R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.466,-3.21,1.744,0.011,H,A,0.91,-0.3,12.199,12.199,46.68,0.00322105,0,0.109844,0.735855
5145,P21549,Q,X,69,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,363,4260,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.18,,,,,8.11061,40,P21549_Q69X,Q,X,69,QX,Q69X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00308359,0,0.105157,0.955443
5146,P21549,S,L,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,400,4223,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.21,probably_damaging,0.944,deleterious,0,3.04589,16.16,P21549_S81L,S,L,81,SL,S81L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.558,-3.618,2.06,,.,B,0.82,-0.7,4.232,,77.81,0.00354447,0,0.120874,0.626233
5147,P21549,G,R,82,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,402,4221,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.21,probably_damaging,1,deleterious,0,2.90553,15.68,P21549_G82R,G,R,82,GR,G82R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.689,-4.09,3.401,,H,A,0.91,-0.61,1.371,,41.58,0.00121431,0,0.0414103,0.55202
5148,P21549,G,E,82,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,403,4220,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.21,probably_damaging,1,deleterious,0,2.37576,13.9,P21549_G82E,G,E,82,GE,G82E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.689,-3.806,3.117,,H,A,0.75,-0.61,1.746,,41.58,0.00121431,0,0.0414103,0.564315
5149,P21549,H,R,83,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,406,4217,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.21,probably_damaging,0.999,deleterious,0.01,2.45233,14.16,P21549_H83R,H,R,83,HR,H83R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.594,-3.043,1.449,0.071,H,A,1.03,-0.74,11.497,11.497,78.06,0.00255994,0,0.0872992,0.764354
5201,P21549,W,X,251,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.05,,,,,,,,,3992,833,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.64,,,,,7.6197,39,P21549_W251X,W,X,251,WX,W251X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00180701,0,0.0616229,0.929464
5207,P21549,E,D,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,0,0,0,,,,,,934,34,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.7,probably_damaging,0.956,deleterious,0.01,4.16504,21.5,P21549_E274D,E,D,274,ED,E274D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.085,-3.322,2.237,0.091,H,A,0.29,-0.12,2.199,,61.48,0.00203884,0,0.0695288,0.680566
5227,P21549,G,D,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,1215,993,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.89,probably_damaging,1,deleterious,0,2.79914,15.32,P21549_G350D,G,D,350,GD,G350D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.707,-3.706,2.999,0.172,.,B,0.46,-0.72,1.702,,51.79,0.00300981,0,0.102641,0.558666
5263,Q8NBS3,S,P,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,3791,2607,ENSG00000088836,ENST00000539553,CCDS54446.1,SLC4A11,0.23,probably_damaging,0.999,deleterious,0,3.64081,18.52,Q8NBS3_S197P,S,P,197,SP,S197P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.000743483,0,0.0253543,0.992445
5294,P78504,G,D,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,9974,14774,ENSG00000101384,ENST00000423891,,JAG1,0.11,probably_damaging,0.998,deleterious,0,5.00021,29.4,P78504_G115D,G,D,115,GD,G115D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00029868,0,0.0101856,0.97884
5311,Q96KJ9,E,K,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,0.002,0.006,0,0.001,,,0.004,,6867,29,ENSG00000131055,ENST00000376075,CCDS13187.1,COX4I2,0.81,benign,0.433,deleterious,0.01,2.14423,13.13,Q96KJ9_E138K,E,K,138,EK,E138K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.452,-3.031,1.579,0.572,H,A,1.3,-0.11,6.925,,76.61,0.00767462,0,0.26172,0.900833
5327,P23526,W,X,112,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.09,,,,,,,,,9482,1002,ENSG00000101444,ENST00000217426,CCDS13233.1,AHCY,0.26,,,,,5.2842,33,P23526_W112X,W,X,112,WX,W112X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00101424,0,0.0345878,0.889194
5336,P43026,P,T,436,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,1080,762,ENSG00000125965,ENST00000374372,CCDS13254.1,GDF5,0.87,probably_damaging,0.999,deleterious,0,3.93954,20.1,P43026_P436T,P,T,436,PT,P436T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-0.966,-3.239,2.273,0.827,S,B,0.3,-0.36,,,,0.0018007,0,0.0614077,0.707293
5359,P00813,P,L,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,0.001,0.002,,,,3880,1365,ENSG00000196839,ENST00000372874,CCDS13335.1,ADA,0.75,benign,0.012,tolerated,0.33,2.24926,13.48,P00813_P274L,P,L,274,PL,P274L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.414,-2.238,0.824,0.594,T,A,1.07,-0.22,14.276,14.276,85.4,0.00523484,0,0.178519,0.918985
5376,P10619,S,L,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,317,2340,ENSG00000064601,ENST00000419493,,CTSA,0.26,probably_damaging,1,deleterious,0,6.02515,37,P10619_S90L,S,L,90,SL,S90L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.146,-3.175,2.029,0.008,T,A,0.82,-0.93,,,,0.00117963,0,0.0402278,0.597929
5382,P10619,G,S,457,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,284,696,ENSG00000064601,ENST00000372484,CCDS13385.2,CTSA,0.92,probably_damaging,0.999,deleterious,0,5.41946,35,P10619_G457S,G,S,457,GS,G457S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00679232,0,0.231632,0.945606
5388,O95528,R,W,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,15943,10897,ENSG00000197496,ENST00000359271,CCDS13402.1,SLC2A10,0.24,probably_damaging,1,deleterious,0,2.92155,15.74,O95528_R132W,R,W,132,RW,R132W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.064,-5.197,4.133,,,,,,,,,,,,0.746629
5389,O95528,W,X,170,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.01,,,,,,,,,16059,10781,ENSG00000197496,ENST00000359271,CCDS13402.1,SLC2A10,0.31,,,,,6.0741,37,O95528_W170X,W,X,170,WX,W170X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
5406,Q9H4B7,R,W,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,0,0,0,0.001,0.002,,,,5125,2276,ENSG00000101162,ENST00000217133,CCDS13475.1,TUBB1,0.71,possibly_damaging,0.724,deleterious,0,4.05512,20.8,Q9H4B7_R318W,R,W,318,RW,R318W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.004,E,B,1.67,0.63,,,,0.000434119,0,0.0148044,0.632546
5408,P43681,S,L,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,,,,,,,,,9140,3966,ENSG00000101204,ENST00000370263,CCDS13517.1,CHRNA4,0.45,probably_damaging,1,deleterious,0,5.29676,34,P43681_S284L,S,L,284,SL,S284L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.146,-3.175,2.029,0.096,H,a,0.82,0,,,,0.00019827,0,0.00676141,0.678636
5409,P43681,S,F,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,9128,3978,ENSG00000101204,ENST00000370263,CCDS13517.1,CHRNA4,0.45,probably_damaging,1,deleterious,0,4.84609,27.6,P43681_S280F,S,F,280,SF,S280F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.146,-3.884,2.738,0.2,H,A,0.85,0,,,,0.000170684,0,0.00582068,0.690117
5515,P57727,W,C,251,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,309,1184,ENSG00000160183,ENST00000433957,,TMPRSS3,0.55,probably_damaging,1,deleterious,0,3.69484,18.77,P57727_W251C,W,C,251,WC,W251C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.008,-5.129,4.121,,,,,,0.64,,43.83,0.00145393,0,0.0495821,0.759469
5523,P35520,I,T,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,0.003,0.004,0.003,,,,,,175,1155,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.5,possibly_damaging,0.874,tolerated,0.06,2.12227,13.05,P35520_I278T,I,T,278,IT,I278T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.566,-2.193,0.627,,E,B,0.7,-1.69,20.307,20.307,87.3,0.00289187,0,0.0986187,0.823855
5580,O43435,F,Y,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,2076,430,ENSG00000184058,ENST00000332710,CCDS13767.1,TBX1,0.3,benign,0.032,tolerated,0.28,3.38666,17.43,O43435_F148Y,F,Y,148,FY,F148Y,Hydrophobic,Hydrophobic,3.32,5.66,2.34,165,181,16,189.9,193.6,3.7,22,-1.535,-3.103,1.568,0.462,E,B,0.37,0.72,0.552,,30.65,0.00416054,0,0.141883,0.841913
5610,P35625,G,V,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,1128,714,ENSG00000100234,ENST00000382049,,TIMP3,0.94,benign,0.001,deleterious,0,1.45231,10.8,P35625_G191V,G,V,191,GV,G191V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,,,,0.944066
5611,P35625,Y,C,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,1121,707,ENSG00000100234,ENST00000266085,CCDS13911.1,TIMP3,0.91,probably_damaging,0.979,deleterious,0.05,2.54947,14.48,P35625_Y191C,Y,C,191,YC,Y191C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.651,-4.543,2.892,,,,,,0.294,,16.11,,,,0.734041
5616,P35579,R,L,1165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,2256,445,ENSG00000100345,ENST00000216181,CCDS13927.1,MYH9,0.59,probably_damaging,0.976,deleterious,0.03,4.36991,23.1,P35579_R1165L,R,L,1165,RL,R1165L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.064,-3.233,2.169,,,,,,,,,7.77e-05,0,0.00265075,0.829042
5631,Q9H2D6,Q,X,297,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.03,,,,,,,,,25824,3126,ENSG00000100106,ENST00000406386,CCDS43015.1,TRIOBP,0.13,,,,,4.47004,23.9,Q9H2D6_Q297X,Q,X,297,QX,Q297X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
5633,Q9H2D6,Q,X,581,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,26676,2274,ENSG00000100106,ENST00000406386,CCDS43015.1,TRIOBP,0.25,,,,,5.48576,35,Q9H2D6_Q581X,Q,X,581,QX,Q581X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
5665,P00387,D,G,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,0,0,0,,,,,,9546,4059,ENSG00000100243,ENST00000407623,CCDS14040.1,CYB5R3,0.78,probably_damaging,0.998,deleterious,0.03,4.43781,23.6,P00387_D217G,D,G,217,DG,D217G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.00378538,0,0.129089,0.95747
5695,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.6,0.11,,,,,,,,,2077,12644,,ENSR00000620151,,,,,,,,0.983692,9.016,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5698,O43819,E,K,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,0,0,0,,,,,,1469,9,ENSG00000130489,ENST00000395693,CCDS14095.1,SCO2,0.53,probably_damaging,0.999,deleterious,0,3.98434,20.4,O43819_E140K,E,K,140,EK,E140K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.212,-2.014,0.802,0.059,H,A,1.3,-0.51,17.708,17.708,63.91,0.00724781,0,0.247165,0.722774
5729,P15289,D,H,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,1480,85,ENSG00000100299,ENST00000547805,,ARSA,0.5,probably_damaging,1,deleterious,0,3.59702,18.32,P15289_D255H,D,H,255,DH,D255H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.29,-4.32,3.03,0.024,H,A,0.58,-0.02,1.228,,51.08,0.0008821,0,0.0300814,0.668002
5778,P56539,A,T,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,624,1093,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.56,probably_damaging,0.967,deleterious,0,3.292,17.06,P56539_A85T,A,T,85,AT,A85T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.041,-2.749,1.708,,,,,,7.166,7.166,74.17,0.00989417,0,0.337411,0.911655
5779,P56539,L,P,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,628,1089,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.57,probably_damaging,0.984,deleterious,0,2.96735,15.89,P56539_L86P,L,P,86,LP,L86P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.596,-4.434,2.838,,,,,,1.391,,52.98,0.0137576,0,0.469164,0.770863
5783,Q8NCE2,R,Q,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,9113,603,ENSG00000163719,ENST00000420925,,MTMR14,0.31,possibly_damaging,0.798,deleterious,0,6.06581,37,Q8NCE2_R90Q,R,Q,90,RQ,R90Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
5785,Q96HD1,R,H,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,0.001,0.003,0,0.001,,,0.002,,3141,779,ENSG00000163703,ENST00000452070,CCDS2593.1,CRELD1,0.25,probably_damaging,0.924,tolerated,0.17,3.53328,18.03,Q96HD1_R107H,R,H,107,RH,R107H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.765,-4.259,2.494,,,,,,1.713,,55.95,0.00196723,0,0.0670867,0.857348
5864,P37173,R,C,528,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,84876,2658,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.93,probably_damaging,1,deleterious,0,5.32402,34,P37173_R528C,R,C,528,RC,R528C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,,,,0.719288
5866,P37173,R,C,537,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,84903,2631,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.95,probably_damaging,1,deleterious,0,4.86968,27.9,P37173_R537C,R,C,537,RC,R537C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,,,,0.719288
5915,Q14524,R,X,1569,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.13,,,,,,,,,81812,1184,ENSG00000183873,ENST00000449557,,SCN5A,0.8,,,,,9.25716,42,Q14524_R1569X,R,X,1569,RX,R1569X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5922,Q14524,P,L,1244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,70832,12164,ENSG00000183873,ENST00000449557,,SCN5A,0.63,probably_damaging,0.997,deleterious,0.03,3.26783,16.97,Q14524_P1244L,P,L,1244,PL,P1244L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
5925,Q14524,R,Q,1139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,0.001,0,0.001,0.01,0.04,0.003,,0.003,57932,25064,ENSG00000183873,ENST00000449557,,SCN5A,0.58,probably_damaging,0.973,tolerated,0.18,3.23287,16.84,Q14524_R1139Q,R,Q,1139,RQ,R1139Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
5945,Q8NEW7,R,W,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,7831,1723,ENSG00000181585,ENST00000326431,CCDS43081.1,TMIE,0.54,probably_damaging,0.997,deleterious,0,4.41772,23.4,Q8NEW7_R84W,R,W,84,RW,R84W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.00180386,0,0.0615153,0.773222
5960,Q9NSU2,R,X,154,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.05,,,,,,,,,875,289,ENSG00000213689,ENST00000444177,,TREX1,0.51,,,,,2.42922,14.08,Q9NSU2_R154X,R,X,154,RX,R154X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00387152,0,0.132027,0.951177
5964,Q9NSU2,T,P,293,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,1292,81,ENSG00000213689,ENST00000444177,,TREX1,0.96,possibly_damaging,0.446,deleterious,0.02,1.85097,12.15,Q9NSU2_T293P,T,P,293,TP,T293P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.00273724,0,0.0933457,0.968141
5981,O43772,Q,R,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.01,,,,,,,,,429,1705,ENSG00000178537,ENST00000544097,,SLC25A20,0.75,probably_damaging,1,deleterious,0,5.16772,32,O43772_Q188R,Q,R,188,QR,Q188R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,0.00615674,0,0.209958,0.945958
5990,P55268,R,Q,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,1893,163,ENSG00000172037,ENST00000305544,CCDS2789.1,LAMB2,0.14,probably_damaging,0.999,deleterious,0,5.26523,33,P55268_R246Q,R,Q,246,RQ,R246Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,,,,0.81111
5991,P55268,R,W,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,1892,164,ENSG00000172037,ENST00000305544,CCDS2789.1,LAMB2,0.14,probably_damaging,1,deleterious,0,3.61527,18.4,P55268_R246W,R,W,246,RW,R246W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,,,,0.757477
6004,P63316,G,D,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0,,,,,,,,,707,131,ENSG00000114854,ENST00000232975,CCDS2857.1,TNNC1,0.99,probably_damaging,0.998,deleterious,0.04,4.67438,25.8,P63316_G159D,G,D,159,GD,G159D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.27,-3.33,2.06,0.747,S,l,0.46,1.04,2.576,,88.2,0.0438072,0,1.49392,0.837462
6021,O75369,Q,P,203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,297,91992,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.08,probably_damaging,0.996,deleterious,0.01,4.56453,24.7,O75369_Q203P,Q,P,203,QP,Q203P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.618,-3.535,1.917,0.392,H,A,0.12,-0.39,1.679,,92.12,2.99e-05,0,0.00101813,0.922306
6139,P41180,L,R,773,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,30110,1016,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.72,probably_damaging,0.976,deleterious,0,3.7497,19.04,P41180_L773R,L,R,773,LR,L773R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.853,-4.329,2.476,,,,,,1.484,,31.35,0.000391452,0,0.0133493,0.844058
6157,P08100,N,S,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,137,6393,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.04,probably_damaging,0.967,deleterious,0,4.70174,26.1,P08100_N15S,N,S,15,NS,N15S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.26,-2.671,1.411,0.419,.,a,0.34,-0.6,,,,0.00186591,0.00600601,0.0636314,0.820715
6158,P08100,T,M,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,143,6387,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.05,possibly_damaging,0.876,deleterious,0,5.13661,32,P08100_T17M,T,M,17,TM,T17M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.245,-4.215,2.97,0.806,T,A,0.77,-0.64,,,,0.00177508,0.00302115,0.0605338,0.689388
6168,P08100,G,R,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,409,6121,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.3,probably_damaging,1,deleterious,0,5.14309,32,P08100_G106R,G,R,106,GR,G106R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.149,H,P,0.91,-0.55,,,,0.00032069,0,0.0109362,0.57916
6169,P08100,G,W,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,409,6121,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.3,probably_damaging,1,deleterious,0,4.7682,26.8,P08100_G106W,G,W,106,GW,G106W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-0.921,-4.833,3.912,0.149,H,P,0.76,-0.55,,,,0.00032069,0,0.0109362,0.574331
6172,P08100,R,W,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,2277,4253,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.39,probably_damaging,1,deleterious,0,3.84902,19.55,P08100_R135W,R,W,135,RW,R135W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.034,H,A,1.67,0.45,,,,0.000271685,0,0.00926501,0.634709
6173,P08100,R,L,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,2278,4252,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.39,probably_damaging,1,deleterious,0,5.41682,35,P08100_R135L,R,L,135,RL,R135L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.398,-3.094,1.696,0.034,H,A,1.75,0.45,,,,0.000271685,0,0.00926501,0.725246
6303,P48431,S,X,83,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.19,,,,,,,,,674,707,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.26,,,,,5.02494,29.7,P48431_S83X,S,X,83,SX,S83X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00403199,0,0.137499,0.953542
6304,P48431,E,X,93,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.23,,,,,,,,,703,678,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.29,,,,,7.12175,38,P48431_E93X,E,X,93,EX,E93X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00102469,0,0.0349442,0.910457
6305,P48431,L,P,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.23,,,,,,,,,716,665,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.31,probably_damaging,0.99,deleterious,0,3.64574,18.54,P48431_L97P,L,P,97,LP,L97P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00125063,0,0.0426491,0.723608
6342,Q13144,P,S,323,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,152,7,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.45,probably_damaging,0.998,deleterious,0,5.46198,35,Q13144_P323S,P,S,323,PS,P323S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.035,-3.163,2.128,,,,,,,,,0.00080772,0,0.0275449,0.860028
6343,Q13144,C,R,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,116,43,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.46,benign,0.144,tolerated,0.32,2.68829,14.95,Q13144_C335R,C,R,335,CR,C335R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.545,-3.933,2.388,,,,,,2.523,,87.93,0.00209944,0,0.0715951,0.852945
6344,Q13144,R,W,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,104,55,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.47,probably_damaging,0.981,deleterious,0,4.80831,27.2,Q13144_R339W,R,W,339,RW,R339W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.402,-5.162,3.76,,,,,,0.337,,72.12,0.00170161,0,0.0580284,0.900234
6409,P35913,H,Y,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,9008,8046,ENSG00000133256,ENST00000429163,CCDS46993.1,PDE6B,0.48,probably_damaging,0.992,deleterious,0,4.48924,24.1,P35913_H278Y,H,Y,278,HY,H278Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.000641654,0,0.0218817,0.993833
6464,P57679,Q,X,879,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.03,0,0,0,,,,,,80198,6032,ENSG00000072840,ENST00000382674,CCDS3383.1,EVC,0.89,,,,,5.79015,36,P57679_Q879X,Q,X,879,QX,Q879X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00448617,0,0.152988,0.94086
6476,O76024,R,Q,859,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,0,0,0,,,,,,13884,513,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.97,probably_damaging,0.978,tolerated,0.06,2.41304,14.03,O76024_R859Q,R,Q,859,RQ,R859Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.402,-3.289,1.887,,,,,,2.98,,55.96,0.0100012,0,0.341062,0.84128
6591,Q99697,V,L,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,453,10,ENSG00000164093,ENST00000394598,CCDS3692.1,PITX2,0.41,probably_damaging,0.936,deleterious,0.01,5.67985,36,Q99697_V129L,V,L,129,VL,V129L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.465,-2.365,0.9,,,,,,,,,0.00234698,0,0.0800367,0.925616
6612,P08235,R,X,830,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.08,,,,,,,,,355402,116,ENSG00000151623,ENST00000512865,CCDS54811.1,NR3C2,0.96,,,,,6.89039,38,P08235_R830X,R,X,830,RX,R830X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000736133,0,0.0251037,0.977351
6627,O95237,S,R,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,524,318,ENSG00000121207,ENST00000507827,CCDS3789.1,LRAT,0.76,probably_damaging,0.999,deleterious,0,3.1146,16.41,O95237_S175R,S,R,175,SR,S175R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.068,-3.564,2.496,,,,,,,,,0.00428073,0.0181818,0.145982,0.763062
6646,P12235,A,D,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,1742,579,ENSG00000151729,ENST00000281456,CCDS34114.1,SLC25A4,0.41,probably_damaging,0.997,deleterious,0,5.21862,33,P12235_A123D,A,D,123,AD,A123D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.466,-3.375,1.909,0.107,H,A,0.75,-0.76,2.776,,74.5,0.00208793,0,0.0712026,0.722727
6701,O14746,K,N,902,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,1984,293,ENSG00000164362,ENST00000310581,CCDS3861.2,TERT,0.8,probably_damaging,1,deleterious,0,2.89638,15.65,O14746_K902N,K,N,902,KN,K902N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-0.979,-3.323,2.344,,,,,,,,,0.00158555,0,0.0540706,0.724337
6709,O14746,A,V,716,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,4231,12330,ENSG00000164362,ENST00000296820,,TERT,0.89,probably_damaging,0.996,deleterious,0,2.92467,15.75,O14746_A716V,A,V,716,AV,A716V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.013,-2.896,1.883,,,,,,,,,0.00099499,0,0.0339312,0.832464
6723,Q9HCJ1,G,R,389,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,3445,2556,ENSG00000154122,ENST00000284268,CCDS3885.1,ANKH,0.79,possibly_damaging,0.64,deleterious,0.01,4.957,28.9,Q9HCJ1_G389R,G,R,389,GR,G389R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.15,-3.663,2.513,,,,,,2.455,,77.64,0.00517103,0,0.176343,0.841765
6868,P35556,E,K,391,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,142640,66884,ENSG00000138829,ENST00000262464,CCDS34222.1,FBN2,0.13,benign,0.32,deleterious,0.04,4.71442,26.2,P35556_E391K,E,K,391,EK,E391K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.577,-3.018,1.441,,,,,,3.321,,72.84,,,,0.920116
6911,Q9UH77,R,Q,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,33907,1727,ENSG00000146021,ENST00000506491,,KLHL3,0.6,probably_damaging,0.998,deleterious,0,5.85811,36,Q9UH77_R302Q,R,Q,302,RQ,R302Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00211485,0,0.0721207,0.976146
7030,O15303,E,K,781,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,3248,198,ENSG00000113262,ENST00000231188,CCDS4442.1,GRM6,0.89,probably_damaging,0.996,deleterious,0,4.78716,27,O15303_E781K,E,K,781,EK,E781K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.0011632,0,0.0396674,0.848701
7041,P35916,E,K,1106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,690,4,ENSG00000037280,ENST00000261937,CCDS4457.1,FLT4,0.81,possibly_damaging,0.682,deleterious,0,4.78354,26.9,P35916_E1106K,E,K,1106,EK,E1106K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.235,-2.97,1.735,,,,,,0.67,,18.42,0.000220208,0,0.00750954,0.928083
7042,P35916,I,T,1086,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,749,56,ENSG00000037280,ENST00000261937,CCDS4457.1,FLT4,0.8,probably_damaging,0.977,deleterious,0,4.26391,22.2,P35916_I1086T,I,T,1086,IT,I1086T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.212,-3.239,2.027,,,,,,,,,0.000870925,0,0.0297003,0.855563
7051,Q12948,I,M,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.16,,,,,,,,,377,3070,ENSG00000054598,ENST00000380874,CCDS4473.1,FOXC1,0.23,probably_damaging,1,deleterious,0,3.14978,16.53,Q12948_I126M,I,M,126,IM,I126M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.313,-3.807,2.494,,,,,,,,,0.000311038,0,0.010607,0.843994
7124,P13942,G,E,748,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,3360,11839,ENSG00000204248,ENST00000395197,,COL11A2,0.45,probably_damaging,0.999,deleterious,0,3.8212,19.4,P13942_G748E,G,E,748,GE,G748E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.15,-3.395,2.245,,,,,,1.923,,47.75,0.000223366,0,0.00761723,0.846403
7126,P13942,P,T,561,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,250,11,ENSG00000204248,ENST00000395197,,COL11A2,0.33,possibly_damaging,0.481,tolerated,0.17,2.64255,14.8,P13942_P561T,P,T,561,PT,P561T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,0.000254999,0,0.008696,0.997389
7128,Q9HB96,R,X,141,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.03,,,,,,,,,3558,11185,ENSG00000112039,ENST00000229769,CCDS4805.1,FANCE,0.26,,,,,3.64063,18.51,Q9HB96_R141X,R,X,141,RX,R141X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7129,O00294,F,L,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,0,0,0,,,,,,4132,66,ENSG00000112041,ENST00000229771,CCDS4807.1,TULP1,0.91,probably_damaging,0.999,deleterious,0.01,5.43159,35,O00294_F491L,F,L,491,FL,F491L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-0.841,-2.908,2.067,0.095,E,B,0.03,-0.19,,,,0.000939913,0,0.032053,0.717879
7132,O00294,F,S,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,321,65,ENSG00000112041,ENST00000229771,CCDS4807.1,TULP1,0.7,probably_damaging,0.999,deleterious,0,4.33313,22.8,O00294_F382S,F,S,382,FS,F382S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.203,-3.623,2.42,0.006,E,B,0.85,0.12,3.473,,78.23,0.00288731,0,0.0984631,0.662467
7354,P49639,Y,X,28,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.17,,,,,,,,,146,499,ENSG00000105991,ENST00000343060,CCDS5401.1,HOXA1,0.08,,,,,3.83658,19.49,P49639_Y28X,Y,X,28,YX,Y28X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
7380,Q9UMR3,I,M,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,4865,17266,ENSG00000164532,ENST00000408931,CCDS43568.1,TBX20,0.34,probably_damaging,0.995,deleterious,0,3.50456,17.91,Q9UMR3_I152M,I,M,152,IM,I152M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.628,-3.807,2.179,,E,B,0.07,-0.59,1.128,,35.57,0.00141816,0,0.0483623,0.701909
7416,P35557,G,R,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,443,943,ENSG00000106633,ENST00000403799,CCDS5479.1,GCK,0.64,probably_damaging,0.968,deleterious,0,5.40717,34,P35557_G299R,G,R,299,GR,G299R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,H,A,0.91,-0.54,,,,0.00114308,0,0.0389814,0.547727
7417,P35557,K,X,291,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.08,,,,,,,,,467,967,ENSG00000106633,ENST00000403799,CCDS5479.1,GCK,0.63,,,,,10.186,43,P35557_K291X,K,X,291,KX,K291X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00184177,0,0.0628082,0.963541
7448,P08236,R,X,306,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.08,,,,,,,,,147,198,ENSG00000169919,ENST00000345660,,GUSB,0.51,,,,,5.66314,36,P08236_R306X,R,X,306,RX,R306X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00254516,0,0.0867953,0.959768
7467,P15502,C,Y,682,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,40478,35,ENSG00000049540,ENST00000429192,CCDS47611.1,ELN,0.99,,,tolerated,0.06,1.83635,12.1,P15502_C682Y,C,Y,682,CY,C682Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,,,,0.933113
7473,P16435,A,P,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,0,0,0,,,,,,112,246,ENSG00000127948,ENST00000394893,,POR,0.45,probably_damaging,0.991,deleterious,0,4.84585,27.6,P16435_A287P,A,P,287,AP,A287P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00242109,0,0.0825643,0.986212
7529,Q9UP52,G,R,333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,0,0,0,,,,,,12202,426,ENSG00000106327,ENST00000544242,,TFR2,0.97,probably_damaging,0.998,deleterious,0,4.99873,29.3,Q9UP52_G333R,G,R,333,GR,G333R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00047804,0,0.0163021,0.972859
7533,Q9UP52,A,T,444,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,2748,1711,ENSG00000106327,ENST00000462107,CCDS34707.1,TFR2,0.55,possibly_damaging,0.644,tolerated,0.36,3.32863,17.2,Q9UP52_A444T,A,T,444,AT,A444T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-2.22,-2.094,-0.126,,,,,,10.07,10.07,84.77,0.00144914,0,0.0494186,1.01981
7536,Q9UP52,R,X,105,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.08,,,,,,,,,669,1043,ENSG00000106327,ENST00000462107,CCDS34707.1,TFR2,0.13,,,,,6.77877,38,Q9UP52_R105X,R,X,105,RX,R105X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00109825,0,0.0374524,0.908362
7581,P13569,E,X,7,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.11,,,,,,,,,18,24196,ENSG00000001626,ENST00000426809,,CFTR,0,,,,,6.02036,37,P13569_E7X,E,X,7,EX,E7X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000659054,0.00135777,0.0224751,0.980139
7662,O43316,R,W,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,0,0,0,0.001,0.01,,,,677,2782,ENSG00000106331,ENST00000463946,,PAX4,0.35,probably_damaging,1,deleterious,0,4.03533,20.7,O43316_R119W,R,W,119,RW,R119W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
7717,O60393,S,T,342,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,1283,724,ENSG00000106410,ENST00000467773,,NOBOX,0.49,benign,0.097,tolerated,0.1,1.25917,10.11,O60393_S342T,S,T,342,ST,S342T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.858,-3.274,1.416,,,,,,3.056,,62.04,0.00211734,0,0.0722058,0.955846
7724,Q12809,N,I,861,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,6945,550,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.74,probably_damaging,0.993,deleterious,0.01,4.58903,25,Q12809_N861I,N,I,861,NI,N861I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.569,-3.876,2.307,,,,,,1.337,,58.07,0.000115801,0,0.00394904,0.848651
7734,Q12809,N,D,470,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,3237,3140,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.41,probably_damaging,0.971,deleterious,0,4.92506,28.5,Q12809_N470D,N,D,470,ND,N470D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.162,-2.796,1.634,,,,,,,,,0.000143959,0,0.00490929,0.926006
7751,Q15465,I,F,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,844,56,ENSG00000164690,ENST00000430104,,SHH,0.14,probably_damaging,0.91,deleterious,0,4.65831,25.6,Q15465_I24F,I,F,24,IF,I24F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,,,,,,,,,,,,0.000192244,0,0.00655593,1.00574
7755,Q15465,G,R,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,242,12046,ENSG00000164690,ENST00000297261,CCDS5942.1,SHH,0.07,,,deleterious,0,3.43257,17.61,Q15465_G31R,G,R,31,GR,G31R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,0.575,S,b,0.91,-0.45,,,,0.00218169,0.00696056,0.0744001,0.631646
7824,Q15822,I,N,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.15,,,,,,,,,3911,22,ENSG00000120903,ENST00000407991,CCDS6059.1,CHRNA2,0.53,probably_damaging,0.999,deleterious,0,4.41998,23.5,Q15822_I279N,I,N,279,IN,I279N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.212,-3.94,2.728,0.466,H,A,1.09,0.01,,,,0.000647134,0,0.0220686,0.768619
7842,P49675,R,L,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,2687,296,ENSG00000147465,ENST00000522050,,STAR,0.65,probably_damaging,1,deleterious,0,5.25776,33,P49675_R161L,R,L,161,RL,R161L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00572178,0,0.195124,0.933407
7843,P49675,R,H,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,2687,296,ENSG00000147465,ENST00000522050,,STAR,0.65,probably_damaging,1,deleterious,0,5.29621,34,P49675_R161H,R,H,161,RH,R161H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00572178,0,0.195124,0.952762
7970,Q9UHF7,R,X,844,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.08,,,,,,,,,32917,71954,ENSG00000104447,ENST00000520276,,TRPS1,0.66,,,,,7.158,38,Q9UHF7_R844X,R,X,844,RX,R844X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7984,O43525,N,S,701,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,0,0,0,,,,,,317844,274,ENSG00000184156,ENST00000521134,CCDS56554.1,KCNQ3,0.93,benign,0.002,tolerated,1,-1.93648,0.007,O43525_N701S,N,S,701,NS,N701S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00288109,0,0.0982511,0.967056
7994,P01266,C,R,1245,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,9038,115,ENSG00000042832,ENST00000220616,CCDS34944.1,TG,0.45,probably_damaging,0.96,deleterious,0,2.5591,14.52,P01266_C1245R,C,R,1245,CR,C1245R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,8.31e-05,0,0.00283444,0.790356
7998,P01266,R,H,2242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,241,28,ENSG00000042832,ENST00000220616,CCDS34944.1,TG,0.81,probably_damaging,1,deleterious,0,4.55374,24.6,P01266_R2242H,R,H,2242,RH,R2242H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.000217902,0,0.00743091,0.825058
8018,P19099,E,X,255,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.05,0,0,0,,,,,,3103,1766,ENSG00000179142,ENST00000323110,CCDS6393.1,CYP11B2,0.51,,,,,2.76714,15.21,P19099_E255X,E,X,255,EX,E255X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.0023172,0,0.0790213,0.961863
8181,O00358,R,C,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.17,,,,,,,,,964,2487,ENSG00000178919,ENST00000375123,CCDS35078.1,FOXE1,0.27,probably_damaging,0.928,deleterious,0,3.6769,18.68,O00358_R102C,R,C,102,RC,R102C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.000592316,0,0.0201992,0.776436
8226,P13716,A,T,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,12033,704,ENSG00000148218,ENST00000277315,,ALAD,0.82,probably_damaging,0.978,deleterious,0.01,5.24961,33,P13716_A257T,A,T,257,AT,A257T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00237687,0,0.0810562,0.977688
8232,Q13049,P,S,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,10787,131,ENSG00000119401,ENST00000411410,,TRIM32,0.75,benign,0.003,tolerated,0.52,0.243437,5.315,Q13049_P130S,P,S,130,PS,P130S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-2.185,-3.351,1.166,,,,,,4.62,,86.68,0.000777123,0,0.0265015,0.983839
8240,P06396,D,Y,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,653,1657,ENSG00000148180,ENST00000341272,CCDS6829.1,GSN,0.22,probably_damaging,1,deleterious,0,4.25227,22.2,P06396_D163Y,D,Y,163,DY,D163Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.00127979,0,0.0436434,0.891863
8241,Q13285,L,Q,437,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,18153,106,ENSG00000136931,ENST00000373588,CCDS6856.1,NR5A1,0.95,probably_damaging,0.979,deleterious,0,4.78762,27,Q13285_L437Q,L,Q,437,LQ,L437Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.117,-3.901,2.784,0.146,H,A,1.19,-1.08,,,,0.00816973,0,0.278605,0.535561
8256,P61764,C,Y,180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,2150,409,ENSG00000136854,ENST00000373302,CCDS6874.1,STXBP1,0.3,probably_damaging,0.999,deleterious,0,4.87049,27.9,P61764_C180Y,C,Y,180,CY,C180Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.6,-3.844,2.244,,,,,,,,,0.000955177,0,0.0325735,0.734067
8259,P61764,G,D,544,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,3965,2178,ENSG00000136854,ENST00000373302,CCDS6874.1,STXBP1,0.9,probably_damaging,1,deleterious,0,5.3828,34,P61764_G544D,G,D,544,GD,G544D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.008,-3.15,2.142,,,,,,,,,0.00333779,0,0.113825,0.810792
8264,P00568,R,W,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,1041,9,ENSG00000106992,ENST00000373156,CCDS6881.1,AK1,0.66,probably_damaging,1,deleterious,0,3.73664,18.97,P00568_R128W,R,W,128,RW,R128W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.333,H,A,1.67,-0.32,,,,0.00247725,0,0.0844795,0.634266
8268,Q6P1M0,A,T,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,4539,15951,ENSG00000167114,ENST00000300456,CCDS6899.1,SLC27A4,0.14,probably_damaging,0.99,deleterious,0,4.94611,28.7,Q6P1M0_A92T,A,T,92,AT,A92T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.242,-1.989,0.747,,,,,,19.734,19.734,80.25,0.00202271,0,0.0689786,0.989437
8270,Q6P1M0,S,P,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,9607,10883,ENSG00000167114,ENST00000300456,CCDS6899.1,SLC27A4,0.38,probably_damaging,1,deleterious,0,3.89445,19.8,Q6P1M0_S247P,S,P,247,SP,S247P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.239,-3.432,2.193,,,,,,,,,0.000412883,0,0.0140801,0.836978
8271,Q6P1M0,Q,R,300,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,0,0,0,,,,,,11931,8559,ENSG00000167114,ENST00000300456,CCDS6899.1,SLC27A4,0.47,possibly_damaging,0.445,deleterious,0,4.42195,23.5,Q6P1M0_Q300R,Q,R,300,QR,Q300R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.358,-3.035,1.677,,,,,,,,,0.00200087,0,0.0682336,0.89812
8280,P00966,S,L,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,58,19233,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.04,probably_damaging,0.996,deleterious,0,5.03641,29.8,P00966_S18L,S,L,18,SL,S18L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.348,-3.094,1.746,,H,A,0.82,0.1,,,,0.000546369,0,0.0186323,0.76759
8285,P00966,R,X,279,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.08,0,0,0,,,,,,590,548,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.68,,,,,9.22793,42,P00966_R279X,R,X,279,RX,R279X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000782415,0,0.026682,0.977351
8290,P00966,R,W,363,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,15127,6196,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.88,benign,0.294,deleterious,0.04,3.03998,16.14,P00966_R363W,R,W,363,RW,R363W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.41,E,B,1.67,-1.33,,,,0.00214386,0,0.0731101,0.540895
8292,P00519,Y,H,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,27904,22714,ENSG00000097007,ENST00000318560,CCDS35166.1,ABL1,0.22,probably_damaging,1,deleterious,0,5.26771,33,P00519_Y253H,Y,H,253,YH,Y253H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.181,-3.557,2.376,0.215,T,A,0.38,-0.7,,,,0.000285233,0,0.00972702,0.67379
8293,P00519,E,K,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,27910,22708,ENSG00000097007,ENST00000318560,CCDS35166.1,ABL1,0.23,probably_damaging,0.992,deleterious,0,6.16315,37,P00519_E255K,E,K,255,EK,E255K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,0.262,S,b,1.3,0.14,,,,0.000386743,0,0.0131887,0.839378
8294,P00519,E,V,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.13,,,,,,,,,27911,22707,ENSG00000097007,ENST00000318560,CCDS35166.1,ABL1,0.23,possibly_damaging,0.875,deleterious,0.01,5.60086,36,P00519_E255V,E,V,255,EV,E255V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,-1.158,-3.306,2.148,0.262,S,b,1.48,0.14,,,,0.000386743,0,0.0131887,0.749392
8296,P00519,T,I,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,37830,12788,ENSG00000097007,ENST00000318560,CCDS35166.1,ABL1,0.28,probably_damaging,0.987,deleterious,0,5.41863,35,P00519_T315I,T,I,315,TI,T315I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.149,-3.337,2.188,0.122,E,B,0.7,-0.78,,,,0.000206113,0,0.00702888,0.606325
8297,P00519,M,T,351,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,37938,12680,ENSG00000097007,ENST00000318560,CCDS35166.1,ABL1,0.31,probably_damaging,1,deleterious,0,4.62373,25.3,P00519_M351T,M,T,351,MT,M351T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.541,-3.198,1.657,,H,A,0.77,-0.9,,,,0.000108341,0,0.00369464,0.725674
8305,Q9Y6A1,A,T,495,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,0,0,0,,,,,,70,374,ENSG00000130714,ENST00000419118,,POMT1,0.86,possibly_damaging,0.786,deleterious,0,5.17447,32,Q9Y6A1_A495T,A,T,495,AT,A495T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,,,,0.956543
8322,P20908,R,X,792,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.07,,,,,,,,,133127,69940,ENSG00000130635,ENST00000371817,CCDS6982.1,COL5A1,0.43,,,,,11.2718,44,P20908_R792X,R,X,792,RX,R792X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,3.87e-05,0,0.00132068,0.984992
8381,O15344,E,X,115,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.12,,,,,,,,,9751,250,ENSG00000101871,ENST00000413894,,MID1,0.24,,,,,6.34917,37,O15344_E115X,E,X,115,EX,E115X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000699533,0,0.0238555,0.980139
8838,Q00604,C,X,128,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.09,,,,,,,,,85,135,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.96,,,,,5.64894,36,Q00604_C128X,C,X,128,CX,C128X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.0121499,0,0.414337,0.918547
8842,Q00604,C,G,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,,,,,,,,,141,191,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.83,possibly_damaging,0.87,deleterious,0,4.43706,23.6,Q00604_C110G,C,G,110,CG,C110G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.412,-3.319,1.907,,,,,,,,,0.0137257,0,0.468075,0.830568
8850,Q00604,C,S,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,263,313,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.52,benign,0.016,deleterious,0.02,2.85313,15.5,Q00604_C69S,C,S,69,CS,C69S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.412,-3.121,1.709,,,,,,,,,0.00645212,0,0.22003,0.832904
8873,Q9H237,R,X,124,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.04,,,,,,,,,2148,481,ENSG00000102312,ENST00000359882,CCDS14298.1,PORCN,0.27,,,,,5.8808,36,Q9H237_R124X,R,X,124,RX,R124X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8886,P42768,P,R,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.04,,,,,,,,,495,2549,ENSG00000015285,ENST00000450772,,WAS,0.27,probably_damaging,0.996,tolerated,0.09,3.45214,17.69,P42768_P58R,P,R,58,PR,P58R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.4,-3.654,2.254,,,,,,2.084,,44.02,0.00170931,0,0.058291,0.816082
8887,P42768,S,P,82,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,566,2478,ENSG00000015285,ENST00000450772,,WAS,0.38,probably_damaging,1,deleterious,0,3.57251,18.21,P42768_S82P,S,P,82,SP,S82P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.146,-3.472,2.326,,E,b,0.25,0,,,,0.000866681,0,0.0295556,0.693152
8920,O95972,R,W,68,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.09,0.001,0,0.002,0.001,,,,0.002,201,5623,ENSG00000130385,ENST00000252677,CCDS14334.1,BMP15,0.17,probably_damaging,0.929,deleterious,0,1.75676,11.83,O95972_R68W,R,W,68,RW,R68W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.704,-2.823,1.119,,,,,,25.714,25.714,93.88,,,,0.929811
8952,P22557,I,N,463,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,5677,5644,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.81,probably_damaging,0.998,deleterious,0,4.05115,20.8,P22557_I463N,I,N,463,IN,I463N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,,,,,,,,,,,,0.00228665,0,0.0779796,0.960124
9053,P08034,V,M,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.05,,,,,,,,,784,30,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.34,probably_damaging,0.998,deleterious,0,3.16026,16.57,P08034_V95M,V,M,95,VM,V95M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.113,-3.847,2.734,0.133,H,a,0.11,0.46,,,,0.00150915,0,0.0514651,0.714854
9059,P08034,E,K,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.12,,,,,,,,,1057,303,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.66,probably_damaging,1,deleterious,0,3.0063,16.03,P08034_E186K,E,K,186,EK,E186K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.305,-1.949,0.644,,H,A,1.3,-1.12,23.399,23.399,84.45,0.000898812,0,0.0306513,0.759245
9201,P06280,P,S,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.07,,,,,,,,,11,4380,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.09,probably_damaging,0.998,deleterious,0,4.68956,25.9,P06280_P40S,P,S,40,PS,P40S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.066,-3.33,2.264,0.015,.,B,0.25,-1.23,1.722,,70.16,0.000952143,0.00257069,0.03247,0.59594
9245,P29400,G,X,5,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.11,,,,,,,,,196,2954,ENSG00000188153,ENST00000361603,CCDS14543.1,COL4A5,0,,,,,7.39359,39,P29400_G5X,G,X,5,GX,G5X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.00023635,0,0.00806002,0.968579
9302,P29400,G,R,415,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.01,,,,,,,,,8643,36135,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.25,,,deleterious,0,4.01789,20.6,P29400_G415R,G,R,415,GR,G415R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.063,-3.703,2.64,,,,,,2.924,,92.46,2.45e-05,0,0.000836072,0.856469
9567,O60481,T,M,323,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,1141,3927,ENSG00000156925,ENST00000287538,CCDS14663.1,ZIC3,0.69,probably_damaging,0.998,deleterious,0,4.01971,20.6,O60481_T323M,T,M,323,TM,T323M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.245,-4.215,2.97,0.266,H,a,0.77,0,,,,0.0015309,0,0.052207,0.723024
9685,P33897,R,G,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,851,569,ENSG00000101986,ENST00000443684,,ABCD1,0.26,probably_damaging,0.997,tolerated,0.24,2.86687,15.55,P33897_R57G,R,G,57,RG,R57G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.000543118,0,0.0185214,0.953424
9698,P32004,G,R,454,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.08,,,,,,,,,243,459,ENSG00000198910,ENST00000538883,,L1CAM,0.36,probably_damaging,1,deleterious,0,3.89914,19.82,P32004_G454R,G,R,454,GR,G454R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,7.32e-05,0,0.00249517,0.9805
9702,P32004,I,S,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,4900,181,ENSG00000198910,ENST00000538883,,L1CAM,0.14,probably_damaging,1,deleterious,0,3.37409,17.38,P32004_I181S,I,S,181,IS,I181S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,,,,,,,,,,,,0.000213733,0,0.00728873,0.960395
9723,P51608,P,S,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.11,,,,,,,,,26907,150,ENSG00000169057,ENST00000303391,CCDS14741.1,MECP2,0.66,possibly_damaging,0.681,deleterious,0.04,2.84417,15.47,P51608_P322S,P,S,322,PS,P322S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.954,-2.21,0.256,,,,,,8.824,8.824,49.79,0.00140216,0,0.0478166,1.00534
9756,Q16635,C,R,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.6,0.03,,,,,,,,,20,19,ENSG00000102125,ENST00000475699,,TAZ,0.45,probably_damaging,0.986,deleterious,0,4.3697,23.1,Q16635_C118R,C,R,118,CR,C118R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,,,,,,,,,0.00565639,0,0.192894,0.737889
9767,#N/A,E,X,391,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.6,0.01,,,,,,,,,1974,389,ENSG00000073009,ENST00000369606,CCDS14757.1,IKBKG,0.93,,,,,7.96626,40,#N/A_E391X,E,X,391,EX,E391X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
43,Q9H251,A,T,1225,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.13,0.024,0.005,0.033,0.01,0.002,0.04,,0.02,7272,11484,ENSG00000107736,ENST00000224721,,CDH23,0.36,probably_damaging,0.957,tolerated,0.07,3.26482,16.96,Q9H251_A1225T,A,T,1225,AT,A1225T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,,,,0.956543
44,Q9H251,E,K,2047,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.08,0.265,0.27,0.263,0.35,0.52,0.3,0.29,0.27,394275,24685,ENSG00000107736,ENST00000224721,,CDH23,0.61,possibly_damaging,0.575,tolerated,0.25,4.13061,21.3,Q9H251_E2047K,E,K,2047,EK,E2047K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
152,Q13402,V,I,679,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.13,0.019,0.058,0,0.02,,0.01,0.07,,2026,10141,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.58,benign,0.234,tolerated,0.19,3.37149,17.37,Q13402_V679I,V,I,679,VI,V679I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-2.697,-4.08,1.383,,,,,,6.5,,80.05,,,,0.925142
172,P54098,E,G,1143,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.11,0.028,0.005,0.039,0.02,,0.01,0.002,0.04,767,674,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.92,benign,0.202,tolerated,0.06,2.9187,15.73,P54098_E1143G,E,G,1143,EG,E1143G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.842,-2.832,0.99,,,,,,35.472,35.472,85.63,0.0014082,0,0.0556911,0.950962
174,P54098,P,S,324,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.04,0.001,0,0.001,,,,,,298,1983,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.26,benign,0,tolerated,0.73,-0.031977,3.85,P54098_P324S,P,S,324,PS,P324S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-2.875,-2.87,-0.005,,,,,,8.822,8.822,87.97,0.000556893,0,0.0220239,1.02016
210,P32238,V,I,365,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.11,0.007,0.019,0,0.01,,,0.02,,8631,432,ENSG00000163394,ENST00000295589,CCDS3438.1,CCKAR,0.85,possibly_damaging,0.845,deleterious,0.04,4.89183,28.1,P32238_V365I,V,I,365,VI,V365I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.596,-2.158,0.562,,,,,,8.818,8.818,77.1,0.001861,0,0.0735986,1.01509
268,P21817,T,N,4915,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.16,,,,,,,,,151355,2510,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.98,,,,,3.23845,16.86,P21817_T4915N,T,N,4915,TN,T4915N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,,,,,,,,,,,,,,,0.955431
282,P16473,D,H,36,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.11,0.006,0.003,0.008,0.002,,,,0.01,131,152,ENSG00000165409,ENST00000342443,CCDS32131.1,TSHR,0.14,probably_damaging,0.988,tolerated,0.12,3.16424,16.58,P16473_D36H,D,H,36,DH,D36H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-2.152,-3.063,0.911,0.104,T,L,0.58,-0.57,30.584,30.584,86.39,0.00124442,0.00274725,0.049214,0.775097
286,P13716,K,N,68,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.07,0.06,0.015,0.083,0.05,0.05,0.06,0.002,0.07,945,522,ENSG00000148218,ENST00000448137,,ALAD,0.56,benign,0.001,tolerated,1,-0.373809,2.241,P13716_K68N,K,N,68,KN,K68N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,,,,,,,,,,,,0.004938,0,0.195287,0.944801
305,P07099,H,R,139,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.08,0.25,0.337,0.205,0.18,0.11,0.14,0.34,0.17,13351,8,ENSG00000143819,ENST00000366837,CCDS1547.1,EPHX1,0.31,benign,0.001,tolerated,0.99,-1.91853,0.008,P07099_H139R,H,R,139,HR,H139R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-3.111,-2.545,-0.566,,,,,,30.321,30.321,50.99,0.00329435,0,0.130284,1.03441
349,P00751,R,W,534,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.04,0.177,0.319,0.098,0.17,0.07,0.15,0.34,0.14,180,719,ENSG00000243649,ENST00000556679,,CFB,0.42,possibly_damaging,0.685,deleterious,0.03,2.91665,15.72,P00751_R534W,R,W,534,RW,R534W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00108927,0,0.0430783,0.918174
359,O95255,H,Q,632,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.61,0.07,0.453,0.358,0.502,0.36,0.17,0.45,0.32,0.49,38429,3301,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.42,benign,0.001,tolerated,0.36,1.08967,9.447,O95255_H632Q,H,Q,632,HQ,H632Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-2.823,-2.915,0.092,,,,,,18.176,18.176,90.69,0.000604692,0,0.0239143,1.02578
57,P42898,R,Q,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,2080,40,ENSG00000177000,ENST00000376585,,MTHFR,0.28,probably_damaging,0.934,deleterious,0,5.79092,36,P42898_R198Q,R,Q,198,RQ,R198Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000721775,0,0.024614,0.995654
92,Q9BXM7,R,H,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,960,1892,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.48,possibly_damaging,0.614,tolerated,0.3,4.36947,23.1,Q9BXM7_R279H,R,H,279,RH,R279H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.00148622,0,0.0506831,0.739963
142,Q9NZV5,G,E,273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,8903,9126,ENSG00000162430,ENST00000361547,CCDS41282.1,SEPN1,0.46,benign,0.05,tolerated,0.11,3.63959,18.51,Q9NZV5_G273E,G,E,273,GE,G273E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,0.00067718,0,0.0230932,0.806888
143,Q9NZV5,W,S,453,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,35,3228,ENSG00000162430,ENST00000361547,CCDS41282.1,SEPN1,0.77,probably_damaging,0.996,deleterious,0,4.49779,24.1,Q9NZV5_W453S,W,S,453,WS,W453S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.198,-3.613,2.415,,,,,,,,,0.00295512,0,0.100776,0.739654
303,Q99684,N,S,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,7802,1389,ENSG00000162676,ENST00000370332,CCDS30773.1,GFI1,0.91,probably_damaging,0.975,deleterious,0.03,3.89038,19.78,Q99684_N382S,N,S,382,NS,N382S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.483,-2.94,1.457,,,,,,4.027,,43.6,0.00550804,0,0.187836,0.917033
379,P48165,V,E,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.17,,,,,,,,,130,1172,ENSG00000121634,ENST00000240986,CCDS30834.1,GJA8,0.1,probably_damaging,0.993,deleterious,0,4.40974,23.4,P48165_V44E,V,E,44,VE,V44E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.113,-3.482,2.369,,,,,,,,,0.00102613,0,0.034993,0.748462
431,P02545,V,M,359,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,81,894,ENSG00000160789,ENST00000392353,,LMNA,0.73,probably_damaging,0.992,deleterious,0,4.05004,20.8,P02545_V359M,V,M,359,VM,V359M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.000616893,0,0.0210373,1.00472
432,P02545,R,W,372,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,120,855,ENSG00000160789,ENST00000392353,,LMNA,0.76,probably_damaging,0.993,deleterious,0,4.5906,25,P02545_R372W,R,W,372,RW,R372W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000436997,0,0.0149025,0.987856
476,P50993,T,M,376,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,1089,8442,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.37,probably_damaging,1,deleterious,0,4.83253,27.5,P50993_T376M,T,M,376,TM,T376M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.391,-4.162,2.771,0.007,I,B,0.77,-0.82,,,,0.000197629,0,0.00673954,0.594281
477,P50993,T,N,378,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,1095,8436,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.37,probably_damaging,1,deleterious,0,4.99368,29.3,P50993_T378N,T,N,378,TN,T378N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,-1.391,-3.13,1.739,,I,a,0.39,-0.86,,,,0.000187596,0,0.00639742,0.767947
488,P50336,R,W,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,347,842,ENSG00000143224,ENST00000367999,CCDS1221.1,PPOX,0.12,probably_damaging,1,deleterious,0,4.4548,23.8,P50336_R59W,R,W,59,RW,R59W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,0.081,.,a,1.67,-0.73,,,,0.00169618,0,0.0578431,0.493052
682,P45379,R,C,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,0,0,0.001,,,,,,4106,1,ENSG00000118194,ENST00000367318,CCDS30969.1,TNNT2,0.97,probably_damaging,0.943,deleterious,0.05,3.03955,16.14,P45379_R278C,R,C,278,RC,R278C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.0255171,0.1,0.870187,0.900822
811,Q96CV9,E,K,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,9045,393,ENSG00000123240,ENST00000378748,CCDS7094.1,OPTN,0.09,probably_damaging,1,deleterious,0,4.32452,22.7,Q96CV9_E50K,E,K,50,EK,E50K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,0.000688896,0,0.0234928,0.909675
844,P07949,V,I,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,0,0,0,,,,,,37463,52,ENSG00000165731,ENST00000498820,,RET,0.91,benign,0.008,tolerated,0.73,-0.068005,3.669,P07949_V165I,V,I,165,VI,V165I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,0.000330829,0,0.011282,1.00304
888,P14222,T,M,435,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,0,0,0,,,,,,665,1068,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.78,probably_damaging,0.992,deleterious,0,2.23632,13.43,P14222_T435M,T,M,435,TM,T435M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.158,-2.835,1.677,,.,B,0.77,-1.06,9.485,9.485,78.02,0.00349379,0,0.119146,0.696503
904,Q9BZD2,G,R,437,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,10801,31,ENSG00000198246,ENST00000373189,CCDS7310.1,SLC29A3,0.92,probably_damaging,1,deleterious,0,4.0064,20.5,Q9BZD2_G437R,G,R,437,GR,G437R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.915,-3.783,2.868,,,,,,0.692,,21.89,0.00611133,0,0.208409,0.800484
949,O75112,A,V,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,18526,12824,ENSG00000122367,ENST00000372056,CCDS53549.1,LDB3,0.7,probably_damaging,0.926,tolerated,0.24,4.65758,25.6,O75112_A280V,A,V,280,AV,A280V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.000308522,0,0.0105212,0.992904
1001,P02753,I,N,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.15,,,,,,,,,10,6837,ENSG00000138207,ENST00000371464,CCDS31249.1,RBP4,0.29,probably_damaging,0.998,deleterious,0,4.4121,23.4,P02753_I59N,I,N,59,IN,I59N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.345,-4.016,2.671,0.045,.,b,1.09,-0.62,1.312,,79.6,,,,0.63554
1044,P05093,F,S,453,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,833,53,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.89,probably_damaging,0.999,deleterious,0,4.99841,29.3,P05093_F453S,F,S,453,FS,F453S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.035,-3.486,2.451,,,,,,,,,0.00231546,0,0.0789621,0.759525
1049,P05093,R,Q,358,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,145,899,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.7,possibly_damaging,0.642,deleterious,0.04,5.11427,32,P05093_R358Q,R,Q,358,RQ,R358Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.24,-3.439,2.199,,,,,,1.569,,47.44,0.00191475,0,0.0652969,0.865968
1062,P05093,W,X,17,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.03,,,,,,,,,104,701,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.03,,,,,6.07396,37,P05093_W17X,W,X,17,WX,W17X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000288072,0,0.00982385,0.956807
1069,P50539,A,V,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,597,51749,ENSG00000119950,ENST00000453116,,MXI1,0.54,benign,0.394,tolerated,0.09,3.85271,19.57,P50539_A121V,A,V,121,AV,A121V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,,,,0.954618
1187,P51787,A,T,300,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,111527,57,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.44,probably_damaging,1,deleterious,0,4.23377,22,P51787_A300T,A,T,300,AT,A300T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.355,-3.077,1.722,,,,,,1.128,,32.69,0.0001651,0,0.00563026,0.932439
1194,P51787,T,M,587,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.16,,,,,,,,,428,70236,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.87,probably_damaging,0.984,deleterious,0.02,2.56825,14.55,P51787_T587M,T,M,587,TM,T587M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.605,-4.291,2.686,,,,,,1.345,,89.94,0.00370018,0,0.126184,0.869226
1247,P17405,G,S,578,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,928,73,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.92,possibly_damaging,0.459,tolerated,0.08,4.93952,28.7,P17405_G578S,G,S,578,GS,G578S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00510721,0,0.174166,0.955148
1251,O14773,N,S,43,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,522,5,ENSG00000166340,ENST00000533371,,TPP1,0.13,possibly_damaging,0.756,tolerated,0.08,3.98572,20.4,O14773_N43S,N,S,43,NS,N43S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.0039441,0,0.134502,0.967056
1252,O14773,G,V,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,516,2,ENSG00000166340,ENST00000533371,,TPP1,0.13,probably_damaging,0.998,deleterious,0,4.06713,20.9,O14773_G41V,G,V,41,GV,G41V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00308837,0,0.10532,0.945923
1266,Q14654,E,K,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,378,243,ENSG00000187486,ENST00000528731,CCDS53606.1,KCNJ11,0.78,probably_damaging,0.995,tolerated,0.05,4.60581,25.1,Q14654_E235K,E,K,235,EK,E235K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.000787835,0,0.0268668,0.990526
1278,Q14654,G,D,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,726,291,ENSG00000187486,ENST00000528992,,KCNJ11,0.38,probably_damaging,1,tolerated,0.17,3.58461,18.26,Q14654_G59D,G,D,59,GD,G59D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00227686,0,0.0776457,0.961241
1279,Q14654,Q,R,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,723,294,ENSG00000187486,ENST00000528992,,KCNJ11,0.37,probably_damaging,0.998,tolerated,0.98,1.09944,9.486,Q14654_Q58R,Q,R,58,QR,Q58R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,0.000580725,0,0.0198039,0.996313
1320,Q9NPI8,Q,X,6,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.16,,,,,,,,,47,29,ENSG00000183161,ENST00000327470,CCDS7857.1,FANCF,0.02,,,,,2.5345,14.43,Q9NPI8_Q6X,Q,X,6,QX,Q6X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1382,Q9H161,Q,X,246,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.07,,,,,,,,,34778,14945,ENSG00000052850,ENST00000329255,CCDS31468.1,ALX4,0.6,,,,,4.01225,20.6,Q9H161_Q246X,Q,X,246,QX,Q246X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00274149,0,0.0934904,0.955443
1383,Q9H161,R,Q,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,34695,15028,ENSG00000052850,ENST00000329255,CCDS31468.1,ALX4,0.53,benign,0.326,deleterious,0.01,4.09985,21.1,Q9H161_R218Q,R,Q,218,RQ,R218Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,,,,,,,,,0.00110086,0,0.0375415,0.841963
1397,P00734,R,H,431,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,8926,11344,ENSG00000180210,ENST00000530231,,F2,0.74,probably_damaging,0.998,deleterious,0,4.70588,26.1,P00734_R431H,R,H,431,RH,R431H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.212,-4.174,2.962,0.171,S,A,1.03,0.7,0.857,,41.96,0.00133216,0,0.0454293,0.685215
1403,Q92466,D,Y,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,20366,3909,ENSG00000134574,ENST00000378603,,DDB2,0.67,probably_damaging,1,tolerated,0.1,4.91354,28.4,Q92466_D243Y,D,Y,243,DY,D243Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,,,,0.931909
1404,Q92466,R,X,249,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.09,,,,,,,,,20384,3891,ENSG00000134574,ENST00000378603,,DDB2,0.69,,,,,6.19674,37,Q92466_R249X,R,X,249,RX,R249X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1424,P05155,V,E,454,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,3208,91,ENSG00000149131,ENST00000278407,CCDS7962.1,SERPING1,0.91,probably_damaging,1,deleterious,0,4.21016,21.9,P05155_V454E,V,E,454,VE,V454E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.039,-3.521,2.482,0.017,E,B,1.48,-0.28,,,,0.004084,0,0.139273,0.539544
1454,Q86UX7,R,X,573,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.13,,,,,,,,,1541,27,ENSG00000149781,ENST00000345728,CCDS8059.1,FERMT3,0.86,,,,,6.67644,38,Q86UX7_R573X,R,X,573,RX,R573X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1494,O95967,E,K,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,553,434,ENSG00000172638,ENST00000307998,CCDS8116.1,EFEMP2,0.28,possibly_damaging,0.876,deleterious,0,6.16142,37,O95967_E126K,E,K,126,EK,E126K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.954,-3.384,2.43,,,,,,5.071,,89.16,0.00132607,0,0.0452217,0.874011
1525,Q13488,G,R,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,6,319,ENSG00000110719,ENST00000532635,CCDS53670.1,TCIRG1,0.31,probably_damaging,0.999,deleterious,0,4.44372,23.7,Q13488_G189R,G,R,189,GR,G189R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00132255,0,0.0451016,0.897226
1526,Q13488,R,L,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,198,127,ENSG00000110719,ENST00000532635,CCDS53670.1,TCIRG1,0.37,probably_damaging,1,deleterious,0,4.88478,28,Q13488_R228L,R,L,228,RL,R228L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.000542869,0,0.0185129,0.980977
1543,O75197,R,W,570,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,372,2942,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.35,probably_damaging,0.909,deleterious,0,3.51745,17.97,O75197_R570W,R,W,570,RW,R570W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.000197314,0,0.00672881,0.810166
1576,P50416,R,C,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,7951,15,ENSG00000110090,ENST00000265641,CCDS8185.1,CPT1A,0.16,probably_damaging,1,deleterious,0.01,4.51652,24.3,P50416_R123C,R,C,123,RC,R123C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.447,-2.341,0.894,,,,,,37.138,37.138,76.84,0.00104107,0,0.0355026,0.940141
1634,Q13402,C,X,628,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.08,,,,,,,,,5,12162,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.53,,,,,10.4296,43,Q13402_C628X,C,X,628,CX,C628X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
1854,Q96MS0,G,X,434,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.04,,,,,,,,,4451,8548,ENSG00000154134,ENST00000538940,,ROBO3,0.32,,,,,8.62255,41,Q96MS0_G434X,G,X,434,GX,G434X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.000391997,0,0.0133679,0.968579
1855,Q96MS0,R,P,681,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.01,,,,,,,,,977,6322,ENSG00000154134,ENST00000538940,,ROBO3,0.5,probably_damaging,0.998,deleterious,0,3.37515,17.38,Q96MS0_R681P,R,P,681,RP,R681P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.000180731,0,0.0061633,0.962088
1859,Q8IZU9,V,F,719,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,15833,421,ENSG00000149571,ENST00000529097,,KIRREL3,0.94,benign,0.258,tolerated,0.5,1.45172,10.8,Q8IZU9_V719F,V,F,719,VF,V719F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,0.00272418,0,0.0929001,0.955386
1907,P04275,R,X,2535,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.07,0,0,0,,,,,,155339,20463,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.9,,,,,16.7627,50,P04275_R2535X,R,X,2535,RX,R2535X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000447756,0,0.0152694,0.977351
1908,P04275,C,F,2362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,142688,33114,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.84,possibly_damaging,0.49,deleterious,0,4.02003,20.6,P04275_C2362F,C,F,2362,CF,C2362F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.074,-4.075,3.001,,,,,,0.29,,5.62,0.000268922,0,0.00917078,0.767406
1911,P04275,V,D,1607,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,3329,931,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.57,probably_damaging,1,deleterious,0,4.15006,21.4,P04275_V1607D,V,D,1607,VD,V1607D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.262,-3.964,2.702,,E,B,1.19,-0.66,1.903,,86.06,8.05e-05,0,0.00274467,0.64292
1921,P04275,C,R,1149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,907,3305,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.41,probably_damaging,0.999,deleterious,0,3.10657,16.38,P04275_C1149R,C,R,1149,CR,C1149R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-0.86,-4.237,3.377,,,,,,0.092,,4.23,5.91e-05,0,0.0020154,0.757303
1924,P04275,Y,C,795,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,80327,50469,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.28,probably_damaging,1,deleterious,0.01,3.33141,17.21,P04275_Y795C,Y,C,795,YC,Y795C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.89,-5.047,3.157,,,,,,0.884,,15.04,8.6e-05,0,0.00293179,0.775908
1931,P19438,C,S,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,322,27,ENSG00000067182,ENST00000366159,,TNFRSF1A,0.45,probably_damaging,1,deleterious,0,3.12343,16.44,P19438_C99S,C,S,99,CS,C99S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.111,-3.241,2.13,0.2,.,B,0.73,-0.38,,,,0.000280403,0,0.00956233,0.682685
1951,P50542,R,X,448,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.07,,,,,,,,,18193,43,ENSG00000139197,ENST00000412720,,PEX5,0.68,,,,,5.82464,36,P50542_R448X,R,X,448,RX,R448X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1958,Q9GZX7,W,X,68,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.13,,,,,,,,,1578,1154,ENSG00000111732,ENST00000537228,,AICDA,0.36,,,,,5.8099,36,Q9GZX7_W68X,W,X,68,WX,W68X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00683124,0,0.232959,0.893203
2037,P02458,R,C,565,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.03,,,,,,,,,2897,12168,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.38,probably_damaging,0.977,deleterious,0.01,4.29607,22.5,P02458_R565C,R,C,565,RC,R565C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.723,-4.972,2.249,,,,,,0.246,,6.25,0.000366041,0,0.0124828,0.774891
2088,P37023,W,S,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,470,3138,ENSG00000139567,ENST00000550683,,ACVRL1,0.8,probably_damaging,0.975,deleterious,0,4.64474,25.5,P37023_W413S,W,S,413,WS,W413S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,,,,,,,,,,,,,,,0.890533
2089,P37023,R,W,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,505,3103,ENSG00000139567,ENST00000550683,,ACVRL1,0.82,probably_damaging,1,deleterious,0,3.64445,18.53,P37023_R425W,R,W,425,RW,R425W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
2090,P37023,R,Q,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,506,3102,ENSG00000139567,ENST00000550683,,ACVRL1,0.82,probably_damaging,0.998,deleterious,0,5.16522,32,P37023_R425Q,R,Q,425,RQ,R425Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
2091,P37023,R,P,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,506,3102,ENSG00000139567,ENST00000550683,,ACVRL1,0.82,probably_damaging,1,deleterious,0,4.47671,24,P37023_R425P,R,P,425,RP,R425P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,,,,0.914096
2094,O43790,E,K,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,2102,347,ENSG00000170442,ENST00000293525,CCDS41785.1,AC021066.1,0.85,probably_damaging,0.981,deleterious,0.01,5.3061,34,O43790_E413K,E,K,413,EK,E413K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,0.00137639,0,0.0469379,0.828737
2095,O43790,E,D,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,2100,345,ENSG00000170442,ENST00000293525,CCDS41785.1,AC021066.1,0.85,probably_damaging,0.977,deleterious,0,3.73619,18.97,O43790_E413D,E,D,413,ED,E413D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.075,-2.611,1.536,,,,,,,,,0.00137639,0,0.0469379,0.838333
2318,P20823,T,I,627,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,22406,115,ENSG00000135100,ENST00000544413,,HNF1A,0.98,possibly_damaging,0.574,deleterious,0.01,3.88051,19.72,P20823_T627I,T,I,627,TI,T627I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,0.0181621,0,0.619366,0.952663
2340,P29033,H,R,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,417,1892,ENSG00000165474,ENST00000382844,CCDS9290.1,GJB2,0.32,probably_damaging,1,deleterious,0.01,4.70649,26.1,P29033_H73R,H,R,73,HR,H73R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.308,-3.694,2.386,0.029,H,A,1.03,-1.12,3.981,,54.42,0.00420507,0,0.143402,0.579633
2364,Q13326,C,Y,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,143507,29,ENSG00000102683,ENST00000537476,CCDS9299.1,SGCG,0.97,probably_damaging,0.999,deleterious,0,3.84286,19.52,Q13326_C283Y,C,Y,283,CY,C283Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.293,-3.939,2.646,,,,,,,,,0.0194313,0,0.662646,0.762124
2524,P12883,R,Q,719,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,9749,13232,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.37,benign,0.388,deleterious,0,4.02934,20.7,P12883_R719Q,R,Q,719,RQ,R719Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.715,-3.26,1.545,,,,,,4.582,,86.05,0.000116576,0,0.00397549,0.979662
2541,P12883,A,T,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,4069,18912,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.12,possibly_damaging,0.72,deleterious,0,4.2208,21.9,P12883_A223T,A,T,223,AT,A223T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.466,-3.057,1.591,0.01,H,A,0.22,0,3.243,,86.05,0.000114228,0,0.00389543,0.887283
2587,P43699,V,F,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.15,,,,,,,,,1741,564,ENSG00000136352,ENST00000354822,CCDS41945.1,NKX2-1,0.59,probably_damaging,0.989,deleterious,0,3.83078,19.45,P43699_V235F,V,F,235,VF,V235F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,,,,0.951705
2643,O95475,T,A,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.15,,,,,,,,,940,2960,ENSG00000184302,ENST00000327720,CCDS9747.1,SIX6,0.67,possibly_damaging,0.86,deleterious,0.01,4.80791,27.2,O95475_T165A,T,A,165,TA,T165A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.391,-2.534,1.143,,,,,,,,,,,,0.879707
2648,P11277,A,P,2053,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,0,0,0,,,,,,489,401,ENSG00000070182,ENST00000389721,CCDS32100.1,SPTB,0.96,probably_damaging,0.941,deleterious,0,4.77768,26.9,P11277_A2053P,A,P,2053,AP,A2053P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.088,-3.432,2.344,0.641,H,A,0.52,-0.95,,,,0.00104538,0,0.0356495,0.659436
2649,P11277,L,R,2025,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,406,484,ENSG00000070182,ENST00000389721,CCDS32100.1,SPTB,0.95,probably_damaging,0.997,deleterious,0,4.49612,24.1,P11277_L2025R,L,R,2025,LR,L2025R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.117,-3.71,2.593,0.029,H,A,1.75,-0.67,,,,0.00214239,0,0.07306,0.558558
2710,O95718,A,V,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,40,23746,ENSG00000119715,ENST00000556177,,ESRRB,0.25,probably_damaging,0.936,deleterious,0,5.32522,34,O95718_A110V,A,V,110,AV,A110V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,,,,0.857831
2776,Q04671,V,I,443,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,0.005,0.002,0.006,0.002,,,,0.01,114212,34592,ENSG00000104044,ENST00000354638,CCDS10020.1,OCA2,0.53,probably_damaging,0.999,deleterious,0.01,5.17675,32,Q04671_V443I,V,I,443,VI,V443I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.201,-2.437,1.236,,,,,,,,,0.000665768,0,0.0227041,0.934008
2886,Q9NWW5,G,D,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,2575,2167,ENSG00000128973,ENST00000538696,,CLN6,0.45,probably_damaging,0.999,deleterious,0,4.6964,26,Q9NWW5_G155D,G,D,155,GD,G155D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,,,,0.948182
3012,Q9UJJ9,T,M,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,0,0,0,,,,,,2407,124,ENSG00000090581,ENST00000204679,CCDS10436.1,GNPTG,0.94,benign,0.348,tolerated,0.24,1.31086,10.3,Q9UJJ9_T286M,T,M,286,TM,T286M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.048,-4.34,2.292,,,,,,3.938,,79.67,0.015612,0,0.532402,0.842977
3077,O15305,T,R,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,0,0,0,0.001,,0.003,,,312,75,ENSG00000140650,ENST00000268261,CCDS10536.1,PMM2,0.96,probably_damaging,1,deleterious,0,3.35582,17.3,O15305_T237R,T,R,237,TR,T237R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.245,-3.443,2.198,0.007,H,A,0.98,0,,,,0.00657793,0,0.224321,0.650629
3078,O15305,T,M,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,312,75,ENSG00000140650,ENST00000268261,CCDS10536.1,PMM2,0.96,probably_damaging,1,deleterious,0,3.33452,17.22,O15305_T237M,T,M,237,TM,T237M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.245,-4.215,2.97,0.007,H,A,0.77,0,,,,0.00657793,0,0.224321,0.641016
3129,O95255,D,H,1238,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,63930,9372,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.82,probably_damaging,0.931,deleterious,0,4.53344,24.5,O95255_D1238H,D,H,1238,DH,D1238H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.958,-4.558,2.6,,,,,,1.529,,60.75,0.000334471,0,0.0114062,0.859557
3137,O95255,G,D,1203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.03,,,,,,,,,61972,11330,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.8,probably_damaging,0.997,deleterious,0,4.42198,23.5,O95255_G1203D,G,D,1203,GD,G1203D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.625,-3.685,3.06,,,,,,1.774,,60.75,0.000200171,0,0.00682625,0.834593
3202,O95255,T,T,630,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.61,0.07,0.453,0.358,0.502,0.36,0.17,0.45,0.32,0.49,38423,3307,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.42,,,,,-0.141402,3.308,O95255_T630T,T,T,630,TT,T630T,Polar,Polar,5.6,5.6,0,119,119,0,116.1,116.1,0,0,,,,,,,,,,,,0.000756854,0,0.0258103,1.00426
3211,O95255,K,M,502,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,33141,8589,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.33,probably_damaging,1,deleterious,0,3.13669,16.49,O95255_K502M,K,M,502,KM,K502M,PositiveCharge,Hydrophobic,9.74,5.74,-4,146,149,3,168.6,162.9,-5.7,95,-0.642,-4.63,3.988,,,,,,,,,0.000102285,0,0.00348812,0.807366
3337,P55017,G,V,629,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,20117,28078,ENSG00000070915,ENST00000566786,CCDS45491.1,SLC12A3,0.61,benign,0.378,tolerated,0.23,1.87105,12.21,P55017_G629V,G,V,629,GV,G629V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00115138,0,0.0392644,0.9036
3345,Q9Y653,R,W,559,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,8476,852,ENSG00000205336,ENST00000538815,CCDS32461.1,GPR56,0.81,possibly_damaging,0.853,deleterious,0,3.78131,19.2,Q9Y653_R559W,R,W,559,RW,R559W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00245932,0,0.0838678,0.96958
3399,Q99958,S,L,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,53,1225,ENSG00000176692,ENST00000320354,CCDS10958.1,FOXC2,0.25,probably_damaging,0.999,deleterious,0,4.86959,27.9,Q99958_S125L,S,L,125,SL,S125L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.146,-3.175,2.029,,,,,,,,,0.000330097,0,0.011257,0.840132
3422,P34059,F,V,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,700,2047,ENSG00000141012,ENST00000268695,CCDS10970.1,GALNS,0.13,possibly_damaging,0.758,deleterious,0,3.33593,17.23,P34059_F69V,F,V,69,FV,F69V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.47,-2.976,1.506,,,,,,6.481,,67.62,0.00318446,0,0.108597,0.9581
3464,O60931,L,P,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,0.001,,,0.002,,1595,16,ENSG00000040531,ENST00000574776,,CTNS,0.55,probably_damaging,1,,,2.05068,12.81,O60931_L11P,L,P,11,LP,L11P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.383,-3.916,2.533,,,,,,1.08,,73.84,0.00149879,0,0.0511119,0.858235
3534,Q9BYJ1,R,S,396,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,8279,13836,ENSG00000179148,ENST00000448843,CCDS11130.1,ALOXE3,0.56,probably_damaging,0.999,deleterious,0,4.35725,23,Q9BYJ1_R396S,R,S,396,RS,R396S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.302,-3.196,1.894,,,,,,1.5,,28.13,0.00135876,0,0.0463364,0.868629
3647,P02533,L,P,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,98,109,ENSG00000186847,ENST00000167586,CCDS11400.1,KRT14,0.81,probably_damaging,1,deleterious,0,3.61171,18.38,P02533_L384P,L,P,384,LP,L384P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.819,-4.146,3.327,,,,,,0.673,,39.41,0.000963161,0,0.0328458,0.803499
3653,P08779,L,P,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,460,2516,ENSG00000186832,ENST00000301653,CCDS11401.1,KRT16,0.28,probably_damaging,0.999,deleterious,0,4.26276,22.2,P08779_L132P,L,P,132,LP,L132P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.041,-4.021,2.98,,,,,,0.561,,37.84,0.000659592,0,0.0224935,0.829853
3659,P08779,M,T,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,427,2549,ENSG00000186832,ENST00000301653,CCDS11401.1,KRT16,0.26,probably_damaging,0.999,deleterious,0,3.95178,20.2,P08779_M121T,M,T,121,MT,M121T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.345,-3.338,1.993,,,,,,1.272,,37.84,0.00126337,0,0.0430835,0.859334
3662,Q04695,Y,D,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,79,1345,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.23,probably_damaging,0.996,deleterious,0,4.42204,23.5,Q04695_Y98D,Y,D,98,YD,Y98D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.023,-3.774,2.751,,,,,,,,,0.000673607,0,0.0229714,0.77736
3663,Q04695,L,P,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,71,1353,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.22,probably_damaging,1,deleterious,0,4.37266,23.1,Q04695_L95P,L,P,95,LP,L95P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.000710558,0,0.0242315,0.800252
3664,Q04695,L,Q,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,71,1353,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.22,probably_damaging,1,deleterious,0,4.58173,24.9,Q04695_L95Q,L,Q,95,LQ,L95Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.039,-3.941,2.902,,,,,,,,,0.000710558,0,0.0242315,0.81429
3665,Q04695,R,P,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,68,1356,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.22,probably_damaging,0.991,deleterious,0,4.84912,27.6,Q04695_R94P,R,P,94,RP,R94P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.237,-3.824,2.587,,,,,,1.243,,84.95,0.000789649,0,0.0269287,0.849005
3746,P08514,S,L,957,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,14774,2549,ENSG00000005961,ENST00000262407,CCDS32665.1,ITGA2B,0.92,probably_damaging,0.952,deleterious,0,3.24263,16.87,P08514_S957L,S,L,957,SL,S957L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.239,-3.135,1.896,,,,,,,,,0.00339703,0,0.115846,0.857934
3766,P14136,R,C,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,2167,2031,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.55,probably_damaging,1,deleterious,0,2.61171,14.69,P14136_R239C,R,C,239,RC,R239C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.32,-4.958,3.638,,,,,,0.27,,30.79,0.000920094,0,0.0313771,0.806547
3809,P02452,G,R,1025,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,17,876,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.7,,,deleterious,0.01,2.84611,15.48,P02452_G1025R,G,R,1025,GR,G1025R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.657,-3.892,3.235,,,,,0,,,,0.000190039,0,0.00648074,0.664048
3821,P02452,G,V,764,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,56,41,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.52,probably_damaging,1,deleterious,0.02,4.62747,25.3,P02452_G764V,G,V,764,GV,G764V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.763,-3.609,2.846,,,,,0,,,,0.000276287,0.00285714,0.00942196,0.672376
3878,P01241,D,G,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,866,309,ENSG00000259384,ENST00000323322,CCDS11653.1,GH1,0.64,benign,0.071,deleterious,0,0.897259,8.647,P01241_D138G,D,G,138,DG,D138G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-2.529,-3.094,0.565,0.604,H,A,0.46,-0.22,3.157,,88.48,0.00692123,0,0.236028,0.938628
3880,P01241,W,X,20,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.08,,,,,,,,,211,964,ENSG00000259384,ENST00000342364,CCDS42371.1,GH1,0.16,,,,,0.661778,7.546,P01241_W20X,W,X,20,WX,W20X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00445486,0.00507614,0.15192,0.916621
3881,P40259,G,S,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,420,866,ENSG00000007312,ENST00000006750,CCDS11655.1,CD79B,0.6,possibly_damaging,0.799,deleterious,0.04,4.94081,28.7,P40259_G137S,G,S,137,GS,G137S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.04,-2.23,1.19,,,,,,15.462,15.462,70.31,,,,1.03541
3906,P35499,R,Q,675,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,15405,18960,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.37,probably_damaging,0.982,deleterious,0,4.81506,27.3,P35499_R675Q,R,Q,675,RQ,R675Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.289,-3.578,2.289,,,,,,2.329,,85.89,7.48e-05,0,0.00255143,0.885984
3907,P35499,R,W,675,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,15404,18961,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.37,probably_damaging,0.998,deleterious,0,3.19449,16.69,P35499_R675W,R,W,675,RW,R675W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.289,-5.321,4.032,,,,,,0.482,,85.89,7.48e-05,0,0.00255143,0.848401
3908,P35499,R,G,675,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,15404,18961,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.37,probably_damaging,0.986,deleterious,0,2.89056,15.63,P35499_R675G,R,G,675,RG,R675G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.289,-3.231,1.942,,,,,,4.669,,85.89,7.48e-05,0,0.00255143,0.912647
4109,P15884,R,W,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,73634,763,ENSG00000196628,ENST00000570177,,TCF4,0.83,probably_damaging,1,deleterious,0,4.97291,29,P15884_R446W,R,W,446,RW,R446W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,,,,,,,,,0.000502939,0,0.0171513,0.811912
4181,Q14353,C,Y,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,2565,727,ENSG00000130005,ENST00000447102,CCDS45897.1,GAMT,0.63,possibly_damaging,0.544,tolerated,0.16,3.50717,17.92,Q14353_C169Y,C,Y,169,CY,C169Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.293,-3.939,2.646,0.01,.,B,0.25,-0.55,,,,0.00633883,0.0149254,0.216167,0.551743
4183,Q14353,T,T,146,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.61,0.11,,,,,,,,,2396,896,ENSG00000130005,ENST00000447102,CCDS45897.1,GAMT,0.54,,,,,0.766029,8.051,Q14353_T146T,T,T,146,TT,T146T,Polar,Polar,5.6,5.6,0,119,119,0,116.1,116.1,0,0,,,,,,,,,,,,0.00753124,0.0333333,0.256831,0.948756
4196,P21217,L,R,20,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,0.161,0.282,0.098,0.21,0.25,0.22,0.32,0.11,6694,1892,ENSG00000171124,ENST00000458379,CCDS12153.1,FUT3,0.06,probably_damaging,0.96,deleterious,0.01,2.73838,15.12,P21217_L20R,L,R,20,LR,L20R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.252,-3.832,2.58,,,,,,1.52,,70.08,0.000532323,0,0.0181533,0.918249
4203,P06213,G,V,1035,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,168564,13182,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.75,probably_damaging,1,deleterious,0,4.74484,26.5,P06213_G1035V,G,V,1035,GV,G1035V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,0.011,S,b,0.73,0.38,,,,0.000459443,0,0.0156679,0.688417
4216,P06213,H,R,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,0,0,0,,,,,,109418,72328,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.17,probably_damaging,0.994,deleterious,0,2.87978,15.59,P06213_H236R,H,R,236,HR,H236R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.311,-3.26,1.949,0.153,.,b,1.03,-0.29,,,,0.00043156,0,0.0147171,0.735217
4247,P01130,C,S,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,76,964,ENSG00000130164,ENST00000558013,,LDLR,0.13,benign,0.3,deleterious,0.01,2.70101,14.99,P01130_C109S,C,S,109,CS,C109S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.111,-3.241,2.13,0.524,.,l,0.73,0,,,,0.000374733,0,0.0127792,0.801535
4277,Q92947,V,M,400,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,6652,341,ENSG00000105607,ENST00000222214,CCDS12286.1,GCDH,0.91,probably_damaging,0.99,deleterious,0,4.34123,22.8,Q92947_V400M,V,M,400,VM,V400M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.419,-3.87,2.451,,H,A,0.11,-0.52,2.715,,73.52,0.00221864,0,0.0756603,0.691356
4284,O00555,R,X,1545,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.15,,,,,,,,,119,23507,ENSG00000141837,ENST00000573710,,CACNA1A,0.62,,,,,13.5921,47,O00555_R1545X,R,X,1545,RX,R1545X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000166019,0,0.00566159,0.977351
4329,P49747,N,K,490,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.2,,,,,,,,,1263,347,ENSG00000105664,ENST00000542601,,COMP,0.68,probably_damaging,0.999,deleterious,0,4.13322,21.3,P49747_N490K,N,K,490,NK,N490K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,0.000879691,0,0.0299993,0.985913
4368,O60500,R,X,1109,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.08,,,,,,,,,20636,5977,ENSG00000161270,ENST00000378910,CCDS32996.1,NPHS1,0.89,,,,,7.19871,38,O60500_R1109X,R,X,1109,RX,R1109X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00159009,0,0.0542252,0.900587
4378,P21817,R,H,2435,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,66297,87568,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.48,possibly_damaging,0.699,,,2.37016,13.88,P21817_R2435H,R,H,2435,RH,R2435H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.177,-4.377,3.2,,,,,,0.768,,30.07,,,,0.786373
4379,P21817,R,C,2508,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,67198,86667,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.5,possibly_damaging,0.882,,,2.06523,12.86,P21817_R2508C,R,C,2508,RC,R2508C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-0.984,-2.844,1.86,,,,,,10.389,10.389,21.5,,,,0.809331
4384,P21817,V,I,4844,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,146703,7162,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.96,,,,,3.21597,16.77,P21817_V4844I,V,I,4844,VI,V4844I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,,,,0.959636
4408,P12694,G,S,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,848,13,ENSG00000248098,ENST00000457836,,BCKDHA,0.51,possibly_damaging,0.616,deleterious,0.03,5.33561,34,P12694_G227S,G,S,227,GS,G227S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.0054276,0,0.185092,0.951527
4409,#N/A,C,W,298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,801,60,ENSG00000255730,ENST00000540732,,CTC-435M10.3,0.62,possibly_damaging,0.794,deleterious,0,3.60691,18.36,#N/A_C298W,C,W,298,CW,C298W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,,,,0.932742
4410,#N/A,R,W,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,800,61,ENSG00000255730,ENST00000540732,,CTC-435M10.3,0.62,probably_damaging,1,deleterious,0,4.72717,26.3,#N/A_R299W,R,W,299,RW,R299W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
4443,P18074,R,C,608,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.16,,,,,,,,,17949,977,ENSG00000104884,ENST00000391941,,ERCC2,0.86,probably_damaging,1,deleterious,0,3.90653,19.87,P18074_R608C,R,C,608,RC,R608C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00203679,0,0.0694588,0.937925
4461,Q9H9S5,X,R,496,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.61,0.12,,,,,,,,,10890,1640,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,1,,,,,1.49016,10.93,Q9H9S5_X496R,X,R,496,XR,X496R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,,,,0.934274
4574,Q9HC10,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.61,0.07,,,,,,,,,2130,18709,ENSG00000115155,ENST00000403946,,OTOF,,,,,,4.36413,23,Q9HC10_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4815,P04070,R,W,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,2918,76,ENSG00000115718,ENST00000409048,,PROC,0.51,benign,0.045,tolerated,0.17,1.48507,10.91,P04070_R254W,R,W,254,RW,R254W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000380689,0,0.0129823,0.987856
5023,Q9NZC9,R,C,645,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,3805,675,ENSG00000138375,ENST00000357276,CCDS2403.1,SMARCAL1,0.68,probably_damaging,1,deleterious,0,4.90587,28.3,Q9NZC9_R645C,R,C,645,RC,R645C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.101,-4.943,3.842,,,,,,,,,0.000520718,0,0.0177576,0.775875
5189,P21549,A,P,210,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,2821,542,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.54,possibly_damaging,0.875,tolerated,0.23,2.88848,15.62,P21549_A210P,A,P,210,AP,A210P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-2.104,-4.264,2.16,0.078,T,A,0.52,-0.85,1.594,,93.37,0.0032808,0,0.111882,0.591415
5191,P21549,S,L,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,2846,567,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.56,possibly_damaging,0.725,deleterious,0.01,2.36267,13.86,P21549_S218L,S,L,218,SL,S218L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.465,-3.612,2.147,,E,B,0.82,-1.32,5.042,,63.01,0.0041321,0,0.140913,0.557212
5202,P21549,C,R,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,3996,829,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.65,probably_damaging,0.988,deleterious,0,2.65501,14.84,P21549_C253R,C,R,253,CR,C253R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-2.042,-3.599,1.557,0.19,.,A,1.66,0.43,13.604,13.604,83.67,0.00423589,0.00719425,0.144453,0.859266
5206,P21549,H,Q,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,973,73,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.67,probably_damaging,1,deleterious,0,3.0893,16.32,P21549_H261Q,H,Q,261,HQ,H261Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-0.9,-2.81,1.91,0.006,.,a,0.47,-1.13,9.223,9.223,75,0.00152852,0,0.0521259,0.720448
5211,P21549,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.61,0.07,,,,,,,,,909,9,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,,,,,,1.69393,11.62,P21549_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5212,P21549,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.61,0.07,,,,,,,,,909,9,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,,,,,,1.63361,11.42,P21549_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5226,P21549,V,D,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,1173,1035,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.86,possibly_damaging,0.562,deleterious,0.02,1.50723,10.99,P21549_V336D,V,D,336,VD,V336D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-2.212,-4.136,1.924,0.208,H,A,1.19,-1.31,3.401,,84.95,0.00358231,0,0.122164,0.754755
5237,Q2I0M5,C,Y,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,34262,7746,ENSG00000101282,ENST00000400634,CCDS42845.1,RSPO4,0.42,probably_damaging,0.987,deleterious,0,4.58931,25,Q2I0M5_C73Y,C,Y,73,CY,C73Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,,,,,,,,,0.00170849,0,0.0582629,0.714921
5256,Q8NBS3,M,V,856,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,1478,630,ENSG00000088836,ENST00000380056,CCDS13052.1,SLC4A11,0.96,benign,0.107,deleterious,0,3.11253,16.4,Q8NBS3_M856V,M,V,856,MV,M856V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.406,-2.671,1.265,,,,,,,,,0.00355623,0,0.121275,0.899634
5305,Q15437,R,W,530,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,727,17739,ENSG00000101310,ENST00000377475,CCDS13137.1,SEC23B,0.69,probably_damaging,1,deleterious,0,4.32834,22.7,Q15437_R530W,R,W,530,RW,R530W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,,,,,,,,,0.000370107,0,0.0126214,0.811912
5315,Q9UBC3,S,P,282,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,9155,11897,ENSG00000088305,ENST00000201963,CCDS13204.1,DNMT3B,0.33,probably_damaging,0.998,deleterious,0,4.34692,22.9,Q9UBC3_S282P,S,P,282,SP,S282P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.000734482,0,0.0250474,0.992445
5322,Q9UBC3,R,Q,832,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,28008,421,ENSG00000088305,ENST00000201963,CCDS13204.1,DNMT3B,0.98,probably_damaging,0.994,deleterious,0.01,5.39556,34,Q9UBC3_R832Q,R,Q,832,RQ,R832Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.591,-3.462,1.871,0.65,T,A,0.56,-0.22,4.345,,81.59,0.0054373,0,0.185423,0.90475
5353,P41235,M,R,373,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,899,397,ENSG00000101076,ENST00000443598,CCDS13331.1,HNF4A,0.89,probably_damaging,0.996,deleterious,0,3.82262,19.41,P41235_M373R,M,R,373,MR,M373R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.803,-2.117,0.314,0.038,H,A,1.75,-0.38,31.791,31.791,92.41,0.000805948,0,0.0274845,0.832731
5410,O43526,L,R,637,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,65286,906,ENSG00000075043,ENST00000359689,,KCNQ2,0.73,probably_damaging,1,deleterious,0,4.60978,25.2,O43526_L637R,L,R,637,LR,L637R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-0.833,-4.025,3.192,,,,,,1.396,,76.26,0.000733162,0,0.0250023,0.850457
5426,O43526,Q,X,323,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.03,,,,,,,,,33958,5002,ENSG00000075043,ENST00000359689,,KCNQ2,0.37,,,,,7.44137,39,O43526_Q323X,Q,X,323,QX,Q323X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000416856,0,0.0142156,0.98231
5592,P53673,L,P,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,3545,5114,ENSG00000196431,ENST00000354760,CCDS13841.1,CRYBA4,0.35,probably_damaging,1,deleterious,0,2.53723,14.44,P53673_L69P,L,P,69,LP,L69P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,E,B,1.07,-0.76,,,,0.00314532,0,0.107262,0.528279
5617,P35579,R,C,1165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,2255,444,ENSG00000100345,ENST00000216181,CCDS13927.1,MYH9,0.59,probably_damaging,0.99,deleterious,0.02,3.62341,18.44,P35579_R1165C,R,C,1165,RC,R1165C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.064,-4.962,3.898,,,,,,,,,7.77e-05,0,0.00265075,0.780414
5630,P15153,D,N,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,11414,453,ENSG00000128340,ENST00000405484,,RAC2,0.27,possibly_damaging,0.882,deleterious,0.02,5.63673,36,P15153_D50N,D,N,50,DN,D50N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00632582,0,0.215723,0.946313
5643,O60733,Y,X,736,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.08,0,0,0,,,,,,644,340,ENSG00000184381,ENST00000335539,CCDS33645.1,PLA2G6,0.98,,,,,6.13307,37,O60733_Y736X,Y,X,736,YX,Y736X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00243985,0,0.0832039,0.953982
5647,O60733,K,T,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,174,108,ENSG00000184381,ENST00000335539,CCDS33645.1,PLA2G6,0.65,benign,0.002,deleterious,0,3.85386,19.58,O60733_K491T,K,T,491,KT,K491T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,,,,,,,,,,,,0.000834544,0,0.0284597,0.98732
5666,P00387,R,X,196,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.05,,,,,,,,,9482,4123,ENSG00000100243,ENST00000407623,CCDS14040.1,CYB5R3,0.71,,,,,6.54132,37,P00387_R196X,R,X,196,RX,R196X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00564497,0,0.192505,0.929664
5679,O75631,G,D,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,8223,2609,ENSG00000100373,ENST00000396082,CCDS54539.1,UPK3A,0.49,probably_damaging,0.998,deleterious,0,4.58683,24.9,O75631_G81D,G,D,81,GD,G81D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,,,,0.948182
5690,Q9BV10,T,M,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.16,,,,,,,,,4979,10261,ENSG00000182858,ENST00000330817,CCDS14081.1,ALG12,0.14,probably_damaging,0.999,deleterious,0,3.20409,16.73,Q9BV10_T67M,T,M,67,TM,T67M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.334,-4.393,3.059,,,,,,0.931,,59.84,0.00269662,0,0.0919602,0.84974
5730,P15289,E,K,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,1474,91,ENSG00000100299,ENST00000547805,,ARSA,0.5,probably_damaging,1,deleterious,0,4.49307,24.1,P15289_E253K,E,K,253,EK,E253K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,0.043,H,A,1.3,-0.32,,,,0.00136149,0,0.0464296,0.677176
5775,P56539,C,W,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,0.001,0.001,0.002,0.002,,0.01,,0.003,587,1130,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.48,probably_damaging,0.976,deleterious,0,2.55878,14.52,P56539_C72W,C,W,72,CW,C72W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.835,-3.343,1.508,,,,,,20.059,20.059,66.23,0.0110715,0,0.377561,0.863349
5776,P56539,T,K,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,604,1113,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.52,possibly_damaging,0.599,deleterious,0.04,3.08699,16.31,P56539_T78K,T,K,78,TK,T78K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-2.334,-4.038,1.704,,,,,,3.673,,52.98,0.0128506,0,0.438231,0.850781
5777,P56539,L,R,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,607,1110,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.52,possibly_damaging,0.899,deleterious,0,2.63366,14.77,P56539_L79R,L,R,79,LR,L79R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.595,-4.451,2.856,,,,,,2.22,,52.98,0.0127712,0,0.435523,0.7582
5865,P37173,R,H,528,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,84877,2657,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.93,probably_damaging,1,deleterious,0,5.59239,35,P37173_R528H,R,H,528,RH,R528H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,,,,0.778646
5959,Q9NSU2,V,A,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,750,414,ENSG00000213689,ENST00000444177,,TREX1,0.37,possibly_damaging,0.871,deleterious,0,4.67542,25.8,Q9NSU2_V112A,V,A,112,VA,V112A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.247,-1.923,0.676,0.308,.,B,0.44,-0.05,20.802,20.802,71.82,0.00400152,0,0.13646,0.941146
5985,Q9BU61,R,P,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,610,274,ENSG00000178057,ENST00000326912,CCDS2785.1,NDUFAF3,0.51,benign,0.056,tolerated,0.11,3.05888,16.21,Q9BU61_R65P,R,P,65,RP,R65P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.0112032,0,0.382054,0.899908
5993,P48728,D,H,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.01,,,,,,,,,195,257,ENSG00000145020,ENST00000430521,,AMT,0.84,probably_damaging,1,deleterious,0,4.57304,24.8,P48728_D220H,D,H,220,DH,D220H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,,,,,,,,,,,,0.00414865,0,0.141477,0.964243
5995,P48728,Q,X,136,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.04,,,,,,,,,24,62,ENSG00000145020,ENST00000430521,,AMT,0.52,,,,,3.68033,18.7,P48728_Q136X,Q,X,136,QX,Q136X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00515081,0,0.175653,0.939861
6003,Q03154,R,H,393,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,0.005,0.001,0.006,0.004,,0.01,0.002,0.01,724,46,ENSG00000243989,ENST00000404366,CCDS2844.1,ACY1,0.96,possibly_damaging,0.838,tolerated,0.07,3.26157,16.94,Q03154_R393H,R,H,393,RH,R393H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.888,-2.426,0.538,,,,,,32.887,32.887,92.89,0.000769721,0,0.0262491,1.01562
6137,P41180,Q,H,681,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,29835,1291,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.63,probably_damaging,0.963,tolerated,0.57,0.94822,8.866,P41180_Q681H,Q,H,681,QH,Q681H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-1.649,-1.494,-0.155,,,,,,13.137,13.137,31.35,0.000611748,0,0.0208619,1.00854
6170,P08100,C,Y,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,422,6108,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.32,probably_damaging,1,deleterious,0,4.43162,23.6,P08100_C110Y,C,Y,110,CY,C110Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,0.01,H,A,0.25,-0.73,,,,0.000384659,0,0.0131177,0.634188
6288,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.61,0.2,,,,,,,,,113,550,,ENSR00001378964,,,,,,,,-0.352439,2.335,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6297,Q92847,A,E,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.15,,,,,,,,,653,259,ENSG00000121853,ENST00000241256,CCDS3218.1,GHSR,0.56,probably_damaging,0.909,deleterious,0,4.68536,25.9,Q92847_A204E,A,E,204,AE,A204E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.013,-3.257,2.244,,,,,,,,,0.00465674,0.00617284,0.158804,0.765892
6345,Q13144,R,Q,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,103,56,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.47,benign,0.194,tolerated,0.07,4.18412,21.7,Q13144_R339Q,R,Q,339,RQ,R339Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.402,-3.289,1.887,,,,,,3.841,,72.12,0.00170161,0,0.0580284,1.04018
6346,Q13144,R,P,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,103,56,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.47,possibly_damaging,0.875,deleterious,0,4.87216,27.9,Q13144_R339P,R,P,339,RP,R339P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.402,-3.65,2.248,,,,,,1.956,,72.12,0.00170161,0,0.0580284,0.903439
6347,Q13144,R,L,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,103,56,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.47,possibly_damaging,0.785,deleterious,0,5.11528,32,Q13144_R339L,R,L,339,RL,R339L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.402,-3.198,1.796,,,,,,3.055,,72.12,0.00170161,0,0.0580284,1.02369
6592,Q99697,T,P,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,498,55,ENSG00000164093,ENST00000394598,CCDS3692.1,PITX2,0.36,probably_damaging,0.991,deleterious,0,5.28126,33,Q99697_T114P,T,P,114,TP,T114P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.577,-3.516,1.939,,,,,,1.417,,86.75,0.00315957,0.00492611,0.107748,0.947288
6702,O14746,R,W,901,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,1979,298,ENSG00000164362,ENST00000310581,CCDS3861.2,TERT,0.8,probably_damaging,0.913,deleterious,0,1.76255,11.85,O14746_R901W,R,W,901,RW,R901W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.198,-3.004,0.806,,,,,,17.502,17.502,71.82,0.00184434,0,0.0628958,1.05372
6708,O14746,P,R,721,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.17,,,,,,,,,4246,12315,ENSG00000164362,ENST00000296820,,TERT,0.89,possibly_damaging,0.896,deleterious,0,3.98535,20.4,O14746_P721R,P,R,721,PR,P721R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.966,-3.75,2.784,,,,,,,,,0.000776623,0,0.0264844,0.793437
6991,Q16558,E,K,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,0.087,0.06,0.101,0.1,0.12,0.14,0.04,0.1,5843,1140,ENSG00000145936,ENST00000521859,,KCNMB1,0.5,benign,0.024,tolerated,0.19,2.84585,15.48,Q16558_E65K,E,K,65,EK,E65K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.633,-1.655,0.022,,,,,,17.263,17.263,86.39,0.00687818,0.00793651,0.23456,0.993025
7015,P00748,Y,C,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,1613,3879,ENSG00000131187,ENST00000253496,CCDS34302.1,F12,0.09,probably_damaging,1,deleterious,0,3.75828,19.08,P00748_Y53C,Y,C,53,YC,Y53C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.353,-4.815,3.462,,,,,,0.425,,39.19,0.000671332,0,0.0228938,0.806089
7016,Q9UBV7,A,D,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,80,88,ENSG00000027847,ENST00000029410,CCDS4429.1,B4GALT7,0.57,probably_damaging,0.985,deleterious,0,5.01009,29.5,Q9UBV7_A186D,A,D,186,AD,A186D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.337,-3.424,2.087,,S,b,0.75,-0.49,2.005,,53.82,0.00551301,0,0.188005,0.57409
7023,O75360,R,X,99,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.05,,,,,,,,,2090,1918,ENSG00000175325,ENST00000308304,CCDS4430.1,PROP1,0.44,,,,,4.685,25.9,O75360_R99X,R,X,99,RX,R99X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000673767,0,0.0229768,0.977351
7050,Q12948,I,M,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.16,,,,,,,,,260,3187,ENSG00000054598,ENST00000380874,CCDS4473.1,FOXC1,0.16,probably_damaging,1,deleterious,0,3.15822,16.56,Q12948_I87M,I,M,87,IM,I87M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.313,-3.807,2.494,,,,,,,,,0.000420633,0,0.0143445,0.843994
7052,Q12948,L,F,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.16,,,,,,,,,387,3060,ENSG00000054598,ENST00000380874,CCDS4473.1,FOXC1,0.24,probably_damaging,1,deleterious,0,3.36332,17.33,Q12948_L130F,L,F,130,LF,L130F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.117,-3.394,2.277,,,,,,,,,0.000272889,0,0.00930608,0.843364
7113,Q99519,L,P,363,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.03,,,,,,,,,2918,644,ENSG00000204386,ENST00000375631,CCDS4723.1,NEU1,0.87,probably_damaging,0.974,deleterious,0,3.70991,18.84,Q99519_L363P,L,P,363,LP,L363P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.434,-3.988,2.554,,,,,,1.387,,86.27,0.00705384,0,0.24055,0.818438
7328,O60260,V,E,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.12,,,,,,,,,284355,898202,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.13,possibly_damaging,0.753,deleterious,0,4.67862,25.8,O60260_V56E,V,E,56,VE,V56E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-2.06,-4.003,1.943,,,,,,2.952,,10.97,0.00141168,0,0.048141,0.790797
7366,Q02643,A,E,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,2021,87,ENSG00000106128,ENST00000409904,,GHRHR,0.44,possibly_damaging,0.859,deleterious,0,3.4524,17.69,Q02643_A158E,A,E,158,AE,A158E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,,,,,,,,,,,,0.00205182,0,0.0699712,0.961059
7437,P00533,T,M,737,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,7557,1628,ENSG00000146648,ENST00000454757,,EGFR,0.64,probably_damaging,0.994,deleterious,0,5.05566,30,P00533_T737M,T,M,737,TM,T737M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.000471882,0,0.0160921,0.993053
7462,Q9Y3A5,N,K,8,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.21,,,,,,,,,173,3462,ENSG00000126524,ENST00000246868,CCDS5537.1,SBDS,0.03,possibly_damaging,0.863,deleterious,0.02,5.32548,34,Q9Y3A5_N8K,N,K,8,NK,N8K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.422,-3.765,2.343,0.944,T,a,1.73,0,3.013,,82,0.00572625,0,0.195277,0.793876
7465,P15502,Q,X,442,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.09,,,,,,,,,3829,315,ENSG00000049540,ENST00000380562,,ELN,0.61,,,,,3.81019,19.35,P15502_Q442X,Q,X,442,QX,Q442X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7468,P14598,R,Q,18,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,52,3484,ENSG00000158517,ENST00000442021,,NCF1,0.12,probably_damaging,0.955,deleterious,0,4.50422,24.2,P14598_R18Q,R,Q,18,RQ,R18Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00195974,0.00268817,0.066831,0.976146
7470,P14598,C,X,118,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.13,,,,,,,,,25,1443,ENSG00000158517,ENST00000442021,,NCF1,0.81,,,,,4.77324,26.8,P14598_C118X,C,X,118,CX,C118X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00132501,0,0.0451856,0.903046
7673,Q99835,W,L,535,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,9,629,ENSG00000128602,ENST00000249373,CCDS5811.1,SMO,0.68,probably_damaging,0.993,deleterious,0,5.52762,35,Q99835_W535L,W,L,535,WL,W535L,Hydrophobic,Hydrophobic,5.89,9.71,3.82,204,131,-73,227.8,166.7,-61.1,61,-1.301,-3.094,1.793,,,,,,,,,0.000683349,0,0.0233036,0.885871
7730,Q12809,G,R,572,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,4132,2245,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.49,probably_damaging,1,deleterious,0,4.26319,22.2,Q12809_G572R,G,R,572,GR,G572R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.000504594,0,0.0172077,0.78896
7733,Q12809,A,T,490,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.15,,,,,,,,,3297,3080,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.42,probably_damaging,0.986,deleterious,0,5.38867,34,Q12809_A490T,A,T,490,AT,A490T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,,,,,,,,,0.000241097,0,0.00822192,0.90655
7814,P11686,E,K,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,353,6,ENSG00000168484,ENST00000521315,CCDS55209.1,SFTPC,0.35,probably_damaging,0.996,deleterious,0,4.39762,23.3,P11686_E66K,E,K,66,EK,E66K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,0.00371267,0,0.12661,0.887644
7841,P49675,V,M,166,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,2701,310,ENSG00000147465,ENST00000522050,,STAR,0.67,probably_damaging,0.981,deleterious,0,5.07535,31,P49675_V166M,V,M,166,VM,V166M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.0052784,0,0.180004,0.962101
7850,P11362,V,M,516,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.03,,,,,,,,,19,89,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.71,probably_damaging,1,deleterious,0,5.35467,34,P11362_V516M,V,M,516,VM,V516M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00021643,0,0.00738072,1.0045
7854,P11362,P,L,275,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,325,2313,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.38,benign,0.282,tolerated,0.09,3.08148,16.29,P11362_P275L,P,L,275,PL,P275L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.000232356,0,0.0079238,0.98481
7999,P01266,R,Q,2336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,4422,7859,ENSG00000042832,ENST00000220616,CCDS34944.1,TG,0.84,probably_damaging,1,deleterious,0,5.73962,36,P01266_R2336Q,R,Q,2336,RQ,R2336Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.101,-3.305,2.204,,,,,,,,,0.000135408,0,0.00461768,0.83722
8013,P15538,W,X,116,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.08,,,,,,,,,741,5255,ENSG00000160882,ENST00000517471,CCDS34953.1,CYP11B1,0.27,,,,,5.39285,34,P15538_W116X,W,X,116,WX,W116X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00117687,0,0.0401336,0.889194
8062,P07951,N,K,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.03,,,,,,,,,779,14,ENSG00000198467,ENST00000360958,CCDS6587.1,TPM2,0.71,benign,0.098,deleterious,0,3.37172,17.37,P07951_N202K,N,K,202,NK,N202K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.41,-2.914,1.504,,,,,0,,,,0.00267656,0,0.0912764,0.816937
8067,P07951,E,K,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,636,5014,ENSG00000198467,ENST00000360958,CCDS6587.1,TPM2,0.14,benign,0.304,deleterious,0,5.00002,29.4,P07951_E41K,E,K,41,EK,E41K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.514,-2.94,1.426,,,,,,3.95,,86.62,0.00327004,0.00411523,0.111515,0.971646
8069,P20594,W,G,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,342,16982,ENSG00000159899,ENST00000342694,CCDS6590.1,NPR2,0.11,possibly_damaging,0.848,deleterious,0.03,3.3212,17.17,P20594_W115G,W,G,115,WG,W115G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.52,-3.169,1.649,,,,,,2.661,,79.75,0.000780944,0,0.0266318,0.908976
8229,P13716,F,L,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,0,0,0,,,,,,969,22,ENSG00000148218,ENST00000452726,,ALAD,0.35,possibly_damaging,0.635,tolerated,0.08,4.36171,23,P13716_F21L,F,L,21,FL,F21L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.0039936,0,0.13619,0.958274
8248,O60663,Q,X,59,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.16,,,,,,,,,1018,80965,ENSG00000136944,ENST00000425646,,LMX1B,0.16,,,,,7.25081,38,O60663_Q59X,Q,X,59,QX,Q59X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8253,O60663,R,X,226,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.07,,,,,,,,,79058,2925,ENSG00000136944,ENST00000425646,,LMX1B,0.61,,,,,5.35032,34,O60663_R226X,R,X,226,RX,R226X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8289,P00966,G,V,362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,15125,6198,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.88,possibly_damaging,0.871,deleterious,0,4.66762,25.7,P00966_G362V,G,V,362,GV,G362V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.15,-3.484,2.334,0.103,E,b,0.73,-0.99,3.461,,83.98,0.00361882,0,0.123409,0.566355
8345,Q6X4W1,T,A,455,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,3516,49,ENSG00000165802,ENST00000371474,CCDS48067.1,NELF,0.9,benign,0.071,tolerated,0.11,2.27994,13.58,Q6X4W1_T455A,T,A,455,TA,T455A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,,,,,,,,,,,,,,,0.950942
8534,Q92834,G,X,977,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0,,,,,,,,,5396,1661,ENSG00000156313,ENST00000378505,CCDS35229.1,RPGR,0.85,,,,,6.11442,37,Q92834_G977X,G,X,977,GX,G977X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.00642717,0,0.21918,0.915078
8844,Q00604,S,F,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,167,217,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.76,probably_damaging,0.962,deleterious,0,4.61115,25.2,Q00604_S101F,S,F,101,SF,S101F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.348,-3.803,2.455,,,,,,,,,0.0138199,0,0.471288,0.761582
8885,P42768,A,V,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.04,,,,,,,,,489,2555,ENSG00000015285,ENST00000450772,,WAS,0.26,probably_damaging,0.983,deleterious,0,4.57586,24.8,P42768_A56V,A,V,56,AV,A56V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.403,-2.186,0.783,0.087,E,B,0.44,0,11.048,11.048,67.13,0.00158038,0,0.0538941,0.870245
8894,P15976,R,Q,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,61,1938,ENSG00000102145,ENST00000376670,CCDS14305.1,GATA1,0.52,possibly_damaging,0.877,deleterious,0,5.13197,32,P15976_R216Q,R,Q,216,RQ,R216Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.442,-3.44,1.998,,,,,,1.215,,65.86,0.00133471,0,0.0455165,0.89524
8895,P15976,D,Y,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.05,,,,,,,,,56,1933,ENSG00000102145,ENST00000376670,CCDS14305.1,GATA1,0.53,probably_damaging,0.992,deleterious,0,4.08088,21,P15976_D218Y,D,Y,218,DY,D218Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.057,-4.164,3.107,,,,,,,,,0.00121746,0,0.0415178,0.708903
8896,P15976,D,G,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,55,1932,ENSG00000102145,ENST00000376670,CCDS14305.1,GATA1,0.53,probably_damaging,0.956,deleterious,0,4.05607,20.8,P15976_D218G,D,G,218,DG,D218G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.057,-2.91,1.853,,,,,,,,,0.00121746,0,0.0415178,0.820431
9202,P06280,N,S,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,7,4363,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.08,probably_damaging,0.935,deleterious,0,2.90037,15.66,P06280_N34S,N,S,34,NS,N34S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.156,-2.915,1.759,0.256,S,A,0.34,0,2.965,,70.16,0.00240494,0.00506329,0.0820134,0.906637
9203,P06280,A,P,20,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.11,,,,,,,,,13,4320,ENSG00000102393,ENST00000218516,CCDS14484.1,GLA,0.05,benign,0.022,tolerated,0.07,0.707855,7.773,P06280_A20P,A,P,20,AP,A20P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.738,-3.882,2.144,,,,,,2.147,,81.12,0.00269748,0.00733496,0.0919895,0.907488
9485,O60880,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.61,0.07,,,,,,,,,56,24844,ENSG00000183918,ENST00000360027,CCDS48162.1,SH2D1A,0.01,probably_damaging,0.98,deleterious,0,3.0244,16.09,O60880_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.71,-2.846,1.136,,,,,,,,,0.00795256,0.0314961,0.271199,0.878178
9686,P33897,R,Q,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.09,,,,,,,,,888,606,ENSG00000101986,ENST00000443684,,ABCD1,0.31,probably_damaging,0.997,deleterious,0,5.0556,30,P33897_R69Q,R,Q,69,RQ,R69Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.55,-2.309,0.759,,,,,,19.211,19.211,89.8,0.000602227,0,0.0205372,1.00386
9687,P33897,R,W,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,1028,746,ENSG00000101986,ENST00000443684,,ABCD1,0.39,probably_damaging,1,deleterious,0,3.61976,18.42,P33897_R86W,R,W,86,RW,R86W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000294666,0,0.0100487,0.987856
9731,P04000,R,X,110,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.61,0.07,,,,,,,,,1794,1664,ENSG00000102076,ENST00000442922,,OPN1LW,0.67,,,,,4.46456,23.8,P04000_R110X,R,X,110,RX,R110X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0015738,0,0.05367,0.900587
9740,P21333,D,A,1159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,681,11535,ENSG00000196924,ENST00000422373,CCDS44021.1,FLNA,0.44,probably_damaging,0.992,deleterious,0.04,1.64135,11.45,P21333_D1159A,D,A,1159,DA,D1159A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-1.264,-2.984,1.72,,,,,,,,,0.000168955,0,0.00576173,0.896698
9741,P21333,L,F,656,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.13,,,,,,,,,626,51,ENSG00000196924,ENST00000344736,,FLNA,0.25,possibly_damaging,0.692,deleterious,0.04,3.3924,17.45,P21333_L656F,L,F,656,LF,L656F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.956,-3.863,1.907,,,,,,2.44,,78.92,8.32e-05,0,0.0028389,0.963871
9742,P21333,G,G,641,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.61,0.2,,,,,,,,,583,8,ENSG00000196924,ENST00000344736,,FLNA,0.25,,,,,0.929199,8.785,P21333_G641G,G,G,641,GG,G641G,Special,Special,3.29,3.29,0,75,75,0,60.1,60.1,0,0,,,,,,,,,,,,4.39e-05,0,0.00149727,1.01168
9755,Q16635,R,S,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.07,,,,,,,,,157,320,ENSG00000102125,ENST00000475699,,TAZ,0.35,probably_damaging,0.997,deleterious,0,4.24161,22.1,Q16635_R94S,R,S,94,RS,R94S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.777,-2.203,0.426,,,,,,17.097,17.097,77.74,0.00224074,0,0.0764137,0.970816
9771,#N/A,C,R,417,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,2052,467,ENSG00000073009,ENST00000369606,CCDS14757.1,IKBKG,1,probably_damaging,0.999,deleterious,0.01,3.35165,17.29,#N/A_C417R,C,R,417,CR,C417R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,,,,0.932506
9772,#N/A,C,F,417,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.61,0.08,,,,,,,,,2053,468,ENSG00000073009,ENST00000369606,CCDS14757.1,IKBKG,1,probably_damaging,0.999,deleterious,0,3.48416,17.82,#N/A_C417F,C,F,417,CF,C417F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,,,,0.932606
39,Q9HC10,V,M,1625,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.08,,,,,,,,,1370,1450,ENSG00000115155,ENST00000403946,,OTOF,0.81,possibly_damaging,0.752,deleterious,0.01,3.79802,19.28,Q9HC10_V1625M,V,M,1625,VM,V1625M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.682,-2.916,1.234,,,,,,3.838,3.382,79.32,,,,0.921008
45,Q9H251,F,L,885,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.05,0.026,0.011,0.033,0.1,0.27,0.06,0.01,0.05,15152,3889,ENSG00000107736,ENST00000398788,CCDS53540.1,CDH23,0.79,benign,0.385,tolerated,0.14,4.20489,21.8,Q9H251_F885L,F,L,885,FL,F885L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,,,,0.940953
50,Q9H251,R,Q,1807,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.09,0.136,0.078,0.164,0.15,0.21,0.11,0.07,0.19,387392,31568,ENSG00000107736,ENST00000224721,,CDH23,0.54,probably_damaging,0.975,tolerated,0.07,5.59602,35,Q9H251_R1807Q,R,Q,1807,RQ,R1807Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
153,Q13402,Y,C,861,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.11,0.042,0.111,0.009,0.04,,0.03,0.14,0.01,775,12543,ENSG00000137474,ENST00000458169,,MYO7A,0.63,possibly_damaging,0.824,tolerated,0.07,3.8494,19.55,Q13402_Y861C,Y,C,861,YC,Y861C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
170,P55916,V,I,102,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.11,0.041,0.119,0.001,0.04,,0.01,0.15,0.004,1103,16,ENSG00000175564,ENST00000314032,CCDS8229.1,UCP3,0.33,benign,0.039,deleterious,0.05,2.91554,15.72,P55916_V102I,V,I,102,VI,V102I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.439,-2.098,0.659,0.4,H,A,0.04,0,20.191,20.191,60.9,0.00297108,0,0.1175,0.917475
177,P54098,R,C,1146,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.11,0,0,0,0.001,0.002,,,,759,682,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.92,probably_damaging,0.993,deleterious,0,4.40326,23.3,P54098_R1146C,R,C,1146,RC,R1146C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.716,-3.743,2.027,,,,,,30.972,30.972,64.08,0.0014281,0,0.0564784,0.851158
179,P54098,R,C,546,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.05,0.006,0.017,0,0.003,,,0.01,,4,326,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.44,benign,0.418,deleterious,0.02,1.9258,12.4,P54098_R546C,R,C,546,RC,R546C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.014,-5.284,3.27,,,,,,1.302,,87.65,0.000665195,0,0.026307,0.83258
211,P29972,A,V,45,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.15,0.031,0.013,0.041,0.02,,0.01,0.01,0.03,188,11770,ENSG00000240583,ENST00000311813,CCDS5431.1,AQP1,0.17,benign,0.005,tolerated,0.15,1.42376,10.7,P29972_A45V,A,V,45,AV,A45V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.968,-2.667,0.699,0.709,T,A,0.44,0.77,24.721,24.721,93.31,0.00562464,0.00446429,0.222442,0.958358
225,P22303,H,N,353,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.08,0.034,0.007,0.047,0.03,0.002,0.04,,0.06,1058,582,ENSG00000087085,ENST00000241069,CCDS5709.1,ACHE,0.57,benign,0.038,deleterious,0,0.315442,5.71,P22303_H353N,H,N,353,HN,H353N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,-2.87,-3.09,0.22,0.8,T,B,0.44,0.24,12.947,12.947,89.74,0.00170942,0,0.0676038,0.961133
234,P21817,D,N,60,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.05,,,,,,,,,8661,145204,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.01,benign,0.329,,,1.55115,11.14,P21817_D60N,D,N,60,DN,D60N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.259,-2.632,1.373,0.207,S,B,0.14,-0.32,5.243,5.243,48.79,,,,0.802706
269,P21817,Y,N,4626,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.05,,,,,,,,,138463,15402,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.92,,,,,2.86855,15.56,P21817_Y4626N,Y,N,4626,YN,Y4626N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,,,,,,,,,,,,,,,0.900009
272,P21549,A,V,280,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.08,0.011,0.031,0.001,0.01,,0.01,0.03,,917,17,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.71,benign,0.038,tolerated,0.16,1.83174,12.08,P21549_A280V,A,V,280,AV,A280V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.971,-2.466,0.495,0.039,H,A,0.44,1.06,22.596,22.596,89.03,0.00382125,0,0.151122,0.955169
273,P21549,I,T,279,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.08,0.002,0.001,0.002,0.01,0.01,0.003,0.01,0.01,920,20,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.71,possibly_damaging,0.471,deleterious,0,3.31208,17.13,P21549_I279T,I,T,279,IT,I279T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.785,-3.737,1.952,0.075,H,A,0.7,0.33,4.211,,81.12,0.00436603,0,0.172667,0.809179
274,P21549,I,M,340,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.11,0.159,0.064,0.208,0.14,0.09,0.17,0.06,0.21,1186,1022,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.87,benign,0.001,tolerated,1,-2.21695,0.005,P21549_I340M,I,M,340,IM,I340M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-2.507,-1.721,-0.786,0.316,H,A,0.07,-1.34,14.462,14.462,93.37,0.00342797,0,0.135569,0.950135
279,P21549,V,I,326,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.09,0.005,0.014,0,0.002,,,0.01,,1142,1066,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.83,benign,0.026,tolerated,0.8,-1.02611,0.224,P21549_V326I,V,I,326,VI,V326I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.524,-1.653,0.129,0.242,.,B,0.04,-0.9,22.027,22.027,85.46,0.00575211,0,0.227484,0.968215
297,P10071,R,C,1537,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.09,0.04,0.008,0.057,0.02,,0.01,0.002,0.05,187991,382,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.97,probably_damaging,0.989,deleterious,0.04,4.9571,28.9,P10071_R1537C,R,C,1537,RC,R1537C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.456,-2.86,1.404,,,,,,2.111,2.111,4.37,0.0044997,0,0.177953,0.816099
306,P06727,Q,H,380,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0,0.061,0.018,0.083,0.03,,0.06,0.004,0.06,2389,215,ENSG00000110244,ENST00000357780,CCDS31681.1,APOA4,0.96,,,tolerated,0.13,0.094555,4.51,P06727_Q380H,Q,H,380,QH,Q380H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-2.284,-4.336,2.052,,,,,,2.262,,89.9,0.00435772,0,0.172338,0.910314
311,P04626,I,V,94,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.08,0.007,0.002,0.009,0.003,,0.003,,0.01,5903,619,ENSG00000141736,ENST00000582818,,ERBB2,0.53,,,,,2.32963,13.75,P04626_I94V,I,V,94,IV,I94V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.000714702,0,0.0282649,1.00528
312,P04275,R,H,1399,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.08,0.01,0.003,0.014,,,,,,2705,307,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.5,possibly_damaging,0.549,deleterious,0.04,3.64547,18.54,P04275_R1399H,R,H,1399,RH,R1399H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000135779,0,0.00536978,1.00329
340,P02545,N,H,150,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.12,,,,,,,,,35,105,ENSG00000160789,ENST00000392353,,LMNA,0.31,possibly_damaging,0.708,deleterious,0,3.51227,17.94,P02545_N150H,N,H,150,NH,N150H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,,,,,,,,,,,,0.00148533,0,0.0587415,0.912434
367,O95255,V,I,514,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.09,0.001,0,0.001,0.001,,,0.002,,33176,8554,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.34,benign,0.06,tolerated,0.21,1.52918,11.07,O95255_V514I,V,I,514,VI,V514I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.145,-1.463,0.318,,,,,,22.691,22.691,85.63,0.000751675,0,0.0297271,1.02452
368,O95255,W,C,1241,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.62,0.07,0,0,0,,,,,,63941,9361,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.83,benign,0.07,deleterious,0,1.48289,10.91,O95255_W1241C,W,C,1241,WC,W1241C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-3.917,-4.195,0.278,,,,,,38.522,38.522,19.96,0.000613789,0,0.024274,0.936293
4,O75161,F,S,991,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,2521,41,ENSG00000131697,ENST00000378156,CCDS44052.1,NPHP4,0.69,probably_damaging,0.999,deleterious,0,3.35713,17.31,O75161_F991S,F,S,991,FS,F991S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.295,-3.421,2.126,,,,,,0.934,,27.28,0.000489371,0,0.0166886,0.850603
6,O75161,E,X,790,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.13,,,,,,,,,17922,908,ENSG00000131697,ENST00000378156,CCDS44052.1,NPHP4,0.55,,,,,7.22086,38,O75161_E790X,E,X,790,EX,E790X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000434412,0,0.0148143,0.980139
8,O75161,R,X,682,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.12,,,,,,,,,609,18221,ENSG00000131697,ENST00000378156,CCDS44052.1,NPHP4,0.48,,,,,9.78146,42,O75161_R682X,R,X,682,RX,R682X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00035609,0,0.0121434,0.977351
43,O00187,D,G,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,0.021,0.006,0.029,0.02,,0.02,,0.04,615,1811,ENSG00000009724,ENST00000400898,CCDS124.1,MASP2,0.65,probably_damaging,0.999,deleterious,0.01,4.5518,24.6,O00187_D120G,D,G,120,DG,D120G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.871,-2.516,1.645,0.396,.,B,0.46,0.77,21.182,21.182,80.76,0.000532465,0,0.0181581,0.956865
64,O95140,R,H,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,21111,12086,ENSG00000116688,ENST00000235329,CCDS30587.1,MFN2,0.37,probably_damaging,0.958,deleterious,0,5.00647,29.4,O95140_R280H,R,H,280,RH,R280H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.746,-4.226,2.48,,,,,,0.829,,89.04,,,,0.838083
65,O95140,K,N,357,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,21702,11495,ENSG00000116688,ENST00000235329,CCDS30587.1,MFN2,0.47,probably_damaging,0.988,deleterious,0,3.96314,20.3,O95140_K357N,K,N,357,KN,K357N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-1.265,-3.183,1.918,,,,,,,,,,,,0.833131
72,P51801,A,D,349,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,1804,6716,ENSG00000184908,ENST00000375679,CCDS168.1,CLCNKB,0.51,probably_damaging,1,deleterious,0,4.14189,21.4,P51801_A349D,A,D,349,AD,A349D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.164,-3.504,2.34,,,,,,1.603,,49.93,0.000550956,0,0.0187887,0.851869
74,P51801,R,C,438,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,600,5585,ENSG00000184908,ENST00000375679,CCDS168.1,CLCNKB,0.64,probably_damaging,0.999,deleterious,0.02,3.42382,17.58,P51801_R438C,R,C,438,RC,R438C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.331,-4.958,3.627,,,,,,0.226,,24.16,0.00138575,0,0.0472571,0.762306
96,Q9BXM7,P,L,399,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,3069,2740,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.69,probably_damaging,0.98,deleterious,0.03,5.21482,33,Q9BXM7_P399L,P,L,399,PL,P399L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.00220803,0,0.0752984,0.792295
110,P05186,F,L,250,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,698,3951,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.56,probably_damaging,0.998,deleterious,0,4.90988,28.3,P05186_F250L,F,L,250,FL,F250L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.00345528,0.00364964,0.117832,0.958274
111,P05186,G,D,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,1258,1996,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.57,probably_damaging,0.999,deleterious,0,2.69779,14.98,P05186_G257D,G,D,257,GD,G257D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00363386,0,0.123922,0.951954
113,P05186,Y,H,359,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,2160,1094,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.8,benign,0.088,tolerated,0.48,1.60895,11.34,P05186_Y359H,Y,H,359,YH,Y359H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.00275326,0,0.093892,0.964412
144,Q9NZV5,X,G,462,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.62,0.04,,,,,,,,,61,3202,ENSG00000162430,ENST00000361547,CCDS41282.1,SEPN1,0.78,,,,,3.00205,16.01,Q9NZV5_X462G,X,G,462,XG,X462G,Stop,Special,5.71,3.29,-2.42,132.5,75,-57.5,141.9,60.1,-81.8,,,,,,,,,,,,,0.00382241,0,0.130352,0.931816
149,O75056,T,I,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,0.009,0.018,0.004,0.18,0.55,0.12,0.03,0.02,4268,1338,ENSG00000162512,ENST00000336798,,SDC3,0.71,possibly_damaging,0.825,tolerated,0.2,3.87025,19.67,O75056_T271I,T,I,271,TI,T271I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,,,,0.9508
162,O75712,R,P,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.16,,,,,,,,,2609,1478,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.16,possibly_damaging,0.878,deleterious,0.04,2.23359,13.43,O75712_R42P,R,P,42,RP,R42P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.833,-3.8,1.967,,,,,,1.878,,85.56,,,,0.836979
183,P56696,E,K,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,452,19108,ENSG00000117013,ENST00000509682,,KCNQ4,0.41,probably_damaging,0.907,deleterious,0.02,5.60704,36,P56696_E260K,E,K,260,EK,E260K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.000210501,0,0.00717853,0.918158
184,P56696,D,V,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,459,19101,ENSG00000117013,ENST00000509682,,KCNQ4,0.41,benign,0.161,deleterious,0.01,3.81428,19.37,P56696_D262V,D,V,262,DV,D262V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.306,-3.484,2.178,,,,,,1.8,,57.55,0.00109909,0,0.0374813,0.85097
202,P11166,K,E,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,1432,347,ENSG00000117394,ENST00000439722,,SLC2A1,0.64,possibly_damaging,0.72,deleterious,0.02,4.69772,26,P11166_K161E,K,E,161,KE,K161E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.000279864,0,0.00954392,0.993678
203,P11166,E,D,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,1407,372,ENSG00000117394,ENST00000439722,,SLC2A1,0.61,probably_damaging,1,deleterious,0,2.34797,13.81,P11166_E152D,E,D,152,ED,E152D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,,,,,,,,,,,,0.0015316,0,0.0522308,0.916523
255,P23786,R,C,503,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,2595,725,ENSG00000157184,ENST00000371486,CCDS575.1,CPT2,0.76,probably_damaging,1,deleterious,0,3.39932,17.48,P23786_R503C,R,C,503,RC,R503C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.06,.,b,1.66,-0.81,,,,0.000815721,0,0.0278178,0.477249
261,Q8WZ55,M,L,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.62,0.09,,,,,,,,,254,11697,ENSG00000162399,ENST00000371265,CCDS602.1,BSND,0,possibly_damaging,0.886,deleterious,0,4.694,26,Q8WZ55_M1L,M,L,1,ML,M1L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-1.296,-2.314,1.018,,,,,,,,,0.00215037,0,0.073332,0.930043
262,Q8WZ55,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.62,0.09,,,,,,,,,256,11695,ENSG00000162399,ENST00000371265,CCDS602.1,BSND,0,probably_damaging,0.948,deleterious,0,4.39684,23.3,Q8WZ55_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.296,-2.966,1.67,,,,,,,,,0.00215037,0,0.073332,0.907338
266,Q8WZ55,G,R,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,0,0,0,,,,,,392,11559,ENSG00000162399,ENST00000371265,CCDS602.1,BSND,0.15,probably_damaging,0.992,tolerated,0.11,3.03819,16.14,Q8WZ55_G47R,G,R,47,GR,G47R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.389,-3.889,2.5,,,,,,1.349,,34.06,0.0017477,0,0.0596002,0.805719
302,Q99684,K,R,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,0,0,0,,,,,,7865,1326,ENSG00000162676,ENST00000370332,CCDS30773.1,GFI1,0.95,possibly_damaging,0.563,deleterious,0.04,4.16513,21.5,Q99684_K403R,K,R,403,KR,K403R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.325,-3.024,1.699,,,,,,0.91,,22.99,0.0102758,0,0.350426,0.847765
340,O95076,Y,X,181,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,5975,4644,ENSG00000156150,ENST00000369792,CCDS819.1,ALX3,0.53,,,,,3.88924,19.77,O95076_Y181X,Y,X,181,YX,Y181X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
377,#N/A,A,S,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,0.001,,,,0.001,1625,469,ENSG00000143140,ENST00000271348,CCDS929.1,GJA5,0.27,probably_damaging,0.974,deleterious,0,4.87707,27.9,#N/A_A96S,A,S,96,AS,A96S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,,,,,,,,,,,,,,,0.949982
382,P48165,P,S,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.2,,,,,,,,,261,1041,ENSG00000121634,ENST00000240986,CCDS30834.1,GJA8,0.2,probably_damaging,1,deleterious,0,4.77415,26.8,P48165_P88S,P,S,88,PS,P88S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.966,-3.203,2.237,,,,,,,,,0.000195229,0,0.00665772,0.837228
390,Q16610,F,I,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,1687,158,ENSG00000143369,ENST00000369049,CCDS55632.1,ECM1,0.34,probably_damaging,0.999,deleterious,0,4.42701,23.5,Q16610_F194I,F,I,194,FI,F194I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,,,,,,,,,,,,,,,0.940953
391,Q16610,Q,X,373,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,3677,638,ENSG00000143369,ENST00000369049,CCDS55632.1,ECM1,0.66,,,,,4.55953,24.7,Q16610_Q373X,Q,X,373,QX,Q373X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
401,P20930,R,X,501,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,0.014,0.006,0.018,0.01,,0.01,,0.01,75,11210,ENSG00000143631,ENST00000368799,CCDS30860.1,FLG,0.12,,,,,4.92216,28.5,P20930_R501X,R,X,501,RX,R501X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
414,Q9P2X0,L,S,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,421,96,ENSG00000179085,ENST00000341298,CCDS1095.1,DPM3,0.92,possibly_damaging,0.877,deleterious,0,5.06058,31,Q9P2X0_L85S,L,S,85,LS,L85S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.178,-3.481,2.303,,,,,,1.61,,63.93,0.0159471,0,0.543828,0.755754
421,P02545,E,K,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,3890,3754,ENSG00000160789,ENST00000392353,,LMNA,0.13,probably_damaging,0.978,deleterious,0,5.79384,36,P02545_E64K,E,K,64,EK,E64K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.0015344,0,0.052326,0.912331
425,P02545,D,N,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,32,108,ENSG00000160789,ENST00000392353,,LMNA,0.3,probably_damaging,0.996,deleterious,0,5.46868,35,P02545_D149N,D,N,149,DN,D149N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00188259,0,0.0642002,0.983886
436,P02545,Q,X,412,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,446,251,ENSG00000160789,ENST00000392353,,LMNA,0.84,,,,,5.39577,34,P02545_Q412X,Q,X,412,QX,Q412X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00280546,0.00793651,0.0956718,0.955443
450,P04629,H,Y,568,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.01,0.044,0.012,0.06,0.02,,0.03,,0.04,876,2517,ENSG00000198400,ENST00000392302,CCDS30890.1,NTRK1,0.75,probably_damaging,0.955,deleterious,0,4.32329,22.7,P04629_H568Y,H,Y,568,HY,H568Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,0.00106676,0,0.0363788,0.92415
485,P50993,P,L,979,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,225,324,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.96,probably_damaging,0.98,deleterious,0,4.90948,28.3,P50993_P979L,P,L,979,PL,P979L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.236,-3.265,2.029,0.143,.,b,1.07,0.17,,,,0.00172527,0,0.0588354,0.653435
490,P50336,G,R,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,215,506,ENSG00000143224,ENST00000367999,CCDS1221.1,PPOX,0.49,probably_damaging,1,deleterious,0,4.5316,24.4,P50336_G232R,G,R,232,GR,G232R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,.,g,0.91,-0.84,,,,0.000908549,0,0.0309834,0.509837
496,P25189,G,R,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,42,545,ENSG00000158887,ENST00000360451,,MPZ,0.69,possibly_damaging,0.893,deleterious,0.01,5.48355,35,P25189_G177R,G,R,177,GR,G177R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00403056,0,0.137451,0.945499
513,P25189,S,F,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,168,1435,ENSG00000158887,ENST00000360451,,MPZ,0.28,probably_damaging,0.992,deleterious,0,4.93131,28.6,P25189_S73F,S,F,73,SF,S73F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.00401871,0,0.137046,0.942247
514,P25189,S,C,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,168,1435,ENSG00000158887,ENST00000360451,,MPZ,0.28,probably_damaging,0.986,deleterious,0,4.79685,27.1,P25189_S73C,S,C,73,SC,S73C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,,,,,,,,,,,,0.00401871,0,0.137046,0.963025
515,P25189,I,M,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,166,1437,ENSG00000158887,ENST00000360451,,MPZ,0.28,possibly_damaging,0.579,tolerated,0.06,3.38806,17.43,P25189_I72M,I,M,72,IM,I72M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,,,,,,,,,,,,0.003836,0,0.130815,0.979184
517,P25189,D,H,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,158,1445,ENSG00000158887,ENST00000360451,,MPZ,0.27,possibly_damaging,0.832,deleterious,0.05,4.35384,22.9,P25189_D70H,D,H,70,DH,D70H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,,,,,,,,,,,,0.00331926,0,0.113194,0.964243
518,P25189,S,F,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,111,1492,ENSG00000158887,ENST00000360451,,MPZ,0.21,probably_damaging,0.998,deleterious,0,4.99147,29.3,P25189_S54F,S,F,54,SF,S54F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.348,-3.803,2.455,0.328,.,B,0.85,-0.21,,,,0.00233933,0,0.0797758,0.668522
519,P25189,D,Y,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,83,1520,ENSG00000158887,ENST00000360451,,MPZ,0.17,possibly_damaging,0.822,tolerated,0.07,4.72433,26.3,P25189_D45Y,D,Y,45,DY,D45Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.00460812,0,0.157146,0.924206
690,P00797,R,X,387,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,11245,259,ENSG00000143839,ENST00000272190,CCDS30981.1,REN,0.95,,,,,5.18611,32,P00797_R387X,R,X,387,RX,R387X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00473069,0,0.161326,0.93732
695,Q13751,Q,X,936,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,244,1974,ENSG00000196878,ENST00000356082,CCDS1487.1,LAMB3,0.8,,,,,9.68721,42,Q13751_Q936X,Q,X,936,QX,Q936X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000401938,0,0.0137069,0.98231
708,O14896,R,C,6,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.03,,,,,,,,,769,10672,ENSG00000117595,ENST00000456314,,IRF6,0.02,probably_damaging,0.999,deleterious,0,5.03914,29.8,O14896_R6C,R,C,6,RC,R6C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.543,-4.898,3.355,,,,,,0.366,,41.76,0.00176237,0.0021692,0.0601005,0.77321
709,O14896,A,V,2,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.03,,,,,,,,,758,10683,ENSG00000117595,ENST00000456314,,IRF6,0.01,benign,0.402,deleterious,0.02,4.24325,22.1,O14896_A2V,A,V,2,AV,A2V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.635,-2.101,0.466,,,,,,11.242,11.242,65.74,0.00119772,0,0.0408449,1.00743
739,P68133,I,L,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.16,,,,,,,,,2537,308,ENSG00000143632,ENST00000366683,,ACTA1,0.94,probably_damaging,0.913,,,3.02344,16.09,P68133_I271L,I,L,271,IL,I271L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,0.00074359,0,0.0253579,1.0027
803,Q96P20,A,V,441,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,5970,1028,ENSG00000162711,ENST00000366496,CCDS44346.1,NLRP3,0.45,possibly_damaging,0.602,deleterious,0,1.70951,11.68,Q96P20_A441V,A,V,441,AV,A441V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.663,-3.244,1.581,,,,,,3.346,,81.18,0.00102618,0,0.034995,0.971523
822,Q96SD1,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.62,0.16,,,,,,,,,10,19286,ENSG00000152457,ENST00000378278,CCDS31149.1,DCLRE1C,0,probably_damaging,0.974,deleterious,0,4.27891,22.4,Q96SD1_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.296,-3.277,1.981,,,,,,,,,0.0014295,0,0.0487489,0.76774
843,P07949,A,G,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,37440,75,ENSG00000165731,ENST00000498820,,RET,0.87,benign,0.012,tolerated,0.22,0.821209,8.307,P07949_A157G,A,G,157,AG,A157G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,,,,,,,,,,,,0.000201032,0,0.00685559,0.993678
857,P28329,L,P,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,4787,688,ENSG00000070748,ENST00000395562,CCDS44389.1,CHAT,0.19,probably_damaging,1,deleterious,0,4.7336,26.4,P28329_L128P,L,P,128,LP,L128P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.0021118,0.00322581,0.0720168,0.964361
858,P28329,P,A,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,4789,690,ENSG00000070748,ENST00000395562,CCDS44389.1,CHAT,0.19,probably_damaging,0.985,deleterious,0.04,4.94637,28.7,P28329_P129A,P,A,129,PA,P129A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,,,,,,,,,,,,0.00192492,0.00161551,0.0656437,0.984406
862,P28329,R,G,364,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,35135,15536,ENSG00000070748,ENST00000351556,CCDS7233.1,CHAT,0.58,probably_damaging,0.979,deleterious,0,3.64487,18.53,P28329_R364G,R,G,364,RG,R364G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00176955,0,0.0603455,0.916474
863,P28329,S,L,380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,35184,15487,ENSG00000070748,ENST00000351556,CCDS7233.1,CHAT,0.6,probably_damaging,0.988,deleterious,0.01,3.84881,19.55,P28329_S380L,S,L,380,SL,S380L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00182963,0,0.062394,0.958294
911,Q9H251,F,S,1891,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,388114,30846,ENSG00000107736,ENST00000224721,,CDH23,0.56,possibly_damaging,0.873,deleterious,0,4.22153,21.9,Q9H251_F1891S,F,S,1891,FS,F1891S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,,,,,,,,,,,,,,,0.899145
912,Q9H251,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.62,0.04,,,,,,,,,393477,25483,ENSG00000107736,ENST00000224721,,CDH23,,,,,,4.76654,26.7,Q9H251_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
925,Q7LGC8,R,W,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.17,,,,,,,,,43330,5870,ENSG00000122863,ENST00000373115,CCDS7312.1,CHST3,0.46,probably_damaging,0.999,tolerated,0.18,2.65249,14.83,Q7LGC8_R222W,R,W,222,RW,R222W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,0.00250854,0,0.0855465,0.779832
939,Q00266,L,P,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,146,2119,ENSG00000151224,ENST00000372213,CCDS7365.1,MAT1A,0.77,probably_damaging,0.999,deleterious,0,4.27005,22.3,Q00266_L305P,L,P,305,LP,L305P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,H,A,1.07,-1.59,,,,0.00403575,0,0.137627,0.538705
945,O75112,T,I,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,13039,18311,ENSG00000122367,ENST00000372056,CCDS53549.1,LDB3,0.52,possibly_damaging,0.718,deleterious,0.04,4.46632,23.9,O75112_T206I,T,I,206,TI,T206I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.463,-3.828,2.365,,,,,,3.587,,69.88,0.000705565,0,0.0240612,0.891879
1166,F8WCM5,F,C,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,143,977,ENSG00000129965,ENST00000397270,CCDS41598.1,INS-IGF2,0.24,probably_damaging,0.915,deleterious,0,3.5651,18.17,F8WCM5_F48C,F,C,48,FC,F48C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.202,-4.712,3.51,,,,,,0.657,,43.5,0.00432719,0,0.147566,0.784216
1167,F8WCM5,G,V,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,140,980,ENSG00000129965,ENST00000397270,CCDS41598.1,INS-IGF2,0.23,probably_damaging,0.98,deleterious,0,3.51812,17.97,F8WCM5_G47V,G,V,47,GV,G47V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.763,-3.609,2.846,,,,,,,,,0.00323444,0,0.110301,0.762244
1168,P01308,R,Q,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,137,983,ENSG00000254647,ENST00000421783,,INS,0.5,possibly_damaging,0.569,deleterious,0,3.50695,17.92,P01308_R46Q,R,Q,46,RQ,R46Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.348,-3.515,2.167,,,,,,2.123,,69.09,0.0112587,0,0.383946,0.822368
1239,P17405,L,X,262,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,25,190,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.42,,,,,6.6695,38,P17405_L262X,L,X,262,LX,L262X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.0033577,0,0.114505,0.957014
1270,Q14654,P,L,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,581,40,ENSG00000187486,ENST00000528731,CCDS53606.1,KCNJ11,0.55,probably_damaging,1,deleterious,0,4.45499,23.8,Q14654_P167L,P,L,167,PL,P167L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00191898,0,0.0654412,0.966041
1271,Q14654,V,A,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,587,34,ENSG00000187486,ENST00000528731,CCDS53606.1,KCNJ11,0.54,possibly_damaging,0.814,deleterious,0,4.38487,23.2,Q14654_V165A,V,A,165,VA,V165A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,,,,,,,,,,,,0.000308119,0,0.0105075,0.990573
1272,Q14654,R,L,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,740,120,ENSG00000187486,ENST00000526912,,KCNJ11,0.74,probably_damaging,1,deleterious,0,4.47576,23.9,Q14654_R114L,R,L,114,RL,R114L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00308994,0,0.105373,0.954803
1280,Q14654,R,P,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,717,300,ENSG00000187486,ENST00000528992,,KCNJ11,0.36,probably_damaging,0.967,deleterious,0.01,3.91697,19.92,Q14654_R56P,R,P,56,RP,R56P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00162309,0,0.0553507,0.886701
1389,Q9Y5Y5,R,X,176,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.05,,,,,,,,,925,355,ENSG00000121680,ENST00000241041,CCDS7917.1,PEX16,0.51,,,,,5.16451,32,Q9Y5Y5_R176X,R,X,176,RX,R176X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1390,P00734,E,K,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,0.002,0,0.002,0.001,,,,0.003,2717,168,ENSG00000180210,ENST00000530231,,F2,0.34,benign,0.001,tolerated,0.89,-0.678685,1.041,P00734_E200K,E,K,200,EK,E200K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-2.346,-2.13,-0.216,,,,,,21.07,21.07,82.96,0.0017483,0.00473934,0.0596206,1.01668
1406,Q14896,E,X,1096,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,19465,1832,ENSG00000134571,ENST00000545968,CCDS53621.1,MYBPC3,0.86,,,,,7.3168,39,Q14896_E1096X,E,X,1096,EX,E1096X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00169958,0,0.0579592,0.914073
1411,Q96H72,G,D,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,230,1725,ENSG00000165915,ENST00000354884,CCDS7934.1,SLC39A13,0.2,probably_damaging,0.996,deleterious,0,4.50262,24.2,Q96H72_G74D,G,D,74,GD,G74D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.063,-3.368,2.305,,,,,,2.181,,74.66,0.00139558,0,0.047592,0.861425
1419,Q13702,V,M,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,222,10348,ENSG00000165917,ENST00000352508,CCDS7937.1,RAPSN,0.13,probably_damaging,0.927,deleterious,0.02,5.00323,29.4,Q13702_V45M,V,M,45,VM,V45M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.304,-3.765,2.461,,,,,,,,,0.00147435,0,0.0502784,0.75528
1425,P05155,A,T,458,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,3219,80,ENSG00000149131,ENST00000278407,CCDS7962.1,SERPING1,0.92,probably_damaging,0.998,deleterious,0,3.68351,18.72,P05155_A458T,A,T,458,AT,A458T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-0.949,-3.052,2.103,,E,B,0.22,-0.64,,,,0.00986907,0,0.336555,0.643137
1426,P05155,A,V,465,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,3241,58,ENSG00000149131,ENST00000278407,CCDS7962.1,SERPING1,0.93,probably_damaging,0.968,deleterious,0.01,3.05629,16.2,P05155_A465V,A,V,465,AV,A465V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.075,-3.088,2.013,0.126,.,B,0.44,-0.89,1.695,,69,0.00845916,0,0.288475,0.63995
1427,P05155,R,S,466,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,3243,56,ENSG00000149131,ENST00000278407,CCDS7962.1,SERPING1,0.93,probably_damaging,1,deleterious,0,3.1736,16.62,P05155_R466S,R,S,466,RS,R466S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.101,-3.241,2.14,0.551,.,B,0.93,0.98,,,,0.00780188,0,0.26606,0.737715
1428,P05155,R,C,466,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,3243,56,ENSG00000149131,ENST00000278407,CCDS7962.1,SERPING1,0.93,probably_damaging,1,deleterious,0,3.07841,16.28,P05155_R466C,R,C,466,RC,R466C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.101,-4.943,3.842,0.551,.,B,1.66,0.98,,,,0.00780188,0,0.26606,0.660243
1429,P05155,R,H,466,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,3244,55,ENSG00000149131,ENST00000278407,CCDS7962.1,SERPING1,0.93,probably_damaging,0.999,deleterious,0,3.30568,17.11,P05155_R466H,R,H,466,RH,R466H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,0.551,.,B,1.03,0.98,,,,0.00780188,0,0.26606,0.72502
1453,Q86UX7,R,X,509,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,187,51,ENSG00000149781,ENST00000345728,CCDS8059.1,FERMT3,0.77,,,,,5.88165,36,Q86UX7_R509X,R,X,509,RX,R509X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1474,O00255,W,X,441,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,916,50,ENSG00000133895,ENST00000443283,CCDS8083.1,MEN1,0.72,,,,,6.11153,37,O00255_W441X,W,X,441,WX,W441X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000827099,0,0.0282058,0.956807
1477,O00255,Q,X,265,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.04,,,,,,,,,2576,5,ENSG00000133895,ENST00000443283,CCDS8083.1,MEN1,0.43,,,,,5.19736,33,O00255_Q265X,Q,X,265,QX,Q265X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00140016,0,0.0477482,0.904853
1489,O95967,A,T,397,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,20,82,ENSG00000172638,ENST00000307998,CCDS8116.1,EFEMP2,0.9,probably_damaging,0.968,deleterious,0,5.17551,32,O95967_A397T,A,T,397,AT,A397T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.38,-3.582,2.202,,,,,,3.3,,78.78,0.00557822,0,0.190229,0.867633
1493,O95967,E,V,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,554,433,ENSG00000172638,ENST00000307998,CCDS8116.1,EFEMP2,0.28,probably_damaging,0.949,deleterious,0,5.10539,32,O95967_E126V,E,V,126,EV,E126V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,-0.954,-3.731,2.777,,,,,,4.045,,89.16,0.00132607,0,0.0452217,0.8588
1496,#N/A,E,K,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,0.034,0.1,0.001,0.02,,0.003,0.09,,42,20,ENSG00000256349,ENST00000419755,,CTD-3074O7.11,0.43,possibly_damaging,0.898,tolerated,0.09,5.43642,35,#N/A_E271K,E,K,271,EK,E271K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
1502,P11498,S,X,705,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.12,,,,,,,,,808,295,ENSG00000173599,ENST00000393960,CCDS8152.1,PC,0.6,,,,,7.39332,39,P11498_S705X,S,X,705,SX,S705X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00063143,0,0.0215331,0.980409
1518,P49821,E,K,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,117,50,ENSG00000167792,ENST00000532244,,NDUFV1,0.83,probably_damaging,0.974,deleterious,0,5.3831,34,P49821_E113K,E,K,113,EK,E113K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00132795,0,0.0452859,0.913069
1519,P49821,A,V,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,0,0,0,,,,,,43,457,ENSG00000167792,ENST00000322776,CCDS8173.1,NDUFV1,0.73,benign,0.197,deleterious,0.01,2.68462,14.94,P49821_A341V,A,V,341,AV,A341V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.583,-3.198,1.615,,,,,,2.629,,80.82,0.00476303,0,0.162429,0.959225
1539,O75197,R,Q,494,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,77265,59324,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.31,probably_damaging,0.99,deleterious,0,5.1777,32,O75197_R494Q,R,Q,494,RQ,R494Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,,,,,,,,,0.000102905,0,0.00350926,0.917655
1548,O75197,R,G,752,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,47,3120,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.47,probably_damaging,1,deleterious,0,4.06207,20.9,O75197_R752G,R,G,752,RG,R752G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.398,-3.094,1.696,0.261,.,B,0.91,-0.92,,,,0.000106694,0,0.00363848,0.782566
1558,P50416,G,E,709,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,55263,2628,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.92,probably_damaging,0.999,deleterious,0,4.14895,21.4,P50416_G709E,G,E,709,GE,G709E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.082,-3.354,2.272,,,,,,2.403,,46.05,0.00243066,0,0.0828907,0.838932
1570,P50416,R,W,357,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,14360,836,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.46,probably_damaging,0.985,deleterious,0.03,4.24104,22.1,P50416_R357W,R,W,357,RW,R357W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.442,-5.093,3.651,,,,,,0.341,,46.05,0.00129652,0,0.0442141,0.825915
1577,P50416,Q,X,100,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.12,,,,,,,,,7882,55,ENSG00000110090,ENST00000569129,,CPT1A,0.85,,,,,3.26993,16.97,P50416_Q100X,Q,X,100,QX,Q100X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00125859,0,0.0429207,0.904853
1588,P11487,R,X,104,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.12,,,,,,,,,2691,6110,ENSG00000186895,ENST00000334134,CCDS8195.1,FGF3,0.44,,,,,5.98834,37,P11487_R104X,R,X,104,RX,R104X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00577727,0,0.197017,0.922719
1603,Q9UBM7,L,P,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,4061,17,ENSG00000172893,ENST00000525346,,DHCR7,0.92,possibly_damaging,0.839,deleterious,0,3.72006,18.89,Q9UBM7_L99P,L,P,99,LP,L99P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.536,-3.945,2.409,,,,,,1.317,,88.84,0.00321184,0,0.10953,0.860839
1604,Q9UBM7,Q,X,98,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,0,0,0,,,,,,4057,13,ENSG00000172893,ENST00000525346,,DHCR7,0.91,,,,,3.29209,17.06,Q9UBM7_Q98X,Q,X,98,QX,Q98X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00317232,0,0.108183,0.955443
1614,Q8WZ04,W,R,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,370,214,ENSG00000184154,ENST00000435085,CCDS44668.1,LRTOMT,0.36,probably_damaging,0.98,deleterious,0,4.43392,23.6,Q8WZ04_W105R,W,R,105,WR,W105R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.536,-3.992,2.456,,,,,,1.44,,50.17,0.00581501,0,0.198304,0.805886
1623,Q13402,C,X,31,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,14481,42213,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.03,,,,,5.76975,36,Q13402_C31X,C,X,31,CX,C31X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
1626,Q13402,T,M,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,28381,28313,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.14,probably_damaging,1,deleterious,0,4.23173,22,Q13402_T165M,T,M,165,TM,T165M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-0.765,-4.579,3.814,,,,,,0.89,,50.29,,,,0.775902
1635,Q13402,R,X,634,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,21,12146,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.54,,,,,10.8993,44,Q13402_R634X,R,X,634,RX,R634X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1636,Q13402,R,X,666,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.16,,,,,,,,,1987,10180,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.57,,,,,9.73525,42,Q13402_R666X,R,X,666,RX,R666X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1637,Q13402,R,X,669,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.16,0,0,0,,,,,,1996,10171,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.57,,,,,9.67276,42,Q13402_R669X,R,X,669,RX,R669X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1662,Q9ULV1,H,Y,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,0,0,0,0.01,0.01,0.003,0.01,0.01,511,9202,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.13,benign,0.256,deleterious,0,3.37807,17.39,Q9ULV1_H69Y,H,Y,69,HY,H69Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.593,-3.294,1.701,,,,,,1.154,,73.56,0.0011326,0,0.0386239,0.956606
1748,O14521,W,X,5,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,3,1772,ENSG00000204370,ENST00000528182,,SDHD,0.04,,,,,2.38862,13.95,O14521_W5X,W,X,5,WX,W5X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00539576,0,0.184006,0.909605
1787,P02647,W,R,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,275,641,ENSG00000118137,ENST00000375329,,APOA1,0.21,probably_damaging,0.955,deleterious,0.02,3.85126,19.56,P02647_W52R,W,R,52,WR,W52R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,,,,,,,,,,,,0.00669956,0,0.228469,0.931094
1791,P02647,P,R,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,0,0,0,,,,,,469,1367,ENSG00000118137,ENST00000236850,CCDS8378.1,APOA1,0.1,probably_damaging,0.999,deleterious,0,1.67958,11.58,P02647_P28R,P,R,28,PR,P28R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.248,-3.732,2.484,0.564,.,A,0.68,0,6.102,,56.93,0.00512245,0,0.174686,0.670247
1820,P08397,R,Q,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,107,95,ENSG00000256269,ENST00000539986,,HMBS,0.83,probably_damaging,0.999,deleterious,0,6.21299,37,P08397_R156Q,R,Q,156,RQ,R156Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.826,-3.512,1.686,,,,,,3.938,,81.99,0.00509057,0,0.173599,0.966341
1821,P08397,L,R,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,95,83,ENSG00000256269,ENST00000539986,,HMBS,0.86,probably_damaging,1,deleterious,0,5.31213,34,P08397_L160R,L,R,160,LR,L160R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.00445776,0,0.152019,0.940938
1822,P08397,W,X,181,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.05,,,,,,,,,32,20,ENSG00000256269,ENST00000539986,,HMBS,0.97,,,,,9.59819,42,P08397_W181X,W,X,181,WX,W181X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00590745,0,0.201456,0.897383
1823,P08397,R,W,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,24,12,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.53,probably_damaging,1,deleterious,0,4.14128,21.4,P08397_R184W,R,W,184,RW,R184W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00449765,0,0.153379,0.949455
1826,P08397,L,R,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,126,15,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.66,probably_damaging,0.976,tolerated,0.22,4.43956,23.6,P08397_L228R,L,R,228,LR,L228R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.00252263,0,0.0860267,0.961063
1827,P08397,C,R,230,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,121,10,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.67,probably_damaging,0.983,deleterious,0,4.87986,28,P08397_C230R,C,R,230,CR,C230R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00571536,0,0.194905,0.913174
1828,P08397,E,K,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,112,1,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.68,probably_damaging,0.93,deleterious,0,6.12186,37,P08397_E233K,E,K,233,EK,E233K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00619522,0,0.21127,0.932683
1829,P08397,A,T,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,106,6,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.68,possibly_damaging,0.445,deleterious,0.03,5.03311,29.8,P08397_A235T,A,T,235,AT,A235T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00440491,0,0.150216,0.958098
1830,P08397,A,V,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,105,7,ENSG00000256269,ENST00000392841,CCDS41726.1,HMBS,0.68,benign,0.153,deleterious,0.02,4.79779,27.1,P08397_A235V,A,V,235,AV,A235V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00440491,0,0.150216,0.955729
1879,Q7Z3S7,Y,X,802,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,0.001,0.001,0.001,,,,,,9572,41,ENSG00000151062,ENST00000280663,,CACNA2D4,0.82,,,,,7.6288,39,Q7Z3S7_Y802X,Y,X,802,YX,Y802X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
1881,Q13936,G,R,490,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,0,0,0.001,,,,,,45584,16563,ENSG00000151067,ENST00000399644,CCDS44798.1,CACNA1C,0.23,possibly_damaging,0.663,tolerated,0.2,3.98311,20.4,Q13936_G490R,G,R,490,GR,G490R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.616,-3.734,2.118,,,,,,3.34,,77.4,,,,0.856435
1889,Q09470,F,C,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.17,,,,,,,,,1552,6319,ENSG00000111262,ENST00000382545,CCDS8535.1,KCNA1,0.37,probably_damaging,0.995,deleterious,0,3.81878,19.39,Q09470_F184C,F,C,184,FC,F184C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.351,-4.598,3.247,0.254,H,A,0.12,0.21,,,,0.000269356,0,0.00918561,0.731868
1902,P22460,E,X,375,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.05,,,,,,,,,1351,1514,ENSG00000130037,ENST00000252321,CCDS8536.1,KCNA5,0.61,,,,,7.19938,38,P22460_E375X,E,X,375,EX,E375X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000570652,0,0.0194604,0.980139
1903,P22460,T,M,527,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,0.001,0.01,,,,1808,1057,ENSG00000130037,ENST00000252321,CCDS8536.1,KCNA5,0.86,possibly_damaging,0.693,deleterious,0.04,3.81078,19.35,P22460_T527M,T,M,527,TM,T527M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.067,-4.297,3.23,,,,,,,,,0.000340488,0,0.0116113,0.816274
1904,P22460,A,V,576,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,1955,910,ENSG00000130037,ENST00000252321,CCDS8536.1,KCNA5,0.94,benign,0.002,tolerated,1,-2.77967,0,P22460_A576V,A,V,576,AV,A576V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-2.033,-2.49,0.457,,,,,,23.146,23.146,89.23,0.00679195,0,0.231619,0.972554
1912,P04275,R,W,1597,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,3298,900,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.57,probably_damaging,1,deleterious,0,3.32887,17.2,P04275_R1597W,R,W,1597,RW,R1597W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.535,-5.436,3.901,0.209,.,B,1.67,0.1,0.333,,92.11,7.42e-05,0,0.00253005,0.713821
1957,Q9GZX7,W,R,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,1613,1119,ENSG00000111732,ENST00000537228,,AICDA,0.43,probably_damaging,0.999,deleterious,0.01,4.41625,23.4,Q9GZX7_W80R,W,R,80,WR,W80R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.198,-3.935,2.737,,,,,,,,,0.00545794,0,0.186127,0.745226
2005,P11473,R,C,391,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,60145,389,ENSG00000111424,ENST00000229022,CCDS8757.1,VDR,0.92,probably_damaging,0.999,deleterious,0,4.21348,21.9,P11473_R391C,R,C,391,RC,R391C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.00476846,0,0.162614,0.723088
2011,P11473,Q,X,120,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,25424,137,ENSG00000111424,ENST00000535672,,VDR,0.3,,,,,5.01281,29.5,P11473_Q120X,Q,X,120,QX,Q120X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00222873,0,0.0760042,0.964034
2012,P11473,R,Q,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,0,0,0,,,,,,17851,7424,ENSG00000111424,ENST00000535672,,VDR,0.12,probably_damaging,0.95,deleterious,0.01,6.12567,37,P11473_R48Q,R,Q,48,RQ,R48Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000644086,0,0.0219646,0.995654
2013,P11473,R,Q,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,17830,7445,ENSG00000111424,ENST00000535672,,VDR,0.1,probably_damaging,1,deleterious,0,6.17163,37,P11473_R41Q,R,Q,41,RQ,R41Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00126774,0,0.0432327,0.918197
2030,P02458,R,C,904,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.03,,,,,,,,,8938,6127,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.61,,,deleterious,0,2.70494,15.01,P02458_R904C,R,C,904,RC,R904C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.721,-4.659,2.938,,,,,0,1.192,,65.37,1.35e-05,0,0.000460447,0.650268
2065,P41181,L,V,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,140,619,ENSG00000167580,ENST00000550862,,AQP2,0.09,benign,0.052,tolerated,0.09,1.90366,12.32,P41181_L22V,L,V,22,LV,L22V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.596,-2.001,0.405,0.672,H,A,0.11,-0.72,24.737,24.737,70.11,0.00483155,0,0.164766,0.949763
2069,P41181,T,M,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,1958,472,ENSG00000167580,ENST00000550862,,AQP2,0.51,benign,0.249,tolerated,0.06,1.95378,12.49,P41181_T125M,T,M,125,TM,T125M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.077,-3.153,1.076,0.036,S,B,0.77,0.51,8.308,8.308,70.11,0.00442945,0,0.151054,0.831774
2070,P41181,T,M,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,1955,469,ENSG00000167580,ENST00000550862,,AQP2,0.52,probably_damaging,0.952,deleterious,0,3.36648,17.35,P41181_T126M,T,M,126,TM,T126M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.746,-4.906,3.16,0.54,.,B,0.77,1.27,1.005,,23.99,0.00448185,0,0.15284,0.728629
2087,P37023,I,N,412,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,467,3141,ENSG00000139567,ENST00000550683,,ACVRL1,0.8,probably_damaging,1,deleterious,0,4.79335,27,P37023_I412N,I,N,412,IN,I412N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,,,,,,,,,,,,,,,0.928573
2107,P13647,E,K,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,628,134,ENSG00000186081,ENST00000548409,,KRT5,0.63,possibly_damaging,0.676,deleterious,0,5.34896,34,P13647_E126K,E,K,126,EK,E126K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.000318322,0,0.0108554,0.990301
2115,P13647,V,A,7,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,95,376,ENSG00000186081,ENST00000551275,,KRT5,0.05,,,deleterious,0.01,2.5808,14.59,P13647_V7A,V,A,7,VA,V7A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.969,-2.067,0.098,,,,,,23.909,23.909,86.61,0.000206516,0,0.00704261,1.01833
2116,P13647,S,X,5,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,89,382,ENSG00000186081,ENST00000551275,,KRT5,0.03,,,,,5.95775,36,P13647_S5X,S,X,5,SX,S5X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000209079,0,0.00713003,0.980409
2117,P35908,E,D,487,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,5417,2190,ENSG00000172867,ENST00000309680,CCDS8835.1,KRT2,0.76,probably_damaging,0.999,deleterious,0,3.4019,17.49,P35908_E487D,E,D,487,ED,E487D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-0.972,-2.669,1.697,,,,,,,,,,,,0.856811
2118,P35908,E,K,487,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,5415,2192,ENSG00000172867,ENST00000309680,CCDS8835.1,KRT2,0.76,probably_damaging,1,deleterious,0.01,5.13861,32,P35908_E487K,E,K,487,EK,E487K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.972,-2.882,1.91,,,,,,,,,,,,0.850404
2125,P04264,L,P,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,1192,603,ENSG00000167768,ENST00000252244,CCDS8836.1,KRT1,0.74,probably_damaging,1,deleterious,0,3.83632,19.48,P04264_L475P,L,P,475,LP,L475P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.941,-3.98,3.039,,,,,,,,,,,,0.755898
2138,Q9NRG9,S,P,103,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,0.001,,,,0.003,42,27,ENSG00000094914,ENST00000548931,,AAAS,0.29,probably_damaging,0.989,deleterious,0.01,5.11686,32,Q9NRG9_S103P,S,P,103,SP,S103P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,0.00130496,0,0.0445018,0.914987
2139,Q9NRG9,Q,K,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,0,0,0,,,,,,138,5871,ENSG00000094914,ENST00000547757,,AAAS,0.05,benign,0.027,tolerated,1,1.28337,10.19,Q9NRG9_Q15K,Q,K,15,QK,Q15K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,-1.605,-2.737,1.132,,,,,,2.367,,19.6,0.00101423,0,0.0345872,0.916562
2142,Q92781,R,W,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,0,0,0,,,,,,652,11,ENSG00000135437,ENST00000548082,CCDS31829.1,RDH5,0.49,probably_damaging,1,deleterious,0,2.84009,15.46,Q92781_R157W,R,W,157,RW,R157W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.32,-5.133,3.813,,,,,,0.44,,76.1,0.00163244,0,0.0556695,0.846373
2143,Q92781,V,G,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,713,72,ENSG00000135437,ENST00000548082,CCDS31829.1,RDH5,0.56,possibly_damaging,0.452,deleterious,0,2.45575,14.17,Q92781_V177G,V,G,177,VG,V177G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.695,-3.471,1.776,,,,,,2.002,,90.57,0.00552744,0,0.188497,0.919607
2174,Q8TAM1,V,G,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,70,852,ENSG00000179941,ENST00000393262,CCDS9014.2,BBS10,0.02,benign,0.042,deleterious,0,2.76738,15.21,Q8TAM1_V11G,V,G,11,VG,V11G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.465,-2.186,0.721,,,,,,12.552,12.552,93.08,0.00173188,0.00421348,0.0590608,0.96168
2246,Q03426,V,M,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,7209,1512,ENSG00000110921,ENST00000540353,,MVK,0.25,probably_damaging,1,deleterious,0,4.19911,21.8,Q03426_V29M,V,M,29,VM,V29M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00426905,0,0.145583,0.971869
2287,Q99593,Y,X,136,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,5224,3797,ENSG00000089225,ENST00000405440,CCDS9173.1,TBX5,0.26,,,,,6.64456,38,Q99593_Y136X,Y,X,136,YX,Y136X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00112627,0,0.0384081,0.902575
2305,P16219,R,W,325,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,12998,736,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.79,probably_damaging,1,deleterious,0,5.14111,32,P16219_R325W,R,W,325,RW,R325W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.154,H,A,1.67,-0.78,,,,0.00287157,0,0.0979263,0.536335
2329,Q9Y6H8,P,L,187,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,18321,4474,ENSG00000121743,ENST00000241125,CCDS9289.1,GJA3,0.43,probably_damaging,0.996,deleterious,0,4.54627,24.6,Q9Y6H8_P187L,P,L,187,PL,P187L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.024,-3.453,2.429,,,,,,2.047,,43.68,0.000295042,0,0.0100615,0.845921
2369,P52945,E,D,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.2,,,,,,,,,4321,1891,ENSG00000139515,ENST00000381033,CCDS9327.1,PDX1,0.58,probably_damaging,0.999,deleterious,0,4.09728,21.1,P52945_E164D,E,D,164,ED,E164D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.075,-2.611,1.536,,,,,,,,,0.00130622,0,0.0445447,0.839071
2426,P35670,N,S,840,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,0,0,0,,,,,,24346,2877,ENSG00000123191,ENST00000400370,,ATP7B,0.81,benign,0.002,deleterious,0,2.00351,12.66,P35670_N840S,N,S,840,NS,N840S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.000240824,0,0.00821258,0.993928
2427,P35670,G,R,836,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,0,0,0,,,,,,24333,2890,ENSG00000123191,ENST00000400370,,ATP7B,0.81,benign,0.016,deleterious,0,3.18171,16.65,P35670_G836R,G,R,836,GR,G836R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.687,-4.104,3.417,0.448,T,l,0.91,-0.99,2.792,,78.84,0.0001559,0,0.00531652,0.670626
2430,P35670,T,M,547,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,0,0,0,,,,,,150,2305,ENSG00000123191,ENST00000400370,,ATP7B,0.53,,,deleterious,0,3.48167,17.81,P35670_T547M,T,M,547,TM,T547M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00065934,0,0.0224848,0.993053
2483,P00742,E,K,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,0.002,0,0.003,0.001,,,0.002,0.001,452,3247,ENSG00000126218,ENST00000375559,CCDS9530.1,F10,0.29,benign,0.231,tolerated,0.72,0.212836,5.148,P00742_E142K,E,K,142,EK,E142K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.479,-3.192,1.713,,,,,,3.543,,65.37,0.0029197,0,0.0995677,0.943643
2525,P12883,R,W,719,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,9748,13233,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.37,possibly_damaging,0.89,deleterious,0,4.18616,21.7,P12883_R719W,R,W,719,RW,R719W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.715,-5.133,3.418,,,,,,0.402,,86.05,0.000116576,0,0.00397549,0.863933
2562,P22735,V,M,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,1072,3633,ENSG00000092295,ENST00000206765,CCDS9622.1,TGM1,0.47,probably_damaging,0.999,deleterious,0,3.64028,18.51,P22735_V383M,V,M,383,VM,V383M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.205,-3.9,2.695,,,,,,1.614,,43.7,0.00124106,0,0.0423228,0.840466
2586,P43699,W,L,238,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,1751,554,ENSG00000136352,ENST00000354822,CCDS41945.1,NKX2-1,0.59,probably_damaging,0.97,deleterious,0,4.33915,22.8,P43699_W238L,W,L,238,WL,W238L,Hydrophobic,Hydrophobic,5.89,9.71,3.82,204,131,-73,227.8,166.7,-61.1,61,,,,,,,,,,,,,,,0.916867
2589,P55771,L,P,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,380,190,ENSG00000198807,ENST00000402703,CCDS9662.1,PAX9,0.06,probably_damaging,0.992,deleterious,0,4.1982,21.8,P55771_L21P,L,P,21,LP,L21P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,0.255,.,B,1.07,-0.93,,,,0.000676614,0,0.0230739,0.629246
2644,Q15475,Y,C,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.21,,,,,,,,,659,2661,ENSG00000126778,ENST00000247182,CCDS9748.1,SIX1,0.45,probably_damaging,0.999,deleterious,0,4.75102,26.6,Q15475_Y129C,Y,C,129,YC,Y129C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.593,-4.723,3.13,,,,,,0.16,,18.31,0.00133044,0,0.0453707,0.74872
2712,Q9UKY4,R,X,169,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,213,36,ENSG00000009830,ENST00000556171,,POMT2,0.87,,,,,3.26343,16.95,Q9UKY4_R169X,R,X,169,RX,R169X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2822,O43548,G,C,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,0.003,0,0.005,0.001,,0.003,,0.003,6707,26993,ENSG00000104055,ENST00000220420,CCDS32212.1,TGM5,0.16,probably_damaging,1,deleterious,0,4.85734,27.7,O43548_G113C,G,C,113,GC,G113C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.922,-4.988,4.066,,,,,,0.189,,25.42,0.000264282,0,0.00901258,0.801175
2824,P61769,A,P,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,58,4776,ENSG00000166710,ENST00000558401,CCDS10113.1,B2M,0.09,benign,0.224,tolerated,0.17,2.17736,13.24,P61769_A11P,A,P,11,AP,A11P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.725,-3.849,2.124,,,,,,1.449,,84.87,0.00217473,0,0.0741627,0.90727
2856,P35555,G,E,985,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,155731,59215,ENSG00000166147,ENST00000316623,CCDS32232.1,FBN1,0.34,probably_damaging,0.999,deleterious,0,5.06853,31,P35555_G985E,G,E,985,GE,G985E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,,,,,,,,,,,,0.768586
2929,Q9Y3Q4,D,N,553,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.16,,,,,,,,,43887,5519,ENSG00000138622,ENST00000261917,CCDS10248.1,HCN4,0.46,,,tolerated,0.07,4.03216,20.7,Q9Y3Q4_D553N,D,N,553,DN,D553N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.28,-3.167,1.887,0.293,H,A,0.14,-0.9,2.225,,54.7,0.00102138,0,0.0348312,0.779217
2930,Q9Y3Q4,G,R,480,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,39540,9866,ENSG00000138622,ENST00000261917,CCDS10248.1,HCN4,0.4,,,deleterious,0,3.74741,19.03,Q9Y3Q4_G480R,G,R,480,GR,G480R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.000473908,0,0.0161612,0.78896
2937,P05108,A,V,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,353,68,ENSG00000140459,ENST00000358632,CCDS45303.1,CYP11A1,0.55,probably_damaging,0.97,deleterious,0.03,4.68366,25.9,P05108_A201V,A,V,201,AV,A201V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00217491,0,0.074169,0.975319
2939,P05108,L,W,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,11701,2692,ENSG00000140459,ENST00000433240,,CYP11A1,0.86,probably_damaging,0.998,deleterious,0,3.17215,16.61,P05108_L141W,L,W,141,LW,L141W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,-1.294,-4.69,3.396,0.161,T,A,0.08,-0.2,1.371,,76.58,0.00172026,0,0.0586646,0.723038
2947,O43586,A,T,229,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,2882,102,ENSG00000140368,ENST00000267939,,PSTPIP1,0.58,possibly_damaging,0.546,deleterious,0.04,3.78659,19.23,O43586_A229T,A,T,229,AT,A229T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,,,,0.956543
2976,P54098,Y,C,831,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,0.008,0.002,0.011,0.002,,,,0.01,1586,67,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.67,probably_damaging,0.948,tolerated,0.07,4.01086,20.6,P54098_Y831C,Y,C,831,YC,Y831C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-2.254,-4.027,1.773,,,,,,33.156,33.156,85.79,0.000809323,0,0.0275996,0.932882
3009,Q9UJJ9,R,X,89,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,355,365,ENSG00000090581,ENST00000529110,,GNPTG,0.48,,,,,2.95233,15.84,Q9UJJ9_R89X,R,X,89,RX,R89X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00390612,0,0.133207,0.951177
3024,P49815,R,Q,574,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,4342,964,ENSG00000103197,ENST00000439673,,TSC2,0.34,probably_damaging,0.989,deleterious,0.01,5.12157,32,P49815_R574Q,R,Q,574,RQ,R574Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
3029,P49815,Q,P,1400,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,1775,3727,ENSG00000103197,ENST00000439673,,TSC2,0.82,probably_damaging,0.985,deleterious,0,4.40075,23.3,P49815_Q1400P,Q,P,1400,QP,Q1400P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,,,,,,,,,,,,,,,0.952768
3045,Q99758,L,P,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,3698,2688,ENSG00000167972,ENST00000382381,,ABCA3,0.06,probably_damaging,0.968,deleterious,0,3.46238,17.73,Q99758_L101P,L,P,101,LP,L101P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.333,-4.049,2.716,,,,,,0.976,,88.09,,,,0.812066
3095,O95255,R,R,1418,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.62,0.09,0.009,0.003,0.012,0.01,,0.01,,0.01,5050,594,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.94,,,,,1.2647,10.13,O95255_R1418R,R,R,1418,RR,R1418R,PositiveCharge,PositiveCharge,6.34,6.34,0,174,174,0,173.4,173.4,0,0,,,,,,,,,,,,0.0012292,0,0.0419183,0.927496
3096,O95255,R,Q,1418,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,5049,595,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.94,possibly_damaging,0.889,deleterious,0.04,4.86165,27.8,O95255_R1418Q,R,Q,1418,RQ,R1418Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.072,-2.462,1.39,,,,,,11.899,11.899,47.57,0.0012292,0,0.0419183,0.955457
3123,O95255,R,X,1275,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,65713,7589,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.85,,,,,9.20833,42,O95255_R1275X,R,X,1275,RX,R1275X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000448694,0,0.0153014,0.977351
3126,O95255,W,X,1241,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,63940,9362,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.83,,,,,7.85914,39,O95255_W1241X,W,X,1241,WX,W1241X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000613789,0,0.0209315,0.956807
3127,O95255,Y,X,1239,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,63935,9367,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.82,,,,,7.89733,39,O95255_Y1239X,Y,X,1239,YX,Y1239X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000214981,0,0.00733129,0.970188
3128,O95255,Y,H,1239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,63933,9369,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.82,probably_damaging,0.999,deleterious,0,4.4208,23.5,O95255_Y1239H,Y,H,1239,YH,Y1239H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-0.841,-4.135,3.294,,,,,,0.867,,53.43,0.000214981,0,0.00733129,0.844099
3180,O95255,A,V,781,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,44564,28738,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.52,benign,0.09,deleterious,0,3.1358,16.48,O95255_A781V,A,V,781,AV,A781V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.868,-2.926,1.058,,,,,,21.639,21.639,62.48,0.000169556,0,0.00578221,0.962761
3181,O95255,D,N,777,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,44551,28751,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.52,probably_damaging,1,deleterious,0,5.28134,33,O95255_D777N,D,N,777,DN,D777N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.596,-3.373,2.777,0.012,E,b,0.14,-1.24,,,,0.00011413,0,0.00389208,0.614868
3182,O95255,Y,X,768,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,44526,28776,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.51,,,,,6.95998,38,O95255_Y768X,Y,X,768,YX,Y768X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000283667,0,0.00967363,0.970188
3185,O95255,R,W,760,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,0.001,,,,0.001,44500,28802,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.51,probably_damaging,1,deleterious,0,4.20221,21.8,O95255_R760W,R,W,760,RW,R760W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.734,-5.501,4.767,0.124,H,A,1.67,-1.06,0.132,,35.99,0.000185475,0,0.00632509,0.520757
3198,O95255,V,A,665,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,40555,1175,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.44,probably_damaging,0.983,deleterious,0,4.00562,20.5,O95255_V665A,V,A,665,VA,V665A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-0.83,-3.13,2.3,1.158,T,b,0.44,-0.8,3.651,,77.78,0.000218031,0,0.0074353,0.808951
3199,O95255,P,S,664,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,0,0,0,0.001,0.01,,,,40551,1179,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.44,benign,0.01,tolerated,0.95,-0.518758,1.632,O95255_P664S,P,S,664,PS,P664S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-2.239,-2.438,0.199,,,,,,17.105,17.105,80.64,0.000549449,0,0.0187373,1.01122
3200,O95255,G,C,663,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,40548,1182,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.44,probably_damaging,1,deleterious,0,4.4018,23.3,O95255_G663C,G,C,663,GC,G663C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.507,-5.238,4.731,0.069,.,b,0.75,-1.23,,,,0.00011078,0,0.00377783,0.534146
3217,O95255,C,G,440,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,25394,16336,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.29,probably_damaging,0.991,deleterious,0.02,2.83404,15.44,O95255_C440G,C,G,440,CG,C440G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.861,-2.741,0.88,,,,,,20.93,20.93,50.3,0.000447402,0,0.0152573,0.937681
3243,P51168,G,S,82,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,88,4206,ENSG00000168447,ENST00000307331,,SCNN1B,0.12,probably_damaging,0.999,deleterious,0,5.01175,29.5,P51168_G82S,G,S,82,GS,G82S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00129571,0,0.0441862,0.91555
3280,P15735,L,R,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,3902,34,ENSG00000156873,ENST00000565897,,PHKG2,0.85,probably_damaging,0.999,deleterious,0,4.50454,24.2,P15735_L226R,L,R,226,LR,L226R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.117,-3.71,2.593,,H,A,1.75,-0.65,,,,0.00133231,0,0.0454344,0.51033
3283,Q9BQB6,R,W,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,2278,152,ENSG00000167397,ENST00000394975,CCDS10703.1,VKORC1,0.6,possibly_damaging,0.805,deleterious,0.02,4.66108,25.7,Q9BQB6_R98W,R,W,98,RW,R98W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.931,-5.157,3.226,,,,,,0.619,,93.25,0.012157,0,0.414578,0.800501
3305,Q9HC29,L,F,469,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,879,365,ENSG00000167207,ENST00000300589,CCDS10746.1,NOD2,0.45,possibly_damaging,0.822,deleterious,0.01,2.6644,14.87,Q9HC29_L469F,L,F,469,LF,L469F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.544,-3.687,2.143,,,,,,2.751,,61.35,0.000640684,0,0.0218487,0.910888
3332,P55017,R,W,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,4908,43287,ENSG00000070915,ENST00000566786,CCDS45491.1,SLC12A3,0.2,probably_damaging,1,deleterious,0,2.0293,12.74,P55017_R208W,R,W,208,RW,R208W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,9.97e-05,0,0.00339901,0.995497
3334,P55017,C,R,420,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,13942,34253,ENSG00000070915,ENST00000566786,CCDS45491.1,SLC12A3,0.41,probably_damaging,0.996,deleterious,0,3.93942,20.1,P55017_C420R,C,R,420,CR,C420R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00102389,0,0.0349167,0.900235
3341,Q9Y653,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.62,0.08,0,0,0,,,,,,1448,16,ENSG00000205336,ENST00000379694,,GPR56,,,,,,1.92337,12.39,Q9Y653_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3402,P13498,H,R,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,65,620,ENSG00000051523,ENST00000567174,,CYBA,0.45,probably_damaging,0.992,deleterious,0.01,3.16586,16.59,P13498_H94R,H,R,94,HR,H94R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.597,-3.873,2.276,,,,,,2.031,,51.28,0.00634288,0,0.216305,0.779115
3412,P34059,R,C,311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,2264,64,ENSG00000141012,ENST00000542788,,GALNS,0.7,probably_damaging,1,tolerated,0.05,3.01167,16.05,P34059_R311C,R,C,311,RC,R311C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00274373,0,0.0935668,0.929023
3419,P34059,V,A,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,1045,303,ENSG00000141012,ENST00000268695,CCDS10970.1,GALNS,0.26,possibly_damaging,0.816,tolerated,0.07,3.23774,16.85,P34059_V138A,V,A,138,VA,V138A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.332,-2.797,1.465,,,,,,4.352,,92.72,0.0038875,0,0.132572,0.961243
3430,Q13509,V,L,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,0.096,0.023,0.133,0.05,,0.07,0.01,0.11,271,392,ENSG00000258947,ENST00000555427,,RP11-566K11.2,0.16,probably_damaging,0.907,deleterious,0,2.65814,14.85,Q13509_V60L,V,L,60,VL,V60L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.465,-2.365,0.9,0.208,E,B,0.11,0.71,,,,0.000518541,0,0.0176833,0.860336
3471,Q04844,T,P,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,952,61,ENSG00000108556,ENST00000293780,CCDS11058.1,CHRNE,0.58,probably_damaging,1,deleterious,0,4.95442,28.8,Q04844_T284P,T,P,284,TP,T284P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.067,-3.472,2.405,0.151,H,A,0.3,0,,,,0.00161913,0,0.0552157,0.69968
3572,Q9UKN7,N,Y,2111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,86,727,ENSG00000091536,ENST00000205890,CCDS42271.1,MYO15A,0.6,,,deleterious,0,3.65032,18.56,Q9UKN7_N2111Y,N,Y,2111,NY,N2111Y,Polar,Hydrophobic,5.47,5.66,0.19,132,181,49,114.1,193.6,79.5,143,-1.264,-4.101,2.837,,,,,,1.43,,79.46,,,,0.80765
3582,Q96NT5,G,R,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,18,120,ENSG00000076351,ENST00000440501,,SLC46A1,0.32,probably_damaging,0.999,deleterious,0,4.97653,29.1,Q96NT5_G147R,G,R,147,GR,G147R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,,,,,,,,0.00196254,0,0.0669268,0.764211
3611,#N/A,R,X,276,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.05,,,,,,,,,2006,3203,ENSG00000108753,ENST00000560016,,HNF1B,0.5,,,,,7.0429,38,#N/A_R276X,R,X,276,RX,R276X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3661,Q04695,L,P,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,83,1341,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.23,probably_damaging,0.995,deleterious,0,4.3744,23.1,Q04695_L99P,L,P,99,LP,L99P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.15,-3.915,2.765,,,,,,0.594,,36.34,0.000601214,0,0.0205026,0.826775
3666,Q04695,N,S,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,62,1362,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.21,possibly_damaging,0.753,deleterious,0.01,4.63618,25.4,Q04695_N92S,N,S,92,NS,N92S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.008,-2.791,1.783,,,,,,,,,0.000881536,0,0.0300622,0.911905
3667,Q04695,N,D,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.03,,,,,,,,,61,1363,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.21,probably_damaging,0.965,deleterious,0,4.88097,28,Q04695_N92D,N,D,92,ND,N92D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.008,-2.874,1.866,,,,,,,,,0.000881536,0,0.0300622,0.917909
3668,Q04695,N,H,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.03,,,,,,,,,61,1363,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.21,probably_damaging,0.995,deleterious,0,4.52506,24.4,Q04695_N92H,N,H,92,NH,N92H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,-1.008,-3.861,2.853,,,,,,,,,0.000881536,0,0.0300622,0.815611
3669,Q04695,M,T,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.03,,,,,,,,,50,1374,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.2,probably_damaging,0.957,deleterious,0,4.05008,20.8,Q04695_M88T,M,T,88,MT,M88T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.296,-3.277,1.981,,,,,,,,,0.00105184,0,0.0358699,0.778995
3673,P54802,R,C,234,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,2758,5756,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.31,probably_damaging,0.991,deleterious,0.02,4.22775,22,P54802_R234C,R,C,234,RC,R234C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.101,-4.943,3.842,,,,,,,,,0.00183315,0,0.0625142,0.752564
3686,Q96J92,D,H,564,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,6860,9553,ENSG00000126562,ENST00000246914,CCDS11439.1,WNK4,0.45,probably_damaging,0.943,deleterious,0.04,4.13466,21.3,Q96J92_D564H,D,H,564,DH,D564H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.128,-4.266,3.138,,,,,,0.798,,31.7,0.00045826,0,0.0156276,0.842024
3687,Q96J92,D,A,564,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,6861,9552,ENSG00000126562,ENST00000246914,CCDS11439.1,WNK4,0.45,possibly_damaging,0.668,deleterious,0,4.1997,21.8,Q96J92_D564A,D,A,564,DA,D564A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-1.128,-3.113,1.985,,,,,,1.744,,31.7,0.00045826,0,0.0156276,0.872996
3688,Q96J92,Q,E,565,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,6863,9550,ENSG00000126562,ENST00000246914,CCDS11439.1,WNK4,0.45,possibly_damaging,0.647,deleterious,0.02,4.2997,22.5,Q96J92_Q565E,Q,E,565,QE,Q565E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,-1.16,-2.621,1.461,,,,,,,,,0.000439046,0,0.0149724,0.933388
3719,P02730,R,Q,760,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,14992,4765,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.83,probably_damaging,0.998,deleterious,0,5.22269,33,P02730_R760Q,R,Q,760,RQ,R760Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.798,-3.604,2.806,,,,,,0.871,,47.2,0.000269373,0,0.00918618,0.85238
3720,P02730,G,D,701,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,0.001,0.002,,,,14815,4942,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.77,probably_damaging,1,deleterious,0,4.92447,28.5,P02730_G701D,G,D,701,GD,G701D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.735,-2.799,2.064,,,,,,24.126,24.126,60.81,0.000552721,0,0.0188489,0.880554
3735,P02730,E,K,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,0.001,,,0.002,,1351,90,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.1,benign,0.003,deleterious,0.04,2.53839,14.45,P02730_E90K,E,K,90,EK,E90K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.505,-2.241,0.736,0.754,T,A,1.3,1.03,25.061,25.061,90.45,0.00097557,0,0.0332689,0.993794
3740,P28799,A,D,9,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,4067,3913,ENSG00000030582,ENST00000053867,CCDS11483.1,GRN,0.02,possibly_damaging,0.65,deleterious,0.03,3.40893,17.52,P28799_A9D,A,D,9,AD,A9D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.471,-3.515,2.044,,,,,,3.022,,81.11,0.000629598,0,0.0214706,0.900831
3743,P08514,A,T,955,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.03,0,0,0,0.001,,0.01,,,15057,2266,ENSG00000005961,ENST00000353281,,ITGA2B,0.95,benign,0.055,tolerated,0.25,0.744126,7.947,P08514_A955T,A,T,955,AT,A955T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00266329,0,0.0908238,0.968401
3749,P08514,Q,P,778,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,13183,4140,ENSG00000005961,ENST00000353281,,ITGA2B,0.77,benign,0.192,deleterious,0.05,2.90957,15.7,P08514_Q778P,Q,P,778,QP,Q778P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-2.347,-3.789,1.442,,,,,,2.274,,84.89,0.00097474,0,0.0332406,0.969662
3763,P14136,E,D,362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,4224,27,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.84,probably_damaging,0.992,deleterious,0,4.43695,23.6,P14136_E362D,E,D,362,ED,E362D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.075,-2.611,1.536,,,,,,,,,0.00186733,0,0.0636797,0.902137
3773,P56703,Q,X,83,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.13,,,,,,,,,45018,100,ENSG00000108379,ENST00000225512,CCDS11505.1,WNT3,0.23,,,,,5.09244,31,P56703_Q83X,Q,X,83,QX,Q83X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3791,Q9NVS9,X,Q,219,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.62,0.03,,,,,,,,,1356,23,ENSG00000108439,ENST00000434554,,PNPO,1,,,,,5.69426,36,Q9NVS9_X219Q,X,Q,219,XQ,X219Q,Stop,Polar,5.71,6.24,0.53,132.5,146,13.5,141.9,143.8,1.9,,,,,,,,,,,,,,,,0.936641
3808,P02452,R,X,1026,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,20,873,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.7,,,,,8.46931,40,P02452_R1026X,R,X,1026,RX,R1026X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000176095,0,0.00600519,0.977351
3826,P02452,G,C,593,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,599,449,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.41,,,deleterious,0,3.72104,18.9,P02452_G593C,G,C,593,GC,G593C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.921,-4.823,3.902,,,,,0,,,,1.91e-05,0,0.00065269,0.646273
3827,P02452,G,S,593,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,599,449,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.41,,,deleterious,0,4.40254,23.3,P02452_G593S,G,S,593,GS,G593S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,0,,,,1.91e-05,0,0.00065269,0.72721
3828,P02452,G,R,569,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,54,455,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.39,,,deleterious,0,4.0496,20.8,P02452_G569R,G,R,569,GR,G569R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,0,,,,1.96e-05,0,0.000668779,0.639147
3846,Q13253,L,X,129,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.13,,,,,,,,,910,982,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.56,,,,,6.95525,38,Q13253_L129X,L,X,129,LX,L129X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.00761171,0,0.259575,0.918222
3877,P01241,R,H,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,1332,28,ENSG00000259384,ENST00000342364,CCDS42371.1,GH1,0.93,possibly_damaging,0.522,deleterious,0.03,3.44779,17.67,P01241_R114H,R,H,114,RH,R114H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00490754,0,0.167357,0.965411
3909,P35499,R,C,672,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,2424,104,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.37,possibly_damaging,0.687,deleterious,0,4.20764,21.8,P35499_R672C,R,C,672,RC,R672C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.114,-5.033,3.919,,,,,,0.865,,92.32,7.44e-05,0,0.00253645,0.834075
3910,P35499,R,S,672,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,2424,104,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.37,probably_damaging,0.936,deleterious,0,4.21543,21.9,P35499_R672S,R,S,672,RS,R672S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.114,-3.331,2.217,,,,,,3.992,,92.32,7.44e-05,0,0.00253645,0.853702
3932,O14745,R,Q,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,0.003,0.001,0.005,0.001,,,,0.003,25,6555,ENSG00000109062,ENST00000262613,CCDS11705.1,SLC9A3R1,0.43,probably_damaging,0.999,deleterious,0,5.33239,34,O14745_R153Q,R,Q,153,RQ,R153Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.312,-2.242,0.93,0.547,E,B,0.56,0,13.923,13.923,65.08,0.00142726,0,0.0486727,0.872227
3937,P16144,C,R,38,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,576,13880,ENSG00000132470,ENST00000579662,,ITGB4,0.02,,,,,2.53425,14.43,P16144_C38R,C,R,38,CR,C38R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,0.000220536,0,0.00752074,0.785818
3950,Q70J99,F,C,857,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.01,,,,,,,,,13565,3683,ENSG00000092929,ENST00000207549,CCDS11730.1,UNC13D,0.79,probably_damaging,0.997,deleterious,0,3.3398,17.24,Q70J99_F857C,F,C,857,FC,F857C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.149,-4.679,3.53,,,,,,,,,0.00144895,0,0.0494123,0.694319
3989,P63261,T,I,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,151,481,ENSG00000184009,ENST00000575994,,ACTG1,0.41,benign,0.012,,,0.182128,4.981,P63261_T89I,T,I,89,TI,T89I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.533,-3.421,1.888,0.007,I,A,0.7,0,1.758,,58.4,0.00402398,0.0034965,0.137226,0.764352
3990,P47871,G,S,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,0.008,0.001,0.011,0.005,,0.003,,0.01,808,553,ENSG00000215644,ENST00000400723,CCDS54177.1,GCGR,0.08,benign,0.002,tolerated,0.46,0.931771,8.796,P47871_G40S,G,S,40,GS,G40S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.752,-1.941,0.189,,,,,,18.212,18.212,82.81,0.00227182,0,0.0774738,1.01467
4124,Q9Y2V3,Q,X,147,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.21,,,,,,,,,921,521,ENSG00000134438,ENST00000334889,CCDS11972.1,RAX,0.42,,,,,8.06767,40,Q9Y2V3_Q147X,Q,X,147,QX,Q147X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000401053,0,0.0136767,0.98231
4172,Q15831,Q,X,170,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,14617,8020,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.39,,,,,14.2527,48,Q15831_Q170X,Q,X,170,QX,Q170X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00270682,0,0.0923081,0.955443
4191,P36507,Y,H,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.16,,,,,,,,,13558,20238,ENSG00000126934,ENST00000394867,,MAP2K2,0.12,probably_damaging,0.947,deleterious,0,4.76348,26.7,P36507_Y37H,Y,H,37,YH,Y37H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,,,,0.949803
4226,Q9GZU1,D,Y,362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,6310,5089,ENSG00000090674,ENST00000264079,CCDS12180.1,MCOLN1,0.62,probably_damaging,0.999,deleterious,0,4.78149,26.9,Q9GZU1_D362Y,D,Y,362,DY,D362Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.213,-4.158,2.945,,,,,,1.064,,66.38,0.00112253,0,0.0382807,0.826309
4252,P01130,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.62,0.08,,,,,,,,,80,31,ENSG00000130164,ENST00000558013,,LDLR,,,,,,2.76729,15.21,P01130_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4253,P19235,Y,X,426,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.03,,,,,,,,,6110,1028,ENSG00000187266,ENST00000222139,CCDS12260.1,EPOR,0.84,,,,,3.18466,16.66,P19235_Y426X,Y,X,426,YX,Y426X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00624,0,0.212797,0.904133
4258,O00754,R,W,749,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,0,0,0,0.001,,,,0.001,16752,3371,ENSG00000104774,ENST00000221363,CCDS54224.1,MAN2B1,0.74,probably_damaging,0.998,deleterious,0,2.17731,13.24,O00754_R749W,R,W,749,RW,R749W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000414434,0,0.014133,0.987856
4273,Q92947,R,P,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,0,0,0,,,,,,5083,1229,ENSG00000105607,ENST00000421816,,GCDH,0.59,benign,0.194,deleterious,0,2.0106,12.68,Q92947_R194P,R,P,194,RP,R194P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.707,-3.637,1.93,0.564,E,B,0.68,1.1,2.427,,89.5,0.00326562,0,0.111364,0.907022
4278,Q92947,R,W,402,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,0,0,0.001,,,,,,6658,347,ENSG00000105607,ENST00000222214,CCDS12286.1,GCDH,0.92,probably_damaging,1,deleterious,0,4.88638,28.1,Q92947_R402W,R,W,402,RW,R402W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.009,H,A,1.67,-0.66,,,,0.000925228,0,0.0315522,0.531389
4292,O00555,T,M,665,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,202348,96564,ENSG00000141837,ENST00000573710,,CACNA1A,0.27,probably_damaging,0.999,,,3.06426,16.23,O00555_T665M,T,M,665,TM,T665M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,7.32e-05,0,0.00249558,1.00047
4295,Q9NZ01,P,L,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,35246,1137,ENSG00000099797,ENST00000436007,,TECR,0.61,probably_damaging,1,deleterious,0,4.47996,24,Q9NZ01_P197L,P,L,197,PL,P197L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
4304,Q6NT55,H,Y,435,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0,,,,,,,,,23837,3147,ENSG00000171954,ENST00000269703,CCDS12331.1,CYP4F22,0.82,probably_damaging,0.998,deleterious,0,4.41624,23.4,Q6NT55_H435Y,H,Y,435,HY,H435Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.311,-3.039,1.728,,,,,,,,,0.00322487,0,0.109975,0.886895
4305,Q6NT55,H,D,436,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0,,,,,,,,,23840,3144,ENSG00000171954,ENST00000269703,CCDS12331.1,CYP4F22,0.82,probably_damaging,0.954,deleterious,0,3.49143,17.85,Q6NT55_H436D,H,D,436,HD,H436D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,-1.528,-3.48,1.952,,,,,,1.609,,86.82,0.00352117,0,0.120079,0.945014
4324,O75462,Q,X,180,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.04,,,,,,,,,8260,5364,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,0.43,,,,,4.99054,29.3,O75462_Q180X,Q,X,180,QX,Q180X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.003246,0,0.110695,0.955443
4328,P49747,G,D,686,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,7740,351,ENSG00000105664,ENST00000542601,,COMP,0.95,probably_damaging,1,deleterious,0,4.63613,25.4,P49747_G686D,G,D,686,GD,G686D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00182465,0,0.0622243,0.960251
4335,P49747,D,Y,309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.16,,,,,,,,,567,1483,ENSG00000105664,ENST00000542601,,COMP,0.43,probably_damaging,0.923,deleterious,0,4.02519,20.6,P49747_D309Y,D,Y,309,DY,D309Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.000445431,0,0.0151901,0.967496
4341,A6XGL0,K,N,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.19,,,,,,,,,1,3832,ENSG00000250067,ENST00000553705,,YJEFN3,0.02,possibly_damaging,0.877,deleterious,0,5.52834,35,A6XGL0_K5N,K,N,5,KN,K5N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,,,,,,,,,,,,,,,0.939744
4354,P12955,D,N,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,120032,14913,ENSG00000124299,ENST00000244137,CCDS42544.1,PEPD,0.56,probably_damaging,0.998,deleterious,0,5.20959,33,P12955_D276N,D,N,276,DN,D276N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.139,-2.958,1.819,0.049,E,B,0.14,-0.21,,,,0.000621652,0,0.0211996,0.796678
4355,P12955,R,X,265,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.12,0,0,0,,,,,,110197,24748,ENSG00000124299,ENST00000244137,CCDS42544.1,PEPD,0.54,,,,,4.35034,22.9,P12955_R265X,R,X,265,RX,R265X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00347261,0,0.118423,0.951177
4369,O60500,E,K,447,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,0.01,0.04,,,,3852,22761,ENSG00000161270,ENST00000378910,CCDS32996.1,NPHS1,0.36,probably_damaging,0.968,tolerated,0.07,4.58971,25,O60500_E447K,E,K,447,EK,E447K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,0.000412225,0,0.0140577,0.912142
4370,O43914,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.62,0.05,,,,,,,,,83,3817,ENSG00000011600,ENST00000544690,CCDS54255.1,TYROBP,0.01,benign,0.063,deleterious,0.01,1.93505,12.43,O43914_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.541,-3.198,1.657,,,,,,,,,0.00794705,0.00892857,0.271011,0.840238
4380,P21817,P,S,3522,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,91755,62110,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.7,,,,,2.93225,15.77,P21817_P3522S,P,S,3522,PS,P3522S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,,,,0.954036
4399,Q9BXM0,R,X,368,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,0.001,0.002,,,,16115,3485,ENSG00000105227,ENST00000324001,CCDS33028.1,PRX,0.25,,,,,5.17077,32,Q9BXM0_R368X,R,X,368,RX,R368X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4444,P18074,S,R,491,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,0.001,0.002,,,,15755,3171,ENSG00000104884,ENST00000391941,,ERCC2,0.69,benign,0.392,deleterious,0,4.25827,22.2,P18074_S491R,S,R,491,SR,S491R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,0.00180744,0,0.0616375,0.945073
4464,O43186,E,A,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,1937,52,ENSG00000105392,ENST00000539067,CCDS12706.1,CRX,0.27,benign,0,deleterious,0,1.83974,12.11,O43186_E80A,E,A,80,EA,E80A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-1.255,-2.813,1.558,,,,,,,,,0.000812114,0,0.0276948,0.900725
4478,#N/A,R,W,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,0.001,0,0.001,,,,,,2486,242,ENSG00000167744,ENST00000301411,CCDS12754.1,NTF4,0.98,probably_damaging,0.994,deleterious,0,2.74583,15.14,#N/A_R206W,R,W,206,RW,R206W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
4489,Q14003,F,L,448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,5638,8101,ENSG00000131398,ENST00000477616,CCDS12793.1,KCNC3,0.59,benign,0.017,tolerated,0.88,0.132365,4.712,Q14003_F448L,F,L,448,FL,F448L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.517,-1.829,0.312,,,,,,5.903,5.903,15.72,0.000166269,0,0.00567011,0.95009
4498,P05129,H,Q,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,5996,276,ENSG00000126583,ENST00000419486,,PRKCG,0.66,probably_damaging,0.981,deleterious,0,4.33658,22.8,P05129_H124Q,H,Q,124,HQ,H124Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,,,,,,,,,,,,,,,0.96163
4500,P05129,S,P,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,6048,224,ENSG00000126583,ENST00000419486,,PRKCG,0.76,probably_damaging,0.957,deleterious,0,4.28429,22.4,P05129_S142P,S,P,142,SP,S142P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,,,,0.953006
4509,P13805,E,X,169,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.12,,,,,,,,,12063,4382,ENSG00000105048,ENST00000536926,,TNNT1,0.67,,,,,4.98584,29.2,P13805_E169X,E,X,169,EX,E169X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
4514,P19429,A,T,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,3665,2298,ENSG00000129991,ENST00000344887,CCDS42628.1,TNNI3,0.81,probably_damaging,0.987,deleterious,0.04,4.22189,21.9,P19429_A171T,A,T,171,AT,A171T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.225,-2.967,1.742,0.544,H,A,0.22,-0.61,3.872,,47.14,0.00739277,0,0.252109,0.812142
4563,Q9HC10,P,R,1987,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,19969,870,ENSG00000115155,ENST00000403946,,OTOF,0.99,probably_damaging,1,deleterious,0,4.60418,25.1,Q9HC10_P1987R,P,R,1987,PR,P1987R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.696,-3.961,3.265,,,,,,,,,,,,0.755866
4648,Q9H221,G,R,574,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,0,0,0,,,,,,36413,3090,ENSG00000143921,ENST00000272286,CCDS1815.1,ABCG8,0.85,probably_damaging,0.98,deleterious,0,1.76247,11.85,Q9H221_G574R,G,R,574,GR,G574R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.314,-3.587,2.273,,,,,,7.12,,81.72,0.00168089,0,0.0573219,0.856423
4664,Q99814,G,R,537,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,581,2224,ENSG00000116016,ENST00000263734,CCDS1825.1,EPAS1,0.62,probably_damaging,0.999,deleterious,0,5.08424,31,Q99814_G537R,G,R,537,GR,G537R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.00042666,0,0.01455,0.78896
4665,Q99814,G,W,537,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,581,2224,ENSG00000116016,ENST00000263734,CCDS1825.1,EPAS1,0.62,probably_damaging,1,deleterious,0,4.71053,26.2,Q99814_G537W,G,W,537,GW,G537W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-0.809,-4.915,4.106,,,,,,,,,0.00042666,0,0.01455,0.764517
4769,P43403,S,R,392,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,6,184,ENSG00000115085,ENST00000442208,,ZAP70,0.8,probably_damaging,1,deleterious,0,3.78246,19.2,P43403_S392R,S,R,392,SR,S392R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,0.00119134,0,0.0406272,0.906629
4770,P43403,M,L,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,263,74,ENSG00000115085,ENST00000442208,,ZAP70,0.9,probably_damaging,0.978,deleterious,0.01,3.59407,18.3,P43403_M446L,M,L,446,ML,M446L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,,,,,,,,,,,,0.00180754,0,0.0616408,0.972459
4814,P04070,P,L,244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,2889,47,ENSG00000115718,ENST00000409048,,PROC,0.49,benign,0.382,deleterious,0.02,2.50415,14.33,P04070_P244L,P,L,244,PL,P244L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.0031917,0,0.108843,0.957943
4816,P04070,R,Q,254,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,2919,77,ENSG00000115718,ENST00000409048,,PROC,0.51,benign,0.042,tolerated,0.54,0.709373,7.78,P04070_R254Q,R,Q,254,RQ,R254Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.000380689,0,0.0129823,0.995428
4820,P04070,P,L,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,5137,521,ENSG00000115718,ENST00000402125,,PROC,0.27,probably_damaging,0.994,deleterious,0.01,4.04704,20.8,P04070_P64L,P,L,64,PL,P64L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.000723766,0,0.0246819,0.98481
4827,P04070,R,X,123,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.15,,,,,,,,,5313,345,ENSG00000115718,ENST00000402125,,PROC,0.52,,,,,0.54517,6.95,P04070_R123X,R,X,123,RX,R123X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00272319,0,0.0928664,0.951177
4828,P04070,W,C,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,5603,55,ENSG00000115718,ENST00000402125,,PROC,0.93,probably_damaging,1,deleterious,0,2.92114,15.73,P04070_W219C,W,C,219,WC,W219C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,0.00305599,0,0.104216,0.921004
4829,P04070,I,M,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,5606,52,ENSG00000115718,ENST00000402125,,PROC,0.93,possibly_damaging,0.886,deleterious,0.05,1.62976,11.41,P04070_I220M,I,M,220,IM,I220M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,,,,,,,,,,,,0.003372,0,0.114992,0.979184
5028,Q9Y276,G,R,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,26,128,ENSG00000074582,ENST00000423377,,BCS1L,0.32,probably_damaging,0.971,deleterious,0,4.35813,23,Q9Y276_G35R,G,R,35,GR,G35R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.15,-3.663,2.513,,,,,,2.741,,69.21,0.00294613,0,0.100469,0.838233
5058,Q14623,E,K,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.21,,,,,,,,,283,5761,ENSG00000163501,ENST00000295731,CCDS33380.1,IHH,0.23,probably_damaging,0.995,deleterious,0,4.99011,29.2,Q14623_E95K,E,K,95,EK,E95K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.336,-2.998,1.662,0.219,T,A,1.3,0.64,2.058,,60.1,0.00153043,0,0.0521907,0.801157
5063,P17661,A,P,337,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,817,2882,ENSG00000175084,ENST00000373960,CCDS33383.1,DES,0.72,probably_damaging,0.972,deleterious,0,4.18375,21.7,P17661_A337P,A,P,337,AP,A337P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.5,-3.466,1.966,,,,,,2.026,,69.57,0.00332572,0,0.113414,0.91168
5073,O75147,C,X,383,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.15,,,,,,,,,975,6441,ENSG00000124006,ENST00000373876,,OBSL1,0.21,,,,,5.81384,36,O75147_C383X,C,X,383,CX,C383X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
5104,Q07001,L,P,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,473,939,ENSG00000135902,ENST00000258385,CCDS2494.1,CHRND,0.12,probably_damaging,1,deleterious,0,4.37779,23.1,Q07001_L63P,L,P,63,LP,L63P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,0.058,E,B,1.07,0,,,,0.000637285,0,0.0217327,0.6122
5112,P07510,R,X,46,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.15,,,,,,,,,324,1811,ENSG00000196811,ENST00000389494,CCDS33400.1,CHRNG,0.09,,,,,3.07741,16.28,P07510_R46X,R,X,46,RX,R46X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00234237,0,0.0798797,0.959768
5144,P21549,Y,X,66,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,356,4267,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.17,,,,,7.39882,39,P21549_Y66X,Y,X,66,YX,Y66X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00313445,0,0.106891,0.945391
5185,P21549,Y,X,204,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,2805,526,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.52,,,,,4.71688,26.2,P21549_Y204X,Y,X,204,YX,Y204X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00264699,0,0.0902676,0.945391
5186,P21549,S,P,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,2806,527,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.52,probably_damaging,0.991,deleterious,0,1.60233,11.31,P21549_S205P,S,P,205,SP,S205P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.262,-4,2.738,0.016,E,B,0.25,-1.05,2.316,,87.24,0.00362273,0,0.123542,0.622964
5187,P21549,S,X,205,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,2807,528,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.52,,,,,5.37194,34,P21549_S205X,S,X,205,SX,S205X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00362273,0,0.123542,0.953542
5188,P21549,S,L,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,2807,528,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.52,probably_damaging,0.997,deleterious,0,2.61653,14.71,P21549_S205L,S,L,205,SL,S205L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.262,-3.573,2.311,0.016,E,B,0.82,-1.05,7.992,,87.24,0.00362273,0,0.123542,0.623014
5190,P21549,G,R,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,2839,560,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.55,probably_damaging,1,deleterious,0,3.08714,16.31,P21549_G216R,G,R,216,GR,G216R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.647,-4.111,3.464,0.149,S,g,0.91,-1.49,2.03,,51.28,0.000926704,0,0.0316025,0.525184
5192,P21549,S,P,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,2854,575,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.56,probably_damaging,0.999,deleterious,0,2.11998,13.05,P21549_S221P,S,P,221,SP,S221P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.296,-3.282,1.986,,E,B,0.25,-0.31,28.649,28.649,57.91,0.00366037,0,0.124826,0.68523
5208,P21549,I,M,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,919,19,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.71,possibly_damaging,0.603,deleterious,0.01,1.95774,12.5,P21549_I279M,I,M,279,IM,I279M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.785,-3.016,1.231,0.075,H,A,0.07,0.33,13.842,13.842,81.12,0.00436603,0,0.148891,0.905375
5224,P21549,P,L,319,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,1122,1086,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.81,probably_damaging,0.994,deleterious,0,2.83736,15.45,P21549_P319L,P,L,319,PL,P319L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.421,-3.644,2.223,0.113,S,A,1.07,-0.42,7.699,,57.14,0.00418643,0,0.142766,0.584163
5225,P21549,R,X,333,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,1163,1045,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.85,,,,,6.22294,37,P21549_R333X,R,X,333,RX,R333X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00422316,0,0.144018,0.950312
5235,Q2I0M5,C,Y,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,35032,6976,ENSG00000101282,ENST00000400634,CCDS42845.1,RSPO4,0.69,probably_damaging,0.987,deleterious,0,4.11718,21.2,Q2I0M5_C118Y,C,Y,118,CY,C118Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,,,,,,,,,0.00121466,0,0.0414225,0.706626
5238,Q2I0M5,Q,R,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,34238,7770,ENSG00000101282,ENST00000400634,CCDS42845.1,RSPO4,0.38,possibly_damaging,0.896,deleterious,0,4.74983,26.6,Q2I0M5_Q65R,Q,R,65,QR,Q65R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.25,-3.075,1.825,,,,,,,,,0.00467478,0.00591716,0.15942,0.872436
5337,Q5U4N7,Q,X,20,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.15,,,,,,,,,1187,869,ENSG00000204183,ENST00000374375,,GDF5OS,0.08,probably_damaging,1,deleterious,0,6.93766,38,Q5U4N7_Q20X,Q,X,20,QX,Q20X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
5350,P41235,R,W,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,0,0,0,,,,,,12430,10926,ENSG00000101076,ENST00000443598,CCDS13331.1,HNF4A,0.33,probably_damaging,0.994,deleterious,0,3.88409,19.74,P41235_R136W,R,W,136,RW,R136W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.00164244,0,0.0560108,0.72156
5354,P41235,V,I,402,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,27125,1263,ENSG00000101076,ENST00000415691,CCDS46605.1,HNF4A,0.87,benign,0.232,tolerated,0.15,3.89929,19.83,P41235_V402I,V,I,402,VI,V402I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.304,-2.396,1.092,,,,,,,,,0.00409469,0,0.139638,0.920317
5383,P10619,F,V,458,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,287,693,ENSG00000064601,ENST00000372484,CCDS13385.2,CTSA,0.92,probably_damaging,0.928,deleterious,0,4.62315,25.3,P10619_F458V,F,V,458,FV,F458V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,,,,,,,,,,,,0.00843061,0,0.287501,0.92739
5423,O43526,L,R,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,34007,4953,ENSG00000075043,ENST00000359689,,KCNQ2,0.39,probably_damaging,0.96,deleterious,0,2.9036,15.67,O43526_L339R,L,R,339,LR,L339R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-0.988,-4.037,3.049,,,,,,2.847,,70.18,0.000682316,0,0.0232684,0.918696
5442,O43526,S,L,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,25870,13090,ENSG00000075043,ENST00000359689,,KCNQ2,0.14,possibly_damaging,0.672,deleterious,0,4.46909,23.9,O43526_S122L,S,L,122,SL,S122L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.382,-2.702,1.32,,,,,,15.718,15.718,91.74,0.000802363,0,0.0273622,0.956823
5443,O43526,E,G,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,25861,13099,ENSG00000075043,ENST00000359689,,KCNQ2,0.14,benign,0.125,deleterious,0,3.30893,17.12,O43526_E119G,E,G,119,EG,E119G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.718,-3.554,1.836,,,,,,3.664,,91.74,0.0014235,0,0.0485443,0.93454
5531,P02489,W,X,9,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,39,3169,ENSG00000160202,ENST00000291554,CCDS13695.1,CRYAA,0.05,,,,,7.04773,38,P02489_W9X,W,X,9,WX,W9X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00557024,0.0243902,0.189957,0.906133
5532,P02489,R,C,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,157,3051,ENSG00000160202,ENST00000291554,CCDS13695.1,CRYAA,0.28,probably_damaging,0.987,deleterious,0,3.78402,19.21,P02489_R49C,R,C,49,RC,R49C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.806,-5.401,3.595,,,,,,1.065,,73.41,0.00752074,0.00806452,0.256473,0.765135
5545,P05107,G,S,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,10264,1300,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.37,probably_damaging,0.999,deleterious,0.01,4.68971,25.9,P05107_G284S,G,S,284,GS,G284S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.763,-3.016,2.253,0.069,S,g,0.02,-0.65,,,,0.000602908,0,0.0205604,0.655222
5554,P12109,G,R,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,7392,15922,ENSG00000142156,ENST00000361866,CCDS13727.1,COL6A1,0.28,probably_damaging,0.991,deleterious,0.02,3.94569,20.2,P12109_G284R,G,R,284,GR,G284R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.000237423,0,0.00809662,0.78896
5591,P53674,G,X,220,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,18498,313,ENSG00000100122,ENST00000215939,CCDS13840.1,CRYBB1,0.87,,,,,5.0382,29.8,P53674_G220X,G,X,220,GX,G220X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,,,,0.933822
5601,P35240,R,X,437,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,70892,9025,ENSG00000186575,ENST00000403435,,NF2,0.78,,,,,7.30694,39,P35240_R437X,R,X,437,RX,R437X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00153665,0,0.052403,0.900587
5641,P56693,A,V,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,5321,12,ENSG00000100146,ENST00000427770,,SOX10,0.73,probably_damaging,0.971,deleterious,0.01,5.26632,33,P56693_A157V,A,V,157,AV,A157V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,0.000852042,0,0.0290564,0.912316
5677,Q9NPC4,G,D,187,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,1595,580,ENSG00000128274,ENST00000381278,CCDS14041.1,A4GALT,0.53,probably_damaging,0.999,deleterious,0,4.48452,24,Q9NPC4_G187D,G,D,187,GD,G187D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.763,-3.324,2.561,,,,,,,,,0.0016377,0,0.055849,0.721324
5699,O43819,C,Y,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,1489,12,ENSG00000130489,ENST00000395693,CCDS14095.1,SCO2,0.5,probably_damaging,0.992,deleterious,0,4.33132,22.8,O43819_C133Y,C,Y,133,CY,C133Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.111,-4.018,2.907,0.238,.,B,0.25,-0.37,,,,0.00128042,0,0.0436649,0.632023
5716,P15289,T,S,391,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,0.484,0.394,0.53,0.43,0.32,0.49,0.37,0.51,2545,578,ENSG00000100299,ENST00000547805,,ARSA,0.77,benign,0,tolerated,0.47,0.813939,8.274,P15289_T391S,T,S,391,TS,T391S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,-3.394,-2.109,-1.285,0.086,E,B,0.05,-0.59,19.78,19.78,89.94,0.00260497,0,0.0888348,0.959747
5717,P15289,R,W,390,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,2541,582,ENSG00000100299,ENST00000547805,,ARSA,0.77,probably_damaging,1,deleterious,0,3.92032,19.94,P15289_R390W,R,W,390,RW,R390W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.331,-5.243,3.912,0.047,E,B,1.67,-1.13,0.244,,66.47,0.00145886,0,0.04975,0.465129
5731,P15289,G,R,245,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,1450,115,ENSG00000100299,ENST00000547805,,ARSA,0.48,probably_damaging,1,deleterious,0,3.9171,19.92,P15289_G245R,G,R,245,GR,G245R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,0.379,H,P,0.91,-0.06,,,,0.00175932,0,0.0599965,0.694668
5732,P15289,R,C,244,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,0,0,0,,,,,,1447,118,ENSG00000100299,ENST00000547805,,ARSA,0.48,probably_damaging,1,deleterious,0,3.01326,16.05,P15289_R244C,R,C,244,RC,R244C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.15,S,A,1.66,-0.9,,,,0.0033363,0,0.113775,0.518131
5734,P15289,A,V,224,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,0,0,0,,,,,,1315,250,ENSG00000100299,ENST00000547805,,ARSA,0.44,probably_damaging,0.99,deleterious,0.01,4.72764,26.3,P15289_A224V,A,V,224,AV,A224V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.326,-3.09,1.764,,E,B,0.44,-0.39,1.823,,56.41,0.00324698,0,0.110729,0.72028
5755,Q8NBK3,M,R,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.62,0.11,,,,,,,,,2,105135,ENSG00000144455,ENST00000458465,,SUMF1,0,probably_damaging,0.913,deleterious,0,3.77016,19.14,Q8NBK3_M1R,M,R,1,MR,M1R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.71,-3.443,1.733,,,,,,,,,0.000683327,0,0.0233029,0.910757
5756,Q8NBK3,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.62,0.11,,,,,,,,,1,105136,ENSG00000144455,ENST00000458465,,SUMF1,0,possibly_damaging,0.7,deleterious,0,3.83386,19.47,Q8NBK3_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.71,-2.589,0.879,,,,,,,,,0.000683327,0,0.0233029,0.93877
5757,Q14643,P,L,1068,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,166980,163239,ENSG00000150995,ENST00000443694,CCDS54551.1,ITPR1,0.39,possibly_damaging,0.686,deleterious,0,4.88659,28.1,Q14643_P1068L,P,L,1068,PL,P1068L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
5803,Q9UBU3,L,M,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,0.059,0.023,0.077,0.09,0.19,0.06,0.01,0.08,35,308,ENSG00000157017,ENST00000422159,,GHRL,0.79,possibly_damaging,0.744,deleterious,0.01,2.30467,13.66,Q9UBU3_L72M,L,M,72,LM,L72M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,-1.039,-3.622,2.583,,,,,,,,,0.0147527,0.0222222,0.503099,0.801068
5820,Q9BTV4,S,L,358,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,16725,2015,ENSG00000170876,ENST00000306077,CCDS2618.1,TMEM43,0.9,probably_damaging,0.988,deleterious,0.02,5.49327,35,Q9BTV4_S358L,S,L,358,SL,S358L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.363,-3.129,1.766,,,,,,3.304,,55.5,0.00607152,0,0.207051,0.886512
5856,P37173,G,W,357,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,65651,21883,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.63,probably_damaging,1,deleterious,0,4.3694,23.1,P37173_G357W,G,W,357,GW,G357W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-0.861,-4.874,4.013,,,,,,,,,,,,0.734078
5907,Q14524,A,T,1870,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,0,0,0,,,,,,82715,281,ENSG00000183873,ENST00000449557,,SCN5A,0.95,probably_damaging,0.966,deleterious,0.03,4.6379,25.4,Q14524_A1870T,A,T,1870,AT,A1870T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.388,-2.12,0.732,0.505,G,A,0.22,0,15.793,15.793,79.2,,,,0.952856
5912,Q14524,S,L,1656,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,82074,922,ENSG00000183873,ENST00000449557,,SCN5A,0.84,probably_damaging,0.973,deleterious,0,4.18856,21.7,Q14524_S1656L,S,L,1656,SL,S1656L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,,,,0.932753
5913,Q14524,R,H,1590,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,81876,1120,ENSG00000183873,ENST00000449557,,SCN5A,0.81,probably_damaging,0.993,deleterious,0,4.57681,24.9,Q14524_R1590H,R,H,1590,RH,R1590H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
5949,P08590,E,K,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,3914,1657,ENSG00000160808,ENST00000395869,CCDS2746.1,MYL3,0.73,possibly_damaging,0.811,deleterious,0,5.57806,35,P08590_E143K,E,K,143,EK,E143K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,0.348,S,a,1.3,1.59,,,,0.00476603,0,0.162532,0.862165
5952,Q03431,E,X,155,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,5391,623,ENSG00000160801,ENST00000430002,CCDS2747.1,PTH1R,0.26,,,,,4.40081,23.3,Q03431_E155X,E,X,155,EX,E155X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00191942,0,0.0654561,0.96137
5965,Q02388,M,K,2798,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,942,260,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.95,,,,,2.38417,13.93,Q02388_M2798K,M,K,2798,MK,M2798K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.406,-3.274,1.868,,,,,,,,,,,,0.843452
5979,Q02388,G,D,1519,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.01,,,,,,,,,1905,18543,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.52,probably_damaging,0.995,,,2.60909,14.68,Q02388_G1519D,G,D,1519,GD,G1519D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.218,-3.19,1.972,,,,,,4.438,,53.26,,,,0.820643
5980,Q02388,Y,X,311,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,2548,28540,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.11,,,,,5.38409,34,Q02388_Y311X,Y,X,311,YX,Y311X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
6136,P41180,G,E,670,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,29801,1325,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.62,probably_damaging,0.999,deleterious,0,4.44503,23.7,P41180_G670E,G,E,670,GE,G670E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.708,-3.658,2.95,,,,,,3.197,,34.88,0.000268685,0,0.0091627,0.816337
6144,P41180,F,L,881,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.16,,,,,,,,,30433,693,ENSG00000036828,ENST00000296154,CCDS3010.1,CASR,0.82,benign,0.286,tolerated,0.12,3.26086,16.94,P41180_F881L,F,L,881,FL,F881L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.885,-2.095,0.21,,,,,,12.854,12.854,59.55,0.000517543,0,0.0176493,1.00148
6145,Q96N76,R,C,510,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,19613,16286,ENSG00000159650,ENST00000383579,CCDS54636.1,UROC1,0.69,probably_damaging,1,deleterious,0,4.28731,22.4,Q96N76_R510C,R,C,510,RC,R510C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.000827045,0,0.0282039,0.776892
6171,P08100,G,D,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,434,6096,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.33,probably_damaging,1,deleterious,0,4.98771,29.2,P08100_G114D,G,D,114,GD,G114D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,H,A,0.46,-0.81,,,,0.00124573,0,0.0424818,0.566563
6184,P08100,E,X,249,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,0,0,0,,,,,,3941,2589,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.72,,,,,6.40061,37,P08100_E249X,E,X,249,EX,E249X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000205961,0,0.00702369,0.980139
6407,P35913,H,N,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,701,173,ENSG00000133256,ENST00000496514,CCDS33932.1,PDE6B,0.3,probably_damaging,0.998,tolerated,0.07,4.84193,27.6,P35913_H258N,H,N,258,HN,H258N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,-1.311,-3,1.689,,,,,,,,,0.000576052,0,0.0196446,0.911261
6434,P22607,I,V,426,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,1144,224,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,0.61,,,deleterious,0.01,2.08131,12.92,P22607_I426V,I,V,426,IV,I426V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.0012719,0,0.0433745,0.928516
6435,P22607,N,T,428,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,1151,217,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,0.62,,,deleterious,0,3.65642,18.59,P22607_N428T,N,T,428,NT,N428T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,-1.501,-2.934,1.433,,,,,,7.561,,92.06,0.00112425,0,0.0383392,0.971919
6436,P22607,N,S,428,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,,,,,,,,,1151,217,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,0.62,,,deleterious,0,3.72163,18.9,P22607_N428S,N,S,428,NS,N428S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.501,-1.724,0.223,,,,,,20.246,20.246,92.06,0.00112425,0,0.0383392,1.01833
6457,P28360,S,X,208,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.17,,,,,,,,,426,175,ENSG00000163132,ENST00000382723,CCDS3378.2,MSX1,0.69,,,,,7.84825,39,P28360_S208X,S,X,208,SX,S208X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00138168,0,0.0471182,0.902951
6695,Q695T7,D,N,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,0.002,0,0.003,0.002,,,0.002,0.004,10743,10933,ENSG00000174358,ENST00000304460,CCDS34130.1,SLC6A19,0.27,benign,0.042,tolerated,0.63,2.22092,13.38,Q695T7_D173N,D,N,173,DN,D173N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.369,-3.205,1.836,,,,,,2.488,,56.62,0.00130945,0,0.0446549,0.947077
6707,O14746,T,M,726,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.17,0,0,0,,,,,,4261,12300,ENSG00000164362,ENST00000296820,,TERT,0.9,benign,0.003,tolerated,0.08,1.03942,9.246,O14746_T726M,T,M,726,TM,T726M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.407,-4.294,1.887,,,,,,2.277,,79.24,0.00117516,0,0.0400755,0.948357
6713,O14746,R,Q,631,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,2795,13766,ENSG00000164362,ENST00000296820,,TERT,0.78,probably_damaging,0.999,deleterious,0.01,3.15151,16.54,O14746_R631Q,R,Q,631,RQ,R631Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.00024944,0,0.00850641,0.857272
6888,Q15582,R,C,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,661,35,ENSG00000120708,ENST00000442011,CCDS47266.1,TGFBI,0.18,probably_damaging,0.979,deleterious,0,4.04216,20.7,Q15582_R124C,R,C,124,RC,R124C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.664,-4.827,3.163,,,,,,1.294,,71.01,0.00101853,0,0.034734,0.896465
6889,Q15582,R,H,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,662,34,ENSG00000120708,ENST00000442011,CCDS47266.1,TGFBI,0.18,probably_damaging,0.979,deleterious,0.01,4.77391,26.8,Q15582_R124H,R,H,124,RH,R124H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.664,-4.266,2.602,,,,,,1.371,,71.01,0.00101853,0,0.034734,0.951946
6890,Q15582,R,L,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,662,34,ENSG00000120708,ENST00000442011,CCDS47266.1,TGFBI,0.18,probably_damaging,0.926,deleterious,0.01,4.67312,25.8,Q15582_R124L,R,L,124,RL,R124L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.664,-3.241,1.577,,,,,,3.117,,71.01,0.00101853,0,0.034734,1.04579
6908,Q9UH77,M,T,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,35593,41,ENSG00000146021,ENST00000506491,,KLHL3,0.68,probably_damaging,1,deleterious,0.03,4.59587,25,Q9UH77_M345T,M,T,345,MT,M345T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.073,-3.192,1.119,0.089,E,B,0.77,-0.12,3.674,,73.59,0.00250369,0,0.0853809,0.769254
6940,Q15319,L,P,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,1071,426,ENSG00000091010,ENST00000230732,CCDS4281.1,POU4F3,0.66,probably_damaging,0.999,deleterious,0,2.77866,15.25,Q15319_L223P,L,P,223,LP,L223P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,,,,,,,,,0.00195998,0,0.0668395,0.787931
6951,Q8TF17,R,C,658,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,3857,626,ENSG00000169247,ENST00000515425,CCDS4293.1,SH3TC2,0.51,probably_damaging,0.992,deleterious,0,3.65553,18.58,Q8TF17_R658C,R,C,658,RC,R658C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-5.008,3.727,,,,,,0.468,,53.34,0.000447036,0,0.0152448,0.807316
6952,Q8TF17,E,K,657,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,3854,623,ENSG00000169247,ENST00000515425,CCDS4293.1,SH3TC2,0.51,probably_damaging,0.998,deleterious,0,4.23997,22.1,Q8TF17_E657K,E,K,657,EK,E657K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.972,-2.882,1.91,,,,,,,,,0.000193026,0,0.0065826,0.901922
6957,P16499,W,X,561,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,49566,37272,ENSG00000132915,ENST00000255266,CCDS4299.1,PDE6A,0.65,,,,,8.34761,40,P16499_W561X,W,X,561,WX,W561X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
7004,Q16143,P,H,123,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.03,0,0,0,0.001,,,0.002,0.001,8777,4,ENSG00000074317,ENST00000393693,CCDS4406.1,SNCB,0.92,,,tolerated,0.09,1.72202,11.72,Q16143_P123H,P,H,123,PH,P123H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.68,-4.37,2.69,,,,,,1.668,,54.48,0.0123329,0,0.420577,0.772237
7011,Q06495,V,M,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,2022,183,ENSG00000131183,ENST00000512593,CCDS54953.1,SLC34A1,0.43,possibly_damaging,0.893,deleterious,0.01,5.00251,29.4,Q06495_V147M,V,M,147,VM,V147M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.205,-3.9,2.695,,,,,,1.734,,46.95,0.00218403,0,0.07448,0.865831
7022,O75360,R,Q,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,2091,1917,ENSG00000175325,ENST00000308304,CCDS4430.1,PROP1,0.44,probably_damaging,0.998,deleterious,0,3.10468,16.37,O75360_R99Q,R,Q,99,RQ,R99Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.312,-2.242,0.93,,,,,,5.112,5.112,23.89,0.000673767,0,0.0229768,0.95332
7043,P35916,L,P,1044,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,2683,2369,ENSG00000037280,ENST00000261937,CCDS4457.1,FLT4,0.77,probably_damaging,0.999,deleterious,0,4.07211,20.9,P35916_L1044P,L,P,1044,LP,L1044P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00040215,0,0.0137141,0.800252
7053,Q12948,S,L,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.16,,,,,,,,,391,3056,ENSG00000054598,ENST00000380874,CCDS4473.1,FOXC1,0.24,probably_damaging,0.999,deleterious,0,4.72076,26.3,Q12948_S131L,S,L,131,SL,S131L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.239,-3.135,1.896,,,,,,,,,0.000389161,0,0.0132712,0.882426
7116,Q99519,V,M,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,0,0.001,0,0.001,,,0.002,,2209,1353,ENSG00000204386,ENST00000375631,CCDS4723.1,NEU1,0.52,possibly_damaging,0.544,deleterious,0,3.76027,19.09,Q99519_V217M,V,M,217,VM,V217M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.113,-3.847,2.734,,,,,,,,,0.00463254,0,0.157979,0.782534
7119,P22105,V,M,1108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.13,0.001,0,0.001,,,,,,24839,43381,ENSG00000168477,ENST00000375247,,TNXB,0.26,probably_damaging,0.992,deleterious,0.02,2.69368,14.97,P22105_V1108M,V,M,1108,VM,V1108M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,,,,0.960968
7134,Q8TAF8,T,M,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,3382,4821,ENSG00000197753,ENST00000360215,CCDS4812.1,LHFPL5,0.75,probably_damaging,0.999,deleterious,0,4.99921,29.4,Q8TAF8_T165M,T,M,165,TM,T165M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.245,-4.215,2.97,,,,,,,,,0.00787499,0,0.268554,0.752585
7136,Q9NZB8,R,W,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,217,1640,ENSG00000124615,ENST00000425303,,MOCS1,0.11,probably_damaging,1,deleterious,0,4.51388,24.3,Q9NZB8_R73W,R,W,73,RW,R73W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,0.000470386,0,0.0160411,0.802714
7147,P23942,Y,X,258,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.08,,,,,,,,,18156,7817,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.75,,,,,6.92885,38,P23942_Y258X,Y,X,258,YX,Y258X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00477134,0,0.162712,0.931534
7160,Q14999,H,P,1548,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,14809,1271,ENSG00000044090,ENST00000535468,CCDS55003.1,CUL7,0.87,benign,0.41,deleterious,0,3.25284,16.91,Q14999_H1548P,H,P,1548,HP,H1548P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,,,,,,,,,,,,,,,0.948808
7291,O95278,G,S,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,58720,2206,ENSG00000112425,ENST00000367519,CCDS5206.1,EPM2A,0.84,probably_damaging,0.996,deleterious,0.01,5.85206,36,O95278_G279S,G,S,279,GS,G279S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,0.00620425,0,0.211578,0.795404
7363,P29972,P,L,38,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.15,,,,,,,,,167,11791,ENSG00000240583,ENST00000311813,CCDS5431.1,AQP1,0.14,possibly_damaging,0.798,deleterious,0,3.83603,19.48,P29972_P38L,P,L,38,PL,P38L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.587,-3.61,2.023,0.752,S,b,1.07,0.85,11.588,,91.82,0.00452466,0.004329,0.1543,0.811681
7389,P10071,Y,X,1108,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.17,,,,,,,,,186706,1667,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.7,,,,,7.14206,38,P10071_Y1108X,Y,X,1108,YX,Y1108X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000702997,0,0.0239736,0.970188
7401,P10071,R,X,643,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,5410,73,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.41,,,,,7.70074,39,P10071_R643X,R,X,643,RX,R643X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000115573,0,0.00394126,0.984992
7427,P35557,G,R,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.01,0,0,0,,,,,,6856,972,ENSG00000106633,ENST00000403799,CCDS5479.1,GCK,0.15,probably_damaging,0.999,deleterious,0,4.95599,28.9,P35557_G72R,G,R,72,GR,G72R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.299,E,p,0.91,0.39,,,,0.00069604,0,0.0237364,0.742376
7430,Q9BSQ5,L,R,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,69,1995,ENSG00000136280,ENST00000541586,CCDS55109.1,CCM2,0.36,possibly_damaging,0.718,deleterious,0,4.16515,21.5,Q9BSQ5_L140R,L,R,140,LR,L140R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.00130694,0,0.0445693,0.902375
7451,P08236,L,F,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,0,0,0,,,,,,274,241,ENSG00000169919,ENST00000345660,,GUSB,0.29,probably_damaging,0.915,deleterious,0,4.28554,22.4,P08236_L176F,L,F,176,LF,L176F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.039,-3.434,2.395,0.029,.,B,0.03,-0.4,,,,0.002075,0,0.0707616,0.690544
7453,P04424,R,C,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,0,0,0,,,,,,78,745,ENSG00000126522,ENST00000380839,CCDS47598.1,ASL,0.22,probably_damaging,0.977,deleterious,0,3.16297,16.58,P04424_R95C,R,C,95,RC,R95C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,0.098,H,A,1.66,1.96,,,,0.00233125,0,0.0795003,0.5812
7456,#N/A,R,C,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.03,0,0,0,,,,,,2839,840,ENSG00000249319,ENST00000450043,,AC068533.7,0.51,probably_damaging,0.995,deleterious,0,3.75769,19.08,#N/A_R148C,R,C,148,RC,R148C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
7472,P16435,Y,D,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,140,25,ENSG00000127948,ENST00000394893,,POR,0.29,probably_damaging,0.998,deleterious,0,4.38201,23.2,P16435_Y181D,Y,D,181,YD,Y181D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,,,,,,,,,,,,0.0021697,0,0.0739911,0.941922
7477,P16435,V,F,608,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,595,376,ENSG00000127948,ENST00000394893,,POR,0.96,probably_damaging,0.997,deleterious,0,2.32373,13.73,P16435_V608F,V,F,608,VF,V608F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,,,,,,,,,,,,0.00456004,0,0.155507,0.943081
7481,P04792,P,S,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,522,162,ENSG00000106211,ENST00000248553,CCDS5583.1,HSPB1,0.89,probably_damaging,1,deleterious,0,3.74897,19.04,P04792_P182S,P,S,182,PS,P182S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.966,-3.203,2.237,,,,,,,,,0.0108493,0.0434783,0.369984,0.769234
7482,P04792,P,L,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,523,161,ENSG00000106211,ENST00000248553,CCDS5583.1,HSPB1,0.89,probably_damaging,1,deleterious,0,3.80192,19.3,P04792_P182L,P,L,182,PL,P182L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.0108493,0.0434783,0.369984,0.751163
7532,Q9UP52,R,H,9,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,0.001,0,0.001,,,,,,690,692,ENSG00000106327,ENST00000544242,,TFR2,0.03,probably_damaging,0.997,deleterious,0.05,4.90015,28.2,Q9UP52_R9H,R,H,9,RH,R9H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000225019,0,0.00767362,1.0021
7661,O43316,R,W,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,1406,2053,ENSG00000106331,ENST00000463946,,PAX4,0.48,probably_damaging,1,deleterious,0,3.90761,19.87,O43316_R162W,R,W,162,RW,R162W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
7665,P20839,V,I,320,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,2255,17,ENSG00000106348,ENST00000419067,CCDS47699.1,IMPDH1,0.57,benign,0.197,tolerated,0.11,2.96828,15.9,P20839_V320I,V,I,320,VI,V320I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,,,,0.959636
7731,Q12809,A,V,561,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.19,,,,,,,,,4100,2277,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.48,probably_damaging,0.964,deleterious,0,4.518,24.3,Q12809_A561V,A,V,561,AV,A561V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.088,-2.856,1.768,,,,,,,,,0.000292898,0,0.00998843,0.910691
7732,Q12809,A,P,558,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.2,,,,,,,,,4090,2287,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.48,probably_damaging,0.991,deleterious,0,4.0772,21,Q12809_A558P,A,P,558,AP,A558P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.175,-3.39,2.215,,,,,,,,,0.0006008,0,0.0204885,0.845497
7815,P11686,I,T,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,17,140,ENSG00000168484,ENST00000521315,CCDS55209.1,SFTPC,0.38,possibly_damaging,0.675,deleterious,0,3.16479,16.59,P11686_I73T,I,T,73,IT,I73T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.601,-3.261,1.66,,,,,,3.281,,81.22,0.00686048,0,0.233957,0.910656
7840,P49675,R,C,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,2704,313,ENSG00000147465,ENST00000522050,,STAR,0.67,probably_damaging,0.998,deleterious,0,4.41899,23.5,P49675_R167C,R,C,167,RC,R167C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00431671,0,0.147209,0.917956
7846,P11362,P,S,631,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,198,440,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.86,probably_damaging,1,deleterious,0,4.97983,29.1,P11362_P631S,P,S,631,PS,P631S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.00103038,0,0.0351379,0.924933
7848,P11362,R,X,531,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,916,113,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.73,,,,,11.2603,44,P11362_R531X,R,X,531,RX,R531X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000213054,0,0.00726559,0.977351
7849,P11362,R,X,518,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.03,,,,,,,,,25,95,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.71,,,,,12.0663,45,P11362_R518X,R,X,518,RX,R518X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000612684,0,0.0208938,0.977351
7858,P11362,R,Q,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,75,13,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.22,possibly_damaging,0.583,deleterious,0,5.99362,37,P11362_R159Q,R,Q,159,RQ,R159Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00113097,0,0.0385684,0.925972
7863,P16157,R,X,993,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,615,41,ENSG00000029534,ENST00000520299,,ANK1,0.96,,,,,6.18058,37,P16157_R993X,R,X,993,RX,R993X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8021,P19099,R,W,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,2744,1407,ENSG00000179142,ENST00000323110,CCDS6393.1,CYP11B2,0.36,probably_damaging,0.961,deleterious,0,1.42534,10.7,P19099_R181W,R,W,181,RW,R181W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.337,-5.002,3.665,,,,,,0.701,,72.96,0.00244266,0,0.0832998,0.84684
8028,Q8TDN2,E,X,143,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.2,,,,,,,,,664,11872,ENSG00000168263,ENST00000382082,CCDS6447.1,KCNV2,0.26,,,,,6.65934,38,Q8TDN2_E143X,E,X,143,EX,E143X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00195454,0,0.066654,0.96137
8225,P13716,V,M,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,12036,707,ENSG00000148218,ENST00000277315,,ALAD,0.82,probably_damaging,0.98,deleterious,0,4.96801,29,P13716_V258M,V,M,258,VM,V258M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00334655,0,0.114124,0.978315
8272,Q6P1M0,R,H,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,15042,5448,ENSG00000167114,ENST00000372870,,SLC27A4,0.75,probably_damaging,1,deleterious,0,4.80316,27.1,Q6P1M0_R177H,R,H,177,RH,R177H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00294125,0,0.100303,0.975921
8281,P00966,R,C,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,0,0,0,,,,,,37,13032,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.21,benign,0.099,deleterious,0.02,3.70419,18.82,P00966_R86C,R,C,86,RC,R86C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.521,T,a,1.66,-0.41,,,,0.00399197,0.00306749,0.136134,0.624075
8302,Q9Y6A1,R,X,340,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.21,,,,,,,,,177,2387,ENSG00000130714,ENST00000419118,,POMT1,0.59,,,,,6.51192,37,Q9Y6A1_R340X,R,X,340,RX,R340X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8332,Q9NRR6,R,Q,435,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,7261,3943,ENSG00000148384,ENST00000371712,CCDS7000.1,INPP5E,0.68,probably_damaging,1,deleterious,0,5.64722,36,Q9NRR6_R435Q,R,Q,435,RQ,R435Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,H,A,0.56,-0.64,,,,0.00133349,0,0.0454749,0.657321
8448,Q96QS3,E,X,369,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.03,,,,,,,,,5675,6580,ENSG00000004848,ENST00000379044,CCDS14215.1,ARX,0.66,,,,,7.22034,38,Q96QS3_E369X,E,X,369,EX,E369X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000865546,0,0.0295169,0.980139
8825,Q6W2J9,P,L,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,2878,3186,ENSG00000183337,ENST00000397354,CCDS14250.1,BCOR,0.05,probably_damaging,1,deleterious,0,3.09928,16.35,Q6W2J9_P85L,P,L,85,PL,P85L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.328,-3.449,2.121,,,,,,1.332,,35.38,,,,0.806388
8840,Q00604,R,L,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,107,157,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.91,probably_damaging,0.926,deleterious,0,5.40616,34,Q00604_R121L,R,L,121,RL,R121L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.398,-3.094,1.696,,,,,,,,,0.0157356,0,0.536616,0.849977
8841,Q00604,R,W,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,108,158,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.91,probably_damaging,0.975,deleterious,0,4.11133,21.2,Q00604_R121W,R,W,121,RW,R121W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.0157356,0,0.536616,0.770507
8843,Q00604,A,T,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,156,206,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.79,probably_damaging,0.956,deleterious,0,4.62526,25.3,Q00604_A105T,A,T,105,AT,A105T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.175,-2.932,1.757,,,,,,,,,0.0110513,0,0.376871,0.847343
8848,Q00604,S,C,75,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,245,295,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.56,benign,0.371,deleterious,0,2.69004,14.96,Q00604_S75C,S,C,75,SC,S75C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.348,-4.373,3.025,,,,,,,,,0.0121705,0,0.41504,0.750535
8849,Q00604,S,X,73,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.09,,,,,,,,,251,301,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.55,,,,,6.1229,37,Q00604_S73X,S,X,73,SX,S73X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.0161243,0,0.549873,0.940564
8859,O75695,Q,X,26,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.17,,,,,,,,,236,45183,ENSG00000102218,ENST00000218340,CCDS14270.1,RP2,0.07,,,,,6.82177,38,O75695_Q26X,Q,X,26,QX,Q26X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00293149,0,0.09997,0.955443
8892,P42768,I,N,481,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,403,172,ENSG00000015285,ENST00000376701,CCDS14303.1,WAS,0.96,,,deleterious,0,2.66956,14.89,P42768_I481N,I,N,481,IN,I481N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.212,-3.94,2.728,,,,,,,,,0.000558683,0,0.0190522,0.799939
8919,Q9ULL8,S,L,1089,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,35808,14558,ENSG00000158352,ENST00000376020,CCDS35277.1,SHROOM4,0.73,benign,0,,,-0.743862,0.835,Q9ULL8_S1089L,S,L,1089,SL,S1089L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-3.307,-2.386,-0.921,,,,,,31.012,31.012,93.64,,,,0.995289
8921,O95972,R,C,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,0,0,0,,,,,,225,5599,ENSG00000130385,ENST00000252677,CCDS14334.1,BMP15,0.19,probably_damaging,0.966,deleterious,0.01,1.65223,11.48,O95972_R76C,R,C,76,RC,R76C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.626,-2.929,1.303,,,,,,28.727,28.727,73.98,,,,0.879001
8948,P98174,R,Q,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.09,,,,,,,,,28266,22447,ENSG00000102302,ENST00000375135,CCDS14359.1,FGD1,0.42,probably_damaging,0.953,deleterious,0.01,4.92473,28.5,P98174_R408Q,R,Q,408,RQ,R408Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.543,-3.33,1.787,,,,,,1.473,,42.98,,,,0.830251
8953,P22557,R,C,439,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,5604,5717,ENSG00000158578,ENST00000396198,CCDS43960.1,ALAS2,0.76,probably_damaging,0.99,deleterious,0.01,2.78254,15.27,P22557_R439C,R,C,439,RC,R439C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00255097,0,0.0869932,0.938419
9061,P08034,F,C,235,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,0.003,0.008,0,0.002,,,0.01,,1205,451,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.83,benign,0.299,tolerated,0.17,-0.372202,2.248,P08034_F235C,F,C,235,FC,F235C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-2.251,-4.808,2.557,,,,,,1.199,,78.09,0.0085013,0.0208333,0.289912,0.773815
9109,Q9Y458,E,X,56,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,193,220,ENSG00000122145,ENST00000373294,CCDS14445.1,TBX22,0.11,,,,,2.89444,15.64,Q9Y458_E56X,E,X,56,EX,E56X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00137895,0,0.0470252,0.902682
9415,P29400,G,S,1232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,228526,29134,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.73,,,deleterious,0.01,4.55912,24.7,P29400_G1232S,G,S,1232,GS,G1232S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,1.1e-05,0,0.000374716,0.865373
9543,Q13642,C,R,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,2260,383,ENSG00000022267,ENST00000370690,CCDS14655.1,FHL1,0.37,probably_damaging,0.997,deleterious,0,4.20343,21.8,Q13642_C104R,C,R,104,CR,C104R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,0.000713924,0,0.0243463,0.799269
9564,O60481,Q,X,249,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.17,,,,,,,,,918,4150,ENSG00000156925,ENST00000287538,CCDS14663.1,ZIC3,0.53,,,,,9.69943,42,O60481_Q249X,Q,X,249,QX,Q249X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000919351,0,0.0313518,0.98231
9566,O60481,C,X,268,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,977,4091,ENSG00000156925,ENST00000287538,CCDS14663.1,ZIC3,0.57,,,,,8.73243,41,O60481_C268X,C,X,268,CX,C268X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000510158,0,0.0173974,0.980504
9676,P48029,C,W,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.08,,,,,,,,,94,612,ENSG00000130821,ENST00000430077,CCDS48190.1,SLC6A8,0.43,probably_damaging,1,deleterious,0,3.58615,18.27,P48029_C222W,C,W,222,CW,C222W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,0.001316,0,0.0448784,0.892054
9679,P48029,R,X,399,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.11,,,,,,,,,1115,1,ENSG00000130821,ENST00000430077,CCDS48190.1,SLC6A8,0.77,,,,,5.24688,33,P48029_R399X,R,X,399,RX,R399X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00183862,0,0.0627009,0.959275
9697,P32004,D,N,600,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,344,374,ENSG00000198910,ENST00000538883,,L1CAM,0.48,probably_damaging,1,deleterious,0,5.18247,32,P32004_D600N,D,N,600,DN,D600N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00060552,0,0.0206495,1.0027
9709,P30518,A,D,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,,,,,,,,,787,881,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.36,probably_damaging,0.999,deleterious,0,3.81377,19.37,P30518_A132D,A,D,132,AD,A132D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.013,-3.511,2.498,,,,,,,,,0.00330348,0,0.112656,0.780553
9720,P51608,E,X,455,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.13,,,,,,,,,27306,231,ENSG00000169057,ENST00000303391,CCDS14741.1,MECP2,0.94,,,,,6.34886,37,P51608_E455X,E,X,455,EX,E455X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00336022,0,0.11459,0.953272
9736,P21333,G,C,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.12,,,,,,,,,30,830,ENSG00000196924,ENST00000438732,,FLNA,0.05,probably_damaging,1,deleterious,0,4.41739,23.4,P21333_G11C,G,C,11,GC,G11C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,,,,,,,,,,,,1.49e-05,0,0.000509089,0.979172
9757,Q16635,G,R,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.05,,,,,,,,,46,6,ENSG00000102125,ENST00000475699,,TAZ,0.64,probably_damaging,0.999,deleterious,0,4.35234,22.9,Q16635_G170R,G,R,170,GR,G170R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00623481,0,0.21262,0.924021
9762,P11413,N,D,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.11,0.114,0.312,0.001,0.08,,0.04,0.32,0.01,10833,202,ENSG00000160211,ENST00000440967,,G6PD,0.39,benign,0.001,tolerated,0.28,0.085705,4.463,P11413_N126D,N,D,126,ND,N126D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-2.03,-2.453,0.423,0.362,H,A,0.14,0.7,36.324,36.324,91.56,0.00327458,0,0.11167,0.981293
9763,#N/A,R,X,50,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.62,0.07,,,,,,,,,15,4675,ENSG00000073009,ENST00000413620,,IKBKG,0.26,,,,,7.76503,39,#N/A_R50X,R,X,50,RX,R50X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9764,#N/A,L,R,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,6599,44,ENSG00000073009,ENST00000413620,,IKBKG,0.72,probably_damaging,0.971,deleterious,0.01,3.78371,19.21,#N/A_L141R,L,R,141,LR,L141R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,,,,0.946893
9766,#N/A,A,G,288,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.07,,,,,,,,,506,9,ENSG00000073009,ENST00000369606,CCDS14757.1,IKBKG,0.69,possibly_damaging,0.818,deleterious,0.02,4.12918,21.3,#N/A_A288G,A,G,288,AG,A288G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,,,,,,,,,,,,,,,0.952592
9769,#N/A,D,V,406,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,2020,435,ENSG00000073009,ENST00000369606,CCDS14757.1,IKBKG,0.97,probably_damaging,0.999,deleterious,0,3.7998,19.29,#N/A_D406V,D,V,406,DV,D406V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,,,,0.933866
9770,#N/A,M,V,407,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.62,0.04,,,,,,,,,2022,437,ENSG00000073009,ENST00000369606,CCDS14757.1,IKBKG,0.97,benign,0.038,deleterious,0.01,2.40947,14.02,#N/A_M407V,M,V,407,MV,M407V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,,,,0.948715
9773,#N/A,X,W,420,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.62,0.09,,,,,,,,,2062,477,ENSG00000073009,ENST00000369606,CCDS14757.1,IKBKG,1,,,,,1.17513,9.78,#N/A_X420W,X,W,420,XW,X420W,Stop,Hydrophobic,5.71,5.89,0.18,132.5,204,71.5,141.9,227.8,85.9,,,,,,,,,,,,,,,,0.934041
11,Q9P202,A,T,440,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.09,0.18,0.083,0.23,0.24,0.36,0.34,0.06,0.21,1640,22351,ENSG00000095397,ENST00000362057,CCDS6806.1,DFNB31,0.49,benign,0.004,tolerated,0.09,2.63465,14.77,Q9P202_A440T,A,T,440,AT,A440T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.703,-2.563,0.86,,,,,,21.365,21.365,86.88,0.000606455,0,0.023984,0.990306
15,Q9P202,R,H,364,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.16,0.981,0.943,1,0.99,1,0.99,0.94,1,215,24205,ENSG00000095397,ENST00000362057,CCDS6806.1,DFNB31,0.4,benign,0,tolerated,1,0.680538,7.639,Q9P202_R364H,R,H,364,RH,R364H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-3.066,-1.852,-1.214,,,,,,32.749,32.749,37.71,0.000548579,0,0.0216951,1.02216
33,Q9HC10,G,D,1888,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.13,,,,,,,,,17142,3697,ENSG00000115155,ENST00000403946,,OTOF,0.95,probably_damaging,1,deleterious,0,5.01729,29.6,Q9HC10_G1888D,G,D,1888,GD,G1888D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.692,-3.572,2.88,,,,,,1.404,,48.07,,,,0.77244
34,Q9HC10,P,S,1646,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.09,0.158,0.442,0.013,0.13,,0.07,0.52,0.01,1433,1387,ENSG00000115155,ENST00000403946,,OTOF,0.82,benign,0.03,tolerated,0.13,1.94911,12.47,Q9HC10_P1646S,P,S,1646,PS,P1646S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.826,-2.657,0.831,,,,,,6.577,4.636,23.79,,,,0.880358
53,Q9H251,T,S,2002,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.05,0.414,0.27,0.486,0.33,0.17,0.37,0.23,0.5,393423,25537,ENSG00000107736,ENST00000224721,,CDH23,0.6,benign,0.006,tolerated,0.33,1.66378,11.52,Q9H251_T2002S,T,S,2002,TS,T2002S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,,,,,,,,,,,,,,,0.953324
104,Q8TD43,R,H,252,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.16,0.004,0.001,0.006,,,,,,10853,43140,ENSG00000130529,ENST00000427978,CCDS56098.1,TRPM4,0.24,possibly_damaging,0.772,deleterious,0.01,3.11914,16.42,Q8TD43_R252H,R,H,252,RH,R252H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.974,-3.403,1.429,,,,,,12.715,12.715,24.79,0.000789403,0,0.0312192,0.950013
151,Q13402,L,S,16,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.08,0.469,0.724,0.342,0.49,0.47,0.43,0.79,0.32,14435,42259,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.01,benign,0,tolerated,1,-0.065832,3.679,Q13402_L16S,L,S,16,LS,L16S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-2.965,-2.068,-0.897,,,,,,20.662,20.662,93.68,,,,0.959912
204,P35579,V,E,967,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.07,,,,,,,,,1512,708,ENSG00000100345,ENST00000216181,CCDS13927.1,MYH9,0.49,possibly_damaging,0.642,deleterious,0.01,5.0057,29.4,P35579_V967E,V,E,967,VE,V967E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.317,-3.4,2.083,,,,,,7.752,,76.43,6.87e-05,0,0.00271697,0.897768
226,P21964,V,M,18,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.12,0.451,0.315,0.522,0.39,0.29,0.39,0.31,0.52,6,87,ENSG00000093010,ENST00000428707,,COMT,0.12,benign,0.428,tolerated,0.08,1.28071,10.19,P21964_V18M,V,M,18,VM,V18M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,,,,0.960968
228,P21817,A,T,1577,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.11,,,,,,,,,49611,104254,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.31,possibly_damaging,0.718,,,4.35081,22.9,P21817_A1577T,A,T,1577,AT,A1577T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.335,-2.673,1.338,,,,,,9.206,9.206,36.88,,,,0.855425
230,P21817,A,V,4841,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.09,,,,,,,,,146695,7170,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.96,,,,,3.40583,17.5,P21817_A4841V,A,V,4841,AV,A4841V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,,,,0.954618
253,P21817,M,T,402,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.08,,,,,,,,,18146,135719,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.08,benign,0.041,,,1.1505,9.686,P21817_M402T,M,T,402,MT,M402T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.607,-3.483,0.876,,,,,,2.81,,33.64,,,,0.868681
289,P13498,Y,H,72,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.13,0.622,0.553,0.657,0.7,0.94,0.65,0.5,0.66,3,687,ENSG00000051523,ENST00000567174,,CYBA,0.34,probably_damaging,0.998,tolerated,0.16,2.2258,13.4,P13498_Y72H,Y,H,72,YH,Y72H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.826,-2.945,1.119,,,,,,31.954,31.954,89.74,0.00828939,0,0.327828,0.928388
310,P04637,P,R,72,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.63,0.07,0.63,0.405,0.745,0.6,0.61,0.72,0.33,0.72,441,925,ENSG00000141510,ENST00000508793,,TP53,0.44,benign,0.033,tolerated,0.19,0.823228,8.316,P04637_P72R,P,R,72,PR,P72R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-2.097,-3.946,1.849,,,,,,5.52,,41.98,0.00177177,0,0.0700697,0.891725
7,O75161,Q,X,779,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.12,,,,,,,,,17889,941,ENSG00000131697,ENST00000378156,CCDS44052.1,NPHP4,0.55,,,,,7.08776,38,O75161_Q779X,Q,X,779,QX,Q779X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000402163,0,0.0137146,0.98231
20,O75381,Q,X,121,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.08,,,,,,,,,149454,5911,ENSG00000142655,ENST00000538836,,PEX14,0.39,,,,,5.45618,35,O75381_Q121X,Q,X,121,QX,Q121X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
51,Q9Y5Z9,N,S,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,11875,2626,ENSG00000120942,ENST00000376810,CCDS129.1,UBIAD1,0.69,probably_damaging,0.997,deleterious,0,4.81836,27.3,Q9Y5Z9_N232S,N,S,232,NS,N232S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.162,-2.713,1.551,,,,,,,,,0.001171,0,0.0399337,0.849514
63,O95140,Q,R,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,21099,12098,ENSG00000116688,ENST00000235329,CCDS30587.1,MFN2,0.36,possibly_damaging,0.845,deleterious,0,4.9243,28.5,O95140_Q276R,Q,R,276,QR,Q276R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.489,-2.993,1.504,,,,,,,,,,,,0.866101
68,P51800,W,C,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,2721,1824,ENSG00000186510,ENST00000420078,CCDS41269.1,CLCNKA,0.12,probably_damaging,0.96,deleterious,0,2.99125,15.98,P51800_W80C,W,C,80,WC,W80C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.282,-4.673,3.391,,,,,,0.677,,44.83,0.00112977,0,0.0385273,0.773794
77,P29317,T,I,940,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,26648,5103,ENSG00000142627,ENST00000358432,CCDS169.1,EPHA2,0.96,benign,0.36,deleterious,0,3.34146,17.25,P29317_T940I,T,I,940,TI,T940I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.728,-3.713,1.985,,,,,,2.794,,92.83,0.00117892,0,0.0402037,0.895695
78,P29317,R,Q,721,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,0.001,0,0.001,0.001,,,,0.001,1336,787,ENSG00000142627,ENST00000358432,CCDS169.1,EPHA2,0.74,probably_damaging,0.94,tolerated,0.12,4.6417,25.5,P29317_R721Q,R,Q,721,RQ,R721Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.565,-3.472,1.907,0.35,H,A,0.56,-0.89,1.781,,57.58,0.000259181,0,0.0088386,0.801719
106,P05186,A,T,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,10021,109,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.23,possibly_damaging,0.899,deleterious,0.01,4.91845,28.4,P05186_A102T,A,T,102,AT,A102T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00321693,0.00236967,0.109704,0.968401
116,P56705,E,G,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,22508,431,ENSG00000162552,ENST00000290167,CCDS223.1,WNT4,0.62,probably_damaging,0.996,deleterious,0,3.93168,20.1,P56705_E216G,E,G,216,EG,E216G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.568,-2.93,1.362,,,,,,3.111,,46.44,0.00320162,0,0.109182,0.921457
118,P56705,R,W,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,170,2208,ENSG00000162552,ENST00000441048,,WNT4,0.54,probably_damaging,0.959,deleterious,0,4.48824,24.1,P56705_R28W,R,W,28,RW,R28W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00285019,0.00309597,0.0971975,0.960989
185,Q8N6F1,L,P,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.12,,,,,,,,,1601,3545,ENSG00000164007,ENST00000296387,CCDS471.1,CLDN19,0.4,probably_damaging,0.997,deleterious,0,3.88128,19.73,Q8N6F1_L90P,L,P,90,LP,L90P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.318,-3.835,2.517,,,,,,1.028,,62.95,0.00602792,0,0.205564,0.814263
196,P11166,R,W,333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,2117,140,ENSG00000117394,ENST00000426263,CCDS477.1,SLC2A1,0.68,probably_damaging,0.997,deleterious,0,4.79397,27,P11166_R333W,R,W,333,RW,R333W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.00134783,0,0.0459637,0.723988
204,P11166,E,K,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.12,,,,,,,,,420,387,ENSG00000117394,ENST00000439722,,SLC2A1,0.2,probably_damaging,0.987,deleterious,0,5.40419,34,P11166_E51K,E,K,51,EK,E51K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00215073,0,0.0733442,0.972716
216,P40238,R,C,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,2193,9496,ENSG00000117400,ENST00000413998,,MPL,0.47,probably_damaging,0.997,deleterious,0,4.30951,22.6,P40238_R257C,R,C,257,RC,R257C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.000826004,0,0.0281684,0.776436
219,P40238,S,N,505,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,11459,230,ENSG00000117400,ENST00000413998,,MPL,0.92,possibly_damaging,0.684,deleterious,0.03,3.27286,16.99,P40238_S505N,S,N,505,SN,S505N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.744,-2.249,0.505,,,,,,16.509,16.509,52.13,0.00250525,0,0.0854342,1.00909
270,P09758,Q,X,207,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.21,,,,,,,,,957,1111,ENSG00000184292,ENST00000371225,CCDS609.1,TACSTD2,0.64,,,,,7.57602,39,P09758_Q207X,Q,X,207,QX,Q207X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00546078,0.00862069,0.186224,0.937083
417,P02545,A,P,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.21,,,,,,,,,365,40,ENSG00000160789,ENST00000347559,,LMNA,0.09,probably_damaging,0.921,deleterious,0.03,5.45292,35,P02545_A57P,A,P,57,AP,A57P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.962,-4.117,2.155,,,,,,1.743,,65.66,0.00184764,0,0.0630083,0.875543
446,P04629,,,,Transcript,INTRONIC,2,intron,pathogenic,0.63,0.11,,,,,,,,,554,291,ENSG00000198400,ENST00000392302,CCDS30890.1,NTRK1,,,,,,1.66336,11.52,P04629_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
516,P25189,I,F,72,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,164,1439,ENSG00000158887,ENST00000360451,,MPZ,0.28,benign,0.384,deleterious,0.04,3.67454,18.67,P25189_I72F,I,F,72,IF,I72F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,,,,,,,,,,,,0.003836,0,0.130815,0.980267
696,Q13751,W,X,610,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.11,,,,,,,,,25541,10817,ENSG00000196878,ENST00000356082,CCDS1487.1,LAMB3,0.52,,,,,4.68013,25.8,Q13751_W610X,W,X,610,WX,W610X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000658076,0,0.0224417,0.956807
699,Q13751,Q,X,166,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.09,,,,,,,,,16820,68,ENSG00000196878,ENST00000356082,CCDS1487.1,LAMB3,0.14,,,,,4.67001,25.7,Q13751_Q166X,Q,X,166,QX,Q166X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000139396,0,0.0047537,0.983498
733,Q8NI60,G,S,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,0,0,0,,,,,,1774,1443,ENSG00000163050,ENST00000433743,,ADCK3,0.69,probably_damaging,0.997,deleterious,0,4.37478,23.1,Q8NI60_G223S,G,S,223,GS,G223S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,0.00215446,0,0.0734717,0.8383
734,Q8NI60,E,K,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,1780,1437,ENSG00000163050,ENST00000433743,,ADCK3,0.7,probably_damaging,0.999,deleterious,0,5.0452,29.9,Q8NI60_E225K,E,K,225,EK,E225K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00203732,0,0.0694767,0.971019
752,P68133,D,Y,3,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.23,,,,,,,,,986,1859,ENSG00000143632,ENST00000366683,,ACTA1,0.01,probably_damaging,0.951,,,3.06457,16.23,P68133_D3Y,D,Y,3,DY,D3Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.61,-4.004,2.394,,,,,,0.82,,51.19,0.00103774,0.0026738,0.035389,0.83
830,P07949,R,H,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,0.002,0.01,,,,25266,12249,ENSG00000165731,ENST00000340058,CCDS53525.1,RET,0.11,benign,0.003,tolerated,0.2,0.939278,8.828,P07949_R114H,R,H,114,RH,R114H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.151,-4.318,2.167,0.701,T,L,1.03,-0.62,1.146,,88.69,0.000632394,0,0.0215659,0.789924
884,Q9Y4Z2,R,S,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.25,,,,,,,,,514,1027,ENSG00000122859,ENST00000242462,CCDS31212.1,NEUROG3,0.5,probably_damaging,0.999,deleterious,0,4.18778,21.7,Q9Y4Z2_R107S,R,S,107,RS,R107S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.064,-3.261,2.197,,,,,,,,,0.000546131,0,0.0186242,0.801707
1048,P05093,R,C,362,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,156,910,ENSG00000148795,ENST00000369887,CCDS7541.1,CYP17A1,0.71,probably_damaging,1,deleterious,0,4.67463,25.8,P05093_R362C,R,C,362,RC,R362C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.064,-4.962,3.898,,,,,,,,,0.000493328,0,0.0168235,0.775875
1169,P01308,C,G,43,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,127,993,ENSG00000254647,ENST00000421783,,INS,0.47,probably_damaging,0.984,deleterious,0,3.21811,16.78,P01308_C43G,C,G,43,CG,C43G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.252,-3.484,2.232,,,,,,2.227,,88.18,0.00173675,0,0.0592266,0.864515
1176,P07101,Q,K,381,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,1048,48,ENSG00000180176,ENST00000352909,CCDS7730.1,TH,0.77,probably_damaging,0.99,deleterious,0,3.50439,17.91,P07101_Q381K,Q,K,381,QK,Q381K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,,,,,,,,,,,,0.00220346,0,0.0751426,0.974158
1190,P51787,T,I,312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,122012,264791,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.46,probably_damaging,0.999,deleterious,0,3.90022,19.83,P51787_T312I,T,I,312,TI,T312I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.149,-3.337,2.188,,,,,,,,,0.000488888,0,0.0166721,0.835513
1193,P51787,R,C,583,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,415,70249,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.86,probably_damaging,0.937,deleterious,0.01,2.126,13.07,P51787_R583C,R,C,583,RC,R583C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.657,-4.864,3.207,,,,,,0.456,,52.96,0.00321321,0,0.109577,0.804107
1287,Q09428,R,C,1420,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,122,255,ENSG00000006071,ENST00000389817,CCDS31437.1,ABCC8,0.9,probably_damaging,0.998,deleterious,0,4.50192,24.2,Q09428_R1420C,R,C,1420,RC,R1420C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,,,,0.719785
1289,Q09428,R,Q,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,0,0,0,,,,,,454,120,ENSG00000006071,ENST00000528374,,ABCC8,0.76,benign,0.002,tolerated,0.32,1.39107,10.58,Q09428_R155Q,R,Q,155,RQ,R155Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
1395,P00734,R,C,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,8907,11363,ENSG00000180210,ENST00000530231,,F2,0.73,probably_damaging,1,tolerated,0.08,4.93142,28.6,P00734_R425C,R,C,425,RC,R425C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.101,-4.943,3.842,,E,B,1.66,-0.39,,,,0.00120244,0,0.0410055,0.453877
1396,P00734,R,H,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,8908,11362,ENSG00000180210,ENST00000530231,,F2,0.73,probably_damaging,0.999,deleterious,0.04,5.34349,34,P00734_R425H,R,H,425,RH,R425H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.101,-4.086,2.985,,E,B,1.03,-0.39,,,,0.00120244,0,0.0410055,0.56166
1407,Q14896,N,T,948,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,17599,475,ENSG00000134571,ENST00000545968,CCDS53621.1,MYBPC3,0.74,probably_damaging,1,deleterious,0,3.92596,19.97,Q14896_N948T,N,T,948,NT,N948T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,,,,,,,,,,,,0.000122342,0,0.0041721,0.996569
1495,O95967,E,K,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,153,62,ENSG00000172638,ENST00000307998,CCDS8116.1,EFEMP2,0.13,possibly_damaging,0.876,deleterious,0,5.86433,36,O95967_E57K,E,K,57,EK,E57K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-0.791,-3.206,2.415,,,,,,1.908,,17.16,0.000843661,0,0.0287706,0.84389
1520,P49821,T,M,322,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,506,16,ENSG00000167792,ENST00000532303,,NDUFV1,0.89,probably_damaging,0.923,deleterious,0,3.55529,18.13,P49821_T322M,T,M,322,TM,T322M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00364924,0,0.124447,0.965955
1545,O75197,G,R,610,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,2573,3,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.38,probably_damaging,1,deleterious,0,3.54195,18.07,O75197_G610R,G,R,610,GR,G610R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,,,,,0.000211041,0,0.00719694,0.78896
1546,O75197,F,C,617,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,2595,25,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.38,possibly_damaging,0.877,deleterious,0,4.56831,24.8,O75197_F617C,F,C,617,FC,F617C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.592,-4.6,3.008,,,,,,1.103,,69.54,0.000241395,0,0.00823208,0.821123
1547,O75197,W,X,734,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.13,,,,,,,,,6,3172,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.45,,,,,9.88472,43,O75197_W734X,W,X,734,WX,W734X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000129161,0,0.00440465,0.957995
1557,P50416,G,E,710,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,55266,2625,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.92,probably_damaging,0.998,deleterious,0,4.25155,22.2,P50416_G710E,G,E,710,GE,G710E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.861,-3.442,2.581,,,,,,,,,0.00246738,0,0.0841428,0.7827
1586,Q8NHX9,G,E,552,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,0.289,0.106,0.383,0.24,0.21,0.27,0.05,0.36,32733,309,ENSG00000162341,ENST00000542467,,TPCN2,0.97,benign,0.01,tolerated,1,-2.16204,0.005,Q8NHX9_G552E,G,E,552,GE,G552E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00187277,0,0.0638652,0.957627
1768,Q05516,M,V,617,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,3592,95,ENSG00000109906,ENST00000392996,CCDS8367.1,ZBTB16,0.92,benign,0.165,deleterious,0.02,3.41704,17.55,Q05516_M617V,M,V,617,MV,M617V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.541,-2.631,1.09,,,,,,,,,0.00360631,0,0.122983,0.910033
1915,P04275,V,M,1316,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,2455,57,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.47,probably_damaging,1,deleterious,0.01,4.20269,21.8,P04275_V1316M,V,M,1316,VM,V1316M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.185,-4.141,2.956,0.042,.,B,0.11,-1.13,2.778,,37.01,5.27e-05,0,0.00179821,0.632796
1916,P04275,W,C,1313,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.17,,,,,,,,,2448,50,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.47,probably_damaging,0.974,deleterious,0,2.95819,15.86,P04275_W1313C,W,C,1313,WC,W1313C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-2.861,-5.127,2.266,0.174,S,a,0.01,-0.22,0.738,,13.33,9.09e-05,0,0.00309915,0.668322
1917,P04275,R,C,1308,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,2431,33,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.46,probably_damaging,0.925,deleterious,0,3.99572,20.5,P04275_R1308C,R,C,1308,RC,R1308C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.079,-5.113,3.034,0.376,.,b,1.66,-0.14,0.934,,13.33,0.000106197,0,0.00362154,0.73131
1925,P04275,T,M,791,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,80315,50481,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.28,probably_damaging,1,deleterious,0,4.47826,24,P04275_T791M,T,M,791,TM,T791M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.177,-4.625,3.448,,,,,,0.435,,29.08,7.88e-05,0,0.00268589,0.844167
2022,P02458,G,R,1173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,1403,690,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.79,,,deleterious,0,4.14612,21.4,P02458_G1173R,G,R,1173,GR,G1173R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,0,,,,0.000491306,0,0.0167545,0.668275
2023,P02458,G,S,1170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,1394,699,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.79,,,deleterious,0,4.13117,21.3,P02458_G1170S,G,S,1170,GS,G1170S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,0,,,,0.000513659,0,0.0175168,0.755786
2029,P02458,G,C,909,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.03,,,,,,,,,8953,6112,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.61,,,deleterious,0,3.96991,20.3,P02458_G909C,G,C,909,GC,G909C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.008,-4.769,3.761,,,,,0,,,,1.25e-05,0,0.00042462,0.646273
2040,P02458,G,C,504,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,2119,12946,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.34,probably_damaging,0.993,deleterious,0,3.51055,17.94,P02458_G504C,G,C,504,GC,G504C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.921,-4.823,3.902,,,,,0,,,,4.05e-05,0,0.00137982,0.646273
2041,P02458,G,V,492,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,2084,12981,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.33,probably_damaging,0.995,deleterious,0,4.76318,26.7,P02458_G492V,G,V,492,GV,G492V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,,,,,0,,,,8.53e-05,0,0.00290933,0.656164
2054,O00744,R,W,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,5228,715,ENSG00000169884,ENST00000301061,CCDS8775.1,WNT10B,0.85,probably_damaging,1,deleterious,0,4.70204,26.1,O00744_R332W,R,W,332,RW,R332W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.000905857,0,0.0308916,0.808716
2066,P41181,Q,P,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,246,513,ENSG00000167580,ENST00000550862,,AQP2,0.23,possibly_damaging,0.642,deleterious,0,4.04737,20.8,P41181_Q57P,Q,P,57,QP,Q57P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.257,-3.105,1.848,0.006,H,A,0.12,-0.89,26.288,26.288,53.14,0.00314961,0,0.107408,0.773004
2067,P41181,G,R,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,266,493,ENSG00000167580,ENST00000550862,,AQP2,0.26,probably_damaging,0.995,deleterious,0.02,3.64673,18.54,P41181_G64R,G,R,64,GR,G64R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.864,-3.039,2.175,0.563,.,g,0.91,-0.52,16.885,16.885,49.08,0.00178059,0,0.0607217,0.672288
2072,P41181,G,R,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,1809,323,ENSG00000167580,ENST00000550862,,AQP2,0.72,probably_damaging,1,deleterious,0,3.59991,18.33,P41181_G175R,G,R,175,GR,G175R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.117,-3.104,1.987,,H,A,0.91,-0.81,14.473,14.473,81.92,0.00230124,0,0.078477,0.674678
2120,P35908,E,K,476,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,5382,2225,ENSG00000172867,ENST00000309680,CCDS8835.1,KRT2,0.74,probably_damaging,1,deleterious,0,5.48387,35,P35908_E476K,E,K,476,EK,E476K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.105,-3.023,1.918,,,,,,2.406,,70.27,,,,0.995706
2245,Q03426,N,T,20,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,7183,1538,ENSG00000110921,ENST00000540353,,MVK,0.17,probably_damaging,0.998,deleterious,0,4.66112,25.7,Q03426_N20T,N,T,20,NT,N20T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,,,,,,,,,,,,0.000938869,0,0.0320174,0.924418
2254,P16615,G,E,23,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.15,,,,,,,,,176,14856,ENSG00000174437,ENST00000308664,CCDS9143.1,ATP2A2,0.02,probably_damaging,0.999,deleterious,0,5.08878,31,P16615_G23E,G,E,23,GE,G23E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.306,-2.982,1.676,,B,p,0.75,0.42,9.556,,92.51,0.000525184,0,0.0179099,0.833141
2308,P16219,R,C,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.17,0.001,0.001,0,,,,,,13495,239,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.93,probably_damaging,1,deleterious,0,3.07452,16.27,P16219_R383C,R,C,383,RC,R383C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.013,H,A,1.66,-0.9,,,,0.00331408,0,0.113017,0.477231
2330,Q9Y6H8,R,H,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.15,,,,,,,,,17988,4807,ENSG00000121743,ENST00000241125,CCDS9289.1,GJA3,0.17,probably_damaging,0.967,deleterious,0,5.32491,34,Q9Y6H8_R76H,R,H,76,RH,R76H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.064,-4.105,3.041,,,,,,,,,0.000273309,0,0.00932041,0.824235
2526,P12883,G,R,716,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,9739,13242,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.37,probably_damaging,0.968,deleterious,0.01,4.91344,28.4,P12883_G716R,G,R,716,GR,G716R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.27,-3.614,2.344,,,,,,2.564,,81.09,0.000259469,0,0.00884842,0.863731
2596,P55771,K,X,114,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.16,,,,,,,,,658,89,ENSG00000198807,ENST00000402703,CCDS9662.1,PAX9,0.33,,,,,10.3495,43,P55771_K114X,K,X,114,KX,K114X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00137582,0,0.0469183,0.904853
2664,Q96NR8,Y,C,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,2045,538,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.72,probably_damaging,0.915,deleterious,0.02,3.06619,16.24,Q96NR8_Y226C,Y,C,226,YC,Y226C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.652,-4.834,3.182,,,,,,0.678,,68.99,0.00781272,0.0111111,0.26643,0.751644
2687,P58304,R,Q,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,20149,3118,ENSG00000119614,ENST00000261980,CCDS9827.1,VSX2,0.55,probably_damaging,1,deleterious,0,5.57964,35,P58304_R200Q,R,Q,200,RQ,R200Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.00114399,0,0.0390123,0.821166
2688,P58304,R,P,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,20149,3118,ENSG00000119614,ENST00000261980,CCDS9827.1,VSX2,0.55,probably_damaging,1,deleterious,0,4.88878,28.1,P58304_R200P,R,P,200,RP,R200P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.281,-3.657,2.376,,,,,,,,,0.00114399,0,0.0390123,0.7179
2948,O43586,E,Q,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.12,,,,,,,,,14,90,ENSG00000140368,ENST00000267939,,PSTPIP1,0.63,probably_damaging,0.999,deleterious,0.02,3.66814,18.64,O43586_E249Q,E,Q,249,EQ,E249Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,,,,,,,,,,,,,,,0.958385
2978,P54098,R,W,627,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,36,2006,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.51,probably_damaging,0.953,deleterious,0,3.56893,18.19,P54098_R627W,R,W,627,RW,R627W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.736,-5.6,3.864,,,,,,0.308,,63.84,0.000524683,0,0.0178928,0.843219
3030,P49815,P,L,1572,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,4707,795,ENSG00000103197,ENST00000439673,,TSC2,0.92,probably_damaging,0.999,deleterious,0,4.81715,27.3,P49815_P1572L,P,L,1572,PL,P1572L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
3063,Q92793,Q,X,136,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.03,,,,,,,,,29432,123150,ENSG00000005339,ENST00000262367,CCDS10509.1,CREBBP,0.06,,,,,11.0478,44,Q92793_Q136X,Q,X,136,QX,Q136X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3094,O95255,I,T,1424,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,5067,577,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.95,possibly_damaging,0.769,deleterious,0,4.30552,22.6,O95255_I1424T,I,T,1424,IT,I1424T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.305,-3.642,2.337,,,,,,3.919,,78.51,0.00234979,0,0.0801328,0.86527
3183,O95255,A,D,766,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,44519,28783,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.51,probably_damaging,0.999,deleterious,0,4.64663,25.5,O95255_A766D,A,D,766,AD,A766D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-0.714,-3.804,3.09,0.058,H,A,0.75,-0.86,2.246,,40.12,0.000201323,0,0.00686552,0.5947
3184,O95255,R,Q,765,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,44516,28786,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.51,probably_damaging,0.997,deleterious,0,5.21019,33,O95255_R765Q,R,Q,765,RQ,R765Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.776,-2.92,2.144,0.115,H,A,0.56,-1.04,6.974,6.974,32.6,0.000188836,0,0.0064397,0.668124
3197,O95255,G,W,666,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,40557,1173,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.44,probably_damaging,1,deleterious,0,4.62481,25.3,O95255_G666W,G,W,666,GW,G666W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-0.607,-5.29,4.683,0.862,T,l,0.76,-1,0.414,,77.78,0.000165834,0,0.00565528,0.666844
3201,O95255,Q,R,655,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,40525,1205,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.44,benign,0.002,tolerated,0.4,1.61724,11.36,O95255_Q655R,Q,R,655,QR,Q655R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-2.186,-2.319,0.133,,,,,,27.216,27.216,42.91,0.000536994,0,0.0183126,1.00538
3270,O14983,C,X,550,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.17,,,,,,,,,13178,223,ENSG00000196296,ENST00000536376,,ATP2A1,0.63,,,,,6.98636,38,O14983_C550X,C,X,550,CX,C550X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.000821915,0,0.028029,0.980504
3381,O75444,K,R,297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.15,,,,,,,,,890,4682,ENSG00000178573,ENST00000393350,CCDS42198.1,MAF,0.8,probably_damaging,1,deleterious,0,4.4188,23.5,O75444_K297R,K,R,297,KR,K297R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.166,-2.81,1.644,,,,,,,,,0.00193397,0,0.0659525,0.907279
3566,Q7Z5J4,Q,R,1562,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,752,6482,ENSG00000108557,ENST00000353383,CCDS11188.1,RAI1,0.82,possibly_damaging,0.79,tolerated,0.33,1.17346,9.774,Q7Z5J4_Q1562R,Q,R,1562,QR,Q1562R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-2.081,-2.241,0.16,,,,,,14.567,14.567,54.35,,,,0.949939
3573,Q9UKN7,I,F,2113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,80,721,ENSG00000091536,ENST00000205890,CCDS42271.1,MYO15A,0.6,,,deleterious,0,3.5803,18.24,Q9UKN7_I2113F,I,F,2113,IF,I2113F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.345,-3.578,2.233,,,,,,2.193,,62.07,,,,0.813234
3610,#N/A,S,R,465,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.03,,,,,,,,,43883,13882,ENSG00000108753,ENST00000560016,,HNF1B,0.85,probably_damaging,0.999,deleterious,0,4.06617,20.9,#N/A_S465R,S,R,465,SR,S465R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,,,,0.94527
3684,Q96J92,P,L,561,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,6852,9561,ENSG00000126562,ENST00000246914,CCDS11439.1,WNK4,0.45,possibly_damaging,0.586,deleterious,0.05,4.32551,22.7,Q96J92_P561L,P,L,561,PL,P561L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.142,-3.324,2.182,,,,,,1.887,,31.7,9.15e-05,0,0.00311986,0.852031
3685,Q96J92,E,K,562,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,6854,9559,ENSG00000126562,ENST00000246914,CCDS11439.1,WNK4,0.45,probably_damaging,0.977,deleterious,0,4.55627,24.7,Q96J92_E562K,E,K,562,EK,E562K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.229,-2.97,1.741,,,,,,1.462,,31.7,9.3e-05,0,0.00317003,0.934813
3757,P08514,G,D,418,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,4302,962,ENSG00000005961,ENST00000353281,,ITGA2B,0.42,probably_damaging,1,deleterious,0,4.36238,23,P08514_G418D,G,D,418,GD,G418D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.268,-3.515,2.247,0.023,.,g,0.46,-0.63,0.691,,23.68,0.000321893,0,0.0109772,0.620138
3797,P02452,G,S,1187,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,1660,713,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.81,,,deleterious,0,2.38002,13.92,P02452_G1187S,G,S,1187,GS,G1187S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.164,-2.972,1.808,,,,,0,2.828,,54.1,5.71e-06,0,0.000194571,0.803668
3814,P02452,G,C,926,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,646,880,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.63,,,deleterious,0,3.69065,18.75,P02452_G926C,G,C,926,GC,G926C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.921,-4.823,3.902,,,,,0,,,,1.29e-05,0,0.000438514,0.646273
3847,Q13253,R,G,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.19,,,,,,,,,1023,869,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.72,probably_damaging,1,deleterious,0.01,2.99524,15.99,Q13253_R167G,R,G,167,RG,R167G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.336,-3.279,1.943,0.051,T,A,0.91,-0.23,0.708,,28.02,0.00576928,0,0.196744,0.652399
3857,Q9NXB0,C,W,482,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,302,591,ENSG00000011143,ENST00000537529,CCDS54148.1,MKS1,0.88,probably_damaging,0.992,deleterious,0,3.48422,17.82,Q9NXB0_C482W,C,W,482,CW,C482W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,,,,0.932742
3864,P05164,Y,C,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,0,0,0,0.001,,,,0.001,154,324,ENSG00000005381,ENST00000340482,,MPO,0.22,probably_damaging,0.995,deleterious,0,2.79533,15.31,P05164_Y173C,Y,C,173,YC,Y173C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.372,-4.727,3.355,,,,,,0.692,,43.89,0.000884055,0,0.0301481,0.80631
3885,P35499,M,I,1476,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,31065,3300,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.8,possibly_damaging,0.831,deleterious,0.05,4.4394,23.6,P35499_M1476I,M,I,1476,MI,M1476I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.433,-3.193,1.76,,,,,,15.158,,92.32,7.4e-05,0,0.00252325,0.97792
3902,P35499,S,F,804,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,21053,13312,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.44,probably_damaging,0.975,deleterious,0.03,4.49276,24.1,P35499_S804F,S,F,804,SF,S804F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.081,-4.075,2.994,,,,,,1.217,,89.27,4.85e-05,0,0.00165565,0.84713
3930,Q9GZS0,R,X,120,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.09,,,,,,,,,18268,15104,ENSG00000171595,ENST00000307504,,DNAI2,0.3,,,,,8.08712,40,Q9GZS0_R120X,R,X,120,RX,R120X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3946,P51570,A,V,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,0,0,0,0.01,0.02,,,,2168,5086,ENSG00000108479,ENST00000437911,,GALK1,0.54,benign,0.418,deleterious,0,4.09261,21.1,P51570_A228V,A,V,228,AV,A228V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00433132,0,0.147707,0.959246
3979,P51688,V,L,218,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,505,26,ENSG00000181523,ENST00000570923,,SGSH,0.8,,,,,1.82906,12.07,P51688_V218L,V,L,218,VL,V218L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,,,,,,,,,,,,0.00368625,0,0.125709,0.969187
3985,P63261,P,A,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,286,79,ENSG00000184009,ENST00000575842,CCDS11782.1,ACTG1,0.89,benign,0.001,,,0.565122,7.054,P63261_P332A,P,A,332,PA,P332A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.845,-2.015,0.17,0.346,.,B,0.52,0,23.559,23.559,92,0.00032508,0,0.0110859,0.989601
4167,Q15831,Y,D,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,1259,21378,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.11,probably_damaging,1,deleterious,0,4.77477,26.8,Q15831_Y49D,Y,D,49,YD,Y49D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.486,-3.73,2.244,0.133,B,B,0.96,0.36,1.225,,75.75,0.00115798,0,0.0394894,0.685503
4168,Q15831,E,X,57,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.13,,,,,,,,,1283,21354,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.13,,,,,14.5976,48,Q15831_E57X,E,X,57,EX,E57X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00263506,0,0.0898609,0.953272
4255,P14314,Y,X,420,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.09,,,,,,,,,13463,2052,ENSG00000130175,ENST00000412601,CCDS45977.1,PRKCSH,0.8,,,,,4.18424,21.7,P14314_Y420X,Y,X,420,YX,Y420X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
4311,P52333,R,X,445,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.07,,,,,,,,,2941,161,ENSG00000105639,ENST00000458235,CCDS12366.1,JAK3,0.4,,,,,3.29012,17.05,P52333_R445X,R,X,445,RX,R445X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000843193,0,0.0287546,0.977351
4315,Q92911,C,X,272,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.11,,,,,,,,,5867,17334,ENSG00000105641,ENST00000222248,CCDS12368.1,SLC5A5,0.42,,,,,7.79988,39,Q92911_C272X,C,X,272,CX,C272X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00162147,0,0.0552954,0.903046
4321,O75462,R,H,312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.12,,,,,,,,,10140,3484,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,0.74,probably_damaging,0.999,deleterious,0,5.29354,34,O75462_R312H,R,H,312,RH,R312H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.096,-2.84,1.744,,,,,,6.376,6.376,47.16,0.00198027,0,0.0675313,0.95057
4323,O75462,R,X,277,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.11,,,,,,,,,9933,3691,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,0.66,,,,,7.16685,38,O75462_R277X,R,X,277,RX,R277X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00170658,0,0.0581979,0.911978
4376,P21817,I,M,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,18150,135715,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.08,benign,0.249,,,0.094026,4.507,P21817_I403M,I,M,403,IM,I403M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-1.327,-2.944,1.617,,,,,,2.681,2.681,33.64,,,,0.8488
4413,#N/A,Y,N,472,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,0,0,0,,,,,,1473,420,ENSG00000255730,ENST00000540732,,CTC-435M10.3,0.99,probably_damaging,0.998,deleterious,0,4.04297,20.8,#N/A_Y472N,Y,N,472,YN,Y472N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,,,,,,,,,,,,,,,0.900009
4421,P02649,T,A,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,1534,896,ENSG00000130203,ENST00000446996,,APOE,0.28,benign,0.002,tolerated,0.18,1.56568,11.19,P02649_T60A,T,A,60,TA,T60A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.619,-2.359,0.74,0.022,.,b,0.22,-0.32,27.139,27.139,93.69,0.00382984,0,0.130605,0.889622
4446,P07992,F,L,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,8693,1435,ENSG00000012061,ENST00000300853,CCDS12662.1,ERCC1,0.78,benign,0.067,tolerated,0.3,2.23321,13.42,P07992_F231L,F,L,231,FL,F231L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.53,-2.839,1.309,,,,,,3.088,,45.12,0.00811242,0,0.27665,0.821535
4477,#N/A,R,Q,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,2487,241,ENSG00000167744,ENST00000301411,CCDS12754.1,NTF4,0.98,possibly_damaging,0.862,deleterious,0,4.03696,20.7,#N/A_R206Q,R,Q,206,RQ,R206Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
4492,Q9Y5K2,W,X,153,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.13,0.001,0.002,0,0.001,,,0.004,,733,1662,ENSG00000167749,ENST00000324041,CCDS12809.1,KLK4,0.6,,,,,3.18839,16.67,Q9Y5K2_W153X,W,X,153,WX,W153X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
4497,P05129,H,Y,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,5994,278,ENSG00000126583,ENST00000419486,,PRKCG,0.66,probably_damaging,0.986,deleterious,0,4.86028,27.8,P05129_H124Y,H,Y,124,HY,H124Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,,,,,,,,,,,,,,,0.953139
4499,P05129,G,D,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,6046,226,ENSG00000126583,ENST00000419486,,PRKCG,0.76,probably_damaging,0.985,deleterious,0,5.05763,30,P05129_G141D,G,D,141,GD,G141D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,,,,0.948182
4501,P05129,Q,R,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,6073,199,ENSG00000126583,ENST00000419486,,PRKCG,0.8,probably_damaging,0.98,deleterious,0,4.35552,22.9,P05129_Q150R,Q,R,150,QR,Q150R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,,,,0.956783
4502,P05129,G,D,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,6076,196,ENSG00000126583,ENST00000419486,,PRKCG,0.81,possibly_damaging,0.847,deleterious,0.02,4.86263,27.8,P05129_G151D,G,D,151,GD,G151D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.164,-1.909,0.745,,,,,,32.956,32.956,83.07,,,,0.96486
4722,O75923,R,H,1063,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,566,213,ENSG00000135636,ENST00000409582,CCDS46324.1,DYSF,0.5,probably_damaging,1,deleterious,0.01,4.96869,29,O75923_R1063H,R,H,1063,RH,R1063H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000368368,0,0.0125621,1.0021
4738,Q13724,F,L,652,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.03,,,,,,,,,1803,162,ENSG00000115275,ENST00000233616,CCDS42700.1,MOGS,0.78,probably_damaging,0.935,deleterious,0.01,3.60566,18.35,Q13724_F652L,F,L,652,FL,F652L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.423,-2.852,1.429,,,,,,3.124,,45.64,0.00208818,0,0.0712111,0.942222
4739,Q13724,R,T,380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,1306,336,ENSG00000115275,ENST00000448666,,MOGS,0.77,probably_damaging,0.999,deleterious,0,3.87869,19.71,Q13724_R380T,R,T,380,RT,R380T,PositiveCharge,Polar,6.34,5.6,-0.74,174,119,-55,173.4,116.1,-57.3,71,,,,,,,,,,,,0.00187675,0,0.064001,0.963633
4766,P43403,,,,Transcript,INTRONIC,2,intron,pathogenic,0.63,0.03,,,,,,,,,535,40,ENSG00000115085,ENST00000442208,,ZAP70,,,,,,0.766744,8.055,P43403_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4794,Q06710,L,R,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.12,,,,,,,,,10491,5209,ENSG00000125618,ENST00000263334,CCDS46399.1,PAX8,0.16,probably_damaging,0.998,deleterious,0,4.61458,25.2,Q06710_L62R,L,R,62,LR,L62R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-0.849,-3.872,3.023,0.577,H,A,1.75,0.28,,,,0.000437847,0,0.0149315,0.773345
4795,Q06710,C,Y,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.15,,,,,,,,,10506,5224,ENSG00000125618,ENST00000263334,CCDS46399.1,PAX8,0.14,probably_damaging,0.998,deleterious,0,4.77822,26.9,Q06710_C57Y,C,Y,57,CY,C57Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-0.96,-4.101,3.141,0.524,H,A,0.25,0.25,,,,0.000658127,0,0.0224435,0.764801
4801,P10070,R,G,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.15,,,,,,,,,181204,7936,ENSG00000074047,ENST00000452319,CCDS33283.1,GLI2,0.3,probably_damaging,0.971,deleterious,0,3.86625,19.64,P10070_R479G,R,G,479,RG,R479G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.184,-3.175,1.991,0.333,T,a,0.91,-0.03,,,,0.000165651,0,0.00564905,0.782521
4825,P04070,V,M,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,5286,372,ENSG00000115718,ENST00000402125,,PROC,0.48,probably_damaging,0.991,deleterious,0,2.73245,15.1,P04070_V114M,V,M,114,VM,V114M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00269354,0,0.0918551,0.978315
4826,P04070,G,S,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.15,,,,,,,,,5298,360,ENSG00000115718,ENST00000402125,,PROC,0.5,probably_damaging,1,deleterious,0,4.50085,24.2,P04070_G118S,G,S,118,GS,G118S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00195636,0,0.0667158,0.9735
4922,P35453,G,V,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,682,2366,ENSG00000128714,ENST00000392539,CCDS2264.2,HOXD13,0.66,probably_damaging,0.995,deleterious,0,4.26319,22.2,P35453_G228V,G,V,228,GV,G228V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.554,-3.383,1.829,,,,,,3.024,,44.61,0.0042276,0,0.14417,0.899936
5030,Q9Y276,T,A,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,71,83,ENSG00000074582,ENST00000423377,,BCS1L,0.45,probably_damaging,0.954,tolerated,0.06,4.44223,23.7,Q9Y276_T50A,T,A,50,TA,T50A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.245,-2.588,1.343,,,,,,,,,0.00353163,0,0.120436,0.899095
5039,Q02318,G,E,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,3841,3271,ENSG00000135929,ENST00000411688,,CYP27A1,0.23,probably_damaging,0.999,deleterious,0,4.21375,21.9,Q02318_G51E,G,E,51,GE,G51E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00118301,0,0.0403431,0.908539
5044,Q02318,R,W,474,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,32527,588,ENSG00000135929,ENST00000258415,CCDS2423.1,CYP27A1,0.89,probably_damaging,1,deleterious,0,4.33016,22.7,Q02318_R474W,R,W,474,RW,R474W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.064,-5.197,4.133,,,,,,,,,0.00175113,0,0.0597173,0.741152
5045,Q02318,R,Q,474,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,32528,587,ENSG00000135929,ENST00000258415,CCDS2423.1,CYP27A1,0.89,probably_damaging,1,deleterious,0,5.69344,36,Q02318_R474Q,R,Q,474,RQ,R474Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.064,-3.324,2.26,,,,,,,,,0.00175113,0,0.0597173,0.780488
5050,Q9GZT5,E,X,233,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.11,,,,,,,,,6454,205,ENSG00000135925,ENST00000258411,CCDS2426.1,WNT10A,0.56,,,,,9.40371,42,Q9GZT5_E233X,E,X,233,EX,E233X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00175905,0,0.0599871,0.941119
5053,Q14623,T,I,154,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,2919,3125,ENSG00000163501,ENST00000295731,CCDS33380.1,IHH,0.37,probably_damaging,1,deleterious,0,5.41003,34,Q14623_T154I,T,I,154,TI,T154I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.067,-3.377,2.31,0.014,E,b,0.7,-0.77,,,,0.00221034,0,0.0753772,0.585181
5057,Q14623,E,G,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.21,,,,,,,,,284,5760,ENSG00000163501,ENST00000295731,CCDS33380.1,IHH,0.23,probably_damaging,0.999,deleterious,0,3.85224,19.57,Q14623_E95G,E,G,95,EG,E95G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.336,-1.833,0.497,0.219,T,A,0.75,0.64,30.641,30.641,60.1,0.00153043,0,0.0521907,0.861776
5076,P23760,G,A,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,992,3520,ENSG00000135903,ENST00000336840,CCDS2449.1,PAX3,0.12,probably_damaging,0.995,deleterious,0,5.18121,32,P23760_G48A,G,A,48,GA,G48A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-1.008,-2.534,1.526,0.77,T,g,0.29,-1.07,,,,0.000893513,0,0.0304706,0.765924
5077,P23760,N,K,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,990,3522,ENSG00000135903,ENST00000336840,CCDS2449.1,PAX3,0.12,possibly_damaging,0.594,deleterious,0,3.93539,20.1,P23760_N47K,N,K,47,NK,N47K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.41,-2.914,1.504,0.731,T,B,1.73,-0.73,,,,0.000624528,0,0.0212977,0.842543
5078,P23760,N,H,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,988,3524,ENSG00000135903,ENST00000336840,CCDS2449.1,PAX3,0.12,possibly_damaging,0.86,deleterious,0,5.02577,29.7,P23760_N47H,N,H,47,NH,N47H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,-1.41,-3.687,2.277,0.731,T,B,0.44,-0.73,,,,0.000624528,0,0.0212977,0.741983
5109,Q07001,P,Q,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,3940,1497,ENSG00000135902,ENST00000258385,CCDS2494.1,CHRND,0.52,probably_damaging,1,deleterious,0,3.74765,19.03,Q07001_P271Q,P,Q,271,PQ,P271Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.147,-3.64,2.493,0.338,H,A,0.12,0,3.326,,69.05,0.000222037,0,0.0075719,0.813166
5111,Q07001,R,X,270,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.05,0,0,0,,,,,,8957,198,ENSG00000135902,ENST00000457943,,CHRND,0.84,,,,,6.6104,37,Q07001_R270X,R,X,270,RX,R270X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000202525,0,0.00690652,0.977351
5113,P07510,R,X,470,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.08,,,,,,,,,5822,147,ENSG00000196811,ENST00000389494,CCDS33400.1,CHRNG,0.91,,,,,5.39393,34,P07510_R470X,R,X,470,RX,R470X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00556347,0,0.189726,0.933136
5413,O43526,R,X,581,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.12,,,,,,,,,59167,493,ENSG00000075043,ENST00000359689,,KCNQ2,0.67,,,,,7.40055,39,O43526_R581X,R,X,581,RX,R581X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000354145,0,0.0120771,0.977351
5421,O43526,T,K,359,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.17,,,,,,,,,880,172,ENSG00000075043,ENST00000359689,,KCNQ2,0.41,probably_damaging,0.999,deleterious,0,5.63863,36,O43526_T359K,T,K,359,TK,T359K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-0.895,-3.53,2.635,,,,,,3.749,,83.14,0.000636408,0,0.0217028,0.873191
5424,O43526,R,Q,333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,33989,4971,ENSG00000075043,ENST00000359689,,KCNQ2,0.38,possibly_damaging,0.902,deleterious,0,5.11587,32,O43526_R333Q,R,Q,333,RQ,R333Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.072,-3.634,2.562,,,,,,3.829,,70.18,0.000320141,0,0.0109175,0.940364
5425,O43526,R,W,333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,33988,4972,ENSG00000075043,ENST00000359689,,KCNQ2,0.38,probably_damaging,0.991,deleterious,0,3.64514,18.54,O43526_R333W,R,W,333,RW,R333W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.072,-5.45,4.378,,,,,,0.336,,70.18,0.000320141,0,0.0109175,0.895035
5427,O43526,A,G,294,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,32995,5965,ENSG00000075043,ENST00000359689,,KCNQ2,0.34,benign,0.219,deleterious,0.04,1.73535,11.76,O43526_A294G,A,G,294,AG,A294G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.361,-2.244,0.883,,,,,,39.116,39.116,76.72,0.000943085,0,0.0321611,0.984217
5441,O43526,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.63,0.08,,,,,,,,,25893,13067,ENSG00000075043,ENST00000359689,,KCNQ2,,,,,,3.03247,16.12,O43526_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5468,P00441,C,F,7,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.17,,,,,,,,,80,6196,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.05,probably_damaging,0.999,deleterious,0,4.49437,24.1,P00441_C7F,C,F,7,CF,C7F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.293,-3.844,2.551,0.01,E,B,0.12,-1.06,,,,0.00826527,0,0.281863,0.557544
5539,O43918,K,E,83,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,791,11069,ENSG00000160224,ENST00000291582,CCDS13706.1,AIRE,0.15,probably_damaging,0.999,deleterious,0.01,4.57186,24.8,O43918_K83E,K,E,83,KE,K83E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.083,-2.807,1.724,,,,,,,,,0.000446312,0,0.0152202,0.913498
5546,P05107,G,R,273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.2,,,,,,,,,10231,1333,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.36,probably_damaging,0.995,deleterious,0,3.96379,20.3,P05107_G273R,G,R,273,GR,G273R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,G,A,0.91,-1.21,,,,0.000430968,0,0.0146969,0.56038
5553,P12109,K,R,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,2666,20648,ENSG00000142156,ENST00000361866,CCDS13727.1,COL6A1,0.12,possibly_damaging,0.855,tolerated,0.39,2.03908,12.78,P12109_K121R,K,R,121,KR,K121R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-2.015,-3.464,1.449,,,,,,4.906,,67.61,0.00014321,0,0.00488376,0.973238
5612,P35625,S,C,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,1083,669,ENSG00000100234,ENST00000266085,CCDS13911.1,TIMP3,0.97,benign,0.046,deleterious,0,2.35325,13.83,P35625_S204C,S,C,204,SC,S204C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.795,-4.598,2.803,,,,,,1.716,,93.84,,,,0.817541
5614,P35579,D,Y,1424,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,95958,10779,ENSG00000100345,ENST00000216181,CCDS13927.1,MYH9,0.73,probably_damaging,1,deleterious,0,4.10124,21.1,P35579_D1424Y,D,Y,1424,DY,D1424Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.153,-4.171,3.018,,,,,,1.687,,74.9,7e-05,0,0.00238593,0.84318
5615,P35579,D,H,1424,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,95958,10779,ENSG00000100345,ENST00000216181,CCDS13927.1,MYH9,0.73,probably_damaging,1,deleterious,0,4.15942,21.5,P35579_D1424H,D,H,1424,DH,D1424H,negativeCharge,PositiveCharge,5.05,7.59,2.54,133,155,22,111.1,153.2,42.1,81,-1.153,-4.425,3.272,,,,,,2.293,,74.9,7e-05,0,0.00238593,0.859804
5678,Q9NPC4,M,K,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.17,,,,,,,,,1583,568,ENSG00000128274,ENST00000381278,CCDS14041.1,A4GALT,0.52,benign,0.367,deleterious,0,3.75436,19.06,Q9NPC4_M183K,M,K,183,MK,M183K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.878,-3.527,1.649,,,,,,2.159,,86.69,0.00383793,0,0.130881,0.954942
5697,O43819,R,W,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,1376,102,ENSG00000130489,ENST00000395693,CCDS14095.1,SCO2,0.64,probably_damaging,1,deleterious,0,2.44665,14.14,O43819_R171W,R,W,171,RW,R171W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.225,-5.172,3.947,0.868,T,a,1.67,0.41,0.37,,63.91,0.00187377,0,0.0638995,0.705699
5718,P15289,E,K,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,2517,606,ENSG00000100299,ENST00000547805,,ARSA,0.75,benign,0.008,tolerated,0.88,0.317542,5.721,P15289_E382K,E,K,382,EK,E382K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.754,-2.115,0.361,0.711,T,A,1.3,1.03,20.494,20.494,73.96,0.00379798,0.008,0.129519,0.94626
5728,P15289,T,M,274,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,0,0,0,,,,,,1538,27,ENSG00000100299,ENST00000547805,,ARSA,0.54,probably_damaging,1,deleterious,0,3.95167,20.2,P15289_T274M,T,M,274,TM,T274M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.342,-2.619,1.277,0.014,E,B,0.77,1.02,8.242,8.242,51.08,0.000469988,0,0.0160275,0.816515
5733,P15289,P,T,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,1408,157,ENSG00000100299,ENST00000547805,,ARSA,0.46,probably_damaging,0.999,deleterious,0,4.49395,24.1,P15289_P231T,P,T,231,PT,P231T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-0.966,-3.239,2.273,0.008,S,B,0.3,-0.07,,,,0.001232,0,0.0420139,0.713749
5784,Q8NCE2,Y,C,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.04,,,,,,,,,20291,13183,ENSG00000163719,ENST00000420925,,MTMR14,0.74,benign,0.007,tolerated,0.2,0.946652,8.86,Q8NCE2_Y216C,Y,C,216,YC,Y216C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
5854,P37173,Y,N,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.12,,,,,,,,,65588,21946,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.59,probably_damaging,0.961,deleterious,0,3.79405,19.26,P37173_Y336N,Y,N,336,YN,Y336N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,-1.479,-3.88,2.401,,,,,,0.784,,49.56,,,,0.735842
5855,P37173,A,P,355,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,65645,21889,ENSG00000163513,ENST00000295754,CCDS2648.1,TGFBR2,0.63,probably_damaging,0.987,deleterious,0,3.96861,20.3,P37173_A355P,A,P,355,AP,A355P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.285,-3.52,2.235,,,,,,2.259,,77.6,,,,0.847622
5947,P08590,R,H,154,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,3948,1623,ENSG00000160808,ENST00000395869,CCDS2746.1,MYL3,0.79,probably_damaging,0.999,deleterious,0.01,4.63087,25.4,P08590_R154H,R,H,154,RH,R154H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,0.397,H,A,1.03,-0.14,,,,0.0035633,0,0.121516,0.72921
5948,P08590,M,V,149,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,3932,1639,ENSG00000160808,ENST00000395869,CCDS2746.1,MYL3,0.76,probably_damaging,0.97,deleterious,0.02,4.00043,20.5,P08590_M149V,M,V,149,MV,M149V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.71,-2.589,0.879,0.682,E,b,0.11,1.37,,,,0.00402852,0,0.137381,0.899163
5958,Q9NSU2,R,H,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,0.001,0.001,0.001,,,,,,726,438,ENSG00000213689,ENST00000444177,,TREX1,0.34,probably_damaging,1,deleterious,0,4.85532,27.7,Q9NSU2_R104H,R,H,104,RH,R104H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00419708,0.00377358,0.143129,0.975921
5961,Q9NSU2,D,N,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,983,181,ENSG00000213689,ENST00000444177,,TREX1,0.62,probably_damaging,0.972,deleterious,0.01,3.87969,19.72,Q9NSU2_D190N,D,N,190,DN,D190N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00381672,0,0.130158,0.976296
5962,Q9NSU2,D,Y,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,983,181,ENSG00000213689,ENST00000444177,,TREX1,0.62,probably_damaging,0.996,deleterious,0,3.21065,16.75,Q9NSU2_D190Y,D,Y,190,DY,D190Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.00381672,0,0.130158,0.940136
5963,Q9NSU2,V,D,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,987,177,ENSG00000213689,ENST00000444177,,TREX1,0.63,probably_damaging,0.934,deleterious,0,3.33006,17.2,Q9NSU2_V191D,V,D,191,VD,V191D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,,,,,,,,,,,,0.00407597,0,0.138999,0.956771
5992,P48728,R,H,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,1325,4,ENSG00000145020,ENST00000427987,,AMT,0.83,probably_damaging,0.999,deleterious,0,5.20392,33,P48728_R318H,R,H,318,RH,R318H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.532,-2.42,0.888,0.338,.,B,1.03,0.72,23.368,23.368,87.84,0.00455837,0,0.15545,0.933983
6188,P08100,Q,X,344,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.11,,,,,,,,,5061,1469,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.99,,,,,6.05006,37,P08100_Q344X,Q,X,344,QX,Q344X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.123952,1,4.22703,0.93981
6189,P08100,V,M,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,5064,1466,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.99,possibly_damaging,0.884,deleterious,0,5.2779,33,P08100_V345M,V,M,345,VM,V345M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.304,-3.765,2.461,0.808,.,b,0.11,2.55,,,,0.130286,1,4.44303,0.756469
6190,P08100,V,L,345,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,5064,1466,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.99,benign,0.205,deleterious,0,4.41256,23.4,P08100_V345L,V,L,345,VL,V345L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.304,-2.419,1.115,0.808,.,b,0.11,2.55,,,,0.130286,1,4.44303,0.925612
6477,Q9NRM0,P,R,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,20,7417,ENSG00000109667,ENST00000506583,CCDS3406.1,SLC2A9,0.75,benign,0.295,tolerated,0.24,1.69696,11.63,Q9NRM0_P383R,P,R,383,PR,P383R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,,,,0.946563
6696,Q695T7,R,X,240,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.16,,,,,,,,,11922,9754,ENSG00000174358,ENST00000304460,CCDS34130.1,SLC6A19,0.38,,,,,6.39454,37,Q695T7_R240X,R,X,240,RX,R240X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00100328,0,0.0342138,0.908362
6706,O14746,R,C,811,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.12,,,,,,,,,11855,4706,ENSG00000164362,ENST00000310581,CCDS3861.2,TERT,0.72,probably_damaging,0.937,deleterious,0,1.59329,11.28,O14746_R811C,R,C,811,RC,R811C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.854,-4.917,3.063,,,,,,0.988,,79.24,0.0011162,0,0.0380646,0.818073
6730,Q9UMX9,A,V,427,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,39892,165,ENSG00000164175,ENST00000342059,,SLC45A2,0.91,probably_damaging,0.997,deleterious,0,5.26072,33,Q9UMX9_A427V,A,V,427,AV,A427V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.0016159,0,0.0551053,0.914935
6986,Q0D2K0,R,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.09,,,,,,,,,2974,4666,ENSG00000172548,ENST00000311946,CCDS47328.1,NIPAL4,0.31,,,,,3.88858,19.77,Q0D2K0_R145X,R,X,145,RX,R145X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00284064,0,0.0968717,0.951177
6998,P52952,Q,X,170,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.19,,,,,,,,,2171,141,ENSG00000183072,ENST00000329198,CCDS4387.1,NKX2-5,0.52,,,,,6.859,38,P52952_Q170X,Q,X,170,QX,Q170X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00139354,0,0.0475225,0.904853
7044,P35916,R,P,1041,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,2674,2378,ENSG00000037280,ENST00000261937,CCDS4457.1,FLT4,0.76,probably_damaging,1,deleterious,0,4.58211,24.9,P35916_R1041P,R,P,1041,RP,R1041P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.184,-3.697,2.513,,,,,,,,,0.000486536,0,0.0165919,0.793638
7045,P35916,H,R,1035,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,2656,2396,ENSG00000037280,ENST00000261937,CCDS4457.1,FLT4,0.76,probably_damaging,1,deleterious,0,4.1812,21.7,P35916_H1035R,H,R,1035,HR,H1035R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.21,-3.3,2.09,,,,,,,,,0.000478074,0,0.0163033,0.869336
7127,Q9HB96,Q,X,119,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.08,,,,,,,,,3492,11251,ENSG00000112039,ENST00000229769,CCDS4805.1,FANCE,0.22,,,,,6.09802,37,Q9HB96_Q119X,Q,X,119,QX,Q119X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7139,Q9NZC2,V,G,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.03,,,,,,,,,1900,2768,ENSG00000095970,ENST00000373122,,TREM2,0.58,probably_damaging,0.998,deleterious,0,3.96322,20.3,Q9NZC2_V126G,V,G,126,VG,V126G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.039,-3.439,2.4,,,,,,,,,0.00305873,0,0.104309,0.758179
7408,P15259,W,X,78,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.12,0.003,0.009,0,0.002,,,0.01,,291,783,ENSG00000164708,ENST00000297283,CCDS34624.1,PGAM2,0.31,,,,,5.97208,36,P15259_W78X,W,X,78,WX,W78X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00564975,0,0.192668,0.906133
7534,Q9UP52,R,X,396,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.08,,,,,,,,,1088,13,ENSG00000106327,ENST00000462107,CCDS34707.1,TFR2,0.49,,,,,2.8045,15.34,Q9UP52_R396X,R,X,396,RX,R396X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00149851,0,0.0511022,0.900587
7719,O60393,R,W,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.03,0.019,0.059,0.001,0.02,,0.003,0.08,,127,2133,ENSG00000106410,ENST00000223140,,NOBOX,0.06,benign,0.391,deleterious,0,2.19324,13.29,O60393_R32W,R,W,32,RW,R32W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000455263,0,0.0155254,0.987856
7727,Q12809,R,Q,752,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,0,0,0,,,,,,5500,877,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.65,probably_damaging,0.982,deleterious,0,5.35223,34,Q12809_R752Q,R,Q,752,RQ,R752Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.000321423,0,0.0109612,0.890623
7729,Q12809,R,C,582,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,4162,2215,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.5,probably_damaging,0.952,deleterious,0,2.25636,13.5,Q12809_R582C,R,C,582,RC,R582C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.879,-4.777,2.898,,,,,,1.087,,59.62,0.000737355,0,0.0251453,0.809932
7752,Q15465,K,X,18,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.15,,,,,,,,,826,38,ENSG00000164690,ENST00000430104,,SHH,0.11,,,,,5.79589,36,Q15465_K18X,K,X,18,KX,K18X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.000256942,0,0.00876227,0.98231
7810,O43593,V,D,1136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.03,,,,,,,,,2046,1331,ENSG00000168453,ENST00000381418,CCDS6022.1,HR,0.96,probably_damaging,0.968,deleterious,0,4.33899,22.8,O43593_V1136D,V,D,1136,VD,V1136D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.201,-3.696,2.495,,,,,,,,,0.00518267,0,0.17674,0.761502
7812,O43593,D,N,1012,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,642,495,ENSG00000168453,ENST00000381418,CCDS6022.1,HR,0.85,possibly_damaging,0.48,deleterious,0,3.79956,19.29,O43593_D1012N,D,N,1012,DN,D1012N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.057,-3,1.943,,,,,,,,,0.000537536,0,0.0183311,0.903469
7980,P01106,S,T,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.16,,,,,,,,,2148,97,ENSG00000136997,ENST00000520751,,MYC,0.47,,,,,1.90328,12.32,P01106_S28T,S,T,28,ST,S28T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,,,,,,,,,,,,0.00134326,0,0.045808,0.91619
8007,P55000,M,L,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.63,0.07,,,,,,,,,27,1441,ENSG00000126233,ENST00000246515,CCDS6387.1,SLURP1,0.01,benign,0.163,deleterious,0,1.64928,11.47,P55000_M1L,M,L,1,ML,M1L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-1.71,-2.194,0.484,,,,,,,,,0.0102478,0.0196078,0.349471,0.933762
8020,P19099,T,I,185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,0,,,,,2757,1420,ENSG00000179142,ENST00000323110,CCDS6393.1,CYP11B2,0.37,probably_damaging,0.997,deleterious,0,3.36724,17.35,P19099_T185I,T,I,185,TI,T185I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-0.966,-3.435,2.469,,,,,,,,,0.00191719,0,0.06538,0.800943
8153,P09467,A,D,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,29550,3143,ENSG00000165140,ENST00000415431,CCDS6712.1,FBP1,0.52,possibly_damaging,0.835,deleterious,0,5.00765,29.5,P09467_A177D,A,D,177,AD,A177D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.505,-3.363,1.858,,E,B,0.75,-0.85,3.87,,78.99,0.00461632,0,0.157426,0.682162
8328,Q9UBR4,K,X,50,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.12,,,,,,,,,2459,4421,ENSG00000107187,ENST00000371746,CCDS6995.1,LHX3,0.12,,,,,4.50759,24.2,Q9UBR4_K50X,K,X,50,KX,K50X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
8337,O15120,Y,X,190,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.07,,,,,,,,,778,425,ENSG00000169692,ENST00000371696,CCDS7003.1,AGPAT2,0.68,,,,,3.36822,17.35,O15120_Y190X,Y,X,190,YX,Y190X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00410199,0,0.139886,0.945391
8454,Q96QS3,L,P,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.15,,,,,,,,,309,11946,ENSG00000004848,ENST00000379044,CCDS14215.1,ARX,0.06,,,deleterious,0,3.5588,18.15,Q96QS3_L33P,L,P,33,LP,L33P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,,,,,,,,,0.000305113,0,0.010405,0.800252
8846,Q00604,C,Y,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,182,232,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.72,probably_damaging,0.962,deleterious,0,4.51474,24.3,Q00604_C96Y,C,Y,96,CY,C96Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,0.0082485,0,0.281291,0.735436
8866,P27918,Y,D,414,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,519,74,ENSG00000126759,ENST00000377005,,CFP,1,probably_damaging,0.966,deleterious,0.01,3.07724,16.27,P27918_Y414D,Y,D,414,YD,Y414D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.502,-3.828,2.326,,,,,0,1.279,,79.74,0.00105884,0,0.0361085,0.717691
8867,P27918,G,V,298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,240,13,ENSG00000126759,ENST00000377005,,CFP,0.72,probably_damaging,1,deleterious,0,3.58737,18.27,P27918_G298V,G,V,298,GV,G298V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.763,-3.609,2.846,,,,,0,,,,0.00106734,0,0.0363984,0.675792
8882,P42768,R,X,13,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.08,,,,,,,,,62,2982,ENSG00000015285,ENST00000450772,,WAS,0.06,,,,,5.37694,34,P42768_R13X,R,X,13,RX,R13X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0002105,0,0.00717849,0.977351
8893,P15976,V,M,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.05,,,,,,,,,95,1972,ENSG00000102145,ENST00000376670,CCDS14305.1,GATA1,0.5,probably_damaging,0.976,deleterious,0,3.721,18.9,P15976_V205M,V,M,205,VM,V205M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.373,-3.979,2.606,,,,,,0.825,,53.03,0.00221326,0,0.0754768,0.861099
9130,Q8TAB3,E,X,48,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.21,,,,,,,,,142,116810,ENSG00000165194,ENST00000420881,CCDS48141.1,PCDH19,0.04,,,,,5.9092,36,Q8TAB3_E48X,E,X,48,EX,E48X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00081633,0.000909091,0.0278385,0.980139
9690,P33897,P,R,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.08,,,,,,,,,1870,1588,ENSG00000101986,ENST00000443684,,ABCD1,0.68,probably_damaging,0.999,deleterious,0,4.06137,20.9,P33897_P152R,P,R,152,PR,P152R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,0.00114518,0,0.039053,0.907922
9692,P33897,R,W,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.07,,,,,,,,,4811,450,ENSG00000101986,ENST00000443684,,ABCD1,0.84,possibly_damaging,0.771,deleterious,0.01,2.94603,15.82,P33897_R186W,R,W,186,RW,R186W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00110274,0,0.0376058,0.918174
9693,P33897,S,L,606,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.11,,,,,,,,,18154,1740,ENSG00000101986,ENST00000218104,CCDS14728.1,ABCD1,0.81,probably_damaging,0.994,deleterious,0,4.89266,28.1,P33897_S606L,S,L,606,SL,S606L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.239,-3.135,1.896,,,,,,,,,0.00177915,0,0.0606728,0.853013
9710,P30518,R,C,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,801,867,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.37,probably_damaging,1,deleterious,0,3.09513,16.34,P30518_R137C,R,C,137,RC,R137C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.000985722,0,0.0336151,0.701416
9711,P30518,R,H,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,802,866,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.37,probably_damaging,1,deleterious,0,3.85611,19.59,P30518_R137H,R,H,137,RH,R137H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.000985722,0,0.0336151,0.74979
9712,P30518,R,L,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.13,,,,,,,,,802,866,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.37,probably_damaging,1,deleterious,0,3.81759,19.39,P30518_R137L,R,L,137,RL,R137L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.184,-3.175,1.991,,,,,,,,,0.000985722,0,0.0336151,0.769151
9719,P30518,R,X,337,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.07,,,,,,,,,1507,161,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.91,,,,,3.13313,16.47,P30518_R337X,R,X,337,RX,R337X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0110811,0,0.377888,0.917368
9730,P04000,C,R,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,1662,1796,ENSG00000102076,ENST00000442922,,OPN1LW,0.4,probably_damaging,1,deleterious,0,3.26659,16.96,P04000_C66R,C,R,66,CR,C66R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.00395391,0,0.134836,0.940732
9734,#N/A,C,R,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.63,0.09,,,,,,,,,1660,1796,ENSG00000147380,ENST00000430054,,OPN1MW,0.4,possibly_damaging,0.754,deleterious,0,2.56167,14.53,#N/A_C66R,C,R,66,CR,C66R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,,,,0.932506
9768,#N/A,Q,X,403,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.63,0.03,,,,,,,,,2010,425,ENSG00000073009,ENST00000369606,CCDS14757.1,IKBKG,0.96,,,,,8.24531,40,#N/A_Q403X,Q,X,403,QX,Q403X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6,Q9UP52,H,N,33,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.08,,,,,,,,,350,1362,ENSG00000106327,ENST00000462107,CCDS34707.1,TFR2,0.04,benign,0,tolerated,0.25,0.082779,4.447,Q9UP52_H33N,H,N,33,HN,H33N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,-2.308,-2.619,0.311,,,,,,25.86,25.86,87.89,0.000221228,0,0.00874909,1.01814
16,Q9P202,V,A,783,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.11,0.411,0.237,0.5,0.42,0.49,0.51,0.2,0.47,22106,1885,ENSG00000095397,ENST00000362057,CCDS6806.1,DFNB31,0.86,benign,0,tolerated,1,-1.1486,0.104,Q9P202_V783A,V,A,783,VA,V783A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-2.198,-2.248,0.05,,,,,,26.794,26.794,64.17,0.00144229,0,0.0570397,1.00981
49,Q9H251,R,Q,1440,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.09,0.035,0.049,0.029,0.06,0.11,0.04,0.07,0.03,774,3439,ENSG00000107736,ENST00000224721,,CDH23,0.43,benign,0.009,tolerated,0.36,2.09414,12.96,Q9H251_R1440Q,R,Q,1440,RQ,R1440Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
74,Q96RK4,A,V,4,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.21,,,,,,,,,10,10464,ENSG00000140463,ENST00000569338,,BBS4,0.01,benign,0.007,tolerated,0.56,0.430148,6.336,Q96RK4_A4V,A,V,4,AV,A4V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00108493,0,0.0429065,0.923448
79,Q96RK4,V,A,3,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.21,,,,,,,,,7,10461,ENSG00000140463,ENST00000569338,,BBS4,0.01,benign,0,tolerated,0.09,1.90189,12.32,Q96RK4_V3A,V,A,3,VA,V3A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,,,,,,,,,,,,0.00105064,0,0.0415505,0.921116
143,Q15049,C,F,171,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.09,0.102,0.071,0.118,0.1,0.1,0.14,0.07,0.11,7846,6875,ENSG00000100427,ENST00000311597,CCDS14083.1,MLC1,0.45,benign,0.166,deleterious,0.04,2.17512,13.23,Q15049_C171F,C,F,171,CF,C171F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.573,-2.88,1.307,,,,,,28.73,28.73,83.82,0.00376119,0,0.148747,0.952359
156,Q10981,I,F,140,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.12,0.001,0.002,0,0.1,0.38,0.003,,,7399,243,ENSG00000176920,ENST00000425340,CCDS33069.1,FUT2,0.41,possibly_damaging,0.89,deleterious,0,2.87753,15.59,Q10981_I140F,I,F,140,IF,I140F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.55,-2.512,0.962,,,,,,13.261,13.261,80.76,0.00384657,0,0.152123,0.98671
203,P35579,I,V,1626,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.15,0.156,0.072,0.198,0.28,0.62,0.22,0.09,0.19,99710,7027,ENSG00000100345,ENST00000216181,CCDS13927.1,MYH9,0.83,benign,0.013,tolerated,0.63,0.25298,5.367,P35579_I1626V,I,V,1626,IV,I1626V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,-1.761,-2.202,0.441,,,,,,20.769,20.769,91.22,0.000578376,0,0.0228735,1.02256
208,P35499,V,I,781,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.09,0.005,0.001,0.006,0.01,0.03,0.02,,0.004,15722,18643,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.43,possibly_damaging,0.756,deleterious,0.05,4.3175,22.6,P35499_V781I,V,I,781,VI,V781I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.117,-2.149,1.032,,,,,,17.998,17.998,49.78,6.67e-05,0,0.00263976,0.974036
245,P21817,I,T,2453,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.08,,,,,,,,,66940,86925,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.49,possibly_damaging,0.438,,,2.74604,15.14,P21817_I2453T,I,T,2453,IT,I2453T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.552,-3.463,1.911,,,,,,2.37,,8.46,,,,0.841164
256,P21817,R,W,2452,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.08,,,,,,,,,66936,86929,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.49,possibly_damaging,0.882,,,2.69837,14.98,P21817_R2452W,R,W,2452,RW,R2452W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.056,-5.353,4.297,,,,,,0.046,,8.46,,,,0.747835
257,P21817,R,H,2454,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.07,,,,,,,,,66943,86922,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.49,possibly_damaging,0.699,,,3.821,19.4,P21817_R2454H,R,H,2454,RH,R2454H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.119,-4.299,3.18,,,,,,1.137,,28.86,,,,0.786712
264,P21817,S,Y,71,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.07,,,,,,,,,8695,145170,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.01,benign,0.43,,,2.13474,13.09,P21817_S71Y,S,Y,71,SY,S71Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.735,-4.275,2.54,0.152,E,b,0.48,0.26,0.736,,48.79,,,,0.575619
267,P21817,T,M,4704,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.08,,,,0.001,0.002,,,,139604,14261,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.93,,,,,2.60914,14.68,P21817_T4704M,T,M,4704,TM,T4704M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,,,,0.953797
293,P10071,G,R,1336,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.07,,,,,,,,,187388,985,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.85,possibly_damaging,0.448,deleterious,0.02,3.29677,17.08,P10071_G1336R,G,R,1336,GR,G1336R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.611,-3.768,2.157,,,,,,4.726,,87.97,0.000548601,0,0.021696,0.866586
300,P08686,S,T,269,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.07,0.141,0.219,0.098,0.14,0.1,0.13,0.23,0.11,858,100,ENSG00000231852,ENST00000418967,CCDS4735.1,CYP21A2,0.54,benign,0.019,tolerated,0.34,0.784234,8.136,P08686_S269T,S,T,269,ST,S269T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,,,,,,,,,,,,0.00298468,0,0.118038,0.96655
309,P05106,R,Q,468,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.08,0,0,0,0.01,0.02,,0.002,0.004,1369,251,ENSG00000259207,ENST00000435993,,ITGB3,0.62,benign,0.001,tolerated,0.52,1.415,10.67,P05106_R468Q,R,Q,468,RQ,R468Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00149296,0,0.0590436,0.917458
339,P02545,K,T,260,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.15,,,,,,,,,102,578,ENSG00000160789,ENST00000392353,,LMNA,0.53,probably_damaging,0.998,deleterious,0,3.94103,20.1,P02545_K260T,K,T,260,KT,K260T,PositiveCharge,Polar,9.74,5.6,-4.14,146,119,-27,168.6,116.1,-52.5,78,-1.353,-3.742,2.389,,,,,,3.649,,78.92,0.00160183,0,0.063349,0.862582
344,P01229,W,R,28,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.07,0.064,0.043,0.075,0.06,0.04,0.06,0.05,0.09,443,668,ENSG00000104826,ENST00000221421,CCDS12748.1,LHB,0.2,benign,0,tolerated,0.35,-0.987219,0.28,P01229_W28R,W,R,28,WR,W28R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-3.862,-2.758,-1.104,,,,,,28.548,28.548,78.72,0.00665492,0,0.263188,0.985042
358,O95967,R,Q,409,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.12,,,,,,,,,57,45,ENSG00000172638,ENST00000307998,CCDS8116.1,EFEMP2,0.92,benign,0.031,tolerated,0.08,3.9606,20.3,O95967_R409Q,R,Q,409,RQ,R409Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.578,-2.225,0.647,,,,,,14.487,14.487,89.62,0.00612336,0,0.242166,1.01795
363,O95255,L,I,946,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.64,0.05,0.012,0.005,0.015,0.01,,0.02,0.002,0.03,53630,19672,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.63,benign,0.046,tolerated,0.78,-1.77064,0.01,O95255_L946I,L,I,946,LI,L946I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,-1.849,-2.244,0.395,,,,,,21.769,21.769,54.96,0.000605339,0,0.0239398,1.00962
5,O75161,Q,X,793,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.15,,,,,,,,,17931,899,ENSG00000131697,ENST00000378156,CCDS44052.1,NPHP4,0.56,,,,,6.62683,37,O75161_Q793X,Q,X,793,QX,Q793X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000448475,0,0.0152939,0.98231
55,P42898,L,P,364,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,8085,6867,ENSG00000177000,ENST00000376585,,MTHFR,0.52,probably_damaging,0.999,deleterious,0,4.55499,24.7,P42898_L364P,L,P,364,LP,L364P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00207141,0,0.0706395,0.964361
93,Q9BXM7,G,D,309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,870,1982,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.53,probably_damaging,1,deleterious,0,5.20634,33,Q9BXM7_G309D,G,D,309,GD,G309D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.985,-3.279,2.294,,,,,,2.462,,50.26,0.00110418,0,0.0376549,0.844132
94,Q9BXM7,T,M,313,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,858,1994,ENSG00000158828,ENST00000321556,CCDS211.1,PINK1,0.54,probably_damaging,0.996,deleterious,0,4.90164,28.2,Q9BXM7_T313M,T,M,313,TM,T313M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.067,-4.297,3.23,,,,,,,,,0.00161864,0,0.0551989,0.728059
101,P05186,R,C,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,7044,3086,ENSG00000162551,ENST00000374840,CCDS217.1,ALPL,0.14,probably_damaging,1,deleterious,0,4.61785,25.2,P05186_R71C,R,C,71,RC,R71C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,0.226,H,A,1.66,-0.94,,,,0.000467798,0,0.0159529,0.627537
102,P05186,R,P,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,7045,3085,ENSG00000162551,ENST00000374840,CCDS217.1,ALPL,0.14,probably_damaging,1,deleterious,0,4.59674,25,P05186_R71P,R,P,71,RP,R71P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.281,-3.657,2.376,0.226,H,A,0.68,-0.94,,,,0.000467798,0,0.0159529,0.681182
105,P05186,G,V,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,9971,159,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.19,probably_damaging,0.999,deleterious,0,4.80233,27.1,P05186_G85V,G,V,85,GV,G85V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.00320039,0,0.10914,0.945923
107,P05186,Q,P,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,10106,24,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.29,probably_damaging,0.935,deleterious,0.01,4.5544,24.6,P05186_Q130P,Q,P,130,QP,Q130P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,,,,,,,,,,,,0.00336399,0,0.114719,0.965877
125,Q14376,G,D,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,709,83,ENSG00000117308,ENST00000429356,,GALE,0.89,probably_damaging,1,deleterious,0,4.99736,29.3,Q14376_G212D,G,D,212,GD,G212D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00532963,0,0.181751,0.938464
140,Q5SW96,S,Y,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,326,3859,ENSG00000157978,ENST00000374338,CCDS30639.1,LDLRAP1,0.66,possibly_damaging,0.78,deleterious,0.01,3.05416,16.19,Q5SW96_S202Y,S,Y,202,SY,S202Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-2.002,-4.081,2.079,,,,,,1.944,,90.91,0.00382654,0,0.130493,0.88662
155,Q9NTQ9,T,P,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,1766,81,ENSG00000189433,ENST00000339480,CCDS383.1,GJB4,0.32,probably_damaging,0.998,deleterious,0,4.97016,29,Q9NTQ9_T85P,T,P,85,TP,T85P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.285,-2.345,1.06,,,,,,15.995,15.995,48.87,0.00319071,0,0.10881,0.967369
163,O75712,C,S,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,2740,1347,ENSG00000188910,ENST00000373366,CCDS384.1,GJB3,0.32,possibly_damaging,0.831,tolerated,0.15,2.63275,14.76,O75712_C86S,C,S,86,CS,C86S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.545,-3.176,1.631,,,,,,4.31,,46.67,,,,0.849501
187,Q8N6F1,G,D,20,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,136,5010,ENSG00000164007,ENST00000296387,CCDS471.1,CLDN19,0.09,probably_damaging,0.991,deleterious,0,4.64881,25.5,Q8N6F1_G20D,G,D,20,GD,G20D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.27,-3.33,2.06,,,,,,1.552,,53.12,0.00581522,0,0.198311,0.851149
197,P11166,R,X,330,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.09,,,,,,,,,2108,131,ENSG00000117394,ENST00000426263,CCDS477.1,SLC2A1,0.67,,,,,7.2337,38,P11166_R330X,R,X,330,RX,R330X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00291687,0,0.0994712,0.951177
201,P11166,A,T,180,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,1489,290,ENSG00000117394,ENST00000439722,,SLC2A1,0.72,possibly_damaging,0.884,deleterious,0.04,5.37803,34,P11166_A180T,A,T,180,AT,A180T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00208117,0,0.0709723,0.975991
265,Q8WZ55,I,T,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,288,11663,ENSG00000162399,ENST00000371265,CCDS602.1,BSND,0.04,probably_damaging,0.994,deleterious,0,4.11538,21.2,Q8WZ55_I12T,I,T,12,IT,I12T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.126,-3.277,2.151,,,,,,,,,0.00107899,0,0.036796,0.781221
268,Q8NBP7,F,L,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,1466,352,ENSG00000169174,ENST00000543384,,PCSK9,0.06,benign,0.307,deleterious,0.01,3.45201,17.69,Q8NBP7_F16L,F,L,16,FL,F16L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.000301106,0,0.0102683,0.984454
337,O95076,N,S,203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,3210,1006,ENSG00000156150,ENST00000369792,CCDS819.1,ALX3,0.59,probably_damaging,0.99,deleterious,0,4.58431,24.9,O95076_N203S,N,S,203,NS,N203S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.162,-2.713,1.551,,,,,,,,,,,,0.860263
418,P02545,L,R,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.23,,,,,,,,,372,47,ENSG00000160789,ENST00000347559,,LMNA,0.09,probably_damaging,0.986,deleterious,0.02,5.03965,29.8,P02545_L59R,L,R,59,LR,L59R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.044,-3.023,1.979,,,,,,13.161,13.161,70.18,0.000710696,0,0.0242362,0.958535
428,P02545,R,C,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,155,43,ENSG00000160789,ENST00000392353,,LMNA,0.44,probably_damaging,0.95,deleterious,0.03,4.3335,22.8,P02545_R217C,R,C,217,RC,R217C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00112305,0,0.0382984,0.887012
430,P02545,R,C,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,43,843,ENSG00000160789,ENST00000392353,,LMNA,0.65,benign,0.135,tolerated,0.07,1.46528,10.84,P02545_R318C,R,C,318,RC,R318C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00175947,0,0.0600014,0.917675
440,P02545,L,P,449,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,250,55,ENSG00000160789,ENST00000392353,,LMNA,0.91,probably_damaging,1,deleterious,0,4.1772,21.6,P02545_L449P,L,P,449,LP,L449P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.000885534,0,0.0301985,0.981753
447,P04629,Y,C,329,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,296,33,ENSG00000198400,ENST00000392302,CCDS30890.1,NTRK1,0.43,probably_damaging,1,deleterious,0,4.93988,28.7,P04629_Y329C,Y,C,329,YC,Y329C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.000714871,0,0.0243786,0.957538
448,P04629,G,R,541,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,2343,297,ENSG00000198400,ENST00000392302,CCDS30890.1,NTRK1,0.71,probably_damaging,1,deleterious,0,5.33402,34,P04629_G541R,G,R,541,GR,G541R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.000575625,0,0.01963,0.972859
697,Q13751,Q,X,243,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,,,,,,,,,18657,17701,ENSG00000196878,ENST00000356082,CCDS1487.1,LAMB3,0.21,,,,,4.64887,25.5,Q13751_Q243X,Q,X,243,QX,Q243X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000195851,0,0.00667894,0.98231
737,Q5T442,Y,D,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,8720,1255,ENSG00000198835,ENST00000366714,CCDS1569.1,GJC2,0.62,probably_damaging,0.998,deleterious,0,3.71443,18.87,Q5T442_Y272D,Y,D,272,YD,Y272D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.169,-3.82,2.651,,,,,,0.225,,13.9,0.00215505,0,0.0734917,0.756755
745,P68133,L,P,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,1961,884,ENSG00000143632,ENST00000366683,,ACTA1,0.47,probably_damaging,0.991,,,2.77157,15.23,P68133_L135P,L,P,135,LP,L135P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.000525576,0,0.0179232,0.981753
839,P07949,C,Y,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,36576,939,ENSG00000165731,ENST00000498820,,RET,0.76,probably_damaging,0.998,deleterious,0,3.89338,19.79,P07949_C137Y,C,Y,137,CY,C137Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.595,-3.973,2.378,0.19,.,B,0.25,0.3,0.477,,26.48,0.000231447,0,0.00789283,0.695294
840,P07949,C,S,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,36576,939,ENSG00000165731,ENST00000498820,,RET,0.76,probably_damaging,0.995,deleterious,0,4.05201,20.8,P07949_C137S,C,S,137,CS,C137S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.595,-2.027,0.432,0.19,.,B,0.73,0.3,5.824,5.824,26.48,0.000231447,0,0.00789283,0.863151
841,P07949,C,F,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,36576,939,ENSG00000165731,ENST00000498820,,RET,0.76,probably_damaging,0.998,deleterious,0.01,3.80158,19.3,P07949_C137F,C,F,137,CF,C137F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.595,-3.878,2.283,0.19,.,B,0.12,0.3,0.552,,26.48,0.000231447,0,0.00789283,0.703359
856,#N/A,R,X,77,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.09,,,,,,,,,6291,2012,ENSG00000258838,ENST00000515869,,RP11-123B3.6,0.07,,,,,4.17506,21.6,#N/A_R77X,R,X,77,RX,R77X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
877,P11161,R,W,359,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.17,,,,,,,,,2793,871,ENSG00000122877,ENST00000439032,CCDS7267.1,EGR2,0.75,probably_damaging,0.928,deleterious,0,2.31247,13.69,P11161_R359W,R,W,359,RW,R359W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.435,-5.162,3.727,,,,,,0.324,,64.5,0.000523849,0,0.0178643,0.844342
885,Q9Y4Z2,R,L,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.24,,,,,,,,,473,1068,ENSG00000122859,ENST00000242462,CCDS31212.1,NEUROG3,0.43,probably_damaging,1,deleterious,0,5.38801,34,Q9Y4Z2_R93L,R,L,93,RL,R93L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.064,-3.233,2.169,,,,,,,,,0.00150457,0,0.0513088,0.737852
887,#N/A,P,L,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,0,0.001,0,0.002,0.002,0.003,0.004,,800,930,ENSG00000197604,ENST00000420338,,AC022532.1,0.71,probably_damaging,0.918,,,0.659011,7.533,#N/A_P111L,P,L,111,PL,P111L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
889,P14222,G,E,429,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,647,1086,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.77,probably_damaging,1,deleterious,0,3.35589,17.3,P14222_G429E,G,E,429,GE,G429E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.705,-3.574,2.869,0.092,.,b,0.75,-1.46,,,,0.00162396,0,0.0553803,0.529034
903,Q9BZD2,G,S,427,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,0,0,0,,,,,,10771,61,ENSG00000198246,ENST00000373189,CCDS7310.1,SLC29A3,0.9,probably_damaging,1,deleterious,0,5.73177,36,Q9BZD2_G427S,G,S,427,GS,G427S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.763,-3.016,2.253,,,,,,,,,0.00583221,0,0.19889,0.766467
943,P47804,S,R,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,2,248,ENSG00000148604,ENST00000358110,CCDS41543.1,RGR,0.26,possibly_damaging,0.88,deleterious,0.03,4.15512,21.5,P47804_S66R,S,R,66,SR,S66R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.441,-3.693,2.252,,,,,,2.041,,52.92,0.00358211,0,0.122157,0.838887
1064,Q9UMD9,R,X,1226,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.08,,,,,,,,,51292,3425,ENSG00000065618,ENST00000353479,CCDS7554.1,COL17A1,0.82,,,,,10.9722,44,Q9UMD9_R1226X,R,X,1226,RX,R1226X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
1124,P10746,T,M,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,6245,63,ENSG00000188690,ENST00000368797,CCDS7648.1,UROS,0.86,probably_damaging,1,deleterious,0,4.14015,21.4,P10746_T228M,T,M,228,TM,T228M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.149,-4.257,3.108,0.05,H,A,0.77,-1.03,,,,0.00402003,0,0.137091,0.542302
1125,P10746,G,S,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,0,0,0,,,,,,6235,73,ENSG00000188690,ENST00000368797,CCDS7648.1,UROS,0.85,probably_damaging,0.999,deleterious,0,4.78048,26.9,P10746_G225S,G,S,225,GS,G225S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,0.149,S,B,0.02,-0.78,,,,0.00598809,0,0.204206,0.660433
1153,P07339,W,C,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,1354,210,ENSG00000117984,ENST00000429746,,CTSD,0.85,probably_damaging,0.997,deleterious,0,4.15207,21.5,P07339_W160C,W,C,160,WC,W160C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,0.0029477,0.0119048,0.100523,0.921004
1156,P48788,R,Q,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,1305,156,ENSG00000130598,ENST00000252898,CCDS31333.1,TNNI2,0.96,probably_damaging,0.982,deleterious,0,4.38843,23.2,P48788_R174Q,R,Q,174,RQ,R174Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,,,,,,,,,0.0470566,0.375,1.60473,0.868974
1159,P01308,C,Y,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,1074,46,ENSG00000254647,ENST00000381330,CCDS7729.1,INS,0.87,probably_damaging,0.996,deleterious,0,3.33252,17.21,P01308_C96Y,C,Y,96,CY,C96Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.111,-4.018,2.907,,,,,,,,,0.00390398,0,0.133134,0.755053
1160,P01308,V,L,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,1061,59,ENSG00000254647,ENST00000381330,CCDS7729.1,INS,0.84,probably_damaging,0.999,deleterious,0,3.15743,16.56,P01308_V92L,V,L,92,VL,V92L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.039,-2.539,1.5,,,,,,,,,0.00848272,0,0.289278,0.850524
1161,P01308,G,C,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,1055,65,ENSG00000254647,ENST00000381330,CCDS7729.1,INS,0.82,probably_damaging,1,deleterious,0,2.63181,14.76,P01308_G90C,G,C,90,GC,G90C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.922,-4.988,4.066,,,,,,0.413,,55.45,0.0101884,0,0.347444,0.730568
1162,P01308,R,L,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,1053,67,ENSG00000254647,ENST00000381330,CCDS7729.1,INS,0.81,possibly_damaging,0.645,deleterious,0,2.58435,14.6,P01308_R89L,R,L,89,RL,R89L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.23,-3.208,1.978,,,,,,3.622,,55.45,0.00713048,0,0.243164,0.798818
1163,P01308,R,H,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,1053,67,ENSG00000254647,ENST00000381330,CCDS7729.1,INS,0.81,probably_damaging,0.993,deleterious,0,2.6518,14.83,P01308_R89H,R,H,89,RH,R89H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.23,-4.21,2.98,,,,,,0.81,,55.45,0.00713048,0,0.243164,0.778043
1164,P01308,R,C,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,1052,68,ENSG00000254647,ENST00000381330,CCDS7729.1,INS,0.81,probably_damaging,0.993,deleterious,0,1.88924,12.28,P01308_R89C,R,C,89,RC,R89C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.23,-4.876,3.646,,,,,,1.014,,55.45,0.00713048,0,0.243164,0.719334
1188,P51787,W,S,305,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,111543,73,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.45,probably_damaging,1,deleterious,0.01,4.09167,21.1,P51787_W305S,W,S,305,WS,W305S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.198,-3.613,2.415,,,,,,,,,0.00014648,0,0.00499526,0.774433
1267,Q14654,I,V,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,456,165,ENSG00000187486,ENST00000528731,CCDS53606.1,KCNJ11,0.69,probably_damaging,0.995,deleterious,0.02,4.01878,20.6,Q14654_I209V,I,V,209,IV,I209V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.00101479,0,0.0346066,0.936291
1268,Q14654,I,L,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,456,165,ENSG00000187486,ENST00000528731,CCDS53606.1,KCNJ11,0.69,probably_damaging,0.995,deleterious,0.01,4.5433,24.5,Q14654_I209L,I,L,209,IL,I209L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,0.00101479,0,0.0346066,0.933711
1281,Q14654,F,V,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,671,346,ENSG00000187486,ENST00000528992,,KCNJ11,0.26,probably_damaging,0.998,tolerated,0.2,3.30943,17.12,Q14654_F41V,F,V,41,FV,F41V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,,,,,,,,,,,,0.00197482,0,0.0673455,0.96788
1282,Q14654,F,L,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,671,346,ENSG00000187486,ENST00000528992,,KCNJ11,0.26,probably_damaging,0.994,deleterious,0.01,4.28772,22.4,Q14654_F41L,F,L,41,FL,F41L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,0.00197482,0,0.0673455,0.965864
1384,Q9H161,S,X,207,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,,,,,,,,,34662,15061,ENSG00000052850,ENST00000329255,CCDS31468.1,ALX4,0.5,,,,,5.35596,34,Q9H161_S207X,S,X,207,SX,S207X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00363259,0.00980392,0.123879,0.953542
1394,P00734,M,T,380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,8773,11497,ENSG00000180210,ENST00000530231,,F2,0.65,probably_damaging,0.99,tolerated,0.07,3.93141,20,P00734_M380T,M,T,380,MT,M380T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.296,-3.277,1.981,,E,B,0.77,-0.97,,,,0.00145927,0,0.0497642,0.579733
1415,Q13702,R,C,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,1201,9369,ENSG00000165917,ENST00000352508,CCDS7937.1,RAPSN,0.46,probably_damaging,0.93,deleterious,0,3.36819,17.35,Q13702_R164C,R,C,164,RC,R164C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.00170905,0,0.0582823,0.704489
1416,Q13702,E,K,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,1195,9375,ENSG00000165917,ENST00000352508,CCDS7937.1,RAPSN,0.46,possibly_damaging,0.871,deleterious,0,5.13099,32,Q13702_E162K,E,K,162,EK,E162K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.00149055,0,0.0508309,0.837447
1417,Q13702,F,S,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,1127,9443,ENSG00000165917,ENST00000352508,CCDS7937.1,RAPSN,0.39,probably_damaging,0.996,deleterious,0,4.89678,28.2,Q13702_F139S,F,S,139,FS,F139S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.351,-3.346,1.995,,,,,,,,,0.00218272,0,0.0744354,0.797321
1458,Q96S37,E,D,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,7316,2973,ENSG00000197891,ENST00000473690,CCDS8076.1,SLC22A12,0.23,probably_damaging,0.993,tolerated,0.5,1.90544,12.33,Q96S37_E77D,E,D,77,ED,E77D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,,,,,,,,,,,,0.00148291,0,0.0505702,0.916523
1470,P11217,G,S,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,0,0,0,0.001,,0.003,,,2149,11437,ENSG00000068976,ENST00000164139,CCDS8079.1,PYGM,0.24,probably_damaging,1,deleterious,0,5.82099,36,P11217_G205S,G,S,205,GS,G205S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.008,-2.842,1.834,0.287,.,g,0.02,-0.55,,,,0.000142447,0,0.00485774,0.823884
1475,O00255,D,N,423,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,861,6,ENSG00000133895,ENST00000443283,CCDS8083.1,MEN1,0.69,probably_damaging,1,deleterious,0,5.43675,35,O00255_D423N,D,N,423,DN,D423N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.764,-3.2,2.436,,,,,,,,,0.00200955,0,0.0685296,0.815868
1503,P11498,R,Q,631,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,1083,1026,ENSG00000173599,ENST00000393960,CCDS8152.1,PC,0.54,probably_damaging,1,deleterious,0,5.56989,35,P11498_R631Q,R,Q,631,RQ,R631Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,0.111,H,A,0.56,-0.15,,,,0.000116065,0,0.00395806,0.748199
1505,P11498,T,A,569,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,404,1705,ENSG00000173599,ENST00000393960,CCDS8152.1,PC,0.48,probably_damaging,0.996,deleterious,0,4.54658,24.6,P11498_T569A,T,A,569,TA,T569A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.577,-2.714,1.137,,I,A,0.22,-1.13,3.307,,59.08,0.00017038,0,0.00581031,0.749983
1506,P11498,S,T,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,37493,906,ENSG00000173599,ENST00000524491,,PC,0.46,possibly_damaging,0.625,deleterious,0.02,5.41062,34,P11498_S226T,S,T,226,ST,S226T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,,,,,,,,,,,,0.00124576,0,0.0424828,0.91619
1507,P11498,R,Q,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,36567,21,ENSG00000173599,ENST00000524491,,PC,0.24,possibly_damaging,0.826,deleterious,0,5.97585,36,P11498_R116Q,R,Q,116,RQ,R116Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,8.47e-05,0,0.00289013,1.00307
1514,O00170,Q,X,101,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.08,,,,,,,,,723,381,ENSG00000110711,ENST00000528641,,AIP,0.51,,,,,4.74051,26.5,O00170_Q101X,Q,X,101,QX,Q101X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00322426,0,0.109954,0.955443
1549,O75197,L,V,768,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,95,3072,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.48,probably_damaging,0.999,tolerated,0.12,3.01852,16.07,O75197_L768V,L,V,768,LV,L768V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.208,-2.589,1.381,0.029,E,B,0.11,-0.56,,,,0.000251116,0,0.00856356,0.797229
1550,O75197,T,A,798,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,0.001,0.004,,,,1480,1687,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.49,benign,0.17,deleterious,0.02,3.41124,17.52,O75197_T798A,T,A,798,TA,T798A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-1.568,-2.77,1.202,0.403,E,B,0.22,-0.22,3.828,,81.55,0.000307635,0,0.010491,0.897064
1553,O75197,Y,H,1168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,113368,23221,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.72,probably_damaging,0.967,deleterious,0,4.43369,23.6,O75197_Y1168H,Y,H,1168,YH,Y1168H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.282,-3.516,2.234,0.05,E,B,0.38,-0.37,,,,0.000253104,0,0.00863136,0.623136
1554,O75197,C,G,1361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,124285,12304,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.84,probably_damaging,1,deleterious,0,4.66776,25.7,O75197_C1361G,C,G,1361,CG,C1361G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.412,-3.319,1.907,,,,,,,,,0.000481733,0,0.0164281,0.880605
1555,O75197,E,K,1367,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.17,,,,,,,,,124303,12286,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.85,probably_damaging,1,deleterious,0,5.67693,36,O75197_E1367K,E,K,1367,EK,E1367K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.000195882,0,0.00667997,0.918158
1569,P50416,E,G,360,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,14370,846,ENSG00000110090,ENST00000539743,CCDS8185.1,CPT1A,0.47,probably_damaging,0.992,deleterious,0,4.39205,23.2,P50416_E360G,E,G,360,EG,E360G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.464,-3.267,1.803,,,,,,3.069,,76.84,0.00171815,0,0.0585925,0.925627
1582,P38935,F,L,369,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,863,4153,ENSG00000132740,ENST00000255078,CCDS8187.1,IGHMBP2,0.37,probably_damaging,0.995,deleterious,0.01,3.13826,16.49,P38935_F369L,F,L,369,FL,F369L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.295,-1.956,0.661,,,,,,13.652,13.652,36.35,,,,0.907317
1631,Q13402,Y,X,333,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.08,,,,,,,,,30124,26570,ENSG00000137474,ENST00000409893,CCDS53685.1,MYO7A,0.28,,,,,7.84089,39,Q13402_Y333X,Y,X,333,YX,Y333X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
1639,Q13402,E,K,351,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,4662,1840,ENSG00000137474,ENST00000458169,,MYO7A,0.26,probably_damaging,0.965,deleterious,0,4.80924,27.2,Q13402_E351K,E,K,351,EK,E351K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
1749,O14521,C,X,11,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.09,,,,,,,,,22,1791,ENSG00000204370,ENST00000528182,,SDHD,0.08,,,,,2.94598,15.82,O14521_C11X,C,X,11,CX,C11X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00307223,0,0.10477,0.953637
1769,Q6Q788,Q,X,139,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.11,,,,,,,,,1082,71,ENSG00000110243,ENST00000542499,CCDS8376.2,APOA5,0.38,,,,,4.46782,23.9,Q6Q788_Q139X,Q,X,139,QX,Q139X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
1770,P06727,E,K,250,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,0,0,0,,,,,,1997,607,ENSG00000110244,ENST00000357780,CCDS31681.1,APOA4,0.63,probably_damaging,0.936,deleterious,0.01,4.77163,26.8,P06727_E250K,E,K,250,EK,E250K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.394,-2.461,1.067,,,,,,6.927,6.927,70.96,0.0050289,0,0.171496,1.07125
1783,P02647,K,X,109,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.11,,,,,,,,,104,470,ENSG00000118137,ENST00000375329,,APOA1,0.44,,,,,6.11964,37,P02647_K109X,K,X,109,KX,K109X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00523102,0,0.178389,0.937083
1857,Q96MS0,Q,X,751,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.01,,,,,,,,,541,2091,ENSG00000154134,ENST00000538940,,ROBO3,0.55,,,,,9.33561,42,Q96MS0_Q751X,Q,X,751,QX,Q751X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00014823,0,0.00505495,0.983498
1870,Q9Y5Y6,G,R,827,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,49906,643,ENSG00000149418,ENST00000278742,CCDS8487.1,ST14,0.97,probably_damaging,1,deleterious,0,4.73256,26.4,Q9Y5Y6_G827R,G,R,827,GR,G827R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,0.333,.,b,0.91,-0.83,,,,0.00789701,0,0.269304,0.572585
1914,P04275,G,S,1324,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,2479,81,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.47,probably_damaging,1,deleterious,0.01,4.17031,21.6,P04275_G1324S,G,S,1324,GS,G1324S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.044,-3.228,2.184,0.011,S,b,0.02,0.28,4.885,,12.12,4.93e-05,0,0.00168067,0.728869
1918,P04275,R,W,1306,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,2425,27,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.46,probably_damaging,0.998,deleterious,0,3.72914,18.94,P04275_R1306W,R,W,1306,RW,R1306W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.629,-5.463,3.834,0.077,T,a,1.67,-0.35,0.496,,85.74,0.000131331,0,0.00447865,0.600863
1928,P04275,Y,X,357,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.12,,,,,,,,,52307,78489,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.13,,,,,5.72209,36,P04275_Y357X,Y,X,357,YX,Y357X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,9.16e-05,0,0.00312383,0.977829
2019,P02458,C,X,1438,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.08,,,,,,,,,14380,685,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.97,,,,,11.1575,44,P02458_C1438X,C,X,1438,CX,C1438X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00166314,0,0.0567164,0.903046
2028,P02458,R,X,932,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,,,,,,,,,9774,5291,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.63,,,,,9.60696,42,P02458_R932X,R,X,932,RX,R932X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00130068,0,0.0443558,0.900587
2031,P02458,G,R,891,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.03,,,,,,,,,8455,6610,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.6,,,deleterious,0,4.05229,20.8,P02458_G891R,G,R,891,GR,G891R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,0,,,,1.62e-05,0,0.000550783,0.639147
2034,P02458,R,C,719,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,970,1543,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.48,probably_damaging,0.991,deleterious,0,4.54655,24.6,P02458_R719C,R,C,719,RC,R719C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,0,,,,0.000393388,0,0.0134153,0.66205
2093,Q14533,E,K,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,4423,1199,ENSG00000205426,ENST00000327741,CCDS31805.1,KRT81,0.82,probably_damaging,0.971,deleterious,0.01,5.47375,35,Q14533_E413K,E,K,413,EK,E413K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.005,-2.863,1.858,,,,,,,,,0.00132527,0,0.0451944,0.823241
2119,P35908,T,P,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,5391,2216,ENSG00000172867,ENST00000309680,CCDS8835.1,KRT2,0.75,probably_damaging,1,deleterious,0,4.67494,25.8,P35908_T479P,T,P,479,TP,T479P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.195,-3.634,2.439,,,,,,0.713,,43.66,,,,0.779064
2144,Q92781,A,P,294,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,0,0,0,,,,,,1101,30,ENSG00000135437,ENST00000548082,CCDS31829.1,RDH5,0.92,possibly_damaging,0.596,deleterious,0,3.90986,19.88,Q92781_A294P,A,P,294,AP,A294P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.564,-3.768,2.204,,,,,,0.792,,55.35,0.0122317,0,0.417127,0.790068
2243,Q96EY8,R,W,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,0,0,0,,,,,,12412,617,ENSG00000139428,ENST00000266839,,MMAB,0.6,probably_damaging,1,deleterious,0,2.52233,14.39,Q96EY8_R95W,R,W,95,RW,R95W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
2248,Q03426,V,I,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,0.002,0.001,0.002,,,,,,8654,67,ENSG00000110921,ENST00000540353,,MVK,0.83,benign,0.156,tolerated,0.07,2.15397,13.16,Q03426_V96I,V,I,96,VI,V96I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,,,,,,,,,,,,0.00446457,0,0.152251,0.966893
2303,P16219,A,V,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,12078,134,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.47,probably_damaging,0.982,deleterious,0,5.5538,35,P16219_A192V,A,V,192,AV,A192V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,0.097,.,B,0.44,-0.82,,,,0.00279537,0,0.0953278,0.738204
2307,P16219,R,W,380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.17,,,,,,,,,13486,248,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.92,probably_damaging,1,deleterious,0,2.67935,14.92,P16219_R380W,R,W,380,RW,R380W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.128,H,A,1.67,-0.13,,,,0.00205959,0,0.0702361,0.587771
2429,P35670,H,Q,639,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,0.001,0,0.001,0.001,,0.01,,0.001,2419,36,ENSG00000123191,ENST00000400370,,ATP7B,0.62,benign,0.012,deleterious,0,2.41461,14.03,P35670_H639Q,H,Q,639,HQ,H639Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-2.465,-2.891,0.426,,,,,,16.501,16.501,49.69,0.000576738,0,0.0196679,1.01746
2512,P12883,H,L,1901,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,21872,1109,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.98,probably_damaging,0.999,deleterious,0,5.27426,33,P12883_H1901L,H,L,1901,HL,H1901L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,-1.627,-3.265,1.638,,,,,,,,,0.00773886,0,0.263911,0.834998
2513,P12883,R,W,1712,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,313,35,ENSG00000092054,ENST00000355349,CCDS9601.1,MYH7,0.88,probably_damaging,1,deleterious,0,3.38239,17.41,P12883_R1712W,R,W,1712,RW,R1712W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.000880862,0,0.0300392,0.810166
2570,P22735,S,Y,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,0.004,0.001,0.005,0.003,,0.003,,0.01,953,1,ENSG00000092295,ENST00000560226,,TGM1,1,probably_damaging,0.971,,,3.02041,16.08,P22735_S42Y,S,Y,42,SY,S42Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.656,-4.023,2.367,,,,,,0.701,,59.73,0.00019055,0,0.00649813,0.835715
2592,P55771,R,W,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.23,,,,,,,,,457,113,ENSG00000198807,ENST00000402703,CCDS9662.1,PAX9,0.14,probably_damaging,0.992,deleterious,0,4.1237,21.3,P55771_R47W,R,W,47,RW,R47W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.59,T,l,1.67,-0.67,,,,0.000689628,0,0.0235177,0.692174
2624,P12644,E,G,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,203,53,ENSG00000125378,ENST00000558984,CCDS9715.1,BMP4,0.23,benign,0.007,tolerated,0.14,2.63034,14.76,P12644_E93G,E,G,93,EG,E93G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.437,-2.996,1.559,,,,,,4.206,,53.68,0.00253894,0,0.0865832,0.912567
2625,P12644,S,C,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,0,0,0,,,,,,197,59,ENSG00000125378,ENST00000558984,CCDS9715.1,BMP4,0.22,probably_damaging,0.984,deleterious,0,4.02197,20.6,P12644_S91C,S,C,91,SC,S91C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.502,-4.577,3.075,,,,,,0.47,,53.68,0.00258143,0,0.0880319,0.835055
2638,P30793,R,W,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,45,59406,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.41,probably_damaging,1,deleterious,0,4.20216,21.8,P30793_R88W,R,W,88,RW,R88W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.447,-2.278,0.831,0.479,S,b,1.67,0.5,29.197,29.197,58.8,0.00102787,0,0.0350525,0.881635
2645,Q15475,W,R,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.21,,,,,,,,,637,2683,ENSG00000126778,ENST00000247182,CCDS9748.1,SIX1,0.43,possibly_damaging,0.803,deleterious,0,4.70617,26.1,Q15475_W122R,W,R,122,WR,W122R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.698,-3.839,2.141,,,,,,0.455,,18.31,0.000809825,0,0.0276167,0.864112
2646,Q8WXH0,T,M,6170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,0.004,0,0.006,0.01,,0.003,,0.01,425,56,ENSG00000054654,ENST00000554584,,SYNE2,0.9,,,,,1.83277,12.09,Q8WXH0_T6170M,T,M,6170,TM,T6170M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.135,-4.269,3.134,,,,,,0.449,,12.16,,,,0.777766
2665,Q96NR8,P,A,230,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,2056,527,ENSG00000139988,ENST00000539142,CCDS9787.1,RDH12,0.73,probably_damaging,0.998,deleterious,0,3.81119,19.35,Q96NR8_P230A,P,A,230,PA,P230A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-0.966,-2.895,1.929,,,,,,,,,0.00125058,0,0.0426472,0.833104
2689,P58304,R,W,227,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,20229,3038,ENSG00000119614,ENST00000261980,CCDS9827.1,VSX2,0.63,probably_damaging,0.994,deleterious,0,4.06064,20.9,P58304_R227W,R,W,227,RW,R227W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.00330469,0,0.112697,0.776692
2696,Q14767,R,X,548,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,,,,,,,,,60965,15176,ENSG00000119681,ENST00000261978,CCDS9831.1,LTBP2,0.3,,,,,8.51299,40,Q14767_R548X,R,X,548,RX,R548X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
2711,O95718,V,L,342,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,84145,6829,ENSG00000119715,ENST00000509242,CCDS9850.2,ESRRB,0.67,benign,0.05,tolerated,0.07,3.67804,18.69,O95718_V342L,V,L,342,VL,V342L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.429,-2.413,0.984,,,,,,15.881,,80.51,,,,0.941638
2928,Q9Y3Q4,S,R,672,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,45049,4357,ENSG00000138622,ENST00000261917,CCDS10248.1,HCN4,0.56,,,deleterious,0,1.55827,11.16,Q9Y3Q4_S672R,S,R,672,SR,S672R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.146,-3.525,2.379,0.152,E,B,0.93,-0.03,,,,0.000677441,0,0.0231021,0.667703
2933,Q9BX79,T,P,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,0.001,0,0.001,0.001,,,,0.001,11,6796,ENSG00000137868,ENST00000574278,,STRA6,0.49,possibly_damaging,0.896,deleterious,0.01,3.0411,16.15,Q9BX79_T336P,T,P,336,TP,T336P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,,,,0.953923
2957,P16930,R,W,341,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,0.016,0.003,0.023,0.01,,0.02,0.004,0.02,2777,917,ENSG00000103876,ENST00000407106,CCDS10314.1,FAH,0.81,probably_damaging,0.937,deleterious,0,2.20317,13.32,P16930_R341W,R,W,341,RW,R341W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.593,-5.06,3.467,0.397,.,B,1.67,-0.56,0.602,,90.69,0.00403702,0,0.137671,0.759265
2974,P54098,N,S,864,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,913,33,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.7,possibly_damaging,0.881,deleterious,0.01,5.12488,32,P54098_N864S,N,S,864,NS,N864S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.087,-2.653,1.566,,,,,,3.692,3.035,85.39,0.000220162,0,0.00750799,0.971473
2975,P54098,R,W,853,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,947,2,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.69,probably_damaging,1,deleterious,0,3.85964,19.61,P54098_R853W,R,W,853,RW,R853W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.907,-5.46,4.553,,,,,,0.433,,65.21,0.000362575,0,0.0123646,0.816811
2982,P54098,R,H,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,4607,13921,ENSG00000140521,ENST00000268124,CCDS10350.1,POLG,0.19,probably_damaging,0.946,deleterious,0.05,5.54263,35,P54098_R232H,R,H,232,RH,R232H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.987,-3.47,1.483,,,,,,18.459,18.459,83.29,0.000547957,0,0.0186865,0.975565
3042,Q99758,W,X,110,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.08,,,,,,,,,1376,9618,ENSG00000167972,ENST00000563816,,ABCA3,0.27,,,,,3.12568,16.45,Q99758_W110X,W,X,110,WX,W110X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
3043,Q99758,N,D,510,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,41156,10394,ENSG00000167972,ENST00000382381,,ABCA3,0.31,probably_damaging,0.998,deleterious,0,3.87652,19.7,Q99758_N510D,N,D,510,ND,N510D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,,,,,,,,,,,,,,,0.962527
3044,Q99758,L,P,326,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,22937,28613,ENSG00000167972,ENST00000382381,,ABCA3,0.2,probably_damaging,0.997,deleterious,0,2.82615,15.41,Q99758_L326P,L,P,326,LP,L326P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,,,,0.755898
3065,Q9BT22,S,L,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,0,0,0,,,,,,184,621,ENSG00000033011,ENST00000544428,,ALG1,0.42,possibly_damaging,0.48,deleterious,0,3.71109,18.85,Q9BT22_S147L,S,L,147,SL,S147L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00393236,0,0.134101,0.949277
3081,Q99732,L,V,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,2899,123,ENSG00000189067,ENST00000339430,CCDS32386.1,LITAF,0.76,probably_damaging,0.998,deleterious,0,3.93372,20.1,Q99732_L122V,L,V,122,LV,L122V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.117,-2.631,1.514,,,,,,,,,0.0133789,0.025641,0.456248,0.870993
3089,O95255,G,S,1481,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.03,,,,,,,,,5573,71,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.99,possibly_damaging,0.676,tolerated,0.17,4.25109,22.1,O95255_G1481S,G,S,1481,GS,G1481S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.593,-3.434,1.841,,,,,,4.675,,63.94,0.00502165,0,0.171249,0.936048
3093,O95255,G,G,1435,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.64,0.09,,,,,,,,,5101,543,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.95,,,,,-0.171705,3.163,O95255_G1435G,G,G,1435,GG,G1435G,Special,Special,3.29,3.29,0,75,75,0,60.1,60.1,0,0,,,,,,,,,,,,0.00227811,0,0.0776882,0.987143
3124,O95255,R,K,1273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,65708,7594,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.85,benign,0.349,deleterious,0,3.9909,20.4,O95255_R1273K,R,K,1273,RK,R1273K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,-1.101,-2.826,1.725,,,,,,10.729,10.729,74.12,0.000579005,0,0.0197452,0.970617
3163,O95255,T,I,944,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,53625,19677,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.63,benign,0.002,tolerated,0.34,-0.420408,2.039,O95255_T944I,T,I,944,TI,T944I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-3.051,-2.593,-0.458,,,,,,21.625,21.625,42.45,0.000570465,0,0.019454,1.01529
3165,O95255,Y,X,938,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.04,,,,,,,,,53608,19694,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.62,,,,,6.27692,37,O95255_Y938X,Y,X,938,YX,Y938X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000178488,0,0.00608681,0.970188
3196,O95255,L,P,673,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,0,0,0,,,,,,40579,1151,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.45,probably_damaging,1,deleterious,0,4.42001,23.5,O95255_L673P,L,P,673,LP,L673P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.364,-4.368,3.004,,H,A,1.07,-0.98,1.443,,77.78,0.000625208,0,0.0213209,0.568244
3250,P51168,R,X,611,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.11,,,,,,,,,31982,228,ENSG00000168447,ENST00000307331,,SCNN1B,0.89,,,,,2.99349,15.98,P51168_R611X,R,X,611,RX,R611X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0126295,0,0.430693,0.916566
3271,O14983,P,L,664,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,22175,2237,ENSG00000196296,ENST00000536376,,ATP2A1,0.76,probably_damaging,1,deleterious,0,4.6237,25.3,O14983_P664L,P,L,664,PL,P664L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00129689,0,0.0442267,0.907353
3294,P31639,N,S,654,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,0.007,0.002,0.009,0.004,,0.01,,0.01,988,133,ENSG00000140675,ENST00000330498,CCDS10714.1,SLC5A2,0.97,benign,0.342,deleterious,0.02,3.5059,17.92,P31639_N654S,N,S,654,NS,N654S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.66,-2.984,1.324,,,,,,3.454,,66.07,0.00838635,0,0.285992,0.872014
3362,P04180,A,T,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,9,536,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.27,benign,0.057,tolerated,0.79,1.20429,9.891,P04180_A117T,A,T,117,AT,A117T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.414,-3.071,1.657,,,,,,4.387,,53.41,0.00323819,0,0.110429,0.946398
3380,Q9GZX3,R,S,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.2,,,,,,,,,3656,1124,ENSG00000183196,ENST00000390664,CCDS10918.1,CHST6,0.24,probably_damaging,1,deleterious,0,2.88656,15.62,Q9GZX3_R93S,R,S,93,RS,R93S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.101,-3.241,2.14,,,,,,,,,0.00141505,0,0.0482561,0.738775
3382,O75444,R,P,288,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,863,4709,ENSG00000178573,ENST00000393350,CCDS42198.1,MAF,0.77,probably_damaging,0.999,deleterious,0,3.6203,18.42,O75444_R288P,R,P,288,RP,R288P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.556,-3.757,2.201,,,,,,1.334,,93.3,0.00523106,0,0.17839,0.841521
3403,P13498,R,Q,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,53,632,ENSG00000051523,ENST00000567174,,CYBA,0.43,probably_damaging,0.992,deleterious,0,4.29269,22.5,P13498_R90Q,R,Q,90,RQ,R90Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.938,-2.587,1.649,,,,,,10.971,10.971,51.28,0.00579485,0,0.197616,0.929607
3413,P34059,T,S,312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,5785,31,ENSG00000141012,ENST00000268695,CCDS10970.1,GALNS,0.6,benign,0.246,tolerated,0.35,3.60884,18.37,P34059_T312S,T,S,312,TS,T312S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,-1.149,-2.713,1.564,,,,,,,,,0.0030105,0,0.102664,0.89415
3459,Q8NET8,G,C,573,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,4765,10158,ENSG00000167723,ENST00000301365,,TRPV3,0.72,probably_damaging,0.99,deleterious,0,4.75551,26.6,Q8NET8_G573C,G,C,573,GC,G573C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.861,-4.864,4.003,,,,,,,,,0.000307564,0,0.0104886,0.788268
3460,Q8NET8,G,S,573,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,4765,10158,ENSG00000167723,ENST00000301365,,TRPV3,0.72,benign,0.311,deleterious,0.01,4.63759,25.4,Q8NET8_G573S,G,S,573,GS,G573S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,0.000307564,0,0.0104886,0.859138
3461,O60931,V,I,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,0.02,0.057,0,0.02,,0.003,0.07,,7359,99,ENSG00000040531,ENST00000399306,,CTNS,0.34,benign,0.106,tolerated,0.22,0.936948,8.818,O60931_V42I,V,I,42,VI,V42I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.518,-2.034,0.516,,,,,,23.676,23.676,87.19,0.00218725,0,0.0745896,1.01977
3470,Q04844,L,F,289,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,967,46,ENSG00000108556,ENST00000293780,CCDS11058.1,CHRNE,0.59,probably_damaging,1,deleterious,0,5.30455,34,Q04844_L289F,L,F,289,LF,L289F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.039,-3.434,2.395,0.255,H,A,0.03,0,,,,0.000649453,0,0.0221477,0.795765
3472,Q04844,L,F,241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.2,,,,,,,,,741,62,ENSG00000108556,ENST00000293780,CCDS11058.1,CHRNE,0.49,probably_damaging,0.976,deleterious,0,4.86086,27.8,Q04844_L241F,L,F,241,LF,L241F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.178,-2.216,1.038,0.46,.,B,0.03,0,14.308,14.308,37.12,0.000931018,0,0.0317496,0.884458
3533,Q9BYJ1,V,F,500,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,9252,12863,ENSG00000179148,ENST00000448843,CCDS11130.1,ALOXE3,0.7,probably_damaging,0.976,deleterious,0,4.42311,23.5,Q9BYJ1_V500F,V,F,500,VF,V500F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.314,-3.661,2.347,,,,,,3.721,,82.98,0.00181847,0,0.0620136,0.873011
3552,Q12887,D,G,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,137284,626,ENSG00000006695,ENST00000261643,CCDS11166.1,COX10,0.76,probably_damaging,0.999,deleterious,0.02,4.71124,26.2,Q12887_D336G,D,G,336,DG,D336G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.227,-2.904,1.677,,,,,,4.742,,74.04,0.00301799,0,0.10292,0.950617
3553,Q12887,D,V,336,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,0,0,0,,,,,,137284,626,ENSG00000006695,ENST00000261643,CCDS11166.1,COX10,0.76,probably_damaging,0.999,deleterious,0,4.63757,25.4,Q12887_D336V,D,V,336,DV,D336V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.227,-3.594,2.367,,,,,,1.992,,74.04,0.00301799,0,0.10292,0.856496
3563,Q01453,H,Q,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,77,412,ENSG00000109099,ENST00000426385,,PMP22,0.1,,,,,2.47867,14.25,Q01453_H12Q,H,Q,12,HQ,H12Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.6,-3.405,1.805,,,,,,4.064,,84.38,0.00124796,0,0.042558,0.974799
3564,O14836,R,H,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,0.001,0,0.001,,,,,,711,157,ENSG00000240505,ENST00000583789,,TNFRSF13B,0.63,,,,,0.622884,7.351,O14836_R156H,R,H,156,RH,R156H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
3626,Q99456,Y,D,429,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,4057,129,ENSG00000187242,ENST00000251643,CCDS11378.1,KRT12,0.87,probably_damaging,1,deleterious,0,4.85635,27.7,Q99456_Y429D,Y,D,429,YD,Y429D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-0.99,-3.794,2.804,,,,,,,,,0.00051145,0,0.0174415,0.77736
3660,Q04695,V,M,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,91,1333,ENSG00000128422,ENST00000311208,CCDS11402.1,KRT17,0.24,possibly_damaging,0.67,deleterious,0,4.77409,26.8,Q04695_V102M,V,M,102,VM,V102M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.039,-3.886,2.847,,,,,,,,,0.00077901,0,0.0265659,0.830511
3677,P54802,R,W,565,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,7766,748,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.76,probably_damaging,1,deleterious,0,3.42385,17.58,P54802_R565W,R,W,565,RW,R565W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.101,-5.178,4.077,,,,,,,,,0.00115433,0,0.039365,0.712104
3680,P54802,R,C,643,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,8000,514,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.87,probably_damaging,0.986,deleterious,0,4.04343,20.8,P54802_R643C,R,C,643,RC,R643C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.331,-4.828,3.497,,,,,,1.099,,69.31,0.00198088,0,0.0675521,0.815954
3681,P54802,R,H,643,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,8001,513,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.87,probably_damaging,0.986,deleterious,0,4.20227,21.8,P54802_R643H,R,H,643,RH,R643H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.331,-4.228,2.897,,,,,,0.692,,69.31,0.00198088,0,0.0675521,0.859876
3683,Q96J92,E,G,560,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,6849,9564,ENSG00000126562,ENST00000246914,CCDS11439.1,WNK4,0.45,possibly_damaging,0.892,deleterious,0,4.03208,20.7,Q96J92_E560G,E,G,560,EG,E560G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.229,-3.099,1.87,,,,,,2.484,,31.7,0.000105073,0,0.00358322,0.893298
3710,Q9BUM1,R,H,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,5030,584,ENSG00000141349,ENST00000269097,CCDS11476.1,G6PC3,0.73,probably_damaging,0.999,deleterious,0,5.11052,32,Q9BUM1_R253H,R,H,253,RH,R253H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.184,-4.047,2.863,,,,,,,,,0.00334286,0,0.113999,0.794625
3714,P02730,A,D,858,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,16901,2856,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.94,possibly_damaging,0.853,deleterious,0,4.60214,25.1,P02730_A858D,A,D,858,AD,A858D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.23,-3.996,2.766,,,,,,3.219,,83.64,0.0018616,0,0.0634843,0.858044
3715,P02730,P,L,854,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,0.001,0.001,0.001,0.01,0.03,0.03,0.002,,16889,2868,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.94,benign,0.378,deleterious,0.04,2.31694,13.71,P02730_P854L,P,L,854,PL,P854L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-2.098,-3.65,1.552,,,,,,8.573,,85.07,0.00230243,0,0.0785177,0.955602
3716,P02730,T,A,837,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,16837,2920,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.92,probably_damaging,0.94,deleterious,0,4.42881,23.5,P02730_T837A,T,A,837,TA,T837A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-0.952,-3.115,2.163,,,,,,3.89,,69.26,0.00247064,0,0.0842539,0.869353
3742,P08514,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.64,0.03,,,,,,,,,15154,2169,ENSG00000005961,ENST00000353281,,ITGA2B,,,,,,4.11827,21.2,P08514_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3745,P08514,R,X,977,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.08,,,,,,,,,14833,2490,ENSG00000005961,ENST00000262407,CCDS32665.1,ITGA2B,0.94,,,,,4.39167,23.2,P08514_R977X,R,X,977,RX,R977X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00171499,0,0.0584849,0.911978
3764,P14136,L,P,352,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,4193,5,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.82,probably_damaging,0.999,deleterious,0,4.15982,21.5,P14136_L352P,L,P,352,LP,L352P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00155515,0,0.0530338,0.716354
3794,Q16586,V,A,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,11,59,ENSG00000108823,ENST00000451235,,SGCA,0.41,benign,0.426,deleterious,0,3.9359,20.1,Q16586_V73A,V,A,73,VA,V73A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,,,,,,,,,,,,0.00118758,0,0.0404991,0.921116
3801,P02452,G,V,1151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,1461,514,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.79,,,deleterious,0,3.23926,16.86,P02452_G1151V,G,V,1151,GV,G1151V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,,,,,0,,,,9.27e-06,0,0.000316269,0.656164
3804,P02452,G,C,1082,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,442,221,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.74,,,deleterious,0,2.88647,15.62,P02452_G1082C,G,C,1082,GC,G1082C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.657,-5.046,4.389,,,,,0,,,,0.000372662,0,0.0127086,0.654256
3805,P02452,G,S,1079,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,433,230,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.74,,,deleterious,0,3.76226,19.1,P02452_G1079S,G,S,1079,GS,G1079S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.657,-3.119,2.462,,,,,0,,,,0.000412314,0,0.0140607,0.711984
3811,P02452,R,C,1014,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.03,,,,,,,,,124,1016,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.69,,,deleterious,0,3.71512,18.87,P02452_R1014C,R,C,1014,RC,R1014C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.127,-5.054,3.927,,,,,0,0.131,,8.27,0.000320324,0,0.0109237,0.65255
3812,P02452,G,S,1010,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.03,,,,,,,,,136,1028,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.69,,,deleterious,0,3.96852,20.3,P02452_G1010S,G,S,1010,GS,G1010S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.764,-3.15,2.386,,,,,0,0.152,,2.8,0.000113834,0,0.00388196,0.667358
3815,P02452,G,C,896,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,736,790,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.61,,,deleterious,0,3.5686,18.19,P02452_G896C,G,C,896,GC,G896C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.921,-4.823,3.902,,,,,0,,,,1.41e-05,0,0.000481515,0.646273
3816,P02452,G,C,869,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,1058,443,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.59,,,deleterious,0,3.81165,19.35,P02452_G869C,G,C,869,GC,G869C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.921,-4.823,3.902,,,,,0,,,,1.51e-05,0,0.000516508,0.646273
3823,P02452,G,D,737,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,484,459,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.5,probably_damaging,0.999,deleterious,0,4.85245,27.7,P02452_G737D,G,D,737,GD,G737D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.763,-3.324,2.561,,,,,0,,,,0.000108249,0,0.00369153,0.659407
3824,P02452,G,D,719,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,538,405,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.49,probably_damaging,0.999,deleterious,0,5.26013,33,P02452_G719D,G,D,719,GD,G719D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.763,-3.324,2.561,,,,,0,,,,0.00014543,0,0.00495946,0.687464
3829,P02452,G,D,533,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,13,815,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.36,,,deleterious,0,4.06117,20.9,P02452_G533D,G,D,533,GD,G533D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,,,,0,,,,2.03e-05,0,0.000691357,0.661018
3832,P02452,G,C,356,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,10,424,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.24,,,deleterious,0,3.21489,16.77,P02452_G356C,G,C,356,GC,G356C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.185,-2.258,1.073,,,,,0,29.447,29.447,60.93,2.29e-05,0,0.000781025,0.790588
3834,P02452,G,R,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,433,84,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.23,,,deleterious,0,3.96419,20.3,P02452_G332R,G,R,332,GR,G332R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,0,,,,2.32e-05,0,0.000791024,0.639147
3835,P02452,R,C,312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.03,,,,,,,,,259,184,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.21,,,deleterious,0,4.36873,23,P02452_R312C,R,C,312,RC,R312C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,0,,,,2.34e-05,0,0.000799039,0.636092
3862,P05164,A,V,364,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.17,0.01,0.003,0.013,0.01,,0.01,,0.02,84,802,ENSG00000005381,ENST00000340482,,MPO,0.47,benign,0.181,tolerated,0.1,3.55146,18.11,P05164_A364V,A,V,364,AV,A364V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.553,-3.318,1.765,0.223,.,B,0.44,-0.09,2.855,,86.04,0.00143828,0,0.0490484,0.894784
3879,P01241,R,C,103,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,760,415,ENSG00000259384,ENST00000323322,CCDS11653.1,GH1,0.47,benign,0.046,deleterious,0.01,1.04093,9.252,P01241_R103C,R,C,103,RC,R103C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.676,-4.953,3.277,0.184,H,A,1.66,0.1,0.62,,64.52,0.00476655,0,0.162549,0.607599
3886,P35499,G,E,1456,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,31004,3361,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.79,probably_damaging,0.989,deleterious,0,3.34065,17.25,P35499_G1456E,G,E,1456,GE,G1456E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.842,-3.645,2.803,,,,,,1.859,,91.78,5.9e-05,0,0.00201274,0.850753
3887,P35499,R,H,1448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.17,,,,,,,,,30980,3385,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.79,probably_damaging,0.995,deleterious,0,4.21175,21.9,P35499_R1448H,R,H,1448,RH,R1448H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.111,-4.21,3.099,,,,,,1.783,,92.32,0.000114309,0,0.00389818,0.87035
3925,P48436,A,E,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,598,4803,ENSG00000125398,ENST00000245479,CCDS11689.1,SOX9,0.15,probably_damaging,0.999,deleterious,0,4.62667,25.3,P48436_A76E,A,E,76,AE,A76E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.175,-3.175,2,,,,,,,,,0.00115682,0.00230947,0.03945,0.768305
3942,P16144,R,H,1225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,822,4817,ENSG00000132470,ENST00000579662,,ITGB4,0.7,,,,,2.57947,14.59,P16144_R1225H,R,H,1225,RH,R1225H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.326,-4.193,2.867,0.863,.,B,1.03,1.26,0.201,,13.45,0.000376173,0,0.0128283,0.810337
3951,Q70J99,L,P,403,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,8056,9192,ENSG00000092929,ENST00000207549,CCDS11730.1,UNC13D,0.37,probably_damaging,0.999,tolerated,0.05,3.23556,16.85,Q70J99_L403P,L,P,403,LP,L403P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.285,-4.008,2.723,,,,,,0.851,,78.35,0.000511757,0,0.017452,0.845976
3959,Q7Z403,Y,X,248,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.09,,,,,,,,,4110,11753,ENSG00000141524,ENST00000306591,,TMC6,0.55,,,,,7.20799,38,Q7Z403_Y248X,Y,X,248,YX,Y248X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
3964,P10253,A,V,237,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,5870,145,ENSG00000171298,ENST00000302262,CCDS32760.1,GAA,0.25,possibly_damaging,0.677,deleterious,0,3.75879,19.08,P10253_A237V,A,V,237,AV,A237V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.984,-3.241,1.257,,,,,,10.633,10.633,58.61,0.00128823,0,0.0439313,0.953074
3971,P10253,D,E,645,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,538,27,ENSG00000171298,ENST00000390015,CCDS32760.1,GAA,0.68,probably_damaging,1,deleterious,0,3.70957,18.84,P10253_D645E,D,E,645,DE,D645E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-0.864,-2.901,2.037,,,,,,7.52,7.52,37.71,0.000841149,0,0.0286849,0.888766
3981,P51688,P,L,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,0,0,0,,,,,,16,118,ENSG00000181523,ENST00000576707,,SGSH,0.37,probably_damaging,0.98,deleterious,0,3.31997,17.17,P51688_P41L,P,L,41,PL,P41L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.0021033,0,0.0717268,0.966041
4166,Q15831,Y,X,36,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.17,,,,,,,,,1222,21415,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.08,,,,,14.0356,48,Q15831_Y36X,Y,X,36,YX,Y36X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00191237,0,0.0652158,0.953488
4194,P51993,E,K,247,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,0.128,0.289,0.045,0.13,0.06,0.05,0.39,0.05,3249,329,ENSG00000156413,ENST00000286955,CCDS12152.1,FUT6,0.69,possibly_damaging,0.696,deleterious,0.01,3.09989,16.35,P51993_E247K,E,K,247,EK,E247K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.081,-2.924,1.843,,,,,,4.86,,53.76,0.00100758,0,0.0343604,0.936096
4195,P21217,G,S,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,0.095,0.247,0.017,0.14,0.16,0.18,0.27,0.01,7143,1443,ENSG00000171124,ENST00000458379,CCDS12153.1,FUT3,0.47,probably_damaging,0.986,deleterious,0,2.86455,15.54,P21217_G170S,G,S,170,GS,G170S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.071,-3.233,2.162,,,,,,1.183,,36.57,0.00464215,0,0.158307,0.836305
4215,P06213,L,P,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,109490,72256,ENSG00000171105,ENST00000302850,CCDS12176.1,INSR,0.19,probably_damaging,0.96,tolerated,0.2,2.98998,15.97,P06213_L260P,L,P,260,LP,L260P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.673,-3.941,2.268,0.058,B,B,1.07,-0.79,1.208,,66.71,0.000528684,0,0.0180292,0.594071
4225,Q9GZU1,R,X,322,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.12,,,,,,,,,6073,5326,ENSG00000090674,ENST00000264079,CCDS12180.1,MCOLN1,0.56,,,,,5.73216,36,Q9GZU1_R322X,R,X,322,RX,R322X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00200435,0,0.0683525,0.959275
4234,Q9H324,A,T,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,2661,25397,ENSG00000142303,ENST00000270328,CCDS12206.1,ADAMTS10,0.02,benign,0.104,tolerated,0.22,2.55726,14.51,Q9H324_A25T,A,T,25,AT,A25T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.643,-1.989,0.346,,,,,,15.116,15.116,61.47,0.000528687,0.000927644,0.0180293,1.01186
4256,O00754,L,P,808,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,17538,2585,ENSG00000104774,ENST00000221363,CCDS54224.1,MAN2B1,0.8,probably_damaging,0.999,deleterious,0,3.85293,19.57,O00754_L808P,L,P,808,LP,L808P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00154611,0,0.0527254,0.905673
4275,Q92947,Y,H,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,5774,538,ENSG00000105607,ENST00000421816,,GCDH,0.8,probably_damaging,0.993,deleterious,0,4.36271,23,Q92947_Y262H,Y,H,262,YH,Y262H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.000197887,0,0.00674837,0.991285
4306,P51460,T,S,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,4592,405,ENSG00000248099,ENST00000379695,,INSL3,0.9,possibly_damaging,0.793,tolerated,0.07,2.93845,15.79,P51460_T142S,T,S,142,TS,T142S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,,,,,,,,,,,,,,,0.953324
4307,P51460,A,T,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,0,0,0,,,,,,4567,430,ENSG00000248099,ENST00000379695,,INSL3,0.85,probably_damaging,0.931,tolerated,0.2,2.48459,14.27,P51460_A134T,A,T,134,AT,A134T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,,,,0.956543
4308,P51460,R,C,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,4566,431,ENSG00000248099,ENST00000317306,CCDS12365.1,INSL3,0.78,probably_damaging,0.975,deleterious,0.01,2.91535,15.71,P51460_R102C,R,C,102,RC,R102C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.671,-5.015,3.344,,,,,,0.642,,73.28,0.024709,0.0344828,0.842628,0.787814
4313,Q92911,G,R,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,623,22578,ENSG00000105641,ENST00000222248,CCDS12368.1,SLC5A5,0.14,probably_damaging,0.965,deleterious,0.02,2.8959,15.65,Q92911_G93R,G,R,93,GR,G93R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.985,-3.744,2.759,,,,,,1.687,,53.34,0.00259077,0,0.0883504,0.815938
4317,Q92911,G,R,395,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,0,0,0,,,,,,10187,13014,ENSG00000105641,ENST00000222248,CCDS12368.1,SLC5A5,0.61,probably_damaging,1,deleterious,0,3.99914,20.5,Q92911_G395R,G,R,395,GR,G395R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.000728804,0,0.0248537,0.78896
4325,O75462,P,L,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,7965,5659,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,0.33,probably_damaging,0.991,deleterious,0,3.60426,18.35,O75462_P138L,P,L,138,PL,P138L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.665,-3.672,3.007,,,,,,2.68,,16.11,0.00103449,0,0.0352782,0.727476
4326,O75462,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.64,0.11,,,,,,,,,7287,6337,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,,,,,,3.03793,16.14,O75462_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4331,P49747,D,Y,439,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.17,,,,,,,,,995,79,ENSG00000105664,ENST00000542601,,COMP,0.61,probably_damaging,1,deleterious,0.01,4.25449,22.2,P49747_D439Y,D,Y,439,DY,D439Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.057,-4.164,3.107,0.006,S,A,0.96,0.25,,,,0.000401684,0,0.0136983,0.661205
4332,P49747,C,Y,435,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,984,68,ENSG00000105664,ENST00000542601,,COMP,0.6,probably_damaging,0.997,deleterious,0,4.14639,21.4,P49747_C435Y,C,Y,435,CY,C435Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.000469149,0,0.0159989,0.968699
4340,O14593,D,V,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,290,127,ENSG00000064490,ENST00000407360,,RFXANK,0.46,probably_damaging,1,deleterious,0,3.71769,18.88,O14593_D120V,D,V,120,DV,D120V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,,,,,,,,,,,,0.00720579,0,0.245732,0.919198
4346,P82251,G,R,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,611,319,ENSG00000021488,ENST00000023064,CCDS12425.1,SLC7A9,0.4,probably_damaging,1,deleterious,0,4.49085,24.1,P82251_G195R,G,R,195,GR,G195R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.00063577,0,0.0216811,0.78896
4438,P18074,A,P,675,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,6826,623,ENSG00000104884,ENST00000391941,,ERCC2,0.95,probably_damaging,0.942,deleterious,0,4.95606,28.9,P18074_A675P,A,P,675,AP,A675P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.00183,0,0.0624069,0.985434
4442,P18074,D,N,631,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,0,0,0,,,,,,7111,908,ENSG00000104884,ENST00000391941,,ERCC2,0.89,probably_damaging,1,deleterious,0,4.53847,24.5,P18074_D631N,D,N,631,DN,D631N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.00202941,0,0.0692072,0.983886
4447,P07992,Q,X,158,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,,,,,,,,,4412,5716,ENSG00000012061,ENST00000300853,CCDS12662.1,ERCC1,0.53,,,,,5.98893,37,P07992_Q158X,Q,X,158,QX,Q158X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00869345,0,0.296465,0.915713
4457,Q9H9S5,V,L,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,10617,1913,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.82,possibly_damaging,0.793,deleterious,0.01,4.51235,24.3,Q9H9S5_V405L,V,L,405,VL,V405L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.113,-2.5,1.387,,,,,,,,,0.00263069,0,0.0897121,0.902622
4458,Q9H9S5,P,L,448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,10747,1783,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.91,probably_damaging,0.988,deleterious,0,4.77392,26.8,Q9H9S5_P448L,P,L,448,PL,P448L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.00227894,0,0.0777166,0.792295
4465,O43186,R,W,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,4891,3989,ENSG00000105392,ENST00000539067,CCDS12706.1,CRX,0.3,probably_damaging,0.975,deleterious,0,3.34287,17.25,O43186_R90W,R,W,90,RW,R90W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.529,-5.053,3.524,,,,,,0.16,,24.08,0.00130451,0,0.0444866,0.783874
4476,P01229,G,D,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,528,583,ENSG00000104826,ENST00000221421,CCDS12748.1,LHB,0.4,probably_damaging,1,deleterious,0,3.33839,17.24,P01229_G56D,G,D,56,GD,G56D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.621,-2.837,2.216,0.057,E,b,0.46,-0.08,7.034,7.034,25.53,0.00285545,0,0.0973767,0.618463
4493,P38117,R,Q,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,0.001,,,,0.001,7837,1850,ENSG00000105379,ENST00000354232,CCDS33085.1,ETFB,0.74,probably_damaging,0.93,deleterious,0.03,5.09053,31,P38117_R255Q,R,Q,255,RQ,R255Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
4513,P19429,K,E,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,3686,2277,ENSG00000129991,ENST00000344887,CCDS42628.1,TNNI3,0.85,benign,0.221,deleterious,0.01,3.53242,18.03,P19429_K178E,K,E,178,KE,K178E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.325,-2.889,1.564,0.761,H,A,1.3,0.24,2.663,,53.81,0.00805225,0.03125,0.274598,0.805656
4566,Q9HC10,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.64,0.11,,,,,,,,,17192,3647,ENSG00000115155,ENST00000403946,,OTOF,,,,,,4.49643,24.1,Q9HC10_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4580,P50053,G,R,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,0,0,0,,,,,,5563,7112,ENSG00000138030,ENST00000429697,,KHK,0.14,probably_damaging,0.994,deleterious,0,4.49655,24.1,P50053_G40R,G,R,40,GR,G40R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,0.034,E,b,0.91,-0.88,,,,0.00170403,0,0.0581108,0.519074
4797,Q06710,S,F,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,10533,5251,ENSG00000125618,ENST00000263334,CCDS46399.1,PAX8,0.12,probably_damaging,1,deleterious,0,5.05385,30,Q06710_S48F,S,F,48,SF,S48F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-0.927,-4.006,3.079,0.2,H,A,0.85,-0.68,,,,0.000301395,0,0.0102782,0.625964
4798,Q06710,Q,P,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,10557,5275,ENSG00000125618,ENST00000263334,CCDS46399.1,PAX8,0.1,probably_damaging,0.945,deleterious,0,3.90337,19.85,Q06710_Q40P,Q,P,40,QP,Q40P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-0.999,-3.593,2.594,0.608,H,A,0.12,0.56,,,,0.000353573,0,0.0120576,0.801066
4799,Q06710,R,H,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,10584,5302,ENSG00000125618,ENST00000263334,CCDS46399.1,PAX8,0.08,probably_damaging,0.998,deleterious,0,5.14029,32,Q06710_R31H,R,H,31,RH,R31H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.953,-4.169,3.216,0.325,H,A,1.03,-0.32,,,,0.000691261,0,0.0235734,0.728765
4804,O00499,K,X,488,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.11,,,,,,,,,7907,547,ENSG00000136717,ENST00000351659,CCDS2140.1,BIN1,0.96,,,,,8.6638,41,O00499_K488X,K,X,488,KX,K488X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00199282,0,0.0679592,0.963541
4818,P04070,L,F,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.01,,,,,,,,,3930,693,ENSG00000115718,ENST00000409048,,PROC,0.6,possibly_damaging,0.892,deleterious,0.02,4.27705,22.3,P04070_L299F,L,F,299,LF,L299F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,,,,,,,,,,,,0.000633203,0,0.0215935,1.00597
4819,P04070,R,C,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,5085,573,ENSG00000115718,ENST00000402125,,PROC,0.2,probably_damaging,0.994,deleterious,0.01,2.99409,15.98,P04070_R47C,R,C,47,RC,R47C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00252974,0,0.0862694,0.938419
4821,P04070,A,V,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,5173,485,ENSG00000115718,ENST00000402125,,PROC,0.32,probably_damaging,0.991,deleterious,0.01,3.91604,19.92,P04070_A76V,A,V,76,AV,A76V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00280756,0,0.0957434,0.966032
4822,P04070,A,T,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,5196,462,ENSG00000115718,ENST00000402125,,PROC,0.36,benign,0.194,tolerated,0.08,1.43713,10.75,P04070_A84T,A,T,84,AT,A84T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00246931,0,0.0842085,0.977688
5029,Q9Y276,R,C,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,56,98,ENSG00000074582,ENST00000423377,,BCS1L,0.41,probably_damaging,1,deleterious,0,3.77997,19.19,Q9Y276_R45C,R,C,45,RC,R45C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.00312182,0.0026738,0.10646,0.744467
5046,Q02318,R,G,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,32542,573,ENSG00000135929,ENST00000258415,CCDS2423.1,CYP27A1,0.9,possibly_damaging,0.832,deleterious,0,4.05565,20.8,Q02318_R479G,R,G,479,RG,R479G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.192,-3.315,2.123,,,,,,1.412,,56.5,0.00425445,0,0.145086,0.847099
5047,Q02318,R,C,479,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,0,0,0,,,,,,32542,573,ENSG00000135929,ENST00000258415,CCDS2423.1,CYP27A1,0.9,probably_damaging,0.999,deleterious,0,4.08313,21,Q02318_R479C,R,C,479,RC,R479C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.192,-4.9,3.708,,,,,,1.054,,56.5,0.00425445,0,0.145086,0.795434
5054,Q14623,E,K,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,2849,3195,ENSG00000163501,ENST00000295731,CCDS33380.1,IHH,0.32,probably_damaging,1,deleterious,0,6.16784,37,Q14623_E131K,E,K,131,EK,E131K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,0.08,E,b,1.3,-0.56,,,,0.00186967,0,0.0637598,0.627779
5069,P17661,N,I,393,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,1372,2327,ENSG00000175084,ENST00000373960,CCDS33383.1,DES,0.84,probably_damaging,0.994,deleterious,0,4.32264,22.7,P17661_N393I,N,I,393,NI,N393I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.461,-3.425,1.964,,,,,,8.243,,82.13,0.00199546,0,0.0680493,0.892787
5119,P22309,L,R,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,43,6829,ENSG00000241635,ENST00000360418,,UGT1A1,0.03,probably_damaging,0.976,deleterious,0,2.68195,14.93,P22309_L15R,L,R,15,LR,L15R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.215,-2.489,1.274,,,,,,7.229,7.229,60.98,0.000244224,0,0.00832852,0.93837
5134,P21549,R,C,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,125,4498,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.09,probably_damaging,1,deleterious,0,2.14325,13.12,P21549_R36C,R,C,36,RC,R36C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.42,-5.32,3.9,0.278,H,A,1.66,0.23,0.978,,76.53,0.00385056,0,0.131312,0.708375
5135,P21549,R,H,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,0,0,0,,,,,,126,4497,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.09,probably_damaging,0.999,deleterious,0,2.39107,13.95,P21549_R36H,R,H,36,RH,R36H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.42,-4.707,3.287,0.278,H,A,1.03,0.23,1.585,,76.53,0.00385056,0,0.131312,0.750929
5140,P21549,Q,X,44,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.05,,,,,,,,,149,4474,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.11,,,,,5.29531,34,P21549_Q44X,Q,X,44,QX,Q44X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00323032,0,0.110161,0.955443
5141,P21549,G,R,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,158,4465,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.12,probably_damaging,0.999,deleterious,0,1.7981,11.97,P21549_G47R,G,R,47,GR,G47R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.739,-4.061,3.322,,.,B,0.91,-0.83,3.162,,79.85,0.00154208,0,0.0525883,0.558894
5150,P21549,E,K,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,441,4182,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.24,probably_damaging,0.998,deleterious,0,4.45123,23.7,P21549_E95K,E,K,95,EK,E95K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.079,-3.459,2.38,0.214,.,B,1.3,0.48,3.297,,50.51,0.00146475,0,0.049951,0.689734
5159,P21549,E,X,117,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.05,,,,,,,,,507,4116,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.3,,,,,6.5063,37,P21549_E117X,E,X,117,EX,E117X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00472367,0,0.161087,0.939415
5180,P21549,S,F,187,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,1825,455,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.48,probably_damaging,0.994,deleterious,0,2.98002,15.94,P21549_S187F,S,F,187,SF,S187F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.188,-4.412,3.224,,T,A,0.85,-0.93,2.322,,85.46,0.00277206,0,0.0945329,0.562763
5183,P21549,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.64,0.09,,,,,,,,,2787,508,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,,,,,,1.14642,9.67,P21549_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5184,P21549,D,E,201,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,0,0,0,,,,,,2796,517,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.51,probably_damaging,0.993,deleterious,0,1.93391,12.42,P21549_D201E,D,E,201,DE,D201E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-0.878,-3.121,2.243,0.037,S,A,0.29,0.53,5.296,,40.56,0.00149872,0,0.0511095,0.71264
5252,P01185,Y,H,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,111,2058,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.13,probably_damaging,0.992,deleterious,0,4.97289,29,P01185_Y21H,Y,H,21,YH,Y21H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-0.99,-3.655,2.665,,,,,,,,,0.00867623,0.00699301,0.295877,0.753623
5340,P43026,R,X,301,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.12,,,,,,,,,1485,937,ENSG00000125965,ENST00000374372,CCDS13254.1,GDF5,0.6,possibly_damaging,0.448,,,7.6848,39,P43026_R301X,R,X,301,RX,R301X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00255657,0,0.0871844,0.959768
5351,P41235,R,X,163,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,,,,,,,,,12511,10845,ENSG00000101076,ENST00000443598,CCDS13331.1,HNF4A,0.39,,,,,6.13549,37,P41235_R163X,R,X,163,RX,R163X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00248968,0,0.0849033,0.959768
5412,O43526,R,Q,581,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,59168,492,ENSG00000075043,ENST00000359689,,KCNQ2,0.67,probably_damaging,0.999,deleterious,0,5.49862,35,O43526_R581Q,R,Q,581,RQ,R581Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.893,-2.643,1.75,,,,,,0.834,0.834,3.9,0.000354145,0,0.0120771,0.884904
5417,O43526,R,X,448,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.12,,,,,,,,,57553,2107,ENSG00000075043,ENST00000359689,,KCNQ2,0.51,,,,,7.69371,39,O43526_R448X,R,X,448,RX,R448X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0019237,0,0.0656022,0.959275
5419,O43526,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.64,0.07,,,,,,,,,44274,4341,ENSG00000075043,ENST00000359689,,KCNQ2,,,,,,1.87209,12.22,O43526_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5435,O43526,R,W,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,27927,11033,ENSG00000075043,ENST00000359689,,KCNQ2,0.24,probably_damaging,0.999,deleterious,0,4.35427,22.9,O43526_R213W,R,W,213,RW,R213W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.897,-5.349,4.452,,,,,,0.404,,71.9,0.000194384,0,0.0066289,0.899747
5440,O43526,A,V,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,27877,11083,ENSG00000075043,ENST00000359689,,KCNQ2,0.22,probably_damaging,1,deleterious,0.02,4.59471,25,O43526_A196V,A,V,196,AV,A196V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.142,-2.295,1.153,,,,,,11.455,11.455,71.9,0.000625198,0,0.0213205,1.06261
5466,P00441,A,T,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,73,6189,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.03,probably_damaging,0.972,deleterious,0,4.35403,22.9,P00441_A5T,A,T,5,AT,A5T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.368,-2.104,0.736,0.01,E,B,0.22,-0.34,16.447,16.447,66.88,0.00392265,0.0134228,0.13377,0.889114
5467,P00441,A,V,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,74,6190,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.03,probably_damaging,0.982,deleterious,0,4.32751,22.7,P00441_A5V,A,V,5,AV,A5V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.368,-2.093,0.725,0.01,E,B,0.44,-0.34,17.133,17.133,66.88,0.00392265,0.0134228,0.13377,0.876618
5469,P00441,G,R,13,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,97,6213,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.08,possibly_damaging,0.868,deleterious,0.03,2.71636,15.04,P00441_G13R,G,R,13,GR,G13R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.293,-3.769,2.476,0.425,S,b,0.91,0.45,3.625,,91.56,0.00965339,0,0.329201,0.776278
5530,P35520,A,V,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,0,0,0,,,,,,2052,110,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.21,probably_damaging,0.928,deleterious,0.01,5.62823,36,P35520_A114V,A,V,114,AV,A114V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.088,-2.856,1.768,0.097,T,A,0.44,-1.21,,,,0.00292549,0,0.0997651,0.69857
5548,P05107,P,L,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,8931,149,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.23,probably_damaging,1,deleterious,0,3.67061,18.65,P05107_P178L,P,L,178,PL,P178L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.059,-3.433,2.374,0.023,T,a,1.07,-0.29,2.841,,66.97,0.000337475,0,0.0115086,0.627169
5552,P39060,D,N,1675,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,0.071,0.036,0.088,0.05,0.03,0.07,0.02,0.09,5176,1069,ENSG00000182871,ENST00000359759,,COL18A1,0.95,possibly_damaging,0.777,deleterious,0,4.1624,21.5,P39060_D1675N,D,N,1675,DN,D1675N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.079,-3.232,2.153,,,,,,0.264,,12.14,,,,0.810866
5560,P12110,Q,X,819,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.04,,,,,,,,,5975,641,ENSG00000142173,ENST00000397763,CCDS13729.1,COL6A2,0.89,,,,,7.17547,38,P12110_Q819X,Q,X,819,QX,Q819X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00173924,0.005,0.0593116,0.916244
5613,O95461,E,K,308,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,79794,30214,ENSG00000133424,ENST00000452586,,LARGE,0.55,probably_damaging,0.995,deleterious,0,4.51826,24.3,O95461_E308K,E,K,308,EK,E308K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
5622,Q8IU80,R,X,590,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.08,,,,,,,,,33097,5118,ENSG00000187045,ENST00000406725,,TMPRSS6,0.74,,,,,7.46761,39,Q8IU80_R590X,R,X,590,RX,R590X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5627,Q8IU80,Y,X,346,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.08,,,,0.001,,0.01,,,51,835,ENSG00000187045,ENST00000406725,,TMPRSS6,0.43,,,,,5.98412,37,Q8IU80_Y346X,Y,X,346,YX,Y346X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
5636,Q9H2D6,R,X,1117,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,,,,,,,,,28284,666,ENSG00000100106,ENST00000406386,CCDS43015.1,TRIOBP,0.47,,,,,8.72053,41,Q9H2D6_R1117X,R,X,1117,RX,R1117X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5662,P17050,S,C,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,0,0,0.001,0.001,,,,0.003,111,7334,ENSG00000198951,ENST00000396398,CCDS14030.1,NAGA,0.39,probably_damaging,0.97,tolerated,0.12,2.88191,15.6,P17050_S160C,S,C,160,SC,S160C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.146,-4.454,3.308,0.184,.,B,0.73,0.49,,,,0.00434455,0,0.148158,0.650575
5680,O75631,P,L,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,0.002,0,0.002,0.001,,,,0.001,10682,150,ENSG00000100373,ENST00000396082,CCDS54539.1,UPK3A,0.92,probably_damaging,0.995,tolerated,0.09,1.67021,11.54,O75631_P152L,P,L,152,PL,P152L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
5688,Q9BV10,F,V,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,391,6518,ENSG00000182858,ENST00000330817,CCDS14081.1,ALG12,0.29,probably_damaging,0.998,deleterious,0,4.68778,25.9,Q9BV10_F142V,F,V,142,FV,F142V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.149,-3.121,1.972,,,,,,,,,0.00263222,0,0.0897642,0.820295
5715,P15289,T,I,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,2710,413,ENSG00000100299,ENST00000547805,,ARSA,0.8,benign,0.074,deleterious,0.04,1.43731,10.75,P15289_T408I,T,I,408,TI,T408I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.444,-3.312,1.868,0.518,T,l,0.7,-0.64,7.423,,73.96,0.00451349,0.010101,0.153919,0.85684
5719,P15289,R,Q,370,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,2482,641,ENSG00000100299,ENST00000547805,,ARSA,0.73,probably_damaging,0.999,deleterious,0.01,5.4582,35,P15289_R370Q,R,Q,370,RQ,R370Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.336,-3.447,2.111,0.09,.,B,0.56,-0.32,1.115,,63.91,0.00319328,0,0.108897,0.662505
5720,P15289,R,W,370,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,2481,642,ENSG00000100299,ENST00000547805,,ARSA,0.73,probably_damaging,1,deleterious,0,4.0683,20.9,P15289_R370W,R,W,370,RW,R370W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.336,-2.375,1.039,0.09,.,B,1.67,-0.32,31.732,31.732,63.91,0.00319328,0,0.108897,0.712409
5723,P15289,G,S,309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,1954,390,ENSG00000100299,ENST00000547805,,ARSA,0.61,probably_damaging,1,deleterious,0,5.47316,35,P15289_G309S,G,S,309,GS,G309S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,,H,A,0.02,-0.65,,,,0.00120908,0,0.041232,0.660453
5724,P15289,C,F,300,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,1928,364,ENSG00000100299,ENST00000547805,,ARSA,0.59,probably_damaging,1,tolerated,0.06,3.61407,18.39,P15289_C300F,C,F,300,CF,C300F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.194,-3.884,2.69,0.086,.,P,0.12,-0.93,,,,0.00250604,0,0.085461,0.593629
5782,P56539,S,R,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,794,923,ENSG00000182533,ENST00000397368,CCDS2569.1,CAV3,0.93,probably_damaging,0.968,deleterious,0,3.7375,18.98,P56539_S141R,S,R,141,SR,S141R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.31,-3.333,2.023,,,,,,12.531,12.531,92.72,0.0297541,0,1.01468,0.865333
5929,Q14524,H,R,558,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,0.246,0.275,0.232,0.21,0.11,0.21,0.3,0.22,29388,53608,ENSG00000183873,ENST00000449557,,SCN5A,0.28,benign,0.001,tolerated,1,-0.945829,0.349,Q14524_H558R,H,R,558,HR,H558R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-2.283,-1.426,-0.857,,,,,,32.247,32.247,93.73,,,,1.01724
5968,Q02388,R,X,2471,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.09,,,,,,,,,138,546,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.84,,,,,12.8316,46,Q02388_R2471X,R,X,2471,RX,R2471X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5971,Q02388,R,W,2063,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,9285,11163,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.7,,,,,1.60394,11.32,Q02388_R2063W,R,W,2063,RW,R2063W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.577,-2.431,0.854,,,,,,26.514,26.514,53.4,,,,0.892142
5984,Q9BU61,G,R,20,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.2,,,,,,,,,204,680,ENSG00000178057,ENST00000395458,CCDS2785.1,NDUFAF3,0.16,probably_damaging,0.999,deleterious,0,5.15966,32,Q9BU61_G20R,G,R,20,GR,G20R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00239389,0,0.0816365,0.954089
5996,P48728,G,R,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,211,482,ENSG00000145020,ENST00000427987,,AMT,0.12,probably_damaging,0.945,deleterious,0,5.55852,35,P48728_G45R,G,R,45,GR,G45R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00429672,0,0.146527,0.937481
6000,#N/A,R,W,298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,0,0,0,,,,,,783,69,ENSG00000114786,ENST00000463937,,ABHD14A-ACY1,0.59,possibly_damaging,0.878,deleterious,0.01,3.92008,19.94,#N/A_R298W,R,W,298,RW,R298W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
6175,P08100,A,E,164,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,2365,4165,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.47,probably_damaging,0.954,deleterious,0,5.07468,31,P08100_A164E,A,E,164,AE,A164E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.175,-3.175,2,,H,A,1.04,-0.3,,,,0.00197709,0,0.0674228,0.622524
6176,P08100,P,S,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,2385,4145,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.49,probably_damaging,1,deleterious,0,3.3552,17.3,P08100_P171S,P,S,171,PS,P171S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.115,-3.121,2.006,0.06,H,A,0.25,-0.6,,,,0.000266758,0,0.00909699,0.688532
6191,P08100,P,S,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,5070,1460,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,1,benign,0.001,deleterious,0,4.00071,20.5,P08100_P347S,P,S,347,PS,P347S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.115,-3.121,2.006,0.774,.,A,0.25,2.45,,,,0.219561,1,7.48748,0.785411
6192,P08100,P,Q,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,5071,1459,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,1,benign,0.197,deleterious,0,4.10671,21.2,P08100_P347Q,P,Q,347,PQ,P347Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.115,-3.635,2.52,0.774,.,A,0.12,2.45,,,,0.219561,1,7.48748,0.749638
6193,P08100,P,R,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,5071,1459,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,1,benign,0.287,deleterious,0,4.02752,20.7,P08100_P347R,P,R,347,PR,P347R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.115,-3.668,2.553,0.774,.,A,0.68,2.45,,,,0.219561,1,7.48748,0.733733
6194,P08100,P,L,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,5071,1459,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,1,benign,0.094,deleterious,0,4.19563,21.8,P08100_P347L,P,L,347,PL,P347L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,0.774,.,A,1.07,2.45,,,,0.219561,1,7.48748,0.743057
6287,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.64,0.19,,,,,,,,,34,471,,ENSR00001378964,,,,,,,,-0.274994,2.683,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6302,P48431,R,P,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.21,,,,,,,,,647,734,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.23,probably_damaging,0.979,deleterious,0,3.40737,17.51,P48431_R74P,R,P,74,RP,R74P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.572,-3.76,2.188,,,,,,1.071,,73.19,0.00122133,0,0.0416498,0.848917
6372,Q9H3D4,G,D,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,18664,55804,ENSG00000073282,ENST00000392461,,TP63,0.19,probably_damaging,0.999,deleterious,0,5.41228,34,Q9H3D4_G79D,G,D,79,GD,G79D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.000930639,0,0.0317367,0.978147
6445,P78314,P,H,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,1785,1467,ENSG00000087266,ENST00000503393,CCDS54716.1,SH3BP2,0.77,probably_damaging,0.999,deleterious,0,3.59204,18.29,P78314_P475H,P,H,475,PH,P475H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,,,,,,,,,,,,,,,0.949385
6446,P78314,P,R,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,1785,1467,ENSG00000087266,ENST00000503393,CCDS54716.1,SH3BP2,0.77,probably_damaging,0.999,deleterious,0,3.47928,17.8,P78314_P475R,P,R,475,PR,P475R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,,,,0.946563
6447,P78314,P,L,475,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,1785,1467,ENSG00000087266,ENST00000503393,CCDS54716.1,SH3BP2,0.77,probably_damaging,0.999,deleterious,0.01,3.8469,19.54,P78314_P475L,P,L,475,PL,P475L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
6448,P78314,G,E,477,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,1791,1461,ENSG00000087266,ENST00000503393,CCDS54716.1,SH3BP2,0.77,probably_damaging,0.999,deleterious,0,4.68802,25.9,P78314_G477E,G,E,477,GE,G477E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,,,,0.947149
6455,P28360,Q,X,193,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.23,,,,,,,,,380,221,ENSG00000163132,ENST00000382723,CCDS3378.2,MSX1,0.64,,,,,7.88596,39,P28360_Q193X,Q,X,193,QX,Q193X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00263191,0,0.0897536,0.955443
6471,O76024,A,T,716,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.2,,,,,,,,,13454,943,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.8,probably_damaging,0.949,tolerated,0.2,2.55043,14.49,O76024_A716T,A,T,716,AT,A716T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.391,-3.179,1.788,,,,,,1.962,,55.96,0.00174979,0,0.0596714,0.936984
6472,O76024,P,L,724,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.2,,,,,,,,,13479,918,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.81,probably_damaging,0.999,deleterious,0,4.26249,22.2,O76024_P724L,P,L,724,PL,P724L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.0024367,0,0.0830966,0.792295
6475,O76024,G,D,831,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,0,0,0,,,,,,13800,597,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.93,probably_damaging,0.999,deleterious,0.02,4.0503,20.8,O76024_G831D,G,D,831,GD,G831D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.985,-3.279,2.294,,,,,,2.989,,61.01,0.00538085,0,0.183498,0.825591
6484,P09417,Y,C,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,181,1889,ENSG00000151552,ENST00000281243,CCDS3421.1,QDPR,0.61,probably_damaging,0.998,deleterious,0,3.51705,17.96,P09417_Y150C,Y,C,150,YC,Y150C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.181,-4.639,3.458,0.182,H,A,0.25,-0.21,,,,0.00340606,0,0.116154,0.61276
6629,Q16134,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.64,0.13,,,,,,,,,53,3533,ENSG00000171503,ENST00000307738,,ETFDH,0,,,deleterious,0,1.77878,11.91,Q16134_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-2.009,-1.889,-0.12,,,,,,22.359,22.359,90.92,0.000483745,0,0.0164967,1.02167
6881,O14949,S,F,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.21,0,0,0,,,,,,131,328,ENSG00000164405,ENST00000378667,CCDS34237.1,UQCRQ,0.55,possibly_damaging,0.671,deleterious,0.01,2.21009,13.35,O14949_S45F,S,F,45,SF,S45F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.791,-4.181,2.39,,,,,,1.701,,81.71,0.027167,0.027027,0.926451,0.829938
6905,Q9UH77,S,N,351,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,35611,23,ENSG00000146021,ENST00000506491,,KLHL3,0.7,probably_damaging,1,tolerated,0.73,3.65681,18.59,Q9UH77_S351N,S,N,351,SN,S351N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,0.00191641,0,0.0653536,0.978191
6907,Q9UH77,R,Q,349,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,0,0,0,,,,,,35605,29,ENSG00000146021,ENST00000506491,,KLHL3,0.69,probably_damaging,1,deleterious,0,6.16622,37,Q9UH77_R349Q,R,Q,349,RQ,R349Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00237011,0,0.0808257,0.977843
6927,Q9H173,L,P,464,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,6301,110,ENSG00000120725,ENST00000509534,,SIL1,0.99,possibly_damaging,0.728,deleterious,0.04,3.58763,18.27,Q9H173_L464P,L,P,464,LP,L464P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
6928,Q9H173,Q,X,445,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.04,,,,,,,,,6243,168,ENSG00000120725,ENST00000509534,,SIL1,0.95,,,,,3.48337,17.82,Q9H173_Q445X,Q,X,445,QX,Q445X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6990,Q12951,G,E,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,0,0,0,,,,,,2334,1157,ENSG00000168269,ENST00000306268,CCDS4372.1,FOXI1,0.68,benign,0.013,tolerated,1,-1.70167,0.011,Q12951_G258E,G,E,258,GE,G258E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-3.135,-1.568,-1.567,,,,,,15.01,15.01,50.53,0.00487228,0,0.166155,0.994592
6997,P52952,T,M,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,2196,116,ENSG00000183072,ENST00000329198,CCDS4387.1,NKX2-5,0.55,probably_damaging,0.997,deleterious,0,4.14758,21.4,P52952_T178M,T,M,178,TM,T178M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.204,-4.35,3.146,,,,,,0.909,,60.8,0.00059132,0,0.0201652,0.855405
7027,Q9NX24,X,R,154,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.64,0.05,,,,,,,,,3865,233,ENSG00000145912,ENST00000274606,CCDS4432.1,NHP2,1,,,,,1.5053,10.98,Q9NX24_X154R,X,R,154,XR,X154R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,,,,0.934274
7028,Q9NX24,Y,H,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,3820,232,ENSG00000145912,ENST00000274606,CCDS4432.1,NHP2,0.91,probably_damaging,0.986,deleterious,0,4.63919,25.4,Q9NX24_Y139H,Y,H,139,YH,Y139H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.181,-3.557,2.376,,,,,,,,,0.0198476,0.0714286,0.676845,0.77877
7032,O15303,R,X,621,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.16,0,0,0,,,,,,141,51,ENSG00000113262,ENST00000231188,CCDS4442.1,GRM6,0.71,,,,,7.86114,39,O15303_R621X,R,X,621,RX,R621X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000221951,0,0.00756898,0.977351
7034,O15303,I,T,405,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,0,0,0,,,,,,103,1042,ENSG00000113262,ENST00000231188,CCDS4442.1,GRM6,0.46,probably_damaging,0.966,deleterious,0,3.23499,16.84,O15303_I405T,I,T,405,IT,I405T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.497,-3.152,1.655,,,,,,2.573,,51.54,0.000963405,0,0.0328541,0.944886
7049,Q12948,S,T,82,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,244,3203,ENSG00000054598,ENST00000380874,CCDS4473.1,FOXC1,0.15,probably_damaging,0.999,deleterious,0,3.57924,18.24,Q12948_S82T,S,T,82,ST,S82T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.239,-2.748,1.509,,,,,,,,,0.000539244,0,0.0183893,0.920316
7094,Q6VVB1,R,X,265,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.11,,,,,,,,,807,1327,ENSG00000187566,ENST00000340650,CCDS4542.1,NHLRC1,0.67,,,,,2.11865,13.04,Q6VVB1_R265X,R,X,265,RX,R265X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00232783,0,0.0793839,0.959768
7120,P13942,G,E,1381,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,11158,4041,ENSG00000204248,ENST00000395197,,COL11A2,0.82,probably_damaging,0.999,deleterious,0,4.22778,22,P13942_G1381E,G,E,1381,GE,G1381E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,,,,,,,,,0.000571639,0,0.0194941,0.806888
7131,O00294,R,P,420,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,514,129,ENSG00000112041,ENST00000229771,CCDS4807.1,TULP1,0.77,probably_damaging,0.993,deleterious,0,4.21893,21.9,O00294_R420P,R,P,420,RP,R420P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.599,-2.832,1.233,0.333,E,B,0.68,0.45,28.205,28.205,38.01,0.00179593,0,0.0612451,0.801374
7138,Q9NZC2,D,G,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,3304,1364,ENSG00000095970,ENST00000373122,,TREM2,0.61,possibly_damaging,0.768,tolerated,0.09,1.54066,11.1,Q9NZC2_D134G,D,G,134,DG,D134G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.423,-3.148,1.725,,,,,,2.951,,72.61,0.00786978,0,0.268376,0.918587
7142,Q9NZC2,Q,X,33,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,0,0,0,,,,,,1620,3048,ENSG00000095970,ENST00000373122,,TREM2,0.15,,,,,2.14402,13.13,Q9NZC2_Q33X,Q,X,33,QX,Q33X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00673203,0,0.229576,0.927707
7146,P23942,W,X,316,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.09,,,,,,,,,24186,1787,ENSG00000112619,ENST00000230381,CCDS4871.1,PRPH2,0.91,,,,,6.52411,37,P23942_W316X,W,X,316,WX,W316X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0151592,0.0333333,0.516961,0.904444
7161,Q14999,R,X,1529,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.05,0,0,0,0.001,,,0.002,,14751,1329,ENSG00000044090,ENST00000535468,CCDS55003.1,CUL7,0.86,,,,,11.3985,45,Q14999_R1529X,R,X,1529,RX,R1529X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7290,O75558,Q,X,268,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.17,,,,,,,,,36903,942,ENSG00000135604,ENST00000367568,CCDS5205.1,STX11,0.93,,,,,5.77463,36,O75558_Q268X,Q,X,268,QX,Q268X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7331,P60709,R,W,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,350,57,ENSG00000075624,ENST00000331789,CCDS5341.1,ACTB,0.49,benign,0.002,,,2.03842,12.77,P60709_R183W,R,W,183,RW,R183W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.984,-5.104,3.12,0.077,H,A,1.67,0,0.542,,84.27,0.000252662,0,0.00861629,0.654043
7367,Q02643,F,C,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,2081,27,ENSG00000106128,ENST00000409904,,GHRHR,0.5,probably_damaging,0.993,deleterious,0,4.38588,23.2,Q02643_F178C,F,C,178,FC,F178C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,,,,,,,,,,,,0.00218957,0,0.0746687,0.93997
7405,P15259,G,D,97,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,0.004,0.01,,,,235,840,ENSG00000164708,ENST00000297283,CCDS34624.1,PGAM2,0.38,possibly_damaging,0.597,deleterious,0.02,5.06489,31,P15259_G97D,G,D,97,GD,G97D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.008,-3.15,2.142,0.08,T,l,0.46,-0.19,,,,0.000704518,0,0.0240255,0.602066
7415,P35557,L,H,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,394,894,ENSG00000106633,ENST00000403799,CCDS5479.1,GCK,0.68,probably_damaging,0.911,deleterious,0,4.12411,21.3,P35557_L315H,L,H,315,LH,L315H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.318,-4.716,3.398,,S,B,0.72,-0.45,0.666,,77.85,0.00189853,0,0.0647438,0.630986
7418,P35557,E,X,265,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.16,,,,,,,,,595,2076,ENSG00000106633,ENST00000403799,CCDS5479.1,GCK,0.57,,,,,10.2968,43,P35557_E265X,E,X,265,EX,E265X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00239631,0,0.081719,0.961863
7425,P35557,R,X,169,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,,,,,,,,,9284,4860,ENSG00000106633,ENST00000437084,,GCK,0.38,,,,,4.91315,28.4,P35557_R169X,R,X,169,RX,R169X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000746617,0,0.0254612,0.977351
7455,#N/A,Q,R,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,25,65,ENSG00000249319,ENST00000450043,,AC068533.7,0.19,probably_damaging,0.992,deleterious,0,4.8858,28,#N/A_Q55R,Q,R,55,QR,Q55R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,,,,0.956783
7464,P15502,K,X,176,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.04,,,,,,,,,486,5,ENSG00000049540,ENST00000380562,,ELN,0.24,,,,,2.90365,15.68,P15502_K176X,K,X,176,KX,K176X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,,,,0.934564
7531,Q9UP52,L,R,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,624,626,ENSG00000106327,ENST00000544242,,TFR2,0.09,probably_damaging,0.999,deleterious,0,4.39523,23.3,Q9UP52_L31R,L,R,31,LR,L31R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.000244829,0,0.00834917,0.979832
7537,Q9UP52,V,I,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,0.001,,0.003,,,317,1395,ENSG00000106327,ENST00000462107,CCDS34707.1,TFR2,0.03,benign,0.001,tolerated,1,-0.343438,2.375,Q9UP52_V22I,V,I,22,VI,V22I,Hydrophobic,Hydrophobic,5.61,6.02,0.41,117,131,14,140,166.7,26.7,29,-1.793,-1.302,-0.491,,,,,,24.339,24.339,89.64,0.000213,0,0.00726373,1.03715
7764,O15013,T,I,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.17,,,,,,,,,13,20837,ENSG00000104728,ENST00000522435,,ARHGEF10,0.01,probably_damaging,0.999,deleterious,0,3.51994,17.98,O15013_T5I,T,I,5,TI,T5I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,,,,,,,,,,,,,,,0.9508
7767,P43694,G,S,297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,41980,6870,ENSG00000136574,ENST00000532059,,GATA4,0.67,probably_damaging,1,deleterious,0,5.13102,32,P43694_G297S,G,S,297,GS,G297S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.000440756,0,0.0150307,0.993008
8014,P15538,P,L,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,675,5321,ENSG00000160882,ENST00000517471,CCDS34953.1,CYP11B1,0.22,probably_damaging,1,deleterious,0,2.59533,14.64,P15538_P94L,P,L,94,PL,P94L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.066,-2.218,1.152,,,,,,18.44,18.44,49.11,0.00155516,0,0.0530342,0.940509
8066,P07951,R,G,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,207,999,ENSG00000198467,ENST00000360958,CCDS6587.1,TPM2,0.32,benign,0.319,deleterious,0,3.92377,19.96,P07951_R91G,R,G,91,RG,R91G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.704,-3.135,1.431,,,,,0,3.128,,85.56,0.00130956,0,0.0446586,0.834889
8142,Q01974,W,X,580,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.13,,,,,,,,,162866,1732,ENSG00000169071,ENST00000375715,,ROR2,0.82,,,,,8.77214,41,Q01974_W580X,W,X,580,WX,W580X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000650458,0,0.022182,0.956807
8143,Q01974,Q,X,362,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.09,,,,,,,,,162210,2388,ENSG00000169071,ENST00000375715,,ROR2,0.51,,,,,8.13569,40,Q01974_Q362X,Q,X,362,QX,Q362X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000452101,0,0.0154176,0.98231
8243,Q13285,R,Q,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,302,258,ENSG00000136931,ENST00000455734,,NR5A1,0.52,possibly_damaging,0.838,deleterious,0,5.51362,35,Q13285_R92Q,R,Q,92,RQ,R92Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,0.893,.,B,0.56,0,,,,0.000823595,0,0.0280863,0.91355
8244,Q13285,G,S,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,298,262,ENSG00000136931,ENST00000455734,,NR5A1,0.51,probably_damaging,0.994,deleterious,0,5.30975,34,Q13285_G91S,G,S,91,GS,G91S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.082,-3.001,1.919,0.276,.,a,0.02,0,4.719,,86.77,0.000980724,0,0.0334447,0.924186
8254,O60663,N,K,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,79120,2863,ENSG00000136944,ENST00000425646,,LMX1B,0.66,probably_damaging,0.998,deleterious,0,4.18956,21.7,O60663_N246K,N,K,246,NK,N246K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,,,,,,,,,,,,,,,0.947543
8267,P00568,G,R,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,0,0,0,,,,,,66,67,ENSG00000106992,ENST00000373156,CCDS6881.1,AK1,0.21,probably_damaging,1,deleterious,0,5.05523,30,P00568_G40R,G,R,40,GR,G40R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.149,H,A,0.91,-0.42,,,,0.00234034,0,0.0798103,0.573707
8276,Q9UPQ8,Y,S,441,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.05,,,,,,,,,1638,452,ENSG00000175283,ENST00000372586,CCDS6915.1,DOLK,0.82,probably_damaging,0.978,deleterious,0,2.9322,15.77,Q9UPQ8_Y441S,Y,S,441,YS,Y441S,Hydrophobic,Polar,5.66,5.68,0.02,181,105,-76,193.6,89,-104.6,144,-1.181,-3.388,2.207,,,,,,,,,0.004333,0,0.147764,0.747776
8321,P20908,G,S,530,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,0.032,0.009,0.043,0.03,,0.06,0.002,0.04,109034,94033,ENSG00000130635,ENST00000371817,CCDS6982.1,COL5A1,0.29,,,tolerated,0.17,2.55017,14.49,P20908_G530S,G,S,530,GS,G530S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,,,,,0.00016752,0,0.00571278,0.859138
8450,Q96QS3,L,Q,343,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.19,,,,,,,,,2982,9273,ENSG00000004848,ENST00000379044,CCDS14215.1,ARX,0.61,probably_damaging,0.976,deleterious,0,2.96499,15.88,Q96QS3_L343Q,L,Q,343,LQ,L343Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.117,-3.901,2.784,,,,,,,,,0.00101016,0,0.0344485,0.7372
8451,Q96QS3,T,N,333,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,2952,9303,ENSG00000004848,ENST00000379044,CCDS14215.1,ARX,0.59,possibly_damaging,0.637,deleterious,0,3.33747,17.23,Q96QS3_T333N,T,N,333,TN,T333N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,-1.149,-3.225,2.076,,,,,,,,,0.00141085,0,0.048113,0.771977
8452,Q96QS3,R,H,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.17,,,,,,,,,2949,9306,ENSG00000004848,ENST00000379044,CCDS14215.1,ARX,0.59,possibly_damaging,0.675,deleterious,0,3.83314,19.47,Q96QS3_R332H,R,H,332,RH,R332H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.00164489,0,0.0560941,0.738301
8465,P51843,L,P,297,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.07,,,,,,,,,15,2653,ENSG00000169297,ENST00000453287,,NR0B1,0.74,probably_damaging,0.999,deleterious,0,3.01495,16.06,P51843_L297P,L,P,297,LP,L297P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.941,-3.98,3.039,,,,,,,,,0.00227236,0,0.0774923,0.7791
8466,P51843,W,C,291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,3,2670,ENSG00000169297,ENST00000453287,,NR0B1,0.73,probably_damaging,0.999,deleterious,0,2.67721,14.91,P51843_W291C,W,C,291,WC,W291C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.002,-4.737,3.735,,,,,,,,,0.0015827,0,0.0539734,0.678883
8467,P51843,Q,X,283,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.11,,,,,,,,,29,2696,ENSG00000169297,ENST00000453287,,NR0B1,0.71,,,,,5.32329,34,P51843_Q283X,Q,X,283,QX,Q283X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00249202,0,0.0849829,0.964034
8845,Q00604,C,W,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,,,,,,,,,181,231,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.72,probably_damaging,0.974,deleterious,0,3.6299,18.46,Q00604_C96W,C,W,96,CW,C96W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.412,-4.833,3.421,,,,,,,,,0.0082485,0,0.281291,0.723897
8883,P42768,R,X,34,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.12,,,,,,,,,125,2919,ENSG00000015285,ENST00000450772,,WAS,0.16,,,,,6.55215,37,P42768_R34X,R,X,34,RX,R34X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00185646,0,0.0633091,0.959275
8899,O60840,R,X,904,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.08,,,,,,,,,14802,13447,ENSG00000102001,ENST00000376251,,CACNA1F,0.47,,,,,8.7419,41,O60840_R904X,R,X,904,RX,R904X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000216649,0,0.00738818,0.977351
8903,Q9BZS1,R,W,422,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,3730,107,ENSG00000049768,ENST00000557224,,FOXP3,0.93,probably_damaging,0.988,deleterious,0,3.82806,19.44,Q9BZS1_R422W,R,W,422,RW,R422W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00950573,0,0.324165,0.92935
8904,Q9BZS1,A,T,409,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,3769,146,ENSG00000049768,ENST00000557224,,FOXP3,0.9,probably_damaging,0.971,deleterious,0,4.16802,21.6,Q9BZS1_A409T,A,T,409,AT,A409T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00879946,0,0.30008,0.936318
9011,P98172,W,G,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,888,12263,ENSG00000090776,ENST00000204961,CCDS14391.1,EFNB1,0.11,probably_damaging,0.947,deleterious,0,3.06999,16.25,P98172_W37G,W,G,37,WG,W37G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.301,-3.094,1.793,,,,,,,,,,,,0.79379
9012,P98172,W,X,37,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.11,,,,,,,,,889,12262,ENSG00000090776,ENST00000204961,CCDS14391.1,EFNB1,0.11,,,,,10.5252,43,P98172_W37X,W,X,37,WX,W37X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
9028,Q92838,P,L,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0,,,,,,,,,407552,5455,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.54,,,deleterious,0.02,3.69755,18.78,Q92838_P209L,P,L,209,PL,P209L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.115,-3.319,2.204,,,,,,,,,0.000794555,0,0.027096,0.825634
9060,P08034,R,X,220,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.13,,,,,,,,,1159,405,ENSG00000169562,ENST00000361726,CCDS14408.1,GJB1,0.78,,,,,4.66973,25.7,P08034_R220X,R,X,220,RX,R220X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0106583,0,0.363471,0.916424
9416,P29400,G,C,1241,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.04,,,,,,,,,228553,29107,ENSG00000188153,ENST00000328300,CCDS35366.1,COL4A5,0.73,,,deleterious,0,3.96486,20.3,P29400_G1241C,G,C,1241,GC,G1241C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.861,-4.864,4.003,,,,,,,,,1.04e-05,0,0.000353404,0.792807
9565,O60481,W,G,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.16,,,,,,,,,936,4132,ENSG00000156925,ENST00000287538,CCDS14663.1,ZIC3,0.55,probably_damaging,1,deleterious,0,3.53717,18.05,O60481_W255G,W,G,255,WG,W255G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.301,-3.094,1.793,0.138,B,B,0.76,0,,,,0.000511368,0,0.0174387,0.706391
9678,P48029,C,W,376,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,962,4,ENSG00000130821,ENST00000430077,CCDS48190.1,SLC6A8,0.72,probably_damaging,0.998,deleterious,0,2.50179,14.33,P48029_C376W,C,W,376,CW,C376W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,0.00178289,0,0.0608003,0.938273
9682,P33897,Y,D,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,,,,,,,,,32,3938,ENSG00000101986,ENST00000218104,CCDS14728.1,ABCD1,0.23,probably_damaging,0.999,deleterious,0,3.80486,19.32,P33897_Y174D,Y,D,174,YD,Y174D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.746,-3.61,1.864,,,,,,3.268,,67.65,0.00032578,0,0.0111098,0.905381
9689,P33897,E,X,145,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.07,,,,,,,,,1848,1566,ENSG00000101986,ENST00000443684,,ABCD1,0.65,,,,,4.7111,26.2,P33897_E145X,E,X,145,EX,E145X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00102372,0,0.034911,0.910457
9691,P33897,S,F,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.08,,,,,,,,,4803,458,ENSG00000101986,ENST00000443684,,ABCD1,0.82,probably_damaging,1,deleterious,0,4.08352,21,P33897_S183F,S,F,183,SF,S183F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,,,,,,,,,,,,0.001697,0,0.0578711,0.905366
9694,P33897,R,C,617,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.11,,,,,,,,,18186,1708,ENSG00000101986,ENST00000218104,CCDS14728.1,ABCD1,0.83,probably_damaging,0.997,deleterious,0,4.5149,24.3,P33897_R617C,R,C,617,RC,R617C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.000638851,0,0.0217861,0.776395
9695,P33897,R,H,617,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,18187,1707,ENSG00000101986,ENST00000218104,CCDS14728.1,ABCD1,0.83,probably_damaging,0.94,deleterious,0,5.21428,33,P33897_R617H,R,H,617,RH,R617H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,,,,,,,,,0.000638851,0,0.0217861,0.826049
9707,P30518,F,V,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,705,963,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.28,probably_damaging,0.987,deleterious,0,3.61991,18.42,P30518_F105V,F,V,105,FV,F105V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.149,-3.121,1.972,,,,,,,,,0.000975521,0,0.0332673,0.77446
9708,P30518,R,W,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,729,939,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.3,probably_damaging,1,deleterious,0,2.73019,15.09,P30518_R113W,R,W,113,RW,R113W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,0.00221108,0,0.0754023,0.779832
9718,P30518,Y,C,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.09,,,,,,,,,1231,437,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.75,possibly_damaging,0.731,deleterious,0.01,3.32647,17.19,P30518_Y280C,Y,C,280,YC,Y280C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.096,-4.679,3.583,,,,,,,,,0.00230979,0,0.0787686,0.756178
9721,P51608,G,S,428,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.12,,,,,,,,,27225,312,ENSG00000169057,ENST00000303391,CCDS14741.1,MECP2,0.88,,,tolerated,0.34,2.08891,12.94,P51608_G428S,G,S,428,GS,G428S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.321,-2.064,0.743,,,,,,8.824,8.824,43.62,0.00314848,0,0.10737,0.979973
9737,P21333,P,L,1291,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.15,0,0,0,,,,,,201,11055,ENSG00000196924,ENST00000422373,CCDS44021.1,FLNA,0.49,possibly_damaging,0.495,deleterious,0.02,2.65341,14.83,P21333_P1291L,P,L,1291,PL,P1291L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-2.079,-2.398,0.319,,,,,,24.911,24.911,80.2,0.000133737,0,0.00456071,1.00261
9751,P50402,Q,X,44,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.2,,,,,,,,,112,726,ENSG00000102119,ENST00000369842,CCDS14745.1,EMD,0.17,,,,,5.47835,35,P50402_Q44X,Q,X,44,QX,Q44X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0024631,0,0.0839968,0.964034
9754,Q16635,Y,X,51,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.64,0.15,,,,,,,,,17,555,ENSG00000102125,ENST00000475699,,TAZ,0.19,,,,,5.17181,32,Q16635_Y51X,Y,X,51,YX,Y51X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00493441,0,0.168274,0.93026
9761,P11413,L,P,369,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.64,0.13,0.002,0.005,0,0.001,,0.004,,,50,10,ENSG00000160211,ENST00000369620,,G6PD,0.66,benign,0.145,deleterious,0.04,2.04333,12.79,P11413_L369P,L,P,369,LP,L369P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00333072,0,0.113585,0.956264
13,Q9P202,N,K,796,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.65,0.09,0.18,0.08,0.231,0.23,0.36,0.3,0.06,0.22,22146,1845,ENSG00000095397,ENST00000362057,CCDS6806.1,DFNB31,0.88,benign,0.004,tolerated,0.24,-0.399968,2.127,Q9P202_N796K,N,K,796,NK,N796K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-2.214,-3.031,0.817,,,,,,16.007,16.007,87.21,0.00162728,0,0.0643554,0.977009
29,Q9HC10,A,P,1083,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.65,0.11,0.019,0.01,0.023,0.01,,0.01,0.004,0.02,3489,17350,ENSG00000115155,ENST00000403946,,OTOF,0.54,possibly_damaging,0.484,tolerated,0.27,2.85192,15.5,Q9HC10_A1083P,A,P,1083,AP,A1083P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-2.509,-3.473,0.964,,,,,,20.488,20.488,91.54,,,,0.955962
105,Q8TD43,Y,C,103,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.65,0.11,0,0,0,,,,,,10115,43878,ENSG00000130529,ENST00000427978,CCDS56098.1,TRPM4,0.1,probably_damaging,0.997,deleterious,0,3.60245,18.34,Q8TD43_Y103C,Y,C,103,YC,Y103C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.201,-5.124,3.923,,,,,,0.618,,43.74,0.00036777,0,0.0145445,0.807119
196,P38936,S,R,31,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.65,0.19,0.128,0.24,0.07,0.25,0.46,0.22,0.3,0.07,5468,305,ENSG00000124762,ENST00000373711,CCDS4824.1,CDKN1A,0.19,benign,0.001,tolerated,1,-2.05739,0.006,P38936_S31R,S,R,31,SR,S31R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-2.775,-1.921,-0.854,,,,,,29.999,29.999,85.98,0.00792588,0,0.313451,0.996212
254,P21817,N,H,2283,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.65,0.05,,,,,,,,,63210,90655,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.45,possibly_damaging,0.825,,,3.70358,18.81,P21817_N2283H,N,H,2283,NH,N2283H,Polar,PositiveCharge,5.47,7.59,2.12,132,155,23,114.1,153.2,39.1,68,-0.827,-3.982,3.155,,,,,,,,,,,,0.769737
290,P11498,A,S,312,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.65,0.09,,,,,,,,,41584,5900,ENSG00000173599,ENST00000524491,,PC,0.64,probably_damaging,0.955,deleterious,0.03,3.87256,19.68,P11498_A312S,A,S,312,AS,A312S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,,,,,,,,,,,,0.000121426,0,0.00480212,0.998149
291,P11498,H,L,36,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.65,0.13,,,,,,,,,36121,409,ENSG00000173599,ENST00000524491,,PC,0.07,probably_damaging,0.978,deleterious,0,5.1657,32,P11498_H36L,H,L,36,HL,H36L,PositiveCharge,Hydrophobic,7.59,9.71,2.12,155,131,-24,153.2,166.7,13.5,99,,,,,,,,,,,,0.0011428,0,0.0451952,0.916197
341,P02545,R,Q,262,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.65,0.15,0,0,0,,,,,,96,584,ENSG00000160789,ENST00000392353,,LMNA,0.53,benign,0.247,tolerated,0.3,3.08173,16.29,P02545_R262Q,R,Q,262,RQ,R262Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00138881,0,0.0549244,0.917458
71,P51801,A,T,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,253,8772,ENSG00000184908,ENST00000375679,CCDS168.1,CLCNKB,0.3,possibly_damaging,0.876,deleterious,0,4.85468,27.7,P51801_A204T,A,T,204,AT,A204T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.271,-3.263,1.992,,,,,,2.643,,89.67,0.00170356,0,0.0580948,0.902617
79,Q9NQ11,L,R,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,3140,883,ENSG00000159363,ENST00000502418,,ATP13A2,0.64,probably_damaging,0.991,deleterious,0,3.28709,17.04,Q9NQ11_L255R,L,R,255,LR,L255R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,,,,0.946893
80,Q9NQ11,G,R,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,276,27,ENSG00000159363,ENST00000503552,,ATP13A2,0.24,probably_damaging,0.968,deleterious,0.01,3.78462,19.22,Q9NQ11_G63R,G,R,63,GR,G63R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
88,P30038,S,L,292,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.23,0,0,0,,,,,,13394,6066,ENSG00000159423,ENST00000538309,CCDS53272.1,ALDH4A1,0.58,probably_damaging,0.994,deleterious,0,4.06102,20.9,P30038_S292L,S,L,292,SL,S292L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,,,,0.932753
221,Q9Y6C5,R,Q,719,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,15328,5684,ENSG00000117425,ENST00000447098,CCDS53312.1,PTCH2,0.63,probably_damaging,0.975,tolerated,0.19,3.71494,18.87,Q9Y6C5_R719Q,R,Q,719,RQ,R719Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.415,-2.18,0.765,,,,,,14.351,14.351,67.08,0.000538911,0,0.018378,1.00529
263,Q8WZ55,R,W,8,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,0.001,0.002,,,,275,11676,ENSG00000162399,ENST00000371265,CCDS602.1,BSND,0.03,probably_damaging,0.998,deleterious,0,3.89963,19.83,Q8WZ55_R8W,R,W,8,RW,R8W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.101,-5.178,4.077,,,,,,,,,0.00149067,0,0.0508349,0.7024
264,Q8WZ55,G,S,10,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,281,11670,ENSG00000162399,ENST00000371265,CCDS602.1,BSND,0.03,probably_damaging,0.998,deleterious,0,5.08629,31,Q8WZ55_G10S,G,S,10,GS,G10S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.763,-3.016,2.253,,,,,,,,,0.00220632,0,0.07524,0.806201
319,P78363,R,C,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,0,0,0,,,,,,22198,53291,ENSG00000198691,ENST00000370225,CCDS747.1,ABCA4,0.09,probably_damaging,0.942,deleterious,0.02,4.72944,26.4,P78363_R212C,R,C,212,RC,R212C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.32,-4.958,3.638,,,,,,0.486,,55.43,,,,0.731121
429,P02545,L,S,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,16,695,ENSG00000160789,ENST00000392353,,LMNA,0.61,probably_damaging,0.999,deleterious,0,4.30223,22.5,P02545_L299S,L,S,299,LS,L299S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,,,,,,,,,,,,0.00197122,0,0.0672226,0.943003
439,P02545,A,V,448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,253,58,ENSG00000160789,ENST00000392353,,LMNA,0.91,benign,0.05,tolerated,1,0.447329,6.429,P02545_A448V,A,V,448,AV,A448V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00237717,0,0.0810664,0.975319
453,P04629,P,L,659,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.17,,,,,,,,,35,1607,ENSG00000198400,ENST00000392302,CCDS30890.1,NTRK1,0.87,probably_damaging,1,deleterious,0,4.93806,28.6,P04629_P659L,P,L,659,PL,P659L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00118738,0,0.040492,0.915128
472,P50993,R,W,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,0,0,0,,,,,,731,2315,ENSG00000018625,ENST00000361216,CCDS1196.1,ATP1A2,0.06,possibly_damaging,0.806,deleterious,0,2.41633,14.04,P50993_R65W,R,W,65,RW,R65W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.657,-5.099,3.442,0.359,T,A,1.67,-0.25,0.391,,83.63,0.000699779,0,0.0238639,0.820274
487,P50336,H,P,20,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,66,1123,ENSG00000143224,ENST00000367999,CCDS1221.1,PPOX,0.04,possibly_damaging,0.678,tolerated,0.05,4.77095,26.8,P50336_H20P,H,P,20,HP,H20P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-1.655,-3.81,2.155,0.218,H,A,0.35,-0.27,1.283,,91.61,0.00305352,0,0.104131,0.750577
627,Q6P1J9,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.65,0.21,,,,,,,,,186,15971,ENSG00000134371,ENST00000367435,CCDS1382.1,CDC73,0,probably_damaging,0.991,deleterious,0.01,5.45927,35,Q6P1J9_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.985,-1.959,-0.026,,,,,,22.806,22.806,83.99,0.00236196,0.00188679,0.0805477,1.02241
680,Q13698,R,G,528,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,34536,38402,ENSG00000081248,ENST00000367338,,CACNA1S,0.28,probably_damaging,1,deleterious,0,4.17474,21.6,Q13698_R528G,R,G,528,RG,R528G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.415,-3.198,1.783,,,,,,2.002,,50.13,,,,0.809016
681,Q13835,Q,X,304,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.08,,,,,,,,,1443,2538,ENSG00000081277,ENST00000352845,CCDS30966.1,PKP1,0.41,,,,,6.19154,37,Q13835_Q304X,Q,X,304,QX,Q304X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
721,O00292,S,N,342,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,0,0,0,,,,,,41,913,ENSG00000143768,ENST00000366820,CCDS1549.1,LEFTY2,0.93,probably_damaging,0.936,tolerated,0.11,4.14275,21.4,O00292_S342N,S,N,342,SN,S342N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.82,-2.934,1.114,,,,,,5.365,5.365,71.86,0.00974566,0,0.332347,1.00802
780,Q99707,P,L,727,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,0,0,0,,,,,,1129,2665,ENSG00000116984,ENST00000366576,,MTR,0.89,probably_damaging,1,deleterious,0,5.35575,34,Q99707_P727L,P,L,727,PL,P727L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.000302626,0,0.0103202,0.98481
831,P07949,P,T,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,25517,11998,ENSG00000165731,ENST00000340058,CCDS53525.1,RET,0.18,possibly_damaging,0.55,deleterious,0.01,2.56226,14.53,P07949_P198T,P,T,198,PT,P198T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.4,-2.178,0.778,0.707,T,A,0.3,0.18,6.512,6.512,54.67,0.000283354,0,0.00966296,0.942333
832,P07949,G,C,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,35094,2421,ENSG00000165731,ENST00000498820,,RET,0.28,probably_damaging,1,deleterious,0,5.11274,32,P07949_G50C,G,C,50,GC,G50C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,,,,,,,,,,,,0.000460236,0,0.015695,0.971531
833,P07949,C,R,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,36542,973,ENSG00000165731,ENST00000498820,,RET,0.69,probably_damaging,0.998,deleterious,0,2.85232,15.5,P07949_C126R,C,R,126,CR,C126R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.000401363,0,0.0136873,0.968092
834,P07949,C,Y,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,36543,972,ENSG00000165731,ENST00000498820,,RET,0.69,probably_damaging,0.998,deleterious,0,3.1339,16.48,P07949_C126Y,C,Y,126,CY,C126Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.000401363,0,0.0136873,0.968699
835,P07949,C,W,128,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,36550,965,ENSG00000165731,ENST00000498820,,RET,0.71,probably_damaging,0.998,deleterious,0,2.27633,13.57,P07949_C128W,C,W,128,CW,C128W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,,,,,,,,,,,,0.000555215,0,0.018934,0.967687
838,P07949,C,R,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,36575,940,ENSG00000165731,ENST00000498820,,RET,0.76,probably_damaging,0.998,deleterious,0,3.67286,18.67,P07949_C137R,C,R,137,CR,C137R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.595,-3.795,2.2,0.19,.,B,1.66,0.3,1.049,,26.48,0.000231447,0,0.00789283,0.687836
842,P07949,C,W,137,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,36577,938,ENSG00000165731,ENST00000498820,,RET,0.76,probably_damaging,0.999,deleterious,0,2.70093,14.99,P07949_C137W,C,W,137,CW,C137W,Special,Hydrophobic,5.07,5.89,0.82,121,204,83,108.5,227.8,119.3,215,-1.595,-4.978,3.383,0.19,.,B,0.01,0.3,0.133,,26.48,0.000231447,0,0.00789283,0.668539
860,P28329,R,C,302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,32217,18454,ENSG00000070748,ENST00000351556,CCDS7233.1,CHAT,0.48,probably_damaging,1,deleterious,0,5.20979,33,P28329_R302C,R,C,302,RC,R302C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00209149,0,0.0713242,0.937925
890,P14222,Q,X,416,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.04,,,,,,,,,607,1126,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.75,,,,,6.06361,37,P14222_Q416X,Q,X,416,QX,Q416X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00328802,0,0.112128,0.955443
894,P14222,N,S,252,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,0.008,0.009,0.008,0.01,,0.01,0.01,0.01,116,1617,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.45,benign,0.007,tolerated,0.27,0.096594,4.521,P14222_N252S,N,S,252,NS,N252S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-2.178,-2.548,0.37,,,,,,16.326,16.326,87.57,0.00288948,0,0.0985372,1.01243
946,O75112,D,N,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,0.007,0.012,0.004,0.01,,0.01,0.02,0.003,18381,12969,ENSG00000122367,ENST00000372056,CCDS53549.1,LDB3,0.58,benign,0.132,tolerated,0.19,3.26954,16.97,O75112_D232N,D,N,232,DN,D232N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,0.000993898,0,0.033894,0.933711
1063,Q9UMD9,R,Q,1303,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,0,0,0,0.001,,,,0.001,51810,2907,ENSG00000065618,ENST00000353479,CCDS7554.1,COL17A1,0.87,,,tolerated,0.56,0.42562,6.312,Q9UMD9_R1303Q,R,Q,1303,RQ,R1303Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.821,-3.563,1.742,,,,,,1.848,,84.1,,,,0.904357
1170,P01308,H,D,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,100,1020,ENSG00000254647,ENST00000250971,CCDS7729.1,INS,0.31,possibly_damaging,0.588,deleterious,0.01,3.05188,16.19,P01308_H34D,H,D,34,HD,H34D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,-1.596,-2.247,0.651,,,,,,22,22,69.09,0.0122186,0,0.41668,0.960016
1171,F8WCM5,G,R,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,94,1026,ENSG00000129965,ENST00000397270,CCDS41598.1,INS-IGF2,0.16,probably_damaging,0.989,deleterious,0,4.37437,23.1,F8WCM5_G32R,G,R,32,GR,G32R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,,,,,,,,0.00471965,0,0.16095,0.735796
1172,P01308,G,S,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,94,1026,ENSG00000254647,ENST00000250971,CCDS7729.1,INS,0.29,probably_damaging,1,deleterious,0,4.87614,27.9,P01308_G32S,G,S,32,GS,G32S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.741,-3.036,2.295,,,,,,,,,0.00476408,0,0.162465,0.780414
1173,F8WCM5,A,D,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,71,1049,ENSG00000129965,ENST00000397270,CCDS41598.1,INS-IGF2,0.12,,,deleterious,0,0.988965,9.038,F8WCM5_A24D,A,D,24,AD,A24D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.453,-3.558,2.105,,,,,,1.029,,22.5,0.00110813,0,0.0377894,0.82939
1180,P07101,T,P,245,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,221,101,ENSG00000180176,ENST00000352909,CCDS7730.1,TH,0.49,possibly_damaging,0.862,deleterious,0,3.73296,18.96,P07101_T245P,T,P,245,TP,T245P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.00222654,0,0.0759297,0.977428
1297,Q9Y6N9,P,R,608,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,0.001,0,0.001,,,,,,7077,15214,ENSG00000006611,ENST00000005226,CCDS7825.1,USH1C,0.68,probably_damaging,0.939,deleterious,0,3.39342,17.45,Q9Y6N9_P608R,P,R,608,PR,P608R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,,,,0.946563
1413,Q13702,Y,X,269,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.08,,,,,,,,,16,3232,ENSG00000165917,ENST00000298854,CCDS7936.1,RAPSN,0.65,,,,,4.81338,27.2,Q13702_Y269X,Y,X,269,YX,Y269X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00337049,0,0.11494,0.945391
1451,Q86UX7,W,X,16,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.13,,,,,,,,,406,4334,ENSG00000149781,ENST00000345728,CCDS8059.1,FERMT3,0.02,,,,,5.98081,37,Q86UX7_W16X,W,X,16,WX,W16X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
1456,Q96S37,T,M,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,2285,8004,ENSG00000197891,ENST00000377574,CCDS8075.1,SLC22A12,0.39,possibly_damaging,0.883,deleterious,0.01,3.64586,18.54,Q96S37_T217M,T,M,217,TM,T217M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.374,-4.466,3.092,,,,,,0.722,,39.96,0.00358458,0,0.122242,0.836573
1469,P11217,L,P,396,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,,,,,,491,260,ENSG00000068976,ENST00000164139,CCDS8079.1,PYGM,0.47,probably_damaging,1,deleterious,0,4.42191,23.5,P11217_L396P,L,P,396,LP,L396P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.347,-3.786,2.439,0.007,H,A,1.07,-0.42,,,,0.00144923,0,0.0494217,0.59844
1516,O00170,R,X,304,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.09,,,,,,,,,1574,194,ENSG00000110711,ENST00000279146,CCDS8168.1,AIP,0.92,,,,,4.95689,28.9,O00170_R304X,R,X,304,RX,R304X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0115364,0,0.393415,0.917368
1524,O00217,R,H,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,264,9,ENSG00000110717,ENST00000526339,,NDUFS8,0.75,probably_damaging,1,deleterious,0,3.6346,18.49,O00217_R138H,R,H,138,RH,R138H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.963,-4.372,3.409,,,,,,1.058,,81.9,0.00285325,0,0.0973017,0.866265
1540,O75197,A,T,522,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,77348,59241,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.32,probably_damaging,0.967,deleterious,0,4.84828,27.6,O75197_A522T,A,T,522,AT,A522T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.175,-2.932,1.757,,,,,,,,,0.000165942,0,0.00565895,0.914513
1613,Q8WZ04,R,Q,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,299,285,ENSG00000184154,ENST00000435085,CCDS44668.1,LRTOMT,0.28,probably_damaging,0.987,deleterious,0,5.49849,35,Q8WZ04_R81Q,R,Q,81,RQ,R81Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.00552663,0.00952381,0.188469,0.809868
1640,Q13402,R,Q,421,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.17,0,0,0,,,,,,5422,1080,ENSG00000137474,ENST00000458169,,MYO7A,0.31,probably_damaging,1,deleterious,0,5.29891,34,Q13402_R421Q,R,Q,421,RQ,R421Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
1955,Q9GZX7,M,V,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.2,,,,,,,,,1790,942,ENSG00000111732,ENST00000537228,,AICDA,0.74,probably_damaging,0.979,deleterious,0,4.1089,21.2,Q9GZX7_M139V,M,V,139,MV,M139V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.541,-2.631,1.09,,,,,,,,,0.00196482,0,0.0670043,0.917623
2027,P02458,R,C,989,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,884,2976,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.67,,,deleterious,0,4.26644,22.3,P02458_R989C,R,C,989,RC,R989C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.933,-5.049,3.116,,,,,0,0.151,,8.81,0.000620795,0,0.0211704,0.655134
2038,P02458,G,V,546,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,2701,12364,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.37,probably_damaging,0.999,deleterious,0,4.87887,28,P02458_G546V,G,V,546,GV,G546V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.985,-3.413,2.428,,,,,0,0.441,,6.46,0.000168441,0,0.0057442,0.666867
2039,P02458,G,D,516,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,2526,12539,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.35,probably_damaging,0.999,deleterious,0,4.85025,27.6,P02458_G516D,G,D,516,GD,G516D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,0,,,,0.000424319,0,0.0144701,0.688043
2300,P16219,G,C,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,11188,757,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.22,probably_damaging,0.996,deleterious,0,3.54115,18.07,P16219_G92C,G,C,92,GC,G92C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.15,-4.725,3.575,0.471,.,l,0.75,0.43,1.575,,86.41,0.00199121,0,0.0679045,0.759161
2313,P20823,P,L,447,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,1114,338,ENSG00000135100,ENST00000544413,,HNF1A,0.7,probably_damaging,0.994,deleterious,0,4.85301,27.7,P20823_P447L,P,L,447,PL,P447L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,0.00209652,0,0.0714955,0.793484
2593,P55771,G,S,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.21,,,,,,,,,469,101,ENSG00000198807,ENST00000402703,CCDS9662.1,PAX9,0.15,probably_damaging,0.997,deleterious,0,5.39663,34,P55771_G51S,G,S,51,GS,G51S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,0.425,H,A,0.02,-1.09,,,,0.00039434,0,0.0134478,0.716805
2595,P55771,K,E,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.16,,,,,,,,,589,20,ENSG00000198807,ENST00000402703,CCDS9662.1,PAX9,0.27,probably_damaging,0.977,deleterious,0,4.74589,26.5,P55771_K91E,K,E,91,KE,K91E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.265,-2.725,1.46,0.299,H,A,1.3,1.03,,,,0.000300734,0,0.0102556,0.888769
2623,P12644,R,H,287,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,0.001,0.003,0,0.001,,,0.004,,1749,144,ENSG00000125378,ENST00000558984,CCDS9715.1,BMP4,0.7,benign,0,tolerated,0.33,0.724589,7.854,P12644_R287H,R,H,287,RH,R287H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.874,-2.307,0.433,,,,,,31.846,31.846,89.95,0.00362375,0,0.123577,1.01721
2650,P11277,S,P,2019,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.04,,,,,,,,,387,503,ENSG00000070182,ENST00000389721,CCDS32100.1,SPTB,0.94,benign,0.265,tolerated,0.13,2.18377,13.26,P11277_S2019P,S,P,2019,SP,S2019P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.44,-3.599,2.159,0.504,H,A,0.25,-0.75,1.08,,58.73,0.00154289,0,0.0526158,0.653861
3022,P49815,Q,X,441,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.16,,,,,,,,,204,5,ENSG00000103197,ENST00000439673,,TSC2,0.26,,,,,6.58971,37,P49815_Q441X,Q,X,441,QX,Q441X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3041,Q99758,L,P,334,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,5394,53,ENSG00000167972,ENST00000563816,,ABCA3,0.81,probably_damaging,0.994,deleterious,0,2.68346,14.93,Q99758_L334P,L,P,334,LP,L334P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
3088,O95255,P,L,1483,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.03,0,0,0,0.001,,,0.002,,5580,64,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.99,probably_damaging,0.999,deleterious,0,5.03573,29.8,O95255_P1483L,P,L,1483,PL,P1483L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.83,-2.554,1.724,,,,,,20.837,20.837,45.11,0.00667027,0,0.22747,0.825623
3116,O95255,T,I,1301,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,765,4879,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.87,probably_damaging,0.999,deleterious,0,4.0371,20.7,O95255_T1301I,T,I,1301,TI,T1301I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-0.788,-3.693,2.905,,,,,,1.005,,41.72,0.00056324,0,0.0192076,0.848949
3125,O95255,R,Q,1268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,0.224,0.108,0.283,0.19,0.12,0.25,0.08,0.3,65693,7609,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.84,benign,0.006,tolerated,0.51,1.73406,11.76,O95255_R1268Q,R,Q,1268,RQ,R1268Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.116,-2.553,0.437,,,,,,18.262,18.262,74.12,0.000658571,0,0.0224586,1.01508
3161,O95255,A,T,950,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,0,0,0.001,,,,,,53642,19660,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.63,benign,0.007,tolerated,0.6,-0.682365,1.029,O95255_A950T,A,T,950,AT,A950T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-2.185,-2.133,-0.052,,,,,,21.057,21.057,85.63,0.000693392,0,0.0236461,1.02305
3162,O95255,P,P,945,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.65,0.05,0.078,0.116,0.059,0.14,0.24,0.12,0.14,0.06,53629,19673,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.63,,,,,-0.963684,0.318,O95255_P945P,P,P,945,PP,P945P,Special,Special,6.3,6.3,0,115,115,0,112.7,112.7,0,0,,,,,,,,,,,,0.000573032,0,0.0195416,1.00426
3218,O95255,V,V,415,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.65,0.15,0.306,0.247,0.336,0.24,0.08,0.28,0.25,0.33,25321,16409,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.28,,,,,-0.067063,3.673,O95255_V415V,V,V,415,VV,V415V,Hydrophobic,Hydrophobic,5.61,5.61,0,117,117,0,140,140,0,0,,,,,,,,,,,,0.000371449,0,0.0126672,1.00404
3219,O95255,V,A,415,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,,,,,,25320,16410,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.28,possibly_damaging,0.665,tolerated,0.23,2.11162,13.02,O95255_V415A,V,A,415,VA,V415A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.113,-1.801,0.688,,,,,,14.242,14.242,33.47,0.000371449,0,0.0126672,0.98411
3220,O95255,S,G,398,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,25268,16462,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.26,benign,0.277,deleterious,0,1.78499,11.93,O95255_S398G,S,G,398,SG,S398G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-1.61,-2.652,1.042,,,,,,21.066,21.066,83.77,0.000698535,0,0.0238215,0.985457
3338,P55017,R,H,654,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,0,0,0,,,,,,21191,27004,ENSG00000070915,ENST00000566786,CCDS45491.1,SLC12A3,0.64,probably_damaging,0.939,deleterious,0,4.42945,23.5,P55017_R654H,R,H,654,RH,R654H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000835429,0,0.0284899,1.00233
3339,P55017,R,L,654,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,21191,27004,ENSG00000070915,ENST00000566786,CCDS45491.1,SLC12A3,0.64,probably_damaging,0.964,deleterious,0,4.42031,23.5,P55017_R654L,R,L,654,RL,R654L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.000835429,0,0.0284899,0.980977
3396,Q12946,X,R,380,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.65,0.11,,,,,,,,,2556,1388,ENSG00000103241,ENST00000262426,CCDS10957.2,FOXF1,1,,,,,3.61849,18.41,Q12946_X380R,X,R,380,XR,X380R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,,,,0.934274
3411,P34059,Q,X,398,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.11,,,,,,,,,27553,3749,ENSG00000141012,ENST00000542788,,GALNS,0.89,,,,,3.76853,19.13,P34059_Q398X,Q,X,398,QX,Q398X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00419667,0.00806452,0.143115,0.955443
3439,P08697,V,M,347,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.16,,,,,,,,,11263,89,ENSG00000167711,ENST00000450523,CCDS54064.1,SERPINF2,0.81,possibly_damaging,0.793,tolerated,0.06,3.27126,16.98,P08697_V347M,V,M,347,VM,V347M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00199252,0,0.0679491,0.985906
3469,Q04844,R,W,331,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.24,,,,,,,,,28,1291,ENSG00000108556,ENST00000293780,CCDS11058.1,CHRNE,0.67,probably_damaging,1,deleterious,0,2.75699,15.18,Q04844_R331W,R,W,331,RW,R331W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,0.261,.,A,1.67,0,,,,0.00126776,0,0.0432331,0.716477
3497,P49748,R,W,240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,333,11,ENSG00000072778,ENST00000542255,,ACADVL,0.85,,,,,2.07652,12.9,P49748_R240W,R,W,240,RW,R240W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00226828,0,0.0773529,0.96958
3562,Q01453,L,P,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.19,,,,,,,,,88,401,ENSG00000109099,ENST00000426385,,PMP22,0.13,,,,,2.20484,13.33,Q01453_L16P,L,P,16,LP,L16P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.398,-3.742,2.344,,,,,,2.085,,84.38,0.000990339,0,0.0337726,0.868644
3678,P54802,R,P,565,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,7767,747,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.76,probably_damaging,1,deleterious,0,3.94921,20.2,P54802_R565P,R,P,565,RP,R565P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.101,-3.735,2.634,,,,,,,,,0.00115433,0,0.039365,0.716549
3711,Q9BUM1,G,R,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,5056,558,ENSG00000141349,ENST00000269097,CCDS11476.1,G6PC3,0.76,probably_damaging,0.999,deleterious,0,4.90329,28.2,Q9BUM1_G262R,G,R,262,GR,G262R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.0040624,0,0.138536,0.756444
3717,P02730,S,P,773,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.04,,,,,,,,,16559,3198,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.85,probably_damaging,0.998,deleterious,0,4.70579,26.1,P02730_S773P,S,P,773,SP,S773P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-0.917,-3.856,2.939,,,,,,1.07,,37.32,0.00105119,0,0.0358477,0.819974
3732,P02730,Q,X,330,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.05,,,,,,,,,9613,1319,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.36,,,,,2.92798,15.76,P02730_Q330X,Q,X,330,QX,Q330X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000988613,0,0.0337138,0.912628
3733,P02730,P,R,327,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,0.001,0.002,0,0.001,,,0.002,,9605,1327,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.36,possibly_damaging,0.444,deleterious,0.04,2.1072,13,P02730_P327R,P,R,327,PR,P327R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-2.261,-3.352,1.091,0.338,.,B,0.68,2.32,12.614,12.614,83.86,0.00100956,0,0.0344282,0.951965
3759,P08514,R,H,358,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,1691,3573,ENSG00000005961,ENST00000353281,,ITGA2B,0.36,probably_damaging,0.996,deleterious,0,4.71674,26.2,P08514_R358H,R,H,358,RH,R358H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.464,-4.198,2.734,0.111,E,B,1.03,-0.57,0.822,,26.85,0.000817632,0,0.027883,0.582775
3762,P08514,L,P,214,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,128,5136,ENSG00000005961,ENST00000353281,,ITGA2B,0.21,probably_damaging,0.998,deleterious,0.01,4.16075,21.5,P08514_L214P,L,P,214,LP,L214P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.291,-3.868,2.577,0.007,E,B,1.07,-0.52,0.526,,26.85,0.000804715,0,0.0274425,0.585383
3765,P14136,R,L,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.16,,,,,,,,,3750,448,ENSG00000131095,ENST00000435360,CCDS45708.1,GFAP,0.64,probably_damaging,0.998,deleterious,0.01,4.96966,29,P14136_R276L,R,L,276,RL,R276L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.184,-3.175,1.991,,,,,,,,,0.00164127,0,0.0559706,0.758634
3798,P02452,G,V,1184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,1652,705,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.81,,,deleterious,0,1.03401,9.224,P02452_G1184V,G,V,1184,GV,G1184V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.921,-3.489,2.568,,,,,0,,,,6.04e-06,0,0.000205907,0.656164
3800,P02452,G,C,1166,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,1505,558,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.8,,,deleterious,0,2.7172,15.05,P02452_G1166C,G,C,1166,GC,G1166C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.185,-2.258,1.073,,,,,0,38.657,38.657,79.99,7.89e-06,0,0.000269134,0.840238
3843,Q9H1B5,T,R,801,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,0.345,0.241,0.398,0.27,0.09,0.32,0.23,0.41,1117,1057,ENSG00000015532,ENST00000017003,CCDS11563.1,XYLT2,0.93,benign,0.025,tolerated,0.07,0.281686,5.524,Q9H1B5_T801R,T,R,801,TR,T801R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-2.138,-3.641,1.503,,,,,,9.505,,93.87,0.00288943,0,0.0985354,0.951728
3863,P05164,M,T,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.19,0.009,0.002,0.013,0.01,,0.01,,0.02,259,304,ENSG00000005381,ENST00000340482,,MPO,0.36,benign,0.107,deleterious,0,3.55499,18.13,P05164_M283T,M,T,283,MT,M283T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.00162453,0,0.0553999,0.915075
3888,P35499,R,C,1448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.17,,,,,,,,,30979,3386,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.79,probably_damaging,0.997,deleterious,0,3.11622,16.41,P35499_R1448C,R,C,1448,RC,R1448C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.111,-4.942,3.831,,,,,,1.683,,92.32,0.000114309,0,0.00389818,0.834261
3914,Q9Y2T1,R,X,591,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.11,,,,,,,,,188,2544,ENSG00000168646,ENST00000375702,,AXIN2,0.76,,,,,8.3914,40,Q9Y2T1_R591X,R,X,591,RX,R591X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3957,Q00LT1,C,Y,2,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,107,4228,ENSG00000214140,ENST00000397630,CCDS42382.1,PRCD,0.04,probably_damaging,0.937,deleterious,0,4.07722,21,Q00LT1_C2Y,C,Y,2,CY,C2Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,,,,,,,,,,,,0.744925
3970,P10253,G,R,643,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,530,35,ENSG00000171298,ENST00000390015,CCDS32760.1,GAA,0.68,probably_damaging,1,deleterious,0,5.04328,29.9,P10253_G643R,G,R,643,GR,G643R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.581,-3.108,2.527,,,,,,15.865,15.865,46.11,0.000609378,0,0.020781,0.837096
3994,P32322,R,H,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,0.001,,,0.004,,1666,11,ENSG00000183010,ENST00000337943,CCDS11794.1,PYCR1,0.38,possibly_damaging,0.794,deleterious,0.01,4.07431,20.9,P32322_R119H,R,H,119,RH,R119H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,0.021,E,B,1.03,-0.48,,,,0.000682358,0,0.0232698,0.574223
4159,P08246,G,R,214,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,3709,243,ENSG00000197561,ENST00000263621,CCDS12045.1,ELANE,0.8,probably_damaging,1,deleterious,0,2.71412,15.04,P08246_G214R,G,R,214,GR,G214R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,E,B,0.91,-0.91,,,,0.00359661,0,0.122652,0.496347
4171,Q15831,G,R,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,,,,,,13553,9084,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.31,probably_damaging,0.979,deleterious,0.01,4.7424,26.5,Q15831_G135R,G,R,135,GR,G135R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.069,E,B,0.91,-0.27,,,,0.00249058,0,0.084934,0.505898
4233,Q9H324,R,X,237,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.13,,,,,,,,,7271,20787,ENSG00000142303,ENST00000270328,CCDS12206.1,ADAMTS10,0.21,,,,,7.55206,39,Q9H324_R237X,R,X,237,RX,R237X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000578899,0,0.0197417,0.977351
4237,P50570,E,K,368,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,75750,38075,ENSG00000079805,ENST00000359692,CCDS45968.1,DNM2,0.42,possibly_damaging,0.825,deleterious,0,5.70008,36,P50570_E368K,E,K,368,EK,E368K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.404,-2.689,1.285,,,,,,,,,4.69e-05,0,0.00159797,0.928775
4238,P50570,R,W,369,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,75753,38072,ENSG00000079805,ENST00000359692,CCDS45968.1,DNM2,0.42,probably_damaging,0.977,deleterious,0,3.88744,19.76,P50570_R369W,R,W,369,RW,R369W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,,,,,,,,,0.000569436,0,0.0194189,0.811912
4239,P50570,R,Q,369,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,75754,38071,ENSG00000079805,ENST00000359692,CCDS45968.1,DNM2,0.42,benign,0.356,deleterious,0.02,4.74003,26.5,P50570_R369Q,R,Q,369,RQ,R369Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-3.131,1.549,,,,,,,,,0.000569436,0,0.0194189,0.92011
4251,P01130,E,K,408,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,0,0,0,,,,,,59,169,ENSG00000130164,ENST00000558013,,LDLR,0.48,possibly_damaging,0.9,deleterious,0.03,4.23962,22.1,P01130_E408K,E,K,408,EK,E408K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-3.025,1.77,0.267,.,?,1.3,0,2.296,,50.35,0.000642222,0,0.0219011,0.810336
4296,Q9UM47,A,P,1020,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,0.109,0.294,0.014,0.08,,0.06,0.3,0.02,20217,21131,ENSG00000074181,ENST00000263388,CCDS12326.1,NOTCH3,0.44,benign,0.094,tolerated,0.22,1.09354,9.463,Q9UM47_A1020P,A,P,1020,AP,A1020P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.483,-2.266,0.783,,,,,,34.68,34.68,90.52,,,,0.972737
4302,Q9UM47,W,C,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.04,,,,,,,,,8478,32870,ENSG00000074181,ENST00000263388,CCDS12326.1,NOTCH3,0.03,probably_damaging,0.933,deleterious,0,2.55643,14.51,Q9UM47_W71C,W,C,71,WC,W71C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-2.044,-4.814,2.77,,,,,,1.112,,70.1,,,,0.817776
4309,P51460,P,S,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,0,0,0.001,0.001,,,,0.001,4540,457,ENSG00000248099,ENST00000379695,,INSL3,0.8,probably_damaging,0.956,deleterious,0,2.39593,13.97,P51460_P125S,P,S,125,PS,P125S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.0252742,0,0.861903,0.955899
4322,O75462,W,C,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,9956,3668,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,0.67,probably_damaging,0.969,deleterious,0,4.29755,22.5,O75462_W284C,W,C,284,WC,W284C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-2.01,-5.352,3.342,,,,,,1.569,,73.22,0.00314873,0,0.107378,0.810856
4330,P49747,D,G,440,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.17,,,,,,,,,999,83,ENSG00000105664,ENST00000542601,,COMP,0.61,probably_damaging,0.999,deleterious,0,4.41125,23.4,P49747_D440G,D,G,440,DG,D440G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,,,,,,,,,,,,0.000371395,0,0.0126653,0.983875
4334,P49747,C,R,315,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.23,,,,,,,,,549,1465,ENSG00000105664,ENST00000542601,,COMP,0.44,benign,0.182,deleterious,0,2.90904,15.69,P49747_C315R,C,R,315,CR,C315R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.000366972,0,0.0125145,0.968092
4357,P06744,H,P,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.17,,,,,,,,,198,37089,ENSG00000105220,ENST00000415930,CCDS54246.1,GPI,0.1,benign,0.233,tolerated,0.1,1.18833,9.831,P06744_H59P,H,P,59,HP,H59P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,,,,,,,,,,,,0.00253559,0,0.0864689,0.972817
4418,P02649,E,K,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,0.001,0.002,,,,1417,779,ENSG00000130203,ENST00000446996,,APOE,0.1,benign,0.217,tolerated,0.16,1.47813,10.89,P02649_E21K,E,K,21,EK,E21K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.681,-3.332,1.651,0.171,S,a,1.3,0.16,6.558,,72.56,0.00535168,0,0.182503,0.842642
4437,P18074,Q,X,676,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.08,,,,,,,,,6823,620,ENSG00000104884,ENST00000391941,,ERCC2,0.95,,,,,9.88035,43,P18074_Q676X,Q,X,676,QX,Q676X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00291015,0,0.0992422,0.955443
4439,P18074,R,W,672,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,0,0,0,,,,,,6835,632,ENSG00000104884,ENST00000391941,,ERCC2,0.95,probably_damaging,0.991,deleterious,0,4.10876,21.2,P18074_R672W,R,W,672,RW,R672W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00307184,0,0.104756,0.960989
4445,P18074,L,P,435,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,13234,5692,ENSG00000104884,ENST00000391941,,ERCC2,0.61,probably_damaging,0.969,deleterious,0,4.17851,21.6,P18074_L435P,L,P,435,LP,L435P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00197457,0,0.0673369,0.964361
4463,O43186,R,Q,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,1820,44,ENSG00000105392,ENST00000539067,CCDS12706.1,CRX,0.14,benign,0.011,deleterious,0,3.36807,17.35,O43186_R41Q,R,Q,41,RQ,R41Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.398,-3.185,1.787,,,,,,,,,0.00149472,0,0.0509731,0.830708
4474,P01229,G,S,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,0.001,0.004,,,,961,150,ENSG00000104826,ENST00000221421,CCDS12748.1,LHB,0.87,probably_damaging,1,tolerated,0.42,1.07867,9.404,P01229_G122S,G,S,122,GS,G122S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-2.229,-2.786,0.557,0.264,S,b,0.02,-0.08,15.909,15.909,70.21,0.0346977,0.263158,1.18326,0.998449
4483,Q8TD43,P,S,616,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,42898,11095,ENSG00000130529,ENST00000355712,,TRPM4,0.72,probably_damaging,0.934,tolerated,0.27,3.20649,16.74,Q8TD43_P616S,P,S,616,PS,P616S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.000406657,0,0.0138678,0.99439
4527,P07202,E,K,799,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,0.001,0.002,,,,179,13027,ENSG00000115705,ENST00000329066,CCDS1643.1,TPO,0.86,probably_damaging,0.99,deleterious,0,3.67413,18.67,P07202_E799K,E,K,799,EK,E799K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.075,-2.824,1.749,,,,,,,,,0.00352548,0,0.120226,0.884951
4530,O14901,A,S,330,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,0,0,0,,,,,,4131,497,ENSG00000172059,ENST00000540845,CCDS54333.1,KLF11,0.67,benign,0.066,tolerated,0.25,1.05145,9.294,O14901_A330S,A,S,330,AS,A330S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,,,,,,,,,,,,0.00262326,0,0.0894585,0.963642
4581,P50053,A,T,43,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,0,0,0,,,,,,5572,7103,ENSG00000138030,ENST00000429697,,KHK,0.15,probably_damaging,0.906,deleterious,0,5.50659,35,P50053_A43T,A,T,43,AT,A43T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.088,-2.973,1.885,,H,A,0.22,-0.11,,,,0.00428252,0,0.146043,0.807172
4796,Q06710,S,G,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.16,,,,,,,,,10516,5234,ENSG00000125618,ENST00000263334,CCDS46399.1,PAX8,0.14,probably_damaging,0.988,deleterious,0,4.49479,24.1,Q06710_S54G,S,G,54,SG,S54G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-0.927,-2.847,1.92,0.648,.,a,0.02,-0.49,,,,0.000430315,0,0.0146746,0.866233
4823,P04070,S,L,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,5206,452,ENSG00000115718,ENST00000402125,,PROC,0.37,probably_damaging,0.949,deleterious,0,2.35075,13.82,P04070_S87L,S,L,87,SL,S87L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,,,,,,,,,,,,0.00269928,0,0.0920509,0.949277
4998,P07320,P,T,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,,,,,,208,2687,ENSG00000118231,ENST00000264376,CCDS2378.1,CRYGD,0.14,benign,0.281,deleterious,0.05,2.28267,13.59,P07320_P24T,P,T,24,PT,P24T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.964,-2.384,0.42,0.406,S,A,0.3,-0.31,14.133,14.133,90.8,0.00618411,0,0.210891,0.958336
5055,Q14623,D,E,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.2,,,,,,,,,300,5744,ENSG00000163501,ENST00000295731,CCDS33380.1,IHH,0.24,probably_damaging,0.995,deleterious,0,4.02808,20.7,Q14623_D100E,D,E,100,DE,D100E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.255,-2.756,1.501,,G,A,0.29,-0.41,2.419,,60.1,0.00164229,0.00321543,0.0560053,0.764572
5056,Q14623,D,N,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.2,,,,,,,,,298,5746,ENSG00000163501,ENST00000295731,CCDS33380.1,IHH,0.24,probably_damaging,0.999,deleterious,0,4.70388,26.1,Q14623_D100N,D,N,100,DN,D100N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.255,-3.214,1.959,,G,A,0.14,-0.41,1.578,,60.1,0.00164229,0.00321543,0.0560053,0.704287
5090,P35568,T,R,608,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,2844,61875,ENSG00000169047,ENST00000305123,CCDS2463.1,IRS1,0.49,benign,0.086,tolerated,0.25,-0.087364,3.572,P35568_T608R,T,R,608,TR,T608R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.764,-3.581,1.817,,,,,,5.334,,86.31,,,,0.912712
5129,P21549,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.65,0.04,0,0,0,,,,,,21,4602,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0,possibly_damaging,0.713,deleterious,0,1.69844,11.64,P21549_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.422,-3.396,1.974,,,,,,2.7,,54.34,0.00176298,0.00255755,0.0601212,0.883553
5136,P21549,G,R,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,140,4483,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.1,probably_damaging,0.992,tolerated,0.06,1.86659,12.2,P21549_G41R,G,R,41,GR,G41R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-2.012,-3.515,1.503,0.046,H,A,0.91,-1.22,21.854,21.854,83.93,0.00393969,0,0.134351,0.704346
5137,P21549,G,E,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,141,4482,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.1,probably_damaging,0.992,tolerated,0.05,1.83596,12.1,P21549_G41E,G,E,41,GE,G41E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-2.012,-3.91,1.898,0.046,H,A,0.75,-1.22,5.718,,83.93,0.00393969,0,0.134351,0.688968
5138,P21549,G,V,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,141,4482,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.1,probably_damaging,0.992,tolerated,0.24,1.08961,9.447,P21549_G41V,G,V,41,GV,G41V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-2.012,-3.524,1.512,0.046,H,A,0.73,-1.22,8.544,,83.93,0.00393969,0,0.134351,0.697508
5139,P21549,G,E,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,0.001,,,,0.001,144,4479,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.11,possibly_damaging,0.868,deleterious,0.02,1.50846,10.99,P21549_G42E,G,E,42,GE,G42E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.941,-3.33,1.389,0.218,T,A,0.75,-1.04,13.868,13.868,83.16,0.0041901,0,0.142891,0.796604
5151,P21549,L,P,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,460,4163,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.26,possibly_damaging,0.701,deleterious,0,3.99269,20.5,P21549_L101P,L,P,101,LP,L101P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.222,-3.409,2.187,,E,B,1.07,0.27,16.786,16.786,75,0.00375806,0,0.128157,0.693128
5156,P21549,R,X,111,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.07,,,,,,,,,489,4134,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.28,,,,,7.587,39,P21549_R111X,R,X,111,RX,R111X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000805225,0,0.0274598,0.977351
5158,P21549,G,R,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,504,4119,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.3,probably_damaging,0.965,deleterious,0,3.27079,16.98,P21549_G116R,G,R,116,GR,G116R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-2.023,-4.24,2.217,,H,A,0.91,-0.1,2.647,,81.12,0.00388322,0,0.132426,0.715532
5179,P21549,D,N,183,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.04,,,,,,,,,1812,468,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.47,probably_damaging,1,deleterious,0,4.25142,22.2,P21549_D183N,D,N,183,DN,D183N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.81,-3.515,2.705,,E,B,0.14,-1.07,3.051,,75,0.000809898,0,0.0276192,0.587399
5181,P21549,G,R,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.04,,,,,,,,,1833,447,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.48,probably_damaging,1,deleterious,0,3.05552,16.2,P21549_G190R,G,R,190,GR,G190R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.01,-4.167,3.157,0.011,T,A,0.91,-0.3,2.686,,84.95,0.0021562,0,0.0735307,0.662049
5232,Q8N465,I,S,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,38,6380,ENSG00000180902,ENST00000321264,CCDS33426.1,D2HGDH,0.28,probably_damaging,0.984,deleterious,0,4.107,21.2,Q8N465_I147S,I,S,147,IS,I147S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-1.44,-3.476,2.036,,,,,,2.39,,73.9,0.00323723,0,0.110396,0.868641
5253,P01185,P,L,7,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,70,2099,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.04,benign,0.012,tolerated,0.2,0.922315,8.755,P01185_P7L,P,L,7,PL,P7L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.726,-2.251,0.525,,,,,,24.5,24.5,85.37,0.00762385,0.00636943,0.259989,0.961338
5298,P78504,L,S,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.19,,,,,,,,,983,35294,ENSG00000101384,ENST00000254958,CCDS13112.1,JAG1,0.03,probably_damaging,0.983,deleterious,0,4.1146,21.2,P78504_L37S,L,S,37,LS,L37S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.597,-3.561,1.964,,,,,,2.113,,92.78,0.000303237,0,0.010341,0.876496
5326,P23526,Y,C,143,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,0,0,0,,,,,,9574,910,ENSG00000101444,ENST00000217426,CCDS13233.1,AHCY,0.33,benign,0.411,deleterious,0.02,3.3445,17.26,P23526_Y143C,Y,C,143,YC,Y143C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.593,-4.723,3.13,0.254,.,a,0.25,1.32,0.375,,42.82,0.00279599,0,0.095349,0.688017
5341,P43026,M,V,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,832,4047,ENSG00000125965,ENST00000374372,CCDS13254.1,GDF5,0.35,probably_damaging,0.999,deleterious,0.01,3.29556,17.07,P43026_M173V,M,V,173,MV,M173V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.406,-2.671,1.265,,,,,,,,,0.00269801,0,0.0920077,0.899634
5415,O43526,E,D,515,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,0.01,0.04,,,,58465,1195,ENSG00000075043,ENST00000359689,,KCNQ2,0.59,probably_damaging,0.999,tolerated,0.55,0.867622,8.516,O43526_E515D,E,D,515,ED,E515D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.209,-1.442,0.233,,,,,,35.396,35.396,89.22,0.00171294,0,0.0584149,1.01371
5436,O43526,D,G,212,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,27925,11035,ENSG00000075043,ENST00000359689,,KCNQ2,0.24,probably_damaging,0.995,deleterious,0,4.16723,21.6,O43526_D212G,D,G,212,DG,D212G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-0.785,-3.205,2.42,,,,,,2.545,,71.9,0.000209293,0,0.00713733,0.929231
5522,P35520,G,S,307,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.16,0,0,0,,,,,,261,1069,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.56,probably_damaging,0.999,deleterious,0,4.59565,25,P35520_G307S,G,S,307,GS,G307S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,0.115,.,g,0.02,-0.05,,,,0.000530201,0,0.0180809,0.75437
5524,P35520,R,K,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,297,2012,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.48,probably_damaging,0.959,tolerated,0.21,4.89889,28.2,P35520_R266K,R,K,266,RK,R266K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,-1.281,-2.559,1.278,0.192,H,A,1.14,0.07,,,,0.0025336,0,0.0864012,0.853606
5540,O43918,G,W,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,582,8054,ENSG00000160224,ENST00000291582,CCDS13706.1,AIRE,0.42,probably_damaging,1,deleterious,0,2.54158,14.46,O43918_G228W,G,W,228,GW,G228W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-0.861,-4.874,4.013,,,,,,,,,0.000728724,0,0.024851,0.775529
5542,P05107,R,C,593,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,,,,,,245,3043,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.77,probably_damaging,0.989,deleterious,0,2.56816,14.55,P05107_R593C,R,C,593,RC,R593C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.23,-4.876,3.646,0.594,S,B,1.66,-0.02,1.221,,66.97,0.00186404,0,0.0635676,0.675509
5549,P05107,G,R,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,8903,177,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.22,probably_damaging,0.987,deleterious,0,3.30484,17.11,P05107_G169R,G,R,169,GR,G169R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,E,B,0.91,0.11,,,,0.000246075,0,0.00839167,0.605714
5559,P12110,G,S,271,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,2264,1641,ENSG00000142173,ENST00000397763,CCDS13729.1,COL6A2,0.3,probably_damaging,0.997,,,3.48055,17.81,P12110_G271S,G,S,271,GS,G271S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,,,,,,,,,0.000627612,0,0.0214029,0.859363
5590,P26998,G,R,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,,,,,,7196,199,ENSG00000100053,ENST00000215855,CCDS13830.1,CRYBB3,0.78,probably_damaging,1,deleterious,0,4.98544,29.2,P26998_G165R,G,R,165,GR,G165R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,0.356,T,l,0.91,-1.13,,,,0.00639688,0.0217391,0.218147,0.52852
5593,P53673,F,S,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,3620,5039,ENSG00000196431,ENST00000354760,CCDS13841.1,CRYBA4,0.48,probably_damaging,0.998,deleterious,0,4.01635,20.6,P53673_F94S,F,S,94,FS,F94S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.517,-3.422,1.905,,E,B,0.85,-0.42,1.352,,55.1,0.00449196,0,0.153185,0.571446
5621,Q8IU80,P,A,756,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,37431,784,ENSG00000187045,ENST00000406725,,TMPRSS6,0.94,probably_damaging,0.999,deleterious,0,3.29509,17.07,Q8IU80_P756A,P,A,756,PA,P756A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,,,,,,,,,,,,,,,0.95904
5648,O60733,V,E,310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.19,,,,,,,,,102,3438,ENSG00000184381,ENST00000335539,CCDS33645.1,PLA2G6,0.41,probably_damaging,0.982,deleterious,0,4.63935,25.4,O60733_V310E,V,E,310,VE,V310E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.205,-3.586,2.381,,,,,,0.815,,45.41,0.000694355,0,0.0236789,0.857047
5663,P10635,P,S,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,0.189,0.12,0.224,0.26,0.52,0.17,0.09,0.2,122,4136,ENSG00000100197,ENST00000360608,CCDS46721.1,CYP2D6,0.07,possibly_damaging,0.581,deleterious,0.03,3.60227,18.34,P10635_P34S,P,S,34,PS,P34S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.906,-3.241,2.335,,,,,,,,,0.000770886,0,0.0262888,0.830826
5687,Q9BV10,R,Q,146,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,0,0,0,,,,,,378,6505,ENSG00000182858,ENST00000330817,CCDS14081.1,ALG12,0.3,possibly_damaging,0.764,deleterious,0,5.06347,31,Q9BV10_R146Q,R,Q,146,RQ,R146Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.000650464,0,0.0221822,0.857498
5713,P15289,P,T,425,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.04,,,,,,,,,2760,363,ENSG00000100299,ENST00000547805,,ARSA,0.84,probably_damaging,1,tolerated,0.21,3.8477,19.54,P15289_P425T,P,T,425,PT,P425T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-0.966,-3.239,2.273,0.549,E,B,0.3,-0.74,,,,0.00353834,0.0121951,0.120665,0.642176
5714,P15289,T,I,409,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.04,,,,,,,,,2713,410,ENSG00000100299,ENST00000547805,,ARSA,0.81,possibly_damaging,0.531,tolerated,0.19,2.38297,13.93,P15289_T409I,T,I,409,TI,T409I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.214,-3.126,1.912,0.324,S,B,0.7,0.04,12.144,,73.96,0.00400904,0.0102041,0.136716,0.877169
5725,P15289,S,Y,295,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,1913,349,ENSG00000100299,ENST00000547805,,ARSA,0.58,probably_damaging,0.995,deleterious,0,4.79114,27,P15289_S295Y,S,Y,295,SY,S295Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.474,-4.051,2.577,0.136,.,A,0.48,-0.39,1.164,,66.47,0.00330075,0,0.112562,0.618185
5726,P15289,R,C,288,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,,,,,,1891,327,ENSG00000100299,ENST00000547805,,ARSA,0.57,probably_damaging,0.989,tolerated,0.2,4.06534,20.9,P15289_R288C,R,C,288,RC,R288C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,0.291,G,A,1.66,-0.67,,,,0.00288841,0,0.0985007,0.579738
5727,P15289,T,P,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,1885,321,ENSG00000100299,ENST00000547805,,ARSA,0.56,probably_damaging,0.936,deleterious,0.01,3.95868,20.3,P15289_T286P,T,P,286,TP,T286P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.46,-3.719,2.259,0.122,G,A,0.3,-0.7,1.224,,85.6,0.0032951,0,0.11237,0.670512
5819,O00755,A,T,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,25345,38519,ENSG00000154764,ENST00000285018,CCDS2616.1,WNT7A,0.31,probably_damaging,0.921,deleterious,0.03,4.96038,28.9,O00755_A109T,A,T,109,AT,A109T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.37,-3.136,1.766,,,,,,0.455,,16.05,0.00223459,0,0.076204,0.889144
5869,Q8N335,R,C,273,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,317,156,ENSG00000152642,ENST00000282541,CCDS33729.1,GPD1L,0.78,possibly_damaging,0.88,tolerated,0.06,4.82175,27.3,Q8N335_R273C,R,C,273,RC,R273C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.128,H,A,1.66,-0.76,,,,0.0043643,0,0.148832,0.488028
5966,Q02388,G,R,2749,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.04,0,0,0,,,,,,645,179,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.93,,,,,2.52434,14.4,Q02388_G2749R,G,R,2749,GR,G2749R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,,,,0.752854
5997,P48728,H,R,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,206,496,ENSG00000145020,ENST00000427987,,AMT,0.1,probably_damaging,1,deleterious,0,4.12222,21.3,P48728_H40R,H,R,40,HR,H40R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,,,,,,,,,,,,0.00386233,0,0.131713,0.978775
6174,P08100,E,K,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,,,,,,2322,4208,ENSG00000163914,ENST00000296271,CCDS3063.1,RHO,0.43,probably_damaging,0.993,deleterious,0,5.47289,35,P08100_E150K,E,K,150,EK,E150K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.423,-2.887,1.464,0.46,H,A,1.3,1.1,3.551,,65.52,0.00373998,0,0.127541,0.863368
6309,P48431,A,T,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.16,,,,,,,,,997,384,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.6,benign,0.005,tolerated,0.12,2.04105,12.78,P48431_A191T,A,T,191,AT,A191T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.739,-2.12,0.381,,,,,,21.256,21.256,86.44,0.0055585,0,0.189556,1.01228
6408,P35913,Q,X,19,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.11,,,,,,,,,908,35,ENSG00000133256,ENST00000429163,CCDS46993.1,PDE6B,0.03,,,,,6.01047,37,P35913_Q19X,Q,X,19,QX,Q19X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000578089,0,0.019714,0.98231
6424,P35475,R,G,487,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,857,220,ENSG00000127415,ENST00000514224,,IDUA,0.93,probably_damaging,0.932,deleterious,0,4.0354,20.7,P35475_R487G,R,G,487,RG,R487G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00083087,0,0.0283344,0.953424
6430,P22607,Y,C,373,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,121,633,ENSG00000068078,ENST00000440486,CCDS3353.1,FGFR3,0.46,probably_damaging,0.906,deleterious,0,1.99019,12.61,P22607_Y373C,Y,C,373,YC,Y373C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.609,-4.779,3.17,,,,,,0.998,,92.06,0.000582936,0,0.0198793,0.834265
6431,P22607,G,C,375,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,116,638,ENSG00000068078,ENST00000440486,CCDS3353.1,FGFR3,0.47,possibly_damaging,0.73,deleterious,0.02,2.40583,14,P22607_G375C,G,C,375,GC,G375C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.555,-4.82,3.265,,,,,,1.26,,72.21,0.000523028,0,0.0178363,0.889973
6437,P22607,R,H,509,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,1584,217,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,0.73,,,deleterious,0,3.65541,18.58,P22607_R509H,R,H,509,RH,R509H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000268809,0,0.00916695,1.0021
6438,P22607,K,Q,538,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.19,,,,,,,,,1670,303,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,0.78,,,deleterious,0,3.18909,16.67,P22607_K538Q,K,Q,538,KQ,K538Q,PositiveCharge,Polar,9.74,6.24,-3.5,146,146,0,168.6,143.8,-24.8,53,,,,,,,,,,,,0.000330318,0,0.0112645,0.993914
6439,P22607,K,E,538,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.19,,,,,,,,,1670,303,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,0.78,,,deleterious,0,3.35231,17.29,P22607_K538E,K,E,538,KE,K538E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.000330318,0,0.0112645,0.993678
6449,Q18PE1,W,C,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,196,7341,ENSG00000175920,ENST00000507039,CCDS54717.1,DOK7,0.69,benign,0.002,deleterious,0.04,1.03931,9.245,Q18PE1_W176C,W,C,176,WC,W176C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,,,,0.890533
6470,O76024,T,M,699,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.17,,,,,,,,,12816,974,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.79,probably_damaging,0.989,deleterious,0,4.4137,23.4,O76024_T699M,T,M,699,TM,T699M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.149,-4.257,3.108,,,,,,,,,0.00119126,0,0.0406243,0.74148
6473,O76024,Q,X,819,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.13,,,,,,,,,13763,634,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.92,,,,,7.69646,39,O76024_Q819X,Q,X,819,QX,Q819X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0019982,0,0.0681428,0.963541
6474,O76024,L,P,829,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,13794,603,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.93,probably_damaging,0.999,deleterious,0,3.47019,17.77,O76024_L829P,L,P,829,LP,L829P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00635519,0,0.216725,0.738135
6697,O14746,T,M,1110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,29213,70,ENSG00000164362,ENST00000310581,CCDS3861.2,TERT,0.98,benign,0.321,tolerated,0.1,1.3235,10.34,O14746_T1110M,T,M,1110,TM,T1110M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-2.315,-4.441,2.126,,,,,,2.009,,71.82,0.0162198,0,0.55313,0.936555
6725,Q9HCJ1,P,L,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,,,,,,39,2725,ENSG00000154122,ENST00000284268,CCDS3885.1,ANKH,0.01,probably_damaging,0.985,deleterious,0,2.73049,15.09,Q9HCJ1_P5L,P,L,5,PL,P5L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.68,-3.289,1.609,,,,,,4.165,,88.41,0.00211019,0,0.0719619,0.952872
6726,Q9HCJ1,P,T,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.16,,,,,,,,,38,2726,ENSG00000154122,ENST00000284268,CCDS3885.1,ANKH,0.01,probably_damaging,0.974,deleterious,0,2.85088,15.5,Q9HCJ1_P5T,P,T,5,PT,P5T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.68,-3.261,1.581,,,,,,3.568,,88.41,0.00211019,0,0.0719619,0.970504
6906,Q9UH77,S,N,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,35608,26,ENSG00000146021,ENST00000506491,,KLHL3,0.69,probably_damaging,1,tolerated,0.21,5.08511,31,Q9UH77_S350N,S,N,350,SN,S350N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,,,,,,,,,,,,0.00203451,0,0.0693809,0.978191
6967,Q13428,R,X,988,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.12,,,,,,,,,8728,3792,ENSG00000070814,ENST00000427724,,TCOF1,0.7,,,,,5.85326,36,Q13428_R988X,R,X,988,RX,R988X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
7046,P35916,V,M,878,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,311,5594,ENSG00000037280,ENST00000502649,,FLT4,0.67,probably_damaging,0.993,deleterious,0,3.26687,16.96,P35916_V878M,V,M,878,VM,V878M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.113,-3.847,2.734,,,,,,,,,0.000139049,0,0.00474186,0.832239
7047,P35916,A,T,855,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.15,,,,0.001,,0.003,,,380,5663,ENSG00000037280,ENST00000502649,,FLT4,0.65,probably_damaging,1,deleterious,0,4.21313,21.9,P35916_A855T,A,T,855,AT,A855T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.013,-3.014,2.001,,,,,,,,,0.000389286,0,0.0132755,0.861043
7055,Q9BVA1,L,P,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,2330,1123,ENSG00000137285,ENST00000259818,CCDS4485.1,TUBB2B,0.51,probably_damaging,0.99,,,2.78402,15.27,Q9BVA1_L228P,L,P,228,LP,L228P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.611,-3.708,2.097,0.036,H,A,1.07,-0.82,,,,0.000147714,0,0.00503734,0.659591
7076,P15924,R,H,2834,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.19,,,,,,,,,44146,810,ENSG00000096696,ENST00000379802,CCDS4501.1,DSP,0.99,possibly_damaging,0.503,deleterious,0,4.07452,21,P15924_R2834H,R,H,2834,RH,R2834H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.447,-4.221,2.774,,,,,,0.445,,47.82,,,,0.786691
7121,P13942,R,X,1319,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.01,,,,,,,,,10589,4610,ENSG00000204248,ENST00000395197,,COL11A2,0.79,,,,,11.3815,45,P13942_R1319X,R,X,1319,RX,R1319X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000283764,0,0.00967694,0.977351
7141,Q9NZC2,W,X,44,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.08,,,,,,,,,1655,3013,ENSG00000095970,ENST00000373122,,TREM2,0.2,,,,,5.74496,36,Q9NZC2_W44X,W,X,44,WX,W44X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00448467,0,0.152937,0.916621
7342,Q15672,E,X,126,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.21,,,,,,,,,22,1478,ENSG00000122691,ENST00000242261,CCDS5367.1,TWIST1,0.62,,,,,8.23628,40,Q15672_E126X,E,X,126,EX,E126X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.0104653,0,0.356888,0.919989
7364,Q02643,E,X,72,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.05,,,,,,,,,418,237,ENSG00000106128,ENST00000326139,CCDS5432.1,GHRHR,0.17,,,,,4.72829,26.3,Q02643_E72X,E,X,72,EX,E72X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00268724,0,0.0916404,0.953272
7392,P10071,S,X,856,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.15,,,,,,,,,185949,2424,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.54,,,,,6.2903,37,P10071_S856X,S,X,856,SX,S856X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000306433,0,0.01045,0.980409
7406,P15259,R,W,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,0,,,,,257,818,ENSG00000164708,ENST00000297283,CCDS34624.1,PGAM2,0.36,possibly_damaging,0.577,tolerated,0.07,4.45086,23.7,P15259_R90W,R,W,90,RW,R90W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.582,-5.004,3.422,0.013,.,B,1.67,0.06,,,,0.00113507,0,0.0387082,0.618639
7407,P15259,E,A,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,0,0,0,,,,,,259,816,ENSG00000164708,ENST00000297283,CCDS34624.1,PGAM2,0.35,probably_damaging,0.978,deleterious,0,4.86514,27.8,P15259_E89A,E,A,89,EA,E89A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-1.404,-2.759,1.355,0.107,.,B,1.04,-0.49,,,,0.000994294,0,0.0339075,0.697598
7419,P35557,G,S,264,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.16,,,,,,,,,598,2079,ENSG00000106633,ENST00000403799,CCDS5479.1,GCK,0.57,benign,0.316,deleterious,0.02,4.53275,24.4,P35557_G264S,G,S,264,GS,G264S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.15,-1.976,0.826,0.299,S,l,0.02,-0.15,17.736,17.736,80.65,0.00151077,0,0.0515203,0.89893
7420,P35557,G,R,261,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.16,,,,,,,,,607,2088,ENSG00000106633,ENST00000403799,CCDS5479.1,GCK,0.56,probably_damaging,0.999,deleterious,0,5.49216,35,P35557_G261R,G,R,261,GR,G261R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.011,T,l,0.91,-0.85,,,,0.00132993,0,0.0453532,0.537684
7436,P20711,A,V,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.12,,,,,,,,,71,3506,ENSG00000132437,ENST00000444124,CCDS5511.1,DDC,0.19,probably_damaging,0.908,deleterious,0,3.36472,17.34,P20711_A91V,A,V,91,AV,A91V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.308,-3.148,1.84,,H,A,0.44,-0.78,1.725,,70.21,0.00275756,0,0.0940383,0.74579
7452,P08236,P,S,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,358,325,ENSG00000169919,ENST00000345660,,GUSB,0.25,possibly_damaging,0.862,deleterious,0,3.9825,20.4,P08236_P148S,P,S,148,PS,P148S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.966,-3.203,2.237,0.06,.,B,0.25,-0.44,,,,0.000327067,0,0.0111537,0.65047
7469,P14598,Q,X,98,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.15,,,,,,,,,87,1505,ENSG00000158517,ENST00000442021,,NCF1,0.67,,,,,4.18243,21.7,P14598_Q98X,Q,X,98,QX,Q98X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00212976,0,0.0726292,0.963541
7479,P04792,R,G,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,278,406,ENSG00000106211,ENST00000248553,CCDS5583.1,HSPB1,0.68,benign,0.106,deleterious,0.02,3.15714,16.56,P04792_R140G,R,G,140,RG,R140G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.184,-3.175,1.991,,,,,,,,,0.00214619,0,0.0731895,0.794418
7480,P04792,T,I,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,430,254,ENSG00000106211,ENST00000248553,CCDS5583.1,HSPB1,0.74,possibly_damaging,0.873,tolerated,0.06,3.72156,18.9,P04792_T151I,T,I,151,TI,T151I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.739,-3.668,1.929,,,,,,3.939,,91.71,0.00775393,0,0.264425,0.893059
7811,O43593,T,A,1022,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,0.095,0.25,0.016,0.08,,0.04,0.28,0.01,672,465,ENSG00000168453,ENST00000381418,CCDS6022.1,HR,0.86,benign,0,tolerated,1,-1.42002,0.021,O43593_T1022A,T,A,1022,TA,T1022A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-3.219,-1.379,-1.84,,,,,,27.188,27.188,93.86,0.00106231,0,0.0362268,1.02402
8006,P55000,W,R,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.05,,,,,,,,,69,1399,ENSG00000126233,ENST00000246515,CCDS6387.1,SLURP1,0.15,benign,0.094,tolerated,0.36,1.52863,11.06,P55000_W15R,W,R,15,WR,W15R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.84,-3.649,1.809,,,,,,2.499,,64.08,0.0146329,0.0340909,0.499011,0.853501
8266,P00568,G,R,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.07,,,,,,,,,7,6,ENSG00000106992,ENST00000373156,CCDS6881.1,AK1,0.33,probably_damaging,1,deleterious,0,5.01609,29.6,P00568_G64R,G,R,64,GR,G64R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,0.08,T,l,0.91,0.07,,,,0.00199204,0,0.0679327,0.574511
8282,P00966,R,L,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,0.006,0.015,0.002,0.005,,0.01,0.01,,31,12965,ENSG00000130707,ENST00000372394,CCDS6933.1,ASS1,0.26,benign,0.006,tolerated,0.07,2.11001,13.01,P00966_R108L,R,L,108,RL,R108L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.958,-3.308,1.35,0.556,H,A,1.75,0.84,4.102,,86.89,0.00499458,0,0.170326,0.911411
8323,P20908,G,E,1489,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.11,,,,,,,,,178361,24706,ENSG00000130635,ENST00000371817,CCDS6982.1,COL5A1,0.81,,,deleterious,0,4.07528,21,P20908_G1489E,G,E,1489,GE,G1489E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.921,-3.4,2.479,,,,,,,,,0.000755721,0,0.0257716,0.806888
8408,P46019,S,X,1049,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.09,,,,,,,,,665,2153,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.85,,,,,11.9208,45,P46019_S1049X,S,X,1049,SX,S1049X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00231805,0.00537634,0.0790503,0.962132
8415,P46019,H,P,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,33436,58863,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.11,probably_damaging,0.999,deleterious,0,5.05148,30,P46019_H132P,H,P,132,HP,H132P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,-0.776,-3.959,3.183,,,,,,,,,0.000102268,0,0.00348754,0.812632
8416,P46019,H,Y,132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.08,,,,,,,,,33435,58864,ENSG00000044446,ENST00000379942,CCDS14190.1,PHKA2,0.11,probably_damaging,0.998,deleterious,0,5.78672,36,P46019_H132Y,H,Y,132,HY,H132Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-0.776,-3.342,2.566,,,,,,,,,0.000102268,0,0.00348754,0.832319
8468,P51843,Y,X,271,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.65,0.11,,,,,,,,,63,2730,ENSG00000169297,ENST00000453287,,NR0B1,0.68,,,,,5.80384,36,P51843_Y271X,Y,X,271,YX,Y271X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00310593,0,0.105919,0.945391
8847,Q00604,R,P,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.13,,,,,,,,,200,250,ENSG00000124479,ENST00000378062,CCDS14262.1,NDP,0.68,probably_damaging,0.972,deleterious,0.01,4.25294,22.2,Q00604_R90P,R,P,90,RP,R90P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.715,-3.572,1.857,,,,,,1.652,,60.9,0.0171344,0,0.584319,0.830588
9706,P30518,R,C,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.65,0.09,,,,,,,,,702,966,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.28,probably_damaging,0.997,deleterious,0,2.79885,15.32,P30518_R104C,R,C,104,RC,R104C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.00225928,0,0.0770462,0.755073
8,Q9UP52,R,Q,455,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.07,0.002,0.001,0.003,0.001,,,,0.004,2782,1677,ENSG00000106327,ENST00000462107,CCDS34707.1,TFR2,0.57,benign,0.172,tolerated,0.26,2.54711,14.48,Q9UP52_R455Q,R,Q,455,RQ,R455Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.35,-2.191,0.841,,,,,,18.642,18.642,87.14,0.00127457,0,0.0504064,0.988135
36,Q9HC10,R,W,822,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.12,0.019,0.01,0.023,0.01,,0.01,0.004,0.02,812,20027,ENSG00000115155,ENST00000403946,,OTOF,0.41,possibly_damaging,0.894,deleterious,0,3.88153,19.73,Q9HC10_R822W,R,W,822,RW,R822W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.181,-5.639,3.458,,,,,,0.614,,92.54,,,,0.820733
40,Q9HC10,V,M,575,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.07,0.008,0.001,0.012,0.005,,0.01,,0.01,77813,23662,ENSG00000115155,ENST00000403946,,OTOF,0.29,benign,0.319,tolerated,0.1,2.5482,14.48,Q9HC10_V575M,V,M,575,VM,V575M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.413,-2.359,0.946,,,,,,12.547,12.547,80.67,,,,0.953413
75,Q96RK4,E,A,3,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.23,,,,,,,,,3,10452,ENSG00000140463,ENST00000268057,CCDS10246.1,BBS4,0.01,benign,0.041,deleterious,0.04,1.67317,11.55,Q96RK4_E3A,E,A,3,EA,E3A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-1.489,-2.374,0.885,,,,,,21.766,21.766,92.87,0.00105064,0,0.0415505,0.959621
144,Q15049,L,M,309,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.11,,,,,,,,,8648,2707,ENSG00000100427,ENST00000311597,CCDS14083.1,MLC1,0.82,benign,0.017,tolerated,1,-1.85493,0.009,Q15049_L309M,L,M,309,LM,L309M,Hydrophobic,Hydrophobic,9.71,5.74,-3.97,131,149,18,166.7,162.9,-3.8,15,-1.678,-1.631,-0.047,,,,,,13.748,13.748,84.88,0.0107202,0,0.423963,0.994312
162,Q02643,A,T,57,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.07,0.131,0.274,0.057,0.12,0.05,0.05,0.33,0.06,463,192,ENSG00000106128,ENST00000326139,CCDS5432.1,GHRHR,0.13,benign,0.001,tolerated,0.43,0.562074,7.039,Q02643_A57T,A,T,57,AT,A57T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-2.675,-2.253,-0.422,,,,,,14.65,14.65,90.78,0.0025633,0,0.101373,1.02829
184,P50895,T,A,539,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.11,0.338,0.409,0.301,0.27,0.1,0.24,0.42,0.3,10406,867,ENSG00000187244,ENST00000391955,CCDS42575.1,BCAM,0.92,benign,0.001,tolerated,0.73,0.247523,5.337,P50895_T539A,T,A,539,TA,T539A,Polar,Hydrophobic,5.6,6,0.4,119,89,-30,116.1,88.6,-27.5,58,-2.153,-2.187,0.034,,,,,,21.632,21.632,71.82,0.00681906,0.011236,0.269679,1.05934
221,P28300,R,Q,158,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.24,0.175,0.178,0.174,0.17,0.2,0.17,0.15,0.15,41,6993,ENSG00000113083,ENST00000231004,CCDS4129.1,LOX,0.38,benign,0,tolerated,0.39,-0.270433,2.703,P28300_R158Q,R,Q,158,RQ,R158Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.71,-2.12,0.41,,,,,,19.803,19.803,92.57,0.000984023,0,0.038916,1.01209
249,P21817,L,P,3601,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.15,,,,,,,,,94077,59788,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.72,,,,,1.4439,10.77,P21817_L3601P,L,P,3601,LP,L3601P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
343,P01303,L,P,7,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.15,0.027,0.009,0.036,0.02,,0.01,0.01,0.04,153,6549,ENSG00000122585,ENST00000405982,CCDS5387.1,NPY,0.07,probably_damaging,0.912,tolerated,0.1,3.42396,17.58,P01303_L7P,L,P,7,LP,L7P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00697409,0,0.27581,0.755745
362,O95255,L,H,953,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.66,0.08,0,0,0,,,,,,53652,19650,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.63,probably_damaging,0.998,deleterious,0,3.92152,19.95,O95255_L953H,L,H,953,LH,L953H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.614,-5.098,3.484,,,,,,1.885,,60.75,0.00062525,0,0.0247273,0.847843
10,B1AK53,S,R,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,209,24,ENSG00000187017,ENST00000434576,,ESPN,0.34,possibly_damaging,0.521,deleterious,0.01,2.70146,14.99,B1AK53_S63R,S,R,63,SR,S63R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,,,,,,,,,,,,,,,0.94527
11,B1AK53,D,N,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,284,52,ENSG00000187017,ENST00000434576,,ESPN,0.47,probably_damaging,0.999,deleterious,0,5.54724,35,B1AK53_D88N,D,N,88,DN,D88N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,,,,,,,,,,,,,,,0.958385
75,P51801,W,X,610,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.03,,,,,,,,,3185,1801,ENSG00000184908,ENST00000375679,CCDS168.1,CLCNKB,0.89,,,,,5.09179,31,P51801_W610X,W,X,610,WX,W610X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00609971,0.012987,0.208013,0.918109
103,P05186,P,L,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,,,,,,,,,9053,1077,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.07,probably_damaging,1,deleterious,0,4.92257,28.5,P05186_P31L,P,L,31,PL,P31L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.00334375,0,0.114029,0.957943
146,Q15466,A,S,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.04,,,,,,,,,1931,547,ENSG00000131910,ENST00000254227,CCDS291.1,NR0B2,0.76,probably_damaging,0.993,deleterious,0.01,5.4834,35,Q15466_A195S,A,S,195,AS,A195S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-0.919,-2.811,1.892,,,,,,,,,0.00368642,0,0.125714,0.87146
186,Q8N6F1,Q,E,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,246,4900,ENSG00000164007,ENST00000296387,CCDS471.1,CLDN19,0.25,probably_damaging,0.963,deleterious,0,4.80519,27.2,Q8N6F1_Q57E,Q,E,57,QE,Q57E,Polar,negativeCharge,6.24,3.22,-3.02,146,147,1,143.8,138.4,-5.4,29,-1.618,-2.705,1.087,,,,,,4.143,,79.46,0.00366813,0,0.125091,0.983691
190,Q96PL5,E,K,47,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,0,0,0.001,0.001,,0.003,,0.003,906,14163,ENSG00000164010,ENST00000372517,CCDS475.1,ERMAP,0.1,benign,0.019,tolerated,0.21,2.26615,13.53,Q96PL5_E47K,E,K,47,EK,E47K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.596,-1.937,0.341,,,,,,21.758,21.758,78.53,0.00127982,0,0.0436445,1.00999
192,Q96PL5,P,A,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,0.001,0,0.001,,,,,,945,14124,ENSG00000164010,ENST00000372517,CCDS475.1,ERMAP,0.13,benign,0.071,tolerated,0.77,-0.567137,1.443,Q96PL5_P60A,P,A,60,PA,P60A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.951,-2.258,0.307,,,,,,22.624,22.624,79.79,0.00083221,0,0.0283801,1.01861
363,O43175,V,M,391,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.05,,,,,,,,,3408,1344,ENSG00000092621,ENST00000369407,,PHGDH,0.78,possibly_damaging,0.744,deleterious,0,4.4796,24,O43175_V391M,V,M,391,VM,V391M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.288,-3.87,2.582,,,,,,1.919,,51.97,0.00146963,0,0.0501173,0.868569
419,P02545,L,R,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.19,,,,,,,,,450,125,ENSG00000160789,ENST00000347559,,LMNA,0.13,probably_damaging,0.999,deleterious,0,5.02771,29.7,P02545_L85R,L,R,85,LR,L85R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-0.843,-4.172,3.329,,,,,,1.224,,38.7,0.000709649,0,0.0242005,0.83346
422,P02545,E,K,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,3938,3706,ENSG00000160789,ENST00000392353,,LMNA,0.16,possibly_damaging,0.62,tolerated,0.06,4.76046,26.7,P02545_E80K,E,K,80,EK,E80K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00164643,0,0.0561467,0.912331
437,P02545,R,C,446,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,260,65,ENSG00000160789,ENST00000392353,,LMNA,0.91,probably_damaging,0.952,deleterious,0,4.06623,20.9,P02545_R446C,R,C,446,RC,R446C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00137932,0,0.0470375,0.879238
438,P02545,A,T,448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,254,59,ENSG00000160789,ENST00000392353,,LMNA,0.91,benign,0.06,tolerated,0.58,1.40448,10.63,P02545_A448T,A,T,448,AT,A448T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00237717,0,0.0810664,0.977688
449,P04629,M,V,551,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,2373,327,ENSG00000198400,ENST00000392302,CCDS30890.1,NTRK1,0.72,probably_damaging,0.998,deleterious,0,4.65013,25.6,P04629_M551V,M,V,551,MV,M551V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,,,,,,,,,,,,0.00157474,0,0.053702,0.915706
628,Q6P1J9,R,X,9,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.21,,,,,,,,,208,15949,ENSG00000134371,ENST00000367435,CCDS1382.1,CDC73,0.02,,,,,7.5865,39,Q6P1J9_R9X,R,X,9,RX,R9X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00129692,0,0.0442276,0.900587
722,O00292,R,X,314,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.11,,,,,,,,,45,998,ENSG00000143768,ENST00000366820,CCDS1549.1,LEFTY2,0.86,,,,,5.05355,30,O00292_R314X,R,X,314,RX,R314X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00540919,0,0.184465,0.933136
729,Q8NI60,R,W,213,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,38,11805,ENSG00000163050,ENST00000366779,CCDS1557.1,ADCK3,0.33,probably_damaging,1,deleterious,0,4.42605,23.5,Q8NI60_R213W,R,W,213,RW,R213W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.000989897,0,0.0337575,0.731626
736,Q5T442,R,X,240,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.15,,,,,,,,,8624,1351,ENSG00000198835,ENST00000366714,CCDS1569.1,GJC2,0.55,,,,,4.14404,21.4,Q5T442_R240X,R,X,240,RX,R240X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00203025,0,0.0692358,0.959275
740,P68133,E,A,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,2469,376,ENSG00000143632,ENST00000366683,,ACTA1,0.86,probably_damaging,0.999,,,1.27094,10.15,P68133_E248A,E,A,248,EA,E248A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,,,,,,,,,,,,0.000451733,0,0.015405,0.980237
748,P68133,I,M,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,1499,1346,ENSG00000143632,ENST00000366684,CCDS1578.1,ACTA1,0.37,possibly_damaging,0.867,,,0.951472,8.88,P68133_I138M,I,M,138,IM,I138M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-2.039,-3.633,1.594,0.233,E,B,0.07,0,,,,0.000483555,0,0.0164902,0.891178
751,P68133,G,R,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.21,,,,,,,,,1028,1817,ENSG00000143632,ENST00000366683,,ACTA1,0.06,probably_damaging,0.998,,,2.77264,15.23,P68133_G17R,G,R,17,GR,G17R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.527,-3.775,2.248,0.103,S,b,0.91,0,0.52,,32.63,0.000294741,0,0.0100513,0.607745
821,Q96SD1,H,D,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,111,19185,ENSG00000152457,ENST00000378278,CCDS31149.1,DCLRE1C,0.05,probably_damaging,1,deleterious,0,5.52392,35,Q96SD1_H35D,H,D,35,HD,H35D,PositiveCharge,negativeCharge,7.59,5.05,-2.54,155,133,-22,153.2,111.1,-42.1,81,-1.124,-3.324,2.2,,,,,,,,,0.000396373,0,0.0135171,0.833797
824,P08670,E,K,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.19,,,,,,,,,132,3,ENSG00000026025,ENST00000224237,CCDS7120.1,VIM,0.32,benign,0.255,deleterious,0.03,4.61623,25.2,P08670_E151K,E,K,151,EK,E151K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.386,-2.947,1.561,0.481,H,A,1.3,1.47,3.063,,67.17,0.00265279,0,0.0904655,0.873291
836,P07949,C,R,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,36569,946,ENSG00000165731,ENST00000498820,,RET,0.74,probably_damaging,0.923,deleterious,0,3.57814,18.23,P07949_C135R,C,R,135,CR,C135R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,0.000486703,0,0.0165976,0.968092
837,P07949,C,G,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,36569,946,ENSG00000165731,ENST00000498820,,RET,0.74,possibly_damaging,0.786,deleterious,0,3.86732,19.65,P07949_C135G,C,G,135,CG,C135G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,,,,,,,,,,,,0.000486703,0,0.0165976,0.976727
895,P14222,R,W,225,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,34,1699,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.41,possibly_damaging,0.896,deleterious,0.02,3.92601,19.97,P14222_R225W,R,W,225,RW,R225W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.854,-5.237,3.383,,,,,,0.499,,75.14,0.00242419,0,0.0826697,0.848218
919,P07602,C,G,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,,,,,,,,,491,11,ENSG00000197746,ENST00000373120,,PSAP,0.68,probably_damaging,1,deleterious,0,3.69872,18.79,P07602_C382G,C,G,382,CG,C382G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.111,-3.439,2.328,,,,,,,,,0.00160195,0,0.0546297,0.72201
926,Q7LGC8,L,P,259,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.19,,,,,,,,,43442,5758,ENSG00000122863,ENST00000373115,CCDS7312.1,CHST3,0.54,probably_damaging,0.986,deleterious,0,3.75293,19.06,Q7LGC8_L259P,L,P,259,LP,L259P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.423,-3.895,2.472,,,,,,0.992,,55.32,0.00247927,0,0.0845484,0.837142
944,O75112,S,L,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,0,0,0,0.001,,0.003,,0.003,12988,18362,ENSG00000122367,ENST00000372056,CCDS53549.1,LDB3,0.47,benign,0.159,deleterious,0.02,1.34697,10.43,O75112_S189L,S,L,189,SL,S189L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-2.136,-2.614,0.478,,,,,,10.795,10.795,38.1,0.000525164,0,0.0179092,0.970604
1030,Q02962,G,S,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,1855,791,ENSG00000075891,ENST00000361791,CCDS7499.1,PAX2,0.19,probably_damaging,0.999,deleterious,0,5.8783,36,Q02962_G76S,G,S,76,GS,G76S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.008,-2.842,1.834,0.713,S,l,0.02,-0.87,,,,0.0011807,0,0.0402643,0.819056
1039,P55075,K,E,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.2,,,,,,,,,1130,4447,ENSG00000107831,ENST00000344255,CCDS7517.1,FGF8,0.38,benign,0.332,deleterious,0.01,4.39478,23.3,P55075_K89E,K,E,89,KE,K89E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.394,-2.87,1.476,0.563,S,l,1.3,0.96,2.755,,52.79,0.00481911,0,0.164342,0.787934
1041,P55075,P,L,26,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,0,0,0.001,0.001,,,,0.001,692,4885,ENSG00000107831,ENST00000344255,CCDS7517.1,FGF8,0.11,benign,0.006,tolerated,0.18,0.525337,6.846,P55075_P26L,P,L,26,PL,P26L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.874,-2.18,0.306,,,,,,4.996,4.996,89.7,0.00245823,0.00483092,0.0838307,0.994471
1073,O95817,P,L,151,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,304,1649,ENSG00000151929,ENST00000450186,,BAG3,0.46,probably_damaging,0.999,deleterious,0,5.34807,34,O95817_P151L,P,L,151,PL,P151L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
1149,Q9H936,P,L,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,2747,17,ENSG00000177542,ENST00000531214,CCDS7715.1,SLC25A22,0.64,probably_damaging,0.997,deleterious,0,3.48328,17.82,Q9H936_P206L,P,L,206,PL,P206L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.356,-1.973,0.617,,,,,,14.416,14.416,38.39,0.00204509,0,0.0697418,0.974768
1165,F8WCM5,R,C,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,163,957,ENSG00000129965,ENST00000397270,CCDS41598.1,INS-IGF2,0.28,possibly_damaging,0.882,deleterious,0,3.36576,17.34,F8WCM5_R55C,R,C,55,RC,R55C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.426,-4.894,3.468,,,,,,0.793,,43.5,0.00241757,0,0.0824441,0.796767
1174,F8WCM5,R,C,6,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.04,,,,,,,,,16,1104,ENSG00000129965,ENST00000397270,CCDS41598.1,INS-IGF2,0.03,,,deleterious,0,1.11564,9.55,F8WCM5_R6C,R,C,6,RC,R6C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.013,-2.973,0.96,,,,,,31.414,31.414,79,0.00297954,0,0.101608,0.934633
1181,P07101,L,P,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,211,1002,ENSG00000180176,ENST00000352909,CCDS7730.1,TH,0.41,benign,0.266,tolerated,0.11,1.67407,11.56,P07101_L205P,L,P,205,LP,L205P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.000562327,0,0.0191765,0.981753
1182,P51787,P,L,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.28,,,,,,,,,126,82529,ENSG00000053918,ENST00000155840,CCDS7736.1,KCNQ1,0.17,probably_damaging,0.999,deleterious,0.01,4.88746,28.1,P51787_P117L,P,L,117,PL,P117L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,0.000783439,0,0.0267169,0.817672
1352,P19544,Y,X,177,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.16,,,,,,,,,531,2237,ENSG00000184937,ENST00000332351,CCDS7878.2,WT1,0.34,,,,,6.82744,38,P19544_Y177X,Y,X,177,YX,Y177X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00125932,0,0.0429455,0.8948
1412,Q13702,L,P,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,0,0,0,,,,,,57,3191,ENSG00000165917,ENST00000298854,CCDS7936.1,RAPSN,0.69,possibly_damaging,0.7,deleterious,0.03,4.33476,22.8,Q13702_L283P,L,P,283,LP,L283P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.409,-1.974,0.565,,,,,,40.828,40.828,82.52,0.0034831,0,0.118781,0.997305
1459,Q96S37,G,V,140,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.03,,,,,,,,,8424,1865,ENSG00000197891,ENST00000473690,CCDS8076.1,SLC22A12,0.42,possibly_damaging,0.818,deleterious,0,4.32617,22.7,Q96S37_G140V,G,V,140,GV,G140V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,,,,,,,,,,,,0.0032861,0,0.112063,0.945923
1479,O00255,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.66,0.07,,,,,,,,,2139,442,ENSG00000133895,ENST00000377321,,MEN1,,,,,,4.31911,22.7,O00255_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
1490,O95967,R,C,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,10,42,ENSG00000172638,ENST00000307998,CCDS8116.1,EFEMP2,0.63,probably_damaging,0.995,deleterious,0,3.65828,18.6,O95967_R279C,R,C,279,RC,R279C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.507,-5.447,3.94,,,,,,0.898,,57.11,0.00103983,0,0.0354604,0.803784
1515,O00170,Y,X,268,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.07,,,,,,,,,1468,151,ENSG00000110711,ENST00000279146,CCDS8168.1,AIP,0.81,,,,,4.94858,28.8,O00170_Y268X,Y,X,268,YX,Y268X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00741048,0,0.252713,0.903916
1517,O00170,R,Q,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,0.001,0,0.001,,,,,,1575,193,ENSG00000110711,ENST00000279146,CCDS8168.1,AIP,0.92,benign,0.002,deleterious,0.01,3.36429,17.34,O00170_R304Q,R,Q,304,RQ,R304Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.724,-2.925,1.201,,,,,,9.724,9.724,18.48,0.0115364,0,0.393415,0.864243
1552,O75197,N,D,1121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,0.003,0.01,,,,112542,24047,ENSG00000162337,ENST00000294304,CCDS8181.1,LRP5,0.69,possibly_damaging,0.479,tolerated,0.06,4.17678,21.6,O75197_N1121D,N,D,1121,ND,N1121D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.427,-2.899,1.472,,,,,,1.353,,27.62,0.000189671,0,0.00646817,0.952872
1592,Q9UBM7,G,S,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,3385,239,ENSG00000172893,ENST00000533800,,DHCR7,0.72,probably_damaging,0.944,deleterious,0,4.97318,29.1,Q9UBM7_G160S,G,S,160,GS,G160S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00384082,0,0.13098,0.96591
1674,P53634,W,S,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.19,,,,,,,,,144,2821,ENSG00000109861,ENST00000227266,CCDS8282.1,CTSC,0.08,probably_damaging,0.992,deleterious,0,5.09041,31,P53634_W39S,W,S,39,WS,W39S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.111,-3.653,2.542,,E,B,0.74,-0.32,,,,0.00062103,0,0.0211784,0.525721
1849,Q96MS0,L,P,5,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,205,15876,ENSG00000154134,ENST00000397801,CCDS44755.1,ROBO3,0,probably_damaging,0.996,deleterious,0,3.83765,19.49,Q96MS0_L5P,L,P,5,LP,L5P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00063435,0,0.0216326,0.807506
1926,P04275,G,R,550,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,66746,64050,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.2,probably_damaging,0.999,deleterious,0,3.68929,18.74,P04275_G550R,G,R,550,GR,G550R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.43,-4.149,2.719,,,,,,1.633,,41.24,6.54e-05,0,0.00223157,0.822901
1927,P04275,N,S,528,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,66681,64115,ENSG00000110799,ENST00000261405,CCDS8539.1,VWF,0.19,probably_damaging,0.999,deleterious,0,4.68999,25.9,P04275_N528S,N,S,528,NS,N528S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.137,-2.654,1.517,,,,,,2.927,0.813,41.24,7.84e-05,0,0.00267303,0.940257
1956,Q9GZX7,L,P,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,1692,1040,ENSG00000111732,ENST00000537228,,AICDA,0.56,probably_damaging,1,deleterious,0,4.38109,23.1,Q9GZX7_L106P,L,P,106,LP,L106P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,,,,,,,,,0.00273556,0,0.0932882,0.77051
2026,P02458,R,G,992,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,875,2967,ENSG00000139219,ENST00000380518,CCDS41778.1,COL2A1,0.67,,,deleterious,0.01,3.17217,16.61,P02458_R992G,R,G,992,RG,R992G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.919,-3.44,1.521,,,,,0,0.764,,9.75,0.000677832,0,0.0231155,0.765887
2068,P41181,G,V,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,375,384,ENSG00000167580,ENST00000550862,,AQP2,0.41,probably_damaging,0.996,deleterious,0,4.25658,22.2,P41181_G100V,G,V,100,GV,G100V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.204,-3.586,2.382,,H,A,0.73,-0.38,9.172,,67.16,0.00231237,0,0.0788567,0.635058
2071,P41181,A,T,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,0,0,0,,,,,,1893,407,ENSG00000167580,ENST00000550862,,AQP2,0.6,probably_damaging,0.934,deleterious,0,4.73168,26.4,P41181_A147T,A,T,147,AT,A147T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.027,-3.416,2.389,0.019,H,A,0.22,-0.43,5.88,,92.99,0.00312855,0,0.10669,0.734894
2084,P37023,C,Y,358,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,35,922,ENSG00000139567,ENST00000550683,,ACVRL1,0.69,probably_damaging,0.999,deleterious,0,4.57732,24.9,P37023_C358Y,C,Y,358,CY,C358Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,,,,0.933113
2173,Q8TAM1,R,P,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,139,783,ENSG00000179941,ENST00000393262,CCDS9014.2,BBS10,0.05,probably_damaging,0.945,tolerated,0.15,4.26813,22.3,Q8TAM1_R34P,R,P,34,RP,R34P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.386,-3.796,2.41,,,,,,1.224,,66.53,0.000951765,0,0.0324571,0.832914
2244,Q03426,P,L,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,38,19,ENSG00000110921,ENST00000546277,,MVK,0.82,benign,0.092,deleterious,0.02,1.96565,12.53,Q03426_P165L,P,L,165,PL,P165L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.738,-3.2,1.462,0.639,.,a,1.07,1.05,14.296,,80.81,0.00425538,0,0.145117,0.918041
2299,P16219,G,S,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,11182,763,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.22,probably_damaging,1,deleterious,0,4.62656,25.3,P16219_G90S,G,S,90,GS,G90S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,0.149,S,b,0.02,0.5,,,,0.000359935,0,0.0122745,0.766468
2301,P16219,R,C,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,0.001,0,0.001,,,,,,11233,712,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.26,probably_damaging,0.999,deleterious,0,3.84408,19.53,P16219_R107C,R,C,107,RC,R107C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,0.162,H,A,1.66,0.44,,,,0.00315216,0.00327869,0.107495,0.649192
2306,P16219,S,L,353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,0,0,0,,,,,,13307,427,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.86,probably_damaging,1,deleterious,0,4.215,21.9,P16219_S353L,S,L,353,SL,S353L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.348,-3.094,1.746,0.008,H,A,0.82,-1.01,,,,0.00276267,0,0.0942128,0.662497
2331,Q9Y6H8,N,S,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.17,,,,,,,,,17949,4846,ENSG00000121743,ENST00000241125,CCDS9289.1,GJA3,0.14,probably_damaging,0.944,deleterious,0,4.63515,25.4,Q9Y6H8_N63S,N,S,63,NS,N63S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-0.975,-2.811,1.836,,,,,,,,,0.000502871,0,0.0171489,0.910731
2569,P22735,G,D,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,0.001,,0.01,,0.001,1109,88,ENSG00000092295,ENST00000558074,,TGM1,0.7,benign,0.09,deleterious,0,2.38832,13.94,P22735_G94D,G,D,94,GD,G94D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.15,-3.349,2.199,,,,,,2.677,,91.68,0.000146292,0,0.00498887,0.877791
2571,P55316,W,X,255,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.24,,,,,,,,,963,1621,ENSG00000176165,ENST00000313071,CCDS9636.1,FOXG1,0.52,,,,,7.21203,38,P55316_W255X,W,X,255,WX,W255X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
2590,P55771,R,W,26,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.19,,,,,,,,,394,176,ENSG00000198807,ENST00000402703,CCDS9662.1,PAX9,0.08,probably_damaging,0.996,deleterious,0,3.70754,18.83,P55771_R26W,R,W,26,RW,R26W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,0.051,H,A,1.67,-1.06,,,,0.000581638,0,0.0198351,0.537769
2591,P55771,R,P,28,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.2,,,,,,,,,401,169,ENSG00000198807,ENST00000402703,CCDS9662.1,PAX9,0.08,probably_damaging,0.998,deleterious,0,4.80243,27.1,P55771_R28P,R,P,28,RP,R28P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.398,-3.615,2.217,0.479,H,A,0.68,-0.82,,,,0.00119513,0,0.0407564,0.677772
2651,P11277,A,G,2018,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.04,,,,,,,,,385,505,ENSG00000070182,ENST00000389721,CCDS32100.1,SPTB,0.94,benign,0.055,deleterious,0.02,3.75572,19.07,P11277_A2018G,A,G,2018,AG,A2018G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.088,-2.685,1.597,0.039,H,A,0.29,-0.71,,,,0.0024148,0,0.0823495,0.751591
2797,P26440,L,P,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,123,5398,ENSG00000128928,ENST00000249760,,IVD,0.1,probably_damaging,0.999,deleterious,0.03,4.55022,24.6,P26440_L42P,L,P,42,LP,L42P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,0.029,.,B,1.07,-0.41,,,,0.0020492,0,0.069882,0.580897
2820,P16452,R,Q,233,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,852,479,ENSG00000166947,ENST00000568508,,EPB42,0.43,probably_damaging,1,deleterious,0,3.95201,20.2,P16452_R233Q,R,Q,233,RQ,R233Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00142115,0,0.048464,0.917458
3004,P69905,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.66,0.17,,,,,,,,,20,550,ENSG00000188536,ENST00000251595,CCDS10398.1,HBA2,0.01,probably_damaging,0.999,deleterious,0,1.84316,12.12,P69905_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.949,-2.352,0.403,,,,,,12.296,12.296,71.13,0.00397499,0,0.135555,1.0981
3016,P51798,Q,X,531,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.08,,,,,,,,,19,990,ENSG00000103249,ENST00000448525,CCDS45378.1,CLCN7,0.68,,,,,6.63025,37,P51798_Q531X,Q,X,531,QX,Q531X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00190707,0,0.0650349,0.963541
3031,P98161,R,X,4228,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.09,,,,,,,,,328,239,ENSG00000008710,ENST00000262304,CCDS32369.1,PKD1,0.98,,,,,21.6671,54,P98161_R4228X,R,X,4228,RX,R4228X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3034,P98161,Q,X,4042,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.11,,,,,,,,,152,78,ENSG00000008710,ENST00000262304,CCDS32369.1,PKD1,0.94,,,,,20.2147,53,P98161_Q4042X,Q,X,4042,QX,Q4042X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3040,Q99758,Q,P,372,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,5726,280,ENSG00000167972,ENST00000563816,,ABCA3,0.91,probably_damaging,0.915,deleterious,0.01,3.88125,19.73,Q99758_Q372P,Q,P,372,QP,Q372P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,,,,,,,,,,,,,,,0.952768
3087,O95255,G,S,1501,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.05,,,,,,,,,5633,11,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,1,probably_damaging,0.994,deleterious,0.01,5.01938,29.6,O95255_G1501S,G,S,1501,GS,G1501S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.01,-2.478,1.468,,,,,,11.867,11.867,53.96,0.00582167,0,0.198531,0.926898
3090,O95255,K,X,1474,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.04,,,,,,,,,5552,92,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.98,,,,,9.33018,42,O95255_K1474X,K,X,1474,KX,K1474X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.0033902,0,0.115613,0.955443
3098,O95255,E,K,1400,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,1139,4505,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.93,possibly_damaging,0.498,deleterious,0,2.98317,15.95,O95255_E1400K,E,K,1400,EK,E1400K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.437,-3.178,1.741,,,,,,9.881,9.881,19.96,0.000760553,0,0.0259364,0.926386
3099,O95255,R,X,1398,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.07,,,,,,,,,1133,4511,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.93,,,,,8.77625,41,O95255_R1398X,R,X,1398,RX,R1398X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000745575,0,0.0254257,0.977351
3100,O95255,K,N,1394,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,1123,4521,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.93,benign,0.178,deleterious,0,1.63463,11.42,O95255_K1394N,K,N,1394,KN,K1394N,PositiveCharge,Polar,9.74,5.47,-4.27,146,132,-14,168.6,114.1,-54.5,94,-2.406,-3.453,1.047,,,,,,12.391,12.391,19.96,0.000704628,0,0.0240293,0.929179
3106,O95255,I,T,1342,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,888,4756,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.89,probably_damaging,0.922,deleterious,0,3.74776,19.03,O95255_I1342T,I,T,1342,IT,I1342T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.417,-3.691,2.274,,,,,,4.178,,66.53,0.000788566,0,0.0268917,0.869453
3115,O95255,G,R,1302,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,767,4877,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.87,probably_damaging,0.993,deleterious,0,3.91482,19.91,O95255_G1302R,G,R,1302,GR,G1302R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.605,-4.125,3.52,,,,,,1.21,,59.35,0.000524972,0,0.0179026,0.825563
3117,O95255,G,S,1299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.05,,,,,,,,,758,4886,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.86,probably_damaging,0.998,deleterious,0,4.90398,28.3,O95255_G1299S,G,S,1299,GS,G1299S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.555,-3.311,2.756,,,,,,3.514,,41.72,0.000567649,0,0.019358,0.848552
3118,O95255,V,F,1298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.05,,,,,,,,,755,4889,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.86,probably_damaging,0.993,deleterious,0,4.00519,20.5,O95255_V1298F,V,F,1298,VF,V1298F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-0.929,-4.076,3.147,,,,,,5.478,,57.49,0.00071257,0,0.0243001,0.840031
3160,O95255,F,C,952,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,53649,19653,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.63,probably_damaging,0.992,deleterious,0,3.76111,19.1,O95255_F952C,F,C,952,FC,F952C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.835,-5.118,3.283,,,,,,1.501,,80.44,0.000769142,0,0.0262293,0.820304
3164,O95255,R,R,940,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.66,0.05,,,,,,,,,53614,19688,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.63,,,,,-0.71409,0.927,O95255_R940R,R,R,940,RR,R940R,PositiveCharge,PositiveCharge,6.34,6.34,0,174,174,0,173.4,173.4,0,0,,,,,,,,,,,,0.000746132,0,0.0254446,1.00426
3195,O95255,L,P,677,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,40591,1139,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.45,probably_damaging,0.984,deleterious,0,4.34852,22.9,O95255_L677P,L,P,677,LP,L677P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-0.67,-4.255,3.585,0.263,T,A,1.07,-0.28,1.69,,92.75,0.000137877,0,0.00470188,0.760235
3237,P07911,G,C,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,1849,1,ENSG00000169344,ENST00000577168,,UMOD,0.95,probably_damaging,0.992,deleterious,0,2.5625,14.53,P07911_G131C,G,C,131,GC,G131C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.931,-4.876,3.945,,,,,,0.227,,12.19,0.000474276,0,0.0161738,0.768079
3293,P31639,W,X,440,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.17,,,,,,,,,427,553,ENSG00000140675,ENST00000330498,CCDS10714.1,SLC5A2,0.65,,,,,6.54697,37,P31639_W440X,W,X,440,WX,W440X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000242911,0,0.00828376,0.956807
3331,Q9BXC9,Y,X,24,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.16,0,0,0,0.001,,,,0.001,170,9787,ENSG00000125124,ENST00000245157,CCDS32451.1,BBS2,0.03,,,,,9.44399,42,Q9BXC9_Y24X,Y,X,24,YX,Y24X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00116472,0,0.0397195,0.902575
3353,P04180,T,M,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,2816,132,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.84,probably_damaging,0.97,deleterious,0,3.20092,16.72,P04180_T371M,T,M,371,TM,T371M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.204,-4.35,3.146,,,,,,1.237,,82.73,0.00191402,0,0.065272,0.863064
3363,P04180,Y,X,107,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.11,0,0,0,,,,,,37,508,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.24,,,,,3.80098,19.3,P04180_Y107X,Y,X,107,YX,Y107X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00243748,0,0.0831229,0.953982
3378,Q9GZX3,Y,C,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.2,,,,,,,,,3604,1072,ENSG00000183196,ENST00000390664,CCDS10918.1,CHST6,0.28,probably_damaging,1,deleterious,0,3.37401,17.38,Q9GZX3_Y110C,Y,C,110,YC,Y110C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.374,-4.815,3.441,,,,,,0.543,,50.13,0.00170911,0,0.0582842,0.804756
3379,Q9GZX3,C,G,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.19,,,,,,,,,3629,1097,ENSG00000183196,ENST00000390664,CCDS10918.1,CHST6,0.26,probably_damaging,0.997,deleterious,0,3.89122,19.78,Q9GZX3_C102G,C,G,102,CG,C102G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.111,-3.439,2.328,,,,,,,,,0.00101844,0,0.0347311,0.734692
3404,P13498,G,R,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,2212,410,ENSG00000051523,ENST00000567174,,CYBA,0.11,probably_damaging,0.984,deleterious,0,2.99535,15.99,P13498_G24R,G,R,24,GR,G24R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.004,-3.955,2.951,,,,,,2.141,,51.79,0.00556388,0,0.18974,0.798978
3409,P07741,D,V,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,152,625,ENSG00000198931,ENST00000426324,CCDS45546.1,APRT,0.49,possibly_damaging,0.628,deleterious,0,3.61071,18.38,P07741_D65V,D,V,65,DV,D65V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.057,-3.531,2.474,0.061,T,B,1.19,0.67,,,,0.00670404,0,0.228622,0.600717
3432,Q13509,R,W,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.24,0.056,0.013,0.077,0.03,0.002,0.003,0.01,0.07,571,92,ENSG00000258947,ENST00000555427,,RP11-566K11.2,0.42,possibly_damaging,0.508,deleterious,0.01,2.33718,13.77,Q13509_R160W,R,W,160,RW,R160W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.000222585,0,0.00759061,0.987856
3484,Q9NZN9,W,X,266,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.13,0.001,0,0.001,0,,,,,9299,375,ENSG00000129221,ENST00000574506,,AIPL1,0.72,,,,,3.94856,20.2,Q9NZN9_W266X,W,X,266,WX,W266X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
3486,Q9BZ71,Q,H,626,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,0.003,0,0.004,0.002,,,,0.01,4980,12837,ENSG00000091622,ENST00000262483,CCDS11076.1,PITPNM3,0.64,benign,0.003,tolerated,0.85,-0.158633,3.225,Q9BZ71_Q626H,Q,H,626,QH,Q626H,Polar,PositiveCharge,6.24,7.59,1.35,146,155,9,143.8,153.2,9.4,24,-1.919,-1.677,-0.242,,,,,,24.681,24.681,69.71,0.000645454,0,0.0220113,1.06201
3537,Q9BYE0,R,W,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.17,,,,,,,,,989,1292,ENSG00000179111,ENST00000317814,CCDS42258.1,HES7,0.11,probably_damaging,0.993,deleterious,0,4.65344,25.6,Q9BYE0_R25W,R,W,25,RW,R25W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.00163627,0,0.0558003,0.720109
3570,Q9UKN7,Q,X,1229,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.08,,,,,,,,,5390,1009,ENSG00000091536,ENST00000205890,CCDS42271.1,MYO15A,0.35,,,,,12.4997,46,Q9UKN7_Q1229X,Q,X,1229,QX,Q1229X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3583,Q96NT5,R,C,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,120,18,ENSG00000076351,ENST00000440501,,SLC46A1,0.25,probably_damaging,1,deleterious,0,4.48317,24,Q96NT5_R113C,R,C,113,RC,R113C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.101,-4.943,3.842,,,,,,,,,0.000931665,0,0.0317717,0.744849
3644,P02533,E,K,422,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,211,5,ENSG00000186847,ENST00000167586,CCDS11400.1,KRT14,0.89,probably_damaging,0.981,deleterious,0,5.38685,34,P02533_E422K,E,K,422,EK,E422K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.471,-3.331,1.86,,,,,,4.979,,60.81,0.00117639,0,0.0401174,0.938484
3646,P02533,Y,H,415,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,190,17,ENSG00000186847,ENST00000167586,CCDS11400.1,KRT14,0.88,probably_damaging,1,deleterious,0,5.094,31,P02533_Y415H,Y,H,415,YH,Y415H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-0.83,-3.893,3.063,,,,,,1.047,,54.24,0.00105037,0,0.0358198,0.838333
3679,P54802,R,X,626,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.12,,,,,,,,,7949,565,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.84,,,,,5.11955,32,P54802_R626X,R,X,626,RX,R626X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00339319,0,0.115715,0.951177
3704,Q8N159,W,X,324,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.17,,,,,,,,,1920,2482,ENSG00000161653,ENST00000293404,CCDS11473.1,NAGS,0.61,,,,,6.18915,37,Q8N159_W324X,W,X,324,WX,W324X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00188763,0,0.064372,0.940107
3760,P08514,E,K,355,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,1681,3583,ENSG00000005961,ENST00000353281,,ITGA2B,0.35,probably_damaging,1,deleterious,0,5.48692,35,P08514_E355K,E,K,355,EK,E355K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.128,-2.081,0.953,0.016,E,B,1.3,-0.6,6,6,21.66,0.000412487,0,0.0140666,0.708602
3793,Q16586,R,H,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,0,0,0,,,,,,136,854,ENSG00000108823,ENST00000543315,,SGCA,0.37,probably_damaging,0.995,tolerated,0.13,3.59814,18.32,Q16586_R98H,R,H,98,RH,R98H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.947,-4.525,2.578,,,,,,0.706,,70.8,0.00165773,0,0.0565321,0.951938
3796,P02452,G,C,1195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,1684,737,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.82,,,tolerated,0.09,1.09128,9.454,P02452_G1195C,G,C,1195,GC,G1195C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.176,-4.898,3.722,,,,,0,0.413,,54.1,0.0001088,0,0.00371029,0.644234
3799,P02452,G,S,1181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.05,,,,,,,,,1642,695,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.81,,,deleterious,0,1.89408,12.29,P02452_G1181S,G,S,1181,GS,G1181S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.185,-3.041,1.856,,,,,0,2.286,,54.1,6.36e-06,0,0.000217004,0.802904
3806,P02452,G,D,1061,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.05,,,,,,,,,1,663,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.72,,,deleterious,0,4.02101,20.6,P02452_G1061D,G,D,1061,GD,G1061D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.657,-3.427,2.77,,,,,0,,,,0.000469544,0,0.0160124,0.676229
3844,Q13253,P,A,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,627,1265,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.15,probably_damaging,0.991,deleterious,0.01,1.54318,11.11,Q13253_P35A,P,A,35,PA,P35A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.147,-2.888,1.741,0.459,.,B,0.52,-1.04,2.576,,37.07,0.00470097,0,0.160313,0.670427
3850,Q13253,R,L,204,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.2,,,,,,,,,1135,757,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.88,probably_damaging,0.998,deleterious,0.01,4.6502,25.6,Q13253_R204L,R,L,204,RL,R204L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.184,-3.175,1.991,0.214,E,B,1.75,-0.53,,,,0.020999,0,0.71611,0.64507
3889,P35499,V,E,1442,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,30962,3403,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.79,possibly_damaging,0.82,deleterious,0,4.03819,20.7,P35499_V1442E,V,E,1442,VE,V1442E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.229,-3.546,2.317,,,,,,9.479,,92.32,0.000108563,0,0.00370223,0.875772
3890,P35499,L,R,1433,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,30935,3430,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.78,probably_damaging,0.999,deleterious,0,2.90877,15.69,P35499_L1433R,L,R,1433,LR,L1433R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.033,-3.959,2.926,,,,,,1.814,,92.32,0.000180036,0,0.0061396,0.859327
3901,P35499,R,Q,1132,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,2614,864,ENSG00000007314,ENST00000435607,CCDS45761.1,SCN4A,0.62,probably_damaging,0.999,deleterious,0,5.60461,36,P35499_R1132Q,R,Q,1132,RQ,R1132Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.046,-2.465,1.419,,,,,,11.501,11.501,53.76,8.68e-05,0,0.00296108,0.954592
3927,P48436,A,T,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.21,,,,,,,,,1739,3662,ENSG00000125398,ENST00000245479,CCDS11689.1,SOX9,0.31,probably_damaging,0.997,deleterious,0.01,6.09103,37,P48436_A158T,A,T,158,AT,A158T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.242,-3.036,1.794,,,,,,2.158,,43.22,0.000844318,0,0.028793,0.934801
3965,P10253,G,R,293,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,6114,100,ENSG00000171298,ENST00000390015,CCDS32760.1,GAA,0.31,probably_damaging,1,deleterious,0,4.87791,28,P10253_G293R,G,R,293,GR,G293R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.73,-4.216,3.486,,,,,,3.346,,62.61,0.000624399,0,0.0212933,0.826544
3966,P10253,L,R,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.17,,,,,,,,,6133,119,ENSG00000171298,ENST00000390015,CCDS32760.1,GAA,0.31,probably_damaging,0.998,deleterious,0,5.11299,32,P10253_L299R,L,R,299,LR,L299R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.447,-3.708,2.261,,,,,,21.539,21.539,68.49,0.00162494,0,0.0554136,0.852981
3974,P10253,R,X,854,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.05,0.001,0.002,0,0.001,,,0.002,,1445,1005,ENSG00000171298,ENST00000390015,CCDS32760.1,GAA,0.9,,,,,6.40634,37,P10253_R854X,R,X,854,RX,R854X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00235933,0,0.0804581,0.959768
3975,P51688,E,K,447,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,748,225,ENSG00000181523,ENST00000326317,CCDS11770.1,SGSH,0.89,probably_damaging,1,deleterious,0,4.38558,23.2,P51688_E447K,E,K,447,EK,E447K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.289,-2.847,1.558,,,,,,5.618,,62.15,0.00225391,0,0.0768631,0.950638
3988,P63261,K,M,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,65,394,ENSG00000184009,ENST00000575994,,ACTG1,0.55,possibly_damaging,0.743,,,3.28934,17.05,P63261_K118M,K,M,118,KM,K118M,PositiveCharge,Hydrophobic,9.74,5.74,-4,146,149,3,168.6,162.9,-5.7,95,-1.416,-4.162,2.746,0.335,H,A,2.89,0,,,,0.000273889,0,0.00934017,0.770414
3992,P32322,R,H,251,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,0,0,0,,,,,,2405,7,ENSG00000183010,ENST00000337943,CCDS11794.1,PYCR1,0.79,probably_damaging,1,deleterious,0,4.79286,27,P32322_R251H,R,H,251,RH,R251H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.281,-4.007,2.726,0.004,H,A,1.03,-0.53,,,,0.00151509,0,0.0516678,0.593598
3993,P32322,G,W,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.05,,,,,,,,,2106,37,ENSG00000183010,ENST00000337943,CCDS11794.1,PYCR1,0.65,probably_damaging,1,deleterious,0,4.18252,21.7,P32322_G206W,G,W,206,GW,G206W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-1.342,-5.069,3.727,0.023,H,A,0.76,-0.44,0.179,,36.68,0.00199515,0,0.0680388,0.570982
4155,P08246,V,M,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.26,,,,,,,,,1047,2905,ENSG00000197561,ENST00000263621,CCDS12045.1,ELANE,0.38,possibly_damaging,0.9,deleterious,0.01,2.73059,15.09,P08246_V101M,V,M,101,VM,V101M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.419,-3.87,2.451,0.142,E,B,0.11,0.07,2.642,,71.54,0.0045787,0,0.156143,0.737642
4177,Q15831,F,L,354,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.19,0.004,0.001,0.005,0.01,0.05,,,0.001,17327,5310,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.82,benign,0.009,tolerated,0.33,0.29167,5.579,Q15831_F354L,F,L,354,FL,F354L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-2.176,-2.22,0.044,,,,,,20.727,20.727,90.07,0.00290721,0,0.0991418,1.00305
4182,O75251,,,,Intergenic,DOWNSTREAM,1,downstream,pathogenic,0.66,0.09,0.153,0.171,0.144,0.1,0.01,0.07,0.15,0.14,2488,804,ENSG00000115286,ENST00000534853,,NDUFS7,,,,,,0.167662,4.902,O75251_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4186,P62841,M,V,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,1773,357,ENSG00000115268,ENST00000233609,CCDS12067.1,RPS15,0.48,benign,0.01,tolerated,0.26,0.90792,8.693,P62841_M70V,M,V,70,MV,M70V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-2.488,-3.035,0.547,,,,,,8.592,,89.66,0.00946485,0,0.322771,0.954337
4244,P50570,S,W,619,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,105783,8042,ENSG00000079805,ENST00000359692,CCDS45968.1,DNM2,0.71,probably_damaging,1,deleterious,0,4.63977,25.5,P50570_S619W,S,W,619,SW,S619W,Polar,Hydrophobic,5.68,5.89,0.21,105,204,99,89,227.8,138.8,177,-1.519,-5.004,3.485,0.12,H,A,0.74,0,,,,0.000367534,0,0.0125337,0.630288
4245,P50570,S,L,619,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,105783,8042,ENSG00000079805,ENST00000359692,CCDS45968.1,DNM2,0.71,probably_damaging,0.992,deleterious,0,5.29411,34,P50570_S619L,S,L,619,SL,S619L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.519,-3.04,1.521,0.12,H,A,0.82,0,,,,0.000367534,0,0.0125337,0.751437
4250,P01130,R,R,406,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.66,0.16,,,,,,,,,65,175,ENSG00000130164,ENST00000558013,,LDLR,0.47,,,,,-0.364109,2.284,P01130_R406R,R,R,406,RR,R406R,PositiveCharge,PositiveCharge,6.34,6.34,0,174,174,0,173.4,173.4,0,0,,,,,,,,,,,,0.00063007,0,0.0214867,1.00426
4274,Q92947,A,T,260,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,0,0,0,,,,,,5768,544,ENSG00000105607,ENST00000421816,,GCDH,0.79,probably_damaging,0.999,deleterious,0,5.7149,36,Q92947_A260T,A,T,260,AT,A260T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.708,-2.267,0.559,0.068,.,B,0.22,-0.42,19.089,19.089,89.73,0.00355857,0,0.121355,0.894549
4299,Q9UM47,R,C,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,,,,,,,,,8887,32461,ENSG00000074181,ENST00000263388,CCDS12326.1,NOTCH3,0.08,probably_damaging,0.949,deleterious,0,3.71556,18.87,Q9UM47_R182C,R,C,182,RC,R182C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.677,-4.769,3.092,,,,,,0.878,,91.25,,,,0.782862
4392,Q9NYJ7,R,X,238,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.05,0,0,0,,,,,,5213,4349,ENSG00000090932,ENST00000205143,CCDS12538.1,DLL3,0.39,,,,,5.04131,29.9,Q9NYJ7_R238X,R,X,238,RX,R238X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00126505,0,0.0431409,0.900587
4419,P02649,R,C,43,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,1483,845,ENSG00000130203,ENST00000446996,,APOE,0.2,benign,0.13,deleterious,0.01,1.8215,12.05,P02649_R43C,R,C,43,RC,R43C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.737,-4.973,2.236,0.701,H,A,1.66,0.42,1.494,,94.01,0.00339244,0,0.115689,0.768979
4420,P02649,L,P,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,0.001,0,0.002,0.001,,,,0.004,1493,855,ENSG00000130203,ENST00000446996,,APOE,0.21,possibly_damaging,0.486,tolerated,0.14,1.15161,9.69,P02649_L46P,L,P,46,LP,L46P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.92,-3.932,2.012,0.547,H,A,1.07,-0.2,2.026,,81.7,0.00456529,0,0.155686,0.80298
4440,P18074,G,R,663,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,,,,,,,,,6862,659,ENSG00000104884,ENST00000391941,,ERCC2,0.93,benign,0.266,deleterious,0,2.4224,14.06,P18074_G663R,G,R,663,GR,G663R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00231239,0,0.0788571,0.954089
4459,Q9H9S5,A,D,455,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.17,,,,,,,,,10768,1762,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.92,possibly_damaging,0.816,deleterious,0.01,5.00621,29.4,Q9H9S5_A455D,A,D,455,AD,A455D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.154,-3.504,2.35,,,,,,2.213,,59.39,0.00427549,0,0.145803,0.840564
4460,Q9H9S5,N,D,463,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,10791,1739,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.94,probably_damaging,0.993,deleterious,0,4.46387,23.8,Q9H9S5_N463D,N,D,463,ND,N463D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-1.079,-2.836,1.757,,,,,,,,,0.0036754,0,0.125339,0.898862
4462,O43186,R,W,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,1819,45,ENSG00000105392,ENST00000539067,CCDS12706.1,CRX,0.14,possibly_damaging,0.866,deleterious,0.01,3.21485,16.77,O43186_R41W,R,W,41,RW,R41W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.00149472,0,0.0509731,0.723988
4466,P18858,R,W,703,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,49060,5794,ENSG00000105486,ENST00000536218,,LIG1,0.83,probably_damaging,1,deleterious,0,3.97156,20.3,P18858_R703W,R,W,703,RW,R703W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00256504,0,0.0874732,0.96958
4470,P19526,L,R,242,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.17,,,,,,,,,4834,2546,ENSG00000174951,ENST00000310160,CCDS12733.1,FUT1,0.66,probably_damaging,1,deleterious,0,3.03484,16.13,P19526_L242R,L,R,242,LR,L242R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.202,-3.803,2.601,,,,,,1.416,,56.99,0.00583711,0,0.199057,0.808599
4485,Q7Z406,S,L,120,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,365,99819,ENSG00000105357,ENST00000425460,CCDS46151.1,MYH14,0.06,probably_damaging,1,deleterious,0,4.97979,29.1,Q7Z406_S120L,S,L,120,SL,S120L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.239,-3.135,1.896,0.032,H,A,0.82,0.22,,,,,,,0.734
4504,P05129,F,L,494,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.17,,,,,,,,,23069,245,ENSG00000126583,ENST00000542049,,PRKCG,0.9,probably_damaging,1,deleterious,0,5.3366,34,P05129_F494L,F,L,494,FL,F494L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,,,,0.940953
4505,Q8WWY3,A,E,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,1542,782,ENSG00000105618,ENST00000391755,,PRPF31,0.39,probably_damaging,0.979,deleterious,0,4.77753,26.9,Q8WWY3_A194E,A,E,194,AE,A194E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.307,-3.122,1.815,,H,A,1.04,-0.66,,,,0.00359436,0,0.122575,0.714113
4572,Q9HC10,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.66,0.11,,,,,,,,,246,964,ENSG00000115155,ENST00000426958,,OTOF,,,,,,3.53241,18.03,Q9HC10_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4577,Q9HC10,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.66,0.09,,,,,,,,,79416,22059,ENSG00000115155,ENST00000403946,,OTOF,,,,,,4.62753,25.3,Q9HC10_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4713,P15313,R,X,31,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.09,,,,,,,,,124,29353,ENSG00000116039,ENST00000234396,CCDS1912.1,ATP6V1B1,0.06,,,,,6.3361,37,P15313_R31X,R,X,31,RX,R31X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00221474,0.00829875,0.0755271,0.959768
4824,P04070,G,S,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,5271,387,ENSG00000115718,ENST00000402125,,PROC,0.46,probably_damaging,0.995,tolerated,0.16,4.81805,27.3,P04070_G109S,G,S,109,GS,G109S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.927,-3.105,2.178,,,,,,1.8,,41,0.00209981,0,0.0716079,0.855244
4997,P07320,R,S,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.17,,,,,,,,,247,2648,ENSG00000118231,ENST00000264376,CCDS2378.1,CRYGD,0.21,probably_damaging,0.955,deleterious,0,3.57698,18.23,P07320_R37S,R,S,37,RS,R37S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.101,-3.241,2.14,0.355,E,B,0.93,1,,,,0.00461984,0,0.157546,0.738129
4999,P07320,R,C,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,181,2714,ENSG00000118231,ENST00000264376,CCDS2378.1,CRYGD,0.09,probably_damaging,0.987,deleterious,0,4.88876,28.1,P07320_R15C,R,C,15,RC,R15C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.225,-4.988,3.763,0.491,E,B,1.66,0.24,0.746,,85.06,0.00502754,0,0.17145,0.737824
5070,P17661,R,W,406,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,1410,2289,ENSG00000175084,ENST00000373960,CCDS33383.1,DES,0.86,probably_damaging,0.999,deleterious,0,4.00753,20.5,P17661_R406W,R,W,406,RW,R406W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.398,-5.058,3.66,,,,,,,,,0.00225406,0,0.076868,0.786734
5075,P23760,P,L,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.19,,,,,,,,,998,3514,ENSG00000135903,ENST00000336840,CCDS2449.1,PAX3,0.12,probably_damaging,0.999,deleterious,0,5.43158,35,P23760_P50L,P,L,50,PL,P50L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.236,-3.265,2.029,0.316,.,B,1.07,-0.9,,,,0.000974012,0,0.0332158,0.674103
5128,O15055,S,G,662,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,31564,12965,ENSG00000132326,ENST00000254657,CCDS2528.1,PER2,0.53,probably_damaging,0.984,deleterious,0.01,4.09786,21.1,O15055_S662G,S,G,662,SG,S662G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-1.068,-2.764,1.696,,,,,,,,,0.000532083,0,0.0181451,0.912855
5132,P21549,L,R,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.04,,,,,,,,,93,4530,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.06,probably_damaging,0.999,deleterious,0,2.54668,14.48,P21549_L25R,L,R,25,LR,L25R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-0.997,-4.018,3.021,0.022,E,B,1.75,-1.05,2.14,,66.58,0.00163019,0,0.0555928,0.480986
5133,P21549,L,P,26,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.04,,,,,,,,,96,4527,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.07,probably_damaging,0.998,deleterious,0,2.42756,14.08,P21549_L26P,L,P,26,LP,L26P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.506,-4.202,2.696,0.007,.,a,1.07,-0.83,1.609,,89.29,0.00169029,0,0.0576422,0.620792
5152,P21549,G,E,103,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,466,4157,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.26,probably_damaging,0.965,deleterious,0.01,3.19925,16.71,P21549_G103E,G,E,103,GE,G103E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.842,-4.084,2.242,,E,b,0.75,-0.16,2.949,,78.06,0.00461376,0,0.157339,0.636191
5153,P21549,W,R,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,480,4143,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.28,probably_damaging,1,deleterious,0,3.63401,18.48,P21549_W108R,W,R,108,WR,W108R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.251,-3.32,2.069,0.026,H,A,1.67,-0.64,26.856,26.856,78.06,0.00176833,0,0.0603036,0.646591
5154,P21549,W,X,108,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.07,,,,,,,,,481,4142,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.28,,,,,7.94132,40,P21549_W108X,W,X,108,WX,W108X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00176833,0,0.0603036,0.919857
5155,P21549,G,V,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,484,4139,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.28,probably_damaging,0.999,deleterious,0,3.97827,20.4,P21549_G109V,G,V,109,GV,G109V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.845,-3.866,3.021,,H,A,0.73,-0.48,3.217,,78.06,0.00159248,0,0.054307,0.625964
5157,P21549,A,A,112,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.66,0.07,,,,,,,,,494,4129,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.29,,,,,-0.819384,0.625,P21549_A112A,A,A,112,AA,A112A,Hydrophobic,Hydrophobic,6,6,0,89,89,0,88.6,88.6,0,0,,,,,,,,,,,,0.00301069,0,0.102671,0.977856
5160,P21549,R,X,122,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.08,,,,,,,,,541,2820,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.31,,,,,5.72224,36,P21549_R122X,R,X,122,RX,R122X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.0045415,0,0.154874,0.934774
5161,P21549,H,R,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,534,2813,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.32,benign,0.007,tolerated,1,-1.69761,0.011,P21549_H124R,H,R,124,HR,H124R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-2.555,-2.538,-0.017,0.288,E,b,1.03,1.06,22.907,22.907,60.46,0.00428755,0,0.146214,0.924579
5166,P21549,F,I,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,0,0,0,,,,,,190,2090,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.39,probably_damaging,0.953,deleterious,0.01,4.54603,24.6,P21549_F152I,F,I,152,FI,F152I,Hydrophobic,Hydrophobic,3.32,6.02,2.7,165,131,-34,189.9,166.7,-23.2,21,-1.601,-3.889,2.288,,E,B,0.1,-0.58,5.319,,89.29,0.00324106,0,0.110527,0.721606
5174,P21549,G,R,170,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,0.001,0,0.001,,,,,,244,2036,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.43,probably_damaging,0.984,deleterious,0,2.78054,15.26,P21549_G170R,G,R,170,GR,G170R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.391,-3.521,2.13,,H,A,0.91,1.57,14.042,14.042,89.29,0.00350595,0,0.11956,0.783603
5175,P21549,C,Y,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,254,2026,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.44,probably_damaging,1,deleterious,0,2.96801,15.9,P21549_C173Y,C,Y,173,CY,C173Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.55,-4.374,2.824,,H,A,0.25,1.53,5.177,,89.29,0.00322237,0,0.109889,0.763537
5176,P21549,C,X,173,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.08,,,,,,,,,255,2025,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.44,,,,,6.2586,37,P21549_C173X,C,X,173,CX,C173X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00322237,0,0.109889,0.953637
5182,P21549,M,R,195,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,1849,431,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.5,probably_damaging,0.986,deleterious,0,3.31793,17.16,P21549_M195R,M,R,195,MR,M195R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.907,-4.295,2.388,,T,A,1.75,0.07,3.591,,75,0.00373214,0,0.127274,0.648576
5193,P21549,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.66,0.07,,,,,,,,,2874,595,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,,,,,,3.77417,19.16,P21549_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5194,P21549,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.66,0.07,,,,,,,,,2874,595,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,,,,,,3.65356,18.57,P21549_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5314,Q9UBC3,Q,X,42,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.15,,,,,,,,,559,20493,ENSG00000088305,ENST00000201963,CCDS13204.1,DNMT3B,0.05,,,,,6.00152,37,Q9UBC3_Q42X,Q,X,42,QX,Q42X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000191628,0,0.00653493,0.98231
5323,Q13424,A,V,390,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,0,0,0,,,,,,33690,2248,ENSG00000101400,ENST00000217381,CCDS13220.1,SNTA1,0.77,possibly_damaging,0.684,deleterious,0.01,5.51723,35,Q13424_A390V,A,V,390,AV,A390V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.436,-3.144,1.708,,,,,,3.012,,73.07,0.00288583,0,0.0984128,0.959375
5385,P14780,M,K,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.66,0.03,0,0,0,,,,,,20,7634,ENSG00000100985,ENST00000372330,CCDS13390.1,MMP9,0,benign,0.05,deleterious,0,2.76758,15.22,P14780_M1K,M,K,1,MK,M1K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.406,-3.274,1.868,,,,,,,,,0.000488574,0,0.0166614,0.895395
5414,O43526,R,Q,553,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,59084,576,ENSG00000075043,ENST00000359689,,KCNQ2,0.63,probably_damaging,0.999,deleterious,0,5.28855,33,O43526_R553Q,R,Q,553,RQ,R553Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.236,-3.565,2.329,,,,,,3.084,,77.06,0.000910755,0,0.0310586,0.874476
5418,O43526,P,S,430,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,53007,6653,ENSG00000075043,ENST00000359689,,KCNQ2,0.49,benign,0.001,tolerated,0.28,2.20473,13.33,O43526_P430S,P,S,430,PS,P430S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-2.657,-2.549,-0.108,,,,,,20.227,20.227,91.06,0.00185566,0.00452489,0.0632817,1.01626
5422,O43526,R,G,353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.2,,,,,,,,,861,191,ENSG00000075043,ENST00000359689,,KCNQ2,0.4,probably_damaging,0.999,deleterious,0,5.26676,33,O43526_R353G,R,G,353,RG,R353G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.137,-3.357,2.22,,,,,,2.904,,42.32,0.00102687,0,0.0350184,0.795842
5437,O43526,M,V,208,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,27912,11048,ENSG00000075043,ENST00000359689,,KCNQ2,0.24,probably_damaging,0.942,deleterious,0,3.90134,19.84,O43526_M208V,M,V,208,MV,M208V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.01,-2.905,1.895,,,,,,6.891,,71.9,0.000260036,0,0.00886777,1.03826
5438,O43526,R,Q,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,27910,11050,ENSG00000075043,ENST00000359689,,KCNQ2,0.24,probably_damaging,0.997,deleterious,0.05,5.02996,29.7,O43526_R207Q,R,Q,207,RQ,R207Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.825,-3.478,2.653,,,,,,,,,0.000295397,0,0.0100737,0.823152
5439,O43526,R,W,207,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,0,,,,,27909,11051,ENSG00000075043,ENST00000359689,,KCNQ2,0.24,probably_damaging,0.999,deleterious,0,3.97297,20.3,O43526_R207W,R,W,207,RW,R207W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.825,-5.351,4.526,,,,,,,,,0.000295397,0,0.0100737,0.787295
5470,P00441,G,S,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.2,,,,,,,,,109,6225,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.11,probably_damaging,0.993,deleterious,0,4.43911,23.6,P00441_G17S,G,S,17,GS,G17S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.861,-2.938,2.077,0.126,E,b,0.02,-0.7,,,,0.00270918,0.00729927,0.0923885,0.662015
5471,P00441,E,K,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.2,,,,,,,,,124,6240,ENSG00000142168,ENST00000270142,CCDS33536.1,SOD1,0.14,benign,0.09,tolerated,0.19,2.57818,14.58,P00441_E22K,E,K,22,EK,E22K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.426,-2.941,1.515,0.257,E,B,1.3,1.21,6.691,,74.03,0.00932055,0,0.31785,0.909658
5518,P35520,D,N,444,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,0,0,0,,,,,,80,415,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.81,probably_damaging,0.972,tolerated,0.09,4.8876,28.1,P35520_D444N,D,N,444,DN,D444N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.057,-3,1.943,0.652,S,A,0.14,-0.1,,,,0.00305716,0,0.104255,0.828863
5525,P35520,T,M,191,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,2924,136,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.35,probably_damaging,0.998,deleterious,0,3.78822,19.23,P35520_T191M,T,M,191,TM,T191M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.309,-4.379,3.07,0.007,E,B,0.77,1.9,0.575,,48.46,0.0016213,0,0.0552897,0.682961
5526,P35520,V,M,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,,,,,,,,,2760,29,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.3,probably_damaging,0.997,deleterious,0.01,4.48276,24,P35520_V168M,V,M,168,VM,V168M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.201,-3.807,2.606,,E,B,0.11,0.34,,,,0.00273504,0,0.0932704,0.741476
5533,P02489,R,C,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,1877,191,ENSG00000160202,ENST00000398132,,CRYAA,0.58,probably_damaging,1,deleterious,0,4.68826,25.9,P02489_R79C,R,C,79,RC,R79C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.0072458,0,0.247097,0.88334
5534,P02489,R,H,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,1878,190,ENSG00000160202,ENST00000398132,,CRYAA,0.58,probably_damaging,1,deleterious,0,4.96388,28.9,P02489_R79H,R,H,79,RH,R79H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.0072458,0,0.247097,0.950873
5541,O43918,R,X,257,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.09,0,0,0,,,,,,495,7967,ENSG00000160224,ENST00000291582,CCDS13706.1,AIRE,0.47,,,,,4.94798,28.8,O43918_R257X,R,X,257,RX,R257X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000936037,0,0.0319208,0.943372
5543,P05107,R,W,586,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,0.005,0.002,0.006,0.004,,,,0.01,266,3064,ENSG00000160255,ENST00000397850,CCDS13716.1,ITGB2,0.76,possibly_damaging,0.684,deleterious,0,3.16175,16.58,P05107_R586W,R,W,586,RW,R586W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.079,-3.04,0.961,0.607,T,A,1.67,0.09,38.355,38.355,83.36,0.00178799,0,0.060974,0.915228
5561,P12110,P,L,932,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.24,0.002,0,0.003,,,,,,34190,563,ENSG00000142173,ENST00000300527,CCDS13728.1,COL6A2,0.91,benign,0.06,,,-0.816505,0.633,P12110_P932L,P,L,932,PL,P932L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-2.117,-3.222,1.105,,,,,,5.428,,91.17,0.00424417,0,0.144735,0.96603
5575,O43272,R,H,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,0.082,0.037,0.105,0.05,,0.05,0.02,0.1,3124,5669,ENSG00000100033,ENST00000313755,,PRODH,0.31,probably_damaging,0.953,tolerated,0.13,3.91387,19.91,O43272_R76H,R,H,76,RH,R76H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000958711,0,0.032694,0.933336
5581,O43435,H,Q,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,856,522,ENSG00000184058,ENST00000332710,CCDS13767.1,TBX1,0.39,probably_damaging,0.996,deleterious,0,3.97618,20.4,O43435_H194Q,H,Q,194,HQ,H194Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.74,-3.592,1.852,0.171,E,B,0.47,-0.92,0.664,,30.65,0.00265842,0,0.0906575,0.736832
5618,P35579,R,H,705,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,82043,24694,ENSG00000100345,ENST00000216181,CCDS13927.1,MYH9,0.36,probably_damaging,1,deleterious,0,5.82286,36,P35579_R705H,R,H,705,RH,R705H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.169,-4.186,3.017,0.432,T,a,1.03,-1.55,1.552,,76.02,8.57e-05,0,0.00292338,0.665708
5624,Q8IU80,G,R,433,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,28474,9741,ENSG00000187045,ENST00000406725,,TMPRSS6,0.54,probably_damaging,0.942,deleterious,0.04,3.38411,17.42,Q8IU80_G433R,G,R,433,GR,G433R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
5625,Q8IU80,Y,C,409,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,28403,9812,ENSG00000187045,ENST00000406725,,TMPRSS6,0.51,possibly_damaging,0.845,deleterious,0.01,4.14911,21.4,Q8IU80_Y409C,Y,C,409,YC,Y409C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
5635,Q9H2D6,R,X,1068,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.12,,,,,,,,,28137,813,ENSG00000100106,ENST00000406386,CCDS43015.1,TRIOBP,0.45,,,,,7.80561,39,Q9H2D6_R1068X,R,X,1068,RX,R1068X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
5661,P17050,E,X,193,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.05,,,,,,,,,517,6928,ENSG00000198951,ENST00000396398,CCDS14030.1,NAGA,0.47,,,,,7.34391,39,P17050_E193X,E,X,193,EX,E193X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00413361,0,0.140965,0.953272
5673,P00387,L,P,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,1963,345,ENSG00000100243,ENST00000407623,CCDS14040.1,CYB5R3,0.18,probably_damaging,1,deleterious,0,3.58114,18.24,P00387_L50P,L,P,50,LP,L50P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00405154,0,0.138166,0.956264
5686,Q9BV10,L,P,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,4,6124,ENSG00000182858,ENST00000330817,CCDS14081.1,ALG12,0.32,probably_damaging,0.997,deleterious,0,4.7977,27.1,Q9BV10_L158P,L,P,158,LP,L158P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00316755,0,0.10802,0.77051
5722,P15289,D,V,335,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.04,0,0,0,,,,,,2123,559,ENSG00000100299,ENST00000547805,,ARSA,0.66,probably_damaging,1,deleterious,0,4.29824,22.5,P15289_D335V,D,V,335,DV,D335V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-0.985,-3.571,2.586,,G,A,1.19,-0.37,,,,0.00353529,0.00581395,0.120561,0.547854
5738,P15289,P,L,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,938,627,ENSG00000100299,ENST00000547805,,ARSA,0.27,probably_damaging,0.994,deleterious,0,4.68934,25.9,P15289_P136L,P,L,136,PL,P136L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,H,A,1.07,-0.5,,,,0.000470153,0,0.0160332,0.587907
5739,P15289,L,P,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.08,,,,,,,,,935,630,ENSG00000100299,ENST00000547805,,ARSA,0.27,benign,0.429,deleterious,0.02,3.38259,17.41,P15289_L135P,L,P,135,LP,L135P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,0.015,S,B,1.07,-0.74,,,,0.00284943,0,0.0971713,0.565646
5818,O00755,R,C,292,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,61002,2862,ENSG00000154764,ENST00000285018,CCDS2616.1,WNT7A,0.84,probably_damaging,1,deleterious,0,3.27342,16.99,O00755_R292C,R,C,292,RC,R292C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.398,-4.823,3.425,,,,,,,,,0.00111306,0,0.0379576,0.701873
5870,Q8N335,A,V,280,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,0,0,0,0.001,,,,0.003,339,178,ENSG00000152642,ENST00000282541,CCDS33729.1,GPD1L,0.8,benign,0.007,tolerated,0.84,-0.918604,0.4,Q8N335_A280V,A,V,280,AV,A280V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.646,-1.813,0.167,0.214,H,A,0.44,-0.46,24.698,24.698,91.74,0.00478653,0,0.163231,0.940306
5969,Q02388,G,D,2076,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.03,,,,,,,,,9405,11043,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.71,,,,,1.15522,9.704,Q02388_G2076D,G,D,2076,GD,G2076D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.246,-3.524,2.278,,,,,,1.25,,42.8,,,,0.771524
5978,Q02388,R,X,1630,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.07,,,,,,,,,3250,17198,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.55,,,,,12.1713,46,Q02388_R1630X,R,X,1630,RX,R1630X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6030,O75369,L,R,1431,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,,,,,,,,,52324,39965,ENSG00000136068,ENST00000429972,CCDS54600.1,FLNB,0.55,probably_damaging,0.963,deleterious,0,4.84154,27.5,O75369_L1431R,L,R,1431,LR,L1431R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.538,-3.971,2.433,,,,,,1.667,,81.82,0.00023155,0,0.00789634,0.87304
6156,P14770,F,S,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,0,0,0,,,,,,1184,456,ENSG00000169704,ENST00000307395,CCDS3055.1,GP9,0.4,probably_damaging,0.99,deleterious,0.01,2.55797,14.51,P14770_F71S,F,S,71,FS,F71S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.158,-3.527,2.369,,,,,,0.749,,30.51,0.00479029,0,0.163359,0.78169
6286,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.66,0.2,,,,,,,,,12,449,,ENSR00001378964,,,,,,,,1.46819,10.85,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
6301,P48431,Q,X,55,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.19,,,,,,,,,589,792,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.17,,,,,6.65973,38,P48431_Q55X,Q,X,55,QX,Q55X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00157614,0,0.0537495,0.904853
6308,P48431,Q,X,177,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.2,,,,,,,,,955,426,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.56,,,,,7.34654,39,P48431_Q177X,Q,X,177,QX,Q177X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00492707,0.00714286,0.168023,0.940312
6429,P22607,S,C,371,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,,,,,,,,,128,626,ENSG00000068078,ENST00000440486,CCDS3353.1,FGFR3,0.46,possibly_damaging,0.759,deleterious,0.01,2.26215,13.52,P22607_S371C,S,C,371,SC,S371C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.89,-4.802,2.912,,,,,,0.955,,92.06,0.000920831,0,0.0314022,0.858951
6432,P22607,A,E,391,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,67,687,ENSG00000068078,ENST00000440486,CCDS3353.1,FGFR3,0.49,benign,0.293,deleterious,0.02,3.12665,16.45,P22607_A391E,A,E,391,AE,A391E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.686,-3.487,1.801,,,,,,2.156,,92.56,0.00108903,0,0.0371383,0.949966
6456,P28360,R,P,202,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.21,,,,,,,,,408,193,ENSG00000163132,ENST00000382723,CCDS3378.2,MSX1,0.67,probably_damaging,0.995,deleterious,0,5.30157,34,P28360_R202P,R,P,202,RP,R202P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00162547,0,0.0554318,0.88198
6465,O76024,Q,X,226,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.08,,,,,,,,,2886,8957,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.25,,,,,7.44618,39,O76024_Q226X,Q,X,226,QX,Q226X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000394715,0,0.0134606,0.98231
6469,O76024,G,V,695,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.2,,,,,,,,,12804,962,ENSG00000109501,ENST00000503569,CCDS3386.1,WFS1,0.78,probably_damaging,0.994,deleterious,0,4.28871,22.4,O76024_G695V,G,V,695,GV,G695V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.809,-3.571,2.762,,,,,,,,,0.00104091,0,0.0354971,0.717671
6714,O14746,R,C,486,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,1560,26980,ENSG00000164362,ENST00000296820,,TERT,0.6,possibly_damaging,0.474,deleterious,0,2.30373,13.66,O14746_R486C,R,C,486,RC,R486C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.45,-5.073,3.623,,,,,,0.212,,24.65,0.000760967,0,0.0259505,0.808512
6856,P51659,G,S,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.19,0,0,0,,,,,,51,4112,ENSG00000133835,ENST00000256216,CCDS4126.1,HSD17B4,0.02,probably_damaging,1,deleterious,0,4.48799,24,P51659_G16S,G,S,16,GS,G16S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,0.138,T,l,0.02,-1.02,,,,0.00053835,0,0.0183589,0.653493
6966,Q13428,Q,X,329,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.03,,,,,,,,,447,6572,ENSG00000070814,ENST00000427724,,TCOF1,0.23,,,,,4.01888,20.6,Q13428_Q329X,Q,X,329,QX,Q329X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
6999,P52952,R,P,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.23,,,,,,,,,2145,167,ENSG00000183072,ENST00000329198,CCDS4387.1,NKX2-5,0.5,probably_damaging,0.996,deleterious,0,3.98825,20.4,P52952_R161P,R,P,161,RP,R161P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.624,-3.626,2.002,,,,,,1.883,,69.44,0.00330001,0,0.112537,0.869747
7341,Q15672,L,P,131,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.21,,,,,,,,,6,1462,ENSG00000122691,ENST00000242261,CCDS5367.1,TWIST1,0.65,probably_damaging,1,deleterious,0,3.35671,17.31,Q15672_L131P,L,P,131,LP,L131P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.413,-3.915,2.502,,,,,,1.04,,42.08,0.000676329,0,0.0230642,0.84185
7343,Q15672,S,X,123,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.23,,,,,,,,,30,1486,ENSG00000122691,ENST00000242261,CCDS5367.1,TWIST1,0.61,,,,,7.78226,39,Q15672_S123X,S,X,123,SX,S123X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00408826,0,0.139418,0.953542
7387,P10071,E,D,1152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,186838,1535,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.73,benign,0.001,tolerated,0.51,0.826391,8.33,P10071_E1152D,E,D,1152,ED,E1152D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-2.227,-2.665,0.438,,,,,,35.178,35.178,88.67,0.000693053,0,0.0236345,1.0166
7421,P35557,T,M,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,,,,,,,,,705,2186,ENSG00000106633,ENST00000403799,CCDS5479.1,GCK,0.49,probably_damaging,0.945,deleterious,0.01,4.59661,25,P35557_T228M,T,M,228,TM,T228M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.245,-4.215,2.97,0.338,S,A,0.77,-1.07,,,,0.00144559,0,0.0492974,0.591924
7474,P16435,V,E,492,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.16,,,,,,,,,85,91,ENSG00000127948,ENST00000394893,,POR,0.78,probably_damaging,0.999,deleterious,0,4.17825,21.6,P16435_V492E,V,E,492,VE,V492E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,,,,,,,,,,,,0.00221497,0,0.0755351,0.972492
7478,P04792,R,W,136,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,0,0,0,,,,,,266,418,ENSG00000106211,ENST00000248553,CCDS5583.1,HSPB1,0.66,possibly_damaging,0.743,deleterious,0,5.00792,29.5,P04792_R136W,R,W,136,RW,R136W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,0.0030593,0,0.104328,0.771242
7683,P24557,L,P,488,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.12,,,,,,,,,188494,937,ENSG00000059377,ENST00000436047,CCDS5855.1,TBXAS1,0.91,probably_damaging,0.973,deleterious,0,3.42837,17.59,P24557_L488P,L,P,488,LP,L488P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
7721,Q12809,W,X,1001,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.08,,,,,,,,,8430,2516,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.86,,,,,11.3559,45,Q12809_W1001X,W,X,1001,WX,W1001X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00255231,0,0.087039,0.940601
7756,P50219,E,X,70,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.16,,,,,,,,,180,645,ENSG00000130675,ENST00000428439,,MNX1,0.85,,,,,8.49168,40,P50219_E70X,E,X,70,EX,E70X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
7757,P50219,Q,X,47,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.16,,,,,,,,,249,577,ENSG00000130675,ENST00000428439,,MNX1,0.57,,,,,8.17277,40,P50219_Q47X,Q,X,47,QX,Q47X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7813,O43593,R,X,613,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.11,,,,,,,,,876,3608,ENSG00000168453,ENST00000381418,CCDS6022.1,HR,0.52,,,,,16.9379,50,O43593_R613X,R,X,613,RX,R613X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000365826,0,0.0124754,0.977351
7817,P11686,R,Q,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,0.005,0.015,0,0.003,,,0.01,,790,52,ENSG00000168484,ENST00000521315,CCDS55209.1,SFTPC,0.84,benign,0.061,tolerated,0.28,1.93402,12.42,P11686_R161Q,R,Q,161,RQ,R161Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.0151889,0,0.517971,0.955671
8004,P55000,R,X,96,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.12,,,,,,,,,1243,225,ENSG00000126233,ENST00000246515,CCDS6387.1,SLURP1,0.93,,,,,3.48507,17.83,P55000_R96X,R,X,96,RX,R96X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00979353,0,0.333979,0.91483
8005,P55000,C,R,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,1186,282,ENSG00000126233,ENST00000246515,CCDS6387.1,SLURP1,0.75,probably_damaging,0.998,deleterious,0,1.68409,11.59,P55000_C77R,C,R,77,CR,C77R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,0.00974859,0,0.332447,0.724858
8008,P15538,R,H,448,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.09,0,0,0,,,,,,786,1187,ENSG00000160882,ENST00000292427,CCDS6392.1,CYP11B1,0.89,probably_damaging,1,deleterious,0,3.77089,19.15,P15538_R448H,R,H,448,RH,R448H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.064,-4.105,3.041,,,,,,,,,0.00479317,0,0.163457,0.778264
8015,P15538,P,S,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,0,0,0,,,,,,131,5865,ENSG00000160882,ENST00000517471,CCDS34953.1,CYP11B1,0.1,probably_damaging,1,deleterious,0,2.34613,13.8,P15538_P42S,P,S,42,PS,P42S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.906,-3.241,2.335,,,,,,,,,0.00157015,0.0043384,0.0535452,0.74122
8022,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.66,0.08,,,,,,,,,341,643,,ENSR00001404457,,,,,,,,1.34019,10.4,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8141,Q01974,Y,X,615,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.13,,,,,,,,,162971,1627,ENSG00000169071,ENST00000375715,,ROR2,0.87,,,,,8.40916,40,Q01974_Y615X,Y,X,615,YX,Y615X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00025738,0,0.00877718,0.970188
8155,P09467,E,X,30,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.21,,,,,,,,,285,32408,ENSG00000165140,ENST00000415431,CCDS6712.1,FBP1,0.09,,,,,8.12067,40,P09467_E30X,E,X,30,EX,E30X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00447921,0,0.15275,0.938689
8230,Q9P202,R,X,778,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.12,0,0,0,,,,,,22090,1901,ENSG00000095397,ENST00000362057,CCDS6806.1,DFNB31,0.86,,,,,7.96034,40,Q9P202_R778X,R,X,778,RX,R778X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00134723,0,0.0459435,0.900587
8249,O60663,C,F,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.17,,,,,,,,,76393,5590,ENSG00000136944,ENST00000425646,,LMX1B,0.26,probably_damaging,0.999,deleterious,0,4.98217,29.2,O60663_C95F,C,F,95,CF,C95F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,,,,0.932606
8324,P20908,C,S,1639,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.07,,,,,,,,,95,5537,ENSG00000130635,ENST00000371817,CCDS6982.1,COL5A1,0.89,,,deleterious,0,3.22426,16.8,P20908_C1639S,C,S,1639,CS,C1639S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.599,-3.266,1.667,,,,,,2.453,,76.88,0.00055888,0,0.019059,0.952027
8338,O15120,R,X,68,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.17,,,,,,,,,157,510,ENSG00000169692,ENST00000371696,CCDS7003.1,AGPAT2,0.24,,,,,6.14857,37,O15120_R68X,R,X,68,RX,R68X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00618147,0.00952381,0.210801,0.91317
8355,Q9H9B1,R,W,1197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.21,,,,,,,,,318,596,ENSG00000181090,ENST00000460843,CCDS7050.2,EHMT1,0.92,probably_damaging,1,deleterious,0,4.56414,24.7,Q9H9B1_R1197W,R,W,1197,RW,R1197W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.447,-5.093,3.646,0.051,G,A,1.67,-0.95,0.302,,51.46,0.00385906,0,0.131602,0.479587
8472,P51843,Y,X,197,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.17,,,,,,,,,285,2952,ENSG00000169297,ENST00000453287,,NR0B1,0.49,,,,,2.94076,15.8,P51843_Y197X,Y,X,197,YX,Y197X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00259064,0,0.0883462,0.945391
8474,P51843,Y,X,91,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.21,,,,,,,,,288,3270,ENSG00000169297,ENST00000453287,,NR0B1,0.23,,,,,0.815484,8.281,P51843_Y91X,Y,X,91,YX,Y91X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00263396,0,0.0898234,0.945391
8869,P27918,R,X,161,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.05,,,,,,,,,984,559,ENSG00000126759,ENST00000377005,,CFP,0.39,,,,,2.61392,14.7,P27918_R161X,R,X,161,RX,R161X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000549575,0,0.0187417,0.977351
8908,Q9BZS1,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.66,0.08,,,,,,,,,3,7165,ENSG00000049768,ENST00000557224,,FOXP3,0,possibly_damaging,0.846,deleterious,0,3.11067,16.39,Q9BZS1_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.71,-2.846,1.136,,,,,,,,,0.00123917,0,0.0422584,0.86131
9021,Q92838,Y,H,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,372,53772,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.16,,,deleterious,0,2.88976,15.63,Q92838_Y61H,Y,H,61,YH,Y61H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.282,-3.516,2.234,,,,,,,,,0.000236623,0,0.00806933,0.830877
9022,Q92838,Y,X,61,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.66,0.15,,,,,,,,,374,53770,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.16,,,,,7.28029,38,Q92838_Y61X,Y,X,61,YX,Y61X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000236623,0,0.00806933,0.970188
9023,Q92838,E,K,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,378,53766,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.16,,,deleterious,0,3.69648,18.78,Q92838_E63K,E,K,63,EK,E63K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.386,-2.947,1.561,,,,,,2.227,,48.85,0.000228979,0,0.00780864,0.950461
9680,P33897,A,T,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,131,4037,ENSG00000101986,ENST00000218104,CCDS14728.1,ABCD1,0.19,probably_damaging,0.996,deleterious,0,4.66212,25.7,P33897_A141T,A,T,141,AT,A141T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.242,-1.989,0.747,,,,,,15.712,15.712,63.89,0.00128665,0,0.0438773,0.995299
9681,P33897,N,S,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.15,,,,,,,,,109,4015,ENSG00000101986,ENST00000218104,CCDS14728.1,ABCD1,0.2,probably_damaging,1,deleterious,0,4.32713,22.7,P33897_N148S,N,S,148,NS,N148S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.162,-2.713,1.551,,,,,,,,,0.000461998,0,0.0157551,0.919196
9696,P32004,V,M,754,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.11,,,,,,,,,911,54,ENSG00000198910,ENST00000538883,,L1CAM,0.6,probably_damaging,0.999,deleterious,0,5.25308,33,P32004_V754M,V,M,754,VM,V754M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.000158584,0,0.00540806,1.00568
9713,P30518,R,C,181,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,933,735,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.49,probably_damaging,0.932,tolerated,0.05,1.9552,12.5,P30518_R181C,R,C,181,RC,R181C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.281,-4.864,3.583,,,,,,,,,0.00375395,0,0.128017,0.74397
9716,P30518,R,C,203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.66,0.13,,,,,,,,,999,669,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.55,probably_damaging,0.991,deleterious,0,1.44544,10.78,P30518_R203C,R,C,203,RC,R203C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.624,-4.953,3.329,,,,,,0.569,,66.04,0.00389777,0,0.132922,0.812977
102,Q8TD43,P,L,850,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.67,0.07,0.002,0,0.003,0.002,,0.01,,0.001,53398,595,ENSG00000130529,ENST00000355712,,TRPM4,0.99,possibly_damaging,0.833,tolerated,0.49,2.52702,14.41,Q8TD43_P850L,P,L,850,PL,P850L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.000958729,0,0.0379157,0.915128
147,Q14773,Q,R,100,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.67,0.17,0.004,0,0.005,0.002,,,,0.01,337,696,ENSG00000105371,ENST00000380770,CCDS12232.1,ICAM4,0.37,possibly_damaging,0.852,tolerated,0.23,3.1074,16.38,Q14773_Q100R,Q,R,100,QR,Q100R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.995,-2.449,0.454,,,,,,9.141,9.141,62.36,0.00588668,0,0.232806,0.989377
114,P05186,G,R,379,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.16,,,,,,,,,2961,293,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.85,probably_damaging,0.985,deleterious,0,4.78627,26.9,P05186_G379R,G,R,379,GR,G379R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.000736307,0,0.0251096,0.972859
152,P54819,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.67,0.17,,,,,,,,,13,12708,ENSG00000004455,ENST00000480134,,AK2,0.01,possibly_damaging,0.464,deleterious,0,3.22181,16.8,P54819_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-2.009,-2.849,0.84,,,,,,0.414,,10.04,0.00302096,0.00420168,0.103021,0.88319
218,P40238,W,X,491,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.09,,,,,,,,,11418,271,ENSG00000117400,ENST00000413998,,MPL,0.89,,,,,4.02118,20.6,P40238_W491X,W,X,491,WX,W491X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00430178,0,0.1467,0.920138
451,P04629,Y,H,604,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.08,,,,,,,,,768,2409,ENSG00000198400,ENST00000392302,CCDS30890.1,NTRK1,0.79,probably_damaging,0.996,deleterious,0,4.40289,23.3,P04629_Y604H,Y,H,604,YH,Y604H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.00194214,0,0.0662311,0.972003
685,P45379,R,W,141,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,,,,,,,,,148,409,ENSG00000118194,ENST00000367318,CCDS30969.1,TNNT2,0.49,probably_damaging,1,deleterious,0,4.03667,20.7,P45379_R141W,R,W,141,RW,R141W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.281,-5.099,3.818,,,,,,,,,0.00384463,0,0.13111,0.776692
776,P35609,Q,R,9,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.21,0.001,0,0.001,0.001,,,,0.003,172,58071,ENSG00000077522,ENST00000542672,,ACTN2,0.01,benign,0,tolerated,0.17,2.52169,14.39,P35609_Q9R,Q,R,9,QR,Q9R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-2.364,-3.443,1.079,,,,,,4.368,,92.28,,,,0.939403
918,P07602,C,F,382,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.09,,,,,,,,,490,10,ENSG00000197746,ENST00000373120,,PSAP,0.68,probably_damaging,1,deleterious,0,3.8492,19.55,P07602_C382F,C,F,382,CF,C382F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,-1.111,-3.923,2.812,,,,,,,,,0.00160195,0,0.0546297,0.706619
1024,Q92902,E,X,666,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.09,,,,,,,,,2699,482,ENSG00000107521,ENST00000361490,CCDS7475.1,HPS1,0.95,,,,,8.31757,40,Q92902_E666X,E,X,666,EX,E666X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
1511,P57796,R,C,124,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.07,0,0,0,0.001,,,,0.001,788,401,ENSG00000175544,ENST00000325656,CCDS8166.1,CABP4,0.45,probably_damaging,0.998,deleterious,0,2.99328,15.98,P57796_R124C,R,C,124,RC,R124C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.331,-4.828,3.497,0.175,S,B,1.66,0.17,0.375,,23.64,0.00289521,0,0.0987325,0.634637
1766,Q8NFD2,E,K,713,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.11,0.235,0.327,0.19,0.3,0.39,0.28,0.38,0.18,12315,313,ENSG00000170209,ENST00000303941,CCDS44734.1,ANKK1,0.93,benign,0,tolerated,1,-2.08938,0.006,Q8NFD2_E713K,E,K,713,EK,E713K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-2.537,-1.934,-0.603,0.781,H,A,1.3,2.2,25.534,25.534,92.16,0.00198522,0,0.0677001,0.970483
2132,P05787,G,C,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,0.005,0.002,0.007,0.003,,,0.004,0.01,247,122,ENSG00000170421,ENST00000546826,,KRT8,0.23,probably_damaging,0.987,deleterious,0.01,3.06216,16.22,P05787_G62C,G,C,62,GC,G62C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-1.644,-4.79,3.146,,,,,,1.894,,88.41,0.00149717,0,0.0510567,0.852956
2141,Q92781,S,F,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.08,,,,,,,,,207,393,ENSG00000135437,ENST00000548082,CCDS31829.1,RDH5,0.23,probably_damaging,0.998,deleterious,0,2.41028,14.02,Q92781_S73F,S,F,73,SF,S73F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.567,-3.672,2.105,,,,,,7.268,,55.35,0.00301846,0,0.102936,0.861568
2196,Q3T906,K,Q,4,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.19,,,,0.001,,,,0.001,14,34155,ENSG00000111670,ENST00000547090,,GNPTAB,0.03,benign,0.347,deleterious,0.01,2.64951,14.82,Q3T906_K4Q,K,Q,4,KQ,K4Q,PositiveCharge,Polar,9.74,6.24,-3.5,146,146,0,168.6,143.8,-24.8,53,-1.335,-3.399,2.064,,,,,,2.381,,87.82,0.000462736,0,0.0157803,0.91242
2302,P16219,R,W,171,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.13,0.034,0.01,0.047,0.03,,0.03,0.004,0.06,12014,70,ENSG00000122971,ENST00000242592,CCDS9207.1,ACADS,0.42,possibly_damaging,0.671,tolerated,0.05,2.79719,15.32,P16219_R171W,R,W,171,RW,R171W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.178,-2.898,0.72,0.325,E,B,1.67,0.34,46.159,46.159,92.96,0.00466693,0,0.159152,0.92871
2314,P20823,S,T,531,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.08,0,0,0,,,,,,20609,1912,ENSG00000135100,ENST00000544413,,HNF1A,0.83,benign,0.221,tolerated,0.1,3.88394,19.74,P20823_S531T,S,T,531,ST,S531T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.552,-3.048,1.496,,,,,,1.925,,65.29,0.00483567,0,0.164906,0.947504
2484,P00742,R,C,366,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.17,,,,,,,,,26328,317,ENSG00000126218,ENST00000375559,CCDS9530.1,F10,0.75,probably_damaging,0.936,deleterious,0,2.1515,13.15,P00742_R366C,R,C,366,RC,R366C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.456,-5.031,3.575,0.474,.,b,1.66,1.48,0.646,,75,0.0026957,0,0.0919288,0.741807
2543,P54845,S,T,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.05,,,,,,,,,715,47,ENSG00000129535,ENST00000558280,,NRL,0.77,probably_damaging,0.928,tolerated,0.13,4.60627,25.1,P54845_S50T,S,T,50,ST,S50T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.146,-2.789,1.643,,,,,,,,,0.00270957,0,0.0924019,0.888877
2581,P25963,S,I,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.17,,,,,,,,,101,802,ENSG00000100906,ENST00000553342,,NFKBIA,0.47,probably_damaging,0.972,deleterious,0,4.55947,24.7,P25963_S32I,S,I,32,SI,S32I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-1.146,-3.602,2.456,,,,,,,,,0.00202971,0,0.0692172,0.787221
2585,P43699,R,S,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.19,,,,,,,,,1765,540,ENSG00000136352,ENST00000354822,CCDS41945.1,NKX2-1,0.61,probably_damaging,0.974,deleterious,0,4.50576,24.2,P43699_R243S,R,S,243,RS,R243S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,,,,,,,,,,,,,,,0.912913
2588,P43699,E,X,205,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.23,,,,,,,,,1651,654,ENSG00000136352,ENST00000354822,CCDS41945.1,NKX2-1,0.51,,,,,6.08569,37,P43699_E205X,E,X,205,EX,E205X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
2594,P55771,I,F,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.17,,,,,,,,,577,8,ENSG00000198807,ENST00000402703,CCDS9662.1,PAX9,0.26,probably_damaging,0.986,deleterious,0,4.79174,27,P55771_I87F,I,F,87,IF,I87F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.436,-3.353,1.917,0.03,H,A,0.1,1.59,,,,0.000327383,0,0.0111644,0.865275
2603,Q9NVR5,S,X,8,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.16,,,,,,,,,104,9953,ENSG00000165506,ENST00000298292,CCDS9691.2,DNAAF2,0.01,,,,,5.3162,34,Q9NVR5_S8X,S,X,8,SX,S8X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
2813,Q8IWY9,R,W,1042,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.09,,,,,,,,,753,1495,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.85,probably_damaging,0.993,deleterious,0,3.29558,17.07,Q8IWY9_R1042W,R,W,1042,RW,R1042W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.54,-5.285,3.745,,,,,,1.013,,56.56,0.00189493,0,0.0646209,0.830782
3007,Q96S06,Y,X,202,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.12,,,,,,,,,768,802,ENSG00000103227,ENST00000543238,,LMF1,0.61,,,,,5.83199,36,Q96S06_Y202X,Y,X,202,YX,Y202X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
3008,P35346,R,W,240,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.2,0.002,0.001,0.002,0.001,,0.01,,0.001,717,1864,ENSG00000162009,ENST00000293897,CCDS10429.1,SSTR5,0.66,probably_damaging,0.997,deleterious,0,1.85406,12.16,P35346_R240W,R,W,240,RW,R240W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.739,-5.239,3.5,,,,,,0.427,,77.75,0.00302215,0,0.103062,0.847989
3079,P33076,E,X,381,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.05,,,,,,,,,29302,2255,ENSG00000179583,ENST00000324288,CCDS10544.1,CIITA,0.34,,,,,4.54229,24.5,P33076_E381X,E,X,381,EX,E381X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000257927,0,0.00879585,0.980139
3092,O95255,R,R,1459,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.67,0.11,,,,,,,,,5173,471,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.97,,,,,0.094685,4.51,O95255_R1459R,R,R,1459,RR,R1459R,PositiveCharge,PositiveCharge,6.34,6.34,0,174,174,0,173.4,173.4,0,0,,,,,,,,,,,,0.00166686,0,0.0568434,0.926758
3107,O95255,R,C,1339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.07,,,,,,,,,878,4766,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.89,probably_damaging,1,deleterious,0,3.32604,17.19,O95255_R1339C,R,C,1339,RC,R1339C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-0.687,-5.238,4.551,,,,,,,,,0.000483803,0,0.0164987,0.761813
3251,P51168,P,S,662,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.09,,,,,,,,,32135,75,ENSG00000168447,ENST00000307331,,SCNN1B,0.97,probably_damaging,0.999,deleterious,0,4.39573,23.3,P51168_P662S,P,S,662,PS,P662S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,,,,0.954036
3268,P49411,R,Q,339,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.09,,,,,,,,,1,56,ENSG00000178952,ENST00000313511,CCDS10642.1,TUFM,0.75,probably_damaging,0.981,deleterious,0,4.57766,24.9,P49411_R339Q,R,Q,339,RQ,R339Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
3359,P04180,R,W,159,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.15,,,,,,,,,142,320,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.36,probably_damaging,0.987,deleterious,0,3.37135,17.37,P04180_R159W,R,W,159,RW,R159W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.331,-5.133,3.802,,,,,,0.197,,35.91,0.00262269,0,0.0894393,0.817154
3377,Q9GZX3,K,R,174,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.17,,,,,,,,,3412,880,ENSG00000183196,ENST00000390664,CCDS10918.1,CHST6,0.44,probably_damaging,1,deleterious,0,4.41574,23.4,Q9GZX3_K174R,K,R,174,KR,K174R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.012,-2.889,1.877,,,,,,,,,0.000855117,0,0.0291613,0.915043
3431,Q13509,V,M,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,0.063,0.019,0.086,0.09,0.24,0.03,0.004,0.07,367,296,ENSG00000258947,ENST00000555427,,RP11-566K11.2,0.24,benign,0.071,tolerated,0.32,0.180387,4.971,Q13509_V92M,V,M,92,VM,V92M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.000535297,0,0.0182547,1.00472
3522,P04637,R,H,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.15,,,,,,,,,32,29,ENSG00000141510,ENST00000413465,,TP53,0.61,probably_damaging,0.924,tolerated,0.1,5.07974,31,P04637_R175H,R,H,175,RH,R175H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-0.994,-2.449,1.455,0.436,.,B,1.03,0,24.773,24.773,69.97,0.00108454,0,0.0369852,0.925267
3617,O15273,R,Q,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,0,0,0,,,,,,516,385,ENSG00000173991,ENST00000578283,,TCAP,0.44,,,,,2.7513,15.16,O15273_R63Q,R,Q,63,RQ,R63Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.991,-2.436,0.445,,,,,,18.575,18.575,92.81,0.00669155,0,0.228196,0.97051
3645,P02533,L,Q,419,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.13,,,,,,,,,203,4,ENSG00000186847,ENST00000167586,CCDS11400.1,KRT14,0.89,probably_damaging,0.997,deleterious,0,4.99046,29.3,P02533_L419Q,L,Q,419,LQ,L419Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-0.978,-3.024,2.046,,,,,,11.603,11.603,60.81,0.000758518,0,0.025867,0.888185
3675,P54802,R,W,482,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,,,,,,,,,7517,997,ENSG00000108784,ENST00000225927,CCDS11427.1,NAGLU,0.65,probably_damaging,1,deleterious,0,2.07118,12.88,P54802_R482W,R,W,482,RW,R482W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.101,-5.178,4.077,,,,,,,,,0.000935586,0,0.0319054,0.750266
3690,Q96J92,R,C,1185,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.11,0,0,0,,,,,,15613,800,ENSG00000126562,ENST00000246914,CCDS11439.1,WNK4,0.95,,,deleterious,0,3.00079,16.01,Q96J92_R1185C,R,C,1185,RC,R1185C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.00102075,0,0.0348096,0.701416
3703,Q8N159,A,T,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.21,,,,,,,,,1493,2909,ENSG00000161653,ENST00000293404,CCDS11473.1,NAGS,0.52,benign,0.049,tolerated,0.65,2.1008,12.98,Q8N159_A279T,A,T,279,AT,A279T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.368,-2.104,0.736,,,,,,8.98,8.98,53.93,0.00213819,0,0.0729166,0.993524
3712,P02730,R,W,870,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,,,,,,,,,16936,2821,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.95,probably_damaging,0.996,deleterious,0,3.69406,18.77,P02730_R870W,R,W,870,RW,R870W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.329,-5.482,4.153,,,,,,0.349,,59.39,0.00732377,0,0.249756,0.737528
3819,P02452,G,S,839,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.08,,,,,,,,,880,265,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.57,,,deleterious,0,4.78959,27,P02452_G839S,G,S,839,GS,G839S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,0,,,,1.62e-05,0,0.000551844,0.72721
3848,Q13253,C,Y,184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.23,,,,,,,,,1075,817,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.79,probably_damaging,1,deleterious,0,4.0579,20.8,Q13253_C184Y,C,Y,184,CY,C184Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.353,-3.728,2.375,,.,A,0.25,-1.02,1.908,,28.02,0.00360529,0,0.122948,0.569496
3851,Q13253,W,C,205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.2,,,,,,,,,1139,753,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.88,probably_damaging,0.958,deleterious,0,3.6996,18.79,Q13253_W205C,W,C,205,WC,W205C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.284,-4.783,3.499,0.195,E,b,0.01,-0.15,0.792,,76.29,0.0222129,0.037037,0.757505,0.71213
3926,P48436,F,L,154,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.2,,,,,,,,,1729,3672,ENSG00000125398,ENST00000245479,CCDS11689.1,SOX9,0.3,probably_damaging,0.981,deleterious,0,4.72236,26.3,P48436_F154L,F,L,154,FL,F154L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.241,-2.685,1.444,,,,,,,,,0.00103222,0,0.0352007,0.844988
3928,P48436,H,Y,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.23,,,,,,,,,1760,3641,ENSG00000125398,ENST00000245479,CCDS11689.1,SOX9,0.32,probably_damaging,0.988,deleterious,0,5.38113,34,P48436_H165Y,H,Y,165,HY,H165Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.311,-3.039,1.728,,,,,,,,,0.000878823,0,0.0299697,0.911619
3929,P48436,K,E,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.21,,,,,,,,,1784,3617,ENSG00000125398,ENST00000245479,CCDS11689.1,SOX9,0.34,probably_damaging,0.994,deleterious,0,5.13155,32,P48436_K173E,K,E,173,KE,K173E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.312,-2.76,1.448,,,,,,3.409,,33.01,0.00099594,0,0.0339636,0.915483
3976,P51688,R,Q,433,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.17,,,,,,,,,789,266,ENSG00000181523,ENST00000326317,CCDS11770.1,SGSH,0.86,probably_damaging,1,deleterious,0,5.46311,35,P51688_R433Q,R,Q,433,RQ,R433Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,,,,,,,,,0.00307857,0,0.104986,0.867002
3977,P51688,E,K,369,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.15,,,,,,,,,982,459,ENSG00000181523,ENST00000326317,CCDS11770.1,SGSH,0.74,probably_damaging,1,deleterious,0,5.25042,33,P51688_E369K,E,K,369,EK,E369K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.158,-2.784,1.626,,,,,,,,,0.00288092,0,0.0982454,0.887644
4152,P35613,E,K,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,0,0,0,,,,,,1580,268,ENSG00000172270,ENST00000353555,CCDS12034.1,BSG,0.34,benign,0.222,tolerated,0.12,2.1631,13.19,P35613_E92K,E,K,92,EK,E92K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,,,,0.951087
4161,Q969F8,L,P,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.16,,,,,,,,,1262,2411,ENSG00000116014,ENST00000234371,CCDS12049.1,KISS1R,0.26,possibly_damaging,0.889,tolerated,0.09,3.16791,16.6,Q969F8_L102P,L,P,102,LP,L102P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.266,-2.092,0.826,,,,,,22.375,22.375,45.23,0.00240197,0,0.0819123,0.944348
4297,Q9UM47,C,R,455,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.15,,,,,,,,,11978,29370,ENSG00000074181,ENST00000263388,CCDS12326.1,NOTCH3,0.2,probably_damaging,1,deleterious,0,2.99693,15.99,Q9UM47_C455R,C,R,455,CR,C455R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,,,,,,,,,,,,0.753389
4300,Q9UM47,R,C,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.09,,,,,,,,,8848,32500,ENSG00000074181,ENST00000263388,CCDS12326.1,NOTCH3,0.07,possibly_damaging,0.896,tolerated,0.07,4.71101,26.2,Q9UM47_R169C,R,C,169,RC,R169C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.893,-4.9,3.007,,,,,,0.937,,72.51,,,,0.815006
4661,O95343,V,A,250,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.2,,,,,,,,,980,2699,ENSG00000138083,ENST00000260653,CCDS1821.1,SIX3,0.75,probably_damaging,0.965,deleterious,0,3.10931,16.39,O95343_V250A,V,A,250,VA,V250A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.304,-2.588,1.284,,,,,,,,,,,,0.864262
5165,P21549,L,P,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.08,,,,,,,,,185,2095,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.38,benign,0.177,tolerated,0.05,2.58365,14.6,P21549_L150P,L,P,150,LP,L150P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.814,-3.645,1.831,,E,B,1.07,0.06,44.173,44.173,89.29,0.00435365,0,0.148468,0.801394
5167,P21549,G,R,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.08,0,0,0,,,,,,202,2078,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.4,probably_damaging,0.991,deleterious,0,4.11433,21.2,P21549_G156R,G,R,156,GR,G156R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.207,-4.112,2.905,,E,b,0.91,-0.97,3.091,,89.29,0.00299543,0,0.10215,0.524799
5173,P21549,L,P,166,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.08,,,,,,,,,233,2047,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.42,probably_damaging,1,deleterious,0,3.36348,17.33,P21549_L166P,L,P,166,LP,L166P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.495,-3.293,1.798,0.044,.,A,1.07,0.67,21.077,21.077,62.5,0.00382807,0,0.130545,0.73242
5178,P21549,C,Y,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.04,,,,,,,,,1798,482,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.45,probably_damaging,1,deleterious,0,3.54242,18.07,P21549_C178Y,C,Y,178,CY,C178Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.687,-4.537,2.85,0.019,.,B,0.25,1.02,1.314,,75,0.00397918,0,0.135698,0.748721
5231,P21549,L,P,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.11,,,,,,,,,1880,328,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.98,probably_damaging,0.999,deleterious,0,2.61284,14.7,P21549_L384P,L,P,384,LP,L384P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.053,-4.341,3.288,0.036,H,A,1.07,-0.42,0.883,,47.7,0.00694146,0,0.236718,0.533527
5233,Q8N465,N,D,238,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.07,,,,,,,,,12644,231,ENSG00000180902,ENST00000445308,,D2HGDH,0.75,probably_damaging,0.946,deleterious,0.02,3.16348,16.58,Q8N465_N238D,N,D,238,ND,N238D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,,,,,,,,,,,,0.00350139,0,0.119405,0.979081
5387,O95528,S,R,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.05,,,,,,,,,15792,11048,ENSG00000197496,ENST00000359271,CCDS13402.1,SLC2A10,0.15,probably_damaging,0.976,deleterious,0,3.5108,17.94,O95528_S81R,S,R,81,SR,S81R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.331,-3.713,2.382,,,,,,1.799,,77.45,,,,0.829575
5416,O43526,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.67,0.15,,,,,,,,,57737,1923,ENSG00000075043,ENST00000359689,,KCNQ2,,,,,,2.69205,14.96,O43526_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5508,O95500,V,D,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.16,,,,,,,,,5000,690,ENSG00000159261,ENST00000342108,CCDS13645.1,CLDN14,0.36,probably_damaging,0.99,deleterious,0,4.64684,25.5,O95500_V85D,V,D,85,VD,V85D,Hydrophobic,negativeCharge,5.61,5.05,-0.56,117,133,16,140,111.1,-28.9,152,-1.039,-3.774,2.735,,,,,,,,,,,,0.751844
5516,P35520,L,S,539,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.17,,,,0.001,0.002,,,,5022,131,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.98,probably_damaging,0.94,deleterious,0,4.13398,21.3,P35520_L539S,L,S,539,LS,L539S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.117,-3.388,2.271,,,,,,,,,0.0170857,0,0.582657,0.739953
5519,P35520,P,L,422,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,,,,,,,,,15,350,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.77,possibly_damaging,0.714,tolerated,0.16,2.93272,15.77,P35520_P422L,P,L,422,PL,P422L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,0.158,.,B,1.07,0.16,,,,0.00401174,0,0.136809,0.675592
5520,P35520,K,E,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.11,,,,,,,,,345,23,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.7,probably_damaging,0.961,deleterious,0,3.79469,19.27,P35520_K384E,K,E,384,KE,K384E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.166,-2.767,1.601,0.117,T,b,1.3,-0.33,,,,0.00150055,0,0.0511719,0.691752
5528,P35520,E,K,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.16,,,,,,,,,2141,21,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.26,probably_damaging,0.983,deleterious,0,3.64711,18.54,P35520_E144K,E,K,144,EK,E144K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.289,-2.847,1.558,0.005,E,B,1.3,0.16,7.464,,82.58,0.000477791,0,0.0162937,0.772264
5572,O43272,T,M,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.15,0.003,0.003,0.002,,,,,,3229,5564,ENSG00000100033,ENST00000313755,,PRODH,0.45,probably_damaging,0.952,deleterious,0.02,3.83184,19.46,O43272_T111M,T,M,111,TM,T111M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00157478,0,0.0537034,0.914857
5573,O43272,A,S,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.16,0,0,0.001,,,,,,3195,5598,ENSG00000100033,ENST00000313755,,PRODH,0.41,benign,0.028,tolerated,0.63,0.007703,4.054,O43272_A100S,A,S,100,AS,A100S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,,,,,,,,,,,,0.00194938,0,0.0664779,0.971739
5574,O43272,R,C,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.16,0.009,0.017,0.005,0.01,0.01,0.01,0.03,0.01,3189,5604,ENSG00000100033,ENST00000313755,,PRODH,0.4,probably_damaging,0.998,deleterious,0.02,2.98242,15.94,O43272_R98C,R,C,98,RC,R98C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00197573,0,0.0673764,0.937925
5637,P56693,S,X,251,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.13,,,,,,,,,9271,1844,ENSG00000100146,ENST00000360880,CCDS13964.1,SOX10,0.54,,,,,6.34385,37,P56693_S251X,S,X,251,SX,S251X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.0039249,0,0.133847,0.953542
5638,P56693,Q,X,250,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.12,,,,,,,,,9267,1848,ENSG00000100146,ENST00000360880,CCDS13964.1,SOX10,0.54,,,,,6.55332,37,P56693_Q250X,Q,X,250,QX,Q250X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00382775,0,0.130534,0.955443
5646,O60733,R,W,578,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,,,,,,,,,5374,111,ENSG00000184381,ENST00000335539,CCDS33645.1,PLA2G6,0.77,benign,0.192,deleterious,0,2.66363,14.87,O60733_R578W,R,W,578,RW,R578W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-2.182,-5.203,3.021,,,,,,0.435,,92.93,0.00109358,0,0.0372933,0.843405
5676,Q9NPC4,P,L,251,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.2,0,0,0,0.001,,0.003,,,1787,772,ENSG00000128274,ENST00000381278,CCDS14041.1,A4GALT,0.71,probably_damaging,0.999,deleterious,0.01,4.81529,27.3,Q9NPC4_P251L,P,L,251,PL,P251L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.906,-3.439,2.533,,,,,,,,,0.00225555,0,0.0769189,0.792295
5905,Q13705,R,H,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.15,0.005,0.014,0,0.003,,,0.01,,3907,6021,ENSG00000114739,ENST00000352511,CCDS2679.1,ACVR2B,0.08,possibly_damaging,0.692,deleterious,0.05,4.30842,22.6,Q13705_R40H,R,H,40,RH,R40H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.915,-4.102,2.187,,,,,,2.271,,93.95,0.00111417,0,0.0379956,0.880601
5953,Q03431,H,R,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.23,,,,,,,,,5970,44,ENSG00000160801,ENST00000430002,CCDS2747.1,PTH1R,0.38,probably_damaging,0.977,deleterious,0.01,4.76701,26.7,Q03431_H223R,H,R,223,HR,H223R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.311,-3.26,1.949,,,,,,,,,0.000622277,0,0.0212209,0.901819
5998,P11488,G,D,38,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.11,,,,,,,,,434,35,ENSG00000114349,ENST00000433068,CCDS2812.1,GNAT1,0.11,probably_damaging,1,deleterious,0,5.41859,35,P11488_G38D,G,D,38,GD,G38D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.008,-3.15,2.142,0.161,T,B,0.46,-1.01,,,,0.00264468,0.0160256,0.090189,0.622712
6414,P35475,A,T,168,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.2,,,,,,,,,655,18,ENSG00000127415,ENST00000514224,,IDUA,0.32,probably_damaging,0.977,deleterious,0.03,4.88515,28,P35475_A168T,A,T,168,AT,A168T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.000535462,0,0.0182604,0.995499
6428,P22607,Y,C,278,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.13,,,,,,,,,299,1225,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,0.4,probably_damaging,0.996,tolerated,0.06,3.5317,18.03,P22607_Y278C,Y,C,278,YC,Y278C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.43,-4.673,3.243,,,,,,0.777,,71.71,0.000397535,0,0.0135568,0.89277
6705,O14746,Y,C,846,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,,,,,,,,,14446,2115,ENSG00000164362,ENST00000310581,CCDS3861.2,TERT,0.75,probably_damaging,0.992,deleterious,0,2.29874,13.64,O14746_Y846C,Y,C,846,YC,Y846C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.146,-4.763,3.617,,,,,,0.688,,63.52,0.00101808,0,0.0347188,0.809202
7001,P52952,E,Q,21,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,0.001,0,0.001,,,,,,184,975,ENSG00000183072,ENST00000521848,CCDS54949.1,NKX2-5,0.14,probably_damaging,0.98,deleterious,0,4.35058,22.9,P52952_E21Q,E,Q,21,EQ,E21Q,negativeCharge,Polar,3.22,6.24,3.02,147,146,-1,138.4,143.8,5.4,29,-1.481,-3.351,1.87,,,,,,1.515,,82.1,0.00102668,0,0.0350118,0.963017
7017,Q9UBV7,L,P,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.09,,,,,,,,,140,148,ENSG00000027847,ENST00000029410,CCDS4429.1,B4GALT7,0.63,possibly_damaging,0.713,tolerated,0.06,4.43013,23.6,Q9UBV7_L206P,L,P,206,LP,L206P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.208,-3.84,2.632,,,,,,,,,0.00630163,0,0.214899,0.745066
7019,O75360,W,X,194,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.03,,,,,,,,,3435,573,ENSG00000175325,ENST00000308304,CCDS4430.1,PROP1,0.86,,,,,3.83888,19.5,O75360_W194X,W,X,194,WX,W194X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00396829,0,0.135327,0.931205
7025,O75360,R,H,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.11,,,,,,,,,2013,1995,ENSG00000175325,ENST00000308304,CCDS4430.1,PROP1,0.32,probably_damaging,0.997,deleterious,0,3.85049,19.56,O75360_R73H,R,H,73,RH,R73H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.336,-4.193,2.857,,,,,,0.278,,23.89,0.00109847,0,0.03746,0.801985
7026,O75360,R,C,73,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.11,,,,,,,,,2012,1996,ENSG00000175325,ENST00000308304,CCDS4430.1,PROP1,0.32,probably_damaging,0.998,deleterious,0,3.12972,16.46,O75360_R73C,R,C,73,RC,R73C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.336,-4.898,3.562,,,,,,0.265,,23.89,0.00109847,0,0.03746,0.764246
7040,P35916,P,L,1114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.07,,,,,,,,,293,698,ENSG00000037280,ENST00000261937,CCDS4457.1,FLT4,0.82,probably_damaging,0.999,deleterious,0,4.6348,25.4,P35916_P1114L,P,L,1114,PL,P1114L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,,,,,,,,,0.00116786,0,0.0398265,0.739804
7123,P13942,R,C,974,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.05,,,,,,,,,6131,9068,ENSG00000204248,ENST00000395197,,COL11A2,0.58,,,deleterious,0,2.30852,13.68,P13942_R974C,R,C,974,RC,R974C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.000242746,0,0.00827813,0.954625
7319,O60260,W,X,425,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.15,,,,,,,,,1377530,40,ENSG00000185345,ENST00000366897,CCDS5282.1,PARK2,0.97,,,,,5.26588,33,O60260_W425X,W,X,425,WX,W425X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00814579,0,0.277788,0.88359
7386,P10071,Q,X,1161,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.15,,,,,,,,,186863,1510,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.73,,,,,9.20822,42,P10071_Q1161X,Q,X,1161,QX,Q1161X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000313628,0,0.0106954,0.98231
7435,P20711,G,S,102,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.12,,,,,,,,,103,3538,ENSG00000132437,ENST00000444124,CCDS5511.1,DDC,0.21,probably_damaging,1,deleterious,0,4.26705,22.3,P20711_G102S,G,S,102,GS,G102S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.218,-2.115,0.897,0.023,.,a,0.02,-0.46,18.51,18.51,84.17,0.000429839,0,0.0146584,0.89133
7844,P11362,D,Y,677,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.09,,,,,,,,,182,273,ENSG00000077782,ENST00000326324,CCDS43731.1,FGFR1,0.93,probably_damaging,0.935,deleterious,0,4.4201,23.5,P11362_D677Y,D,Y,677,DY,D677Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,,,,,,,,,,,,0.0004173,0,0.0142308,0.967496
7929,Q6KF10,G,V,42,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.2,0.002,0.005,0,0.002,,,0.01,,225,18238,ENSG00000156466,ENST00000287020,CCDS34926.1,GDF6,0.09,benign,0.019,deleterious,0.01,2.27697,13.57,Q6KF10_G42V,G,V,42,GV,G42V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.26,-3.594,2.334,,,,,,2.179,,88.79,0.000621214,0,0.0211847,0.864714
8029,Q8TDN2,S,W,256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.21,,,,,,,,,1004,11532,ENSG00000168263,ENST00000382082,CCDS6447.1,KCNV2,0.47,probably_damaging,0.975,deleterious,0,3.47713,17.79,Q8TDN2_S256W,S,W,256,SW,S256W,Polar,Hydrophobic,5.68,5.89,0.21,105,204,99,89,227.8,138.8,177,-1.068,-5.178,4.11,,,,,,,,,0.00115102,0,0.039252,0.691988
8065,P07951,E,K,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.09,,,,,,,,,129,921,ENSG00000198467,ENST00000360958,CCDS6587.1,TPM2,0.41,probably_damaging,0.968,deleterious,0,5.35773,34,P07951_E117K,E,K,117,EK,E117K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.404,-2.689,1.285,,,,,0,,,,0.000531433,0,0.018123,0.831514
8088,Q9UBQ7,G,R,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.13,,,,,,,,,19,602,ENSG00000137106,ENST00000377824,,GRHPR,0.41,probably_damaging,0.998,deleterious,0,5.50154,35,Q9UBQ7_G160R,G,R,160,GR,G160R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,0.184,S,l,0.91,0.45,,,,0.00100375,0,0.0342298,0.67764
8250,O60663,R,X,198,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.16,,,,,,,,,78774,3209,ENSG00000136944,ENST00000425646,,LMX1B,0.53,,,,,5.6086,36,O60663_R198X,R,X,198,RX,R198X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8251,O60663,R,Q,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.17,,,,,,,,,78781,3202,ENSG00000136944,ENST00000425646,,LMX1B,0.54,probably_damaging,0.998,deleterious,0,5.77334,36,O60663_R200Q,R,Q,200,RQ,R200Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
8325,Q9UBR4,W,X,229,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.19,,,,,,,,,4404,2476,ENSG00000107187,ENST00000371746,CCDS6995.1,LHX3,0.57,,,,,6.2949,37,Q9UBR4_W229X,W,X,229,WX,W229X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
8469,P51843,R,P,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.13,,,,,,,,,76,2743,ENSG00000169297,ENST00000453287,,NR0B1,0.67,probably_damaging,0.996,deleterious,0.01,3.78976,19.24,P51843_R267P,R,P,267,RP,R267P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.272,-3.792,2.52,,,,,,0.822,,45.11,0.00385839,0,0.131579,0.809267
8470,P51843,L,X,263,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.13,,,,,,,,,88,2755,ENSG00000169297,ENST00000453287,,NR0B1,0.66,,,,,6.62669,37,P51843_L263X,L,X,263,LX,L263X,Hydrophobic,Stop,9.71,5.71,-4,131,132.5,1.5,166.7,141.9,-24.8,,,,,,,,,,,,,0.00368073,0,0.125521,0.957014
8870,P27918,R,W,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.08,,,,,,,,,1689,85,ENSG00000126759,ENST00000377005,,CFP,0.24,probably_damaging,1,deleterious,0,3.94993,20.2,P27918_R100W,R,W,100,RW,R100W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,0,,,,0.00115549,0,0.0394047,0.686983
9024,Q92838,R,G,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.15,,,,,,,,,384,53760,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.17,,,deleterious,0,2.56396,14.53,Q92838_R65G,R,G,65,RG,R65G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.398,-3.094,1.696,,,,,,,,,0.00022124,0,0.00754476,0.870319
9025,Q92838,R,L,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.16,0.004,0.001,0.005,0.001,,0.01,,,397,53747,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.18,,,deleterious,0,2.60327,14.67,Q92838_R69L,R,L,69,RL,R69L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.638,-3.224,1.586,,,,,,3.357,,71.1,0.000205476,0,0.00700715,1.04678
9563,O60481,P,A,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.67,0.21,0.007,0.021,0,0.003,,,0.01,,822,4246,ENSG00000156925,ENST00000287538,CCDS14663.1,ZIC3,0.46,benign,0,deleterious,0.05,2.31168,13.69,O60481_P217A,P,A,217,PA,P217A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-2.04,-3.008,0.968,,,,,,3.8,,89.94,0.00185186,0,0.0631522,0.987485
9688,P33897,R,X,132,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.67,0.08,,,,,,,,,1166,884,ENSG00000101986,ENST00000443684,,ABCD1,0.59,,,,,2.19562,13.3,P33897_R132X,R,X,132,RX,R132X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00194562,0,0.0663497,0.959275
5,Q9UP52,A,V,75,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.05,,,,0.001,0.004,,,,477,1235,ENSG00000106327,ENST00000462107,CCDS34707.1,TFR2,0.09,benign,0.241,deleterious,0,3.48056,17.81,Q9UP52_A75V,A,V,75,AV,A75V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.788,-2.388,0.6,,,,,,23.058,23.058,85.64,0.000531102,0,0.0210039,1.01548
7,Q9UP52,I,M,238,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.19,0.043,0.125,0,0.05,0.07,0.003,0.12,0.001,137,472,ENSG00000106327,ENST00000431692,,TFR2,0.67,possibly_damaging,0.737,tolerated,0.15,2.34697,13.81,Q9UP52_I238M,I,M,238,IM,I238M,Hydrophobic,Hydrophobic,6.02,5.74,-0.28,131,149,18,166.7,162.9,-3.8,10,-3.215,-4.99,1.775,,,,,,1.778,,71.16,0.00144699,0,0.0572254,1.06917
12,Q9P202,M,T,613,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.09,0.492,0.387,0.546,0.49,0.53,0.54,0.37,0.51,19319,4672,ENSG00000095397,ENST00000362057,CCDS6806.1,DFNB31,0.68,benign,0,tolerated,0.59,-2.0695,0.006,Q9P202_M613T,M,T,613,MT,M613T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-4.65,-2.618,-2.032,,,,,,22.748,22.748,64.17,0.00109069,0,0.0431342,1.02372
109,Q8NBP7,G,E,670,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.15,0.889,0.743,0.965,0.9,0.95,0.96,0.71,0.96,12580,75,ENSG00000169174,ENST00000302118,CCDS603.1,PCSK9,0.97,benign,0,tolerated,1,-1.38831,0.024,Q8NBP7_G670E,G,E,670,GE,G670E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-2.082,-2.026,-0.056,,,,,,27.688,27.688,90.46,0.00775964,0,0.306877,0.982751
186,P49748,E,K,154,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.11,0.01,0.03,0,0.003,,,0.01,,102,129,ENSG00000072778,ENST00000542255,,ACADVL,0.55,,,,,1.22292,9.961,P49748_E154K,E,K,154,EK,E154K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00179546,0,0.0710066,0.960375
247,P21817,K,R,3367,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.13,,,,,,,,,85595,68270,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.67,,,,,1.09584,9.472,P21817_K3367R,K,R,3367,KR,K3367R,PositiveCharge,PositiveCharge,9.74,6.34,-3.4,146,174,28,168.6,173.4,4.8,26,-1.468,-2.415,0.947,,,,,,9.164,9.164,52.12,,,,0.905759
265,P21817,S,L,427,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.16,,,,,,,,,19154,134711,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.08,benign,0.043,,,2.36746,13.87,P21817_S427L,S,L,427,SL,S427L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-2.14,-2.722,0.582,,,,,,10.279,10.279,17.67,,,,0.898409
275,P21549,N,S,22,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.05,0.024,0.07,0.001,0.04,0.09,0.003,0.08,0.001,84,4539,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.06,benign,0,tolerated,0.95,-2.16205,0.005,P21549_N22S,N,S,22,NS,N22S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-2.534,-2.413,-0.121,0.825,.,B,0.34,-0.26,18.626,18.626,93.37,0.00209518,0,0.08286,0.960503
276,P21549,P,H,11,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.05,,,,,,,,,51,4572,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.03,probably_damaging,0.997,deleterious,0,2.4796,14.25,P21549_P11H,P,H,11,PH,P11H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-0.886,-4.679,3.793,0.023,.,B,0.35,-0.25,1.32,,43.11,0.00188989,0,0.074741,0.61115
277,P21549,R,K,381,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.11,0,0,0.001,0.001,,,,0.001,1871,337,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.97,benign,0,tolerated,0.83,-1.21404,0.065,P21549_R381K,R,K,381,RK,R381K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,-2.326,-2.062,-0.264,0.436,H,A,1.14,0.77,24.173,24.173,93.37,0.0217345,0,0.859554,1.02206
278,P21549,T,N,9,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.04,0.007,0.002,0.009,0.004,,0.01,,0.01,45,4578,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.02,benign,0.007,deleterious,0.04,0.279223,5.511,P21549_T9N,T,N,9,TN,T9N,Polar,Polar,5.6,5.47,-0.13,119,132,13,116.1,114.1,-2,65,-2.392,-3.957,1.565,0.662,.,B,0.39,0,4.559,,93.37,0.00244068,0,0.0965238,0.901583
304,P07101,V,M,81,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.12,0.288,0.142,0.363,0.42,0.77,0.35,0.11,0.38,995,2827,ENSG00000180176,ENST00000352909,CCDS7730.1,TH,0.16,benign,0.024,tolerated,0.31,2.31093,13.68,P07101_V81M,V,M,81,VM,V81M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00164324,0,0.0649864,0.927218
369,O75462,R,H,81,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.68,0.11,0,0,0,,,,,,7131,6493,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,0.19,possibly_damaging,0.49,tolerated,0.26,2.86214,15.53,O75462_R81H,R,H,81,RH,R81H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.217,-3.734,1.517,,,,,,20.806,20.806,60.19,0.00163717,0,0.0647467,0.955847
2,O60683,H,Q,290,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,6005,8,ENSG00000157911,ENST00000447513,CCDS44045.1,PEX10,0.89,probably_damaging,0.999,deleterious,0,3.92229,19.95,O60683_H290Q,H,Q,290,HQ,H290Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.124,-3.53,2.406,,,,,,,,,0.00491814,0,0.167719,0.794014
12,B1AK53,R,Q,118,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.08,,,,,,,,,375,143,ENSG00000187017,ENST00000434576,,ESPN,0.63,benign,0.156,tolerated,0.11,3.82017,19.4,B1AK53_R118Q,R,Q,118,RQ,R118Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
69,P51800,Q,X,260,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.08,,,,,,,,,593,836,ENSG00000186510,ENST00000331433,CCDS167.1,CLCNKA,0.38,,,,,3.33648,17.23,P51800_Q260X,Q,X,260,QX,Q260X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00104174,0,0.0355255,0.912628
76,P29317,G,W,948,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,30784,967,ENSG00000142627,ENST00000358432,CCDS169.1,EPHA2,0.97,probably_damaging,1,deleterious,0,4.4603,23.8,P29317_G948W,G,W,948,GW,G948W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-0.861,-4.874,4.013,,,,,,,,,0.0100897,0,0.344079,0.71778
104,P05186,R,H,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.15,0,0,0,,,,,,9137,993,ENSG00000162551,ENST00000539907,CCDS53274.1,ALPL,0.13,benign,0.263,tolerated,0.47,2.18377,13.26,P05186_R59H,R,H,59,RH,R59H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.000570025,0,0.019439,1.00233
117,P56705,A,V,114,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,21418,1521,ENSG00000162552,ENST00000290167,CCDS223.1,WNT4,0.32,probably_damaging,0.99,deleterious,0,5.59764,35,P56705_A114V,A,V,114,AV,A114V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,0.00126353,0,0.0430889,0.832117
135,P04066,Q,X,82,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.21,,,,,,,,,252,22966,ENSG00000179163,ENST00000374479,CCDS244.2,FUCA1,0.18,,,,,2.81614,15.38,P04066_Q82X,Q,X,82,QX,Q82X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00410001,0,0.139819,0.955443
170,P25067,L,W,450,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.04,,,,,,,,,1918,825,ENSG00000171812,ENST00000303143,CCDS403.1,COL8A2,0.64,,,deleterious,0.02,1.418,10.68,P25067_L450W,L,W,450,LW,L450W,Hydrophobic,Hydrophobic,9.71,5.89,-3.82,131,204,73,166.7,227.8,61.1,61,-2.1,-5.233,3.133,,,,,,0.404,,82.79,7.18e-05,0,0.00244724,0.85708
191,Q96PL5,G,R,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,0.002,0,0.003,,,,,,936,14133,ENSG00000164010,ENST00000372517,CCDS475.1,ERMAP,0.12,benign,0.268,tolerated,0.52,0.657714,7.526,Q96PL5_G57R,G,R,57,GR,G57R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-2.099,-3.774,1.675,,,,,,5.652,,79.79,0.0011724,0,0.0399813,0.941128
271,P09758,L,P,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.23,,,,,,,,,895,1173,ENSG00000184292,ENST00000371225,CCDS609.1,TACSTD2,0.58,probably_damaging,0.994,deleterious,0,3.12167,16.43,P09758_L186P,L,P,186,LP,L186P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00339775,0,0.11587,0.77051
373,Q6ZVN8,L,P,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,2204,22,ENSG00000168509,ENST00000336751,CCDS910.1,HFE2,0.24,probably_damaging,0.999,tolerated,0.05,4.48669,24,Q6ZVN8_L101P,L,P,101,LP,L101P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00152428,0,0.0519812,0.716354
486,P50336,I,T,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,42,1147,ENSG00000143224,ENST00000367999,CCDS1221.1,PPOX,0.03,probably_damaging,0.999,deleterious,0,5.02147,29.6,P50336_I12T,I,T,12,IT,I12T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.396,-3.192,1.796,0.105,H,A,0.7,-1.11,1.894,,37.95,0.00267387,0,0.0911843,0.649582
730,Q8NI60,G,D,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.16,,,,,,,,,897,4658,ENSG00000163050,ENST00000366779,CCDS1557.1,ADCK3,0.42,probably_damaging,0.996,deleterious,0,4.95372,28.8,Q8NI60_G272D,G,D,272,GD,G272D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.861,-3.246,2.385,,,,,,,,,0.000680701,0,0.0232133,0.808386
731,Q8NI60,G,V,272,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.16,,,,,,,,,897,4658,ENSG00000163050,ENST00000366779,CCDS1557.1,ADCK3,0.42,probably_damaging,0.996,deleterious,0,4.67743,25.8,Q8NI60_G272V,G,V,272,GV,G272V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.861,-3.531,2.67,,,,,,,,,0.000680701,0,0.0232133,0.802014
735,Q5T442,P,S,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.24,,,,,,,,,8174,1801,ENSG00000198835,ENST00000366714,CCDS1569.1,GJC2,0.21,probably_damaging,0.999,deleterious,0,2.43736,14.11,Q5T442_P90S,P,S,90,PS,P90S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.414,-3.192,1.778,,,,,,5.715,,81.09,0.000280306,0,0.00955902,0.973263
741,P68133,P,S,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.19,,,,,,,,,2462,383,ENSG00000143632,ENST00000366683,,ACTA1,0.85,probably_damaging,0.991,,,1.66064,11.51,P68133_P246S,P,S,246,PS,P246S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,,,,,,,,,,,,0.000451981,0,0.0154135,0.994616
754,P01019,Q,X,202,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.05,,,,,,,,,4051,452,ENSG00000135744,ENST00000366667,CCDS1585.1,AGT,0.42,,,,,2.55056,14.49,P01019_Q202X,Q,X,202,QX,Q202X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00242338,0,0.0826423,0.964034
878,P11161,I,N,268,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.08,,,,,,,,,2521,599,ENSG00000122877,ENST00000439032,CCDS7267.1,EGR2,0.56,benign,0.356,deleterious,0,2.13443,13.09,P11161_I268N,I,N,268,IN,I268N,Hydrophobic,Polar,6.02,5.47,-0.55,131,132,1,166.7,114.1,-52.6,149,-1.313,-3.9,2.587,,,,,,,,,0.000613977,0,0.0209379,0.808688
897,P14222,Q,X,64,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.12,,,,,,,,,2047,3364,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.12,,,,,2.85461,15.51,P14222_Q64X,Q,X,64,QX,Q64X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0019827,0,0.0676141,0.963541
898,P14222,R,H,4,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.07,0.027,0.079,0,0.02,,0.01,0.09,,1868,3543,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.01,possibly_damaging,0.503,tolerated,0.2,2.80565,15.34,P14222_R4H,R,H,4,RH,R4H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.449,-2.566,0.117,,,,,,26.6,26.6,87.57,0.000319011,0,0.0108789,1.0244
947,O75112,K,M,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,18415,12935,ENSG00000122367,ENST00000372056,CCDS53549.1,LDB3,0.61,probably_damaging,0.972,deleterious,0,4.57907,24.9,O75112_K243M,K,M,243,KM,K243M,PositiveCharge,Hydrophobic,9.74,5.74,-4,146,149,3,168.6,162.9,-5.7,95,,,,,,,,,,,,0.000759,0,0.0258835,0.990406
967,Q9UNW1,S,L,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.24,,,,,,,,,162,48352,ENSG00000107789,ENST00000371996,CCDS7384.1,MINPP1,0.08,benign,0.063,tolerated,0.06,1.66683,11.53,Q9UNW1_S41L,S,L,41,SL,S41L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.944,-2.393,0.449,,,,,,30.612,30.612,87.06,0.00166029,0,0.0566194,0.993731
1040,P55075,F,L,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,733,4844,ENSG00000107831,ENST00000344255,CCDS7517.1,FGF8,0.17,benign,0.001,tolerated,0.18,1.78067,11.91,P55075_F40L,F,L,40,FL,F40L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-2.463,-1.913,-0.55,,,,,,28.365,28.365,89.7,0.00201665,0,0.0687718,1.01528
1043,O75364,S,N,13,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,,,,,,,,,41,1857,ENSG00000107859,ENST00000539804,CCDS7532.1,PITX3,0.04,benign,0.343,tolerated,0.18,4.40211,23.3,O75364_S13N,S,N,13,SN,S13N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.348,-2.958,1.61,,,,,,,,,0.00195371,0,0.0666254,0.901657
1175,P07101,T,M,463,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.16,,,,,,,,,7457,409,ENSG00000180176,ENST00000352909,CCDS7730.1,TH,0.93,probably_damaging,0.99,deleterious,0,3.0236,16.09,P07101_T463M,T,M,463,TM,T463M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00232393,0,0.0792507,0.975242
1238,P17405,G,R,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,0,0,0,,,,,,83,248,ENSG00000166311,ENST00000527275,CCDS31409.2,SMPD1,0.39,probably_damaging,1,deleterious,0,4.75799,26.6,P17405_G243R,G,R,243,GR,G243R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00308259,0,0.105122,0.945499
1319,Q9NPI8,Y,X,109,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.16,,,,,,,,,159,340,ENSG00000183161,ENST00000327470,CCDS7857.1,FANCF,0.29,,,,,3.96364,20.3,Q9NPI8_Y109X,Y,X,109,YX,Y109X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
1385,Q9H161,Q,X,140,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.2,,,,,,,,,522,49201,ENSG00000052850,ENST00000329255,CCDS31468.1,ALX4,0.34,,,,,5.42657,35,Q9H161_Q140X,Q,X,140,QX,Q140X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00205532,0,0.0700906,0.963541
1460,Q96S37,L,R,197,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,8595,1694,ENSG00000197891,ENST00000473690,CCDS8076.1,SLC22A12,0.59,probably_damaging,0.969,tolerated,0.26,1.27267,10.16,Q96S37_L197R,L,R,197,LR,L197R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,,,,,,,,,,,,0.00335095,0,0.114274,0.952472
1481,O00255,L,R,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,88,375,ENSG00000133895,ENST00000443283,CCDS8083.1,MEN1,0.04,probably_damaging,0.993,deleterious,0,3.99939,20.5,O00255_L22R,L,R,22,LR,L22R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.265,-4.132,2.867,,,,,,0.86,,39.67,0.0015575,0,0.0531139,0.808244
1510,Q9UBD9,C,R,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,,,,,,,,,41,2569,ENSG00000175505,ENST00000312438,CCDS31617.1,CLCF1,0.07,benign,0.347,deleterious,0,3.40628,17.5,Q9UBD9_C16R,C,R,16,CR,C16R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,0.004425,0,0.150902,0.746717
1591,Q9UBM7,E,K,198,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.17,,,,,,,,,3499,153,ENSG00000172893,ENST00000533800,,DHCR7,0.9,probably_damaging,0.946,deleterious,0,5.04325,29.9,Q9UBM7_E198K,E,K,198,EK,E198K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00288609,0,0.0984218,0.963428
1593,Q9UBM7,G,R,186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,,,,,,,,,3212,66,ENSG00000172893,ENST00000525137,,DHCR7,0.76,,,,,2.90542,15.68,Q9UBM7_G186R,G,R,186,GR,G186R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00397544,0,0.135571,0.945499
1758,Q03393,R,C,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,57,3016,ENSG00000150787,ENST00000280362,CCDS8359.1,PTS,0.11,probably_damaging,0.921,deleterious,0,4.01143,20.6,Q03393_R16C,R,C,16,RC,R16C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.572,-2.258,0.686,0.256,E,B,1.66,0.85,31.664,31.664,65.52,0.00651321,0,0.222114,0.862796
1883,Q9GZV9,R,W,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,9165,2337,ENSG00000118972,ENST00000237837,CCDS8526.1,FGF23,0.71,probably_damaging,0.983,deleterious,0,2.86878,15.56,Q9GZV9_R179W,R,W,179,RW,R179W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.101,-5.178,4.077,,,,,,,,,0.0055649,0.0138889,0.189774,0.737066
1884,Q9GZV9,R,Q,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.19,,,,,,,,,9157,2345,ENSG00000118972,ENST00000237837,CCDS8526.1,FGF23,0.7,probably_damaging,0.998,tolerated,0.13,3.23429,16.84,Q9GZV9_R176Q,R,Q,176,RQ,R176Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.00600972,0.0133333,0.204944,0.804005
2133,P05787,Y,H,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.15,0.005,0.015,0,0.003,,,0.01,,223,146,ENSG00000170421,ENST00000546826,,KRT8,0.2,benign,0.03,tolerated,0.17,0.54318,6.94,P05787_Y54H,Y,H,54,YH,Y54H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.685,-4.035,2.35,,,,,,1.564,,91.51,0.00134602,0,0.0459022,0.877382
2319,#N/A,R,W,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.16,,,,,,,,,203,14516,ENSG00000182500,ENST00000330079,CCDS41851.1,ORAI1,0.31,probably_damaging,0.996,deleterious,0,4.66689,25.7,#N/A_R93W,R,W,93,RW,R93W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,,,,0.948958
2584,P43699,Q,X,249,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.17,,,,,,,,,1783,522,ENSG00000136352,ENST00000354822,CCDS41945.1,NKX2-1,0.62,,,,,5.71188,36,P43699_Q249X,Q,X,249,QX,Q249X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
2621,P06737,Q,P,13,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,91,21129,ENSG00000100504,ENST00000216392,CCDS32080.1,PYGL,0.02,probably_damaging,0.992,deleterious,0,4.58447,24.9,P06737_Q13P,Q,P,13,QP,Q13P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.618,-3.535,1.917,0.79,G,A,0.12,-0.2,1.515,,83.12,0.000713235,0,0.0243228,0.932752
2812,Q8IWY9,D,V,1043,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,,,,,,,,,749,1491,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.85,probably_damaging,0.965,deleterious,0.04,3.82243,19.41,Q8IWY9_D1043V,D,V,1043,DV,D1043V,negativeCharge,Hydrophobic,5.05,5.61,0.56,133,117,-16,111.1,140,28.9,152,-1.969,-3.717,1.748,,,,,,3.228,,56.56,0.00164147,0,0.0559774,0.921068
2881,P23284,M,R,9,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,46,3687,ENSG00000166794,ENST00000300026,CCDS10191.1,PPIB,0.04,possibly_damaging,0.818,deleterious,0,3.59878,18.32,P23284_M9R,M,R,9,MR,M9R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.803,-3.24,1.437,,,,,,8.933,,83.33,0.00562338,0.00966184,0.191769,0.964178
2932,Q9BX79,T,M,659,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,0,0,0,,,,,,927,11,ENSG00000137868,ENST00000574278,,STRA6,0.97,probably_damaging,0.999,deleterious,0,4.46316,23.8,Q9BX79_T659M,T,M,659,TM,T659M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,,,,0.953797
2949,P16930,N,I,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,204,9383,ENSG00000103876,ENST00000561421,CCDS10314.1,FAH,0.04,probably_damaging,1,deleterious,0,5.39528,34,P16930_N16I,N,I,16,NI,N16I,Polar,Hydrophobic,5.47,6.02,0.55,132,131,-1,114.1,166.7,52.6,149,-1.26,-3.746,2.486,,T,a,1.09,-0.66,,,,0.000542183,0,0.0184896,0.591282
2984,P54098,R,P,3,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,503,1418,ENSG00000140521,ENST00000442287,CCDS10350.1,POLG,0,possibly_damaging,0.506,deleterious,0,4.64939,25.5,P54098_R3P,R,P,3,RP,R3P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.555,-3.61,2.055,,,,,,2.002,,68.77,0.000149856,0,0.0051104,0.872313
3006,P69905,V,M,31,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,272,248,ENSG00000188536,ENST00000397806,,HBA2,0.28,probably_damaging,0.993,deleterious,0,2.52608,14.41,P69905_V31M,V,M,31,VM,V31M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00712307,0.00900901,0.242911,0.960107
3032,P98161,W,X,4140,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.09,,,,,,,,,25,114,ENSG00000008710,ENST00000262304,CCDS32369.1,PKD1,0.96,,,,,23.6813,55,P98161_W4140X,W,X,4140,WX,W4140X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
3033,P98161,C,X,4087,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.09,,,,,,,,,184,273,ENSG00000008710,ENST00000262304,CCDS32369.1,PKD1,0.95,,,,,19.6359,52,P98161_C4087X,C,X,4087,CX,C4087X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
3091,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.68,0.09,,,,,,,,,5210,434,,ENSR00000148196,,,,,,,,0.516259,6.798,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
3101,O95255,D,N,1361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,,,,,,,,,1022,4622,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.91,probably_damaging,1,deleterious,0,3.98687,20.4,O95255_D1361N,D,N,1361,DN,D1361N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.669,-3.451,2.782,,,,,,0.098,,3.33,0.000561764,0,0.0191573,0.800595
3102,O95255,R,W,1357,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,,,,,,,,,1010,4634,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.9,probably_damaging,1,deleterious,0,2.89879,15.66,O95255_R1357W,R,W,1357,RW,R1357W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.942,-5.538,4.596,,,,,,0.521,,78.44,0.000641496,0,0.0218763,0.82245
3103,O95255,G,R,1354,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,,,,,,,,,1001,4643,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.9,probably_damaging,1,deleterious,0,4.25665,22.2,O95255_G1354R,G,R,1354,GR,G1354R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.804,-4.082,3.278,,,,,,1.745,,42.65,0.00074398,0,0.0253712,0.820855
3104,O95255,I,L,1350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,989,4655,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.9,benign,0.051,deleterious,0.01,2.4323,14.09,O95255_I1350L,I,L,1350,IL,I1350L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,-1.574,-2.988,1.414,,,,,,12.125,,92.75,0.00102044,0,0.0347991,0.974358
3105,O95255,P,S,1346,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.08,,,,,,,,,899,4745,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.9,probably_damaging,0.999,deleterious,0,4.76052,26.7,O95255_P1346S,P,S,1346,PS,P1346S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.637,-3.564,2.927,,,,,,2.035,,19.96,0.000311588,0,0.0106258,0.841851
3108,O95255,V,V,1333,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.68,0.07,,,,,,,,,862,4782,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.89,,,,,1.08487,9.428,O95255_V1333V,V,V,1333,VV,V1333V,Hydrophobic,Hydrophobic,5.61,5.61,0,117,117,0,140,140,0,0,,,,,,,,,,,,0.00092484,0,0.031539,1.00426
3109,O95255,D,D,1326,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.68,0.08,0.001,0.002,0,,,,,,841,4803,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.88,,,,,-0.014036,3.942,O95255_D1326D,D,D,1326,DD,D1326D,negativeCharge,negativeCharge,5.05,5.05,0,133,133,0,111.1,111.1,0,0,,,,,,,,,,,,0.000510869,0,0.0174217,1.00426
3110,O95255,W,X,1324,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.08,,,,,,,,,834,4810,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.88,,,,,8.42817,40,O95255_W1324X,W,X,1324,WX,W1324X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000633232,0,0.0215945,0.956807
3111,O95255,G,S,1321,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,824,4820,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.88,probably_damaging,0.99,deleterious,0,3.29353,17.06,O95255_G1321S,G,S,1321,GS,G1321S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.558,-3.349,2.791,,,,,,2.464,,42.91,0.000408852,0,0.0139427,0.848671
3157,O95255,G,R,992,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,,,,,,,,,53768,19534,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.66,probably_damaging,0.999,deleterious,0,3.9214,19.95,O95255_G992R,G,R,992,GR,G992R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.155,-4.113,2.958,,,,,,3.951,,78.84,0.000527848,0,0.0180007,0.839236
3158,O95255,L,L,968,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.68,0.11,0.001,0,0.002,0.001,,,,0.001,53698,19604,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.64,,,,,1.30783,10.28,O95255_L968L,L,L,968,LL,L968L,Hydrophobic,Hydrophobic,9.71,9.71,0,131,131,0,166.7,166.7,0,0,,,,,,,,,,,,0.00015985,0,0.0054512,1.00522
3252,P51168,Y,H,665,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.08,,,,,,,,,32144,66,ENSG00000168447,ENST00000307331,,SCNN1B,0.97,probably_damaging,0.999,deleterious,0,4.13071,21.3,P51168_Y665H,Y,H,665,YH,Y665H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,,,,0.949803
3360,P04180,N,D,155,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,,,,,,,,,154,332,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.35,benign,0.296,tolerated,0.24,1.89096,12.28,P04180_N155D,N,D,155,ND,N155D,Polar,negativeCharge,5.47,5.05,-0.42,132,133,1,114.1,111.1,-3,23,-2.031,-3.586,1.555,,,,,,1.049,,54.77,0.00349074,0,0.119042,0.956584
3361,P04180,T,I,147,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,0,0,0,,,,,,148,355,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.33,possibly_damaging,0.494,deleterious,0.02,3.26366,16.95,P04180_T147I,T,I,147,TI,T147I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.327,-3.253,1.926,,,,,,9.292,,56.59,0.00355373,0,0.121189,0.934312
3364,P04180,P,L,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,131,327,ENSG00000213398,ENST00000264005,CCDS10854.1,LCAT,0.08,probably_damaging,0.935,deleterious,0,4.11151,21.2,P04180_P34L,P,L,34,PL,P34L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.247,-2.051,0.804,,,,,,13.484,13.484,35.91,0.00135211,0,0.0461096,0.908455
3376,Q9GZX3,L,R,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.24,,,,,,,,,3334,802,ENSG00000183196,ENST00000390664,CCDS10918.1,CHST6,0.51,probably_damaging,1,deleterious,0,4.04114,20.7,Q9GZX3_L200R,L,R,200,LR,L200R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-0.972,-3.789,2.817,,,,,,,,,0.00124954,0,0.0426118,0.717567
3406,P07741,M,T,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.04,,,,,,,,,435,98,ENSG00000198931,ENST00000563655,,APRT,0.71,possibly_damaging,0.6,deleterious,0,2.76391,15.2,P07741_M109T,M,T,109,MT,M109T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,,,,,,,,,,,,0.00928133,0,0.316512,0.933149
3408,P07741,W,X,98,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.07,,,,,,,,,52,714,ENSG00000198931,ENST00000426324,CCDS45546.1,APRT,0.73,,,,,1.22658,9.975,P07741_W98X,W,X,98,WX,W98X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00897637,0,0.306113,0.881516
3410,P34059,N,S,412,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,27596,3706,ENSG00000141012,ENST00000542788,,GALNS,0.92,possibly_damaging,0.863,tolerated,0.08,3.87125,19.67,P34059_N412S,N,S,412,NS,N412S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,,,,,,,,,,,,0.00482876,0.00909091,0.164671,0.956546
3574,Q9UKN7,T,I,2205,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,0.003,0,0.004,0.001,,,,0.004,2119,1843,ENSG00000091536,ENST00000205890,CCDS42271.1,MYO15A,0.62,,,deleterious,0.01,3.04352,16.16,Q9UKN7_T2205I,T,I,2205,TI,T2205I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.481,-3.631,2.15,,,,,,1.894,,62.92,,,,0.833784
3616,O15273,Q,X,53,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.07,,,,,,,,,413,488,ENSG00000173991,ENST00000578283,,TCAP,0.37,,,,,4.24163,22.1,O15273_Q53X,Q,X,53,QX,Q53X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00952228,0,0.324729,0.917573
3705,Q8N159,L,P,430,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.15,0,0,0,,,,,,2947,1455,ENSG00000161653,ENST00000293404,CCDS11473.1,NAGS,0.81,probably_damaging,0.968,deleterious,0,4.73264,26.4,Q8N159_L430P,L,P,430,LP,L430P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.529,-3.964,2.435,,,,,,0.8,,53.93,0.00364549,0,0.124319,0.841503
3713,P02730,P,L,868,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,0,0,0,,,,,,16931,2826,ENSG00000004939,ENST00000262418,CCDS11481.1,SLC4A1,0.95,probably_damaging,0.999,deleterious,0,4.82856,27.4,P02730_P868L,P,L,868,PL,P868L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.122,-3.247,2.125,,,,,,8.401,,35.68,0.0088382,0,0.301401,0.785196
3748,P08514,I,S,874,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.07,0.38,0.39,0.374,0.4,0.42,0.36,0.43,0.4,13809,3514,ENSG00000005961,ENST00000353281,,ITGA2B,0.87,benign,0,tolerated,0.19,1.71718,11.7,P08514_I874S,I,S,874,IS,I874S,Hydrophobic,Polar,6.02,5.68,-0.34,131,105,-26,166.7,89,-77.7,142,-3.441,-1.915,-1.526,,,,,,16.129,16.129,84.89,0.00335674,0.00606061,0.114472,0.996037
3755,P08514,Q,X,558,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.08,,,,,,,,,5239,25,ENSG00000005961,ENST00000353281,,ITGA2B,0.56,,,,,4.12546,21.3,P08514_Q558X,Q,X,558,QX,Q558X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000921946,0,0.0314403,0.98231
3817,P02452,G,D,851,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.08,,,,,,,,,917,302,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.58,,,deleterious,0,4.1676,21.6,P02452_G851D,G,D,851,GD,G851D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,,,,,0,,,,1.58e-05,0,0.000538125,0.661018
3818,P02452,G,R,845,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.08,,,,,,,,,898,283,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.58,,,deleterious,0,4.38361,23.2,P02452_G845R,G,R,845,GR,G845R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.921,-3.668,2.747,,,,,0,,,,1.6e-05,0,0.000545051,0.639147
3825,P02452,G,C,704,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,635,62,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.48,probably_damaging,1,deleterious,0,4.53874,24.5,P02452_G704C,G,C,704,GC,G704C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.763,-4.943,4.18,,,,,0,,,,0.000213066,0,0.00726597,0.653973
3852,Q13253,W,G,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.19,,,,,,,,,1173,719,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.94,probably_damaging,0.999,deleterious,0,3.67556,18.68,Q13253_W217G,W,G,217,WG,W217G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.111,-3.175,2.064,0.118,E,B,0.76,-0.07,,,,0.0222574,0,0.759022,0.628762
3853,Q13253,Y,D,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,1188,704,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.96,probably_damaging,0.965,deleterious,0,3.86187,19.62,Q13253_Y222D,Y,D,222,YD,Y222D,Hydrophobic,negativeCharge,5.66,5.05,-0.61,181,133,-48,193.6,111.1,-82.5,160,-1.262,-3.789,2.527,0.144,E,B,0.96,-0.9,1.233,,76.29,0.0287748,0,0.981279,0.59546
3854,Q13253,Y,C,222,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,1189,703,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.96,benign,0.173,deleterious,0,2.39808,13.98,Q13253_Y222C,Y,C,222,YC,Y222C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.262,-2.415,1.153,0.144,E,B,0.25,-0.9,36.872,36.872,76.29,0.0287748,0,0.981279,0.75935
3855,Q13253,P,L,223,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.19,,,,,,,,,1192,700,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.96,probably_damaging,1,deleterious,0,4.48036,24,Q13253_P223L,P,L,223,PL,P223L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.966,-3.4,2.434,0.241,E,B,1.07,-1.02,,,,0.0234241,0,0.79881,0.603469
3876,P12821,P,L,654,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,,,,,,,,,837,9,ENSG00000159640,ENST00000490216,,ACE,0.88,,,,,2.64395,14.8,P12821_P654L,P,L,654,PL,P654L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,0.000662348,0,0.0225874,0.98481
3941,P16144,G,D,931,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,,,,,,,,,167,67,ENSG00000132470,ENST00000579662,,ITGB4,0.53,,,,,2.93097,15.77,P16144_G931D,G,D,931,GD,G931D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.999,-3.128,2.129,,,,,,6.567,,72.56,0.000174949,0,0.00596612,0.930069
3944,P16144,W,X,1478,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.13,,,,,,,,,1167,7,ENSG00000132470,ENST00000579662,,ITGB4,0.84,,,,,12.2456,46,P16144_W1478X,W,X,1478,WX,W1478X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000881407,0,0.0300578,0.956807
3945,P51570,Q,X,412,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.09,,,,,,,,,1052,145,ENSG00000108479,ENST00000437911,,GALK1,0.98,,,,,4.18066,21.7,P51570_Q412X,Q,X,412,QX,Q412X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3947,P51570,E,X,110,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.08,,,,,,,,,1186,6068,ENSG00000108479,ENST00000437911,,GALK1,0.26,,,,,3.80888,19.34,P51570_E110X,E,X,110,EX,E110X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00355479,0,0.121226,0.953272
3952,Q70J99,R,X,256,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.12,0,0,0,0.001,,,0.002,,4401,12847,ENSG00000092929,ENST00000207549,CCDS11730.1,UNC13D,0.23,,,,,7.52233,39,Q70J99_R256X,R,X,256,RX,R256X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000791578,0,0.0269944,0.977351
3962,Q14781,R,P,443,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,6639,3213,ENSG00000173894,ENST00000310942,CCDS32757.1,CBX2,0.83,benign,0,tolerated,0.35,-0.607725,1.291,Q14781_R443P,R,P,443,RP,R443P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-2.285,-2.43,0.145,,,,,,36.64,36.64,87.59,0.00353673,0,0.12061,0.979223
3963,P10253,D,N,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.15,0.023,0.007,0.032,0.02,,0.02,0.01,0.03,3153,972,ENSG00000171298,ENST00000390015,CCDS32760.1,GAA,0.1,probably_damaging,0.998,tolerated,0.49,3.05496,16.2,P10253_D91N,D,N,91,DN,D91N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-1.204,-1.78,0.576,,,,,,14.705,14.705,46.43,0.00114056,0,0.0388955,1.01158
3996,Q92539,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.68,0.07,,,,,,,,,89902,5052,ENSG00000101577,ENST00000261596,CCDS11829.1,LPIN2,,,,,,4.18034,21.6,Q92539_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4123,Q9Y2V3,R,Q,192,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,,,,,,,,,3916,2435,ENSG00000134438,ENST00000334889,CCDS11972.1,RAX,0.55,probably_damaging,0.995,deleterious,0.01,5.37772,34,Q9Y2V3_R192Q,R,Q,192,RQ,R192Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.336,-3.447,2.111,,,,,,1.569,,89.88,0.0013232,0,0.0451238,0.907447
4125,P49257,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.68,0.19,,,,,,,,,29,31420,ENSG00000074695,ENST00000251047,CCDS11974.1,LMAN1,0,possibly_damaging,0.636,deleterious,0,4.65913,25.6,P49257_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.541,-3.198,1.657,,,,,,,,,0.00045035,0,0.0153579,0.911503
4158,P08246,L,F,206,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,,,,,,,,,3687,265,ENSG00000197561,ENST00000263621,CCDS12045.1,ELANE,0.77,probably_damaging,0.999,deleterious,0,2.67568,14.91,P08246_L206F,L,F,206,LF,L206F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.252,-3.516,2.264,,E,B,0.03,-0.99,0.609,,17.23,0.00376722,0,0.12847,0.635204
4162,Q969F8,L,S,148,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.19,,,,,,,,,2221,1452,ENSG00000116014,ENST00000234371,CCDS12049.1,KISS1R,0.37,probably_damaging,0.984,deleterious,0,3.87902,19.71,Q969F8_L148S,L,S,148,LS,L148S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.285,-3.475,2.19,,,,,,1.134,,44.72,0.00265789,0,0.0906393,0.817052
4180,Q14353,T,M,209,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.19,0.071,0.02,0.097,0.04,,0.03,0.002,0.09,977,354,ENSG00000130005,ENST00000252288,CCDS12064.1,GAMT,0.89,possibly_damaging,0.834,tolerated,0.16,2.6713,14.89,Q14353_T209M,T,M,209,TM,T209M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.309,-4.169,2.86,0.367,E,B,0.77,-0.11,2.284,,72.03,0.0171704,0,0.585545,0.799023
4224,Q9GZU1,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.68,0.11,,,,,,,,,4149,7250,ENSG00000090674,ENST00000264079,CCDS12180.1,MCOLN1,,,,,,3.3176,17.16,Q9GZU1_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
4231,Q15833,P,L,488,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,9209,1551,ENSG00000076944,ENST00000441779,,STXBP2,0.81,probably_damaging,0.976,deleterious,0,3.76838,19.13,Q15833_P488L,P,L,488,PL,P488L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
4271,Q13351,H,Y,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,1869,913,ENSG00000105610,ENST00000264834,CCDS12285.1,KLF1,0.83,possibly_damaging,0.805,deleterious,0,4.94667,28.7,Q13351_H299Y,H,Y,299,HY,H299Y,PositiveCharge,Hydrophobic,7.59,5.66,-1.93,155,181,26,153.2,193.6,40.4,83,-1.022,-3.172,2.15,,,,,,,,,0.00242127,0,0.0825703,0.839671
4319,O75462,L,R,374,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.23,,,,,,,,,12513,1111,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,0.89,benign,0.134,deleterious,0,2.95603,15.85,O75462_L374R,L,R,374,LR,L374R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-2.125,-3.983,1.858,,,,,,2.785,,79.62,0.00375454,0,0.128038,0.936714
4375,P21817,R,W,109,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.08,,,,,,,,,9912,143953,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.02,possibly_damaging,0.828,,,2.56565,14.54,P21817_R109W,R,W,109,RW,R109W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.826,-5.379,3.553,0.291,E,B,1.67,0.46,0.438,,2.2,,,,0.654597
4475,P01229,Q,R,74,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.16,,,,,,,,,818,293,ENSG00000104826,ENST00000221421,CCDS12748.1,LHB,0.52,probably_damaging,0.996,deleterious,0,3.80032,19.3,P01229_Q74R,Q,R,74,QR,Q74R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.095,-2.804,1.709,0.061,.,B,0.56,-0.08,9.516,9.516,35.46,0.00466248,0,0.159,0.742148
4479,#N/A,A,V,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.17,0.002,0,0.003,0.002,,0.01,,0.003,2133,595,ENSG00000167744,ENST00000301411,CCDS12754.1,NTF4,0.42,benign,0.249,deleterious,0.02,2.50156,14.32,#N/A_A88V,A,V,88,AV,A88V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,,,,0.954618
4481,Q8TD43,Y,H,436,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,38755,15238,ENSG00000130529,ENST00000355712,,TRPM4,0.51,probably_damaging,0.997,deleterious,0,4.48961,24.1,Q8TD43_Y436H,Y,H,436,YH,Y436H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,,,,,,,,,,,,0.000940878,0,0.0320859,0.923976
4487,Q7Z406,R,S,734,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,,,,,,,,,48851,51333,ENSG00000105357,ENST00000425460,CCDS46151.1,MYH14,0.37,probably_damaging,0.937,deleterious,0,4.06162,20.9,Q7Z406_R734S,R,S,734,RS,R734S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,,,,,,,,,,,,,,,0.912913
4575,Q9HC10,R,X,963,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.13,0,0,0,,,,,,2025,18814,ENSG00000115155,ENST00000403946,,OTOF,0.48,,,,,9.55421,42,Q9HC10_R963X,R,X,963,RX,R963X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4576,Q9HC10,R,H,794,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,0.002,0.001,0.002,0.004,,0.003,0.002,0.01,602,20237,ENSG00000115155,ENST00000403946,,OTOF,0.4,possibly_damaging,0.844,deleterious,0.03,5.42745,35,Q9HC10_R794H,R,H,794,RH,R794H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.252,-3.38,2.128,,,,,,10.938,10.938,87.88,,,,0.877082
4631,Q16678,G,R,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.23,,,,,,,,,759,265,ENSG00000138061,ENST00000407341,CCDS1793.1,CYP1B1,0.43,probably_damaging,1,deleterious,0.02,4.00364,20.5,Q16678_G232R,G,R,232,GR,G232R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.264,-3.765,2.501,0.011,H,A,0.91,-1.05,2.016,,57.64,0.00220164,0,0.0750806,0.546524
4644,Q9H221,P,T,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.07,,,,,,,,,13519,25984,ENSG00000143921,ENST00000272286,CCDS1815.1,ABCG8,0.34,probably_damaging,1,deleterious,0,4.66949,25.7,Q9H221_P231T,P,T,231,PT,P231T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-0.966,-3.239,2.273,,,,,,,,,0.000165035,0,0.00562803,0.836103
4662,O95343,R,P,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,1111,3204,ENSG00000138083,ENST00000260653,CCDS1821.1,SIX3,0.77,possibly_damaging,0.852,deleterious,0.04,2.1506,13.15,O95343_R257P,R,P,257,RP,R257P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.565,-1.951,0.386,,,,,,44.258,44.258,89.46,,,,0.935257
4765,P43403,P,Q,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.23,,,,,,,,,187,9508,ENSG00000115085,ENST00000264972,CCDS33254.1,ZAP70,0.13,probably_damaging,0.997,deleterious,0,3.29643,17.07,P43403_P80Q,P,Q,80,PQ,P80Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.236,-3.739,2.503,0.12,H,A,0.12,-1.31,2.132,,82.23,0.00057635,0,0.0196547,0.634769
4813,P04070,H,P,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.15,,,,,,,,,30,96,ENSG00000115718,ENST00000402125,,PROC,0.05,,,deleterious,0.01,2.24921,13.48,P04070_H11P,H,P,11,HP,H11P,PositiveCharge,Special,7.59,6.3,-1.29,155,115,-40,153.2,112.7,-40.5,77,,,,,,,,,,,,0.0020755,0.00444444,0.070779,0.97112
4996,P07320,R,H,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.2,,,,,,,,,314,2581,ENSG00000118231,ENST00000264376,CCDS2378.1,CRYGD,0.34,benign,0.1,deleterious,0.02,1.73919,11.77,P07320_R59H,R,H,59,RH,R59H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.688,-4.263,2.575,0.504,E,B,1.03,-0.01,1.185,,58.05,0.00649724,0,0.221569,0.692646
5074,P23760,Y,H,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.19,,,,,,,,,1716,3395,ENSG00000135903,ENST00000336840,CCDS2449.1,PAX3,0.22,probably_damaging,0.963,deleterious,0,4.90548,28.3,P23760_Y90H,Y,H,90,YH,Y90H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.437,-3.462,2.025,0.514,H,A,0.38,-1.05,,,,0.00175148,0,0.0597292,0.628471
5092,P53420,P,L,1569,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,0,0,0,,,,,,156002,787,ENSG00000081052,ENST00000329662,,COL4A4,0.93,,,deleterious,0,3.54733,18.09,P53420_P1569L,P,L,1569,PL,P1569L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,,,,,,,,,,,,,,,0.94662
5130,P21549,P,R,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.05,,,,,,,,,51,4572,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.03,probably_damaging,1,deleterious,0,2.37038,13.88,P21549_P11R,P,R,11,PR,P11R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.886,-3.904,3.018,0.023,.,B,0.68,-0.25,3.128,,43.11,0.00188989,0,0.064449,0.601479
5131,P21549,P,L,11,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.05,0.155,0.061,0.203,0.11,,0.14,0.05,0.21,51,4572,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.03,probably_damaging,0.999,deleterious,0.01,2.73682,15.11,P21549_P11L,P,L,11,PL,P11L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-0.886,-3.648,2.762,0.023,.,B,1.07,-0.25,2.035,,43.11,0.00188989,0,0.064449,0.586207
5168,P21549,S,X,158,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.09,,,,,,,,,209,2071,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.4,,,,,8.61801,41,P21549_S158X,S,X,158,SX,S158X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00157153,0,0.0535924,0.902951
5169,P21549,S,L,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,209,2071,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.4,probably_damaging,0.983,deleterious,0,4.31451,22.6,P21549_S158L,S,L,158,SL,S158L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.272,-3.473,2.201,0.008,T,A,0.82,-0.99,5.316,,89.29,0.00157153,0,0.0535924,0.615913
5170,P21549,G,S,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,217,2063,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.41,probably_damaging,0.985,deleterious,0,4.67191,25.8,P21549_G161S,G,S,161,GS,G161S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.709,-2.789,2.08,0.011,T,l,0.02,-0.58,11.108,11.108,89.29,0.00115672,0,0.0394467,0.797298
5171,P21549,G,R,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,217,2063,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.41,probably_damaging,1,deleterious,0,4.16082,21.5,P21549_G161R,G,R,161,GR,G161R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.709,-4.091,3.382,0.011,T,l,0.91,-0.58,2.824,,89.29,0.00115672,0,0.0394467,0.648493
5172,P21549,G,C,161,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,217,2063,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.41,probably_damaging,1,deleterious,0,4.00797,20.5,P21549_G161C,G,C,161,GC,G161C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.709,-5.153,4.444,0.011,T,l,0.75,-0.58,1.913,,89.29,0.00115672,0,0.0394467,0.654231
5234,Q8N465,V,A,243,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,12660,215,ENSG00000180902,ENST00000445308,,D2HGDH,0.76,possibly_damaging,0.828,deleterious,0.03,3.66326,18.62,Q8N465_V243A,V,A,243,VA,V243A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,,,,,,,,,,,,0.00256955,0,0.087627,0.972988
5259,Q8NBS3,R,X,589,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.12,,,,,,,,,347,242,ENSG00000088836,ENST00000539553,CCDS54446.1,SLC4A11,0.67,,,,,4.81434,27.3,Q8NBS3_R589X,R,X,589,RX,R589X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00131508,0,0.0448468,0.900587
5348,P12931,Q,X,531,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.11,,,,,,,,,1046,328,ENSG00000197122,ENST00000358208,CCDS13294.1,SRC,0.99,,,,,7.27238,38,P12931_Q531X,Q,X,531,QX,Q531X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0312516,0,1.06574,0.93981
5447,P35713,A,P,104,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,435,1484,ENSG00000203883,ENST00000340356,CCDS13552.1,SOX18,0.27,probably_damaging,0.988,deleterious,0.01,4.01974,20.6,P35713_A104P,A,P,104,AP,A104P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-0.949,-3.51,2.561,,,,,,,,,,,,0.786614
5507,O95500,G,R,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.17,,,,,,,,,5047,643,ENSG00000159261,ENST00000342108,CCDS13645.1,CLDN14,0.42,probably_damaging,1,deleterious,0,3.65364,18.58,O95500_G101R,G,R,101,GR,G101R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,,,,,,,,,,,0.752031
5527,P35520,P,L,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.17,,,,,,,,,2145,17,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.26,probably_damaging,0.999,deleterious,0,3.65033,18.56,P35520_P145L,P,L,145,PL,P145L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,0.158,.,A,1.07,-0.16,,,,0.0015772,0,0.0537858,0.642117
5555,P12109,G,R,290,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.08,,,,,,,,,7880,15434,ENSG00000142156,ENST00000361866,CCDS13727.1,COL6A1,0.28,probably_damaging,0.996,deleterious,0,4.44126,23.6,P12109_G290R,G,R,290,GR,G290R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.809,-3.75,2.941,,,,,,,,,0.000358805,0,0.012236,0.78896
5558,P12109,Y,X,659,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.17,,,,,,,,,509,1169,ENSG00000142156,ENST00000361866,CCDS13727.1,COL6A1,0.64,,,,,3.89714,19.81,P12109_Y659X,Y,X,659,YX,Y659X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00140917,0,0.0480555,0.8948
5587,Q12824,Q,X,12,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.24,,,,,,,,,192,16220,ENSG00000099956,ENST00000407082,,SMARCB1,0.04,,,,,7.27722,38,Q12824_Q12X,Q,X,12,QX,Q12X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00166992,0,0.0569478,0.904853
5628,Q8IU80,L,P,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.07,,,,,,,,,13917,5797,ENSG00000187045,ENST00000406725,,TMPRSS6,0.28,probably_damaging,0.966,tolerated,0.15,3.53761,18.05,Q8IU80_L226P,L,P,226,LP,L226P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
5642,P56693,S,T,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.16,,,,,,,,,34,4954,ENSG00000100146,ENST00000427770,,SOX10,0.63,probably_damaging,0.995,deleterious,0,4.69535,26,P56693_S135T,S,T,135,ST,S135T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.348,-2.707,1.359,,,,,,,,,0.000994314,0,0.0339081,0.855753
5674,P00387,R,Q,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,0,0,0,,,,,,1918,390,ENSG00000100243,ENST00000407623,CCDS14040.1,CYB5R3,0.13,probably_damaging,0.989,deleterious,0,4.45579,23.8,P00387_R35Q,R,Q,35,RQ,R35Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.00521691,0.0075188,0.177907,0.954513
5675,Q9NPC4,W,X,261,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.16,,,,,,,,,1818,803,ENSG00000128274,ENST00000381278,CCDS14041.1,A4GALT,0.74,,,,,6.04198,37,Q9NPC4_W261X,W,X,261,WX,W261X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00711782,0,0.242732,0.894065
5685,Q9BV10,Y,X,414,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.07,,,,,,,,,3856,102,ENSG00000182858,ENST00000330817,CCDS14081.1,ALG12,0.85,,,,,3.25741,16.93,Q9BV10_Y414X,Y,X,414,YX,Y414X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.005234,0.0135135,0.17849,0.92735
5700,O43819,R,X,90,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.09,,,,,,,,,1461,142,ENSG00000130489,ENST00000395693,CCDS14095.1,SCO2,0.34,,,,,3.49151,17.86,O43819_R90X,R,X,90,RX,R90X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00795525,0.0113636,0.27129,0.912065
5721,P15289,N,S,350,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.04,0.182,0.299,0.123,0.21,0.16,0.23,0.37,0.13,2168,604,ENSG00000100299,ENST00000547805,,ARSA,0.69,benign,0.016,deleterious,0.02,2.71109,15.03,P15289_N350S,N,S,350,NS,N350S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.654,-3.053,1.399,1.05,S,A,0.34,2.6,3.019,,56.41,0.00355463,0,0.12122,0.864781
5926,Q14524,S,Y,1103,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,0.024,0.073,0,0.01,,0.003,0.05,0.001,53901,29095,ENSG00000183873,ENST00000413689,CCDS46799.1,SCN5A,0.55,benign,0.162,deleterious,0.01,2.17962,13.24,Q14524_S1103Y,S,Y,1103,SY,S1103Y,Polar,Hydrophobic,5.68,5.66,-0.02,105,181,76,89,193.6,104.6,144,-1.607,-3.939,2.332,,,,,,1.731,,93.55,,,,0.82048
5927,Q14524,A,S,997,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,52147,30849,ENSG00000183873,ENST00000449557,,SCN5A,0.51,benign,0.002,tolerated,0.77,-2.18074,0.005,Q14524_A997S,A,S,997,AS,A997S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.995,-2.359,0.364,,,,,,20.535,20.535,93.37,,,,0.972056
6151,P14770,L,P,7,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.03,,,,,,,,,992,648,ENSG00000169704,ENST00000307395,CCDS3055.1,GP9,0.04,probably_damaging,0.96,deleterious,0,2.95739,15.86,P14770_L7P,L,P,7,LP,L7P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.076,-2.313,1.237,,,,,,13.976,13.976,28.25,0.00406895,0.00588235,0.13876,0.916414
6300,P48431,N,K,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.23,,,,,,,,,564,817,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.15,probably_damaging,0.999,deleterious,0,1.63897,11.44,P48431_N46K,N,K,46,NK,N46K,Polar,PositiveCharge,5.47,9.74,4.27,132,146,14,114.1,168.6,54.5,94,-1.441,-3.112,1.671,,,,,,2.255,,48.9,0.00138572,0,0.0472558,0.930828
6306,P48431,G,A,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.24,,,,,,,,,815,566,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.41,possibly_damaging,0.523,tolerated,0.09,3.76296,19.11,P48431_G130A,G,A,130,GA,G130A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-0.921,-2.588,1.667,,,,,,,,,0.00600248,0.0106952,0.204697,0.861886
6411,P35475,Y,X,64,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.13,,,,,,,,,74,156,ENSG00000127415,ENST00000247933,CCDS3343.1,IDUA,0.1,,,,,5.04927,29.9,P35475_Y64X,Y,X,64,YX,Y64X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00157648,0,0.0537613,0.8948
6412,P35475,Q,X,70,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.12,0.001,0,0.001,,,,,,58,140,ENSG00000127415,ENST00000247933,CCDS3343.1,IDUA,0.11,,,,,5.37573,34,P35475_Q70X,Q,X,70,QX,Q70X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000894333,0,0.0304986,0.98231
6413,P35475,R,Q,89,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,,,,,,,,,1,82,ENSG00000127415,ENST00000247933,CCDS3343.1,IDUA,0.14,probably_damaging,1,deleterious,0,5.24132,33,P35475_R89Q,R,Q,89,RQ,R89Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.336,-3.447,2.111,,,,,,0.823,,47.17,0.00071906,0,0.0245214,0.898459
6417,P35475,T,P,234,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.24,,,,,,,,,350,323,ENSG00000127415,ENST00000514224,,IDUA,0.45,benign,0.044,tolerated,0.18,1.22792,9.98,P35475_T234P,T,P,234,TP,T234P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,,,,,,,,,,,,0.00124044,0,0.0423014,0.917781
6450,Q18PE1,R,X,201,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.13,0,0,0,,,,,,258,7279,ENSG00000175920,ENST00000389653,,DOK7,0.33,,,,,7.13666,38,Q18PE1_R201X,R,X,201,RX,R201X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6493,Q99453,R,G,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,351,1324,ENSG00000109132,ENST00000510424,,PHOX2B,0.45,probably_damaging,0.991,deleterious,0,3.99759,20.5,Q99453_R81G,R,G,81,RG,R81G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,,,,0.902988
6698,O14746,A,T,1062,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,0.016,0.003,0.022,0.01,,0.01,,0.02,28532,751,ENSG00000164362,ENST00000310581,CCDS3861.2,TERT,0.94,benign,0.016,tolerated,0.18,1.46903,10.86,O14746_A1062T,A,T,1062,AT,A1062T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-2.004,-3.331,1.327,,,,,,5.899,,71.82,0.00295933,0,0.100919,1.05326
6710,O14746,P,S,704,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,3700,12861,ENSG00000164362,ENST00000296820,,TERT,0.87,possibly_damaging,0.812,tolerated,0.19,0.99982,9.083,O14746_P704S,P,S,704,PS,P704S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.529,-2.26,0.731,,,,,,10.938,10.938,63.78,0.00119297,0,0.0406828,1.00261
7024,O75360,F,S,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,,,,,,,,,2058,1950,ENSG00000175325,ENST00000308304,CCDS4430.1,PROP1,0.39,probably_damaging,0.999,deleterious,0,4.33976,22.8,O75360_F88S,F,S,88,FS,F88S,Hydrophobic,Polar,3.32,5.68,2.36,165,105,-60,189.9,89,-100.9,155,-1.149,-3.428,2.279,,,,,,,,,0.000724327,0,0.024701,0.785306
7086,P05549,R,G,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,32,59,ENSG00000137203,ENST00000498450,,TFAP2A,0.69,probably_damaging,1,deleterious,0,4.53028,24.4,P05549_R94G,R,G,94,RG,R94G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00200225,0,0.0682807,0.936724
7097,Q6VVB1,C,S,26,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,90,2044,ENSG00000187566,ENST00000340650,CCDS4542.1,NHLRC1,0.07,probably_damaging,0.999,deleterious,0,4.31488,22.6,Q6VVB1_C26S,C,S,26,CS,C26S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.206,-3.302,2.096,,,,,,2.178,,51.65,0.00117868,0,0.0401953,0.882592
7118,P08686,Q,X,319,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.09,,,,,,,,,1207,449,ENSG00000231852,ENST00000418967,CCDS4735.1,CYP21A2,0.64,,,,,7.06559,38,P08686_Q319X,Q,X,319,QX,Q319X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00291348,0,0.0993556,0.955443
7122,P13942,R,X,1271,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.07,,,,,,,,,10072,5127,ENSG00000204248,ENST00000395197,,COL11A2,0.76,,,,,9.02446,41,P13942_R1271X,R,X,1271,RX,R1271X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,4.21e-05,0,0.00143589,0.984992
7410,P35557,V,M,438,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.15,,,,,,,,,959,39,ENSG00000106633,ENST00000437084,,GCK,0.98,benign,0.204,deleterious,0,4.65308,25.6,P35557_V438M,V,M,438,VM,V438M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,0.00564123,0,0.192377,0.962101
7411,P35557,R,L,380,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.25,,,,,,,,,570,85,ENSG00000106633,ENST00000437084,,GCK,0.85,probably_damaging,0.973,deleterious,0,5.54551,35,P35557_R380L,R,L,380,RL,R380L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00388706,0,0.132557,0.954803
7476,P16435,Y,C,578,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.16,,,,,,,,,416,241,ENSG00000127948,ENST00000394893,,POR,0.91,probably_damaging,1,deleterious,0,3.59834,18.32,P16435_Y578C,Y,C,578,YC,Y578C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,0.00150994,0,0.0514921,0.88215
7746,Q15465,E,X,256,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.29,,,,,,,,,5550,3473,ENSG00000164690,ENST00000297261,CCDS5942.1,SHH,0.55,,,,,3.97283,20.3,Q15465_E256X,E,X,256,EX,E256X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00306577,0,0.104549,0.953272
7758,P50219,T,S,34,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,288,538,ENSG00000130675,ENST00000428439,,MNX1,0.41,probably_damaging,1,deleterious,0,4.88852,28.1,P50219_T34S,T,S,34,TS,T34S,Polar,Polar,5.6,5.68,0.08,119,105,-14,116.1,89,-27.1,58,,,,,,,,,,,,,,,0.953324
7818,P11686,L,Q,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.11,,,,,,,,,727,2,ENSG00000168484,ENST00000521315,CCDS55209.1,SFTPC,0.95,probably_damaging,1,deleterious,0,4.79513,27,P11686_L182Q,L,Q,182,LQ,L182Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,,,,,,,,,,,,0.0195446,0,0.666511,0.950615
7981,P01106,P,S,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.16,,,,,,,,,2200,45,ENSG00000136997,ENST00000259523,,MYC,0.22,probably_damaging,0.922,deleterious,0.02,5.02445,29.7,P01106_P57S,P,S,57,PS,P57S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-0.966,-3.203,2.237,,,,,,,,,0.00167663,0,0.0571766,0.747847
7983,P01106,N,T,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.19,,,,,,,,,2288,44,ENSG00000136997,ENST00000259523,,MYC,0.33,benign,0.221,deleterious,0,2.55279,14.5,P01106_N86T,N,T,86,NT,N86T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,-2.024,-3.247,1.223,,,,,,3.263,,92.29,0.00221807,0.00283286,0.0756409,0.974067
8000,P01266,G,R,2375,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,0,0,0,,,,,,12208,73,ENSG00000042832,ENST00000220616,CCDS34944.1,TG,0.86,probably_damaging,1,deleterious,0,4.04068,20.7,P01266_G2375R,G,R,2375,GR,G2375R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.763,-3.789,3.026,,,,,,,,,0.000295437,0,0.010075,0.788138
8003,P55000,C,Y,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,1253,215,ENSG00000126233,ENST00000246515,CCDS6387.1,SLURP1,0.96,probably_damaging,0.915,deleterious,0,3.17273,16.62,P55000_C99Y,C,Y,99,CY,C99Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,,,,,,,,,0.0123996,0,0.422851,0.731407
8030,Q8TDN2,E,X,306,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.17,,,,,,,,,1153,11383,ENSG00000168263,ENST00000382082,CCDS6447.1,KCNV2,0.56,,,,,8.47317,40,Q8TDN2_E306X,E,X,306,EX,E306X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.000970801,0,0.0331063,0.910457
8242,Q13285,R,L,255,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,,,,,,,,,791,232,ENSG00000136931,ENST00000373588,CCDS6856.1,NR5A1,0.55,benign,0.035,deleterious,0,1.72489,11.73,Q13285_R255L,R,L,255,RL,R255L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.569,-3.198,1.629,0.632,.,b,1.75,2.24,2.518,,59.44,0.0023854,0,0.0813471,0.849989
8246,Q13285,C,X,16,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.25,,,,,,,,,3888,2921,ENSG00000136931,ENST00000455734,,NR5A1,0.09,,,,,5.4671,35,Q13285_C16X,C,X,16,CX,C16X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00131105,0,0.0447094,0.903046
8247,Q13285,V,M,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.25,,,,,,,,,3883,2926,ENSG00000136931,ENST00000455734,,NR5A1,0.08,benign,0.378,deleterious,0,3.32891,17.2,Q13285_V15M,V,M,15,VM,V15M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.373,-3.979,2.606,0.033,S,a,0.11,0,1.225,,78.74,0.00150157,0,0.0512066,0.773306
8269,Q6P1M0,C,X,168,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.12,0,0,0,,,,,,4769,15721,ENSG00000167114,ENST00000300456,CCDS6899.1,SLC27A4,0.26,,,,,4.19406,21.7,Q6P1M0_C168X,C,X,168,CX,C168X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.0024155,0,0.0823736,0.962227
8327,Q9UBR4,Y,C,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,3359,3521,ENSG00000107187,ENST00000371746,CCDS6995.1,LHX3,0.29,probably_damaging,0.998,deleterious,0,4.64061,25.5,Q9UBR4_Y116C,Y,C,116,YC,Y116C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,,,,,,,,,,,,,,,0.900273
8334,P46531,R,X,1107,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.13,,,,,,,,,37625,13794,ENSG00000148400,ENST00000277541,CCDS43905.1,NOTCH1,0.43,,,,,7.39677,39,P46531_R1107X,R,X,1107,RX,R1107X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8335,O15120,L,P,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.09,,,,,,,,,3475,197,ENSG00000169692,ENST00000371696,CCDS7003.1,AGPAT2,0.82,probably_damaging,0.997,deleterious,0,3.08268,16.29,O15120_L228P,L,P,228,LP,L228P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.331,-3.923,2.592,,,,,,1.462,,78.78,0.0028569,0,0.0974262,0.851322
8342,Q8N130,R,L,353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.13,0,0,0,,,,,,3308,2314,ENSG00000198569,ENST00000538474,CCDS7038.1,SLC34A3,0.59,possibly_damaging,0.616,deleterious,0.01,2.88357,15.61,Q8N130_R353L,R,L,353,RL,R353L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-2.073,-3.445,1.372,,,,,,3.263,,73.62,0.00203701,0,0.0694661,0.951897
8344,Q8N130,R,W,468,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.12,,,,,,,,,5085,537,ENSG00000198569,ENST00000538474,CCDS7038.1,SLC34A3,0.78,probably_damaging,0.999,deleterious,0,2.89577,15.65,Q8N130_R468W,R,W,468,RW,R468W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.184,-5.14,3.956,,,,,,,,,0.000761599,0,0.0259721,0.802714
8449,Q96QS3,P,L,353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.21,,,,,,,,,3012,9243,ENSG00000004848,ENST00000379044,CCDS14215.1,ARX,0.63,benign,0.064,tolerated,0.06,1.76191,11.85,Q96QS3_P353L,P,L,353,PL,P353L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,,,,,,,,,0.00126609,0,0.0431763,0.731231
8475,P51843,Q,X,37,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.21,,,,,,,,,124,3434,ENSG00000169297,ENST00000453287,,NR0B1,0.09,,,,,1.89189,12.28,P51843_Q37X,Q,X,37,QX,Q37X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00115046,0,0.0392331,0.912628
8868,P27918,S,X,206,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.07,,,,,,,,,710,483,ENSG00000126759,ENST00000377005,,CFP,0.5,,,,,5.22309,33,P27918_S206X,S,X,206,SX,S206X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00220498,0,0.0751943,0.962132
8898,P08247,G,R,217,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.17,,,,,,,,,8449,1188,ENSG00000102003,ENST00000479808,CCDS14321.1,SYP,0.69,probably_damaging,1,deleterious,0,5.43888,35,P08247_G217R,G,R,217,GR,G217R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.00245691,0,0.0837857,0.765034
8949,P98174,P,L,312,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.08,0.001,0,0.001,0.001,,,,0.002,25985,24728,ENSG00000102302,ENST00000375135,CCDS14359.1,FGD1,0.32,possibly_damaging,0.824,tolerated,0.1,3.21662,16.78,P98174_P312L,P,L,312,PL,P312L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.697,-2.011,0.314,,,,,,32.042,32.042,85.33,,,,0.977097
9115,P49335,R,X,167,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.16,,,,,,,,,562,945,ENSG00000196767,ENST00000373200,CCDS14450.1,POU3F4,0.46,,,,,3.60601,18.36,P49335_R167X,R,X,167,RX,R167X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00236929,0.00515464,0.0807978,0.959768
9699,P32004,G,R,372,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.04,,,,,,,,,646,1411,ENSG00000198910,ENST00000538883,,L1CAM,0.3,probably_damaging,1,deleterious,0,4.58983,25,P32004_G372R,G,R,372,GR,G372R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.000543609,0,0.0185382,0.972859
9704,P30518,W,X,71,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.11,,,,,,,,,605,1063,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.19,,,,,5.12685,32,P30518_W71X,W,X,71,WX,W71X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.0025457,0,0.0868136,0.940601
9722,P51608,Q,X,406,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.68,0.07,,,,,,,,,27159,378,ENSG00000169057,ENST00000303391,CCDS14741.1,MECP2,0.84,,,,,6.126,37,P51608_Q406X,Q,X,406,QX,Q406X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00300826,0,0.102588,0.955443
9738,P21333,S,L,1186,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.16,,,,,,,,,600,11454,ENSG00000196924,ENST00000422373,CCDS44021.1,FLNA,0.45,possibly_damaging,0.815,deleterious,0.01,3.27008,16.98,P21333_S1186L,S,L,1186,SL,S1186L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.667,-3.05,1.383,,,,,,5.238,,80.2,0.000154981,0,0.00528518,0.95003
9739,P21333,D,E,1184,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.68,0.17,,,,,,,,,605,11459,ENSG00000196924,ENST00000422373,CCDS44021.1,FLNA,0.45,probably_damaging,0.991,deleterious,0,2.01045,12.68,P21333_D1184E,D,E,1184,DE,D1184E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.139,-2.5,1.361,,,,,,,,,7.76e-05,0,0.0026464,0.934947
4,Q9UP52,A,V,284,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.69,0.16,,,,,,,,,12056,572,ENSG00000106327,ENST00000544242,,TFR2,0.83,possibly_damaging,0.902,deleterious,0.01,5.96529,36,Q9UP52_A284V,A,V,284,AV,A284V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.0010665,0,0.042178,0.923448
227,P21917,V,G,194,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.69,0.26,0.017,0.049,0,0.01,,0.003,0.05,,773,37,ENSG00000069696,ENST00000176183,CCDS7710.1,DRD4,0.46,,,deleterious,0,1.5866,11.26,P21917_V194G,V,G,194,VG,V194G,Hydrophobic,Special,5.61,3.29,-2.32,117,75,-42,140,60.1,-79.9,109,-1.619,-3.065,1.446,,,,,,8.297,8.297,26.55,0.000706605,0,0.0279447,0.91008
87,P21912,A,G,3,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.19,0.013,0.039,0,0.01,,,0.04,0.001,5,21482,ENSG00000117118,ENST00000375499,CCDS176.1,SDHB,0.01,benign,0.114,deleterious,0.02,2.25578,13.5,P21912_A3G,A,G,3,AG,A3G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.819,-2.507,0.688,,,,,,41.153,41.153,81.79,0.00291285,0.00722022,0.0993343,1.00542
169,P25067,Q,K,455,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.03,,,,,,,,,1932,811,ENSG00000171812,ENST00000303143,CCDS403.1,COL8A2,0.65,,,tolerated,0.54,1.10909,9.524,P25067_Q455K,Q,K,455,QK,Q455K,Polar,PositiveCharge,6.24,9.74,3.5,146,146,0,143.8,168.6,24.8,53,-1.822,-3.12,1.298,,,,,,2.906,,63.02,6.98e-05,0,0.00237944,0.960687
272,P09758,S,X,170,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.23,,,,,,,,,847,1221,ENSG00000184292,ENST00000371225,CCDS609.1,TACSTD2,0.53,,,,,5.93609,36,P09758_S170X,S,X,170,SX,S170X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.0048943,0,0.166906,0.938411
273,P09758,C,S,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.26,,,,,,,,,693,1375,ENSG00000184292,ENST00000371225,CCDS609.1,TACSTD2,0.37,probably_damaging,0.99,deleterious,0,4.79328,27,P09758_C119S,C,S,119,CS,C119S,Special,Polar,5.07,5.68,0.61,121,105,-16,108.5,89,-19.5,112,-1.111,-3.241,2.13,,,,,,,,,0.00211429,0,0.0721015,0.828287
274,P09758,Q,X,118,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.26,,,,,,,,,690,1378,ENSG00000184292,ENST00000371225,CCDS609.1,TACSTD2,0.37,,,,,7.89721,39,P09758_Q118X,Q,X,118,QX,Q118X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00164047,0,0.0559432,0.904853
321,P28288,G,D,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.23,,,,,,,,,49,57167,ENSG00000117528,ENST00000370214,CCDS749.1,ABCD3,0.03,probably_damaging,0.995,deleterious,0.01,3.35891,17.32,P28288_G17D,G,D,17,GD,G17D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.008,-3.15,2.142,,,,,,,,,0.000319595,0,0.0108989,0.840931
444,P02545,G,S,578,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.15,,,,,,,,,1149,450,ENSG00000160789,ENST00000347559,,LMNA,0.91,benign,0.009,tolerated,0.25,2.6127,14.7,P02545_G578S,G,S,578,GS,G578S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,,,,,,,,,,,,0.00236817,0,0.0807594,0.975197
924,Q7LGC8,Y,X,201,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.21,,,,,,,,,43269,5931,ENSG00000122863,ENST00000373115,CCDS7312.1,CHST3,0.42,,,,,7.33031,39,Q7LGC8_Y201X,Y,X,201,YX,Y201X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00224085,0,0.0764178,0.953982
1123,P10746,P,Q,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.11,,,,,,,,,6305,3,ENSG00000188690,ENST00000368797,CCDS7648.1,UROS,0.94,probably_damaging,0.997,deleterious,0,2.72905,15.09,P10746_P248Q,P,Q,248,PQ,P248Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.247,-3.799,2.552,0.135,H,A,0.12,-0.05,1.327,,81.13,0.0103509,0,0.352987,0.742209
1196,P49918,Q,X,36,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.2,,,,,,,,,399,1676,ENSG00000129757,ENST00000380725,,CDKN1C,0.27,,,,,5.63925,36,P49918_Q36X,Q,X,36,QX,Q36X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00190937,0,0.0651135,0.963541
1283,Q14654,Y,X,18,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.13,,,,,,,,,604,413,ENSG00000187486,ENST00000528992,,KCNJ11,0.12,,,,,2.21977,13.38,Q14654_Y18X,Y,X,18,YX,Y18X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00163667,0,0.0558139,0.8948
1621,P55916,R,W,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.13,,,,,,,,,1007,81,ENSG00000175564,ENST00000314032,CCDS8229.1,UCP3,0.22,probably_damaging,0.998,deleterious,0,4.16461,21.5,P55916_R70W,R,W,70,RW,R70W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.596,-5.633,4.037,0.893,H,A,1.67,0,0.517,,88.14,0.00350428,0,0.119503,0.759055
1850,Q96MS0,I,L,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.19,,,,,,,,,369,12630,ENSG00000154134,ENST00000538940,,ROBO3,0.03,probably_damaging,0.911,deleterious,0,4.98194,29.2,Q96MS0_I44L,I,L,44,IL,I44L,Hydrophobic,Hydrophobic,6.02,9.71,3.69,131,131,0,166.7,166.7,0,5,,,,,,,,,,,,0.00059691,0,0.0203559,1.0027
1880,Q13936,A,V,39,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.13,,,,,,,,,61727,95,ENSG00000151067,ENST00000399644,CCDS44798.1,CACNA1C,0.02,probably_damaging,0.985,deleterious,0.01,5.42997,35,Q13936_A39V,A,V,39,AV,A39V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.175,-2.814,1.639,,,,,,,,,,,,0.857831
1882,Q9GZV9,R,Q,179,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.2,,,,,,,,,9166,2336,ENSG00000118972,ENST00000237837,CCDS8526.1,FGF23,0.71,benign,0.311,deleterious,0.03,2.94832,15.83,Q9GZV9_R179Q,R,Q,179,RQ,R179Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.101,-3.305,2.204,,,,,,,,,0.0055649,0.0138889,0.189774,0.782889
2076,P41181,S,P,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.15,,,,,,,,,688,728,ENSG00000167580,ENST00000199280,CCDS8792.1,AQP2,0.8,probably_damaging,0.963,deleterious,0.01,4.11229,21.2,P41181_S216P,S,P,216,SP,S216P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.75,-4.012,2.262,0.008,H,A,0.25,-0.17,2.37,,81.55,0.00564969,0,0.192666,0.735376
2247,Q03426,A,T,53,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.09,,,,,,,,,7281,1440,ENSG00000110921,ENST00000540353,,MVK,0.46,probably_damaging,0.983,deleterious,0,4.60844,25.2,Q03426_A53T,A,T,53,AT,A53T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00371303,0,0.126622,0.968401
2817,Q8IWY9,F,L,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.19,,,,,,,,,340,153,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.04,benign,0.008,deleterious,0.03,3.50366,17.91,Q8IWY9_F52L,F,L,52,FL,F52L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.542,-2.848,1.306,,,,,,4.194,,88.83,0.000129524,0,0.00441704,0.965664
2931,Q9BX79,R,C,670,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.09,,,,,,,,,895,22,ENSG00000137868,ENST00000574278,,STRA6,0.98,probably_damaging,1,deleterious,0,3.16834,16.6,Q9BX79_R670C,R,C,670,RC,R670C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,,,,0.89736
2988,Q0VG99,L,V,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.2,,,,,,,,,372,1945,ENSG00000188095,ENST00000341735,CCDS42078.1,MESP2,0.31,probably_damaging,0.999,,,1.90394,12.32,Q0VG99_L125V,L,V,125,LV,L125V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-0.946,-2.263,1.317,,,,,,1.831,1.831,6.3,0.000677463,0,0.0231029,0.896197
3018,P35858,C,R,578,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.13,,,,,,,,,2901,324,ENSG00000099769,ENST00000415638,CCDS53982.1,IGFALS,0.9,probably_damaging,0.997,deleterious,0,1.79458,11.96,P35858_C578R,C,R,578,CR,C578R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,,,,,,,,,,,,,,,0.932506
3035,P98161,Q,X,3838,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.11,,,,,,,,,208,18,ENSG00000008710,ENST00000262304,CCDS32369.1,PKD1,0.89,,,,,20.0469,52,P98161_Q3838X,Q,X,3838,QX,Q3838X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3114,O95255,S,P,1307,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.08,,,,,,,,,782,4862,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.87,probably_damaging,0.997,deleterious,0,3.38009,17.4,O95255_S1307P,S,P,1307,SP,S1307P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-0.929,-3.907,2.978,,,,,,2.201,,19.96,0.000707786,0,0.024137,0.839884
3159,O95255,R,P,964,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.12,,,,,,,,,53685,19617,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.64,possibly_damaging,0.681,deleterious,0.05,3.42486,17.58,O95255_R964P,R,P,964,RP,R964P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-2.443,-4.185,1.742,,,,,,2.051,,80.37,0.000564053,0,0.0192354,0.925374
3286,Q9BQB6,D,Y,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.29,0.001,0,0.001,,,,,,22,3449,ENSG00000167397,ENST00000394975,CCDS10703.1,VKORC1,0.22,probably_damaging,0.936,deleterious,0,3.40295,17.49,Q9BQB6_D36Y,D,Y,36,DY,D36Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.432,-4.178,2.746,,,,,,1.469,,86.5,0.0097059,0,0.330991,0.799318
3428,Q9UQ90,S,T,692,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.11,,,,,,,,,265,565,ENSG00000197912,ENST00000268704,CCDS10977.1,SPG7,0.87,probably_damaging,0.998,deleterious,0,5.03304,29.8,Q9UQ90_S692T,S,T,692,ST,S692T,Polar,Polar,5.68,5.6,-0.08,105,119,14,89,116.1,27.1,58,-1.239,-2.748,1.509,,,,,,,,,0.000778852,0,0.0265605,0.920316
3569,Q9UKN7,E,X,1105,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.11,,,,,,,,,2945,3454,ENSG00000091536,ENST00000205890,CCDS42271.1,MYO15A,0.31,,,,,7.8977,39,Q9UKN7_E1105X,E,X,1105,EX,E1105X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
3706,Q8N159,E,D,433,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.15,,,,,,,,,2957,1445,ENSG00000161653,ENST00000293404,CCDS11473.1,NAGS,0.81,probably_damaging,0.975,tolerated,0.13,4.01452,20.6,Q8N159_E433D,E,D,433,ED,E433D,negativeCharge,negativeCharge,3.22,5.05,1.83,147,133,-14,138.4,111.1,-27.3,45,-1.2,-1.886,0.686,,,,,,26.374,26.374,66.48,0.00293353,0,0.10004,1.01276
3792,Q16586,R,C,77,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.09,0.001,0,0.001,0.001,,0.003,,0.003,72,918,ENSG00000108823,ENST00000543315,,SGCA,0.29,probably_damaging,0.981,deleterious,0,4.74808,26.5,Q16586_R77C,R,C,77,RC,R77C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.32,-4.958,3.638,,,,,,0.77,,87.86,0.00189259,0,0.0645414,0.830909
3972,P10253,E,K,689,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.11,0.03,0.019,0.035,0.09,0.28,0.03,0.01,0.03,858,30,ENSG00000171298,ENST00000390015,CCDS32760.1,GAA,0.72,benign,0.085,tolerated,0.74,1.00407,9.101,P10253_E689K,E,K,689,EK,E689K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-2.11,-2.699,0.589,,,,,,16.124,16.124,86.03,0.00186859,0,0.0637227,1.00815
3973,P10253,R,W,725,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.12,,,,,,,,,966,79,ENSG00000171298,ENST00000390015,CCDS32760.1,GAA,0.76,probably_damaging,1,deleterious,0,3.80209,19.3,P10253_R725W,R,W,725,RW,R725W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-0.967,-5.617,4.65,,,,,,0.985,,37.92,0.000608298,0,0.0207442,0.812078
4156,P08246,S,L,126,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.17,,,,,,,,,3283,669,ENSG00000197561,ENST00000263621,CCDS12045.1,ELANE,0.47,benign,0.069,tolerated,0.09,1.17055,9.763,P08246_S126L,S,L,126,SL,S126L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.897,-3.111,1.214,0.592,.,B,0.82,0.23,13.002,,71.54,0.00714141,0,0.243537,0.904685
4165,Q969F8,X,R,399,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.69,0.19,,,,,,,,,3404,269,ENSG00000116014,ENST00000234371,CCDS12049.1,KISS1R,1,,,,,2.19933,13.31,Q969F8_X399R,X,R,399,XR,X399R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,,,,0.934274
4173,Q15831,D,Y,194,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.11,,,,,,,,,14689,7948,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.45,probably_damaging,1,deleterious,0,3.62903,18.46,Q15831_D194Y,D,Y,194,DY,D194Y,negativeCharge,Hydrophobic,5.05,5.66,0.61,133,181,48,111.1,193.6,82.5,160,-1.139,-4.123,2.984,,,,,,,,,0.000466552,0,0.0159104,0.789847
4174,Q15831,W,C,239,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.15,,,,,,,,,14901,7736,ENSG00000118046,ENST00000326873,CCDS45896.1,STK11,0.55,probably_damaging,1,deleterious,0,4.66507,25.7,Q15831_W239C,W,C,239,WC,W239C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.301,-4.598,3.297,0.005,H,A,0.01,-0.99,,,,0.000518838,0,0.0176934,0.638641
4230,Q15833,L,P,220,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.09,,,,,,,,,4968,5792,ENSG00000076944,ENST00000441779,,STXBP2,0.36,probably_damaging,0.999,deleterious,0,2.30967,13.68,Q15833_L220P,L,P,220,LP,L220P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
4429,P02649,R,H,292,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.13,,,,,,,,,2811,146,ENSG00000130203,ENST00000252486,CCDS12647.1,APOE,0.92,probably_damaging,0.984,deleterious,0.01,3.99578,20.5,P02649_R292H,R,H,292,RH,R292H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.397,-4.396,2.999,0.188,H,A,1.03,0.18,2.173,,70.98,0.00642216,0,0.219009,0.730607
4490,Q14003,R,H,420,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.2,,,,,,,,,5553,8186,ENSG00000131398,ENST00000477616,CCDS12793.1,KCNC3,0.55,probably_damaging,0.999,deleterious,0,4.58995,25,Q14003_R420H,R,H,420,RH,R420H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.435,-4.129,2.694,,,,,,0.579,,29.99,0.000284081,0,0.00968774,0.858729
4752,P07988,R,C,248,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.15,0,0,0,,,,,,267,1600,ENSG00000168878,ENST00000409383,CCDS1983.2,SFTPB,0.63,possibly_damaging,0.664,deleterious,0.01,3.62185,18.43,P07988_R248C,R,C,248,RC,R248C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,,,,,,,,,,,,0.00322177,0,0.109869,0.929023
5025,Q8N490,A,V,7,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.21,,,,,,,,,35,2357,ENSG00000127838,ENST00000248451,CCDS42816.1,PNKD,0.05,probably_damaging,0.926,deleterious,0,4.50378,24.2,Q8N490_A7V,A,V,7,AV,A7V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.307,-2.76,1.453,,,,,,,,,0.000435832,0,0.0148628,0.922546
5162,P21549,Q,X,137,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.07,,,,,,,,,496,2775,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.35,,,,,7.55853,39,P21549_Q137X,Q,X,137,QX,Q137X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00460936,0,0.157189,0.93904
5218,P21549,Y,X,297,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.13,,,,,,,,,668,1540,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.76,,,,,5.29221,34,P21549_Y297X,Y,X,297,YX,Y297X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00534181,0,0.182167,0.92735
5219,P21549,L,P,298,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.13,,,,,,,,,670,1538,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.76,probably_damaging,0.982,deleterious,0,2.41026,14.02,P21549_L298P,L,P,298,LP,L298P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.065,-4.368,3.303,,H,A,1.07,0.6,1.542,,80.36,0.00269414,0,0.0918758,0.714089
5220,P21549,Q,X,303,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.12,,,,,,,,,684,1524,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.77,,,,,5.96282,36,P21549_Q303X,Q,X,303,QX,Q303X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00521418,0,0.177814,0.937083
5529,P35520,G,R,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.2,0,0,0,,,,,,2126,36,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.25,probably_damaging,0.997,deleterious,0,4.00181,20.5,P35520_G139R,G,R,139,GR,G139R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,0.667,T,l,0.91,-1.45,,,,0.000890733,0,0.0303758,0.610435
5562,O95954,R,P,299,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.13,0,0,0,,,,,,5439,13350,ENSG00000160282,ENST00000397746,CCDS13731.1,FTCD,0.55,probably_damaging,0.934,tolerated,0.11,2.42393,14.06,O95954_R299P,R,P,299,RP,R299P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.823,-3.599,1.776,,,,,,1.84,,67.84,,,,0.858158
5567,Q7Z412,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.69,0.19,,,,,,,,,1,1851,ENSG00000215193,ENST00000399744,CCDS13750.1,PEX26,0,probably_damaging,0.995,deleterious,0,2.56673,14.54,Q7Z412_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.528,-3.342,1.814,,,,,,1.402,,47.54,0.00246955,0,0.0842167,0.94045
5640,P56693,E,X,189,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.16,,,,,,,,,5416,76,ENSG00000100146,ENST00000427770,,SOX10,0.88,,,,,2.75275,15.17,P56693_E189X,E,X,189,EX,E189X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00321414,0,0.109609,0.953272
5702,O43819,W,X,36,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.04,,,,,,,,,1300,303,ENSG00000130489,ENST00000395693,CCDS14095.1,SCO2,0.14,,,,,2.48879,14.28,O43819_W36X,W,X,36,WX,W36X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000562407,0,0.0191792,0.956807
5740,P15289,G,S,122,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.08,,,,,,,,,895,670,ENSG00000100299,ENST00000547805,,ARSA,0.24,probably_damaging,1,deleterious,0,4.47787,24,P15289_G122S,G,S,122,GS,G122S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.124,-2.171,1.047,,E,g,0.02,-0.27,16.874,16.874,76.73,0.000391842,0,0.0133626,0.855686
5793,P40337,W,S,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.28,,,,,,,,,322,863,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.51,probably_damaging,0.997,deleterious,0,4.688,25.9,P40337_W88S,W,S,88,WS,W88S,Hydrophobic,Polar,5.89,5.68,-0.21,204,105,-99,227.8,89,-138.8,177,-1.395,-3.525,2.13,0.026,E,B,0.74,-0.29,2.453,,55.87,0.00176591,0,0.0602212,0.576837
6318,Q13144,F,V,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.19,,,,,,,,,151,1429,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.08,probably_damaging,0.98,deleterious,0,5.39684,34,Q13144_F56V,F,V,56,FV,F56V,Hydrophobic,Hydrophobic,3.32,5.61,2.29,165,117,-48,189.9,140,-49.9,50,-1.241,-3.081,1.84,,,,,,,,,0.0012619,0,0.0430335,0.823716
6319,Q13144,F,C,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.19,,,,,,,,,152,1428,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.08,probably_damaging,0.997,deleterious,0,5.03016,29.7,Q13144_F56C,F,C,56,FC,F56C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-1.241,-4.639,3.398,,,,,,,,,0.0012619,0,0.0430335,0.694319
6416,P35475,T,M,232,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.25,,,,,,,,,355,318,ENSG00000127415,ENST00000514224,,IDUA,0.45,probably_damaging,0.997,deleterious,0,3.68598,18.73,P35475_T232M,T,M,232,TM,T232M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00108697,0,0.037068,0.92337
6995,P52952,Q,X,198,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.2,,,,,,,,,2255,57,ENSG00000183072,ENST00000329198,CCDS4387.1,NKX2-5,0.61,,,,,6.45548,37,P52952_Q198X,Q,X,198,QX,Q198X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00187998,0,0.0641112,0.963541
7000,P52952,A,S,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.24,0.001,0,0.001,,,,,,2018,294,ENSG00000183072,ENST00000329198,CCDS4387.1,NKX2-5,0.37,benign,0.007,tolerated,1,-0.017296,3.925,P52952_A119S,A,S,119,AS,A119S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.868,-2.218,0.35,,,,,,13.915,13.915,93.21,0.00271118,0,0.0924568,1.00066
7012,P00748,R,P,372,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.23,,,,,,,,,244,502,ENSG00000131187,ENST00000253496,CCDS34302.1,F12,0.6,probably_damaging,0.999,deleterious,0,3.84069,19.51,P00748_R372P,R,P,372,RP,R372P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.064,-3.755,2.691,,,,,,,,,0.00121094,0,0.0412955,0.709704
7068,P15924,V,M,30,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.25,0.001,0,0.002,0.002,0.002,0.003,,0.003,386,1552,ENSG00000096696,ENST00000379802,CCDS4501.1,DSP,0.01,benign,0,tolerated,1,-2.3837,0.004,P15924_V30M,V,M,30,VM,V30M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-2.077,-2.209,0.132,,,,,,14.871,14.871,91.81,,,,0.998753
7085,P05549,R,P,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.23,,,,,,,,,33,60,ENSG00000137203,ENST00000498450,,TFAP2A,0.69,probably_damaging,1,deleterious,0,5.63603,36,P05549_R94P,R,P,94,RP,R94P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00200225,0,0.0682807,0.945389
7388,P10071,E,X,1147,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.17,,,,,,,,,186821,1552,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.73,,,,,9.17841,42,P10071_E1147X,E,X,1147,EX,E1147X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00109023,0.00230947,0.0371789,0.910457
7409,P35557,A,V,439,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.15,,,,,,,,,963,35,ENSG00000106633,ENST00000437084,,GCK,0.98,benign,0.332,deleterious,0,5.35732,34,P35557_A439V,A,V,439,AV,A439V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.0051073,0,0.174169,0.955271
7819,P11686,L,P,188,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.13,,,,,,,,,709,20,ENSG00000168484,ENST00000521315,CCDS55209.1,SFTPC,0.98,probably_damaging,0.937,deleterious,0,3.97651,20.4,P11686_L188P,L,P,188,LP,L188P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.117,-3.882,2.765,,,,,,,,,0.0523685,0,1.78587,0.761462
7982,P01106,P,A,59,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.17,,,,,,,,,2206,39,ENSG00000136997,ENST00000259523,,MYC,0.23,probably_damaging,1,deleterious,0.02,4.93379,28.6,P01106_P59A,P,A,59,PA,P59A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-0.966,-2.895,1.929,,,,,,,,,0.00146247,0,0.0498732,0.832366
8084,Q9UBQ7,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.69,0.08,,,,,,,,,2118,1808,ENSG00000137106,ENST00000377824,,GRHPR,,,,,,3.28491,17.03,Q9UBQ7_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
8329,Q9H257,Q,X,295,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.12,,,,,,,,,532,233,ENSG00000187796,ENST00000371734,CCDS48057.1,CARD9,0.6,,,,,6.05163,37,Q9H257_Q295X,Q,X,295,QX,Q295X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
8333,Q9NRR6,R,C,378,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.17,0,0.001,0,,,,,,6641,4563,ENSG00000148384,ENST00000371712,CCDS7000.1,INPP5E,0.59,probably_damaging,1,deleterious,0,3.17484,16.62,Q9NRR6_R378C,R,C,378,RC,R378C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.336,-2.43,1.094,0.261,E,B,1.66,0.01,20.112,20.112,41.61,0.00218857,0,0.0746348,0.756687
8343,Q8N130,A,E,413,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.09,,,,,,,,,3701,1921,ENSG00000198569,ENST00000538474,CCDS7038.1,SLC34A3,0.69,probably_damaging,0.935,deleterious,0.01,4.12692,21.3,Q8N130_A413E,A,E,413,AE,A413E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.154,-3.361,2.207,,,,,,0.389,,16.69,0.00240918,0,0.0821581,0.781071
9661,Q13495,R,X,701,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.69,0.09,,,,,,,,,32399,8834,ENSG00000013619,ENST00000426613,CCDS55525.1,MAMLD1,0.94,,,,,6.72039,38,Q13495_R701X,R,X,701,RX,R701X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
9700,P32004,C,Y,266,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.69,0.07,,,,,,,,,5445,726,ENSG00000198910,ENST00000538883,,L1CAM,0.21,probably_damaging,0.995,deleterious,0,4.22502,22,P32004_C266Y,C,Y,266,CY,C266Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.000245702,0,0.00837896,0.968699
108,Q8NBP7,A,V,53,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.7,0.21,0.096,0.029,0.13,0.09,0.11,0.09,0.01,0.13,228,12757,ENSG00000169174,ENST00000452118,,PCSK9,0.26,benign,0.005,tolerated,0.33,0.965854,8.941,Q8NBP7_A53V,A,V,53,AV,A53V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.751,-2.579,0.828,,,,,,24.589,24.589,91.33,0.0010621,0,0.0420036,0.98265
145,Q15049,N,S,344,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.7,0.09,0.107,0.066,0.127,0.11,0.09,0.16,0.08,0.12,8754,2601,ENSG00000100427,ENST00000311597,CCDS14083.1,MLC1,0.91,benign,0,tolerated,0.81,-0.75638,0.798,Q15049_N344S,N,S,344,NS,N344S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-3.057,-2.888,-0.169,,,,,,20.301,20.301,92.31,0.0118563,0,0.468892,0.988171
394,O43526,N,T,780,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.7,0.2,0.599,0.51,0.644,0.59,0.63,0.57,0.46,0.65,65715,477,ENSG00000075043,ENST00000359689,,KCNQ2,0.89,benign,0,tolerated,0.53,-0.24908,2.801,O43526_N780T,N,T,780,NT,N780T,Polar,Polar,5.47,5.6,0.13,132,119,-13,114.1,116.1,2,65,-2.914,-2.458,-0.456,,,,,,22.561,22.561,91.06,0.00352461,0,0.139391,1.02644
115,P98160,C,Y,1532,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,,,,,,,,,72424,42629,ENSG00000142798,ENST00000374695,CCDS30625.1,HSPG2,0.35,probably_damaging,0.999,deleterious,0,4.126,21.3,P98160_C1532Y,C,Y,1532,CY,C1532Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.293,-3.939,2.646,,,,,,,,,,,,0.755141
442,P02545,R,H,552,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.15,,,,0.001,,,,0.001,1072,373,ENSG00000160789,ENST00000347559,,LMNA,0.87,possibly_damaging,0.898,deleterious,0.02,5.48801,35,P02545_R552H,R,H,552,RH,R552H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00341125,0,0.116331,0.975921
531,O60779,P,L,51,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.26,0,0,0,,,,,,294,1994,ENSG00000117479,ENST00000367802,,SLC19A2,0.11,probably_damaging,0.994,deleterious,0,4.67433,25.8,O60779_P51L,P,L,51,PL,P51L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.142,-3.324,2.182,,,,,,3.163,,53.12,0.00194819,0,0.0664374,0.847199
738,Q5T442,M,T,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.19,,,,,,,,,8763,1212,ENSG00000198835,ENST00000366714,CCDS1569.1,GJC2,0.65,probably_damaging,0.96,deleterious,0,3.0348,16.13,Q5T442_M286T,M,T,286,MT,M286T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.402,-3.322,1.92,,,,,,0.551,,13.9,0.000724629,0,0.0247113,0.883454
746,P68133,V,L,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.26,,,,,,,,,1702,1143,ENSG00000143632,ENST00000366684,CCDS1578.1,ACTA1,0.44,probably_damaging,0.999,,,3.69413,18.77,P68133_V165L,V,L,165,VL,V165L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.782,-2.286,0.504,,E,B,0.11,0,,,,0.00046793,0,0.0159574,0.921071
747,P68133,V,M,165,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.26,,,,,,,,,1702,1143,ENSG00000143632,ENST00000366684,CCDS1578.1,ACTA1,0.44,probably_damaging,1,,,3.34823,17.27,P68133_V165M,V,M,165,VM,V165M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.782,-3.633,1.851,,E,B,0.11,0,,,,0.00046793,0,0.0159574,0.857073
848,P07949,V,M,804,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.15,0,0,0,,,,,,42469,7905,ENSG00000165731,ENST00000340058,CCDS53525.1,RET,0.75,probably_damaging,1,deleterious,0.02,3.59236,18.29,P07949_V804M,V,M,804,VM,V804M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.113,-3.847,2.734,0.042,E,B,0.11,-0.82,,,,0.00101402,0,0.0345802,0.619693
849,P07949,V,L,804,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.15,,,,,,,,,42469,7905,ENSG00000165731,ENST00000340058,CCDS53525.1,RET,0.75,probably_damaging,0.999,deleterious,0.05,3.85632,19.59,P07949_V804L,V,L,804,VL,V804L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.113,-2.5,1.387,0.042,E,B,0.11,-0.82,,,,0.00101402,0,0.0345802,0.754756
891,P14222,S,I,388,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.11,,,,,,,,,524,1209,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.7,possibly_damaging,0.903,deleterious,0,1.9855,12.6,P14222_S388I,S,I,388,SI,S388I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-1.796,-4.006,2.21,0.256,.,B,0.75,2.4,1.745,,78.02,0.0038583,0,0.131576,0.792262
928,Q7LGC8,R,Q,304,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.2,,,,,,,,,43577,5623,ENSG00000122863,ENST00000373115,CCDS7312.1,CHST3,0.63,probably_damaging,0.998,deleterious,0,5.40821,34,Q7LGC8_R304Q,R,Q,304,RQ,R304Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.000520206,0,0.0177401,0.857498
1148,Q9H936,G,W,236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.17,,,,,,,,,2836,3,ENSG00000177542,ENST00000531214,CCDS7715.1,SLC25A22,0.73,probably_damaging,1,deleterious,0,2.36244,13.86,Q9H936_G236W,G,W,236,GW,G236W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-1.176,-4.978,3.802,,,,,,0.198,,38.39,0.00261718,0,0.0892512,0.795096
1152,Q96AD5,Q,X,289,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.15,,,,,,,,,153,145,ENSG00000177666,ENST00000336615,CCDS7718.1,PNPLA2,0.57,,,,,4.73461,26.4,Q96AD5_Q289X,Q,X,289,QX,Q289X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00232314,0,0.0792238,0.964034
1452,Q86UX7,W,X,49,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.15,,,,,,,,,3,98,ENSG00000149781,ENST00000541252,,FERMT3,0.6,,,,,7.78916,39,Q86UX7_W49X,W,X,49,WX,W49X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
1455,Q96S37,R,H,90,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,0,0,0,,,,,,562,9727,ENSG00000197891,ENST00000377574,CCDS8075.1,SLC22A12,0.16,possibly_damaging,0.523,deleterious,0,3.24032,16.86,Q96S37_R90H,R,H,90,RH,R90H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.297,-4.3,3.003,,,,,,0.454,,48.82,0.00128841,0,0.0439373,0.85259
1472,O00255,R,X,532,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.09,,,,,,,,,1405,213,ENSG00000133895,ENST00000443283,CCDS8083.1,MEN1,0.87,,,,,4.95926,28.9,O00255_R532X,R,X,532,RX,R532X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00145804,0,0.0497223,0.900587
1587,P11487,S,P,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.19,,,,,,,,,8466,335,ENSG00000186895,ENST00000334134,CCDS8195.1,FGF3,0.65,probably_damaging,0.999,deleterious,0,3.87008,19.66,P11487_S156P,S,P,156,SP,S156P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-1.474,-3.543,2.069,,,,,,1.313,,46.86,0.00477142,0,0.162715,0.88013
1759,Q03393,R,Q,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.23,,,,,,,,,85,2988,ENSG00000150787,ENST00000280362,CCDS8359.1,PTS,0.17,probably_damaging,0.998,deleterious,0,5.24897,33,Q03393_R25Q,R,Q,25,RQ,R25Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.281,-3.226,1.945,0.252,.,B,0.56,0.51,,,,0.0070485,0,0.240368,0.820333
1774,P02647,E,K,200,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.23,0,0,0,,,,,,170,197,ENSG00000118137,ENST00000375329,,APOA1,0.82,benign,0.16,tolerated,0.46,1.98394,12.59,P02647_E200K,E,K,200,EK,E200K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.0101792,0,0.347133,0.934466
1782,P02647,E,K,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.25,,,,,,,,,17,383,ENSG00000118137,ENST00000375329,,APOA1,0.56,possibly_damaging,0.69,tolerated,0.09,2.93198,15.77,P02647_E138K,E,K,138,EK,E138K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00630361,0,0.214966,0.931224
2082,P37023,W,C,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.11,,,,,,,,,816,118,ENSG00000139567,ENST00000550683,,ACVRL1,0.12,possibly_damaging,0.882,tolerated,0.17,4.3512,22.9,P37023_W64C,W,C,64,WC,W64C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,,,,,,,,,,,,,,,0.890533
2097,P78386,R,H,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.2,0.041,0.027,0.048,0.03,,0.04,0.02,0.05,309,7167,ENSG00000135443,ENST00000257901,CCDS8824.1,KRT85,0.15,possibly_damaging,0.884,tolerated,0.48,0.574703,7.104,P78386_R78H,R,H,78,RH,R78H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.408,-4.422,2.014,,,,,,2.361,,84.02,0.00233065,0.002331,0.0794801,0.911965
2316,P20823,R,G,590,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.07,,,,,,,,,20857,1664,ENSG00000135100,ENST00000544413,,HNF1A,0.92,benign,0.084,deleterious,0.02,1.13658,9.632,P20823_R590G,R,G,590,RG,R590G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.0128781,0,0.43917,0.887999
2317,P20823,R,Q,590,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.07,0,0,0.001,,,,,,20858,1663,ENSG00000135100,ENST00000544413,,HNF1A,0.92,benign,0.171,deleterious,0.02,2.20327,13.32,P20823_R590Q,R,Q,590,RQ,R590Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.0128781,0,0.43917,0.938485
2637,P30793,G,D,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.17,,,,,,,,,106,59345,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.51,probably_damaging,0.997,deleterious,0,5.42119,35,P30793_G108D,G,D,108,GD,G108D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,T,A,0.46,-0.52,,,,0.000607528,0,0.020718,0.58694
2989,Q0VG99,I,F,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.23,,,,,,,,,384,1933,ENSG00000188095,ENST00000341735,CCDS42078.1,MESP2,0.32,probably_damaging,0.985,,,2.95766,15.86,Q0VG99_I129F,I,F,129,IF,I129F,Hydrophobic,Hydrophobic,6.02,3.32,-2.7,131,165,34,166.7,189.9,23.2,21,-1.86,-4.063,2.203,,,,,,1.092,,15.62,0.0015217,0,0.051893,0.764665
3013,P51798,R,W,743,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,,,,,,,,,1448,395,ENSG00000103249,ENST00000448525,CCDS45378.1,CLCN7,0.95,probably_damaging,1,deleterious,0,4.41303,23.4,P51798_R743W,R,W,743,RW,R743W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00251093,0,0.0856278,0.96958
3015,P51798,G,R,138,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,,,,,,,,,1434,409,ENSG00000103249,ENST00000565596,,CLCN7,0.88,,,,,3.55003,18.11,P51798_G138R,G,R,138,GR,G138R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.15,-3.663,2.513,,,,,,1.992,,62.98,0.00140681,0,0.0479752,0.834323
3036,P98161,Y,X,3819,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.13,,,,,,,,,153,38,ENSG00000008710,ENST00000262304,CCDS32369.1,PKD1,0.89,,,,,19.1181,52,P98161_Y3819X,Y,X,3819,YX,Y3819X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
3112,O95255,R,Q,1314,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.11,,,,,,,,,804,4840,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.87,probably_damaging,1,deleterious,0,4.49682,24.1,O95255_R1314Q,R,Q,1314,RQ,R1314Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.839,-3.723,2.884,,,,,,1.38,,36.53,0.000481299,0,0.0164133,0.848208
3113,O95255,G,E,1311,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.09,,,,,,,,,795,4849,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,0.87,probably_damaging,0.979,deleterious,0.04,3.17811,16.63,O95255_G1311E,G,E,1311,GE,G1311E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-1.46,-3.934,2.474,,,,,,3.3,,80.97,0.000949943,0,0.032395,0.862922
3374,Q9GZX3,L,P,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.24,,,,,,,,,3106,574,ENSG00000183196,ENST00000390664,CCDS10918.1,CHST6,0.7,probably_damaging,0.994,deleterious,0,4.15359,21.5,Q9GZX3_L276P,L,P,276,LP,L276P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.307,-3.971,2.664,,,,,,1.02,,59.75,0.00390765,0,0.133259,0.843935
3375,Q9GZX3,D,E,203,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.23,,,,,,,,,3324,792,ENSG00000183196,ENST00000390664,CCDS10918.1,CHST6,0.51,probably_damaging,1,deleterious,0,3.31917,17.16,Q9GZX3_D203E,D,E,203,DE,D203E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-0.924,-2.621,1.697,,,,,,,,,0.00102443,0,0.0349354,0.846707
3424,P55291,R,C,60,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.13,0,0,0,,,,,,7784,4055,ENSG00000129910,ENST00000289746,CCDS10976.1,CDH15,0.07,probably_damaging,0.972,deleterious,0,3.95768,20.2,P55291_R60C,R,C,60,RC,R60C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.821,-5.006,3.185,0.432,.,A,1.66,0.89,0.803,,74.08,0.00106344,0,0.0362654,0.81157
3567,Q7Z5J4,S,N,1808,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,,,,,,,,,14,5744,ENSG00000108557,ENST00000353383,CCDS11188.1,RAI1,0.95,possibly_damaging,0.583,tolerated,0.25,1.85816,12.17,Q7Z5J4_S1808N,S,N,1808,SN,S1808N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-2.088,-2.32,0.232,,,,,,28.183,28.183,88.98,,,,0.98442
3615,#N/A,E,X,101,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.2,,,,,,,,,435,3989,ENSG00000108753,ENST00000560016,,HNF1B,0.18,,,,,6.87673,38,#N/A_E101X,E,X,101,EX,E101X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
3849,Q13253,G,C,189,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.21,,,,,,,,,1089,803,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.81,probably_damaging,1,deleterious,0,4.77604,26.8,Q13253_G189C,G,C,189,GC,G189C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.809,-4.904,4.095,0.759,.,a,0.75,-0.98,,,,0.00345546,0,0.117838,0.558828
4154,P08246,C,R,71,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.25,,,,,,,,,728,3224,ENSG00000197561,ENST00000263621,CCDS12045.1,ELANE,0.27,probably_damaging,1,deleterious,0,2.09107,12.95,P08246_C71R,C,R,71,CR,C71R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.293,-3.935,2.642,0.057,H,A,1.66,-0.57,,,,0.000612124,0,0.0208747,0.53658
4157,P08246,P,L,139,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.15,,,,,,,,,3322,630,ENSG00000197561,ENST00000263621,CCDS12045.1,ELANE,0.52,probably_damaging,1,deleterious,0,2.63888,14.78,P08246_P139L,P,L,139,PL,P139L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,0.053,.,B,1.07,-0.34,,,,0.00425955,0,0.145259,0.534906
4178,O75251,V,M,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.23,,,,,,,,,3006,169,ENSG00000115286,ENST00000538929,,NDUFS7,0.41,probably_damaging,0.999,,,2.19108,13.28,O75251_V41M,V,M,41,VM,V41M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,,,,,,,,,,,,,,,0.960968
4179,O75251,R,H,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.16,,,,,,,,,3144,31,ENSG00000115286,ENST00000538929,,NDUFS7,0.65,possibly_damaging,0.85,,,2.39924,13.98,O75251_R64H,R,H,64,RH,R64H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,,,,0.959286
4272,Q13351,K,X,292,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.23,,,,,,,,,1848,934,ENSG00000105610,ENST00000264834,CCDS12285.1,KLF1,0.81,,,,,5.2845,33,Q13351_K292X,K,X,292,KX,K292X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00250629,0,0.0854696,0.964034
4301,Q9UM47,R,C,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.09,,,,,,,,,8740,32608,ENSG00000074181,ENST00000263388,CCDS12326.1,NOTCH3,0.06,probably_damaging,0.93,deleterious,0.04,3.62981,18.46,Q9UM47_R133C,R,C,133,RC,R133C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.578,-4.976,3.398,,,,,,0.855,,91.25,,,,0.78415
4327,O75462,W,G,76,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,,,,,,,,,7115,6509,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,0.18,probably_damaging,0.986,deleterious,0,3.87413,19.69,O75462_W76G,W,G,76,WG,W76G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-0.687,-3.475,2.788,,,,,,,,,0.000886742,0,0.0302397,0.763747
4401,P11509,L,H,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.19,0.018,0.005,0.025,0.01,,0.01,0.004,0.03,1820,5089,ENSG00000255974,ENST00000301141,CCDS12568.1,CYP2A6,0.32,possibly_damaging,0.707,deleterious,0,2.81479,15.37,P11509_L160H,L,H,160,LH,L160H,Hydrophobic,PositiveCharge,9.71,7.59,-2.12,131,155,24,166.7,153.2,-13.5,99,-1.773,-4.608,2.835,,H,A,0.72,-0.46,1.443,,84.41,0.00313759,0,0.106998,0.664567
4416,P50895,R,X,121,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.16,,,,,,,,,3238,8035,ENSG00000187244,ENST00000391955,CCDS42575.1,BCAM,0.21,,,,,3.55181,18.11,P50895_R121X,R,X,121,RX,R121X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00169441,0,0.057783,0.911978
4448,Q9H9S5,V,M,79,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.17,0.004,0.013,0,0.004,0.002,0.003,0.01,,9639,2891,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.16,benign,0.353,deleterious,0.01,1.17136,9.766,Q9H9S5_V79M,V,M,79,VM,V79M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.655,-4.014,2.359,,,,,,3.021,,81.82,0.00220601,0,0.0752296,0.88412
4454,Q9H9S5,Y,C,309,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.25,,,,,,,,,10330,2200,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.62,probably_damaging,0.947,deleterious,0.01,2.33866,13.78,Q9H9S5_Y309C,Y,C,309,YC,Y309C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.338,-4.762,3.424,,,,,,0.414,,47.27,0.00270873,0,0.0923733,0.804617
4508,Q8WX94,R,X,432,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.2,,,,,,,,,7981,16010,ENSG00000167634,ENST00000448121,CCDS12912.1,NLRP7,0.43,,,,,3.73122,18.95,Q8WX94_R432X,R,X,432,RX,R432X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
4518,P19429,P,S,82,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.2,0.006,0.02,0,0.003,,,0.01,,1494,4469,ENSG00000129991,ENST00000344887,CCDS42628.1,TNNI3,0.39,probably_damaging,0.997,tolerated,0.08,5.01056,29.5,P19429_P82S,P,S,82,PS,P82S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.035,-3.163,2.128,0.752,.,b,0.25,-0.41,,,,0.00573512,0,0.195579,0.684515
4617,Q9UBP0,P,Q,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.21,0,0,0,,,,,,258,93672,ENSG00000021574,ENST00000315285,CCDS1778.1,SPAST,0.07,,,tolerated,0.07,1.39069,10.58,Q9UBP0_P45Q,P,Q,45,PQ,P45Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.697,-2.282,0.585,,,,,,12.19,12.19,69.16,7.64e-05,0,0.00260601,1.01656
5026,Q8N490,A,V,9,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.2,,,,,,,,,41,2351,ENSG00000127838,ENST00000248451,CCDS42816.1,PNKD,0.06,probably_damaging,0.931,deleterious,0,4.59712,25,Q8N490_A9V,A,V,9,AV,A9V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.307,-2.76,1.453,,,,,,,,,0.000425057,0,0.0144953,0.922546
5052,Q14623,V,A,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.17,,,,,,,,,3027,3017,ENSG00000163501,ENST00000295731,CCDS33380.1,IHH,0.46,benign,0.349,deleterious,0,4.49403,24.1,Q14623_V190A,V,A,190,VA,V190A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.113,-2.67,1.557,,.,B,0.44,-0.78,,,,0.00165523,0,0.0564467,0.747214
5059,Q14623,P,L,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.23,,,,,,,,,137,5907,ENSG00000163501,ENST00000295731,CCDS33380.1,IHH,0.11,probably_damaging,0.999,deleterious,0,4.5065,24.2,Q14623_P46L,P,L,46,PL,P46L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.035,-3.36,2.325,0.526,.,B,1.07,-0.33,,,,0.00184206,0,0.062818,0.653546
5216,P21549,E,X,285,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.12,,,,,,,,,630,1578,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.73,,,,,9.11078,41,P21549_E285X,E,X,285,EX,E285X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00428195,0,0.146023,0.942205
5217,P21549,R,C,289,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,0,0,0.001,,,,,,642,1566,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.74,possibly_damaging,0.531,deleterious,0.01,3.01086,16.04,P21549_R289C,R,C,289,RC,R289C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-2.449,-5.439,2.99,0.585,H,A,1.66,1.96,1.465,,89.29,0.00536354,0,0.182908,0.765425
5221,P21549,Q,X,308,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.12,,,,,,,,,699,1509,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.79,,,,,6.57854,37,P21549_Q308X,Q,X,308,QX,Q308X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00541992,0,0.18483,0.937083
5258,Q8NBS3,R,Q,755,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.17,,,,,,,,,1093,245,ENSG00000088836,ENST00000380056,CCDS13052.1,SLC4A11,0.85,possibly_damaging,0.87,deleterious,0,6.07393,37,Q8NBS3_R755Q,R,Q,755,RQ,R755Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,,,,,,,,,0.00108365,0,0.0369545,0.781312
5312,Q9H1R3,A,V,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.08,0,0,0,0.001,,,0.004,,960,14357,ENSG00000101306,ENST00000375985,CCDS13191.1,MYLK2,0.15,probably_damaging,0.978,tolerated,0.19,2.96019,15.87,Q9H1R3_A87V,A,V,87,AV,A87V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.337,-1.93,0.593,,,,,,14.004,14.004,52.01,0.000702998,0,0.0239737,1.00468
5313,Q9H1R3,A,E,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.08,0.002,0.007,0,0.003,,,0.01,,984,14333,ENSG00000101306,ENST00000375985,CCDS13191.1,MYLK2,0.16,probably_damaging,0.991,tolerated,0.08,2.83883,15.46,Q9H1R3_A95E,A,E,95,AE,A95E,Hydrophobic,negativeCharge,6,3.22,-2.78,89,147,58,88.6,138.4,49.8,107,-1.175,-3.175,2,,,,,,,,,0.000399396,0,0.0136202,0.84357
5374,P10619,Q,R,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.16,,,,,,,,,300,2616,ENSG00000064601,ENST00000419493,,CTSA,0.14,probably_damaging,0.988,deleterious,0.02,5.33277,34,P10619_Q49R,Q,R,49,QR,Q49R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,-1.439,-3.219,1.78,0.028,E,B,0.56,-0.2,2.956,,62.45,0.0030615,0,0.104403,0.743757
5434,O43526,H,Q,228,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,,,,,,,,,27974,10986,ENSG00000075043,ENST00000359689,,KCNQ2,0.26,probably_damaging,0.974,deleterious,0.01,3.21402,16.77,O43526_H228Q,H,Q,228,HQ,H228Q,PositiveCharge,Polar,7.59,6.24,-1.35,155,146,-9,153.2,143.8,-9.4,24,-1.074,-3.831,2.757,,,,,,1.933,,62.84,0.000183018,0,0.00624129,0.866724
5448,P35713,W,R,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.24,,,,,,,,,408,1511,ENSG00000203883,ENST00000340356,CCDS13552.1,SOX18,0.25,probably_damaging,0.977,deleterious,0.01,3.2369,16.85,P35713_W95R,W,R,95,WR,W95R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.036,-4.014,2.978,,,,,,,,,,,,0.75077
5505,Q01196,K,E,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.17,,,,,,,,,318,181,ENSG00000159216,ENST00000486278,,RUNX1,0.45,possibly_damaging,0.887,deleterious,0,5.53231,35,Q01196_K86E,K,E,86,KE,K86E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,,,,,,,,,,,,0.000584012,0,0.019916,0.993904
5521,P35520,T,M,353,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.19,0,0,0,,,,,,8,1252,ENSG00000160200,ENST00000398165,CCDS13693.1,CBS,0.64,possibly_damaging,0.556,deleterious,0,2.23996,13.45,P35520_T353M,T,M,353,TM,T353M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,-1.966,-4.335,2.369,,H,A,0.77,0.13,2.647,,88.75,0.00306582,0,0.104551,0.743135
5644,O60733,R,W,693,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.13,,,,,,,,,315,669,ENSG00000184381,ENST00000335539,CCDS33645.1,PLA2G6,0.92,possibly_damaging,0.882,deleterious,0,3.42339,17.57,O60733_R693W,R,W,693,RW,R693W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00131135,0,0.0447196,0.910399
5701,O43819,Q,X,53,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.05,,,,,,,,,1350,253,ENSG00000130489,ENST00000395693,CCDS14095.1,SCO2,0.2,,,,,5.1989,33,O43819_Q53X,Q,X,53,QX,Q53X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000475252,0,0.0162071,0.98231
5710,P19971,R,Q,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.2,,,,,,,,,412,132,ENSG00000025708,ENST00000425169,,TYMP,0.1,probably_damaging,0.994,deleterious,0,4.49912,24.1,P19971_R44Q,R,Q,44,RQ,R44Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.582,-2.193,0.611,0.585,H,A,0.56,-0.33,7.235,7.235,33.82,0.00139276,0,0.0474958,0.882922
5712,P15289,Q,X,486,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.08,,,,,,,,,2943,180,ENSG00000100299,ENST00000547805,,ARSA,0.96,,,,,4.73591,26.4,P15289_Q486X,Q,X,486,QX,Q486X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00569928,0,0.194357,0.926666
5742,P15289,G,D,86,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.13,,,,,,,,,788,777,ENSG00000100299,ENST00000547805,,ARSA,0.17,probably_damaging,1,deleterious,0,5.27102,33,P15289_G86D,G,D,86,GD,G86D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.005,-3.432,2.427,,T,l,0.46,-0.26,0.778,,48.13,0.00202185,0,0.0689491,0.587511
5743,P15289,R,Q,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.13,,,,,,,,,782,783,ENSG00000100299,ENST00000547805,,ARSA,0.17,probably_damaging,1,deleterious,0,5.5813,35,P15289_R84Q,R,Q,84,RQ,R84Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.184,-3.266,2.082,0.222,T,A,0.56,-0.16,,,,0.000781936,0,0.0266656,0.747404
5794,P40337,Y,H,98,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.26,,,,,,,,,351,892,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.57,probably_damaging,0.946,deleterious,0.01,4.95571,28.8,P40337_Y98H,Y,H,98,YH,Y98H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.181,-3.557,2.376,0.177,.,B,0.38,-0.51,,,,0.00607622,0,0.207212,0.588624
5903,Q99836,L,P,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.15,,,,,,,,,175,1602,ENSG00000172936,ENST00000443433,CCDS54566.1,MYD88,0.52,probably_damaging,1,deleterious,0,3.84898,19.55,Q99836_L106P,L,P,106,LP,L106P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,,,,0.939072
5976,Q02388,G,D,2006,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.09,,,,,,,,,9019,11429,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.68,,,,,3.27386,16.99,Q02388_G2006D,G,D,2006,GD,G2006D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,,,,,,,,0.769342
5983,Q9BU61,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.7,0.28,,,,,,,,,25,1031,ENSG00000178057,ENST00000326925,CCDS2784.1,NDUFAF3,0.01,benign,0.123,deleterious,0,2.90183,15.67,Q9BU61_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.655,-3.192,1.537,,,,,,4.03,,80.43,0.00268738,0,0.0916451,0.9578
6152,P14770,C,R,24,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.05,,,,,,,,,1042,598,ENSG00000169704,ENST00000307395,CCDS3055.1,GP9,0.14,probably_damaging,0.999,deleterious,0,1.63169,11.41,P14770_C24R,C,R,24,CR,C24R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.204,-3.971,2.767,,,,,,1.119,,28.25,0.0037089,0.0130719,0.126481,0.804091
6153,P14770,D,G,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.09,,,,,,,,,1082,558,ENSG00000169704,ENST00000307395,CCDS3055.1,GP9,0.21,possibly_damaging,0.857,deleterious,0.03,3.24852,16.89,P14770_D37G,D,G,37,DG,D37G,negativeCharge,Special,5.05,3.29,-1.76,133,75,-58,111.1,60.1,-51,94,-1.173,-2.988,1.815,,,,,,4.559,,71.19,0.00479941,0,0.16367,1.03509
6155,P14770,N,S,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,0.001,0,0.001,,,,,,1154,486,ENSG00000169704,ENST00000307395,CCDS3055.1,GP9,0.34,probably_damaging,0.998,deleterious,0,2.69702,14.98,P14770_N61S,N,S,61,NS,N61S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-0.922,-2.845,1.923,,,,,,,,,0.00169724,0,0.0578792,0.839214
6307,P48431,Q,X,155,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.2,,,,,,,,,889,492,ENSG00000181449,ENST00000431565,CCDS3239.1,SOX2,0.49,,,,,7.34316,39,P48431_Q155X,Q,X,155,QX,Q155X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.0043885,0,0.149657,0.941271
6317,Q13144,R,P,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.2,,,,,,,,,146,1434,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.07,probably_damaging,0.913,tolerated,0.24,4.24346,22.1,Q13144_R54P,R,P,54,RP,R54P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.426,-3.72,2.294,,,,,,1.398,,76.7,0.00163694,0,0.055823,0.842039
6440,P22607,X,R,695,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.7,0.11,,,,,,,,,13364,1606,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,1,,,,,1.15625,9.708,P22607_X695R,X,R,695,XR,X695R,Stop,PositiveCharge,5.71,6.34,0.63,132.5,174,41.5,141.9,173.4,31.5,,,,,,,,,,,,,0.00208695,0,0.0711691,0.952641
6441,P22607,X,G,695,CodingTranscript,STOP_LOST,7,stop_lost,pathogenic,0.7,0.11,,,,,,,,,13364,1606,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,1,,,,,0.963501,8.931,P22607_X695G,X,G,695,XG,X695G,Stop,Special,5.71,3.29,-2.42,132.5,75,-57.5,141.9,60.1,-81.8,,,,,,,,,,,,,0.00208695,0,0.0711691,0.940718
6442,P22607,K,X,785,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.11,,,,,,,,,13366,1604,ENSG00000068078,ENST00000481110,,FGFR3,0.99,,,,,7.50373,39,P22607_K785X,K,X,785,KX,K785X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.0121265,0,0.413537,0.919254
6583,Q16836,A,T,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.23,,,,,,,,,148,15285,ENSG00000138796,ENST00000309522,CCDS3678.1,HADH,0.13,benign,0.174,deleterious,0.01,3.68003,18.7,Q16836_A40T,A,T,40,AT,A40T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.378,-2.934,1.556,0.126,H,A,0.22,-0.69,7.69,,93.63,0.00609073,0,0.207707,0.828316
6712,O14746,G,C,677,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.2,,,,,,,,,3619,12942,ENSG00000164362,ENST00000296820,,TERT,0.84,probably_damaging,0.999,deleterious,0,2.48307,14.26,O14746_G677C,G,C,677,GC,G677C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.809,-4.904,4.095,,,,,,,,,0.000440646,0,0.0150269,0.779435
6715,O14746,A,T,279,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.16,0.021,0.005,0.03,0.01,,0.01,0.002,0.04,939,508,ENSG00000164362,ENST00000296820,,TERT,0.35,possibly_damaging,0.686,tolerated,0.45,1.93311,12.42,O14746_A279T,A,T,279,AT,A279T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.61,-2.068,0.458,,,,,,16.162,16.162,65.72,0.000536688,0,0.0183022,1.01533
6887,P78337,E,K,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.21,,,,,,,,,721,4,ENSG00000069011,ENST00000265340,CCDS4182.1,PITX1,0.41,probably_damaging,0.975,deleterious,0,5.8439,36,P78337_E130K,E,K,130,EK,E130K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.255,-2.742,1.487,,,,,,,,,0.00128822,0,0.0439309,0.838185
6996,P52952,R,C,190,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.2,,,,,,,,,2231,81,ENSG00000183072,ENST00000329198,CCDS4387.1,NKX2-5,0.59,probably_damaging,0.997,deleterious,0,3.56736,18.18,P52952_R190C,R,C,190,RC,R190C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.00120764,0,0.041183,0.695737
7033,O15303,C,Y,522,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.15,0,0,0,,,,,,437,246,ENSG00000113262,ENST00000231188,CCDS4442.1,GRM6,0.6,benign,0.418,deleterious,0,3.41673,17.55,O15303_C522Y,C,Y,522,CY,C522Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.412,-3.898,2.486,,,,,,,,,0.000107368,0,0.00366148,0.80556
7038,O95450,Q,X,225,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.08,,,,,,,,,72505,122038,ENSG00000087116,ENST00000274609,CCDS34311.1,ADAMTS2,0.4,,,,,4.37704,23.1,O95450_Q225X,Q,X,225,QX,Q225X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
7054,Q9BVA1,F,L,265,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.19,,,,,,,,,2440,1013,ENSG00000137285,ENST00000259818,CCDS4485.1,TUBB2B,0.6,benign,0.08,,,2.42898,14.08,Q9BVA1_F265L,F,L,265,FL,F265L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.87,-2.511,0.641,,E,B,0.03,-1.08,,,,0.000493563,0,0.0168315,0.839117
7330,Q8NES3,F,L,117,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.16,,,,,,,,,1708,1571,ENSG00000106003,ENST00000402506,CCDS55081.1,LFNG,0.38,possibly_damaging,0.758,deleterious,0,4.92691,28.5,Q8NES3_F117L,F,L,117,FL,F117L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,,,,,,,,,,,,,,,0.940953
7344,Q15672,Q,P,119,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.26,,,,,,,,,42,1498,ENSG00000122691,ENST00000242261,CCDS5367.1,TWIST1,0.59,probably_damaging,0.999,deleterious,0,3.74388,19.01,Q15672_Q119P,Q,P,119,QP,Q119P,Polar,Special,6.24,6.3,0.06,146,115,-31,143.8,112.7,-31.1,76,-1.493,-3.554,2.061,,,,,,0.379,,20.79,0.00891859,0.0240964,0.304142,0.806955
7414,P35557,,,,Transcript,CANONICAL_SPLICE,6,splice_donor,pathogenic,0.7,0.19,,,,,,,,,317,817,ENSG00000106633,ENST00000403799,CCDS5479.1,GCK,,,,,,3.9742,20.3,P35557_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
7454,P04424,V,M,178,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.09,0,0,0.001,,,,,,943,410,ENSG00000126522,ENST00000395331,CCDS47597.1,ASL,0.4,possibly_damaging,0.439,tolerated,0.22,2.08727,12.94,P04424_V178M,V,M,178,VM,V178M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.329,-2.41,1.081,0.408,H,A,0.11,-0.91,14.347,14.347,88.58,0.00377227,0,0.128642,0.888247
7475,P16435,C,Y,569,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.17,,,,,,,,,389,214,ENSG00000127948,ENST00000394893,,POR,0.9,probably_damaging,0.998,deleterious,0,4.17872,21.6,P16435_C569Y,C,Y,569,CY,C569Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00366682,0,0.125046,0.941339
7860,P11362,G,S,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.12,,,,,,,,,87,178,ENSG00000077782,ENST00000525001,,FGFR1,0.16,probably_damaging,1,deleterious,0,5.74784,36,P11362_G48S,G,S,48,GS,G48S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,,,,,0.000910231,0,0.0310408,0.859363
7948,Q7Z7G8,E,X,3749,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.12,,,,,,,,,7693,9191,ENSG00000132549,ENST00000358544,CCDS6280.1,VPS13B,0.93,,,,,21.8276,54,Q7Z7G8_E3749X,E,X,3749,EX,E3749X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
8010,P15538,A,D,368,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.08,,,,,,,,,68,1905,ENSG00000160882,ENST00000517471,CCDS34953.1,CYP11B1,0.84,probably_damaging,0.982,deleterious,0,3.23312,16.84,P15538_A368D,A,D,368,AD,A368D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.271,-3.512,2.241,,,,,,1.83,,49.11,0.0022478,0,0.0766545,0.8505
8068,P20594,P,T,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.11,,,,,,,,,93,17231,ENSG00000159899,ENST00000342694,CCDS6590.1,NPR2,0.03,benign,0.252,deleterious,0,3.48857,17.84,P20594_P32T,P,T,32,PT,P32T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.115,-3.157,2.042,,,,,,,,,0.000537118,0,0.0183168,0.865289
8085,Q9UBQ7,W,X,34,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.09,,,,,,,,,2138,1788,ENSG00000137106,ENST00000377824,,GRHPR,0.09,,,,,6.03935,37,Q9UBQ7_W34X,W,X,34,WX,W34X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00489845,0,0.167047,0.912516
8231,Q9P202,Q,X,103,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.19,,,,,,,,,156,944,ENSG00000095397,ENST00000362057,CCDS6806.1,DFNB31,0.11,,,,,7.76261,39,Q9P202_Q103X,Q,X,103,QX,Q103X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000262282,0,0.00894435,0.98231
8245,Q13285,M,I,78,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.17,,,,,,,,,4147,2662,ENSG00000136931,ENST00000455734,,NR5A1,0.44,possibly_damaging,0.819,deleterious,0,5.27931,33,Q13285_M78I,M,I,78,MI,M78I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.768,-3.237,1.469,,.,B,0.07,0,2.941,,55.53,0.00076012,0,0.0259217,0.864752
8252,O60663,R,X,208,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.2,,,,,,,,,78804,3179,ENSG00000136944,ENST00000425646,,LMX1B,0.56,,,,,5.6113,36,O60663_R208X,R,X,208,RX,R208X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
8339,Q8N130,G,R,196,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.11,,,,,,,,,2301,3321,ENSG00000198569,ENST00000538474,CCDS7038.1,SLC34A3,0.33,possibly_damaging,0.76,deleterious,0,2.06009,12.85,Q8N130_G196R,G,R,196,GR,G196R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.695,-2.568,0.873,,,,,,23.778,23.778,79.3,0.000986344,0,0.0336364,0.960685
8417,P08559,R,P,10,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.2,,,,,,,,,98,6033,ENSG00000131828,ENST00000355808,,PDHA1,0.05,benign,0.29,deleterious,0,3.37537,17.38,P08559_R10P,R,P,10,RP,R10P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.941,-3.615,1.674,,,,,,1.425,,78.21,0.00194954,0,0.0664833,0.922862
8471,P51843,W,X,235,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.16,,,,,,,,,172,2839,ENSG00000169297,ENST00000453287,,NR0B1,0.59,,,,,5.02633,29.7,P51843_W235X,W,X,235,WX,W235X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00173573,0,0.059192,0.892811
8473,P51843,W,C,105,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.24,,,,,,,,,330,3228,ENSG00000169297,ENST00000453287,,NR0B1,0.26,probably_damaging,0.999,deleterious,0,2.67111,14.89,P51843_W105C,W,C,105,WC,W105C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.491,-4.888,3.397,,,,,,0.403,,44.68,0.00114021,0,0.0388835,0.766317
8830,Q9GZU5,W,X,350,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.7,0.19,,,,,,,,,2321,793,ENSG00000188937,ENST00000378220,CCDS14256.1,NYX,0.73,,,,,6.84289,38,Q9GZU5_W350X,W,X,350,WX,W350X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000790647,0,0.0269627,0.956807
9684,P33897,E,K,106,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.15,,,,,,,,,320,3587,ENSG00000101986,ENST00000370129,,ABCD1,0.47,probably_damaging,1,deleterious,0,4.99626,29.3,P33897_E106K,E,K,106,EK,E106K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00131207,0,0.0447444,0.913069
9705,P30518,D,N,85,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.7,0.15,,,,,,,,,645,1023,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.23,probably_damaging,1,deleterious,0,4.16266,21.5,P30518_D85N,D,N,85,DN,D85N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-0.985,-3.04,2.055,,,,,,,,,0.000699091,0,0.0238405,0.870986
148,Q14767,S,I,518,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.71,0.08,0.01,0.002,0.014,0.004,,,,0.01,985,8852,ENSG00000119681,ENST00000261978,CCDS9831.1,LTBP2,0.28,benign,0.008,tolerated,0.1,1.42449,10.7,Q14767_S518I,S,I,518,SI,S518I,Polar,Hydrophobic,5.68,6.02,0.34,105,131,26,89,166.7,77.7,142,-2.443,-3.184,0.741,,,,,,22.963,22.963,77.59,,,,0.958646
180,P54098,R,Q,193,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.71,0.15,0.001,0.002,0,0.001,,,0.002,,68,848,ENSG00000140521,ENST00000442287,CCDS10350.1,POLG,0.16,benign,0.003,tolerated,0.37,2.00807,12.67,P54098_R193Q,R,Q,193,RQ,R193Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.507,-2.883,0.376,,,,,,18.648,18.648,85.71,0.000542887,0,0.02147,1.02113
183,P50895,R,H,77,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.71,0.17,0.031,0.028,0.032,0.02,,0.03,0.02,0.03,3107,8166,ENSG00000187244,ENST00000391955,CCDS42575.1,BCAM,0.13,benign,0.008,deleterious,0.02,2.93625,15.79,P50895_R77H,R,H,77,RH,R77H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.653,-3.095,1.442,0.406,E,B,1.03,0.36,26.101,26.101,79.3,0.0014466,0,0.0572099,0.902067
372,Q6ZVN8,C,R,80,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.17,,,,,,,,,2140,43,ENSG00000168509,ENST00000336751,CCDS910.1,HFE2,0.19,probably_damaging,0.998,deleterious,0,4.29485,22.5,Q6ZVN8_C80R,C,R,80,CR,C80R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.194,-3.975,2.781,,,,,,,,,0.000715789,0,0.0244099,0.785818
892,P14222,W,X,374,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.71,0.12,,,,,,,,,483,1250,ENSG00000180644,ENST00000318971,CCDS7305.1,PRF1,0.67,,,,,7.77919,39,P14222_W374X,W,X,374,WX,W374X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00363453,0,0.123945,0.931205
929,Q7LGC8,L,P,307,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.21,,,,,,,,,43586,5614,ENSG00000122863,ENST00000373115,CCDS7312.1,CHST3,0.64,probably_damaging,0.981,deleterious,0,3.62729,18.45,Q7LGC8_L307P,L,P,307,LP,L307P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.285,-3.868,2.583,,,,,,2.033,,85.8,0.00261534,0,0.0891887,0.864964
1178,P07101,R,H,306,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.2,,,,,,,,,82,202,ENSG00000180176,ENST00000352909,CCDS7730.1,TH,0.62,probably_damaging,1,deleterious,0,4.47517,23.9,P07101_R306H,R,H,306,RH,R306H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,,,,,,,,,,,,0.00170219,0,0.0580482,0.936215
1663,Q9ULV1,G,D,36,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.21,,,,,,,,,413,9300,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.07,benign,0.002,deleterious,0.01,3.03862,16.14,Q9ULV1_G36D,G,D,36,GD,G36D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.457,-3.431,1.974,,,,,,2.181,,74.67,0.00150641,0.00399202,0.0513715,0.8896
1780,P02647,V,E,158,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.26,,,,,,,,,45,322,ENSG00000118137,ENST00000375329,,APOA1,0.64,probably_damaging,0.976,deleterious,0,4.01203,20.6,P02647_V158E,V,E,158,VE,V158E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,,,,,,,,,,,,0.00566694,0,0.193254,0.949131
1781,P02647,P,R,145,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.26,,,,,,,,,6,361,ENSG00000118137,ENST00000375329,,APOA1,0.59,possibly_damaging,0.876,deleterious,0,3.49166,17.86,P02647_P145R,P,R,145,PR,P145R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-0.956,-4.046,3.09,0.602,T,A,0.68,0,1.04,,38.2,0.00407565,0,0.138988,0.66206
2164,O15528,R,H,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.23,,,,,,,,,384,603,ENSG00000111012,ENST00000228606,CCDS8954.1,CYP27B1,0.21,probably_damaging,0.999,deleterious,0,5.39778,34,O15528_R107H,R,H,107,RH,R107H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.331,-4.193,2.862,,,,,,0.734,,59.25,0.000788979,0,0.0269058,0.860502
2764,Q9BXJ7,T,I,41,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.24,,,,,,,,,867,7053,ENSG00000166126,ENST00000299155,CCDS9977.1,AMN,0.09,possibly_damaging,0.794,tolerated,0.17,1.9252,12.4,Q9BXJ7_T41I,T,I,41,TI,T41I,Polar,Hydrophobic,5.6,6.02,0.42,119,131,12,116.1,166.7,50.6,89,-1.32,-3.51,2.19,,,,,,1.961,,75.06,0.00223078,0,0.0760741,0.876244
3005,P69905,G,G,23,CodingTranscript,SYNONYMOUS,5,synonymous,pathogenic,0.71,0.19,,,,,,,,,37,483,ENSG00000188536,ENST00000251595,CCDS10398.1,HBA2,0.16,,,,,0.594274,7.205,P69905_G23G,G,G,23,GG,G23G,Special,Special,3.29,3.29,0,75,75,0,60.1,60.1,0,0,,,,,,,,,,,,0.00708032,0,0.241454,0.96037
3014,P51798,C,R,142,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.12,,,,,,,,,1446,397,ENSG00000103249,ENST00000565596,,CLCN7,0.91,,,,,2.84709,15.48,P51798_C142R,C,R,142,CR,C142R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-1.412,-3.893,2.481,,,,,,,,,0.00116065,0,0.0395804,0.724005
3039,P98161,R,L,324,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.19,0.002,0,0.002,,,,,,58,1429,ENSG00000008710,ENST00000262304,CCDS32369.1,PKD1,0.08,benign,0,deleterious,0.02,1.42147,10.69,P98161_R324L,R,L,324,RL,R324L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.882,-3.289,1.407,,,,,,8.936,,81.73,,,,0.912034
3285,Q9BQB6,V,A,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.29,,,,,,,,,7,3414,ENSG00000167397,ENST00000394975,CCDS10703.1,VKORC1,0.28,probably_damaging,0.99,deleterious,0.01,5.01934,29.6,Q9BQB6_V45A,V,A,45,VA,V45A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.329,-2.752,1.423,,,,,,2.439,,54.6,0.0116786,0,0.398266,0.850698
3468,Q04844,A,P,431,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.17,,,,,,,,,383,975,ENSG00000108556,ENST00000293780,CCDS11058.1,CHRNE,0.87,probably_damaging,0.995,deleterious,0.01,4.71893,26.2,Q04844_A431P,A,P,431,AP,A431P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.354,-3.543,2.189,,,,,,1.303,,49.09,0.00359437,0,0.122575,0.877351
3960,Q7Z403,R,X,94,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.71,0.12,,,,,,,,,2905,12958,ENSG00000141524,ENST00000306591,,TMC6,0.21,,,,,6.27716,37,Q7Z403_R94X,R,X,94,RX,R94X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3997,Q15583,Y,X,59,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.71,0.15,0,0,0,,,,,,432,4958,ENSG00000177426,ENST00000330513,CCDS11834.1,TGIF1,0.15,,,,,4.26127,22.2,Q15583_Y59X,Y,X,59,YX,Y59X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000263158,0,0.00897422,0.970188
4153,P08246,A,V,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.26,,,,,,,,,699,3253,ENSG00000197561,ENST00000263621,CCDS12045.1,ELANE,0.23,possibly_damaging,0.886,tolerated,0.14,1.95723,12.5,P08246_A61V,A,V,61,AV,A61V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.513,-3.051,1.538,0.117,E,b,0.44,-0.48,5.117,,71.54,0.00677112,0.00485437,0.230909,0.798219
4423,P02649,R,Q,152,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.24,,,,,,,,,2391,194,ENSG00000130203,ENST00000446996,,APOE,0.7,probably_damaging,0.987,deleterious,0.01,3.88943,19.77,P02649_R152Q,R,Q,152,RQ,R152Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.224,-2.691,1.467,,H,A,0.56,-0.07,14.105,14.105,74.76,0.00235732,0,0.0803896,0.843707
4453,Q9H9S5,V,A,300,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.24,,,,,,,,,10303,2227,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.61,possibly_damaging,0.63,deleterious,0,2.98575,15.96,Q9H9S5_V300A,V,A,300,VA,V300A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.332,-2.797,1.465,,,,,,3.897,,83.03,0.00288819,0,0.0984931,0.968332
4616,Q9UBP0,S,L,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.23,0.007,0.002,0.009,0.003,,,0.002,0.01,255,93675,ENSG00000021574,ENST00000315285,CCDS1778.1,SPAST,0.07,,,deleterious,0,2.13571,13.1,Q9UBP0_S44L,S,L,44,SL,S44L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.813,-2.024,0.211,,,,,,29.139,29.139,82.14,7.94e-05,0,0.00270894,1.00462
5051,Q9GZT5,C,X,376,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.71,0.23,,,,,,,,,77,2,ENSG00000135925,ENST00000258411,CCDS2426.1,WNT10A,0.9,,,,,9.59104,42,Q9GZT5_C376X,C,X,376,CX,C376X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00402306,0,0.137195,0.953637
5215,P21549,L,P,284,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.12,,,,,,,,,628,1580,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.72,probably_damaging,0.999,deleterious,0,3.94064,20.1,P21549_L284P,L,P,284,LP,L284P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.189,-3.413,2.224,0.007,H,A,1.07,1.19,17.795,17.795,83.42,0.00337182,0,0.114986,0.789065
5310,Q9NZR4,L,P,17,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.21,,,,,,,,,85,606,ENSG00000100987,ENST00000429762,,VSX1,0.06,probably_damaging,0.96,deleterious,0,2.94418,15.81,Q9NZR4_L17P,L,P,17,LP,L17P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.6,-3.939,2.339,,,,,,1.795,,81.1,0.000875132,0,0.0298438,0.871419
5586,P15814,Q,X,22,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.71,0.07,,,,,,,,,113,6758,ENSG00000128322,ENST00000330377,CCDS13809.1,IGLL1,0.1,,,,,3.49208,17.86,P15814_Q22X,Q,X,22,QX,Q22X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00203527,0,0.0694068,0.963541
5664,P00387,G,D,269,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.17,,,,,,,,,13545,60,ENSG00000100243,ENST00000407623,CCDS14040.1,CYB5R3,0.97,probably_damaging,0.95,deleterious,0.01,4.01314,20.6,P00387_G269D,G,D,269,GD,G269D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00865529,0,0.295163,0.928575
5936,Q8WTS1,E,K,7,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.25,0.001,0.002,0,0.002,,,0.01,,60,8735,ENSG00000011198,ENST00000458276,CCDS2711.1,ABHD5,0.02,benign,0.013,tolerated,0.28,1.47633,10.88,Q8WTS1_E7K,E,K,7,EK,E7K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.568,-2.868,1.3,,,,,,3.727,,68.19,0.00163521,0.00584795,0.0557639,0.960633
6154,P14770,L,P,56,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.11,,,,,,,,,1139,501,ENSG00000169704,ENST00000307395,CCDS3055.1,GP9,0.32,probably_damaging,0.999,deleterious,0,2.24855,13.48,P14770_L56P,L,P,56,LP,L56P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.041,-4.021,2.98,,,,,,1.164,,78.53,0.00385005,0.00826446,0.131295,0.844747
6415,P35475,Q,X,178,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.71,0.2,,,,,,,,,625,48,ENSG00000127415,ENST00000514224,,IDUA,0.34,,,,,5.72606,36,P35475_Q178X,Q,X,178,QX,Q178X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000391436,0,0.0133488,0.98231
6425,P22607,S,L,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.09,,,,,,,,,5499,9471,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,0.12,probably_damaging,0.917,tolerated,0.21,2.8373,15.45,P22607_S84L,S,L,84,SL,S84L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-1.607,-3.219,1.612,,,,,,2.199,,71.71,0.00128401,0,0.0437872,1.02748
6649,Q6ZWL3,W,R,44,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.19,0,0,0,,,,,,433,18849,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.08,benign,0.008,tolerated,0.48,0.756723,8.007,Q6ZWL3_W44R,W,R,44,WR,W44R,Hydrophobic,PositiveCharge,5.89,6.34,0.45,204,174,-30,227.8,173.4,-54.4,101,-1.425,-3.965,2.54,,,,,,1.396,,78.29,0.00233198,0.004158,0.0795255,0.850632
6711,O14746,G,D,682,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.2,,,,,,,,,3635,12926,ENSG00000164362,ENST00000296820,,TERT,0.85,possibly_damaging,0.624,deleterious,0,2.68039,14.92,O14746_G682D,G,D,682,GD,G682D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,,,,,,,,0.000751371,0,0.0256233,0.809106
6992,P52952,Y,X,256,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.71,0.24,,,,,,,,,2431,118,ENSG00000183072,ENST00000329198,CCDS4387.1,NKX2-5,0.79,,,,,4.36057,23,P52952_Y256X,Y,X,256,YX,Y256X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00616458,0,0.210225,0.912838
7006,P22455,G,R,388,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.19,0.242,0.129,0.301,0.3,0.45,0.34,0.12,0.29,67,174,ENSG00000160867,ENST00000502906,CCDS4410.1,FGFR4,0.48,possibly_damaging,0.515,tolerated,0.1,3.74308,19.01,P22455_G388R,G,R,388,GR,G388R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.466,-3.94,2.474,,,,,,1.409,,65.96,0.000772389,0,0.0263401,0.840116
7413,P35557,A,T,361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.33,,,,,,,,,512,27,ENSG00000106633,ENST00000437084,,GCK,0.81,possibly_damaging,0.626,deleterious,0,5.1609,32,P35557_A361T,A,T,361,AT,A361T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00308563,0,0.105226,0.968401
7747,Q15465,A,T,226,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.21,,,,,,,,,5460,3563,ENSG00000164690,ENST00000297261,CCDS5942.1,SHH,0.49,,,tolerated,0.05,3.34529,17.26,Q15465_A226T,A,T,226,AT,A226T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.354,-3.03,1.676,,,,,,4.693,,76.19,0.00379965,0,0.129576,0.963554
8829,Q9GZU5,I,T,101,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.25,,,,,,,,,1574,46,ENSG00000188937,ENST00000378220,CCDS14256.1,NYX,0.21,probably_damaging,0.998,deleterious,0,4.21333,21.9,Q9GZU5_I101T,I,T,101,IT,I101T,Hydrophobic,Polar,6.02,5.6,-0.42,131,119,-12,166.7,116.1,-50.6,89,-1.087,-3.296,2.209,,,,,,,,,0.000820482,0,0.0279801,0.832988
9683,P33897,G,R,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.71,0.21,,,,,,,,,245,3662,ENSG00000101986,ENST00000370129,,ABCD1,0.36,probably_damaging,0.999,deleterious,0,3.73415,18.96,P33897_G81R,G,R,81,GR,G81R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.000334639,0,0.0114119,0.972859
20,Q9NYJ7,R,L,516,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.72,0.21,,,,,,,,,8575,987,ENSG00000090932,ENST00000205143,CCDS12538.1,DLL3,0.83,possibly_damaging,0.759,deleterious,0.01,5.45377,35,Q9NYJ7_R516L,R,L,516,RL,R516L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,-1.435,-3.442,2.007,,,,,,3.56,,75.4,0.000649348,0,0.0256803,0.885839
395,O43526,S,L,855,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.72,0.19,,,,,,,,,65940,252,ENSG00000075043,ENST00000359689,,KCNQ2,0.98,probably_damaging,0.999,deleterious,0,3.39271,17.45,O43526_S855L,S,L,855,SL,S855L,Polar,Hydrophobic,5.68,9.71,4.03,105,131,26,89,166.7,77.7,145,-0.98,-3.313,2.333,,,,,,4.417,,69.84,0.00569651,0,0.225285,0.856417
182,P56696,F,L,182,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.28,,,,,,,,,447,20006,ENSG00000117013,ENST00000509682,,KCNQ4,0.28,benign,0.002,tolerated,1,0.606487,7.268,P56696_F182L,F,L,182,FL,F182L,Hydrophobic,Hydrophobic,3.32,9.71,6.39,165,131,-34,189.9,166.7,-23.2,22,-1.757,-1.571,-0.186,,,,,,25.827,25.827,68.78,0.00128569,0,0.0438446,1.0138
744,P68133,E,V,173,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.21,,,,,,,,,2075,770,ENSG00000143632,ENST00000366683,,ACTA1,0.6,probably_damaging,1,,,3.14564,16.52,P68133_E173V,E,V,173,EV,E173V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,,,,,,,,,,,,0.000525974,0,0.0179368,0.984848
1726,P24752,M,K,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.72,0.17,,,,,,,,,24,10347,ENSG00000075239,ENST00000265838,CCDS8339.1,ACAT1,0,benign,0.013,deleterious,0,3.61162,18.38,P24752_M1K,M,K,1,MK,M1K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,-1.969,-3.318,1.349,,,,,,2.187,,87.82,0.000626702,0,0.0213718,0.963017
1775,P02647,A,P,177,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.29,,,,,,,,,101,266,ENSG00000118137,ENST00000375329,,APOA1,0.72,possibly_damaging,0.641,deleterious,0.03,3.56423,18.17,P02647_A177P,A,P,177,AP,A177P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,,,,,,,,,,,,0.0065162,0,0.222216,0.952511
2078,P41181,P,L,262,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.23,,,,,,,,,549,867,ENSG00000167580,ENST00000199280,CCDS8792.1,AQP2,0.97,benign,0.141,tolerated,0.13,3.56526,18.17,P41181_P262L,P,L,262,PL,P262L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.347,-3.289,1.942,,,,,,4.507,,67.16,0.0117438,0,0.400489,0.862699
2315,P20823,S,G,581,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.09,0.987,0.962,1,0.99,1,0.99,0.96,1,20830,1691,ENSG00000135100,ENST00000544413,,HNF1A,0.91,benign,0,tolerated,0.87,-0.627133,1.22,P20823_S581G,S,G,581,SG,S581G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,,,,,,,,,,,,0.00485171,0,0.165453,0.955372
2371,P52945,E,K,224,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.24,,,,,,,,,4499,1713,ENSG00000139515,ENST00000381033,CCDS9327.1,PDX1,0.79,benign,0.304,deleterious,0.01,3.11592,16.41,P52945_E224K,E,K,224,EK,E224K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.423,-2.737,1.314,,,,,,8.279,,68.55,0.00633615,0,0.216076,0.885965
2379,O00287,Q,X,55,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.72,0.17,,,,,,,,,296,9585,ENSG00000133111,ENST00000255476,CCDS9359.1,RFXAP,0.2,,,,,5.71502,36,O00287_Q55X,Q,X,55,QX,Q55X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
2474,P02462,G,R,1236,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.09,,,,,,,,,136567,21612,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0.74,probably_damaging,0.998,deleterious,0.02,5.09462,31,P02462_G1236R,G,R,1236,GR,G1236R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.676,-3.872,3.196,,,,,,,,,9.11e-05,0,0.00310582,0.792676
3038,P98161,L,S,845,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.17,,,,,,,,,8,7548,ENSG00000008710,ENST00000262304,CCDS32369.1,PKD1,0.2,probably_damaging,0.994,deleterious,0,3.03531,16.13,P98161_L845S,L,S,845,LS,L845S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,-1.088,-3.512,2.424,,,,,,1.349,,41.72,,,,0.726413
3287,Q9BQB6,V,L,29,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.29,,,,,,,,,43,3470,ENSG00000167397,ENST00000394975,CCDS10703.1,VKORC1,0.18,probably_damaging,0.995,deleterious,0.02,5.25553,33,Q9BQB6_V29L,V,L,29,VL,V29L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.201,-2.46,1.259,,,,,,,,,0.00604784,0,0.206244,0.879433
3384,#N/A,R,S,15,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.29,,,,,,,,,204,65180,ENSG00000127688,ENST00000248272,CCDS10935.1,GAN,0.03,benign,0.003,deleterious,0.02,3.62745,18.45,#N/A_R15S,R,S,15,RS,R15S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,,,,,,,,,,,,,,,0.912913
3405,P13498,Q,X,3,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.72,0.23,,,,,,,,,9,929,ENSG00000051523,ENST00000567174,,CYBA,0.01,,,,,6.05149,37,P13498_Q3X,Q,X,3,QX,Q3X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00752569,0,0.256642,0.918384
3747,P08514,V,F,934,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.15,,,,,,,,,14467,2856,ENSG00000005961,ENST00000353281,,ITGA2B,0.93,probably_damaging,0.961,deleterious,0,4.2959,22.5,P08514_V934F,V,F,934,VF,V934F,Hydrophobic,Hydrophobic,5.61,3.32,-2.29,117,165,48,140,189.9,49.9,50,-1.343,-3.741,2.398,,,,,,0.694,,31.47,0.00235639,0,0.0803577,0.837658
3807,P02452,G,S,1040,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.08,,,,,,,,,58,727,ENSG00000108821,ENST00000225964,CCDS11561.1,COL1A1,0.71,,,deleterious,0.01,4.16262,21.5,P02452_G1040S,G,S,1040,GS,G1040S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.657,-3.119,2.462,,,,,0,,,,0.000717223,0,0.0244588,0.71441
3948,P51570,V,M,62,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.21,,,,,,,,,157,7097,ENSG00000108479,ENST00000437911,,GALK1,0.15,probably_damaging,0.965,deleterious,0.02,4.46807,23.9,P51570_V62M,V,M,62,VM,V62M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.236,-3.84,2.604,,E,B,0.11,-0.72,4.513,,90.56,0.00379027,0,0.129256,0.725178
3949,P51570,P,T,58,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.21,,,,,,,,,145,7109,ENSG00000108479,ENST00000437911,,GALK1,0.14,probably_damaging,0.985,deleterious,0,3.54401,18.08,P51570_P58T,P,T,58,PT,P58T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,,,,,,,,,,,,0.00376691,0,0.12846,0.970517
3978,P51688,A,T,257,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.15,0,0,0.001,,,,,,908,7,ENSG00000181523,ENST00000570923,,SGSH,0.94,,,,,2.90247,15.67,P51688_A257T,A,T,257,AT,A257T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,,,,,,,,,,,,0.00186275,0,0.0635235,0.975991
4148,Q9Y6Q6,R,C,129,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.24,,,,,,,,,29177,33175,ENSG00000141655,ENST00000269485,CCDS11980.1,TNFRSF11A,0.21,probably_damaging,0.994,deleterious,0,3.95867,20.3,Q9Y6Q6_R129C,R,C,129,RC,R129C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.101,-4.943,3.842,0.675,E,B,1.66,0.3,,,,0.000666631,0,0.0227335,0.753478
4228,Q8IY17,R,H,890,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.21,,,,,,,,,20291,6727,ENSG00000032444,ENST00000450331,CCDS32891.1,PNPLA6,0.67,benign,0.06,tolerated,0.14,2.95236,15.84,Q8IY17_R890H,R,H,890,RH,R890H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-1.398,-3.966,2.568,,,,,,,,,0.000530216,0,0.0180815,0.836539
4373,O43291,M,L,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.72,0.21,,,,,,,,,435,27721,ENSG00000167642,ENST00000454580,CCDS54261.1,SPINT2,0.01,benign,0.083,deleterious,0,1.99663,12.63,O43291_M1L,M,L,1,ML,M1L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-1.644,-2.298,0.654,,,,,,12.17,,72.62,0.000993727,0,0.0338881,1.04812
4424,P02649,R,S,154,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.23,,,,,,,,,2396,189,ENSG00000130203,ENST00000446996,,APOE,0.71,probably_damaging,0.989,deleterious,0,3.58852,18.28,P02649_R154S,R,S,154,RS,R154S,PositiveCharge,Polar,6.34,5.68,-0.66,174,105,-69,173.4,89,-84.4,110,-1.141,-3.34,2.199,0.051,H,A,0.93,-0.03,6.299,,74.76,0.00409488,0,0.139644,0.675977
4430,P02649,S,R,314,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.17,,,,,,,,,2876,158,ENSG00000130203,ENST00000252486,CCDS12647.1,APOE,0.99,benign,0.123,deleterious,0.02,1.99904,12.64,P02649_S314R,S,R,314,SR,S314R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.954,-3.848,1.894,0.536,.,a,0.93,-0.94,7.845,,93.38,0.0948215,0.333333,3.23361,0.866459
4455,Q9H9S5,P,T,316,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.28,,,,,,,,,10350,2180,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.64,probably_damaging,0.997,deleterious,0,2.87014,15.56,Q9H9S5_P316T,P,T,316,PT,P316T,Special,Polar,6.3,5.6,-0.7,115,119,4,112.7,116.1,3.4,38,-1.147,-3.292,2.145,,,,,,3.219,,93.33,0.00146617,0,0.0499995,0.897778
4534,P04198,W,X,77,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.72,0.2,,,,,,,,,46,2110,ENSG00000134323,ENST00000281043,CCDS1687.1,MYCN,0.17,,,,,5.76745,36,P04198_W77X,W,X,77,WX,W77X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
4554,P01189,K,X,51,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.72,0.2,,,,,,,,,6838,588,ENSG00000115138,ENST00000264708,CCDS1717.1,POMC,0.19,,,,,5.39723,34,P01189_K51X,K,X,51,KX,K51X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00393601,0,0.134226,0.955443
4660,O95343,W,C,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.28,,,,,,,,,570,1859,ENSG00000138083,ENST00000260653,CCDS1821.1,SIX3,0.34,possibly_damaging,0.576,tolerated,0.08,1.82765,12.07,O95343_W113C,W,C,113,WC,W113C,Hydrophobic,Special,5.89,5.07,-0.82,204,121,-83,227.8,108.5,-119.3,215,-1.692,-4.723,3.031,,,,,,0.579,,64.16,,,,0.729689
4803,P04921,L,F,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.19,,,,,,,,,114,1890,ENSG00000136732,ENST00000259254,CCDS2136.1,GYPC,0.11,benign,0.302,tolerated,0.1,1.67802,11.57,P04921_L14F,L,F,14,LF,L14F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-2.136,-4.035,1.899,,,,,,1.498,,60.94,,,,0.861907
5214,P21549,,,,Transcript,CANONICAL_SPLICE,6,splice_acceptor,pathogenic,0.72,0.13,,,,,,,,,623,1585,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,,,,,,3.40322,17.49,P21549_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
5230,P21549,R,Q,360,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.16,,,,,,,,,1808,400,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.92,probably_damaging,1,deleterious,0,3.91579,19.92,P21549_R360Q,R,Q,360,RQ,R360Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-0.733,-3.628,2.895,0.034,E,B,0.56,-0.97,2.307,,57.65,0.00459445,0,0.15668,0.5213
5265,Q9BZ23,Y,X,190,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.72,0.29,,,,,,,,,281,1431,ENSG00000125779,ENST00000316562,CCDS13071.2,PANK2,0.33,,,,,4.91248,28.3,Q9BZ23_Y190X,Y,X,190,YX,Y190X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000764267,0,0.0260631,0.970188
5308,Q9NZR4,A,S,256,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.2,0.001,0.002,0,0.001,,,0.01,,273,817,ENSG00000100987,ENST00000429762,,VSX1,0.85,benign,0.256,deleterious,0.03,2.44207,14.12,Q9NZR4_A256S,A,S,256,AS,A256S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.413,-3.012,1.599,,,,,,7.591,,82.19,0.0068461,0,0.233466,0.910301
5639,P56693,Y,X,207,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.72,0.13,,,,,,,,,5472,20,ENSG00000100146,ENST00000427770,,SOX10,0.97,,,,,4.63584,25.4,P56693_Y207X,Y,X,207,YX,Y207X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00354271,0.003861,0.120814,0.945391
5645,O60733,R,Q,687,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.16,,,,,,,,,298,686,ENSG00000184381,ENST00000335539,CCDS33645.1,PLA2G6,0.91,possibly_damaging,0.453,tolerated,0.13,3.78959,19.24,O60733_R687Q,R,Q,687,RQ,R687Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,0.0014964,0,0.0510303,0.917458
5704,P19971,E,A,289,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.2,,,,,,,,,199,853,ENSG00000025708,ENST00000252029,CCDS14096.1,TYMP,0.6,probably_damaging,1,deleterious,0,5.36781,34,P19971_E289A,E,A,289,EA,E289A,negativeCharge,Hydrophobic,3.22,6,2.78,147,89,-58,138.4,88.6,-49.8,107,-1.225,-3.052,1.827,0.053,H,A,1.04,-0.72,1.063,,19.09,0.00132791,0,0.0452844,0.664591
5705,P19971,L,P,285,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.19,,,,,,,,,211,865,ENSG00000025708,ENST00000252029,CCDS14096.1,TYMP,0.59,probably_damaging,0.999,deleterious,0,4.52914,24.4,P19971_L285P,L,P,285,LP,L285P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.111,-3.894,2.783,0.066,H,A,1.07,-0.75,0.472,,19.09,0.00361858,0,0.123401,0.559858
5735,P15289,D,N,169,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.11,,,,,,,,,1149,416,ENSG00000100299,ENST00000547805,,ARSA,0.33,benign,0.007,tolerated,0.31,0.397478,6.159,P15289_D169N,D,N,169,DN,D169N,negativeCharge,Polar,5.05,5.47,0.42,133,132,-1,111.1,114.1,3,23,-2.42,-2.763,0.343,0.341,T,B,0.14,0.87,19.491,19.491,86.79,0.00369613,0.00591716,0.126046,0.992163
5736,P15289,P,R,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.11,,,,,,,,,1144,421,ENSG00000100299,ENST00000547805,,ARSA,0.33,benign,0.008,tolerated,0.25,-0.432779,1.987,P15289_P167R,P,R,167,PR,P167R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-2.122,-2.415,0.293,0.632,E,B,0.68,0.14,29.383,29.383,85.6,0.00361755,0.00294118,0.123366,0.945039
5741,P15289,G,D,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.15,,,,,,,,,827,738,ENSG00000100299,ENST00000547805,,ARSA,0.2,probably_damaging,1,deleterious,0,5.09557,31,P15289_G99D,G,D,99,GD,G99D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.809,-3.286,2.477,,B,b,0.46,-0.3,,,,0.00112397,0,0.0383297,0.579547
5790,P40337,R,P,64,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.28,,,,,,,,,250,791,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.37,probably_damaging,0.997,deleterious,0,4.33579,22.8,P40337_R64P,R,P,64,RP,R64P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.184,-3.697,2.513,0.385,.,b,0.68,0.3,,,,0.0115687,0,0.394518,0.685283
5791,P40337,P,S,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.3,0,0,0.001,,,,,,300,841,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.47,possibly_damaging,0.755,deleterious,0.03,4.93304,28.6,P40337_P81S,P,S,81,PS,P81S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.528,-3.118,1.59,0.421,S,A,0.25,-0.68,4.293,,57.75,0.0104378,0,0.355949,0.785014
5792,P40337,V,L,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.3,,,,,,,,,309,850,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.49,possibly_damaging,0.618,deleterious,0.01,5.00746,29.5,P40337_V84L,V,L,84,VL,V84L,Hydrophobic,Hydrophobic,5.61,9.71,4.1,117,131,14,140,166.7,26.7,32,-1.453,-1.954,0.501,,E,B,0.11,-0.91,23.624,23.624,71.83,0.0099094,0,0.337931,0.893893
5890,O75718,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.72,0.26,,,,,,,,,26,29079,ENSG00000170275,ENST00000449224,,CRTAP,0,,,deleterious,0,1.93406,12.42,O75718_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.998,-2.792,0.794,,,,,,,,,,,,0.900102
6219,P58012,Q,X,219,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.72,0.17,,,,,,,,,1073,1844,ENSG00000183770,ENST00000330315,CCDS3105.1,FOXL2,0.58,,,,,8.29392,40,P58012_Q219X,Q,X,219,QX,Q219X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00048937,0,0.0166885,0.98231
6220,P58012,Q,X,196,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.72,0.2,,,,,,,,,1004,1913,ENSG00000183770,ENST00000330315,CCDS3105.1,FOXL2,0.52,,,,,8.0226,40,P58012_Q196X,Q,X,196,QX,Q196X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000897683,0,0.0306128,0.98231
6316,Q13144,A,D,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.21,,,,,,,,,32,1548,ENSG00000145191,ENST00000273783,CCDS3252.1,EIF2B5,0.02,,,deleterious,0.01,2.09876,12.97,Q13144_A16D,A,D,16,AD,A16D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,-1.738,-3.645,1.907,,,,,,2.746,,93.34,0.000146763,0,0.00500493,0.943767
6454,P28360,P,Q,153,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.17,,,,,,,,,691,3580,ENSG00000163132,ENST00000382723,CCDS3378.2,MSX1,0.5,possibly_damaging,0.873,tolerated,0.05,4.97159,29,P28360_P153Q,P,Q,153,PQ,P153Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,,,,,,,,,,,,0.0031043,0,0.105863,0.96769
6648,Q6ZWL3,L,V,22,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.17,0.464,0.413,0.489,0.44,0.3,0.47,0.43,0.54,367,18915,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.04,benign,0.218,tolerated,1,-1.92289,0.008,Q6ZWL3_L22V,L,V,22,LV,L22V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-2.107,-1.761,-0.346,,,,,,23.179,23.179,86.1,0.000190992,0,0.0065132,1.03356
6650,Q6ZWL3,G,S,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.24,,,,,,,,,484,18798,ENSG00000145476,ENST00000378802,CCDS34119.1,CYP4V2,0.12,probably_damaging,0.97,deleterious,0,5.84889,36,Q6ZWL3_G61S,G,S,61,GS,G61S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.999,-3.031,2.032,,,,,,4.258,,78.29,0.00185194,0.00215517,0.0631548,0.891939
6716,O14746,V,M,144,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.23,,,,,,,,,534,103,ENSG00000164362,ENST00000296820,,TERT,0.18,probably_damaging,0.981,deleterious,0,2.12558,13.06,O14746_V144M,V,M,144,VM,V144M,Hydrophobic,Hydrophobic,5.61,5.74,0.13,117,149,32,140,162.9,22.9,21,-1.7,-2.771,1.071,,,,,,3.992,3.992,79.24,0.000180337,0,0.00614986,0.983624
7013,P00748,T,R,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.17,,,,,,,,,176,739,ENSG00000131187,ENST00000253496,CCDS34302.1,F12,0.53,possibly_damaging,0.758,tolerated,0.11,3.23149,16.83,P00748_T328R,T,R,328,TR,T328R,Polar,PositiveCharge,5.6,6.34,0.74,119,174,55,116.1,173.4,57.3,71,-1.46,-3.69,2.23,,,,,,1.819,,73.17,0.00125022,0,0.0426349,0.86934
7014,P00748,T,K,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.17,,,,,,,,,176,739,ENSG00000131187,ENST00000253496,CCDS34302.1,F12,0.53,possibly_damaging,0.508,tolerated,0.11,3.20858,16.75,P00748_T328K,T,K,328,TK,T328K,Polar,PositiveCharge,5.6,9.74,4.14,119,146,27,116.1,168.6,52.5,78,-1.46,-3.345,1.885,,,,,,2.995,,73.17,0.00125022,0,0.0426349,0.952649
7096,Q6VVB1,P,A,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.17,,,,,,,,,219,1915,ENSG00000187566,ENST00000340650,CCDS4542.1,NHLRC1,0.17,probably_damaging,0.998,deleterious,0.02,4.13669,21.4,Q6VVB1_P69A,P,A,69,PA,P69A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-1.021,-2.947,1.926,,,,,,5.012,,68.61,0.000380204,0,0.0129658,0.954866
7158,Q14749,L,P,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.2,,,,,,,,,158,2965,ENSG00000124713,ENST00000372808,CCDS4876.1,GNMT,0.17,possibly_damaging,0.661,deleterious,0.01,4.29526,22.5,Q14749_L50P,L,P,50,LP,L50P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.545,-3.802,2.257,0.088,H,A,1.07,-0.63,1.71,,78.98,0.00531844,0,0.18137,0.649188
7390,P10071,A,P,934,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.19,,,,,,,,,186182,2191,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.59,probably_damaging,0.999,deleterious,0.01,4.82433,27.4,P10071_A934P,A,P,934,AP,A934P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-0.8,-3.743,2.943,,,,,,0.462,,32.97,0.00056912,0,0.0194082,0.85122
7391,P10071,Y,X,933,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.72,0.19,,,,,,,,,186181,2192,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.59,,,,,6.91558,38,P10071_Y933X,Y,X,933,YX,Y933X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.000436888,0,0.0148988,0.970188
7412,P35557,A,V,361,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.34,,,,,,,,,513,28,ENSG00000106633,ENST00000437084,,GCK,0.81,possibly_damaging,0.756,deleterious,0,6.19517,37,P35557_A361V,A,V,361,AV,A361V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00308563,0,0.105226,0.966032
7736,Q12809,T,P,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.3,,,,,,,,,3102,25391,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.06,probably_damaging,0.987,deleterious,0,3.96199,20.3,Q12809_T65P,T,P,65,TP,T65P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.297,-3.495,2.198,0.345,T,A,0.3,0,1.711,,58.76,0.000395954,0,0.0135028,0.773622
7748,Q15465,V,E,224,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.23,,,,,,,,,5455,3568,ENSG00000164690,ENST00000297261,CCDS5942.1,SHH,0.48,,,deleterious,0,3.56887,18.19,Q15465_V224E,V,E,224,VE,V224E,Hydrophobic,negativeCharge,5.61,3.22,-2.39,117,147,30,140,138.4,-1.6,121,-1.201,-3.442,2.241,,,,,,,,,0.00211867,0,0.0722509,0.809489
8180,O00358,A,V,65,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.3,,,,,,,,,854,2597,ENSG00000178919,ENST00000375123,CCDS35078.1,FOXE1,0.17,benign,0.023,deleterious,0,3.70241,18.81,O00358_A65V,A,V,65,AV,A65V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.306,-3.112,1.806,,,,,,5.619,,78.55,0.000673247,0,0.0229591,0.95777
8326,Q9UBR4,A,V,215,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.2,,,,,,,,,4361,2519,ENSG00000107187,ENST00000371746,CCDS6995.1,LHX3,0.53,probably_damaging,0.968,deleterious,0,4.82772,27.4,Q9UBR4_A215V,A,V,215,AV,A215V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,,,,0.954618
8453,Q96QS3,G,S,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.17,,,,,,,,,2810,9445,ENSG00000004848,ENST00000379044,CCDS14215.1,ARX,0.51,possibly_damaging,0.846,tolerated,0.07,2.52687,14.41,Q96QS3_G286S,G,S,286,GS,G286S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.926,-3.16,1.234,,,,,,3.718,,68.33,0.00116778,0,0.0398236,0.963497
8828,Q9GZU5,R,P,94,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.25,,,,,,,,,1553,25,ENSG00000188937,ENST00000378220,CCDS14256.1,NYX,0.2,possibly_damaging,0.735,tolerated,0.16,3.10681,16.38,Q9GZU5_R94P,R,P,94,RP,R94P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.955,-3.804,1.849,,,,,,1.81,,62.16,0.000984027,0,0.0335574,0.909017
9703,P30518,I,K,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.13,,,,,,,,,529,1139,ENSG00000126895,ENST00000358927,CCDS14735.1,AVPR2,0.12,benign,0.08,deleterious,0,1.49077,10.93,P30518_I46K,I,K,46,IK,I46K,Hydrophobic,PositiveCharge,6.02,9.74,3.72,131,146,15,166.7,168.6,1.9,102,-2.152,-3.561,1.409,,,,,,4.052,,87.87,0.0031823,0,0.108523,0.958713
9775,O60832,A,V,2,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.72,0.24,,,,,,,,,57,2386,ENSG00000130826,ENST00000369550,CCDS14761.1,DKC1,0,benign,0.009,deleterious,0,2.837,15.45,O60832_A2V,A,V,2,AV,A2V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.307,-2.76,1.453,,,,,,,,,0.000769744,0,0.0262499,0.922772
103,Q8TD43,Q,R,500,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.73,0.16,0.001,0,0.001,0.001,,,,0.003,38948,15045,ENSG00000130529,ENST00000355712,,TRPM4,0.58,benign,0.059,tolerated,0.17,0.622401,7.349,Q8TD43_Q500R,Q,R,500,QR,Q500R,Polar,PositiveCharge,6.24,6.34,0.1,146,174,28,143.8,173.4,29.6,43,,,,,,,,,,,,0.00113394,0,0.0448451,0.92663
3,O60683,R,X,125,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.73,0.12,0,0,0,,,,,,1326,44,ENSG00000157911,ENST00000447513,CCDS44045.1,PEX10,0.38,,,,,1.24789,10.06,O60683_R125X,R,X,125,RX,R125X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00342287,0,0.116727,0.951177
1664,Q9ULV1,P,S,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.23,0.012,0.003,0.016,0.01,,0.02,0.01,0.01,403,9310,ENSG00000174804,ENST00000531380,CCDS8279.1,FZD4,0.06,benign,0,tolerated,0.28,1.54707,11.13,Q9ULV1_P33S,P,S,33,PS,P33S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-2.324,-2.509,0.185,,,,,,15.644,15.644,91.81,0.000111062,0,0.00378745,1.0216
1776,P02647,L,S,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.3,,,,,,,,,99,268,ENSG00000118137,ENST00000375329,,APOA1,0.72,probably_damaging,0.953,deleterious,0,3.31853,17.16,P02647_L176S,L,S,176,LS,L176S,Hydrophobic,Polar,9.71,5.68,-4.03,131,105,-26,166.7,89,-77.7,145,,,,,,,,,,,,0.00765598,0,0.261085,0.886707
1777,P02647,R,P,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.32,,,,,,,,,96,271,ENSG00000118137,ENST00000375329,,APOA1,0.71,possibly_damaging,0.892,deleterious,0.02,3.28909,17.05,P02647_R175P,R,P,175,RP,R175P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.772,-3.043,1.271,0.056,H,A,0.68,0,23.162,23.162,75.28,0.00695257,0,0.237097,0.779683
1778,P02647,R,C,175,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.32,,,,,,,,,95,272,ENSG00000118137,ENST00000375329,,APOA1,0.71,probably_damaging,0.939,deleterious,0,3.14888,16.53,P02647_R175C,R,C,175,RC,R175C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.772,-5.291,3.519,0.056,H,A,1.66,0,1.372,,75.28,0.00695257,0,0.237097,0.626553
1779,P02647,P,R,167,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.29,,,,,,,,,72,295,ENSG00000118137,ENST00000375329,,APOA1,0.68,probably_damaging,0.993,deleterious,0,3.52948,18.02,P02647_P167R,P,R,167,PR,P167R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.206,-3.997,2.791,0.361,I,A,0.68,0,3.159,,79.78,0.0041928,0,0.142983,0.770511
2163,O15528,G,E,125,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.19,,,,,,,,,334,549,ENSG00000111012,ENST00000228606,CCDS8954.1,CYP27B1,0.25,probably_damaging,1,deleterious,0,4.23484,22,O15528_G125E,G,E,125,GE,G125E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.809,-3.482,2.673,,,,,,,,,0.000497618,0,0.0169698,0.803652
2542,P54845,L,P,160,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.3,,,,,,,,,458,463,ENSG00000129535,ENST00000561028,CCDS9608.1,NRL,0.68,probably_damaging,0.98,deleterious,0,5.48874,35,P54845_L160P,L,P,160,LP,L160P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,,,,,,,,,0.00374458,0,0.127698,0.77051
2582,P25963,E,X,14,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.73,0.24,,,,,,,,,46,857,ENSG00000100906,ENST00000553342,,NFKBIA,0.2,,,,,3.95556,20.2,P25963_E14X,E,X,14,EX,E14X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00147321,0,0.0502394,0.902682
2640,P30793,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.73,0.25,,,,,,,,,147,59665,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0,benign,0.106,deleterious,0,2.6396,14.79,P30793_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-2.238,-2.562,0.324,,,,,,22.7,22.7,86.4,0.0024638,0.0120482,0.0840207,1.01998
2987,Q0VG99,E,X,103,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.73,0.26,,,,,,,,,306,2011,ENSG00000188095,ENST00000341735,CCDS42078.1,MESP2,0.26,,,,,2.48934,14.28,Q0VG99_E103X,E,X,103,EX,E103X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00245563,0,0.0837421,0.961863
4187,P03971,R,X,191,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.73,0.16,,,,,,,,,28,52,ENSG00000104899,ENST00000221496,CCDS12085.1,AMH,0.34,,,,,4.90865,28.3,P03971_R191X,R,X,191,RX,R191X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00213874,0,0.0729354,0.959768
4417,P50895,R,X,231,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.73,0.19,,,,,,,,,4446,6827,ENSG00000187244,ENST00000391955,CCDS42575.1,BCAM,0.39,,,,,4.17628,21.6,P50895_R231X,R,X,231,RX,R231X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00145221,0,0.0495232,0.900587
4425,P02649,R,C,163,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.23,0.005,0.014,0,0.01,,0.01,0.04,,2423,162,ENSG00000130203,ENST00000446996,,APOE,0.75,probably_damaging,0.994,deleterious,0,3.92404,19.96,P02649_R163C,R,C,163,RC,R163C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.304,-5.148,3.844,0.068,H,A,1.66,0.21,0.647,,40.06,0.00461256,0,0.157298,0.53489
4449,Q9H9S5,R,W,134,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.21,,,,,,,,,9804,2726,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.27,possibly_damaging,0.753,deleterious,0.01,1.33828,10.39,Q9H9S5_R134W,R,W,134,RW,R134W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.659,-5.188,3.529,,,,,,0.3,,64.04,0.00125644,0,0.0428474,0.830364
4450,Q9H9S5,S,R,221,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.23,,,,,,,,,10067,2463,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.45,possibly_damaging,0.892,deleterious,0.01,1.59493,11.29,Q9H9S5_S221R,S,R,221,SR,S221R,Polar,PositiveCharge,5.68,6.34,0.66,105,174,69,89,173.4,84.4,110,-1.701,-3.679,1.978,,,,,,2.177,,93.74,0.00297528,0,0.101463,0.880164
4802,P04921,N,S,8,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.19,,,,,,,,,97,1907,ENSG00000136732,ENST00000259254,CCDS2136.1,GYPC,0.06,benign,0,deleterious,0.01,2.07075,12.88,P04921_N8S,N,S,8,NS,N8S,Polar,Polar,5.47,5.68,0.21,132,105,-27,114.1,89,-25.1,46,-1.797,-3.193,1.396,,,,,,3.281,,59.38,,,,0.877622
5229,P21549,L,P,359,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.16,,,,,,,,,1805,403,ENSG00000172482,ENST00000307503,CCDS2543.1,AGXT,0.92,probably_damaging,1,deleterious,0,2.95587,15.85,P21549_L359P,L,P,359,LP,L359P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.776,-4.522,2.746,0.007,E,B,1.07,-0.8,1.531,,58.16,0.00650599,0,0.221868,0.5042
5248,P01185,V,A,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.2,,,,,,,,,1626,543,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.41,benign,0.35,deleterious,0,2.74893,15.15,P01185_V67A,V,A,67,VA,V67A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.829,-3.051,1.222,,,,,,4.647,,86.59,0.0113059,0,0.385554,0.915536
5506,Q01196,H,N,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.21,,,,,,,,,243,106,ENSG00000159216,ENST00000486278,,RUNX1,0.32,possibly_damaging,0.77,deleterious,0,5.61742,36,Q01196_H61N,H,N,61,HN,H61N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,,,,,,,,,,,,0.00131423,0,0.0448181,0.915662
5563,O95954,R,C,135,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.19,,,,,,,,,331,703,ENSG00000160282,ENST00000397746,CCDS13731.1,FTCD,0.25,probably_damaging,1,deleterious,0,2.45245,14.16,O95954_R135C,R,C,135,RC,R135C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,,,,0.719329
5789,P40337,L,P,63,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.29,,,,,,,,,247,788,ENSG00000134086,ENST00000345392,CCDS2598.1,VHL,0.37,probably_damaging,0.998,deleterious,0,3.9565,20.2,P40337_L63P,L,P,63,LP,L63P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.039,-3.922,2.883,0.073,S,B,1.07,0.13,,,,0.0118671,0,0.404694,0.594905
5973,Q02388,G,E,2037,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.05,,,,,,,,,9112,11336,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.69,,,,,3.1371,16.49,Q02388_G2037E,G,E,2037,GE,G2037E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.809,-3.482,2.673,,,,,,,,,,,,0.767808
5975,Q02388,G,E,2015,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.11,,,,,,,,,9046,11402,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.68,,,,,3.36337,17.33,Q02388_G2015E,G,E,2015,GE,G2015E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.809,-3.482,2.673,,,,,,,,,,,,0.767808
6869,O76082,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.73,0.24,,,,,,,,,2,5753,ENSG00000197375,ENST00000435065,,SLC22A5,0,benign,0.344,deleterious,0.01,4.24163,22.1,O76082_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.515,-2.121,0.606,,,,,,11.943,11.943,43.99,0.00243178,0.00179856,0.0829287,0.998888
6994,P52952,R,C,216,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.21,,,,,,,,,2309,3,ENSG00000183072,ENST00000329198,CCDS4387.1,NKX2-5,0.67,possibly_damaging,0.894,deleterious,0,4.2304,22,P52952_R216C,R,C,216,RC,R216C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.735,-4.864,3.129,,,,,,0.59,,62.96,0.00298132,0,0.101669,0.803564
7084,P05549,E,K,99,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.25,,,,,,,,,47,74,ENSG00000137203,ENST00000498450,,TFAP2A,0.73,probably_damaging,1,deleterious,0,5.88195,36,P05549_E99K,E,K,99,EK,E99K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,,,,,,,,,,,,0.00163309,0,0.0556916,0.912331
7735,Q12809,R,G,100,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.26,,,,,,,,,3207,25286,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.09,possibly_damaging,0.74,deleterious,0.01,3.706,18.82,Q12809_R100G,R,G,100,RG,R100G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.686,-3.091,1.405,0.256,.,B,0.91,0,3.971,,64.71,0.000290526,0,0.00990752,0.833879
7742,Q15465,P,A,424,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.73,0.21,,,,,,,,,6054,2969,ENSG00000164690,ENST00000297261,CCDS5942.1,SHH,0.92,,,tolerated,0.09,-0.778307,0.736,Q15465_P424A,P,A,424,PA,P424A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,-2.117,-2.912,0.795,,,,,,6.858,,91.13,0.00390626,0,0.133212,0.98807
9020,Q92838,Q,X,23,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.73,0.16,,,,,,,,,258,53886,ENSG00000158813,ENST00000374553,CCDS43966.1,EDA,0.06,,,,,6.04355,37,Q92838_Q23X,Q,X,23,QX,Q23X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000366079,0,0.0124841,0.98231
91,Q92481,D,E,148,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.74,0.23,,,,,,,,,1984,97,ENSG00000008196,ENST00000393655,CCDS4934.2,TFAP2B,0.32,probably_damaging,0.97,tolerated,0.42,2.97343,15.91,Q92481_D148E,D,E,148,DE,D148E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-1.458,-1.603,0.145,,,,,,21.182,21.182,76.09,0.0026624,0.00320513,0.105292,1.01457
199,P36021,S,P,107,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.74,0.13,0.462,0.624,0.37,0.63,0.98,0.35,0.72,0.45,931,112184,ENSG00000147100,ENST00000276033,CCDS14426.1,SLC16A2,0.17,benign,0.107,tolerated,1,-3.54758,0.001,P36021_S107P,S,P,107,SP,S107P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,,,,,,,,,,,,,,,0.953006
1,O00468,G,R,1709,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.17,,,,,,,,,19,3376,ENSG00000188157,ENST00000379370,CCDS30551.1,AGRN,0.84,probably_damaging,0.991,deleterious,0,3.50063,17.89,O00468_G1709R,G,R,1709,GR,G1709R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.235,-2.658,1.423,0.287,.,g,0.91,-0.41,4.658,2.963,37.06,0.000540662,0,0.0184377,0.786113
609,Q9NP85,P,L,20,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.2,0.003,0.005,0.002,0.001,0.002,0.003,0.002,,128,544,ENSG00000116218,ENST00000367616,,NPHS2,0.06,,,deleterious,0.02,2.26873,13.54,Q9NP85_P20L,P,L,20,PL,P20L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.903,-3.319,1.416,,,,,,4.601,,89.82,0.00185162,0.00275482,0.063144,0.957744
881,Q96EK5,E,X,84,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.21,,,,,,,,,351,27901,ENSG00000198954,ENST00000361983,CCDS7284.1,KIAA1279,0.14,,,,,4.84199,27.6,Q96EK5_E84X,E,X,84,EX,E84X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,,,,0.934266
882,Q96EK5,R,X,90,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.21,,,,,,,,,369,27883,ENSG00000198954,ENST00000361983,CCDS7284.1,KIAA1279,0.14,,,,,4.95366,28.8,Q96EK5_R90X,R,X,90,RX,R90X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
927,Q7LGC8,L,P,286,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.21,,,,,,,,,43523,5677,ENSG00000122863,ENST00000373115,CCDS7312.1,CHST3,0.6,probably_damaging,1,deleterious,0,4.36649,23,Q7LGC8_L286P,L,P,286,LP,L286P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.165,-3.915,2.75,,,,,,0.677,,39.67,0.00154419,0,0.0526602,0.806435
1072,P08588,S,G,49,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.28,0.137,0.194,0.108,0.17,0.14,0.24,0.24,0.12,230,2632,ENSG00000043591,ENST00000369295,CCDS7586.1,ADRB1,0.1,benign,0,tolerated,1,-2.68969,0,P08588_S49G,S,G,49,SG,S49G,Polar,Special,5.68,3.29,-2.39,105,75,-30,89,60.1,-28.9,56,-2.418,-1.819,-0.599,,,,,,45.962,45.962,90.15,0.000150084,0,0.00511817,1.03382
1195,P49918,S,X,236,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.29,,,,,,,,,49,1075,ENSG00000129757,ENST00000440480,CCDS44519.1,CDKN1C,0.77,,,,,8.36463,40,P49918_S236X,S,X,236,SX,S236X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00455192,0,0.15523,0.937138
1473,O00255,R,X,465,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.2,,,,,,,,,1204,338,ENSG00000133895,ENST00000443283,CCDS8083.1,MEN1,0.76,,,,,5.85876,36,O00255_R465X,R,X,465,RX,R465X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.00253372,0,0.0864051,0.959768
2077,P41181,E,K,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.23,,,,,,,,,562,854,ENSG00000167580,ENST00000199280,CCDS8792.1,AQP2,0.95,possibly_damaging,0.903,deleterious,0.01,5.68124,36,P41181_E258K,E,K,258,EK,E258K,negativeCharge,PositiveCharge,3.22,9.74,6.52,147,146,-1,138.4,168.6,30.2,56,-1.005,-2.863,1.858,0.947,S,l,1.3,2.57,,,,0.0137674,0,0.469496,0.882946
2378,Q9UEF7,H,R,193,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.19,,,,,,,,,585,44510,ENSG00000133116,ENST00000380099,CCDS9347.1,KL,0.19,probably_damaging,0.998,deleterious,0,4.06882,20.9,Q9UEF7_H193R,H,R,193,HR,H193R,PositiveCharge,PositiveCharge,7.59,6.34,-1.25,155,174,19,153.2,173.4,20.2,29,-1.124,-3.339,2.215,,,,,,,,,0.0004,0,0.0136408,0.846536
2990,Q0VG99,E,X,234,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.19,,,,,,,,,699,1618,ENSG00000188095,ENST00000341735,CCDS42078.1,MESP2,0.59,,,,,2.27625,13.57,Q0VG99_E234X,E,X,234,EX,E234X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00193585,0,0.0660165,0.96137
3670,O43612,L,R,16,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.21,,,,,,,,,950,443,ENSG00000161610,ENST00000293330,CCDS11421.1,HCRT,0.12,possibly_damaging,0.796,deleterious,0.03,4.59783,25.1,O43612_L16R,L,R,16,LR,L16R,Hydrophobic,PositiveCharge,9.71,6.34,-3.37,131,174,43,166.7,173.4,6.7,102,-1.338,-3.874,2.536,,,,,,1.837,,84.73,0.00831261,0.00869565,0.283477,0.813844
3701,Q9BQB4,R,X,126,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.28,,,,,,,,,3181,1873,ENSG00000167941,ENST00000301691,CCDS11468.1,SOST,0.59,,,,,5.52114,35,Q9BQB4_R126X,R,X,126,RX,R126X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
3702,Q9BQB4,W,X,124,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.26,,,,,,,,,3177,1877,ENSG00000167941,ENST00000301691,CCDS11468.1,SOST,0.58,,,,,5.89638,36,Q9BQB4_W124X,W,X,124,WX,W124X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
3845,Q13253,Q,X,110,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.19,,,,,,,,,852,1040,ENSG00000183691,ENST00000332822,CCDS11589.1,NOG,0.47,,,,,8.10177,40,Q13253_Q110X,Q,X,110,QX,Q110X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00734683,0,0.250542,0.91659
3866,P22748,R,W,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.19,0,0,0,,,,,,133,9468,ENSG00000167434,ENST00000300900,CCDS11624.1,CA4,0.04,possibly_damaging,0.765,deleterious,0.02,2.3302,13.75,P22748_R14W,R,W,14,RW,R14W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,-1.982,-5.254,3.272,,,,,,0.441,,69.23,0.000487201,0,0.0166146,0.847898
4190,Q96IS3,R,Q,107,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.19,0,0,0,,,,,,1296,1799,ENSG00000173976,ENST00000555978,,RAX2,0.53,probably_damaging,0.912,deleterious,0,4.41385,23.4,Q96IS3_R107Q,R,Q,107,RQ,R107Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,,,,,,,,,,,,,,,0.953807
4265,O75792,G,S,37,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.21,,,,,,,,,168,6867,ENSG00000104889,ENST00000221486,CCDS12282.1,RNASEH2A,0.12,probably_damaging,0.994,deleterious,0.01,5.13931,32,O75792_G37S,G,S,37,GS,G37S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-1.074,-3.001,1.927,,,,,,3.619,,69.23,,,,0.900249
4320,O75462,K,X,368,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.28,,,,,,,,,12494,1130,ENSG00000006016,ENST00000392386,CCDS32962.1,CRLF1,0.87,,,,,7.76231,39,O75462_K368X,K,X,368,KX,K368X,PositiveCharge,Stop,9.74,5.71,-4.03,146,132.5,-13.5,168.6,141.9,-26.7,,,,,,,,,,,,,0.00421341,0,0.143686,0.954578
4394,Q9NYJ7,G,D,504,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.23,,,,,,,,,8539,1023,ENSG00000090932,ENST00000205143,CCDS12538.1,DLL3,0.82,benign,0.136,deleterious,0.04,1.91391,12.36,Q9NYJ7_G504D,G,D,504,GD,G504D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.503,-3.627,2.124,,,,,,3.971,,65.05,0.000584719,0,0.0199401,0.884801
4428,P02649,R,C,246,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.21,0,0,0,,,,,,2672,7,ENSG00000130203,ENST00000252486,CCDS12647.1,APOE,0.78,probably_damaging,0.964,deleterious,0.01,3.15916,16.57,P02649_R246C,R,C,246,RC,R246C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.733,-5.088,3.355,0.444,S,l,1.66,0,0.65,,73.82,0.00923818,0,0.315041,0.702971
4452,Q9H9S5,L,I,276,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.29,0,0,0.001,,,,,,10230,2300,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.56,benign,0.264,tolerated,0.07,2.44926,14.15,Q9H9S5_L276I,L,I,276,LI,L276I,Hydrophobic,Hydrophobic,9.71,6.02,-3.69,131,131,0,166.7,166.7,0,5,-1.292,-2.94,1.648,,,,,,1.543,,64.04,0.0023991,0,0.0818143,0.961313
4456,Q9H9S5,C,Y,318,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.29,,,,,,,,,10357,2173,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.64,probably_damaging,0.998,deleterious,0,2.77054,15.23,Q9H9S5_C318Y,C,Y,318,CY,C318Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.194,-3.98,2.786,,,,,,,,,0.00125838,0,0.0429133,0.703216
4484,Q7Z406,S,X,7,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.17,,,,,,,,,26,100158,ENSG00000105357,ENST00000425460,CCDS46151.1,MYH14,0,,,,,6.25182,37,Q7Z406_S7X,S,X,7,SX,S7X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
4553,P01189,E,X,105,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.25,,,,,,,,,7000,426,ENSG00000115138,ENST00000264708,CCDS1717.1,POMC,0.39,,,,,4.76544,26.7,P01189_E105X,E,X,105,EX,E105X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00375786,0,0.128151,0.953272
4632,Q16678,G,E,61,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.32,0,0,0,,,,,,442,248,ENSG00000138061,ENST00000407341,CCDS1793.1,CYP1B1,0.11,probably_damaging,1,deleterious,0,2.96372,15.88,Q16678_G61E,G,E,61,GE,G61E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,-0.763,-3.521,2.758,,,,,,,,,0.000708742,0,0.0241695,0.793437
5048,Q9GZT5,W,X,9,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.13,,,,,,,,,659,12910,ENSG00000135925,ENST00000258411,CCDS2426.1,WNT10A,0.02,,,,,8.45487,40,Q9GZT5_W9X,W,X,9,WX,W9X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.000341208,0,0.0116359,0.956807
5247,P01185,S,F,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.26,,,,,,,,,1686,483,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.53,probably_damaging,0.989,deleterious,0.01,4.39185,23.2,P01185_S87F,S,F,87,SF,S87F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.755,-4.032,2.277,,,,,,1.8,,67.68,0.00962432,0,0.328209,0.785194
5577,P13224,W,X,46,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.26,,,,,,,,,1035,237,ENSG00000203618,ENST00000366425,CCDS42980.1,GP1BB,0.22,,,,,6.2445,37,P13224_W46X,W,X,46,WX,W46X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00941452,0.00625,0.321055,0.883377
5972,Q02388,G,S,2040,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.05,,,,,,,,,9120,11328,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.69,,,,,3.69335,18.76,Q02388_G2040S,G,S,2040,GS,G2040S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,,,,,,,,,,,,0.787877
5974,Q02388,G,S,2031,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.08,,,,,,,,,9093,11355,ENSG00000114270,ENST00000328333,CCDS2773.1,COL7A1,0.69,,,,,3.39351,17.45,Q02388_G2031S,G,S,2031,GS,G2031S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.809,-2.978,2.169,,,,,,,,,,,,0.787877
6224,P58012,Q,X,53,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.28,,,,,,,,,575,2342,ENSG00000183770,ENST00000330315,CCDS3105.1,FOXL2,0.14,,,,,8.78631,41,P58012_Q53X,Q,X,53,QX,Q53X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00241886,0,0.082488,0.964034
6451,P28360,M,K,67,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.19,,,,,,,,,433,3838,ENSG00000163132,ENST00000382723,CCDS3378.2,MSX1,0.22,possibly_damaging,0.724,deleterious,0,5.16052,32,P28360_M67K,M,K,67,MK,M67K,Hydrophobic,PositiveCharge,5.74,9.74,4,149,146,-3,162.9,168.6,5.7,95,,,,,,,,,,,,0.00331424,0,0.113022,0.962349
6453,P28360,S,X,111,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.74,0.26,,,,,,,,,565,3706,ENSG00000163132,ENST00000382723,CCDS3378.2,MSX1,0.37,,,,,8.36965,40,P28360_S111X,S,X,111,SX,S111X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.00363666,0.00520833,0.124018,0.953542
6488,P09417,G,D,23,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.24,,,,,,,,,6,21946,ENSG00000151552,ENST00000281243,CCDS3421.1,QDPR,0.09,probably_damaging,1,deleterious,0,4.33025,22.7,P09417_G23D,G,D,23,GD,G23D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.921,-3.204,2.283,0.011,H,A,0.46,-0.71,,,,0.00130186,0,0.0443961,0.579671
7927,Q6KF10,L,P,289,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.23,0,0.001,0,,,,,,15728,2735,ENSG00000156466,ENST00000287020,CCDS34926.1,GDF6,0.64,probably_damaging,0.999,deleterious,0,3.54006,18.06,Q6KF10_L289P,L,P,289,LP,L289P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.419,-3.995,2.576,,,,,,1.024,,41.98,0.00202078,0,0.0689128,0.830718
8041,P42771,R,L,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.23,,,,,,,,,151,342,ENSG00000147889,ENST00000579755,CCDS6511.2,CDKN2A,0.87,,,tolerated,0.12,2.95305,15.84,P42771_R115L,R,L,115,RL,R115L,PositiveCharge,Hydrophobic,6.34,9.71,3.37,174,131,-43,173.4,166.7,-6.7,102,,,,,,,,,,,,0.00703709,0,0.239979,0.93646
9674,P48029,G,R,87,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.24,,,,,,,,,46,2049,ENSG00000130821,ENST00000253122,CCDS14726.1,SLC6A8,0.14,probably_damaging,0.985,deleterious,0,4.54717,24.6,P48029_G87R,G,R,87,GR,G87R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.861,-3.71,2.849,,,,,,,,,0.00017002,0,0.00579802,0.78896
9729,P51608,A,V,2,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.74,0.3,,,,,,,,,3,65233,ENSG00000169057,ENST00000453960,CCDS48193.1,MECP2,0,,,deleterious,0,2.92583,15.75,P51608_A2V,A,V,2,AV,A2V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,,,,,,,,,,,,0.00202781,0.0103306,0.0691526,0.973623
9774,#N/A,,,,RegulatoryFeature,REGULATORY,4,regulatory,pathogenic,0.74,0.25,,,,,,,,,29,2532,,ENSR00000661564,,,,,,,,1.03972,9.247,#N/A_NANANA,,,,NANA,NANANA,,,,,,,,,,,,,,,,,,,,,,,,,,,0.891672
18,Q9NYJ7,L,Q,142,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.75,0.21,0.058,0.053,0.061,0.04,0.002,0.06,0.04,0.07,3913,5649,ENSG00000090932,ENST00000205143,CCDS12538.1,DLL3,0.23,possibly_damaging,0.565,deleterious,0.04,2.34423,13.8,Q9NYJ7_L142Q,L,Q,142,LQ,L142Q,Hydrophobic,Polar,9.71,6.24,-3.47,131,146,15,166.7,143.8,-22.9,113,-1.939,-2.689,0.75,,,,,,6.82,6.82,47.25,0.00135861,0,0.05373,0.974573
1042,P55075,H,N,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.2,,,,,,,,,132,5445,ENSG00000107831,ENST00000344255,CCDS7517.1,FGF8,0.06,benign,0.225,deleterious,0,3.18534,16.66,P55075_H14N,H,N,14,HN,H14N,PositiveCharge,Polar,7.59,5.47,-2.12,155,132,-23,153.2,114.1,-39.1,68,-1.627,-2.905,1.278,,,,,,,,,0.00088964,0,0.0303386,0.923733
1177,P07101,C,F,328,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.23,,,,,,,,,231,351,ENSG00000180176,ENST00000352909,CCDS7730.1,TH,0.66,probably_damaging,0.992,deleterious,0,3.62564,18.45,P07101_C328F,C,F,328,CF,C328F,Special,Hydrophobic,5.07,3.32,-1.75,121,165,44,108.5,189.9,81.4,205,,,,,,,,,,,,0.000369422,0,0.0125981,0.968803
1179,P07101,T,M,283,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.21,,,,,,,,,13,133,ENSG00000180176,ENST00000352909,CCDS7730.1,TH,0.57,probably_damaging,0.997,deleterious,0,3.71336,18.86,P07101_T283M,T,M,283,TM,T283M,Polar,Hydrophobic,5.6,5.74,0.14,119,149,30,116.1,162.9,46.8,81,,,,,,,,,,,,0.00171072,0,0.0583392,0.926249
1589,P11487,G,C,66,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.25,,,,,,,,,287,8514,ENSG00000186895,ENST00000334134,CCDS8195.1,FGF3,0.28,probably_damaging,1,deleterious,0,3.90332,19.85,P11487_G66C,G,C,66,GC,G66C,Special,Special,3.29,5.07,1.78,75,121,46,60.1,108.5,48.4,159,-0.861,-4.864,4.003,,,,,,,,,0.00150735,0,0.0514037,0.704466
1869,Q9Y5Y6,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.75,0.26,,,,,,,,,154,50395,ENSG00000149418,ENST00000278742,CCDS8487.1,ST14,0,benign,0.423,deleterious,0,2.10794,13.01,Q9Y5Y6_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.803,-3.142,1.339,,,,,,1.826,,67.84,0.000380117,0,0.0129628,0.971828
2583,P25963,W,X,11,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.75,0.25,,,,,,,,,38,865,ENSG00000100906,ENST00000553342,,NFKBIA,0.16,,,,,3.77799,19.18,P25963_W11X,W,X,11,WX,W11X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00109677,0,0.0374022,0.889194
2985,Q0VG99,G,X,81,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.75,0.32,,,,,,,,,240,2077,ENSG00000188095,ENST00000341735,CCDS42078.1,MESP2,0.2,,,,,2.55289,14.5,Q0VG99_G81X,G,X,81,GX,G81X,Special,Stop,3.29,5.71,2.42,75,132.5,57.5,60.1,141.9,81.8,,,,,,,,,,,,,0.000422385,0,0.0144042,0.968579
2986,Q0VG99,K,E,91,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.33,,,,,,,,,270,2047,ENSG00000188095,ENST00000341735,CCDS42078.1,MESP2,0.23,probably_damaging,0.992,,,3.75956,19.09,Q0VG99_K91E,K,E,91,KE,K91E,PositiveCharge,negativeCharge,9.74,3.22,-6.52,146,147,1,168.6,138.4,-30.2,56,-1.385,-3.237,1.852,,,,,,0.513,,8.06,0.00175634,0,0.0598948,0.8548
3401,P13498,G,D,121,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.2,,,,,,,,,3258,28,ENSG00000051523,ENST00000566229,,CYBA,0.93,,,,,1.77221,11.89,P13498_G121D,G,D,121,GD,G121D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.0016144,0,0.0550542,0.902469
3931,O14745,L,V,110,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.26,0.014,0.004,0.019,0.01,0.002,0.01,0.01,0.03,262,475,ENSG00000109062,ENST00000583369,,SLC9A3R1,0.51,,,,,2.08198,12.92,O14745_L110V,L,V,110,LV,L110V,Hydrophobic,Hydrophobic,9.71,5.61,-4.1,131,117,-14,166.7,140,-26.7,32,-1.743,-3.057,1.314,,,,,,8.271,,89.39,0.00256804,0.00403226,0.0875755,0.972543
4163,Q969F8,R,X,331,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.75,0.26,,,,,,,,,3200,473,ENSG00000116014,ENST00000234371,CCDS12049.1,KISS1R,0.83,,,,,4.94268,28.7,Q969F8_R331X,R,X,331,RX,R331X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,0.000902408,0,0.030774,0.977351
4185,Q14353,M,L,50,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.24,,,,,,,,,216,3076,ENSG00000130005,ENST00000447102,CCDS45897.1,GAMT,0.19,probably_damaging,0.936,deleterious,0,4.84849,27.6,Q14353_M50L,M,L,50,ML,M50L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-1.541,-2.235,0.694,0.013,H,A,0,-0.58,,,,0.00238971,0,0.0814941,0.903466
4189,Q96IS3,G,R,157,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.17,,,,,,,,,1445,1650,ENSG00000173976,ENST00000555978,,RAX2,0.77,probably_damaging,0.98,tolerated,0.13,2.15962,13.18,Q96IS3_G157R,G,R,157,GR,G157R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,,,,0.944284
4371,A6NFY7,R,P,55,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.33,,,,,,,,,250,881,ENSG00000205138,ENST00000378887,CCDS32999.1,SDHAF1,0.48,probably_damaging,0.999,deleterious,0,4.55337,24.6,A6NFY7_R55P,R,P,55,RP,R55P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-1.101,-3.735,2.634,,,,,,,,,,,,0.742095
4372,A6NFY7,G,R,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.32,,,,,,,,,255,876,ENSG00000205138,ENST00000378887,CCDS32999.1,SDHAF1,0.5,probably_damaging,0.999,deleterious,0,4.60454,25.1,A6NFY7_G57R,G,R,57,GR,G57R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-0.915,-3.783,2.868,,,,,,1.375,,43.48,,,,0.753176
4407,P01137,Y,H,81,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.23,,,,,,,,,1123,21896,ENSG00000105329,ENST00000221930,CCDS33031.1,TGFB1,0.21,probably_damaging,0.999,deleterious,0,3.79755,19.28,P01137_Y81H,Y,H,81,YH,Y81H,Hydrophobic,PositiveCharge,5.66,7.59,1.93,181,155,-26,193.6,153.2,-40.4,83,-1.29,-3.847,2.557,0.044,H,A,0.38,-0.44,0.697,,40.77,0.00128873,0,0.0439482,0.615918
4415,O95571,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.75,0.23,,,,,,,,,70,8956,ENSG00000105755,ENST00000292147,CCDS12622.1,ETHE1,0,benign,0.004,deleterious,0.03,3.43234,17.61,O95571_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-2.085,-1.999,-0.086,,,,,,16.783,16.783,61.81,,,,0.975663
4422,P02649,C,R,130,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.24,0.142,0.189,0.117,0.15,0.09,0.11,0.26,0.14,2324,261,ENSG00000130203,ENST00000446996,,APOE,0.6,benign,0.001,tolerated,1,-1.96508,0.007,P02649_C130R,C,R,130,CR,C130R,Special,PositiveCharge,5.07,6.34,1.27,121,174,53,108.5,173.4,64.9,180,-3.107,-1.537,-1.57,0.124,H,A,1.66,0.35,32.342,32.342,94.01,0.00438081,0,0.149395,0.868645
4426,P02649,R,C,176,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.28,0.066,0.087,0.056,0.07,0.08,0.06,0.09,0.07,2462,123,ENSG00000130203,ENST00000446996,,APOE,0.81,probably_damaging,1,deleterious,0,2.94548,15.82,P02649_R176C,R,C,176,RC,R176C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.234,-5.006,3.772,0.013,H,A,1.66,0.2,0.352,,33.44,0.00373079,0,0.127228,0.594348
4830,P0CG37,R,C,112,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.23,,,,,,,,,1655,5130,ENSG00000136698,ENST00000259216,CCDS2162.1,CFC1,0.5,probably_damaging,0.992,deleterious,0,3.26078,16.94,P0CG37_R112C,R,C,112,RC,R112C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.184,-4.904,3.72,,,,,,,,,0.00194312,0,0.0662646,0.75458
5246,P01185,G,S,88,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.26,,,,,,,,,1688,481,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.54,probably_damaging,0.98,deleterious,0.02,4.88011,28,P01185_G88S,G,S,88,GS,G88S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.915,-2.165,1.25,,,,,,8.314,8.314,37.8,0.00860148,0,0.293328,0.838005
5249,P01185,G,V,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.2,,,,,,,,,1587,582,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.33,probably_damaging,1,deleterious,0,4.74512,26.5,P01185_G54V,G,V,54,GV,G54V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.022,-2.439,1.417,,,,,,21.998,21.998,89.02,0.00677026,0.00909091,0.23088,0.921436
5250,P01185,G,R,54,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.2,,,,,,,,,1586,583,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.33,probably_damaging,1,deleterious,0,4.92701,28.5,P01185_G54R,G,R,54,GR,G54R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.022,-2.525,1.503,,,,,,30.628,30.628,89.02,0.00677026,0.00909091,0.23088,0.915277
5251,P01185,G,V,48,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.21,,,,,,,,,1569,600,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.29,possibly_damaging,0.873,deleterious,0,3.57984,18.24,P01185_G48V,G,V,48,GV,G48V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-1.604,-3.698,2.094,,,,,,2.689,,70.73,0.0113194,0,0.386014,0.914856
5537,P04080,G,R,4,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.26,,,,,,,,,47,2070,ENSG00000160213,ENST00000291568,CCDS13701.1,CSTB,0.04,probably_damaging,0.982,deleterious,0,3.06077,16.22,P04080_G4R,G,R,4,GR,G4R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,-1.324,-2.059,0.735,,,,,,25.276,25.276,73.47,0.0093363,0.0212766,0.318387,0.954026
5565,O95613,R,X,1923,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.75,0.17,,,,,,,,,86952,33929,ENSG00000160299,ENST00000359568,CCDS33592.1,PCNT,0.58,,,,,10.4593,43,O95613_R1923X,R,X,1923,RX,R1923X,PositiveCharge,Stop,6.34,5.71,-0.63,174,132.5,-41.5,173.4,141.9,-31.5,,,,,,,,,,,,,,,,0.930701
6217,P58012,Y,X,274,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.75,0.26,,,,,,,,,1240,1677,ENSG00000183770,ENST00000330315,CCDS3105.1,FOXL2,0.73,,,,,7.56973,39,P58012_Y274X,Y,X,274,YX,Y274X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.00104452,0.00980392,0.0356203,0.902575
6221,P58012,G,D,187,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.24,,,,,,,,,978,1939,ENSG00000183770,ENST00000330315,CCDS3105.1,FOXL2,0.5,probably_damaging,0.918,deleterious,0.03,4.39221,23.2,P58012_G187D,G,D,187,GD,G187D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.15,-3.199,2.049,,,,,,2.371,,48.4,0.0011304,0,0.0385489,0.878574
6420,P35475,L,P,358,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.26,,,,,,,,,328,288,ENSG00000127415,ENST00000514224,,IDUA,0.69,benign,0.068,tolerated,0.09,0.039489,4.219,P35475_L358P,L,P,358,LP,L358P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,,,,,,,,,,,,0.00166313,0,0.0567162,0.905673
6421,P35475,R,P,360,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.26,,,,,,,,,322,282,ENSG00000127415,ENST00000514224,,IDUA,0.69,possibly_damaging,0.845,deleterious,0.05,1.95957,12.51,P35475_R360P,R,P,360,RP,R360P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.000616385,0,0.02102,0.962088
6427,P22607,S,C,249,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.16,,,,,,,,,212,1312,ENSG00000068078,ENST00000352904,CCDS3354.1,FGFR3,0.36,probably_damaging,0.995,tolerated,0.06,3.69013,18.75,P22607_S249C,S,C,249,SC,S249C,Polar,Special,5.68,5.07,-0.61,105,121,16,89,108.5,19.5,112,-1.348,-4.373,3.025,,,,,,,,,0.000565591,0,0.0192878,0.813467
6993,P52952,A,V,219,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.24,,,,,,,,,2319,6,ENSG00000183072,ENST00000329198,CCDS4387.1,NKX2-5,0.68,possibly_damaging,0.514,deleterious,0,5.33497,34,P52952_A219V,A,V,219,AV,A219V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.403,-3.103,1.7,,,,,,4.504,,62.96,0.00418481,0,0.142711,0.95029
7048,Q12948,Q,X,23,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.75,0.25,,,,,,,,,66,3381,ENSG00000054598,ENST00000380874,CCDS4473.1,FOXC1,0.04,,,,,5.38211,34,Q12948_Q23X,Q,X,23,QX,Q23X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00126156,0,0.0430218,0.904853
7083,P05549,G,E,108,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.26,,,,,,,,,75,102,ENSG00000137203,ENST00000498450,,TFAP2A,0.79,probably_damaging,0.998,deleterious,0,5.77429,36,P05549_G108E,G,E,108,GE,G108E,Special,negativeCharge,3.29,3.22,-0.07,75,147,72,60.1,138.4,78.3,98,,,,,,,,,,,,0.00162958,0,0.0555719,0.900764
7428,Q9BSQ5,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.75,0.28,,,,,,,,,85,73186,ENSG00000136280,ENST00000541586,CCDS55109.1,CCM2,0,,,tolerated,0.14,1.2858,10.2,Q9BSQ5_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-2.206,-3.018,0.812,,,,,,8.655,,90.32,0.000343852,0,0.0117261,0.981981
7744,Q15465,V,A,332,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.3,,,,,,,,,5779,3244,ENSG00000164690,ENST00000297261,CCDS5942.1,SHH,0.72,,,deleterious,0,1.73819,11.77,Q15465_V332A,V,A,332,VA,V332A,Hydrophobic,Hydrophobic,5.61,6,0.39,117,89,-28,140,88.6,-51.4,64,-1.489,-2.664,1.175,,,,,,4.482,,57.14,0.00202726,0,0.0691339,0.950834
8102,Q16595,R,C,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.75,0.26,,,,,,,,,138,37123,ENSG00000165060,ENST00000377270,CCDS6626.1,FXN,0.19,possibly_damaging,0.547,deleterious,0.02,2.9141,15.71,Q16595_R40C,R,C,40,RC,R40C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.681,-4.953,3.272,,,,,,0.692,,73.81,0.00400594,0,0.136611,0.819777
157,Q0VG99,A,G,66,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.76,0.32,0.022,0.068,0.001,0.03,,0.01,0.11,0.01,196,2121,ENSG00000188095,ENST00000341735,CCDS42078.1,MESP2,0.17,benign,0.183,,,-0.410609,2.081,Q0VG99_A66G,A,G,66,AG,A66G,Hydrophobic,Special,6,3.29,-2.71,89,75,-14,88.6,60.1,-28.5,60,-1.543,-3.2,1.657,,,,,,2.672,,64.74,0.00105708,0,0.0418053,0.950593
190,P49748,R,Q,23,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.76,0.19,,,,0.004,,0.02,0.004,,66,550,ENSG00000072778,ENST00000356839,CCDS11090.1,ACADVL,0.04,,,tolerated,0.13,3.108,16.38,P49748_R23Q,R,Q,23,RQ,R23Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.688,-2.275,0.587,,,,,,18.388,18.388,91.15,0.000129875,0,0.00513628,1.01711
248,Q13461,C,X,240,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.76,0.26,,,,,,,,,963,1017,ENSG00000186790,ENST00000335071,CCDS550.1,FOXE3,0.75,,,,,3.45689,17.71,Q13461_C240X,C,X,240,CX,C240X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00453331,0,0.154595,0.937233
4122,Q9Y2V3,Y,X,303,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.76,0.29,,,,,,,,,4250,2101,ENSG00000134438,ENST00000334889,CCDS11972.1,RAX,0.88,,,,,6.90689,38,Q9Y2V3_Y303X,Y,X,303,YX,Y303X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,0.0038867,0,0.132544,0.945391
4160,P00746,S,X,42,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.76,0.3,,,,,,,,,1021,2921,ENSG00000197766,ENST00000327726,CCDS12046.1,CFD,0.17,,,,,5.43631,35,P00746_S42X,S,X,42,SX,S42X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,,,,0.93658
4393,Q9NYJ7,G,D,385,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.76,0.29,,,,,,,,,8182,1380,ENSG00000090932,ENST00000205143,CCDS12538.1,DLL3,0.62,possibly_damaging,0.772,deleterious,0,4.69615,26,Q9NYJ7_G385D,G,D,385,GD,G385D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-0.717,-2.903,2.186,,,,,,10.143,10.143,61.49,0.000437765,0,0.0149287,0.856665
4427,P02649,W,X,228,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.76,0.24,,,,,,,,,2619,25,ENSG00000130203,ENST00000252486,CCDS12647.1,APOE,0.72,,,,,2.46352,14.2,P02649_W228X,W,X,228,WX,W228X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00754643,0,0.257349,0.884491
5245,P01185,C,Y,92,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.76,0.26,,,,,,,,,1701,468,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.56,probably_damaging,1,deleterious,0,4.12946,21.3,P01185_C92Y,C,Y,92,CY,C92Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,-1.253,-4.063,2.81,,,,,,0.558,,31.1,0.00413918,0,0.141155,0.804909
5445,O43526,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.76,0.26,,,,,,,,,176,38784,ENSG00000075043,ENST00000359689,,KCNQ2,0,possibly_damaging,0.838,deleterious,0,2.61736,14.71,O43526_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.497,-2.067,0.57,,,,,,12.782,12.782,71.9,0.00107416,0,0.0366312,1.08515
5568,Q7Z412,L,P,45,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.76,0.25,,,,,,,,,133,1983,ENSG00000215193,ENST00000399744,CCDS13750.1,PEX26,0.15,probably_damaging,1,deleterious,0,2.60717,14.68,Q7Z412_L45P,L,P,45,LP,L45P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.201,-2.374,1.173,,,,,,32.442,32.442,65.57,0.00090588,0,0.0308924,0.942887
7227,Q86WC4,C,X,12,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.76,0.21,,,,,,,,,122,10431,ENSG00000081087,ENST00000193322,CCDS5062.1,OSTM1,0.04,,,,,3.49197,17.86,Q86WC4_C12X,C,X,12,CX,C12X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
7723,Q12809,A,V,913,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.76,0.15,,,,,,,,,8074,2872,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.79,benign,0.001,tolerated,0.29,2.16707,13.2,Q12809_A913V,A,V,913,AV,A913V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-1.756,-2.176,0.42,,,,,,25.088,25.088,93.18,0.000724138,0,0.0246946,1.01165
8098,Q16595,M,L,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.76,0.19,,,,,,,,,21,37240,ENSG00000165060,ENST00000377270,CCDS6626.1,FXN,0,possibly_damaging,0.693,deleterious,0,3.88914,19.77,Q16595_M1L,M,L,1,ML,M1L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-1.655,-2.484,0.829,,,,,,3.086,,72.86,0.00358381,0.00478469,0.122215,0.990191
8179,O00358,S,N,57,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.76,0.32,,,,,,,,,830,2621,ENSG00000178919,ENST00000375123,CCDS35078.1,FOXE1,0.15,possibly_damaging,0.674,deleterious,0,4.08637,21,O00358_S57N,S,N,57,SN,S57N,Polar,Polar,5.68,5.47,-0.21,105,132,27,89,114.1,25.1,46,-1.146,-3.04,1.894,,,,,,,,,0.00094801,0,0.0323291,0.839765
158,Q0VG99,S,P,224,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.77,0.2,,,,,,,,,669,1648,ENSG00000188095,ENST00000341735,CCDS42078.1,MESP2,0.56,benign,0,,,1.06829,9.362,Q0VG99_S224P,S,P,224,SP,S224P,Polar,Special,5.68,6.3,0.62,105,115,10,89,112.7,23.7,74,-2.241,-1.653,-0.588,,,,,,40.127,40.127,29.22,0.00469944,0,0.185853,0.989609
175,P54098,P,S,18,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.77,0.24,,,,,,,,,459,1374,ENSG00000140521,ENST00000442287,CCDS10350.1,POLG,0.01,possibly_damaging,0.731,tolerated,0.44,2.19829,13.31,P54098_P18S,P,S,18,PS,P18S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-2.083,-2.374,0.291,,,,,,19.702,19.702,93.79,0.000105651,0,0.00417826,1.01585
187,P49748,G,D,43,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.77,0.24,0.011,0.027,0.005,0.07,0.18,0.04,0.07,0.01,6,490,ENSG00000072778,ENST00000356839,CCDS11090.1,ACADVL,0.07,benign,0,tolerated,0.18,0.859134,8.478,P49748_G43D,G,D,43,GD,G43D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.759,-3.259,1.5,,,,,,7.876,,91.3,9.58e-05,0,0.00378713,0.966882
296,P10071,P,L,998,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.77,0.26,0.256,0.181,0.293,0.42,0.79,0.42,0.15,0.31,186375,1998,ENSG00000106571,ENST00000395925,CCDS5465.1,GLI3,0.63,benign,0.001,tolerated,0.5,-0.494582,1.729,P10071_P998L,P,L,998,PL,P998L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.744,-2.026,0.282,,,,,,34.034,34.034,70.57,0.000818058,0,0.0323524,1.09251
338,P02545,E,G,2,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.77,0.25,,,,,,,,,201,85,ENSG00000160789,ENST00000347559,,LMNA,0,benign,0.035,deleterious,0.01,4.35506,22.9,P02545_E2G,E,G,2,EG,E2G,negativeCharge,Special,3.22,3.29,0.07,147,75,-72,138.4,60.1,-78.3,98,-1.858,-3.311,1.453,,,,,,6.184,,91.72,0.00134692,0,0.053268,0.940784
119,P56705,L,P,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.32,,,,,,,,,79,15414,ENSG00000162552,ENST00000290167,CCDS223.1,WNT4,0.03,benign,0.078,deleterious,0.01,2.2372,13.44,P56705_L12P,L,P,12,LP,L12P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.76,-3.59,1.83,,,,,,1.979,,80.06,0.000307596,0,0.0104896,0.93563
445,P04629,Q,X,9,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.25,,,,,,,,,46,4105,ENSG00000198400,ENST00000524377,CCDS1161.1,NTRK1,0.01,,,,,5.38801,34,P04629_Q9X,Q,X,9,QX,Q9X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000307068,0,0.0104716,0.98231
1482,Q9NS15,Y,X,114,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.24,,,,,,,,,287,277,ENSG00000168056,ENST00000527339,,LTBP3,0.81,,,,,3.29225,17.06,Q9NS15_Y114X,Y,X,114,YX,Y114X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
1984,Q9C0J9,P,R,384,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.29,,,,,,,,,312,595,ENSG00000123095,ENST00000242728,CCDS8706.1,BHLHE41,0.8,possibly_damaging,0.691,deleterious,0.03,2.68548,14.94,Q9C0J9_P384R,P,R,384,PR,P384R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,-1.236,-3.703,2.467,,,,,,1.676,,42.32,0.00529706,0,0.180641,0.804021
2447,O75503,W,X,75,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.28,,,,,,,,,60,430,ENSG00000102805,ENST00000377453,CCDS9456.1,CLN5,0.18,,,,,12.5071,46,O75503_W75X,W,X,75,WX,W75X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,,,,0.900982
2639,P30793,Q,X,48,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.28,,,,,,,,,76,59526,ENSG00000131979,ENST00000536224,CCDS45110.1,GCH1,0.23,,,,,4.74098,26.5,P30793_Q48X,Q,X,48,QX,Q48X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00400476,0.0049505,0.136571,0.955443
2697,Q14767,Q,X,111,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.19,,,,,,,,,459,75682,ENSG00000119681,ENST00000261978,CCDS9831.1,LTBP2,0.06,,,,,8.3144,40,Q14767_Q111X,Q,X,111,QX,Q111X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
3526,Q02846,A,S,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.17,0.206,0.126,0.243,0.38,0.67,0.36,0.12,0.33,607,17139,ENSG00000132518,ENST00000254854,CCDS11127.1,GUCY2D,0.05,benign,0.12,tolerated,0.25,1.49916,10.96,Q02846_A52S,A,S,52,AS,A52S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.647,-2.309,0.662,,,,,,18.643,18.643,86.04,0.000697223,0.000951475,0.0237768,1.00511
4164,Q969F8,R,P,386,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.21,,,,,,,,,3366,307,ENSG00000116014,ENST00000234371,CCDS12049.1,KISS1R,0.97,possibly_damaging,0.896,deleterious,0,2.9565,15.86,Q969F8_R386P,R,P,386,RP,R386P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,-2.202,-3.796,1.594,,,,,,2.3,,79.15,0.00506474,0,0.172718,0.91862
4451,Q9H9S5,W,X,255,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.3,,,,,,,,,10168,2362,ENSG00000181027,ENST00000318584,CCDS12691.1,FKRP,0.52,,,,,5.83599,36,Q9H9S5_W255X,W,X,255,WX,W255X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00173397,0,0.0591318,0.892811
4544,O15232,R,H,70,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.28,,,,,,,,,243,19386,ENSG00000132031,ENST00000407540,CCDS46226.1,MATN3,0.14,benign,0.174,tolerated,0.12,1.79918,11.98,O15232_R70H,R,H,70,RH,R70H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.137,-4.309,2.172,,,,,,1.138,,88.07,0.00127798,0.00480769,0.0435817,0.888456
4659,O95343,G,D,69,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.25,,,,,,,,,437,1726,ENSG00000138083,ENST00000260653,CCDS1821.1,SIX3,0.21,benign,0.034,deleterious,0.03,1.87171,12.22,O95343_G69D,G,D,69,GD,G69D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.625,-3.19,1.565,,,,,,4.442,,82.83,,,,0.912965
5242,P01185,C,X,98,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.26,,,,,,,,,1720,449,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.6,,,,,2.2679,13.54,P01185_C98X,C,X,98,CX,C98X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00488126,0,0.166461,0.938506
5243,P01185,G,V,96,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.26,,,,,,,,,1713,456,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.59,probably_damaging,0.997,deleterious,0,3.18973,16.68,P01185_G96V,G,V,96,GV,G96V,Special,Hydrophobic,3.29,5.61,2.32,75,117,42,60.1,140,79.9,109,-0.915,-3.655,2.74,,,,,,0.837,,31.1,0.00550059,0,0.187581,0.801721
5244,P01185,G,W,93,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.26,,,,,,,,,1703,466,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.57,probably_damaging,1,deleterious,0,3.48432,17.83,P01185_G93W,G,W,93,GW,G93W,Special,Hydrophobic,3.29,5.89,2.6,75,204,129,60.1,227.8,167.7,184,-1.065,-5.144,4.079,,,,,,0.399,,81.71,0.00685397,0,0.233735,0.787312
5264,Q9BZ23,S,X,178,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.3,,,,,,,,,244,1394,ENSG00000125779,ENST00000316562,CCDS13071.2,PANK2,0.31,,,,,2.94487,15.82,Q9BZ23_S178X,S,X,178,SX,S178X,Polar,Stop,5.68,5.71,0.03,105,132.5,27.5,89,141.9,52.9,,,,,,,,,,,,,0.000203885,0,0.00695291,0.980409
5307,P01034,A,T,25,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.2,0.178,0.184,0.175,0.19,0.14,0.15,0.22,0.23,156,4133,ENSG00000101439,ENST00000398411,CCDS13158.1,CST3,0.17,,,tolerated,0.5,1.5023,10.97,P01034_A25T,A,T,25,AT,A25T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.653,-2.127,0.474,,,,,,17.012,17.012,73.97,0.000862914,0,0.0294272,1.01417
5399,O95467,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.77,0.33,,,,,,,,,11,8684,ENSG00000087460,ENST00000371085,CCDS13472.1,GNAS,0,probably_damaging,0.99,deleterious,0,2.33658,13.77,O95467_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.541,-2.631,1.09,,,,,,,,,,,,0.882881
5444,O43526,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.77,0.26,,,,,,,,,177,38783,ENSG00000075043,ENST00000359689,,KCNQ2,0,probably_damaging,0.932,deleterious,0,1.79093,11.95,O43526_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.497,-3.317,1.82,,,,,,2.854,,71.9,0.00107416,0,0.0366312,1.04387
5538,O43918,M,L,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.77,0.28,,,,,,,,,127,11733,ENSG00000160224,ENST00000291582,CCDS13706.1,AIRE,0,benign,0.039,tolerated,1,-0.65946,1.107,O43918_M1L,M,L,1,ML,M1L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-2.511,-2.269,-0.242,,,,,,11.989,11.989,78.35,0.000405355,0,0.0138234,1.02528
6218,P58012,Y,N,258,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.28,,,,,,,,,1190,1727,ENSG00000183770,ENST00000330315,CCDS3105.1,FOXL2,0.69,probably_damaging,0.996,tolerated,0.08,2.07134,12.88,P58012_Y258N,Y,N,258,YN,Y258N,Hydrophobic,Polar,5.66,5.47,-0.19,181,132,-49,193.6,114.1,-79.5,143,-1.446,-3.43,1.984,,,,,,2.626,,48.14,0.000614748,0,0.0209642,0.856291
6418,P35475,W,X,270,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.23,0,0,0,,,,,,6,643,ENSG00000127415,ENST00000514224,,IDUA,0.52,,,,,8.99704,41,P35475_W270X,W,X,270,WX,W270X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00103147,0,0.0351753,0.889194
6419,P35475,G,R,277,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.24,0.01,0.028,0,0.02,0.01,0.01,0.05,0.001,26,623,ENSG00000127415,ENST00000514224,,IDUA,0.53,benign,0.36,tolerated,0.09,1.17402,9.776,P35475_G277R,G,R,277,GR,G277R,Special,PositiveCharge,3.29,6.34,3.05,75,174,99,60.1,173.4,113.3,125,,,,,,,,,,,,0.00146847,0,0.0500779,0.897226
6422,P35475,P,R,401,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.29,,,,,,,,,12,29,ENSG00000127415,ENST00000514224,,IDUA,0.77,probably_damaging,1,deleterious,0,3.44813,17.67,P35475_P401R,P,R,401,PR,P401R,Special,PositiveCharge,6.3,6.34,0.04,115,174,59,112.7,173.4,60.7,103,,,,,,,,,,,,0.00248903,0,0.0848811,0.95701
6717,O14746,P,S,33,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.26,,,,,,,,,97,335,ENSG00000164362,ENST00000296820,,TERT,0.04,benign,0.005,tolerated,0.51,-0.003197,3.998,O14746_P33S,P,S,33,PS,P33S,Special,Polar,6.3,5.68,-0.62,115,105,-10,112.7,89,-23.7,74,-1.652,-3.348,1.696,,,,,,5.909,,70.14,0.000207807,0,0.00708663,1.04879
6829,P15848,R,Q,95,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.32,,,,,,,,,821,148,ENSG00000113273,ENST00000264914,CCDS4043.1,ARSB,0.18,probably_damaging,0.973,deleterious,0,6.65723,38,P15848_R95Q,R,Q,95,RQ,R95Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-1.331,-3.447,2.116,,H,A,0.56,-0.78,1.385,,75.05,0.000382897,0,0.0130576,0.691123
7080,P05549,R,P,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.29,,,,,,,,,84,111,ENSG00000137203,ENST00000498450,,TFAP2A,0.82,probably_damaging,1,deleterious,0,5.40247,34,P05549_R111P,R,P,111,RP,R111P,PositiveCharge,Special,6.34,6.3,-0.04,174,115,-59,173.4,112.7,-60.7,103,,,,,,,,,,,,0.00225478,0.00306749,0.0768926,0.945882
7081,P05549,R,W,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.29,,,,,,,,,83,110,ENSG00000137203,ENST00000498450,,TFAP2A,0.82,probably_damaging,1,deleterious,0,4.26905,22.3,P05549_R111W,R,W,111,RW,R111W,PositiveCharge,Hydrophobic,6.34,5.89,-0.45,174,204,30,173.4,227.8,54.4,101,,,,,,,,,,,,0.00225478,0.00306749,0.0768926,0.96958
7082,P05549,R,G,111,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.77,0.29,,,,,,,,,83,110,ENSG00000137203,ENST00000498450,,TFAP2A,0.82,probably_damaging,1,deleterious,0,3.97922,20.4,P05549_R111G,R,G,111,RG,R111G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,,,,,,,,,,,,0.00225478,0.00306749,0.0768926,0.937217
7346,Q15672,Q,X,28,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.77,0.32,,,,,,,,,122,1772,ENSG00000122691,ENST00000242261,CCDS5367.1,TWIST1,0.14,,,,,5.71978,36,Q15672_Q28X,Q,X,28,QX,Q28X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.00102093,0,0.0348157,0.912628
8099,Q16595,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.77,0.2,,,,,,,,,22,37239,ENSG00000165060,ENST00000377270,CCDS6626.1,FXN,0,possibly_damaging,0.897,deleterious,0,3.20473,16.73,Q16595_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.655,-3.261,1.606,,,,,,2.94,,72.86,0.00358381,0.00478469,0.122215,0.960876
8100,Q16595,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.77,0.2,,,,,,,,,23,37238,ENSG00000165060,ENST00000377270,CCDS6626.1,FXN,0,possibly_damaging,0.842,deleterious,0,4.08796,21,Q16595_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.655,-3.136,1.481,,,,,,1.961,,72.86,0.00358381,0.00478469,0.122215,0.970642
8101,Q16595,M,I,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.77,0.2,,,,,,,,,23,37238,ENSG00000165060,ENST00000377270,CCDS6626.1,FXN,0,possibly_damaging,0.842,deleterious,0,4.02764,20.7,Q16595_M1I,M,I,1,MI,M1I,Hydrophobic,Hydrophobic,5.74,6.02,0.28,149,131,-18,162.9,166.7,3.8,10,-1.655,-3.136,1.481,,,,,,1.961,,72.86,0.00358381,0.00478469,0.122215,0.970642
138,Q5SW96,W,X,22,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.78,0.29,,,,,,,,,183,25124,ENSG00000157978,ENST00000374338,CCDS30639.1,LDLRAP1,0.07,,,,,6.71249,38,Q5SW96_W22X,W,X,22,WX,W22X,Hydrophobic,Stop,5.89,5.71,-0.18,204,132.5,-71.5,227.8,141.9,-85.9,,,,,,,,,,,,,0.00253148,0.0034965,0.0863288,0.940601
2482,P02462,M,L,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.78,0.26,,,,,,,,,105,21523,ENSG00000187498,ENST00000375820,CCDS9511.1,COL4A1,0,,,deleterious,0,1.96562,12.53,P02462_M1L,M,L,1,ML,M1L,Hydrophobic,Hydrophobic,5.74,9.71,3.97,149,131,-18,162.9,166.7,3.8,15,-1.71,-2.194,0.484,,,,,,,,,0.000310069,0,0.010574,0.989106
5241,P01185,E,X,113,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.78,0.3,,,,,,,,,1937,232,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.69,,,,,4.20093,21.8,P01185_E113X,E,X,113,EX,E113X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.0100789,0.0392157,0.343711,0.919765
5446,P35713,C,X,240,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.78,0.33,,,,,,,,,160,878,ENSG00000203883,ENST00000340356,CCDS13552.1,SOX18,0.62,,,,,6.24304,37,P35713_C240X,C,X,240,CX,C240X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,,,,0.935079
5578,P13224,Y,C,113,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.78,0.3,,,,,,,,,1236,36,ENSG00000203618,ENST00000366425,CCDS42980.1,GP1BB,0.55,probably_damaging,0.986,tolerated,0.05,4.11461,21.2,P13224_Y113C,Y,C,113,YC,Y113C,Hydrophobic,Special,5.66,5.07,-0.59,181,121,-60,193.6,108.5,-85.1,194,-1.432,-2.605,1.173,0.116,G,A,0.25,-0.54,11.027,11.027,41.75,0.00899229,0,0.306656,0.699406
6452,P28360,E,V,84,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.78,0.25,,,,,,,,,484,3787,ENSG00000163132,ENST00000382723,CCDS3378.2,MSX1,0.28,benign,0.012,tolerated,0.22,1.56967,11.2,P28360_E84V,E,V,84,EV,E84V,negativeCharge,Hydrophobic,3.22,5.61,2.39,147,117,-30,138.4,140,1.6,121,,,,,,,,,,,,0.00467847,0,0.159545,0.945389
7035,O15303,G,S,150,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.78,0.32,,,,,,,,,627,782,ENSG00000113262,ENST00000231188,CCDS4442.1,GRM6,0.17,probably_damaging,0.999,deleterious,0,6.0641,37,O15303_G150S,G,S,150,GS,G150S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,,,,,0.000457777,0,0.0156111,0.859363
7722,Q12809,R,C,948,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.78,0.11,,,,,,,,,8178,2768,ENSG00000055118,ENST00000262186,CCDS5910.1,KCNH2,0.82,benign,0.244,tolerated,0.18,2.52034,14.39,Q12809_R948C,R,C,948,RC,R948C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.991,-4.857,2.866,,,,,,1.071,,90.85,0.000401115,0,0.0136789,0.833591
7745,Q15465,E,X,284,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.78,0.32,,,,,,,,,5634,3389,ENSG00000164690,ENST00000297261,CCDS5942.1,SHH,0.61,,,,,2.89001,15.63,Q15465_E284X,E,X,284,EX,E284X,negativeCharge,Stop,3.22,5.71,2.49,147,132.5,-14.5,138.4,141.9,3.5,,,,,,,,,,,,,0.00402178,0.011236,0.137151,0.953272
7766,P43694,S,F,52,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.78,0.29,,,,,,,,,234,86,ENSG00000136574,ENST00000532059,,GATA4,0.12,possibly_damaging,0.884,deleterious,0,4.26781,22.3,P43694_S52F,S,F,52,SF,S52F,Polar,Hydrophobic,5.68,3.32,-2.36,105,165,60,89,189.9,100.9,155,-1.799,-4.139,2.34,,,,,,1.274,,93.44,0.00135913,0,0.0463492,0.852347
17,Q9NYJ7,F,C,172,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.79,0.34,,,,0.24,0.11,0.3,0.2,0.34,4003,5559,ENSG00000090932,ENST00000205143,CCDS12538.1,DLL3,0.28,benign,0.001,tolerated,0.07,0.663697,7.556,Q9NYJ7_F172C,F,C,172,FC,F172C,Hydrophobic,Special,3.32,5.07,1.75,165,121,-44,189.9,108.5,-81.4,205,-2.202,-3.79,1.588,,,,,,44.498,44.498,87.86,0.00115516,0,0.0456839,0.931684
1590,P11487,L,P,6,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.3,,,,,,,,,108,8693,ENSG00000186895,ENST00000334134,CCDS8195.1,FGF3,0.03,,,deleterious,0,2.25965,13.51,P11487_L6P,L,P,6,LP,L6P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-1.494,-2.149,0.655,,,,,,23.184,23.184,70.71,0.00086439,0,0.0294775,1.07879
3400,P13498,P,Q,156,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.24,,,,,,,,,3352,41,ENSG00000051523,ENST00000261623,CCDS32504.1,CYBA,0.8,probably_damaging,1,deleterious,0,4.05441,20.8,P13498_P156Q,P,Q,156,PQ,P156Q,Special,Polar,6.3,6.24,-0.06,115,146,31,112.7,143.8,31.1,76,-1.461,-3.773,2.312,,,,,,2.584,,81.54,0.0128654,0,0.438738,0.826149
4337,P27539,C,Y,267,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.37,,,,,,,,,27229,364,ENSG00000130283,ENST00000247005,CCDS42526.1,GDF1,0.72,probably_damaging,0.999,deleterious,0,3.48753,17.84,P27539_C267Y,C,Y,267,CY,C267Y,Special,Hydrophobic,5.07,5.66,0.59,121,181,60,108.5,193.6,85.1,194,,,,,,,,,,,,0.00117149,0,0.0399502,0.899548
5240,P01185,C,G,116,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.32,,,,,,,,,1946,223,ENSG00000101200,ENST00000380293,CCDS13045.1,AVP,0.71,probably_damaging,0.956,deleterious,0.01,4.11662,21.2,P01185_C116G,C,G,116,CG,C116G,Special,Special,5.07,3.29,-1.78,121,75,-46,108.5,60.1,-48.4,159,-1.477,-2.238,0.761,,,,,,22.073,22.073,89.63,0.00256379,0,0.0874306,0.973643
5579,P13224,A,P,133,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.32,,,,,,,,,1295,16,ENSG00000203618,ENST00000366425,CCDS42980.1,GP1BB,0.65,possibly_damaging,0.596,tolerated,0.21,2.11394,13.03,P13224_A133P,A,P,133,AP,A133P,Hydrophobic,Special,6,6.3,0.3,89,115,26,88.6,112.7,24.1,27,-1.612,-2.415,0.803,0.359,.,B,0.52,-0.37,17.292,17.292,82.52,0.0062289,0,0.212418,0.948712
5582,O43435,G,S,310,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.33,,,,0.01,0.03,,0.01,,842,407,ENSG00000184058,ENST00000332710,CCDS13767.1,TBX1,0.63,benign,0.172,tolerated,0.11,4.25912,22.2,O43435_G310S,G,S,310,GS,G310S,Special,Polar,3.29,5.68,2.39,75,105,30,60.1,89,28.9,56,-0.921,-2.896,1.975,,,,,,,,,0.00733262,0.0227273,0.250057,0.793497
6489,P08294,R,G,231,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.26,,,,0.02,0.02,0.02,0.06,0.004,4749,631,ENSG00000109610,ENST00000382120,CCDS3430.1,SOD3,0.96,benign,0.245,deleterious,0.01,2.8472,15.48,P08294_R231G,R,G,231,RG,R231G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-1.606,-2.254,0.648,,,,,,12.959,12.959,72.92,0.0240904,0,0.821533,0.916518
7743,Q15465,A,T,383,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.34,,,,,,,,,5931,3092,ENSG00000164690,ENST00000297261,CCDS5942.1,SHH,0.83,,,tolerated,0.34,1.87035,12.21,Q15465_A383T,A,T,383,AT,A383T,Hydrophobic,Polar,6,5.6,-0.4,89,119,30,88.6,116.1,27.5,58,-1.595,-3.272,1.677,,,,,,2.56,,76.19,0.00215227,0,0.0733969,0.961796
7928,Q6KF10,Q,L,253,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.25,,,,,,,,,15620,2843,ENSG00000156466,ENST00000287020,CCDS34926.1,GDF6,0.56,benign,0.087,tolerated,0.36,0.791357,8.169,Q6KF10_Q253L,Q,L,253,QL,Q253L,Polar,Hydrophobic,6.24,9.71,3.47,146,131,-15,143.8,166.7,22.9,113,-1.968,-2.274,0.306,,,,,,14.691,14.691,83.3,0.00285024,0.0049505,0.097199,1.00062
8378,P51810,G,D,35,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.79,0.25,,,,,,,,,251,22149,ENSG00000101850,ENST00000467482,CCDS14134.2,GPR143,0.09,probably_damaging,0.981,tolerated,0.09,4.54032,24.5,P51810_G35D,G,D,35,GD,G35D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.256,-3.47,2.214,,,,,,1.412,,48.35,0.00175881,0,0.059979,0.847855
8399,Q6T4R5,Q,X,39,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.79,0.26,,,,,,,,,452,360120,ENSG00000188158,ENST00000380060,CCDS14181.1,NHS,0.02,,,,,6.38438,37,Q6T4R5_Q39X,Q,X,39,QX,Q39X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,,,,0.935826
275,P09758,M,R,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.8,0.33,,,,,,,,,340,1728,ENSG00000184292,ENST00000371225,CCDS609.1,TACSTD2,0,,,deleterious,0,4.20705,21.8,P09758_M1R,M,R,1,MR,M1R,Hydrophobic,PositiveCharge,5.74,6.34,0.6,149,174,25,162.9,173.4,10.5,91,-1.644,-3.657,2.013,,,,,,1,,46.13,0.000765278,0,0.0260976,0.897657
3392,O95822,G,D,3,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.8,0.3,,,,,,,,,26,17031,ENSG00000103150,ENST00000262430,CCDS42206.1,MLYCD,0.01,possibly_damaging,0.55,deleterious,0.04,3.85625,19.59,O95822_G3D,G,D,3,GD,G3D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,-1.611,-3.533,1.922,,,,,,4.163,,86,,,,0.906525
4338,P27539,C,X,227,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.8,0.28,,,,,,,,,27110,483,ENSG00000130283,ENST00000247005,CCDS42526.1,GDF1,0.61,,,,,11.6661,45,P27539_C227X,C,X,227,CX,C227X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.00202878,0,0.0691857,0.961734
8036,P23378,M,T,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.8,0.21,,,,,,,,,153,25138,ENSG00000178445,ENST00000321612,CCDS34987.1,GLDC,0,benign,0.05,deleterious,0,2.80726,15.35,P23378_M1T,M,T,1,MT,M1T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.901,-3.287,1.386,,,,,,2.887,,82.35,5.96e-05,0,0.00203274,0.979018
3235,Q86Y38,A,S,115,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.81,0.26,,,,0.02,0.002,0.01,0.02,0.03,428,368685,ENSG00000103489,ENST00000261381,CCDS10569.1,XYLT1,0.12,possibly_damaging,0.51,tolerated,0.06,1.99209,12.62,Q86Y38_A115S,A,S,115,AS,A115S,Hydrophobic,Polar,6,5.68,-0.32,89,105,16,88.6,89,0.4,99,-1.703,-2.083,0.38,,,,,,16.832,16.832,85.71,0.000240777,0,0.008211,1.0134
4339,P27539,G,D,162,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.81,0.32,,,,,,,,,26914,679,ENSG00000130283,ENST00000247005,CCDS42526.1,GDF1,0.44,possibly_damaging,0.508,tolerated,0.9,1.32001,10.33,P27539_G162D,G,D,162,GD,G162D,Special,negativeCharge,3.29,5.05,1.76,75,133,58,60.1,111.1,51,94,,,,,,,,,,,,0.00216693,0,0.0738969,0.962864
7036,O15303,P,L,46,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.81,0.32,,,,,,,,,316,471,ENSG00000113262,ENST00000231188,CCDS4442.1,GRM6,0.05,benign,0.217,deleterious,0,3.91272,19.9,O15303_P46L,P,L,46,PL,P46L,Special,Hydrophobic,6.3,9.71,3.41,115,131,16,112.7,166.7,54,98,-1.341,-3.313,1.972,,,,,,4.377,,92.7,0.000376236,0,0.0128304,0.886976
7281,O00628,T,P,14,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.81,0.34,,,,,,,,,120,7556,ENSG00000112357,ENST00000318471,CCDS5180.1,PEX7,0.04,benign,0.381,deleterious,0.01,4.01438,20.6,O00628_T14P,T,P,14,TP,T14P,Polar,Special,5.6,6.3,0.7,119,115,-4,116.1,112.7,-3.4,38,-1.324,-3.349,2.025,,,,,,17.921,17.921,91.33,0.00223616,0.00647249,0.0762576,0.900986
7759,P50219,Y,X,164,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.81,0.32,,,,,,,,,162,4017,ENSG00000130675,ENST00000252971,CCDS34788.1,MNX1,0.41,,,,,6.1725,37,P50219_Y164X,Y,X,164,YX,Y164X,Hydrophobic,Stop,5.66,5.71,0.05,181,132.5,-48.5,193.6,141.9,-51.7,,,,,,,,,,,,,,,,0.923152
7926,Q6KF10,P,H,327,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.81,0.33,,,,,,,,,15842,2621,ENSG00000156466,ENST00000287020,CCDS34926.1,GDF6,0.72,benign,0.002,tolerated,0.55,-0.241286,2.837,Q6KF10_P327H,P,H,327,PH,P327H,Special,PositiveCharge,6.3,7.59,1.29,115,155,40,112.7,153.2,40.5,77,-1.782,-4.527,2.745,,,,,,1.736,,89.89,0.00342006,0.0078125,0.116631,0.857735
8827,Q9GZU5,C,X,35,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.81,0.3,,,,,,,,,905,152,ENSG00000188937,ENST00000378220,CCDS14256.1,NYX,0.07,,,,,3.15496,16.55,Q9GZU5_C35X,C,X,35,CX,C35X,Special,Stop,5.07,5.71,0.64,121,132.5,11.5,108.5,141.9,33.4,,,,,,,,,,,,,0.0001044,0,0.00356026,0.988145
121,Q8IWY9,Q,L,107,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.83,0.28,,,,0.39,0.25,0.21,0.92,0.24,504,12,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.09,benign,0,tolerated,0.42,0.036076,4.201,Q8IWY9_Q107L,Q,L,107,QL,Q107L,Polar,Hydrophobic,6.24,9.71,3.47,146,131,-15,143.8,166.7,22.9,113,-2.58,-2.4,-0.18,,,,,,33.359,33.359,59.9,0.000119857,0,0.00474007,1.0014
123,Q8IWY9,R,H,129,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.83,0.24,,,,0.01,0.01,0.02,0.004,0.001,570,78,ENSG00000140326,ENST00000356231,CCDS32209.1,CDAN1,0.11,probably_damaging,0.94,tolerated,0.13,4.25835,22.2,Q8IWY9_R129H,R,H,129,RH,R129H,PositiveCharge,PositiveCharge,6.34,7.59,1.25,174,155,-19,173.4,153.2,-20.2,29,-2.156,-4.413,2.257,,,,,,2.178,,88.59,0.000147628,0,0.00583838,0.885235
229,P21817,A,D,4324,CodingTranscript,NON_SYNONYMOUS,7,missense,benign,0.83,0.36,,,,,,,,,131620,22245,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,0.86,,,,,2.23879,13.44,P21817_A4324D,A,D,4324,AD,A4324D,Hydrophobic,negativeCharge,6,5.05,-0.95,89,133,44,88.6,111.1,22.5,126,,,,,,,,,,,,,,,0.946202
2511,Q86U42,G,A,12,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.83,0.32,,,,,,,,,40,1982,ENSG00000100836,ENST00000216727,CCDS9592.1,PABPN1,0.04,,,tolerated,0.39,2.18031,13.25,Q86U42_G12A,G,A,12,GA,G12A,Special,Hydrophobic,3.29,6,2.71,75,89,14,60.1,88.6,28.5,60,-1.741,-2.926,1.185,,,,,,3.418,,75.16,0.000659564,0,0.0224925,0.978373
3393,O95822,M,T,40,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.83,0.38,,,,,,,,,137,16920,ENSG00000103150,ENST00000262430,CCDS42206.1,MLYCD,0.08,benign,0.13,deleterious,0.01,3.21284,16.76,O95822_M40T,M,T,40,MT,M40T,Hydrophobic,Polar,5.74,5.6,-0.14,149,119,-30,162.9,116.1,-46.8,81,-1.774,-3.255,1.481,,,,,,3.577,,71.4,,,,1.00329
7295,O95278,W,G,32,CodingTranscript,NON_SYNONYMOUS,7,missense,pathogenic,0.83,0.29,,,,,,,,,148,110034,ENSG00000112425,ENST00000367519,CCDS5206.1,EPM2A,0.1,probably_damaging,0.999,deleterious,0,2.22361,13.39,O95278_W32G,W,G,32,WG,W32G,Hydrophobic,Special,5.89,3.29,-2.6,204,75,-129,227.8,60.1,-167.7,184,-1.695,-3.135,1.44,,,,,,2.379,,71.3,0.0019145,0,0.0652883,1.01256
7345,Q15672,Q,X,71,CodingTranscript,STOP_GAINED,8,stop_gained,pathogenic,0.86,0.4,,,,,,,,,8,1643,ENSG00000122691,ENST00000242261,CCDS5367.1,TWIST1,0.35,,,,,6.38863,37,Q15672_Q71X,Q,X,71,QX,Q71X,Polar,Stop,6.24,5.71,-0.53,146,132.5,-13.5,143.8,141.9,-1.9,,,,,,,,,,,,,0.000625369,0,0.0213264,0.98231
141,Q9NZV5,M,V,1,CodingTranscript,NON_SYNONYMOUS,7,initiator_codon,pathogenic,0.89,0.36,,,,,,,,,38,17991,ENSG00000162430,ENST00000361547,CCDS41282.1,SEPN1,0,,,deleterious,0,3.57677,18.22,Q9NZV5_M1V,M,V,1,MV,M1V,Hydrophobic,Hydrophobic,5.74,5.61,-0.13,149,117,-32,162.9,140,-22.9,21,-1.998,-2.535,0.537,,,,,,,,,0.000336268,0,0.0114674,0.978267
76,Q96RK4,I,V,49,CodingTranscript,NON_SYNONYMOUS,7,missense_NMD,benign,0.36,,,,,,,,,,8444,21658,ENSG00000140463,ENST00000563600,,BBS4,18,,,,,-0.049352,3.762,Q96RK4_I49V,I,V,49,IV,I49V,Hydrophobic,Hydrophobic,6.02,5.61,-0.41,131,117,-14,166.7,140,-26.7,29,,,,,,,,,,,,0.002102,0,0.0831296,0.986466
154,Q13148,A,V,90,CodingTranscript,NON_SYNONYMOUS,7,missense_NMD,benign,0.37,,0,0,0,,,,,,3158,2000,ENSG00000120948,ENST00000473869,,TARDBP,,benign,0.071,tolerated,1,1.22806,9.981,Q13148_A90V,A,V,90,AV,A90V,Hydrophobic,Hydrophobic,6,5.61,-0.39,89,117,28,88.6,140,51.4,64,-2.174,-2.827,0.653,,,,,,9.495,9.495,87.92,0.00198508,0,0.0785057,1.00435
155,Q13148,D,E,65,CodingTranscript,NON_SYNONYMOUS,7,missense_NMD,benign,0.46,,,,,,,,,,206,4952,ENSG00000120948,ENST00000473869,,TARDBP,,benign,0.005,tolerated,0.86,0.705467,7.761,Q13148_D65E,D,E,65,DE,D65E,negativeCharge,negativeCharge,5.05,3.22,-1.83,133,147,14,111.1,138.4,27.3,45,-2.075,-2.079,0.004,,,,,,23.607,23.607,51.93,0.00206893,0,0.0818219,1.01222
188,P49748,L,F,17,CodingTranscript,NON_SYNONYMOUS,7,missense_NMD,benign,0.73,,0.022,0.064,0,0.02,,0.003,0.08,,18,644,ENSG00000072778,ENST00000322910,,ACADVL,,,,,,1.7473,11.8,P49748_L17F,L,F,17,LF,L17F,Hydrophobic,Hydrophobic,9.71,3.32,-6.39,131,165,34,166.7,189.9,23.2,22,-1.924,-2.403,0.479,,,,,,34.073,34.073,88.4,0.000139692,0,0.00552453,1.02338
356,P00387,P,A,70,CodingTranscript,NON_SYNONYMOUS,7,missense_NMD,benign,0.57,,0.094,0.275,0.001,0.07,,0.02,0.31,,5084,624,ENSG00000100243,ENST00000414587,,CYB5R3,17,,,,,1.03442,9.225,P00387_P70A,P,A,70,PA,P70A,Special,Hydrophobic,6.3,6,-0.3,115,89,-26,112.7,88.6,-24.1,27,,,,,,,,,,,,0.00502722,0,0.198816,0.966306
2,Q9Y487,R,Q,685,CodingTranscript,NON_SYNONYMOUS,7,missense_splice,benign,0.48,,0.007,0.022,0,0.01,,,0.03,,1232,6788,ENSG00000185344,ENST00000330342,CCDS9254.1,ATP6V0A2,2,benign,0.061,tolerated,0.48,2.62267,14.73,Q9Y487_R685Q,R,Q,685,RQ,R685Q,PositiveCharge,Polar,6.34,6.24,-0.1,174,146,-28,173.4,143.8,-29.6,43,-2.156,-2.768,0.612,,,,,,14.77,14.77,75.7,0.00275224,0,0.108845,1.00773
19,Q9NYJ7,L,P,218,CodingTranscript,NON_SYNONYMOUS,7,missense_splice,benign,0.62,,0.59,0.72,0.524,0.59,0.55,0.53,0.75,0.56,5154,4408,ENSG00000090932,ENST00000205143,CCDS12538.1,DLL3,1,benign,0,tolerated,1,-0.597997,1.326,Q9NYJ7_L218P,L,P,218,LP,L218P,Hydrophobic,Special,9.71,6.3,-3.41,131,115,-16,166.7,112.7,-54,98,-2.742,-2.584,-0.158,,,,,,43.149,43.149,87.86,0.00102936,0,0.040709,1.00623
37,Q9HC10,R,C,773,CodingTranscript,NON_SYNONYMOUS,7,missense_splice,benign,0.65,,0.016,0.021,0.013,0.01,,0.02,0.02,0.01,538,20301,ENSG00000115155,ENST00000403946,,OTOF,2,possibly_damaging,0.57,deleterious,0.02,4.11011,21.2,Q9HC10_R773C,R,C,773,RC,R773C,PositiveCharge,Special,6.34,5.07,-1.27,174,121,-53,173.4,108.5,-64.9,180,-1.996,-3.806,1.81,,,,,,6.462,6.462,77.92,,,,0.871734
80,Q96QU1,D,A,435,CodingTranscript,NON_SYNONYMOUS,7,missense_splice,benign,0.34,,0.132,0.131,0.132,0.34,0.86,0.25,0.12,0.12,605505,201105,ENSG00000150275,ENST00000437009,,PCDH15,2,probably_damaging,0.909,tolerated,0.36,3.13749,16.49,Q96QU1_D435A,D,A,435,DA,D435A,negativeCharge,Hydrophobic,5.05,6,0.95,133,89,-44,111.1,88.6,-22.5,126,-2.139,-2.703,0.564,,,,,,5.171,5.171,58.11,,,,0.915737
248,P21817,K,Q,4719,CodingTranscript,NON_SYNONYMOUS,7,missense_splice,benign,0.56,,,,,,,,,,142259,11606,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,3,,,,,2.79282,15.3,P21817_K4719Q,K,Q,4719,KQ,K4719Q,PositiveCharge,Polar,9.74,6.24,-3.5,146,146,0,168.6,143.8,-24.8,53,-0.829,-3.427,2.598,,,,,,,,,,,,0.780754
258,P21817,R,K,2939,CodingTranscript,NON_SYNONYMOUS,7,missense_splice,benign,0.62,,,,,,,,,,73252,80613,ENSG00000196218,ENST00000355481,CCDS42563.1,RYR1,1,benign,0.098,,,2.84337,15.47,P21817_R2939K,R,K,2939,RK,R2939K,PositiveCharge,PositiveCharge,6.34,9.74,3.4,174,146,-28,173.4,168.6,-4.8,26,-1.655,-2.41,0.755,0.397,.,A,1.14,-0.48,11.637,11.637,20.86,,,,0.905181
366,O95255,R,G,265,CodingTranscript,NON_SYNONYMOUS,7,missense_splice,benign,0.54,0.99,,,,,,,,,14706,6729,ENSG00000091262,ENST00000205557,CCDS10568.1,ABCC6,2,benign,0.001,tolerated,0.29,0.462455,6.511,O95255_R265G,R,G,265,RG,R265G,PositiveCharge,Special,6.34,3.29,-3.05,174,75,-99,173.4,60.1,-113.3,125,-2.21,-2.721,0.511,,,,,,40.605,40.605,54.96,0.000741438,0,0.0293223,0.952723