Supplementary table S5.2,,,,,,,,,,,,,,,,,,,,
Gene Name,Breast Cancer Driver,Effect,Severity,Genomic Location,Ref,Alt,Amino Acid,cDNA Location,Alt Tumour,VAF Tumour,Tumour Depth,Alt Normal,VAF Normal,Normal Depth,Functional Class,All Mutation Changes,dbSNP,COSMIC,COSMIC IDs,CGC
AASDH,,NON_SYNONYMOUS_CODING,MODERATE,4:57216100,G,A,p.Ser121Leu,c.362G>A,14,0.368,38,0,0,110,MISSENSE,p.Ser121Leu/c.362G>A:p.Ser453Leu/c.1358G>A:p.Ser506Leu/c.1517G>A:p.Ser606Leu/c.1817G>A,.,NA,NA,NA
ABCC4,,SYNONYMOUS_CODING,LOW,13:95735425,C,G,p.Thr838Thr,c.2514C>G,28,0.237,118,0,0,131,SILENT,p.Thr838Thr/c.2514C>G:p.Thr885Thr/c.2655C>G,.,NA,NA,NA
ABL1,,NON_SYNONYMOUS_CODING,MODERATE,9:133760322,C,G,p.Ser882Cys,c.2645C>G,19,0.306,62,0,0,83,MISSENSE,p.Ser882Cys/c.2645C>G:p.Ser901Cys/c.2702C>G,.,NA,NA,Y
AC008676.1,,SYNONYMOUS_CODING,LOW,5:156803935,G,A,p.Leu42Leu,c.126G>A,40,0.225,178,0,0,102,SILENT,p.Leu42Leu/c.126G>A,.,NA,NA,NA
ACRBP,,SYNONYMOUS_CODING,LOW,12:6749635,G,A,p.Phe344Phe,c.1032G>A,23,0.147,156,1,0.007,137,SILENT,p.Phe344Phe/c.1032G>A:p.Phe377Phe/c.1131G>A,.,NA,NA,NA
AGR2,,SYNONYMOUS_CODING,LOW,7:16832556,G,C,p.Leu168Leu,c.504G>C,41,0.225,182,0,0,140,SILENT,p.Leu168Leu/c.504G>C:p.Leu188Leu/c.564G>C,.,NA,NA,NA
AKT3,,NON_SYNONYMOUS_CODING,MODERATE,1:243668570,G,C,p.Ser474Cys,c.1421G>C,30,0.13,230,0,0,153,MISSENSE,p.Ser474Cys/c.1421G>C,.,NA,NA,NA
AL136218.1,,SYNONYMOUS_CODING,LOW,13:50008256,G,A,p.Phe52Phe,c.156G>A,40,0.128,313,0,0,289,SILENT,p.Phe52Phe/c.156G>A,.,NA,NA,NA
ANO7,,SYNONYMOUS_CODING,LOW,2:242141692,C,T,p.Val285Val,c.855C>T,17,0.157,108,0,0,85,SILENT,p.Val285Val/c.855C>T:p.Val286Val/c.858C>T,.,NA,NA,NA
ANO9,,NON_SYNONYMOUS_CODING,MODERATE,11:433351,C,T,p.Glu105Lys,c.313C>T,42,0.22,191,0,0,94,MISSENSE,p.Glu105Lys/c.313C>T,.,NA,NA,NA
AP003068.6,,SYNONYMOUS_CODING,LOW,11:64856471,G,A,p.Phe11Phe,c.33G>A,21,0.193,109,0,0,69,SILENT,p.Phe11Phe/c.33G>A:p.Phe9Phe/c.27G>A,.,NA,NA,NA
AP1S3,,NON_SYNONYMOUS_CODING,MODERATE,2:224642503,C,G,p.Lys29Asn,c.87C>G,36,0.235,153,0,0,145,MISSENSE,p.Lys29Asn/c.87C>G,.,NA,NA,NA
APOB,,NON_SYNONYMOUS_CODING,MODERATE,2:21231033,G,C,p.Gln2903Glu,c.8707G>C,32,0.234,137,0,0,221,MISSENSE,p.Gln2903Glu/c.8707G>C,.,NA,NA,NA
ARAP2,,NON_SYNONYMOUS_CODING,MODERATE,4:36212174,A,T,p.Ile442Asn,c.1325A>T,28,0.207,135,0,0,168,MISSENSE,p.Ile442Asn/c.1325A>T,rs180931907,NA,NA,NA
BCL2L11,,NON_SYNONYMOUS_CODING,MODERATE,2:111881646,G,A,p.Met108Ile,c.324G>A,10,0.127,79,0,0,69,MISSENSE,p.Met108Ile/c.324G>A:p.Met46Ile/c.138G>A:p.Met48Ile/c.144G>A,.,NA,NA,NA
BEST4,,SYNONYMOUS_CODING,LOW,1:45252220,C,T,p.Ala132Ala,c.396C>T,26,0.211,123,0,0,50,SILENT,p.Ala132Ala/c.396C>T,.,NA,NA,NA
BRAP,,NON_SYNONYMOUS_CODING,MODERATE,12:112123550,G,A,p.Ser16Leu,c.47G>A,86,0.203,423,0,0,231,MISSENSE,p.Ser16Leu/c.47G>A,.,NA,NA,NA
BRWD1,,NON_SYNONYMOUS_CODING,MODERATE,21:40587277,G,A,p.Ala1224Val,c.3671G>A,18,0.247,73,0,0,70,MISSENSE,p.Ala1224Val/c.3671G>A:p.Ala209Val/c.626G>A,.,NA,NA,NA
C11orf65,,NON_SYNONYMOUS_CODING,MODERATE,11:108277597,G,A,p.Pro108Ser,c.322G>A,10,0.27,37,0,0,48,MISSENSE,p.Pro108Ser/c.322G>A:p.Pro59Ser/c.175G>A:p.Pro90Ser/c.268G>A,.,NA,NA,NA
C19orf44,,SYNONYMOUS_CODING,LOW,19:16612317,C,T,p.Phe238Phe,c.714C>T,13,0.126,103,0,0,136,SILENT,p.Phe238Phe/c.714C>T,.,NA,NA,NA
C19orf73,,NON_SYNONYMOUS_CODING,MODERATE,19:49621991,G,A,p.Arg97Cys,c.289G>A,287,0.446,643,0,0,173,MISSENSE,p.Arg97Cys/c.289G>A,rs191174298,x2 ids,383954:383955,NA
C1orf35,,NON_SYNONYMOUS_CODING,MODERATE,1:228290222,C,T,p.Glu111Lys,c.331C>T,32,0.221,145,0,0,60,MISSENSE,p.Glu111Lys/c.331C>T,.,NA,NA,NA
C22orf24,,NON_SYNONYMOUS_CODING,MODERATE,22:32330391,G,A,p.His133Tyr,c.397G>A,11,0.18,61,0,0,57,MISSENSE,p.His133Tyr/c.397G>A:p.His66Tyr/c.196G>A,.,NA,NA,NA
C22orf24,,SYNONYMOUS_CODING,LOW,22:32330401,G,A,p.Ile129Ile,c.387G>A,11,0.193,57,0,0,58,SILENT,p.Ile129Ile/c.387G>A:p.Ile62Ile/c.186G>A,.,NA,NA,NA
C7orf10,,NON_SYNONYMOUS_CODING,MODERATE,7:40174628,G,A,p.Asp5Asn,c.13G>A,60,0.251,239,0,0,117,MISSENSE,p.Asp5Asn/c.13G>A,.,NA,NA,NA
CAMK4,,NON_SYNONYMOUS_CODING,MODERATE,5:110712636,G,C,p.Asp128His,c.382G>C,39,0.201,194,0,0,208,MISSENSE,p.Asp128His/c.382G>C,.,1486205,1486205,NA
CARD11,,SYNONYMOUS_CODING,LOW,7:2962895,C,T,p.Leu142Leu,c.426C>T,33,0.256,129,0,0,70,SILENT,p.Leu142Leu/c.426C>T:p.Leu671Leu/c.2013C>T,.,NA,NA,Y
CARD11,,NON_SYNONYMOUS_CODING,MODERATE,7:2987418,C,G,p.Gly4Ala,c.11C>G,10,0.128,78,0,0,92,MISSENSE,p.Gly4Ala/c.11C>G,.,NA,NA,Y
CBL,,NON_SYNONYMOUS_CODING,MODERATE,11:119146768,G,A,p.Asp311Asn,c.931G>A,14,0.151,93,0,0,111,MISSENSE,p.Asp311Asn/c.931G>A,.,NA,NA,Y
CCDC108,,NON_SYNONYMOUS_CODING,MODERATE,2:219878753,G,C,p.Pro1206Ala,c.3616G>C,28,0.301,93,0,0,84,MISSENSE,p.Pro1206Ala/c.3616G>C,.,NA,NA,NA
CCDC30,,NON_SYNONYMOUS_CODING,MODERATE,1:43108265,C,A,p.Ser376Tyr,c.1127C>A,24,0.173,139,0,0,165,MISSENSE,p.Ser376Tyr/c.1127C>A:p.Ser587Tyr/c.1760C>A,.,NA,NA,NA
CD1A,,SYNONYMOUS_CODING,LOW,1:158227281,G,A,p.Ala318Ala,c.954G>A,57,0.385,148,0,0,147,SILENT,p.Ala318Ala/c.954G>A,.,290108,290108,NA
CD22,,NON_SYNONYMOUS_CODING,MODERATE,19:35827146,C,T,p.Ser207Phe,c.620C>T,33,0.219,151,0,0,156,MISSENSE,p.Ser207Phe/c.620C>T:p.Ser35Phe/c.104C>T:p.Ser87Phe/c.260C>T,.,NA,NA,NA
CD97,,SYNONYMOUS_CODING,LOW,19:14517879,G,A,p.Leu645Leu,c.1935G>A,46,0.305,151,0,0,108,SILENT,p.Leu645Leu/c.1935G>A:p.Leu689Leu/c.2067G>A:p.Leu738Leu/c.2214G>A,.,NA,NA,NA
CDC6,,NON_SYNONYMOUS_CODING,MODERATE,17:38447539,G,C,p.Gln136His,c.408G>C,33,0.15,220,0,0,202,MISSENSE,p.Gln136His/c.408G>C,.,NA,NA,NA
CDH4,,NON_SYNONYMOUS_CODING,MODERATE,20:60318693,G,C,p.Asp82His,c.244G>C,33,0.112,294,0,0,234,MISSENSE,p.Asp82His/c.244G>C:p.Asp8His/c.22G>C,.,NA,NA,NA
CDHR1,,NON_SYNONYMOUS_CODING,MODERATE,10:85972144,G,A,p.Gly292Glu,c.875G>A,11,0.224,49,0,0,67,MISSENSE,p.Gly292Glu/c.875G>A:p.Gly588Glu/c.1763G>A,.,NA,NA,NA
CDKN2A,Y,NON_SYNONYMOUS_CODING,MODERATE,9:21994366,C,T,p.Ala30Thr,c.88C>T,106,0.306,346,0,0,144,MISSENSE,p.Ala30Thr/c.88C>T,.,NA,NA,Y
CDKN2A,Y,NON_SYNONYMOUS_CODING,MODERATE,9:21994372,C,T,p.Gly28Ser,c.82C>T,100,0.307,326,0,0,125,MISSENSE,p.Gly28Ser/c.82C>T,.,NA,NA,Y
CELSR3,,SYNONYMOUS_CODING,LOW,3:48696378,G,T,p.Leu1230Leu,c.3690G>T,18,0.165,109,0,0,117,SILENT,p.Leu1230Leu/c.3690G>T,.,NA,NA,NA
CEP192,,NON_SYNONYMOUS_CODING,MODERATE,18:13056401,C,T,p.Ser1012Leu,c.3035C>T,48,0.19,253,0,0,220,MISSENSE,p.Ser1012Leu/c.3035C>T:p.Ser1271Leu/c.3812C>T:p.Ser675Leu/c.2024C>T:p.Ser796Leu/c.2387C>T:p.Ser809Leu/c.2426C>T,.,NA,NA,NA
CHST7,,NON_SYNONYMOUS_CODING,MODERATE,X:46433974,C,G,p.Ser203Trp,c.608C>G,26,0.157,166,0,0,104,MISSENSE,p.Ser203Trp/c.608C>G,.,NA,NA,NA
CHTF18,,"START_GAINED,SYNONYMOUS_CODING",LOW,16:838675,C,T,-,-,89,0.259,344,0,0,130,"-,SILENT",-/-:p.Leu194Leu/c.582C>T,rs374388528,NA,NA,NA
CIZ1,,NON_SYNONYMOUS_CODING,MODERATE,9:130941585,C,T,p.Glu200Lys,c.598C>T,52,0.186,279,0,0,180,MISSENSE,p.Glu200Lys/c.598C>T:p.Glu223Lys/c.667C>T:p.Glu272Lys/c.814C>T:p.Glu277Lys/c.829C>T:p.Glu301Lys/c.901C>T,.,NA,NA,NA
CIZ1,,NON_SYNONYMOUS_CODING,MODERATE,9:130941690,C,T,p.Glu165Lys,c.493C>T,16,0.2,80,0,0,91,MISSENSE,p.Glu165Lys/c.493C>T:p.Glu188Lys/c.562C>T:p.Glu237Lys/c.709C>T:p.Glu242Lys/c.724C>T:p.Glu266Lys/c.796C>T,.,NA,NA,NA
CLPB,,NON_SYNONYMOUS_CODING,MODERATE,11:72145270,G,C,p.Arg3Gly,c.7G>C,30,0.144,209,0,0,95,MISSENSE,p.Arg3Gly/c.7G>C:p.Arg53Gly/c.157G>C,rs200845330,x2 ids,1510106:1510107,NA
CNOT10,,NON_SYNONYMOUS_CODING,MODERATE,3:32769243,C,T,p.Leu138Phe,c.412C>T,49,0.366,134,0,0,192,MISSENSE,p.Leu138Phe/c.412C>T:p.Leu366Phe/c.1096C>T:p.Leu426Phe/c.1276C>T,.,NA,NA,NA
CNTNAP2,,NON_SYNONYMOUS_CODING,MODERATE,7:148112627,G,C,p.Glu1305Asp,c.3915G>C,90,0.206,437,0,0,236,MISSENSE,p.Glu1305Asp/c.3915G>C:p.Glu364Asp/c.1092G>C,.,NA,NA,NA
CPSF3L,,SYNONYMOUS_CODING,LOW,1:1247401,G,A,p.Tyr320Tyr,c.960G>A,30,0.229,131,0,0,65,SILENT,p.Tyr320Tyr/c.960G>A:p.Tyr477Tyr/c.1431G>A:p.Tyr480Tyr/c.1440G>A:p.Tyr549Tyr/c.1647G>A:p.Tyr556Tyr/c.1668G>A:p.Tyr578Tyr/c.1734G>A:p.Tyr584Tyr/c.1752G>A,.,NA,NA,NA
CPSF3L,,SYNONYMOUS_CODING,LOW,1:1248321,G,C,p.Val122Val,c.366G>C,106,0.225,472,0,0,218,SILENT,p.Val122Val/c.366G>C:p.Val279Val/c.837G>C:p.Val282Val/c.846G>C:p.Val351Val/c.1053G>C:p.Val358Val/c.1074G>C:p.Val380Val/c.1140G>C:p.Val386Val/c.1158G>C,.,NA,NA,NA
CPXM1,,NON_SYNONYMOUS_CODING,MODERATE,20:2778892,C,G,p.Glu166Gln,c.496C>G,33,0.21,157,0,0,160,MISSENSE,p.Glu166Gln/c.496C>G,.,366379,366379,NA
CREBBP,Y,NON_SYNONYMOUS_CODING,MODERATE,16:3778083,G,A,p.Ser2284Leu,c.6851G>A,50,0.26,192,0,0,126,MISSENSE,p.Ser2284Leu/c.6851G>A:p.Ser2322Leu/c.6965G>A,.,NA,NA,Y
CRTAC1,,NON_SYNONYMOUS_CODING,MODERATE,10:99661321,C,T,p.Glu254Lys,c.760C>T,45,0.273,165,0,0,136,MISSENSE,p.Glu254Lys/c.760C>T:p.Glu350Lys/c.1048C>T:p.Glu358Lys/c.1072C>T,.,NA,NA,NA
CSMD2,,NON_SYNONYMOUS_CODING,MODERATE,1:34166171,C,G,p.Asp100His,c.298C>G,14,0.114,123,0,0,103,MISSENSE,p.Asp100His/c.298C>G:p.Asp1227His/c.3679C>G,.,NA,NA,NA
CTD-2192J16.17,,SYNONYMOUS_CODING,LOW,19:12576037,G,A,p.Phe233Phe,c.699G>A,43,0.239,180,0,0,170,SILENT,p.Phe233Phe/c.699G>A,.,NA,NA,NA
ZNF709,,SYNONYMOUS_CODING,LOW,19:12576037,G,A,p.Phe233Phe,c.699G>A,43,0.239,180,0,0,170,SILENT,p.Phe233Phe/c.699G>A,.,NA,NA,NA
CTD-3148I10.1,,NON_SYNONYMOUS_CODING,MODERATE,19:49930856,G,C,p.Arg390Pro,c.1169G>C,29,0.227,128,0,0,60,MISSENSE,p.Arg390Pro/c.1169G>C,.,NA,NA,NA
CTR9,,NON_SYNONYMOUS_CODING,MODERATE,11:10785695,G,C,p.Asp411His,c.1231G>C,39,0.151,258,0,0,223,MISSENSE,p.Asp411His/c.1231G>C,.,1350682,1350682,NA
CTTNBP2,,NON_SYNONYMOUS_CODING,MODERATE,7:117431695,C,T,p.Gly47Ser,c.139C>T,44,0.202,218,0,0,187,MISSENSE,p.Gly47Ser/c.139C>T:p.Gly519Ser/c.1555C>T,.,NA,NA,NA
CYB5R4,,NON_SYNONYMOUS_CODING,MODERATE,6:84603276,C,T,p.His55Tyr,c.163C>T,39,0.339,115,0,0,181,MISSENSE,p.His55Tyr/c.163C>T:p.His89Tyr/c.265C>T,rs267601144,NA,NA,NA
CYP2A13,,SYNONYMOUS_CODING,LOW,19:41601807,G,A,p.Thr482Thr,c.1446G>A,44,0.169,260,0,0,216,SILENT,p.Thr482Thr/c.1446G>A,.,996923,996923,NA
DBX2,,SYNONYMOUS_CODING,LOW,12:45444642,G,A,p.Leu23Leu,c.69G>A,30,0.179,168,0,0,110,SILENT,p.Leu23Leu/c.69G>A,.,NA,NA,NA
DCAF4L1,,SYNONYMOUS_CODING,LOW,4:41984160,C,T,p.Leu117Leu,c.351C>T,12,0.039,308,0,0,264,SILENT,p.Leu117Leu/c.351C>T,.,NA,NA,NA
DCDC2B,,NON_SYNONYMOUS_CODING,MODERATE,1:32678234,G,T,p.Cys224Phe,c.671G>T,48,0.2,240,0,0,140,MISSENSE,p.Cys224Phe/c.671G>T,.,NA,NA,NA
DEGS2,,SYNONYMOUS_CODING,LOW,14:100615353,G,A,p.His259His,c.777G>A,56,0.249,225,0,0,134,SILENT,p.His259His/c.777G>A,rs368799597,NA,NA,NA
DIS3L,,NON_SYNONYMOUS_CODING,MODERATE,15:66587466,C,G,p.Gln11Glu,c.31C>G,48,0.187,257,0,0,173,MISSENSE,p.Gln11Glu/c.31C>G:p.Gln94Glu/c.280C>G,.,NA,NA,NA
DMP1,,NON_SYNONYMOUS_CODING,MODERATE,4:88583189,C,G,p.Leu71Val,c.211C>G,12,0.188,64,0,0,84,MISSENSE,p.Leu71Val/c.211C>G:p.Leu87Val/c.259C>G,.,NA,NA,NA
DMXL2,,SYNONYMOUS_CODING,LOW,15:51741286,G,A,p.Ile1148Ile,c.3444G>A,31,0.159,195,0,0,188,SILENT,p.Ile1148Ile/c.3444G>A:p.Ile2366Ile/c.7098G>A:p.Ile3002Ile/c.9006G>A:p.Ile3003Ile/c.9009G>A,.,NA,NA,NA
DNAH11,,NON_SYNONYMOUS_CODING,MODERATE,7:21640680,G,C,p.Arg1103Thr,c.3308G>C,20,0.247,81,0,0,116,MISSENSE,p.Arg1103Thr/c.3308G>C,.,NA,NA,NA
DNAH12,,NON_SYNONYMOUS_CODING,MODERATE,3:57386170,G,A,p.Ser2338Leu,c.7013G>A,24,0.429,56,1,0.011,91,MISSENSE,p.Ser2338Leu/c.7013G>A:p.Ser28Leu/c.83G>A:p.Ser29Leu/c.86G>A,.,NA,NA,NA
DNAH17,,NON_SYNONYMOUS_CODING,MODERATE,17:76511050,C,G,p.Glu1303Gln,c.3907C>G,13,0.054,242,0,0,261,MISSENSE,p.Glu1303Gln/c.3907C>G:p.Glu1304Gln/c.3910C>G,.,NA,NA,NA
DNAH8,,NON_SYNONYMOUS_CODING,MODERATE,6:38743587,G,A,p.Glu391Lys,c.1171G>A,11,0.229,48,0,0,44,MISSENSE,p.Glu391Lys/c.1171G>A:p.Glu596Lys/c.1786G>A:p.Glu608Lys/c.1822G>A,.,NA,NA,NA
DNAH9,,SYNONYMOUS_CODING,LOW,17:11809080,C,T,p.Phe213Phe,c.639C>T,18,0.254,71,0,0,128,SILENT,p.Phe213Phe/c.639C>T:p.Phe3901Phe/c.11703C>T,.,NA,NA,NA
DNMBP,,NON_SYNONYMOUS_CODING,MODERATE,10:101648626,C,G,p.Glu1081Gln,c.3241C>G,11,0.157,70,0,0,90,MISSENSE,p.Glu1081Gln/c.3241C>G:p.Glu1105Gln/c.3313C>G:p.Glu17Gln/c.49C>G:p.Glu327Gln/c.979C>G,.,NA,NA,NA
DNMBP,,NON_SYNONYMOUS_CODING,MODERATE,10:101648656,C,G,p.Glu1071Gln,c.3211C>G,10,0.141,71,0,0,87,MISSENSE,p.Glu1071Gln/c.3211C>G:p.Glu1095Gln/c.3283C>G:p.Glu317Gln/c.949C>G:p.Glu7Gln/c.19C>G,.,NA,NA,NA
DOC2A,,NON_SYNONYMOUS_CODING,MODERATE,16:30018209,G,C,p.Leu259Val,c.775G>C,35,0.199,176,0,0,108,MISSENSE,p.Leu259Val/c.775G>C:p.Leu95Val/c.283G>C,.,NA,NA,NA
DOCK10,,NON_SYNONYMOUS_CODING,MODERATE,2:225796328,C,G,p.Glu55Gln,c.163C>G,54,0.266,203,0,0,111,MISSENSE,p.Glu55Gln/c.163C>G:p.Glu61Gln/c.181C>G,.,NA,NA,NA
DTX3,,NON_SYNONYMOUS_CODING,MODERATE,12:58002372,G,A,p.Glu274Lys,c.820G>A,37,0.18,206,0,0,149,MISSENSE,p.Glu274Lys/c.820G>A:p.Glu277Lys/c.829G>A:p.Glu62Lys/c.184G>A,.,1476788,1476788,NA
DUSP28,,NON_SYNONYMOUS_CODING,MODERATE,2:241500774,G,A,p.Glu141Lys,c.421G>A,49,0.162,302,0,0,120,MISSENSE,p.Glu141Lys/c.421G>A,.,NA,NA,NA
DYNC1H1,,NON_SYNONYMOUS_CODING,MODERATE,14:102494428,C,T,p.Arg3140Trp,c.9418C>T,18,0.188,96,0,0,97,MISSENSE,p.Arg3140Trp/c.9418C>T,.,NA,NA,NA
EIF2B4,,NON_SYNONYMOUS_CODING,MODERATE,2:27593157,G,A,p.Arg9Cys,c.25G>A,87,0.256,340,0,0,111,MISSENSE,p.Arg9Cys/c.25G>A,rs368043444,NA,NA,NA
EIF2D,,SYNONYMOUS_CODING,LOW,1:206772404,G,A,p.Val291Val,c.873G>A,30,0.152,198,0,0,110,SILENT,p.Val291Val/c.873G>A:p.Val415Val/c.1245G>A,.,NA,NA,NA
ENPP6,,SYNONYMOUS_CODING,LOW,4:185018435,G,A,p.Leu360Leu,c.1080G>A,19,0.173,110,0,0,75,SILENT,p.Leu360Leu/c.1080G>A,rs372564235,NA,NA,NA
ERAP1,,SYNONYMOUS_CODING,LOW,5:96116836,G,C,p.Leu16Leu,c.48G>C,32,0.221,145,0,0,133,SILENT,p.Leu16Leu/c.48G>C:p.Leu838Leu/c.2514G>C,.,NA,NA,NA
FAM155A,,NON_SYNONYMOUS_CODING,MODERATE,13:108518568,G,A,p.Ser126Phe,c.377G>A,17,0.459,37,0,0,42,MISSENSE,p.Ser126Phe/c.377G>A,.,NA,NA,NA
FAM65C,,SYNONYMOUS_CODING,LOW,20:49226185,G,A,p.Phe163Phe,c.489G>A,23,0.165,139,0,0,74,SILENT,p.Phe163Phe/c.489G>A:p.Phe167Phe/c.501G>A,.,NA,NA,NA
FAM83H,,NON_SYNONYMOUS_CODING,MODERATE,8:144809914,C,T,p.Glu573Lys,c.1717C>T,12,0.24,50,0,0,19,MISSENSE,p.Glu573Lys/c.1717C>T,.,NA,NA,NA
FANCB,,NON_SYNONYMOUS_CODING,MODERATE,X:14862809,G,C,p.Gln661Glu,c.1981G>C,37,0.287,129,0,0,181,MISSENSE,p.Gln661Glu/c.1981G>C,.,NA,NA,NA
FAT3,,SYNONYMOUS_CODING,LOW,11:92532965,C,T,p.Asp2112Asp,c.6336C>T,38,0.268,142,0,0,203,SILENT,p.Asp2112Asp/c.6336C>T:p.Asp2262Asp/c.6786C>T,rs139617275,NA,NA,NA
FAT4,,NON_SYNONYMOUS_CODING,MODERATE,4:126238663,C,T,p.Ser366Leu,c.1097C>T,61,0.188,324,0,0,226,MISSENSE,p.Ser366Leu/c.1097C>T,.,NA,NA,NA
FBXL20,,START_GAINED,LOW,17:37557693,G,A,-,-,31,0.189,164,0,0,60,-,-/-,.,NA,NA,NA
FERMT2,,SYNONYMOUS_CODING,LOW,14:53347793,G,A,p.Leu225Leu,c.675G>A,53,0.202,263,0,0,210,SILENT,p.Leu225Leu/c.675G>A:p.Leu272Leu/c.816G>A,.,NA,NA,NA
FLOT1,,SYNONYMOUS_CODING,LOW,6:30708312,C,G,p.Arg114Arg,c.342C>G,11,0.141,78,1,0.021,47,SILENT,p.Arg114Arg/c.342C>G:p.Arg129Arg/c.387C>G:p.Arg161Arg/c.483C>G:p.Arg177Arg/c.531C>G:p.Arg82Arg/c.246C>G,.,NA,NA,NA
FSIP2,,SYNONYMOUS_CODING,LOW,2:186678514,C,G,p.Val6690Val,c.20070C>G,37,0.285,130,0,0,116,SILENT,p.Val6690Val/c.20070C>G:p.Val6779Val/c.20337C>G,rs201058757,NA,NA,NA
GART,,NON_SYNONYMOUS_CODING,MODERATE,21:34882163,C,A,p.Lys345Asn,c.1035C>A,37,0.242,153,0,0,191,MISSENSE,p.Lys345Asn/c.1035C>A:p.Lys57Asn/c.171C>A:p.Lys793Asn/c.2379C>A,rs79895797,NA,NA,NA
GMEB2,,SYNONYMOUS_CODING,LOW,20:62229142,C,T,p.Lys143Lys,c.429C>T,36,0.226,159,0,0,129,SILENT,p.Lys143Lys/c.429C>T:p.Lys92Lys/c.276C>T,.,NA,NA,NA
GNAL,,START_LOST,HIGH,18:11753842,G,A,p.Met1?,c.3G>A,25,0.205,122,0,0,165,MISSENSE,p.Met1?/c.3G>A,.,NA,NA,NA
GNAS,Y,NON_SYNONYMOUS_CODING,MODERATE,20:57428722,C,T,p.Ser71Leu,c.212C>T,36,0.319,113,0,0,120,MISSENSE,p.Ser71Leu/c.212C>T,.,NA,NA,Y
GPR132,,SYNONYMOUS_CODING,LOW,14:105518216,G,C,p.Leu77Leu,c.231G>C,33,0.216,153,0,0,151,SILENT,p.Leu77Leu/c.231G>C:p.Leu86Leu/c.258G>C,.,NA,NA,NA
HECTD1,,NON_SYNONYMOUS_CODING,MODERATE,14:31576206,C,T,p.Arg2291Gln,c.6872C>T,36,0.29,124,0,0,191,MISSENSE,p.Arg2291Gln/c.6872C>T:p.Arg656Gln/c.1967C>T,.,NA,NA,NA
HELQ,,SYNONYMOUS_CODING,LOW,4:84358097,G,C,p.Leu587Leu,c.1761G>C,12,0.15,80,0,0,101,SILENT,p.Leu587Leu/c.1761G>C:p.Leu654Leu/c.1962G>C,.,NA,NA,NA
HELQ,,NON_SYNONYMOUS_CODING,MODERATE,4:84358132,G,A,p.His576Tyr,c.1726G>A,28,0.235,119,0,0,132,MISSENSE,p.His576Tyr/c.1726G>A:p.His643Tyr/c.1927G>A,.,NA,NA,NA
HHEX,,NON_SYNONYMOUS_CODING,MODERATE,10:94449845,C,G,p.Ile34Met,c.102C>G,20,0.09,223,0,0,107,MISSENSE,p.Ile34Met/c.102C>G,.,NA,NA,NA
HIPK4,,NON_SYNONYMOUS_CODING,MODERATE,19:40886994,G,C,p.Arg302Gly,c.904G>C,87,0.412,211,0,0,129,MISSENSE,p.Arg302Gly/c.904G>C,.,128160,128160,NA
HIVEP2,,SYNONYMOUS_CODING,LOW,6:143095621,T,A,p.Pro85Pro,c.255T>A,110,0.248,443,0,0,311,SILENT,p.Pro85Pro/c.255T>A,.,NA,NA,NA
HLCS,,NON_SYNONYMOUS_CODING,MODERATE,21:38128985,G,T,p.Gln623Lys,c.1867G>T,57,0.317,180,0,0,146,MISSENSE,p.Gln623Lys/c.1867G>T,.,NA,NA,NA
HMCN1,,NON_SYNONYMOUS_CODING,MODERATE,1:186097220,C,G,p.Ser4234Cys,c.12701C>G,22,0.195,113,0,0,119,MISSENSE,p.Ser4234Cys/c.12701C>G,rs370953193,NA,NA,NA
HMGB2,,SYNONYMOUS_CODING,LOW,4:174254744,G,A,p.Phe19Phe,c.57G>A,30,0.043,703,0,0,294,SILENT,p.Phe19Phe/c.57G>A,.,420114,420114,NA
HRC,,NON_SYNONYMOUS_CODING,MODERATE,19:49657657,C,G,p.Glu280Gln,c.838C>G,18,0.148,122,0,0,81,MISSENSE,p.Glu280Gln/c.838C>G,.,NA,NA,NA
HSD3B7,,NON_SYNONYMOUS_CODING,MODERATE,16:30998297,C,T,p.Ser223Phe,c.668C>T,11,0.054,202,0,0,102,MISSENSE,p.Ser223Phe/c.668C>T,.,NA,NA,NA
INTU,,SYNONYMOUS_CODING,LOW,4:128632236,C,T,p.Phe846Phe,c.2538C>T,24,0.24,100,0,0,143,SILENT,p.Phe846Phe/c.2538C>T,.,NA,NA,NA
IPO7,,STOP_GAINED,HIGH,11:9459367,C,T,p.Arg779*,c.2335C>T,10,0.13,77,1,0.016,62,NONSENSE,p.Arg779*/c.2335C>T,.,NA,NA,NA
IQCE,,SYNONYMOUS_CODING,LOW,7:2627487,G,A,p.Leu147Leu,c.441G>A,41,0.189,217,0,0,121,SILENT,p.Leu147Leu/c.441G>A:p.Leu275Leu/c.825G>A:p.Leu289Leu/c.867G>A:p.Leu324Leu/c.972G>A:p.Leu340Leu/c.1020G>A,.,NA,NA,NA
JUND,,NON_SYNONYMOUS_CODING,MODERATE,19:18392069,C,A,p.Asp76Tyr,c.226C>A,27,0.171,158,0,0,33,MISSENSE,p.Asp76Tyr/c.226C>A,.,NA,NA,NA
KCNH4,,NON_SYNONYMOUS_CODING,MODERATE,17:40317573,C,G,p.Arg660Pro,c.1979C>G,34,0.21,162,0,0,148,MISSENSE,p.Arg660Pro/c.1979C>G,.,NA,NA,NA
KCNH4,,SYNONYMOUS_CODING,LOW,17:40317614,C,G,p.Val646Val,c.1938C>G,52,0.265,196,0,0,215,SILENT,p.Val646Val/c.1938C>G,.,NA,NA,NA
KCNJ9,,NON_SYNONYMOUS_CODING,MODERATE,1:160054172,G,C,p.Glu118Gln,c.352G>C,67,0.142,472,0,0,203,MISSENSE,p.Glu118Gln/c.352G>C,.,NA,NA,NA
KCNMA1,,NON_SYNONYMOUS_CODING,MODERATE,10:78649309,C,T,p.Asp1000Asn,c.2998C>T,34,0.142,239,0,0,279,MISSENSE,p.Asp1000Asn/c.2998C>T:p.Asp1013Asn/c.3037C>T:p.Asp1051Asn/c.3151C>T:p.Asp1056Asn/c.3166C>T:p.Asp1058Asn/c.3172C>T:p.Asp1063Asn/c.3187C>T:p.Asp1090Asn/c.3268C>T:p.Asp1095Asn/c.3283C>T:p.Asp1104Asn/c.3310C>T:p.Asp1124Asn/c.3370C>T:p.Asp1125Asn/c.3373C>T:p.Asp770Asn/c.2308C>T,.,NA,NA,NA
KCTD5,,NON_SYNONYMOUS_CODING,MODERATE,16:2752373,C,G,p.Ser190Cys,c.569C>G,104,0.229,455,0,0,293,MISSENSE,p.Ser190Cys/c.569C>G,.,NA,NA,NA
KDELR1,,NON_SYNONYMOUS_CODING,MODERATE,19:48892875,C,G,p.Glu96Gln,c.286C>G,14,0.083,168,0,0,49,MISSENSE,p.Glu96Gln/c.286C>G,.,NA,NA,NA
KIAA0182,,SYNONYMOUS_CODING,LOW,16:85697021,G,A,p.Arg16Arg,c.48G>A,52,0.291,179,0,0,122,SILENT,p.Arg16Arg/c.48G>A:p.Arg621Arg/c.1863G>A:p.Arg711Arg/c.2133G>A:p.Arg742Arg/c.2226G>A:p.Arg815Arg/c.2445G>A,.,NA,NA,NA
KIAA0232,,NON_SYNONYMOUS_CODING,MODERATE,4:6862738,C,A,p.Ser210Tyr,c.629C>A,30,0.135,222,0,0,198,MISSENSE,p.Ser210Tyr/c.629C>A,.,NA,NA,NA
KIAA0232,,NON_SYNONYMOUS_CODING,MODERATE,4:6862768,C,T,p.Ser220Phe,c.659C>T,22,0.118,186,0,0,176,MISSENSE,p.Ser220Phe/c.659C>T,.,NA,NA,NA
KIAA1598,,NON_SYNONYMOUS_CODING,MODERATE,10:118666198,C,T,p.Glu414Lys,c.1240C>T,104,0.274,380,0,0,305,MISSENSE,p.Glu414Lys/c.1240C>T:p.Glu474Lys/c.1420C>T,.,NA,NA,Y
KIF13A,,STOP_GAINED,HIGH,6:17790105,G,A,p.Gln1087*,c.3259G>A,31,0.242,128,0,0,112,NONSENSE,p.Gln1087*/c.3259G>A:p.Gln1127*/c.3379G>A:p.Gln480*/c.1438G>A,.,NA,NA,NA
KIF26B,,NON_SYNONYMOUS_CODING,MODERATE,1:245850988,C,T,p.Ser1187Leu,c.3560C>T,24,0.128,188,0,0,134,MISSENSE,p.Ser1187Leu/c.3560C>T:p.Ser1568Leu/c.4703C>T,rs200000695,NA,NA,NA
KTN1,,SYNONYMOUS_CODING,LOW,14:56117106,C,G,p.Leu108Leu,c.324C>G,58,0.278,209,0,0,168,SILENT,p.Leu108Leu/c.324C>G:p.Leu117Leu/c.351C>G:p.Leu822Leu/c.2466C>G,.,NA,NA,Y
LGI3,,SYNONYMOUS_CODING,LOW,8:22006189,G,A,p.Thr353Thr,c.1059G>A,39,0.279,140,0,0,99,SILENT,p.Thr353Thr/c.1059G>A:p.Thr377Thr/c.1131G>A,.,NA,NA,NA
LILRB5,,SYNONYMOUS_CODING,LOW,19:54754671,G,A,p.Tyr485Tyr,c.1455G>A,46,0.4,115,0,0,57,SILENT,p.Tyr485Tyr/c.1455G>A:p.Tyr584Tyr/c.1752G>A:p.Tyr585Tyr/c.1755G>A,rs147283357,NA,NA,NA
LIN54,,NON_SYNONYMOUS_CODING,MODERATE,4:83867426,G,T,p.Gln164Lys,c.490G>T,35,0.216,162,0,0,166,MISSENSE,p.Gln164Lys/c.490G>T:p.Gln296Lys/c.886G>T:p.Gln385Lys/c.1153G>T,.,NA,NA,NA
LIPE,,SYNONYMOUS_CODING,LOW,19:42906225,C,G,p.Ala990Ala,c.2970C>G,25,0.184,136,0,0,43,SILENT,p.Ala990Ala/c.2970C>G,.,NA,NA,NA
LMX1A,,NON_SYNONYMOUS_CODING,MODERATE,1:165173175,C,G,p.Arg364Thr,c.1091C>G,11,0.125,88,0,0,81,MISSENSE,p.Arg364Thr/c.1091C>G,rs376073290,NA,NA,NA
LPHN2,,SYNONYMOUS_CODING,LOW,1:82452637,T,A,p.Thr1074Thr,c.3222T>A,51,0.142,359,0,0,266,SILENT,p.Thr1074Thr/c.3222T>A:p.Thr1108Thr/c.3324T>A:p.Thr1183Thr/c.3549T>A:p.Thr1185Thr/c.3555T>A:p.Thr1198Thr/c.3594T>A:p.Thr188Thr/c.564T>A,.,NA,NA,NA
LRRC27,,NON_SYNONYMOUS_CODING,MODERATE,10:134178955,G,C,p.Glu312Asp,c.936G>C,32,0.174,184,0,0,133,MISSENSE,p.Glu312Asp/c.936G>C:p.Glu377Asp/c.1131G>C:p.Glu439Asp/c.1317G>C,.,NA,NA,NA
LRRC39,,SYNONYMOUS_CODING,LOW,1:100618074,G,A,p.Val273Val,c.819G>A,13,0.14,93,0,0,118,SILENT,p.Val273Val/c.819G>A,.,NA,NA,NA
LRRC53,,NON_SYNONYMOUS_CODING,MODERATE,1:74946460,G,A,p.Ser94Phe,c.281G>A,10,0.208,48,0,0,64,MISSENSE,p.Ser94Phe/c.281G>A,.,NA,NA,NA
LRRC61,,NON_SYNONYMOUS_CODING,MODERATE,7:150034263,G,A,p.Ala105Thr,c.313G>A,52,0.202,258,0,0,167,MISSENSE,p.Ala105Thr/c.313G>A,.,1548721,1548721,NA
LRRIQ1,,NON_SYNONYMOUS_CODING,MODERATE,12:85638583,G,C,p.Arg1678Thr,c.5033G>C,13,0.169,77,0,0,67,MISSENSE,p.Arg1678Thr/c.5033G>C,.,NA,NA,NA
LY6H,,SYNONYMOUS_CODING,LOW,8:144239853,G,A,p.Phe100Phe,c.300G>A,82,0.353,232,0,0,196,SILENT,p.Phe100Phe/c.300G>A:p.Phe79Phe/c.237G>A,rs149200269,NA,NA,NA
MAP2K7,,NON_SYNONYMOUS_CODING,MODERATE,19:7976197,G,C,p.Trp306Cys,c.918G>C,37,0.333,111,0,0,101,MISSENSE,p.Trp306Cys/c.918G>C:p.Trp322Cys/c.966G>C:p.Trp348Cys/c.1044G>C,.,NA,NA,NA
MAPK3,,NON_SYNONYMOUS_CODING,MODERATE,16:30133151,C,T,p.Arg116Lys,c.347C>T,80,0.278,288,0,0,120,MISSENSE,p.Arg116Lys/c.347C>T:p.Arg2Lys/c.5C>T:p.Arg87Lys/c.260C>T,.,NA,NA,NA
MAPK3,,START_LOST,HIGH,16:30133153,C,T,p.Met1?,c.3C>T,80,0.274,292,0,0,119,MISSENSE,p.Met1?/c.3C>T,.,NA,NA,NA
MAPK8IP3,,SYNONYMOUS_CODING,LOW,16:1756505,C,A,p.Leu55Leu,c.165C>A,78,0.142,548,0,0,176,SILENT,p.Leu55Leu/c.165C>A,.,NA,NA,NA
MAPKBP1,,STOP_GAINED,HIGH,15:42115285,C,T,p.Gln1038*,c.3112C>T,55,0.282,195,0,0,89,NONSENSE,p.Gln1038*/c.3112C>T:p.Gln1155*/c.3463C>T:p.Gln1161*/c.3481C>T:p.Gln994*/c.2980C>T,.,NA,NA,NA
MARCKSL1,,STOP_GAINED,HIGH,1:32800290,C,A,p.Glu166*,c.496C>A,16,0.216,74,0,0,24,NONSENSE,p.Glu166*/c.496C>A,.,NA,NA,NA
MARCKSL1,,STOP_GAINED,HIGH,1:32800416,C,A,p.Glu124*,c.370C>A,18,0.234,77,0,0,40,NONSENSE,p.Glu124*/c.370C>A,.,NA,NA,NA
MASTL,,NON_SYNONYMOUS_CODING,MODERATE,10:27459678,C,T,p.Ser597Phe,c.1790C>T,29,0.266,109,0,0,158,MISSENSE,p.Ser597Phe/c.1790C>T,.,NA,NA,NA
MCM7,,SYNONYMOUS_CODING,LOW,7:99690648,G,A,p.Phe359Phe,c.1077G>A,47,0.135,347,1,0.006,155,SILENT,p.Phe359Phe/c.1077G>A:p.Phe513Phe/c.1539G>A:p.Phe689Phe/c.2067G>A,.,NA,NA,NA
MCPH1,,STOP_GAINED,HIGH,8:6299593,C,T,p.Gln148*,c.442C>T,56,0.195,287,0,0,289,NONSENSE,p.Gln148*/c.442C>T:p.Gln196*/c.586C>T,.,NA,NA,NA
MDN1,,SYNONYMOUS_CODING,LOW,6:90380641,C,T,p.Gln4651Gln,c.13953C>T,13,0.217,60,1,0.015,67,SILENT,p.Gln4651Gln/c.13953C>T,.,NA,NA,NA
MEGF6,,NON_SYNONYMOUS_CODING,MODERATE,1:3428625,G,C,p.Phe202Leu,c.606G>C,19,0.188,101,0,0,83,MISSENSE,p.Phe202Leu/c.606G>C:p.Phe307Leu/c.921G>C,.,NA,NA,NA
MEI1,,SYNONYMOUS_CODING,LOW,22:42141036,C,T,p.Leu242Leu,c.726C>T,12,0.273,44,0,0,40,SILENT,p.Leu242Leu/c.726C>T:p.Leu502Leu/c.1506C>T,.,NA,NA,NA
MEN1,Y,SYNONYMOUS_CODING,LOW,11:64577195,G,A,p.Leu129Leu,c.387G>A,74,0.256,289,0,0,193,SILENT,p.Leu129Leu/c.387G>A,.,x2 ids,429562:1298394,Y
METTL11B,,SYNONYMOUS_CODING,LOW,1:170135795,C,G,p.Val161Val,c.483C>G,28,0.246,114,0,0,87,SILENT,p.Val161Val/c.483C>G,.,NA,NA,NA
MKI67,,NON_SYNONYMOUS_CODING,MODERATE,10:129906282,C,G,p.Arg1274Ser,c.3822C>G,24,0.143,168,0,0,186,MISSENSE,p.Arg1274Ser/c.3822C>G:p.Arg914Ser/c.2742C>G,.,NA,NA,NA
MLL2,Y,NON_SYNONYMOUS_CODING,MODERATE,12:49433589,G,A,p.Ser2655Phe,c.7964G>A,34,0.228,149,0,0,158,MISSENSE,p.Ser2655Phe/c.7964G>A,.,NA,NA,NA
MLL2,Y,NON_SYNONYMOUS_CODING,MODERATE,12:49444834,C,T,p.Glu878Lys,c.2632C>T,13,0.11,118,0,0,124,MISSENSE,p.Glu878Lys/c.2632C>T,.,NA,NA,NA
MLL4,,NON_SYNONYMOUS_CODING,MODERATE,19:36222878,C,T,p.Ser1836Leu,c.5507C>T,54,0.227,238,0,0,142,MISSENSE,p.Ser1836Leu/c.5507C>T,.,995149,995149,NA
MLL4,,NON_SYNONYMOUS_CODING,MODERATE,19:36223685,C,T,p.Arg2079Trp,c.6235C>T,58,0.274,212,0,0,117,MISSENSE,p.Arg2079Trp/c.6235C>T,.,NA,NA,NA
MLL4,,NON_SYNONYMOUS_CODING,MODERATE,19:36224327,C,G,p.Pro2293Ala,c.6877C>G,21,0.15,140,0,0,77,MISSENSE,p.Pro2293Ala/c.6877C>G,rs187370444,NA,NA,NA
MMP25,,STOP_GAINED,HIGH,16:3100361,G,T,p.Glu159*,c.475G>T,67,0.258,260,0,0,203,NONSENSE,p.Glu159*/c.475G>T,.,NA,NA,NA
MUC16,,NON_SYNONYMOUS_CODING,MODERATE,19:9084506,G,A,p.Leu2437Phe,c.7309G>A,15,0.152,99,0,0,123,MISSENSE,p.Leu2437Phe/c.7309G>A,.,x2 ids,1004078:1004079,NA
MUC3A,,NON_SYNONYMOUS_CODING,MODERATE,7:100551392,C,T,p.Ser48Leu,c.143C>T,31,0.263,118,0,0,171,MISSENSE,p.Ser48Leu/c.143C>T,rs75008337,NA,NA,NA
MYH6,,STOP_GAINED,HIGH,14:23876300,C,A,p.Glu45*,c.133C>A,56,0.245,229,0,0,213,NONSENSE,p.Glu45*/c.133C>A,.,552684,552684,NA
MYO15A,,SYNONYMOUS_CODING,LOW,17:18034812,G,A,p.Gln1391Gln,c.4173G>A,30,0.411,73,0,0,109,SILENT,p.Gln1391Gln/c.4173G>A,.,NA,NA,NA
MYO18B,,NON_SYNONYMOUS_CODING,MODERATE,22:26400771,G,T,p.Met2140Ile,c.6420G>T,19,0.241,79,0,0,160,MISSENSE,p.Met2140Ile/c.6420G>T:p.Met2141Ile/c.6423G>T:p.Met89Ile/c.267G>T,.,NA,NA,NA
MYO5B,,SYNONYMOUS_CODING,LOW,18:47379936,C,T,p.Leu1368Leu,c.4104C>T,35,0.347,101,0,0,98,SILENT,p.Leu1368Leu/c.4104C>T:p.Leu483Leu/c.1449C>T:p.Leu485Leu/c.1455C>T,.,NA,NA,NA
MYOG,,NON_SYNONYMOUS_CODING,MODERATE,1:203053835,G,T,p.His165Asn,c.493G>T,15,0.214,70,0,0,33,MISSENSE,p.His165Asn/c.493G>T,.,NA,NA,NA
MYSM1,,NON_SYNONYMOUS_CODING,MODERATE,1:59147869,C,G,p.Glu283Gln,c.847C>G,33,0.198,167,0,0,195,MISSENSE,p.Glu283Gln/c.847C>G,.,NA,NA,NA
NBEA,,NON_SYNONYMOUS_CODING,MODERATE,13:35619172,A,C,p.Glu205Asp,c.615A>C,37,0.162,228,0,0,233,MISSENSE,p.Glu205Asp/c.615A>C,.,NA,NA,NA
NDUFB2,,NON_SYNONYMOUS_CODING,MODERATE,7:140397142,C,T,p.His5Tyr,c.13C>T,97,0.216,450,0,0,167,MISSENSE,p.His5Tyr/c.13C>T,.,NA,NA,NA
NEBL,,NON_SYNONYMOUS_CODING,MODERATE,10:21074800,G,C,p.Ser196Cys,c.587G>C,12,0.222,54,0,0,64,MISSENSE,p.Ser196Cys/c.587G>C:p.Ser230Cys/c.689G>C:p.Ser974Cys/c.2921G>C,.,NA,NA,NA
NECAB2,,SYNONYMOUS_CODING,LOW,16:84034347,C,G,p.Leu244Leu,c.732C>G,13,0.153,85,0,0,107,SILENT,p.Leu244Leu/c.732C>G:p.Leu327Leu/c.981C>G,.,NA,NA,NA
NECAB2,,SYNONYMOUS_CODING,LOW,16:84034368,C,T,p.Val251Val,c.753C>T,10,0.132,76,0,0,110,SILENT,p.Val251Val/c.753C>T:p.Val334Val/c.1002C>T,.,NA,NA,NA
NEU1,,NON_SYNONYMOUS_CODING,MODERATE,6:31829868,C,T,p.Arg87Gln,c.260C>T,52,0.195,266,0,0,127,MISSENSE,p.Arg87Gln/c.260C>T,.,1643014,1643014,NA
NFYC,,NON_SYNONYMOUS_CODING,MODERATE,1:41236350,G,C,p.Met390Ile,c.1170G>C,49,0.148,332,0,0,194,MISSENSE,p.Met390Ile/c.1170G>C:p.Met409Ile/c.1227G>C,.,NA,NA,NA
NMUR1,,SYNONYMOUS_CODING,LOW,2:232393663,G,C,p.Pro23Pro,c.69G>C,14,0.255,55,0,0,53,SILENT,p.Pro23Pro/c.69G>C,.,NA,NA,NA
NOM1,,SYNONYMOUS_CODING,LOW,7:156742761,G,C,p.Leu110Leu,c.330G>C,35,0.257,136,0,0,75,SILENT,p.Leu110Leu/c.330G>C,.,NA,NA,NA
NPAS1,,NON_SYNONYMOUS_CODING,MODERATE,19:47542765,G,A,p.Gly126Glu,c.377G>A,24,0.2,120,0,0,58,MISSENSE,p.Gly126Glu/c.377G>A:p.Gly302Glu/c.905G>A,.,NA,NA,NA
NPAS1,,STOP_LOST,HIGH,19:47546129,G,C,p.*235Serext*?,c.704G>C,40,0.32,125,0,0,59,MISSENSE,p.*235Serext*?/c.704G>C,.,NA,NA,NA
NRXN2,,NON_SYNONYMOUS_CODING,MODERATE,11:64428566,C,G,p.Gly584Ala,c.1751C>G,25,0.174,144,0,0,105,MISSENSE,p.Gly584Ala/c.1751C>G:p.Gly608Ala/c.1823C>G:p.Gly615Ala/c.1844C>G,.,NA,NA,NA
OBSCN,,SYNONYMOUS_CODING,LOW,1:228495879,C,T,p.Phe1297Phe,c.3891C>T,18,0.106,170,0,0,85,SILENT,p.Phe1297Phe/c.3891C>T:p.Phe1812Phe/c.5436C>T:p.Phe4178Phe/c.12534C>T:p.Phe4890Phe/c.14670C>T,.,NA,NA,NA
OCIAD1,,NON_SYNONYMOUS_CODING,MODERATE,4:48834676,C,T,p.Ala12Val,c.35C>T,14,0.146,96,0,0,84,MISSENSE,p.Ala12Val/c.35C>T,.,NA,NA,NA
OGFOD2,,SYNONYMOUS_CODING,LOW,12:123459894,C,T,p.Phe32Phe,c.96C>T,47,0.184,255,0,0,84,SILENT,p.Phe32Phe/c.96C>T,.,NA,NA,NA
ONECUT2,,NON_SYNONYMOUS_CODING,MODERATE,18:55104054,C,G,p.Ser350Cys,c.1049C>G,22,0.105,209,0,0,176,MISSENSE,p.Ser350Cys/c.1049C>G:p.Ser369Cys/c.1106C>G,.,NA,NA,NA
OPCML,,STOP_GAINED,HIGH,11:132306658,G,C,p.Ser186*,c.557G>C,11,0.25,44,0,0,63,NONSENSE,p.Ser186*/c.557G>C:p.Ser220*/c.659G>C:p.Ser227*/c.680G>C,rs138855940,NA,NA,NA
OR52H1,,SYNONYMOUS_CODING,LOW,11:5566424,G,A,p.Phe110Phe,c.330G>A,13,0.194,67,0,0,113,SILENT,p.Phe110Phe/c.330G>A,.,NA,NA,NA
ORAI3,,NON_SYNONYMOUS_CODING,MODERATE,16:30960791,C,T,p.Leu61Phe,c.181C>T,41,0.25,164,0,0,52,MISSENSE,p.Leu61Phe/c.181C>T,.,NA,NA,NA
OSBP,,NON_SYNONYMOUS_CODING,MODERATE,11:59361680,G,C,p.Leu454Val,c.1360G>C,29,0.22,132,0,0,117,MISSENSE,p.Leu454Val/c.1360G>C,.,NA,NA,NA
OSCP1,,NON_SYNONYMOUS_CODING,MODERATE,1:36909623,C,G,p.Glu42Gln,c.124C>G,64,0.299,214,0,0,184,MISSENSE,p.Glu42Gln/c.124C>G,.,NA,NA,NA
OTUD6A,,NON_SYNONYMOUS_CODING,MODERATE,X:69283127,G,C,p.Lys251Asn,c.753G>C,14,0.061,228,0,0,181,MISSENSE,p.Lys251Asn/c.753G>C,.,NA,NA,NA
PANK4,,NON_SYNONYMOUS_CODING,MODERATE,1:2452706,C,T,p.Glu86Lys,c.256C>T,60,0.221,272,0,0,138,MISSENSE,p.Glu86Lys/c.256C>T,.,NA,NA,NA
PCIF1,,NON_SYNONYMOUS_CODING,MODERATE,20:44569213,G,A,p.Glu117Lys,c.349G>A,11,0.051,217,1,0.008,131,MISSENSE,p.Glu117Lys/c.349G>A,.,NA,NA,NA
PCNT,,NON_SYNONYMOUS_CODING,MODERATE,21:47864656,C,G,p.Gln3297Glu,c.9889C>G,18,0.124,145,0,0,108,MISSENSE,p.Gln3297Glu/c.9889C>G,.,NA,NA,NA
PCYT1A,,SYNONYMOUS_CODING,LOW,3:195968909,G,A,p.Ile140Ile,c.420G>A,11,0.262,42,0,0,54,SILENT,p.Ile140Ile/c.420G>A:p.Ile167Ile/c.501G>A:p.Ile206Ile/c.618G>A:p.Ile79Ile/c.237G>A,.,NA,NA,NA
PDGFRB,,NON_SYNONYMOUS_CODING,MODERATE,5:149502704,C,T,p.Arg695His,c.2084C>T,41,0.189,217,0,0,139,MISSENSE,p.Arg695His/c.2084C>T,rs375978065,NA,NA,Y
PDIA5,,NON_SYNONYMOUS_CODING,MODERATE,3:122864404,G,C,p.Glu316Gln,c.946G>C,25,0.347,72,0,0,80,MISSENSE,p.Glu316Gln/c.946G>C,.,NA,NA,NA
PDS5B,,NON_SYNONYMOUS_CODING,MODERATE,13:33281075,C,G,p.Leu621Val,c.1861C>G,17,0.218,78,0,0,80,MISSENSE,p.Leu621Val/c.1861C>G,.,NA,NA,NA
PEX16,,NON_SYNONYMOUS_CODING,MODERATE,11:45935968,C,T,p.Arg103Gln,c.308C>T,30,0.306,98,0,0,64,MISSENSE,p.Arg103Gln/c.308C>T:p.Arg198Gln/c.593C>T:p.Arg94Gln/c.281C>T,.,NA,NA,NA
PHRF1,,NON_SYNONYMOUS_CODING,MODERATE,11:607334,G,C,p.Gln622His,c.1866G>C,72,0.215,335,0,0,157,MISSENSE,p.Gln622His/c.1866G>C:p.Gln624His/c.1872G>C:p.Gln625His/c.1875G>C:p.Gln626His/c.1878G>C,.,NA,NA,NA
PIGN,,STOP_GAINED,HIGH,18:59749912,G,C,p.Ser857*,c.2570G>C,13,0.232,56,0,0,51,NONSENSE,p.Ser857*/c.2570G>C,.,NA,NA,NA
PIGO,,NON_SYNONYMOUS_CODING,MODERATE,9:35090125,G,T,p.Gln1003Lys,c.3007G>T,26,0.274,95,0,0,112,MISSENSE,p.Gln1003Lys/c.3007G>T:p.Gln586Lys/c.1756G>T,.,NA,NA,NA
PIK3CA,Y,NON_SYNONYMOUS_CODING,MODERATE,3:178936091,G,A,p.Glu545Lys,c.1633G>A,28,0.384,73,0,0,84,MISSENSE,p.Glu545Lys/c.1633G>A,rs104886003,x4 ids,763:27133:125370:295672,Y
PKN1,,NON_SYNONYMOUS_CODING,MODERATE,19:14578775,G,C,p.Glu658Gln,c.1972G>C,26,0.135,193,0,0,159,MISSENSE,p.Glu658Gln/c.1972G>C:p.Glu664Gln/c.1990G>C,.,NA,NA,NA
PKN3,,NON_SYNONYMOUS_CODING,MODERATE,9:131467656,C,G,p.Ile33Met,c.99C>G,40,0.158,253,0,0,133,MISSENSE,p.Ile33Met/c.99C>G,.,NA,NA,NA
PLCD4,,NON_SYNONYMOUS_CODING,MODERATE,2:219498359,C,G,p.Ser494Cys,c.1481C>G,37,0.247,150,0,0,150,MISSENSE,p.Ser494Cys/c.1481C>G:p.Ser526Cys/c.1577C>G,.,163530,163530,NA
PLEKHA4,,NON_SYNONYMOUS_CODING,MODERATE,19:49362813,C,G,p.Arg202Thr,c.605C>G,37,0.118,314,0,0,73,MISSENSE,p.Arg202Thr/c.605C>G,.,NA,NA,NA
PLEKHH1,,NON_SYNONYMOUS_CODING,MODERATE,14:68038932,G,C,p.Glu556Gln,c.1666G>C,60,0.186,323,0,0,181,MISSENSE,p.Glu556Gln/c.1666G>C,.,NA,NA,NA
PMVK,,NON_SYNONYMOUS_CODING,MODERATE,1:154901542,G,C,p.Phe90Leu,c.270G>C,24,0.18,133,0,0,57,MISSENSE,p.Phe90Leu/c.270G>C,.,NA,NA,NA
POLD1,,SYNONYMOUS_CODING,LOW,19:50910374,C,T,p.Leu543Leu,c.1629C>T,12,0.056,215,0,0,104,SILENT,p.Leu543Leu/c.1629C>T,.,NA,NA,NA
POLN,,NON_SYNONYMOUS_CODING,MODERATE,4:2181145,C,T,p.Asp357Asn,c.1069C>T,21,0.156,135,0,0,140,MISSENSE,p.Asp357Asn/c.1069C>T,.,NA,NA,NA
POLR1A,,NON_SYNONYMOUS_CODING,MODERATE,2:86271339,C,T,p.Gly1020Arg,c.3058C>T,27,0.117,230,0,0,148,MISSENSE,p.Gly1020Arg/c.3058C>T,.,NA,NA,NA
POU2F1,,NON_SYNONYMOUS_CODING,MODERATE,1:167358936,G,C,p.Glu194Gln,c.580G>C,12,0.194,62,0,0,104,MISSENSE,p.Glu194Gln/c.580G>C:p.Glu246Gln/c.736G>C:p.Glu284Gln/c.850G>C:p.Glu286Gln/c.856G>C:p.Glu298Gln/c.892G>C:p.Glu309Gln/c.925G>C,.,NA,NA,NA
PPP1R3A,,NON_SYNONYMOUS_CODING,MODERATE,7:113517813,C,G,p.Glu1112Gln,c.3334C>G,19,0.158,120,0,0,149,MISSENSE,p.Glu1112Gln/c.3334C>G,rs368425000,NA,NA,NA
PPP1R3F,,NON_SYNONYMOUS_CODING,MODERATE,X:49142635,C,T,p.His149Tyr,c.445C>T,22,0.338,65,0,0,77,MISSENSE,p.His149Tyr/c.445C>T:p.His166Tyr/c.496C>T:p.His495Tyr/c.1483C>T,.,NA,NA,NA
PREX1,,NON_SYNONYMOUS_CODING,MODERATE,20:47247275,C,G,p.Lys1528Asn,c.4584C>G,30,0.172,174,0,0,83,MISSENSE,p.Lys1528Asn/c.4584C>G,.,NA,NA,NA
PRKDC,,NON_SYNONYMOUS_CODING,MODERATE,8:48740739,G,A,p.Ser2855Phe,c.8564G>A,29,0.254,114,0,0,135,MISSENSE,p.Ser2855Phe/c.8564G>A,.,NA,NA,NA
PRR18,,NON_SYNONYMOUS_CODING,MODERATE,6:166721128,G,A,p.Ser168Leu,c.503G>A,30,0.25,120,0,0,79,MISSENSE,p.Ser168Leu/c.503G>A,.,NA,NA,NA
PRRG3,,NON_SYNONYMOUS_CODING,MODERATE,X:150869158,C,G,p.Gln117Glu,c.349C>G,12,0.034,351,0,0,236,MISSENSE,p.Gln117Glu/c.349C>G:p.Gln46Glu/c.136C>G,.,NA,NA,NA
PRRT2,,NON_SYNONYMOUS_CODING,MODERATE,16:29824460,G,A,p.Glu29Lys,c.85G>A,41,0.23,178,0,0,69,MISSENSE,p.Glu29Lys/c.85G>A,.,NA,NA,NA
PRSS12,,NON_SYNONYMOUS_CODING,MODERATE,4:119203354,G,A,p.Leu789Phe,c.2365G>A,59,0.245,241,0,0,163,MISSENSE,p.Leu789Phe/c.2365G>A,.,x2 ids,268089:392510,NA
PRUNE2,,NON_SYNONYMOUS_CODING,MODERATE,9:79319972,C,G,p.Gln1727His,c.5181C>G,24,0.32,75,0,0,146,MISSENSE,p.Gln1727His/c.5181C>G:p.Gln2047His/c.6141C>G:p.Gln2406His/c.7218C>G,rs116690964,NA,NA,NA
PSMG1,,STOP_GAINED,HIGH,21:40550497,G,C,p.Ser157*,c.470G>C,37,0.171,217,0,0,155,NONSENSE,p.Ser157*/c.470G>C:p.Ser178*/c.533G>C,.,NA,NA,NA
PTCRA,,NON_SYNONYMOUS_CODING,MODERATE,6:42890889,C,G,p.Ile36Met,c.108C>G,17,0.137,124,0,0,83,MISSENSE,p.Ile36Met/c.108C>G:p.Ile61Met/c.183C>G,.,NA,NA,NA
PTK7,,SYNONYMOUS_CODING,LOW,6:43128544,C,G,p.Leu1006Leu,c.3018C>G,22,0.216,102,0,0,62,SILENT,p.Leu1006Leu/c.3018C>G:p.Leu1046Leu/c.3138C>G:p.Leu1054Leu/c.3162C>G:p.Leu340Leu/c.1020C>G:p.Leu916Leu/c.2748C>G:p.Leu990Leu/c.2970C>G,.,NA,NA,NA
PTPN13,,NON_SYNONYMOUS_CODING,MODERATE,4:87728918,C,G,p.Ile2126Met,c.6378C>G,56,0.225,249,0,0,229,MISSENSE,p.Ile2126Met/c.6378C>G:p.Ile2298Met/c.6894C>G:p.Ile2317Met/c.6951C>G:p.Ile2322Met/c.6966C>G,.,NA,NA,NA
PTPRH,,NON_SYNONYMOUS_CODING,MODERATE,19:55697008,G,T,p.Ser797Tyr,c.2390G>T,106,0.433,245,0,0,156,MISSENSE,p.Ser797Tyr/c.2390G>T:p.Ser975Tyr/c.2924G>T,.,NA,NA,NA
PYCR2,,NON_SYNONYMOUS_CODING,MODERATE,1:226108948,G,T,p.Leu179Met,c.535G>T,25,0.13,192,0,0,77,MISSENSE,p.Leu179Met/c.535G>T:p.Leu253Met/c.757G>T,.,NA,NA,NA
RP4-559A3.7,,NON_SYNONYMOUS_CODING,MODERATE,1:226108948,G,T,p.Leu179Met,c.535G>T,25,0.13,192,0,0,77,MISSENSE,p.Leu179Met/c.535G>T:p.Leu253Met/c.757G>T,.,NA,NA,NA
RAB23,,NON_SYNONYMOUS_CODING,MODERATE,6:57061377,G,C,p.Ser90Cys,c.269G>C,36,0.207,174,0,0,153,MISSENSE,p.Ser90Cys/c.269G>C,.,NA,NA,NA
RAB25,,SYNONYMOUS_CODING,LOW,1:156040006,C,T,p.Ile190Ile,c.570C>T,62,0.164,378,0,0,149,SILENT,p.Ile190Ile/c.570C>T,.,NA,NA,NA
RADIL,,NON_SYNONYMOUS_CODING,MODERATE,7:4841401,G,C,p.Pro669Ala,c.2005G>C,27,0.181,149,0,0,107,MISSENSE,p.Pro669Ala/c.2005G>C:p.Pro909Ala/c.2725G>C,rs370928945,NA,NA,NA
RANBP6,,SYNONYMOUS_CODING,LOW,9:6013637,T,C,p.Glu657Glu,c.1971T>C,11,0.039,284,1,0.004,248,SILENT,p.Glu657Glu/c.1971T>C,.,NA,NA,NA
RBM19,,NON_SYNONYMOUS_CODING,MODERATE,12:114362524,G,C,p.Ile761Met,c.2283G>C,34,0.141,241,0,0,281,MISSENSE,p.Ile761Met/c.2283G>C,.,NA,NA,NA
RBM45,,NON_SYNONYMOUS_CODING,MODERATE,2:178977570,C,G,p.Ile99Met,c.297C>G,17,0.175,97,0,0,74,MISSENSE,p.Ile99Met/c.297C>G,.,NA,NA,NA
RDH10,,NON_SYNONYMOUS_CODING,MODERATE,8:74233242,G,A,p.Asp234Asn,c.700G>A,67,0.247,271,0,0,213,MISSENSE,p.Asp234Asn/c.700G>A:p.Asp69Asn/c.205G>A,.,NA,NA,NA
RET,,SYNONYMOUS_CODING,LOW,10:43610013,C,T,p.Phe172Phe,c.516C>T,82,0.203,403,0,0,206,SILENT,p.Phe172Phe/c.516C>T:p.Phe655Phe/c.1965C>T,.,NA,NA,Y
REXO4,,NON_SYNONYMOUS_CODING,MODERATE,9:136279834,C,T,p.Glu160Lys,c.478C>T,15,0.09,167,1,0.015,67,MISSENSE,p.Glu160Lys/c.478C>T:p.Glu175Lys/c.523C>T:p.Glu82Lys/c.244C>T,.,1106421,1106421,NA
RGAG1,,NON_SYNONYMOUS_CODING,MODERATE,X:109696799,C,T,p.Ser985Phe,c.2954C>T,15,0.203,74,0,0,140,MISSENSE,p.Ser985Phe/c.2954C>T,.,NA,NA,NA
RHNO1,,NON_SYNONYMOUS_CODING,MODERATE,12:2997081,C,T,p.Ser44Leu,c.131C>T,17,0.283,60,0,0,55,MISSENSE,p.Ser44Leu/c.131C>T:p.Ser58Leu/c.173C>T,.,NA,NA,NA
RLTPR,,NON_SYNONYMOUS_CODING,MODERATE,16:67688540,C,T,p.Ser1140Leu,c.3419C>T,39,0.242,161,0,0,139,MISSENSE,p.Ser1140Leu/c.3419C>T:p.Ser1176Leu/c.3527C>T,.,NA,NA,NA
RNF139,,NON_SYNONYMOUS_CODING,MODERATE,8:125498189,C,G,p.Ser100Cys,c.299C>G,58,0.163,356,0,0,194,MISSENSE,p.Ser100Cys/c.299C>G,.,NA,NA,NA
RP11-371E8.4,,NON_SYNONYMOUS_CODING,MODERATE,14:93652804,C,G,p.Gln100Glu,c.298C>G,48,0.206,233,0,0,177,MISSENSE,p.Gln100Glu/c.298C>G:p.Gln62Glu/c.184C>G,.,NA,NA,NA
TMEM251,,NON_SYNONYMOUS_CODING,MODERATE,14:93652804,C,G,p.Gln100Glu,c.298C>G,48,0.206,233,0,0,177,MISSENSE,p.Gln100Glu/c.298C>G:p.Gln62Glu/c.184C>G,.,NA,NA,NA
RP11-429E11.3,,NON_SYNONYMOUS_CODING,MODERATE,20:60294135,G,C,p.Ser31Trp,c.92G>C,15,0.188,80,1,0.007,138,MISSENSE,p.Ser31Trp/c.92G>C,rs558684329,NA,NA,NA
RP4-697K14.7,,NON_SYNONYMOUS_CODING,MODERATE,20:62195065,C,T,p.Asp1135Asn,c.3403C>T,86,0.238,361,0,0,216,MISSENSE,p.Asp1135Asn/c.3403C>T:p.Asp1704Asn/c.5110C>T,.,NA,NA,NA
RP4-697K14.7,,SYNONYMOUS_CODING,LOW,20:62200196,G,A,p.Val415Val,c.1245G>A,37,0.247,150,0,0,82,SILENT,p.Val415Val/c.1245G>A,.,NA,NA,NA
RTN4R,,NON_SYNONYMOUS_CODING,MODERATE,22:20255596,C,T,p.Gly7Glu,c.20C>T,15,0.13,115,0,0,49,MISSENSE,p.Gly7Glu/c.20C>T,.,NA,NA,NA
SAAL1,,NON_SYNONYMOUS_CODING,MODERATE,11:18108448,G,A,p.Ser225Leu,c.674G>A,46,0.185,249,0,0,225,MISSENSE,p.Ser225Leu/c.674G>A:p.Ser336Leu/c.1007G>A,.,NA,NA,NA
SCAPER,,NON_SYNONYMOUS_CODING,MODERATE,15:77025599,C,T,p.Glu419Lys,c.1255C>T,48,0.214,224,0,0,222,MISSENSE,p.Glu419Lys/c.1255C>T:p.Glu665Lys/c.1993C>T:p.Glu671Lys/c.2011C>T,.,NA,NA,NA
SELP,,SYNONYMOUS_CODING,LOW,1:169588437,G,A,p.Ile7Ile,c.21G>A,22,0.133,165,0,0,141,SILENT,p.Ile7Ile/c.21G>A:p.Ile8Ile/c.24G>A,.,NA,NA,NA
SELRC1,,SYNONYMOUS_CODING,LOW,1:53153785,C,T,p.Glu101Glu,c.303C>T,17,0.243,70,0,0,73,SILENT,p.Glu101Glu/c.303C>T,.,NA,NA,NA
SERTAD4,,NON_SYNONYMOUS_CODING,MODERATE,1:210412915,G,A,p.Glu85Lys,c.253G>A,38,0.17,223,0,0,132,MISSENSE,p.Glu85Lys/c.253G>A,.,NA,NA,NA
SETDB1,,NON_SYNONYMOUS_CODING,MODERATE,1:150933193,G,C,p.Leu885Phe,c.2655G>C,32,0.186,172,0,0,128,MISSENSE,p.Leu885Phe/c.2655G>C,.,NA,NA,NA
SGK3,,STOP_GAINED,HIGH,8:67710796,C,A,p.Ser39*,c.116C>A,11,0.193,57,1,0.018,55,NONSENSE,p.Ser39*/c.116C>A,.,NA,NA,NA
SHKBP1,,NON_SYNONYMOUS_CODING,MODERATE,19:41083182,C,G,p.Phe44Leu,c.132C>G,36,0.305,118,0,0,48,MISSENSE,p.Phe44Leu/c.132C>G,.,NA,NA,NA
SKIV2L,,SYNONYMOUS_CODING,LOW,6:31932098,C,G,p.Leu457Leu,c.1371C>G,29,0.19,153,0,0,84,SILENT,p.Leu457Leu/c.1371C>G:p.Leu650Leu/c.1950C>G,.,NA,NA,NA
SLC17A6,,SYNONYMOUS_CODING,LOW,11:22384367,C,T,p.Val248Val,c.744C>T,15,0.179,84,0,0,125,SILENT,p.Val248Val/c.744C>T,.,NA,NA,NA
SLC1A5,,SYNONYMOUS_CODING,LOW,19:47282071,G,A,p.Leu105Leu,c.313G>A,68,0.206,330,0,0,170,SILENT,p.Leu105Leu/c.313G>A:p.Leu307Leu/c.919G>A:p.Leu79Leu/c.235G>A,.,998493,998493,NA
SLC25A11,,SYNONYMOUS_CODING,LOW,17:4843191,C,T,p.Ala5Ala,c.15C>T,77,0.265,291,0,0,224,SILENT,p.Ala5Ala/c.15C>T,.,NA,NA,NA
SLC26A11,,NON_SYNONYMOUS_CODING,MODERATE,17:78196561,C,G,p.Phe114Leu,c.342C>G,41,0.219,187,0,0,169,MISSENSE,p.Phe114Leu/c.342C>G:p.Phe29Leu/c.87C>G,.,473503,473503,NA
SLC27A3,,NON_SYNONYMOUS_CODING,MODERATE,1:153748508,G,C,p.Glu226Gln,c.676G>C,17,0.11,154,0,0,47,MISSENSE,p.Glu226Gln/c.676G>C:p.Glu307Gln/c.919G>C,.,NA,NA,NA
SLX4,,SYNONYMOUS_CODING,LOW,16:3632424,G,A,p.Phe1808Phe,c.5424G>A,22,0.179,123,0,0,90,SILENT,p.Phe1808Phe/c.5424G>A,.,NA,NA,NA
SNRNP70,,SYNONYMOUS_CODING,LOW,19:49607952,G,A,p.Glu179Glu,c.537G>A,28,0.126,223,0,0,83,SILENT,p.Glu179Glu/c.537G>A:p.Glu83Glu/c.249G>A,.,NA,NA,NA
SNX17,,START_GAINED,LOW,2:27593530,C,G,-,-,43,0.145,296,0,0,95,-,-/-,.,NA,NA,NA
SNX30,,NON_SYNONYMOUS_CODING,MODERATE,9:115567083,C,G,p.Pro62Ala,c.184C>G,19,0.302,63,0,0,70,MISSENSE,p.Pro62Ala/c.184C>G,.,NA,NA,NA
SPEG,,NON_SYNONYMOUS_CODING,MODERATE,2:220315917,G,C,p.Glu621Gln,c.1861G>C,23,0.138,167,0,0,144,MISSENSE,p.Glu621Gln/c.1861G>C:p.Glu725Gln/c.2173G>C,.,NA,NA,NA
SPHKAP,,NON_SYNONYMOUS_CODING,MODERATE,2:228884091,C,G,p.Gln493His,c.1479C>G,10,0.189,53,0,0,106,MISSENSE,p.Gln493His/c.1479C>G,.,NA,NA,NA
SPNS2,,SYNONYMOUS_CODING,LOW,17:4439686,C,T,p.Leu524Leu,c.1572C>T,43,0.402,107,0,0,86,SILENT,p.Leu524Leu/c.1572C>T,rs376425161,NA,NA,NA
SRBD1,,NON_SYNONYMOUS_CODING,MODERATE,2:45829191,C,G,p.Asp38His,c.112C>G,16,0.128,125,0,0,135,MISSENSE,p.Asp38His/c.112C>G,.,NA,NA,NA
SREBF1,,NON_SYNONYMOUS_CODING,MODERATE,17:17717644,G,A,p.Pro16Leu,c.47G>A,42,0.519,81,0,0,60,MISSENSE,p.Pro16Leu/c.47G>A:p.Pro685Leu/c.2054G>A:p.Pro939Leu/c.2816G>A:p.Pro969Leu/c.2906G>A:p.Pro9Leu/c.26G>A,.,NA,NA,NA
SSC5D,,NON_SYNONYMOUS_CODING,MODERATE,19:56028989,G,A,p.Glu1116Lys,c.3346G>A,48,0.098,490,0,0,211,MISSENSE,p.Glu1116Lys/c.3346G>A,.,NA,NA,NA
STRA6,,SYNONYMOUS_CODING,LOW,15:74487793,C,T,p.Leu140Leu,c.420C>T,28,0.136,206,0,0,147,SILENT,p.Leu140Leu/c.420C>T:p.Leu141Leu/c.423C>T:p.Leu149Leu/c.447C>T:p.Leu164Leu/c.492C>T:p.Leu186Leu/c.558C>T:p.Leu188Leu/c.564C>T,.,NA,NA,NA
SYT5,,NON_SYNONYMOUS_CODING,MODERATE,19:55685941,G,T,p.Leu298Met,c.892G>T,20,0.1,200,0,0,101,MISSENSE,p.Leu298Met/c.892G>T:p.Leu302Met/c.904G>T:p.Leu34Met/c.100G>T,rs552307400,NA,NA,NA
TAAR6,,NON_SYNONYMOUS_CODING,MODERATE,6:132892070,C,G,p.Leu204Val,c.610C>G,17,0.147,116,0,0,202,MISSENSE,p.Leu204Val/c.610C>G,rs181242745,NA,NA,NA
TACSTD2,,STOP_GAINED,HIGH,1:59042498,C,A,p.Glu111*,c.331C>A,149,0.296,504,1,0.005,210,NONSENSE,p.Glu111*/c.331C>A,.,3400916,3400916,NA
TBC1D30,,SYNONYMOUS_CODING,LOW,12:65174933,C,T,p.Leu115Leu,c.345C>T,13,0.295,44,0,0,35,SILENT,p.Leu115Leu/c.345C>T,.,NA,NA,NA
TBC1D9B,,NON_SYNONYMOUS_CODING,MODERATE,5:179294817,C,G,p.Glu100Gln,c.298C>G,17,0.288,59,0,0,37,MISSENSE,p.Glu100Gln/c.298C>G:p.Glu118Gln/c.352C>G:p.Glu942Gln/c.2824C>G,.,NA,NA,NA
TBL3,,SYNONYMOUS_CODING,LOW,16:2028396,G,A,p.Leu627Leu,c.1881G>A,14,0.109,129,0,0,70,SILENT,p.Leu627Leu/c.1881G>A:p.Leu739Leu/c.2217G>A,.,NA,NA,NA
TBL3,,NON_SYNONYMOUS_CODING,MODERATE,16:2028403,G,C,p.Glu630Gln,c.1888G>C,13,0.105,124,0,0,67,MISSENSE,p.Glu630Gln/c.1888G>C:p.Glu742Gln/c.2224G>C,.,NA,NA,NA
TCF12,,NON_SYNONYMOUS_CODING,MODERATE,15:57574756,G,A,p.Glu308Lys,c.922G>A,26,0.19,137,0,0,135,MISSENSE,p.Glu308Lys/c.922G>A:p.Glu331Lys/c.991G>A:p.Glu35Lys/c.103G>A:p.Glu39Lys/c.115G>A:p.Glu438Lys/c.1312G>A:p.Glu504Lys/c.1510G>A:p.Glu528Lys/c.1582G>A:p.Glu674Lys/c.2020G>A:p.Glu694Lys/c.2080G>A:p.Glu698Lys/c.2092G>A,.,NA,NA,Y
TLR1,,SYNONYMOUS_CODING,LOW,4:38798923,G,A,p.Phe510Phe,c.1530G>A,19,0.183,104,0,0,183,SILENT,p.Phe510Phe/c.1530G>A,.,NA,NA,NA
TMC5,,NON_SYNONYMOUS_CODING,MODERATE,16:19468335,C,G,p.Gln103Glu,c.307C>G,28,0.292,96,0,0,132,MISSENSE,p.Gln103Glu/c.307C>G,.,NA,NA,NA
TMEM183A,,SYNONYMOUS_CODING,LOW,1:202976668,C,G,p.Leu25Leu,c.75C>G,21,0.186,113,0,0,39,SILENT,p.Leu25Leu/c.75C>G,.,NA,NA,NA
TMTC1,,NON_SYNONYMOUS_CODING,MODERATE,12:29669353,C,T,p.Glu638Lys,c.1912C>T,23,0.242,95,0,0,85,MISSENSE,p.Glu638Lys/c.1912C>T:p.Glu746Lys/c.2236C>T:p.Glu770Lys/c.2308C>T:p.Glu808Lys/c.2422C>T,.,NA,NA,NA
TNFAIP2,,SYNONYMOUS_CODING,LOW,14:103593811,G,A,p.Leu235Leu,c.705G>A,100,0.231,433,0,0,171,SILENT,p.Leu235Leu/c.705G>A,.,NA,NA,NA
TNS4,,NON_SYNONYMOUS_CODING,MODERATE,17:38636962,C,G,p.Lys577Asn,c.1731C>G,10,0.149,67,0,0,39,MISSENSE,p.Lys577Asn/c.1731C>G,.,NA,NA,NA
TPRN,,NON_SYNONYMOUS_CODING,MODERATE,9:140094398,C,T,p.Asp195Asn,c.583C>T,47,0.21,224,0,0,83,MISSENSE,p.Asp195Asn/c.583C>T:p.Asp256Asn/c.766C>T:p.Asp54Asn/c.160C>T,.,NA,NA,NA
TRDMT1,,NON_SYNONYMOUS_CODING,MODERATE,10:17201207,G,T,p.Leu115Ile,c.343G>T,14,0.131,107,0,0,94,MISSENSE,p.Ala68Asp/c.203G>T:p.Ala89Asp/c.266G>T:p.Leu115Ile/c.343G>T:p.Leu119Ile/c.355G>T:p.Leu137Ile/c.409G>T:p.Leu161Ile/c.481G>T:p.Leu80Ile/c.238G>T:p.Leu94Ile/c.280G>T,.,NA,NA,NA
TRIO,,SYNONYMOUS_CODING,LOW,5:14291310,G,C,p.Leu293Leu,c.879G>C,26,0.222,117,0,0,70,SILENT,p.Leu293Leu/c.879G>C:p.Leu29Leu/c.87G>C:p.Leu342Leu/c.1026G>C,.,NA,NA,NA
TRPM7,,NON_SYNONYMOUS_CODING,MODERATE,15:50884161,G,C,p.Thr1424Ser,c.4271G>C,33,0.173,191,0,0,171,MISSENSE,p.Thr1424Ser/c.4271G>C,.,NA,NA,NA
TSC22D1,,SYNONYMOUS_CODING,LOW,13:45149590,C,T,p.Gln207Gln,c.621C>T,25,0.333,75,0,0,70,SILENT,p.Gln207Gln/c.621C>T,rs371261364,1300211,1300211,NA
TSHZ2,,SYNONYMOUS_CODING,LOW,20:51872706,C,T,p.Val900Val,c.2700C>T,23,0.197,117,0,0,134,SILENT,p.Val900Val/c.2700C>T:p.Val903Val/c.2709C>T,.,NA,NA,NA
TSHZ3,,NON_SYNONYMOUS_CODING,MODERATE,19:31770057,G,T,p.Phe214Leu,c.642G>T,70,0.285,246,0,0,202,MISSENSE,p.Phe214Leu/c.642G>T,.,NA,NA,NA
TSPAN4,,SYNONYMOUS_CODING,LOW,11:850361,C,G,p.Leu19Leu,c.57C>G,46,0.225,204,0,0,181,SILENT,p.Leu19Leu/c.57C>G:p.Leu38Leu/c.114C>G,.,NA,NA,NA
TTC30B,,NON_SYNONYMOUS_CODING,MODERATE,2:178415929,C,T,p.Met521Ile,c.1563C>T,50,0.231,216,0,0,230,MISSENSE,p.Met521Ile/c.1563C>T,.,NA,NA,NA
TTF2,,NON_SYNONYMOUS_CODING,MODERATE,1:117617660,G,A,p.Asp152Asn,c.454G>A,26,0.095,273,0,0,255,MISSENSE,p.Asp152Asn/c.454G>A,.,NA,NA,NA
TTN,,NON_SYNONYMOUS_CODING,MODERATE,2:179443749,C,G,p.Asp13605His,c.40813C>G,13,0.186,70,0,0,137,MISSENSE,p.Asp13605His/c.40813C>G:p.Asp13730His/c.41188C>G:p.Asp13797His/c.41389C>G:p.Asp20102His/c.60304C>G:p.Asp21029His/c.63085C>G:p.Asp22670His/c.68008C>G,.,NA,NA,NA
TTN,,SYNONYMOUS_CODING,LOW,2:179600503,G,A,p.Phe3646Phe,c.10938G>A,46,0.197,234,0,0,318,SILENT,p.Phe3646Phe/c.10938G>A:p.Phe4573Phe/c.13719G>A:p.Phe4890Phe/c.14670G>A,.,NA,NA,NA
TXLNB,,SYNONYMOUS_CODING,LOW,6:139569038,G,A,p.Leu362Leu,c.1086G>A,77,0.255,302,0,0,214,SILENT,p.Leu362Leu/c.1086G>A,.,NA,NA,NA
TXNIP,,NON_SYNONYMOUS_CODING,MODERATE,1:145439652,G,C,p.Glu104Gln,c.310G>C,63,0.093,676,0,0,256,MISSENSE,p.Glu104Gln/c.310G>C:p.Glu49Gln/c.145G>C,.,NA,NA,NA
UBE4B,,NON_SYNONYMOUS_CODING,MODERATE,1:10239958,G,C,p.Glu1044Gln,c.3130G>C,16,0.137,117,0,0,86,MISSENSE,p.Glu1044Gln/c.3130G>C:p.Glu1156Gln/c.3466G>C:p.Glu1285Gln/c.3853G>C,.,NA,NA,NA
UBR4,,SYNONYMOUS_CODING,LOW,1:19493563,C,T,p.Leu1354Leu,c.4062C>T,44,0.295,149,0,0,114,SILENT,p.Leu1354Leu/c.4062C>T:p.Leu570Leu/c.1710C>T:p.Leu64Leu/c.192C>T,.,NA,NA,NA
UBR4,,NON_SYNONYMOUS_CODING,MODERATE,1:19493715,C,T,p.Glu1304Lys,c.3910C>T,12,0.138,87,0,0,95,MISSENSE,p.Glu1304Lys/c.3910C>T:p.Glu14Lys/c.40C>T:p.Glu520Lys/c.1558C>T,.,NA,NA,NA
UBXN4,,SYNONYMOUS_CODING,LOW,2:136540328,G,C,p.Val466Val,c.1398G>C,21,0.136,154,0,0,143,SILENT,p.Val466Val/c.1398G>C,.,NA,NA,NA
UGT2B7,,NON_SYNONYMOUS_CODING,MODERATE,4:69962525,G,C,p.Arg96Thr,c.287G>C,12,0.162,74,0,0,75,MISSENSE,p.Arg96Thr/c.287G>C,.,NA,NA,NA
UQCRC1,,NON_SYNONYMOUS_CODING,MODERATE,3:48646992,C,T,p.Arg21His,c.62C>T,79,0.35,226,0,0,133,MISSENSE,p.Arg21His/c.62C>T,.,NA,NA,NA
USH2A,Y,NON_SYNONYMOUS_CODING,MODERATE,1:215808017,C,A,p.Lys5027Asn,c.15081C>A,23,0.117,196,0,0,139,MISSENSE,p.Lys5027Asn/c.15081C>A,.,NA,NA,NA
USP33,,NON_SYNONYMOUS_CODING,MODERATE,1:78187836,G,C,p.Pro114Ala,c.340G>C,37,0.261,142,0,0,165,MISSENSE,p.Pro114Ala/c.340G>C:p.Pro479Ala/c.1435G>C:p.Pro510Ala/c.1528G>C,.,NA,NA,NA
USP8,,NON_SYNONYMOUS_CODING,MODERATE,15:50784950,C,T,p.Arg657Trp,c.1969C>T,12,0.05,238,1,0.004,226,MISSENSE,p.Arg657Trp/c.1969C>T:p.Arg763Trp/c.2287C>T,rs78143971,NA,NA,NA
USP8,,NON_SYNONYMOUS_CODING,MODERATE,15:50784955,C,A,p.Asn658Lys,c.1974C>A,10,0.046,219,1,0.005,215,MISSENSE,p.Asn658Lys/c.1974C>A:p.Asn764Lys/c.2292C>A,rs74840283,1179083,1179083,NA
VEGFA,,SYNONYMOUS_CODING,LOW,6:43738671,G,A,p.Pro47Pro,c.141G>A,19,0.207,92,0,0,36,SILENT,p.Pro47Pro/c.141G>A:p.Pro76Pro/c.228G>A,rs369902034,NA,NA,NA
VGLL4,,NON_SYNONYMOUS_CODING,MODERATE,3:11600147,G,C,p.Ile168Met,c.504G>C,25,0.124,201,0,0,101,MISSENSE,p.Ile168Met/c.504G>C:p.Ile172Met/c.516G>C:p.Ile193Met/c.579G>C:p.Ile252Met/c.756G>C:p.Ile257Met/c.771G>C:p.Ile258Met/c.774G>C,.,NA,NA,NA
VPS8,,NON_SYNONYMOUS_CODING,MODERATE,3:184612633,C,T,p.His640Tyr,c.1918C>T,11,0.379,29,0,0,30,MISSENSE,p.His640Tyr/c.1918C>T:p.His642Tyr/c.1924C>T,.,NA,NA,NA
WDFY3,,NON_SYNONYMOUS_CODING,MODERATE,4:85617949,C,G,p.Gly2858Ala,c.8573C>G,24,0.242,99,0,0,108,MISSENSE,p.Gly2858Ala/c.8573C>G:p.Gly2875Ala/c.8624C>G:p.Gly478Ala/c.1433C>G,.,NA,NA,NA
WDFY4,,NON_SYNONYMOUS_CODING,MODERATE,10:50085201,G,A,p.Arg1465Gln,c.4394G>A,15,0.214,70,0,0,59,MISSENSE,p.Arg1465Gln/c.4394G>A:p.Arg2375Gln/c.7124G>A:p.Arg461Gln/c.1382G>A,.,NA,NA,NA
WDR19,,NON_SYNONYMOUS_CODING,MODERATE,4:39219627,C,G,p.Gln301Glu,c.901C>G,39,0.214,182,0,0,192,MISSENSE,p.Gln301Glu/c.901C>G:p.Gln461Glu/c.1381C>G,.,NA,NA,NA
WDR24,,SYNONYMOUS_CODING,LOW,16:735099,C,G,p.Leu699Leu,c.2097C>G,14,0.035,402,0,0,122,SILENT,p.Leu699Leu/c.2097C>G:p.Leu829Leu/c.2487C>G,.,NA,NA,NA
WDR81,,NON_SYNONYMOUS_CODING,MODERATE,17:1631606,C,T,p.Ser1118Phe,c.3353C>T,88,0.289,304,0,0,184,MISSENSE,p.Ser1118Phe/c.3353C>T:p.Ser34Phe/c.101C>T:p.Ser67Phe/c.200C>T,.,NA,NA,NA
WNT3A,,NON_SYNONYMOUS_CODING,MODERATE,1:228246937,C,T,p.Ser277Leu,c.830C>T,59,0.252,234,0,0,116,MISSENSE,p.Ser277Leu/c.830C>T,.,1501365,1501365,NA
XCL1,,NON_SYNONYMOUS_CODING,MODERATE,1:168549319,C,T,p.Ser27Leu,c.80C>T,11,0.08,137,0,0,111,MISSENSE,p.Ser27Leu/c.80C>T,.,NA,NA,NA
XPO5,,SYNONYMOUS_CODING,LOW,6:43526242,G,A,p.Phe436Phe,c.1308G>A,48,0.213,225,0,0,190,SILENT,p.Phe436Phe/c.1308G>A,.,NA,NA,NA
XPO6,,SYNONYMOUS_CODING,LOW,16:28112911,G,A,p.Ile1034Ile,c.3102G>A,41,0.265,155,1,0.01,104,SILENT,p.Ile1034Ile/c.3102G>A:p.Ile1048Ile/c.3144G>A:p.Ile56Ile/c.168G>A:p.Ile62Ile/c.186G>A,rs142777032,NA,NA,NA
ZBTB12,,NON_SYNONYMOUS_CODING,MODERATE,6:31868998,C,G,p.Glu29Gln,c.85C>G,71,0.223,318,0,0,87,MISSENSE,p.Glu29Gln/c.85C>G,.,741832,741832,NA
ZBTB43,,SYNONYMOUS_CODING,LOW,9:129595607,C,A,p.Ile273Ile,c.819C>A,59,0.199,296,0,0,203,SILENT,p.Ile273Ile/c.819C>A,rs369755467,NA,NA,NA
ZFP64,,NON_SYNONYMOUS_CODING,MODERATE,20:50721320,G,A,p.Ser15Leu,c.44G>A,11,0.055,199,0,0,167,MISSENSE,p.Ser15Leu/c.44G>A,.,NA,NA,NA
ZNF12,,START_LOST,HIGH,7:6744802,C,T,p.Met1?,c.3C>T,57,0.227,251,0,0,149,MISSENSE,p.Met1?/c.3C>T,.,NA,NA,NA
ZNF251,,NON_SYNONYMOUS_CODING,MODERATE,8:145947053,C,A,p.Lys664Asn,c.1992C>A,10,0.141,71,0,0,93,MISSENSE,p.Lys664Asn/c.1992C>A,.,286770,286770,NA
ZNF318,,NON_SYNONYMOUS_CODING,MODERATE,6:43305587,G,A,p.Ser2050Leu,c.6149G>A,61,0.228,267,0,0,264,MISSENSE,p.Ser2050Leu/c.6149G>A,.,NA,NA,NA
ZNF337,,SYNONYMOUS_CODING,LOW,20:25656580,C,T,p.Val416Val,c.1248C>T,13,0.046,280,0,0,288,SILENT,p.Val416Val/c.1248C>T:p.Val448Val/c.1344C>T,.,NA,NA,NA
ZNF551,,NON_SYNONYMOUS_CODING,MODERATE,19:58198397,G,C,p.Glu236Gln,c.706G>C,135,0.441,306,0,0,172,MISSENSE,p.Glu236Gln/c.706G>C:p.Glu252Gln/c.754G>C,.,NA,NA,NA
ZNF670,,NON_SYNONYMOUS_CODING,MODERATE,1:247201521,C,G,p.Glu134Gln,c.400C>G,42,0.169,248,0,0,242,MISSENSE,p.Glu134Gln/c.400C>G,.,NA,NA,NA
ZNF700,,NON_SYNONYMOUS_CODING,MODERATE,19:12058074,C,T,p.Leu30Phe,c.88C>T,48,0.233,206,0,0,158,MISSENSE,p.Leu30Phe/c.88C>T:p.Leu48Phe/c.142C>T,.,NA,NA,NA
ZNF764,,NON_SYNONYMOUS_CODING,MODERATE,16:30566634,C,T,p.Gly369Arg,c.1105C>T,55,0.244,225,0,0,128,MISSENSE,p.Gly369Arg/c.1105C>T:p.Gly370Arg/c.1108C>T,.,NA,NA,NA
ZNF780B,,NON_SYNONYMOUS_CODING,MODERATE,19:40540695,G,A,p.His543Tyr,c.1627G>A,54,0.235,230,0,0,247,MISSENSE,p.His543Tyr/c.1627G>A:p.His691Tyr/c.2071G>A,.,NA,NA,NA
ZNF780B,,NON_SYNONYMOUS_CODING,MODERATE,19:40541039,C,T,p.Arg428Gln,c.1283C>T,63,0.224,281,0,0,278,MISSENSE,p.Arg428Gln/c.1283C>T:p.Arg576Gln/c.1727C>T,rs61737024,NA,NA,NA
ZNF782,,SYNONYMOUS_CODING,LOW,9:99580322,G,C,p.Leu529Leu,c.1587G>C,40,0.192,208,0,0,245,SILENT,p.Leu529Leu/c.1587G>C:p.Leu649Leu/c.1947G>C:p.Leu661Leu/c.1983G>C,.,487721,487721,NA
ZNF782,,NON_SYNONYMOUS_CODING,MODERATE,9:99580672,G,C,p.Gln413Glu,c.1237G>C,34,0.26,131,0,0,220,MISSENSE,p.Gln413Glu/c.1237G>C:p.Gln533Glu/c.1597G>C:p.Gln545Glu/c.1633G>C,.,NA,NA,NA
ZNF782,,NON_SYNONYMOUS_CODING,MODERATE,9:99580844,G,C,p.Phe355Leu,c.1065G>C,24,0.353,68,0,0,144,MISSENSE,p.Phe355Leu/c.1065G>C:p.Phe475Leu/c.1425G>C:p.Phe487Leu/c.1461G>C,.,NA,NA,NA
ZNF792,,NON_SYNONYMOUS_CODING,MODERATE,19:35450172,G,A,p.Ser196Phe,c.587G>A,49,0.215,228,0,0,230,MISSENSE,p.Ser196Phe/c.587G>A,.,NA,NA,NA
ZSCAN1,,NON_SYNONYMOUS_CODING,MODERATE,19:58549700,C,T,p.Leu166Phe,c.496C>T,14,0.143,98,0,0,57,MISSENSE,p.Leu166Phe/c.496C>T,.,NA,NA,NA
ZSCAN4,,NON_SYNONYMOUS_CODING,MODERATE,19:58189319,C,G,p.Ser145Cys,c.434C>G,18,0.069,260,0,0,226,MISSENSE,p.Ser145Cys/c.434C>G,.,NA,NA,NA
KIF7,,FRAME_SHIFT,HIGH,15:90190208,GC,G,p.X547X,c.1640*>-C,21,0.175,120,0,0,61,FRAME_SHIFT,p.X547X/c.1640*>-C,.,NA,NA,NA
TP53,Y,FRAME_SHIFT,HIGH,17:7577047,GTGGTGAGGCTCCCCTTTCT,G,p.X159X,c.476*>-TGGTGAGGCTCCCCTTTCT,29,0.153,189,0,0,178,FRAME_SHIFT,p.X159X/c.476*>-TGGTGAGGCTCCCCTTTCT:p.X291X/c.872*>-TGGTGAGGCTCCCCTTTCT,.,NA,NA,Y