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YT - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1513 mutations reported
557 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TYRO3ENSG00000092445ENST00000263798p.L603Vc.1807T>GSubstitution - Missense
TMEM68ENSG00000167904ENST00000334667p.?c.326-8T>AUnknown
DYTNENSG00000232125ENST00000452335p.A564Tc.1690G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.I731Ic.2193C>ASubstitution - coding silent
TTLL6ENSG00000170703ENST00000433608p.P292fs*6c.868_869insACInsertion - Frameshift
MUC16ENSG00000181143ENST00000397910p.K1331Kc.3993G>ASubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.S1159Lc.3476C>TSubstitution - Missense
PCK1ENSG00000124253ENST00000319441p.S239Pc.715T>CSubstitution - Missense
GNASENSG00000087460ENST00000371100p.L184Vc.550C>GSubstitution - Missense
PAPD5ENSG00000121274ENST00000436909p.R174Qc.521G>ASubstitution - Missense
ABCC11ENSG00000121270ENST00000356608p.F980Lc.2938T>CSubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.L174Lc.522G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L6388Pc.19163T>CSubstitution - Missense
ENST00000356127p.K10620Mc.31859A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.33083-4A>GUnknown
ENST00000356127p.?c.33083-4A>GUnknown
TTNENSG00000155657ENST00000359218p.E17362Kc.52084G>ASubstitution - Missense
ZNF28ENSG00000198538ENST00000457749p.M210Kc.629T>ASubstitution - Missense
HAS1ENSG00000105509ENST00000222115p.K354Nc.1062G>CSubstitution - Missense
CDH5ENSG00000179776ENST00000341529p.D301Nc.901G>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409911p.Q558Kc.1672C>ASubstitution - Missense
PDCD6IPENSG00000170248ENST00000307296p.S840Nc.2519G>ASubstitution - Missense
ARMC7ENSG00000125449ENST00000245543p.G79Gc.237A>CSubstitution - coding silent
ENST00000328380p.S1108_G1110delSPGc.3307_3315delCCTGGAAGTDeletion - In frame
PROCENSG00000115718ENST00000234071p.R271Wc.811C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Q374_Q375ins10c.1121_1122ins30Insertion - In frame
KIAA2018ENSG00000176542ENST00000316407p.H1452Yc.4354C>TSubstitution - Missense
ENST00000332454p.R231Sc.691C>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.D440Dc.1320C>TSubstitution - coding silent
AFAP1L1ENSG00000157510ENST00000296721p.E92Ec.276G>ASubstitution - coding silent
HEXIM2ENSG00000168517ENST00000307275p.T46Sc.136A>TSubstitution - Missense
ZKSCAN1ENSG00000106261ENST00000324306p.D137Nc.409G>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.L778Sc.2333T>CSubstitution - Missense
CXorf66ENSG00000203933ENST00000370540p.S95Sc.285A>GSubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.S1149Sc.3447G>ASubstitution - coding silent
CHD6ENSG00000124177ENST00000373233p.E1533Kc.4597G>ASubstitution - Missense
TCF7L2ENSG00000148737ENST00000352065p.E38Qc.112G>CSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.G565Wc.1693G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.E4374Kc.13120G>ASubstitution - Missense
FLNBENSG00000136068ENST00000357272p.S1159Lc.3476C>TSubstitution - Missense
C9orf131ENSG00000174038ENST00000421362p.P439Pc.1317C>TSubstitution - coding silent
SLC4A3ENSG00000114923ENST00000273063p.S773Sc.2319C>GSubstitution - coding silent
NSA2ENSG00000164346ENST00000296802p.R172Sc.516G>CSubstitution - Missense
NM_001527.1p.I54Tc.161T>CSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.N175Nc.525C>TSubstitution - coding silent
GPR125ENSG00000152990ENST00000334304p.L112Lc.336C>TSubstitution - coding silent
MYOTENSG00000120729ENST00000239926p.L486Lc.1458G>ASubstitution - coding silent
CD22ENSG00000012124ENST00000085219p.Q152Ec.454C>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.I3500Vc.10498A>GSubstitution - Missense
TCF7L2ENSG00000148737ENST00000352065p.?c.616+10G>TUnknown
DENND1AENSG00000119522ENST00000373618p.L106Pc.317T>CSubstitution - Missense
CHRNA7ENSG00000175344ENST00000454250p.P405Lc.1214C>TSubstitution - Missense
KCNK10ENSG00000100433ENST00000319231p.K217Nc.651A>TSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Hc.1559T>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.K1341Kc.4023G>ASubstitution - coding silent
PCDHGB6ENSG00000253305ENST00000520790p.R89*c.265C>TSubstitution - Nonsense
DNAH14ENSG00000185842ENST00000430092p.L3217Rc.9650T>GSubstitution - Missense
OR4A47ENSG00000237388ENST00000446524p.N170Sc.509A>GSubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.P1389fs*>2c.4166delCDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.S4210Sc.12630C>TSubstitution - coding silent
C1QBENSG00000173369ENST00000314933p.Q52Hc.156A>CSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.E4368Kc.13102G>ASubstitution - Missense
ECHDC3ENSG00000134463ENST00000379215p.S271Ac.811T>GSubstitution - Missense
RBM23ENSG00000100461ENST00000359890p.R247Qc.740G>ASubstitution - Missense
ENSG00000116883ENST00000373137p.H12fs*7c.31delCDeletion - Frameshift
TAS1R2ENSG00000179002ENST00000375371p.R290Hc.869G>ASubstitution - Missense
MYO5CENSG00000128833ENST00000261839p.V304Vc.912A>GSubstitution - coding silent
FAM181AENSG00000140067ENST00000267594p.D148Ac.443A>CSubstitution - Missense
FBF1ENSG00000188878ENST00000319129p.K125Kc.375G>ASubstitution - coding silent
ACY1ENSG00000243989ENST00000404366p.V370Lc.1108G>TSubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.K1179Kc.3537G>ASubstitution - coding silent
ROBO2ENSG00000185008ENST00000461745p.?c.3136+10G>AUnknown
HOXD9ENSG00000128709ENST00000249499p.*353Lc.1058G>TNonstop extension
XM_374491.1p.P1051Pc.3153T>ASubstitution - coding silent
CLEC5AENSG00000258227ENST00000546910p.?c.208+5A>GUnknown
ZC3H18ENSG00000158545ENST00000301011p.E344*c.1030G>TSubstitution - Nonsense
FAM136AENSG00000035141ENST00000037869p.?c.229-9T>CUnknown
ABCA9ENSG00000154258ENST00000340001p.P636Pc.1908T>GSubstitution - coding silent
TBC1D22AENSG00000054611ENST00000337137p.?c.1425+4A>CUnknown
USP40ENSG00000085982ENST00000450966p.V207Ec.620T>ASubstitution - Missense
ZKSCAN7ENSG00000196345ENST00000273320p.F476Vc.1426T>GSubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.G1137*c.3409G>TSubstitution - Nonsense
OR2A4ENSG00000180658ENST00000315453p.L54Lc.162G>TSubstitution - coding silent
WDR87ENSG00000171804ENST00000303868p.T64Tc.192T>ASubstitution - coding silent
ENST00000316490_v65p.E2862Qc.8584G>CSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.N914Sc.2741A>GSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.S1149Sc.3447G>ASubstitution - coding silent
OR4C13ENSG00000258817ENST00000555099p.C187*c.561C>ASubstitution - Nonsense
KCNK10ENSG00000100433ENST00000312350p.K217Nc.651A>TSubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.S522Cc.1564A>TSubstitution - Missense
PROCENSG00000115718ENST00000453608p.R326Wc.976C>TSubstitution - Missense
ENST00000328843_v70p.H2712Qc.8136C>GSubstitution - Missense
CMA1ENSG00000092009ENST00000250378p.R33Sc.97C>ASubstitution - Missense
SLC16A7ENSG00000118596ENST00000261187p.G325Ec.974G>ASubstitution - Missense
OR10S1ENSG00000196248ENST00000531945p.Q275Hc.825G>TSubstitution - Missense
MRPL24ENSG00000143314ENST00000368211p.L122Pc.365T>CSubstitution - Missense
PPFIA2ENSG00000139220ENST00000549396p.L695Lc.2085G>ASubstitution - coding silent
GXYLT1ENSG00000151233ENST00000280876p.P305Pc.915G>ASubstitution - coding silent
OTOGENSG00000188162ENST00000399397p.P2253Pc.6759G>ASubstitution - coding silent
SPPL2AENSG00000138600ENST00000261854p.?c.451-7C>TUnknown
SPPL2AENSG00000138600ENST00000261854p.?c.451-7C>TUnknown
AXDND1ENSG00000162779ENST00000367618p.K931Tc.2792A>CSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.I2303Fc.6907A>TSubstitution - Missense
SLC25A21ENSG00000183032ENST00000331299p.Y288Cc.863A>GSubstitution - Missense
NEGR1ENSG00000172260ENST00000357731p.N47Ic.140A>TSubstitution - Missense
MAP3K6ENSG00000142733ENST00000374040p.S260Sc.780C>TSubstitution - coding silent
AGRNENSG00000188157ENST00000379370p.C405Yc.1214G>ASubstitution - Missense
OLFM2ENSG00000105088ENST00000264833p.D59Gc.176A>GSubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.G1685Gc.5055G>ASubstitution - coding silent
NM_021628.1p.P298Pc.894T>CSubstitution - coding silent
DSG4ENSG00000175065ENST00000359747p.L12Sc.35T>CSubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.L386Fc.1156C>TSubstitution - Missense
ENSG00000204393ENST00000375670p.T23Mc.68C>TSubstitution - Missense
ANGPT4ENSG00000101280ENST00000381922p.H398Pc.1193A>CSubstitution - Missense
ABLIM2ENSG00000163995ENST00000447017p.A110Ac.330C>TSubstitution - coding silent
LRRTM4ENSG00000176204ENST00000409093p.Q557Kc.1669C>ASubstitution - Missense
KALRNENSG00000160145ENST00000240874p.S948Fc.2843C>TSubstitution - Missense
PID1ENSG00000153823ENST00000392054p.D246Nc.736G>ASubstitution - Missense
GMPPAENSG00000144591ENST00000341142p.F76Ic.226T>ASubstitution - Missense
ENST00000319509_v65p.S648Rc.1944C>ASubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.L304Lc.912A>GSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.A1546Gc.4637C>GSubstitution - Missense
ANKRD46ENSG00000186106ENST00000335659p.F200Cc.599T>GSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.A382Ac.1146C>TSubstitution - coding silent
ZNF229ENSG00000167383ENST00000291187p.E716Ec.2148A>GSubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.G658Wc.1972G>TSubstitution - Missense
ORM2ENSG00000228278ENST00000431067p.R51Rc.153A>CSubstitution - coding silent
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
SMAP2ENSG00000084070ENST00000372708p.M310Tc.929T>CSubstitution - Missense
ADRA2CENSG00000184160ENST00000330055p.F355Vc.1063T>GSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Lc.1560C>TSubstitution - coding silent
RAI14ENSG00000039560ENST00000397449p.F50Sc.149T>CSubstitution - Missense
TPTE2ENSG00000132958ENST00000400230p.G116Ac.347G>CSubstitution - Missense
PHLDB2ENSG00000144824ENST00000431670p.I193Ic.579C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.R1489Cc.4465C>TSubstitution - Missense
TEP1ENSG00000129566ENST00000262715p.?c.2098-4T>CUnknown
ADAM12ENSG00000148848ENST00000368679p.L287Lc.859C>TSubstitution - coding silent
TRIM67ENSG00000119283ENST00000366653p.D685Yc.2053G>TSubstitution - Missense
SLC4A8ENSG00000050438ENST00000453097p.K141Tc.422A>CSubstitution - Missense
ENST00000314607_v71p.C1278Cc.3834C>TSubstitution - coding silent
PAPLNENSG00000100767ENST00000340738p.A460Tc.1378G>ASubstitution - Missense
IPO13ENSG00000117408ENST00000372343p.P496Pc.1488A>GSubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.D5132Nc.15394G>ASubstitution - Missense
ZNF684ENSG00000117010ENST00000372699p.Y119Cc.356A>GSubstitution - Missense
FLGENSG00000143631ENST00000368799p.Q2875*c.8623C>TSubstitution - Nonsense
DENND2DENSG00000162777ENST00000357640p.N128Sc.383A>GSubstitution - Missense
TTC22ENSG00000006555ENST00000371276p.K222Ec.664A>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000458046p.S290Tc.869G>CSubstitution - Missense
MREGENSG00000118242ENST00000263268p.R105Rc.313A>CSubstitution - coding silent
EFCAB13ENSG00000178852ENST00000331493p.E763Dc.2289A>CSubstitution - Missense
ZNF287ENSG00000141040ENST00000395824p.L483Sc.1448T>CSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.R2321Kc.6962G>ASubstitution - Missense
GULP1ENSG00000144366ENST00000359135p.?c.609+1G>AUnknown
ADAMDEC1ENSG00000134028ENST00000256412p.T469Tc.1407A>TSubstitution - coding silent
DHRS13ENSG00000167536ENST00000378895p.R103Wc.307C>TSubstitution - Missense
KCNIP3ENSG00000115041ENST00000295225p.F133Lc.397T>CSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.P2351Pc.7053C>TSubstitution - coding silent
ENST00000426361p.R231Sc.693A>CSubstitution - Missense
ACY1ENSG00000243989ENST00000458031p.V460Lc.1378G>TSubstitution - Missense
HCKENSG00000101336ENST00000538448p.A283Ac.849A>TSubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.I361Tc.1082T>CSubstitution - Missense
ADH7ENSG00000196344ENST00000209665p.L319Lc.957G>ASubstitution - coding silent
NRN1LENSG00000188038ENST00000339176p.A80Ac.240C>GSubstitution - coding silent
ODC1ENSG00000115758ENST00000234111p.V461Ac.1382T>CSubstitution - Missense
WDR48ENSG00000114742ENST00000302313p.G455Gc.1365G>ASubstitution - coding silent
NUPL2ENSG00000136243ENST00000258742p.Q402Ec.1204C>GSubstitution - Missense
TXLNBENSG00000164440ENST00000358430p.D198Vc.593A>TSubstitution - Missense
USP45ENSG00000123552ENST00000500704p.L814Lc.2442A>GSubstitution - coding silent
KIAA1109ENSG00000138688ENST00000455637p.V32Lc.94G>CSubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.N231fs*6c.688delADeletion - Frameshift
SYTL5ENSG00000147041ENST00000456733p.?c.1500+5A>GUnknown
PHLDB2ENSG00000144824ENST00000393923p.I220Ic.660C>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.T1554Tc.4662G>ASubstitution - coding silent
TGFB2ENSG00000092969ENST00000366929p.P379Pc.1137G>CSubstitution - coding silent
AVPR1AENSG00000166148ENST00000299178p.?c.971-2A>CUnknown
SCN8AENSG00000196876ENST00000354534p.P285Pc.855C>TSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000358657p.K168Tc.503A>CSubstitution - Missense
TNFAIP2ENSG00000185215ENST00000538222p.A97Tc.289G>ASubstitution - Missense
SLAMF8ENSG00000158714ENST00000289707p.S102Sc.306C>TSubstitution - coding silent
XM_375718.1p.A322Pc.964G>CSubstitution - Missense
GABRA5ENSG00000186297ENST00000335625p.T318Tc.954C>TSubstitution - coding silent
MMP3ENSG00000149968ENST00000299855p.E367Ac.1100A>CSubstitution - Missense
PDE4BENSG00000184588ENST00000423207p.E9Kc.25G>ASubstitution - Missense
TNFSF13BENSG00000102524ENST00000375887p.D203Dc.609T>CSubstitution - coding silent
R3HDM4ENSG00000198858ENST00000361574p.A207Ac.621C>TSubstitution - coding silent
RP1ENSG00000104237ENST00000220676p.S965Ic.2894G>TSubstitution - Missense
ZNF341ENSG00000131061ENST00000342427p.S284Sc.852C>TSubstitution - coding silent
ZNF724PENSG00000196081ENST00000418100p.Y478Nc.1432T>ASubstitution - Missense
CLEC11AENSG00000105472ENST00000250340p.?c.148-10C>TUnknown
ZNF208ENSG00000160321ENST00000397126p.E858Ec.2574G>ASubstitution - coding silent
DSG4ENSG00000175065ENST00000308128p.L12Sc.35T>CSubstitution - Missense
ENST00000356127p.L12760Pc.38279T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.L6455Pc.19364T>CSubstitution - Missense
DPPA4ENSG00000121570ENST00000335658p.K148fs*2c.444delADeletion - Frameshift
NBEAL1ENSG00000144426ENST00000449802p.K1079Nc.3237A>TSubstitution - Missense
TBC1D8ENSG00000204634ENST00000409318p.T239Mc.716C>TSubstitution - Missense
LRCH3ENSG00000186001ENST00000334859p.S303Rc.907A>CSubstitution - Missense
PAMENSG00000145730ENST00000455264p.V803Mc.2407G>ASubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.Q364Rc.1091A>GSubstitution - Missense
RELNENSG00000189056ENST00000343529p.R1198Lc.3593G>TSubstitution - Missense
ZNF12ENSG00000164631ENST00000405858p.T404Tc.1212A>GSubstitution - coding silent
ECI2ENSG00000198721ENST00000380118p.I239Vc.715A>GSubstitution - Missense
PAPOLGENSG00000115421ENST00000238714p.H427Yc.1279C>TSubstitution - Missense
SLC19A3ENSG00000135917ENST00000258403p.L172Fc.514C>TSubstitution - Missense
UAP1L1ENSG00000197355ENST00000360271p.F217Fc.651C>TSubstitution - coding silent
ACBD4ENSG00000181513ENST00000431281p.G2Cc.4G>TSubstitution - Missense
MAP9ENSG00000164114ENST00000311277p.R21Rc.61A>CSubstitution - coding silent
STOX2ENSG00000173320ENST00000308497p.E687Ec.2061G>ASubstitution - coding silent
STOX2ENSG00000173320ENST00000308497p.E711Ec.2133G>ASubstitution - coding silent
CCDC110ENSG00000168491ENST00000307588p.H804Hc.2412C>TSubstitution - coding silent
ASIC5ENSG00000256394ENST00000537611p.S225Sc.675T>CSubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.L2853Lc.8559T>CSubstitution - coding silent
PCDHA11ENSG00000249158ENST00000398640p.A483Ac.1449G>ASubstitution - coding silent
RHAGENSG00000112077ENST00000371175p.R191Qc.572G>ASubstitution - Missense
ENST00000327733p.?c.859+3G>AUnknown
CEP152ENSG00000103995ENST00000380950p.L1016Lc.3048A>GSubstitution - coding silent
GRM3ENSG00000198822ENST00000394720p.L10Fc.30A>TSubstitution - Missense
ANKRD46ENSG00000186106ENST00000520552p.F200Cc.599T>GSubstitution - Missense
SH2D5ENSG00000189410ENST00000444387p.T233Tc.699G>CSubstitution - coding silent
IARS2ENSG00000067704ENST00000302637p.P375Rc.1124C>GSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.T1342Tc.4026T>GSubstitution - coding silent
KRT7ENSG00000135480ENST00000331817p.G57Vc.170G>TSubstitution - Missense
SLC22A24ENSG00000197658ENST00000326192p.K145Tc.434A>CSubstitution - Missense
SU_BRSK2p.I157Ic.471C>TSubstitution - coding silent
DCLK1ENSG00000133083ENST00000379893p.R135Kc.404G>ASubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.R442Kc.1325G>ASubstitution - Missense
CHRNA7ENSG00000175344ENST00000437966p.P286Lc.857C>TSubstitution - Missense
PTPRUENSG00000060656ENST00000345512p.I1067Lc.3199A>CSubstitution - Missense
SLC6A9ENSG00000196517ENST00000372310p.?c.962+8C>AUnknown
RSRC2ENSG00000111011ENST00000331738p.D90Nc.268G>ASubstitution - Missense
PKP1ENSG00000081277ENST00000367324p.P216Pc.648G>ASubstitution - coding silent
MAPTENSG00000186868ENST00000262410p.A261Sc.781G>TSubstitution - Missense
NXPH2ENSG00000144227ENST00000272641p.Q215Qc.645G>ASubstitution - coding silent
TXNDC15ENSG00000113621ENST00000358387p.G137Ac.410G>CSubstitution - Missense
MYO6ENSG00000196586ENST00000369977p.Q702Lc.2105A>TSubstitution - Missense
PCDHGB4ENSG00000253953ENST00000519479p.P464Ac.1390C>GSubstitution - Missense
ENST00000421549p.I814Fc.2440A>TSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.Q3339Rc.10016A>GSubstitution - Missense
MPNDENSG00000008382ENST00000262966p.Q434Lc.1301A>TSubstitution - Missense
EEF2ENSG00000167658ENST00000309311p.A549Ac.1647C>TSubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.T1853Tc.5559C>TSubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.?c.2141-3T>CUnknown
PKD1ENSG00000008710ENST00000262304p.G1199Sc.3595G>ASubstitution - Missense
MCF2LENSG00000126217ENST00000434480p.N1016Tc.3047A>CSubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.L677Lc.2031G>ASubstitution - coding silent
DENND1AENSG00000119522ENST00000373624p.L138Pc.413T>CSubstitution - Missense
ABLIM2ENSG00000163995ENST00000361737p.A110Ac.330C>TSubstitution - coding silent
ENST00000345013p.N6fs*18c.12delCDeletion - Frameshift
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQQQQQc.884_885ins27Insertion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQQQQQc.863_864ins27Insertion - In frame
PCDHGA11ENSG00000253873ENST00000398587p.T332Mc.995C>TSubstitution - Missense
GMDSENSG00000112699ENST00000380815p.N203Nc.609C>TSubstitution - coding silent
ENST00000356127p.S8737Sc.26211C>TSubstitution - coding silent
SH2D5ENSG00000189410ENST00000375031p.T149Tc.447G>CSubstitution - coding silent
GPC5ENSG00000179399ENST00000377067p.I312Nc.935T>ASubstitution - Missense
UGGT2ENSG00000102595ENST00000376747p.?c.1093-5T>AUnknown
GPR123ENSG00000197177ENST00000392607p.P131Sc.391C>TSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.L287Lc.859C>TSubstitution - coding silent
TCF7L2ENSG00000148737ENST00000355717p.E38Qc.112G>CSubstitution - Missense
FBLIM1ENSG00000162458ENST00000441801p.D96Dc.288C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373381p.L2336Rc.7007T>GSubstitution - Missense
ENST00000450802_v68p.L234Vc.700C>GSubstitution - Missense
AMOTL1ENSG00000166025ENST00000433060p.Q175Qc.525G>ASubstitution - coding silent
CHST3ENSG00000122863ENST00000373115p.S422Lc.1265C>TSubstitution - Missense
MXRA8ENSG00000162576ENST00000309212p.I430Ic.1290C>TSubstitution - coding silent
ZCCHC8ENSG00000033030ENST00000336229p.?c.875+3A>GUnknown
MTORENSG00000198793ENST00000361445p.P1408Sc.4222C>TSubstitution - Missense
PHTF1ENSG00000116793ENST00000369604p.?c.1270-9T>CUnknown
ZFYVE26ENSG00000072121ENST00000347230p.?c.4570-6C>TUnknown
RSRC2ENSG00000111011ENST00000354654p.D42Nc.124G>ASubstitution - Missense
LRRC46ENSG00000141294ENST00000269025p.R198*c.592C>TSubstitution - Nonsense
ESX1ENSG00000123576ENST00000372588p.A292Tc.874G>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.S1714Rc.5142T>GSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.S1714Rc.5142T>GSubstitution - Missense
ZSCAN30ENSG00000186814ENST00000333206p.L8Vc.22T>GSubstitution - Missense
TSPAN16ENSG00000130167ENST00000316737p.S9Fc.26C>TSubstitution - Missense
HCKENSG00000101336ENST00000375852p.A304Ac.912A>TSubstitution - coding silent
PDK4ENSG00000004799ENST00000005178p.R161*c.481C>TSubstitution - Nonsense
ZC3H18ENSG00000158545ENST00000301011p.D837Gc.2510A>GSubstitution - Missense
NM_003319p.E7031Dc.21093A>CSubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.S291Lc.872C>TSubstitution - Missense
STK31ENSG00000196335ENST00000355870p.Q71Pc.212A>CSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.S513Fc.1538C>TSubstitution - Missense
ENST00000273083p.K736Tc.2207A>CSubstitution - Missense
DCTN1ENSG00000204843ENST00000361874p.R1261Qc.3782G>ASubstitution - Missense
SOX11ENSG00000176887ENST00000322002p.R100Rc.300G>ASubstitution - coding silent
ENST00000328380p.?c.933+9T>CUnknown
PCLOENSG00000186472ENST00000333891p.A4061Ac.12183A>TSubstitution - coding silent
RYKENSG00000163785ENST00000296084p.T286Tc.858G>ASubstitution - coding silent
C9orf41ENSG00000156017ENST00000376834p.?c.911-9C>TUnknown
ERLEC1ENSG00000068912ENST00000185150p.L470Vc.1408T>GSubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.E782*c.2344G>TSubstitution - Nonsense
HIST1H2AJENSG00000182611ENST00000333151p.A22Sc.64G>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.I3435Vc.10303A>GSubstitution - Missense
FAM129BENSG00000136830ENST00000373314p.T413Mc.1238C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.?c.842+4A>CUnknown
ZC3H14ENSG00000100722ENST00000251038p.?c.1022+5C>GUnknown
RALGAPA1ENSG00000174373ENST00000307138p.?c.3869+3A>GUnknown
SFNENSG00000175793ENST00000339276p.P79Rc.236C>GSubstitution - Missense
PLEKHN1ENSG00000187583ENST00000379409p.G631Vc.1892G>TSubstitution - Missense
WDR44ENSG00000131725ENST00000254029p.D284Ac.851A>CSubstitution - Missense
ENST00000356127p.I777Ic.2331C>ASubstitution - coding silent
NCKAP1ENSG00000061676ENST00000360982p.R1060Cc.3178C>TSubstitution - Missense
USP36ENSG00000055483ENST00000312010p.F1087Vc.3259T>GSubstitution - Missense
ZNF439ENSG00000171291ENST00000304030p.G416Vc.1247G>TSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.I2343Ic.7029C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.K10496Kc.31488G>ASubstitution - coding silent
PIAS2ENSG00000078043ENST00000398654p.T584Tc.1752C>ASubstitution - coding silent
ENST00000405167p.P3744Lc.11231C>TSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.T366Sc.1097C>GSubstitution - Missense
COL25A1ENSG00000188517ENST00000399126p.G291Rc.871G>ASubstitution - Missense
HGSNATENSG00000165102ENST00000297798p.I245Tc.734T>CSubstitution - Missense
CNTN4ENSG00000144619ENST00000397459p.?c.1414+8T>GUnknown
PCLOENSG00000186472ENST00000333891p.K1341Kc.4023G>ASubstitution - coding silent
GREB1ENSG00000196208ENST00000381486p.C328Fc.983G>TSubstitution - Missense
POTEEENSG00000188219ENST00000356920p.E825Qc.2473G>CSubstitution - Missense
ENST00000343149p.L70Lc.210G>ASubstitution - coding silent
ZNF445ENSG00000185219ENST00000396077p.L111Ic.331C>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.R1542Cc.4624C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.T2034Rc.6101C>GSubstitution - Missense
EGR1ENSG00000120738ENST00000239938p.T148Pc.442A>CSubstitution - Missense
IFRD1ENSG00000006652ENST00000005558p.?c.1170+1_1170+4delgtaaUnknown
RBPJLENSG00000124232ENST00000343694p.R508Hc.1523G>ASubstitution - Missense
NM_133170.2p.F1087Fc.3261C>TSubstitution - coding silent
C22orf43ENSG00000189269ENST00000317749p.?c.277-8C>GUnknown
ITPR3ENSG00000096433ENST00000374316p.E855delEc.2560_2562delGAGDeletion - In frame
FAT3ENSG00000165323ENST00000541502p.F715Lc.2145T>GSubstitution - Missense
PID1ENSG00000153823ENST00000392055p.D215Nc.643G>ASubstitution - Missense
TM9SF4ENSG00000101337ENST00000398022p.I587Ic.1761C>ASubstitution - coding silent
RAB3GAP1ENSG00000115839ENST00000539493p.D712Nc.2134G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.L1168Lc.3502C>TSubstitution - coding silent
WDR59ENSG00000103091ENST00000262144p.G546Rc.1636G>ASubstitution - Missense
TICRRENSG00000140534ENST00000268138p.A1404Tc.4210G>ASubstitution - Missense
KRT86ENSG00000170442ENST00000293525p.R316Sc.946C>ASubstitution - Missense
PFKMENSG00000152556ENST00000359794p.R93Qc.278G>ASubstitution - Missense
APAF1ENSG00000120868ENST00000551964p.M687Vc.2059A>GSubstitution - Missense
AF282265.1p.P484Pc.1452A>GSubstitution - coding silent
IQCCENSG00000160051ENST00000291358p.R430Rc.1288A>CSubstitution - coding silent
RNF19BENSG00000116514ENST00000356990p.G359Gc.1077G>ASubstitution - coding silent
TCF7L2ENSG00000148737ENST00000369397p.E38Qc.112G>CSubstitution - Missense
TCF7L2ENSG00000148737ENST00000369397p.?c.616+10G>TUnknown
TACC2ENSG00000138162ENST00000453444p.R2008Wc.6022C>TSubstitution - Missense
TBL3ENSG00000183751ENST00000568546p.R707Wc.2119C>TSubstitution - Missense
HEATR4ENSG00000187105ENST00000553558p.R773Kc.2318G>ASubstitution - Missense
ENST00000298047_v61p.F715Lc.2145T>GSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.E946Ec.2838G>ASubstitution - coding silent
CCDC141ENSG00000163492ENST00000420890p.?c.526+6A>GUnknown
RYR3ENSG00000198838ENST00000389232p.S2889Sc.8667C>TSubstitution - coding silent
MYOCDENSG00000141052ENST00000425538p.S953Sc.2859C>TSubstitution - coding silent
KIR3DL3ENSG00000242019ENST00000291860p.A259Tc.775G>ASubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.Q1109Qc.3327A>GSubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.Q1109Qc.3327A>GSubstitution - coding silent
KRTAP6-3ENSG00000212938ENST00000391624p.Y51Sc.152A>CSubstitution - Missense
GMDSENSG00000112699ENST00000380815p.G204Dc.611G>ASubstitution - Missense
C16orf3ENSG00000221819ENST00000408886p.S70Fc.209C>TSubstitution - Missense
MC1RENSG00000258839ENST00000555147p.P22Pc.66C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.K221Ec.661A>GSubstitution - Missense
ADH7ENSG00000196344ENST00000476959p.L327Lc.981G>ASubstitution - coding silent
ENST00000381114p.L1789Lc.5365T>CSubstitution - coding silent
AUTS2ENSG00000158321ENST00000342771p.E908Gc.2723A>GSubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.S1709Cc.5125A>TSubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.?c.2956+9T>CUnknown
AXLENSG00000167601ENST00000359092p.A436Tc.1306G>ASubstitution - Missense
CYP2B6ENSG00000197408ENST00000324071p.P167Ac.499C>GSubstitution - Missense
C1QTNF2ENSG00000145861ENST00000393975p.G160Sc.478G>ASubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.A483Ac.1449G>ASubstitution - coding silent
KLHL24ENSG00000114796ENST00000242810p.A568Ac.1704A>GSubstitution - coding silent
RUNX2ENSG00000124813ENST00000352853p.L2Pc.5T>CSubstitution - Missense
B3GAT1ENSG00000109956ENST00000537389p.L45Lc.135G>ASubstitution - coding silent
HPS1ENSG00000107521ENST00000338546p.T68Ic.203C>TSubstitution - Missense
BRSK2ENSG00000174672ENST00000308230p.I157Ic.471C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.G284Rc.850G>ASubstitution - Missense
C4BPBENSG00000123843ENST00000451804p.K57Kc.171G>ASubstitution - coding silent
SDK2ENSG00000069188ENST00000392650p.S1610Pc.4828T>CSubstitution - Missense
LCLAT1ENSG00000172954ENST00000319406p.?c.111-9A>GUnknown
CACNA1IENSG00000100346ENST00000400164p.L1127Lc.3379C>TSubstitution - coding silent
C1orf65ENSG00000178395ENST00000366875p.S394Sc.1182C>TSubstitution - coding silent
CEP170BENSG00000099814ENST00000556508p.K298Ec.892A>GSubstitution - Missense
AGO4ENSG00000134698ENST00000373210p.W201*c.602G>ASubstitution - Nonsense
HPSE2ENSG00000172987ENST00000370552p.R590Hc.1769G>ASubstitution - Missense
CTTNENSG00000085733ENST00000376561p.S117Sc.351G>ASubstitution - coding silent
TEKT5ENSG00000153060ENST00000283025p.S257Gc.769A>GSubstitution - Missense
SNX29ENSG00000048471ENST00000306030p.F345Fc.1035T>CSubstitution - coding silent
SU_KSR2p.H374Hc.1122C>TSubstitution - coding silent
ARID4AENSG00000032219ENST00000355431p.Q1087fs*15c.3257_3258insAInsertion - Frameshift
KLHL28ENSG00000179454ENST00000396128p.R423Kc.1268G>ASubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.?c.114+3A>GUnknown
PLEKHN1ENSG00000187583ENST00000379410p.G579Vc.1736G>TSubstitution - Missense
KIAA1107ENSG00000069712ENST00000370378p.R923Sc.2769A>TSubstitution - Missense
CBLN4ENSG00000054803ENST00000064571p.?c.409-2A>CUnknown
RPS11ENSG00000142534ENST00000270625p.?c.353+7G>AUnknown
ENST00000428290_v65p.E758Ec.2274G>ASubstitution - coding silent
FLNCENSG00000128591ENST00000325888p.G896Rc.2686G>ASubstitution - Missense
ABCC12ENSG00000140798ENST00000311303p.R369Ic.1106G>TSubstitution - Missense
ALOXE3ENSG00000179148ENST00000318227p.P430Pc.1290T>CSubstitution - coding silent
PRKRAENSG00000180228ENST00000325748p.L228Vc.682T>GSubstitution - Missense
DEFB118ENSG00000131068ENST00000253381p.A53Ac.159T>GSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.?c.13967-4A>GUnknown
KIR2DL1ENSG00000125498ENST00000336077p.L15Lc.43T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.K16868Kc.50604G>ASubstitution - coding silent
GPR142ENSG00000257008ENST00000335666p.W144*c.432G>ASubstitution - Nonsense
ENST00000316893p.S1610Pc.4828T>CSubstitution - Missense
GRM3ENSG00000198822ENST00000361669p.L12Fc.36A>TSubstitution - Missense
KATNA1ENSG00000186625ENST00000335647p.P382Pc.1146G>ASubstitution - coding silent
PHLDB2ENSG00000144824ENST00000412622p.S937Sc.2811T>GSubstitution - coding silent
RTTNENSG00000176225ENST00000255674p.G143Gc.429A>GSubstitution - coding silent
SLC25A25ENSG00000148339ENST00000432073p.I175Mc.525C>GSubstitution - Missense
LRRC27ENSG00000148814ENST00000432555p.E307Gc.920A>GSubstitution - Missense
ENST00000328843_v70p.P2205Lc.6614C>TSubstitution - Missense
ORM2ENSG00000228278ENST00000412657p.K190Qc.568A>CSubstitution - Missense
KRT73ENSG00000186049ENST00000305748p.V159Mc.475G>ASubstitution - Missense
ENST00000368148p.Q1406Qc.4218A>GSubstitution - coding silent
SU_OBSCN.1p.R1489Cc.4465C>TSubstitution - Missense
LRRC27ENSG00000148814ENST00000368614p.E434Gc.1301A>GSubstitution - Missense
ENST00000543899p.G57Vc.170G>TSubstitution - Missense
ENST00000319957p.K141Tc.422A>CSubstitution - Missense
DUSP6ENSG00000139318ENST00000279488p.L314Vc.940C>GSubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.E889Dc.2667A>TSubstitution - Missense
EMC1ENSG00000127463ENST00000477853p.?c.1632+1G>CUnknown
CEP152ENSG00000103995ENST00000399334p.L1016Lc.3048A>GSubstitution - coding silent
C15orf62ENSG00000188277ENST00000344320p.R28Qc.83G>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.Y2198Hc.6592T>CSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.Q1087fs*15c.3257_3258insAInsertion - Frameshift
SERPINA9ENSG00000170054ENST00000337425p.N431Yc.1291A>TSubstitution - Missense
RGS12ENSG00000159788ENST00000344733p.S863Sc.2589T>CSubstitution - coding silent
PPLENSG00000118898ENST00000345988p.A461Vc.1382C>TSubstitution - Missense
FTOENSG00000140718ENST00000471389p.D144Nc.430G>ASubstitution - Missense
JPH1ENSG00000104369ENST00000342232p.T189Tc.567C>ASubstitution - coding silent
NM_147171.1p.D3347Nc.10039G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.P3909fs*33c.11726_11727delCTDeletion - Frameshift
ENST00000544929p.Q13Qc.39A>GSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.K10563Kc.31689G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.K10620Mc.31859A>TSubstitution - Missense
TM9SF4ENSG00000101337ENST00000217315p.I570Ic.1710C>ASubstitution - coding silent
COL25A1ENSG00000188517ENST00000399132p.G291Rc.871G>ASubstitution - Missense
ASH2LENSG00000129691ENST00000343823p.S441Fc.1322C>TSubstitution - Missense
M1APENSG00000159374ENST00000290536p.K424Tc.1271A>CSubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.G308Ac.923G>CSubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.A1705Dc.5114C>ASubstitution - Missense
NM_212556.1p.H151Rc.452A>GSubstitution - Missense
KLC3ENSG00000104892ENST00000391946p.S433fs*4c.1294_1295delCTDeletion - Frameshift
FDFT1ENSG00000079459ENST00000220584p.S355Cc.1064C>GSubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.L471Lc.1413G>CSubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.T103Tc.309T>ASubstitution - coding silent
TMEM196ENSG00000173452ENST00000405764p.E154Dc.462A>TSubstitution - Missense
MFSD7ENSG00000169026ENST00000322224p.G353Gc.1059C>TSubstitution - coding silent
GGT1ENSG00000100031ENST00000400380p.S413Sc.1239C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000334370p.?c.5858-8A>CUnknown
PSG9ENSG00000183668ENST00000270077p.F372Cc.1115T>GSubstitution - Missense
DENND1AENSG00000119522ENST00000394219p.L106Pc.317T>CSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.D5132Nc.15394G>ASubstitution - Missense
SLC11A2ENSG00000110911ENST00000394904p.E317Dc.951A>TSubstitution - Missense
MPNDENSG00000008382ENST00000359935p.Q414Lc.1241A>TSubstitution - Missense
ADAMTS1ENSG00000154734ENST00000284984p.T556Sc.1666A>TSubstitution - Missense
CNTLNENSG00000044459ENST00000262360p.E986Qc.2956G>CSubstitution - Missense
ALX4ENSG00000052850ENST00000329255p.G340Gc.1020C>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404771p.Q1204Hc.3612G>TSubstitution - Missense
GYS2ENSG00000111713ENST00000261195p.K40Tc.119A>CSubstitution - Missense
SLC11A2ENSG00000110911ENST00000262052p.E288Dc.864A>TSubstitution - Missense
ENST00000279593p.F1349Vc.4045T>GSubstitution - Missense
PFKMENSG00000152556ENST00000340802p.R164Qc.491G>ASubstitution - Missense
OR10G4ENSG00000254737ENST00000320891p.L123Vc.367T>GSubstitution - Missense
OR10V1ENSG00000172289ENST00000307552p.D192Yc.574G>TSubstitution - Missense
CPNE6ENSG00000100884ENST00000397016p.R64Hc.191G>ASubstitution - Missense
COL17A1ENSG00000065618ENST00000353479p.G1052Gc.3156C>TSubstitution - coding silent
CERS2ENSG00000143418ENST00000368954p.T74Tc.222T>CSubstitution - coding silent
DCLRE1CENSG00000152457ENST00000378246p.S452fs*12c.1349_1350insAAACInsertion - Frameshift
PSMD13ENSG00000185627ENST00000431206p.?c.271+4A>TUnknown
ATMENSG00000149311ENST00000278616p.?c.3154-5C>TUnknown
TRIM45ENSG00000134253ENST00000256649p.L341Vc.1021T>GSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.T2224Tc.6672T>GSubstitution - coding silent
ENST00000310210p.S43Yc.128C>ASubstitution - Missense
MON1BENSG00000103111ENST00000248248p.S461Gc.1381A>GSubstitution - Missense
TLCD2ENSG00000185561ENST00000330676p.R155Rc.465C>ASubstitution - coding silent
KDM3AENSG00000115548ENST00000409556p.L520Hc.1559T>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.L425Lc.1275G>ASubstitution - coding silent
BPGMENSG00000172331ENST00000344924p.G12*c.34G>TSubstitution - Nonsense
MYH2ENSG00000125414ENST00000245503p.L1110Wc.3329T>GSubstitution - Missense
ANKRD44ENSG00000065413ENST00000282272p.R643Qc.1928G>ASubstitution - Missense
LRCH3ENSG00000186001ENST00000438796p.S303Rc.907A>CSubstitution - Missense
LRCH3ENSG00000186001ENST00000425562p.S303Rc.907A>CSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.K4050Kc.12150G>ASubstitution - coding silent
ENST00000373702p.R507Qc.1520G>ASubstitution - Missense
COMMD1ENSG00000173163ENST00000311832p.V93Ic.277G>ASubstitution - Missense
GAP43ENSG00000172020ENST00000393780p.Q54Pc.161A>CSubstitution - Missense
FAM81BENSG00000153347ENST00000283357p.F149Vc.445T>GSubstitution - Missense
SERPINB2ENSG00000197632ENST00000299502p.?c.417+4A>GUnknown
FAT1ENSG00000083857ENST00000441802p.G3619Gc.10857G>ASubstitution - coding silent
CCDC141ENSG00000163492ENST00000409284p.?c.526+6A>GUnknown
CDC37L1ENSG00000106993ENST00000381854p.M45Vc.133A>GSubstitution - Missense
ANKRD18AENSG00000180071ENST00000399703p.D333Vc.998A>TSubstitution - Missense
CX3CL1ENSG00000006210ENST00000006053p.E123Kc.367G>ASubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.R953Sc.2859A>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.R953Sc.2859A>TSubstitution - Missense
TERF1ENSG00000147601ENST00000276603p.?c.1144-9T>CUnknown
ASAH1ENSG00000104763ENST00000381733p.Q111Rc.332A>GSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.V1169Vc.3507C>TSubstitution - coding silent
ENST00000273600p.P3973fs*33c.11918_11919delCTDeletion - Frameshift
GABRB1ENSG00000163288ENST00000295454p.D345Nc.1033G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.E7156Dc.21468A>CSubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.R274Gc.820A>GSubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.S291Lc.872C>TSubstitution - Missense
OR5H14ENSG00000236032ENST00000437310p.L157Sc.470T>CSubstitution - Missense
SEPT10ENSG00000186522ENST00000397712p.?c.1029-7T>GUnknown
GREB1ENSG00000196208ENST00000263834p.C328Fc.983G>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.H2712Qc.8136C>GSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.V207Ec.620T>ASubstitution - Missense
C16orf93ENSG00000196118ENST00000543610p.L102Lc.304C>TSubstitution - coding silent
PTPRMENSG00000173482ENST00000332175p.E1043Kc.3127G>ASubstitution - Missense
TRIML1ENSG00000184108ENST00000332517p.E152Gc.455A>GSubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.N98Hc.292A>CSubstitution - Missense
CA10ENSG00000154975ENST00000285273p.P176Pc.528A>GSubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.Q3314Rc.9941A>GSubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.F295Cc.884T>GSubstitution - Missense
CWH43ENSG00000109182ENST00000226432p.G183Sc.547G>ASubstitution - Missense
EVCENSG00000072840ENST00000264956p.?c.1564-6C>TUnknown
CDHR3ENSG00000128536ENST00000317716p.L364Rc.1091T>GSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.P1568Lc.4703C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000361209p.D704Nc.2110G>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.D755Nc.2263G>ASubstitution - Missense
CPNE6ENSG00000100884ENST00000537691p.R119Hc.356G>ASubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.E1651Qc.4951G>CSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.E1651Qc.4951G>CSubstitution - Missense
ENST00000215938p.S69Sc.207C>TSubstitution - coding silent
F11ENSG00000088926ENST00000264692p.?c.600-7T>AUnknown
PCLOENSG00000186472ENST00000423517p.Q374_Q375ins10c.1121_1122ins30Insertion - In frame
CDHR3ENSG00000128536ENST00000343407p.L81Rc.242T>GSubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.R336Qc.1007G>ASubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.K908Ec.2722A>GSubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.V206Gc.617T>GSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.E472Kc.1414G>ASubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.R1460Wc.4378C>TSubstitution - Missense
LRIT1ENSG00000148602ENST00000372105p.R381Sc.1143G>CSubstitution - Missense
PLBD1ENSG00000121316ENST00000240617p.Q91Hc.273A>CSubstitution - Missense
TDRD9ENSG00000156414ENST00000339063p.H49Nc.145C>ASubstitution - Missense
NM_001380.2p.N231fs*6c.688delADeletion - Frameshift
NHLRC2ENSG00000196865ENST00000369301p.I470Lc.1408A>CSubstitution - Missense
ENST00000306030_v65p.F345Fc.1035T>CSubstitution - coding silent
PPT1ENSG00000131238ENST00000433473p.G5Ac.14G>CSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.?c.4511+3A>GUnknown
FMO5ENSG00000131781ENST00000441068p.C147Fc.440G>TSubstitution - Missense
GPR139ENSG00000180269ENST00000570682p.S176Rc.528C>GSubstitution - Missense
ENST00000447890p.D203Nc.607G>ASubstitution - Missense
SBNO1ENSG00000139697ENST00000267176p.V1008Gc.3023T>GSubstitution - Missense
C6ENSG00000039537ENST00000263413p.V542Vc.1626G>CSubstitution - coding silent
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQQQQQc.884_885ins27Insertion - In frame
MYO1FENSG00000142347ENST00000338257p.R761Qc.2282G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.K1331Kc.3993G>ASubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.D3814Yc.11440G>TSubstitution - Missense
NUGGCENSG00000189233ENST00000341513p.R653Mc.1958G>TSubstitution - Missense
C9orf131ENSG00000174038ENST00000312292p.P487Pc.1461C>TSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000371752p.?c.1_104del4132Unknown
ENST00000310276p.S1525Sc.4575C>TSubstitution - coding silent
PLCE1ENSG00000138193ENST00000260766p.T1342Tc.4026T>GSubstitution - coding silent
MMP19ENSG00000123342ENST00000322569p.R473Hc.1418G>ASubstitution - Missense
CSKENSG00000103653ENST00000220003p.I255Ic.765C>TSubstitution - coding silent
NARS2ENSG00000137513ENST00000281038p.R451Hc.1352G>ASubstitution - Missense
SU_DYRK4p.F581Vc.1741T>GSubstitution - Missense
GXYLT1ENSG00000151233ENST00000398675p.P336Pc.1008G>ASubstitution - coding silent
KAZALD1ENSG00000107821ENST00000370200p.G114Sc.340G>ASubstitution - Missense
ZNF496ENSG00000162714ENST00000294753p.F415Vc.1243T>GSubstitution - Missense
SUCOENSG00000094975ENST00000367723p.S11Sc.33T>CSubstitution - coding silent
UNKLENSG00000059145ENST00000397462p.A397Vc.1190C>TSubstitution - Missense
KSR2ENSG00000171435ENST00000302438p.H39Hc.117C>TSubstitution - coding silent
STX2ENSG00000111450ENST00000392373p.D161Dc.483C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.L1317Lc.3951G>TSubstitution - coding silent
KCNH5ENSG00000140015ENST00000394968p.T510Tc.1530C>GSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000389698p.?c.3869+3A>GUnknown
LCE2BENSG00000159455ENST00000368780p.P14Pc.42C>ASubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.D1117Nc.3349G>ASubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.S745Ic.2234G>TSubstitution - Missense
NSFL1CENSG00000088833ENST00000216879p.A39Ac.117G>ASubstitution - coding silent
PARP12ENSG00000059378ENST00000263549p.D580Dc.1740C>TSubstitution - coding silent
NM_025134.3p.Q1564Qc.4692G>ASubstitution - coding silent
ITGAEENSG00000083457ENST00000263087p.?c.2319+10G>AUnknown
SNRNP200ENSG00000144028ENST00000323853p.V683Vc.2049G>CSubstitution - coding silent
ENST00000355436_v68p.R210Sc.630A>CSubstitution - Missense
NM_153697.1p.R626Qc.1877G>ASubstitution - Missense
DCAF17ENSG00000115827ENST00000375255p.L102Lc.306A>GSubstitution - coding silent
PPP6R1ENSG00000105063ENST00000412770p.G108Ac.323G>CSubstitution - Missense
CRYBB1ENSG00000100122ENST00000215939p.P45Lc.134C>TSubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.N6Kc.18C>GSubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.L443Lc.1329G>ASubstitution - coding silent
KIF19ENSG00000196169ENST00000389916p.R229Hc.686G>ASubstitution - Missense
HSD11B2ENSG00000176387ENST00000326152p.H304Hc.912T>CSubstitution - coding silent
TRPM8ENSG00000144481ENST00000324695p.R1079Rc.3237G>ASubstitution - coding silent
CORO1AENSG00000102879ENST00000219150p.V227Vc.681G>TSubstitution - coding silent
UAP1L1ENSG00000197355ENST00000409858p.F340Fc.1020C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.G4864Ec.14591G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.P4445Tc.13333C>ASubstitution - Missense
KRT17ENSG00000128422ENST00000311208p.Y398Cc.1193A>GSubstitution - Missense
AXLENSG00000167601ENST00000301178p.A445Tc.1333G>ASubstitution - Missense
BRD4ENSG00000141867ENST00000371835p.P336Pc.1008C>TSubstitution - coding silent
SLC25A25ENSG00000148339ENST00000373064p.I155Mc.465C>GSubstitution - Missense
SETENSG00000119335ENST00000322030p.F189Fc.567C>TSubstitution - coding silent
PKN3ENSG00000160447ENST00000291906p.G780Sc.2338G>ASubstitution - Missense
OSBPL5ENSG00000021762ENST00000263650p.R338Wc.1012C>TSubstitution - Missense
SNX29ENSG00000048471ENST00000323433p.F345Fc.1035T>CSubstitution - coding silent
BRD4ENSG00000141867ENST00000360016p.P336Pc.1008C>TSubstitution - coding silent
OR52J3ENSG00000205495ENST00000380370p.R82Cc.244C>TSubstitution - Missense
ARHGEF33ENSG00000214694ENST00000398800p.E32Kc.94G>ASubstitution - Missense
ZNF239ENSG00000196793ENST00000374446p.K270Tc.809A>CSubstitution - Missense
NCKAP5LENSG00000167566ENST00000335999p.Q517Ec.1549C>GSubstitution - Missense
MBD6ENSG00000166987ENST00000355673p.R347Cc.1039C>TSubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.L692Vc.2074T>GSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.T649Kc.1946C>ASubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.?c.4436-7T>GUnknown
UTP20ENSG00000120800ENST00000261637p.P2496Pc.7488A>GSubstitution - coding silent
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
DVL1ENSG00000107404ENST00000378891p.A417Vc.1250C>TSubstitution - Missense
FJX1ENSG00000179431ENST00000317811p.V306Ic.916G>ASubstitution - Missense
MPPED2ENSG00000066382ENST00000358117p.P216Pc.648T>CSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.L1361Lc.4083G>TSubstitution - coding silent
SEC16BENSG00000120341ENST00000308284p.D683Nc.2047G>ASubstitution - Missense
ENST00000298047_v61p.I3293Vc.9877A>GSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.H1191Hc.3573C>TSubstitution - coding silent
HOXD9ENSG00000128709ENST00000249499p.*343Lc.1028G>TNonstop extension
MUC4ENSG00000145113ENST00000463781p.S1018Cc.3053C>GSubstitution - Missense
INPP5JENSG00000185133ENST00000331075p.R65Qc.194G>ASubstitution - Missense
CA5AENSG00000174990ENST00000309893p.A208Tc.622G>ASubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.R565Rc.1693C>ASubstitution - coding silent
ADAM2ENSG00000104755ENST00000265708p.F577fs*14c.1728_1729insAAInsertion - Frameshift
TTLL1ENSG00000100271ENST00000266254p.R266Wc.796C>TSubstitution - Missense
KCTD5ENSG00000167977ENST00000301738p.T216Tc.648G>ASubstitution - coding silent
ERCC1ENSG00000012061ENST00000300853p.?c.843+8C>TUnknown
CUL9ENSG00000112659ENST00000252050p.D526Hc.1576G>CSubstitution - Missense
GTSE1ENSG00000075218ENST00000454366p.A436Tc.1306G>ASubstitution - Missense
IZUMO3ENSG00000205442ENST00000543880p.R155Rc.465G>ASubstitution - coding silent
ENST00000341648p.D320Yc.958G>TSubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.G1132*c.3394G>TSubstitution - Nonsense
MTMR4ENSG00000108389ENST00000323456p.A737Sc.2209G>TSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.?c.2733_2758-3>22Unknown
LAMB1ENSG00000091136ENST00000222399p.N563Hc.1687A>CSubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.?c.620-3C>GUnknown
ZMYND8ENSG00000101040ENST00000461685p.G439Ac.1316G>CSubstitution - Missense
SLC13A3ENSG00000158296ENST00000279027p.H206Rc.617A>GSubstitution - Missense
ARL5AENSG00000162980ENST00000295087p.S174Sc.522A>GSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.S965Sc.2895T>CSubstitution - coding silent
FAM129BENSG00000136830ENST00000373312p.T426Mc.1277C>TSubstitution - Missense
SETENSG00000119335ENST00000372692p.F202Fc.606C>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375267p.K1918Nc.5754G>CSubstitution - Missense
ANKRD44ENSG00000065413ENST00000337207p.R626Qc.1877G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.A4061Ac.12183A>TSubstitution - coding silent
NLGN3ENSG00000196338ENST00000374051p.L819Mc.2455C>ASubstitution - Missense
ENST00000399953_v65p.P136Pc.408G>ASubstitution - coding silent
MEDAGENSG00000102802ENST00000380482p.I265Lc.793A>TSubstitution - Missense
IQCCENSG00000160051ENST00000537469p.R510Rc.1528A>CSubstitution - coding silent
CLEC16AENSG00000038532ENST00000409790p.L1007Lc.3021G>TSubstitution - coding silent
PIFOENSG00000173947ENST00000369738p.Q18Ec.52C>GSubstitution - Missense
ENST00000331888p.L32fs*24c.92delTDeletion - Frameshift
CARD6ENSG00000132357ENST00000254691p.R779Rc.2337A>CSubstitution - coding silent
NUP155ENSG00000113569ENST00000231498p.A9Vc.26C>TSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.?c.2835+4A>GUnknown
PXDNLENSG00000147485ENST00000356297p.T942Tc.2826C>TSubstitution - coding silent
JAG1ENSG00000101384ENST00000254958p.P531Rc.1592C>GSubstitution - Missense
SPO11ENSG00000054796ENST00000371263p.?c.635-9A>CUnknown
ENST00000425519p.E647*c.1939G>TSubstitution - Nonsense
MGAMENSG00000257335ENST00000549489p.V1169Vc.3507C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.R30Lc.89G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3744Lc.11231C>TSubstitution - Missense
LIPIENSG00000188992ENST00000344577p.K13Tc.38A>CSubstitution - Missense
ZNF350ENSG00000256683ENST00000243644p.C115*c.345C>ASubstitution - Nonsense
C2orf16ENSG00000221843ENST00000408964p.S1661Rc.4983C>ASubstitution - Missense
DYSFENSG00000135636ENST00000258104p.D1614Dc.4842C>TSubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.R1764*c.5290C>TSubstitution - Nonsense
CCDC114ENSG00000105479ENST00000315396p.N232Kc.696C>ASubstitution - Missense
SUGP1ENSG00000105705ENST00000247001p.?c.662+10T>CUnknown
RSPH6AENSG00000104941ENST00000221538p.R281Gc.841C>GSubstitution - Missense
ASB11ENSG00000165192ENST00000480796p.I189Tc.566T>CSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.T741Ac.2221A>GSubstitution - Missense
TAS2R40ENSG00000221937ENST00000408947p.S250Ic.749G>TSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.?c.1932-7G>AUnknown
ENST00000316490p.K3153Tc.9458A>CSubstitution - Missense
EZH2ENSG00000106462ENST00000320356p.F339Cc.1016T>GSubstitution - Missense
OR7C1ENSG00000127530ENST00000248073p.C179fs*2c.528_529insTInsertion - Frameshift
DLC1ENSG00000164741ENST00000316609p.?c.1023+7C>TUnknown
AKNAENSG00000106948ENST00000307564p.R60Cc.178C>TSubstitution - Missense
OR8H1ENSG00000181693ENST00000313022p.D19Nc.55G>ASubstitution - Missense
BCAS3ENSG00000141376ENST00000589222p.I743Fc.2227A>TSubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.R357Qc.1070G>ASubstitution - Missense
C11orf1ENSG00000137720ENST00000260276p.Q75Qc.225G>ASubstitution - coding silent
FJX1ENSG00000179431ENST00000317811p.V306Ic.916G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.L1361Lc.4083G>TSubstitution - coding silent
CAPS2ENSG00000180881ENST00000328705p.Q321Hc.963A>CSubstitution - Missense
MAGI3ENSG00000081026ENST00000307546p.N1190fs*4c.3564_3565insAInsertion - Frameshift
PICALMENSG00000073921ENST00000532317p.A540Ac.1620T>ASubstitution - coding silent
C6ENSG00000039537ENST00000263413p.?c.1459-6T>AUnknown
C14orf159ENSG00000133943ENST00000518665p.G137Rc.409G>ASubstitution - Missense
EXOC5ENSG00000070367ENST00000413566p.F654Sc.1961T>CSubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.S475Cc.1423A>TSubstitution - Missense
TEKT3ENSG00000125409ENST00000395930p.Y55Dc.163T>GSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.F778Cc.2333T>GSubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.T222Ic.665C>TSubstitution - Missense
LAMA3ENSG00000053747ENST00000269217p.A537Ac.1611G>ASubstitution - coding silent
GLP2RENSG00000065325ENST00000262441p.V293Gc.878T>GSubstitution - Missense
MST1ENSG00000173531ENST00000449682p.P416Pc.1248G>ASubstitution - coding silent
CNGA3ENSG00000144191ENST00000272602p.N447Nc.1341C>TSubstitution - coding silent
RBM11ENSG00000185272ENST00000400577p.E6Qc.16G>CSubstitution - Missense
ZNF600ENSG00000189190ENST00000360272p.M157Kc.470T>ASubstitution - Missense
NLRP13ENSG00000173572ENST00000342929p.L944Lc.2832G>ASubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.L963Mc.2887C>ASubstitution - Missense
DYSFENSG00000135636ENST00000410020p.D1653Dc.4959C>TSubstitution - coding silent
TCF7L1ENSG00000152284ENST00000282111p.?c.1334-2A>GUnknown
ANK2ENSG00000145362ENST00000357077p.E2118Gc.6353A>GSubstitution - Missense
RXFP3ENSG00000182631ENST00000330120p.Y455Cc.1364A>GSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.S948Fc.2843C>TSubstitution - Missense
ZBTB20ENSG00000181722ENST00000474710p.L683Pc.2048T>CSubstitution - Missense
SLC9A9ENSG00000181804ENST00000316549p.L487Rc.1460T>GSubstitution - Missense
ERCC1ENSG00000012061ENST00000013807p.A284Vc.851C>TSubstitution - Missense
MAP3K19ENSG00000176601ENST00000375845p.E636Gc.1907A>GSubstitution - Missense
RALBP1ENSG00000017797ENST00000019317p.L367Rc.1100T>GSubstitution - Missense
ENST00000573521_v68p.F369Vc.1105T>GSubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.V619Lc.1855G>CSubstitution - Missense
NM_004440p.Y365*c.1095C>GSubstitution - Nonsense
ENST00000388903p.A215Ac.645C>TSubstitution - coding silent
ETFDHENSG00000171503ENST00000511912p.?c.1285+7A>CUnknown
PACSIN1ENSG00000124507ENST00000244458p.K65Rc.194A>GSubstitution - Missense
ZNF496ENSG00000162714ENST00000366498p.F451Vc.1351T>GSubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.S485Rc.1453A>CSubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.S392Rc.1174A>CSubstitution - Missense
KIAA1107ENSG00000069712ENST00000409154p.R978Sc.2934A>TSubstitution - Missense
UBE4BENSG00000130939ENST00000377153p.T22Sc.64A>TSubstitution - Missense
EXO1ENSG00000174371ENST00000366548p.T594fs*12c.1781delCDeletion - Frameshift
MYO6ENSG00000196586ENST00000369981p.Q702Lc.2105A>TSubstitution - Missense
AIM1ENSG00000112297ENST00000535438p.Y203Yc.609T>CSubstitution - coding silent
PAMENSG00000145730ENST00000379787p.V183Mc.547G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.T22Sc.64A>TSubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.V1054Ic.3160G>ASubstitution - Missense
C4BPBENSG00000123843ENST00000367076p.K66Kc.198G>ASubstitution - coding silent
CEP170BENSG00000099814ENST00000414716p.K368Ec.1102A>GSubstitution - Missense
PAPLNENSG00000100767ENST00000427855p.A487Tc.1459G>ASubstitution - Missense
ATN1ENSG00000111676ENST00000396684p.H481Hc.1443T>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.I3293Vc.9877A>GSubstitution - Missense
PAFAH1B2ENSG00000168092ENST00000527958p.G4*c.10G>TSubstitution - Nonsense
ENST00000262017p.S522Cc.1564A>TSubstitution - Missense
INADLENSG00000132849ENST00000371158p.E601Ec.1803A>GSubstitution - coding silent
SMAD3ENSG00000166949ENST00000327367p.?c.401-7C>AUnknown
TTNENSG00000155657ENST00000360870p.A4109Vc.12326C>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.H1191Hc.3573C>TSubstitution - coding silent
NCOA6ENSG00000198646ENST00000374796p.T641Pc.1921A>CSubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.?c.1_104del4132Unknown
SIGLEC1ENSG00000088827ENST00000202578p.V365Ic.1093G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.L425Lc.1275G>ASubstitution - coding silent
BPTFENSG00000171634ENST00000306378p.E1482Dc.4446A>TSubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.A591Ec.1772C>ASubstitution - Missense
MMP19ENSG00000123342ENST00000394182p.R187Hc.560G>ASubstitution - Missense
SLC11A2ENSG00000110911ENST00000262051p.E288Dc.864A>TSubstitution - Missense
MCF2LENSG00000126217ENST00000423482p.N1008Tc.3023A>CSubstitution - Missense
PCDH9ENSG00000184226ENST00000377861p.I364Vc.1090A>GSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.L923Vc.2767C>GSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.E2298Kc.6892G>ASubstitution - Missense
PRDM2ENSG00000116731ENST00000376048p.S207Sc.621T>CSubstitution - coding silent
CRB1ENSG00000134376ENST00000535699p.Q626Qc.1878G>ASubstitution - coding silent
UBR4ENSG00000127481ENST00000375267p.?c.4511+3A>GUnknown
SRRM1ENSG00000133226ENST00000447431p.T867Ic.2600C>TSubstitution - Missense
SH3BP5LENSG00000175137ENST00000411742p.A221Vc.662C>TSubstitution - Missense
KCNK10ENSG00000100433ENST00000340700p.K212Nc.636A>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.S3018Tc.9053G>CSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.?c.4010+3A>GUnknown
MYO9AENSG00000066933ENST00000424560p.R1217*c.3649C>TSubstitution - Nonsense
DUOX1ENSG00000137857ENST00000561166p.T990Tc.2970T>GSubstitution - coding silent
CLEC16AENSG00000038532ENST00000381822p.L94Lc.282G>TSubstitution - coding silent
ZNF646ENSG00000167395ENST00000394979p.L443Lc.1329G>ASubstitution - coding silent
CA10ENSG00000154975ENST00000340813p.P182Pc.546A>GSubstitution - coding silent
PIEZO2ENSG00000154864ENST00000383408p.S272Rc.814A>CSubstitution - Missense
PTPRMENSG00000173482ENST00000400060p.E1057Kc.3169G>ASubstitution - Missense
ATP13A1ENSG00000105726ENST00000291503p.P963Pc.2889C>TSubstitution - coding silent
PCK1ENSG00000124253ENST00000535860p.S107Pc.319T>CSubstitution - Missense
SLC13A3ENSG00000158296ENST00000372121p.T184Ac.550A>GSubstitution - Missense
TTC3ENSG00000182670ENST00000540756p.L76Fc.226C>TSubstitution - Missense
RFX8ENSG00000196460ENST00000376826p.E268Kc.802G>ASubstitution - Missense
PPP6R2ENSG00000100239ENST00000216061p.A840Pc.2518G>CSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.S1650Sc.4950A>TSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.S1650Sc.4950A>TSubstitution - coding silent
PID1ENSG00000153823ENST00000354069p.D248Nc.742G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.R1994Qc.5981G>ASubstitution - Missense
THNSL2ENSG00000144115ENST00000343544p.H249Rc.746A>GSubstitution - Missense
KCNIP3ENSG00000115041ENST00000360990p.F111Lc.331T>CSubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.R1764*c.5290C>TSubstitution - Nonsense
DGUOKENSG00000114956ENST00000356837p.H201Hc.603T>CSubstitution - coding silent
FLNBENSG00000136068ENST00000357272p.R818Rc.2452C>ASubstitution - coding silent
RGS12ENSG00000159788ENST00000338806p.S215Sc.645T>CSubstitution - coding silent
RGS12ENSG00000159788ENST00000306648p.S261Sc.783T>CSubstitution - coding silent
RGS12ENSG00000159788ENST00000538395p.S205Sc.615T>CSubstitution - coding silent
UBN2ENSG00000157741ENST00000473989p.K292delKc.869_871delAGADeletion - In frame
SIMC1ENSG00000170085ENST00000429602p.M385Vc.1153A>GSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.A382Ac.1146C>TSubstitution - coding silent
FAM65BENSG00000111913ENST00000538035p.L299Rc.896T>GSubstitution - Missense
EPHA7ENSG00000135333ENST00000369303p.Y365*c.1095C>GSubstitution - Nonsense
ENST00000328843_v70p.K4050Kc.12150G>ASubstitution - coding silent
COL22A1ENSG00000169436ENST00000303045p.K1404Kc.4212A>GSubstitution - coding silent
DENND1AENSG00000119522ENST00000373620p.L138Pc.413T>CSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.D549Dc.1647C>TSubstitution - coding silent
ENST00000318560_v70p.K889Ec.2665A>GSubstitution - Missense
ABL1ENSG00000097007ENST00000318560p.K889Ec.2665A>GSubstitution - Missense
SETENSG00000119335ENST00000372688p.F178Fc.534C>TSubstitution - coding silent
DAPK1ENSG00000196730ENST00000469640p.T741Ac.2221A>GSubstitution - Missense
KIF27ENSG00000165115ENST00000376347p.?c.257-4A>TUnknown
PHKA1ENSG00000067177ENST00000373539p.E173Kc.517G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.T1566Tc.4698G>ASubstitution - coding silent
MYO9AENSG00000066933ENST00000356056p.R1217*c.3649C>TSubstitution - Nonsense
OBSCNENSG00000154358ENST00000284548p.R1489Cc.4465C>TSubstitution - Missense
KNDC1ENSG00000171798ENST00000304613p.A600Dc.1799C>ASubstitution - Missense
KRT6CENSG00000170465ENST00000252250p.S558Gc.1672A>GSubstitution - Missense
FAR1ENSG00000197601ENST00000354817p.A334Tc.1000G>ASubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.I1063Lc.3187A>CSubstitution - Missense
CLEC1BENSG00000165682ENST00000298527p.?c.438+1G>AUnknown
PDILTENSG00000169340ENST00000302451p.E167Ac.500A>CSubstitution - Missense
BRD4ENSG00000141867ENST00000263377p.P336Pc.1008C>TSubstitution - coding silent
OR7C1ENSG00000127530ENST00000248073p.L13Hc.38T>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.?c.4682-8A>CUnknown
ENST00000251268_v61p.?c.6059-8A>CUnknown
ZNF224ENSG00000267680ENST00000336976p.S217*c.650C>ASubstitution - Nonsense
IGSF23ENSG00000216588ENST00000402988p.I170Sc.509T>GSubstitution - Missense
SEMG1ENSG00000124233ENST00000372781p.N303Tc.908A>CSubstitution - Missense
ZMYND8ENSG00000101040ENST00000536340p.G446Ac.1337G>CSubstitution - Missense
ENST00000396601p.E86Dc.258A>TSubstitution - Missense
SLC7A4ENSG00000099960ENST00000382932p.L576Lc.1726C>TSubstitution - coding silent
SCN2AENSG00000136531ENST00000375427p.G658Wc.1972G>TSubstitution - Missense
KLHL23ENSG00000213160ENST00000392647p.K182Rc.545A>GSubstitution - Missense
FASTKD1ENSG00000138399ENST00000453153p.F512Sc.1535T>CSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.?c.7390+4A>TUnknown
XIRP2ENSG00000163092ENST00000295237p.E2071Vc.6212A>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.D354Nc.1060G>ASubstitution - Missense
XIRP2ENSG00000163092ENST00000409728p.D387Nc.1159G>ASubstitution - Missense
DLC1ENSG00000164741ENST00000511869p.?c.1023+7C>TUnknown
DLC1ENSG00000164741ENST00000276297p.?c.1023+7C>TUnknown
ZNF618ENSG00000157657ENST00000288466p.S392Rc.1174A>CSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.?c.4595+10C>GUnknown
SPTAN1ENSG00000197694ENST00000372731p.?c.4595+10C>GUnknown
SLC25A25ENSG00000148339ENST00000373068p.I189Mc.567C>GSubstitution - Missense
FPGSENSG00000136877ENST00000373247p.?c.1212-5C>GUnknown
DVL3ENSG00000161202ENST00000313143p.?c.980+8T>CUnknown
EIF4A2ENSG00000156976ENST00000323963p.G368Gc.1104G>ASubstitution - coding silent
FETUBENSG00000090512ENST00000265029p.K57Mc.170A>TSubstitution - Missense
TRIM61ENSG00000183439ENST00000329314p.P69Lc.206C>TSubstitution - Missense
TRIM60ENSG00000176979ENST00000512596p.S467Sc.1401A>CSubstitution - coding silent
NPY5RENSG00000164129ENST00000338566p.L397Rc.1190T>GSubstitution - Missense
TRAPPC11ENSG00000168538ENST00000334690p.N693Dc.2077A>GSubstitution - Missense
CDHR2ENSG00000074276ENST00000261944p.I579Ic.1737C>ASubstitution - coding silent
ENST00000345702p.M366Vc.1096A>GSubstitution - Missense
ENST00000254689p.Q12Qc.36G>ASubstitution - coding silent
NM_006622p.H545Nc.1633C>ASubstitution - Missense
GAPTENSG00000175857ENST00000396776p.S51Cc.151A>TSubstitution - Missense
SKIV2L2ENSG00000039123ENST00000230640p.P315Sc.943C>TSubstitution - Missense
VARSENSG00000204394ENST00000375663p.Q1216Qc.3648G>ASubstitution - coding silent
HLA-DRAENSG00000204287ENST00000395388p.T145Tc.435G>ASubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.E855delEc.2560_2562delGAGDeletion - In frame
PKHD1ENSG00000170927ENST00000340994p.?c.2141-3T>CUnknown
CDYLENSG00000153046ENST00000328908p.N282Nc.846C>TSubstitution - coding silent
GPR111ENSG00000164393ENST00000398742p.L395Vc.1183C>GSubstitution - Missense
GPR111ENSG00000164393ENST00000296862p.L463Vc.1387C>GSubstitution - Missense
ENST00000398800_v70p.E32Kc.94G>ASubstitution - Missense
ABLIM2ENSG00000163995ENST00000296372p.A110Ac.330C>TSubstitution - coding silent
GFRALENSG00000187871ENST00000340465p.K208Tc.623A>CSubstitution - Missense
GCLCENSG00000001084ENST00000229416p.V290Gc.869T>GSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.F1075Fc.3225C>TSubstitution - coding silent
ENST00000325103_v70p.T68Ic.203C>TSubstitution - Missense
KNDC1ENSG00000171798ENST00000368572p.A600Dc.1799C>ASubstitution - Missense
LRRC27ENSG00000148814ENST00000368610p.E372Gc.1115A>GSubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.F746Fc.2238C>TSubstitution - coding silent
BBIP1ENSG00000214413ENST00000448814p.S60Pc.178T>CSubstitution - Missense
CAMK2GENSG00000148660ENST00000322635p.?c.1010-10G>AUnknown
PGRENSG00000082175ENST00000325455p.S232Tc.694T>ASubstitution - Missense
TPH1ENSG00000129167ENST00000341556p.L197Vc.589T>GSubstitution - Missense
NM_032681.1p.?c.382+3G>AUnknown
OR4S2ENSG00000174982ENST00000312422p.L128Lc.382C>TSubstitution - coding silent
UBQLN3ENSG00000175520ENST00000311659p.R239Qc.716G>ASubstitution - Missense
TRIM48ENSG00000150244ENST00000417545p.A208Vc.623C>TSubstitution - Missense
NM_024114.2p.A192Vc.575C>TSubstitution - Missense
OR51M1ENSG00000184698ENST00000328611p.V260Mc.778G>ASubstitution - Missense
KSR2ENSG00000171435ENST00000339824p.H342Hc.1026C>TSubstitution - coding silent
SLFN12LENSG00000205045ENST00000449046p.T526Tc.1578T>GSubstitution - coding silent
SLFN12LENSG00000205045ENST00000361112p.T524Tc.1572T>GSubstitution - coding silent
SLFN13ENSG00000154760ENST00000285013p.F492Lc.1474T>CSubstitution - Missense
CYP1B1ENSG00000138061ENST00000260630p.A405Vc.1214C>TSubstitution - Missense
EIF2AK2ENSG00000055332ENST00000233057p.K521Rc.1562A>GSubstitution - Missense
FAM110CENSG00000184731ENST00000327669p.G259Sc.775G>ASubstitution - Missense
JUPENSG00000173801ENST00000393930p.Y480Yc.1440T>CSubstitution - coding silent
ZZEF1ENSG00000074755ENST00000381638p.?c.4883+4A>CUnknown
KRT19ENSG00000171345ENST00000361566p.R253Rc.757C>ASubstitution - coding silent
ABCC3ENSG00000108846ENST00000285238p.?c.2714+5G>TUnknown
ACBD4ENSG00000181513ENST00000398322p.G2Cc.4G>TSubstitution - Missense
NLRP1ENSG00000091592ENST00000262467p.N175Nc.525C>TSubstitution - coding silent
NLRP1ENSG00000091592ENST00000572272p.N175Nc.525C>TSubstitution - coding silent
SEPT4ENSG00000108387ENST00000426861p.S251Rc.751A>CSubstitution - Missense
ZNF850ENSG00000267041ENST00000591344p.R405Sc.1213C>ASubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.S712Fc.2135C>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.S712Fc.2135C>TSubstitution - Missense
ZNF639ENSG00000121864ENST00000326361p.L362Fc.1086A>CSubstitution - Missense
PCDHGB6ENSG00000253305ENST00000520790p.E80Qc.238G>CSubstitution - Missense
PCDHGA9ENSG00000261934ENST00000573521p.F369Vc.1105T>GSubstitution - Missense
POU4F3ENSG00000091010ENST00000230732p.A62Vc.185C>TSubstitution - Missense
KCTD16ENSG00000183775ENST00000512467p.A236Ac.708T>GSubstitution - coding silent
RPL7AENSG00000148303ENST00000323345p.L193Lc.579A>GSubstitution - coding silent
CDX1ENSG00000113722ENST00000231656p.G242fs*18c.720delGDeletion - Frameshift
PRUNE2ENSG00000106772ENST00000376718p.S185Pc.553T>CSubstitution - Missense
ENST00000376710p.S185Pc.553T>CSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.A1546Gc.4637C>GSubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.T741Ac.2221A>GSubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.K951Kc.2853A>GSubstitution - coding silent
KIF27ENSG00000165115ENST00000297814p.?c.2084-4A>TUnknown
CYP2F1ENSG00000197446ENST00000331105p.R187Hc.560G>ASubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.V285Ac.854T>CSubstitution - Missense
AFF2ENSG00000155966ENST00000286437p.S790Sc.2370G>ASubstitution - coding silent
ASB11ENSG00000165192ENST00000537676p.I168Tc.503T>CSubstitution - Missense
MATR3ENSG00000015479ENST00000394805p.?c.1308+10G>CUnknown
PCDHA11ENSG00000249158ENST00000398640p.E782*c.2344G>TSubstitution - Nonsense
PCDHB11ENSG00000197479ENST00000354757p.V549Lc.1645G>TSubstitution - Missense
DCTN4ENSG00000132912ENST00000447998p.Y182Yc.546T>CSubstitution - coding silent
HIST1H2AIENSG00000196747ENST00000358739p.R30Qc.89G>ASubstitution - Missense
HIST1H3HENSG00000203813ENST00000369163p.F79Fc.237C>TSubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.A261Ac.783C>TSubstitution - coding silent
NRMENSG00000137404ENST00000259953p.I59Ic.177C>TSubstitution - coding silent
MUC21ENSG00000204544ENST00000376296p.I282Ic.846C>ASubstitution - coding silent
CDHR3ENSG00000128536ENST00000317716p.L364Rc.1091T>GSubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.L364Rc.1091T>GSubstitution - Missense
TAS2R40ENSG00000221937ENST00000408947p.S250Ic.749G>TSubstitution - Missense
METENSG00000105976ENST00000318493p.V1380Vc.4140C>TSubstitution - coding silent
ZNF212ENSG00000170260ENST00000335870p.A47Ac.141T>GSubstitution - coding silent
NOS3ENSG00000164867ENST00000297494p.G440Sc.1318G>ASubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.W98Cc.294G>TSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.K1913*c.5737A>TSubstitution - Nonsense
GRHL2ENSG00000083307ENST00000251808p.R209Cc.625C>TSubstitution - Missense
ANKRD46ENSG00000186106ENST00000335659p.F200Cc.599T>GSubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.?c.1824-4T>GUnknown
VPS13BENSG00000132549ENST00000357162p.L2828Lc.8484T>CSubstitution - coding silent
TRHRENSG00000174417ENST00000518632p.D165Yc.493G>TSubstitution - Missense
ENST00000316490p.E2814Qc.8440G>CSubstitution - Missense
ENST00000309900p.E420Qc.1258G>CSubstitution - Missense
ENST00000316490_v65p.K3201Tc.9602A>CSubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.C27Yc.80G>ASubstitution - Missense
ENST00000316490_v65p.V1306Lc.3916G>TSubstitution - Missense
ENST00000316490p.V1258Lc.3772G>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.E1295Vc.3884A>TSubstitution - Missense
ECI1ENSG00000167969ENST00000301729p.P101Lc.302C>TSubstitution - Missense
CNTLNENSG00000044459ENST00000380647p.E986Qc.2956G>CSubstitution - Missense
CCDC171ENSG00000164989ENST00000380701p.V421Gc.1262T>GSubstitution - Missense
MSNENSG00000147065ENST00000360270p.R435*c.1303C>TSubstitution - Nonsense
ARR3ENSG00000120500ENST00000307959p.E152Gc.455A>GSubstitution - Missense
PHKA1ENSG00000067177ENST00000373542p.E173Kc.517G>ASubstitution - Missense
SLC16A2ENSG00000147100ENST00000276033p.S269Rc.805A>CSubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.P1081Pc.3243C>TSubstitution - coding silent
ZNF429ENSG00000197013ENST00000358491p.H471Hc.1413T>CSubstitution - coding silent
CCDC114ENSG00000105479ENST00000315396p.N25Kc.75C>ASubstitution - Missense
ENST00000354963p.L65Lc.193C>TSubstitution - coding silent
LCTENSG00000115850ENST00000264162p.P1281Lc.3842C>TSubstitution - Missense
WDR52ENSG00000206530ENST00000393845p.C364Cc.1092C>TSubstitution - coding silent
PHLDB2ENSG00000144824ENST00000431670p.S980Sc.2940T>GSubstitution - coding silent
PHLDB2ENSG00000144824ENST00000393923p.S964Sc.2892T>GSubstitution - coding silent
GAP43ENSG00000172020ENST00000305124p.Q18Pc.53A>CSubstitution - Missense
ZBTB20ENSG00000181722ENST00000357258p.L610Pc.1829T>CSubstitution - Missense
TFENSG00000091513ENST00000402696p.T355Kc.1064C>ASubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.P936Sc.2806C>TSubstitution - Missense
SETD7ENSG00000145391ENST00000274031p.T153Tc.459C>ASubstitution - coding silent
TDO2ENSG00000151790ENST00000536354p.Q305*c.913C>TSubstitution - Nonsense
ARFIP1ENSG00000164144ENST00000451320p.S183Sc.549G>ASubstitution - coding silent
ARFIP1ENSG00000164144ENST00000353617p.S183Sc.549G>ASubstitution - coding silent
ZFP42ENSG00000179059ENST00000326866p.A38Vc.113C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.S2372Ic.7115G>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.S2372Ic.7115G>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.G3619Gc.10857G>ASubstitution - coding silent
F11ENSG00000088926ENST00000403665p.?c.756-7T>AUnknown
FSTL4ENSG00000053108ENST00000265342p.R587Hc.1760G>ASubstitution - Missense
VCANENSG00000038427ENST00000265077p.D1339Ac.4016A>CSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.I483Vc.1447A>GSubstitution - Missense
ANKRD32ENSG00000133302ENST00000265140p.K997Ec.2989A>GSubstitution - Missense
ENST00000255667p.K361Ec.1081A>GSubstitution - Missense
L3MBTL4ENSG00000154655ENST00000400105p.I351Vc.1051A>GSubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.?c.3329-7A>GUnknown
ENST00000317726p.N51Hc.151A>CSubstitution - Missense
SOGA2ENSG00000168502ENST00000359865p.A68Dc.203C>ASubstitution - Missense
YES1ENSG00000176105ENST00000584307p.T94Ac.280A>GSubstitution - Missense
PLA2G6ENSG00000184381ENST00000332509p.F382Cc.1145T>GSubstitution - Missense
C22orf23ENSG00000128346ENST00000403305p.T24Tc.72T>GSubstitution - coding silent
APOL2ENSG00000128335ENST00000358502p.K68Ec.202A>GSubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.L1162Lc.3484C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000404898p.L1127Lc.3379C>TSubstitution - coding silent
AIM1ENSG00000112297ENST00000369066p.Y1384Yc.4152T>CSubstitution - coding silent
HDAC2ENSG00000196591ENST00000398283p.I148Tc.443T>CSubstitution - Missense
CDK19ENSG00000155111ENST00000368911p.I294Vc.880A>GSubstitution - Missense
AK9ENSG00000155085ENST00000424296p.E304Ac.911A>CSubstitution - Missense
AK9ENSG00000155085ENST00000285397p.E304Ac.911A>CSubstitution - Missense
ARMC2ENSG00000118690ENST00000392644p.S866Pc.2596T>CSubstitution - Missense
SLC35F1ENSG00000196376ENST00000360388p.?c.1003-5T>GUnknown
ZNF451ENSG00000112200ENST00000370706p.M272Lc.814A>TSubstitution - Missense
ZNF451ENSG00000112200ENST00000357489p.M272Lc.814A>TSubstitution - Missense
DSPENSG00000096696ENST00000379802p.?c.1903+2T>GUnknown
KHDC3LENSG00000203908ENST00000370367p.W33Lc.98G>TSubstitution - Missense
HIVEP1ENSG00000095951ENST00000379388p.R1029Sc.3087A>CSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.K912fs*>9c.2733delGDeletion - Frameshift
SIRT5ENSG00000124523ENST00000379250p.T164Pc.490A>CSubstitution - Missense
SIRT5ENSG00000124523ENST00000379262p.T164Pc.490A>CSubstitution - Missense
VNN1ENSG00000112299ENST00000367928p.S428Sc.1284T>CSubstitution - coding silent
ARG1ENSG00000118520ENST00000368087p.N319fs*>4c.955delADeletion - Frameshift
ZNF292ENSG00000188994ENST00000339907p.S1564Cc.4690A>TSubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.D2485Nc.7453G>ASubstitution - Missense
SUZ12ENSG00000178691ENST00000322652p.V31_A34delVAAAc.83_94del12Deletion - In frame
MDN1ENSG00000112159ENST00000369393p.G2707Gc.8121A>GSubstitution - coding silent
ENST00000449046_v65p.T526Tc.1578T>GSubstitution - coding silent
DGUOKENSG00000114956ENST00000264093p.H223Hc.669T>CSubstitution - coding silent
TET3ENSG00000187605ENST00000409262p.C693Cc.2079C>TSubstitution - coding silent
PLSCR2ENSG00000163746ENST00000497985p.R144Rc.430C>ASubstitution - coding silent
PLSCR2ENSG00000163746ENST00000336685p.R71Rc.211C>ASubstitution - coding silent
KCNAB1ENSG00000169282ENST00000490337p.K33Kc.99A>GSubstitution - coding silent
PLCH1ENSG00000114805ENST00000340059p.Y1688*c.5064T>GSubstitution - Nonsense
PLCH1ENSG00000114805ENST00000334686p.Y1650*c.4950T>GSubstitution - Nonsense
MFSD8ENSG00000164073ENST00000296468p.?c.699-8T>AUnknown
ANKRD50ENSG00000151458ENST00000504087p.T120Tc.360T>CSubstitution - coding silent
KIAA1109ENSG00000138688ENST00000264501p.V32Lc.94G>CSubstitution - Missense
CCNA2ENSG00000145386ENST00000274026p.E83Ec.249G>ASubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.K2910Ec.8728A>GSubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.V2902Vc.8706A>GSubstitution - coding silent
JADE1ENSG00000077684ENST00000226319p.K736Ec.2206A>GSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.R81Cc.241C>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.R129Cc.385C>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.S517Fc.1550C>TSubstitution - Missense
LTV1ENSG00000135521ENST00000367576p.L389Vc.1165T>GSubstitution - Missense
TENSG00000164458ENST00000296946p.G370Rc.1108G>ASubstitution - Missense
FAM221AENSG00000188732ENST00000344962p.A157Ac.471T>GSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.P2205Lc.6614C>TSubstitution - Missense
FAM188BENSG00000106125ENST00000265299p.?c.1678-7C>AUnknown
HOXA9ENSG00000078399ENST00000343483p.R29Sc.85C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Q374_Q375ins10c.1121_1122ins30Insertion - In frame
PCLOENSG00000186472ENST00000333891p.Q374_Q375ins10c.1121_1122ins30Insertion - In frame
PCLOENSG00000186472ENST00000333891p.K1341Kc.4023G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.K1272Kc.3816G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.A4061Ac.12183A>TSubstitution - coding silent
BRCC3ENSG00000185515ENST00000369462p.L315Vc.943C>GSubstitution - Missense
MAGEB6ENSG00000176746ENST00000379034p.S135Nc.404G>ASubstitution - Missense
ENST00000381114p.L1789Lc.5365T>CSubstitution - coding silent
GREB1ENSG00000196208ENST00000381483p.C328Fc.983G>TSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.F647Sc.1940T>CSubstitution - Missense
NYAP2ENSG00000144460ENST00000272907p.K431Nc.1293A>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.R1998Qc.5993G>ASubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.T1007Tc.3021G>ASubstitution - coding silent
XM_051221.5p.T1007Tc.3021G>ASubstitution - coding silent
COL4A3ENSG00000169031ENST00000396578p.?c.933+9T>CUnknown
COL4A3ENSG00000169031ENST00000396578p.S1108_G1110delSPGc.3307_3315delCCTGGAAGTDeletion - In frame
CHRNGENSG00000196811ENST00000389494p.T298Pc.892A>CSubstitution - Missense
ALPPL2ENSG00000163286ENST00000295453p.L209Fc.625C>TSubstitution - Missense
AGAP1ENSG00000157985ENST00000304032p.?c.957+9C>TUnknown
ASB18ENSG00000182177ENST00000409749p.T359Ac.1075A>GSubstitution - Missense
OTX1ENSG00000115507ENST00000282549p.S265Nc.794G>ASubstitution - Missense
ADCY5ENSG00000173175ENST00000462833p.S421Lc.1262C>TSubstitution - Missense
APLFENSG00000169621ENST00000303795p.K489Tc.1466A>CSubstitution - Missense
APLFENSG00000169621ENST00000303795p.E495Dc.1485A>CSubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.V402Mc.1204G>ASubstitution - Missense
CAND2ENSG00000144712ENST00000295989p.V309Mc.925G>ASubstitution - Missense
ENST00000160874p.A417Tc.1249G>ASubstitution - Missense
PPP6R2ENSG00000100239ENST00000359139p.A807Pc.2419G>CSubstitution - Missense
DHX30ENSG00000132153ENST00000445061p.V411Ic.1231G>ASubstitution - Missense
MAP1BENSG00000131711ENST00000296755p.L354Vc.1060T>GSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.G2455Rc.7363G>ASubstitution - Missense
DMGDHENSG00000132837ENST00000255189p.K764Ic.2291A>TSubstitution - Missense
BRPF3ENSG00000096070ENST00000357641p.R120Hc.359G>ASubstitution - Missense
ECI2ENSG00000198721ENST00000361538p.I209Vc.625A>GSubstitution - Missense
MUC3AENSG00000169894ENST00000319509p.S648Rc.1944C>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.S2824Rc.8472T>GSubstitution - Missense
GUSBENSG00000169919ENST00000304895p.S454Fc.1361C>TSubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.E736Dc.2208A>CSubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.E736Dc.2208A>CSubstitution - Missense
CLIC3ENSG00000169583ENST00000494426p.?c.143+10C>AUnknown
DMRTA1ENSG00000176399ENST00000325870p.A179Ac.537C>GSubstitution - coding silent
ENST00000356127p.E23732Kc.71194G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E17429Kc.52285G>ASubstitution - Missense
NM_003319p.E17237Kc.51709G>ASubstitution - Missense
ENST00000356127p.K16866Kc.50598G>ASubstitution - coding silent
NM_003319p.K10371Kc.31113G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.S8737Sc.26211C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.?c.14168-4A>GUnknown
NM_003319p.?c.13592-4A>GUnknown
TTNENSG00000155657ENST00000342992p.L12760Pc.38279T>CSubstitution - Missense
NM_003319p.L6263Pc.18788T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E13528Dc.40584A>CSubstitution - Missense
ENST00000356127p.E13528Dc.40584A>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.E7223Dc.21669A>CSubstitution - Missense
ANKRD44ENSG00000065413ENST00000424317p.R466Qc.1397G>ASubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.A451Gc.1352C>GSubstitution - Missense
GPR113ENSG00000173567ENST00000333478p.A252Gc.755C>GSubstitution - Missense
ACP1ENSG00000143727ENST00000272067p.P56Pc.168A>GSubstitution - coding silent
ATP2B2ENSG00000157087ENST00000360273p.N6Kc.18C>GSubstitution - Missense
GAS8ENSG00000141013ENST00000268699p.R287Wc.859C>TSubstitution - Missense
ENSG00000258947ENST00000315491p.?c.278-7T>GUnknown
ZNF28ENSG00000198538ENST00000438150p.M157Kc.470T>ASubstitution - Missense
LCLAT1ENSG00000172954ENST00000309052p.?c.111-9A>GUnknown
FAM179AENSG00000189350ENST00000379558p.A570Dc.1709C>ASubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.S1658Sc.4974A>TSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.S1658Sc.4974A>TSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.S1661Rc.4983C>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.F4553Lc.13657T>CSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.F4553Lc.13657T>CSubstitution - Missense
ENST00000405167p.S1018Cc.3053C>GSubstitution - Missense
ZNF518BENSG00000178163ENST00000326756p.T209Mc.626C>TSubstitution - Missense
ADH6ENSG00000172955ENST00000394899p.I92Nc.275T>ASubstitution - Missense
ADH6ENSG00000172955ENST00000237653p.I92Nc.275T>ASubstitution - Missense
GK2ENSG00000196475ENST00000358842p.V424Ac.1271T>CSubstitution - Missense
CCNG2ENSG00000138764ENST00000316355p.C328Cc.984C>TSubstitution - coding silent
WRNENSG00000165392ENST00000298139p.T781Ic.2342C>TSubstitution - Missense
TEX15ENSG00000133863ENST00000256246p.T2315Ic.6944C>TSubstitution - Missense
MEPEENSG00000152595ENST00000361056p.N104Dc.310A>GSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.P728Lc.2183C>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.L963Mc.2887C>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.P728Lc.2183C>TSubstitution - Missense
HGSNATENSG00000165102ENST00000458501p.I541Tc.1622T>CSubstitution - Missense
SYTL5ENSG00000147041ENST00000297875p.?c.1434+5A>GUnknown
DMDENSG00000198947ENST00000357033p.K225Ec.673A>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.K221Ec.661A>GSubstitution - Missense
AKAP4ENSG00000147081ENST00000358526p.S754Pc.2260T>CSubstitution - Missense
MAGED1ENSG00000179222ENST00000375695p.A204Ac.612C>TSubstitution - coding silent
MAGED1ENSG00000179222ENST00000375695p.W240*c.719G>ASubstitution - Nonsense
CCNB3ENSG00000147082ENST00000376042p.S1158Cc.3472A>TSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.I361Tc.1082T>CSubstitution - Missense
ZNF419ENSG00000105136ENST00000424930p.Q439Hc.1317A>CSubstitution - Missense
ZNF419ENSG00000105136ENST00000347466p.Q406Hc.1218A>CSubstitution - Missense
ENST00000284020p.Q413Hc.1239A>CSubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.K683Kc.2049A>GSubstitution - coding silent
ZNF544ENSG00000198131ENST00000269829p.S691fs*2c.2068_2069insGTAGInsertion - Frameshift
RFX8ENSG00000196460ENST00000428343p.E155Kc.463G>ASubstitution - Missense
TBC1D8ENSG00000204634ENST00000376840p.T224Mc.671C>TSubstitution - Missense
SEPT10ENSG00000186522ENST00000397714p.?c.960-7T>GUnknown
RANBP2ENSG00000153201ENST00000283195p.A3072Ac.9216G>ASubstitution - coding silent
CNTN4ENSG00000144619ENST00000418658p.?c.2398+8T>GUnknown
PAMENSG00000145730ENST00000304400p.V803Mc.2407G>ASubstitution - Missense
LYZL4ENSG00000157093ENST00000287748p.?c.371+9T>CUnknown
APCENSG00000134982ENST00000457016p.M1211Ic.3633G>ASubstitution - Missense
GIN1ENSG00000145723ENST00000399004p.I455Tc.1364T>CSubstitution - Missense
BEAN1ENSG00000166546ENST00000536005p.H188Qc.564C>GSubstitution - Missense
BCAS3ENSG00000141376ENST00000390652p.I758Fc.2272A>TSubstitution - Missense
APPBP2ENSG00000062725ENST00000083182p.T562Tc.1686C>ASubstitution - coding silent
CCDC144NLENSG00000205212ENST00000327925p.S177Ic.530G>TSubstitution - Missense
BPTFENSG00000171634ENST00000335221p.E1608Dc.4824A>TSubstitution - Missense
RAB34ENSG00000109113ENST00000453384p.P231fs*6c.692delCDeletion - Frameshift
RAB34ENSG00000109113ENST00000301043p.P173fs*6c.518delCDeletion - Frameshift
ENST00000262401p.?c.1081+8G>CUnknown
DNAH2ENSG00000183914ENST00000389173p.?c.12727-10C>TUnknown
LRRC45ENSG00000169683ENST00000306688p.E309Ec.927G>ASubstitution - coding silent
NM_015461.1p.C31Cc.93T>CSubstitution - coding silent
LAMA3ENSG00000053747ENST00000313654p.A2146Ac.6438G>ASubstitution - coding silent
NOL4ENSG00000101746ENST00000261592p.L81Lc.243C>GSubstitution - coding silent
THNSL2ENSG00000144115ENST00000324166p.H249Rc.746A>GSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.L520Lc.1560C>TSubstitution - coding silent
KCNIP3ENSG00000115041ENST00000468529p.F107Lc.319T>CSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.?c.3184+10G>AUnknown
GXYLT2ENSG00000172986ENST00000389617p.?c.853-10T>GUnknown
PSAPL1ENSG00000178597ENST00000319098p.L402Mc.1204C>ASubstitution - Missense
PSAPL1ENSG00000178597ENST00000319098p.L134Mc.400C>ASubstitution - Missense
NOD2ENSG00000167207ENST00000300589p.D70Dc.210C>TSubstitution - coding silent
CBLN1ENSG00000102924ENST00000219197p.D45Nc.133G>ASubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.V598Mc.1792G>ASubstitution - Missense
XM_290799.5p.N1215Dc.3643A>GSubstitution - Missense
KRTAP9-4ENSG00000241595ENST00000334109p.T109Tc.327A>GSubstitution - coding silent
KRTAP4-16PENSG00000241241ENST00000440582p.S14fs*184c.41_84>40Unknown
KRTAP6-3ENSG00000212938ENST00000391624p.D48Gc.143A>GSubstitution - Missense
C4orf19ENSG00000154274ENST00000381980p.S171Gc.511A>GSubstitution - Missense
ZBTB49ENSG00000168826ENST00000337872p.K583Tc.1748A>CSubstitution - Missense
BHLHE40ENSG00000134107ENST00000256495p.?c.258+3A>GUnknown
LAMB2ENSG00000172037ENST00000305544p.R95Hc.284G>ASubstitution - Missense
MANFENSG00000145050ENST00000528157p.I161Vc.481A>GSubstitution - Missense
MANFENSG00000145050ENST00000528157p.I161Vc.481A>GSubstitution - Missense
SMOC2ENSG00000112562ENST00000354536p.V246Ac.737T>CSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.V2436Ac.7307T>CSubstitution - Missense
FAM65BENSG00000111913ENST00000259698p.L270Rc.809T>GSubstitution - Missense
FAM65BENSG00000111913ENST00000378023p.L270Rc.809T>GSubstitution - Missense
TCTE3ENSG00000184786ENST00000366774p.P61Tc.181C>ASubstitution - Missense
HIST1H1EENSG00000168298ENST00000304218p.G56Gc.168C>ASubstitution - coding silent
UBN2ENSG00000157741ENST00000288561p.K209delKc.620_622delAGADeletion - In frame
ENSG00000257743ENST00000477922p.V463Vc.1389C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.V1169Vc.3507C>TSubstitution - coding silent
ANKIB1ENSG00000001629ENST00000265742p.N1064Sc.3191A>GSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.D3343Nc.10027G>ASubstitution - Missense
PPP1R9AENSG00000158528ENST00000433360p.P1073Pc.3219T>ASubstitution - coding silent
CYP3A7ENSG00000160870ENST00000336374p.A297Vc.890C>TSubstitution - Missense
MAF1ENSG00000179632ENST00000322428p.K87Rc.260A>GSubstitution - Missense
ENST00000355436p.R210Sc.630A>CSubstitution - Missense
XKR9ENSG00000221947ENST00000408926p.F370Vc.1108T>GSubstitution - Missense
NAT2ENSG00000156006ENST00000286479p.E264Dc.792A>CSubstitution - Missense
ASAH1ENSG00000104763ENST00000262097p.Q95Rc.284A>GSubstitution - Missense
TERF1ENSG00000147601ENST00000276602p.?c.1084-9T>CUnknown
ENSG00000235531ENST00000537896p.L69Lc.205C>TSubstitution - coding silent
DCCENSG00000187323ENST00000442544p.S1144Ic.3431G>TSubstitution - Missense
TUBB6ENSG00000176014ENST00000317702p.T72Tc.216C>ASubstitution - coding silent
PIEZO2ENSG00000154864ENST00000302079p.S984Rc.2950A>CSubstitution - Missense
KIR3DL1ENSG00000167633ENST00000391728p.R274Gc.820A>GSubstitution - Missense
MCM3APENSG00000160294ENST00000397708p.K461Ec.1381A>GSubstitution - Missense
BPIFB2ENSG00000078898ENST00000170150p.?c.577+9T>CUnknown
TTNENSG00000155657ENST00000359218p.I21730Tc.65189T>CSubstitution - Missense
ENST00000356127p.I28100Tc.84299T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I21797Tc.65390T>CSubstitution - Missense
NM_003319p.I21605Tc.64814T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.I28102Tc.84305T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E23734Kc.71200G>ASubstitution - Missense
TTLL6ENSG00000170703ENST00000393382p.P551fs*6c.1645_1646insACInsertion - Frameshift
JAG1ENSG00000101384ENST00000254958p.?c.755+7C>TUnknown
JAG1ENSG00000101384ENST00000254958p.?c.755+7C>TUnknown
JAG1ENSG00000101384ENST00000254958p.P531Rc.1592C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.I777Ic.2331C>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.I731Ic.2193C>ASubstitution - coding silent
NM_003319p.I731Ic.2193C>ASubstitution - coding silent
TTNENSG00000155657ENST00000360870p.I777Ic.2331C>ASubstitution - coding silent
MSTNENSG00000138379ENST00000260950p.T210Tc.630A>GSubstitution - coding silent
SSFA2ENSG00000138434ENST00000431877p.R786Qc.2357G>ASubstitution - Missense
SSFA2ENSG00000138434ENST00000320370p.R786Qc.2357G>ASubstitution - Missense
CRYGDENSG00000118231ENST00000264376p.E135Kc.403G>ASubstitution - Missense
DYTNENSG00000232125ENST00000452335p.A564Tc.1690G>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.K2962Tc.8885A>CSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.T141Tc.423C>TSubstitution - coding silent
TNS1ENSG00000079308ENST00000446903p.L104Lc.312C>TSubstitution - coding silent
VCPIP1ENSG00000175073ENST00000310421p.L189Lc.565C>TSubstitution - coding silent
PDE7AENSG00000205268ENST00000401827p.H269Hc.807T>CSubstitution - coding silent
PDE7AENSG00000205268ENST00000379419p.H243Hc.729T>CSubstitution - coding silent
DNAJC5BENSG00000147570ENST00000276570p.Y89Hc.265T>CSubstitution - Missense
ENST00000435384p.D284Ac.851A>CSubstitution - Missense
ATXN3LENSG00000123594ENST00000380622p.V164Vc.492T>GSubstitution - coding silent
STXBP2ENSG00000076944ENST00000221283p.L201Fc.603G>TSubstitution - Missense
IRS4ENSG00000133124ENST00000372129p.E101*c.301G>TSubstitution - Nonsense
MYOCDENSG00000141052ENST00000343344p.S905Sc.2715C>TSubstitution - coding silent
ITGB4ENSG00000132470ENST00000339591p.G1668Gc.5004G>ASubstitution - coding silent
USP36ENSG00000055483ENST00000312010p.F1087Vc.3259T>GSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.E758Ec.2274G>ASubstitution - coding silent
ZNF57ENSG00000171970ENST00000306908p.T290Tc.870T>GSubstitution - coding silent
ENST00000418100_v65p.Y478Nc.1432T>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
TRPM4ENSG00000130529ENST00000252826p.F80Vc.238T>GSubstitution - Missense
KLK8ENSG00000129455ENST00000391806p.A36Ac.108G>ASubstitution - coding silent
KCNC3ENSG00000131398ENST00000477616p.R435Cc.1303C>TSubstitution - Missense
LAIR2ENSG00000167618ENST00000301202p.S32Sc.96G>ASubstitution - coding silent
KLK14ENSG00000129437ENST00000391802p.D188Nc.562G>ASubstitution - Missense
NM_022046.3p.D172Nc.514G>ASubstitution - Missense
KDM4BENSG00000127663ENST00000159111p.?c.2737-6T>CUnknown
CEP250ENSG00000126001ENST00000397527p.?c.3168-7T>GUnknown
C20orf173ENSG00000125975ENST00000444723p.?c.488+7G>AUnknown
C20orf173ENSG00000125975ENST00000246199p.?c.329+7G>AUnknown
NCOA6ENSG00000198646ENST00000374796p.G475Gc.1425T>GSubstitution - coding silent
C20orf194ENSG00000088854ENST00000252032p.N1154Tc.3461A>CSubstitution - Missense
CDK5RAP1ENSG00000101391ENST00000346416p.S38Gc.112A>GSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.V365Ic.1093G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000371754p.?c.1_104del4132Unknown
ZNF831ENSG00000124203ENST00000371030p.C153Fc.458G>TSubstitution - Missense
CASS4ENSG00000087589ENST00000360314p.G229Gc.687C>TSubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.F37Cc.110T>GSubstitution - Missense
SS18L1ENSG00000184402ENST00000421564p.I21Ic.63C>TSubstitution - coding silent
STRIP2ENSG00000128578ENST00000249344p.T90Ic.269C>TSubstitution - Missense
CALUENSG00000128595ENST00000542996p.Q120Qc.360A>GSubstitution - coding silent
INSL4ENSG00000120211ENST00000239316p.P122Qc.365C>ASubstitution - Missense
XM_291314.4p.A701Tc.2101G>ASubstitution - Missense
ENST00000377290p.?c.1201+4A>CUnknown
FLNBENSG00000136068ENST00000490882p.R818Rc.2452C>ASubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.R818Rc.2452C>ASubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.S1159Lc.3476C>TSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.A561Ac.1683C>TSubstitution - coding silent
C3orf49ENSG00000163632ENST00000295896p.I261Tc.782T>CSubstitution - Missense
RHOBTB2ENSG00000008853ENST00000251822p.E349Kc.1045G>ASubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.G846Rc.2536G>ASubstitution - Missense
NUGGCENSG00000189233ENST00000413272p.R653Mc.1958G>TSubstitution - Missense
NBNENSG00000104320ENST00000265433p.T717Ac.2149A>GSubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.?c.2630-8C>TUnknown
SLC12A1ENSG00000074803ENST00000380993p.?c.2630-8C>TUnknown
TTC22ENSG00000006555ENST00000371274p.K222Ec.664A>GSubstitution - Missense
FSCBENSG00000189139ENST00000340446p.G246Gc.738T>GSubstitution - coding silent
ARHGAP5ENSG00000100852ENST00000345122p.N155Tc.464A>CSubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.Q469Ec.1405C>GSubstitution - Missense
CYFIP1ENSG00000068793ENST00000313077p.N1002Tc.3005A>CSubstitution - Missense
CYFIP1ENSG00000068793ENST00000435939p.N571Tc.1712A>CSubstitution - Missense
IPO8ENSG00000133704ENST00000256079p.P104Sc.310C>TSubstitution - Missense
FGD4ENSG00000139132ENST00000427716p.T125Mc.374C>TSubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.R75Hc.224G>ASubstitution - Missense
RENENSG00000143839ENST00000272190p.D211Nc.631G>ASubstitution - Missense
PKP1ENSG00000081277ENST00000263946p.P216Pc.648G>ASubstitution - coding silent
POLR2MENSG00000255529ENST00000299638p.P10Tc.28C>ASubstitution - Missense
POLR2MENSG00000255529ENST00000380563p.P10Tc.28C>ASubstitution - Missense
CGNL1ENSG00000128849ENST00000281282p.Y785Fc.2354A>TSubstitution - Missense
PICALMENSG00000073921ENST00000532317p.D203Nc.607G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.F715Lc.2145T>GSubstitution - Missense
DENND5AENSG00000184014ENST00000328194p.Y314Cc.941A>GSubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.L109Fc.327G>TSubstitution - Missense
STX2ENSG00000111450ENST00000261653p.D161Dc.483C>TSubstitution - coding silent
PRDM2ENSG00000116731ENST00000235372p.F1716Lc.5146T>CSubstitution - Missense
PRAMEF18ENSG00000204491ENST00000376126p.I369Vc.1105A>GSubstitution - Missense
SRRM1ENSG00000133226ENST00000323848p.T855Ic.2564C>TSubstitution - Missense
SH3BP5LENSG00000175137ENST00000366472p.A253Vc.758C>TSubstitution - Missense
MAP3K6ENSG00000142733ENST00000493901p.S268Sc.804C>TSubstitution - coding silent
WDTC1ENSG00000142784ENST00000361771p.Q354Qc.1062A>GSubstitution - coding silent
JAK1ENSG00000162434ENST00000342505p.K205Tc.614A>CSubstitution - Missense
ESPNENSG00000187017ENST00000377828p.K847Rc.2540A>GSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.E546Kc.1636G>ASubstitution - Missense
REREENSG00000142599ENST00000400908p.F1347Cc.4040T>GSubstitution - Missense
WDHD1ENSG00000198554ENST00000360586p.Q597Hc.1791G>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.S6656Tc.19967G>CSubstitution - Missense
KCNH5ENSG00000140015ENST00000322893p.T568Tc.1704C>GSubstitution - coding silent
GPHNENSG00000171723ENST00000478722p.?c.64+8G>CUnknown
CCDC88CENSG00000015133ENST00000389857p.D484Dc.1452C>TSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.D484Dc.1452C>TSubstitution - coding silent
XM_170754.4p.S349Sc.1047T>ASubstitution - coding silent
SMAD3ENSG00000166949ENST00000439724p.?c.269-7C>AUnknown
DENND4AENSG00000174485ENST00000443035p.D298Gc.893A>GSubstitution - Missense
DENND4AENSG00000174485ENST00000431932p.D298Gc.893A>GSubstitution - Missense
UACAENSG00000137831ENST00000322954p.L1072Sc.3215T>CSubstitution - Missense
UACAENSG00000137831ENST00000379983p.L1059Sc.3176T>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375601p.N1014Tc.3041A>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375604p.N1067Tc.3200A>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375608p.N1040Tc.3119A>CSubstitution - Missense
CDC16ENSG00000130177ENST00000360383p.L108Vc.322T>GSubstitution - Missense
F10ENSG00000126218ENST00000375559p.E412Ec.1236G>ASubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.?c.1574-5T>AUnknown
DISP2ENSG00000140323ENST00000267889p.L1340Mc.4018C>ASubstitution - Missense
RASGRP1ENSG00000172575ENST00000310803p.L331Lc.993G>CSubstitution - coding silent
AQRENSG00000021776ENST00000156471p.L199Lc.597G>ASubstitution - coding silent
RAI14ENSG00000039560ENST00000265109p.F57Sc.170T>CSubstitution - Missense
NM_006293p.L595Vc.1783T>GSubstitution - Missense
DLL4ENSG00000128917ENST00000249749p.R676Kc.2027G>ASubstitution - Missense
INO80ENSG00000128908ENST00000361937p.E1321Dc.3963G>TSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.E1321Dc.3963G>TSubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.Y1078Hc.3232T>CSubstitution - Missense
PRLRENSG00000113494ENST00000382002p.K466Tc.1397A>CSubstitution - Missense
WDR59ENSG00000103091ENST00000262144p.C545Cc.1635C>TSubstitution - coding silent
MAPTENSG00000186868ENST00000344290p.A261Sc.781G>TSubstitution - Missense
SPATA32ENSG00000184361ENST00000331780p.N291Yc.871A>TSubstitution - Missense
COL1A1ENSG00000108821ENST00000225964p.R1405Cc.4213C>TSubstitution - Missense
ENST00000305326p.P277fs*6c.823_824insACInsertion - Frameshift
CLSPNENSG00000092853ENST00000251195p.A530Dc.1589C>ASubstitution - Missense
CHRNA7ENSG00000175344ENST00000306901p.P376Lc.1127C>TSubstitution - Missense
FBLIM1ENSG00000162458ENST00000375771p.D96Dc.288C>TSubstitution - coding silent
NM_000696.2p.S69Cc.206C>GSubstitution - Missense
FBXO42ENSG00000037637ENST00000375592p.?c.1038+1G>AUnknown
ALDH9A1ENSG00000143149ENST00000354775p.S93Cc.278C>GSubstitution - Missense
NUF2ENSG00000143228ENST00000367900p.E274Ec.822G>ASubstitution - coding silent
NUF2ENSG00000143228ENST00000271452p.E274Ec.822G>ASubstitution - coding silent
BRSK2ENSG00000174672ENST00000382179p.I203Ic.609C>TSubstitution - coding silent
BRSK2ENSG00000174672ENST00000308219p.I157Ic.471C>TSubstitution - coding silent
B3GAT1ENSG00000109956ENST00000392580p.L32Lc.96G>ASubstitution - coding silent
TPH1ENSG00000129167ENST00000250018p.L197Vc.589T>GSubstitution - Missense
DHX9ENSG00000135829ENST00000367549p.H483Rc.1448A>GSubstitution - Missense
KRR1ENSG00000111615ENST00000229214p.S170Sc.510T>CSubstitution - coding silent
CAPS2ENSG00000180881ENST00000409445p.Q553Hc.1659A>CSubstitution - Missense
HTR3AENSG00000166736ENST00000355556p.H493Hc.1479C>TSubstitution - coding silent
TMPRSS4ENSG00000137648ENST00000437212p.D163Vc.488A>TSubstitution - Missense
NM_000926.2p.S232Tc.694T>ASubstitution - Missense
ENST00000298815_v65p.?c.934-9T>AUnknown
ARHGEF12ENSG00000196914ENST00000397843p.K16Nc.48A>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.Y1340fs*1c.4020delCDeletion - Frameshift
C11orf65ENSG00000166323ENST00000393084p.L41*c.122T>ASubstitution - Nonsense
ATMENSG00000149311ENST00000278616p.?c.3154-5C>TUnknown
NPATENSG00000149308ENST00000278612p.Q943*c.2827C>TSubstitution - Nonsense
PSMD13ENSG00000185627ENST00000532097p.?c.265+4A>TUnknown
SLC17A6ENSG00000091664ENST00000263160p.P504Sc.1510C>TSubstitution - Missense
ANO5ENSG00000171714ENST00000324559p.K63Nc.189A>CSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.W728*c.2184G>ASubstitution - Nonsense
NAV2ENSG00000166833ENST00000360655p.L336Vc.1006T>GSubstitution - Missense
CD44ENSG00000026508ENST00000428726p.W408*c.1224G>ASubstitution - Nonsense
MPPED2ENSG00000066382ENST00000448418p.P216Pc.648T>CSubstitution - coding silent
CELSR2ENSG00000143126ENST00000271332p.L2540Vc.7618C>GSubstitution - Missense
PHTF1ENSG00000116793ENST00000412670p.?c.537-9T>CUnknown
HMCN1ENSG00000143341ENST00000271588p.T3873Tc.11619C>TSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.L372Rc.1115T>GSubstitution - Missense
NBPF20ENSG00000203832ENST00000369202p.?c.11427-80_12159-82del4759Unknown
FMO5ENSG00000131781ENST00000254090p.C147Fc.440G>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.K1918Nc.5754G>CSubstitution - Missense
PLA2G4AENSG00000116711ENST00000367466p.P44Hc.131C>ASubstitution - Missense
TELO2ENSG00000100726ENST00000262319p.I107Ic.321C>ASubstitution - coding silent
ZNF281ENSG00000162702ENST00000367353p.S383Lc.1148C>TSubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.Q695Qc.2085G>ASubstitution - coding silent
DCLRE1CENSG00000152457ENST00000378278p.S567fs*12c.1694_1695insAAACInsertion - Frameshift
KIAA1217ENSG00000120549ENST00000376454p.S1369Rc.4105A>CSubstitution - Missense
HEATR4ENSG00000187105ENST00000334988p.R726Kc.2177G>ASubstitution - Missense
SSTR5ENSG00000162009ENST00000397547p.A230Vc.689C>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.M1918Lc.5752A>TSubstitution - Missense
ENST00000417177p.M1925Lc.5773A>TSubstitution - Missense
OGDHLENSG00000197444ENST00000374103p.A533Ac.1599C>TSubstitution - coding silent
DNA2ENSG00000138346ENST00000399180p.L1064Pc.3191T>CSubstitution - Missense
DNA2ENSG00000138346ENST00000358410p.L978Pc.2933T>CSubstitution - Missense
SLC22A24ENSG00000197658ENST00000417740p.K145Tc.434A>CSubstitution - Missense
STIP1ENSG00000168439ENST00000305218p.H521Nc.1561C>ASubstitution - Missense
GNL2ENSG00000134697ENST00000373062p.E196*c.586G>TSubstitution - Nonsense
SMAP2ENSG00000084070ENST00000372718p.M340Tc.1019T>CSubstitution - Missense
MFSD2AENSG00000168389ENST00000372811p.?c.714+7C>AUnknown
MACF1ENSG00000127603ENST00000360115p.D5634Nc.16900G>ASubstitution - Missense
SLC6A9ENSG00000196517ENST00000360584p.?c.1181+8C>AUnknown
VSIG10ENSG00000176834ENST00000359236p.S176Cc.527C>GSubstitution - Missense
RFC5ENSG00000111445ENST00000454402p.M202Ic.606G>ASubstitution - Missense
WDR66ENSG00000158023ENST00000288912p.A929Ac.2787G>ASubstitution - coding silent
EHD4ENSG00000103966ENST00000220325p.D516Nc.1546G>ASubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.T1344Tc.4032T>GSubstitution - coding silent
FBN1ENSG00000166147ENST00000316623p.P350Pc.1050A>GSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.?c.848+4A>CUnknown
RYR2ENSG00000198626ENST00000366574p.G286Rc.856G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.S4480Sc.13440C>TSubstitution - coding silent
ABCC9ENSG00000069431ENST00000261200p.V1266Lc.3796G>TSubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.V1266Lc.3796G>TSubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.N519Nc.1557C>TSubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.N519Nc.1557C>TSubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.Q108Ec.322C>GSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.P285Pc.855C>TSubstitution - coding silent
SLC4A8ENSG00000050438ENST00000394856p.K88Tc.263A>CSubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.R665Qc.1994G>ASubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.S2077Yc.6230C>ASubstitution - Missense
RNF169ENSG00000166439ENST00000299563p.S636Sc.1908C>TSubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.T649Kc.1946C>ASubstitution - Missense
ENST00000368915p.T649Kc.1946C>ASubstitution - Missense
NM_001380.2p.F746Fc.2238C>TSubstitution - coding silent
ADAM12ENSG00000148848ENST00000368676p.L287Lc.859C>TSubstitution - coding silent
ENST00000368577p.P851Sc.2551C>TSubstitution - Missense
TDRD9ENSG00000156414ENST00000409874p.H334Nc.1000C>ASubstitution - Missense
TNFAIP2ENSG00000185215ENST00000333007p.H460Dc.1378C>GSubstitution - Missense
TNFAIP2ENSG00000185215ENST00000333007p.A614Tc.1840G>ASubstitution - Missense
JAG2ENSG00000184916ENST00000331782p.I460Ic.1380C>TSubstitution - coding silent
ENST00000320322p.I16Lc.46A>CSubstitution - Missense
TM9SF1ENSG00000100926ENST00000261789p.S217Gc.649A>GSubstitution - Missense
MS4A1ENSG00000156738ENST00000389939p.L147Lc.441A>GSubstitution - coding silent
INCENPENSG00000149503ENST00000394818p.P484Pc.1452A>GSubstitution - coding silent
SYT12ENSG00000173227ENST00000393946p.S11Sc.33C>TSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.T2437Tc.7311A>GSubstitution - coding silent
CTTNENSG00000085733ENST00000301843p.S117Sc.351G>ASubstitution - coding silent
ZNF215ENSG00000149054ENST00000278319p.V104Ic.310G>ASubstitution - Missense
CTTNENSG00000085733ENST00000301843p.S117Sc.351G>ASubstitution - coding silent
NM_130398.2p.T594fs*12c.1781delCDeletion - Frameshift
TCF7L2ENSG00000148737ENST00000543371p.E38Qc.112G>CSubstitution - Missense
TCF7L2ENSG00000148737ENST00000543371p.?c.685+10G>TUnknown
TCF7L2ENSG00000148737ENST00000355717p.?c.757+10G>TUnknown
SMC3ENSG00000108055ENST00000361804p.G1107Ac.3320G>CSubstitution - Missense
PNLIPRP1ENSG00000187021ENST00000358834p.E179Ec.537G>ASubstitution - coding silent
ATRNL1ENSG00000107518ENST00000355044p.I816Ic.2448C>TSubstitution - coding silent
HPS1ENSG00000107521ENST00000325103p.T68Ic.203C>TSubstitution - Missense
DHTKD1ENSG00000181192ENST00000263035p.T787delTc.2355_2357delAACDeletion - In frame
IPO7ENSG00000205339ENST00000379719p.E230*c.688G>TSubstitution - Nonsense
SORCS1ENSG00000108018ENST00000344440p.Q401*c.1201C>TSubstitution - Nonsense
SORCS1ENSG00000108018ENST00000263054p.Q401*c.1201C>TSubstitution - Nonsense
CCDC147ENSG00000120051ENST00000369704p.A625Ac.1875T>CSubstitution - coding silent
SYCP3ENSG00000139351ENST00000392924p.?c.454-10A>CUnknown
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
PABPC3ENSG00000151846ENST00000281589p.L572Pc.1715T>CSubstitution - Missense
RNF17ENSG00000132972ENST00000255324p.K746Kc.2238A>GSubstitution - coding silent
DCLK1ENSG00000133083ENST00000255448p.R442Kc.1325G>ASubstitution - Missense
NBEAENSG00000172915ENST00000310336p.L923Vc.2767C>GSubstitution - Missense
FRYENSG00000073910ENST00000380250p.V653Gc.1958T>GSubstitution - Missense
ENST00000239854p.F34Vc.100T>GSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.I1063Lc.3187A>CSubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.R711Kc.2132G>ASubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.I230Vc.688A>GSubstitution - Missense
RNF19BENSG00000116514ENST00000373456p.G169Gc.507G>ASubstitution - coding silent
ZMYM4ENSG00000146463ENST00000314607p.C1278Cc.3834C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000241312p.L2338Rc.7013T>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.D3463Nc.10387G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.D3607Nc.10819G>ASubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.L234Vc.700C>GSubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.?c.786+10G>CUnknown
ENST00000450802_v68p.?c.786+10G>CUnknown
CLSPNENSG00000092853ENST00000318121p.A530Dc.1589C>ASubstitution - Missense
ENST00000447890p.A590Ac.1770T>ASubstitution - coding silent
TBC1D7ENSG00000145979ENST00000379300p.V145Vc.435G>ASubstitution - coding silent
GIMAP8ENSG00000171115ENST00000307271p.R596Qc.1787G>ASubstitution - Missense
ERP44ENSG00000023318ENST00000262455p.Y175Cc.524A>GSubstitution - Missense
NM_032217.3p.A927Vc.2780C>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.D2702Nc.8104G>ASubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.D88Nc.262G>ASubstitution - Missense
TPTE2ENSG00000132958ENST00000390680p.G79Ac.236G>CSubstitution - Missense
SERHL2ENSG00000183569ENST00000327678p.T268Tc.804G>ASubstitution - coding silent
RAB3GAP1ENSG00000115839ENST00000264158p.D756Nc.2266G>ASubstitution - Missense
STAT3ENSG00000168610ENST00000264657p.Y640Fc.1919A>TSubstitution - Missense
NLGN3ENSG00000196338ENST00000358741p.L839Mc.2515C>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.R2004Wc.6010C>TSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.E2298Kc.6892G>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.T3371Tc.10113T>GSubstitution - coding silent
NM_014363.3p.T3224Tc.9672T>GSubstitution - coding silent
NCLENSG00000115053ENST00000322723p.E38delEc.114_116delAGADeletion - In frame
CREBZFENSG00000137504ENST00000490820p.P51Sc.151C>TSubstitution - Missense
NPRL3ENSG00000103148ENST00000399953p.P136Pc.408G>ASubstitution - coding silent
NM_032457.1p.R1091Cc.3271C>TSubstitution - Missense
FAM110BENSG00000169122ENST00000361488p.G110Gc.330C>TSubstitution - coding silent
PHLDB2ENSG00000144824ENST00000412622p.I193Ic.579C>TSubstitution - coding silent
RILPENSG00000167705ENST00000301336p.G233Wc.697G>TSubstitution - Missense
PARP14ENSG00000173193ENST00000474629p.S1688Sc.5064C>TSubstitution - coding silent
CENPFENSG00000117724ENST00000366955p.T617Pc.1849A>CSubstitution - Missense
OR6C74ENSG00000197706ENST00000343870p.A273Ac.819T>ASubstitution - coding silent
C12orf10ENSG00000139637ENST00000267103p.S30Cc.89C>GSubstitution - Missense
LMAN1LENSG00000140506ENST00000309664p.H177Hc.531T>CSubstitution - coding silent
RCBTB1ENSG00000136144ENST00000378302p.S317Sc.951C>GSubstitution - coding silent
PCDH9ENSG00000184226ENST00000377865p.I364Vc.1090A>GSubstitution - Missense
CKAP2ENSG00000136108ENST00000258607p.?c.231+5G>TUnknown
TAS2R19ENSG00000212124ENST00000390673p.T221Pc.661A>CSubstitution - Missense
ACAD10ENSG00000111271ENST00000313698p.A560Ec.1679C>ASubstitution - Missense
IRG1ENSG00000102794ENST00000377462p.D344Nc.1030G>ASubstitution - Missense
TBC1D4ENSG00000136111ENST00000377636p.Q1264Hc.3792A>CSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.G1477Rc.4429G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.G1465Rc.4393G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.T22Sc.64A>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.E472Kc.1414G>ASubstitution - Missense
TGFB2ENSG00000092969ENST00000366929p.V17Vc.51C>TSubstitution - coding silent
TGFB2ENSG00000092969ENST00000366930p.V17Vc.51C>TSubstitution - coding silent
BMS1ENSG00000165733ENST00000374518p.F433Sc.1298T>CSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.E198Qc.592G>CSubstitution - Missense
MARK1ENSG00000116141ENST00000366917p.?c.52-8T>CUnknown
TGFB2ENSG00000092969ENST00000366930p.P351Pc.1053G>CSubstitution - coding silent
CAMK2GENSG00000148660ENST00000322680p.?c.947-10G>AUnknown
CAMK2GENSG00000148660ENST00000351293p.?c.947-10G>AUnknown
OBSCNENSG00000154358ENST00000359599p.R1489Cc.4465C>TSubstitution - Missense
SFTPA2ENSG00000185303ENST00000372325p.G52Gc.156A>CSubstitution - coding silent
PLCE1ENSG00000138193ENST00000260766p.R499Hc.1496G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.R191Hc.572G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.R499Hc.1496G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.T1034Tc.3102T>GSubstitution - coding silent
ZFYVE27ENSG00000155256ENST00000356257p.P311Pc.933G>TSubstitution - coding silent
MICAL2ENSG00000133816ENST00000256194p.F692Vc.2074T>GSubstitution - Missense
MICAL2ENSG00000133816ENST00000379612p.F692Vc.2074T>GSubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.G556Sc.1666G>ASubstitution - Missense
OR10T2ENSG00000186306ENST00000334438p.L214Lc.640T>CSubstitution - coding silent
CD1BENSG00000158485ENST00000368168p.L179Pc.536T>CSubstitution - Missense
PLEKHG6ENSG00000008323ENST00000011684p.?c.867+3G>TUnknown
CEP290ENSG00000198707ENST00000552810p.K2222Kc.6666A>GSubstitution - coding silent
NM_001004342.2p.D685Yc.2053G>TSubstitution - Missense
URB2ENSG00000135763ENST00000258243p.Q1221*c.3661C>TSubstitution - Nonsense
C1QCENSG00000159189ENST00000374637p.D150Nc.448G>ASubstitution - Missense


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID