Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

HCC1395 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

828 mutations reported
225 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
PTBP3ENSG00000119314ENST00000374255p.K49Ec.145A>GSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000517417p.S655Fc.1964C>TSubstitution - Missense
SERPINB1ENSG00000021355ENST00000380739p.?c.736-1G>CUnknown
ENST00000377143p.F250Lc.750C>GSubstitution - Missense
EPS15L1ENSG00000127527ENST00000248070p.T861Tc.2583C>TSubstitution - coding silent
IL27RAENSG00000104998ENST00000263379p.A428Ac.1284C>TSubstitution - coding silent
HES1ENSG00000114315ENST00000232424p.?c.293-11_313del32Unknown
MAST3ENSG00000099308ENST00000262811p.R703Qc.2108G>ASubstitution - Missense
VPS16ENSG00000215305ENST00000380443p.L305Fc.913C>TSubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.E162Kc.484G>ASubstitution - Missense
PODXLENSG00000128567ENST00000541194p.Q496*c.1486C>TSubstitution - Nonsense
ARHGAP28ENSG00000088756ENST00000400091p.N51Tc.152A>CSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.Q585Ec.1753C>GSubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.Q565Hc.1695G>CSubstitution - Missense
ASIC2ENSG00000108684ENST00000359872p.P363Ac.1087C>GSubstitution - Missense
ENST00000316490_v65p.R2401Rc.7203G>ASubstitution - coding silent
PRAMEENSG00000185686ENST00000398741p.P366Lc.1097C>TSubstitution - Missense
RASSF4ENSG00000107551ENST00000334940p.E137*c.409G>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000420246p.R175Hc.524G>ASubstitution - Missense
COL16A1ENSG00000084636ENST00000271069p.E1184Kc.3550G>ASubstitution - Missense
SUPT3HENSG00000196284ENST00000371458p.T28Tc.84C>GSubstitution - coding silent
CCNT1ENSG00000129315ENST00000261900p.I698Mc.2094C>GSubstitution - Missense
MAKENSG00000111837ENST00000313243p.R272Pc.815G>CSubstitution - Missense
SLC25A30ENSG00000174032ENST00000519676p.M228Ic.684G>ASubstitution - Missense
MAOAENSG00000189221ENST00000338702p.D15Ec.45C>ASubstitution - Missense
STAT1ENSG00000115415ENST00000361099p.P491Ac.1471C>GSubstitution - Missense
ZKSCAN2ENSG00000155592ENST00000328086p.E420Kc.1258G>ASubstitution - Missense
SPPL2CENSG00000185294ENST00000329196p.T333Tc.999C>TSubstitution - coding silent
PLA2G4AENSG00000116711ENST00000367466p.R467Cc.1399C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.L1421Lc.4263C>TSubstitution - coding silent
COL2A1ENSG00000139219ENST00000337299p.G273fs*278c.818_845del28Deletion - Frameshift
FCRLAENSG00000132185ENST00000367959p.G375Vc.1124G>TSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.E462Ec.1386G>ASubstitution - coding silent
SMCO2ENSG00000165935ENST00000416383p.S265Fc.794C>TSubstitution - Missense
SMCO2ENSG00000165935ENST00000298876p.S215Fc.644C>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.P865Lc.2594C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000423507p.S166Ic.497G>TSubstitution - Missense
CCDC40ENSG00000141519ENST00000374877p.E346*c.1036G>TSubstitution - Nonsense
CBLN1ENSG00000102924ENST00000219197p.D39Nc.115G>ASubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.G1235Dc.3704G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.D5178Gc.15533A>GSubstitution - Missense
DNAJA3ENSG00000103423ENST00000262375p.E462*c.1384G>TSubstitution - Nonsense
SBF1ENSG00000100241ENST00000390679p.P1017Pc.3051G>CSubstitution - coding silent
ENST00000299377p.I85Ic.255C>TSubstitution - coding silent
ENST00000316490p.R2353Rc.7059G>ASubstitution - coding silent
DBN1ENSG00000113758ENST00000292385p.E280Kc.838G>ASubstitution - Missense
OTOAENSG00000155719ENST00000388958p.F334Fc.1002C>TSubstitution - coding silent
MCTP2ENSG00000140563ENST00000331706p.K239Nc.717G>TSubstitution - Missense
CDK15ENSG00000138395ENST00000410091p.E225Dc.675A>CSubstitution - Missense
CFHR5ENSG00000134389ENST00000256785p.N216Sc.647A>GSubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.Y61Yc.183C>TSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.K521Kc.1563G>ASubstitution - coding silent
NM_133373.2p.N234_L238delc.699_713del15Deletion - In frame
NOX5ENSG00000255346ENST00000260364p.D641Hc.1921G>CSubstitution - Missense
TIFAENSG00000145365ENST00000361717p.S43Sc.129C>TSubstitution - coding silent
SUSD4ENSG00000143502ENST00000344029p.L228Vc.682C>GSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.L1433Lc.4299C>TSubstitution - coding silent
ENST00000412131p.K1136Kc.3408G>ASubstitution - coding silent
GPALPP1ENSG00000133114ENST00000379151p.P106Lc.317C>TSubstitution - Missense
ADPGKENSG00000159322ENST00000311669p.L260Rc.779T>GSubstitution - Missense
OR8B12ENSG00000170953ENST00000306842p.G15Vc.44G>TSubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.G1710Rc.5128G>CSubstitution - Missense
HYOU1ENSG00000149428ENST00000404233p.?c.1666-3C>TUnknown
ATN1ENSG00000111676ENST00000396684p.F989Fc.2967C>TSubstitution - coding silent
MIA2ENSG00000150526ENST00000280082p.D437Hc.1309G>CSubstitution - Missense
SYT11ENSG00000132718ENST00000368324p.K211Kc.633G>ASubstitution - coding silent
DLX6ENSG00000006377ENST00000518156p.E23Qc.67G>CSubstitution - Missense
CYP3A43ENSG00000021461ENST00000222382p.T42Tc.126C>ASubstitution - coding silent
NM_003319p.T22153Ic.66458C>TSubstitution - Missense
NM_052947p.N1383Tc.4148A>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.D5245Gc.15734A>GSubstitution - Missense
TIGD7ENSG00000140993ENST00000396862p.F412Sc.1235T>CSubstitution - Missense
GPR124ENSG00000020181ENST00000412232p.E325Qc.973G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.E5132Kc.15394G>ASubstitution - Missense
VPS54ENSG00000143952ENST00000272322p.D453Hc.1357G>CSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.V2260Vc.6780C>GSubstitution - coding silent
SCGB1C1ENSG00000188076ENST00000342878p.D27Nc.79G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S6929Fc.20786C>TSubstitution - Missense
MAP3K6ENSG00000142733ENST00000374040p.I764Lc.2290A>CSubstitution - Missense
OSR2ENSG00000164920ENST00000457907p.R430Rc.1290G>ASubstitution - coding silent
RPIAENSG00000153574ENST00000283646p.?c.528-7C>AUnknown
GPAA1ENSG00000197858ENST00000355091p.L349Lc.1047C>TSubstitution - coding silent
SHISA7ENSG00000187902ENST00000376325p.L266Ic.796C>ASubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.A1613Pc.4837G>CSubstitution - Missense
IQCA1ENSG00000132321ENST00000409907p.E460Kc.1378G>ASubstitution - Missense
FABP7ENSG00000164434ENST00000356535p.P132Ac.394C>GSubstitution - Missense
KIF1CENSG00000129250ENST00000320785p.S433Fc.1298C>TSubstitution - Missense
ASB10ENSG00000146926ENST00000420175p.D265Nc.793G>ASubstitution - Missense
ASB10ENSG00000146926ENST00000275838p.D265Nc.793G>ASubstitution - Missense
OR1E2ENSG00000127780ENST00000248384p.P58Hc.173C>ASubstitution - Missense
CPNE9ENSG00000144550ENST00000383831p.P351Pc.1053A>GSubstitution - coding silent
SHROOM2ENSG00000146950ENST00000380913p.D1245Hc.3733G>CSubstitution - Missense
NM_005158p.T717Ac.2149A>GSubstitution - Missense
CROCCENSG00000058453ENST00000375541p.S2009Cc.6026C>GSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.L1526Lc.4578T>CSubstitution - coding silent
TRIM24ENSG00000122779ENST00000343526p.S957Sc.2871C>TSubstitution - coding silent
NLRP9ENSG00000185792ENST00000332836p.G425Dc.1274G>ASubstitution - Missense
RANBP3ENSG00000031823ENST00000340578p.E234Qc.700G>CSubstitution - Missense
CGP_EPHA10.1p.L710Mc.2128C>ASubstitution - Missense
SU_MAST3p.R725Qc.2174G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.G1062Rc.3184G>ASubstitution - Missense
LRP4ENSG00000134569ENST00000378623p.R1147Qc.3440G>ASubstitution - Missense
ENST00000319957p.F978Fc.2934C>TSubstitution - coding silent
BEND7ENSG00000165626ENST00000378605p.R274Tc.821G>CSubstitution - Missense
TRPM1ENSG00000134160ENST00000397795p.Y1442Hc.4324T>CSubstitution - Missense
ENST00000416383_v68p.S265Fc.794C>TSubstitution - Missense
CHST8ENSG00000124302ENST00000262622p.F185Fc.555C>TSubstitution - coding silent
ENST00000397697p.S1103Cc.3308C>GSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.P2017Pc.6051C>TSubstitution - coding silent
NM_003319p.V10712Lc.32134G>CSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.E3224Ac.9671A>CSubstitution - Missense
NM_003319p.D5053Gc.15158A>GSubstitution - Missense
ZNF548ENSG00000188785ENST00000336128p.D24Yc.70G>TSubstitution - Missense
MAU2ENSG00000129933ENST00000392313p.S111Rc.331A>CSubstitution - Missense
VCANENSG00000038427ENST00000265077p.V3279Ic.9835G>ASubstitution - Missense
ENST00000354355p.E19Dc.57G>CSubstitution - Missense
SLC25A27ENSG00000153291ENST00000371347p.Q154Ec.460C>GSubstitution - Missense
NLRP9ENSG00000185792ENST00000590200p.G425Dc.1274G>ASubstitution - Missense
FKTNENSG00000106692ENST00000223528p.D225Nc.673G>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.N123Kc.369C>ASubstitution - Missense
ADNP2ENSG00000101544ENST00000262198p.P380Lc.1139C>TSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.D624Hc.1870G>CSubstitution - Missense
SUPT3HENSG00000196284ENST00000371460p.T256Tc.768C>GSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000334218p.K778fs*2c.2330delADeletion - Frameshift
CCDC33ENSG00000140481ENST00000398814p.M297Ic.891G>TSubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.P45Lc.134C>TSubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.E774Ac.2321A>CSubstitution - Missense
ADAM30ENSG00000134249ENST00000369400p.R134Qc.401G>ASubstitution - Missense
ACSM2BENSG00000066813ENST00000329697p.?c.1629+3A>CUnknown
TRPM7ENSG00000092439ENST00000313478p.K153Tc.458A>CSubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.C1276Wc.3828T>GSubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.D663_K667delDRILKc.1986_2000del15Deletion - In frame
ZNF18ENSG00000154957ENST00000322748p.N342Tc.1025A>CSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.K800Rc.2399A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T22278Ic.66833C>TSubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.E568Dc.1704A>TSubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.S128Cc.383C>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.W4444Sc.13331G>CSubstitution - Missense
TMEM18ENSG00000151353ENST00000281017p.M111Ic.333G>ASubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.V17Gc.50T>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.?c.15293+7C>TUnknown
LSM11ENSG00000155858ENST00000286307p.N55Tc.164A>CSubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.K188Kc.564A>GSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.G774*c.2320G>TSubstitution - Nonsense
ENST00000454161p.V652Vc.1956C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.G1062Rc.3184G>ASubstitution - Missense
SYT3ENSG00000213023ENST00000338916p.S474Fc.1421C>TSubstitution - Missense
TEKT4ENSG00000163060ENST00000295201p.C272Sc.814T>ASubstitution - Missense
PLCG1ENSG00000124181ENST00000244007p.S582Cc.1745C>GSubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.R795Gc.2383C>GSubstitution - Missense
HOOK1ENSG00000134709ENST00000371208p.S433Lc.1298C>TSubstitution - Missense
TSPAN4ENSG00000214063ENST00000397397p.I67Mc.201C>GSubstitution - Missense
ZNF202ENSG00000166261ENST00000336139p.F49Fc.147C>TSubstitution - coding silent
OR5AN1ENSG00000176495ENST00000313940p.V34Ec.101T>ASubstitution - Missense
ATP8A2ENSG00000132932ENST00000381655p.D224Hc.670G>CSubstitution - Missense
NM_032738.3p.G352Vc.1055G>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.G868Rc.2602G>CSubstitution - Missense
GALK2ENSG00000156958ENST00000560031p.A197Sc.589G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S6929Fc.20786C>TSubstitution - Missense
TRMT6ENSG00000089195ENST00000203001p.G178*c.532G>TSubstitution - Nonsense
TTNENSG00000155657ENST00000342175p.T22345Ic.67034C>TSubstitution - Missense
SLC34A3ENSG00000198569ENST00000361134p.M403Ic.1209G>CSubstitution - Missense
PANX2ENSG00000073150ENST00000395842p.S147Fc.440C>TSubstitution - Missense
LANCL2ENSG00000132434ENST00000254770p.V185Vc.555T>GSubstitution - coding silent
C7orf60ENSG00000164603ENST00000297145p.T326Kc.977C>ASubstitution - Missense
PPIAENSG00000196262ENST00000468812p.K44Ec.130A>GSubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.E156Kc.466G>ASubstitution - Missense
BEND7ENSG00000165626ENST00000396900p.R313Tc.938G>CSubstitution - Missense
TRIB1ENSG00000173334ENST00000311922p.S340Sc.1020C>TSubstitution - coding silent
LINSENSG00000140471ENST00000561308p.L32Lc.96C>GSubstitution - coding silent
TRAF3IP3ENSG00000009790ENST00000367024p.W15*c.44G>ASubstitution - Nonsense
CDC42BPAENSG00000143776ENST00000366765p.K778Tc.2333A>CSubstitution - Missense
CNOT10ENSG00000182973ENST00000454516p.S467Cc.1400C>GSubstitution - Missense
DNASE1L3ENSG00000163687ENST00000394549p.L19Vc.55C>GSubstitution - Missense
POLHENSG00000170734ENST00000372236p.G153Dc.458G>ASubstitution - Missense
ATRXENSG00000085224ENST00000373344p.K1175Ec.3523A>GSubstitution - Missense
NM_025228.1p.W15*c.44G>ASubstitution - Nonsense
C1orf50ENSG00000164008ENST00000536543p.T131Tc.393A>TSubstitution - coding silent
ATP2B4ENSG00000058668ENST00000367218p.?c.2211+7C>GUnknown
TPI1ENSG00000111669ENST00000229270p.L66Lc.198G>CSubstitution - coding silent
BCAR1ENSG00000050820ENST00000393420p.S425Tc.1274G>CSubstitution - Missense
ENST00000300671p.M2540Kc.7619T>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.S166Ic.497G>TSubstitution - Missense
RPRD1AENSG00000141425ENST00000319040p.Q21Hc.63G>CSubstitution - Missense
ZNF720ENSG00000197302ENST00000399681p.C369Rc.1105T>CSubstitution - Missense
METAP1DENSG00000172878ENST00000315796p.S154Sc.462T>ASubstitution - coding silent
GOT1L1ENSG00000169154ENST00000307599p.I187Sc.560T>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.W4444Sc.13331G>CSubstitution - Missense
UROC1ENSG00000159650ENST00000290868p.F449Fc.1347C>TSubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.R477Sc.1429C>ASubstitution - Missense
AQP8ENSG00000103375ENST00000219660p.M109Ic.327G>CSubstitution - Missense
FCRLAENSG00000132185ENST00000540926p.G358Vc.1073G>TSubstitution - Missense
BCAR1ENSG00000050820ENST00000393422p.S425Tc.1274G>CSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.W4444Sc.13331G>CSubstitution - Missense
TGM3ENSG00000125780ENST00000381458p.R201Cc.601C>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R175Hc.524G>ASubstitution - Missense
SH2D3AENSG00000125731ENST00000245908p.E265Gc.794A>GSubstitution - Missense
BAZ1BENSG00000009954ENST00000339594p.S916*c.2747C>GSubstitution - Nonsense
SLC6A5ENSG00000165970ENST00000525748p.V632Ec.1895T>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366766p.K778Tc.2333A>CSubstitution - Missense
CCDC7ENSG00000216937ENST00000277657p.S454Lc.1361C>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.K697fs*2c.2087delADeletion - Frameshift
ALDH18A1ENSG00000059573ENST00000371224p.K76Nc.228G>CSubstitution - Missense
APBB1ENSG00000166313ENST00000299402p.A552Tc.1654G>ASubstitution - Missense
ADNP2ENSG00000101544ENST00000262198p.R939Ic.2816G>TSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000378105p.S655Fc.1964C>TSubstitution - Missense
AHRRENSG00000063438ENST00000316418p.?c.975-1G>AUnknown
PRDX5ENSG00000126432ENST00000265462p.F157Lc.469T>CSubstitution - Missense
FAM217BENSG00000196227ENST00000358293p.S95Gc.283A>GSubstitution - Missense
PANX2ENSG00000073150ENST00000159647p.S147Fc.440C>TSubstitution - Missense
CA14ENSG00000118298ENST00000369111p.G83Sc.247G>ASubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.A537Gc.1610C>GSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.S2049Sc.6147A>CSubstitution - coding silent
SERPINA1ENSG00000197249ENST00000440909p.E110Dc.330G>CSubstitution - Missense
IPPENSG00000197429ENST00000396478p.R249Cc.745C>TSubstitution - Missense
GPR68ENSG00000119714ENST00000238699p.N18fs*160c.52_71del20Deletion - Frameshift
RRBP1ENSG00000125844ENST00000377813p.E393Kc.1177G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.P1282Pc.3846A>CSubstitution - coding silent
DSG3ENSG00000134757ENST00000257189p.S603Nc.1808G>ASubstitution - Missense
GMDSENSG00000112699ENST00000380815p.F218Yc.653T>ASubstitution - Missense
CCSER1ENSG00000184305ENST00000432775p.E107Kc.319G>ASubstitution - Missense
SETD6ENSG00000103037ENST00000310682p.R161Hc.482G>ASubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.L542Lc.1626C>GSubstitution - coding silent
PCDHGB1ENSG00000254221ENST00000523390p.S539Sc.1617C>TSubstitution - coding silent
ASIC2ENSG00000108684ENST00000225823p.P414Ac.1240C>GSubstitution - Missense
ADARENSG00000160710ENST00000292205p.E849Vc.2546A>TSubstitution - Missense
FKTNENSG00000106692ENST00000374705p.D202Ec.606T>ASubstitution - Missense
OTOFENSG00000115155ENST00000339598p.I1202Tc.3605T>CSubstitution - Missense
TRIM24ENSG00000122779ENST00000415680p.S923Sc.2769C>TSubstitution - coding silent
MASP1ENSG00000127241ENST00000337774p.Q595Qc.1785A>GSubstitution - coding silent
C1QBENSG00000173369ENST00000314933p.A123Tc.367G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.P395Pc.1185C>TSubstitution - coding silent
TECTAENSG00000109927ENST00000392793p.Y523*c.1569C>ASubstitution - Nonsense
ATP8A2ENSG00000132932ENST00000381655p.D224Vc.671A>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.G868Rc.2602G>CSubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.S542Lc.1625C>TSubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.D663_K667delDRILKc.1986_2000del15Deletion - In frame
CCDC18ENSG00000122483ENST00000334652p.E882Ec.2646G>ASubstitution - coding silent
BARHL2ENSG00000143032ENST00000370445p.L269Lc.807C>GSubstitution - coding silent
ALPK2ENSG00000198796ENST00000361673p.N2022Tc.6065A>CSubstitution - Missense
OSTCENSG00000198856ENST00000361564p.L147Lc.441G>ASubstitution - coding silent
NDST4ENSG00000138653ENST00000264363p.S795Pc.2383T>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.D3795Yc.11383G>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.D3795Yc.11383G>TSubstitution - Missense
MLPHENSG00000115648ENST00000264605p.?c.1618-32_1654del69Unknown
C8orf76ENSG00000189376ENST00000276704p.L342fs*15c.1024_1025insGTAGCCCInsertion - Frameshift
MED22ENSG00000148297ENST00000343730p.L82Lc.246C>GSubstitution - coding silent
C6orf223ENSG00000181577ENST00000336600p.V60Vc.180T>ASubstitution - coding silent
TRIOENSG00000038382ENST00000344135p.R375Cc.1123C>TSubstitution - Missense
ENST00000367531p.Y209Sc.626A>CSubstitution - Missense
NFASCENSG00000163531ENST00000367171p.T912Sc.2735C>GSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.G1062Rc.3184G>ASubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.S1219Cc.3656C>GSubstitution - Missense
CEP85LENSG00000111860ENST00000368491p.S450Fc.1349C>TSubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.P927Sc.2779C>TSubstitution - Missense
DBN1ENSG00000113758ENST00000309007p.?c.832-1G>TUnknown
ABCA3ENSG00000167972ENST00000301732p.E801Dc.2403G>CSubstitution - Missense
AGERENSG00000204305ENST00000375076p.L388Mc.1162C>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.R1466Hc.4397G>ASubstitution - Missense
FMNL3ENSG00000161791ENST00000335154p.V816Vc.2448G>ASubstitution - coding silent
TMPOENSG00000120802ENST00000556029p.F302Fc.906C>TSubstitution - coding silent
AMER2ENSG00000165566ENST00000515384p.G552Gc.1656G>ASubstitution - coding silent
ATRNL1ENSG00000107518ENST00000355044p.G531Ec.1592G>ASubstitution - Missense
SPO11ENSG00000054796ENST00000371263p.M296fs*3c.885_886delTADeletion - Frameshift
ZNF726ENSG00000213967ENST00000334589p.A45Ac.135G>ASubstitution - coding silent
SULT1B1ENSG00000173597ENST00000310613p.G65Vc.194G>TSubstitution - Missense
MMP2ENSG00000087245ENST00000219070p.V350Vc.1050C>GSubstitution - coding silent
SLCO1B7ENSG00000205754ENST00000421593p.I538Mc.1614T>GSubstitution - Missense
GLRX3ENSG00000108010ENST00000331244p.V307Lc.919G>TSubstitution - Missense
TXNRD1ENSG00000198431ENST00000525566p.?c.218_243+20del46Unknown
OLR1ENSG00000173391ENST00000309539p.Q236Ec.706C>GSubstitution - Missense
AMER2ENSG00000165566ENST00000357816p.G433Gc.1299G>ASubstitution - coding silent
MICU1ENSG00000107745ENST00000361114p.?c.1181-8T>GUnknown
ELF5ENSG00000135374ENST00000312319p.N221Kc.663T>GSubstitution - Missense
SERPINA7ENSG00000123561ENST00000327674p.E24Kc.70G>ASubstitution - Missense
JMJD6ENSG00000070495ENST00000397625p.R65Tc.194G>CSubstitution - Missense
ADAMDEC1ENSG00000134028ENST00000256412p.E70Ac.209A>CSubstitution - Missense
RLN1ENSG00000107018ENST00000223862p.V116Vc.348A>GSubstitution - coding silent
ENST00000273600p.P2017Pc.6051C>TSubstitution - coding silent
ENST00000201961_v71p.R75Tc.224G>CSubstitution - Missense
ACOXLENSG00000153093ENST00000439055p.G305Ec.914G>ASubstitution - Missense
SEMA5BENSG00000082684ENST00000451055p.I277Mc.831C>GSubstitution - Missense
ENST00000380437p.C169Cc.507T>CSubstitution - coding silent
MDGA1ENSG00000112139ENST00000434837p.K319Kc.957G>ASubstitution - coding silent
SHC3ENSG00000148082ENST00000375835p.?c.835+8G>AUnknown
PRSS35ENSG00000146250ENST00000369700p.E85Ec.255G>ASubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.R477Sc.1429C>ASubstitution - Missense
EN2ENSG00000164778ENST00000297375p.Q264Rc.791A>GSubstitution - Missense
TTBK1ENSG00000146216ENST00000259750p.E952Vc.2855A>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.P2922Pc.8766G>ASubstitution - coding silent
WIPF1ENSG00000115935ENST00000409891p.G233Sc.697G>ASubstitution - Missense
DHX32ENSG00000089876ENST00000284690p.P209Rc.626C>GSubstitution - Missense
PXDC1ENSG00000168994ENST00000380283p.E203Qc.607G>CSubstitution - Missense
ZBTB3ENSG00000185670ENST00000394807p.S455Fc.1364C>TSubstitution - Missense
TMTC3ENSG00000139324ENST00000266712p.E64*c.190G>TSubstitution - Nonsense
MAP7D1ENSG00000116871ENST00000373151p.E764Ec.2292G>ASubstitution - coding silent
ABL2ENSG00000143322ENST00000512653p.A580Sc.1738G>TSubstitution - Missense
ATP12AENSG00000075673ENST00000381946p.T194Tc.582C>GSubstitution - coding silent
THEMIS2ENSG00000130775ENST00000373921p.V394Lc.1180G>CSubstitution - Missense
ENST00000262211p.A92Vc.275C>TSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.D2313Hc.6937G>CSubstitution - Missense
MC4RENSG00000166603ENST00000299766p.M204Lc.610A>CSubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.G827Ac.2480G>CSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.T2111Ic.6332C>TSubstitution - Missense
ENST00000309900p.R32Rc.96G>ASubstitution - coding silent
XM_375550.2p.H886Dc.2656C>GSubstitution - Missense
NSUN2ENSG00000037474ENST00000264670p.V501Mc.1501G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.D2653Hc.7957G>CSubstitution - Missense
WDR48ENSG00000114742ENST00000302313p.L585Lc.1755C>GSubstitution - coding silent
DAW1ENSG00000123977ENST00000309931p.T129Mc.386C>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000334218p.K778Tc.2333A>CSubstitution - Missense
SUSD4ENSG00000143502ENST00000343846p.L228Vc.682C>GSubstitution - Missense
SLC39A13ENSG00000165915ENST00000354884p.G62Vc.185G>TSubstitution - Missense
COL16A1ENSG00000084636ENST00000373672p.E1184Kc.3550G>ASubstitution - Missense
TIPRLENSG00000143155ENST00000367833p.E34Vc.101A>TSubstitution - Missense
SLC5A12ENSG00000148942ENST00000396005p.G422Ac.1265G>CSubstitution - Missense
TRHDEENSG00000072657ENST00000261180p.I721Ic.2163C>TSubstitution - coding silent
PIK3C2BENSG00000133056ENST00000367187p.S106Sc.318T>CSubstitution - coding silent
ENST00000356127p.G7413Ac.22238G>CSubstitution - Missense
RGP1ENSG00000107185ENST00000456972p.T179Ic.536C>TSubstitution - Missense
LAMA3ENSG00000053747ENST00000269217p.F719Fc.2157C>TSubstitution - coding silent
ENST00000356127p.E29970Kc.89908G>ASubstitution - Missense
GRIN2CENSG00000161509ENST00000293190p.S846Sc.2538G>ASubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.H220Rc.659A>GSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.Q585Ec.1753C>GSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.I985Vc.2953A>GSubstitution - Missense
ENST00000288841p.L623Pc.1868T>CSubstitution - Missense
PCDHA2ENSG00000204969ENST00000378132p.S245*c.734C>GSubstitution - Nonsense
CTTNBP2ENSG00000077063ENST00000160373p.Q1384Qc.4152G>ASubstitution - coding silent
ENST00000262946p.R9Gc.25C>GSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.M2531Kc.7592T>ASubstitution - Missense
DYNC1LI2ENSG00000135720ENST00000258198p.T329Tc.987C>TSubstitution - coding silent
ASB10ENSG00000146926ENST00000422024p.D310Nc.928G>ASubstitution - Missense
CRATENSG00000095321ENST00000318080p.Y209Cc.626A>GSubstitution - Missense
ANKEF1ENSG00000132623ENST00000378392p.K694Nc.2082G>CSubstitution - Missense
KRTAP21-1ENSG00000187005ENST00000335093p.G15Sc.43G>ASubstitution - Missense
AGRNENSG00000188157ENST00000379370p.E1608Qc.4822G>CSubstitution - Missense
CLCA2ENSG00000137975ENST00000370565p.G754Ec.2261G>ASubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.A607fs*27c.1820_1826delCAGTTAGDeletion - Frameshift
PODXLENSG00000128567ENST00000537928p.Q462*c.1384C>TSubstitution - Nonsense
CACNA1BENSG00000148408ENST00000371372p.?c.390+2T>CUnknown
LRRC16BENSG00000186648ENST00000342740p.E1248Kc.3742G>ASubstitution - Missense
TRPV4ENSG00000111199ENST00000261740p.L752Lc.2256G>TSubstitution - coding silent
CR1ENSG00000203710ENST00000367049p.L1362Fc.4084C>TSubstitution - Missense
HHIPL2ENSG00000143512ENST00000343410p.N513Hc.1537A>CSubstitution - Missense
OR6T1ENSG00000181499ENST00000321252p.Q58Ec.172C>GSubstitution - Missense
CIDEBENSG00000136305ENST00000258807p.?c.603_660del58Unknown
ATG16L2ENSG00000168010ENST00000321297p.L225Lc.675G>CSubstitution - coding silent
MAP10ENSG00000212916ENST00000418460p.P220Lc.659C>TSubstitution - Missense
MAP7D1ENSG00000116871ENST00000373151p.E765Kc.2293G>ASubstitution - Missense
PDE3BENSG00000152270ENST00000282096p.D774_K790>Ec.2321_2368del48Complex - deletion inframe
C10orf71ENSG00000177354ENST00000323868p.?c.2075-7_2075-6ins10Unknown
ENST00000238638p.M125Ic.375G>ASubstitution - Missense
ABL2ENSG00000143322ENST00000502732p.A595Sc.1783G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E29972Kc.89914G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.V17209Lc.51625G>CSubstitution - Missense
GLB1ENSG00000170266ENST00000445488p.S294Rc.882C>ASubstitution - Missense
GLB1ENSG00000170266ENST00000307363p.S246Rc.738C>ASubstitution - Missense
ENTPD8ENSG00000188833ENST00000371506p.G331Sc.991G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.Q3300Qc.9900G>ASubstitution - coding silent
COL22A1ENSG00000169436ENST00000303045p.G696Wc.2086G>TSubstitution - Missense
EDRF1ENSG00000107938ENST00000368813p.I96Ic.288C>ASubstitution - coding silent
OR8K5ENSG00000181752ENST00000313447p.S93Sc.279C>TSubstitution - coding silent
ST6GAL2ENSG00000144057ENST00000409087p.S436Cc.1307C>GSubstitution - Missense
ENST00000378024_v70p.D5742Dc.17226C>TSubstitution - coding silent
TXNDC15ENSG00000113621ENST00000358387p.S248Pc.742T>CSubstitution - Missense
NUFIP2ENSG00000108256ENST00000225388p.R645Tc.1934G>CSubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.E612Qc.1834G>CSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.E1593*c.4777G>TSubstitution - Nonsense
PCLOENSG00000186472ENST00000423517p.D3795Yc.11383G>TSubstitution - Missense
TBC1D21ENSG00000167139ENST00000300504p.?c.978+10C>TUnknown
EDRF1ENSG00000107938ENST00000356792p.E385Kc.1153G>ASubstitution - Missense
SLCO1B1ENSG00000134538ENST00000256958p.K316Kc.948A>GSubstitution - coding silent
ANO1ENSG00000131620ENST00000355303p.P45Lc.134C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.Y178fs*6c.532_533delTADeletion - Frameshift
TC2NENSG00000165929ENST00000360594p.K407Nc.1221A>TSubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.Q89Kc.265C>ASubstitution - Missense
ALS2CR12ENSG00000155749ENST00000286190p.?c.623-1G>CUnknown
ENST00000356127p.D11550Gc.34649A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.?c.15293+7C>TUnknown
SH2B2ENSG00000160999ENST00000536178p.H456Rc.1367A>GSubstitution - Missense
RSAD2ENSG00000134321ENST00000382040p.I120Ic.360C>TSubstitution - coding silent
ENST00000539307p.R96Rc.286C>ASubstitution - coding silent
PLCG1ENSG00000124181ENST00000244007p.?c.1096+8G>CUnknown
ZBTB17ENSG00000116809ENST00000375733p.?c.1697+3C>AUnknown
WDR48ENSG00000114742ENST00000418020p.L27Lc.81C>GSubstitution - coding silent
FMODENSG00000122176ENST00000354955p.H185Dc.553C>GSubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.A944Gc.2831C>GSubstitution - Missense
ANKHD1ENSG00000131503ENST00000360839p.?c.4940+5A>GUnknown
NOVA1ENSG00000139910ENST00000539517p.T182Rc.545C>GSubstitution - Missense
OR6C65ENSG00000205328ENST00000379665p.N40Nc.120C>TSubstitution - coding silent
MICALCLENSG00000133808ENST00000256186p.E674fs*19c.2020delGDeletion - Frameshift
SLC4A8ENSG00000050438ENST00000358657p.F1005Fc.3015C>TSubstitution - coding silent
DISC1ENSG00000162946ENST00000366636p.F404Lc.1210T>CSubstitution - Missense
C12orf56ENSG00000185306ENST00000333722p.F361Lc.1081T>CSubstitution - Missense
KIAA0196ENSG00000164961ENST00000318410p.Y1135Cc.3404A>GSubstitution - Missense
TRIB1ENSG00000173334ENST00000311922p.S340Fc.1019C>TSubstitution - Missense
TRIB1ENSG00000173334ENST00000311922p.S340Fc.1019C>TSubstitution - Missense
TRIB1ENSG00000173334ENST00000311922p.S340Sc.1020C>TSubstitution - coding silent
EIF2B5ENSG00000145191ENST00000273783p.Q398Hc.1194G>CSubstitution - Missense
CLCN2ENSG00000114859ENST00000265593p.G203Gc.609C>TSubstitution - coding silent
WDR17ENSG00000150627ENST00000280190p.V189Ic.565G>ASubstitution - Missense
DBN1ENSG00000113758ENST00000292385p.?c.838-1G>TUnknown
TNXBENSG00000168477ENST00000375247p.Q3365Qc.10095G>ASubstitution - coding silent
SUPT3HENSG00000196284ENST00000371459p.T245Tc.735C>GSubstitution - coding silent
CAPN11ENSG00000137225ENST00000398776p.?c.1870-3_1870-1CAG>ATUnknown
GPR110ENSG00000153292ENST00000371253p.G895Rc.2683G>ASubstitution - Missense
SLC39A13ENSG00000165915ENST00000362021p.G62Vc.185G>TSubstitution - Missense
HYOU1ENSG00000149428ENST00000543287p.?c.1405-3C>TUnknown
OR9Q2ENSG00000186513ENST00000311591p.V9Vc.27G>ASubstitution - coding silent
ANO1ENSG00000131620ENST00000316296p.P17Lc.50C>TSubstitution - Missense
ATP12AENSG00000075673ENST00000218548p.T194Tc.582C>GSubstitution - coding silent
CDK11BENSG00000248333ENST00000317673p.?c.313-5C>AUnknown
POU2F1ENSG00000143190ENST00000420254p.L228Lc.684A>GSubstitution - coding silent
NFASCENSG00000163531ENST00000367172p.T927Sc.2780C>GSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.E3600Qc.10798G>CSubstitution - Missense
STX12ENSG00000117758ENST00000440806p.P88Rc.263C>GSubstitution - Missense
OTOAENSG00000155719ENST00000286149p.F348Fc.1044C>TSubstitution - coding silent
CCDC40ENSG00000141519ENST00000269318p.E346*c.1036G>TSubstitution - Nonsense
EPS15L1ENSG00000127527ENST00000455140p.T861Tc.2583C>TSubstitution - coding silent
SHC2ENSG00000129946ENST00000264554p.H525Dc.1573C>GSubstitution - Missense
ENST00000317292p.L88Lc.264C>ASubstitution - coding silent
WIPF1ENSG00000115935ENST00000272746p.G233Sc.697G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.?c.6187-6C>TUnknown
TMEM18ENSG00000151353ENST00000355654p.M98Ic.294G>ASubstitution - Missense
TRPC1ENSG00000144935ENST00000476941p.M352Ic.1056G>TSubstitution - Missense
CCDC66ENSG00000180376ENST00000436465p.E671Qc.2011G>CSubstitution - Missense
OR51L1ENSG00000176798ENST00000321543p.?c.943_948delTTTTAAUnknown
CDC42BPAENSG00000143776ENST00000366765p.K778fs*2c.2330delADeletion - Frameshift
ENST00000378024_v70p.K1517Tc.4550A>CSubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.A554Tc.1660G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.I328_D329delIDc.978_983delAGATATDeletion - In frame
MICAL1ENSG00000135596ENST00000368952p.L328Mc.982C>ASubstitution - Missense
CEP85LENSG00000111860ENST00000419517p.S450Fc.1349C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.E5132Kc.15394G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.E4896Kc.14686G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.?c.15080+7C>TUnknown
AGERENSG00000204305ENST00000375067p.T336Nc.1007C>ASubstitution - Missense
SLC25A27ENSG00000153291ENST00000411689p.Q154Ec.460C>GSubstitution - Missense
ENST00000425120p.Q84Ec.250C>GSubstitution - Missense
C6orf223ENSG00000181577ENST00000439969p.F75Ic.223T>ASubstitution - Missense
PTBP3ENSG00000119314ENST00000458258p.K55Ec.163A>GSubstitution - Missense
FKTNENSG00000106692ENST00000374705p.D202Nc.604G>ASubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.I1645Fc.4933A>TSubstitution - Missense
DDX3XENSG00000215301ENST00000399959p.R294Tc.881G>CSubstitution - Missense
DGKGENSG00000058866ENST00000265022p.E706Kc.2116G>ASubstitution - Missense
NM_013257p.A25Vc.74C>TSubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.S1306Lc.3917C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.D2581Hc.7741G>CSubstitution - Missense
ENST00000264412p.W145Lc.434G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
ABL2ENSG00000143322ENST00000502732p.T753Ac.2257A>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R175Hc.524G>ASubstitution - Missense
DISC1ENSG00000162946ENST00000366633p.F404Lc.1210T>CSubstitution - Missense
OR4F5ENSG00000186092ENST00000335137p.R283Rc.849G>ASubstitution - coding silent
MAP3K6ENSG00000142733ENST00000493901p.I772Lc.2314A>CSubstitution - Missense
DLGAP5ENSG00000126787ENST00000247191p.S202Lc.605C>TSubstitution - Missense
ENST00000381532_v70p.F1067Fc.3201C>TSubstitution - coding silent
ZNF141ENSG00000131127ENST00000240499p.H389Yc.1165C>TSubstitution - Missense
MDGA1ENSG00000112139ENST00000297153p.K319Kc.957G>ASubstitution - coding silent
RPL7L1ENSG00000146223ENST00000493763p.P76Rc.227C>GSubstitution - Missense
SH2B2ENSG00000160999ENST00000306803p.H418Rc.1253A>GSubstitution - Missense
ENTPD8ENSG00000188833ENST00000344119p.G331Sc.991G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.I349_D350delIDc.1041_1046delAGATATDeletion - In frame
TAF1ENSG00000147133ENST00000373790p.I328_D329delIDc.978_983delAGATATDeletion - In frame
ATP7AENSG00000165240ENST00000341514p.D870Hc.2608G>CSubstitution - Missense
NM_000052.2p.D870Hc.2608G>CSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.K1175Ec.3523A>GSubstitution - Missense
STX4ENSG00000103496ENST00000313843p.?c.232+7G>TUnknown
CD200R1LENSG00000206531ENST00000398214p.V207Vc.621G>CSubstitution - coding silent
TRPC1ENSG00000144935ENST00000273482p.M318Ic.954G>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.S46Cc.137C>GSubstitution - Missense
DCHS2ENSG00000197410ENST00000443500p.S46Cc.137C>GSubstitution - Missense
SLC34A2ENSG00000157765ENST00000382051p.V659Vc.1977C>GSubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.A368Tc.1102G>ASubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.A368Tc.1102G>ASubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.Q220fs*21c.657delADeletion - Frameshift
ENST00000349653p.P186Lc.557C>TSubstitution - Missense
TFAP2AENSG00000137203ENST00000379604p.E432Ec.1296G>ASubstitution - coding silent
TFAP2AENSG00000137203ENST00000319516p.E428Ec.1284G>ASubstitution - coding silent
TFAP2AENSG00000137203ENST00000379608p.E426Ec.1278G>ASubstitution - coding silent
GCM2ENSG00000124827ENST00000379491p.C106Cc.318C>TSubstitution - coding silent
KHDC3LENSG00000203908ENST00000370367p.L73fs*3c.217_252>GCGAComplex - frameshift
ZHX1ENSG00000165156ENST00000395571p.E325Vc.974A>TSubstitution - Missense
C8orf76ENSG00000189376ENST00000276704p.E333Dc.999G>TSubstitution - Missense
CEP85LENSG00000111860ENST00000368488p.S453Fc.1358C>TSubstitution - Missense
DSPENSG00000096696ENST00000379802p.L2732Lc.8196C>TSubstitution - coding silent
MSH6ENSG00000116062ENST00000234420p.D1255Nc.3763G>ASubstitution - Missense
SIX2ENSG00000170577ENST00000303077p.I278Ic.834C>TSubstitution - coding silent
FSHRENSG00000170820ENST00000406846p.E76Kc.226G>ASubstitution - Missense
PLCD3ENSG00000161714ENST00000322765p.N234_L238delNNDRLc.699_713del15Deletion - In frame
PCDHGB1ENSG00000254221ENST00000523390p.S539Sc.1617C>TSubstitution - coding silent
CSF1RENSG00000182578ENST00000286301p.Y61Yc.183C>TSubstitution - coding silent
MED22ENSG00000148297ENST00000344469p.L82Lc.246C>GSubstitution - coding silent
LGALS4ENSG00000171747ENST00000307751p.R240Cc.718C>TSubstitution - Missense
POU6F2ENSG00000106536ENST00000403058p.Q203Hc.609G>CSubstitution - Missense
PCDHA2ENSG00000204969ENST00000526136p.S245*c.734C>GSubstitution - Nonsense
ANKHD1ENSG00000131503ENST00000297183p.?c.4940+5A>GUnknown
SLC6A7ENSG00000011083ENST00000230671p.L462Lc.1386G>CSubstitution - coding silent
OR2J2ENSG00000204700ENST00000377167p.T164Ic.491C>TSubstitution - Missense
SLC26A4ENSG00000091137ENST00000265715p.?c.304+2T>AUnknown
EZH2ENSG00000106462ENST00000320356p.P215Sc.643C>TSubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.P176Sc.526C>TSubstitution - Missense
ASB10ENSG00000146926ENST00000377867p.D250Nc.748G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.L1568Pc.4703T>CSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.L1568Pc.4703T>CSubstitution - Missense
TRAF7ENSG00000131653ENST00000326181p.?c.1387-10C>TUnknown
OTOAENSG00000155719ENST00000388957p.F10Fc.30C>TSubstitution - coding silent
AQP8ENSG00000103375ENST00000219660p.M109Ic.327G>CSubstitution - Missense
MRI1ENSG00000037757ENST00000040663p.R138Tc.413G>CSubstitution - Missense
IL27RAENSG00000104998ENST00000263379p.A428Vc.1283C>TSubstitution - Missense
HAUS8ENSG00000131351ENST00000253669p.K304Nc.912G>CSubstitution - Missense
SLC35E1ENSG00000127526ENST00000409648p.E26Qc.76G>CSubstitution - Missense
TPM4ENSG00000167460ENST00000344824p.E240Qc.718G>CSubstitution - Missense
SMOXENSG00000088826ENST00000278795p.Q287Kc.859C>ASubstitution - Missense
PIGTENSG00000124155ENST00000279036p.T403Tc.1209C>TSubstitution - coding silent
PIGTENSG00000124155ENST00000279036p.T403Tc.1209C>TSubstitution - coding silent
WISP2ENSG00000064205ENST00000372865p.V211Vc.633C>GSubstitution - coding silent
ITGB6ENSG00000115221ENST00000283249p.I729Fc.2185A>TSubstitution - Missense
UBE3CENSG00000009335ENST00000348165p.?c.1331+9C>TUnknown
DPP6ENSG00000130226ENST00000406326p.R294Kc.881G>ASubstitution - Missense
KLHL41ENSG00000239474ENST00000284669p.E178Ac.533A>CSubstitution - Missense
KCNQ3ENSG00000184156ENST00000388996p.D451Hc.1351G>CSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.G1235Dc.3704G>ASubstitution - Missense
SLC14A2ENSG00000132874ENST00000255226p.P776Ac.2326C>GSubstitution - Missense
ENST00000309305p.P141Ac.421C>GSubstitution - Missense
KIR3DL1ENSG00000167633ENST00000391728p.E258Ec.774G>ASubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000402254p.E258Ec.774G>ASubstitution - coding silent
C20orf112ENSG00000197183ENST00000201961p.R91Tc.272G>CSubstitution - Missense
C20orf112ENSG00000197183ENST00000375678p.R34Tc.101G>CSubstitution - Missense
VPS16ENSG00000215305ENST00000380445p.L619Fc.1855C>TSubstitution - Missense
SLC25A12ENSG00000115840ENST00000422440p.F77Cc.230T>GSubstitution - Missense
GAD1ENSG00000128683ENST00000358196p.D447Vc.1340A>TSubstitution - Missense
AGPSENSG00000018510ENST00000264167p.?c.1608-2A>TUnknown
WIPF1ENSG00000115935ENST00000392546p.G233Sc.697G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.T28650Ic.85949C>TSubstitution - Missense
ENST00000356127p.T28648Ic.85943C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.E23600Kc.70798G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E23667Kc.70999G>ASubstitution - Missense
NM_003319p.E23475Kc.70423G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.V10837Lc.32509G>CSubstitution - Missense
ENST00000356127p.V17207Lc.51619G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.V10904Lc.32710G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.D11550Gc.34649A>GSubstitution - Missense
AOX1ENSG00000138356ENST00000374700p.G589Ac.1766G>CSubstitution - Missense
CDK15ENSG00000138395ENST00000374598p.E276Dc.828A>CSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.H1297Qc.3891C>GSubstitution - Missense
HAO1ENSG00000101323ENST00000378789p.R295Pc.884G>CSubstitution - Missense
ENST00000358393p.P7Tc.19C>ASubstitution - Missense
ENST00000344886p.Y234Yc.702T>CSubstitution - coding silent
CPNE9ENSG00000144550ENST00000383832p.P351Pc.1053A>GSubstitution - coding silent
CENPEENSG00000138778ENST00000265148p.R1429Tc.4286G>CSubstitution - Missense
HADHENSG00000138796ENST00000403312p.?c.133-7G>AUnknown
HADHENSG00000138796ENST00000309522p.?c.133-7G>AUnknown
CCSER1ENSG00000184305ENST00000509176p.E107Kc.319G>ASubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.E107Kc.319G>ASubstitution - Missense
GOT1L1ENSG00000169154ENST00000307599p.I187Sc.560T>GSubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376441p.R624Rc.1870C>ASubstitution - coding silent
GRIPAP1ENSG00000068400ENST00000376423p.R545Rc.1633C>ASubstitution - coding silent
IL1R2ENSG00000115590ENST00000393414p.T143Ic.428C>TSubstitution - Missense
ACOXLENSG00000153093ENST00000389811p.G305Ec.914G>ASubstitution - Missense
ST6GAL2ENSG00000144057ENST00000361686p.S436Cc.1307C>GSubstitution - Missense
CNOT10ENSG00000182973ENST00000328834p.S407Cc.1220C>GSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.A607fs*27c.1820_1826delCAGTTAGDeletion - Frameshift
FHOD1ENSG00000135723ENST00000258201p.L82fs*9c.245_273del29Deletion - Frameshift
DYSFENSG00000135636ENST00000410020p.L1367Vc.4099C>GSubstitution - Missense
SEC24DENSG00000150961ENST00000280551p.Q746Qc.2238G>ASubstitution - coding silent
PCDH10ENSG00000138650ENST00000264360p.?c.2797+5G>TUnknown
SYNE1ENSG00000131018ENST00000423061p.?c.15080+7C>TUnknown
ABCB4ENSG00000005471ENST00000359206p.N704Kc.2112T>GSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.D2581Hc.7741G>CSubstitution - Missense
ENST00000378682p.R129Hc.386G>ASubstitution - Missense
DMDENSG00000198947ENST00000357033p.R1470Hc.4409G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.R1466Hc.4397G>ASubstitution - Missense
ASIC4ENSG00000072182ENST00000358078p.P106Tc.316C>ASubstitution - Missense
SU_SPEGp.Y1258Cc.3773A>GSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.?c.6199-6C>TUnknown
ENST00000373702p.?c.1726-6C>TUnknown
MOGAT1ENSG00000124003ENST00000446656p.W146Lc.437G>TSubstitution - Missense
IQCA1ENSG00000132321ENST00000409907p.E460Kc.1378G>ASubstitution - Missense
PSME4ENSG00000068878ENST00000404125p.H1084Dc.3250C>GSubstitution - Missense
SEMA5BENSG00000082684ENST00000195173p.I223Mc.669C>GSubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.F509Fc.1527C>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000380817p.P1017Pc.3051G>CSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.?c.4011+7T>AUnknown
MAP1BENSG00000131711ENST00000296755p.K1477Tc.4430A>CSubstitution - Missense
MTRRENSG00000124275ENST00000264668p.E402Qc.1204G>CSubstitution - Missense
FBXO6ENSG00000116663ENST00000376753p.L53Lc.159C>GSubstitution - coding silent
DVL1ENSG00000107404ENST00000378891p.S610Lc.1829C>TSubstitution - Missense
ANXA9ENSG00000143412ENST00000368947p.?c.852+3G>AUnknown
POU2F1ENSG00000143190ENST00000367866p.L251Lc.753A>GSubstitution - coding silent
POU2F1ENSG00000143190ENST00000367862p.L240Lc.720A>GSubstitution - coding silent
TRIM69ENSG00000185880ENST00000329464p.K389fs*16c.1166_1184>TCComplex - frameshift
IPPENSG00000197429ENST00000359942p.R249Cc.745C>TSubstitution - Missense
LINSENSG00000140471ENST00000314742p.L32Lc.96C>GSubstitution - coding silent
PTGER2ENSG00000125384ENST00000245457p.S232Rc.696C>GSubstitution - Missense
AMN1ENSG00000151743ENST00000281471p.H118Nc.352C>ASubstitution - Missense
EFNA3ENSG00000143590ENST00000368408p.?c.581_586+31del37Unknown
ATP2B4ENSG00000058668ENST00000357681p.?c.2211+7C>GUnknown
MTNR1BENSG00000134640ENST00000257068p.W264Cc.792G>TSubstitution - Missense
PRAMEF11ENSG00000204513ENST00000535591p.E10Kc.28G>ASubstitution - Missense
TRIM58ENSG00000162722ENST00000366481p.V400Lc.1198G>TSubstitution - Missense
WDR78ENSG00000152763ENST00000371026p.G626Rc.1876G>CSubstitution - Missense
TC2NENSG00000165929ENST00000340892p.K471Nc.1413A>TSubstitution - Missense
SERPINA9ENSG00000170054ENST00000337425p.T390Nc.1169C>ASubstitution - Missense
ADPRHL1ENSG00000153531ENST00000375418p.H220Nc.658C>ASubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.P865Sc.2593C>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.P865Sc.2593C>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.P865Lc.2594C>TSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.L2199Ic.6595C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.L1079Ic.3235C>ASubstitution - Missense
BCAR1ENSG00000050820ENST00000418647p.S453Tc.1358G>CSubstitution - Missense
ENST00000331986p.S2562Fc.7685C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T2483Sc.7447A>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T2483Sc.7447A>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A3175fs*111c.9524_9540del17Deletion - Frameshift
TTNENSG00000155657ENST00000342992p.G7413Ac.22238G>CSubstitution - Missense
NXT1ENSG00000132661ENST00000254998p.F6Lc.18C>GSubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.P1292Pc.3876A>CSubstitution - coding silent
PTH2RENSG00000144407ENST00000272847p.G235Wc.703G>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.L1058Lc.3174A>TSubstitution - coding silent
FRMPD3ENSG00000147234ENST00000276185p.S1149Ic.3446G>TSubstitution - Missense
JMJD6ENSG00000070495ENST00000445478p.R65Tc.194G>CSubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.L1472Lc.4414T>CSubstitution - coding silent
GPIENSG00000105220ENST00000356487p.D530Hc.1588G>CSubstitution - Missense
C19orf48ENSG00000167747ENST00000391812p.*118Sc.353G>CNonstop extension
PTPRZ1ENSG00000106278ENST00000393386p.N1457Sc.4370A>GSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.N1457Sc.4370A>GSubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.S1103Cc.3308C>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.S166Ic.497G>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000378539p.S166Ic.497G>TSubstitution - Missense
RGP1ENSG00000107185ENST00000378078p.T139Ic.416C>TSubstitution - Missense
ENST00000399933_v61p.V1154Vc.3462C>GSubstitution - coding silent
KIAA2026ENSG00000183354ENST00000399933p.V329Vc.987C>GSubstitution - coding silent
CCDC66ENSG00000180376ENST00000394672p.E671Qc.2011G>CSubstitution - Missense
SORBS3ENSG00000120896ENST00000240123p.R336Pc.1007G>CSubstitution - Missense
C9orf156ENSG00000136932ENST00000375119p.V266Mc.796G>ASubstitution - Missense
OSR2ENSG00000164920ENST00000297565p.R309Rc.927G>ASubstitution - coding silent
CACNG5ENSG00000075429ENST00000169565p.L245Ic.733C>ASubstitution - Missense
CCDC40ENSG00000141519ENST00000397545p.E346*c.1036G>TSubstitution - Nonsense
CCDC40ENSG00000141519ENST00000397545p.E792Dc.2376G>CSubstitution - Missense
CCDC40ENSG00000141519ENST00000374877p.E792Dc.2376G>CSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.F2328Fc.6984C>TSubstitution - coding silent
ZNF490ENSG00000188033ENST00000311437p.S376Fc.1127C>TSubstitution - Missense
ODAMENSG00000109205ENST00000396094p.I194Lc.580A>CSubstitution - Missense
NSUN7ENSG00000179299ENST00000381782p.Y676Cc.2027A>GSubstitution - Missense
ZNF721ENSG00000182903ENST00000338977p.K570Rc.1709A>GSubstitution - Missense
SLAIN2ENSG00000109171ENST00000264313p.R533Gc.1597A>GSubstitution - Missense
GMDSENSG00000112699ENST00000380815p.F218Lc.654C>ASubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.V662_F664delVIFc.1985_1993delTGATCTTTGDeletion - In frame
DLX6ENSG00000006377ENST00000007660p.E23Qc.67G>CSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.L912Fc.2734C>TSubstitution - Missense
KRT76ENSG00000185069ENST00000332411p.L440Lc.1320C>GSubstitution - coding silent
CENPFENSG00000117724ENST00000366955p.S1554Sc.4662C>TSubstitution - coding silent
CCDC33ENSG00000140481ENST00000321288p.M500Ic.1500G>TSubstitution - Missense
GPALPP1ENSG00000133114ENST00000379151p.P106Sc.316C>TSubstitution - Missense
TRPV4ENSG00000111199ENST00000261740p.I795fs*9c.2384_2385insGInsertion - Frameshift
RASSF4ENSG00000107551ENST00000340258p.E128*c.382G>TSubstitution - Nonsense
CDC42BPAENSG00000143776ENST00000366766p.K778fs*2c.2330delADeletion - Frameshift
CDC42BPAENSG00000143776ENST00000366769p.K778Tc.2333A>CSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.K697Tc.2090A>CSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366769p.K778fs*2c.2330delADeletion - Frameshift
ZSWIM8ENSG00000214655ENST00000398706p.K1141Kc.3423G>ASubstitution - coding silent
MRPL24ENSG00000143314ENST00000368211p.R83Qc.248G>ASubstitution - Missense
IQGAP3ENSG00000183856ENST00000361170p.G743Rc.2227G>CSubstitution - Missense
OR6Y1ENSG00000197532ENST00000302617p.M202Ic.606G>ASubstitution - Missense
CDK11BENSG00000248333ENST00000407249p.P98Tc.292C>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000374644p.N123Kc.369C>ASubstitution - Missense
MAP10ENSG00000212916ENST00000418460p.P220Lc.659C>TSubstitution - Missense
ENST00000366638p.F436Lc.1306T>CSubstitution - Missense
SLC4A8ENSG00000050438ENST00000453097p.F978Fc.2934C>TSubstitution - coding silent
EDRF1ENSG00000107938ENST00000356792p.P324Ac.970C>GSubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.P290Ac.868C>GSubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.E351Kc.1051G>ASubstitution - Missense
EDRF1ENSG00000107938ENST00000356792p.I676Ic.2028C>ASubstitution - coding silent
EDRF1ENSG00000107938ENST00000337623p.I642Ic.1926C>ASubstitution - coding silent
GLRX3ENSG00000108010ENST00000368644p.V307Lc.919G>TSubstitution - Missense
TOX4ENSG00000092203ENST00000262709p.?c.76-9C>TUnknown
RNASE3ENSG00000169397ENST00000304639p.R144Rc.432G>CSubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.K1517Tc.4550A>CSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.D5742Dc.17226C>TSubstitution - coding silent
NADSYN1ENSG00000172890ENST00000319023p.?c.1694+10C>GUnknown
WNK1ENSG00000060237ENST00000537687p.Q2059Ec.6175C>GSubstitution - Missense
ADRB1ENSG00000043591ENST00000369295p.V112Vc.336G>CSubstitution - coding silent
HEPHL1ENSG00000181333ENST00000315765p.P879Sc.2635C>TSubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.S1502Lc.4505C>TSubstitution - Missense
NM_005056.1p.S1507Lc.4520C>TSubstitution - Missense
COL2A1ENSG00000139219ENST00000380518p.G342fs*278c.1025_1052del28Deletion - Frameshift
BRCA2ENSG00000139618ENST00000544455p.E1593*c.4777G>TSubstitution - Nonsense
SLAMF7ENSG00000026751ENST00000368043p.K251Kc.753G>ASubstitution - coding silent
CCDC19ENSG00000213085ENST00000368099p.K202Kc.606G>ASubstitution - coding silent
ITLN1ENSG00000179914ENST00000326245p.G269Rc.805G>ASubstitution - Missense
ZBTB17ENSG00000116809ENST00000375743p.?c.1697+3C>AUnknown
IGSF22ENSG00000179057ENST00000513874p.I1037Ic.3111C>ASubstitution - coding silent
NM_005158p.A559Sc.1675G>TSubstitution - Missense
TPI1ENSG00000111669ENST00000396705p.L29Lc.87G>CSubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.Y178fs*6c.532_533delTADeletion - Frameshift
DCDC1ENSG00000170959ENST00000342355p.Q96Qc.288A>GSubstitution - coding silent
ADORA3ENSG00000121933ENST00000369716p.V161Vc.483C>GSubstitution - coding silent
ADORA3ENSG00000121933ENST00000369717p.V80Vc.240C>GSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.S600*c.1799C>ASubstitution - Nonsense
CFHR5ENSG00000134389ENST00000367414p.N240Sc.719A>GSubstitution - Missense
SYT17ENSG00000103528ENST00000355377p.I422Ic.1266C>TSubstitution - coding silent
ERI2ENSG00000196678ENST00000300005p.?c.733-4C>TUnknown
C14orf166BENSG00000100565ENST00000393774p.?c.1104+10C>GUnknown
YLPM1ENSG00000119596ENST00000325680p.S2001Fc.6002C>TSubstitution - Missense
YLPM1ENSG00000119596ENST00000238571p.S1766Fc.5297C>TSubstitution - Missense
MCTP2ENSG00000140563ENST00000357742p.K651Nc.1953G>TSubstitution - Missense
ENST00000426033p.V643Vc.1929C>TSubstitution - coding silent
SLC22A10ENSG00000184999ENST00000332793p.E69Kc.205G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.E4102Qc.12304G>CSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.E3600Qc.10798G>CSubstitution - Missense
CGP_EPHA10.1p.A997Pc.2989G>CSubstitution - Missense
CCDC30ENSG00000186409ENST00000340612p.S14Pc.40T>CSubstitution - Missense
ZSWIM5ENSG00000162415ENST00000359600p.L396Fc.1186C>TSubstitution - Missense
CLPTM1LENSG00000049656ENST00000320895p.K313Nc.939G>TSubstitution - Missense
DBN1ENSG00000113758ENST00000309007p.E278Kc.832G>ASubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.G1274Rc.3820G>CSubstitution - Missense
GFRALENSG00000187871ENST00000340465p.D195Hc.583G>CSubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.K1019Nc.3057G>CSubstitution - Missense
UBE2IENSG00000103275ENST00000355803p.?c.334-1G>CUnknown
ZCCHC14ENSG00000140948ENST00000268616p.L290Vc.868C>GSubstitution - Missense
JUPENSG00000173801ENST00000393930p.K40_Y53del14c.119_160del42Deletion - In frame
RPRD1AENSG00000141425ENST00000357384p.Q21Hc.63G>CSubstitution - Missense
SMOXENSG00000088826ENST00000379460p.Q340Kc.1018C>ASubstitution - Missense
CRYAAENSG00000160202ENST00000291554p.D105Hc.313G>CSubstitution - Missense
LGALS2ENSG00000100079ENST00000215886p.E132Qc.394G>CSubstitution - Missense
GGA1ENSG00000100083ENST00000343632p.P484Ac.1450C>GSubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.T1875Ic.5624C>TSubstitution - Missense
FKTNENSG00000106692ENST00000223528p.D225Ec.675T>ASubstitution - Missense
UQCC1ENSG00000101019ENST00000374385p.W44Sc.131G>CSubstitution - Missense
XDHENSG00000158125ENST00000379416p.R791Gc.2371C>GSubstitution - Missense
LDHBENSG00000111716ENST00000396076p.?c.129+1G>TUnknown
BSPRYENSG00000119411ENST00000374183p.A287Tc.859G>ASubstitution - Missense
LOXL2ENSG00000134013ENST00000389131p.Q48_A54delc.142_162del21Deletion - In frame
MUC16ENSG00000181143ENST00000397910p.A3175fs*111c.9524_9540del17Deletion - Frameshift
MAP7D1ENSG00000116871ENST00000373151p.A367Tc.1099G>ASubstitution - Missense
NFASCENSG00000163531ENST00000360049p.T923Sc.2768C>GSubstitution - Missense
APBB1ENSG00000166313ENST00000299402p.E162Kc.484G>ASubstitution - Missense
OR9Q2ENSG00000186513ENST00000311591p.Y73Fc.218A>TSubstitution - Missense
OR8D2ENSG00000197263ENST00000357438p.S75Fc.224C>TSubstitution - Missense
SPATS2ENSG00000123352ENST00000321898p.R533Hc.1598G>ASubstitution - Missense
TMEM62ENSG00000137842ENST00000260403p.W284Cc.852G>CSubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.R43Kc.128G>ASubstitution - Missense
GALK2ENSG00000156958ENST00000327171p.A186Sc.556G>TSubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.E2265Kc.6793G>ASubstitution - Missense
SOX15ENSG00000129194ENST00000250055p.Q194Ec.580C>GSubstitution - Missense
ATP8B4ENSG00000104043ENST00000284509p.D30Dc.90T>CSubstitution - coding silent
LPOENSG00000167419ENST00000262290p.F176Fc.528C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.R1469Rc.4407G>ASubstitution - coding silent
ATP2C2ENSG00000064270ENST00000262429p.V879Vc.2637C>TSubstitution - coding silent
WBSCR28ENSG00000175877ENST00000320531p.L182Lc.546G>CSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.F1357Fc.4071C>TSubstitution - coding silent
OR2M4ENSG00000171180ENST00000306687p.I34Ic.102C>TSubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.H1573Pc.4718A>CSubstitution - Missense
CCDC66ENSG00000180376ENST00000394672p.E554Qc.1660G>CSubstitution - Missense
TGENSG00000042832ENST00000220616p.P1755Rc.5264C>GSubstitution - Missense
EXOSC3ENSG00000107371ENST00000327304p.K124Nc.372A>TSubstitution - Missense
PHF19ENSG00000119403ENST00000373896p.P499Lc.1496C>TSubstitution - Missense
ENST00000393689p.R4Sc.10C>ASubstitution - Missense
PODXLENSG00000128567ENST00000378555p.Q494*c.1480C>TSubstitution - Nonsense
PDCD11ENSG00000148843ENST00000369797p.?c.4441-3C>TUnknown
EP400ENSG00000183495ENST00000389561p.P2886Pc.8658G>ASubstitution - coding silent
LRRC16BENSG00000186648ENST00000342740p.K726Kc.2178G>ASubstitution - coding silent
ENST00000414315p.R43Hc.128G>ASubstitution - Missense
ENST00000545858p.R82Hc.245G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E5203Kc.15607G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E5203Kc.15607G>ASubstitution - Missense
ELOVL2ENSG00000197977ENST00000354666p.F232Fc.696C>TSubstitution - coding silent
SCN10AENSG00000185313ENST00000449082p.T1570Mc.4709C>TSubstitution - Missense
ABL2ENSG00000143322ENST00000512653p.T738Ac.2212A>GSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.R59Rc.175C>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.R59Rc.175C>ASubstitution - coding silent
CCDC60ENSG00000183273ENST00000327554p.R349Kc.1046G>ASubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.?c.3878-6G>CUnknown
FRMD1ENSG00000153303ENST00000283309p.G129Ec.386G>ASubstitution - Missense
IKBKEENSG00000143466ENST00000367120p.L70Lc.210C>GSubstitution - coding silent
CR1ENSG00000203710ENST00000367049p.S2429Cc.7286C>GSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.S1979Cc.5936C>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
NM_018979p.Q1799Ec.5395C>GSubstitution - Missense
TESK1ENSG00000107140ENST00000336395p.H539Yc.1615C>TSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.K910Mc.2729A>TSubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.Y209Sc.626A>CSubstitution - Missense
PTPN12ENSG00000127947ENST00000248594p.H230Yc.688C>TSubstitution - Missense
NM_020137p.R267Rc.799C>ASubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.R2876Cc.8626C>TSubstitution - Missense
ENST00000265148.1p.R1429Tc.4286G>CSubstitution - Missense
NM_014614.1p.H970Dc.2908C>GSubstitution - Missense
SMARCAL1ENSG00000138375ENST00000357276p.L432Vc.1294C>GSubstitution - Missense
USP29ENSG00000131864ENST00000254181p.L454Lc.1362C>GSubstitution - coding silent
NM_175736.3p.V816Vc.2448G>ASubstitution - coding silent
MED14ENSG00000180182ENST00000324817p.F1325Lc.3975C>ASubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.M1192Ic.3576G>TSubstitution - Missense
XM_042978.4p.S1198Ic.3593G>TSubstitution - Missense
FIGFENSG00000165197ENST00000297904p.E177Kc.529G>ASubstitution - Missense
NM_147171.1p.D2325Hc.6973G>CSubstitution - Missense
DNAJA3ENSG00000103423ENST00000262375p.E462*c.1384G>TSubstitution - Nonsense
ACO2ENSG00000100412ENST00000216254p.E510Qc.1528G>CSubstitution - Missense
ITGA9ENSG00000144668ENST00000264741p.E1025*c.3073G>TSubstitution - Nonsense
BCAR1ENSG00000050820ENST00000162330p.S407Tc.1220G>CSubstitution - Missense
DUSP12ENSG00000081721ENST00000367943p.L201Lc.603C>GSubstitution - coding silent
SURF1ENSG00000148290ENST00000371974p.N89Kc.267C>GSubstitution - Missense
HSPA4ENSG00000170606ENST00000304858p.L751Pc.2252T>CSubstitution - Missense
MICAL1ENSG00000135596ENST00000358807p.L309Mc.925C>ASubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.G756Ac.2267G>CSubstitution - Missense
ZNF277ENSG00000198839ENST00000361822p.L445Fc.1335G>CSubstitution - Missense
NSMCE2ENSG00000156831ENST00000287437p.L27Fc.81G>CSubstitution - Missense
BEND7ENSG00000165626ENST00000341083p.R261Tc.782G>CSubstitution - Missense
ZNF25ENSG00000175395ENST00000302609p.E21Kc.61G>ASubstitution - Missense
ENST00000251757p.S613*c.1838C>GSubstitution - Nonsense
PRDM4ENSG00000110851ENST00000228437p.?c.1276+1G>AUnknown
NAA25ENSG00000111300ENST00000261745p.S789Rc.2367T>GSubstitution - Missense
SIX4ENSG00000100625ENST00000216513p.E23Qc.67G>CSubstitution - Missense
GRIN2CENSG00000161509ENST00000293190p.S846Sc.2538G>ASubstitution - coding silent
C1orf64ENSG00000183888ENST00000329454p.G100Wc.298G>TSubstitution - Missense
STX12ENSG00000117758ENST00000373943p.P88Rc.263C>GSubstitution - Missense
SCP2ENSG00000116171ENST00000371514p.A155Dc.464C>ASubstitution - Missense
ADARENSG00000160710ENST00000368474p.E806Vc.2417A>TSubstitution - Missense
GNPATENSG00000116906ENST00000366647p.E538*c.1612G>TSubstitution - Nonsense
DYSFENSG00000135636ENST00000258104p.L1349Vc.4045C>GSubstitution - Missense
RNF149ENSG00000163162ENST00000295317p.E7Kc.19G>ASubstitution - Missense
ATF2ENSG00000115966ENST00000264110p.D352Hc.1054G>CSubstitution - Missense
XIRP1ENSG00000168334ENST00000340369p.L444Hc.1331T>ASubstitution - Missense
SEMA5BENSG00000082684ENST00000357599p.I223Mc.669C>GSubstitution - Missense
MCF2L2ENSG00000053524ENST00000328913p.L1039Fc.3115C>TSubstitution - Missense
OSTCENSG00000198856ENST00000361564p.F9Lc.27C>GSubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.R887Tc.2660G>CSubstitution - Missense


COSMIC

335 mutations reported
70 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
ANKHD1ENSG00000131503ENST00000360839p.?c.4940+5A>GUnknown
TRIM24ENSG00000122779ENST00000415680p.S923Sc.2769C>TSubstitution - coding silent15908952
TRIM24ENSG00000122779ENST00000415680p.S923Sc.2769C>TSubstitution - coding silent15908952
TRIM24ENSG00000122779ENST00000415680p.S923Sc.2769C>TSubstitution - coding silent
EPHA8ENSG00000070886ENST00000166244p.N123Kc.369C>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.N123Kc.369C>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.N123Kc.369C>ASubstitution - Missense15908952
EPHA8ENSG00000070886ENST00000166244p.N123Kc.369C>ASubstitution - Missense15908952
LOXL2ENSG00000134013ENST00000389131p.Q48_A54delQAPANVAc.142_162del21Deletion - In frame
TRIM36ENSG00000152503ENST00000282369p.A607fs*27c.1820_1826delCAGTTAGDeletion - Frameshift
XM_498386.1p.G226Gc.678C>TSubstitution - coding silent
TRIM24ENSG00000122779ENST00000343526p.S957Sc.2871C>TSubstitution - coding silent
PTPN13ENSG00000163629ENST00000436978p.L1526Lc.4578T>CSubstitution - coding silent
CGP_EPHA10.1p.L710Mc.2128C>ASubstitution - Missense15908952
CGP_EPHA10.1p.L710Mc.2128C>ASubstitution - Missense15908952
CDC42BPAENSG00000143776ENST00000366767p.K697fs*2c.2090_2091AG>CComplex - frameshift
SURF1ENSG00000148290ENST00000371974p.N89Kc.267C>GSubstitution - Missense
NM_020137p.R267Rc.799C>ASubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366767p.K697fs*2c.2090_2091AG>CComplex - frameshift15908952
CDC42BPAENSG00000143776ENST00000366767p.K697fs*2c.2090_2091AG>CComplex - frameshift15908952
RGL1ENSG00000143344ENST00000304685p.Y209Sc.626A>CSubstitution - Missense
NM_020137p.R267Rc.799C>ASubstitution - coding silent
ENST00000265148.1p.R1429Tc.4286G>CSubstitution - Missense
ENST00000265148.1p.R1429Tc.4286G>CSubstitution - Missense
FARP1ENSG00000152767ENST00000319562p.R714Lc.2141G>TSubstitution - Missense
PTPN12ENSG00000127947ENST00000248594p.H230Yc.688C>TSubstitution - Missense
SERPINB1ENSG00000021355ENST00000380739p.L13Lc.39G>ASubstitution - coding silent
NM_014614.1p.H970Dc.2908C>GSubstitution - Missense
NM_014614.1p.H970Dc.2908C>GSubstitution - Missense
ACO2ENSG00000100412ENST00000216254p.E510Qc.1528G>CSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.K910Mc.2729A>TSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.K910Mc.2729A>TSubstitution - Missense
TESK1ENSG00000107140ENST00000336395p.H539Yc.1615C>TSubstitution - Missense15908952
TESK1ENSG00000107140ENST00000336395p.H539Yc.1615C>TSubstitution - Missense15908952
PPP2R5CENSG00000078304ENST00000334743p.F55Fc.165T>CSubstitution - coding silent
CASC5ENSG00000137812ENST00000346991p.P865>Lc.2593_2594CC>TTComplex - compound substitution
ITGA9ENSG00000144668ENST00000264741p.E1025*c.3073G>TSubstitution - Nonsense
USP29ENSG00000131864ENST00000254181p.L454Lc.1362C>GSubstitution - coding silent
TAF1ENSG00000147133ENST00000373790p.I328_K330>Kc.983_988delTAGATAComplex - deletion inframe
TAF1ENSG00000147133ENST00000373790p.I328_K330>Kc.983_988delTAGATAComplex - deletion inframe15908952
TAF1ENSG00000147133ENST00000373790p.I328_K330>Kc.983_988delTAGATAComplex - deletion inframe15908952
AKAP6ENSG00000151320ENST00000280979p.M1192Ic.3576G>TSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.M1192Ic.3576G>TSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.G188Sc.562G>ASubstitution - Missense
TRIOENSG00000038382ENST00000344204p.R2876Cc.8626C>TSubstitution - Missense15908952
TRIOENSG00000038382ENST00000344204p.R2876Cc.8626C>TSubstitution - Missense15908952
TRIOENSG00000038382ENST00000344204p.R2876Cc.8626C>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.R2876Cc.8626C>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.R2876Cc.8626C>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.R2876Cc.8626C>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.R2876Cc.8626C>TSubstitution - Missense
NM_175736.3p.V816Vc.2448G>ASubstitution - coding silent
CSF1RENSG00000182578ENST00000286301p.Y61Yc.183C>TSubstitution - coding silent15908952
CSF1RENSG00000182578ENST00000286301p.Y61Yc.183C>TSubstitution - coding silent15908952
CSF1RENSG00000182578ENST00000286301p.Y61Yc.183C>TSubstitution - coding silent
CSF1RENSG00000182578ENST00000286301p.Y61Yc.183C>TSubstitution - coding silent
SERPINB1ENSG00000021355ENST00000380739p.?c.736-1G>CUnknown
BRCA2ENSG00000139618ENST00000380152p.E1593*c.4777G>TSubstitution - Nonsense
BRCA2ENSG00000139618ENST00000380152p.E1593*c.4777G>TSubstitution - Nonsense
PDGFRBENSG00000113721ENST00000261799p.T882Ic.2645C>TSubstitution - Missense15908952
PDGFRBENSG00000113721ENST00000261799p.T882Ic.2645C>TSubstitution - Missense15908952
DUSP12ENSG00000081721ENST00000367943p.L201Lc.603C>GSubstitution - coding silent
POLHENSG00000170734ENST00000372236p.G153Dc.458G>ASubstitution - Missense
POLHENSG00000170734ENST00000372236p.G153Dc.458G>ASubstitution - Missense
AHRRENSG00000063438ENST00000316418p.?c.975-1G>AUnknown
NM_001184p.Y1956Yc.5868C>TSubstitution - coding silent
NM_001184p.Y1956Yc.5868C>TSubstitution - coding silent
NM_001184p.Y1956Yc.5868C>TSubstitution - coding silent15908952
NM_001184p.Y1956Yc.5868C>TSubstitution - coding silent15908952
DHX32ENSG00000089876ENST00000284690p.P209Rc.626C>GSubstitution - Missense
AGERENSG00000204305ENST00000375076p.L388Mc.1162C>ASubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.S125Lc.374C>TSubstitution - Missense15908952
FGFR1ENSG00000077782ENST00000447712p.S125Lc.374C>TSubstitution - Missense15908952
LDHBENSG00000111716ENST00000396076p.?c.129+1G>TUnknown
PLCG1ENSG00000124181ENST00000244007p.S582Cc.1745C>GSubstitution - Missense
PLCG1ENSG00000124181ENST00000244007p.S582Cc.1745C>GSubstitution - Missense
PLCG1ENSG00000124181ENST00000244007p.S582Cc.1745C>GSubstitution - Missense
SH2D3AENSG00000125731ENST00000245908p.E265Gc.794A>GSubstitution - Missense
NOVA1ENSG00000139910ENST00000539517p.T182Rc.545C>GSubstitution - Missense
DAW1ENSG00000123977ENST00000309931p.T129Mc.386C>TSubstitution - Missense16959974
RFX2ENSG00000087903ENST00000303657p.A37Gc.110C>GSubstitution - Missense16959974
DNAH9ENSG00000007174ENST00000262442p.D2653Hc.7957G>CSubstitution - Missense16959974
FAM217BENSG00000196227ENST00000358293p.S95Gc.283A>GSubstitution - Missense16959974
PANX2ENSG00000073150ENST00000159647p.S147Fc.440C>TSubstitution - Missense16959974
PRDX5ENSG00000126432ENST00000265462p.F157Lc.469T>CSubstitution - Missense16959974
NEFMENSG00000104722ENST00000221166p.?c.1-98_12del110Unknown16959974
TPM4ENSG00000167460ENST00000300933p.E204Qc.610G>CSubstitution - Missense16959974
DHX32ENSG00000089876ENST00000284690p.P209Rc.626C>GSubstitution - Missense16959974
PXDC1ENSG00000168994ENST00000380283p.E203Qc.607G>CSubstitution - Missense16959974
ZBTB3ENSG00000185670ENST00000394807p.S455Fc.1364C>TSubstitution - Missense16959974
CEP85LENSG00000111860ENST00000368491p.S450Fc.1349C>TSubstitution - Missense16959974
DBN1ENSG00000113758ENST00000309007p.?c.832-1G>TUnknown16959974
FNDC3BENSG00000075420ENST00000336824p.P927Sc.2779C>TSubstitution - Missense16959974
ABCA3ENSG00000167972ENST00000301732p.E801Dc.2403G>CSubstitution - Missense16959974
WFDC1ENSG00000103175ENST00000219454p.V138Mc.412G>ASubstitution - Missense16959974
SYT3ENSG00000213023ENST00000338916p.S474Fc.1421C>TSubstitution - Missense16959974
HOOK1ENSG00000134709ENST00000371208p.S433Lc.1298C>TSubstitution - Missense16959974
TEKT4ENSG00000163060ENST00000295201p.C272Sc.814T>ASubstitution - Missense16959974
TSPAN4ENSG00000214063ENST00000397397p.I67Mc.201C>GSubstitution - Missense16959974
SH2D3AENSG00000125731ENST00000245908p.E265Gc.794A>GSubstitution - Missense16959974
BAZ1BENSG00000009954ENST00000339594p.S916*c.2747C>GSubstitution - Nonsense16959974
SLC6A5ENSG00000165970ENST00000525748p.V632Ec.1895T>ASubstitution - Missense16959974
GOLGB1ENSG00000173230ENST00000340645p.A944Gc.2831C>GSubstitution - Missense16959974
ENST00000262946p.?c.50+3G>AUnknown16959974
NHSENSG00000188158ENST00000380060p.A844Tc.2530G>ASubstitution - Missense16959974
MED14ENSG00000180182ENST00000324817p.F1325Lc.3975C>ASubstitution - Missense16959974
ATRXENSG00000085224ENST00000373344p.K1175Ec.3523A>GSubstitution - Missense
HSPA4ENSG00000170606ENST00000304858p.L751Pc.2252T>CSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.K1175Ec.3523A>GSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.K1175Ec.3523A>GSubstitution - Missense
SU_SgK085p.S389Sc.1167T>GSubstitution - coding silent15908952
SU_SgK085p.S389Sc.1167T>GSubstitution - coding silent15908952
SMARCAL1ENSG00000138375ENST00000357276p.L432Vc.1294C>GSubstitution - Missense
SMARCAL1ENSG00000138375ENST00000357276p.L432Vc.1294C>GSubstitution - Missense
GRIN2CENSG00000161509ENST00000293190p.S846Sc.2538G>ASubstitution - coding silent
DNAJA3ENSG00000103423ENST00000262375p.E462*c.1384G>TSubstitution - Nonsense
DDX3XENSG00000215301ENST00000399959p.R294Tc.881G>CSubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.I1645Fc.4933A>TSubstitution - Missense
DGKGENSG00000058866ENST00000265022p.E706Kc.2116G>ASubstitution - Missense
DDX3XENSG00000215301ENST00000399959p.R294Tc.881G>CSubstitution - Missense
NM_018979p.Q1799Ec.5395C>GSubstitution - Missense15908952
NM_018979p.Q1799Ec.5395C>GSubstitution - Missense15908952
FIGFENSG00000165197ENST00000297904p.E177Kc.529G>ASubstitution - Missense
NM_147171.1p.D2325Hc.6973G>CSubstitution - Missense
NM_133373.2p.N234_E239>Ec.699_713del15Complex - deletion inframe
XM_042978.4p.S1198Ic.3593G>TSubstitution - Missense
CDK15ENSG00000138395ENST00000410091p.E225Dc.675A>CSubstitution - Missense15908952
CDK15ENSG00000138395ENST00000410091p.E225Dc.675A>CSubstitution - Missense15908952
MAOAENSG00000189221ENST00000338702p.D15Ec.45C>ASubstitution - Missense
CCNT1ENSG00000129315ENST00000261900p.I698Mc.2094C>GSubstitution - Missense
STAT1ENSG00000115415ENST00000361099p.P491Ac.1471C>GSubstitution - Missense
MAKENSG00000111837ENST00000313243p.R272Pc.815G>CSubstitution - Missense
MAKENSG00000111837ENST00000313243p.R272Pc.815G>CSubstitution - Missense
MAKENSG00000111837ENST00000313243p.R272Pc.815G>CSubstitution - Missense15908952
MAKENSG00000111837ENST00000313243p.R272Pc.815G>CSubstitution - Missense15908952
BCAR1ENSG00000050820ENST00000162330p.S407Tc.1220G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
MED14ENSG00000180182ENST00000324817p.F1325Lc.3975C>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
MED14ENSG00000180182ENST00000324817p.F1325Lc.3975C>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.K697fs*2c.2090_2091AG>CComplex - frameshift
AMFRENSG00000159461ENST00000290649p.?c.1599+4A>GUnknown16959974
OTCENSG00000036473ENST00000039007p.Q270Rc.809A>GSubstitution - Missense16959974
SCP2ENSG00000116171ENST00000371514p.A155Dc.464C>ASubstitution - Missense16959974
BEND7ENSG00000165626ENST00000341083p.R261Tc.782G>CSubstitution - Missense16959974
EXOC3L1ENSG00000179044ENST00000314586p.Y75Nc.223T>ASubstitution - Missense16959974
GJB1ENSG00000169562ENST00000374029p.W133*c.398G>ASubstitution - Nonsense16959974
TAF1ENSG00000147133ENST00000373790p.I328_K330>Kc.983_988delTAGATAComplex - deletion inframe16959974
PRDM4ENSG00000110851ENST00000228437p.?c.1276+1G>AUnknown16959974
ENST00000251757p.S613*c.1838C>GSubstitution - Nonsense16959974
AKAP6ENSG00000151320ENST00000280979p.M1192Ic.3576G>TSubstitution - Missense16959974
RPRD1AENSG00000141425ENST00000357384p.Q21Hc.63G>CSubstitution - Missense16959974
ITGA9ENSG00000144668ENST00000264741p.E1025*c.3073G>TSubstitution - Nonsense16959974
ENPEPENSG00000138792ENST00000265162p.R887Tc.2660G>CSubstitution - Missense16959974
LGALS2ENSG00000100079ENST00000215886p.E132Qc.394G>CSubstitution - Missense16959974
BRCA2ENSG00000139618ENST00000380152p.E1593*c.4777G>TSubstitution - Nonsense16959974
ZCCHC14ENSG00000140948ENST00000268616p.L290Vc.868C>GSubstitution - Missense16959974
GNPATENSG00000116906ENST00000366647p.E538*c.1612G>TSubstitution - Nonsense16959974
TXNDC15ENSG00000113621ENST00000358387p.S248Pc.742T>CSubstitution - Missense16959974
DNAJA3ENSG00000103423ENST00000262375p.E462*c.1384G>TSubstitution - Nonsense16959974
SLC8A3ENSG00000100678ENST00000381269p.E612Qc.1834G>CSubstitution - Missense16959974
XDHENSG00000158125ENST00000379416p.R791Gc.2371C>GSubstitution - Missense16959974
ATP2A3ENSG00000074370ENST00000359983p.R674Hc.2021G>ASubstitution - Missense16959974
MFSD9ENSG00000135953ENST00000258436p.V84Ac.251T>CSubstitution - Missense16959974
DDX3XENSG00000215301ENST00000399959p.R294Tc.881G>CSubstitution - Missense16959974
DGKGENSG00000058866ENST00000265022p.E706Kc.2116G>ASubstitution - Missense16959974
NM_013257p.A25Vc.74C>TSubstitution - Missense16959974
MYH1ENSG00000109061ENST00000226207p.S1306Lc.3917C>TSubstitution - Missense16959974
CLPTM1LENSG00000049656ENST00000320895p.K313Nc.939G>TSubstitution - Missense16959974
COL19A1ENSG00000082293ENST00000322773p.K1019Nc.3057G>CSubstitution - Missense16959974
ZNF277ENSG00000198839ENST00000361822p.L445Fc.1335G>CSubstitution - Missense16959974
NM_018979p.Q1799Ec.5395C>GSubstitution - Missense16959974
ADARENSG00000160710ENST00000368474p.E806Vc.2417A>TSubstitution - Missense16959974
ZNF318ENSG00000171467ENST00000361428p.G1274Rc.3820G>CSubstitution - Missense16959974
OSTCENSG00000198856ENST00000361564p.F9Lc.27C>GSubstitution - Missense16959974
LDHBENSG00000111716ENST00000396076p.?c.129+1G>TUnknown16959974
NAA25ENSG00000111300ENST00000261745p.S789Rc.2367T>GSubstitution - Missense16959974
GFRALENSG00000187871ENST00000340465p.D195Hc.583G>CSubstitution - Missense16959974
MAOAENSG00000189221ENST00000338702p.D15Ec.45C>ASubstitution - Missense16959974
STAT1ENSG00000115415ENST00000361099p.P491Ac.1471C>GSubstitution - Missense16959974
PLD2ENSG00000129219ENST00000263088p.D663_K667delDRILKc.1988_2002del15Deletion - In frame16959974
SPO11ENSG00000054796ENST00000371263p.M296fs*3c.886_887delATDeletion - Frameshift16959974
ARID1BENSG00000049618ENST00000275248p.G756Ac.2267G>CSubstitution - Missense16959974
SMOXENSG00000088826ENST00000379460p.Q340Kc.1018C>ASubstitution - Missense16959974
C1QBENSG00000173369ENST00000314933p.A123Tc.367G>ASubstitution - Missense16959974
FKTNENSG00000106692ENST00000223528p.D225Nc.673G>ASubstitution - Missense16959974
KRTAP21-1ENSG00000187005ENST00000335093p.G15Sc.43G>ASubstitution - Missense16959974
CLCA2ENSG00000137975ENST00000370565p.G754Ec.2261G>ASubstitution - Missense16959974
SHCBP1ENSG00000171241ENST00000303383p.?c.1213+3G>AUnknown16959974
TRIM36ENSG00000152503ENST00000282369p.A607fs*27c.1820_1826delCAGTTAGDeletion - Frameshift16959974
ANKEF1ENSG00000132623ENST00000378392p.K694Nc.2082G>CSubstitution - Missense16959974
C2orf44ENSG00000163026ENST00000295148p.P454Sc.1360C>TSubstitution - Missense16959974
NLRP9ENSG00000185792ENST00000332836p.G425Dc.1274G>ASubstitution - Missense16959974
SHROOM2ENSG00000146950ENST00000380913p.D1245Hc.3733G>CSubstitution - Missense16959974
FAM131AENSG00000175182ENST00000310585p.S260Nc.779G>ASubstitution - Missense16959974
STARD8ENSG00000130052ENST00000252336p.G188Sc.562G>ASubstitution - Missense16959974
DBN1ENSG00000113758ENST00000309007p.E278Kc.832G>ASubstitution - Missense16959974
HOXA4ENSG00000197576ENST00000360046p.G37Dc.110G>ASubstitution - Missense16959974
ENST00000377143p.F250Lc.750C>GSubstitution - Missense16959974
CXCR5ENSG00000160683ENST00000292174p.E34Kc.100G>ASubstitution - Missense16959974
MMP15ENSG00000102996ENST00000219271p.D596Gc.1787A>GSubstitution - Missense16959974
MIA2ENSG00000150526ENST00000280082p.D437Hc.1309G>CSubstitution - Missense16959974
CFHR5ENSG00000134389ENST00000256785p.N216Sc.647A>GSubstitution - Missense16959974
SERPINB1ENSG00000021355ENST00000380739p.?c.736-1G>CUnknown16959974
BAG6ENSG00000204463ENST00000375976p.?c.3381+3C>GUnknown16959974
TGM3ENSG00000125780ENST00000381458p.R201Cc.601C>TSubstitution - Missense17932254
LYSTENSG00000143669ENST00000389793p.?c.5923-4_5923delTCAGGUnknown17932254
CCDC136ENSG00000128596ENST00000297788p.S1219Cc.3656C>GSubstitution - Missense17932254
ITPR1ENSG00000150995ENST00000456211p.S1008Ic.3023G>TSubstitution - Missense17932254
APBB1ENSG00000166313ENST00000299402p.A552Tc.1654G>ASubstitution - Missense17932254
XPO5ENSG00000124571ENST00000265351p.S241Nc.722G>ASubstitution - Missense17932254
ENST00000295136p.S16Tc.47G>CSubstitution - Missense17932254
ADNP2ENSG00000101544ENST00000262198p.R939Ic.2816G>TSubstitution - Missense17932254
AHRRENSG00000063438ENST00000316418p.?c.975-1G>AUnknown17932254
PCDHGA1ENSG00000204956ENST00000378105p.S655Fc.1964C>TSubstitution - Missense17932254
C6orf222ENSG00000189325ENST00000437635p.A68Ac.204T>CSubstitution - coding silent17932254
LURAP1ENSG00000171357ENST00000371980p.E204Ec.612G>ASubstitution - coding silent17932254
WDR48ENSG00000114742ENST00000302313p.L585Lc.1755C>GSubstitution - coding silent17932254
NOX5ENSG00000255346ENST00000260364p.D641Hc.1921G>CSubstitution - Missense17932254
NM_005158p.T717Ac.2149A>GSubstitution - Missense17932254
CROCCENSG00000058453ENST00000375541p.S2009Cc.6026C>GSubstitution - Missense17932254
RANBP3ENSG00000031823ENST00000340578p.E234Qc.700G>CSubstitution - Missense17932254
LYSTENSG00000143669ENST00000389793p.?c.5923-26_5923del27Unknown17932254
SPO11ENSG00000054796ENST00000371263p.M296fs*26c.886delADeletion - Frameshift17932254
CACNA1BENSG00000148408ENST00000371372p.?c.390+2T>CUnknown17932254
LRRC16BENSG00000186648ENST00000342740p.E1248Kc.3742G>ASubstitution - Missense17932254
SUPT3HENSG00000196284ENST00000371460p.T256Tc.768C>GSubstitution - coding silent17932254
AGRNENSG00000188157ENST00000379370p.E1608Qc.4822G>CSubstitution - Missense17932254
ADNP2ENSG00000101544ENST00000262198p.P380Lc.1139C>TSubstitution - Missense17932254
USP34ENSG00000115464ENST00000398571p.D624Hc.1870G>CSubstitution - Missense17932254
MASP1ENSG00000127241ENST00000337774p.Q595Qc.1785A>GSubstitution - coding silent17932254
MYO15AENSG00000091536ENST00000205890p.P395Pc.1185C>TSubstitution - coding silent17932254
ENST00000393689p.R4Sc.10C>ASubstitution - Missense
OTOFENSG00000115155ENST00000339598p.I1202Tc.3605T>CSubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.R795Gc.2383C>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.R1466Hc.4397G>ASubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.S246Ic.737G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.?Substitution - Missense19372580
GGA1ENSG00000100083ENST00000343632p.P484Ac.1450C>GSubstitution - Missense16959974
BCAR1ENSG00000050820ENST00000162330p.S407Tc.1220G>CSubstitution - Missense16959974
MCF2L2ENSG00000053524ENST00000328913p.L1039Fc.3115C>TSubstitution - Missense16959974
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense16959974
ZNF25ENSG00000175395ENST00000302609p.E21Kc.61G>ASubstitution - Missense16959974
SEMA5BENSG00000082684ENST00000357599p.I223Mc.669C>GSubstitution - Missense16959974
POLHENSG00000170734ENST00000372236p.G153Dc.458G>ASubstitution - Missense16959974
XIRP1ENSG00000168334ENST00000340369p.L444Hc.1331T>ASubstitution - Missense16959974
ALS2CR12ENSG00000155749ENST00000286190p.?c.623-1G>CUnknown16959974
SMARCAL1ENSG00000138375ENST00000357276p.L432Vc.1294C>GSubstitution - Missense16959974
DNASE1L3ENSG00000163687ENST00000394549p.L19Vc.55C>GSubstitution - Missense16959974
C1orf64ENSG00000183888ENST00000329454p.G100Wc.298G>TSubstitution - Missense16959974
DYSFENSG00000135636ENST00000258104p.L1349Vc.4045C>GSubstitution - Missense16959974
MICAL1ENSG00000135596ENST00000358807p.L309Mc.925C>ASubstitution - Missense16959974
SURF1ENSG00000148290ENST00000371974p.N89Kc.267C>GSubstitution - Missense16959974
RGL1ENSG00000143344ENST00000304685p.Y209Sc.626A>CSubstitution - Missense16959974
SIX4ENSG00000100625ENST00000216513p.E23Qc.67G>CSubstitution - Missense16959974
FARP1ENSG00000152767ENST00000319562p.R714Lc.2141G>TSubstitution - Missense16959974
PKDREJENSG00000130943ENST00000253255p.T1875Ic.5624C>TSubstitution - Missense16959974
CRYAAENSG00000160202ENST00000291554p.D105Hc.313G>CSubstitution - Missense16959974
FKTNENSG00000106692ENST00000223528p.D225Ec.675T>ASubstitution - Missense16959974
TRPC4ENSG00000133107ENST00000379705p.E138Kc.412G>ASubstitution - Missense16959974
UBE2IENSG00000103275ENST00000355803p.?c.334-1G>CUnknown16959974
AKAP6ENSG00000151320ENST00000280979p.K910Mc.2729A>TSubstitution - Missense16959974
RNF149ENSG00000163162ENST00000295317p.E7Kc.19G>ASubstitution - Missense16959974
UQCC1ENSG00000101019ENST00000374385p.W44Sc.131G>CSubstitution - Missense16959974
ATF2ENSG00000115966ENST00000264110p.D352Hc.1054G>CSubstitution - Missense16959974
TESK1ENSG00000107140ENST00000336395p.H539Yc.1615C>TSubstitution - Missense16959974
STX12ENSG00000117758ENST00000373943p.P88Rc.263C>GSubstitution - Missense16959974
JUPENSG00000173801ENST00000393930p.K40_Y53del14c.119_160del42Deletion - In frame16959974
NSMCE2ENSG00000156831ENST00000287437p.L27Fc.81G>CSubstitution - Missense16959974
NFKBIEENSG00000146232ENST00000275015p.Q380*c.1138C>TSubstitution - Nonsense17932254
C10orf54ENSG00000107738ENST00000394957p.V30Vc.90G>ASubstitution - coding silent17932254
TMEM62ENSG00000137842ENST00000260403p.W284Cc.852G>CSubstitution - Missense17932254
CNGB1ENSG00000070729ENST00000251102p.G238Sc.712G>ASubstitution - Missense17932254
BSPRYENSG00000119411ENST00000374183p.A287Tc.859G>ASubstitution - Missense17932254
STAB1ENSG00000010327ENST00000321725p.H1573Pc.4718A>CSubstitution - Missense17932254
CACNA1BENSG00000148408ENST00000371372p.D865Hc.2593G>CSubstitution - Missense17932254
ENST00000264412p.W145Lc.434G>TSubstitution - Missense17932254
FLNAENSG00000196924ENST00000369850p.D2581Hc.7741G>CSubstitution - Missense17932254
PCM1ENSG00000078674ENST00000325083p.I1698Lc.5092A>TSubstitution - Missense17932254
GRIN2CENSG00000161509ENST00000293190p.S846Sc.2538G>ASubstitution - coding silent17932254
MUC2ENSG00000198788ENST00000359061p.Y178fs*6c.533_534delATDeletion - Frameshift17932254
NUFIP2ENSG00000108256ENST00000225388p.R645Tc.1934G>CSubstitution - Missense17932254
ATP2C2ENSG00000064270ENST00000262429p.V879Vc.2637C>TSubstitution - coding silent17932254
COL4A4ENSG00000081052ENST00000396625p.G754Sc.2260G>ASubstitution - Missense17932254
PHF19ENSG00000119403ENST00000373896p.P499Lc.1496C>TSubstitution - Missense17932254
TMEM37ENSG00000171227ENST00000306406p.S138Fc.413C>TSubstitution - Missense17932254
EXOSC3ENSG00000107371ENST00000327304p.K124Nc.372A>TSubstitution - Missense17932254
WBSCR28ENSG00000175877ENST00000320531p.L182Lc.546G>CSubstitution - coding silent17932254
LOXL2ENSG00000134013ENST00000389131p.Q48_A54delc.142_162del21Deletion - In frame17932254
ATP8B4ENSG00000104043ENST00000284509p.D30Dc.90T>CSubstitution - coding silent17932254
CPAMD8ENSG00000160111ENST00000291440p.R1756Pc.5267G>CSubstitution - Missense17932254
MUC16ENSG00000181143ENST00000397910p.A3175fs*111c.9524_9540del17Deletion - Frameshift17932254
NM_014614.1p.H970Dc.2908C>GSubstitution - Missense17932254
MAP7D1ENSG00000116871ENST00000373151p.A367Tc.1099G>ASubstitution - Missense17932254
OR8D2ENSG00000197263ENST00000357438p.S75Fc.224C>TSubstitution - Missense17932254
PODXLENSG00000128567ENST00000378555p.Q494*c.1480C>TSubstitution - Nonsense17932254
CAPN11ENSG00000137225ENST00000398776p.?c.1870-3delCUnknown17932254
APBB1ENSG00000166313ENST00000299402p.E162Kc.484G>ASubstitution - Missense17932254
NM_020137p.R267Rc.799C>ASubstitution - coding silent17932254
CACNA1BENSG00000148408ENST00000371372p.G2097Dc.6290G>ASubstitution - Missense17932254
ENST00000265148.1p.R1429Tc.4286G>CSubstitution - Missense17932254
PKHD1L1ENSG00000205038ENST00000378402p.F1357Fc.4071C>TSubstitution - coding silent17932254
OR9Q2ENSG00000186513ENST00000311591p.Y73Fc.218A>TSubstitution - Missense17932254
PNPLA1ENSG00000180316ENST00000388715p.F80Lc.238T>CSubstitution - Missense17932254
ZNF548ENSG00000188785ENST00000336128p.D24Yc.70G>TSubstitution - Missense17932254
GALNT15ENSG00000131386ENST00000339732p.R414Rc.1242G>ASubstitution - coding silent17932254
CCDC66ENSG00000180376ENST00000394672p.E554Qc.1660G>CSubstitution - Missense17932254
SPATS2ENSG00000123352ENST00000321898p.R533Hc.1598G>ASubstitution - Missense17932254
TGENSG00000042832ENST00000220616p.P1755Rc.5264C>GSubstitution - Missense17932254
EP400ENSG00000183495ENST00000389561p.P2886Pc.8658G>ASubstitution - coding silent17932254
TRPM5ENSG00000070985ENST00000155858p.V277_W293delc.828_878del51Deletion - In frame17932254
NFASCENSG00000163531ENST00000360049p.T923Sc.2768C>GSubstitution - Missense17932254
SLC25A30ENSG00000174032ENST00000519676p.M228Ic.684G>ASubstitution - Missense17932254
ZKSCAN2ENSG00000155592ENST00000328086p.E420Kc.1258G>ASubstitution - Missense17932254
ZSWIM8ENSG00000214655ENST00000398706p.K521Kc.1563G>ASubstitution - coding silent17932254
TIFAENSG00000145365ENST00000361717p.S43Sc.129C>TSubstitution - coding silent17932254
NM_175736.3p.V816Vc.2448G>ASubstitution - coding silent17932254
MAGEB10ENSG00000177689ENST00000356790p.L186Lc.558A>CSubstitution - coding silent17932254
NM_133373.2p.N234_L238delc.699_713del15Deletion - In frame17932254
LRRC16BENSG00000186648ENST00000342740p.K726Kc.2178G>ASubstitution - coding silent17932254
MBLAC1ENSG00000214309ENST00000398075p.E60Qc.178G>CSubstitution - Missense17932254
TLN2ENSG00000171914ENST00000306829p.E2265Kc.6793G>ASubstitution - Missense17932254
PDCD11ENSG00000148843ENST00000369797p.?c.4441-3C>TUnknown17932254
DUOX1ENSG00000137857ENST00000389037p.R43Kc.128G>ASubstitution - Missense17932254
SOX15ENSG00000129194ENST00000250055p.Q194Ec.580C>GSubstitution - Missense17932254
USP29ENSG00000131864ENST00000254181p.L454Lc.1362C>GSubstitution - coding silent17932254
GALK2ENSG00000156958ENST00000327171p.A186Sc.556G>TSubstitution - Missense17932254
RYR1ENSG00000196218ENST00000359596p.R1469Rc.4407G>ASubstitution - coding silent17932254
CNGB1ENSG00000070729ENST00000251102p.E202Ec.606A>GSubstitution - coding silent17932254
LPOENSG00000167419ENST00000262290p.F176Fc.528C>TSubstitution - coding silent17932254
OR2M4ENSG00000171180ENST00000306687p.I34Ic.102C>TSubstitution - coding silent17932254
CACNA1HENSG00000196557ENST00000358590p.A1471Tc.4411G>ASubstitution - Missense17932254
FMODENSG00000122176ENST00000354955p.H185Dc.553C>GSubstitution - Missense17932254