Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
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ECC12 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

871 mutations reported
358 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
RABL6ENSG00000196642ENST00000311502p.R144Qc.431G>ASubstitution - Missense
SPAG9ENSG00000008294ENST00000357122p.F632Lc.1896T>GSubstitution - Missense
NM_016377.2p.E44Kc.130G>ASubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.V793Ic.2377G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.T4882Tc.14646G>ASubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.S393Cc.1177A>TSubstitution - Missense
PLA2G7ENSG00000146070ENST00000274793p.?c.110-10T>CUnknown
RARSENSG00000113643ENST00000231572p.?c.579+8T>GUnknown
TP53ENSG00000141510ENST00000420246p.V216Mc.646G>ASubstitution - Missense
ENST00000373851p.S811Fc.2432C>TSubstitution - Missense
S100A1ENSG00000160678ENST00000368696p.A8Ac.24G>ASubstitution - coding silent
MYOM3ENSG00000142661ENST00000338909p.L95Lc.283T>CSubstitution - coding silent
MYH14ENSG00000105357ENST00000440075p.R785Qc.2354G>ASubstitution - Missense
ATF7ENSG00000170653ENST00000328463p.S481Sc.1443G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.V216Mc.646G>ASubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.P1262Rc.3785C>GSubstitution - Missense
ENSG00000180574ENST00000538173p.V245Vc.735A>GSubstitution - coding silent
TCN1ENSG00000134827ENST00000257264p.I389Ic.1167T>CSubstitution - coding silent
CEP170BENSG00000099814ENST00000414716p.P794Pc.2382C>TSubstitution - coding silent
SDCCAG8ENSG00000054282ENST00000366541p.H266Hc.798T>CSubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.Y341Cc.1022A>GSubstitution - Missense
PAQR5ENSG00000137819ENST00000395407p.S218Sc.654G>CSubstitution - coding silent
GOLGA8AENSG00000175265ENST00000432566p.R59Wc.175C>TSubstitution - Missense
UGT3A1ENSG00000145626ENST00000274278p.D129Vc.386A>TSubstitution - Missense
XIAPENSG00000101966ENST00000434753p.E350delEc.1045_1047delGAGDeletion - In frame
C16orf71ENSG00000166246ENST00000299320p.D40Ec.120C>ASubstitution - Missense
THNSL2ENSG00000144115ENST00000324166p.G53Gc.159C>ASubstitution - coding silent
HLCSENSG00000159267ENST00000399120p.N570Nc.1710C>TSubstitution - coding silent
ZNF417ENSG00000173480ENST00000312026p.D19Vc.56A>TSubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.A1971Ac.5913A>GSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.L861Lc.2583C>TSubstitution - coding silent
RSPO3ENSG00000146374ENST00000368317p.K255Qc.763A>CSubstitution - Missense
ENSG00000196987ENST00000357566p.R104Gc.310C>GSubstitution - Missense
HIST1H2AIENSG00000196747ENST00000358739p.?c.1_350del350Unknown
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
PSG6ENSG00000170848ENST00000187910p.V160Ac.479T>CSubstitution - Missense
PAIP1ENSG00000172239ENST00000306846p.R475Hc.1424G>ASubstitution - Missense
ITPKBENSG00000143772ENST00000366784p.R590Wc.1768C>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.G2225Rc.6673G>CSubstitution - Missense
PCDHA1ENSG00000204970ENST00000378133p.D128Nc.382G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000404857p.I217Ic.651C>ASubstitution - coding silent
VWFENSG00000110799ENST00000261405p.G1643Sc.4927G>ASubstitution - Missense
LTBRENSG00000111321ENST00000228918p.P319Qc.956C>ASubstitution - Missense
CCDC6ENSG00000108091ENST00000263102p.S464Lc.1391C>TSubstitution - Missense
DENND5BENSG00000170456ENST00000389082p.K975Rc.2924A>GSubstitution - Missense
ITGA3ENSG00000005884ENST00000320031p.W953Lc.2858G>TSubstitution - Missense
DNAJC10ENSG00000077232ENST00000264065p.T242Tc.726A>TSubstitution - coding silent
INPP1ENSG00000151689ENST00000392329p.A21Ac.63G>ASubstitution - coding silent
CCDC155ENSG00000161609ENST00000447857p.?c.43+8G>CUnknown
MCM8ENSG00000125885ENST00000265187p.?c.254-6G>TUnknown
KCNS2ENSG00000156486ENST00000287042p.T373Sc.1117A>TSubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.V1715Fc.5143G>TSubstitution - Missense
LSMEM2ENSG00000179564ENST00000316436p.L35Lc.103T>CSubstitution - coding silent
SCGNENSG00000079689ENST00000377961p.?c.1_83-22del957Unknown
LILRB5ENSG00000105609ENST00000316219p.I85Tc.254T>CSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.?c.996-9G>CUnknown
LLGL2ENSG00000073350ENST00000392550p.A547Tc.1639G>ASubstitution - Missense
SLC25A46ENSG00000164209ENST00000355943p.Y295Sc.884A>CSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
SPANXN4ENSG00000189326ENST00000446864p.T8Nc.23C>ASubstitution - Missense
ZP2ENSG00000103310ENST00000219593p.T387Ic.1160C>TSubstitution - Missense
ZFP2ENSG00000198939ENST00000361362p.T224Tc.672C>ASubstitution - coding silent
ADIPOQENSG00000181092ENST00000320741p.T165Kc.494C>ASubstitution - Missense
MUSKENSG00000030304ENST00000374438p.I162fs*>29c.480_481insAInsertion - Frameshift
RB1ENSG00000139687ENST00000267163p.?c.166_264+5del104Unknown
KCNMA1ENSG00000156113ENST00000406533p.I217Ic.651C>ASubstitution - coding silent
CEP170BENSG00000099814ENST00000556508p.P724Pc.2172C>TSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.A3354Tc.10060G>ASubstitution - Missense
ACADMENSG00000117054ENST00000370841p.R17Hc.50G>ASubstitution - Missense
GLIS3ENSG00000107249ENST00000324333p.P115Pc.345A>TSubstitution - coding silent
UGT2B28ENSG00000135226ENST00000335568p.Y381Hc.1141T>CSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.A1782Ac.5346G>TSubstitution - coding silent
ZNF616ENSG00000204611ENST00000330123p.G293Sc.877G>ASubstitution - Missense
ZNF773ENSG00000152439ENST00000282292p.R211Ic.632G>TSubstitution - Missense
LLGL2ENSG00000073350ENST00000167462p.A547Tc.1639G>ASubstitution - Missense
MPP6ENSG00000105926ENST00000396475p.S537Nc.1610G>ASubstitution - Missense
GTF2IRD1ENSG00000006704ENST00000265755p.S528Sc.1584G>ASubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000545377p.G1294Gc.3882C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.R1276Rc.3828C>TSubstitution - coding silent
SLC6A19ENSG00000174358ENST00000304460p.S170Fc.509C>TSubstitution - Missense
PHC3ENSG00000173889ENST00000495893p.?c.919+6A>TUnknown
WDR87ENSG00000171804ENST00000303868p.R2834Cc.8500C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.L186Lc.558G>CSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.A1447Vc.4340C>TSubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.P1102Lc.3305C>TSubstitution - Missense
DENND5BENSG00000170456ENST00000306833p.K1010Rc.3029A>GSubstitution - Missense
RABL6ENSG00000196642ENST00000371671p.R66Qc.197G>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.D128Nc.382G>ASubstitution - Missense
OR6P1ENSG00000186440ENST00000334632p.L256Hc.767T>ASubstitution - Missense
ARHGEF17ENSG00000110237ENST00000263674p.R851*c.2551C>TSubstitution - Nonsense
AMOTL1ENSG00000166025ENST00000433060p.A883Tc.2647G>ASubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.Y182Cc.545A>GSubstitution - Missense
C11orf91ENSG00000205177ENST00000379011p.S34Sc.102C>TSubstitution - coding silent
HEPHL1ENSG00000181333ENST00000315765p.P506Ac.1516C>GSubstitution - Missense
CHADENSG00000136457ENST00000258969p.R312Wc.934C>TSubstitution - Missense
OSBPL7ENSG00000006025ENST00000007414p.Y824Yc.2472C>TSubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000202578p.K639Rc.1916A>GSubstitution - Missense
DSG4ENSG00000175065ENST00000359747p.R1050Qc.3149G>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.R196delRc.585_587delGAGDeletion - In frame
DLG1ENSG00000075711ENST00000346964p.H798Qc.2394T>GSubstitution - Missense
ANKRA2ENSG00000164331ENST00000296785p.T130Ic.389C>TSubstitution - Missense
NELFBENSG00000188986ENST00000343053p.V389Vc.1167G>ASubstitution - coding silent
LAMB1ENSG00000091136ENST00000222399p.S1228Rc.3684C>ASubstitution - Missense
CACNB4ENSG00000182389ENST00000539935p.S264Sc.792T>GSubstitution - coding silent
ENST00000425592_v68p.E7Kc.19G>ASubstitution - Missense
LHX2ENSG00000106689ENST00000373615p.?c.728-8C>TUnknown
FER1L6ENSG00000214814ENST00000399018p.I1318fs*4c.3952_3953delATDeletion - Frameshift
ACADMENSG00000117054ENST00000420607p.R21Hc.62G>ASubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.L1480Fc.4438C>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.E1293Dc.3879A>TSubstitution - Missense
PPP1R3CENSG00000119938ENST00000238994p.N120Dc.358A>GSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.R606Lc.1817G>TSubstitution - Missense
SU_OBSCN.1p.H2995Qc.8985C>GSubstitution - Missense
OR5AU1ENSG00000169327ENST00000304418p.I100Lc.298A>CSubstitution - Missense
VENTXENSG00000151650ENST00000325980p.R104Hc.311G>ASubstitution - Missense
KIAA1522ENSG00000162522ENST00000401073p.A547Ac.1641A>GSubstitution - coding silent
FRMD7ENSG00000165694ENST00000298542p.L292Pc.875T>CSubstitution - Missense
PITPNBENSG00000180957ENST00000335272p.S262Sc.786C>TSubstitution - coding silent
PURGENSG00000172733ENST00000339382p.E89*c.265G>TSubstitution - Nonsense
ABCA9ENSG00000154258ENST00000340001p.V1274Vc.3822G>ASubstitution - coding silent
ENST00000316893p.V1642Mc.4924G>ASubstitution - Missense
ZXDAENSG00000198205ENST00000358697p.I205Vc.613A>GSubstitution - Missense
ZNF236ENSG00000130856ENST00000253159p.N286Kc.858C>GSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.E3777Gc.11330A>GSubstitution - Missense
PCDHA1ENSG00000204970ENST00000378133p.A484Vc.1451C>TSubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.V347Ic.1039G>ASubstitution - Missense
ENST00000319748p.H106Yc.316C>TSubstitution - Missense
ENST00000204005_v70p.R1253Rc.3759G>TSubstitution - coding silent
XM_372262.3p.D174Dc.522C>TSubstitution - coding silent
LMO7ENSG00000136153ENST00000341547p.P1213Rc.3638C>GSubstitution - Missense
ENST00000377560_v62p.A3733Tc.11197G>ASubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.N329Kc.987T>ASubstitution - Missense
SYT15ENSG00000204176ENST00000374321p.E420Ec.1260G>ASubstitution - coding silent
HIST3H2BBENSG00000196890ENST00000369160p.R32Cc.94C>TSubstitution - Missense
ST3GAL4ENSG00000110080ENST00000227495p.L15Vc.43C>GSubstitution - Missense
OR10R2ENSG00000198965ENST00000368152p.V183Ac.548T>CSubstitution - Missense
HPSE2ENSG00000172987ENST00000370552p.F78fs*18c.233_236delTCCTDeletion - Frameshift
ACP6ENSG00000162836ENST00000369238p.T164Nc.491C>ASubstitution - Missense
PRAMEF6ENSG00000232423ENST00000376182p.F378Lc.1134T>GSubstitution - Missense
ROR1ENSG00000185483ENST00000371079p.A923Tc.2767G>ASubstitution - Missense
OR2T34ENSG00000183310ENST00000328782p.L39Lc.117T>GSubstitution - coding silent
SCARF1ENSG00000074660ENST00000263071p.D521Dc.1563C>TSubstitution - coding silent
SLC25A23ENSG00000125648ENST00000301454p.R332Hc.995G>ASubstitution - Missense
PAFAH1B1ENSG00000007168ENST00000397195p.R410Cc.1228C>TSubstitution - Missense
DSG4ENSG00000175065ENST00000308128p.R1031Qc.3092G>ASubstitution - Missense
PLECENSG00000178209ENST00000354958p.D2184Dc.6552C>TSubstitution - coding silent
MRS2ENSG00000124532ENST00000378386p.S72Tc.214T>ASubstitution - Missense
TGM6ENSG00000166948ENST00000202625p.V314Mc.940G>ASubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.P1410Lc.4229C>TSubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.T168Tc.504C>TSubstitution - coding silent
IL17CENSG00000124391ENST00000244241p.I135Ic.405C>TSubstitution - coding silent
FGFR1ENSG00000077782ENST00000447712p.V358Ic.1072G>ASubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.?c.2018+1G>AUnknown
NDST3ENSG00000164100ENST00000296499p.K687Ec.2059A>GSubstitution - Missense
GINM1ENSG00000055211ENST00000367419p.L208Pc.623T>CSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.T2596Kc.7787C>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.Y88Yc.264C>TSubstitution - coding silent
PLXNB1ENSG00000164050ENST00000296440p.?c.1811-9C>GUnknown
DSTENSG00000151914ENST00000370769p.R1283Wc.3847C>TSubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.R412Kc.1235G>ASubstitution - Missense
ENST00000397266p.L336Fc.1006C>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.L1480Fc.4438C>TSubstitution - Missense
HEPHENSG00000089472ENST00000519389p.I399Vc.1195A>GSubstitution - Missense
AGMATENSG00000116771ENST00000375826p.V313Mc.937G>ASubstitution - Missense
NM_002094.1p.N295Sc.884A>GSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.L801Lc.2401T>CSubstitution - coding silent
EPB42ENSG00000166947ENST00000300215p.?c.287-9T>CUnknown
RGMAENSG00000182175ENST00000329082p.T61Rc.182C>GSubstitution - Missense
HAGHENSG00000063854ENST00000397353p.R162Pc.485G>CSubstitution - Missense
LRIG2ENSG00000198799ENST00000361127p.?c.305+865_542del2118Unknown
OR2T2ENSG00000196240ENST00000342927p.A39Ac.117T>GSubstitution - coding silent
FLCNENSG00000154803ENST00000389169p.T270Tc.810C>TSubstitution - coding silent
RPS11ENSG00000142534ENST00000270625p.?c.353+7G>AUnknown
ZNF208ENSG00000160321ENST00000397126p.E821Kc.2461G>ASubstitution - Missense
ENST00000428290_v65p.E821Kc.2461G>ASubstitution - Missense
KRTAP10-5ENSG00000241123ENST00000400372p.V258Mc.772G>ASubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.D887Gc.2660A>GSubstitution - Missense
ZNF668ENSG00000167394ENST00000539836p.T18Tc.54C>TSubstitution - coding silent
NM_001010888.1p.V100Lc.298G>CSubstitution - Missense
IL12BENSG00000113302ENST00000231228p.C274Cc.822C>TSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.R231*c.691C>TSubstitution - Nonsense
AIFM3ENSG00000183773ENST00000399167p.F145Cc.434T>GSubstitution - Missense
GPD2ENSG00000115159ENST00000310454p.L182Fc.546G>CSubstitution - Missense
GSTA3ENSG00000174156ENST00000211122p.R20Qc.59G>ASubstitution - Missense
DDX41ENSG00000183258ENST00000507955p.R255Hc.764G>ASubstitution - Missense
SYT15ENSG00000204176ENST00000374323p.E473Ec.1419G>ASubstitution - coding silent
ENST00000312777_v70p.R486Wc.1456C>TSubstitution - Missense
KLHL12ENSG00000117153ENST00000435533p.S93Ic.278G>TSubstitution - Missense
OMA1ENSG00000162600ENST00000358603p.R364*c.1090C>TSubstitution - Nonsense
C2orf54ENSG00000172478ENST00000307486p.R119Cc.355C>TSubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.P563Pc.1689G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.V216Mc.646G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.H3125Qc.9375C>GSubstitution - Missense
OR4B1ENSG00000175619ENST00000309562p.L255Ic.763C>ASubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.T636Ic.1907C>TSubstitution - Missense
ENSG00000205148ENST00000378936p.H43Lc.128A>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.S1617Sc.4851G>ASubstitution - coding silent
SYCP2ENSG00000196074ENST00000357552p.?c.2980-6C>TUnknown
DLL1ENSG00000198719ENST00000366756p.P385Tc.1153C>ASubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.P70Tc.208C>ASubstitution - Missense
SHISA6ENSG00000188803ENST00000441885p.Y333Fc.998A>TSubstitution - Missense
ZNF432ENSG00000256087ENST00000221315p.E20Ec.60G>ASubstitution - coding silent
RNMTL1ENSG00000171861ENST00000304478p.?c.314+8G>CUnknown
SLC4A3ENSG00000114923ENST00000273063p.R104Wc.310C>TSubstitution - Missense
XPO6ENSG00000169180ENST00000304658p.L147fs*1c.433delCDeletion - Frameshift
LRFN2ENSG00000156564ENST00000338305p.T192Ac.574A>GSubstitution - Missense
RABL6ENSG00000196642ENST00000371663p.R66Qc.197G>ASubstitution - Missense
GHDCENSG00000167925ENST00000301671p.R234Cc.700C>TSubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.S1043Sc.3129G>ASubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.S2450Sc.7350C>TSubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
PRAMEF6ENSG00000232423ENST00000376182p.N381Nc.1143C>TSubstitution - coding silent
AIFM3ENSG00000183773ENST00000405089p.F151Cc.452T>GSubstitution - Missense
PRRT1ENSG00000204314ENST00000375150p.G116Rc.346G>ASubstitution - Missense
ACAD10ENSG00000111271ENST00000313698p.R789Hc.2366G>ASubstitution - Missense
PABPC5ENSG00000174740ENST00000312600p.C382Cc.1146C>TSubstitution - coding silent
SASS6ENSG00000156876ENST00000287482p.L192Lc.576A>GSubstitution - coding silent
SZT2ENSG00000198198ENST00000562955p.F2575Fc.7725C>TSubstitution - coding silent
MLYCDENSG00000103150ENST00000262430p.L401Lc.1203G>ASubstitution - coding silent
ADAM23ENSG00000114948ENST00000264377p.V392Mc.1174G>ASubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.L511Qc.1532T>ASubstitution - Missense
SIGLEC10ENSG00000142512ENST00000439889p.L289Lc.867G>CSubstitution - coding silent
BIN3ENSG00000147439ENST00000276416p.E109Qc.325G>CSubstitution - Missense
C2orf54ENSG00000172478ENST00000388934p.R268Cc.802C>TSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.Y689Yc.2067C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
CXorf22ENSG00000165164ENST00000297866p.G6Dc.17G>ASubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.?c.1450-10G>TUnknown
MAP3K19ENSG00000176601ENST00000375845p.C459Yc.1376G>ASubstitution - Missense
ZFAND3ENSG00000156639ENST00000287218p.R133Rc.399G>ASubstitution - coding silent
DSTENSG00000151914ENST00000370765p.R957Wc.2869C>TSubstitution - Missense
BZRAP1ENSG00000005379ENST00000355701p.Q764Rc.2291A>GSubstitution - Missense
SH3RF2ENSG00000156463ENST00000359120p.R480Hc.1439G>ASubstitution - Missense
SCAIENSG00000173611ENST00000373549p.T468Tc.1404A>GSubstitution - coding silent
SLC25A23ENSG00000125648ENST00000334510p.R332Hc.995G>ASubstitution - Missense
TRIOENSG00000038382ENST00000344135p.G353Sc.1057G>ASubstitution - Missense
AASDHENSG00000157426ENST00000502617p.L96Lc.288A>GSubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.S231Sc.693T>CSubstitution - coding silent
ENST00000402998p.S459Sc.1377T>CSubstitution - coding silent
LMO7ENSG00000136153ENST00000357063p.P1547Rc.4640C>GSubstitution - Missense
DPYSL4ENSG00000151640ENST00000338492p.V274Mc.820G>ASubstitution - Missense
GLYATL2ENSG00000156689ENST00000287275p.K277Nc.831G>CSubstitution - Missense
ENO4ENSG00000188316ENST00000341276p.T274Mc.821C>TSubstitution - Missense
GFRA1ENSG00000151892ENST00000439649p.P394Pc.1182G>ASubstitution - coding silent
RC3H1ENSG00000135870ENST00000258349p.Y608Yc.1824T>CSubstitution - coding silent
RSC1A1ENSG00000215695ENST00000345034p.L334Fc.1000C>TSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.P1708Lc.5123C>TSubstitution - Missense
ZNF558ENSG00000167785ENST00000301475p.?c.248-1G>AUnknown
GPATCH1ENSG00000076650ENST00000170564p.T652Mc.1955C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.C675Fc.2024G>TSubstitution - Missense
C17orf70ENSG00000185504ENST00000327787p.T659Mc.1976C>TSubstitution - Missense
NOS2ENSG00000007171ENST00000313735p.G649Wc.1945G>TSubstitution - Missense
DIP2AENSG00000160305ENST00000457905p.P201Lc.602C>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.N387Nc.1161C>TSubstitution - coding silent
NM_138737.1p.I345Vc.1033A>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.?c.4811-1G>AUnknown
RHBDL3ENSG00000141314ENST00000269051p.W296Rc.886T>ASubstitution - Missense
SIL1ENSG00000120725ENST00000394817p.H90Hc.270C>TSubstitution - coding silent
FUKENSG00000157353ENST00000288078p.S263Cc.788C>GSubstitution - Missense
FUKENSG00000157353ENST00000378912p.S295Cc.884C>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000372443p.I217Ic.651C>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.S231Sc.693T>CSubstitution - coding silent
S1PR1ENSG00000170989ENST00000305352p.S380Yc.1139C>ASubstitution - Missense
ITPKBENSG00000143772ENST00000429204p.R590Wc.1768C>TSubstitution - Missense
EPC1ENSG00000120616ENST00000263062p.S733Tc.2198G>CSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.V3658Mc.10972G>ASubstitution - Missense
BCANENSG00000132692ENST00000361588p.R86Gc.256C>GSubstitution - Missense
TTC5ENSG00000136319ENST00000258821p.L277Fc.829C>TSubstitution - Missense
ENST00000300053p.S344Rc.1032C>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.E1463Ec.4389A>GSubstitution - coding silent
NM_015401.1p.L943Lc.2829G>ASubstitution - coding silent
ENST00000414575p.G470Gc.1410C>TSubstitution - coding silent
CDCA8ENSG00000134690ENST00000373055p.A22Pc.64G>CSubstitution - Missense
ENST00000238583p.S47Nc.140G>ASubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.A497Ac.1491T>GSubstitution - coding silent
CEP152ENSG00000103995ENST00000399334p.P1187Ac.3559C>GSubstitution - Missense
ENST00000298047_v61p.A3354Tc.10060G>ASubstitution - Missense
ORMDL3ENSG00000172057ENST00000394169p.A29Sc.85G>TSubstitution - Missense
ZNF213ENSG00000085644ENST00000574902p.V117Vc.351C>TSubstitution - coding silent
TTC28ENSG00000100154ENST00000397906p.Y973Yc.2919C>TSubstitution - coding silent
ZNF419ENSG00000105136ENST00000347466p.Q412Pc.1235A>CSubstitution - Missense
ZNF667ENSG00000198046ENST00000292069p.?c.33+8G>TUnknown
EIF5BENSG00000158417ENST00000289371p.R881Cc.2641C>TSubstitution - Missense
SETMARENSG00000170364ENST00000358065p.R236*c.706C>TSubstitution - Nonsense
DSTENSG00000151914ENST00000244364p.R957Wc.2869C>TSubstitution - Missense
ENST00000448712p.G574Gc.1722G>TSubstitution - coding silent
EPHB3ENSG00000182580ENST00000330394p.A602Vc.1805C>TSubstitution - Missense
UBQLNLENSG00000175518ENST00000380184p.V401Lc.1201G>CSubstitution - Missense
UGT3A1ENSG00000145626ENST00000333811p.D75Vc.224A>TSubstitution - Missense
ENST00000231228_v70p.C274Cc.822C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.V216Mc.646G>ASubstitution - Missense
ENST00000335883p.K547Kc.1641A>GSubstitution - coding silent
CR2ENSG00000117322ENST00000367057p.?c.1571-8C>AUnknown
ZNF208ENSG00000160321ENST00000397126p.E921Kc.2761G>ASubstitution - Missense
SLC7A10ENSG00000130876ENST00000253188p.D383Nc.1147G>ASubstitution - Missense
SEC14L1ENSG00000129657ENST00000436233p.A328Ac.984G>ASubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000344754p.K639Rc.1916A>GSubstitution - Missense
ZCCHC7ENSG00000147905ENST00000336755p.R109Sc.327A>CSubstitution - Missense
FHOD3ENSG00000134775ENST00000257209p.R341Wc.1021C>TSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.V358Ic.1072G>ASubstitution - Missense
PPP2CBENSG00000104695ENST00000221138p.T30Ac.88A>GSubstitution - Missense
INMTENSG00000241644ENST00000013222p.P148Lc.443C>TSubstitution - Missense
XPO6ENSG00000169180ENST00000304658p.L147fs*1c.433delCDeletion - Frameshift
PAGE2ENSG00000234068ENST00000374968p.I28Tc.83T>CSubstitution - Missense
NM_001198.2p.Q598Rc.1793A>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.S216Rc.648T>ASubstitution - Missense
NM_024947.2p.?c.826+6A>TUnknown
DDX19AENSG00000168872ENST00000302243p.E380Ac.1139A>CSubstitution - Missense
ZFPM2ENSG00000169946ENST00000407775p.G71Vc.212G>TSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.S3796Sc.11388G>ASubstitution - coding silent
HLA-DQA2ENSG00000237541ENST00000374940p.L8Lc.24G>TSubstitution - coding silent
TRIM60ENSG00000176979ENST00000512596p.S120Gc.358A>GSubstitution - Missense
CCDC65ENSG00000139537ENST00000266984p.M1Vc.1A>GSubstitution - Missense
FAM129BENSG00000136830ENST00000373312p.?c.811-10C>TUnknown
RFX4ENSG00000111783ENST00000357881p.F443Fc.1329C>TSubstitution - coding silent
OR11H12ENSG00000257115ENST00000550708p.G58Rc.172G>ASubstitution - Missense
TXNIPENSG00000117289ENST00000369317p.I269Vc.805A>GSubstitution - Missense
PRAMEF6ENSG00000232423ENST00000376182p.L412Vc.1234C>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.L1317Lc.3951G>TSubstitution - coding silent
ITGA4ENSG00000115232ENST00000397033p.V459Vc.1377C>TSubstitution - coding silent
ISM1ENSG00000101230ENST00000262487p.T249Ac.745A>GSubstitution - Missense
MYO1CENSG00000197879ENST00000361007p.L574Lc.1720C>TSubstitution - coding silent
FBXW9ENSG00000132004ENST00000393261p.?c.1237-8C>TUnknown
C17orf70ENSG00000185504ENST00000327787p.T810Mc.2429C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.I1143Vc.3427A>GSubstitution - Missense
SU_NRBP2p.?c.992-6C>TUnknown
SHISA6ENSG00000188803ENST00000432116p.Y314Fc.941A>TSubstitution - Missense
ZNF525ENSG00000203326ENST00000474037p.R291Qc.872G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.?c.996-9G>CUnknown
ZNF419ENSG00000105136ENST00000424930p.Q445Pc.1334A>CSubstitution - Missense
RSPO3ENSG00000146374ENST00000356698p.K255Qc.763A>CSubstitution - Missense
SPAG9ENSG00000008294ENST00000262013p.F646Lc.1938T>GSubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.S1188Sc.3564G>ASubstitution - coding silent
UBR5ENSG00000104517ENST00000520539p.A2639Tc.7915G>ASubstitution - Missense
HLA-FENSG00000204642ENST00000259951p.S351Cc.1051A>TSubstitution - Missense
CHP2ENSG00000166869ENST00000300113p.R40Kc.119G>ASubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.R820Hc.2459G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374415p.V392Mc.1174G>ASubstitution - Missense
NEK11ENSG00000114670ENST00000429253p.A526Ac.1578G>ASubstitution - coding silent
PCDHA1ENSG00000204970ENST00000378133p.P563Pc.1689G>ASubstitution - coding silent
SLIT1ENSG00000187122ENST00000266058p.I554Nc.1661T>ASubstitution - Missense
CCDC65ENSG00000139537ENST00000320516p.M1Vc.1A>GSubstitution - Missense
FCGR1AENSG00000150337ENST00000369168p.S66Lc.197C>TSubstitution - Missense
MYBPHLENSG00000221986ENST00000357155p.T181Mc.542C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.L1361Lc.4083G>TSubstitution - coding silent
TRIM49ENSG00000168930ENST00000329758p.Y341Cc.1022A>GSubstitution - Missense
FZD4ENSG00000174804ENST00000531380p.G530Ec.1589G>ASubstitution - Missense
PAK6ENSG00000137843ENST00000441369p.V640Vc.1920G>TSubstitution - coding silent
ITGA3ENSG00000005884ENST00000007722p.S742Sc.2226T>CSubstitution - coding silent
CCDC144NLENSG00000205212ENST00000327925p.V96Vc.288G>ASubstitution - coding silent
TAOK1ENSG00000160551ENST00000261716p.L218Lc.654A>GSubstitution - coding silent
SIK1ENSG00000142178ENST00000270162p.R619Wc.1855C>TSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.T200Ic.599C>TSubstitution - Missense
PITPNBENSG00000180957ENST00000455418p.S264Sc.792C>TSubstitution - coding silent
RETSATENSG00000042445ENST00000295802p.?c.799+1delgUnknown
XYLBENSG00000093217ENST00000207870p.?c.1194+5A>GUnknown
AKAP12ENSG00000131016ENST00000402676p.K1315Ec.3943A>GSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.166_264+5del104Unknown
PFKPENSG00000067057ENST00000381125p.A428Gc.1283C>GSubstitution - Missense
PFKPENSG00000067057ENST00000381075p.A420Gc.1259C>GSubstitution - Missense
HOXC10ENSG00000180818ENST00000303460p.K203Kc.609G>ASubstitution - coding silent
PAPSS2ENSG00000198682ENST00000361175p.T250Tc.750T>CSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.R606Lc.1817G>TSubstitution - Missense
HEATR1ENSG00000119285ENST00000366582p.?c.6347-5T>CUnknown
GSTM2ENSG00000213366ENST00000241337p.M1Ic.3G>ASubstitution - Missense
BCL2L14ENSG00000121380ENST00000396369p.G250Gc.750A>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.L1361Lc.4083G>TSubstitution - coding silent
CRNNENSG00000143536ENST00000271835p.G237Sc.709G>ASubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.S1418Sc.4254G>ASubstitution - coding silent
OR2T3ENSG00000196539ENST00000359594p.L39Lc.117T>GSubstitution - coding silent
NPEPPSENSG00000141279ENST00000322157p.L704Lc.2112C>TSubstitution - coding silent
ENST00000409172p.H236Pc.707A>CSubstitution - Missense
PDE6GENSG00000185527ENST00000331056p.?c.187+7C>TUnknown
RNF213ENSG00000173821ENST00000336301p.A2312Vc.6935C>TSubstitution - Missense
TNFRSF11AENSG00000141655ENST00000269485p.?c.522-5C>AUnknown
ZNF211ENSG00000121417ENST00000240731p.Q14Rc.41A>GSubstitution - Missense
PRRT2ENSG00000167371ENST00000358758p.D147Hc.439G>CSubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.D237Gc.710A>GSubstitution - Missense
OTTHUMT00000055796.1p.S103Sc.309A>GSubstitution - coding silent
ZFHX3ENSG00000140836ENST00000268489p.I2216Vc.6646A>GSubstitution - Missense
GABRPENSG00000094755ENST00000518525p.T407Ic.1220C>TSubstitution - Missense
PRRT1ENSG00000204314ENST00000211413p.G197Rc.589G>ASubstitution - Missense
GPR110ENSG00000153292ENST00000371253p.A499Vc.1496C>TSubstitution - Missense
ABCB8ENSG00000197150ENST00000356058p.V83Mc.247G>ASubstitution - Missense
AGBL1ENSG00000166748ENST00000389298p.?c.1042+9G>TUnknown
CYFIP1ENSG00000068793ENST00000435939p.A594Vc.1781C>TSubstitution - Missense
CAPN8ENSG00000203697ENST00000430824p.A6Tc.16G>ASubstitution - Missense
XM_290527.3p.?c.306+10C>AUnknown
NR1H4ENSG00000012504ENST00000551379p.S372Pc.1114T>CSubstitution - Missense
SCAF11ENSG00000139218ENST00000369367p.L1005Lc.3015A>GSubstitution - coding silent
SCMH1ENSG00000010803ENST00000372597p.A350Tc.1048G>ASubstitution - Missense
CD101ENSG00000134256ENST00000369470p.T385Ac.1153A>GSubstitution - Missense
FBXW8ENSG00000174989ENST00000309909p.R553Wc.1657C>TSubstitution - Missense
RPP38ENSG00000152464ENST00000378203p.A252Vc.755C>TSubstitution - Missense
BNIP2ENSG00000140299ENST00000267859p.V293Dc.878T>ASubstitution - Missense
RICTORENSG00000164327ENST00000296782p.L1561Rc.4682T>GSubstitution - Missense
MCM8ENSG00000125885ENST00000378896p.?c.254-6G>TUnknown
TECENSG00000135605ENST00000381501p.Y343Yc.1029C>TSubstitution - coding silent
NLRC5ENSG00000140853ENST00000262510p.Q946Pc.2837A>CSubstitution - Missense
ENST00000398685p.Y98Yc.294C>TSubstitution - coding silent
CRIM1ENSG00000150938ENST00000280527p.?c.331+3_331+4insAUnknown
RNF182ENSG00000180537ENST00000537663p.L91Lc.273G>ASubstitution - coding silent
SMARCA2ENSG00000080503ENST00000302401p.?c.99+10C>TUnknown
ZNF236ENSG00000130856ENST00000543926p.N286Kc.858C>GSubstitution - Missense
TBC1D7ENSG00000145979ENST00000379300p.S169Sc.507C>TSubstitution - coding silent
RGS22ENSG00000132554ENST00000360863p.D757Dc.2271C>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.S965Sc.2895T>CSubstitution - coding silent
CNTRLENSG00000119397ENST00000373855p.F2216fs*5c.6647delTDeletion - Frameshift
NOSTRINENSG00000163072ENST00000444448p.H454Hc.1362T>CSubstitution - coding silent
ENST00000377993p.T220Tc.660G>ASubstitution - coding silent
ZNF300ENSG00000145908ENST00000446148p.G319Rc.955G>ASubstitution - Missense
GFRA1ENSG00000151892ENST00000369236p.P389Pc.1167G>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000436393p.S201Sc.603T>CSubstitution - coding silent
PCBP2ENSG00000197111ENST00000359462p.Q307Qc.921A>GSubstitution - coding silent
IQGAP3ENSG00000183856ENST00000361170p.Q594Lc.1781A>TSubstitution - Missense
IPO4ENSG00000196497ENST00000354464p.I1001Tc.3002T>CSubstitution - Missense
HPSE2ENSG00000172987ENST00000370546p.F78fs*18c.233_236delTCCTDeletion - Frameshift
CSMD2ENSG00000121904ENST00000373381p.E1503Ec.4509A>GSubstitution - coding silent
ZSWIM5ENSG00000162415ENST00000359600p.L693Lc.2079G>CSubstitution - coding silent
SIPA1L1ENSG00000197555ENST00000555818p.S94Ic.281G>TSubstitution - Missense
OSBPL5ENSG00000021762ENST00000263650p.T263Tc.789C>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.S321Nc.962G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.S321Nc.962G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.P792Tc.2374C>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.P792Tc.2374C>ASubstitution - Missense
IFIH1ENSG00000115267ENST00000263642p.K668Tc.2003A>CSubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.N513Sc.1538A>GSubstitution - Missense
NOSTRINENSG00000163072ENST00000317647p.H397Hc.1191T>CSubstitution - coding silent
TNCENSG00000041982ENST00000350763p.G617Rc.1849G>ASubstitution - Missense
ENST00000425592p.E7Kc.19G>ASubstitution - Missense
FAM129BENSG00000136830ENST00000373314p.?c.772-10C>TUnknown
TRIM60ENSG00000176979ENST00000512596p.C119Cc.357C>TSubstitution - coding silent
ENST00000330241p.E193_G194insEc.561_562insGAGInsertion - In frame
HLA-DQA1ENSG00000196735ENST00000374949p.G231Cc.691G>TSubstitution - Missense
MRPL14ENSG00000180992ENST00000372014p.T25Tc.75C>ASubstitution - coding silent
GPR116ENSG00000069122ENST00000265417p.?c.328+6T>GUnknown
PKHD1ENSG00000170927ENST00000371117p.R2891Cc.8671C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.R2891Cc.8671C>TSubstitution - Missense
AFAP1L2ENSG00000169129ENST00000545353p.H738Yc.2212C>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.I217Ic.651C>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404771p.I154Ic.462C>ASubstitution - coding silent
OR56B1ENSG00000181023ENST00000317121p.Y300Hc.898T>CSubstitution - Missense
ATP12AENSG00000075673ENST00000218548p.N598Dc.1792A>GSubstitution - Missense
PRAMEF6ENSG00000232423ENST00000376182p.T382Ac.1144A>GSubstitution - Missense
S100A1ENSG00000160678ENST00000368698p.A61Ac.183G>ASubstitution - coding silent
ACP6ENSG00000162836ENST00000392988p.T164Nc.491C>ASubstitution - Missense
GPATCH4ENSG00000160818ENST00000438976p.E262Ec.786G>ASubstitution - coding silent
CEP152ENSG00000103995ENST00000380950p.P1243Ac.3727C>GSubstitution - Missense
CEP152ENSG00000103995ENST00000380950p.T1101Tc.3303A>CSubstitution - coding silent
PRRT2ENSG00000167371ENST00000567659p.D147Hc.439G>CSubstitution - Missense
MYO1CENSG00000197879ENST00000359786p.L609Lc.1825C>TSubstitution - coding silent
SLC5A10ENSG00000154025ENST00000317977p.M291Lc.871A>TSubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.Q91Qc.273G>ASubstitution - coding silent
SDK2ENSG00000069188ENST00000392650p.V1642Mc.4924G>ASubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.?c.2138+1G>AUnknown
FBXW9ENSG00000132004ENST00000380339p.?c.1327-8C>TUnknown
TSKSENSG00000126467ENST00000358830p.C355Wc.1065C>GSubstitution - Missense
MCM8ENSG00000125885ENST00000378886p.?c.254-7G>TUnknown
MCM8ENSG00000125885ENST00000378886p.?c.254-6G>TUnknown
AIFM3ENSG00000183773ENST00000335375p.F133Cc.398T>GSubstitution - Missense
ENST00000339254p.S265Sc.795T>GSubstitution - coding silent
KIAA1715ENSG00000144320ENST00000544803p.I325Tc.974T>CSubstitution - Missense
THNSL2ENSG00000144115ENST00000343544p.G53Gc.159C>ASubstitution - coding silent
SETMARENSG00000170364ENST00000430981p.R236*c.706C>TSubstitution - Nonsense
MUSKENSG00000030304ENST00000189978p.?c.1945+5_1945+6insAUnknown
MTUS1ENSG00000129422ENST00000381862p.R196delRc.585_587delGAGDeletion - In frame
KIAA1731ENSG00000166004ENST00000411936p.R2529Hc.7586G>ASubstitution - Missense
ENST00000378024_v70p.L801Lc.2401T>CSubstitution - coding silent
AGBL1ENSG00000166748ENST00000441037p.?c.1849+9G>TUnknown
SPAG9ENSG00000008294ENST00000505279p.F636Lc.1908T>GSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.T1563Mc.4688C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000367174p.T910Mc.2729C>TSubstitution - Missense
NUP153ENSG00000124789ENST00000537253p.S192Fc.575C>TSubstitution - Missense
MRS2ENSG00000124532ENST00000443868p.S72Tc.214T>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.D2206Dc.6618C>TSubstitution - coding silent
PLECENSG00000178209ENST00000356346p.D2192Dc.6576C>TSubstitution - coding silent
MTSS1ENSG00000170873ENST00000378017p.R615Wc.1843C>TSubstitution - Missense
FKBP15ENSG00000119321ENST00000414250p.?c.1248+10C>AUnknown
SMARCA2ENSG00000080503ENST00000417599p.?c.93+10C>TUnknown
ZCCHC7ENSG00000147905ENST00000322831p.R108Sc.324A>CSubstitution - Missense
GBA2ENSG00000070610ENST00000545786p.?c.567+7G>AUnknown
ENST00000314720_v70p.S133Sc.399A>GSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.V216Mc.646G>ASubstitution - Missense
CYFIP1ENSG00000068793ENST00000313077p.A1025Vc.3074C>TSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.A3483Tc.10447G>ASubstitution - Missense
FKBP15ENSG00000119321ENST00000446284p.?c.1248+10C>AUnknown
MUSKENSG00000030304ENST00000374448p.?c.1927+5_1927+6insAUnknown
MCM9ENSG00000111877ENST00000316316p.A900Ac.2700G>ASubstitution - coding silent
ZNF292ENSG00000188994ENST00000369577p.D382Gc.1145A>GSubstitution - Missense
TMEM132EENSG00000181291ENST00000321639p.P470Pc.1410C>TSubstitution - coding silent
ACACAENSG00000132142ENST00000353139p.?c.1662+7C>TUnknown
ACACAENSG00000132142ENST00000360679p.?c.1377+7C>TUnknown
TADA2AENSG00000108264ENST00000394395p.R412Kc.1235G>ASubstitution - Missense
GHDCENSG00000167925ENST00000414034p.R234Cc.700C>TSubstitution - Missense
PSMC3IPENSG00000131470ENST00000393795p.P192Pc.576C>ASubstitution - coding silent
PSMC3IPENSG00000131470ENST00000253789p.P180Pc.540C>ASubstitution - coding silent
BZRAP1ENSG00000005379ENST00000343736p.Q764Rc.2291A>GSubstitution - Missense
CD22ENSG00000012124ENST00000085219p.Q406*c.1216C>TSubstitution - Nonsense
WDR87ENSG00000171804ENST00000447313p.R2873Cc.8617C>TSubstitution - Missense
RFTN1ENSG00000131378ENST00000334133p.P261Pc.783G>ASubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.G2854Sc.8560G>ASubstitution - Missense
CYP2A13ENSG00000197838ENST00000330436p.T134_L135insTc.397_398insCCAInsertion - In frame
LTBP4ENSG00000090006ENST00000308370p.R1290Rc.3870G>TSubstitution - coding silent
SERTAD1ENSG00000197019ENST00000357949p.P62Pc.186G>ASubstitution - coding silent
ANLNENSG00000011426ENST00000265748p.R810Gc.2428C>GSubstitution - Missense
MYL7ENSG00000106631ENST00000223364p.A155Vc.464C>TSubstitution - Missense
TCEANCENSG00000176896ENST00000314720p.S103Sc.309A>GSubstitution - coding silent
CSAG1ENSG00000198930ENST00000370287p.V68Ic.202G>ASubstitution - Missense
BRD8ENSG00000112983ENST00000254900p.Q679Qc.2037G>ASubstitution - coding silent
BRD8ENSG00000112983ENST00000230901p.Q752Qc.2256G>ASubstitution - coding silent
OTTHUMT00000129563.1p.I272Mc.816C>GSubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.A484Vc.1451C>TSubstitution - Missense
ZNF300ENSG00000145908ENST00000394226p.G303Rc.907G>ASubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.E1230Gc.3689A>GSubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.E1230Gc.3689A>GSubstitution - Missense
HIST1H2BLENSG00000185130ENST00000377401p.0c.0Unknown
GABBR1ENSG00000204681ENST00000377034p.A575fs*2c.1714_1715insCInsertion - Frameshift
VARS2ENSG00000137411ENST00000321897p.S183Ac.547T>GSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.L34_L35insPLPLc.74_75ins12Insertion - In frame
METENSG00000105976ENST00000318493p.P1009Sc.3025C>TSubstitution - Missense
TMEM176AENSG00000002933ENST00000004103p.S156Sc.468G>CSubstitution - coding silent
ACTR3CENSG00000106526ENST00000252071p.G36Vc.107G>TSubstitution - Missense
ZNF777ENSG00000196453ENST00000247930p.P492Pc.1476C>TSubstitution - coding silent
CHPF2ENSG00000033100ENST00000035307p.A550Ac.1650G>ASubstitution - coding silent
ABCB8ENSG00000197150ENST00000358849p.V46Mc.136G>ASubstitution - Missense
OGDHENSG00000105953ENST00000222673p.G782Gc.2346C>TSubstitution - coding silent
OGDHENSG00000105953ENST00000543843p.G733Gc.2199C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.S3771Sc.11313G>ASubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.S2425Sc.7275C>TSubstitution - coding silent
RGS22ENSG00000132554ENST00000360863p.D757Dc.2271C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000406091p.L378Lc.1134G>CSubstitution - coding silent
RIMS2ENSG00000176406ENST00000436393p.L156Lc.468G>CSubstitution - coding silent
ENST00000402998p.L414Lc.1242G>CSubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.L186Lc.558G>CSubstitution - coding silent
DDX19AENSG00000168872ENST00000302243p.E380Ac.1139A>CSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.K3628Tc.10883A>CSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.I4105Lc.12313A>CSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.Y857Cc.2570A>GSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.Y857Cc.2570A>GSubstitution - Missense
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
ZSWIM4ENSG00000132003ENST00000254323p.R689Qc.2066G>ASubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.L437Vc.1309C>GSubstitution - Missense
PSG3ENSG00000221826ENST00000327495p.I109Lc.325A>CSubstitution - Missense
PSG6ENSG00000170848ENST00000292125p.V160Ac.479T>CSubstitution - Missense
ZNF224ENSG00000267680ENST00000336976p.Y428Fc.1283A>TSubstitution - Missense
ENST00000373263p.S449Sc.1347C>TSubstitution - coding silent
CACNB4ENSG00000182389ENST00000539935p.S264Sc.792T>GSubstitution - coding silent
CACNB4ENSG00000182389ENST00000534999p.S230Sc.690T>GSubstitution - coding silent
AASDHENSG00000157426ENST00000205214p.L96Lc.288A>GSubstitution - coding silent
TPTEENSG00000166157ENST00000361285p.N405Nc.1215C>TSubstitution - coding silent
PITPNBENSG00000180957ENST00000335272p.S262Sc.786C>TSubstitution - coding silent
POTEDENSG00000166351ENST00000299443p.P131Lc.392C>TSubstitution - Missense
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
DLG1ENSG00000075711ENST00000419354p.H776Qc.2328T>GSubstitution - Missense
TET2ENSG00000168769ENST00000380013p.L1965Lc.5893C>TSubstitution - coding silent
PURGENSG00000172733ENST00000475541p.E89*c.265G>TSubstitution - Nonsense
TEX15ENSG00000133863ENST00000256246p.C1037fs*47c.3108_3117del10Deletion - Frameshift
FGFR1ENSG00000077782ENST00000335922p.V350Ic.1048G>ASubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.V358Ic.1072G>ASubstitution - Missense
NM_152632.1p.G6Dc.17G>ASubstitution - Missense
ZNF667ENSG00000198046ENST00000342634p.?c.312+8G>TUnknown
NLRP5ENSG00000171487ENST00000390649p.P320Pc.960C>GSubstitution - coding silent
ZNF586ENSG00000083828ENST00000396154p.A65Tc.193G>ASubstitution - Missense
ENST00000284020p.Q419Pc.1256A>CSubstitution - Missense
ZNF544ENSG00000198131ENST00000269829p.S691fs*2c.2068_2069insGTAGInsertion - Frameshift
MAPK8IP2ENSG00000008735ENST00000008876p.?c.1527+4_1527+11delagtctgctUnknown
ZBTB47ENSG00000114853ENST00000232974p.C662Cc.1986C>TSubstitution - coding silent
CCDC112ENSG00000164221ENST00000379611p.?c.1333-4T>GUnknown
CNGB1ENSG00000070729ENST00000251102p.W538Gc.1612T>GSubstitution - Missense
NFATC3ENSG00000072736ENST00000346183p.H427Dc.1279C>GSubstitution - Missense
NFATC3ENSG00000072736ENST00000329524p.H427Dc.1279C>GSubstitution - Missense
ANKRD28ENSG00000206560ENST00000383777p.G1066Gc.3198G>ASubstitution - coding silent
ANKRD28ENSG00000206560ENST00000399451p.G500Gc.1500G>ASubstitution - coding silent
CDH18ENSG00000145526ENST00000507958p.I307Ic.921C>ASubstitution - coding silent
CDH18ENSG00000145526ENST00000382275p.I307Ic.921C>ASubstitution - coding silent
TIAM2ENSG00000146426ENST00000318981p.T1534Mc.4601C>TSubstitution - Missense
SLC22A2ENSG00000112499ENST00000366953p.N157Nc.471T>CSubstitution - coding silent
IHHENSG00000163501ENST00000295731p.L271Lc.813C>ASubstitution - coding silent
SPTBN1ENSG00000115306ENST00000356805p.A1984Ac.5952A>GSubstitution - coding silent
SPRED2ENSG00000198369ENST00000356388p.R323Qc.968G>ASubstitution - Missense
EFCAB12ENSG00000172771ENST00000505956p.P408Lc.1223C>TSubstitution - Missense
TUBGCP6ENSG00000128159ENST00000248846p.P1274Pc.3822G>ASubstitution - coding silent
MOV10L1ENSG00000073146ENST00000262794p.E939Dc.2817A>CSubstitution - Missense
MOV10L1ENSG00000073146ENST00000540615p.E919Dc.2757A>CSubstitution - Missense
CYP8B1ENSG00000180432ENST00000316161p.T179Kc.536C>ASubstitution - Missense
KLHL18ENSG00000114648ENST00000232766p.C505Yc.1514G>ASubstitution - Missense
DHX30ENSG00000132153ENST00000445061p.?c.2576-8C>TUnknown
ADCY2ENSG00000078295ENST00000338316p.A19Ac.57G>ASubstitution - coding silent
CUL7ENSG00000044090ENST00000265348p.P663Pc.1989G>ASubstitution - coding silent
MSNENSG00000147065ENST00000360270p.V33Mc.97G>ASubstitution - Missense
ZC3H12BENSG00000102053ENST00000338957p.V14Lc.40G>CSubstitution - Missense
ZNF296ENSG00000170684ENST00000303809p.R151Lc.452G>TSubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.?c.1703-4G>TUnknown
CRXENSG00000105392ENST00000221996p.N77Kc.231T>GSubstitution - Missense
MEIS3ENSG00000105419ENST00000561293p.G307Rc.919G>ASubstitution - Missense
TBC1D24ENSG00000162065ENST00000567020p.R518Wc.1552C>TSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.Y119Yc.357C>TSubstitution - coding silent
CD80ENSG00000121594ENST00000264246p.N183Dc.547A>GSubstitution - Missense
PRR23CENSG00000233701ENST00000413199p.P101Pc.303C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.?c.4811-1G>AUnknown
SHROOM1ENSG00000164403ENST00000319854p.R583Pc.1748G>CSubstitution - Missense
VCANENSG00000038427ENST00000265077p.A523Sc.1567G>TSubstitution - Missense
KDM5DENSG00000012817ENST00000317961p.T284Ac.850A>GSubstitution - Missense
PRDM1ENSG00000057657ENST00000369096p.Q634Rc.1901A>GSubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.R57Qc.170G>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.R957Wc.2869C>TSubstitution - Missense
DSTENSG00000151914ENST00000244364p.L861Lc.2583C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.L861Lc.2583C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.L1187Lc.3561C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.R1316Rc.3948C>TSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.R3868Cc.11602C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.S256Rc.768T>ASubstitution - Missense
FKBP15ENSG00000119321ENST00000238256p.?c.1173+10C>AUnknown
LAIR1ENSG00000167613ENST00000391742p.?c.35-4C>GUnknown
PHF20ENSG00000025293ENST00000374012p.Y38Yc.114C>TSubstitution - coding silent
SLC23A2ENSG00000089057ENST00000338244p.R265Rc.795A>GSubstitution - coding silent
SLC23A2ENSG00000089057ENST00000338244p.E264Ec.792G>ASubstitution - coding silent
MCM8ENSG00000125885ENST00000378896p.?c.254-7G>TUnknown
MCM8ENSG00000125885ENST00000265187p.?c.254-7G>TUnknown
RBM28ENSG00000106344ENST00000223073p.?c.1563+7C>TUnknown
PLXNA4ENSG00000221866ENST00000321063p.C675Fc.2024G>TSubstitution - Missense
CPA1ENSG00000091704ENST00000011292p.A137Gc.410C>GSubstitution - Missense
KCNV2ENSG00000168263ENST00000382082p.E73Qc.217G>CSubstitution - Missense
GBA2ENSG00000070610ENST00000378103p.?c.567+7G>AUnknown
GBA2ENSG00000070610ENST00000378094p.?c.567+7G>AUnknown
GLIS3ENSG00000107249ENST00000381971p.P270Pc.810A>TSubstitution - coding silent
ENST00000377290p.?c.200+3A>GUnknown
NUGGCENSG00000189233ENST00000413272p.P792Tc.2374C>ASubstitution - Missense
NUGGCENSG00000189233ENST00000341513p.P792Tc.2374C>ASubstitution - Missense
TAOK1ENSG00000160551ENST00000261716p.L218Lc.654A>GSubstitution - coding silent
ENST00000411702p.A4288Vc.12863C>TSubstitution - Missense
AP1M2ENSG00000129354ENST00000250244p.?c.268-5C>GUnknown
ATG4DENSG00000130734ENST00000309469p.Q449Ec.1345C>GSubstitution - Missense
ZNF20ENSG00000132010ENST00000334213p.T521Tc.1563T>GSubstitution - coding silent
ZNF20ENSG00000132010ENST00000334213p.T474Tc.1422T>GSubstitution - coding silent
ELAVL3ENSG00000196361ENST00000359227p.?c.230-4A>TUnknown
NM_032301.1p.?c.291-8C>TUnknown
NCAPHENSG00000121152ENST00000240423p.D80Vc.239A>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.I1159Vc.3475A>GSubstitution - Missense
ENST00000265403_v61p.Q486*c.1456C>TSubstitution - Nonsense
UGT2B10ENSG00000109181ENST00000265403p.Q486*c.1456C>TSubstitution - Nonsense
UGT2A3ENSG00000135220ENST00000251566p.Q331Qc.993G>ASubstitution - coding silent
ADAMTS3ENSG00000156140ENST00000286657p.E747Kc.2239G>ASubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.R94Rc.280C>ASubstitution - coding silent
WIPF2ENSG00000171475ENST00000323571p.P182fs*56c.541delCDeletion - Frameshift
ORMDL3ENSG00000172057ENST00000394169p.L28Lc.84G>TSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.?c.2728_2887+1445del1605Unknown
TIAM1ENSG00000156299ENST00000286827p.?c.2728_2887+1445del1605Unknown
NIPAL1ENSG00000163293ENST00000295461p.S84Cc.251C>GSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.T200Ic.599C>TSubstitution - Missense
PCBP4ENSG00000090097ENST00000461554p.?c.106-10C>TUnknown
NUP153ENSG00000124789ENST00000262077p.S192Fc.575C>TSubstitution - Missense
ENST00000377989p.T220Tc.660G>ASubstitution - coding silent
EPHB6ENSG00000106123ENST00000392957p.T245Tc.735G>ASubstitution - coding silent
PLECENSG00000178209ENST00000322810p.D2343Dc.7029C>TSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.D2233Dc.6699C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.D2206Dc.6618C>TSubstitution - coding silent
HNF4GENSG00000164749ENST00000396423p.G214Gc.642G>ASubstitution - coding silent
NM_004133.3p.G177Gc.531G>ASubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.N169Sc.506A>GSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.?c.2258-951_2524del2884Unknown
POTEHENSG00000198062ENST00000343518p.P168Lc.503C>TSubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.P201Lc.602C>TSubstitution - Missense
DIP2AENSG00000160305ENST00000427143p.P137Lc.410C>TSubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.P201Lc.602C>TSubstitution - Missense
CECR2ENSG00000099954ENST00000400585p.P1409Lc.4226C>TSubstitution - Missense
KIAA1715ENSG00000144320ENST00000272748p.I294Tc.881T>CSubstitution - Missense
TTC30BENSG00000196659ENST00000408939p.A375Vc.1124C>TSubstitution - Missense
AGXTENSG00000172482ENST00000307503p.I340Tc.1019T>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.Y689Yc.2067C>TSubstitution - coding silent
PRSS36ENSG00000178226ENST00000268281p.L792Lc.2374C>TSubstitution - coding silent
NLRC3ENSG00000167984ENST00000324659p.T103Tc.309C>TSubstitution - coding silent
FANCAENSG00000187741ENST00000389301p.T1279Kc.3836C>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.P1144Lc.3431C>TSubstitution - Missense
LILRB5ENSG00000105609ENST00000316219p.S485Sc.1455C>TSubstitution - coding silent
LILRB5ENSG00000105609ENST00000450632p.S477Sc.1431C>TSubstitution - coding silent
LILRB5ENSG00000105609ENST00000450632p.I85Tc.254T>CSubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.E372Gc.1115A>GSubstitution - Missense
CLK2ENSG00000176444ENST00000361168p.L308Ic.922C>ASubstitution - Missense
KLHL12ENSG00000117153ENST00000367261p.S55Ic.164G>TSubstitution - Missense
CEP152ENSG00000103995ENST00000399334p.T1101Tc.3303A>CSubstitution - coding silent
MFSD4ENSG00000174514ENST00000367147p.G214Wc.640G>TSubstitution - Missense
HDCENSG00000140287ENST00000267845p.A402Ac.1206C>GSubstitution - coding silent
MYO5CENSG00000128833ENST00000261839p.A120Tc.358G>ASubstitution - Missense
NM_004330.1p.V172Dc.515T>ASubstitution - Missense
TRIM49CENSG00000204449ENST00000448984p.Y341Cc.1022A>GSubstitution - Missense
KNTC1ENSG00000184445ENST00000333479p.D872Dc.2616T>CSubstitution - coding silent
KIAA1731ENSG00000166004ENST00000325212p.R2528Hc.7583G>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.R2528Hc.7583G>ASubstitution - Missense
PRAMEF6ENSG00000232423ENST00000376182p.N368Nc.1104C>TSubstitution - coding silent
OR2L3ENSG00000198128ENST00000359959p.K294*c.880A>TSubstitution - Nonsense
OMA1ENSG00000162600ENST00000371226p.R364*c.1090C>TSubstitution - Nonsense
KTN1ENSG00000126777ENST00000416613p.T631Ac.1891A>GSubstitution - Missense
ASB2ENSG00000100628ENST00000315988p.L140Fc.418C>TSubstitution - Missense
CDC7ENSG00000097046ENST00000234626p.E49Kc.145G>ASubstitution - Missense
LIG4ENSG00000174405ENST00000405925p.H862fs*2c.2585delADeletion - Frameshift
XPO4ENSG00000132953ENST00000255305p.?c.3259-920_3292del954Unknown
NM_022459.3p.?c.3178-920_3211del954Unknown
SCG5ENSG00000166922ENST00000300175p.H155Nc.463C>ASubstitution - Missense
ATP12AENSG00000075673ENST00000381946p.N592Dc.1774A>GSubstitution - Missense
AQRENSG00000021776ENST00000156471p.G501Gc.1503T>CSubstitution - coding silent
NIPBLENSG00000164190ENST00000282516p.G185Gc.555A>GSubstitution - coding silent
NIPBLENSG00000164190ENST00000448238p.G185Gc.555A>GSubstitution - coding silent
RICTORENSG00000164327ENST00000357387p.L1537Rc.4610T>GSubstitution - Missense
SPNS3ENSG00000182557ENST00000355530p.G125Gc.375C>TSubstitution - coding silent
MYCBPAPENSG00000136449ENST00000323776p.Q128Qc.384G>ASubstitution - coding silent
NM_032133.2p.Q91Qc.273G>ASubstitution - coding silent
COL1A1ENSG00000108821ENST00000225964p.P739Lc.2216C>TSubstitution - Missense
ITGA3ENSG00000005884ENST00000320031p.S742Sc.2226T>CSubstitution - coding silent
ITGA3ENSG00000005884ENST00000007722p.W953Lc.2858G>TSubstitution - Missense
COL1A1ENSG00000108821ENST00000225964p.D1344Nc.4030G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.R3906Rc.11718A>GSubstitution - coding silent
MYO1BENSG00000128641ENST00000392318p.V1029Vc.3087T>CSubstitution - coding silent
MYO1BENSG00000128641ENST00000339514p.V971Vc.2913T>CSubstitution - coding silent
COL5A2ENSG00000204262ENST00000374866p.R356Gc.1066C>GSubstitution - Missense
ADAM23ENSG00000114948ENST00000374416p.V392Mc.1174G>ASubstitution - Missense
UBE2V2ENSG00000169139ENST00000523111p.N87fs*2c.257delTDeletion - Frameshift
RRS1ENSG00000179041ENST00000320270p.P346Pc.1038G>ASubstitution - coding silent
PCP2ENSG00000174788ENST00000311069p.P132Lc.395C>TSubstitution - Missense
MBD3L1ENSG00000170948ENST00000305625p.T92Nc.275C>ASubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.I1521Mc.4563C>GSubstitution - Missense
WDR81ENSG00000167716ENST00000309182p.I470Mc.1410C>GSubstitution - Missense
WDR81ENSG00000167716ENST00000437219p.I318Mc.954C>GSubstitution - Missense
FLCNENSG00000154803ENST00000285071p.T270Tc.810C>TSubstitution - coding silent
SLC5A10ENSG00000154025ENST00000395647p.M374Lc.1120A>TSubstitution - Missense
SEC14L1ENSG00000129657ENST00000392476p.A328Ac.984G>ASubstitution - coding silent
PLEKHJ1ENSG00000104886ENST00000326631p.L115Vc.343C>GSubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.P473Tc.1417C>ASubstitution - Missense
ENST00000252622_v68p.Y18Cc.53A>GSubstitution - Missense
LSM7ENSG00000130332ENST00000252622p.Y18Cc.53A>GSubstitution - Missense
GPIENSG00000105220ENST00000356487p.?c.486+7A>GUnknown
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
C19orf40ENSG00000131944ENST00000254262p.A151Sc.451G>TSubstitution - Missense
TSKSENSG00000126467ENST00000246801p.C555Wc.1665C>GSubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.R785Qc.2354G>ASubstitution - Missense
ENST00000301415p.R744Qc.2231G>ASubstitution - Missense
ENST00000456956p.Y117Hc.349T>CSubstitution - Missense
C20orf112ENSG00000197183ENST00000326071p.Y117Hc.349T>CSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000339313p.L347Lc.1041G>CSubstitution - coding silent
ENST00000305812p.R112Mc.335G>TSubstitution - Missense
BPIFB1ENSG00000125999ENST00000253354p.?c.1255-6T>AUnknown
HNRNPUENSG00000153187ENST00000444376p.E260delEc.780_782delAGADeletion - In frame
AFAP1L2ENSG00000169129ENST00000304129p.H685Yc.2053C>TSubstitution - Missense
FAM204AENSG00000165669ENST00000369183p.R209Qc.626G>ASubstitution - Missense
SEC31BENSG00000075826ENST00000370345p.L276Lc.828G>TSubstitution - coding silent
INAENSG00000148798ENST00000369849p.A106Sc.316G>TSubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.A893Ac.2679C>GSubstitution - coding silent
SYCP3ENSG00000139351ENST00000392924p.?c.454-10A>CUnknown
NR1H4ENSG00000012504ENST00000548884p.S358Pc.1072T>CSubstitution - Missense
HDAC7ENSG00000061273ENST00000080059p.L982Lc.2946G>ASubstitution - coding silent
ATP8A2ENSG00000132932ENST00000381655p.Q800Hc.2400G>CSubstitution - Missense
CENPJENSG00000151849ENST00000381884p.Q311Kc.931C>ASubstitution - Missense
KIAA1522ENSG00000162522ENST00000373480p.A488Ac.1464A>GSubstitution - coding silent
ZBTB8OSENSG00000176261ENST00000468695p.A56Tc.166G>ASubstitution - Missense
OSCP1ENSG00000116885ENST00000356637p.?c.850-4G>AUnknown
TP73ENSG00000078900ENST00000378295p.Y389Cc.1166A>GSubstitution - Missense
TP73ENSG00000078900ENST00000378288p.Y340Cc.1019A>GSubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.G441Gc.1323C>TSubstitution - coding silent
ADAMTS8ENSG00000134917ENST00000257359p.G441Gc.1323C>TSubstitution - coding silent
ENST00000321016_v61p.G427Dc.1280G>ASubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.?c.2108+5G>CUnknown
TNNI2ENSG00000130598ENST00000381906p.D120Dc.360T>CSubstitution - coding silent
FRS2ENSG00000166225ENST00000299293p.E307Kc.919G>ASubstitution - Missense
FRS2ENSG00000166225ENST00000299293p.E307Kc.919G>ASubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.R1928Hc.5783G>ASubstitution - Missense
TRPC6ENSG00000137672ENST00000344327p.N712Ic.2135A>TSubstitution - Missense
NM_002426.1p.A13Vc.38C>TSubstitution - Missense
GSTM2ENSG00000213366ENST00000442650p.M1Ic.3G>ASubstitution - Missense
GSTM2ENSG00000213366ENST00000369831p.M1Ic.3G>ASubstitution - Missense
SORT1ENSG00000134243ENST00000256637p.G714Gc.2142G>ASubstitution - coding silent
KIAA1324ENSG00000116299ENST00000369939p.T715Tc.2145C>TSubstitution - coding silent
MASP2ENSG00000009724ENST00000400897p.K317Tc.950A>CSubstitution - Missense
TXNIPENSG00000117289ENST00000369317p.?c.251-175_695>TUnknown
HAGHENSG00000063854ENST00000397356p.R210Pc.629G>CSubstitution - Missense
GPR139ENSG00000180269ENST00000570682p.A255Ac.765G>ASubstitution - coding silent
PROX2ENSG00000119608ENST00000445876p.S47Nc.140G>ASubstitution - Missense
RGMAENSG00000182175ENST00000557301p.T69Rc.206C>GSubstitution - Missense
CCDC154ENSG00000197599ENST00000389176p.L466Lc.1398G>ASubstitution - coding silent
ENST00000398860p.?c.7069+6T>CUnknown
PALD1ENSG00000107719ENST00000263563p.H31Hc.93C>TSubstitution - coding silent
SLC22A8ENSG00000149452ENST00000336232p.I175Vc.523A>GSubstitution - Missense
SLC3A2ENSG00000168003ENST00000377892p.?c.1_112+694del806Unknown
CNGA4ENSG00000132259ENST00000379936p.A546Pc.1636G>CSubstitution - Missense
FERMT3ENSG00000149781ENST00000279227p.M559Vc.1675A>GSubstitution - Missense
FERMT3ENSG00000149781ENST00000345728p.M555Vc.1663A>GSubstitution - Missense
ARFIP2ENSG00000132254ENST00000396777p.?c.695+3G>AUnknown
CGP_EPHA10.1p.V579Ic.1735G>ASubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.V3884Vc.11652C>TSubstitution - coding silent
FIBPENSG00000172500ENST00000338369p.V335Lc.1003G>CSubstitution - Missense
COL9A2ENSG00000049089ENST00000372748p.G328Rc.982G>ASubstitution - Missense
SCMH1ENSG00000010803ENST00000402904p.A397Tc.1189G>ASubstitution - Missense
SCMH1ENSG00000010803ENST00000337495p.A407Tc.1219G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.F1733Fc.5199C>TSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.F1733Fc.5199C>TSubstitution - coding silent
HIPK1ENSG00000163349ENST00000369558p.T1113Mc.3338C>TSubstitution - Missense
CLCN6ENSG00000011021ENST00000346436p.V197Mc.589G>ASubstitution - Missense
ILDR2ENSG00000143195ENST00000271417p.R101Lc.302G>TSubstitution - Missense
EHD4ENSG00000103966ENST00000220325p.I461Fc.1381A>TSubstitution - Missense
TP53BP1ENSG00000067369ENST00000263801p.R1578Tc.4733G>CSubstitution - Missense
SQRDLENSG00000137767ENST00000260324p.?c.1240_1295+402del458Unknown
NPAS3ENSG00000151322ENST00000341321p.P250Ac.748C>GSubstitution - Missense
NM_006575p.T42Ic.125C>TSubstitution - Missense
ARNTL2ENSG00000029153ENST00000266503p.Y312Cc.935A>GSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.?c.5370+4C>GUnknown
S100A1ENSG00000160678ENST00000292169p.A8Ac.24G>ASubstitution - coding silent
ENST00000414315p.V84Mc.250G>ASubstitution - Missense
ENST00000545858p.V123Mc.367G>ASubstitution - Missense
NPY4RENSG00000204174ENST00000395716p.R240Hc.719G>ASubstitution - Missense
TAGAPENSG00000164691ENST00000367066p.R567Cc.1699C>TSubstitution - Missense
RNF41ENSG00000181852ENST00000345093p.S104Sc.312C>TSubstitution - coding silent
ATF7ENSG00000170653ENST00000548446p.S481Sc.1443G>ASubstitution - coding silent
HGFENSG00000019991ENST00000222390p.D543Yc.1627G>TSubstitution - Missense
CDH4ENSG00000179242ENST00000360469p.N884Nc.2652C>TSubstitution - coding silent
MTSS1ENSG00000170873ENST00000518547p.R640Wc.1918C>TSubstitution - Missense
KIAA0319LENSG00000142687ENST00000325722p.K547Kc.1641A>GSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.R90*c.268C>TSubstitution - Nonsense
EPYCENSG00000083782ENST00000261172p.A146Tc.436G>ASubstitution - Missense
RFX4ENSG00000111783ENST00000392842p.F434Fc.1302C>TSubstitution - coding silent
RFX4ENSG00000111783ENST00000229387p.F340Fc.1020C>TSubstitution - coding silent
ZNF507ENSG00000168813ENST00000355898p.L557Fc.1669C>TSubstitution - Missense
CT47B1ENSG00000236446ENST00000371311p.A81Ac.243C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000406091p.S423Sc.1269T>CSubstitution - coding silent
RPE65ENSG00000116745ENST00000262340p.G75Ec.224G>ASubstitution - Missense
GSPT1ENSG00000103342ENST00000434724p.N433Sc.1298A>GSubstitution - Missense
IKBKEENSG00000143466ENST00000367120p.V528Vc.1584G>ASubstitution - coding silent
C4BPAENSG00000123838ENST00000367070p.R153Hc.458G>ASubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.R1115Rc.3345C>ASubstitution - coding silent
C12orf10ENSG00000139637ENST00000267103p.V292Vc.876T>CSubstitution - coding silent
ENST00000326184p.T322Tc.966T>GSubstitution - coding silent
PCDH17ENSG00000118946ENST00000377918p.E1137Dc.3411A>TSubstitution - Missense
ENSG00000180574ENST00000322446p.V245Vc.735A>GSubstitution - coding silent
TCHPENSG00000139437ENST00000312777p.R486Wc.1456C>TSubstitution - Missense
CUL2ENSG00000108094ENST00000374751p.A583Ac.1749A>CSubstitution - coding silent
NM_002221p.R116Wc.346C>TSubstitution - Missense
PYCR2ENSG00000143811ENST00000343818p.I203Vc.607A>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.I217Ic.651C>ASubstitution - coding silent
HTR7ENSG00000148680ENST00000336152p.A62Ac.186G>TSubstitution - coding silent
HTR7ENSG00000148680ENST00000371721p.A62Ac.186G>TSubstitution - coding silent
ROBO3ENSG00000154134ENST00000397801p.P1240fs*78c.3715_3722delACTCCCCCDeletion - Frameshift
PTPMT1ENSG00000110536ENST00000326674p.R57Hc.170G>ASubstitution - Missense
PTPMT1ENSG00000110536ENST00000326674p.R57Rc.171C>ASubstitution - coding silent
GPATCH4ENSG00000160818ENST00000368232p.E257Ec.771G>ASubstitution - coding silent
BCANENSG00000132692ENST00000329117p.R86Gc.256C>GSubstitution - Missense
OR10X1ENSG00000186400ENST00000368150p.T65Pc.193A>CSubstitution - Missense
NACAENSG00000196531ENST00000454682p.P1134Lc.3401C>TSubstitution - Missense
NACAENSG00000196531ENST00000454682p.P1111Lc.3332C>TSubstitution - Missense
STAT6ENSG00000166888ENST00000300134p.A843Ac.2529C>ASubstitution - coding silent
STAT6ENSG00000166888ENST00000300134p.C747Rc.2239T>CSubstitution - Missense
NCAPD2ENSG00000010292ENST00000315579p.R1213Qc.3638G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.H2941Qc.8823C>GSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.H3224Qc.9672C>GSubstitution - Missense
DIP2BENSG00000066084ENST00000301180p.D827Dc.2481C>TSubstitution - coding silent
AGBL1ENSG00000166748ENST00000421325p.?c.1849+9G>TUnknown
KIF7ENSG00000166813ENST00000394412p.S857Rc.2571C>GSubstitution - Missense
FANCIENSG00000140525ENST00000310775p.D876Gc.2627A>GSubstitution - Missense
DGAT2ENSG00000062282ENST00000228027p.G231Vc.692G>TSubstitution - Missense
USP35ENSG00000118369ENST00000529308p.?c.1038+10C>AUnknown
TENM4ENSG00000149256ENST00000278550p.L600Lc.1800C>ASubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.L600Lc.1800C>ASubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.S1872Tc.5615G>CSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.S1872Tc.5615G>CSubstitution - Missense
ZNF839ENSG00000022976ENST00000442396p.S696Pc.2086T>CSubstitution - Missense
KIF26AENSG00000066735ENST00000423312p.R1440Rc.4320G>TSubstitution - coding silent
OR11H12ENSG00000257115ENST00000550708p.G58Vc.173G>TSubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.G766Cc.2296G>TSubstitution - Missense
NDUFV1ENSG00000167792ENST00000322776p.?c.326+10T>GUnknown
FGD6ENSG00000180263ENST00000343958p.K1187Nc.3561G>TSubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.L1202Lc.3604T>CSubstitution - coding silent
HNRNPUENSG00000153187ENST00000283179p.E279delEc.837_839delAGADeletion - In frame


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