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

ETK-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

973 mutations reported
393 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
ALDH1L1ENSG00000144908ENST00000393434p.W136*c.408G>ASubstitution - Nonsense
ZNF764ENSG00000169951ENST00000252797p.R159Hc.476G>ASubstitution - Missense
NM_139238.1p.E133Kc.397G>ASubstitution - Missense
NKAIN2ENSG00000188580ENST00000368417p.G2Gc.6T>GSubstitution - coding silent
BRCA1ENSG00000012048ENST00000471181p.V271Mc.811G>ASubstitution - Missense
SLC4A1ENSG00000004939ENST00000262418p.L247Lc.741G>TSubstitution - coding silent
ENST00000229606p.S237Sc.711C>GSubstitution - coding silent
LRRC31ENSG00000114248ENST00000316428p.L337Pc.1010T>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
SPEF1ENSG00000101222ENST00000379756p.P170Ac.508C>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T1907Tc.5721G>ASubstitution - coding silent
FLGENSG00000143631ENST00000368799p.E1757Gc.5270A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.L3346Lc.10038C>TSubstitution - coding silent
UNC5AENSG00000113763ENST00000329542p.Y569Yc.1707C>TSubstitution - coding silent
POU5F1BENSG00000212993ENST00000465342p.E98Gc.293A>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R175Hc.524G>ASubstitution - Missense
OR8K3ENSG00000181689ENST00000312711p.V134Lc.400G>TSubstitution - Missense
SRSF11ENSG00000116754ENST00000454435p.E47Qc.139G>CSubstitution - Missense
ADARENSG00000160710ENST00000292205p.?c.3149-9C>GUnknown
C20orf85ENSG00000124237ENST00000371168p.S31Sc.93G>ASubstitution - coding silent
PI4K2BENSG00000038210ENST00000264864p.R292Kc.875G>ASubstitution - Missense
TIRAPENSG00000150455ENST00000392678p.R143Qc.428G>ASubstitution - Missense
ENST00000368577p.P456Pc.1368C>ASubstitution - coding silent
CDK17ENSG00000059758ENST00000261211p.?c.1457-8C>TUnknown
SMAD9ENSG00000120693ENST00000379826p.S12delSc.35_37delCCTDeletion - In frame
NELL2ENSG00000184613ENST00000429094p.A537Ac.1611C>TSubstitution - coding silent
TACC2ENSG00000138162ENST00000369005p.P212Lc.635C>TSubstitution - Missense
NM_001002762.1p.R286Qc.857G>ASubstitution - Missense
TAF1DENSG00000166012ENST00000323981p.S4Lc.11C>TSubstitution - Missense
CDC16ENSG00000130177ENST00000360383p.N100Sc.299A>GSubstitution - Missense
KARSENSG00000065427ENST00000302445p.?c.62+10G>TUnknown
MYO1BENSG00000128641ENST00000392318p.L699Lc.2097G>CSubstitution - coding silent
RANBP3ENSG00000031823ENST00000340578p.A525Ac.1575G>ASubstitution - coding silent
ENSG00000178404ENST00000322630p.H216Yc.646C>TSubstitution - Missense
PLEKHF1ENSG00000166289ENST00000436066p.K106Rc.317A>GSubstitution - Missense
SCARA5ENSG00000168079ENST00000354914p.?c.242-4G>AUnknown
SLC7A2ENSG00000003989ENST00000470360p.L449Fc.1345C>TSubstitution - Missense
ABI3BPENSG00000154175ENST00000284322p.N691Hc.2071A>CSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.K432Mc.1295A>TSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.I1490Vc.4468A>GSubstitution - Missense
ENST00000405167p.V3123Vc.9369C>TSubstitution - coding silent
USP40ENSG00000085982ENST00000450966p.T713Tc.2139G>ASubstitution - coding silent
ZNF804BENSG00000182348ENST00000333190p.E500Qc.1498G>CSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.T238Ic.713C>TSubstitution - Missense
KCNH4ENSG00000089558ENST00000264661p.C446Cc.1338T>CSubstitution - coding silent
ANKFY1ENSG00000185722ENST00000574367p.E866Kc.2596G>ASubstitution - Missense
ZBBXENSG00000169064ENST00000392766p.K369Nc.1107A>TSubstitution - Missense
MECOMENSG00000085276ENST00000264674p.D452Gc.1355A>GSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.L2678Qc.8033T>ASubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
CPN2ENSG00000178772ENST00000323830p.R541Rc.1623G>ASubstitution - coding silent
FAM129BENSG00000136830ENST00000373314p.N61Sc.182A>GSubstitution - Missense
ANO1ENSG00000131620ENST00000316296p.T594Tc.1782C>TSubstitution - coding silent
OR51V1ENSG00000176742ENST00000321255p.T146Tc.438T>CSubstitution - coding silent
CDK17ENSG00000059758ENST00000543119p.?c.1457-8C>TUnknown
STK40ENSG00000196182ENST00000373130p.H420Hc.1260C>TSubstitution - coding silent
RGS12ENSG00000159788ENST00000306648p.?c.1302-8C>AUnknown
CEP290ENSG00000198707ENST00000552810p.R168Hc.503G>ASubstitution - Missense
KIF1BENSG00000054523ENST00000377093p.V370Ec.1109T>ASubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.A585Vc.1754C>TSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.G2387Dc.7160G>ASubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.S1941Gc.5821A>GSubstitution - Missense
MEGF6ENSG00000162591ENST00000356575p.W114Gc.340T>GSubstitution - Missense
OLFML3ENSG00000116774ENST00000369551p.R270Qc.809G>ASubstitution - Missense
NM_006312.2p.G1265Sc.3793G>ASubstitution - Missense
RASAL2ENSG00000075391ENST00000367649p.N682Sc.2045A>GSubstitution - Missense
DUSP16ENSG00000111266ENST00000228862p.?c.229-7A>CUnknown
PCSK6ENSG00000140479ENST00000344273p.A459Ac.1377G>ASubstitution - coding silent
RPA2ENSG00000117748ENST00000373912p.I183Mc.549C>GSubstitution - Missense
MYO1BENSG00000128641ENST00000339514p.L699Lc.2097G>CSubstitution - coding silent
ENST00000305326p.I38Mc.114C>GSubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.T1677Tc.5031G>ASubstitution - coding silent
TLN1ENSG00000137076ENST00000314888p.S290Tc.869G>CSubstitution - Missense
SLC19A1ENSG00000173638ENST00000311124p.A407Vc.1220C>TSubstitution - Missense
ABHD14AENSG00000248487ENST00000273596p.N67Sc.200A>GSubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.G282Rc.844G>ASubstitution - Missense
NM_005689.1p.Y599Cc.1796A>GSubstitution - Missense
HOXA3ENSG00000105997ENST00000396352p.Y33*c.99C>ASubstitution - Nonsense
SAP130ENSG00000136715ENST00000259235p.S665Sc.1995G>ASubstitution - coding silent
MAML3ENSG00000196782ENST00000509479p.G1111Rc.3331G>CSubstitution - Missense
SLC46A2ENSG00000119457ENST00000374228p.?c.1129+2T>CUnknown
MECOMENSG00000085276ENST00000392736p.D387Gc.1160A>GSubstitution - Missense
ABCF1ENSG00000204574ENST00000326195p.A133Vc.398C>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.Q8267Kc.24799C>ASubstitution - Missense
XPO5ENSG00000124571ENST00000265351p.V406Vc.1218C>GSubstitution - coding silent
ANKDD1AENSG00000166839ENST00000496660p.L6Lc.18G>ASubstitution - coding silent
ISY1ENSG00000240682ENST00000273541p.G51Gc.153A>CSubstitution - coding silent
IP6K3ENSG00000161896ENST00000451316p.A240Vc.719C>TSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.F1874Fc.5622C>TSubstitution - coding silent
WDR73ENSG00000177082ENST00000434634p.?c.884-8A>GUnknown
SFXN2ENSG00000156398ENST00000369893p.K25Nc.75G>CSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.D588Dc.1764T>CSubstitution - coding silent
SORCS1ENSG00000108018ENST00000344440p.H654Yc.1960C>TSubstitution - Missense
GABRA5ENSG00000186297ENST00000335625p.S88Sc.264C>TSubstitution - coding silent
IGF1RENSG00000140443ENST00000268035p.P233Pc.699C>TSubstitution - coding silent
DDX55ENSG00000111364ENST00000238146p.A401Vc.1202C>TSubstitution - Missense
ACOT7ENSG00000097021ENST00000377855p.A37Tc.109G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.I1720Mc.5160T>GSubstitution - Missense
TSPYL5ENSG00000180543ENST00000322128p.G333Gc.999G>CSubstitution - coding silent
LOXHD1ENSG00000167210ENST00000398722p.T1021Mc.3062C>TSubstitution - Missense
ZNF17ENSG00000186272ENST00000307658p.I598delIc.1792_1794delATTDeletion - In frame
SHOX2ENSG00000168779ENST00000425436p.A320Ac.960C>GSubstitution - coding silent
USP40ENSG00000085982ENST00000450966p.T713Tc.2139G>ASubstitution - coding silent
MRPL2ENSG00000112651ENST00000388752p.N221Hc.661A>CSubstitution - Missense
NEK11ENSG00000114670ENST00000429253p.S239Sc.717C>TSubstitution - coding silent
IL3ENSG00000164399ENST00000296870p.H117Hc.351T>CSubstitution - coding silent
TEX14ENSG00000121101ENST00000240361p.F578Ic.1732T>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
RASSF4ENSG00000107551ENST00000334940p.V273Mc.817G>ASubstitution - Missense
SLC12A8ENSG00000221955ENST00000430155p.L400Lc.1200G>ASubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.R1515Cc.4543C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.I7421Vc.22261A>GSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.T2153Mc.6458C>TSubstitution - Missense
CD248ENSG00000174807ENST00000311330p.S443delSc.1326_1328delCTCDeletion - In frame
OR4M1ENSG00000176299ENST00000315957p.V250Vc.750G>CSubstitution - coding silent
ENST00000333941p.A58_T59insAc.174_175insGCCInsertion - In frame
KRTAP5-10ENSG00000204572ENST00000398531p.C200Gc.598T>GSubstitution - Missense
TARS2ENSG00000143374ENST00000369064p.Q241Rc.722A>GSubstitution - Missense
MSI1ENSG00000135097ENST00000257552p.Y205Yc.615C>TSubstitution - coding silent
MMP27ENSG00000137675ENST00000260229p.S16Yc.47C>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.I1889Vc.5665A>GSubstitution - Missense
HECTD1ENSG00000092148ENST00000399332p.E1692Qc.5074G>CSubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.G1703Gc.5109G>ASubstitution - coding silent
SLC35F4ENSG00000151812ENST00000339762p.I383Ic.1149C>TSubstitution - coding silent
DOCK7ENSG00000116641ENST00000340370p.A883Ac.2649G>ASubstitution - coding silent
SU_WNK2p.T1626Tc.4878G>ASubstitution - coding silent
SLC6A16ENSG00000063127ENST00000335875p.W175Lc.524G>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.?c.1658-8C>TUnknown
FBXO16ENSG00000214050ENST00000380254p.C73Yc.218G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.I14278Ic.42834T>CSubstitution - coding silent
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
ABI3BPENSG00000154175ENST00000284322p.?c.1810+2T>CUnknown
DHX36ENSG00000174953ENST00000496811p.K597Kc.1791A>GSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000466387p.A586Ac.1758T>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.L3203Lc.9609C>TSubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.E133Kc.397G>ASubstitution - Missense
ENST00000393911p.A149Ec.446C>ASubstitution - Missense
SLC2A12ENSG00000146411ENST00000275230p.D273Hc.817G>CSubstitution - Missense
CREB3L3ENSG00000060566ENST00000078445p.A257Ac.771G>CSubstitution - coding silent
GLI3ENSG00000106571ENST00000395925p.D275Dc.825T>CSubstitution - coding silent
SGK2ENSG00000101049ENST00000341458p.Q137Qc.411G>ASubstitution - coding silent
ELMO1ENSG00000155849ENST00000310758p.V365Vc.1095C>GSubstitution - coding silent
ELMO1ENSG00000155849ENST00000310758p.?c.1087-2A>GUnknown
OTOAENSG00000155719ENST00000388957p.T461Pc.1381A>CSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.L553Mc.1657C>ASubstitution - Missense
CPN2ENSG00000178772ENST00000323830p.L2Lc.6C>TSubstitution - coding silent
CHRDENSG00000090539ENST00000204604p.R832Wc.2494C>TSubstitution - Missense
SKIV2LENSG00000204351ENST00000375394p.?c.2341-2A>CUnknown
OTOAENSG00000155719ENST00000286149p.T799Pc.2395A>CSubstitution - Missense
RGS12ENSG00000159788ENST00000338806p.?c.1164-8C>AUnknown
EPHA7ENSG00000135333ENST00000369303p.Q464Qc.1392G>ASubstitution - coding silent
WNK2ENSG00000165238ENST00000395477p.T1640Tc.4920G>ASubstitution - coding silent
SCARA5ENSG00000168079ENST00000524352p.?c.242-4G>AUnknown
OR6P1ENSG00000186440ENST00000334632p.I228Ic.684C>TSubstitution - coding silent
MORN1ENSG00000116151ENST00000378531p.R161Wc.481C>TSubstitution - Missense
VENTXENSG00000151650ENST00000325980p.R104Hc.311G>ASubstitution - Missense
DNAJB12ENSG00000148719ENST00000338820p.R320Qc.959G>ASubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.S387Tc.1159T>ASubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.P1679Tc.5035C>ASubstitution - Missense
ENST00000339762_v65p.I383Ic.1149C>TSubstitution - coding silent
ZSCAN30ENSG00000186814ENST00000333206p.E39Ec.117A>GSubstitution - coding silent
ZNF625ENSG00000257591ENST00000355738p.L5Fc.13C>TSubstitution - Missense
NUP54ENSG00000138750ENST00000264883p.P160Lc.479C>TSubstitution - Missense
IMPA2ENSG00000141401ENST00000269159p.?c.751+8C>GUnknown
TNK2ENSG00000061938ENST00000333602p.R544Qc.1631G>ASubstitution - Missense
CPZENSG00000109625ENST00000360986p.V72Vc.216G>ASubstitution - coding silent
OR5K4ENSG00000196098ENST00000354924p.L63Pc.188T>CSubstitution - Missense
C7orf31ENSG00000153790ENST00000283905p.I400Lc.1198A>TSubstitution - Missense
TFENSG00000091513ENST00000402696p.K489Kc.1467G>ASubstitution - coding silent
CDC40ENSG00000168438ENST00000368932p.E126Qc.376G>CSubstitution - Missense
LGI2ENSG00000153012ENST00000382114p.T374Mc.1121C>TSubstitution - Missense
BRCA1ENSG00000012048ENST00000357654p.V271Mc.811G>ASubstitution - Missense
ANKFY1ENSG00000185722ENST00000574367p.?c.2601+7G>AUnknown
NEBENSG00000183091ENST00000409198p.Q6411Kc.19231C>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.I7175Ic.21525C>TSubstitution - coding silent
GPATCH4ENSG00000160818ENST00000438976p.G295Ec.884G>ASubstitution - Missense
NFASCENSG00000163531ENST00000367172p.N483Nc.1449C>TSubstitution - coding silent
ENST00000368933p.E126Qc.376G>CSubstitution - Missense
SYTL3ENSG00000164674ENST00000297239p.C258Rc.772T>CSubstitution - Missense
TEX11ENSG00000120498ENST00000395889p.I811Lc.2431A>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R175Hc.524G>ASubstitution - Missense
ECE1ENSG00000117298ENST00000374893p.F451Fc.1353T>CSubstitution - coding silent
ZFYVE27ENSG00000155256ENST00000356257p.P70Ac.208C>GSubstitution - Missense
CD27ENSG00000139193ENST00000266557p.?c.448+4A>CUnknown
LRRC32ENSG00000137507ENST00000260061p.L636Qc.1907T>ASubstitution - Missense
DET1ENSG00000140543ENST00000564406p.S422Lc.1265C>TSubstitution - Missense
SLC17A8ENSG00000179520ENST00000323346p.F6Lc.18T>GSubstitution - Missense
TCF7L2ENSG00000148737ENST00000369397p.P497Pc.1491T>GSubstitution - coding silent
ACTR1AENSG00000138107ENST00000369905p.V157Vc.471G>ASubstitution - coding silent
AHCTF1ENSG00000153207ENST00000391829p.T1559Sc.4676C>GSubstitution - Missense
COL13A1ENSG00000197467ENST00000398969p.G587Gc.1761A>GSubstitution - coding silent
DLSTENSG00000119689ENST00000334220p.?c.199+2_199+3insTUnknown
ANGPTL7ENSG00000171819ENST00000376819p.G168Gc.504C>TSubstitution - coding silent
CCDC175ENSG00000151838ENST00000281581p.A316Ac.948G>ASubstitution - coding silent
ZNF726ENSG00000213967ENST00000322487p.S459Sc.1377T>CSubstitution - coding silent
CNTFRENSG00000122756ENST00000351266p.W226*c.677G>ASubstitution - Nonsense
GEMIN4ENSG00000179409ENST00000319004p.Q1032Qc.3096G>ASubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.Q273Qc.819G>ASubstitution - coding silent
GSDMDENSG00000104518ENST00000262580p.E434Kc.1300G>ASubstitution - Missense
NM_003319p.I7781Ic.23343T>CSubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000391728p.W34Rc.100T>CSubstitution - Missense
DYMENSG00000141627ENST00000269445p.?c.620+1G>AUnknown
GPC1ENSG00000063660ENST00000264039p.?c.717+4C>TUnknown
FERENSG00000151422ENST00000281092p.?c.1714-10C>TUnknown
PCDH18ENSG00000189184ENST00000344876p.F285Fc.855C>TSubstitution - coding silent
TEX14ENSG00000121101ENST00000349033p.F572Ic.1714T>ASubstitution - Missense
UPP2ENSG00000007001ENST00000005756p.D227Gc.680A>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.I5474Ic.16422C>TSubstitution - coding silent
CYP21A2ENSG00000231852ENST00000418967p.E247fs*11c.740delADeletion - Frameshift
ASTN2ENSG00000148219ENST00000361209p.R621Qc.1862G>ASubstitution - Missense
RPA2ENSG00000117748ENST00000373909p.I191Mc.573C>GSubstitution - Missense
MORN1ENSG00000116151ENST00000449373p.S111Sc.333C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.I7738Vc.23212A>GSubstitution - Missense
DPF3ENSG00000205683ENST00000541685p.D195Nc.583G>ASubstitution - Missense
C1orf65ENSG00000178395ENST00000366875p.A364Ac.1092G>ASubstitution - coding silent
RASSF4ENSG00000107551ENST00000340258p.V264Mc.790G>ASubstitution - Missense
EML3ENSG00000149499ENST00000394773p.S388Sc.1164G>ASubstitution - coding silent
CHPT1ENSG00000111666ENST00000229266p.A150Dc.449C>ASubstitution - Missense
HPS5ENSG00000110756ENST00000349215p.A863fs*25c.2587_2591delGCTCTDeletion - Frameshift
EXPH5ENSG00000110723ENST00000265843p.K46Kc.138G>ASubstitution - coding silent
ANO5ENSG00000171714ENST00000324559p.E333Kc.997G>ASubstitution - Missense
NFASCENSG00000163531ENST00000339876p.N483Nc.1449C>TSubstitution - coding silent
HELZENSG00000198265ENST00000358691p.T516Tc.1548A>GSubstitution - coding silent
ENST00000380014p.A154Vc.461C>TSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.P863Sc.2587C>TSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.L2843Lc.8529G>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.?c.60626-6T>CUnknown
ENST00000356127p.?c.60620-6T>CUnknown
FADS6ENSG00000172782ENST00000310226p.V144Mc.430G>ASubstitution - Missense
CCNB3ENSG00000147082ENST00000376042p.I1110Lc.3328A>CSubstitution - Missense
IQCEENSG00000106012ENST00000402050p.R559Rc.1677G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.I7809Vc.23425A>GSubstitution - Missense
SLC23A3ENSG00000213901ENST00000455516p.R132Gc.394C>GSubstitution - Missense
FBXO36ENSG00000153832ENST00000283946p.?c.1_69del69Unknown
KIAA0556ENSG00000047578ENST00000261588p.M311Tc.932T>CSubstitution - Missense
ZNF28ENSG00000198538ENST00000339844p.?c.4-3C>AUnknown
BRCA1ENSG00000012048ENST00000357654p.?c.671-8A>GUnknown
ENST00000229606p.R238Wc.712A>TSubstitution - Missense
SLC4A9ENSG00000113073ENST00000230993p.Y841Yc.2523T>CSubstitution - coding silent
OR7C2ENSG00000127529ENST00000248072p.F73Fc.219C>TSubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.A2704Ac.8112G>ASubstitution - coding silent
POU5F1BENSG00000212993ENST00000465342p.E98Gc.293A>GSubstitution - Missense
OR4A5ENSG00000221840ENST00000319760p.R2Gc.4A>GSubstitution - Missense
OR5T1ENSG00000181698ENST00000313033p.N324Yc.970A>TSubstitution - Missense
OR5AR1ENSG00000172459ENST00000302969p.Y60Hc.178T>CSubstitution - Missense
AKR1C1ENSG00000187134ENST00000380859p.?c.1_91-3del2108Unknown
GABRR2ENSG00000111886ENST00000402938p.S262Sc.786C>GSubstitution - coding silent
ZNF165ENSG00000197279ENST00000377325p.R392*c.1174C>TSubstitution - Nonsense
KRT86ENSG00000170442ENST00000293525p.R316Sc.946C>ASubstitution - Missense
ENST00000368577p.L1009Vc.3025C>GSubstitution - Missense
C1orf101ENSG00000179397ENST00000366534p.A889Ac.2667T>CSubstitution - coding silent
PRB4ENSG00000230657ENST00000279575p.P198Pc.594A>CSubstitution - coding silent
UBE2Q1ENSG00000160714ENST00000292211p.E193delEc.577_579delGAGDeletion - In frame
CYP4A22ENSG00000162365ENST00000371891p.L245Mc.733C>ASubstitution - Missense
PHF6ENSG00000156531ENST00000370803p.M81Ic.243G>ASubstitution - Missense
SRSF2ENSG00000161547ENST00000359995p.R147Lc.440G>TSubstitution - Missense
DMRT3ENSG00000064218ENST00000417254p.A88Vc.263C>TSubstitution - Missense
WNT16ENSG00000002745ENST00000222462p.I70Ic.210C>TSubstitution - coding silent
ENST00000436173p.R2201delRc.6593_6595delGGCDeletion - In frame
MX2ENSG00000183486ENST00000330714p.S619Sc.1857G>ASubstitution - coding silent
SCRIBENSG00000180900ENST00000356994p.Q1163Ec.3487C>GSubstitution - Missense
PLECENSG00000178209ENST00000322810p.E4264Kc.12790G>ASubstitution - Missense
ADH6ENSG00000172955ENST00000237653p.S83fs*3c.249delCDeletion - Frameshift
TNK2ENSG00000061938ENST00000381916p.R622Qc.1865G>ASubstitution - Missense
ENST00000272666p.P1159Rc.3476C>GSubstitution - Missense
XPO6ENSG00000169180ENST00000304658p.A709Vc.2126C>TSubstitution - Missense
VGLL2ENSG00000170162ENST00000326274p.P115Ac.343C>GSubstitution - Missense
OR13C9ENSG00000136839ENST00000259362p.P311Pc.933G>ASubstitution - coding silent
GOLIM4ENSG00000173905ENST00000470487p.R327Hc.980G>ASubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.E187Kc.559G>ASubstitution - Missense
ECT2ENSG00000114346ENST00000427830p.G75Sc.223G>ASubstitution - Missense
CHAF1AENSG00000167670ENST00000301280p.S280Tc.838T>ASubstitution - Missense
F9ENSG00000101981ENST00000218099p.E285Qc.853G>CSubstitution - Missense
XM_291344.4p.S873fs*12c.2618_2639del22Deletion - Frameshift
GPR111ENSG00000164393ENST00000296862p.L541Lc.1623C>TSubstitution - coding silent
SH3GLB2ENSG00000148341ENST00000372559p.?c.468+6G>CUnknown
XIRP2ENSG00000163092ENST00000295237p.K2733Kc.8199A>GSubstitution - coding silent
EHHADHENSG00000113790ENST00000231887p.?c.75-1G>TUnknown
TMEM216ENSG00000187049ENST00000334888p.L48Pc.143T>CSubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.A1237Tc.3709G>ASubstitution - Missense
CNTFRENSG00000122756ENST00000378980p.W226*c.677G>ASubstitution - Nonsense
ENST00000398816p.D194Nc.580G>ASubstitution - Missense
KDM4CENSG00000107077ENST00000381309p.A630Sc.1888G>TSubstitution - Missense
C15orf39ENSG00000167173ENST00000360639p.L1002Lc.3006G>ASubstitution - coding silent
ENST00000368148p.E530Gc.1589A>GSubstitution - Missense
GLB1L2ENSG00000149328ENST00000339772p.?c.285-5T>GUnknown
ITGA8ENSG00000077943ENST00000378076p.V648Ac.1943T>CSubstitution - Missense
ADARENSG00000160710ENST00000368474p.?c.3020-9C>GUnknown
FAM179BENSG00000198718ENST00000361577p.A734delAc.2196_2198delTGCDeletion - In frame
NM_020856.1p.L620Fc.1860G>TSubstitution - Missense
DMRT3ENSG00000064218ENST00000190165p.A225Vc.674C>TSubstitution - Missense
AQP3ENSG00000165272ENST00000297991p.V186Ic.556G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.E19Qc.55G>CSubstitution - Missense
PLECENSG00000178209ENST00000354958p.E4105Kc.12313G>ASubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.N1392Hc.4174A>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.?c.41510-6T>CUnknown
KLHDC4ENSG00000104731ENST00000270583p.E510Dc.1530A>CSubstitution - Missense
ENST00000333535_v68p.V1468Vc.4404C>TSubstitution - coding silent
SCN5AENSG00000183873ENST00000333535p.Y1681Fc.5042A>TSubstitution - Missense
SLC23A3ENSG00000213901ENST00000295738p.R132Gc.394C>GSubstitution - Missense
CHRNDENSG00000135902ENST00000258385p.K245Kc.735G>ASubstitution - coding silent
ENST00000452299p.F136Lc.408C>GSubstitution - Missense
FYNENSG00000010810ENST00000354650p.S70Sc.210G>ASubstitution - coding silent
BRCA1ENSG00000012048ENST00000471181p.?c.671-8A>GUnknown
ATAD5ENSG00000176208ENST00000321990p.?c.2956+9T>CUnknown
NEBENSG00000183091ENST00000427231p.I7175Ic.21525C>TSubstitution - coding silent
LSM2ENSG00000204392ENST00000375661p.S24Sc.72C>TSubstitution - coding silent
TFAP2DENSG00000008197ENST00000008391p.T224Tc.672T>GSubstitution - coding silent
TMEM171ENSG00000157111ENST00000287773p.T283Mc.848C>TSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.V317Ac.950T>CSubstitution - Missense
NACAENSG00000196531ENST00000454682p.I1716Vc.5146A>GSubstitution - Missense
AMNENSG00000166126ENST00000299155p.D141Dc.423C>TSubstitution - coding silent
PDCD11ENSG00000148843ENST00000369797p.Y1671Yc.5013C>TSubstitution - coding silent
MKRN3ENSG00000179455ENST00000314520p.A288Sc.862G>TSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.R1131Kc.3392G>ASubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.P660Pc.1980T>GSubstitution - coding silent
HEATR4ENSG00000187105ENST00000553558p.F236Lc.706T>CSubstitution - Missense
HEATR4ENSG00000187105ENST00000334988p.F189Lc.565T>CSubstitution - Missense
C8AENSG00000157131ENST00000361249p.L9Sc.26T>CSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.L703Pc.2108T>CSubstitution - Missense
SH2D1AENSG00000183918ENST00000371139p.A3Sc.7G>TSubstitution - Missense
MGAT5BENSG00000167889ENST00000301618p.A400Ac.1200G>ASubstitution - coding silent
RGS12ENSG00000159788ENST00000344733p.?c.3108-8C>AUnknown
SNED1ENSG00000162804ENST00000310397p.P1005Pc.3015C>TSubstitution - coding silent
LLGL2ENSG00000073350ENST00000392550p.T329Tc.987C>TSubstitution - coding silent
LLGL2ENSG00000073350ENST00000578363p.T329Tc.987C>TSubstitution - coding silent
C1QTNF3ENSG00000082196ENST00000382065p.T261fs*8c.782_783delCADeletion - Frameshift
CNGB1ENSG00000070729ENST00000251102p.R1077Wc.3229C>TSubstitution - Missense
CMTM1ENSG00000089505ENST00000379500p.I110Mc.330C>GSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.V1227Ic.3679G>ASubstitution - Missense
SRRTENSG00000087087ENST00000347433p.T544Tc.1632G>ASubstitution - coding silent
PRKCEENSG00000171132ENST00000306156p.?c.1263+5G>CUnknown
SLC12A2ENSG00000064651ENST00000262461p.?c.1536+8T>AUnknown
GPR98ENSG00000164199ENST00000405460p.I2187Vc.6559A>GSubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.A746Ac.2238G>ASubstitution - coding silent
VAT1ENSG00000108828ENST00000355653p.G184Sc.550G>ASubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.H760Lc.2279A>TSubstitution - Missense
SEPT7ENSG00000122545ENST00000399034p.A410Pc.1228G>CSubstitution - Missense
SLC1A6ENSG00000105143ENST00000221742p.N508Nc.1524C>TSubstitution - coding silent
TBCCD1ENSG00000113838ENST00000338733p.R456Gc.1366A>GSubstitution - Missense
ENST00000454161p.T905Nc.2714C>ASubstitution - Missense
ENSG00000255622ENST00000539533p.S503Fc.1508C>TSubstitution - Missense
FILIP1ENSG00000118407ENST00000393004p.V55Vc.165C>GSubstitution - coding silent
KRT78ENSG00000170423ENST00000304620p.D376Gc.1127A>GSubstitution - Missense
C10orf10ENSG00000165507ENST00000298295p.R83*c.247C>TSubstitution - Nonsense
KMT2DENSG00000167548ENST00000301067p.R3437Qc.10310G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.I2337Ic.7011C>TSubstitution - coding silent
PSDENSG00000059915ENST00000020673p.R23Cc.67C>TSubstitution - Missense
MRPS15ENSG00000116898ENST00000373116p.G39Sc.115G>ASubstitution - Missense
NELL2ENSG00000184613ENST00000437801p.A587Ac.1761C>TSubstitution - coding silent
OTOGENSG00000188162ENST00000399397p.A2061Tc.6181G>ASubstitution - Missense
KIAA0754ENSG00000255103ENST00000530275p.S723Lc.2168C>TSubstitution - Missense
PDK2ENSG00000005882ENST00000503176p.R107Hc.320G>ASubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.Q1032Qc.3096G>ASubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.V317Ac.950T>CSubstitution - Missense
RBM5ENSG00000003756ENST00000347869p.L389Fc.1167G>TSubstitution - Missense
TSGA10ENSG00000135951ENST00000355053p.Q70Qc.210G>ASubstitution - coding silent
ABI3BPENSG00000154175ENST00000383691p.?c.1669+2T>CUnknown
SCN10AENSG00000185313ENST00000449082p.P18Lc.53C>TSubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.A453Tc.1357G>ASubstitution - Missense
MAP1BENSG00000131711ENST00000296755p.S1400Gc.4198A>GSubstitution - Missense
SETD2ENSG00000181555ENST00000409792p.S1769Yc.5306C>ASubstitution - Missense
SETD2ENSG00000181555ENST00000330022p.S1266Yc.3797C>ASubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.D596Dc.1788C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.?c.10681-1G>CUnknown
DHX57ENSG00000163214ENST00000295373p.L1073Fc.3219G>TSubstitution - Missense
RWDD2AENSG00000013392ENST00000369724p.Q168Qc.504G>ASubstitution - coding silent
ENST00000319379p.L2623Qc.7868T>ASubstitution - Missense
TAF6ENSG00000106290ENST00000344095p.K5Rc.14A>GSubstitution - Missense
ENST00000316490p.A3491Tc.10471G>ASubstitution - Missense
FMNL2ENSG00000157827ENST00000288670p.E152Ac.455A>CSubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.K771Ec.2311A>GSubstitution - Missense
ENST00000335106p.T929Tc.2787C>GSubstitution - coding silent
FAM83BENSG00000168143ENST00000306858p.S312Lc.935C>TSubstitution - Missense
KLHL2ENSG00000109466ENST00000226725p.L264Lc.790T>CSubstitution - coding silent
XM_372262.3p.A468Tc.1402G>ASubstitution - Missense
TXNDC12ENSG00000117862ENST00000371626p.R114Qc.341G>ASubstitution - Missense
ENST00000368915p.G2516Dc.7547G>ASubstitution - Missense
ZMYM4ENSG00000146463ENST00000314607p.?c.3528+8G>AUnknown
AKR1C3ENSG00000196139ENST00000380554p.?c.928_930-3del1783Unknown
ENST00000426033p.T896Nc.2687C>ASubstitution - Missense
PLA2G4AENSG00000116711ENST00000367466p.P557Lc.1670C>TSubstitution - Missense
PIK3C2BENSG00000133056ENST00000367187p.Y355Cc.1064A>GSubstitution - Missense
ALG10BENSG00000175548ENST00000308742p.V438Vc.1314T>GSubstitution - coding silent
PCSK6ENSG00000140479ENST00000331826p.A459Ac.1377G>ASubstitution - coding silent
TSHRENSG00000165409ENST00000541158p.G753Sc.2257G>ASubstitution - Missense
HOXB6ENSG00000108511ENST00000225648p.S141Fc.422C>TSubstitution - Missense
ZNF676ENSG00000196109ENST00000397121p.I351Ic.1053C>ASubstitution - coding silent
GNA11ENSG00000088256ENST00000078429p.Y128Yc.384C>TSubstitution - coding silent
LPIN2ENSG00000101577ENST00000261596p.P800Pc.2400G>ASubstitution - coding silent
FLOT2ENSG00000132589ENST00000394908p.A373Ac.1119C>TSubstitution - coding silent
LONP2ENSG00000102910ENST00000285737p.R246Cc.736C>TSubstitution - Missense
PDCD2ENSG00000071994ENST00000541970p.Y109Cc.326A>GSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.D3150Dc.9450T>CSubstitution - coding silent
LLGL2ENSG00000073350ENST00000167462p.T329Tc.987C>TSubstitution - coding silent
NDNFENSG00000173376ENST00000379692p.G549Rc.1645G>ASubstitution - Missense
CYTH2ENSG00000105443ENST00000452733p.Q169Rc.506A>GSubstitution - Missense
TNCENSG00000041982ENST00000350763p.R900Qc.2699G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.E1929Ac.5786A>CSubstitution - Missense
ABCB6ENSG00000115657ENST00000265316p.Y599Cc.1796A>GSubstitution - Missense
ENST00000377325_v70p.R392*c.1174C>TSubstitution - Nonsense
ENST00000378024_v70p.D588Dc.1764T>CSubstitution - coding silent
MAST4ENSG00000069020ENST00000403625p.S2060delSc.6174_6176delCTCDeletion - In frame
MAGEA12ENSG00000213401ENST00000357916p.E13Ec.39G>ASubstitution - coding silent
IMPA1ENSG00000133731ENST00000449740p.V293Mc.877G>ASubstitution - Missense
MAP3K12ENSG00000139625ENST00000547035p.E520*c.1558G>TSubstitution - Nonsense
STK40ENSG00000196182ENST00000373129p.H415Hc.1245C>TSubstitution - coding silent
JMJD1CENSG00000171988ENST00000399262p.S880Pc.2638T>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.P1769Lc.5306C>TSubstitution - Missense
CNOT2ENSG00000111596ENST00000229195p.L360Lc.1078C>TSubstitution - coding silent
C2CD5ENSG00000111731ENST00000333957p.Y98Cc.293A>GSubstitution - Missense
DICER1ENSG00000100697ENST00000343455p.M1407Ic.4221G>ASubstitution - Missense
PHF6ENSG00000156531ENST00000332070p.M81Ic.243G>ASubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.L503Pc.1508T>CSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.R1486Wc.4456C>TSubstitution - Missense
CDH17ENSG00000079112ENST00000027335p.N122Sc.365A>GSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.V317Ac.950T>CSubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.T1299Mc.3896C>TSubstitution - Missense
EIF5BENSG00000158417ENST00000289371p.L837Lc.2511T>CSubstitution - coding silent
PSMB10ENSG00000205220ENST00000358514p.K256Nc.768G>TSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.D557Dc.1671T>CSubstitution - coding silent
DTX3LENSG00000163840ENST00000296161p.A295Sc.883G>TSubstitution - Missense
EXOC3L2ENSG00000130201ENST00000252482p.D44Dc.132C>TSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.L2918Lc.8754G>ASubstitution - coding silent
THSD7AENSG00000005108ENST00000423059p.L34_L35insPLPLc.80_81ins12Insertion - In frame
AP5S1ENSG00000125843ENST00000379567p.?c.177-6C>GUnknown
CDYLENSG00000153046ENST00000328908p.A237Ac.711G>ASubstitution - coding silent
DEFB112ENSG00000180872ENST00000322246p.R60Pc.179G>CSubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.T273fs*4c.818_900del83Deletion - Frameshift
ENST00000395988p.S355Rc.1065C>ASubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.R142Hc.425G>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.R2056Qc.6167G>ASubstitution - Missense
POLR3AENSG00000148606ENST00000372371p.E1270Kc.3808G>ASubstitution - Missense
RAG2ENSG00000175097ENST00000311485p.R237Sc.711G>TSubstitution - Missense
MYF6ENSG00000111046ENST00000228641p.A97Ac.291C>TSubstitution - coding silent
PLXNC1ENSG00000136040ENST00000258526p.D1273Hc.3817G>CSubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.V658Vc.1974C>GSubstitution - coding silent
WDR3ENSG00000065183ENST00000349139p.L860Rc.2579T>GSubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.H77Hc.231C>TSubstitution - coding silent
VPS33AENSG00000139719ENST00000267199p.R509Gc.1525C>GSubstitution - Missense
NM_015906p.R180Wc.538C>TSubstitution - Missense
ZFC3H1ENSG00000133858ENST00000378743p.D1384Ec.4152T>ASubstitution - Missense
PCSK6ENSG00000140479ENST00000348070p.A459Ac.1377G>ASubstitution - coding silent
HS1BP3ENSG00000118960ENST00000304031p.L296Hc.887T>ASubstitution - Missense
CHTF18ENSG00000127586ENST00000262315p.S135Sc.405C>TSubstitution - coding silent
PDCD1LG2ENSG00000197646ENST00000397747p.?c.632-1G>CUnknown
MGAMENSG00000257335ENST00000549489p.Q273Qc.819G>ASubstitution - coding silent
KIAA1549ENSG00000122778ENST00000422774p.H1460Lc.4379A>TSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.T1389Tc.4167G>TSubstitution - coding silent
SLC7A2ENSG00000003989ENST00000494857p.L410Fc.1228C>TSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.S1419Fc.4256C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V3123Vc.9369C>TSubstitution - coding silent
APRTENSG00000198931ENST00000378364p.M136Tc.407T>CSubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.G749Rc.2245G>ASubstitution - Missense
RNF144AENSG00000151692ENST00000320892p.Y191Yc.573C>TSubstitution - coding silent
SH3RF3ENSG00000172985ENST00000309415p.R867Rc.2601G>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.I7738Vc.23212A>GSubstitution - Missense
NFU1ENSG00000169599ENST00000410022p.A146Sc.436G>TSubstitution - Missense
ENST00000339092_v68p.S330Fc.989C>TSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380566p.E133Kc.397G>ASubstitution - Missense
GGA1ENSG00000100083ENST00000343632p.D148Nc.442G>ASubstitution - Missense
KDM4CENSG00000107077ENST00000381306p.A630Sc.1888G>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R175Hc.524G>ASubstitution - Missense
KCNH1ENSG00000143473ENST00000271751p.H570Hc.1710C>TSubstitution - coding silent
FOXI2ENSG00000186766ENST00000388920p.A242_T243insAc.726_727insGCCInsertion - In frame
DMBT1ENSG00000187908ENST00000368909p.G2387Dc.7160G>ASubstitution - Missense
CHFRENSG00000072609ENST00000432561p.E402Kc.1204G>ASubstitution - Missense
ENST00000510439_v68p.D164fs*6c.488delADeletion - Frameshift
SLC15A3ENSG00000110446ENST00000227880p.L339Lc.1017G>TSubstitution - coding silent
SMAD9ENSG00000120693ENST00000350148p.S12delSc.35_37delCCTDeletion - In frame
COL13A1ENSG00000197467ENST00000398978p.G604Gc.1812A>GSubstitution - coding silent
ASPMENSG00000066279ENST00000367409p.H1949Rc.5846A>GSubstitution - Missense
TMEM189-UBE2V1ENSG00000124208ENST00000341698p.?c.966+3_968del1214Unknown
C20orf194ENSG00000088854ENST00000252032p.T831Ic.2492C>TSubstitution - Missense
RHOBTB2ENSG00000008853ENST00000251822p.S290Fc.869C>TSubstitution - Missense
CABS1ENSG00000145309ENST00000273936p.V127Fc.379G>TSubstitution - Missense
ENST00000389322p.Q273Qc.819G>ASubstitution - coding silent
USP43ENSG00000154914ENST00000285199p.L298Lc.892C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.E4127Kc.12379G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.?c.41711-6T>CUnknown
ADH6ENSG00000172955ENST00000394899p.S83fs*3c.249delCDeletion - Frameshift
RPL14ENSG00000188846ENST00000396203p.A156_A159delAAAAc.446_457del12Deletion - In frame
SYNE1ENSG00000131018ENST00000265368p.I7809Vc.23425A>GSubstitution - Missense
ATP6AP1ENSG00000071553ENST00000369762p.A386Vc.1157C>TSubstitution - Missense
ZRANB3ENSG00000121988ENST00000264159p.E770Kc.2308G>ASubstitution - Missense
MAGENSG00000105695ENST00000361922p.P380Pc.1140G>ASubstitution - coding silent
DSPENSG00000096696ENST00000379802p.F2096Sc.6287T>CSubstitution - Missense
PCDHGC4ENSG00000242419ENST00000306593p.P653Sc.1957C>TSubstitution - Missense
ENST00000230993_v65p.Y841Yc.2523T>CSubstitution - coding silent
TSPAN12ENSG00000106025ENST00000222747p.V162Ic.484G>ASubstitution - Missense
MMP9ENSG00000100985ENST00000372330p.?c.1175-10C>TUnknown
NUP188ENSG00000095319ENST00000372577p.R1279Hc.3836G>ASubstitution - Missense
COL13A1ENSG00000197467ENST00000356340p.G604Gc.1812A>GSubstitution - coding silent
NFASCENSG00000163531ENST00000367171p.N483Nc.1449C>TSubstitution - coding silent
HEATR1ENSG00000119285ENST00000366582p.Y245Cc.734A>GSubstitution - Missense
ENST00000342887p.V50Ic.148G>ASubstitution - Missense
STARD13ENSG00000133121ENST00000336934p.R974Rc.2922C>TSubstitution - coding silent
MLECENSG00000110917ENST00000228506p.S172Rc.516C>GSubstitution - Missense
DVL1ENSG00000107404ENST00000378891p.?c.1433-6C>GUnknown
TROVE2ENSG00000116747ENST00000367444p.S103Sc.309C>TSubstitution - coding silent
ATN1ENSG00000111676ENST00000396684p.H481Hc.1443T>CSubstitution - coding silent
FGFR1OP2ENSG00000111790ENST00000229395p.M113Tc.338T>CSubstitution - Missense
DISP2ENSG00000140323ENST00000267889p.S1025Sc.3075A>CSubstitution - coding silent
TTLL6ENSG00000170703ENST00000433608p.I53Mc.159C>GSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.P5Sc.13C>TSubstitution - Missense
SHANK1ENSG00000161681ENST00000391813p.S91Sc.273G>CSubstitution - coding silent
PIK3C3ENSG00000078142ENST00000262039p.E327Gc.980A>GSubstitution - Missense
NM_025134.3p.R839Hc.2516G>ASubstitution - Missense
ZNF813ENSG00000198346ENST00000396403p.K552Nc.1656G>CSubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.I95Mc.285A>GSubstitution - Missense
SLC12A8ENSG00000221955ENST00000393469p.L637Lc.1911G>ASubstitution - coding silent
AAK1ENSG00000115977ENST00000339092p.S330Fc.989C>TSubstitution - Missense
C3orf56ENSG00000214324ENST00000398112p.M132Kc.395T>ASubstitution - Missense
USP37ENSG00000135913ENST00000258399p.R420Kc.1259G>ASubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.T238Ic.713C>TSubstitution - Missense
PNPLA7ENSG00000130653ENST00000277531p.R797Sc.2391G>CSubstitution - Missense
DNAJC13ENSG00000138246ENST00000260818p.P1224Pc.3672T>GSubstitution - coding silent
CDK19ENSG00000155111ENST00000368911p.Q378*c.1132C>TSubstitution - Nonsense
NM_014866.1p.A746Ac.2238G>ASubstitution - coding silent
ZBBXENSG00000169064ENST00000455345p.K369Nc.1107A>TSubstitution - Missense
MAGENSG00000105695ENST00000392213p.P380Pc.1140G>ASubstitution - coding silent
MFN1ENSG00000171109ENST00000263969p.I601Lc.1801A>CSubstitution - Missense
GPR111ENSG00000164393ENST00000398742p.L473Lc.1419C>TSubstitution - coding silent
OTOAENSG00000155719ENST00000388958p.T785Pc.2353A>CSubstitution - Missense
MRPS30ENSG00000112996ENST00000507110p.E64Kc.190G>ASubstitution - Missense
MRPS30ENSG00000112996ENST00000507110p.E64Kc.190G>ASubstitution - Missense
ZNF454ENSG00000178187ENST00000320129p.V42Lc.124G>TSubstitution - Missense
SKIV2LENSG00000204351ENST00000375394p.?c.2341-2A>CUnknown
NOTCH4ENSG00000204301ENST00000375023p.E1349Ac.4046A>CSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T1907Tc.5721G>ASubstitution - coding silent
CUL9ENSG00000112659ENST00000252050p.S662Rc.1984A>CSubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.L1540Lc.4620C>TSubstitution - coding silent
TMEM63BENSG00000137216ENST00000259746p.?c.160-1G>AUnknown
PLCB1ENSG00000182621ENST00000404098p.H76Hc.228C>TSubstitution - coding silent
EXOC6ENSG00000138190ENST00000260762p.R508Wc.1522C>TSubstitution - Missense
EXOC6ENSG00000138190ENST00000371552p.R503Wc.1507C>TSubstitution - Missense
EXOC6ENSG00000138190ENST00000371547p.R524Wc.1570C>TSubstitution - Missense
ENST00000373120p.R186Cc.556C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.E1929Ac.5786A>CSubstitution - Missense
QSER1ENSG00000060749ENST00000399302p.N389Sc.1166A>GSubstitution - Missense
ENST00000326876p.F61Cc.182T>GSubstitution - Missense
EML3ENSG00000149499ENST00000529309p.S388Sc.1164G>ASubstitution - coding silent
NELL2ENSG00000184613ENST00000395487p.A536Ac.1608C>TSubstitution - coding silent
TMEM82ENSG00000162460ENST00000375782p.P323Qc.968C>ASubstitution - Missense
ASTN1ENSG00000152092ENST00000367654p.D1092Gc.3275A>GSubstitution - Missense
ENST00000406302p.T829Tc.2487G>ASubstitution - coding silent
RGS1ENSG00000090104ENST00000469578p.M1Tc.2T>CSubstitution - Missense
TROVE2ENSG00000116747ENST00000367446p.S103Sc.309C>TSubstitution - coding silent
ECE1ENSG00000117298ENST00000264205p.F448Fc.1344T>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.I896Fc.2686A>TSubstitution - Missense
DOCK7ENSG00000116641ENST00000251157p.A883Ac.2649G>ASubstitution - coding silent
SYNE2ENSG00000054654ENST00000357395p.T2885Tc.8655G>ASubstitution - coding silent
CCDC175ENSG00000151838ENST00000537690p.A316Ac.948G>ASubstitution - coding silent
MAPK3ENSG00000102882ENST00000403394p.R87Rc.261G>CSubstitution - coding silent
ENST00000342204p.R93Qc.278G>ASubstitution - Missense
DNAAF3ENSG00000167646ENST00000527223p.S122Fc.365C>TSubstitution - Missense
PCK1ENSG00000124253ENST00000535860p.L304Mc.910C>ASubstitution - Missense
ZRANB3ENSG00000121988ENST00000536680p.E768Kc.2302G>ASubstitution - Missense
ENSG00000268241ENST00000595354p.G54Sc.160G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.V1223Ic.3667G>ASubstitution - Missense
ENST00000310397_v70p.P1005Pc.3015C>TSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000361291p.A620Ac.1860T>GSubstitution - coding silent
DHX36ENSG00000174953ENST00000544526p.K583Kc.1749A>GSubstitution - coding silent
NEK11ENSG00000114670ENST00000511262p.S239Sc.717C>TSubstitution - coding silent
NEK11ENSG00000114670ENST00000507910p.S239Sc.717C>TSubstitution - coding silent
ECT2ENSG00000114346ENST00000540509p.G106Sc.316G>ASubstitution - Missense
RGS12ENSG00000159788ENST00000538395p.?c.1134-8C>AUnknown
KRTAP5-10ENSG00000204572ENST00000376536p.C91_S104>GSKGc.270_312>13Complex - deletion inframe
MAST4ENSG00000069020ENST00000403666p.S1871delSc.5607_5609delCTCDeletion - In frame
MAST4ENSG00000069020ENST00000261569p.S1866delSc.5592_5594delCTCDeletion - In frame
ENST00000338970_v70p.A156_A159delAAAAc.446_457del12Deletion - In frame
LMLNENSG00000185621ENST00000482695p.K60fs*4c.175delADeletion - Frameshift
COL13A1ENSG00000197467ENST00000398972p.G590Gc.1770A>GSubstitution - coding silent
ENST00000539533_v68p.S503Fc.1508C>TSubstitution - Missense
UNC5AENSG00000113763ENST00000261961p.L440Ic.1318C>ASubstitution - Missense
UNC5AENSG00000113763ENST00000261961p.Y529Yc.1587C>TSubstitution - coding silent
NKAIN2ENSG00000188580ENST00000368416p.G2Gc.6T>GSubstitution - coding silent
ZKSCAN8ENSG00000198315ENST00000536028p.R143Gc.427A>GSubstitution - Missense
GABRR2ENSG00000111886ENST00000402938p.R263Wc.787A>TSubstitution - Missense
PHF14ENSG00000106443ENST00000403050p.W506Gc.1516T>GSubstitution - Missense
PLECENSG00000178209ENST00000354589p.E4127Kc.12379G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.E4113Kc.12337G>ASubstitution - Missense
FUT10ENSG00000172728ENST00000335589p.P36Sc.106C>TSubstitution - Missense
SH3GLB2ENSG00000148341ENST00000372554p.?c.468+6G>CUnknown
PNPLA7ENSG00000130653ENST00000406427p.R822Sc.2466G>CSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.T1252Tc.3756G>ASubstitution - coding silent
PHF6ENSG00000156531ENST00000370800p.M81Ic.243G>ASubstitution - Missense
NR0B1ENSG00000169297ENST00000453287p.R51Kc.152G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
GCNT6ENSG00000205318ENST00000417671p.C76*c.228C>ASubstitution - Nonsense
FYNENSG00000010810ENST00000368682p.S70Sc.210G>ASubstitution - coding silent
TUBE1ENSG00000074935ENST00000368662p.E201Ec.603G>ASubstitution - coding silent
ENST00000441191p.E157Ec.471G>ASubstitution - coding silent
FDFT1ENSG00000079459ENST00000220584p.Q106Qc.318A>GSubstitution - coding silent
FKTNENSG00000106692ENST00000374705p.?c.96+10C>GUnknown
FILIP1ENSG00000118407ENST00000237172p.V55Vc.165C>GSubstitution - coding silent
MDN1ENSG00000112159ENST00000369393p.A664Ac.1992A>GSubstitution - coding silent
NM_004440p.Q464Qc.1392G>ASubstitution - coding silent
ANKFY1ENSG00000185722ENST00000574367p.G918Gc.2754C>TSubstitution - coding silent
EPXENSG00000121053ENST00000225371p.?c.1121-9G>AUnknown
ECT2ENSG00000114346ENST00000232458p.G75Sc.223G>ASubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.N601Nc.1803C>TSubstitution - coding silent
ENST00000576222_v68p.N601Nc.1803C>TSubstitution - coding silent
DBHENSG00000123454ENST00000393056p.D284Nc.850G>ASubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.P343Sc.1027C>TSubstitution - Missense
NM_014866.1p.P343Sc.1027C>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.D1813Yc.5437G>TSubstitution - Missense
SAMD4BENSG00000179134ENST00000314471p.I503Ic.1509C>TSubstitution - coding silent
CCDC97ENSG00000142039ENST00000269967p.E249Dc.747G>TSubstitution - Missense
ANLNENSG00000011426ENST00000265748p.R810Gc.2428C>GSubstitution - Missense
OFD1ENSG00000046651ENST00000340096p.Q189*c.565C>TSubstitution - Nonsense
OFD1ENSG00000046651ENST00000398395p.Q189*c.565C>TSubstitution - Nonsense
ZIC3ENSG00000156925ENST00000287538p.P456Hc.1367C>ASubstitution - Missense
SLC4A9ENSG00000113073ENST00000506757p.Y817Yc.2451T>CSubstitution - coding silent
PCDHB11ENSG00000197479ENST00000354757p.D377Vc.1130A>TSubstitution - Missense
ZKSCAN8ENSG00000198315ENST00000330236p.?c.417+10A>GUnknown
DPCR1ENSG00000168631ENST00000462446p.N431Nc.1293C>TSubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.R59Rc.175A>CSubstitution - coding silent
C6orf15ENSG00000204542ENST00000259870p.R126Cc.376C>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
BCAP29ENSG00000075790ENST00000445771p.G257Gc.771A>GSubstitution - coding silent
NM_001007157.1p.W506Gc.1516T>GSubstitution - Missense
KCND2ENSG00000184408ENST00000331113p.P163Pc.489C>ASubstitution - coding silent
ENST00000397266p.T592Ic.1775C>TSubstitution - Missense
PURBENSG00000146676ENST00000395699p.R45Rc.135C>TSubstitution - coding silent
PDGFAENSG00000197461ENST00000354513p.S114Sc.342C>TSubstitution - coding silent
PDGFAENSG00000197461ENST00000402802p.S114Sc.342C>TSubstitution - coding silent
COBLENSG00000106078ENST00000395542p.P415Pc.1245A>CSubstitution - coding silent
ENST00000316490_v65p.A3539Tc.10615G>ASubstitution - Missense
METTL9ENSG00000197006ENST00000358154p.T199Mc.596C>TSubstitution - Missense
TMEM159ENSG00000011638ENST00000233047p.S93Tc.277T>ASubstitution - Missense
CACNG3ENSG00000006116ENST00000005284p.F186Lc.558C>ASubstitution - Missense
MRI1ENSG00000037757ENST00000040663p.A172Pc.514G>CSubstitution - Missense
NEBENSG00000183091ENST00000397345p.Q8267Kc.24799C>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.L6208Vc.18622C>GSubstitution - Missense
NEBENSG00000183091ENST00000397345p.L6208Vc.18622C>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.L4507Vc.13519C>GSubstitution - Missense
UPP2ENSG00000007001ENST00000409859p.D284Gc.851A>GSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.H34Rc.101A>GSubstitution - Missense
MRFAP1ENSG00000179010ENST00000320912p.D87Dc.261C>TSubstitution - coding silent
DPP6ENSG00000130226ENST00000332007p.K709Ec.2125A>GSubstitution - Missense
DPP6ENSG00000130226ENST00000404039p.K707Ec.2119A>GSubstitution - Missense
PSMG3ENSG00000157778ENST00000288607p.E2_T4delEDTc.4_12delGAAGACACGDeletion - In frame
KIAA1671ENSG00000197077ENST00000358431p.G1158Rc.3472G>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.R672Qc.2015G>ASubstitution - Missense
FAM129BENSG00000136830ENST00000373312p.N74Sc.221A>GSubstitution - Missense
LRRC8AENSG00000136802ENST00000372599p.E800Ec.2400G>ASubstitution - coding silent
CLCN2ENSG00000114859ENST00000265593p.C194Fc.581G>TSubstitution - Missense
MSMO1ENSG00000052802ENST00000261507p.E89Gc.266A>GSubstitution - Missense
GALNT7ENSG00000109586ENST00000265000p.?c.1389+6T>GUnknown
MYO10ENSG00000145555ENST00000274203p.R142Hc.425G>ASubstitution - Missense
TRAPPC11ENSG00000168538ENST00000334690p.T249Tc.747C>TSubstitution - coding silent
UNC5AENSG00000113763ENST00000329542p.L480Ic.1438C>ASubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.Y1681Fc.5042A>TSubstitution - Missense
ENST00000333535_v68p.Y1681Fc.5042A>TSubstitution - Missense
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
IGSF10ENSG00000152580ENST00000282466p.Q727Rc.2180A>GSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.D2260Dc.6780C>TSubstitution - coding silent
ENST00000313019p.A155Ac.465C>GSubstitution - coding silent
ENST00000313019p.?c.168+6C>AUnknown
SHOX2ENSG00000168779ENST00000425436p.?c.627+6C>AUnknown
SHPRHENSG00000146414ENST00000367505p.C817Cc.2451C>TSubstitution - coding silent
SHPRHENSG00000146414ENST00000438092p.C817Cc.2451C>TSubstitution - coding silent
SYTL3ENSG00000164674ENST00000360448p.C190Rc.568T>CSubstitution - Missense
SLC22A2ENSG00000112499ENST00000366953p.P54Pc.162C>TSubstitution - coding silent
FGL2ENSG00000127951ENST00000248598p.W407Cc.1221G>CSubstitution - Missense
CDKL5ENSG00000008086ENST00000379996p.S810Fc.2429C>TSubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.I95Mc.285A>GSubstitution - Missense
DBIENSG00000155368ENST00000535617p.?c.9+10G>CUnknown
MYO7BENSG00000169994ENST00000428314p.P1159Rc.3476C>GSubstitution - Missense
CLASP1ENSG00000074054ENST00000545861p.K5Kc.15A>GSubstitution - coding silent
SAP130ENSG00000136715ENST00000357702p.S665Sc.1995G>ASubstitution - coding silent
CCDC108ENSG00000181378ENST00000341552p.K567Kc.1701G>ASubstitution - coding silent
FBXO36ENSG00000153832ENST00000283946p.?c.1_69del69Unknown
SP110ENSG00000135899ENST00000258381p.E692Kc.2074G>ASubstitution - Missense
GIGYF2ENSG00000204120ENST00000373563p.Q1216_P1217insQc.3633_3634insCAGInsertion - In frame
GIGYF2ENSG00000204120ENST00000409451p.Q1237_P1238insQc.3696_3697insCAGInsertion - In frame
MROH2AENSG00000185038ENST00000389758p.S415Sc.1245C>TSubstitution - coding silent
SLC12A8ENSG00000221955ENST00000393469p.L599Lc.1797G>ASubstitution - coding silent
ISY1ENSG00000240682ENST00000393295p.G51Gc.153A>CSubstitution - coding silent
TCF20ENSG00000100207ENST00000359486p.R1408Kc.4223G>ASubstitution - Missense
SMC1BENSG00000077935ENST00000357450p.R1210Qc.3629G>ASubstitution - Missense
NM_148674.1p.R1212Qc.3635G>ASubstitution - Missense
SLC6A20ENSG00000163817ENST00000358525p.K141Kc.423G>ASubstitution - coding silent
SLC6A20ENSG00000163817ENST00000353278p.K141Kc.423G>ASubstitution - coding silent
MAST4ENSG00000069020ENST00000405643p.S1881delSc.5637_5639delCTCDeletion - In frame
CUL9ENSG00000112659ENST00000252050p.A111Sc.331G>TSubstitution - Missense
MYL10ENSG00000106436ENST00000223167p.E192Dc.576G>TSubstitution - Missense
HAUS6ENSG00000147874ENST00000380502p.H13Yc.37C>TSubstitution - Missense
TEX11ENSG00000120498ENST00000374333p.I796Lc.2386A>TSubstitution - Missense
COPEENSG00000105669ENST00000262812p.R166Gc.496C>GSubstitution - Missense
ZNF93ENSG00000184635ENST00000343769p.S466Sc.1398A>TSubstitution - coding silent
ENST00000344519_v61p.T272fs*4c.815_897del83Deletion - Frameshift
ZNF93ENSG00000184635ENST00000343769p.A377Ac.1131C>TSubstitution - coding silent
XPO6ENSG00000169180ENST00000304658p.A709Vc.2126C>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.M311Tc.932T>CSubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.R87Rc.261G>CSubstitution - coding silent
MAPK3ENSG00000102882ENST00000263025p.R87Rc.261G>CSubstitution - coding silent
SETD1AENSG00000099381ENST00000262519p.D639Dc.1917T>CSubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.R2070*c.6208C>TSubstitution - Nonsense
NM_032143.1p.E233Kc.697G>ASubstitution - Missense
NCKAP5ENSG00000176771ENST00000405974p.E26Kc.76G>ASubstitution - Missense
ADPRHENSG00000144843ENST00000357003p.A310Tc.928G>ASubstitution - Missense
NM_173823.1p.P607Pc.1821T>GSubstitution - coding silent
SRPRBENSG00000144867ENST00000466490p.S39*c.116C>GSubstitution - Nonsense
BFSP2ENSG00000170819ENST00000302334p.?c.489+8T>AUnknown
TBC1D9ENSG00000109436ENST00000442267p.Q448Qc.1344G>ASubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.Q448Qc.1344G>ASubstitution - coding silent
MAML3ENSG00000196782ENST00000509479p.G1111Rc.3331G>CSubstitution - Missense
TIGD4ENSG00000169989ENST00000304337p.Q277*c.829C>TSubstitution - Nonsense
GUCY1A3ENSG00000164116ENST00000296518p.?c.255+9G>AUnknown
SLIT2ENSG00000145147ENST00000504154p.V1160Lc.3478G>CSubstitution - Missense
ENST00000248151p.N164fs*1c.485_486insTAInsertion - Frameshift
SMIM20ENSG00000250317ENST00000506197p.R44Rc.132G>ASubstitution - coding silent
SLC12A2ENSG00000064651ENST00000262461p.?c.1536+7A>TUnknown
CHMENSG00000188419ENST00000357749p.D353Gc.1058A>GSubstitution - Missense
GCNT6ENSG00000205318ENST00000417671p.A53Tc.157G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.I1720Mc.5160T>GSubstitution - Missense
CBX2ENSG00000173894ENST00000310942p.S473Sc.1419C>ASubstitution - coding silent
PER1ENSG00000179094ENST00000317276p.Q135Qc.405G>ASubstitution - coding silent
ZNF625ENSG00000257591ENST00000439556p.L71Fc.211C>TSubstitution - Missense
NM_032217.3p.D1243Gc.3728A>GSubstitution - Missense
PPEF2ENSG00000156194ENST00000286719p.Y145Yc.435C>TSubstitution - coding silent
CBLN1ENSG00000102924ENST00000219197p.G110Gc.330G>TSubstitution - coding silent
CPNE2ENSG00000140848ENST00000290776p.E65Kc.193G>ASubstitution - Missense
HYAL3ENSG00000186792ENST00000336307p.L160Lc.480G>ASubstitution - coding silent
MST1RENSG00000164078ENST00000296474p.P863Sc.2587C>TSubstitution - Missense
ENST00000273600p.E19Qc.55G>CSubstitution - Missense
ACY1ENSG00000243989ENST00000458031p.M19Vc.55A>GSubstitution - Missense
ENST00000273600p.D3214Dc.9642T>CSubstitution - coding silent
MYLK4ENSG00000145949ENST00000274643p.?c.1120-6C>TUnknown
MYLK4ENSG00000145949ENST00000268446p.?c.1120-6C>TUnknown
ENST00000242365_v65p.H1410Lc.4229A>TSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.Q273Qc.819G>ASubstitution - coding silent
ENSG00000257743ENST00000477922p.L1528Lc.4584G>TSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.E4154Kc.12460G>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.S1390Cc.4168A>TSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.Q1163Ec.3487C>GSubstitution - Missense
ZNF704ENSG00000164684ENST00000327835p.C398Yc.1193G>ASubstitution - Missense
USP43ENSG00000154914ENST00000285199p.G297Gc.891C>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.A156Pc.466G>CSubstitution - Missense
ANKRD30BENSG00000180777ENST00000447268p.A156Pc.466G>CSubstitution - Missense
ENST00000309305p.V45Vc.135G>CSubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000402254p.W34Rc.100T>CSubstitution - Missense
DNAAF3ENSG00000167646ENST00000391720p.S101Fc.302C>TSubstitution - Missense
DEFB115ENSG00000215547ENST00000400552p.D32Ec.96T>ASubstitution - Missense
HCKENSG00000101336ENST00000375852p.G33Rc.97G>ASubstitution - Missense
HCKENSG00000101336ENST00000538448p.G12Rc.34G>ASubstitution - Missense
SP9ENSG00000217236ENST00000394967p.A393Ac.1179C>TSubstitution - coding silent
NM_003319p.?c.41135-6T>CUnknown
TTNENSG00000155657ENST00000359218p.I7906Ic.23718T>CSubstitution - coding silent
ENST00000356127p.I14278Ic.42834T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.I7973Ic.23919T>CSubstitution - coding silent
SPATS2LENSG00000196141ENST00000409718p.T236Ac.706A>GSubstitution - Missense
SPATS2LENSG00000196141ENST00000409755p.T266Ac.796A>GSubstitution - Missense
SPATS2LENSG00000196141ENST00000409718p.T236Ac.706A>GSubstitution - Missense
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
ABI3BPENSG00000154175ENST00000383691p.N644Hc.1930A>CSubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.?c.3838+2T>CUnknown
CA5AENSG00000174990ENST00000309893p.W24Cc.72G>TSubstitution - Missense
APRTENSG00000198931ENST00000378364p.M136Tc.407T>CSubstitution - Missense
RGS19ENSG00000171700ENST00000395042p.A106Ac.318G>ASubstitution - coding silent
ANGPT4ENSG00000101280ENST00000381922p.?c.310-3C>GUnknown
DRG1ENSG00000185721ENST00000331457p.?c.412+1G>AUnknown
MUC4ENSG00000145113ENST00000463781p.W4840*c.14520G>ASubstitution - Nonsense
MUC4ENSG00000145113ENST00000346145p.W604*c.1812G>ASubstitution - Nonsense
ENST00000405167p.W4712*c.14136G>ASubstitution - Nonsense
ADI1ENSG00000182551ENST00000327435p.L127Lc.381C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P3424Lc.10271C>TSubstitution - Missense
ENST00000405167p.P3424Lc.10271C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.R544Qc.1631G>ASubstitution - Missense
LMLNENSG00000185621ENST00000330198p.K112fs*4c.331delADeletion - Frameshift
CRYBG3ENSG00000080200ENST00000182096p.S245Cc.734C>GSubstitution - Missense
FUT10ENSG00000172728ENST00000327671p.N110Nc.330C>TSubstitution - coding silent
RIBC1ENSG00000158423ENST00000375327p.E325Kc.973G>ASubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.S126Pc.376T>CSubstitution - Missense
FADS6ENSG00000172782ENST00000310226p.V144Mc.430G>ASubstitution - Missense
LONRF2ENSG00000170500ENST00000393437p.D525Dc.1575T>CSubstitution - coding silent
GCC2ENSG00000135968ENST00000309863p.K405Qc.1213A>CSubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.V1468Vc.4404C>TSubstitution - coding silent
SCN5AENSG00000183873ENST00000333535p.V1468Vc.4404C>TSubstitution - coding silent
ECHDC2ENSG00000121310ENST00000358358p.?c.660+2T>GUnknown
AKAP6ENSG00000151320ENST00000280979p.E2028Vc.6083A>TSubstitution - Missense
BAZ1AENSG00000198604ENST00000382422p.K340Ic.1019A>TSubstitution - Missense
ENST00000331826_v68p.A294Ac.882G>ASubstitution - coding silent
LAD1ENSG00000159166ENST00000391967p.S221Lc.662C>TSubstitution - Missense
NM_032105.1p.T829Tc.2487G>ASubstitution - coding silent
NFASCENSG00000163531ENST00000360049p.N494Nc.1482C>TSubstitution - coding silent
NFASCENSG00000163531ENST00000403080p.N483Nc.1449C>TSubstitution - coding silent
PIK3C2BENSG00000133056ENST00000367184p.Y133Cc.398A>GSubstitution - Missense
BCL2L10ENSG00000137875ENST00000260442p.R202Rc.604C>ASubstitution - coding silent
DMXL2ENSG00000104093ENST00000251076p.D808Dc.2424C>TSubstitution - coding silent
TRPM7ENSG00000092439ENST00000313478p.N1466Sc.4397A>GSubstitution - Missense
HIP1RENSG00000130787ENST00000253083p.F65fs*66c.192delTDeletion - Frameshift
NCOR2ENSG00000196498ENST00000405201p.G1258Sc.3772G>ASubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.G844Rc.2530G>CSubstitution - Missense
RPA2ENSG00000117748ENST00000313433p.I271Mc.813C>GSubstitution - Missense
MYSM1ENSG00000162601ENST00000472487p.G689Ec.2066G>ASubstitution - Missense
RAVER2ENSG00000162437ENST00000371072p.Q121Qc.363G>ASubstitution - coding silent
SRSF11ENSG00000116754ENST00000370950p.E47Qc.139G>CSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.Q917Hc.2751G>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.T6523Tc.19569G>ASubstitution - coding silent
SYNE2ENSG00000054654ENST00000458046p.T157Tc.471G>ASubstitution - coding silent
CSNK1G1ENSG00000169118ENST00000303052p.I172Tc.515T>CSubstitution - Missense
NM_022048p.I172Tc.515T>CSubstitution - Missense
PTPLAD1ENSG00000074696ENST00000261875p.I341Mc.1023A>GSubstitution - Missense
ANKDD1AENSG00000166839ENST00000380230p.L97Lc.291G>ASubstitution - coding silent
GBP3ENSG00000117226ENST00000370481p.T207Mc.620C>TSubstitution - Missense
GJB2ENSG00000165474ENST00000382844p.L79fs*3c.235delCDeletion - Frameshift
AQRENSG00000021776ENST00000156471p.N1255Dc.3763A>GSubstitution - Missense
PLCB2ENSG00000137841ENST00000260402p.K1046Nc.3138G>CSubstitution - Missense
PLCB2ENSG00000137841ENST00000260402p.K1046Nc.3138G>CSubstitution - Missense
ENST00000268613_v61p.T670Rc.2009C>GSubstitution - Missense
CHTF18ENSG00000127586ENST00000317063p.S332Sc.996C>TSubstitution - coding silent
HSD17B2ENSG00000086696ENST00000199936p.G343Gc.1029C>TSubstitution - coding silent
TTLL6ENSG00000170703ENST00000393382p.I312Mc.936C>GSubstitution - Missense
ZNF804AENSG00000170396ENST00000302277p.N379Hc.1135A>CSubstitution - Missense
OSGEPL1ENSG00000128694ENST00000264151p.P144Rc.431C>GSubstitution - Missense
RGAG1ENSG00000243978ENST00000465301p.A1157Ac.3471A>CSubstitution - coding silent
AIFM1ENSG00000156709ENST00000287295p.R569Rc.1707G>ASubstitution - coding silent
AIFM1ENSG00000156709ENST00000319908p.R565Rc.1695G>ASubstitution - coding silent
NXT2ENSG00000101888ENST00000218004p.R19delRc.51_53delAAGDeletion - In frame
MYOCDENSG00000141052ENST00000425538p.S451Rc.1353C>ASubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.S451Rc.1353C>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.?c.1658-8C>TUnknown
MGAT5BENSG00000167889ENST00000428789p.A411Ac.1233G>ASubstitution - coding silent
SRSF2ENSG00000161547ENST00000392485p.R167Lc.500G>TSubstitution - Missense
LGALS3BPENSG00000108679ENST00000262776p.F447_Y453delFQAPSDYc.1339_1359del21Deletion - In frame
ZNF91ENSG00000167232ENST00000300619p.P5Sc.13C>TSubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.L803Fc.2409G>TSubstitution - Missense
ZNF507ENSG00000168813ENST00000355898p.S333Pc.997T>CSubstitution - Missense
SLC6A16ENSG00000063127ENST00000335875p.V174fs*35c.521_531>GComplex - frameshift
CD33ENSG00000105383ENST00000262262p.P238fs*38c.711_729del19Deletion - Frameshift
SHANK1ENSG00000161681ENST00000293441p.S704Sc.2112G>CSubstitution - coding silent
CEP250ENSG00000126001ENST00000397527p.R2154Qc.6461G>ASubstitution - Missense
SIGLEC1ENSG00000088827ENST00000202578p.R1486Wc.4456C>TSubstitution - Missense
UBE2V1ENSG00000244687ENST00000340309p.?c.366+3_368del1214Unknown
PCK1ENSG00000124253ENST00000319441p.F406Lc.1218C>ASubstitution - Missense
WNT16ENSG00000002745ENST00000361301p.I60Ic.180C>TSubstitution - coding silent
ASB15ENSG00000146809ENST00000451558p.C541Rc.1621T>CSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.?c.3964+9C>TUnknown
APBA1ENSG00000107282ENST00000265381p.Y585Fc.1754A>TSubstitution - Missense
TNFRSF10BENSG00000120889ENST00000276431p.A221Vc.662C>TSubstitution - Missense
CA3ENSG00000164879ENST00000285381p.?c.233-3C>TUnknown
PHF12ENSG00000109118ENST00000332830p.R366Wc.1096C>TSubstitution - Missense
KRTAP5-10ENSG00000204572ENST00000398531p.C139_S152>GSKGc.414_456>13Complex - deletion inframe
ANO1ENSG00000131620ENST00000355303p.?c.1950+6C>TUnknown
ANO1ENSG00000131620ENST00000355303p.?c.1950+6C>TUnknown
APAF1ENSG00000120868ENST00000551964p.S745Lc.2234C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.I898Fc.2692A>TSubstitution - Missense
TCF7L2ENSG00000148737ENST00000543371p.P503Pc.1509T>GSubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.P212Lc.635C>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.F669Sc.2006T>CSubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.F669Sc.2006T>CSubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.H654Yc.1960C>TSubstitution - Missense
ENST00000237841p.L316Wc.947T>GSubstitution - Missense
NM_005056.1p.V658Vc.1974C>GSubstitution - coding silent
SCAF11ENSG00000139218ENST00000369367p.H279Nc.835C>ASubstitution - Missense
FLT3ENSG00000122025ENST00000241453p.?c.743-1G>TUnknown
TNNENSG00000120332ENST00000239462p.V598Vc.1794G>ASubstitution - coding silent
DLGAP3ENSG00000116544ENST00000373347p.Y454Yc.1362C>TSubstitution - coding silent
ENST00000314607_v71p.?c.3528+8G>AUnknown
STK40ENSG00000196182ENST00000373129p.H415Hc.1245C>TSubstitution - coding silent
CTSDENSG00000117984ENST00000236671p.A410Ac.1230C>TSubstitution - coding silent
ASTN1ENSG00000152092ENST00000361833p.D1084Gc.3251A>GSubstitution - Missense
ENST00000263528p.N664Sc.1991A>GSubstitution - Missense
RASAL2ENSG00000075391ENST00000462775p.N534Sc.1601A>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.I1889Vc.5665A>GSubstitution - Missense
CD4ENSG00000010610ENST00000011653p.?c.1278+1G>AUnknown
TRPC6ENSG00000137672ENST00000344327p.V129Vc.387G>ASubstitution - coding silent
USP2ENSG00000036672ENST00000260187p.G67Rc.199G>CSubstitution - Missense
ZC3H12CENSG00000149289ENST00000278590p.S752Cc.2255C>GSubstitution - Missense
KCNA10ENSG00000143105ENST00000369771p.L262Fc.784C>TSubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.?c.1801+9T>CUnknown
NBPF10ENSG00000163386ENST00000369338p.?c.988+9T>CUnknown
MOV10ENSG00000155363ENST00000357443p.V481Ic.1441G>ASubstitution - Missense
TPRENSG00000047410ENST00000367478p.T1575Tc.4725T>ASubstitution - coding silent
RGS1ENSG00000090104ENST00000367459p.M1Tc.2T>CSubstitution - Missense
TBL3ENSG00000183751ENST00000568546p.?c.189+6G>AUnknown
KIAA1217ENSG00000120549ENST00000376454p.T1343Rc.4028C>GSubstitution - Missense
ACOT2ENSG00000119673ENST00000238651p.L6Fc.16C>TSubstitution - Missense
IDH2ENSG00000182054ENST00000330062p.T104Tc.312C>TSubstitution - coding silent
AKR1C1ENSG00000187134ENST00000380872p.?c.83_85-3del2385Unknown
AKR1C3ENSG00000196139ENST00000380554p.?c.83_85-3del1881Unknown
ENST00000417177p.P1776Lc.5327C>TSubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.H77Hc.231C>TSubstitution - coding silent
JMJD1CENSG00000171988ENST00000402544p.S661Pc.1981T>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.P879Pc.2637T>GSubstitution - coding silent
ANAPC16ENSG00000166295ENST00000299381p.R95Wc.283C>TSubstitution - Missense
PSAPENSG00000197746ENST00000394936p.R186Cc.556C>TSubstitution - Missense
ENST00000530275_v68p.S723Lc.2168C>TSubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.?c.4171-7C>GUnknown
OLFML3ENSG00000116774ENST00000320334p.R290Qc.869G>ASubstitution - Missense
SDF4ENSG00000078808ENST00000360001p.?c.913-5C>TUnknown
SDF4ENSG00000078808ENST00000263741p.R342Cc.1024C>TSubstitution - Missense
TRIM33ENSG00000197323ENST00000358465p.R180Wc.538C>TSubstitution - Missense
SYCP1ENSG00000198765ENST00000369518p.?c.801+1G>CUnknown
RPRD2ENSG00000163125ENST00000369068p.V111Ac.332T>CSubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.V111Ac.332T>CSubstitution - Missense
VPS45ENSG00000136631ENST00000369130p.?c.438+3A>CUnknown
FLGENSG00000143631ENST00000368799p.Q3365*c.10093C>TSubstitution - Nonsense
ZSCAN29ENSG00000140265ENST00000396976p.S37Ic.110G>TSubstitution - Missense
SEMA6DENSG00000137872ENST00000316364p.A453Ec.1358C>ASubstitution - Missense
SEMA6DENSG00000137872ENST00000558014p.A453Ec.1358C>ASubstitution - Missense
DUOX2ENSG00000140279ENST00000389039p.K628fs*11c.1883delADeletion - Frameshift
HSPB11ENSG00000081870ENST00000371378p.S131Sc.393C>TSubstitution - coding silent
CDCP2ENSG00000157211ENST00000371330p.S67Sc.201G>ASubstitution - coding silent
GPX7ENSG00000116157ENST00000361314p.G45Rc.133G>CSubstitution - Missense
ECHDC2ENSG00000121310ENST00000371522p.?c.753+2T>GUnknown
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
CLCA4ENSG00000016602ENST00000370563p.N251Nc.753C>TSubstitution - coding silent
PYGO1ENSG00000171016ENST00000302000p.R40Cc.118C>TSubstitution - Missense
ENST00000545858p.R82Hc.245G>ASubstitution - Missense
ENST00000414315p.R43Hc.128G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.F2149Lc.6447C>ASubstitution - Missense
SLC1A6ENSG00000105143ENST00000221742p.V483Vc.1449C>TSubstitution - coding silent
KRTAP5-7ENSG00000244411ENST00000398536p.G30Gc.90A>CSubstitution - coding silent
DFFAENSG00000160049ENST00000377038p.E143Qc.427G>CSubstitution - Missense
DFFAENSG00000160049ENST00000377036p.E143Qc.427G>CSubstitution - Missense
KCNA2ENSG00000177301ENST00000316361p.R294Cc.880C>TSubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.A1237Tc.3709G>ASubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.H309Hc.927C>TSubstitution - coding silent
IMPA1ENSG00000133731ENST00000256108p.V234Mc.700G>ASubstitution - Missense
GPR155ENSG00000163328ENST00000392551p.V793Vc.2379C>TSubstitution - coding silent
ENST00000300671p.R1516Cc.4546C>TSubstitution - Missense
DMGDHENSG00000132837ENST00000255189p.E851Kc.2551G>ASubstitution - Missense
HIST1H2BLENSG00000185130ENST00000377401p.E77Kc.229G>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000582337p.A1237Tc.3709G>ASubstitution - Missense
FAM154AENSG00000155875ENST00000380534p.E39Kc.115G>ASubstitution - Missense
OR6N2ENSG00000188340ENST00000339258p.L66Ic.196C>ASubstitution - Missense
KRTAP5-7ENSG00000244411ENST00000398536p.G78Gc.234C>TSubstitution - coding silent
NM_004667.3p.A4322Tc.12964G>ASubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.R153Wc.457C>TSubstitution - Missense
NR0B1ENSG00000169297ENST00000378970p.R51Kc.152G>ASubstitution - Missense
NSL1ENSG00000117697ENST00000366977p.L205Lc.615C>GSubstitution - coding silent
ECE1ENSG00000117298ENST00000357071p.F439Fc.1317T>CSubstitution - coding silent
MAP3K12ENSG00000139625ENST00000267079p.E487*c.1459G>TSubstitution - Nonsense
NCKAP1LENSG00000123338ENST00000293373p.S624Sc.1872C>TSubstitution - coding silent
TAS2R46ENSG00000226761ENST00000533467p.L64*c.191T>GSubstitution - Nonsense
ENST00000381852p.?c.36+6T>AUnknown
KIF1BENSG00000054523ENST00000263934p.V370Ec.1109T>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.E1089Kc.3265G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.E1089Kc.3265G>ASubstitution - Missense
BROXENSG00000162819ENST00000340934p.L96Fc.288G>TSubstitution - Missense
RAB3GAP2ENSG00000118873ENST00000358951p.V532Vc.1596G>CSubstitution - coding silent
ADCK3ENSG00000163050ENST00000366779p.M613Vc.1837A>GSubstitution - Missense
NM_020247p.M334Vc.1000A>GSubstitution - Missense
ENST00000371829p.G45Gc.135A>TSubstitution - coding silent
TIRAPENSG00000150455ENST00000392679p.R143Qc.428G>ASubstitution - Missense
F2ENSG00000180210ENST00000311907p.S203Nc.608G>ASubstitution - Missense
GPATCH4ENSG00000160818ENST00000368232p.G290Ec.869G>ASubstitution - Missense
CELA2AENSG00000142615ENST00000359621p.S264Sc.792G>ASubstitution - coding silent
R3HDM2ENSG00000179912ENST00000441731p.P104Pc.312G>ASubstitution - coding silent
ACSS3ENSG00000111058ENST00000548058p.A585Ac.1755T>CSubstitution - coding silent
A2ML1ENSG00000166535ENST00000299698p.S490Tc.1468T>ASubstitution - Missense
CHFRENSG00000072609ENST00000315585p.E361Kc.1081G>ASubstitution - Missense
STRAPENSG00000023734ENST00000419869p.I52Tc.155T>CSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.R3707Qc.11120G>ASubstitution - Missense
GOLGA6L4ENSG00000184206ENST00000510439p.D164fs*6c.488delADeletion - Frameshift
SLC28A1ENSG00000156222ENST00000286749p.S421Sc.1263C>TSubstitution - coding silent
SLC28A1ENSG00000156222ENST00000537624p.S421Sc.1263C>TSubstitution - coding silent
GPR26ENSG00000154478ENST00000284674p.G325Gc.975C>TSubstitution - coding silent
ENST00000368643p.S141*c.422C>ASubstitution - Nonsense
ENST00000368577p.D444Dc.1332C>TSubstitution - coding silent
GPR123ENSG00000197177ENST00000392607p.L290Vc.868C>GSubstitution - Missense
ADARB2ENSG00000185736ENST00000381312p.G95Cc.283G>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.L1644Qc.4931T>ASubstitution - Missense
CHD8ENSG00000100888ENST00000399982p.S2220Gc.6658A>GSubstitution - Missense
DHRS4L2ENSG00000187630ENST00000382755p.T243Sc.727A>TSubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.?c.1002+3G>CUnknown
RNF31ENSG00000092098ENST00000324103p.P135Pc.405C>ASubstitution - coding silent
DAKENSG00000149476ENST00000394900p.I67Tc.200T>CSubstitution - Missense
TMEM216ENSG00000187049ENST00000515837p.L48Pc.143T>CSubstitution - Missense


COSMIC

0 mutations reported
0 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