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Copy Number Variation
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CESS - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

684 mutations reported
283 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
KCNIP4ENSG00000185774ENST00000447367p.T31Tc.93C>TSubstitution - coding silent
EEF1A1ENSG00000156508ENST00000316292p.K41Ec.121A>GSubstitution - Missense
ENST00000420871_v68p.N857Kc.2571T>ASubstitution - Missense
NEFMENSG00000104722ENST00000221166p.P499Pc.1497C>ASubstitution - coding silent
FAM208AENSG00000163946ENST00000355628p.V937Gc.2810T>GSubstitution - Missense
AQP7ENSG00000165269ENST00000297988p.V55Mc.163G>ASubstitution - Missense
DMTNENSG00000158856ENST00000358242p.P344Pc.1032C>GSubstitution - coding silent
CCDC142ENSG00000135637ENST00000393965p.?c.1021+4_1021+16delagtgatgggcttgUnknown
SLC35A3ENSG00000117620ENST00000370153p.G297Gc.891C>TSubstitution - coding silent
FZD2ENSG00000180340ENST00000315323p.R219Cc.655C>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.I682Ic.2046C>TSubstitution - coding silent
COL6A3ENSG00000163359ENST00000392004p.I1117Ic.3351C>TSubstitution - coding silent
LRRC14BENSG00000185028ENST00000328278p.L366Pc.1097T>CSubstitution - Missense
SYPENSG00000102003ENST00000263233p.R194Kc.581G>ASubstitution - Missense
NIF3L1ENSG00000196290ENST00000409020p.T107Tc.321A>GSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.R1078Wc.3232C>TSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.Q677Qc.2031A>GSubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.S35Gc.103A>GSubstitution - Missense
HSF1ENSG00000185122ENST00000528838p.S458Ic.1373G>TSubstitution - Missense
KRTAP10-4ENSG00000215454ENST00000400374p.C115Yc.344G>ASubstitution - Missense
DOK5ENSG00000101134ENST00000262593p.T91Tc.273T>ASubstitution - coding silent
ZNFX1ENSG00000124201ENST00000371752p.E1133Kc.3397G>ASubstitution - Missense
CCDC18ENSG00000122483ENST00000334652p.E729Gc.2186A>GSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.S686Sc.2058T>ASubstitution - coding silent
ACOT2ENSG00000119673ENST00000238651p.M21Tc.62T>CSubstitution - Missense
ENST00000319748p.D69Gc.206A>GSubstitution - Missense
NM_138995p.L856Fc.2566C>TSubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.G1336Gc.4008G>ASubstitution - coding silent
ENST00000274705p.S272Rc.816C>GSubstitution - Missense
USP32ENSG00000170832ENST00000300896p.H555Hc.1665T>CSubstitution - coding silent
USP6ENSG00000129204ENST00000250066p.H142Yc.424C>TSubstitution - Missense
CCDC110ENSG00000168491ENST00000307588p.E674Kc.2020G>ASubstitution - Missense
TSPYL4ENSG00000187189ENST00000420283p.P304Pc.912C>TSubstitution - coding silent
PRKAR2AENSG00000114302ENST00000265563p.G403Rc.1207G>ASubstitution - Missense
DPPA4ENSG00000121570ENST00000335658p.?c.54+8C>TUnknown
PCLOENSG00000186472ENST00000333891p.I2401Lc.7201A>TSubstitution - Missense
HADHAENSG00000084754ENST00000380649p.*764Rc.2290T>CNonstop extension
MICAL3ENSG00000243156ENST00000441493p.T1276Pc.3826A>CSubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.L650Lc.1950T>ASubstitution - coding silent
ABCG1ENSG00000160179ENST00000398437p.?c.1026+5G>AUnknown
PDE7AENSG00000205268ENST00000379419p.S181Rc.541A>CSubstitution - Missense
KLHL13ENSG00000003096ENST00000262820p.?c.99-10A>CUnknown
MYCBPAPENSG00000136449ENST00000323776p.R549Gc.1645A>GSubstitution - Missense
SEC61A2ENSG00000065665ENST00000457034p.*95*c.284A>GSubstitution - coding silent
ABCF3ENSG00000161204ENST00000429586p.C522Cc.1566T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.I2401Lc.7201A>TSubstitution - Missense
SONENSG00000159140ENST00000290239p.T1133Sc.3398C>GSubstitution - Missense
PTPRSENSG00000105426ENST00000372412p.G663Gc.1989C>ASubstitution - coding silent
STK32CENSG00000165752ENST00000456004p.R18Kc.53G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.R760Hc.2279G>ASubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.L1788Lc.5364G>ASubstitution - coding silent
NUP188ENSG00000095319ENST00000372577p.S1025Fc.3074C>TSubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.?c.698-9A>GUnknown
LY6G6CENSG00000204421ENST00000375819p.D35Dc.105C>TSubstitution - coding silent
ZNF112ENSG00000062370ENST00000337401p.S316Sc.948A>GSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.I1473Tc.4418T>CSubstitution - Missense
FAM193AENSG00000125386ENST00000382839p.H984Rc.2951A>GSubstitution - Missense
POLKENSG00000122008ENST00000241436p.R246*c.736C>TSubstitution - Nonsense
GLP1RENSG00000112164ENST00000373256p.P54Pc.162A>CSubstitution - coding silent
PRCPENSG00000137509ENST00000313010p.?c.310-6T>CUnknown
ABL2ENSG00000143322ENST00000512653p.T235Ac.703A>GSubstitution - Missense
LYVE1ENSG00000133800ENST00000256178p.E306Qc.916G>CSubstitution - Missense
PANK4ENSG00000157881ENST00000378466p.I217Ic.651T>CSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.G2671Ec.8012G>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.G2671Ec.8012G>ASubstitution - Missense
FAM90A1ENSG00000171847ENST00000307435p.R238Gc.712C>GSubstitution - Missense
AQP7ENSG00000165269ENST00000379507p.V54Mc.160G>ASubstitution - Missense
DENND5BENSG00000170456ENST00000306833p.V1184Vc.3552C>TSubstitution - coding silent
ENST00000248668_v71p.P178Pc.534G>CSubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.Y711Cc.2132A>GSubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.D1514Ec.4542C>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.I2401Lc.7201A>TSubstitution - Missense
TET3ENSG00000187605ENST00000409262p.R319Hc.956G>ASubstitution - Missense
ENST00000405167p.G2412Sc.7234G>ASubstitution - Missense
ABI2ENSG00000138443ENST00000295851p.P335Tc.1003C>ASubstitution - Missense
SCRN3ENSG00000144306ENST00000272732p.G238Dc.713G>ASubstitution - Missense
NM_007332.1p.R996Hc.2987G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.N1606Kc.4818T>ASubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.Q680Qc.2040G>ASubstitution - coding silent
PTPRBENSG00000127329ENST00000334414p.Q2141Kc.6421C>ASubstitution - Missense
ENST00000440800p.D173Nc.517G>ASubstitution - Missense
MRPL16ENSG00000166902ENST00000300151p.R166Hc.497G>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.G1725Dc.5174G>ASubstitution - Missense
DGKZENSG00000149091ENST00000454345p.?c.3137+1G>CUnknown
USP15ENSG00000135655ENST00000393654p.L484Fc.1452G>TSubstitution - Missense
MORN1ENSG00000116151ENST00000449373p.R145Qc.434G>ASubstitution - Missense
ENST00000316490p.M3391Tc.10172T>CSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.R1181Hc.3542G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.R1181Hc.3542G>ASubstitution - Missense
KCNIP4ENSG00000185774ENST00000382152p.T65Tc.195C>TSubstitution - coding silent
RBFOX2ENSG00000100320ENST00000405409p.V44Lc.130G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.P1321Sc.3961C>TSubstitution - Missense
CREB5ENSG00000146592ENST00000357727p.P15Pc.45G>ASubstitution - coding silent
CDH10ENSG00000040731ENST00000264463p.E349Ec.1047A>GSubstitution - coding silent
SU_NEK10p.I753Mc.2259C>GSubstitution - Missense
NEK10ENSG00000163491ENST00000357467p.I150Mc.450C>GSubstitution - Missense
ENSG00000173213ENST00000308911p.E401Kc.1201G>ASubstitution - Missense
ENST00000436173p.Q2359Qc.7077G>ASubstitution - coding silent
CCDC180ENSG00000197816ENST00000375202p.R1360Qc.4079G>ASubstitution - Missense
POMGNT1ENSG00000085998ENST00000371992p.A43Ac.129C>TSubstitution - coding silent
KIAA0754ENSG00000255103ENST00000530275p.P1030Pc.3090C>ASubstitution - coding silent
OR10AD1ENSG00000172640ENST00000310248p.R24Qc.71G>ASubstitution - Missense
ALDH18A1ENSG00000059573ENST00000371224p.R456Rc.1368C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.S3729Rc.11187T>ASubstitution - Missense
SOAT2ENSG00000167780ENST00000301466p.E46Ac.137A>CSubstitution - Missense
C2ENSG00000166278ENST00000299367p.R88Hc.263G>ASubstitution - Missense
RASL11BENSG00000128045ENST00000248706p.P16Pc.48G>ASubstitution - coding silent
PKD2L2ENSG00000078795ENST00000290431p.T539Ic.1616C>TSubstitution - Missense
PRNDENSG00000171864ENST00000305817p.R37Qc.110G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
ENST00000346816p.R652Hc.1955G>ASubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.L1936Lc.5808G>TSubstitution - coding silent
GRM3ENSG00000198822ENST00000361669p.S491Sc.1473G>ASubstitution - coding silent
LIFENSG00000128342ENST00000249075p.D165Dc.495C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.G662Gc.1986C>ASubstitution - coding silent
LDLRAD4ENSG00000168675ENST00000361205p.A122Ac.366C>ASubstitution - coding silent
RRP9ENSG00000114767ENST00000232888p.I184Vc.550A>GSubstitution - Missense
PDXKENSG00000160209ENST00000291565p.V128Ic.382G>ASubstitution - Missense
FAM120AENSG00000048828ENST00000375389p.P263Sc.787C>TSubstitution - Missense
TOMM20LENSG00000196860ENST00000360945p.T117fs*7c.345_346delACDeletion - Frameshift
ZC3H14ENSG00000100722ENST00000251038p.S409Sc.1227T>CSubstitution - coding silent
PRCPENSG00000137509ENST00000393399p.?c.373-6T>CUnknown
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
CHRDL2ENSG00000054938ENST00000263671p.S424fs*22c.1270_1279del10Deletion - Frameshift
MUC5BENSG00000117983ENST00000529681p.T4372Sc.13114A>TSubstitution - Missense
WDR62ENSG00000075702ENST00000388999p.S445Rc.1335C>ASubstitution - Missense
NNTENSG00000112992ENST00000264663p.N648Nc.1944T>CSubstitution - coding silent
LMAN2ENSG00000169223ENST00000303127p.P73Rc.218C>GSubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.S445Rc.1335C>ASubstitution - Missense
RBFOX2ENSG00000100320ENST00000438146p.V114Lc.340G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.C3005Cc.9015C>TSubstitution - coding silent
ECT2LENSG00000203734ENST00000367682p.?c.2028+4A>CUnknown
ENST00000376951p.Q688*c.2062C>TSubstitution - Nonsense
MYH8ENSG00000133020ENST00000403437p.R1848Qc.5543G>ASubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.V947Ic.2839G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.E1133Kc.3397G>ASubstitution - Missense
AFMIDENSG00000183077ENST00000327898p.V203Mc.607G>ASubstitution - Missense
ATG4CENSG00000125703ENST00000371120p.T429Tc.1287A>GSubstitution - coding silent
ADCK1ENSG00000063761ENST00000238561p.T434Sc.1301C>GSubstitution - Missense
TIE1ENSG00000066056ENST00000372476p.G804Gc.2412C>TSubstitution - coding silent
CCDC88BENSG00000168071ENST00000359902p.?c.1290-9T>CUnknown
CSMD2ENSG00000121904ENST00000373381p.R1609Wc.4825C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.?c.115-7C>AUnknown
TMBIM6ENSG00000139644ENST00000423828p.?c.788+8T>CUnknown
ENST00000349637p.T4327Sc.12979A>TSubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.A1030Sc.3088G>TSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.G69Gc.207A>TSubstitution - coding silent
WDR34ENSG00000119333ENST00000451652p.H121Hc.363C>TSubstitution - coding silent
ADAMTS2ENSG00000087116ENST00000274609p.?c.892-10T>CUnknown
USP15ENSG00000135655ENST00000280377p.L509Fc.1527G>TSubstitution - Missense
CHRDENSG00000090539ENST00000204604p.S448Rc.1344T>GSubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.N220Kc.660T>ASubstitution - Missense
LPAENSG00000198670ENST00000316300p.T843Tc.2529T>ASubstitution - coding silent
AURKCENSG00000105146ENST00000448930p.?c.194+2T>CUnknown
YIPF7ENSG00000177752ENST00000332990p.V158Ic.472G>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000398457p.?c.594+5G>AUnknown
MCOLN1ENSG00000090674ENST00000264079p.I99Ic.297C>ASubstitution - coding silent
FBXL16ENSG00000127585ENST00000397621p.?c.1143-3C>TUnknown
EXOC3L4ENSG00000205436ENST00000380069p.L127Lc.379C>TSubstitution - coding silent
RIC8BENSG00000111785ENST00000355478p.R371Hc.1112G>ASubstitution - Missense
EFCAB8ENSG00000215529ENST00000457731p.R60Cc.178C>TSubstitution - Missense
HKDC1ENSG00000156510ENST00000354624p.A45Tc.133G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.P1127Sc.3379C>TSubstitution - Missense
AKAP1ENSG00000121057ENST00000337714p.I272Ic.816C>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.Q6239Hc.18717A>CSubstitution - Missense
LRFN1ENSG00000128011ENST00000248668p.P130Pc.390G>CSubstitution - coding silent
ZNF599ENSG00000153896ENST00000329285p.R307Qc.920G>ASubstitution - Missense
NM_005158p.T214Ac.640A>GSubstitution - Missense
THUMPD1ENSG00000066654ENST00000381337p.A124Tc.370G>ASubstitution - Missense
PI4K2AENSG00000155252ENST00000555577p.Q86Ec.256C>GSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.G2209Rc.6625G>ASubstitution - Missense
NM_015057.1p.G2171Rc.6511G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.N23401Nc.70203C>TSubstitution - coding silent
SDCCAG8ENSG00000054282ENST00000366541p.Q491Rc.1472A>GSubstitution - Missense
ENST00000291050p.V524Mc.1570G>ASubstitution - Missense
GPR107ENSG00000148358ENST00000372406p.?c.255+36_527-1085del6696Unknown
PAQR8ENSG00000170915ENST00000442253p.V228Lc.682G>CSubstitution - Missense
MAP3K10ENSG00000130758ENST00000253055p.P272Pc.816G>ASubstitution - coding silent
CAPN12ENSG00000182472ENST00000328867p.D397Dc.1191C>TSubstitution - coding silent
COG5ENSG00000164597ENST00000297135p.Y78Yc.234T>CSubstitution - coding silent
ATP4AENSG00000105675ENST00000262623p.T264Tc.792C>TSubstitution - coding silent
CCDC80ENSG00000091986ENST00000206423p.R642Cc.1924C>TSubstitution - Missense
ENSG00000172901ENST00000357872p.D812Ec.2436T>ASubstitution - Missense
ZSCAN5CENSG00000204532ENST00000534327p.S180Rc.540C>GSubstitution - Missense
GAL3ST2ENSG00000154252ENST00000192314p.L57Pc.170T>CSubstitution - Missense
KIAA1875ENSG00000179698ENST00000323662p.?c.879-10C>TUnknown
ENST00000357934p.S943Yc.2828C>ASubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.?c.1922-9T>AUnknown
ANKRD36CENSG00000174501ENST00000456556p.?c.2274+5_2274+8delttaaUnknown
DNAH9ENSG00000007174ENST00000262442p.?c.9934-3C>TUnknown
ARHGAP11AENSG00000198826ENST00000361627p.K279Rc.836A>GSubstitution - Missense
OTUB2ENSG00000089723ENST00000203664p.V196Vc.588G>TSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000375408p.S694Sc.2082C>TSubstitution - coding silent
SHANK2ENSG00000162105ENST00000423696p.G791Rc.2371G>ASubstitution - Missense
RHBDL1ENSG00000103269ENST00000219551p.E120Ec.360G>ASubstitution - coding silent
AXLENSG00000167601ENST00000301178p.D841Ec.2523C>ASubstitution - Missense
FABP6ENSG00000170231ENST00000402432p.G56Vc.167G>TSubstitution - Missense
GSTK1ENSG00000197448ENST00000358406p.R128Rc.384G>ASubstitution - coding silent
ENST00000316490_v65p.P2620Lc.7859C>TSubstitution - Missense
THEGENSG00000105549ENST00000342640p.V140Vc.420C>GSubstitution - coding silent
PLEKHH3ENSG00000068137ENST00000293349p.?c.2205+9G>AUnknown
NPHP3ENSG00000113971ENST00000337331p.P1024Ac.3070C>GSubstitution - Missense
PDIA2ENSG00000185615ENST00000219406p.A358Ac.1074G>ASubstitution - coding silent
ENST00000357934p.M940Ic.2820G>ASubstitution - Missense
WDR83OSENSG00000105583ENST00000222190p.E24Kc.70G>ASubstitution - Missense
ZNF878ENSG00000257446ENST00000602107p.S295Tc.884G>CSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000360348p.D440Nc.1318G>ASubstitution - Missense
TMEM201ENSG00000188807ENST00000340381p.F660Lc.1978T>CSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.S863Sc.2589T>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.H303Rc.908A>GSubstitution - Missense
DENND5BENSG00000170456ENST00000389082p.V1149Vc.3447C>TSubstitution - coding silent
NT5C1AENSG00000116981ENST00000235628p.R356Qc.1067G>ASubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.D3520Yc.10558G>TSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.S139Sc.417T>CSubstitution - coding silent
CUEDC1ENSG00000180891ENST00000577830p.P110Lc.329C>TSubstitution - Missense
MEI1ENSG00000167077ENST00000300398p.?c.1_2insGAUnknown
ICAM1ENSG00000090339ENST00000264832p.D450Nc.1348G>ASubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.P379Pc.1137G>ASubstitution - coding silent
DHDHENSG00000104808ENST00000221403p.R37Rc.111C>TSubstitution - coding silent
ABCA2ENSG00000107331ENST00000341511p.S1759Sc.5277C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.G2412Sc.7234G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.N17096Nc.51288C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.L1740Sc.5219T>CSubstitution - Missense
ABCG1ENSG00000160179ENST00000361802p.?c.588+5G>AUnknown
CHST8ENSG00000124302ENST00000262622p.P84Lc.251C>TSubstitution - Missense
YEATS4ENSG00000127337ENST00000247843p.K17Tc.50A>CSubstitution - Missense
ABL2ENSG00000143322ENST00000502732p.T250Ac.748A>GSubstitution - Missense
ATF7IP2ENSG00000166669ENST00000396560p.S525Sc.1575A>GSubstitution - coding silent
IFT43ENSG00000119650ENST00000314067p.E108Kc.322G>ASubstitution - Missense
SMPD1ENSG00000166311ENST00000299397p.A346Ac.1038G>ASubstitution - coding silent
KIF20BENSG00000138182ENST00000416354p.A1100Sc.3298G>TSubstitution - Missense
SU_OBSCN.1p.T1001Mc.3002C>TSubstitution - Missense
TENC1ENSG00000111077ENST00000314276p.V174Vc.522G>ASubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.G2171Rc.6511G>ASubstitution - Missense
TUBA1CENSG00000167553ENST00000301072p.D218Nc.652G>ASubstitution - Missense
NGLY1ENSG00000151092ENST00000428257p.R412Kc.1235G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.Q7940Hc.23820A>CSubstitution - Missense
ENST00000571252_v68p.V757Vc.2271C>GSubstitution - coding silent
ZNF445ENSG00000185219ENST00000396077p.G21Ec.62G>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.I243Ic.729C>TSubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.G2062Dc.6185G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.T1506Ic.4517C>TSubstitution - Missense
SEC14L3ENSG00000100012ENST00000215812p.M390Vc.1168A>GSubstitution - Missense
ENST00000398685p.R227Gc.679C>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.P1204Lc.3611C>TSubstitution - Missense
ENSG00000175604ENST00000312019p.R54Cc.160C>TSubstitution - Missense
SMPD1ENSG00000166311ENST00000342245p.A346Ac.1038G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.T1001Mc.3002C>TSubstitution - Missense
DDX41ENSG00000183258ENST00000507955p.I215Tc.644T>CSubstitution - Missense
CAMK2BENSG00000058404ENST00000395749p.D389Dc.1167C>TSubstitution - coding silent
NUDCD3ENSG00000015676ENST00000355451p.V29Ic.85G>ASubstitution - Missense
ACACAENSG00000132142ENST00000353139p.H1944Rc.5831A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.C2998Cc.8994C>TSubstitution - coding silent
MAML1ENSG00000161021ENST00000292599p.Q651*c.1951C>TSubstitution - Nonsense
IQCJ-SCHIP1ENSG00000250588ENST00000485419p.M538Ic.1614G>TSubstitution - Missense
CNOT1ENSG00000125107ENST00000317147p.K2336Kc.7008G>ASubstitution - coding silent
APCENSG00000134982ENST00000457016p.L1713Sc.5138T>CSubstitution - Missense
OTOFENSG00000115155ENST00000272371p.?c.3289-1G>CUnknown
OTOFENSG00000115155ENST00000402415p.?c.1219-1G>CUnknown
TTC30AENSG00000197557ENST00000355689p.L74Lc.222G>CSubstitution - coding silent
NM_003319p.N16904Nc.50712C>TSubstitution - coding silent
NM_004260.1p.T1044Tc.3132C>TSubstitution - coding silent
WDR4ENSG00000160193ENST00000398208p.?c.791+9C>TUnknown
PDXKENSG00000160209ENST00000291565p.V128Ic.382G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.I681Ic.2043C>TSubstitution - coding silent
ENSG00000204814ENST00000377548p.A7Vc.20C>TSubstitution - Missense
EVPLENSG00000167880ENST00000301607p.E1750Kc.5248G>ASubstitution - Missense
ENST00000356067p.S907Yc.2720C>ASubstitution - Missense
LRIG1ENSG00000144749ENST00000383703p.L141Lc.423A>GSubstitution - coding silent
NBNENSG00000104320ENST00000265433p.T60Kc.179C>ASubstitution - Missense
GPR37L1ENSG00000170075ENST00000367282p.A35Ac.105C>ASubstitution - coding silent
C11orf82ENSG00000165490ENST00000430323p.G579Ec.1736G>ASubstitution - Missense
PTGR2ENSG00000140043ENST00000267568p.Q38Ec.112C>GSubstitution - Missense
ENST00000395293p.L1071Lc.3213G>TSubstitution - coding silent
SCNN1DENSG00000162572ENST00000379116p.S363Lc.1088C>TSubstitution - Missense
HIST2H2BEENSG00000184678ENST00000369155p.K86Nc.258G>TSubstitution - Missense
PACS2ENSG00000179364ENST00000325438p.?c.1989-5C>TUnknown
GRIK4ENSG00000149403ENST00000527524p.A318Ac.954G>ASubstitution - coding silent
GIT2ENSG00000139436ENST00000355312p.N472Nc.1416T>CSubstitution - coding silent
AXLENSG00000167601ENST00000359092p.D832Ec.2496C>ASubstitution - Missense
NRCAMENSG00000091129ENST00000379028p.P1091Pc.3273A>GSubstitution - coding silent
NOP14ENSG00000087269ENST00000314262p.I517Ic.1551C>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.I1323Ic.3969C>TSubstitution - coding silent
GK2ENSG00000196475ENST00000358842p.G19Sc.55G>ASubstitution - Missense
EMC3ENSG00000125037ENST00000245046p.D245Vc.734A>TSubstitution - Missense
LDLRAD4ENSG00000168675ENST00000359446p.A85Ac.255C>ASubstitution - coding silent
MOCS3ENSG00000124217ENST00000244051p.A349Ec.1046C>ASubstitution - Missense
ATG4CENSG00000125703ENST00000317868p.T429Tc.1287A>GSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.P1204Lc.3611C>TSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.P317Lc.950C>TSubstitution - Missense
KNDC1ENSG00000171798ENST00000304613p.G1340Rc.4018G>ASubstitution - Missense
DGKZENSG00000149091ENST00000343674p.?c.2621+1G>CUnknown
OBSCNENSG00000154358ENST00000570156p.T1001Mc.3002C>TSubstitution - Missense
TLL2ENSG00000095587ENST00000357947p.A350Ac.1050G>CSubstitution - coding silent
MAST4ENSG00000069020ENST00000403666p.P1132Sc.3394C>TSubstitution - Missense
STK32CENSG00000165752ENST00000368619p.R16Kc.47G>ASubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.L856Fc.2566C>TSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.G431Gc.1293C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.S824Ac.2470T>GSubstitution - Missense
SLC24A2ENSG00000155886ENST00000341998p.A622Tc.1864G>ASubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.S1053Sc.3159C>TSubstitution - coding silent
ZNF112ENSG00000062370ENST00000536500p.S333Sc.999A>GSubstitution - coding silent
NOP14ENSG00000087269ENST00000398071p.I517Ic.1551C>ASubstitution - coding silent
FAM193AENSG00000125386ENST00000324666p.H984Rc.2951A>GSubstitution - Missense
ETV5ENSG00000244405ENST00000537818p.D372Nc.1114G>ASubstitution - Missense
ENST00000421660p.K758Nc.2274A>TSubstitution - Missense
C2orf54ENSG00000172478ENST00000307486p.G67Rc.199G>ASubstitution - Missense
KANK3ENSG00000186994ENST00000593649p.A727Ac.2181G>ASubstitution - coding silent
AKAP1ENSG00000121057ENST00000314126p.I272Ic.816C>TSubstitution - coding silent
RHBDL1ENSG00000103269ENST00000352681p.E55Ec.165G>ASubstitution - coding silent
RANBP10ENSG00000141084ENST00000448631p.D379Vc.1136A>TSubstitution - Missense
SRSF10ENSG00000188529ENST00000344989p.R62Rc.186T>CSubstitution - coding silent
SRSF10ENSG00000188529ENST00000374452p.R62Rc.186T>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.G2738*c.8212G>TSubstitution - Nonsense
ENST00000367531p.Q680Qc.2040G>ASubstitution - coding silent
ABL2ENSG00000143322ENST00000392043p.T229Ac.685A>GSubstitution - Missense
METTL13ENSG00000010165ENST00000361735p.Q342Qc.1026G>ASubstitution - coding silent
RUNX1T1ENSG00000079102ENST00000436581p.D488Nc.1462G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.P1204_Q1209delPPTTPQc.3611_3628del18Deletion - In frame
HRNRENSG00000197915ENST00000368801p.?c.139-10T>CUnknown
RBM14ENSG00000239306ENST00000310137p.S182_F198del17c.532_582del51Deletion - In frame
FANCIENSG00000140525ENST00000310775p.S78Lc.233C>TSubstitution - Missense
YOD1ENSG00000180667ENST00000367084p.S96Sc.288T>CSubstitution - coding silent
CALN1ENSG00000183166ENST00000395275p.E70Kc.208G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.R1569Wc.4705C>TSubstitution - Missense
KLHL13ENSG00000003096ENST00000539496p.?c.108-10A>CUnknown
FAM120AENSG00000048828ENST00000333936p.P263Sc.787C>TSubstitution - Missense
AQP7ENSG00000165269ENST00000539936p.V55Mc.163G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.R1052Wc.3154C>TSubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.R996Hc.2987G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.C3005Cc.9015C>TSubstitution - coding silent
PKD2L2ENSG00000078795ENST00000508883p.T539Ic.1616C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.I1211Tc.3632T>CSubstitution - Missense
AQP7ENSG00000165269ENST00000379503p.?c.76+10G>TUnknown
NM_019888.2p.F216Sc.647T>CSubstitution - Missense
SLC25A21ENSG00000183032ENST00000331299p.N298Kc.894C>ASubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.P1127Qc.3380C>ASubstitution - Missense
IDH2ENSG00000182054ENST00000330062p.I240Vc.718A>GSubstitution - Missense
SCNN1DENSG00000162572ENST00000338555p.S199Lc.596C>TSubstitution - Missense
ADAM30ENSG00000134249ENST00000369400p.G114Dc.341G>ASubstitution - Missense
ENST00000432996p.?c.2202+1G>TUnknown
ZSWIM8ENSG00000214655ENST00000398706p.E911Dc.2733G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.C3037Cc.9111C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.S3729Rc.11187T>ASubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.D330Nc.988G>ASubstitution - Missense
DIAPH1ENSG00000131504ENST00000398557p.S1051Fc.3152C>TSubstitution - Missense
TAGAPENSG00000164691ENST00000367066p.E177Ec.531G>ASubstitution - coding silent
GRM6ENSG00000113262ENST00000231188p.S191Sc.573C>ASubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.K1825Ec.5473A>GSubstitution - Missense
LILRB5ENSG00000105609ENST00000316219p.S302Yc.905C>ASubstitution - Missense
DDX11ENSG00000013573ENST00000407793p.I392Ic.1176C>TSubstitution - coding silent
FZD10ENSG00000111432ENST00000229030p.S306Ic.917G>TSubstitution - Missense
FDXACB1ENSG00000255561ENST00000260257p.P534Pc.1602A>CSubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.L422Lc.1264C>TSubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.L422Lc.1264C>TSubstitution - coding silent
FUT11ENSG00000196968ENST00000372841p.T476Mc.1427C>TSubstitution - Missense
CCSER2ENSG00000107771ENST00000372088p.S162Lc.485C>TSubstitution - Missense
CYP11A1ENSG00000140459ENST00000268053p.P503Lc.1508C>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.R736Hc.2207G>ASubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.R512Gc.1534A>GSubstitution - Missense
GIT2ENSG00000139436ENST00000343646p.N392Nc.1176T>CSubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.G240Gc.720C>TSubstitution - coding silent
ENST00000373926p.N262Nc.786C>TSubstitution - coding silent
MMS22LENSG00000146263ENST00000275053p.N66Tc.197A>CSubstitution - Missense
TRMT11ENSG00000066651ENST00000334379p.?c.926-10T>GUnknown
FAM184AENSG00000111879ENST00000338891p.E514Dc.1542A>CSubstitution - Missense
ENST00000409686p.I122Ic.366C>TSubstitution - coding silent
ENST00000357132p.Q76Ec.226C>GSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.S824Ac.2470T>GSubstitution - Missense
GSTK1ENSG00000197448ENST00000479303p.R128Rc.384G>ASubstitution - coding silent
NRCAMENSG00000091129ENST00000379022p.P1091Pc.3273A>GSubstitution - coding silent
PIK3CGENSG00000105851ENST00000440650p.R49Sc.145C>ASubstitution - Missense
LST1ENSG00000204482ENST00000376111p.W60*c.180G>ASubstitution - Nonsense
NCR3ENSG00000204475ENST00000340027p.H193Hc.579T>CSubstitution - coding silent
CCHCR1ENSG00000204536ENST00000396268p.L797Lc.2391A>GSubstitution - coding silent
CCHCR1ENSG00000204536ENST00000376266p.L708Lc.2124A>GSubstitution - coding silent
FABP6ENSG00000170231ENST00000393980p.G105Vc.314G>TSubstitution - Missense
FAM71BENSG00000170613ENST00000302938p.R148Cc.442C>TSubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.E11Qc.31G>CSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.P616Pc.1848C>TSubstitution - coding silent
AGTPBP1ENSG00000135049ENST00000376083p.N431Dc.1291A>GSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.N471Dc.1411A>GSubstitution - Missense
PTPRDENSG00000153707ENST00000355233p.R770Hc.2309G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000537002p.R767Hc.2300G>ASubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.Y837Yc.2511T>CSubstitution - coding silent
NM_138995p.Y837Yc.2511T>CSubstitution - coding silent
PPIGENSG00000138398ENST00000260970p.G84Gc.252A>CSubstitution - coding silent
SLC7A4ENSG00000099960ENST00000382932p.R536Wc.1606C>TSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
PSMG3ENSG00000157778ENST00000288607p.V15Vc.45G>CSubstitution - coding silent
NM_007349.2p.C73*c.219C>ASubstitution - Nonsense
LPHN3ENSG00000150471ENST00000514591p.I1152Tc.3455T>CSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.I1152Tc.3455T>CSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.I1152Tc.3455T>CSubstitution - Missense
NEBENSG00000183091ENST00000397345p.Q7940Hc.23820A>CSubstitution - Missense
ZNF334ENSG00000198185ENST00000347606p.R32Sc.96G>TSubstitution - Missense
RBPJLENSG00000124232ENST00000343694p.?c.131+5C>TUnknown
ENSG00000167674ENST00000301284p.R435Qc.1304G>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.S316Sc.948A>GSubstitution - coding silent
IRGQENSG00000167378ENST00000422989p.E417Vc.1250A>TSubstitution - Missense
ERFENSG00000105722ENST00000222329p.S431Lc.1292C>TSubstitution - Missense
ZSWIM4ENSG00000132003ENST00000254323p.R147Hc.440G>ASubstitution - Missense
ENST00000316490p.P2572Lc.7715C>TSubstitution - Missense
ENST00000316490_v65p.M3439Tc.10316T>CSubstitution - Missense
ENST00000545759p.R140Wc.418C>TSubstitution - Missense
C11orf31ENSG00000211450ENST00000388857p.P101Ac.301C>GSubstitution - Missense
TNKS1BP1ENSG00000149115ENST00000358252p.S261Sc.783G>ASubstitution - coding silent
ENST00000334956_v70p.?c.1089+8G>AUnknown
KNDC1ENSG00000171798ENST00000368572p.G1342Rc.4024G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.G240Gc.720C>TSubstitution - coding silent
ENST00000368915p.G240Gc.720C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
ARPP21ENSG00000172995ENST00000458225p.R476Qc.1427G>ASubstitution - Missense
LEMD2ENSG00000161904ENST00000293760p.R362Cc.1084C>TSubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.H248Dc.742C>GSubstitution - Missense
DDX41ENSG00000183258ENST00000507955p.R8Wc.22C>TSubstitution - Missense
ATP13A4ENSG00000127249ENST00000342695p.V255Ic.763G>ASubstitution - Missense
ATP13A4ENSG00000127249ENST00000295548p.V255Ic.763G>ASubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.D330Nc.988G>ASubstitution - Missense
ENST00000342610p.S161Rc.483T>GSubstitution - Missense
YEATS2ENSG00000163872ENST00000305135p.K758Nc.2274A>TSubstitution - Missense
ASS1ENSG00000130707ENST00000372393p.G5Vc.14G>TSubstitution - Missense
GPR107ENSG00000148358ENST00000347136p.?c.255+36_527-1085del6696Unknown
WDR34ENSG00000119333ENST00000372715p.H130Hc.390C>TSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372739p.?c.5044-4C>TUnknown
SPTAN1ENSG00000197694ENST00000372731p.?c.5029-4C>TUnknown
COL22A1ENSG00000169436ENST00000303045p.R76Cc.226C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.P1142Sc.3424C>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.V2133Ac.6398T>CSubstitution - Missense
NFAM1ENSG00000235568ENST00000329021p.L184Lc.552G>ASubstitution - coding silent
ENST00000358511_v70p.G2062Dc.6185G>ASubstitution - Missense
ANTXR1ENSG00000169604ENST00000303714p.I325Ic.975C>TSubstitution - coding silent
ANTXR1ENSG00000169604ENST00000409349p.I325Ic.975C>TSubstitution - coding silent
SLC16A14ENSG00000163053ENST00000295190p.A360Ac.1080A>GSubstitution - coding silent
SGPP2ENSG00000163082ENST00000321276p.A275Vc.824C>TSubstitution - Missense
SNTG2ENSG00000172554ENST00000308624p.H139Nc.415C>ASubstitution - Missense
IL1BENSG00000125538ENST00000263341p.N110Nc.330C>TSubstitution - coding silent
FBLN7ENSG00000144152ENST00000331203p.T128_Q131>Kc.383_391delCAGGGGAGCComplex - deletion inframe
FLNAENSG00000196924ENST00000369850p.T1506Ic.4517C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.I2332Lc.6994A>TSubstitution - Missense
PORENSG00000127948ENST00000461988p.?c.1248+4_1248+27del24Unknown
PORENSG00000127948ENST00000450476p.?c.945+4_945+27del24Unknown
FAM188BENSG00000106125ENST00000265299p.P306Pc.918G>ASubstitution - coding silent
SLC22A2ENSG00000112499ENST00000366953p.?c.1501+5G>AUnknown
SYNE1ENSG00000131018ENST00000265368p.C2998Cc.8994C>TSubstitution - coding silent
RAET1EENSG00000164520ENST00000357183p.G29Cc.85G>TSubstitution - Missense
ENST00000346567p.L54Lc.162T>ASubstitution - coding silent
GFPT2ENSG00000131459ENST00000253778p.I165Ic.495T>CSubstitution - coding silent
ADAMTS2ENSG00000087116ENST00000251582p.N1150Sc.3449A>GSubstitution - Missense
ADAMTS2ENSG00000087116ENST00000251582p.?c.892-10T>CUnknown
DSPENSG00000096696ENST00000379802p.?c.2131-7T>CUnknown
ICAM3ENSG00000076662ENST00000160262p.P219Pc.657C>TSubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000400091p.T297Mc.890C>TSubstitution - Missense
ARHGAP28ENSG00000088756ENST00000314319p.T138Mc.413C>TSubstitution - Missense
MEGF10ENSG00000145794ENST00000274473p.T674Ic.2021C>TSubstitution - Missense
SLC12A2ENSG00000064651ENST00000262461p.V391Mc.1171G>ASubstitution - Missense
KCNIP4ENSG00000185774ENST00000382150p.T44Tc.132C>TSubstitution - coding silent
KCNIP4ENSG00000185774ENST00000382148p.T40Tc.120C>TSubstitution - coding silent
FREM3ENSG00000183090ENST00000329798p.V1429Lc.4285G>TSubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.D754Nc.2260G>ASubstitution - Missense
FBLN2ENSG00000163520ENST00000404922p.D173Nc.517G>ASubstitution - Missense
GTF2E1ENSG00000153767ENST00000283875p.A349Ac.1047C>TSubstitution - coding silent
CCDC64BENSG00000162069ENST00000389347p.S430fs*29c.1289_1292delCCCTDeletion - Frameshift
SRCAPENSG00000080603ENST00000262518p.V2095Vc.6285T>ASubstitution - coding silent
SUGP1ENSG00000105705ENST00000247001p.K536Kc.1608G>ASubstitution - coding silent
STARD8ENSG00000130052ENST00000374599p.?c.1716-6C>GUnknown
STARD8ENSG00000130052ENST00000252336p.?c.1476-6C>GUnknown
STARD8ENSG00000130052ENST00000252336p.?c.1476-6C>GUnknown
EHMT1ENSG00000181090ENST00000460843p.G705Gc.2115G>ASubstitution - coding silent
ENST00000298728p.G674Gc.2022G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
SURF1ENSG00000148290ENST00000371974p.R264fs*27c.792_793delAGDeletion - Frameshift
HTR4ENSG00000164270ENST00000314512p.S115Fc.344C>TSubstitution - Missense
HTR4ENSG00000164270ENST00000362016p.S115Fc.344C>TSubstitution - Missense
HTR4ENSG00000164270ENST00000360693p.S115Fc.344C>TSubstitution - Missense
HTR4ENSG00000164270ENST00000354217p.S115Fc.344C>TSubstitution - Missense
PCDHGA4ENSG00000262576ENST00000571252p.V757Vc.2271C>GSubstitution - coding silent
PLD1ENSG00000075651ENST00000351298p.E204Ec.612G>ASubstitution - coding silent
HKR1ENSG00000181666ENST00000392153p.?c.33+7A>GUnknown
ENST00000270288_v71p.D478Nc.1432G>ASubstitution - Missense
WTIPENSG00000142279ENST00000270288p.D254Nc.760G>ASubstitution - Missense
LPOENSG00000167419ENST00000262290p.T81Mc.242C>TSubstitution - Missense
NM_004505.1p.H142Yc.424C>TSubstitution - Missense
WFIKKN2ENSG00000173714ENST00000311378p.S303Lc.908C>TSubstitution - Missense
THADAENSG00000115970ENST00000405975p.L103Lc.309A>GSubstitution - coding silent
AATFENSG00000108270ENST00000225402p.R545Hc.1634G>ASubstitution - Missense
ACACAENSG00000132142ENST00000353139p.V2351Ic.7051G>ASubstitution - Missense
ACACAENSG00000132142ENST00000360679p.V2256Ic.6766G>ASubstitution - Missense
ACACAENSG00000132142ENST00000360679p.H1849Rc.5546A>GSubstitution - Missense
SLFN12ENSG00000172123ENST00000394562p.M137Tc.410T>CSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.S139Sc.417T>CSubstitution - coding silent
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
NUTM2FENSG00000130950ENST00000253262p.P63Lc.188C>TSubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.P263Sc.787C>TSubstitution - Missense
SUSD3ENSG00000157303ENST00000375472p.V68Vc.204G>ASubstitution - coding silent
KANK3ENSG00000186994ENST00000330915p.A727Ac.2181G>ASubstitution - coding silent
GTF2F1ENSG00000125651ENST00000394456p.K74Rc.221A>GSubstitution - Missense
GLUD2ENSG00000182890ENST00000328078p.V437Vc.1311A>GSubstitution - coding silent
PDE7AENSG00000205268ENST00000401827p.S207Rc.619A>CSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.I1860Ic.5580C>TSubstitution - coding silent
NM_001947.1p.L230Lc.690A>GSubstitution - coding silent
KLBENSG00000134962ENST00000257408p.W1026Cc.3078G>CSubstitution - Missense
SONENSG00000159140ENST00000356577p.T1133Sc.3398C>GSubstitution - Missense
SONENSG00000159140ENST00000300278p.T1133Sc.3398C>GSubstitution - Missense
KRTAP4-6ENSG00000198090ENST00000345847p.R116Hc.347G>ASubstitution - Missense
GSDMBENSG00000073605ENST00000418519p.I222Tc.665T>CSubstitution - Missense
PROL1ENSG00000171199ENST00000399575p.P181Sc.541C>TSubstitution - Missense
TBC1D14ENSG00000132405ENST00000409757p.E121Ec.363A>GSubstitution - coding silent
ENST00000340816p.E106Ec.318A>GSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000420871p.N857Kc.2571T>ASubstitution - Missense
RNF103ENSG00000239305ENST00000237455p.T567Tc.1701A>GSubstitution - coding silent
COL6A2ENSG00000142173ENST00000300527p.I681Ic.2043C>TSubstitution - coding silent
COL6A2ENSG00000142173ENST00000310645p.I681Ic.2043C>TSubstitution - coding silent
KRTAP10-8ENSG00000187766ENST00000334662p.V132Mc.394G>ASubstitution - Missense
C21orf90ENSG00000182912ENST00000330490p.L6Pc.17T>CSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.S248Tc.743G>CSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.S248Tc.743G>CSubstitution - Missense
LILRB5ENSG00000105609ENST00000450632p.S293Yc.878C>ASubstitution - Missense
OSCARENSG00000170909ENST00000359649p.P29Pc.87C>GSubstitution - coding silent
OSCARENSG00000170909ENST00000356532p.P29Pc.87C>GSubstitution - coding silent
VN1R2ENSG00000196131ENST00000341702p.P121Rc.362C>GSubstitution - Missense
PPP2R1AENSG00000105568ENST00000322088p.I231Ic.693C>TSubstitution - coding silent
OTOFENSG00000115155ENST00000339598p.?c.1048-1G>CUnknown
D2HGDHENSG00000180902ENST00000321264p.?c.854-8C>GUnknown
C2orf54ENSG00000172478ENST00000388934p.G216Rc.646G>ASubstitution - Missense
C2orf54ENSG00000172478ENST00000388934p.R49Rc.147C>TSubstitution - coding silent
NIF3L1ENSG00000196290ENST00000359683p.T80Tc.240A>GSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.N17029Nc.51087C>TSubstitution - coding silent
ENST00000356127p.N23399Nc.70197C>TSubstitution - coding silent
SCRN3ENSG00000144306ENST00000409673p.G231Dc.692G>ASubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.L651Mc.1951C>ASubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.M994Ic.2982G>CSubstitution - Missense
ENST00000360191p.R147Sc.441G>CSubstitution - Missense
ENST00000356067p.M904Ic.2712G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.L2637Sc.7910T>CSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.L1740Sc.5219T>CSubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.P637Pc.1911G>CSubstitution - coding silent
CCNA2ENSG00000145386ENST00000274026p.N415Nc.1245T>CSubstitution - coding silent
NM_005496.2p.G1091Sc.3271G>ASubstitution - Missense
TRIM59ENSG00000213186ENST00000309784p.L392Sc.1175T>CSubstitution - Missense
IQCJ-SCHIP1ENSG00000250588ENST00000337808p.M462Ic.1386G>TSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.M1473Vc.4417A>GSubstitution - Missense
CCDC174ENSG00000154781ENST00000383794p.R366Rc.1098C>TSubstitution - coding silent
CCDC142ENSG00000135637ENST00000290418p.?c.1021+4_1021+16delagtgatgggcttgUnknown
RANBP10ENSG00000141084ENST00000317506p.D435Vc.1304A>TSubstitution - Missense
CCDC138ENSG00000163006ENST00000295124p.T621Tc.1863G>ASubstitution - coding silent
AURKCENSG00000105146ENST00000302804p.?c.296+2T>CUnknown
SYPENSG00000102003ENST00000263233p.R194Kc.581G>ASubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.A416Gc.1247C>GSubstitution - Missense
NEK10ENSG00000163491ENST00000429845p.I753Mc.2259C>GSubstitution - Missense
NGLY1ENSG00000151092ENST00000280700p.R430Kc.1289G>ASubstitution - Missense
CHEK2ENSG00000183765ENST00000328354p.I189Vc.565A>GSubstitution - Missense
POLKENSG00000122008ENST00000241436p.R246*c.736C>TSubstitution - Nonsense
POLKENSG00000122008ENST00000515295p.R246*c.736C>TSubstitution - Nonsense
FAM169AENSG00000198780ENST00000389156p.?c.233-5T>GUnknown
ZNF598ENSG00000167962ENST00000431526p.E201Ec.603G>ASubstitution - coding silent
KLHDC7AENSG00000179023ENST00000400664p.D606Nc.1816G>ASubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.L706Lc.2118G>ASubstitution - coding silent
FDXACB1ENSG00000255561ENST00000260257p.P534Pc.1602A>CSubstitution - coding silent
MUC2ENSG00000198788ENST00000359061p.P1127Qc.3380C>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.Q37Qc.111G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.Q37Qc.111G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.P1204_Q1209delPPTTPQc.3611_3628del18Deletion - In frame
PTPRBENSG00000127329ENST00000261266p.Q1923Kc.5767C>ASubstitution - Missense
NM_002837.2p.Q1923Kc.5767C>ASubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.S921Sc.2763C>TSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.S921Sc.2763C>TSubstitution - coding silent
ODF3ENSG00000177947ENST00000325113p.G171Gc.513C>GSubstitution - coding silent
LSP1ENSG00000130592ENST00000311604p.R249Lc.746G>TSubstitution - Missense
LSP1ENSG00000130592ENST00000405957p.R187Lc.560G>TSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.R1999Hc.5996G>ASubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.S288Tc.863G>CSubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.?c.1232-6T>CUnknown
ATP2B4ENSG00000058668ENST00000357681p.D494Nc.1480G>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.D494Nc.1480G>ASubstitution - Missense
DDX11ENSG00000013573ENST00000542838p.I392Ic.1176C>TSubstitution - coding silent
ARHGAP5ENSG00000100852ENST00000345122p.L1485Lc.4455G>ASubstitution - coding silent
POMGNT1ENSG00000085998ENST00000371984p.A43Ac.129C>TSubstitution - coding silent
CGNENSG00000143375ENST00000271636p.T1069Ac.3205A>GSubstitution - Missense
VSIG10ENSG00000176834ENST00000359236p.E260Gc.779A>GSubstitution - Missense
RLFENSG00000117000ENST00000372771p.Q1500Rc.4499A>GSubstitution - Missense
ENST00000530275_v68p.P1030Pc.3090C>ASubstitution - coding silent
CCDC88BENSG00000168071ENST00000356786p.?c.3834-9T>CUnknown
TDRD10ENSG00000163239ENST00000368480p.A137Tc.409G>ASubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.L1436Lc.4308G>TSubstitution - coding silent
ANK3ENSG00000151150ENST00000355288p.L570Lc.1710G>TSubstitution - coding silent
ASAH2ENSG00000188611ENST00000395526p.D43fs*2c.126delADeletion - Frameshift
ASAH2ENSG00000188611ENST00000395526p.D24fs*2c.69delADeletion - Frameshift
FRMPD2ENSG00000170324ENST00000374201p.P321Pc.963G>ASubstitution - coding silent
IFT43ENSG00000119650ENST00000238628p.E113Kc.337G>ASubstitution - Missense
DCAF4ENSG00000119599ENST00000358377p.H41Hc.123C>TSubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376087p.M405Vc.1213A>GSubstitution - Missense
C2orf80ENSG00000188674ENST00000341287p.Q187Kc.559C>ASubstitution - Missense
NM_032133.2p.R512Gc.1534A>GSubstitution - Missense
TTLL6ENSG00000170703ENST00000393382p.V30Ic.88G>ASubstitution - Missense
TAF1CENSG00000103168ENST00000378541p.P454Ac.1360C>GSubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.N915Dc.2743A>GSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.D997Ec.2991C>GSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.H480Rc.1439A>GSubstitution - Missense
ADCK1ENSG00000063761ENST00000341211p.T366Sc.1097C>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.L783Fc.2347C>TSubstitution - Missense
NM_006255p.L371Vc.1111C>GSubstitution - Missense
SCUBE2ENSG00000175356ENST00000309263p.D59Nc.175G>ASubstitution - Missense
SCUBE2ENSG00000175356ENST00000457346p.D59Nc.175G>ASubstitution - Missense
FAM81AENSG00000157470ENST00000288228p.?c.294+10G>TUnknown
ATP2B4ENSG00000058668ENST00000357681p.P1192Lc.3575C>TSubstitution - Missense
ENST00000375206p.R1305Qc.3914G>ASubstitution - Missense
RUNX1T1ENSG00000079102ENST00000265814p.D477Nc.1429G>ASubstitution - Missense
DMTNENSG00000158856ENST00000265800p.P344Pc.1032C>GSubstitution - coding silent
GFRA2ENSG00000168546ENST00000524240p.?c.1273-9C>TUnknown
AF381545.1p.L141Lc.423A>GSubstitution - coding silent
FAM208AENSG00000163946ENST00000431842p.V561Gc.1682T>GSubstitution - Missense
GALTENSG00000213930ENST00000378842p.P87Lc.260C>TSubstitution - Missense
CEP41ENSG00000106477ENST00000223208p.P349Sc.1045C>TSubstitution - Missense
ADAM33ENSG00000149451ENST00000356518p.C420Cc.1260C>TSubstitution - coding silent
ZNF99ENSG00000213973ENST00000397104p.?c.2194+33_2590+36>GTACGUnknown
ZNF99ENSG00000213973ENST00000397104p.H660Rc.1979A>GSubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.R1626Qc.4877G>ASubstitution - Missense
PIGLENSG00000108474ENST00000225609p.A166Dc.497C>ASubstitution - Missense
ACAD8ENSG00000151498ENST00000281182p.A329Vc.986C>TSubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.A369Tc.1105G>ASubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.L240Lc.720C>ASubstitution - coding silent
ENST00000377560_v62p.L490Lc.1470C>ASubstitution - coding silent
UBE3BENSG00000151148ENST00000280774p.E696Gc.2087A>GSubstitution - Missense
RIC8BENSG00000111785ENST00000392839p.R411Hc.1232G>ASubstitution - Missense
OLFM4ENSG00000102837ENST00000219022p.P3Pc.9C>TSubstitution - coding silent
CPB2ENSG00000080618ENST00000181383p.?c.797-2A>CUnknown
ERBB3ENSG00000065361ENST00000411731p.G69Gc.207A>TSubstitution - coding silent
ERBB3ENSG00000065361ENST00000267101p.G69Gc.207A>TSubstitution - coding silent
OR6C75ENSG00000187857ENST00000343399p.R120Hc.359G>ASubstitution - Missense
CCDC77ENSG00000120647ENST00000239830p.R391Cc.1171C>TSubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.T573Tc.1719C>TSubstitution - coding silent
TENC1ENSG00000111077ENST00000314250p.V164Vc.492G>ASubstitution - coding silent
CENPFENSG00000117724ENST00000366955p.M807Vc.2419A>GSubstitution - Missense
CR1ENSG00000203710ENST00000367049p.V38Vc.114G>CSubstitution - coding silent
CR1ENSG00000203710ENST00000400960p.V38Vc.114G>CSubstitution - coding silent
YOD1ENSG00000180667ENST00000315927p.S140Sc.420T>CSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.P1204Pc.3612A>GSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.P1204Pc.3612A>GSubstitution - coding silent
HHATLENSG00000010282ENST00000310417p.R486Hc.1457G>ASubstitution - Missense
VWDEENSG00000146530ENST00000275358p.R1477Hc.4430G>ASubstitution - Missense
CNGA2ENSG00000183862ENST00000329903p.R266Cc.796C>TSubstitution - Missense
CALN1ENSG00000183166ENST00000329008p.E28Kc.82G>ASubstitution - Missense
ARPP21ENSG00000172995ENST00000187397p.R510Qc.1529G>ASubstitution - Missense
KCTD10ENSG00000110906ENST00000228495p.R298Wc.892C>TSubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.R964Cc.2890C>TSubstitution - Missense
NM_006313.1p.L480Fc.1440G>TSubstitution - Missense
ARHGEF25ENSG00000240771ENST00000333972p.H126Rc.377A>GSubstitution - Missense
ARHGEF25ENSG00000240771ENST00000286494p.H87Rc.260A>GSubstitution - Missense
PRIM1ENSG00000198056ENST00000338193p.Q260Qc.780A>GSubstitution - coding silent
OR52R1ENSG00000176937ENST00000380382p.R213Qc.638G>ASubstitution - Missense
OR52R1ENSG00000176937ENST00000356069p.R133Qc.398G>ASubstitution - Missense
LRP4ENSG00000134569ENST00000378623p.H1378Qc.4134T>ASubstitution - Missense
DGKZENSG00000149091ENST00000421244p.?c.2573+1G>CUnknown
DGKZENSG00000149091ENST00000395574p.?c.2471+1G>CUnknown
MUC5BENSG00000117983ENST00000529681p.Y617Yc.1851C>TSubstitution - coding silent
ENST00000349637p.Y620Yc.1860C>TSubstitution - coding silent
PARVAENSG00000197702ENST00000334956p.?c.969+8G>AUnknown
HOGA1ENSG00000241935ENST00000370646p.Q249Ec.745C>GSubstitution - Missense
HOGA1ENSG00000241935ENST00000370646p.R281Qc.842G>ASubstitution - Missense
TLL2ENSG00000095587ENST00000357947p.A419Ac.1257C>TSubstitution - coding silent
CCSER2ENSG00000107771ENST00000224756p.S162Lc.485C>TSubstitution - Missense
ENST00000412131p.E911Dc.2733G>TSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.E291Dc.873G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.T1001Mc.3002C>TSubstitution - Missense
SLC35A3ENSG00000117620ENST00000370155p.G255Gc.765C>TSubstitution - coding silent
FREM2ENSG00000150893ENST00000280481p.Y1971Yc.5913C>TSubstitution - coding silent
STAB2ENSG00000136011ENST00000388887p.D1110Nc.3328G>ASubstitution - Missense
PIWIL4ENSG00000134627ENST00000299001p.I104Tc.311T>CSubstitution - Missense
CYP17A1ENSG00000148795ENST00000369887p.E203Ec.609A>GSubstitution - coding silent
DHTKD1ENSG00000181192ENST00000263035p.A642Ac.1926C>TSubstitution - coding silent
IL22RA1ENSG00000142677ENST00000270800p.R104Wc.310C>TSubstitution - Missense
SRSF10ENSG00000188529ENST00000492112p.R62Rc.186T>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.G2740*c.8218G>TSubstitution - Nonsense
SHANK2ENSG00000162105ENST00000294018p.G575Rc.1723G>ASubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.G1171Rc.3511G>ASubstitution - Missense
OR5B12ENSG00000172362ENST00000302572p.T302Ic.905C>TSubstitution - Missense
ZNF839ENSG00000022976ENST00000442396p.?c.289-6C>TUnknown
STK32CENSG00000165752ENST00000368620p.R21Rc.63G>ASubstitution - coding silent
MYO7AENSG00000137474ENST00000409709p.A743Dc.2228C>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.G1725Dc.5174G>ASubstitution - Missense
FANCIENSG00000140525ENST00000300027p.S78Lc.233C>TSubstitution - Missense
TMBIM6ENSG00000139644ENST00000267115p.?c.614+8T>CUnknown


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