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CAKI-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

537 mutations reported
177 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
PRKCZENSG00000067606ENST00000378567p.I453Vc.1357A>GSubstitution - Missense
PRKCZENSG00000067606ENST00000378567p.I453Vc.1357A>GSubstitution - Missense
CR1ENSG00000203710ENST00000367049p.A2462Vc.7385C>TSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.A2012Vc.6035C>TSubstitution - Missense
KIAA0930ENSG00000100364ENST00000251993p.M154Tc.461T>CSubstitution - Missense
KIAA0930ENSG00000100364ENST00000336156p.M149Tc.446T>CSubstitution - Missense
KRT36ENSG00000126337ENST00000328119p.N161fs*8c.477_478delTGDeletion - Frameshift
TMUB1ENSG00000164897ENST00000392818p.V104_L105insPLVc.302_303insGCCCCTCGTInsertion - In frame
OR10H3ENSG00000171936ENST00000305892p.S232fs*6c.693_694ins10Insertion - Frameshift
MYO15AENSG00000091536ENST00000205890p.A2456Gc.7367C>GSubstitution - Missense
RARAENSG00000131759ENST00000394081p.S55Pc.163T>CSubstitution - Missense
BPTFENSG00000171634ENST00000306378p.D369Nc.1105G>ASubstitution - Missense
BPTFENSG00000171634ENST00000335221p.D369Nc.1105G>ASubstitution - Missense
GAS2L3ENSG00000139354ENST00000266754p.Y171*c.513C>GSubstitution - Nonsense
LPAR6ENSG00000139679ENST00000345941p.N306Yc.916A>TSubstitution - Missense
ADAMTS2ENSG00000087116ENST00000251582p.Q225*c.673C>TSubstitution - Nonsense
MED12LENSG00000144893ENST00000474524p.N1238Sc.3713A>GSubstitution - Missense
DPYDENSG00000188641ENST00000370192p.D873Ec.2619C>GSubstitution - Missense
IMMTENSG00000132305ENST00000410111p.P676Lc.2027C>TSubstitution - Missense
ENST00000398121p.R368Hc.1103G>ASubstitution - Missense
INSRRENSG00000027644ENST00000368195p.R105Rc.315C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T2728fs*13c.8181_8182delCADeletion - Frameshift
KRTAP5-10ENSG00000204572ENST00000398531p.G105Gc.315T>CSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.M276Ic.828G>ASubstitution - Missense
AKAP1ENSG00000121057ENST00000337714p.V815Dc.2444T>ASubstitution - Missense
FAM181AENSG00000140067ENST00000267594p.M1Ic.3G>ASubstitution - Missense
KCNH5ENSG00000140015ENST00000322893p.L923Mc.2767C>ASubstitution - Missense
PRAMEF11ENSG00000204513ENST00000535591p.Y296Yc.888C>TSubstitution - coding silent
CNTN2ENSG00000184144ENST00000331830p.D767Nc.2299G>ASubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.A1416Ac.4248C>TSubstitution - coding silent
PRMT8ENSG00000111218ENST00000382622p.N160Hc.478A>CSubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.E983Dc.2949G>TSubstitution - Missense
CKMT1BENSG00000237289ENST00000300283p.I387Vc.1159A>GSubstitution - Missense
CAPN3ENSG00000092529ENST00000357568p.H407Yc.1219C>TSubstitution - Missense
MAPKBP1ENSG00000137802ENST00000457542p.R577Cc.1729C>TSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.M2734Rc.8201T>GSubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.?c.480-4T>CUnknown
TCHHENSG00000159450ENST00000368804p.L507Vc.1519C>GSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.S1008Tc.3023G>CSubstitution - Missense
ILDR2ENSG00000143195ENST00000271417p.R407Pc.1220G>CSubstitution - Missense
CTSSENSG00000163131ENST00000368985p.Q133Kc.397C>ASubstitution - Missense
SYCP1ENSG00000198765ENST00000369518p.L523Lc.1569T>ASubstitution - coding silent
PACS1ENSG00000175115ENST00000320580p.T169Ac.505A>GSubstitution - Missense
PACS1ENSG00000175115ENST00000320580p.T169Ic.506C>TSubstitution - Missense
SMPD1ENSG00000166311ENST00000342245p.G270Sc.808G>ASubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.I711Ic.2133C>TSubstitution - coding silent
HERC4ENSG00000148634ENST00000395198p.C513Cc.1539T>CSubstitution - coding silent
RTKN2ENSG00000182010ENST00000373789p.?c.258-6T>GUnknown
ERCC6ENSG00000225830ENST00000355832p.A298Tc.892G>ASubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.M1164Vc.3490A>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.?c.8290+8T>CUnknown
NXPE1ENSG00000095110ENST00000424269p.N331delNc.991_993delAACDeletion - In frame
LRRC52ENSG00000162763ENST00000294818p.D286Dc.858C>TSubstitution - coding silent
C1orf112ENSG00000000460ENST00000286031p.K352Kc.1056G>ASubstitution - coding silent
NBEAENSG00000172915ENST00000310336p.N2659Hc.7975A>CSubstitution - Missense
NBEAENSG00000172915ENST00000379922p.N237Hc.709A>CSubstitution - Missense
SLC46A3ENSG00000139508ENST00000266943p.I330Tc.989T>CSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.R253Cc.757C>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.R253Cc.757C>TSubstitution - Missense
NM_018370.1p.V29Mc.85G>ASubstitution - Missense
NUDT5ENSG00000165609ENST00000491614p.R84Qc.251G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.G1321Gc.3963A>TSubstitution - coding silent
KMOENSG00000117009ENST00000366559p.P311Pc.933G>ASubstitution - coding silent
VEZTENSG00000028203ENST00000261219p.R216Lc.647G>TSubstitution - Missense
RNF31ENSG00000092098ENST00000324103p.H144Pc.431A>CSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.S1021Gc.3061A>GSubstitution - Missense
AQP11ENSG00000178301ENST00000313578p.Q145Hc.435G>CSubstitution - Missense
PLBD1ENSG00000121316ENST00000240617p.S130Tc.388T>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.P663Pc.1989C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.P4337Lc.13010C>TSubstitution - Missense
SU_OBSCN.1p.P4207Lc.12620C>TSubstitution - Missense
STAC3ENSG00000185482ENST00000332782p.V353Mc.1057G>ASubstitution - Missense
NESENSG00000132688ENST00000368223p.Q1022Kc.3064C>ASubstitution - Missense
TECTAENSG00000109927ENST00000392793p.H443Lc.1328A>TSubstitution - Missense
MYOFENSG00000138119ENST00000359263p.L192Pc.575T>CSubstitution - Missense
SORBS1ENSG00000095637ENST00000371247p.T624Mc.1871C>TSubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.N56Kc.168T>GSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.A1365Tc.4093G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.A1353Tc.4057G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.1525-5C>AUnknown
MBNL2ENSG00000139793ENST00000345429p.A269Pc.805G>CSubstitution - Missense
MBNL2ENSG00000139793ENST00000343600p.A269Pc.805G>CSubstitution - Missense
ENST00000376679p.A20Pc.58G>CSubstitution - Missense
ENST00000327303p.L814Lc.2440T>CSubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.L98Pc.293T>CSubstitution - Missense
STOML1ENSG00000067221ENST00000316900p.K381Nc.1143G>TSubstitution - Missense
ANKRD52ENSG00000139645ENST00000267116p.E804Ec.2412A>GSubstitution - coding silent
ZC3H10ENSG00000135482ENST00000257940p.P2Rc.5C>GSubstitution - Missense
IRF6ENSG00000117595ENST00000367021p.A174Vc.521C>TSubstitution - Missense
C16orf95ENSG00000260456ENST00000253461p.V152Ic.454G>ASubstitution - Missense
TBC1D23ENSG00000036054ENST00000394144p.N154Nc.462T>CSubstitution - coding silent
TBC1D23ENSG00000036054ENST00000344949p.N154Nc.462T>CSubstitution - coding silent
AQP12BENSG00000185176ENST00000407834p.G48Gc.144G>CSubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.T2993Ac.8977A>GSubstitution - Missense
C21orf58ENSG00000160298ENST00000291691p.A59Ac.177G>ASubstitution - coding silent
PCM1ENSG00000078674ENST00000325083p.A616Ac.1848A>GSubstitution - coding silent
SPATC1ENSG00000186583ENST00000377470p.P128Sc.382C>TSubstitution - Missense
ENST00000335203p.P37Sc.109C>TSubstitution - Missense
ARPC1BENSG00000130429ENST00000252725p.A236Ac.708C>TSubstitution - coding silent
LRRD1ENSG00000240720ENST00000458448p.I378Tc.1133T>CSubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.L1177Lc.3531A>GSubstitution - coding silent
DLL1ENSG00000198719ENST00000366756p.D330Dc.990C>TSubstitution - coding silent
TBPENSG00000112592ENST00000230354p.M219fs*9c.655_656insAInsertion - Frameshift
ALAS1ENSG00000023330ENST00000394965p.P45Tc.133C>ASubstitution - Missense
CDHR4ENSG00000187492ENST00000412678p.P68Hc.203C>ASubstitution - Missense
ENST00000316347p.P231Qc.692C>ASubstitution - Missense
KLHDC8BENSG00000185909ENST00000332780p.F244Fc.732T>CSubstitution - coding silent
DAG1ENSG00000173402ENST00000308775p.V429Vc.1287A>GSubstitution - coding silent
BSNENSG00000164061ENST00000296452p.T2043Tc.6129G>ASubstitution - coding silent
HGFACENSG00000109758ENST00000382774p.T632Sc.1895C>GSubstitution - Missense
IL10RBENSG00000243646ENST00000290200p.R130Hc.389G>ASubstitution - Missense
LMCD1ENSG00000071282ENST00000157600p.L59Lc.177A>GSubstitution - coding silent
FRG2CENSG00000172969ENST00000308062p.Q198Qc.594G>ASubstitution - coding silent
ARID5AENSG00000196843ENST00000357485p.D41Ac.122A>CSubstitution - Missense
MRPL35ENSG00000132313ENST00000337109p.A7Vc.20C>TSubstitution - Missense
ALOXE3ENSG00000179148ENST00000318227p.S665Nc.1994G>ASubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000431468p.A181Vc.542C>TSubstitution - Missense
ENST00000005905p.?c.1230-9C>TUnknown
CNBD1ENSG00000176571ENST00000518476p.F376fs*2c.1126delTDeletion - Frameshift
CNBD1ENSG00000176571ENST00000518476p.F376fs*2c.1126delTDeletion - Frameshift
SLC26A7ENSG00000147606ENST00000276609p.P536Rc.1607C>GSubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.R524Gc.1570C>GSubstitution - Missense
METTL2BENSG00000165055ENST00000262432p.I136Tc.407T>CSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.T389Ic.1166C>TSubstitution - Missense
LMOD2ENSG00000170807ENST00000458573p.E98Kc.292G>ASubstitution - Missense
GCC1ENSG00000179562ENST00000321407p.A478Ac.1434A>CSubstitution - coding silent
SIGLEC10ENSG00000142512ENST00000339313p.G312Rc.934G>ASubstitution - Missense
ENST00000469064p.L66Lc.198G>ASubstitution - coding silent
OAZ1ENSG00000104904ENST00000322297p.P60Sc.178C>TSubstitution - Missense
XM_290732.4p.A333Vc.998C>TSubstitution - Missense
EVPLENSG00000167880ENST00000301607p.K756delKc.2268_2270delGAADeletion - In frame
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
CXorf57ENSG00000147231ENST00000372548p.?c.1904+1G>AUnknown
PTCH1ENSG00000185920ENST00000331920p.R1320Ic.3959G>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.R1320Ic.3959G>TSubstitution - Missense
CTXN1ENSG00000178531ENST00000318978p.D55Ac.164A>CSubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.?c.3112-10C>TUnknown
PDE7AENSG00000205268ENST00000401827p.?c.920+3A>GUnknown
PDE7AENSG00000205268ENST00000379419p.?c.842+3A>GUnknown
FSIP2ENSG00000188738ENST00000343098p.E1214Kc.3640G>ASubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.E1214Kc.3640G>ASubstitution - Missense
CHTF18ENSG00000127586ENST00000317063p.R605Sc.1813C>ASubstitution - Missense
GSE1ENSG00000131149ENST00000253458p.V1129Ic.3385G>ASubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.P523Pc.1569T>ASubstitution - coding silent
PLCG2ENSG00000197943ENST00000359376p.P523Pc.1569T>ASubstitution - coding silent
KARSENSG00000065427ENST00000319410p.?c.566+8G>AUnknown
MON1BENSG00000103111ENST00000248248p.G282Sc.844G>ASubstitution - Missense
RFWD3ENSG00000168411ENST00000361070p.?c.1079+3_1079+4insGGTUnknown
INO80ENSG00000128908ENST00000361937p.E884Ec.2652A>GSubstitution - coding silent
INO80ENSG00000128908ENST00000361937p.E884Ec.2652A>GSubstitution - coding silent
MCF2LENSG00000126217ENST00000375601p.V119Mc.355G>ASubstitution - Missense
MCF2LENSG00000126217ENST00000375608p.V145Mc.433G>ASubstitution - Missense
SPACA7ENSG00000153498ENST00000283550p.E86Kc.256G>ASubstitution - Missense
HAS3ENSG00000103044ENST00000219322p.S216Sc.648T>ASubstitution - coding silent
TMUB1ENSG00000164897ENST00000392818p.V104_L105insPLVc.313_314insCCCTCGTGCInsertion - In frame
ARHGEF5ENSG00000050327ENST00000056217p.S1361Nc.4082G>ASubstitution - Missense
THAP5ENSG00000177683ENST00000313516p.S40Fc.119C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.P129Hc.386C>ASubstitution - Missense
RBM22ENSG00000086589ENST00000199814p.?c.1132+9C>TUnknown
PCDHB3ENSG00000113205ENST00000231130p.P390Pc.1170C>TSubstitution - coding silent
TRAF2ENSG00000127191ENST00000536468p.G25Ec.74G>ASubstitution - Missense
TRAF2ENSG00000127191ENST00000359662p.G25Ec.74G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
YIF1BENSG00000167645ENST00000392124p.T184Tc.552C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000406316p.I729fs*5c.2185delADeletion - Frameshift
PLEKHH2ENSG00000152527ENST00000282406p.C1049Cc.3147C>TSubstitution - coding silent
ADAP2ENSG00000184060ENST00000330889p.G358Gc.1074T>GSubstitution - coding silent
LCA5ENSG00000135338ENST00000392959p.L274Fc.820C>TSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.P880Lc.2639C>TSubstitution - Missense
EYSENSG00000188107ENST00000370621p.N2292Nc.6876T>CSubstitution - coding silent
COL9A1ENSG00000112280ENST00000357250p.G394Gc.1182C>TSubstitution - coding silent
COL9A1ENSG00000112280ENST00000320755p.G151Gc.453C>TSubstitution - coding silent
COL21A1ENSG00000124749ENST00000244728p.V263Fc.787G>TSubstitution - Missense
TSPYL1ENSG00000189241ENST00000368608p.G50Ac.149G>CSubstitution - Missense
SERPINB2ENSG00000197632ENST00000299502p.W172Rc.514T>CSubstitution - Missense
ZNF732ENSG00000186777ENST00000419098p.P277Pc.831C>GSubstitution - coding silent
ENST00000414523p.P249Pc.747C>GSubstitution - coding silent
GPR125ENSG00000152990ENST00000334304p.Q327Qc.981G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.R2041Hc.6122G>ASubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Tc.1127A>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Hc.1126A>CSubstitution - Missense
TUBA3DENSG00000075886ENST00000321253p.R339Cc.1015C>TSubstitution - Missense
ZNF100ENSG00000197020ENST00000358296p.E66Ec.198G>ASubstitution - coding silent
EXD3ENSG00000187609ENST00000340951p.Q770Pc.2309A>CSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.G2203Wc.6607G>TSubstitution - Missense
TPRNENSG00000176058ENST00000321773p.G390fs*>44c.1169delGDeletion - Frameshift
ZNF273ENSG00000198039ENST00000476120p.H188fs*34c.560delTDeletion - Frameshift
FAM185AENSG00000222011ENST00000413034p.V162Ac.485T>CSubstitution - Missense
MEPCEENSG00000146834ENST00000310512p.G298Gc.894C>TSubstitution - coding silent
TAF9ENSG00000085231ENST00000380822p.R87Cc.259C>TSubstitution - Missense
TAF9ENSG00000085231ENST00000380818p.R84Cc.250C>TSubstitution - Missense
SETD2ENSG00000181555ENST00000330022p.?c.3206+1G>AUnknown
ENSG00000073169ENST00000380903p.V584Mc.1750G>ASubstitution - Missense
SREBF2ENSG00000198911ENST00000361204p.V549Ac.1646T>CSubstitution - Missense
SMDT1ENSG00000183172ENST00000331479p.S16Ac.46T>GSubstitution - Missense
STEAP3ENSG00000115107ENST00000393106p.R284Hc.851G>ASubstitution - Missense
HOXA4ENSG00000197576ENST00000360046p.H309Nc.925C>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.D913Nc.2737G>ASubstitution - Missense
C6orf99ENSG00000203711ENST00000367072p.P93Lc.278C>TSubstitution - Missense
C6orf99ENSG00000203711ENST00000367073p.P170Lc.509C>TSubstitution - Missense
ZFRENSG00000056097ENST00000265069p.D1070fs*3c.3207_3208insAInsertion - Frameshift
PRSS12ENSG00000164099ENST00000296498p.P856_G857insPc.2568_2569insCCTInsertion - In frame
SUCNR1ENSG00000198829ENST00000362032p.K53Nc.159G>TSubstitution - Missense
REG1BENSG00000172023ENST00000305089p.D53Yc.157G>TSubstitution - Missense
DCTN1ENSG00000204843ENST00000361874p.M1186Ic.3558G>ASubstitution - Missense
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-1G>TUnknown
ARMC7ENSG00000125449ENST00000245543p.E69Kc.205G>ASubstitution - Missense
SSX1ENSG00000126752ENST00000376919p.E44Gc.131A>GSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.T1539Mc.4616C>TSubstitution - Missense
LETM2ENSG00000165046ENST00000297720p.V55fs*1c.162delGDeletion - Frameshift
FGFR1ENSG00000077782ENST00000447712p.G817Gc.2451C>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.I3426Tc.10277T>CSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.I3426Tc.10277T>CSubstitution - Missense
UBE2D3ENSG00000109332ENST00000343106p.Y45fs*21c.134_135delATDeletion - Frameshift
OR5AC2ENSG00000196578ENST00000358642p.S232fs*2c.692_693insAInsertion - Frameshift
MYT1ENSG00000196132ENST00000536311p.L28Ic.82C>ASubstitution - Missense
C16orf95ENSG00000260456ENST00000567970p.R213Hc.638G>ASubstitution - Missense
FRMPD2ENSG00000170324ENST00000374201p.L4fs*1c.11delTDeletion - Frameshift
PGA3ENSG00000229859ENST00000325558p.V321Fc.961G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.P4436Lc.13307C>TSubstitution - Missense
IVNS1ABPENSG00000116679ENST00000367498p.N185fs*21c.552_553insAInsertion - Frameshift
RGL2ENSG00000237441ENST00000444031p.D139Ec.417C>ASubstitution - Missense
MAP3K13ENSG00000073803ENST00000535426p.R441Qc.1322G>ASubstitution - Missense
OR51Q1ENSG00000167360ENST00000300778p.*318Wc.954A>GNonstop extension
VPS8ENSG00000156931ENST00000437079p.P1153Ac.3457C>GSubstitution - Missense
AGGF1ENSG00000164252ENST00000312916p.D182Vc.545A>TSubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.P307Tc.919C>ASubstitution - Missense
ENST00000215591p.?c.3067-10C>TUnknown
PRMT8ENSG00000111218ENST00000452611p.N151Hc.451A>CSubstitution - Missense
ZMYND11ENSG00000015171ENST00000558098p.S419Rc.1255A>CSubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.G472Ec.1415G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366766p.P980Tc.2938C>ASubstitution - Missense
YY2ENSG00000230797ENST00000429584p.D103Yc.307G>TSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.D1405Yc.4213G>TSubstitution - Missense
METENSG00000105976ENST00000318493p.V1238Ic.3712G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
FGFR1ENSG00000077782ENST00000341462p.G817Gc.2451C>TSubstitution - coding silent
RGL2ENSG00000237441ENST00000444031p.Q419Ec.1255C>GSubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.P368Sc.1102C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T2871fs*13c.8610_8611delCADeletion - Frameshift
ZNF717ENSG00000227124ENST00000400845p.R41Kc.122G>ASubstitution - Missense
CDHR4ENSG00000187492ENST00000343366p.P68Hc.203C>ASubstitution - Missense
ARL6IP5ENSG00000144746ENST00000273258p.L8Ic.22C>ASubstitution - Missense
VPS8ENSG00000156931ENST00000287546p.P1153Ac.3457C>GSubstitution - Missense
RTP2ENSG00000198471ENST00000358241p.H69Yc.205C>TSubstitution - Missense
TMEM44ENSG00000145014ENST00000330115p.L29Lc.87C>TSubstitution - coding silent
ENST00000314583_v70p.N376Hc.1126A>CSubstitution - Missense
CEP63ENSG00000182923ENST00000354446p.?c.789+1G>AUnknown
MYT1ENSG00000196132ENST00000360149p.L28Ic.82C>ASubstitution - Missense
LILRA2ENSG00000239998ENST00000251377p.R165Rc.495C>GSubstitution - coding silent
YIF1BENSG00000167645ENST00000329420p.T200Tc.600C>TSubstitution - coding silent
MAPKBP1ENSG00000137802ENST00000456763p.R583Cc.1747C>TSubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.A1429Ac.4287C>TSubstitution - coding silent
MCF2LENSG00000126217ENST00000434480p.V121Mc.361G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
LRRC1ENSG00000137269ENST00000370888p.G148Gc.444C>GSubstitution - coding silent
TAF11ENSG00000064995ENST00000361288p.A30fs*19c.88delGDeletion - Frameshift
RGL2ENSG00000237441ENST00000497454p.?c.1387-3C>GUnknown
RGL2ENSG00000237441ENST00000497454p.D221Ec.663C>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.T2837Kc.8510C>ASubstitution - Missense
NM_004520.1p.F283Yc.848T>ASubstitution - Missense
KIF2AENSG00000068796ENST00000407818p.F310Yc.929T>ASubstitution - Missense
DHX29ENSG00000067248ENST00000251636p.K220Kc.660G>ASubstitution - coding silent
CLDN24ENSG00000185758ENST00000541814p.E59Kc.175G>ASubstitution - Missense
RTP2ENSG00000198471ENST00000358241p.A68Pc.202G>CSubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.R585Qc.1754G>ASubstitution - Missense
TBC1D13ENSG00000107021ENST00000372648p.?c.383+3A>CUnknown
FOXD4ENSG00000170122ENST00000382500p.Y246Yc.738C>TSubstitution - coding silent
NM_207305.1p.Y246Yc.738C>TSubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.I1470Mc.4410T>GSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.L334Vc.1000C>GSubstitution - Missense
GGT5ENSG00000099998ENST00000327365p.V22Vc.66C>GSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
ITGB8ENSG00000105855ENST00000222573p.P749Pc.2247T>CSubstitution - coding silent
ITGB8ENSG00000105855ENST00000222573p.P749Pc.2247T>CSubstitution - coding silent
STK32BENSG00000152953ENST00000282908p.F20Ic.58T>ASubstitution - Missense
WFDC2ENSG00000101443ENST00000372676p.V99Mc.295G>ASubstitution - Missense
ZP2ENSG00000103310ENST00000219593p.M701Tc.2102T>CSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.R344Qc.1031G>ASubstitution - Missense
HYDINENSG00000157423ENST00000288168p.R334Qc.1001G>ASubstitution - Missense
HAS3ENSG00000103044ENST00000306560p.S216Sc.648T>ASubstitution - coding silent
PEX3ENSG00000034693ENST00000367591p.P158Rc.473C>GSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.L534Lc.1602A>GSubstitution - coding silent
INTS8ENSG00000164941ENST00000523731p.E598Ec.1794G>ASubstitution - coding silent
ADAM23ENSG00000114948ENST00000374415p.A797Ac.2391C>TSubstitution - coding silent
ENST00000331986p.T1784Tc.5352A>GSubstitution - coding silent
MCF2LENSG00000126217ENST00000375604p.V172Mc.514G>ASubstitution - Missense
GBAENSG00000177628ENST00000368373p.R83Cc.247C>TSubstitution - Missense
MRVI1ENSG00000072952ENST00000547195p.T588Tc.1764G>ASubstitution - coding silent
SUPT20HENSG00000102710ENST00000350612p.M170Tc.509T>CSubstitution - Missense
ITGB7ENSG00000139626ENST00000422257p.Y408Yc.1224C>TSubstitution - coding silent
TCF12ENSG00000140262ENST00000438423p.K15Rc.44A>GSubstitution - Missense
ENST00000309710p.A57Ac.171G>ASubstitution - coding silent
SETXENSG00000107290ENST00000372169p.Y378Dc.1132T>GSubstitution - Missense
SEPT7ENSG00000122545ENST00000494488p.E210Dc.630A>CSubstitution - Missense
STEAP3ENSG00000115107ENST00000409811p.R284Hc.851G>ASubstitution - Missense
ZNF717ENSG00000227124ENST00000400845p.R41Sc.123G>TSubstitution - Missense
UBE4BENSG00000130939ENST00000377153p.N56Kc.168T>GSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.R317Qc.950G>ASubstitution - Missense
ZNF229ENSG00000167383ENST00000291187p.E47Gc.140A>GSubstitution - Missense
C9orf62ENSG00000178243ENST00000320778p.G58Gc.174G>TSubstitution - coding silent
SLIT2ENSG00000145147ENST00000504154p.?c.2346-6T>AUnknown
CEP63ENSG00000182923ENST00000337090p.?c.789+1G>AUnknown
GRM6ENSG00000113262ENST00000231188p.T601Tc.1803C>TSubstitution - coding silent
CDH3ENSG00000062038ENST00000429102p.A662Tc.1984G>ASubstitution - Missense
ZNF630ENSG00000221994ENST00000409324p.P501Rc.1502C>GSubstitution - Missense
NKD1ENSG00000140807ENST00000268459p.L89Lc.265C>TSubstitution - coding silent
SLC25A41ENSG00000181240ENST00000321510p.P30Lc.89C>TSubstitution - Missense
CAPN3ENSG00000092529ENST00000397163p.H407Yc.1219C>TSubstitution - Missense
SLC46A3ENSG00000139508ENST00000380814p.I330Tc.989T>CSubstitution - Missense
B3GNT6ENSG00000198488ENST00000533140p.G317fs*62c.948_992>43Unknown
COL9A1ENSG00000112280ENST00000370499p.G151Gc.453C>TSubstitution - coding silent
CAPN3ENSG00000092529ENST00000318023p.H407Yc.1219C>TSubstitution - Missense
SEPT7ENSG00000122545ENST00000399034p.E225Dc.675A>CSubstitution - Missense
EXOSC5ENSG00000077348ENST00000221233p.G57Gc.171T>GSubstitution - coding silent
DCUN1D4ENSG00000109184ENST00000451288p.K109Qc.325A>CSubstitution - Missense
ZMIZ2ENSG00000122515ENST00000309315p.M7Rc.20T>GSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.D2558Dc.7674C>TSubstitution - coding silent
KCTD5ENSG00000167977ENST00000301738p.D83Yc.247G>TSubstitution - Missense
UBE2D3ENSG00000109332ENST00000357194p.Y47fs*21c.140_141delATDeletion - Frameshift
HIPK3ENSG00000110422ENST00000303296p.G1062Rc.3184G>CSubstitution - Missense
VEZTENSG00000028203ENST00000436874p.R264Lc.791G>TSubstitution - Missense
HEXAENSG00000213614ENST00000268097p.Y427fs*5c.1273_1274insTATCInsertion - Frameshift
RBM26ENSG00000139746ENST00000267229p.L787Lc.2359T>CSubstitution - coding silent
UBE4BENSG00000130939ENST00000343090p.N56Kc.168T>GSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.V726Vc.2178G>CSubstitution - coding silent
ENST00000314583_v70p.N376Tc.1127A>CSubstitution - Missense
RTKN2ENSG00000182010ENST00000395265p.?c.258-6T>GUnknown
MCF2LENSG00000126217ENST00000423482p.V113Mc.337G>ASubstitution - Missense
TNFSF18ENSG00000120337ENST00000404377p.I190Fc.568A>TSubstitution - Missense
NM_005092.2p.I168Fc.502A>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.R585Qc.1754G>ASubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.?c.7490-10C>TUnknown
LRRC1ENSG00000137269ENST00000370882p.G148Gc.444C>GSubstitution - coding silent
CEBPZENSG00000115816ENST00000234170p.E109Qc.325G>CSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.?c.3114-7T>CUnknown
ANAPC4ENSG00000053900ENST00000315368p.A38Ac.114C>TSubstitution - coding silent
SETD2ENSG00000181555ENST00000409792p.?c.4715+1G>AUnknown
ZNF28ENSG00000198538ENST00000339844p.?c.156-1G>AUnknown
CDH9ENSG00000113100ENST00000231021p.D651Dc.1953T>CSubstitution - coding silent
GPR126ENSG00000112414ENST00000296932p.L464Sc.1391T>CSubstitution - Missense
FGFR1ENSG00000077782ENST00000335922p.G807Gc.2421C>TSubstitution - coding silent
RPGRIP1LENSG00000103494ENST00000379925p.I466Tc.1397T>CSubstitution - Missense
LONP2ENSG00000102910ENST00000285737p.V798Vc.2394C>ASubstitution - coding silent
MUM1ENSG00000160953ENST00000344663p.L193Lc.579C>GSubstitution - coding silent
YIF1BENSG00000167645ENST00000339413p.T215Tc.645C>TSubstitution - coding silent
QTRTD1ENSG00000151576ENST00000281273p.V56Fc.166G>TSubstitution - Missense
GPR126ENSG00000112414ENST00000367609p.L492Sc.1475T>CSubstitution - Missense
GINM1ENSG00000055211ENST00000367419p.F107fs*6c.318delTDeletion - Frameshift
MUC16ENSG00000181143ENST00000397910p.T6151Tc.18453A>GSubstitution - coding silent
ENSG00000175604ENST00000312019p.Y160Hc.478T>CSubstitution - Missense
SMPD1ENSG00000166311ENST00000299397p.G270Sc.808G>ASubstitution - Missense
ENST00000398860p.P1082Pc.3246T>GSubstitution - coding silent
GPR156ENSG00000175697ENST00000315843p.F805Lc.2415C>GSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.N344Kc.1032C>ASubstitution - Missense
NPIPB6ENSG00000198156ENST00000532254p.S385Sc.1155G>ASubstitution - coding silent
C6orf10ENSG00000204296ENST00000447241p.S88Sc.264T>CSubstitution - coding silent
SETD2ENSG00000181555ENST00000409792p.R400Rc.1200A>GSubstitution - coding silent
FTLENSG00000087086ENST00000331825p.?c.249+2_249+3insGTUnknown
NM_006904p.T1540Mc.4619C>TSubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.L28Ic.82C>ASubstitution - Missense
D2HGDHENSG00000180902ENST00000321264p.L501Pc.1502T>CSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ZNF717ENSG00000227124ENST00000422325p.R48Kc.143G>ASubstitution - Missense
LRRC48ENSG00000171962ENST00000411504p.D433Dc.1299C>TSubstitution - coding silent
POP4ENSG00000105171ENST00000221770p.G197Rc.589G>ASubstitution - Missense
CHTF18ENSG00000127586ENST00000262315p.R410Sc.1228C>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.L98Pc.293T>CSubstitution - Missense
EMP2ENSG00000213853ENST00000359543p.A10Tc.28G>ASubstitution - Missense
C10orf53ENSG00000178645ENST00000374111p.?c.218-10G>AUnknown
SCN1AENSG00000144285ENST00000423058p.L334Vc.1000C>GSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.N2659Hc.7975A>CSubstitution - Missense
HRH3ENSG00000101180ENST00000317393p.E175Kc.523G>ASubstitution - Missense
HYDINENSG00000157423ENST00000393550p.R317Qc.950G>ASubstitution - Missense
ENSG00000183760ENST00000331256p.P222Pc.666G>ASubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.?c.3114-7T>CUnknown
NRXN1ENSG00000179915ENST00000404971p.I769fs*5c.2305delADeletion - Frameshift
FGFR1ENSG00000077782ENST00000447712p.G780Gc.2340C>TSubstitution - coding silent
PIK3R5ENSG00000141506ENST00000447110p.T272Ac.814A>GSubstitution - Missense
NM_021628.1p.S533Nc.1598G>ASubstitution - Missense
TCHHENSG00000159450ENST00000368804p.Q506Qc.1518A>GSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.R646Gc.1936C>GSubstitution - Missense
PPP1R32ENSG00000162148ENST00000338608p.V422fs*>5c.1264_1265insAInsertion - Frameshift
INSRRENSG00000027644ENST00000368195p.R105Rc.315C>TSubstitution - coding silent
IFIT1ENSG00000185745ENST00000371804p.I291Mc.873A>GSubstitution - Missense
SUPT20HENSG00000102710ENST00000360252p.M171Tc.512T>CSubstitution - Missense
RTP2ENSG00000198471ENST00000358241p.S67Sc.201T>GSubstitution - coding silent
SERTAD1ENSG00000197019ENST00000357949p.P28Pc.84T>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.L133Fc.397C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.L133Fc.397C>TSubstitution - Missense
EYSENSG00000188107ENST00000370621p.?c.7723+9T>CUnknown
DTNBENSG00000138101ENST00000406818p.T556Pc.1666A>CSubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.F59Fc.177C>TSubstitution - coding silent
ADORA2BENSG00000170425ENST00000304222p.V87Vc.261G>ASubstitution - coding silent
NXPE1ENSG00000095110ENST00000251921p.N189delNc.565_567delAACDeletion - In frame
ZMYND11ENSG00000015171ENST00000397962p.S419Rc.1255A>CSubstitution - Missense
NM_013266.1p.I711Ic.2133C>TSubstitution - coding silent
FAIM2ENSG00000135472ENST00000320634p.I109Vc.325A>GSubstitution - Missense
OR4D6ENSG00000166884ENST00000300127p.C97Yc.290G>ASubstitution - Missense
TSSK3ENSG00000162526ENST00000373534p.A80Ac.240C>TSubstitution - coding silent
NIPSNAP1ENSG00000184117ENST00000216121p.P105Qc.314C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.I721fs*5c.2161delADeletion - Frameshift
SCN1AENSG00000144285ENST00000375405p.L334Vc.1000C>GSubstitution - Missense
NM_133170.2p.N344Kc.1032C>ASubstitution - Missense
CAPN12ENSG00000182472ENST00000328867p.V19Vc.57C>TSubstitution - coding silent
COG4ENSG00000103051ENST00000323786p.?c.738+8C>TUnknown
TBXA2RENSG00000006638ENST00000411851p.R375Wc.1123C>TSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.P880Lc.2639C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.R2041Hc.6122G>ASubstitution - Missense
PTPN14ENSG00000152104ENST00000366956p.V590Ic.1768G>ASubstitution - Missense
MSH3ENSG00000113318ENST00000265081p.V393Mc.1177G>ASubstitution - Missense
KLHL25ENSG00000183655ENST00000337975p.V132Mc.394G>ASubstitution - Missense
FRYENSG00000073910ENST00000380250p.L1922Mc.5764T>ASubstitution - Missense
ENST00000328843_v70p.D913Nc.2737G>ASubstitution - Missense
GPR125ENSG00000152990ENST00000508133p.Q101Qc.303G>ASubstitution - coding silent
IVNS1ABPENSG00000116679ENST00000422754p.N66fs*21c.195_196insAInsertion - Frameshift
MYRFLENSG00000166268ENST00000299350p.G157Rc.469G>ASubstitution - Missense
NUDT5ENSG00000165609ENST00000378937p.R97Qc.290G>ASubstitution - Missense
ENST00000316490_v65p.R317Qc.950G>ASubstitution - Missense
ZBTB22ENSG00000236104ENST00000418724p.P367Lc.1100C>TSubstitution - Missense
ENST00000539307p.L170Fc.508C>TSubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.M947fs*10c.2839_2840delATDeletion - Frameshift
NISCHENSG00000010322ENST00000345716p.L1195Lc.3585C>TSubstitution - coding silent
KSR1ENSG00000141068ENST00000319524p.L316Lc.948G>TSubstitution - coding silent
SU_KSR1p.L316Lc.948G>TSubstitution - coding silent
TTI1ENSG00000101407ENST00000373448p.E528Ec.1584A>GSubstitution - coding silent
HRH3ENSG00000101180ENST00000340177p.E175Kc.523G>ASubstitution - Missense
ENST00000359590p.E390Kc.1168G>ASubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.R1319Ic.3956G>TSubstitution - Missense
NM_182530.1p.G157Rc.469G>ASubstitution - Missense
ERMAPENSG00000164010ENST00000372514p.?c.85+4G>AUnknown
ATP1A1ENSG00000163399ENST00000295598p.G604Sc.1810G>ASubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.T1079Tc.3237C>GSubstitution - coding silent
NM_002439.1p.V384Mc.1150G>ASubstitution - Missense
SEPT7ENSG00000122545ENST00000469679p.E223Dc.669A>CSubstitution - Missense
STEAP3ENSG00000115107ENST00000393110p.R294Hc.881G>ASubstitution - Missense
ENST00000532254_v68p.S385Sc.1155G>ASubstitution - coding silent
CDH23ENSG00000107736ENST00000442677p.P594Pc.1782T>GSubstitution - coding silent
DCUN1D4ENSG00000109184ENST00000334635p.K65Qc.193A>CSubstitution - Missense
LCN15ENSG00000177984ENST00000316144p.D81Dc.243C>TSubstitution - coding silent
YIF1BENSG00000167645ENST00000337679p.T212Tc.636C>TSubstitution - coding silent
ENST00000344519_v61p.P367Sc.1099C>TSubstitution - Missense
TENSG00000164458ENST00000296946p.G266Dc.797G>ASubstitution - Missense
PRPF6ENSG00000101161ENST00000266079p.?c.1525-7C>TUnknown
PUM2ENSG00000055917ENST00000338086p.R84Rc.252A>CSubstitution - coding silent
BCAS3ENSG00000141376ENST00000390652p.P928Lc.2783C>TSubstitution - Missense
ENST00000448396p.D433Dc.1299C>TSubstitution - coding silent
SIGLEC10ENSG00000142512ENST00000439889p.G254Rc.760G>ASubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.E877Dc.2631G>CSubstitution - Missense
KARSENSG00000065427ENST00000302445p.?c.482+8G>AUnknown
CAPN3ENSG00000092529ENST00000356316p.H320Yc.958C>TSubstitution - Missense
PITPNM1ENSG00000110697ENST00000534749p.A299Ac.897C>TSubstitution - coding silent
VEZTENSG00000028203ENST00000436874p.R264Lc.791G>TSubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.A662Tc.1984G>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.V263Fc.787G>TSubstitution - Missense
MYOFENSG00000138119ENST00000371502p.L192Pc.575T>CSubstitution - Missense
TAAR6ENSG00000146383ENST00000275198p.L70fs*14c.204delTDeletion - Frameshift
FGFR1ENSG00000077782ENST00000447712p.G817Gc.2451C>TSubstitution - coding silent
MYH1ENSG00000109061ENST00000226207p.V210Vc.630T>CSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.F461Fc.1383T>CSubstitution - coding silent
KRTAP10-11ENSG00000243489ENST00000334670p.P149Pc.447C>TSubstitution - coding silent
SLC13A1ENSG00000081800ENST00000194130p.?c.1134-8T>CUnknown
ZNF18ENSG00000154957ENST00000322748p.G107Ac.320G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T6151Tc.18453A>GSubstitution - coding silent
KCNH5ENSG00000140015ENST00000322893p.Q922Hc.2766G>CSubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.Q457Kc.1369C>ASubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.V299Mc.895G>ASubstitution - Missense
ACBD4ENSG00000181513ENST00000431281p.C320Sc.959G>CSubstitution - Missense
CARD14ENSG00000141527ENST00000573882p.A294Ac.882G>ASubstitution - coding silent
DTNBENSG00000138101ENST00000288642p.T556Pc.1666A>CSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.?c.1230-9C>TUnknown
TNXBENSG00000168477ENST00000375247p.T2913Kc.8738C>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
CADPS2ENSG00000081803ENST00000313070p.T389Ic.1166C>TSubstitution - Missense
TMEM44ENSG00000145014ENST00000392432p.L132Lc.396C>TSubstitution - coding silent
TMEM44ENSG00000145014ENST00000473092p.L132Lc.396C>TSubstitution - coding silent
THAP5ENSG00000177683ENST00000415914p.S202Fc.605C>TSubstitution - Missense
TMUB1ENSG00000164897ENST00000392818p.E101Vc.302A>TSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.V726Vc.2178G>CSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.I769fs*5c.2305delADeletion - Frameshift
NUP210ENSG00000132182ENST00000254508p.G1252Rc.3754G>ASubstitution - Missense
EHD3ENSG00000013016ENST00000322054p.G411Gc.1233C>TSubstitution - coding silent
LETM2ENSG00000165046ENST00000379957p.V102fs*1c.303delGDeletion - Frameshift
RPL9ENSG00000163682ENST00000295955p.?c.391+7G>AUnknown
LRPAP1ENSG00000163956ENST00000500728p.G145Rc.433G>ASubstitution - Missense
ZNF717ENSG00000227124ENST00000422325p.R48Sc.144G>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.R1319Ic.3956G>TSubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.E877Dc.2631G>CSubstitution - Missense
ATN1ENSG00000111676ENST00000396684p.S29Lc.86C>TSubstitution - Missense
CICENSG00000079432ENST00000160740p.A578Vc.1733C>TSubstitution - Missense
MYOFENSG00000138119ENST00000371501p.L192Pc.575T>CSubstitution - Missense
ENST00000316490p.R317Qc.950G>ASubstitution - Missense
HLA-DRB1ENSG00000196126ENST00000360004p.A87Dc.260C>ASubstitution - Missense
GPER1ENSG00000164850ENST00000397088p.I157Ic.471C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.P129Hc.386C>ASubstitution - Missense
SLFN12ENSG00000172123ENST00000394562p.K407Kc.1221G>ASubstitution - coding silent
CA10ENSG00000154975ENST00000285273p.G119Gc.357A>GSubstitution - coding silent
EFTUD2ENSG00000108883ENST00000426333p.V384Ic.1150G>ASubstitution - Missense
ZNF451ENSG00000112200ENST00000370708p.G533Gc.1599G>TSubstitution - coding silent
HAT1ENSG00000128708ENST00000264108p.T234Ic.701C>TSubstitution - Missense
PWP2ENSG00000241945ENST00000291576p.T598fs*43c.1790delTDeletion - Frameshift
ENST00000360853p.?c.28+6A>CUnknown
PPP1R1BENSG00000131771ENST00000580825p.R29Qc.86G>ASubstitution - Missense
WDR83ENSG00000123154ENST00000418543p.I129Vc.385A>GSubstitution - Missense
LILRA2ENSG00000239998ENST00000251376p.R165Rc.495C>GSubstitution - coding silent
OR4M2ENSG00000182974ENST00000332663p.R150Sc.450G>TSubstitution - Missense
ZMYND11ENSG00000015171ENST00000381584p.S379Rc.1135A>CSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.?c.1489-5C>AUnknown
TCF12ENSG00000140262ENST00000438423p.K15Rc.44A>GSubstitution - Missense
TCF12ENSG00000140262ENST00000452095p.K15Rc.44A>GSubstitution - Missense
HINT2ENSG00000137133ENST00000259667p.S57Pc.169T>CSubstitution - Missense
SETXENSG00000107290ENST00000224140p.Y378Dc.1132T>GSubstitution - Missense
RBM22ENSG00000086589ENST00000540000p.?c.985+9C>TUnknown
ADAMTS2ENSG00000087116ENST00000274609p.Q225*c.673C>TSubstitution - Nonsense
PROP1ENSG00000175325ENST00000308304p.T31Ic.92C>TSubstitution - Missense
ENST00000539307p.P166Hc.497C>ASubstitution - Missense
FAM185AENSG00000222011ENST00000413034p.V162Ac.485T>CSubstitution - Missense
USP16ENSG00000156256ENST00000399976p.K169*c.505A>TSubstitution - Nonsense
SLC26A7ENSG00000147606ENST00000309536p.P536Rc.1607C>GSubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.K1531Nc.4593G>CSubstitution - Missense
MRVI1ENSG00000072952ENST00000436272p.T652Tc.1956G>ASubstitution - coding silent
ORAI1ENSG00000182500ENST00000330079p.H115Nc.343C>ASubstitution - Missense
WSB2ENSG00000176871ENST00000315436p.D313Gc.938A>GSubstitution - Missense
PHC2ENSG00000134686ENST00000257118p.E438Kc.1312G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.G1321Gc.3963A>TSubstitution - coding silent
MYBPC1ENSG00000196091ENST00000361466p.T1086Tc.3258C>GSubstitution - coding silent
DRAM1ENSG00000136048ENST00000258534p.V135Mc.403G>ASubstitution - Missense
ENST00000368915p.S1021Gc.3061A>GSubstitution - Missense
CA10ENSG00000154975ENST00000340813p.G125Gc.375A>GSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000553158p.R253Cc.757C>TSubstitution - Missense
MATR3ENSG00000015479ENST00000394805p.?c.1182_1183-2del490Unknown
COL21A1ENSG00000124749ENST00000244728p.V263Fc.787G>TSubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.?c.1162-8C>GUnknown
ABCA6ENSG00000154262ENST00000284425p.I951Vc.2851A>GSubstitution - Missense
EFCAB4BENSG00000130038ENST00000440314p.G648Rc.1942G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.S1021Gc.3061A>GSubstitution - Missense
EPS8ENSG00000151491ENST00000281172p.Y491Cc.1472A>GSubstitution - Missense


COSMIC

66 mutations reported
1 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
CCDC40ENSG00000141519ENST00000374877p.D233Nc.697G>ASubstitution - Missense23856246
MYO15AENSG00000091536ENST00000205890p.A2456Gc.7367C>GSubstitution - Missense23856246
KRT36ENSG00000126337ENST00000328119p.N161fs*8c.477_478delTGDeletion - Frameshift23856246
ANKRD13DENSG00000172932ENST00000308440p.P22Lc.65C>TSubstitution - Missense23856246
HIVEP2ENSG00000010818ENST00000012134p.M947fs*10c.2837_2838delATDeletion - Frameshift23856246
KIAA0930ENSG00000100364ENST00000336156p.M149Tc.446T>CSubstitution - Missense23856246
MDN1ENSG00000112159ENST00000369393p.Y341Cc.1022A>GSubstitution - Missense23856246
MED12LENSG00000144893ENST00000474524p.N1238Sc.3713A>GSubstitution - Missense23856246
NM_032946.1p.G21Vc.62G>TSubstitution - Missense23856246
AKAP1ENSG00000121057ENST00000337714p.V815Dc.2444T>ASubstitution - Missense23856246
LPAR6ENSG00000139679ENST00000345941p.N306Yc.916A>TSubstitution - Missense23856246
TAF11ENSG00000064995ENST00000361288p.A30fs*19c.84delGDeletion - Frameshift23856246
BPTFENSG00000171634ENST00000306378p.D369Nc.1105G>ASubstitution - Missense23856246
CICENSG00000079432ENST00000160740p.A578Vc.1733C>TSubstitution - Missense23856246
FAM84AENSG00000162981ENST00000295092p.S22Lc.65C>TSubstitution - Missense23856246
TEX35ENSG00000240021ENST00000367641p.L171Pc.512T>CSubstitution - Missense23856246
PWP2ENSG00000241945ENST00000291576p.T598fs*43c.1791delTDeletion - Frameshift23856246
TCF12ENSG00000140262ENST00000438423p.K15Rc.44A>GSubstitution - Missense23856246
TEX35ENSG00000240021ENST00000319416p.L171Pc.512T>CSubstitution - Missense23856246
GPR156ENSG00000175697ENST00000315843p.F805Lc.2415C>GSubstitution - Missense23856246
ACBD4ENSG00000181513ENST00000431281p.C320Sc.959G>CSubstitution - Missense23856246
FRMPD2ENSG00000170324ENST00000374201p.L4fs*1c.9delTDeletion - Frameshift23856246
ADAMTS18ENSG00000140873ENST00000282849p.V299Mc.895G>ASubstitution - Missense23856246
NM_002439.1p.V384Mc.1150G>ASubstitution - Missense23856246
NOTCH1ENSG00000148400ENST00000277541p.C312fs*19c.931_932insCInsertion - Frameshift23856246
EVPLENSG00000167880ENST00000301607p.K756delKc.2266_2268delAAGDeletion - In frame23856246
EMP2ENSG00000213853ENST00000359543p.A10Tc.28G>ASubstitution - Missense23856246
C10orf53ENSG00000178645ENST00000374111p.?c.218-10G>AUnknown23856246
IVNS1ABPENSG00000116679ENST00000367498p.N185fs*21c.552_553insAInsertion - Frameshift23856246
NOTCH1ENSG00000148400ENST00000277541p.C312fs*19c.931_932insCInsertion - Frameshift23856246
KLHL25ENSG00000183655ENST00000337975p.V132Mc.394G>ASubstitution - Missense23856246
ANKRD13DENSG00000172932ENST00000511455p.P109Lc.326C>TSubstitution - Missense23856246
TAAR6ENSG00000146383ENST00000275198p.L70fs*14c.207delTDeletion - Frameshift23856246
MSH3ENSG00000113318ENST00000265081p.V393Mc.1177G>ASubstitution - Missense23856246
FRYENSG00000073910ENST00000380250p.L1922Mc.5764T>ASubstitution - Missense23856246
PCDHA4ENSG00000204967ENST00000356878p.L528Vc.1582C>GSubstitution - Missense23856246
GRIN2AENSG00000183454ENST00000396573p.A243Sc.727G>TSubstitution - Missense23856246
RARAENSG00000131759ENST00000394081p.S55Pc.163T>CSubstitution - Missense23856246
ITPR2ENSG00000123104ENST00000381340p.D1405Yc.4213G>TSubstitution - Missense23856246
NXPE1ENSG00000095110ENST00000251921p.N189delNc.564_566delCAADeletion - In frame23856246
YY2ENSG00000230797ENST00000429584p.D103Yc.307G>TSubstitution - Missense23856246
METENSG00000105976ENST00000318493p.V1238Ic.3712G>ASubstitution - Missense23856246
NXPE1ENSG00000095110ENST00000424269p.N331delNc.990_992delCAADeletion - In frame23856246
OR8I2ENSG00000172154ENST00000302124p.L166fs*19c.497delTDeletion - Frameshift23856246
CLDN16ENSG00000113946ENST00000264734p.A56fs*16c.166delGDeletion - Frameshift23856246
TCF12ENSG00000140262ENST00000438423p.K15Rc.44A>GSubstitution - Missense23856246
TCF12ENSG00000140262ENST00000452095p.K15Rc.44A>GSubstitution - Missense23856246
SETXENSG00000107290ENST00000224140p.Y378Dc.1132T>GSubstitution - Missense23856246
UBE2D3ENSG00000109332ENST00000357194p.Y47fs*21c.138_139delATDeletion - Frameshift23856246
HINT2ENSG00000137133ENST00000259667p.S57Pc.169T>CSubstitution - Missense23856246
BPTFENSG00000171634ENST00000335221p.D369Nc.1105G>ASubstitution - Missense23856246
DPYDENSG00000188641ENST00000370192p.D873Ec.2619C>GSubstitution - Missense23856246
TEX35ENSG00000240021ENST00000367643p.L171Pc.512T>CSubstitution - Missense23856246
LTFENSG00000012223ENST00000231751p.E579Dc.1737G>TSubstitution - Missense23856246
RIN1ENSG00000174791ENST00000311320p.E716*c.2146G>TSubstitution - Nonsense23856246
PCDHA4ENSG00000204967ENST00000530339p.L528Vc.1582C>GSubstitution - Missense23856246
TMUB1ENSG00000164897ENST00000392818p.V104_L105insPLVc.302_303insGCCCCTCGTInsertion - In frame23856246
KIAA0930ENSG00000100364ENST00000251993p.M154Tc.461T>CSubstitution - Missense23856246
FAM101AENSG00000178882ENST00000324038p.R77Hc.230G>ASubstitution - Missense23856246
ADAMTS2ENSG00000087116ENST00000251582p.Q225*c.673C>TSubstitution - Nonsense23856246
UBE2D3ENSG00000109332ENST00000343106p.Y45fs*21c.132_133delATDeletion - Frameshift23856246
OR10H3ENSG00000171936ENST00000305892p.S232fs*6c.693_694ins10Insertion - Frameshift23856246
ATAD5ENSG00000176208ENST00000321990p.M287_S288delMSc.861_866delGTCAATDeletion - In frame23856246
USP49ENSG00000164663ENST00000373006p.D636fs*>7c.1894_1895insGTGGGInsertion - Frameshift23856246
GAS2L3ENSG00000139354ENST00000266754p.Y171*c.513C>GSubstitution - Nonsense23856246
CCDC40ENSG00000141519ENST00000397545p.D233Nc.697G>ASubstitution - Missense23856246