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CAL-33 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

679 mutations reported
253 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
MRPL55ENSG00000162910ENST00000366731p.H101Hc.303C>TSubstitution - coding silent
IBA57ENSG00000181873ENST00000366711p.L285Lc.855G>ASubstitution - coding silent
HSPG2ENSG00000142798ENST00000374695p.P3975Pc.11925T>CSubstitution - coding silent
HSPG2ENSG00000142798ENST00000374695p.P2051Lc.6152C>TSubstitution - Missense
ITGB1ENSG00000150093ENST00000396033p.H690Hc.2070T>CSubstitution - coding silent
ZNF438ENSG00000183621ENST00000361310p.M300Kc.899T>ASubstitution - Missense
IPO5ENSG00000065150ENST00000261574p.L507Mc.1519C>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.N1506Sc.4517A>GSubstitution - Missense
NM_015057.1p.N1506Sc.4517A>GSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.I4485Vc.13453A>GSubstitution - Missense
ACACBENSG00000076555ENST00000543201p.E241Kc.721G>ASubstitution - Missense
THSD1ENSG00000136114ENST00000258613p.L221Lc.663G>ASubstitution - coding silent
SMARCC2ENSG00000139613ENST00000267064p.N1141Tc.3422A>CSubstitution - Missense
GOLGA6BENSG00000215186ENST00000421285p.E334Kc.1000G>ASubstitution - Missense
HOXC9ENSG00000180806ENST00000303450p.H78Pc.233A>CSubstitution - Missense
FAM47AENSG00000185448ENST00000346193p.S519Sc.1557G>ASubstitution - coding silent
TENM3ENSG00000218336ENST00000511685p.Y1465Yc.4395C>TSubstitution - coding silent
PRPF40BENSG00000110844ENST00000380281p.P14Pc.42A>CSubstitution - coding silent
NFASCENSG00000163531ENST00000339876p.V663Ic.1987G>ASubstitution - Missense
NFASCENSG00000163531ENST00000360049p.V659Ic.1975G>ASubstitution - Missense
EP300ENSG00000100393ENST00000263253p.W1466Lc.4397G>TSubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.A544Vc.1631C>TSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.R762Qc.2285G>ASubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.P1774Pc.5322G>ASubstitution - coding silent
ADAM29ENSG00000168594ENST00000359240p.T818Tc.2454G>ASubstitution - coding silent
ADAM29ENSG00000168594ENST00000359240p.Q803*c.2407C>TSubstitution - Nonsense
CLVS2ENSG00000146352ENST00000275162p.K117Kc.351G>ASubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.Q1364*c.4090C>TSubstitution - Nonsense
CD1AENSG00000158477ENST00000289429p.Y101Yc.303C>TSubstitution - coding silent
ENST00000361570_v62p.G143Vc.428G>TSubstitution - Missense
CDKN2AENSG00000147889ENST00000446177p.E88*c.262G>TSubstitution - Nonsense
PHACTR2ENSG00000112419ENST00000305766p.V285Ic.853G>ASubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.H1047Rc.3140A>GSubstitution - Missense
THRAP3ENSG00000054118ENST00000354618p.R774Rc.2322A>GSubstitution - coding silent
ENST00000414315p.R43Hc.128G>ASubstitution - Missense
ENST00000545858p.R82Hc.245G>ASubstitution - Missense
NM_139238.1p.C49Cc.147C>TSubstitution - coding silent
NM_006218.1p.H1047Rc.3140A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.H2009Nc.6025C>ASubstitution - Missense
ABTB2ENSG00000166016ENST00000298992p.?c.1005+5G>AUnknown
KMT2AENSG00000118058ENST00000534358p.A1286Ac.3858C>TSubstitution - coding silent
NM_005933.1p.A1286Ac.3858C>TSubstitution - coding silent
NXPE1ENSG00000095110ENST00000424269p.R131Sc.393G>TSubstitution - Missense
ENST00000355015p.G85Gc.255C>ASubstitution - coding silent
RNASELENSG00000135828ENST00000367559p.A66Tc.196G>ASubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.H98Nc.292C>ASubstitution - Missense
CYP2R1ENSG00000186104ENST00000334636p.A498Tc.1492G>ASubstitution - Missense
CYP2R1ENSG00000186104ENST00000334636p.K173Kc.519A>GSubstitution - coding silent
KRTAP5-1ENSG00000205869ENST00000382171p.G20Sc.58G>ASubstitution - Missense
CLCNKBENSG00000184908ENST00000375679p.P686Sc.2056C>TSubstitution - Missense
ADAMTS15ENSG00000166106ENST00000299164p.A877Ac.2631C>TSubstitution - coding silent
TOMM40LENSG00000158882ENST00000367987p.N108Sc.323A>GSubstitution - Missense
OTUD7AENSG00000169918ENST00000307050p.K247Rc.740A>GSubstitution - Missense
ZBTB8AENSG00000160062ENST00000373510p.E205Qc.613G>CSubstitution - Missense
APPL2ENSG00000136044ENST00000258530p.Y48Cc.143A>GSubstitution - Missense
TXNRD1ENSG00000198431ENST00000378070p.K194Kc.582G>ASubstitution - coding silent
TXNRD1ENSG00000198431ENST00000503506p.K95Kc.285G>ASubstitution - coding silent
COL17A1ENSG00000065618ENST00000353479p.?c.838+99_1620>CUnknown
ALDH3B2ENSG00000132746ENST00000530069p.Y234*c.702C>ASubstitution - Nonsense
PHRF1ENSG00000070047ENST00000416188p.T594Ic.1781C>TSubstitution - Missense
RAB3IL1ENSG00000167994ENST00000394836p.Q51Rc.152A>GSubstitution - Missense
ADCY4ENSG00000129467ENST00000310677p.H211Hc.633C>TSubstitution - coding silent
G2E3ENSG00000092140ENST00000206595p.G562Vc.1685G>TSubstitution - Missense
PCK2ENSG00000100889ENST00000396973p.T235Tc.705C>ASubstitution - coding silent
EDDM3AENSG00000181562ENST00000326842p.G131Gc.393A>GSubstitution - coding silent
RNASE2ENSG00000169385ENST00000304625p.R62Qc.185G>ASubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.?c.3749-6C>AUnknown
RPGRIP1ENSG00000092200ENST00000400017p.?c.2597-6C>AUnknown
NM_001380.2p.K1222Ec.3664A>GSubstitution - Missense
ENST00000368915p.S2283Yc.6848C>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.S2154Yc.6461C>ASubstitution - Missense
C10orf120ENSG00000183559ENST00000329446p.Y185Cc.554A>GSubstitution - Missense
CHST15ENSG00000182022ENST00000421115p.L106Lc.318G>TSubstitution - coding silent
ARAP1ENSG00000186635ENST00000393609p.R1210Wc.3628C>TSubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.R965Wc.2893C>TSubstitution - Missense
GALNT6ENSG00000139629ENST00000356317p.V299Ic.895G>ASubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.A1360Ac.4080G>ASubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.L507Ic.1519C>ASubstitution - Missense
RERGENSG00000134533ENST00000256953p.R170Wc.508C>TSubstitution - Missense
ATP2B1ENSG00000070961ENST00000261173p.V120Vc.360A>GSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.W4017*c.12050G>ASubstitution - Nonsense
SU_OBSCN.1p.W3887*c.11660G>ASubstitution - Nonsense
PPFIA2ENSG00000139220ENST00000549396p.P976Tc.2926C>ASubstitution - Missense
INSRRENSG00000027644ENST00000368195p.W728Rc.2182T>CSubstitution - Missense
INSRRENSG00000027644ENST00000368195p.W728Rc.2182T>CSubstitution - Missense
FCRL4ENSG00000163518ENST00000271532p.Y451Cc.1352A>GSubstitution - Missense
FCRL4ENSG00000163518ENST00000271532p.E204Ec.612G>ASubstitution - coding silent
CELA2BENSG00000215704ENST00000375910p.Q115*c.343C>TSubstitution - Nonsense
OR51E2ENSG00000167332ENST00000396950p.L60Lc.180C>TSubstitution - coding silent
ATG13ENSG00000175224ENST00000528494p.G77Rc.229G>ASubstitution - Missense
HSD17B12ENSG00000149084ENST00000278353p.L145Fc.435G>CSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T1630Tc.4890G>ASubstitution - coding silent
ENST00000349637p.T1633Tc.4899G>ASubstitution - coding silent
CYP2C19ENSG00000165841ENST00000371321p.R124Qc.371G>ASubstitution - Missense
SORBS1ENSG00000095637ENST00000371228p.G91Gc.273A>GSubstitution - coding silent
CDHR1ENSG00000148600ENST00000372117p.?c.526-2A>GUnknown
CDHR1ENSG00000148600ENST00000332904p.?c.526-2A>GUnknown
CDHR1ENSG00000148600ENST00000372117p.?c.1783-5C>TUnknown
KCNMA1ENSG00000156113ENST00000404857p.R640Qc.1919G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.R640Qc.1919G>ASubstitution - Missense
SEC24CENSG00000176986ENST00000345254p.F160Fc.480T>CSubstitution - coding silent
ACBD3ENSG00000182827ENST00000366812p.A370Ac.1110A>TSubstitution - coding silent
TNFRSF10BENSG00000120889ENST00000276431p.?c.364+1G>TUnknown
LMOD3ENSG00000163380ENST00000420581p.L371Mc.1111C>ASubstitution - Missense
RFX3ENSG00000080298ENST00000382004p.V14_T15>Gc.41_44TGAC>GComplex - deletion inframe
RFX3ENSG00000080298ENST00000358730p.V14_T15>Gc.41_44TGAC>GComplex - deletion inframe
ACO1ENSG00000122729ENST00000309951p.F585Fc.1755T>CSubstitution - coding silent
ACO1ENSG00000122729ENST00000379923p.F585Fc.1755T>CSubstitution - coding silent
DDX58ENSG00000107201ENST00000379883p.P917Sc.2749C>TSubstitution - Missense
CPA5ENSG00000158525ENST00000393213p.R125Hc.374G>ASubstitution - Missense
APCDD1LENSG00000198768ENST00000371149p.G108Sc.322G>ASubstitution - Missense
RBM12ENSG00000244462ENST00000374104p.P240Ac.718C>GSubstitution - Missense
ASPDHENSG00000204653ENST00000376916p.L124Pc.371T>CSubstitution - Missense
MIER2ENSG00000105556ENST00000264819p.S141Sc.423A>GSubstitution - coding silent
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.R3519Qc.10556G>ASubstitution - Missense
NM_017876.3p.Y79Yc.237C>TSubstitution - coding silent
THOC2ENSG00000125676ENST00000245838p.P1444Pc.4332T>ASubstitution - coding silent
OTTHUMT00000058153.1p.P1365Pc.4095T>ASubstitution - coding silent
TNP1ENSG00000118245ENST00000236979p.G11Dc.32G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.N465Kc.1395C>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.D913Yc.2737G>TSubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.G591Gc.1773T>GSubstitution - coding silent
PDYNENSG00000101327ENST00000217305p.K219Nc.657G>TSubstitution - Missense
ZNF317ENSG00000130803ENST00000247956p.C476Cc.1428C>TSubstitution - coding silent
WNT3ENSG00000108379ENST00000225512p.?c.588+9G>AUnknown
CRHR1ENSG00000120088ENST00000314537p.T53Ic.158C>TSubstitution - Missense
CDH13ENSG00000140945ENST00000431540p.I38Ic.114C>TSubstitution - coding silent
ZMYM5ENSG00000132950ENST00000382905p.S263Lc.788C>TSubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.P4151Pc.12453A>TSubstitution - coding silent
RPS6KA1ENSG00000117676ENST00000531382p.A178Vc.533C>TSubstitution - Missense
RPS6KA1ENSG00000117676ENST00000374168p.A169Vc.506C>TSubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.?c.2821+4A>CUnknown
STX2ENSG00000111450ENST00000261653p.N14Sc.41A>GSubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.H807Hc.2421C>TSubstitution - coding silent
SETD8ENSG00000183955ENST00000330479p.P60Lc.179C>TSubstitution - Missense
CREBZFENSG00000137504ENST00000490820p.S351delSc.1051_1053delTCTDeletion - In frame
MUC1ENSG00000185499ENST00000368395p.V60Vc.180A>CSubstitution - coding silent
SLC5A9ENSG00000117834ENST00000236495p.P152Lc.455C>TSubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.R2625Qc.7874G>ASubstitution - Missense
SLC28A2ENSG00000137860ENST00000347644p.G650Rc.1948G>ASubstitution - Missense
CCNDBP1ENSG00000166946ENST00000300213p.A121Tc.361G>ASubstitution - Missense
ZSCAN29ENSG00000140265ENST00000396976p.G175Rc.523G>ASubstitution - Missense
NADKENSG00000008130ENST00000344463p.G263Gc.789G>ASubstitution - coding silent
FLGENSG00000143631ENST00000368799p.G3547Ec.10640G>ASubstitution - Missense
HAO2ENSG00000116882ENST00000325945p.L173*c.518T>ASubstitution - Nonsense
ENST00000242630p.L117Lc.349C>TSubstitution - coding silent
CITENSG00000122966ENST00000392521p.V2053Mc.6157G>ASubstitution - Missense
CITENSG00000122966ENST00000261833p.V2011Mc.6031G>ASubstitution - Missense
MED13LENSG00000123066ENST00000281928p.D714Ec.2142C>GSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R1480Cc.4438C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R1480Cc.4438C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.V365Ac.1094T>CSubstitution - Missense
SART1ENSG00000175467ENST00000312397p.S762Sc.2286C>TSubstitution - coding silent
ENST00000359762p.R138Qc.413G>ASubstitution - Missense
SFMBT2ENSG00000198879ENST00000361972p.G303Ec.908G>ASubstitution - Missense
ARID5BENSG00000150347ENST00000279873p.M744Tc.2231T>CSubstitution - Missense
CHD2ENSG00000173575ENST00000394196p.K1291Kc.3873A>GSubstitution - coding silent
NM_001271.1p.K1291Kc.3873A>GSubstitution - coding silent
MASTLENSG00000120539ENST00000375946p.A349Pc.1045G>CSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.Y1639Cc.4916A>GSubstitution - Missense
ENST00000377072_v68p.R704fs*4c.2111delGDeletion - Frameshift
NOMO3ENSG00000103226ENST00000399336p.?c.302-9G>AUnknown
XYLT1ENSG00000103489ENST00000261381p.I483Ic.1449C>TSubstitution - coding silent
NME3ENSG00000103024ENST00000219302p.E160Kc.478G>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.V2008Vc.6024T>GSubstitution - coding silent
WDR36ENSG00000134987ENST00000506538p.K413Kc.1239A>GSubstitution - coding silent
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
MAP4K4ENSG00000071054ENST00000350198p.?c.3117+8G>AUnknown
ZNF256ENSG00000152454ENST00000282308p.V316Gc.947T>GSubstitution - Missense
ZNF256ENSG00000152454ENST00000282308p.V316Gc.947T>GSubstitution - Missense
ENST00000380830p.G123Ec.368G>ASubstitution - Missense
ENST00000284020p.K282Rc.845A>GSubstitution - Missense
XM_497119.1p.?c.8743_8766+35del59Unknown
HDAC6ENSG00000094631ENST00000334136p.?c.1325-9C>TUnknown
CASKENSG00000147044ENST00000378166p.M122Lc.364A>TSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.L2376Vc.7126C>GSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.T1049Tc.3147A>GSubstitution - coding silent
SLC4A1APENSG00000163798ENST00000326019p.R400Rc.1200G>ASubstitution - coding silent
IFT172ENSG00000138002ENST00000260570p.R264Rc.792G>ASubstitution - coding silent
PRR14LENSG00000183530ENST00000327423p.T1480Ac.4438A>GSubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.T1480Ac.4438A>GSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.T2446Tc.7338G>ASubstitution - coding silent
LILRB5ENSG00000105609ENST00000450632p.Q543Hc.1629G>CSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.K2734Nc.8202G>CSubstitution - Missense
ZNF677ENSG00000197928ENST00000333952p.S276Wc.827C>GSubstitution - Missense
BANPENSG00000172530ENST00000393207p.P137Pc.411C>TSubstitution - coding silent
C16orf96ENSG00000205832ENST00000444310p.N171Nc.513C>TSubstitution - coding silent
UBALD1ENSG00000153443ENST00000283474p.A152Ac.456T>ASubstitution - coding silent
PRSS36ENSG00000178226ENST00000268281p.Y646Nc.1936T>ASubstitution - Missense
ITGADENSG00000156886ENST00000389202p.P543Lc.1628C>TSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.A171Tc.511G>ASubstitution - Missense
NBEAL1ENSG00000144426ENST00000449802p.S282Cc.844A>TSubstitution - Missense
CASP8ENSG00000064012ENST00000264275p.R430*c.1288C>TSubstitution - Nonsense
CASP8ENSG00000064012ENST00000264275p.R430*c.1288C>TSubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.?c.46486+7G>AUnknown
NM_003319p.?c.26995+7G>AUnknown
ENST00000356127p.N25202Ic.75605A>TSubstitution - Missense
NM_003319p.N18707Ic.56120A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R19706Cc.59116C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R13334Cc.40000C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.N18832Ic.56495A>TSubstitution - Missense
XKR3ENSG00000172967ENST00000331428p.S455Nc.1364G>ASubstitution - Missense
PIAS2ENSG00000078043ENST00000324794p.D155fs*1c.462_463insTInsertion - Frameshift
PIAS2ENSG00000078043ENST00000398654p.D155fs*1c.462_463insTInsertion - Frameshift
DYMENSG00000141627ENST00000269445p.?c.620+10T>GUnknown
ENSG00000173213ENST00000308911p.H307Yc.919C>TSubstitution - Missense
GRINAENSG00000178719ENST00000395068p.P110Lc.329C>TSubstitution - Missense
ZNF394ENSG00000160908ENST00000337673p.P259Sc.775C>TSubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.A760Ac.2280C>TSubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.L142Fc.424C>TSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.L142Fc.424C>TSubstitution - Missense
TDP2ENSG00000111802ENST00000378198p.P155Pc.465C>TSubstitution - coding silent
HIST1H1CENSG00000187837ENST00000343677p.K172Kc.516G>ASubstitution - coding silent
ENST00000273600p.?c.5943+7C>TUnknown
DNAH1ENSG00000114841ENST00000420323p.?c.5943+7C>TUnknown
URB1ENSG00000142207ENST00000382751p.D547Nc.1639G>ASubstitution - Missense
RAPGEFL1ENSG00000108352ENST00000264644p.I37Ic.111C>TSubstitution - coding silent
ERBB2ENSG00000141736ENST00000269571p.I86Ic.258C>TSubstitution - coding silent
TMPRSS11AENSG00000187054ENST00000334830p.A301Vc.902C>TSubstitution - Missense
YTHDC1ENSG00000083896ENST00000344157p.S524Sc.1572C>TSubstitution - coding silent
NM_015009.1p.G674Cc.2020G>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.Q1585Hc.4755A>CSubstitution - Missense
ADAM17ENSG00000151694ENST00000310823p.G242Ec.725G>ASubstitution - Missense
XM_290867.2p.R278Cc.832C>TSubstitution - Missense
GPS1ENSG00000169727ENST00000355130p.L440Lc.1320G>ASubstitution - coding silent
CSNK1DENSG00000141551ENST00000314028p.R160Sc.478C>ASubstitution - Missense
ENST00000328585_v65p.P50Lc.149C>TSubstitution - Missense
ENST00000582115p.R640Cc.1918C>TSubstitution - Missense
MRC2ENSG00000011028ENST00000303375p.?c.2635-2A>TUnknown
ENST00000319379p.D4821Ec.14463C>ASubstitution - Missense
CCHCR1ENSG00000204536ENST00000376266p.V373Lc.1117G>TSubstitution - Missense
CLINT1ENSG00000113282ENST00000523094p.M427Vc.1279A>GSubstitution - Missense
GRIA1ENSG00000155511ENST00000285900p.L741Fc.2223G>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.K112Ec.334A>GSubstitution - Missense
IFNL1ENSG00000182393ENST00000333625p.V169Dc.506T>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S775Sc.2325C>GSubstitution - coding silent
PPARGC1BENSG00000155846ENST00000309241p.E923Gc.2768A>GSubstitution - Missense
GFI1BENSG00000165702ENST00000372122p.D56Dc.168C>TSubstitution - coding silent
DIAPH1ENSG00000131504ENST00000398557p.P297Lc.890C>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.?c.354+12_586+754del1565Unknown
CACNA1GENSG00000006283ENST00000359106p.?c.354+12_586+754del1565Unknown
AOC3ENSG00000131471ENST00000308423p.R623Kc.1868G>ASubstitution - Missense
DNAJC7ENSG00000168259ENST00000457167p.E358Vc.1073A>TSubstitution - Missense
THEMISENSG00000172673ENST00000368248p.T578Kc.1733C>ASubstitution - Missense
C9orf84ENSG00000165181ENST00000374283p.A141Ac.423A>TSubstitution - coding silent
MCM9ENSG00000111877ENST00000316316p.D24Nc.70G>ASubstitution - Missense
MCM9ENSG00000111877ENST00000316068p.D24Nc.70G>ASubstitution - Missense
LMBRD1ENSG00000168216ENST00000370577p.V119Vc.357C>GSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.V1886Mc.5656G>ASubstitution - Missense
EP300ENSG00000100393ENST00000263253p.?c.3728+1G>TUnknown
MYH9ENSG00000100345ENST00000216181p.E929_R930insEc.2787_2788insGAGInsertion - In frame
ANKRD12ENSG00000101745ENST00000262126p.S1041Nc.3122G>ASubstitution - Missense
MBLAC2ENSG00000176055ENST00000316610p.R182*c.544C>TSubstitution - Nonsense
MSH3ENSG00000113318ENST00000265081p.L1006fs*10c.3016_3017delCTDeletion - Frameshift
FAM193AENSG00000125386ENST00000382839p.P481Rc.1442C>GSubstitution - Missense
MFSD10ENSG00000109736ENST00000355443p.L167Lc.501G>ASubstitution - coding silent
LRBAENSG00000198589ENST00000357115p.S2309Rc.6925A>CSubstitution - Missense
GRK7ENSG00000114124ENST00000264952p.T262Nc.785C>ASubstitution - Missense
ACKR4ENSG00000129048ENST00000249887p.V53Ic.157G>ASubstitution - Missense
CEP63ENSG00000182923ENST00000337090p.?c.44+9G>AUnknown
NM_006596.3p.?c.1661-10C>AUnknown
GAP43ENSG00000172020ENST00000393780p.N186Yc.556A>TSubstitution - Missense
ZNF689ENSG00000156853ENST00000287461p.K74Nc.222A>TSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.T400Ic.1199C>TSubstitution - Missense
SPHK2ENSG00000063176ENST00000443164p.G124Sc.370G>ASubstitution - Missense
ENST00000344519_v61p.K434fs*1c.1296_1297insTInsertion - Frameshift
RAB3AENSG00000105649ENST00000222256p.S7Sc.21G>ASubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.E1020Dc.3060G>TSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.E1020Dc.3060G>TSubstitution - Missense
ZDHHC15ENSG00000102383ENST00000373367p.E318Kc.952G>ASubstitution - Missense
FAM104BENSG00000182518ENST00000332132p.N66Kc.198C>GSubstitution - Missense
FAM104BENSG00000182518ENST00000425133p.N66Kc.198C>GSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380566p.C49Cc.147C>TSubstitution - coding silent
NFIBENSG00000147862ENST00000397581p.?c.563-1G>AUnknown
FREM1ENSG00000164946ENST00000422223p.D590Vc.1769A>TSubstitution - Missense
UAP1L1ENSG00000197355ENST00000360271p.R77Hc.230G>ASubstitution - Missense
EIF2AK1ENSG00000086232ENST00000199389p.K400Mc.1199A>TSubstitution - Missense
ACHEENSG00000087085ENST00000302913p.Q530*c.1588C>TSubstitution - Nonsense
ACHEENSG00000087085ENST00000412389p.Q530*c.1588C>TSubstitution - Nonsense
MAST4ENSG00000069020ENST00000405643p.K1279Rc.3836A>GSubstitution - Missense
SCO2ENSG00000130489ENST00000395693p.R114Hc.341G>ASubstitution - Missense
PNPLA5ENSG00000100341ENST00000216177p.C68Fc.203G>TSubstitution - Missense
ENST00000344062p.V72Mc.214G>ASubstitution - Missense
CHST13ENSG00000180767ENST00000319340p.P191Lc.572C>TSubstitution - Missense
RBM44ENSG00000177483ENST00000316997p.R272Kc.815G>ASubstitution - Missense
PRKAG3ENSG00000115592ENST00000233944p.L9Mc.25C>ASubstitution - Missense
DESENSG00000175084ENST00000373960p.A21Ac.63C>TSubstitution - coding silent
CNTNAP5ENSG00000155052ENST00000431078p.A813Ac.2439C>ASubstitution - coding silent
IGF2RENSG00000197081ENST00000356956p.D1365Gc.4094A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.T7274Tc.21822T>GSubstitution - coding silent
PHACTR2ENSG00000112419ENST00000440869p.V376Ic.1126G>ASubstitution - Missense
PCDH18ENSG00000189184ENST00000344876p.A68Tc.202G>ASubstitution - Missense
ZNF354CENSG00000177932ENST00000315475p.E139Kc.415G>ASubstitution - Missense
MSL3ENSG00000005302ENST00000398527p.A80Dc.239C>ASubstitution - Missense
UNC13BENSG00000198722ENST00000396787p.?c.3987+4A>GUnknown
ADAMTSL2ENSG00000197859ENST00000393061p.S823Sc.2469G>ASubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.?c.10828-9T>GUnknown
CSMD3ENSG00000164796ENST00000343508p.?c.10709-10T>GUnknown
EIF2AK1ENSG00000086232ENST00000536084p.K276Mc.827A>TSubstitution - Missense
ZNF680ENSG00000173041ENST00000309683p.P349Sc.1045C>TSubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.A760Ac.2280C>TSubstitution - coding silent
ENST00000328843_v70p.V4126Ac.12377T>CSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.L142Fc.424C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.T6957Tc.20871T>GSubstitution - coding silent
MAST4ENSG00000069020ENST00000403666p.K1269Rc.3806A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.K1264Rc.3791A>GSubstitution - Missense
CLINT1ENSG00000113282ENST00000411809p.M445Vc.1333A>GSubstitution - Missense
TCF25ENSG00000141002ENST00000263347p.L351Lc.1051C>TSubstitution - coding silent
HLA-AENSG00000206503ENST00000376806p.?c.1_16del16Unknown
ZNF737ENSG00000237440ENST00000427401p.K435fs*1c.1299_1300insTInsertion - Frameshift
PDZRN3ENSG00000121440ENST00000263666p.G674Cc.2020G>TSubstitution - Missense
FGF12ENSG00000114279ENST00000445105p.V49Vc.147G>ASubstitution - coding silent
IFT172ENSG00000138002ENST00000416524p.R243Rc.729G>ASubstitution - coding silent
ITGAVENSG00000138448ENST00000433736p.?c.493+2T>CUnknown
GHRHENSG00000118702ENST00000373614p.P21Pc.63A>CSubstitution - coding silent
SPHK2ENSG00000063176ENST00000340932p.G26Sc.76G>ASubstitution - Missense
RGL3ENSG00000205517ENST00000393423p.R514Cc.1540C>TSubstitution - Missense
POLIENSG00000101751ENST00000579534p.Q540*c.1618C>TSubstitution - Nonsense
NM_007195.1p.Q515*c.1543C>TSubstitution - Nonsense
CLN3ENSG00000188603ENST00000354630p.?c.461-7C>TUnknown
UBALD1ENSG00000153443ENST00000590891p.A187Ac.561T>ASubstitution - coding silent
RPGRIP1ENSG00000092200ENST00000206660p.?c.3749-6C>AUnknown
NFASCENSG00000163531ENST00000367172p.V663Ic.1987G>ASubstitution - Missense
TXNRD1ENSG00000198431ENST00000427956p.K210Kc.630G>ASubstitution - coding silent
OR5AR1ENSG00000172459ENST00000302969p.S291Cc.871A>TSubstitution - Missense
ARID5BENSG00000150347ENST00000309334p.M501Tc.1502T>CSubstitution - Missense
CD164L2ENSG00000174950ENST00000374027p.A69Vc.206C>TSubstitution - Missense
CD164L2ENSG00000174950ENST00000374025p.A69Vc.206C>TSubstitution - Missense
TFAP2DENSG00000008197ENST00000008391p.L170Mc.508C>ASubstitution - Missense
HLA-DOAENSG00000204252ENST00000229829p.A198Ac.594G>ASubstitution - coding silent
VPS52ENSG00000223501ENST00000445902p.A221Tc.661G>ASubstitution - Missense
ZNF454ENSG00000178187ENST00000320129p.?c.33+1G>TUnknown
ADAM29ENSG00000168594ENST00000359240p.R804Sc.2412G>CSubstitution - Missense
IL1RAPENSG00000196083ENST00000443369p.L583Lc.1749T>GSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.R972Wc.2914C>TSubstitution - Missense
C9orf114ENSG00000198917ENST00000361256p.A363Tc.1087G>ASubstitution - Missense
GARNL3ENSG00000136895ENST00000373387p.L963Lc.2887T>CSubstitution - coding silent
PDCLENSG00000136940ENST00000259467p.V62Mc.184G>ASubstitution - Missense
FIGNENSG00000182263ENST00000333129p.S311Nc.932G>ASubstitution - Missense
SNX13ENSG00000071189ENST00000428135p.T478Tc.1434C>ASubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.V961Vc.2883A>GSubstitution - coding silent
TANC1ENSG00000115183ENST00000263635p.T988Ac.2962A>GSubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.L2459Lc.7377A>GSubstitution - coding silent
ZNF335ENSG00000198026ENST00000322927p.I141Ic.423C>TSubstitution - coding silent
JPH2ENSG00000149596ENST00000372980p.?c.2010+2T>GUnknown
CICENSG00000079432ENST00000160740p.G935Gc.2805T>GSubstitution - coding silent
ANKLE1ENSG00000160117ENST00000404261p.?c.461-8A>CUnknown
ENST00000291449p.?c.419-8A>CUnknown
AKAP8LENSG00000011243ENST00000397410p.K441Rc.1322A>GSubstitution - Missense
ASF1BENSG00000105011ENST00000263382p.R137Rc.411G>ASubstitution - coding silent
NDUFAB1ENSG00000004779ENST00000007516p.M105Lc.313A>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.A2511Ac.7533C>TSubstitution - coding silent
ENST00000335106p.H601Hc.1803C>TSubstitution - coding silent
ENST00000316490p.P1058Lc.3173C>TSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.?c.2529+3A>GUnknown
ENST00000316490p.?c.2529+3A>GUnknown
HLA-DOAENSG00000204252ENST00000450833p.A168Ac.504G>ASubstitution - coding silent
ZNF438ENSG00000183621ENST00000452305p.M290Kc.869T>ASubstitution - Missense
MSH5ENSG00000204410ENST00000375742p.P181Rc.542C>GSubstitution - Missense
NBASENSG00000151779ENST00000281513p.P1499Sc.4495C>TSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
HBS1LENSG00000112339ENST00000367837p.?c.1689-7C>GUnknown
ADAMTS13ENSG00000160323ENST00000371929p.M496Vc.1486A>GSubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.?c.354+12_586+754del1565Unknown
FAT1ENSG00000083857ENST00000441802p.K3504*c.10510A>TSubstitution - Nonsense
UAP1L1ENSG00000197355ENST00000409858p.R200Hc.599G>ASubstitution - Missense
FAM47AENSG00000185448ENST00000346193p.S506Sc.1518G>ASubstitution - coding silent
NLRP6ENSG00000174885ENST00000312165p.R531Hc.1592G>ASubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.L605Pc.1814T>CSubstitution - Missense
TPSD1ENSG00000095917ENST00000211076p.?c.255-1G>AUnknown
ATP2B1ENSG00000070961ENST00000359142p.V120Vc.360A>GSubstitution - coding silent
ENSG00000215033ENST00000335083p.P33Pc.99C>TSubstitution - coding silent
NINENSG00000100503ENST00000245441p.R134Rc.402G>ASubstitution - coding silent
GPR137ENSG00000173264ENST00000438980p.I358Ic.1074C>TSubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.Q2237Kc.6709C>ASubstitution - Missense
ARHGEF11ENSG00000132694ENST00000315174p.P898Pc.2694C>TSubstitution - coding silent
FGF12ENSG00000114279ENST00000454309p.V111Vc.333G>ASubstitution - coding silent
HTR5AENSG00000157219ENST00000287907p.P241Sc.721C>TSubstitution - Missense
ENST00000316490_v65p.P1106Lc.3317C>TSubstitution - Missense
ZNF260ENSG00000254004ENST00000523638p.N262Sc.785A>GSubstitution - Missense
NM_003315.1p.E348Vc.1043A>TSubstitution - Missense
ELAVL2ENSG00000107105ENST00000380117p.F299Fc.897T>CSubstitution - coding silent
TRAM1L1ENSG00000174599ENST00000310754p.Q16Lc.47A>TSubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.E422Qc.1264G>CSubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.P297Sc.889C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.N25204Ic.75611A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R13401Cc.40201C>TSubstitution - Missense
NINLENSG00000101004ENST00000278886p.L479Rc.1436T>GSubstitution - Missense
CSNK1DENSG00000141551ENST00000314028p.R160Sc.478C>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.Q2555Kc.7663C>ASubstitution - Missense
HCN2ENSG00000099822ENST00000251287p.?c.1585-7C>AUnknown
MSL3ENSG00000005302ENST00000337339p.A92Dc.275C>ASubstitution - Missense
SLC44A3ENSG00000143036ENST00000271227p.T32Tc.96G>CSubstitution - coding silent
PTPN21ENSG00000070778ENST00000328736p.L918Lc.2754C>GSubstitution - coding silent
STON2ENSG00000140022ENST00000267540p.P327Sc.979C>TSubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.T660Ic.1979C>TSubstitution - Missense
HALENSG00000084110ENST00000261208p.E321Qc.961G>CSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.A1360Ac.4080G>ASubstitution - coding silent
MYCBP2ENSG00000005810ENST00000407578p.N1544Sc.4631A>GSubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.A544Vc.1631C>TSubstitution - Missense
HRGENSG00000113905ENST00000232003p.G103Rc.307G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S714Sc.2142G>ASubstitution - coding silent
MOXD1ENSG00000079931ENST00000367963p.H255Hc.765C>TSubstitution - coding silent
BIKENSG00000100290ENST00000216115p.G153Ec.458G>ASubstitution - Missense
KCNK5ENSG00000164626ENST00000359534p.R274Gc.820C>GSubstitution - Missense
SEMA6BENSG00000167680ENST00000301293p.R429Rc.1285C>ASubstitution - coding silent
NM_003319p.R13209Cc.39625C>TSubstitution - Missense
RNPEPL1ENSG00000142327ENST00000270357p.P90Lc.269C>TSubstitution - Missense
ITSN2ENSG00000198399ENST00000355123p.R1238Cc.3712C>TSubstitution - Missense
MC2RENSG00000185231ENST00000399821p.I11Ic.33C>ASubstitution - coding silent
ERGENSG00000157554ENST00000417133p.I402Nc.1205T>ASubstitution - Missense
ASPDHENSG00000204653ENST00000389208p.L229Pc.686T>CSubstitution - Missense
ITGAVENSG00000138448ENST00000261023p.?c.631+2T>CUnknown
KDELC2ENSG00000178202ENST00000323468p.S78Cc.233C>GSubstitution - Missense
NDE1ENSG00000072864ENST00000396354p.S154Gc.460A>GSubstitution - Missense
HSP90B1ENSG00000166598ENST00000299767p.D368Gc.1103A>GSubstitution - Missense
PCK2ENSG00000100889ENST00000216780p.T235Tc.705C>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.W4116*c.12347G>ASubstitution - Nonsense
TP53ENSG00000141510ENST00000455263p.R175Hc.524G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.V4126Ac.12377T>CSubstitution - Missense
NM_206943.1p.T1376Tc.4128A>GSubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.D547Nc.1639G>ASubstitution - Missense
CSNK1DENSG00000141551ENST00000392334p.R160Sc.478C>ASubstitution - Missense
ENST00000420871_v68p.Q836Hc.2508A>CSubstitution - Missense
RPN2ENSG00000118705ENST00000237530p.I470Vc.1408A>GSubstitution - Missense
MSL3ENSG00000005302ENST00000312196p.A92Dc.275C>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.D913Yc.2737G>TSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.L463Lc.1389G>TSubstitution - coding silent
STX2ENSG00000111450ENST00000392373p.N14Sc.41A>GSubstitution - Missense
ITGB1ENSG00000150093ENST00000423113p.H690Hc.2070T>CSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.R2394Qc.7181G>ASubstitution - Missense
FAM193AENSG00000125386ENST00000324666p.P481Rc.1442C>GSubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.?c.1_16del16Unknown
RBM27ENSG00000091009ENST00000265271p.L992Lc.2976T>ASubstitution - coding silent
HAS2ENSG00000170961ENST00000303924p.R203Qc.608G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.K3504*c.10510A>TSubstitution - Nonsense
XM_371474.2p.I881Ic.2643C>TSubstitution - coding silent
CAND2ENSG00000144712ENST00000295989p.D964Dc.2892C>TSubstitution - coding silent
IL20RAENSG00000016402ENST00000316649p.L265Fc.793C>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.P2204Sc.6610C>TSubstitution - Missense
CASP8ENSG00000064012ENST00000358485p.R472*c.1414C>TSubstitution - Nonsense
ENST00000268613_v61p.I38Ic.114C>TSubstitution - coding silent
RASGRP1ENSG00000172575ENST00000310803p.S661Ac.1981T>GSubstitution - Missense
MAELENSG00000143194ENST00000367872p.R188Cc.562C>TSubstitution - Missense
TP53BP1ENSG00000067369ENST00000263801p.Q278_Q282delQLSAQc.832_846del15Deletion - In frame
TXNRD1ENSG00000198431ENST00000525566p.K245Kc.735G>ASubstitution - coding silent
MYBPC2ENSG00000086967ENST00000357701p.V886Vc.2658G>ASubstitution - coding silent
NINENSG00000100503ENST00000382041p.R134Rc.402G>ASubstitution - coding silent
PPARGC1BENSG00000155846ENST00000394320p.E923Gc.2768A>GSubstitution - Missense
KDELC2ENSG00000178202ENST00000434945p.S22Cc.65C>GSubstitution - Missense
KIAA1107ENSG00000069712ENST00000409154p.H588Rc.1763A>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.R972Wc.2914C>TSubstitution - Missense
ZBTB43ENSG00000169155ENST00000373457p.L85Fc.253C>TSubstitution - Missense
NINENSG00000100503ENST00000453196p.R134Rc.402G>ASubstitution - coding silent
KIAA2018ENSG00000176542ENST00000316407p.R2034Kc.6101G>ASubstitution - Missense
RBM44ENSG00000177483ENST00000316997p.R272Kc.815G>ASubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.R522Qc.1565G>ASubstitution - Missense
ENST00000356127p.?c.46486+7G>AUnknown
FAM3BENSG00000183844ENST00000357985p.G175Ec.524G>ASubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.H859Hc.2577C>TSubstitution - coding silent
WDR81ENSG00000167716ENST00000409644p.P831Pc.2493C>TSubstitution - coding silent
OR2M7ENSG00000177186ENST00000317965p.A162Vc.485C>TSubstitution - Missense
ENST00000257034p.?c.1140-8A>CUnknown
PADI1ENSG00000142623ENST00000375471p.?c.93-4C>TUnknown
ABTB2ENSG00000166016ENST00000435224p.?c.1563+5G>AUnknown
SZT2ENSG00000198198ENST00000562955p.R2322Cc.6964C>TSubstitution - Missense
NM_017635.3p.K2Tc.5A>CSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.E527Kc.1579G>ASubstitution - Missense
SUGT1ENSG00000165416ENST00000343788p.N159Ic.476A>TSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.L1049Sc.3146T>CSubstitution - Missense
DSTENSG00000151914ENST00000370765p.V1886Mc.5656G>ASubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.P409Pc.1227C>TSubstitution - coding silent
FAM3DENSG00000198643ENST00000358781p.?c.264-8G>TUnknown
CDCP2ENSG00000157211ENST00000371330p.I60Ic.180C>TSubstitution - coding silent
SU_CRIKp.V2039Mc.6115G>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.T594Ic.1781C>TSubstitution - Missense
TECPR2ENSG00000196663ENST00000359520p.P674Pc.2022C>TSubstitution - coding silent
MRPL55ENSG00000162910ENST00000366746p.H65Hc.195C>TSubstitution - coding silent
RPUSD4ENSG00000165526ENST00000298317p.R85Qc.254G>ASubstitution - Missense
MAN2C1ENSG00000140400ENST00000267978p.A947Ac.2841G>ASubstitution - coding silent
POU4F1ENSG00000152192ENST00000377208p.F415Fc.1245C>TSubstitution - coding silent
OR2T33ENSG00000177212ENST00000318021p.R141Gc.421A>GSubstitution - Missense
ENST00000215591p.H844Hc.2532C>TSubstitution - coding silent
ACACBENSG00000076555ENST00000377848p.E1575Kc.4723G>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.R1771Qc.5312G>ASubstitution - Missense
ENST00000359598p.F327Fc.981T>CSubstitution - coding silent
AKAP8LENSG00000011243ENST00000397410p.K441Rc.1322A>GSubstitution - Missense
GJC3ENSG00000176402ENST00000312891p.R8Qc.23G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.D4876Ec.14628C>ASubstitution - Missense
PCDHA8ENSG00000204962ENST00000378123p.F242Fc.726C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.?c.354+12_586+754del1565Unknown
METTL14ENSG00000145388ENST00000388822p.R456Lc.1367G>TSubstitution - Missense
IQSEC2ENSG00000124313ENST00000375365p.N197Tc.590A>CSubstitution - Missense
CNOT3ENSG00000088038ENST00000221232p.Q163Qc.489G>ASubstitution - coding silent
NM_007332.1p.Q1031Kc.3091C>ASubstitution - Missense
UNC13BENSG00000198722ENST00000378495p.?c.3951+4A>GUnknown
ENST00000448615_v68p.T56Tc.168C>TSubstitution - coding silent
MTUS2ENSG00000132938ENST00000380808p.?c.834-10G>AUnknown
XPOTENSG00000184575ENST00000332707p.N821Ic.2462A>TSubstitution - Missense
AEBP2ENSG00000139154ENST00000398864p.M496Vc.1486A>GSubstitution - Missense
FFAR4ENSG00000186188ENST00000371483p.N21Nc.63C>TSubstitution - coding silent
TRPA1ENSG00000104321ENST00000262209p.Q1031Kc.3091C>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S884Sc.2652C>GSubstitution - coding silent
CLINT1ENSG00000113282ENST00000523094p.M427Vc.1279A>GSubstitution - Missense
ENST00000544403p.L741Fc.2223G>TSubstitution - Missense
SCO2ENSG00000130489ENST00000543927p.R114Hc.341G>ASubstitution - Missense
AMDHD2ENSG00000162066ENST00000302956p.?c.415+8G>AUnknown
ZNF680ENSG00000173041ENST00000309683p.K339Rc.1016A>GSubstitution - Missense
RAB11FIP5ENSG00000135631ENST00000258098p.P569Pc.1707T>GSubstitution - coding silent
ENST00000356127p.R19704Cc.59110C>TSubstitution - Missense
CARFENSG00000138380ENST00000320443p.D646Dc.1938C>TSubstitution - coding silent
KIAA1107ENSG00000069712ENST00000370378p.H533Rc.1598A>GSubstitution - Missense
MASTLENSG00000120539ENST00000375946p.C348Sc.1043G>CSubstitution - Missense
ENST00000438990p.R138Qc.413G>ASubstitution - Missense
RAPGEF3ENSG00000079337ENST00000395358p.R99Tc.296G>CSubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.?c.3927-10G>AUnknown
CACNA2D4ENSG00000151062ENST00000382722p.L507Ic.1519C>ASubstitution - Missense
DHX32ENSG00000089876ENST00000284690p.G111Vc.332G>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.R640Qc.1919G>ASubstitution - Missense
SUGT1ENSG00000165416ENST00000310528p.N127Ic.380A>TSubstitution - Missense
USP49ENSG00000164663ENST00000394253p.A536Ac.1608T>CSubstitution - coding silent
SETXENSG00000107290ENST00000372169p.W238*c.714G>ASubstitution - Nonsense
NFASCENSG00000163531ENST00000367171p.V648Ic.1942G>ASubstitution - Missense
NDE1ENSG00000072864ENST00000396353p.S154Gc.460A>GSubstitution - Missense
THEMISENSG00000172673ENST00000543064p.T578Kc.1733C>ASubstitution - Missense
C9orf84ENSG00000165181ENST00000374287p.A77Ac.231A>TSubstitution - coding silent
SPHK2ENSG00000063176ENST00000245222p.G62Sc.184G>ASubstitution - Missense
BTNL8ENSG00000113303ENST00000231229p.R319Wc.955C>TSubstitution - Missense
NAA11ENSG00000156269ENST00000286794p.S215Nc.644G>ASubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.T561Ic.1682C>TSubstitution - Missense
ENSG00000270149ENST00000289779p.M1Lc.1A>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.W3833*c.11498G>ASubstitution - Nonsense
ENOX1ENSG00000120658ENST00000261488p.E527Kc.1579G>ASubstitution - Missense
SMG5ENSG00000198952ENST00000361813p.R765Hc.2294G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.I4447Vc.13339A>GSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.C49Cc.147C>TSubstitution - coding silent
CDKN2AENSG00000147889ENST00000304494p.E88*c.262G>TSubstitution - Nonsense
TDP2ENSG00000111802ENST00000341060p.P97Pc.291C>TSubstitution - coding silent
CEP63ENSG00000182923ENST00000354446p.?c.44+9G>AUnknown
OR51G1ENSG00000176879ENST00000321961p.L283Lc.847C>TSubstitution - coding silent
DOCK1ENSG00000150760ENST00000280333p.K1222Ec.3664A>GSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.?c.2610+3A>GUnknown
CCHCR1ENSG00000204536ENST00000396268p.V462Lc.1384G>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
MOXD1ENSG00000079931ENST00000336749p.H187Hc.561C>TSubstitution - coding silent
GAP43ENSG00000172020ENST00000305124p.N150Yc.448A>TSubstitution - Missense
USP49ENSG00000164663ENST00000373006p.A536Ac.1608T>CSubstitution - coding silent
CNTNAP1ENSG00000108797ENST00000264638p.T953Pc.2857A>CSubstitution - Missense
NFIBENSG00000147862ENST00000380959p.?c.563-1G>AUnknown
SYNE1ENSG00000131018ENST00000265368p.T7345Tc.22035T>GSubstitution - coding silent
XM_291345.2p.N399Tc.1196A>CSubstitution - Missense
APCENSG00000134982ENST00000457016p.N1118Kc.3354T>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.Q836Hc.2508A>CSubstitution - Missense
KDM4BENSG00000127663ENST00000381759p.G420Ec.1259G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T14478Pc.43432A>CSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.I44Vc.130A>GSubstitution - Missense
KRTAP5-1ENSG00000205869ENST00000382171p.S26Sc.78C>TSubstitution - coding silent
TAF5ENSG00000148835ENST00000369839p.G670Ec.2009G>ASubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.S688fs*8c.2061_2064delCAGTDeletion - Frameshift
NM_006105.3p.R57Tc.170G>CSubstitution - Missense
CHST15ENSG00000182022ENST00000346248p.L106Lc.318G>TSubstitution - coding silent
WAPALENSG00000062650ENST00000298767p.Q711fs*17c.2131delCDeletion - Frameshift
EPRSENSG00000136628ENST00000366923p.M277Lc.829A>CSubstitution - Missense
NEO1ENSG00000067141ENST00000261908p.P1189Sc.3565C>TSubstitution - Missense
PRH2ENSG00000134551ENST00000381847p.P141fs*>27c.414_415insCInsertion - Frameshift
TDP2ENSG00000111802ENST00000545995p.P185Pc.555C>TSubstitution - coding silent
MYO9AENSG00000066933ENST00000424560p.D1924Dc.5772C>TSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000372443p.R640Qc.1919G>ASubstitution - Missense
ENST00000338790p.G267Gc.801C>TSubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.L853delLc.2553_2555delTCTDeletion - In frame
FAM227AENSG00000184949ENST00000355830p.K565Nc.1695A>CSubstitution - Missense
CPEB2ENSG00000137449ENST00000259997p.D431Yc.1291G>TSubstitution - Missense
ENPP6ENSG00000164303ENST00000296741p.V54Lc.160G>CSubstitution - Missense
NM_002439.1p.L997fs*10c.2989_2990delCTDeletion - Frameshift
CLN3ENSG00000188603ENST00000359984p.?c.461-7C>TUnknown
CAND2ENSG00000144712ENST00000454887p.D9Dc.27C>TSubstitution - coding silent
IQSEC2ENSG00000124313ENST00000396435p.N402Tc.1205A>CSubstitution - Missense
ZNF419ENSG00000105136ENST00000347466p.K275Rc.824A>GSubstitution - Missense
STPG2ENSG00000163116ENST00000295268p.R7Gc.19C>GSubstitution - Missense
ENSG00000212768ENST00000391457p.S40Lc.119C>TSubstitution - Missense
ZMYM5ENSG00000132950ENST00000337963p.S263Lc.788C>TSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.A1933Gc.5798C>GSubstitution - Missense
MLLT10ENSG00000078403ENST00000307729p.R688fs*4c.2063delGDeletion - Frameshift
PCNXL3ENSG00000197136ENST00000355703p.K1762Kc.5286G>ASubstitution - coding silent
FAM160A2ENSG00000051009ENST00000265978p.P872Pc.2616A>CSubstitution - coding silent
CEP57ENSG00000166037ENST00000325542p.L189Lc.565T>CSubstitution - coding silent
NALCNENSG00000102452ENST00000251127p.M663Lc.1987A>TSubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.P1522Pc.4566C>TSubstitution - coding silent
CDHR1ENSG00000148600ENST00000332904p.?c.1783-5C>TUnknown
CAPN2ENSG00000162909ENST00000295006p.T306Tc.918T>CSubstitution - coding silent
CDKN2AENSG00000147889ENST00000498124p.E88*c.262G>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000413465p.R175Hc.524G>ASubstitution - Missense
HDAC6ENSG00000094631ENST00000444343p.?c.1367-9C>TUnknown
ERGENSG00000157554ENST00000288319p.I395Nc.1184T>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.R640Qc.1919G>ASubstitution - Missense
UPB1ENSG00000100024ENST00000326010p.I184Nc.551T>ASubstitution - Missense
CWH43ENSG00000109182ENST00000226432p.?c.357-5T>CUnknown
HIST1H4LENSG00000198558ENST00000355981p.K6Nc.18A>CSubstitution - Missense
SETXENSG00000107290ENST00000224140p.W238*c.714G>ASubstitution - Nonsense
CPEB2ENSG00000137449ENST00000538197p.D876Yc.2626G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.K1458Rc.4373A>GSubstitution - Missense
BTNL8ENSG00000113303ENST00000340184p.H275Hc.825C>TSubstitution - coding silent
HUWE1ENSG00000086758ENST00000342160p.?c.9073_9096+35del59Unknown
TEX2ENSG00000136478ENST00000258991p.S712Lc.2135C>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.G1970Gc.5910C>ASubstitution - coding silent
FMO6PENSG00000117507ENST00000236166p.S63Fc.188C>TSubstitution - Missense
ALDH3B2ENSG00000132746ENST00000530069p.I235Lc.703A>CSubstitution - Missense
ZNF592ENSG00000166716ENST00000299927p.T534Sc.1600A>TSubstitution - Missense
AP3M1ENSG00000185009ENST00000372745p.I190Vc.568A>GSubstitution - Missense
NM_033667.1p.H690Hc.2070T>CSubstitution - coding silent
GPR180ENSG00000152749ENST00000376958p.Q75Pc.224A>CSubstitution - Missense
OPA1ENSG00000198836ENST00000361510p.I24Mc.72A>GSubstitution - Missense
ABCA3ENSG00000167972ENST00000301732p.?c.4548-22_4558del33Unknown
CD2APENSG00000198087ENST00000359314p.I85Vc.253A>GSubstitution - Missense
ADCYAP1R1ENSG00000078549ENST00000304166p.I317Tc.950T>CSubstitution - Missense
KLF10ENSG00000155090ENST00000285407p.T293Pc.877A>CSubstitution - Missense
PCDHA8ENSG00000204962ENST00000531613p.F242Fc.726C>TSubstitution - coding silent
PCDHGA10ENSG00000253846ENST00000398610p.V592Lc.1774G>CSubstitution - Missense
MTO1ENSG00000135297ENST00000370300p.E579Kc.1735G>ASubstitution - Missense
ZNF154ENSG00000179909ENST00000512439p.T13Tc.39T>GSubstitution - coding silent
ZNF419ENSG00000105136ENST00000424930p.K308Rc.923A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.N18899Ic.56696A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.?c.27571+7G>AUnknown
CTAGE1ENSG00000212710ENST00000391403p.R522Qc.1565G>ASubstitution - Missense
RGL3ENSG00000205517ENST00000380456p.R514Cc.1540C>TSubstitution - Missense
ENST00000448615p.T56Tc.168C>TSubstitution - coding silent
DPYSL2ENSG00000092964ENST00000311151p.L459Lc.1377G>ASubstitution - coding silent
ERBB4ENSG00000178568ENST00000402597p.N465Kc.1395C>ASubstitution - Missense
HMGB1ENSG00000189403ENST00000405805p.E40fs*3c.119_120delAGDeletion - Frameshift
DMBT1ENSG00000187908ENST00000368909p.S2154Yc.6461C>ASubstitution - Missense
ATG13ENSG00000175224ENST00000451945p.G77Rc.229G>ASubstitution - Missense
ANKLE1ENSG00000160117ENST00000433424p.?c.623-8A>CUnknown
PDZRN3ENSG00000121440ENST00000535920p.G396Cc.1186G>TSubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.P961Tc.2881C>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000404771p.R577Qc.1730G>ASubstitution - Missense
EEF2ENSG00000167658ENST00000309311p.M160Vc.478A>GSubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.D1081Dc.3243C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.T7345Tc.22035T>GSubstitution - coding silent
HSD17B11ENSG00000198189ENST00000358290p.A104Sc.310G>TSubstitution - Missense
TCF25ENSG00000141002ENST00000263346p.L586Lc.1756C>TSubstitution - coding silent
PRSS36ENSG00000178226ENST00000268281p.Y646Fc.1937A>TSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.G2344Sc.7030G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.?c.27370+7G>AUnknown
HIST1H4HENSG00000158406ENST00000377727p.A77Vc.230C>TSubstitution - Missense
AFPENSG00000081051ENST00000395792p.I74Tc.221T>CSubstitution - Missense
UGT2B15ENSG00000196620ENST00000338206p.G311Rc.931G>CSubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.L371Mc.1111C>ASubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.D1853Dc.5559C>TSubstitution - coding silent
SMARCC2ENSG00000139613ENST00000267064p.N1141Tc.3422A>CSubstitution - Missense
KRT2ENSG00000172867ENST00000309680p.S158Sc.474C>TSubstitution - coding silent
GNAZENSG00000128266ENST00000248996p.R306Qc.917G>ASubstitution - Missense
NINENSG00000100503ENST00000382041p.R134Rc.402G>ASubstitution - coding silent
CLVS2ENSG00000146352ENST00000275162p.K117Kc.351G>ASubstitution - coding silent
AMDHD2ENSG00000162066ENST00000413459p.?c.415+8G>AUnknown
TP53ENSG00000141510ENST00000420246p.R175Hc.524G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.V961Vc.2883A>GSubstitution - coding silent
ZKSCAN8ENSG00000198315ENST00000330236p.S446Gc.1336A>GSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.E514Dc.1542G>CSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.E514Dc.1542G>CSubstitution - Missense
PRKCEENSG00000171132ENST00000306156p.D505Nc.1513G>ASubstitution - Missense
ZNF543ENSG00000178229ENST00000321545p.C397Rc.1189T>CSubstitution - Missense
ZNF749ENSG00000186230ENST00000334181p.G210Ec.629G>ASubstitution - Missense
PRMT2ENSG00000160310ENST00000334494p.V254Gc.761T>GSubstitution - Missense
SIRPB1ENSG00000101307ENST00000279477p.P64Pc.192C>GSubstitution - coding silent
C5orf42ENSG00000197603ENST00000425232p.L463Pc.1388T>CSubstitution - Missense
RAPGEF3ENSG00000079337ENST00000449771p.R99Tc.296G>CSubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.A262Ec.785C>ASubstitution - Missense
NAMPTLENSG00000229644ENST00000440465p.K323Nc.969G>TSubstitution - Missense
ZNF680ENSG00000173041ENST00000309683p.A363Sc.1087G>TSubstitution - Missense
SMAD4ENSG00000141646ENST00000342988p.Q256*c.766C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000448038p.T7274Tc.21822T>GSubstitution - coding silent
CLCNKBENSG00000184908ENST00000375667p.P516Sc.1546C>TSubstitution - Missense
ENST00000314657p.S255Sc.765C>TSubstitution - coding silent
ENST00000316490_v65p.?c.2529+3A>GUnknown
PCDHB4ENSG00000081818ENST00000194152p.V113Mc.337G>ASubstitution - Missense


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